|
ENST00000369564.6:c.658G>C
(AP4B1)
|
ENSP00000358577.2:p.Val220Leu
|
|
|
ENST00000369567.6:c.379G>C
(AP4B1)
|
ENSP00000358580.1:p.Val127Leu
|
|
|
ENST00000369571.3:c.883G>C
(AP4B1)
|
ENSP00000358584.3:p.Val295Leu
|
|
|
ENST00000432415.6:c.379G>C
(AP4B1)
|
ENSP00000393622.2:p.Val127Leu
|
|
|
ENST00000460653.2:c.883G>C
(AP4B1)
|
ENSP00000518881.1:p.Val295Leu
|
|
|
ENST00000484201.6:c.523+135G>C
(AP4B1)
|
ENSP00000518883.1:n.523+135G>C
|
|
|
ENST00000489092.6:c.*551G>C
(AP4B1)
|
ENSP00000518884.1:n.*551G>C
|
|
|
ENST00000489499.6:c.*225G>C
(AP4B1)
|
ENSP00000518882.1:n.*225G>C
|
|
|
ENST00000713588.1:c.883G>C
(AP4B1)
|
ENSP00000518880.1:p.Val295Leu
|
|
|
ENST00000713590.1:c.883G>C
(AP4B1)
|
ENSP00000518886.1:p.Val295Leu
|
|
|
ENST00000369569.6:c.883G>C
(AP4B1)
MANE Select
|
ENSP00000358582.1:p.Val295Leu
|
|
|
ENST00000256658.8:c.883G>C
(AP4B1)
|
ENSP00000256658.4:p.Val295Leu
|
|
|
ENST00000369564.5:c.658G>C
(AP4B1)
|
ENSP00000358577.1:p.Val220Leu
|
|
|
ENST00000369567.5:c.379G>C
(AP4B1)
|
ENSP00000358580.1:p.Val127Leu
|
|
|
ENST00000369569.5:c.883G>C
(AP4B1)
|
ENSP00000358582.1:p.Val295Leu
|
|
|
ENST00000432415.5:c.379G>C
(AP4B1)
|
ENSP00000393622.1:p.Val127Leu
|
|
|
ENST00000479285.5:n.111G>C
(AP4B1)
|
|
|
|
ENST00000484201.5:n.714+135G>C
(AP4B1)
|
|
|
|
ENST00000489092.5:n.882G>C
(AP4B1)
|
|
|
|
ENST00000489499.5:n.851G>C
(AP4B1)
|
|
|
|
NM_001253852.1:c.883G>C
(AP4B1)
|
NP_001240781.1:p.Val295Leu
|
|
|
NM_001253852.2:c.883G>C
(AP4B1)
|
NP_001240781.1:p.Val295Leu
|
|
|
NM_001253853.1:c.586G>C
(AP4B1)
|
NP_001240782.1:p.Val196Leu
|
|
|
NM_001253853.2:c.586G>C
(AP4B1)
|
NP_001240782.1:p.Val196Leu
|
|
|
NM_001308312.1:c.379G>C
(AP4B1)
|
NP_001295241.1:p.Val127Leu
|
|
|
NM_006594.3:c.883G>C
(AP4B1)
|
NP_006585.2:p.Val295Leu
|
|
|
NM_006594.4:c.883G>C
(AP4B1)
|
NP_006585.2:p.Val295Leu
|
|
|
NR_037864.1:n.632C>G
(AP4B1-AS1)
|
|
|
|
NR_125965.1:n.800C>G
(AP4B1-AS1)
|
|
|
|
XM_005270381.2:c.883G>C
(AP4B1)
|
XP_005270438.1:p.Val295Leu
|
|
|
XM_005270382.3:c.883G>C
(AP4B1)
|
XP_005270439.1:p.Val295Leu
|
|
|
XM_011540523.1:c.658G>C
(AP4B1)
|
XP_011538825.1:p.Val220Leu
|
|
|
XM_011540524.1:c.658G>C
(AP4B1)
|
XP_011538826.1:p.Val220Leu
|
|
|
XM_011540525.1:c.604G>C
(AP4B1)
|
XP_011538827.1:p.Val202Leu
|
|
|
XM_011540527.1:c.265G>C
(AP4B1)
|
XP_011538829.1:p.Val89Leu
|
|
|
XR_246227.1:n.1065G>C
(AP4B1)
|
|
|
|
XR_246228.2:n.1065G>C
(AP4B1)
|
|
|
|
XM_011540523.3:c.658G>C
(AP4B1)
|
XP_011538825.1:p.Val220Leu
|
|
|
XM_011540525.3:c.604G>C
(AP4B1)
|
XP_011538827.1:p.Val202Leu
|
|
|
XM_017000089.2:c.883G>C
(AP4B1)
|
XP_016855578.1:p.Val295Leu
|
|
|
XM_017000090.1:c.379G>C
(AP4B1)
|
XP_016855579.1:p.Val127Leu
|
|
|
XM_017000091.2:c.604G>C
(AP4B1)
|
XP_016855580.1:p.Val202Leu
|
|
|
XM_017000092.2:c.-362G>C
(AP4B1)
|
XP_016855581.1:n.-362G>C
|
|
|
XM_017000093.2:c.883G>C
(AP4B1)
|
XP_016855582.1:p.Val295Leu
|
|
|
XM_024452422.1:c.604G>C
(AP4B1)
|
XP_024308190.1:p.Val202Leu
|
|
|
XM_024452423.1:c.883G>C
(AP4B1)
|
XP_024308191.1:p.Val295Leu
|
|
|
XM_024452435.1:c.658G>C
(AP4B1)
|
XP_024308203.1:p.Val220Leu
|
|
|
XM_024452441.1:c.379G>C
(AP4B1)
|
XP_024308209.1:p.Val127Leu
|
|
|
XR_001736928.2:n.1085G>C
(AP4B1)
|
|
|
|
XR_001736930.2:n.1085G>C
(AP4B1)
|
|
|
|
XR_002958805.1:n.1085G>C
(AP4B1)
|
|
|
|
XR_002958806.1:n.1085G>C
(AP4B1)
|
|
|
|
XR_002958807.1:n.965G>C
(AP4B1)
|
|
|
|
NM_001253852.3:c.883G>C
(AP4B1)
MANE Select
|
NP_001240781.1:p.Val295Leu
|
|
|
NM_001253853.3:c.586G>C
(AP4B1)
|
NP_001240782.1:p.Val196Leu
|
|
|
NM_001308312.2:c.379G>C
(AP4B1)
|
NP_001295241.1:p.Val127Leu
|
|
|
NM_006594.5:c.883G>C
(AP4B1)
|
NP_006585.2:p.Val295Leu
|
|
