|
NM_000199.5:c.1040C>T
(SGSH)
MANE Select
|
NP_000190.1:p.Ser347Phe
|
|
ENST00000326317.11:c.1040C>T
(SGSH)
MANE Select
|
ENSP00000314606.6:p.Ser347Phe
|
|
NM_000199.3:c.1040C>T
(SGSH)
|
NP_000190.1:p.Ser347Phe
|
|
NM_000199.4:c.1040C>T
(SGSH)
|
NP_000190.1:p.Ser347Phe
|
|
NM_001352921.1:c.*127C>T
(SGSH)
|
NP_001339850.1:n.*127C>T
|
|
NM_001352921.2:c.*127C>T
(SGSH)
|
NP_001339850.1:n.*127C>T
|
|
NM_001352921.3:c.*127C>T
(SGSH)
|
NP_001339850.1:n.*127C>T
|
|
NM_001352922.1:c.*90C>T
(SGSH)
|
NP_001339851.1:n.*90C>T
|
|
NM_001352922.2:c.*90C>T
(SGSH)
|
NP_001339851.1:n.*90C>T
|
|
NR_148201.1:n.1021C>T
(SGSH)
|
|
|
NR_148201.2:n.954C>T
(SGSH)
|
|
|
ENST00000326317.10:c.1040C>T
(SGSH)
|
ENSP00000314606.6:p.Ser347Phe
|
|
ENST00000572257.5:c.551+1150C>T
(SGSH)
|
|
|
ENST00000573150.5:c.*250C>T
(SGSH)
|
ENSP00000459280.1:n.*250C>T
|
|
ENST00000575282.5:n.3923C>T
(SGSH)
|
|
|
ENST00000576856.1:c.294C>T
(SGSH)
|
ENSP00000460720.1:n.294C>T
|
|
ENST00000703570.1:n.2844+1663G>A
(CARD14)
|
|
|
XM_005257582.2:c.*127C>T
(SGSH)
|
XP_005257639.1:n.*127C>T
|
|
XM_005257583.3:c.949+1150C>T
(SGSH)
|
XP_005257640.1:n.949+1150C>T
|
|
XM_005257583.4:c.949+1150C>T
(SGSH)
|
XP_005257640.1:n.949+1150C>T
|
|
XM_017024952.1:c.*944C>T
(SGSH)
|
XP_016880441.1:n.*944C>T
|
|
XR_001752585.1:n.1060C>T
(SGSH)
|
|
|
XR_001752586.1:n.969+1150C>T
(SGSH)
|
|
|
XR_001752587.1:n.969+1150C>T
(SGSH)
|
|
|
XR_001752588.1:n.969+1150C>T
(SGSH)
|
|
|
XR_001752589.1:n.969+1150C>T
(SGSH)
|
|
|
XR_001752590.1:n.969+1150C>T
(SGSH)
|
|
|
XR_001752591.1:n.969+1150C>T
(SGSH)
|
|
|
XR_001752592.1:n.969+1150C>T
(SGSH)
|
|
|
XR_002958057.1:n.1024+948C>T
(SGSH)
|
|
