|
NM_001009894.3:c.*854C>G
(RLIG1)
MANE Select
|
NP_001009894.2:n.*854C>G
|
|
NM_025114.4:c.7348G>C
(CEP290)
MANE Select
|
NP_079390.3:p.Glu2450Gln
|
|
ENST00000356891.4:c.*854C>G
(RLIG1)
MANE Select
|
ENSP00000349358.3:n.*854C>G
|
|
ENST00000552810.6:c.7348G>C
(CEP290)
MANE Select
|
ENSP00000448012.1:p.Glu2450Gln
|
|
NM_001009894.2:c.*854C>G
(RLIG1)
|
NP_001009894.2:n.*854C>G
|
|
NM_025114.3:c.7348G>C
(CEP290)
|
NP_079390.3:p.Glu2450Gln
|
|
ENST00000309041.11:c.7354G>C
(CEP290)
|
ENSP00000308021.7:p.Glu2452Gln
|
|
ENST00000309041.12:c.7357G>C
(CEP290)
|
ENSP00000308021.8:p.Glu2453Gln
|
|
ENST00000356891.3:c.*854C>G
(RLIG1)
|
ENSP00000349358.3:n.*854C>G
|
|
ENST00000547691.6:c.4528G>C
(CEP290)
|
ENSP00000446905.1:p.Glu1510Gln
|
|
ENST00000547691.8:c.4317G>C
(CEP290)
|
|
|
ENST00000550333.5:c.*1597C>G
(RLIG1)
|
ENSP00000448194.1:n.*1597C>G
|
|
ENST00000552810.5:c.7348G>C
(CEP290)
|
ENSP00000448012.1:p.Glu2450Gln
|
|
ENST00000671777.2:n.1127G>C
(CEP290)
|
|
|
ENST00000672414.2:c.*5354G>C
(CEP290)
|
ENSP00000500729.1:n.*5354G>C
|
|
ENST00000672647.1:n.5708G>C
(CEP290)
|
|
|
ENST00000673058.2:c.7225G>C
(CEP290)
|
ENSP00000500665.2:p.Glu2409Gln
|
|
ENST00000674712.1:n.875G>C
(CEP290)
|
|
|
ENST00000674889.1:n.4301G>C
(CEP290)
|
|
|
ENST00000674971.1:c.*305G>C
(CEP290)
|
ENSP00000502194.1:n.*305G>C
|
|
ENST00000675230.1:c.7327G>C
(CEP290)
|
ENSP00000502503.1:p.Glu2443Gln
|
|
ENST00000675408.1:c.7183G>C
(CEP290)
|
ENSP00000502298.1:p.Glu2395Gln
|
|
ENST00000675476.1:c.8209G>C
(CEP290)
|
ENSP00000502161.1:p.Glu2737Gln
|
|
ENST00000675628.1:n.9330G>C
(CEP290)
|
|
|
ENST00000675794.1:c.*5519G>C
(CEP290)
|
ENSP00000502841.1:n.*5519G>C
|
|
ENST00000675833.1:c.8116G>C
(CEP290)
|
ENSP00000502559.1:p.Glu2706Gln
|
|
ENST00000675894.1:n.3653G>C
(CEP290)
|
|
|
ENST00000676074.1:c.*305G>C
(CEP290)
|
ENSP00000502079.1:n.*305G>C
|
|
ENST00000676181.1:n.8031G>C
(CEP290)
|
|
|
ENST00000676190.1:n.3542G>C
(CEP290)
|
|
|
ENST00000676363.1:n.13074G>C
(CEP290)
|
|
|
XM_011538756.1:c.8218G>C
(CEP290)
|
XP_011537058.1:p.Glu2740Gln
|
|
XM_011538756.3:c.8218G>C
(CEP290)
|
XP_011537058.1:p.Glu2740Gln
|
|
XM_011538757.1:c.8218G>C
(CEP290)
|
XP_011537059.1:p.Glu2740Gln
|
|
XM_011538757.3:c.8218G>C
(CEP290)
|
XP_011537059.1:p.Glu2740Gln
|
|
XM_011538758.1:c.8215G>C
(CEP290)
|
XP_011537060.1:p.Glu2739Gln
|
|
XM_011538758.3:c.8215G>C
(CEP290)
|
XP_011537060.1:p.Glu2739Gln
|
|
XM_011538759.1:c.8209G>C
(CEP290)
|
XP_011537061.1:p.Glu2737Gln
|
|
XM_011538759.2:c.8209G>C
(CEP290)
|
XP_011537061.1:p.Glu2737Gln
|
|
XM_011538760.1:c.8095G>C
(CEP290)
|
XP_011537062.1:p.Glu2699Gln
|
|
XM_011538760.2:c.8095G>C
(CEP290)
|
XP_011537062.1:p.Glu2699Gln
|
|
XM_011538761.1:c.8053G>C
(CEP290)
|
XP_011537063.1:p.Glu2685Gln
|
|
XM_011538761.2:c.8053G>C
(CEP290)
|
XP_011537063.1:p.Glu2685Gln
|
|
XM_011538762.1:c.7450G>C
(CEP290)
|
XP_011537064.1:p.Glu2484Gln
|
|
XM_011538762.3:c.7450G>C
(CEP290)
|
XP_011537064.1:p.Glu2484Gln
|
|
XM_011538763.1:c.7357G>C
(CEP290)
|
XP_011537065.1:p.Glu2453Gln
|
|
XM_011538763.3:c.7357G>C
(CEP290)
|
XP_011537065.1:p.Glu2453Gln
|
|
XM_011538766.1:c.6679G>C
(CEP290)
|
XP_011537068.1:p.Glu2227Gln
|
|
XM_011538766.3:c.6679G>C
(CEP290)
|
XP_011537068.1:p.Glu2227Gln
|
|
XM_017019980.2:c.8086G>C
(CEP290)
|
XP_016875469.1:p.Glu2696Gln
|
|
XM_017019981.2:c.8044G>C
(CEP290)
|
XP_016875470.1:p.Glu2682Gln
|
|
XM_017019983.2:c.7336G>C
(CEP290)
|
XP_016875472.1:p.Glu2446Gln
|
