|
ENST00000681966.1:c.*244_*245del
|
ENSP00000507572.1:n.*244_*245del
|
|
|
ENST00000681982.1:c.990_991del
|
ENSP00000508065.1:p.Leu331AspfsTer3
|
|
|
ENST00000682125.1:n.1035_1036del
|
|
|
|
ENST00000682446.1:c.990_991del
|
ENSP00000506813.1:p.Leu331AspfsTer3
|
|
|
ENST00000682494.1:n.3890_3891del
|
|
|
|
ENST00000682604.1:n.1233_1234del
|
|
|
|
ENST00000683586.1:c.990_991del
|
ENSP00000507893.1:p.Leu331AspfsTer3
|
|
|
ENST00000683599.1:n.39_40del
|
|
|
|
ENST00000683699.1:c.819+10883_819+10884del
|
ENSP00000507823.1:n.819+10883_819+10884del
|
|
|
ENST00000683700.1:c.843_844del
|
ENSP00000508248.1:p.Leu282AspfsTer3
|
|
|
ENST00000684065.1:c.*466+10883_*466+10884del
|
ENSP00000508347.1:n.*466+10883_*466+10884del
|
|
|
ENST00000684094.1:n.1632_1633del
|
|
|
|
ENST00000309576.11:c.990_991del
|
ENSP00000312472.7:p.Leu331AspfsTer3
|
|
|
ENST00000396999.3:c.*578_*579del
|
ENSP00000380195.3:n.*578_*579del
|
|
|
ENST00000397000.6:c.729+10883_729+10884del
|
ENSP00000380196.2:n.729+10883_729+10884del
|
|
|
ENST00000397010.7:c.990_991del
|
ENSP00000380205.3:p.Leu331AspfsTer3
|
|
|
ENST00000397015.7:c.990_991del
|
ENSP00000380210.3:p.Leu331AspfsTer3
|
|
|
ENST00000397026.7:c.990_991del
|
ENSP00000380221.3:p.Leu331AspfsTer3
|
|
|
ENST00000643197.2:c.990_991del
|
ENSP00000495840.2:p.Leu331AspfsTer3
|
|
|
ENST00000643888.2:c.990_991del
|
ENSP00000494934.2:p.Leu331AspfsTer3
|
|
|
ENST00000644622.2:c.990_991del
|
ENSP00000494873.2:p.Leu331AspfsTer3
|
|
|
ENST00000651735.1:c.990_991del
MANE Select
|
ENSP00000498313.1:p.Leu331AspfsTer3
|
|
|
ENST00000652098.1:c.444_445del
|
ENSP00000498300.1:p.Leu149AspfsTer3
|
|
|
ENST00000652431.1:c.678_679del
|
ENSP00000498717.1:p.Leu227AspfsTer3
|
|
|
ENST00000652522.1:c.990_991del
|
ENSP00000498500.1:p.Leu331AspfsTer3
|
|
|
ENST00000287820.10:c.1080_1081del
|
ENSP00000287820.6:p.Leu361AspfsTer3
|
|
|
ENST00000309576.10:c.996_997del
|
ENSP00000312472.6:p.Leu333AspfsTer3
|
|
|
ENST00000396999.2:c.1139_1140del
|
ENSP00000380195.2:n.1139_1140del
|
|
|
ENST00000397000.5:c.735+10883_735+10884del
|
ENSP00000380196.1:n.735+10883_735+10884del
|
|
|
ENST00000397010.6:c.996_997del
|
ENSP00000380205.2:p.Leu333AspfsTer3
|
|
|
ENST00000397012.6:c.996_997del
|
ENSP00000380207.2:p.Leu333AspfsTer3
|
|
|
ENST00000397015.6:c.996_997del
|
ENSP00000380210.2:p.Leu333AspfsTer3
|
|
|
ENST00000397023.5:c.*1218_*1219del
|
ENSP00000380218.1:n.*1218_*1219del
|
|
|
ENST00000397026.6:c.1014_1015del
|
ENSP00000380221.2:p.Leu339AspfsTer3
|
|
|
NM_005037.5:c.996_997del
|
NP_005028.4:p.Leu333AspfsTer3
|
|
|
NM_015869.4:c.1080_1081del
|
NP_056953.2:p.Leu361AspfsTer3
|
|
|
NM_138711.3:c.996_997del
|
NP_619725.2:p.Leu333AspfsTer3
|
|
|
NM_138712.3:c.996_997del
|
NP_619726.2:p.Leu333AspfsTer3
|
|
|
XM_011533840.1:c.996_997del
|
XP_011532142.1:p.Leu333AspfsTer3
|
|
|
XM_011533841.1:c.996_997del
|
XP_011532143.1:p.Leu333AspfsTer3
|
|
|
XM_011533842.1:c.1080_1081del
|
XP_011532144.1:p.Leu361AspfsTer3
|
|
|
XM_011533843.1:c.819+10883_819+10884del
|
XP_011532145.1:n.819+10883_819+10884del
|
|
|
XM_011533844.1:c.735+10883_735+10884del
|
XP_011532146.1:n.735+10883_735+10884del
|
|
|
NM_001330615.1:c.735+10883_735+10884del
|
NP_001317544.1:n.735+10883_735+10884del
|
|
|
NM_001354666.1:c.996_997del
|
NP_001341595.1:p.Leu333AspfsTer3
|
|
|
NM_001354667.1:c.996_997del
|
NP_001341596.1:p.Leu333AspfsTer3
|
|
|
NM_001354669.1:c.363_364del
|
NP_001341598.1:p.Leu122AspfsTer3
|
|
|
XM_011533842.2:c.1080_1081del
|
XP_011532144.1:p.Leu361AspfsTer3
|
|
|
XM_011533843.2:c.819+10883_819+10884del
|
XP_011532145.1:n.819+10883_819+10884del
|
|
|
XM_024453604.1:c.996_997del
|
XP_024309372.1:p.Leu333AspfsTer3
|
|
|
XM_024453605.1:c.996_997del
|
XP_024309373.1:p.Leu333AspfsTer3
|
|
|
XM_024453606.1:c.996_997del
|
XP_024309374.1:p.Leu333AspfsTer3
|
|
|
NM_001330615.2:c.735+10883_735+10884del
|
NP_001317544.1:n.735+10883_735+10884del
|
|
|
NM_001354666.2:c.996_997del
|
NP_001341595.1:p.Leu333AspfsTer3
|
|
|
NM_001354667.2:c.996_997del
|
NP_001341596.1:p.Leu333AspfsTer3
|
|
|
NM_001354669.2:c.363_364del
|
NP_001341598.1:p.Leu122AspfsTer3
|
|
|
NM_001374261.1:c.735+10883_735+10884del
|
NP_001361190.1:n.735+10883_735+10884del
|
|
|
NM_001374262.1:c.735+10883_735+10884del
|
NP_001361191.1:n.735+10883_735+10884del
|
|
|
NM_001374263.1:c.996_997del
|
NP_001361192.1:p.Leu333AspfsTer3
|
|
|
NM_001374264.1:c.996_997del
|
NP_001361193.1:p.Leu333AspfsTer3
|
|
|
NM_001374265.1:c.819+10883_819+10884del
|
NP_001361194.1:n.819+10883_819+10884del
|
|
|
NM_001374266.1:c.653+10965_653+10966del
|
NP_001361195.1:n.653+10965_653+10966del
|
|
|
NM_005037.6:c.996_997del
|
NP_005028.4:p.Leu333AspfsTer3
|
|
|
NM_015869.5:c.1080_1081del
|
NP_056953.2:p.Leu361AspfsTer3
|
|
|
NM_138711.4:c.996_997del
|
NP_619725.2:p.Leu333AspfsTer3
|
|
|
NM_138712.4:c.996_997del
|
NP_619726.2:p.Leu333AspfsTer3
|
|
|
NM_001330615.4:c.729+10883_729+10884del
|
NP_001317544.2:n.729+10883_729+10884del
|
|
|
NM_001354666.3:c.990_991del
|
NP_001341595.2:p.Leu331AspfsTer3
|
|
|
NM_001354667.3:c.990_991del
|
NP_001341596.2:p.Leu331AspfsTer3
|
|
|
NM_001374261.3:c.729+10883_729+10884del
|
NP_001361190.2:n.729+10883_729+10884del
|
|
|
NM_001374262.3:c.729+10883_729+10884del
|
NP_001361191.2:n.729+10883_729+10884del
|
|
|
NM_001374263.2:c.990_991del
|
NP_001361192.2:p.Leu331AspfsTer3
|
|
|
NM_001374264.2:c.990_991del
|
NP_001361193.2:p.Leu331AspfsTer3
|
|
|
NM_005037.7:c.990_991del
|
NP_005028.5:p.Leu331AspfsTer3
|
|
|
NM_138711.6:c.990_991del
MANE Select
|
NP_619725.3:p.Leu331AspfsTer3
|
|
|
NM_138712.5:c.990_991del
|
NP_619726.3:p.Leu331AspfsTer3
|
|
