|
ENST00000343533.10:c.2986C>T
(ATP7A)
|
ENSP00000343026.6:p.Arg996Ter
|
|
|
ENST00000682475.1:n.1373C>T
(ATP7A)
|
|
|
|
ENST00000685033.1:c.376-2111C>T
(ATP7A)
|
ENSP00000509269.1:n.376-2111C>T
|
|
|
ENST00000685264.1:c.2956C>T
(ATP7A)
|
ENSP00000510136.1:p.Arg986Ter
|
|
|
ENST00000686033.1:c.2917-2111C>T
(ATP7A)
|
ENSP00000510693.1:n.2917-2111C>T
|
|
|
ENST00000686133.1:c.2956C>T
(ATP7A)
|
ENSP00000509233.1:p.Arg986Ter
|
|
|
ENST00000686255.1:n.1987C>T
(ATP7A)
|
|
|
|
ENST00000686543.1:c.2722C>T
(ATP7A)
|
ENSP00000509477.1:p.Arg908Ter
|
|
|
ENST00000687086.1:c.2956C>T
(ATP7A)
|
ENSP00000509566.1:p.Arg986Ter
|
|
|
ENST00000689514.1:n.998C>T
(ATP7A)
|
|
|
|
ENST00000689767.1:c.3049C>T
(ATP7A)
|
ENSP00000509406.1:p.Arg1017Ter
|
|
|
ENST00000692908.1:c.2722C>T
(ATP7A)
|
ENSP00000508627.1:p.Arg908Ter
|
|
|
ENST00000341514.11:c.2956C>T
(ATP7A)
MANE Select
|
ENSP00000345728.6:p.Arg986Ter
|
|
|
ENST00000644362.1:c.-19-80578C>T
(PGK1)
|
ENSP00000496140.1:n.-19-80578C>T
|
|
|
ENST00000645094.1:c.*2870C>T
(ATP7A)
|
ENSP00000493605.1:n.*2870C>T
|
|
|
ENST00000341514.10:c.2956C>T
(ATP7A)
|
ENSP00000345728.6:p.Arg986Ter
|
|
|
ENST00000343533.9:c.2722C>T
(ATP7A)
|
ENSP00000343026.5:p.Arg908Ter
|
|
|
ENST00000350425.5:c.*2129C>T
(ATP7A)
|
ENSP00000343678.5:n.*2129C>T
|
|
|
NM_000052.6:c.2956C>T
(ATP7A)
|
NP_000043.4:p.Arg986Ter
|
|
|
NM_001282224.1:c.2722C>T
(ATP7A)
|
NP_001269153.1:p.Arg908Ter
|
|
|
NR_104109.1:n.322-2111C>T
(ATP7A)
|
|
|
|
NM_000052.7:c.2956C>T
(ATP7A)
MANE Select
|
NP_000043.4:p.Arg986Ter
|
|
|
NR_104109.2:n.285-2111C>T
(ATP7A)
|
|
|
|
NM_001282224.2:c.2722C>T
(ATP7A)
|
NP_001269153.1:p.Arg908Ter
|
|
