|
ENST00000318312.12:c.1333_1336del
(BBS1)
MANE Select
|
ENSP00000317469.7:p.Gly445ProfsTer30
|
|
|
ENST00000318312.11:c.1333_1336del
(BBS1)
|
ENSP00000317469.7:p.Gly445ProfsTer30
|
|
|
ENST00000393994.4:c.946_949del
(BBS1)
|
ENSP00000377563.2:p.Gly316ProfsTer30
|
|
|
ENST00000419755.3:c.1444_1447del
|
ENSP00000398526.3:p.Gly482ProfsTer30
|
|
|
ENST00000455748.6:c.1042_1045del
(BBS1)
|
ENSP00000405764.2:p.Gly348ProfsTer30
|
|
|
ENST00000526760.5:c.*1040_*1043del
(BBS1)
|
ENSP00000432140.1:n.*1040_*1043del
|
|
|
ENST00000526986.5:c.*21+132_*21+135del
(ZDHHC24)
|
ENSP00000431321.1:n.*21+132_*21+135del
|
|
|
ENST00000527959.1:n.477_480del
(BBS1)
|
|
|
|
ENST00000529766.5:n.1340_1343del
(BBS1)
|
|
|
|
ENST00000529955.5:n.1304_1307del
(BBS1)
|
|
|
|
ENST00000534073.5:c.*21+132_*21+135del
(ZDHHC24)
|
ENSP00000436503.1:n.*21+132_*21+135del
|
|
|
ENST00000630659.2:c.*1040_*1043del
(BBS1)
|
ENSP00000486455.1:n.*1040_*1043del
|
|
|
NM_024649.4:c.1333_1336del
(BBS1)
|
NP_078925.3:p.Gly445ProfsTer30
|
|
|
XM_005273874.3:c.*21+132_*21+135del
(ZDHHC24)
|
XP_005273931.1:n.*21+132_*21+135del
|
|
|
XM_011544894.1:c.*21+132_*21+135del
(ZDHHC24)
|
XP_011543196.1:n.*21+132_*21+135del
|
|
|
XM_011544895.1:c.560-2528_560-2525del
(ZDHHC24)
|
XP_011543197.1:n.560-2528_560-2525del
|
|
|
XR_949860.1:n.686+132_686+135del
(ZDHHC24)
|
|
|
|
NM_001348571.1:c.*21+132_*21+135del
(ZDHHC24)
|
NP_001335500.1:n.*21+132_*21+135del
|
|
|
XM_005273874.4:c.*21+132_*21+135del
(ZDHHC24)
|
XP_005273931.1:n.*21+132_*21+135del
|
|
|
XM_011544894.2:c.*21+132_*21+135del
(ZDHHC24)
|
XP_011543196.1:n.*21+132_*21+135del
|
|
|
XR_001747823.2:n.741-2528_741-2525del
(ZDHHC24)
|
|
|
|
XR_949860.3:n.811+132_811+135del
(ZDHHC24)
|
|
|
|
NM_024649.5:c.1333_1336del
(BBS1)
MANE Select
|
NP_078925.3:p.Gly445ProfsTer30
|
|
|
NM_001348571.2:c.*21+132_*21+135del
(ZDHHC24)
|
NP_001335500.1:n.*21+132_*21+135del
|
|
