|
ENST00000318312.12:c.871C>T
(BBS1)
MANE Select
|
ENSP00000317469.7:p.Gln291Ter
|
|
|
ENST00000318312.11:c.871C>T
(BBS1)
|
ENSP00000317469.7:p.Gln291Ter
|
|
|
ENST00000393994.4:c.724-2627C>T
(BBS1)
|
ENSP00000377563.2:n.724-2627C>T
|
|
|
ENST00000419755.3:c.982C>T
|
ENSP00000398526.3:p.Gln328Ter
|
|
|
ENST00000455748.6:c.580C>T
(BBS1)
|
ENSP00000405764.2:p.Gln194Ter
|
|
|
ENST00000524458.5:c.*660C>T
(BBS1)
|
ENSP00000436195.1:n.*660C>T
|
|
|
ENST00000524884.1:n.556C>T
(BBS1)
|
|
|
|
ENST00000526760.5:c.*578C>T
(BBS1)
|
ENSP00000432140.1:n.*578C>T
|
|
|
ENST00000526986.5:c.*22-2030G>A
(ZDHHC24)
|
ENSP00000431321.1:n.*22-2030G>A
|
|
|
ENST00000527959.1:n.15C>T
(BBS1)
|
|
|
|
ENST00000529766.5:n.878C>T
(BBS1)
|
|
|
|
ENST00000529895.1:n.320C>T
(BBS1)
|
|
|
|
ENST00000529955.5:n.842C>T
(BBS1)
|
|
|
|
ENST00000532908.5:c.*531C>T
(BBS1)
|
ENSP00000431866.1:n.*531C>T
|
|
|
ENST00000533557.5:c.*725C>T
(BBS1)
|
ENSP00000434619.1:n.*725C>T
|
|
|
ENST00000533644.5:c.*329C>T
(BBS1)
|
ENSP00000436073.1:n.*329C>T
|
|
|
ENST00000534073.5:c.*143+659G>A
(ZDHHC24)
|
ENSP00000436503.1:n.*143+659G>A
|
|
|
ENST00000630659.2:c.*578C>T
(BBS1)
|
ENSP00000486455.1:n.*578C>T
|
|
|
NM_024649.4:c.871C>T
(BBS1)
|
NP_078925.3:p.Gln291Ter
|
|
|
XM_005273874.3:c.*22-2030G>A
(ZDHHC24)
|
XP_005273931.1:n.*22-2030G>A
|
|
|
XR_949860.1:n.808+659G>A
(ZDHHC24)
|
|
|
|
NM_001348571.1:c.*22-2030G>A
(ZDHHC24)
|
NP_001335500.1:n.*22-2030G>A
|
|
|
XM_005273874.4:c.*22-2030G>A
(ZDHHC24)
|
XP_005273931.1:n.*22-2030G>A
|
|
|
XR_001747823.2:n.862+659G>A
(ZDHHC24)
|
|
|
|
XR_949860.3:n.933+659G>A
(ZDHHC24)
|
|
|
|
NM_024649.5:c.871C>T
(BBS1)
MANE Select
|
NP_078925.3:p.Gln291Ter
|
|
|
NM_001348571.2:c.*22-2030G>A
(ZDHHC24)
|
NP_001335500.1:n.*22-2030G>A
|
|
