|
ENST00000415788.3:c.727del
(SGCE)
|
ENSP00000405313.2:p.Arg243GlyfsTer12
|
|
|
ENST00000428696.7:c.598del
(SGCE)
|
ENSP00000397536.3:p.Arg200GlyfsTer12
|
|
|
ENST00000437425.7:c.496del
(SGCE)
|
ENSP00000394061.2:p.Arg166GlyfsTer12
|
|
|
ENST00000445866.7:c.619del
(SGCE)
|
ENSP00000398930.2:p.Arg207GlyfsTer12
|
|
|
ENST00000447873.6:c.619del
(SGCE)
|
ENSP00000388734.1:p.Arg207GlyfsTer12
|
|
|
ENST00000450385.6:c.*416del
(SGCE)
|
ENSP00000398344.2:n.*416del
|
|
|
ENST00000462731.2:n.164del
(SGCE)
|
|
|
|
ENST00000642169.1:c.*44+4524del
(SGCE)
|
ENSP00000496346.1:n.*44+4524del
|
|
|
ENST00000642291.1:c.480del
(SGCE)
|
|
|
|
ENST00000642353.1:n.590del
(SGCE)
|
|
|
|
ENST00000642394.1:c.496del
(SGCE)
|
ENSP00000493751.1:p.Arg166GlyfsTer12
|
|
|
ENST00000642441.1:c.700del
(SGCE)
|
ENSP00000495994.1:p.Arg234GlyfsTer12
|
|
|
ENST00000642497.1:n.1392del
(SGCE)
|
|
|
|
ENST00000642564.1:n.719del
(SGCE)
|
|
|
|
ENST00000642638.1:c.*657del
(SGCE)
|
ENSP00000495555.1:n.*657del
|
|
|
ENST00000642707.1:c.727del
(SGCE)
|
ENSP00000495270.1:p.Arg243GlyfsTer12
|
|
|
ENST00000642754.1:n.5491del
(SGCE)
|
|
|
|
ENST00000642759.1:n.708del
(SGCE)
|
|
|
|
ENST00000642802.1:n.441del
(SGCE)
|
|
|
|
ENST00000642904.1:n.707del
(SGCE)
|
|
|
|
ENST00000642933.1:c.619del
(SGCE)
|
ENSP00000496237.1:p.Arg207GlyfsTer12
|
|
|
ENST00000643020.1:c.545del
(SGCE)
|
|
|
|
ENST00000643041.1:c.619del
(SGCE)
|
ENSP00000495311.1:p.Arg207GlyfsTer12
|
|
|
ENST00000643128.1:c.619del
(SGCE)
|
ENSP00000496678.1:p.Arg207GlyfsTer12
|
|
|
ENST00000643193.1:c.619del
(SGCE)
|
ENSP00000496559.1:p.Arg207GlyfsTer12
|
|
|
ENST00000643206.1:c.*200del
(SGCE)
|
ENSP00000496172.1:n.*200del
|
|
|
ENST00000643272.1:c.727del
(SGCE)
|
ENSP00000494488.1:p.Arg243GlyfsTer12
|
|
|
ENST00000643324.1:n.1510del
(SGCE)
|
|
|
|
ENST00000643491.1:n.547del
(SGCE)
|
|
|
|
ENST00000643568.1:c.300del
(SGCE)
|
|
|
|
ENST00000643605.1:c.*606del
(SGCE)
|
ENSP00000496480.1:n.*606del
|
|
|
ENST00000643610.1:c.619del
(SGCE)
|
ENSP00000494350.1:p.Arg207GlyfsTer12
|
|
|
ENST00000643714.1:n.687del
(SGCE)
|
|
|
|
ENST00000643903.1:c.619del
(SGCE)
|
ENSP00000495165.1:p.Arg207GlyfsTer12
|
|
|
ENST00000643991.1:c.528del
(SGCE)
|
|
|
|
ENST00000644087.1:c.*696del
(SGCE)
|
ENSP00000495249.1:n.*696del
|
|
|
ENST00000644116.1:c.619del
(SGCE)
|
ENSP00000495276.1:p.Arg207GlyfsTer12
|
|
|
ENST00000644122.1:c.700del
(SGCE)
|
ENSP00000495236.1:p.Arg234GlyfsTer12
|
|
|
ENST00000644201.1:c.445+4524del
(SGCE)
|
ENSP00000495044.1:n.445+4524del
|
|
|
ENST00000644268.1:n.1239del
(SGCE)
|
|
|
|
ENST00000644373.1:n.1655del
(SGCE)
|
|
|
|
ENST00000644375.1:c.685del
(SGCE)
|
ENSP00000494315.1:p.Arg229GlyfsTer12
|
|
|
ENST00000644533.1:n.1374del
(SGCE)
|
|
|
|
ENST00000644551.1:c.700del
(SGCE)
|
ENSP00000493981.1:p.Arg234GlyfsTer12
|
|
|
ENST00000644609.1:c.619del
(SGCE)
|
ENSP00000496045.1:p.Arg207GlyfsTer12
|
|
|
ENST00000644639.1:c.*280del
(SGCE)
|
ENSP00000496391.1:n.*280del
|
|
|
ENST00000644658.1:c.183del
(SGCE)
|
|
|
|
ENST00000644674.1:n.520del
(SGCE)
|
|
|
|
ENST00000644681.1:c.346del
(SGCE)
|
ENSP00000496455.1:p.Arg116GlyfsTer12
|
|
|
ENST00000644682.1:c.683del
(SGCE)
|
|
|
|
ENST00000644816.1:c.619del
(SGCE)
|
ENSP00000494898.1:p.Arg207GlyfsTer12
|
|
|
ENST00000644966.1:c.598del
(SGCE)
|
ENSP00000495105.1:n.598del
|
|
|
ENST00000645101.1:c.808del
(SGCE)
|
ENSP00000494975.1:p.Arg270GlyfsTer12
|
|
|
ENST00000645109.1:c.727del
(SGCE)
|
ENSP00000495931.1:p.Arg243GlyfsTer12
|
|
|
ENST00000645262.1:c.496del
(SGCE)
|
ENSP00000494164.1:p.Arg166GlyfsTer12
|
|
|
ENST00000645390.1:n.673del
(SGCE)
|
|
|
|
ENST00000645445.1:c.593del
(SGCE)
|
|
|
|
ENST00000645535.1:c.346del
(SGCE)
|
ENSP00000493984.1:p.Arg116GlyfsTer12
|
|
|
ENST00000645579.1:n.1539del
(SGCE)
|
|
|
|
ENST00000645624.1:n.182del
(SGCE)
|
|
|
|
ENST00000645725.1:c.700del
(SGCE)
|
ENSP00000495480.1:p.Arg234GlyfsTer12
|
|
|
ENST00000645920.1:c.*426del
(SGCE)
|
ENSP00000494490.1:n.*426del
|
|
|
ENST00000646098.1:c.595del
(SGCE)
|
ENSP00000495591.1:p.Arg199GlyfsTer12
|
|
|
ENST00000646119.1:c.593del
(SGCE)
|
|
|
|
ENST00000646137.1:c.619del
(SGCE)
|
ENSP00000495199.1:p.Arg207GlyfsTer12
|
|
|
ENST00000646265.1:c.708del
(SGCE)
|
|
|
|
ENST00000646301.1:c.592del
(SGCE)
|
|
|
|
ENST00000646434.1:c.868del
(SGCE)
|
|
|
|
ENST00000646466.1:c.*549del
(SGCE)
|
ENSP00000493511.1:n.*549del
|
|
|
ENST00000646489.1:c.727del
(SGCE)
|
ENSP00000496268.1:p.Arg243GlyfsTer12
|
|
|
ENST00000646559.1:c.*549del
(SGCE)
|
ENSP00000495838.1:n.*549del
|
|
|
ENST00000646600.1:c.*549del
(SGCE)
|
ENSP00000494041.1:n.*549del
|
|
|
ENST00000646682.1:c.*270+4524del
(SGCE)
|
ENSP00000496461.1:n.*270+4524del
|
|
|
ENST00000646879.1:c.619del
(SGCE)
|
ENSP00000495209.1:p.Arg207GlyfsTer12
|
|
|
ENST00000646910.1:n.652del
(SGCE)
|
|
|
|
ENST00000646943.1:c.619del
(SGCE)
|
ENSP00000494666.1:p.Arg207GlyfsTer12
|
|
|
ENST00000647018.1:c.727del
(SGCE)
|
ENSP00000493722.1:p.Arg243GlyfsTer12
|
|
|
ENST00000647031.1:n.3233del
(SGCE)
|
|
|
|
ENST00000647048.1:c.443del
(SGCE)
|
|
|
|
ENST00000647096.1:c.727del
(SGCE)
|
ENSP00000494192.1:p.Arg243GlyfsTer12
|
|
|
ENST00000647110.1:c.625del
(SGCE)
|
ENSP00000494738.1:p.Arg209GlyfsTer12
|
|
|
ENST00000647334.1:c.725del
(SGCE)
|
|
|
|
ENST00000647351.1:c.700del
(SGCE)
|
ENSP00000494556.1:p.Arg234GlyfsTer12
|
|
|
ENST00000647533.1:n.1318del
(SGCE)
|
|
|
|
ENST00000648936.2:c.619del
(SGCE)
MANE Select
|
ENSP00000497130.1:p.Arg207GlyfsTer12
|
|
|
ENST00000265735.11:c.619del
(SGCE)
|
ENSP00000265735.6:p.Arg207GlyfsTer12
|
|
|
ENST00000415788.2:c.727del
(SGCE)
|
ENSP00000405313.2:p.Arg243GlyfsTer12
|
|
|
ENST00000428696.6:c.619del
(SGCE)
|
ENSP00000397536.2:p.Arg207GlyfsTer12
|
|
|
ENST00000437425.6:c.496del
(SGCE)
|
ENSP00000394061.2:p.Arg166GlyfsTer12
|
|
|
ENST00000445866.6:c.619del
(SGCE)
|
ENSP00000398930.2:p.Arg207GlyfsTer12
|
|
|
ENST00000447873.5:c.619del
(SGCE)
|
ENSP00000388734.1:p.Arg207GlyfsTer12
|
|
|
NM_001099400.1:c.619del
(SGCE)
|
NP_001092870.1:p.Arg207GlyfsTer12
|
|
|
NM_001099401.1:c.619del
(SGCE)
|
NP_001092871.1:p.Arg207GlyfsTer12
|
|
|
NM_001301139.1:c.496del
(SGCE)
|
NP_001288068.1:p.Arg166GlyfsTer12
|
|
|
NM_003919.2:c.619del
(SGCE)
|
NP_003910.1:p.Arg207GlyfsTer12
|
|
|
XM_005250675.3:c.727del
(SGCE)
|
XP_005250732.1:p.Arg243GlyfsTer12
|
|
|
XM_005250677.3:c.727del
(SGCE)
|
XP_005250734.1:p.Arg243GlyfsTer12
|
|
|
XM_011516495.1:c.2128-12515del
(CASD1)
|
XP_011514797.1:n.2128-12515del
|
|
|
XM_011516663.1:c.727del
(SGCE)
|
XP_011514965.1:p.Arg243GlyfsTer12
|
|
|
XM_011516664.1:c.727del
(SGCE)
|
XP_011514966.1:p.Arg243GlyfsTer12
|
|
|
XM_011516665.1:c.619del
(SGCE)
|
XP_011514967.1:p.Arg207GlyfsTer12
|
|
|
XM_011516666.1:c.619del
(SGCE)
|
XP_011514968.1:p.Arg207GlyfsTer12
|
|
|
XM_011516667.1:c.532del
(SGCE)
|
XP_011514969.1:p.Arg178GlyfsTer12
|
|
|
XM_011516668.1:c.496del
(SGCE)
|
XP_011514970.1:p.Arg166GlyfsTer12
|
|
|
XM_011516669.1:c.346del
(SGCE)
|
XP_011514971.1:p.Arg116GlyfsTer12
|
|
|
NM_001346713.1:c.727del
(SGCE)
|
NP_001333642.1:p.Arg243GlyfsTer12
|
|
|
NM_001346715.1:c.727del
(SGCE)
|
NP_001333644.1:p.Arg243GlyfsTer12
|
|
|
NM_001346717.1:c.619del
(SGCE)
|
NP_001333646.1:p.Arg207GlyfsTer12
|
|
|
NM_001346719.1:c.532del
(SGCE)
|
NP_001333648.1:p.Arg178GlyfsTer12
|
|
|
NM_001346720.1:c.346del
(SGCE)
|
NP_001333649.1:p.Arg116GlyfsTer12
|
|
|
NM_001362807.1:c.532del
(SGCE)
|
NP_001349736.1:p.Arg178GlyfsTer12
|
|
|
NM_001362808.1:c.346del
(SGCE)
|
NP_001349737.1:p.Arg116GlyfsTer12
|
|
|
NM_001362809.1:c.496del
(SGCE)
|
NP_001349738.1:p.Arg166GlyfsTer12
|
|
|
XM_011516495.2:c.2128-12515del
(CASD1)
|
XP_011514797.1:n.2128-12515del
|
|
|
XM_011516663.2:c.727del
(SGCE)
|
XP_011514965.1:p.Arg243GlyfsTer12
|
|
|
XM_011516664.2:c.727del
(SGCE)
|
XP_011514966.1:p.Arg243GlyfsTer12
|
|
|
XM_011516665.3:c.619del
(SGCE)
|
XP_011514967.1:p.Arg207GlyfsTer12
|
|
|
XM_011516666.3:c.619del
(SGCE)
|
XP_011514968.1:p.Arg207GlyfsTer12
|
|
|
XM_011516667.2:c.532del
(SGCE)
|
XP_011514969.1:p.Arg178GlyfsTer12
|
|
|
XM_011516669.3:c.346del
(SGCE)
|
XP_011514971.1:p.Arg116GlyfsTer12
|
|
|
XM_017012763.1:c.532del
(SGCE)
|
XP_016868252.1:p.Arg178GlyfsTer12
|
|
|
XM_017012767.1:c.346del
(SGCE)
|
XP_016868256.1:p.Arg116GlyfsTer12
|
|
|
XM_024446985.1:c.496del
(SGCE)
|
XP_024302753.1:p.Arg166GlyfsTer12
|
|
|
XM_024446986.1:c.496del
(SGCE)
|
XP_024302754.1:p.Arg166GlyfsTer12
|
|
|
NM_001099400.2:c.619del
(SGCE)
|
NP_001092870.1:p.Arg207GlyfsTer12
|
|
|
NM_001099401.2:c.619del
(SGCE)
|
NP_001092871.1:p.Arg207GlyfsTer12
|
|
|
NM_001301139.2:c.496del
(SGCE)
|
NP_001288068.1:p.Arg166GlyfsTer12
|
|
|
NM_001346713.2:c.727del
(SGCE)
|
NP_001333642.1:p.Arg243GlyfsTer12
|
|
|
NM_001346715.2:c.727del
(SGCE)
|
NP_001333644.1:p.Arg243GlyfsTer12
|
|
|
NM_001346717.2:c.619del
(SGCE)
|
NP_001333646.1:p.Arg207GlyfsTer12
|
|
|
NM_001346719.2:c.532del
(SGCE)
|
NP_001333648.1:p.Arg178GlyfsTer12
|
|
|
NM_001346720.2:c.346del
(SGCE)
|
NP_001333649.1:p.Arg116GlyfsTer12
|
|
|
NM_001362807.2:c.532del
(SGCE)
|
NP_001349736.1:p.Arg178GlyfsTer12
|
|
|
NM_001362808.2:c.346del
(SGCE)
|
NP_001349737.1:p.Arg116GlyfsTer12
|
|
|
NM_001362809.2:c.496del
(SGCE)
|
NP_001349738.1:p.Arg166GlyfsTer12
|
|
|
NM_003919.3:c.619del
(SGCE)
MANE Select
|
NP_003910.1:p.Arg207GlyfsTer12
|
|
