|
NM_000199.5:c.1317C>T
(SGSH)
MANE Select
|
NP_000190.1:p.Tyr439=
|
|
ENST00000326317.11:c.1317C>T
(SGSH)
MANE Select
|
ENSP00000314606.6:p.Tyr439=
|
|
NM_000199.3:c.1317C>T
(SGSH)
|
NP_000190.1:p.Tyr439=
|
|
NM_000199.4:c.1317C>T
(SGSH)
|
NP_000190.1:p.Tyr439=
|
|
NM_001352921.1:c.*404C>T
(SGSH)
|
NP_001339850.1:n.*404C>T
|
|
NM_001352921.2:c.*404C>T
(SGSH)
|
NP_001339850.1:n.*404C>T
|
|
NM_001352921.3:c.*404C>T
(SGSH)
|
NP_001339850.1:n.*404C>T
|
|
NM_001352922.1:c.*367C>T
(SGSH)
|
NP_001339851.1:n.*367C>T
|
|
NM_001352922.2:c.*367C>T
(SGSH)
|
NP_001339851.1:n.*367C>T
|
|
NR_148201.1:n.1298C>T
(SGSH)
|
|
|
NR_148201.2:n.1231C>T
(SGSH)
|
|
|
ENST00000326317.10:c.1317C>T
(SGSH)
|
ENSP00000314606.6:p.Tyr439=
|
|
ENST00000572257.5:c.551+1427C>T
(SGSH)
|
|
|
ENST00000573150.5:c.*527C>T
(SGSH)
|
ENSP00000459280.1:n.*527C>T
|
|
ENST00000575282.5:n.4200C>T
(SGSH)
|
|
|
ENST00000576856.1:c.571C>T
(SGSH)
|
ENSP00000460720.1:n.571C>T
|
|
ENST00000703570.1:n.2844+1386G>A
(CARD14)
|
|
|
XM_005257583.3:c.949+1427C>T
(SGSH)
|
XP_005257640.1:n.949+1427C>T
|
|
XM_005257583.4:c.949+1427C>T
(SGSH)
|
XP_005257640.1:n.949+1427C>T
|
|
XM_017024952.1:c.*1221C>T
(SGSH)
|
XP_016880441.1:n.*1221C>T
|
|
XR_001752585.1:n.1337C>T
(SGSH)
|
|
|
XR_001752586.1:n.969+1427C>T
(SGSH)
|
|
|
XR_001752587.1:n.969+1427C>T
(SGSH)
|
|
|
XR_001752588.1:n.969+1427C>T
(SGSH)
|
|
|
XR_001752589.1:n.969+1427C>T
(SGSH)
|
|
|
XR_001752590.1:n.969+1427C>T
(SGSH)
|
|
|
XR_001752591.1:n.969+1427C>T
(SGSH)
|
|
|
XR_001752592.1:n.969+1427C>T
(SGSH)
|
|
|
XR_002958057.1:n.1024+1225C>T
(SGSH)
|
|
