|
ENST00000490278.2:n.2174G>C
(CD46)
|
|
|
|
ENST00000496723.2:n.1751G>C
(CD46)
|
|
|
|
ENST00000636114.2:n.2693G>C
(CD46)
|
|
|
|
ENST00000695777.1:c.1000G>C
(CD46)
|
ENSP00000512167.1:p.Val334Leu
|
|
|
ENST00000695778.1:c.955G>C
(CD46)
|
ENSP00000512168.1:p.Val319Leu
|
|
|
ENST00000695779.1:n.1717G>C
(CD46)
|
|
|
|
ENST00000695780.1:c.938-568G>C
(CD46)
|
ENSP00000512169.1:n.938-568G>C
|
|
|
ENST00000695781.1:c.*83G>C
(CD46)
|
ENSP00000512170.1:n.*83G>C
|
|
|
ENST00000695782.1:c.955G>C
(CD46)
|
ENSP00000512171.1:p.Val319Leu
|
|
|
ENST00000695783.1:n.4368G>C
(CD46)
|
|
|
|
ENST00000695784.1:c.*126G>C
(CD46)
|
ENSP00000512172.1:n.*126G>C
|
|
|
ENST00000695786.1:n.922G>C
(CD46)
|
|
|
|
ENST00000695787.1:n.2358G>C
(CD46)
|
|
|
|
ENST00000695788.1:n.579G>C
(CD46)
|
|
|
|
ENST00000695789.1:n.2251G>C
(CD46)
|
|
|
|
ENST00000695790.1:n.2240G>C
(CD46)
|
|
|
|
ENST00000367042.6:c.1000G>C
(CD46)
MANE Select
|
ENSP00000356009.1:p.Val334Leu
|
|
|
ENST00000636114.1:n.754G>C
(CD46)
|
|
|
|
ENST00000322875.8:c.1045G>C
(CD46)
|
ENSP00000313875.4:p.Val349Leu
|
|
|
ENST00000322918.9:c.955G>C
(CD46)
|
ENSP00000314664.5:p.Val319Leu
|
|
|
ENST00000354848.5:c.1000G>C
(CD46)
|
ENSP00000346912.1:p.Val334Leu
|
|
|
ENST00000357714.5:c.955G>C
(CD46)
|
ENSP00000350346.1:p.Val319Leu
|
|
|
ENST00000358170.6:c.1045G>C
(CD46)
|
ENSP00000350893.2:p.Val349Leu
|
|
|
ENST00000360212.6:c.913G>C
(CD46)
|
ENSP00000353342.2:p.Val305Leu
|
|
|
ENST00000367041.5:c.955G>C
(CD46)
|
ENSP00000356008.1:p.Val319Leu
|
|
|
ENST00000367042.5:c.1000G>C
(CD46)
|
ENSP00000356009.1:p.Val334Leu
|
|
|
ENST00000367047.5:c.856G>C
(CD46)
|
ENSP00000356014.1:p.Val286Leu
|
|
|
ENST00000462968.2:c.81G>C
(CD46)
|
|
|
|
ENST00000469535.5:n.5749G>C
(CD46)
|
|
|
|
ENST00000471987.1:n.110G>C
(CD46)
|
|
|
|
ENST00000480003.5:c.958G>C
(CD46)
|
ENSP00000418471.1:p.Val320Leu
|
|
|
ENST00000488596.5:n.379G>C
(CD46)
|
|
|
|
NM_002389.4:c.1045G>C , LRG_155t1:c.1045G>C
(CD46)
|
NP_002380.3:p.Val349Leu
|
|
|
NM_153826.3:c.1000G>C
(CD46)
|
NP_722548.1:p.Val334Leu
|
|
|
NM_172350.2:c.955G>C
(CD46)
|
NP_758860.1:p.Val319Leu
|
|
|
NM_172351.2:c.1000G>C
(CD46)
|
NP_758861.1:p.Val334Leu
|
|
|
NM_172352.2:c.955G>C
(CD46)
|
NP_758862.1:p.Val319Leu
|
|
|
NM_172353.2:c.955G>C
(CD46)
|
NP_758863.1:p.Val319Leu
|
|
|
NM_172359.2:c.1045G>C
(CD46)
|
NP_758869.1:p.Val349Leu
|
|
|
NM_172361.2:c.913G>C
(CD46)
|
NP_758871.1:p.Val305Leu
|
|
|
XM_011509563.1:c.1003G>C
(CD46)
|
XP_011507865.1:p.Val335Leu
|
|
|
XM_011509564.1:c.958G>C
(CD46)
|
XP_011507866.1:p.Val320Leu
|
|
|
XR_922496.1:n.7666+20917C>G
(MIR29B2CHG)
|
|
|
|
XR_922497.1:n.6306-22100C>G
(MIR29B2CHG)
|
|
|
|
NM_172355.2:c.958G>C
(CD46)
|
NP_758865.1:p.Val320Leu
|
|
|
NM_172356.2:c.958G>C
(CD46)
|
NP_758866.1:p.Val320Leu
|
|
|
NM_172357.2:c.913G>C
(CD46)
|
NP_758867.1:p.Val305Leu
|
|
|
NM_172358.2:c.1000G>C
(CD46)
|
NP_758868.1:p.Val334Leu
|
|
|
XM_011509563.2:c.1003G>C
(CD46)
|
XP_011507865.1:p.Val335Leu
|
|
|
XM_017001308.2:c.1003G>C
(CD46)
|
XP_016856797.1:p.Val335Leu
|
|
|
XR_001737177.2:n.2151G>C
(CD46)
|
|
|
|
XR_002956621.1:n.2689G>C
(CD46)
|
|
|
|
XR_002956622.1:n.2689G>C
(CD46)
|
|
|
|
NM_153826.4:c.1000G>C
(CD46)
|
NP_722548.1:p.Val334Leu
|
|
|
NM_172350.3:c.955G>C
(CD46)
|
NP_758860.1:p.Val319Leu
|
|
|
NM_172351.3:c.1000G>C
(CD46)
MANE Select
|
NP_758861.1:p.Val334Leu
|
|
|
NM_172352.3:c.955G>C
(CD46)
|
NP_758862.1:p.Val319Leu
|
|
|
NM_172353.3:c.955G>C
(CD46)
|
NP_758863.1:p.Val319Leu
|
|
|
NM_172355.3:c.958G>C
(CD46)
|
NP_758865.1:p.Val320Leu
|
|
|
NM_172356.3:c.958G>C
(CD46)
|
NP_758866.1:p.Val320Leu
|
|
|
NM_172357.3:c.913G>C
(CD46)
|
NP_758867.1:p.Val305Leu
|
|
|
NM_172358.3:c.1000G>C
(CD46)
|
NP_758868.1:p.Val334Leu
|
|
|
NM_172359.3:c.1045G>C
(CD46)
|
NP_758869.1:p.Val349Leu
|
|
|
NM_172361.3:c.913G>C
(CD46)
|
NP_758871.1:p.Val305Leu
|
|
