|
ENST00000378043.9:c.992G>T
(BEST1)
MANE Select
|
ENSP00000367282.4:p.Arg331Leu
|
|
|
ENST00000378043.8:c.992G>T
(BEST1)
|
ENSP00000367282.4:p.Arg331Leu
|
|
|
ENST00000449131.6:c.812G>T
(BEST1)
|
ENSP00000399709.2:p.Arg271Leu
|
|
|
ENST00000524877.5:n.2623G>T
(BEST1)
|
|
|
|
ENST00000524926.5:c.1195G>T
(BEST1)
|
ENSP00000432681.1:p.Gly399Ter
|
|
|
ENST00000526988.1:c.877G>T
(BEST1)
|
ENSP00000433195.1:p.Gly293Ter
|
|
|
ENST00000529191.5:c.115-8C>A
(FTH1)
|
ENSP00000431659.1:n.115-8C>A
|
|
|
ENST00000529631.5:c.115-31C>A
(FTH1)
|
ENSP00000431575.1:n.115-31C>A
|
|
|
ENST00000530019.5:c.262-31C>A
(FTH1)
|
ENSP00000433470.1:n.262-31C>A
|
|
|
ENST00000534553.5:c.164-2320G>T
(BEST1)
|
ENSP00000431189.1:n.164-2320G>T
|
|
|
NM_001139443.1:c.812G>T
(BEST1)
|
NP_001132915.1:p.Arg271Leu
|
|
|
NM_001300786.1:c.731G>T
(BEST1)
|
NP_001287715.1:p.Arg244Leu
|
|
|
NM_001300787.1:c.812G>T
(BEST1)
|
NP_001287716.1:p.Arg271Leu
|
|
|
NM_004183.3:c.992G>T
(BEST1)
|
NP_004174.1:p.Arg331Leu
|
|
|
XM_005274210.2:c.992G>T
(BEST1)
|
XP_005274267.1:p.Arg331Leu
|
|
|
XM_005274215.2:c.674G>T
(BEST1)
|
XP_005274272.1:p.Arg225Leu
|
|
|
XM_005274216.2:c.1015G>T
(BEST1)
|
XP_005274273.1:p.Gly339Ter
|
|
|
XM_005274218.3:c.877G>T
(BEST1)
|
XP_005274275.1:p.Gly293Ter
|
|
|
XM_005274219.2:c.867+1637G>T
(BEST1)
|
XP_005274276.1:n.867+1637G>T
|
|
|
XM_005274221.2:c.715-2320G>T
(BEST1)
|
XP_005274278.1:n.715-2320G>T
|
|
|
XM_011545229.1:c.992G>T
(BEST1)
|
XP_011543531.1:p.Arg331Leu
|
|
|
XM_011545230.1:c.899G>T
(BEST1)
|
XP_011543532.1:p.Arg300Leu
|
|
|
XM_011545231.1:c.674G>T
(BEST1)
|
XP_011543533.1:p.Arg225Leu
|
|
|
XM_011545232.1:c.1195G>T
(BEST1)
|
XP_011543534.1:p.Gly399Ter
|
|
|
XM_011545233.1:c.149G>T
(BEST1)
|
XP_011543535.1:p.Arg50Leu
|
|
|
NM_001363591.1:c.674G>T
(BEST1)
|
NP_001350520.1:p.Arg225Leu
|
|
|
NM_001363592.1:c.1195G>T
(BEST1)
|
NP_001350521.1:p.Gly399Ter
|
|
|
NM_001363593.1:c.20G>T
(BEST1)
|
NP_001350522.1:p.Arg7Leu
|
|
|
NR_134580.1:n.1775G>T
(BEST1)
|
|
|
|
XM_005274210.4:c.992G>T
(BEST1)
|
XP_005274267.1:p.Arg331Leu
|
|
|
XM_005274215.4:c.674G>T
(BEST1)
|
XP_005274272.1:p.Arg225Leu
|
|
|
XM_005274216.4:c.1015G>T
(BEST1)
|
XP_005274273.1:p.Gly339Ter
|
|
|
XM_005274219.4:c.867+1637G>T
(BEST1)
|
XP_005274276.1:n.867+1637G>T
|
|
|
XM_005274221.4:c.715-2320G>T
(BEST1)
|
XP_005274278.1:n.715-2320G>T
|
|
|
XM_011545229.3:c.992G>T
(BEST1)
|
XP_011543531.1:p.Arg331Leu
|
|
|
XM_011545230.3:c.899G>T
(BEST1)
|
XP_011543532.1:p.Arg300Leu
|
|
|
XM_011545233.3:c.149G>T
(BEST1)
|
XP_011543535.1:p.Arg50Leu
|
|
|
XM_017018230.2:c.877G>T
(BEST1)
|
XP_016873719.1:p.Gly293Ter
|
|
|
XR_001747952.2:n.1693G>T
(BEST1)
|
|
|
|
XR_001747953.2:n.1557+1637G>T
(BEST1)
|
|
|
|
XR_001747954.2:n.1405-2320G>T
(BEST1)
|
|
|
|
NM_004183.4:c.992G>T
(BEST1)
MANE Select
|
NP_004174.1:p.Arg331Leu
|
|
|
NM_001139443.2:c.812G>T
(BEST1)
|
NP_001132915.1:p.Arg271Leu
|
|
|
NM_001300786.2:c.731G>T
(BEST1)
|
NP_001287715.1:p.Arg244Leu
|
|
|
NM_001300787.2:c.812G>T
(BEST1)
|
NP_001287716.1:p.Arg271Leu
|
|
|
NM_001363591.2:c.674G>T
(BEST1)
|
NP_001350520.1:p.Arg225Leu
|
|
|
NM_001363593.2:c.20G>T
(BEST1)
|
NP_001350522.1:p.Arg7Leu
|
|
|
NR_134580.2:n.1308G>T
(BEST1)
|
|
|
