|
ENST00000369564.6:c.1165G>T
(AP4B1)
|
ENSP00000358577.2:p.Val389Leu
|
|
|
ENST00000369567.6:c.886G>T
(AP4B1)
|
ENSP00000358580.1:p.Val296Leu
|
|
|
ENST00000369571.3:c.1390G>T
(AP4B1)
|
ENSP00000358584.3:p.Val464Leu
|
|
|
ENST00000432415.6:c.886G>T
(AP4B1)
|
ENSP00000393622.2:p.Val296Leu
|
|
|
ENST00000460653.2:c.*460G>T
(AP4B1)
|
ENSP00000518881.1:n.*460G>T
|
|
|
ENST00000484201.6:c.*140G>T
(AP4B1)
|
ENSP00000518883.1:n.*140G>T
|
|
|
ENST00000489499.6:c.*732G>T
(AP4B1)
|
ENSP00000518882.1:n.*732G>T
|
|
|
ENST00000713588.1:c.*501G>T
(AP4B1)
|
ENSP00000518880.1:n.*501G>T
|
|
|
ENST00000713590.1:c.1390G>T
(AP4B1)
|
ENSP00000518886.1:p.Val464Leu
|
|
|
ENST00000369569.6:c.1390G>T
(AP4B1)
MANE Select
|
ENSP00000358582.1:p.Val464Leu
|
|
|
ENST00000256658.8:c.1390G>T
(AP4B1)
|
ENSP00000256658.4:p.Val464Leu
|
|
|
ENST00000369567.5:c.886G>T
(AP4B1)
|
ENSP00000358580.1:p.Val296Leu
|
|
|
ENST00000369569.5:c.1390G>T
(AP4B1)
|
ENSP00000358582.1:p.Val464Leu
|
|
|
ENST00000462591.1:n.1562G>T
(AP4B1)
|
|
|
|
ENST00000479285.5:n.618G>T
(AP4B1)
|
|
|
|
ENST00000479801.1:n.224G>T
(AP4B1)
|
|
|
|
ENST00000484201.5:n.952G>T
(AP4B1)
|
|
|
|
NM_001253852.1:c.1390G>T
(AP4B1)
|
NP_001240781.1:p.Val464Leu
|
|
|
NM_001253852.2:c.1390G>T
(AP4B1)
|
NP_001240781.1:p.Val464Leu
|
|
|
NM_001253853.1:c.1093G>T
(AP4B1)
|
NP_001240782.1:p.Val365Leu
|
|
|
NM_001253853.2:c.1093G>T
(AP4B1)
|
NP_001240782.1:p.Val365Leu
|
|
|
NM_001308312.1:c.886G>T
(AP4B1)
|
NP_001295241.1:p.Val296Leu
|
|
|
NM_006594.3:c.1390G>T
(AP4B1)
|
NP_006585.2:p.Val464Leu
|
|
|
NM_006594.4:c.1390G>T
(AP4B1)
|
NP_006585.2:p.Val464Leu
|
|
|
NR_037864.1:n.247-1490C>A
(AP4B1-AS1)
|
|
|
|
NR_125965.1:n.415-1490C>A
(AP4B1-AS1)
|
|
|
|
XM_005270381.2:c.1199-340G>T
(AP4B1)
|
XP_005270438.1:n.1199-340G>T
|
|
|
XM_011540523.1:c.1165G>T
(AP4B1)
|
XP_011538825.1:p.Val389Leu
|
|
|
XM_011540524.1:c.1165G>T
(AP4B1)
|
XP_011538826.1:p.Val389Leu
|
|
|
XM_011540525.1:c.1111G>T
(AP4B1)
|
XP_011538827.1:p.Val371Leu
|
|
|
XM_011540527.1:c.772G>T
(AP4B1)
|
XP_011538829.1:p.Val258Leu
|
|
|
XM_011540528.1:c.415G>T
(AP4B1)
|
XP_011538830.1:p.Val139Leu
|
|
|
XR_246227.1:n.1485-340G>T
(AP4B1)
|
|
|
|
XM_011540523.3:c.1165G>T
(AP4B1)
|
XP_011538825.1:p.Val389Leu
|
|
|
XM_011540525.3:c.1111G>T
(AP4B1)
|
XP_011538827.1:p.Val371Leu
|
|
|
XM_017000089.2:c.1199-340G>T
(AP4B1)
|
XP_016855578.1:n.1199-340G>T
|
|
|
XM_017000090.1:c.886G>T
(AP4B1)
|
XP_016855579.1:p.Val296Leu
|
|
|
XM_017000091.2:c.920-340G>T
(AP4B1)
|
XP_016855580.1:n.920-340G>T
|
|
|
XM_017000092.2:c.415G>T
(AP4B1)
|
XP_016855581.1:p.Val139Leu
|
|
|
XM_024452422.1:c.1111G>T
(AP4B1)
|
XP_024308190.1:p.Val371Leu
|
|
|
XM_024452423.1:c.1199-340G>T
(AP4B1)
|
XP_024308191.1:n.1199-340G>T
|
|
|
XM_024452435.1:c.974-340G>T
(AP4B1)
|
XP_024308203.1:n.974-340G>T
|
|
|
XM_024452441.1:c.695-340G>T
(AP4B1)
|
XP_024308209.1:n.695-340G>T
|
|
|
XR_001736928.2:n.1820G>T
(AP4B1)
|
|
|
|
XR_001736930.2:n.1964G>T
(AP4B1)
|
|
|
|
XR_002958805.1:n.1505-340G>T
(AP4B1)
|
|
|
|
XR_002958806.1:n.1861G>T
(AP4B1)
|
|
|
|
XR_002958807.1:n.1700G>T
(AP4B1)
|
|
|
|
NM_001253852.3:c.1390G>T
(AP4B1)
MANE Select
|
NP_001240781.1:p.Val464Leu
|
|
|
NM_001253853.3:c.1093G>T
(AP4B1)
|
NP_001240782.1:p.Val365Leu
|
|
|
NM_001308312.2:c.886G>T
(AP4B1)
|
NP_001295241.1:p.Val296Leu
|
|
|
NM_006594.5:c.1390G>T
(AP4B1)
|
NP_006585.2:p.Val464Leu
|
|
