|
ENST00000369564.6:c.973G>T
(AP4B1)
|
ENSP00000358577.2:p.Val325Leu
|
|
|
ENST00000369567.6:c.694G>T
(AP4B1)
|
ENSP00000358580.1:p.Val232Leu
|
|
|
ENST00000369571.3:c.1198G>T
(AP4B1)
|
ENSP00000358584.3:p.Val400Leu
|
|
|
ENST00000432415.6:c.694G>T
(AP4B1)
|
ENSP00000393622.2:p.Val232Leu
|
|
|
ENST00000460653.2:c.*268G>T
(AP4B1)
|
ENSP00000518881.1:n.*268G>T
|
|
|
ENST00000484201.6:c.569G>T
(AP4B1)
|
ENSP00000518883.1:p.Ser190Ile
|
|
|
ENST00000489499.6:c.*540G>T
(AP4B1)
|
ENSP00000518882.1:n.*540G>T
|
|
|
ENST00000713588.1:c.*309G>T
(AP4B1)
|
ENSP00000518880.1:n.*309G>T
|
|
|
ENST00000713590.1:c.1198G>T
(AP4B1)
|
ENSP00000518886.1:p.Val400Leu
|
|
|
ENST00000369569.6:c.1198G>T
(AP4B1)
MANE Select
|
ENSP00000358582.1:p.Val400Leu
|
|
|
ENST00000256658.8:c.1198G>T
(AP4B1)
|
ENSP00000256658.4:p.Val400Leu
|
|
|
ENST00000369567.5:c.694G>T
(AP4B1)
|
ENSP00000358580.1:p.Val232Leu
|
|
|
ENST00000369569.5:c.1198G>T
(AP4B1)
|
ENSP00000358582.1:p.Val400Leu
|
|
|
ENST00000479285.5:n.426G>T
(AP4B1)
|
|
|
|
ENST00000484201.5:n.760G>T
(AP4B1)
|
|
|
|
NM_001253852.1:c.1198G>T
(AP4B1)
|
NP_001240781.1:p.Val400Leu
|
|
|
NM_001253852.2:c.1198G>T
(AP4B1)
|
NP_001240781.1:p.Val400Leu
|
|
|
NM_001253853.1:c.901G>T
(AP4B1)
|
NP_001240782.1:p.Val301Leu
|
|
|
NM_001253853.2:c.901G>T
(AP4B1)
|
NP_001240782.1:p.Val301Leu
|
|
|
NM_001308312.1:c.694G>T
(AP4B1)
|
NP_001295241.1:p.Val232Leu
|
|
|
NM_006594.3:c.1198G>T
(AP4B1)
|
NP_006585.2:p.Val400Leu
|
|
|
NM_006594.4:c.1198G>T
(AP4B1)
|
NP_006585.2:p.Val400Leu
|
|
|
NR_037864.1:n.368+729C>A
(AP4B1-AS1)
|
|
|
|
NR_125965.1:n.536+729C>A
(AP4B1-AS1)
|
|
|
|
XM_005270381.2:c.1198G>T
(AP4B1)
|
XP_005270438.1:p.Glu400Ter
|
|
|
XM_005270382.3:c.1198G>T
(AP4B1)
|
XP_005270439.1:p.Glu400Ter
|
|
|
XM_011540523.1:c.973G>T
(AP4B1)
|
XP_011538825.1:p.Val325Leu
|
|
|
XM_011540524.1:c.973G>T
(AP4B1)
|
XP_011538826.1:p.Val325Leu
|
|
|
XM_011540525.1:c.919G>T
(AP4B1)
|
XP_011538827.1:p.Val307Leu
|
|
|
XM_011540527.1:c.580G>T
(AP4B1)
|
XP_011538829.1:p.Val194Leu
|
|
|
XM_011540528.1:c.223G>T
(AP4B1)
|
XP_011538830.1:p.Val75Leu
|
|
|
XR_246227.1:n.1380G>T
(AP4B1)
|
|
|
|
XR_246228.2:n.1608G>T
(AP4B1)
|
|
|
|
XM_011540523.3:c.973G>T
(AP4B1)
|
XP_011538825.1:p.Val325Leu
|
|
|
XM_011540525.3:c.919G>T
(AP4B1)
|
XP_011538827.1:p.Val307Leu
|
|
|
XM_017000089.2:c.1198G>T
(AP4B1)
|
XP_016855578.1:p.Glu400Ter
|
|
|
XM_017000090.1:c.694G>T
(AP4B1)
|
XP_016855579.1:p.Val232Leu
|
|
|
XM_017000091.2:c.919G>T
(AP4B1)
|
XP_016855580.1:p.Glu307Ter
|
|
|
XM_017000092.2:c.223G>T
(AP4B1)
|
XP_016855581.1:p.Val75Leu
|
|
|
XM_017000093.2:c.1198G>T
(AP4B1)
|
XP_016855582.1:p.Glu400Ter
|
|
|
XM_024452422.1:c.919G>T
(AP4B1)
|
XP_024308190.1:p.Val307Leu
|
|
|
XM_024452423.1:c.1198G>T
(AP4B1)
|
XP_024308191.1:p.Glu400Ter
|
|
|
XM_024452435.1:c.973G>T
(AP4B1)
|
XP_024308203.1:p.Glu325Ter
|
|
|
XM_024452441.1:c.694G>T
(AP4B1)
|
XP_024308209.1:p.Glu232Ter
|
|
|
XR_001736928.2:n.1628G>T
(AP4B1)
|
|
|
|
XR_001736930.2:n.1669G>T
(AP4B1)
|
|
|
|
XR_002958805.1:n.1400G>T
(AP4B1)
|
|
|
|
XR_002958806.1:n.1669G>T
(AP4B1)
|
|
|
|
XR_002958807.1:n.1508G>T
(AP4B1)
|
|
|
|
NM_001253852.3:c.1198G>T
(AP4B1)
MANE Select
|
NP_001240781.1:p.Val400Leu
|
|
|
NM_001253853.3:c.901G>T
(AP4B1)
|
NP_001240782.1:p.Val301Leu
|
|
|
NM_001308312.2:c.694G>T
(AP4B1)
|
NP_001295241.1:p.Val232Leu
|
|
|
NM_006594.5:c.1198G>T
(AP4B1)
|
NP_006585.2:p.Val400Leu
|
|
