|
ENST00000415788.3:c.988A>C
(SGCE)
|
ENSP00000405313.2:p.Ile330Leu
|
|
|
ENST00000428696.7:c.859A>C
(SGCE)
|
ENSP00000397536.3:p.Ile287Leu
|
|
|
ENST00000437425.7:c.757A>C
(SGCE)
|
ENSP00000394061.2:p.Ile253Leu
|
|
|
ENST00000445866.7:c.880A>C
(SGCE)
|
ENSP00000398930.2:p.Ile294Leu
|
|
|
ENST00000447873.6:c.880A>C
(SGCE)
|
ENSP00000388734.1:p.Ile294Leu
|
|
|
ENST00000642169.1:c.*262A>C
(SGCE)
|
ENSP00000496346.1:n.*262A>C
|
|
|
ENST00000642291.1:c.741A>C
(SGCE)
|
|
|
|
ENST00000642353.1:n.851A>C
(SGCE)
|
|
|
|
ENST00000642394.1:c.757A>C
(SGCE)
|
ENSP00000493751.1:p.Ile253Leu
|
|
|
ENST00000642441.1:c.961A>C
(SGCE)
|
ENSP00000495994.1:p.Ile321Leu
|
|
|
ENST00000642497.1:n.1653A>C
(SGCE)
|
|
|
|
ENST00000642564.1:n.980A>C
(SGCE)
|
|
|
|
ENST00000642638.1:c.*918A>C
(SGCE)
|
ENSP00000495555.1:n.*918A>C
|
|
|
ENST00000642707.1:c.988A>C
(SGCE)
|
ENSP00000495270.1:p.Ile330Leu
|
|
|
ENST00000642754.1:n.5752A>C
(SGCE)
|
|
|
|
ENST00000642759.1:n.969A>C
(SGCE)
|
|
|
|
ENST00000642802.1:n.702A>C
(SGCE)
|
|
|
|
ENST00000642904.1:n.968A>C
(SGCE)
|
|
|
|
ENST00000642933.1:c.880A>C
(SGCE)
|
ENSP00000496237.1:p.Ile294Leu
|
|
|
ENST00000643020.1:c.806A>C
(SGCE)
|
|
|
|
ENST00000643041.1:c.880A>C
(SGCE)
|
ENSP00000495311.1:p.Ile294Leu
|
|
|
ENST00000643128.1:c.880A>C
(SGCE)
|
ENSP00000496678.1:p.Ile294Leu
|
|
|
ENST00000643160.1:c.111A>C
(SGCE)
|
|
|
|
ENST00000643193.1:c.880A>C
(SGCE)
|
ENSP00000496559.1:p.Ile294Leu
|
|
|
ENST00000643206.1:c.*461A>C
(SGCE)
|
ENSP00000496172.1:n.*461A>C
|
|
|
ENST00000643272.1:c.988A>C
(SGCE)
|
ENSP00000494488.1:p.Ile330Leu
|
|
|
ENST00000643324.1:n.1771A>C
(SGCE)
|
|
|
|
ENST00000643491.1:n.808A>C
(SGCE)
|
|
|
|
ENST00000643568.1:c.561A>C
(SGCE)
|
|
|
|
ENST00000643605.1:c.*867A>C
(SGCE)
|
ENSP00000496480.1:n.*867A>C
|
|
|
ENST00000643610.1:c.880A>C
(SGCE)
|
ENSP00000494350.1:p.Ile294Leu
|
|
|
ENST00000643714.1:n.948A>C
(SGCE)
|
|
|
|
ENST00000643903.1:c.880A>C
(SGCE)
|
ENSP00000495165.1:p.Ile294Leu
|
|
|
ENST00000643991.1:c.789A>C
(SGCE)
|
|
|
|
ENST00000644087.1:c.*957A>C
(SGCE)
|
ENSP00000495249.1:n.*957A>C
|
|
|
ENST00000644116.1:c.880A>C
(SGCE)
|
ENSP00000495276.1:p.Ile294Leu
|
|
|
ENST00000644122.1:c.961A>C
(SGCE)
|
ENSP00000495236.1:p.Ile321Leu
|
|
|
ENST00000644201.1:c.663A>C
(SGCE)
|
ENSP00000495044.1:n.663A>C
|
|
|
ENST00000644268.1:n.1500A>C
(SGCE)
|
|
|
|
ENST00000644373.1:n.1916A>C
(SGCE)
|
|
|
|
ENST00000644375.1:c.946A>C
(SGCE)
|
ENSP00000494315.1:p.Ile316Leu
|
|
|
ENST00000644533.1:n.1635A>C
(SGCE)
|
|
|
|
ENST00000644551.1:c.961A>C
(SGCE)
|
ENSP00000493981.1:p.Ile321Leu
|
|
|
ENST00000644609.1:c.880A>C
(SGCE)
|
ENSP00000496045.1:p.Ile294Leu
|
|
|
ENST00000644639.1:c.*541A>C
(SGCE)
|
ENSP00000496391.1:n.*541A>C
|
|
|
ENST00000644658.1:c.390-1080A>C
(SGCE)
|
|
|
|
ENST00000644674.1:n.781A>C
(SGCE)
|
|
|
|
ENST00000644681.1:c.607A>C
(SGCE)
|
ENSP00000496455.1:p.Ile203Leu
|
|
|
ENST00000644682.1:c.944A>C
(SGCE)
|
|
|
|
ENST00000644816.1:c.880A>C
(SGCE)
|
ENSP00000494898.1:p.Ile294Leu
|
|
|
ENST00000644966.1:c.859A>C
(SGCE)
|
ENSP00000495105.1:n.859A>C
|
|
|
ENST00000645101.1:c.1069A>C
(SGCE)
|
ENSP00000494975.1:p.Ile357Leu
|
|
|
ENST00000645109.1:c.988A>C
(SGCE)
|
ENSP00000495931.1:p.Ile330Leu
|
|
|
ENST00000645262.1:c.757A>C
(SGCE)
|
ENSP00000494164.1:p.Ile253Leu
|
|
|
ENST00000645445.1:c.854A>C
(SGCE)
|
|
|
|
ENST00000645535.1:c.607A>C
(SGCE)
|
ENSP00000493984.1:p.Ile203Leu
|
|
|
ENST00000645579.1:n.1800A>C
(SGCE)
|
|
|
|
ENST00000645624.1:n.443A>C
(SGCE)
|
|
|
|
ENST00000645725.1:c.961A>C
(SGCE)
|
ENSP00000495480.1:p.Ile321Leu
|
|
|
ENST00000646098.1:c.856A>C
(SGCE)
|
ENSP00000495591.1:p.Ile286Leu
|
|
|
ENST00000646119.1:c.854A>C
(SGCE)
|
|
|
|
ENST00000646137.1:c.880A>C
(SGCE)
|
ENSP00000495199.1:p.Ile294Leu
|
|
|
ENST00000646265.1:c.969A>C
(SGCE)
|
|
|
|
ENST00000646301.1:c.853A>C
(SGCE)
|
|
|
|
ENST00000646434.1:c.1129A>C
(SGCE)
|
|
|
|
ENST00000646466.1:c.*810A>C
(SGCE)
|
ENSP00000493511.1:n.*810A>C
|
|
|
ENST00000646489.1:c.988A>C
(SGCE)
|
ENSP00000496268.1:p.Ile330Leu
|
|
|
ENST00000646559.1:c.*810A>C
(SGCE)
|
ENSP00000495838.1:n.*810A>C
|
|
|
ENST00000646600.1:c.*810A>C
(SGCE)
|
ENSP00000494041.1:n.*810A>C
|
|
|
ENST00000646682.1:c.*488A>C
(SGCE)
|
ENSP00000496461.1:n.*488A>C
|
|
|
ENST00000646879.1:c.880A>C
(SGCE)
|
ENSP00000495209.1:p.Ile294Leu
|
|
|
ENST00000646910.1:n.913A>C
(SGCE)
|
|
|
|
ENST00000646943.1:c.880A>C
(SGCE)
|
ENSP00000494666.1:p.Ile294Leu
|
|
|
ENST00000647018.1:c.988A>C
(SGCE)
|
ENSP00000493722.1:p.Ile330Leu
|
|
|
ENST00000647031.1:n.3494A>C
(SGCE)
|
|
|
|
ENST00000647048.1:c.704A>C
(SGCE)
|
|
|
|
ENST00000647096.1:c.988A>C
(SGCE)
|
ENSP00000494192.1:p.Ile330Leu
|
|
|
ENST00000647110.1:c.886A>C
(SGCE)
|
ENSP00000494738.1:p.Ile296Leu
|
|
|
ENST00000647334.1:c.986A>C
(SGCE)
|
|
|
|
ENST00000647351.1:c.961A>C
(SGCE)
|
ENSP00000494556.1:p.Ile321Leu
|
|
|
ENST00000647379.1:n.93A>C
(SGCE)
|
|
|
|
ENST00000647533.1:n.1579A>C
(SGCE)
|
|
|
|
ENST00000648936.2:c.880A>C
(SGCE)
MANE Select
|
ENSP00000497130.1:p.Ile294Leu
|
|
|
ENST00000265735.11:c.880A>C
(SGCE)
|
ENSP00000265735.6:p.Ile294Leu
|
|
|
ENST00000415788.2:c.988A>C
(SGCE)
|
ENSP00000405313.2:p.Ile330Leu
|
|
|
ENST00000428696.6:c.880A>C
(SGCE)
|
ENSP00000397536.2:p.Ile294Leu
|
|
|
ENST00000437425.6:c.757A>C
(SGCE)
|
ENSP00000394061.2:p.Ile253Leu
|
|
|
ENST00000445866.6:c.880A>C
(SGCE)
|
ENSP00000398930.2:p.Ile294Leu
|
|
|
ENST00000447873.5:c.880A>C
(SGCE)
|
ENSP00000388734.1:p.Ile294Leu
|
|
|
ENST00000462731.1:n.173A>C
(SGCE)
|
|
|
|
NM_001099400.1:c.880A>C
(SGCE)
|
NP_001092870.1:p.Ile294Leu
|
|
|
NM_001099401.1:c.880A>C
(SGCE)
|
NP_001092871.1:p.Ile294Leu
|
|
|
NM_001301139.1:c.757A>C
(SGCE)
|
NP_001288068.1:p.Ile253Leu
|
|
|
NM_003919.2:c.880A>C
(SGCE)
|
NP_003910.1:p.Ile294Leu
|
|
|
XM_005250675.3:c.988A>C
(SGCE)
|
XP_005250732.1:p.Ile330Leu
|
|
|
XM_005250677.3:c.988A>C
(SGCE)
|
XP_005250734.1:p.Ile330Leu
|
|
|
XM_011516495.1:c.2128-30513T>G
(CASD1)
|
XP_011514797.1:n.2128-30513T>G
|
|
|
XM_011516663.1:c.988A>C
(SGCE)
|
XP_011514965.1:p.Ile330Leu
|
|
|
XM_011516664.1:c.988A>C
(SGCE)
|
XP_011514966.1:p.Ile330Leu
|
|
|
XM_011516665.1:c.880A>C
(SGCE)
|
XP_011514967.1:p.Ile294Leu
|
|
|
XM_011516666.1:c.880A>C
(SGCE)
|
XP_011514968.1:p.Ile294Leu
|
|
|
XM_011516667.1:c.793A>C
(SGCE)
|
XP_011514969.1:p.Ile265Leu
|
|
|
XM_011516668.1:c.757A>C
(SGCE)
|
XP_011514970.1:p.Ile253Leu
|
|
|
XM_011516669.1:c.607A>C
(SGCE)
|
XP_011514971.1:p.Ile203Leu
|
|
|
NM_001346713.1:c.988A>C
(SGCE)
|
NP_001333642.1:p.Ile330Leu
|
|
|
NM_001346715.1:c.988A>C
(SGCE)
|
NP_001333644.1:p.Ile330Leu
|
|
|
NM_001346717.1:c.880A>C
(SGCE)
|
NP_001333646.1:p.Ile294Leu
|
|
|
NM_001346719.1:c.793A>C
(SGCE)
|
NP_001333648.1:p.Ile265Leu
|
|
|
NM_001346720.1:c.607A>C
(SGCE)
|
NP_001333649.1:p.Ile203Leu
|
|
|
NM_001362807.1:c.793A>C
(SGCE)
|
NP_001349736.1:p.Ile265Leu
|
|
|
NM_001362808.1:c.607A>C
(SGCE)
|
NP_001349737.1:p.Ile203Leu
|
|
|
NM_001362809.1:c.757A>C
(SGCE)
|
NP_001349738.1:p.Ile253Leu
|
|
|
XM_011516495.2:c.2128-30513T>G
(CASD1)
|
XP_011514797.1:n.2128-30513T>G
|
|
|
XM_011516663.2:c.988A>C
(SGCE)
|
XP_011514965.1:p.Ile330Leu
|
|
|
XM_011516664.2:c.988A>C
(SGCE)
|
XP_011514966.1:p.Ile330Leu
|
|
|
XM_011516665.3:c.880A>C
(SGCE)
|
XP_011514967.1:p.Ile294Leu
|
|
|
XM_011516666.3:c.880A>C
(SGCE)
|
XP_011514968.1:p.Ile294Leu
|
|
|
XM_011516667.2:c.793A>C
(SGCE)
|
XP_011514969.1:p.Ile265Leu
|
|
|
XM_011516669.3:c.607A>C
(SGCE)
|
XP_011514971.1:p.Ile203Leu
|
|
|
XM_017012763.1:c.793A>C
(SGCE)
|
XP_016868252.1:p.Ile265Leu
|
|
|
XM_017012767.1:c.607A>C
(SGCE)
|
XP_016868256.1:p.Ile203Leu
|
|
|
XM_024446985.1:c.757A>C
(SGCE)
|
XP_024302753.1:p.Ile253Leu
|
|
|
XM_024446986.1:c.757A>C
(SGCE)
|
XP_024302754.1:p.Ile253Leu
|
|
|
NM_001099400.2:c.880A>C
(SGCE)
|
NP_001092870.1:p.Ile294Leu
|
|
|
NM_001099401.2:c.880A>C
(SGCE)
|
NP_001092871.1:p.Ile294Leu
|
|
|
NM_001301139.2:c.757A>C
(SGCE)
|
NP_001288068.1:p.Ile253Leu
|
|
|
NM_001346713.2:c.988A>C
(SGCE)
|
NP_001333642.1:p.Ile330Leu
|
|
|
NM_001346715.2:c.988A>C
(SGCE)
|
NP_001333644.1:p.Ile330Leu
|
|
|
NM_001346717.2:c.880A>C
(SGCE)
|
NP_001333646.1:p.Ile294Leu
|
|
|
NM_001346719.2:c.793A>C
(SGCE)
|
NP_001333648.1:p.Ile265Leu
|
|
|
NM_001346720.2:c.607A>C
(SGCE)
|
NP_001333649.1:p.Ile203Leu
|
|
|
NM_001362807.2:c.793A>C
(SGCE)
|
NP_001349736.1:p.Ile265Leu
|
|
|
NM_001362808.2:c.607A>C
(SGCE)
|
NP_001349737.1:p.Ile203Leu
|
|
|
NM_001362809.2:c.757A>C
(SGCE)
|
NP_001349738.1:p.Ile253Leu
|
|
|
NM_003919.3:c.880A>C
(SGCE)
MANE Select
|
NP_003910.1:p.Ile294Leu
|
|
