|
ENST00000369564.6:c.1108G>T
(AP4B1)
|
ENSP00000358577.2:p.Val370Phe
|
|
|
ENST00000369567.6:c.829G>T
(AP4B1)
|
ENSP00000358580.1:p.Val277Phe
|
|
|
ENST00000369571.3:c.1333G>T
(AP4B1)
|
ENSP00000358584.3:p.Val445Phe
|
|
|
ENST00000432415.6:c.829G>T
(AP4B1)
|
ENSP00000393622.2:p.Val277Phe
|
|
|
ENST00000460653.2:c.*403G>T
(AP4B1)
|
ENSP00000518881.1:n.*403G>T
|
|
|
ENST00000484201.6:c.*83G>T
(AP4B1)
|
ENSP00000518883.1:n.*83G>T
|
|
|
ENST00000489499.6:c.*675G>T
(AP4B1)
|
ENSP00000518882.1:n.*675G>T
|
|
|
ENST00000713588.1:c.*444G>T
(AP4B1)
|
ENSP00000518880.1:n.*444G>T
|
|
|
ENST00000713590.1:c.1333G>T
(AP4B1)
|
ENSP00000518886.1:p.Val445Phe
|
|
|
ENST00000369569.6:c.1333G>T
(AP4B1)
MANE Select
|
ENSP00000358582.1:p.Val445Phe
|
|
|
ENST00000256658.8:c.1333G>T
(AP4B1)
|
ENSP00000256658.4:p.Val445Phe
|
|
|
ENST00000369567.5:c.829G>T
(AP4B1)
|
ENSP00000358580.1:p.Val277Phe
|
|
|
ENST00000369569.5:c.1333G>T
(AP4B1)
|
ENSP00000358582.1:p.Val445Phe
|
|
|
ENST00000462591.1:n.1505G>T
(AP4B1)
|
|
|
|
ENST00000479285.5:n.561G>T
(AP4B1)
|
|
|
|
ENST00000479801.1:n.167G>T
(AP4B1)
|
|
|
|
ENST00000484201.5:n.895G>T
(AP4B1)
|
|
|
|
NM_001253852.1:c.1333G>T
(AP4B1)
|
NP_001240781.1:p.Val445Phe
|
|
|
NM_001253852.2:c.1333G>T
(AP4B1)
|
NP_001240781.1:p.Val445Phe
|
|
|
NM_001253853.1:c.1036G>T
(AP4B1)
|
NP_001240782.1:p.Val346Phe
|
|
|
NM_001253853.2:c.1036G>T
(AP4B1)
|
NP_001240782.1:p.Val346Phe
|
|
|
NM_001308312.1:c.829G>T
(AP4B1)
|
NP_001295241.1:p.Val277Phe
|
|
|
NM_006594.3:c.1333G>T
(AP4B1)
|
NP_006585.2:p.Val445Phe
|
|
|
NM_006594.4:c.1333G>T
(AP4B1)
|
NP_006585.2:p.Val445Phe
|
|
|
NR_037864.1:n.247-1433C>A
(AP4B1-AS1)
|
|
|
|
NR_125965.1:n.415-1433C>A
(AP4B1-AS1)
|
|
|
|
XM_005270381.2:c.1199-397G>T
(AP4B1)
|
XP_005270438.1:n.1199-397G>T
|
|
|
XM_011540523.1:c.1108G>T
(AP4B1)
|
XP_011538825.1:p.Val370Phe
|
|
|
XM_011540524.1:c.1108G>T
(AP4B1)
|
XP_011538826.1:p.Val370Phe
|
|
|
XM_011540525.1:c.1054G>T
(AP4B1)
|
XP_011538827.1:p.Val352Phe
|
|
|
XM_011540527.1:c.715G>T
(AP4B1)
|
XP_011538829.1:p.Val239Phe
|
|
|
XM_011540528.1:c.358G>T
(AP4B1)
|
XP_011538830.1:p.Val120Phe
|
|
|
XR_246227.1:n.1485-397G>T
(AP4B1)
|
|
|
|
XM_011540523.3:c.1108G>T
(AP4B1)
|
XP_011538825.1:p.Val370Phe
|
|
|
XM_011540525.3:c.1054G>T
(AP4B1)
|
XP_011538827.1:p.Val352Phe
|
|
|
XM_017000089.2:c.1199-397G>T
(AP4B1)
|
XP_016855578.1:n.1199-397G>T
|
|
|
XM_017000090.1:c.829G>T
(AP4B1)
|
XP_016855579.1:p.Val277Phe
|
|
|
XM_017000091.2:c.920-397G>T
(AP4B1)
|
XP_016855580.1:n.920-397G>T
|
|
|
XM_017000092.2:c.358G>T
(AP4B1)
|
XP_016855581.1:p.Val120Phe
|
|
|
XM_024452422.1:c.1054G>T
(AP4B1)
|
XP_024308190.1:p.Val352Phe
|
|
|
XM_024452423.1:c.1199-397G>T
(AP4B1)
|
XP_024308191.1:n.1199-397G>T
|
|
|
XM_024452435.1:c.974-397G>T
(AP4B1)
|
XP_024308203.1:n.974-397G>T
|
|
|
XM_024452441.1:c.695-397G>T
(AP4B1)
|
XP_024308209.1:n.695-397G>T
|
|
|
XR_001736928.2:n.1763G>T
(AP4B1)
|
|
|
|
XR_001736930.2:n.1907G>T
(AP4B1)
|
|
|
|
XR_002958805.1:n.1505-397G>T
(AP4B1)
|
|
|
|
XR_002958806.1:n.1804G>T
(AP4B1)
|
|
|
|
XR_002958807.1:n.1643G>T
(AP4B1)
|
|
|
|
NM_001253852.3:c.1333G>T
(AP4B1)
MANE Select
|
NP_001240781.1:p.Val445Phe
|
|
|
NM_001253853.3:c.1036G>T
(AP4B1)
|
NP_001240782.1:p.Val346Phe
|
|
|
NM_001308312.2:c.829G>T
(AP4B1)
|
NP_001295241.1:p.Val277Phe
|
|
|
NM_006594.5:c.1333G>T
(AP4B1)
|
NP_006585.2:p.Val445Phe
|
|
