|
ENST00000343533.10:c.1815C>T
(ATP7A)
|
ENSP00000343026.6:p.Cys605=
|
|
|
ENST00000682742.2:n.1947C>T
(ATP7A)
|
|
|
|
ENST00000685264.1:c.1785C>T
(ATP7A)
|
ENSP00000510136.1:p.Cys595=
|
|
|
ENST00000685434.1:n.1819C>T
(ATP7A)
|
|
|
|
ENST00000686033.1:c.1785C>T
(ATP7A)
|
ENSP00000510693.1:p.Cys595=
|
|
|
ENST00000686133.1:c.1785C>T
(ATP7A)
|
ENSP00000509233.1:p.Cys595=
|
|
|
ENST00000686416.1:n.2139C>T
(ATP7A)
|
|
|
|
ENST00000686480.1:c.1785C>T
(ATP7A)
|
ENSP00000508978.1:p.Cys595=
|
|
|
ENST00000686515.1:n.1925C>T
(ATP7A)
|
|
|
|
ENST00000686543.1:c.1785C>T
(ATP7A)
|
ENSP00000509477.1:p.Cys595=
|
|
|
ENST00000686688.1:c.1785C>T
(ATP7A)
|
ENSP00000509416.1:p.Cys595=
|
|
|
ENST00000686999.1:n.2096C>T
(ATP7A)
|
|
|
|
ENST00000687086.1:c.1785C>T
(ATP7A)
|
ENSP00000509566.1:p.Cys595=
|
|
|
ENST00000687628.1:n.1886C>T
(ATP7A)
|
|
|
|
ENST00000688746.1:n.1937C>T
(ATP7A)
|
|
|
|
ENST00000689530.1:c.1785C>T
(ATP7A)
|
ENSP00000509707.1:p.Cys595=
|
|
|
ENST00000689541.1:n.2094C>T
(ATP7A)
|
|
|
|
ENST00000689649.1:c.1785C>T
(ATP7A)
|
ENSP00000509277.1:p.Cys595=
|
|
|
ENST00000689767.1:c.1878C>T
(ATP7A)
|
ENSP00000509406.1:p.Cys626=
|
|
|
ENST00000689872.1:c.1785C>T
(ATP7A)
|
ENSP00000509373.1:p.Cys595=
|
|
|
ENST00000692110.1:c.1701C>T
(ATP7A)
|
ENSP00000509366.1:p.Cys567=
|
|
|
ENST00000692908.1:c.1785C>T
(ATP7A)
|
ENSP00000508627.1:p.Cys595=
|
|
|
ENST00000693387.1:c.*1714C>T
(ATP7A)
|
ENSP00000508732.1:n.*1714C>T
|
|
|
ENST00000693398.1:c.1785C>T
(ATP7A)
|
ENSP00000510089.1:p.Cys595=
|
|
|
ENST00000341514.11:c.1785C>T
(ATP7A)
MANE Select
|
ENSP00000345728.6:p.Cys595=
|
|
|
ENST00000644362.1:c.-20+98344C>T
(PGK1)
|
ENSP00000496140.1:n.-20+98344C>T
|
|
|
ENST00000645094.1:c.*1699C>T
(ATP7A)
|
ENSP00000493605.1:n.*1699C>T
|
|
|
ENST00000341514.10:c.1785C>T
(ATP7A)
|
ENSP00000345728.6:p.Cys595=
|
|
|
ENST00000343533.9:c.1785C>T
(ATP7A)
|
ENSP00000343026.5:p.Cys595=
|
|
|
ENST00000350425.5:c.*958C>T
(ATP7A)
|
ENSP00000343678.5:n.*958C>T
|
|
|
NM_000052.6:c.1785C>T
(ATP7A)
|
NP_000043.4:p.Cys595=
|
|
|
NM_001282224.1:c.1785C>T
(ATP7A)
|
NP_001269153.1:p.Cys595=
|
|
|
NR_104109.1:n.322-22221C>T
(ATP7A)
|
|
|
|
NM_000052.7:c.1785C>T
(ATP7A)
MANE Select
|
NP_000043.4:p.Cys595=
|
|
|
NR_104109.2:n.285-22221C>T
(ATP7A)
|
|
|
|
NM_001282224.2:c.1785C>T
(ATP7A)
|
NP_001269153.1:p.Cys595=
|
|
