|
ENST00000309041.12:c.7420G>A
(CEP290)
|
ENSP00000308021.8:p.Glu2474Lys
|
|
|
ENST00000356891.4:c.*791C>T
(RLIG1)
MANE Select
|
ENSP00000349358.3:n.*791C>T
|
|
|
ENST00000547691.8:c.4380G>A
(CEP290)
|
|
|
|
ENST00000552810.6:c.7411G>A
(CEP290)
MANE Select
|
ENSP00000448012.1:p.Glu2471Lys
|
|
|
ENST00000671777.2:n.1190G>A
(CEP290)
|
|
|
|
ENST00000672414.2:c.*5417G>A
(CEP290)
|
ENSP00000500729.1:n.*5417G>A
|
|
|
ENST00000672647.1:n.5771G>A
(CEP290)
|
|
|
|
ENST00000673058.2:c.7288G>A
(CEP290)
|
ENSP00000500665.2:p.Glu2430Lys
|
|
|
ENST00000674712.1:n.938G>A
(CEP290)
|
|
|
|
ENST00000674889.1:n.4364G>A
(CEP290)
|
|
|
|
ENST00000674971.1:c.*368G>A
(CEP290)
|
ENSP00000502194.1:n.*368G>A
|
|
|
ENST00000675230.1:c.7390G>A
(CEP290)
|
ENSP00000502503.1:p.Glu2464Lys
|
|
|
ENST00000675408.1:c.7246G>A
(CEP290)
|
ENSP00000502298.1:p.Glu2416Lys
|
|
|
ENST00000675476.1:c.8272G>A
(CEP290)
|
ENSP00000502161.1:p.Glu2758Lys
|
|
|
ENST00000675628.1:n.9393G>A
(CEP290)
|
|
|
|
ENST00000675794.1:c.*5582G>A
(CEP290)
|
ENSP00000502841.1:n.*5582G>A
|
|
|
ENST00000675833.1:c.8179G>A
(CEP290)
|
ENSP00000502559.1:p.Glu2727Lys
|
|
|
ENST00000675894.1:n.3716G>A
(CEP290)
|
|
|
|
ENST00000676074.1:c.*368G>A
(CEP290)
|
ENSP00000502079.1:n.*368G>A
|
|
|
ENST00000676181.1:n.8094G>A
(CEP290)
|
|
|
|
ENST00000676190.1:n.3605G>A
(CEP290)
|
|
|
|
ENST00000676363.1:n.13137G>A
(CEP290)
|
|
|
|
ENST00000309041.11:c.7417G>A
(CEP290)
|
ENSP00000308021.7:p.Glu2473Lys
|
|
|
ENST00000356891.3:c.*791C>T
(RLIG1)
|
ENSP00000349358.3:n.*791C>T
|
|
|
ENST00000547691.6:c.4591G>A
(CEP290)
|
ENSP00000446905.1:p.Glu1531Lys
|
|
|
ENST00000550333.5:c.*1534C>T
(RLIG1)
|
ENSP00000448194.1:n.*1534C>T
|
|
|
ENST00000552121.5:c.*1336C>T
(RLIG1)
|
ENSP00000447327.1:n.*1336C>T
|
|
|
ENST00000552810.5:c.7411G>A
(CEP290)
|
ENSP00000448012.1:p.Glu2471Lys
|
|
|
NM_001009894.2:c.*791C>T
(RLIG1)
|
NP_001009894.2:n.*791C>T
|
|
|
NM_025114.3:c.7411G>A
(CEP290)
|
NP_079390.3:p.Glu2471Lys
|
|
|
XM_011538756.1:c.8281G>A
(CEP290)
|
XP_011537058.1:p.Glu2761Lys
|
|
|
XM_011538757.1:c.8281G>A
(CEP290)
|
XP_011537059.1:p.Glu2761Lys
|
|
|
XM_011538758.1:c.8278G>A
(CEP290)
|
XP_011537060.1:p.Glu2760Lys
|
|
|
XM_011538759.1:c.8272G>A
(CEP290)
|
XP_011537061.1:p.Glu2758Lys
|
|
|
XM_011538760.1:c.8158G>A
(CEP290)
|
XP_011537062.1:p.Glu2720Lys
|
|
|
XM_011538761.1:c.8116G>A
(CEP290)
|
XP_011537063.1:p.Glu2706Lys
|
|
|
XM_011538762.1:c.7513G>A
(CEP290)
|
XP_011537064.1:p.Glu2505Lys
|
|
|
XM_011538763.1:c.7420G>A
(CEP290)
|
XP_011537065.1:p.Glu2474Lys
|
|
|
XM_011538766.1:c.6742G>A
(CEP290)
|
XP_011537068.1:p.Glu2248Lys
|
|
|
XM_011538756.3:c.8281G>A
(CEP290)
|
XP_011537058.1:p.Glu2761Lys
|
|
|
XM_011538757.3:c.8281G>A
(CEP290)
|
XP_011537059.1:p.Glu2761Lys
|
|
|
XM_011538758.3:c.8278G>A
(CEP290)
|
XP_011537060.1:p.Glu2760Lys
|
|
|
XM_011538759.2:c.8272G>A
(CEP290)
|
XP_011537061.1:p.Glu2758Lys
|
|
|
XM_011538760.2:c.8158G>A
(CEP290)
|
XP_011537062.1:p.Glu2720Lys
|
|
|
XM_011538761.2:c.8116G>A
(CEP290)
|
XP_011537063.1:p.Glu2706Lys
|
|
|
XM_011538762.3:c.7513G>A
(CEP290)
|
XP_011537064.1:p.Glu2505Lys
|
|
|
XM_011538763.3:c.7420G>A
(CEP290)
|
XP_011537065.1:p.Glu2474Lys
|
|
|
XM_011538766.3:c.6742G>A
(CEP290)
|
XP_011537068.1:p.Glu2248Lys
|
|
|
XM_017019980.2:c.8149G>A
(CEP290)
|
XP_016875469.1:p.Glu2717Lys
|
|
|
XM_017019981.2:c.8107G>A
(CEP290)
|
XP_016875470.1:p.Glu2703Lys
|
|
|
XM_017019983.2:c.7399G>A
(CEP290)
|
XP_016875472.1:p.Glu2467Lys
|
|
|
NM_001009894.3:c.*791C>T
(RLIG1)
MANE Select
|
NP_001009894.2:n.*791C>T
|
|
|
NM_025114.4:c.7411G>A
(CEP290)
MANE Select
|
NP_079390.3:p.Glu2471Lys
|
|
