|
ENST00000703570.1:n.2844+1273_2844+1274del
(CARD14)
|
|
|
|
ENST00000326317.11:c.1429_1430del
(SGSH)
MANE Select
|
ENSP00000314606.6:p.Asp477ProfsTer24
|
|
|
ENST00000326317.10:c.1429_1430del
(SGSH)
|
ENSP00000314606.6:p.Asp477ProfsTer24
|
|
|
ENST00000572257.5:c.551+1539_551+1540del
(SGSH)
|
|
|
|
ENST00000573150.5:c.*639_*640del
(SGSH)
|
ENSP00000459280.1:n.*639_*640del
|
|
|
ENST00000575282.5:n.4312_4313del
(SGSH)
|
|
|
|
ENST00000576856.1:c.683_684del
(SGSH)
|
ENSP00000460720.1:n.683_684del
|
|
|
NM_000199.3:c.1429_1430del
(SGSH)
|
NP_000190.1:p.Asp477ProfsTer24
|
|
|
XM_005257583.3:c.949+1539_949+1540del
(SGSH)
|
XP_005257640.1:n.949+1539_949+1540del
|
|
|
NM_000199.4:c.1429_1430del
(SGSH)
|
NP_000190.1:p.Asp477ProfsTer24
|
|
|
NM_001352921.1:c.*516_*517del
(SGSH)
|
NP_001339850.1:n.*516_*517del
|
|
|
NM_001352922.1:c.*479_*480del
(SGSH)
|
NP_001339851.1:n.*479_*480del
|
|
|
NR_148201.1:n.1410_1411del
(SGSH)
|
|
|
|
XM_005257583.4:c.949+1539_949+1540del
(SGSH)
|
XP_005257640.1:n.949+1539_949+1540del
|
|
|
XM_017024952.1:c.*1333_*1334del
(SGSH)
|
XP_016880441.1:n.*1333_*1334del
|
|
|
XR_001752585.1:n.1449_1450del
(SGSH)
|
|
|
|
XR_001752586.1:n.969+1539_969+1540del
(SGSH)
|
|
|
|
XR_001752587.1:n.969+1539_969+1540del
(SGSH)
|
|
|
|
XR_001752588.1:n.969+1539_969+1540del
(SGSH)
|
|
|
|
XR_001752589.1:n.969+1539_969+1540del
(SGSH)
|
|
|
|
XR_001752590.1:n.969+1539_969+1540del
(SGSH)
|
|
|
|
XR_001752591.1:n.969+1539_969+1540del
(SGSH)
|
|
|
|
XR_001752592.1:n.969+1539_969+1540del
(SGSH)
|
|
|
|
XR_002958057.1:n.1024+1337_1024+1338del
(SGSH)
|
|
|
|
NM_000199.5:c.1429_1430del
(SGSH)
MANE Select
|
NP_000190.1:p.Asp477ProfsTer24
|
|
|
NM_001352921.2:c.*516_*517del
(SGSH)
|
NP_001339850.1:n.*516_*517del
|
|
|
NM_001352922.2:c.*479_*480del
(SGSH)
|
NP_001339851.1:n.*479_*480del
|
|
|
NR_148201.2:n.1343_1344del
(SGSH)
|
|
|
|
NM_001352921.3:c.*516_*517del
(SGSH)
|
NP_001339850.1:n.*516_*517del
|
|
