|
NM_001370595.2:c.502A>G
(COA8)
MANE Select
|
NP_001357524.1:p.Ile168Val
|
|
ENST00000409074.8:c.502A>G
(COA8)
MANE Select
|
ENSP00000386485.3:p.Ile168Val
|
|
NM_001302652.1:c.539A>G
(COA8)
|
NP_001289581.1:p.His180Arg
|
|
NM_001302652.2:c.500A>G
(COA8)
|
NP_001289581.2:p.His167Arg
|
|
NM_001302653.1:c.*56A>G
(COA8)
|
NP_001289582.1:n.*56A>G
|
|
NM_001302653.2:c.*56A>G
(COA8)
|
NP_001289582.2:n.*56A>G
|
|
NM_032374.4:c.541A>G
(COA8)
|
NP_115750.2:p.Ile181Val
|
|
NR_126431.1:n.712A>G
(COA8)
|
|
|
NR_126431.2:n.709A>G
(COA8)
|
|
|
NR_126432.1:n.483A>G
(COA8)
|
|
|
NR_126432.2:n.480A>G
(COA8)
|
|
|
ENST00000409074.6:c.541A>G
(COA8)
|
ENSP00000386485.2:p.Ile181Val
|
|
ENST00000440963.1:c.277A>G
(COA8)
|
ENSP00000388067.1:p.Ile93Val
|
|
ENST00000440963.2:c.*99A>G
(COA8)
|
ENSP00000388067.2:n.*99A>G
|
|
ENST00000458117.5:c.461A>G
(COA8)
|
|
|
ENST00000458117.6:c.*99A>G
(COA8)
|
ENSP00000408525.2:n.*99A>G
|
|
ENST00000472726.2:c.515+2842A>G
|
ENSP00000439065.1:n.515+2842A>G
|
|
ENST00000472726.3:c.476+2842A>G
|
ENSP00000439065.2:n.476+2842A>G
|
|
ENST00000473127.5:c.88A>G
(COA8)
|
ENSP00000489380.1:p.Ile30Val
|
|
ENST00000474271.1:n.220+2842A>G
(COA8)
|
|
|
ENST00000476323.5:c.138A>G
(COA8)
|
ENSP00000489047.1:p.Pro46=
|
|
ENST00000477116.5:c.88A>G
(COA8)
|
ENSP00000489152.1:p.Ile30Val
|
|
ENST00000489117.5:c.616A>G
(COA8)
|
ENSP00000451788.1:n.616A>G
|
|
ENST00000492189.5:c.88A>G
(COA8)
|
ENSP00000489557.1:p.Ile30Val
|
|
ENST00000555660.5:c.305A>G
(COA8)
|
|
|
ENST00000556253.6:c.*56A>G
(COA8)
|
ENSP00000451874.2:n.*56A>G
|
|
ENST00000557079.1:n.308A>G
(COA8)
|
|
|
ENST00000557172.5:c.-2+28222A>G
(KLC1)
|
ENSP00000450786.1:n.-2+28222A>G
|
|
ENST00000674165.1:c.541A>G
(COA8)
|
ENSP00000501341.1:p.Ile181Val
|
