|
ENST00000473665.2:n.5982G>C
|
|
|
|
ENST00000482662.2:n.4389G>C
|
|
|
|
ENST00000685865.1:n.2341G>C
|
|
|
|
ENST00000687250.1:n.2041G>C
|
|
|
|
ENST00000687995.1:n.1856G>C
|
|
|
|
ENST00000688205.1:c.*1097G>C
|
ENSP00000509673.1:n.*1097G>C
|
|
|
ENST00000688788.1:n.1743G>C
|
|
|
|
ENST00000689276.1:c.1435G>C
|
ENSP00000510012.1:p.Val479Leu
|
|
|
ENST00000689576.1:c.*123G>C
|
ENSP00000508712.1:n.*123G>C
|
|
|
ENST00000690108.1:c.*1160G>C
|
ENSP00000510617.1:n.*1160G>C
|
|
|
ENST00000690468.1:c.*56G>C
|
ENSP00000509078.1:n.*56G>C
|
|
|
ENST00000690595.1:c.829G>C
|
ENSP00000508979.1:p.Val277Leu
|
|
|
ENST00000691348.1:c.*56G>C
|
ENSP00000509369.1:n.*56G>C
|
|
|
ENST00000691410.1:c.*1081G>C
|
ENSP00000508479.1:n.*1081G>C
|
|
|
ENST00000693287.1:c.820G>C
|
ENSP00000510264.1:p.Val274Leu
|
|
|
ENST00000693681.1:c.817G>C
|
ENSP00000510789.1:p.Val273Leu
|
|
|
ENST00000233838.9:c.1504G>C
MANE Select
|
ENSP00000233838.3:p.Val502Leu
|
|
|
ENST00000233838.8:c.1504G>C
|
ENSP00000233838.3:p.Val502Leu
|
|
|
ENST00000430215.7:c.1333G>C
|
ENSP00000408045.3:p.Val445Leu
|
|
|
ENST00000465637.5:n.179-3913G>C
|
|
|
|
NM_000821.5:c.1504G>C
|
NP_000812.2:p.Val502Leu
|
|
|
NM_000821.6:c.1504G>C
|
NP_000812.2:p.Val502Leu
|
|
|
NM_001142269.2:c.1333G>C
|
NP_001135741.1:p.Val445Leu
|
|
|
NM_001142269.3:c.1333G>C
|
NP_001135741.1:p.Val445Leu
|
|
|
XM_005264259.3:c.1504G>C
|
XP_005264316.1:p.Val502Leu
|
|
|
XM_011532764.1:c.682G>C
|
XP_011531066.1:p.Val228Leu
|
|
|
XM_011532765.1:c.682G>C
|
XP_011531067.1:p.Val228Leu
|
|
|
XR_939677.1:n.1417G>C
|
|
|
|
XM_005264259.5:c.1504G>C
|
XP_005264316.1:p.Val502Leu
|
|
|
XM_011532764.3:c.682G>C
|
XP_011531066.1:p.Val228Leu
|
|
|
XM_011532765.3:c.682G>C
|
XP_011531067.1:p.Val228Leu
|
|
|
XM_017003803.2:c.1333G>C
|
XP_016859292.1:p.Val445Leu
|
|
|
XR_001738703.2:n.1417G>C
|
|
|
|
NM_000821.7:c.1504G>C
MANE Select
|
NP_000812.2:p.Val502Leu
|
|
|
NM_001142269.4:c.1333G>C
|
NP_001135741.1:p.Val445Leu
|
|
