|
ENST00000378043.9:c.966G>T
(BEST1)
MANE Select
|
ENSP00000367282.4:p.Val322=
|
|
|
ENST00000378043.8:c.966G>T
(BEST1)
|
ENSP00000367282.4:p.Val322=
|
|
|
ENST00000449131.6:c.786G>T
(BEST1)
|
ENSP00000399709.2:p.Val262=
|
|
|
ENST00000524877.5:n.2597G>T
(BEST1)
|
|
|
|
ENST00000524926.5:c.1169G>T
(BEST1)
|
ENSP00000432681.1:p.Trp390Leu
|
|
|
ENST00000526988.1:c.851G>T
(BEST1)
|
ENSP00000433195.1:p.Trp284Leu
|
|
|
ENST00000529191.5:c.133C>A
(FTH1)
|
ENSP00000431659.1:p.His45Asn
|
|
|
ENST00000529631.5:c.115-5C>A
(FTH1)
|
ENSP00000431575.1:n.115-5C>A
|
|
|
ENST00000530019.5:c.262-5C>A
(FTH1)
|
ENSP00000433470.1:n.262-5C>A
|
|
|
ENST00000534553.5:c.164-2346G>T
(BEST1)
|
ENSP00000431189.1:n.164-2346G>T
|
|
|
NM_001139443.1:c.786G>T
(BEST1)
|
NP_001132915.1:p.Val262=
|
|
|
NM_001300786.1:c.705G>T
(BEST1)
|
NP_001287715.1:p.Val235=
|
|
|
NM_001300787.1:c.786G>T
(BEST1)
|
NP_001287716.1:p.Val262=
|
|
|
NM_004183.3:c.966G>T
(BEST1)
|
NP_004174.1:p.Val322=
|
|
|
XM_005274210.2:c.966G>T
(BEST1)
|
XP_005274267.1:p.Val322=
|
|
|
XM_005274215.2:c.648G>T
(BEST1)
|
XP_005274272.1:p.Val216=
|
|
|
XM_005274216.2:c.989G>T
(BEST1)
|
XP_005274273.1:p.Trp330Leu
|
|
|
XM_005274218.3:c.851G>T
(BEST1)
|
XP_005274275.1:p.Trp284Leu
|
|
|
XM_005274219.2:c.867+1611G>T
(BEST1)
|
XP_005274276.1:n.867+1611G>T
|
|
|
XM_005274221.2:c.715-2346G>T
(BEST1)
|
XP_005274278.1:n.715-2346G>T
|
|
|
XM_011545229.1:c.966G>T
(BEST1)
|
XP_011543531.1:p.Val322=
|
|
|
XM_011545230.1:c.873G>T
(BEST1)
|
XP_011543532.1:p.Val291=
|
|
|
XM_011545231.1:c.648G>T
(BEST1)
|
XP_011543533.1:p.Val216=
|
|
|
XM_011545232.1:c.1169G>T
(BEST1)
|
XP_011543534.1:p.Trp390Leu
|
|
|
XM_011545233.1:c.123G>T
(BEST1)
|
XP_011543535.1:p.Val41=
|
|
|
NM_001363591.1:c.648G>T
(BEST1)
|
NP_001350520.1:p.Val216=
|
|
|
NM_001363592.1:c.1169G>T
(BEST1)
|
NP_001350521.1:p.Trp390Leu
|
|
|
NM_001363593.1:c.-7G>T
(BEST1)
|
NP_001350522.1:n.-7G>T
|
|
|
NR_134580.1:n.1749G>T
(BEST1)
|
|
|
|
XM_005274210.4:c.966G>T
(BEST1)
|
XP_005274267.1:p.Val322=
|
|
|
XM_005274215.4:c.648G>T
(BEST1)
|
XP_005274272.1:p.Val216=
|
|
|
XM_005274216.4:c.989G>T
(BEST1)
|
XP_005274273.1:p.Trp330Leu
|
|
|
XM_005274219.4:c.867+1611G>T
(BEST1)
|
XP_005274276.1:n.867+1611G>T
|
|
|
XM_005274221.4:c.715-2346G>T
(BEST1)
|
XP_005274278.1:n.715-2346G>T
|
|
|
XM_011545229.3:c.966G>T
(BEST1)
|
XP_011543531.1:p.Val322=
|
|
|
XM_011545230.3:c.873G>T
(BEST1)
|
XP_011543532.1:p.Val291=
|
|
|
XM_011545233.3:c.123G>T
(BEST1)
|
XP_011543535.1:p.Val41=
|
|
|
XM_017018230.2:c.851G>T
(BEST1)
|
XP_016873719.1:p.Trp284Leu
|
|
|
XR_001747952.2:n.1667G>T
(BEST1)
|
|
|
|
XR_001747953.2:n.1557+1611G>T
(BEST1)
|
|
|
|
XR_001747954.2:n.1405-2346G>T
(BEST1)
|
|
|
|
XR_001748245.1:n.19C>A
|
|
|
|
XR_002957249.1:n.19C>A
|
|
|
|
NM_004183.4:c.966G>T
(BEST1)
MANE Select
|
NP_004174.1:p.Val322=
|
|
|
NM_001139443.2:c.786G>T
(BEST1)
|
NP_001132915.1:p.Val262=
|
|
|
NM_001300786.2:c.705G>T
(BEST1)
|
NP_001287715.1:p.Val235=
|
|
|
NM_001300787.2:c.786G>T
(BEST1)
|
NP_001287716.1:p.Val262=
|
|
|
NM_001363591.2:c.648G>T
(BEST1)
|
NP_001350520.1:p.Val216=
|
|
|
NM_001363593.2:c.-7G>T
(BEST1)
|
NP_001350522.1:n.-7G>T
|
|
|
NR_134580.2:n.1282G>T
(BEST1)
|
|
|
