|
ENST00000366600.8:c.*1461G>A
(B3GALNT2)
MANE Select
|
ENSP00000355559.3:n.*1461G>A
|
|
|
ENST00000366601.8:c.1378C>T
(TBCE)
|
ENSP00000355560.4:p.Leu460=
|
|
|
ENST00000406207.5:c.1567C>T
(TBCE)
|
ENSP00000384571.1:p.Leu523=
|
|
|
ENST00000465463.2:n.1518C>T
(TBCE)
|
|
|
|
ENST00000472011.6:n.2291C>T
(TBCE)
|
|
|
|
ENST00000543662.4:c.1720C>T
(TBCE)
|
ENSP00000439170.1:p.Leu574=
|
|
|
ENST00000642339.1:c.*1264C>T
(TBCE)
|
ENSP00000495425.1:n.*1264C>T
|
|
|
ENST00000642431.1:c.2144C>T
|
|
|
|
ENST00000642463.1:c.*1465C>T
(TBCE)
|
ENSP00000495007.1:n.*1465C>T
|
|
|
ENST00000642610.2:c.1567C>T
(TBCE)
MANE Select
|
ENSP00000494796.1:p.Leu523=
|
|
|
ENST00000642764.1:n.2398C>T
(TBCE)
|
|
|
|
ENST00000643125.1:c.*582C>T
(TBCE)
|
ENSP00000494102.1:n.*582C>T
|
|
|
ENST00000643142.1:c.*1058C>T
(TBCE)
|
ENSP00000494755.1:n.*1058C>T
|
|
|
ENST00000643410.1:c.*857C>T
|
ENSP00000495030.1:n.*857C>T
|
|
|
ENST00000643487.1:n.2254C>T
(TBCE)
|
|
|
|
ENST00000643524.1:c.*1152C>T
(TBCE)
|
ENSP00000494026.1:n.*1152C>T
|
|
|
ENST00000643615.1:c.*1413C>T
(TBCE)
|
ENSP00000496103.1:n.*1413C>T
|
|
|
ENST00000643994.1:c.*1567C>T
(TBCE)
|
ENSP00000496322.1:n.*1567C>T
|
|
|
ENST00000644037.1:c.*1777C>T
(TBCE)
|
ENSP00000496408.1:n.*1777C>T
|
|
|
ENST00000644055.1:c.*2192C>T
|
ENSP00000496307.1:n.*2192C>T
|
|
|
ENST00000644126.1:n.3468C>T
(TBCE)
|
|
|
|
ENST00000644217.1:c.1633C>T
(TBCE)
|
ENSP00000494646.1:p.Leu545=
|
|
|
ENST00000644578.1:c.1447C>T
(TBCE)
|
ENSP00000495953.1:p.Leu483=
|
|
|
ENST00000644604.1:c.1567C>T
|
ENSP00000495961.1:p.Leu523=
|
|
|
ENST00000644680.1:c.*2088C>T
|
ENSP00000496173.1:n.*2088C>T
|
|
|
ENST00000644838.1:c.*950C>T
(TBCE)
|
ENSP00000495910.1:n.*950C>T
|
|
|
ENST00000644910.1:c.2174C>T
(TBCE)
|
|
|
|
ENST00000645205.1:c.1567C>T
|
ENSP00000495823.1:p.Leu523=
|
|
|
ENST00000645351.1:c.1567C>T
|
ENSP00000494319.1:p.Leu523=
|
|
|
ENST00000645551.1:c.*1284C>T
(TBCE)
|
ENSP00000495928.1:n.*1284C>T
|
|
|
ENST00000645578.1:c.*1341C>T
|
ENSP00000496495.1:n.*1341C>T
|
|
|
ENST00000645582.1:c.*1397C>T
(TBCE)
|
ENSP00000494980.1:n.*1397C>T
|
|
|
ENST00000645655.1:c.1567C>T
|
ENSP00000495202.1:p.Leu523=
|
|
|
ENST00000645836.1:c.*1341C>T
|
ENSP00000493915.1:n.*1341C>T
|
|
|
ENST00000645964.1:c.*1433C>T
(TBCE)
|
ENSP00000494208.1:n.*1433C>T
|
|
|
ENST00000646104.1:c.*2035C>T
(TBCE)
|
ENSP00000495475.1:n.*2035C>T
|
|
|
ENST00000646186.1:c.*1239C>T
(TBCE)
|
ENSP00000493806.1:n.*1239C>T
|
|
|
ENST00000646286.1:c.*1460C>T
(TBCE)
|
ENSP00000494291.1:n.*1460C>T
|
|
|
ENST00000646463.1:c.*1332C>T
(TBCE)
|
ENSP00000494541.1:n.*1332C>T
|
|
|
ENST00000646528.1:c.*2283C>T
|
ENSP00000496553.1:n.*2283C>T
|
|
|
ENST00000646536.1:c.*861C>T
(TBCE)
|
ENSP00000494801.1:n.*861C>T
|
|
|
ENST00000646624.1:c.1567C>T
|
ENSP00000494575.1:p.Leu523=
|
|
|
ENST00000646661.1:n.347C>T
(TBCE)
|
|
|
|
ENST00000646821.1:c.*857C>T
(TBCE)
|
ENSP00000495257.1:n.*857C>T
|
|
|
ENST00000646848.1:c.*782C>T
(TBCE)
|
ENSP00000495831.1:n.*782C>T
|
|
|
ENST00000647151.1:c.291C>T
(TBCE)
|
ENSP00000495125.1:n.291C>T
|
|
|
ENST00000647186.1:c.1567C>T
|
ENSP00000494775.1:p.Leu523=
|
|
|
ENST00000647233.1:n.2547C>T
(TBCE)
|
|
|
|
ENST00000647322.1:c.1158C>T
(TBCE)
|
|
|
|
ENST00000647418.1:c.*1341C>T
(TBCE)
|
ENSP00000493552.1:n.*1341C>T
|
|
|
ENST00000647428.1:c.1228C>T
|
ENSP00000495630.1:p.Leu410=
|
|
|
ENST00000651186.1:c.1228C>T
(TBCE)
|
ENSP00000498645.1:p.Leu410=
|
|
|
ENST00000675193.1:c.*1904G>A
(B3GALNT2)
|
ENSP00000502069.1:n.*1904G>A
|
|
|
ENST00000366601.7:c.1567C>T
|
ENSP00000355560.3:p.Leu523=
|
|
|
ENST00000406207.4:c.1567C>T
|
ENSP00000384571.1:p.Leu523=
|
|
|
ENST00000472011.5:n.1619C>T
|
|
|
|
ENST00000543662.3:c.1720C>T
|
ENSP00000439170.1:p.Leu574=
|
|
|
NM_001079515.2:c.1567C>T
(TBCE)
|
NP_001072983.1:p.Leu523=
|
|
|
NM_001287801.1:c.1720C>T
(TBCE)
|
NP_001274730.1:p.Leu574=
|
|
|
NM_001287802.1:c.1228C>T
(TBCE)
|
NP_001274731.1:p.Leu410=
|
|
|
NM_003193.4:c.1567C>T
(TBCE)
|
NP_003184.1:p.Leu523=
|
|
|
NM_152490.4:c.*1461G>A
(B3GALNT2)
|
NP_689703.1:n.*1461G>A
|
|
|
XM_006711749.2:c.1469+1495G>A
(B3GALNT2)
|
XP_006711812.1:n.1469+1495G>A
|
|
|
XM_006711749.3:c.1469+1495G>A
(B3GALNT2)
|
XP_006711812.1:n.1469+1495G>A
|
|
|
XM_017000394.1:c.*1461G>A
(B3GALNT2)
|
XP_016855883.1:n.*1461G>A
|
|
|
XM_017000395.1:c.*1640G>A
(B3GALNT2)
|
XP_016855884.1:n.*1640G>A
|
|
|
XR_001736987.1:n.3068G>A
(B3GALNT2)
|
|
|
|
XR_001736989.1:n.2989G>A
(B3GALNT2)
|
|
|
|
XR_001736990.1:n.2951G>A
(B3GALNT2)
|
|
|
|
NM_003193.5:c.1567C>T
(TBCE)
MANE Select
|
NP_003184.1:p.Leu523=
|
|
|
NM_152490.5:c.*1461G>A
(B3GALNT2)
MANE Select
|
NP_689703.1:n.*1461G>A
|
|
|
NM_001079515.3:c.1567C>T
(TBCE)
|
NP_001072983.1:p.Leu523=
|
|
|
NM_001287801.2:c.1720C>T
(TBCE)
|
NP_001274730.1:p.Leu574=
|
|
|
NM_001287802.2:c.1228C>T
(TBCE)
|
NP_001274731.1:p.Leu410=
|
|
