|
ENST00000343533.10:c.546G>T
(ATP7A)
|
ENSP00000343026.6:p.Val182=
|
|
|
ENST00000682742.2:n.678G>T
(ATP7A)
|
|
|
|
ENST00000685208.1:n.678G>T
(ATP7A)
|
|
|
|
ENST00000685264.1:c.516G>T
(ATP7A)
|
ENSP00000510136.1:p.Val172=
|
|
|
ENST00000685434.1:n.634G>T
(ATP7A)
|
|
|
|
ENST00000685885.1:c.552G>T
(ATP7A)
|
ENSP00000510005.1:p.Val184=
|
|
|
ENST00000686033.1:c.516G>T
(ATP7A)
|
ENSP00000510693.1:p.Val172=
|
|
|
ENST00000686133.1:c.516G>T
(ATP7A)
|
ENSP00000509233.1:p.Val172=
|
|
|
ENST00000686416.1:n.870G>T
(ATP7A)
|
|
|
|
ENST00000686480.1:c.516G>T
(ATP7A)
|
ENSP00000508978.1:p.Val172=
|
|
|
ENST00000686515.1:n.656G>T
(ATP7A)
|
|
|
|
ENST00000686543.1:c.516G>T
(ATP7A)
|
ENSP00000509477.1:p.Val172=
|
|
|
ENST00000686688.1:c.516G>T
(ATP7A)
|
ENSP00000509416.1:p.Val172=
|
|
|
ENST00000686999.1:n.827G>T
(ATP7A)
|
|
|
|
ENST00000687082.1:n.634G>T
(ATP7A)
|
|
|
|
ENST00000687086.1:c.516G>T
(ATP7A)
|
ENSP00000509566.1:p.Val172=
|
|
|
ENST00000687325.1:n.819G>T
(ATP7A)
|
|
|
|
ENST00000687416.1:c.516G>T
(ATP7A)
|
ENSP00000510310.1:p.Val172=
|
|
|
ENST00000687599.1:c.516G>T
(ATP7A)
|
ENSP00000508745.1:p.Val172=
|
|
|
ENST00000687628.1:n.617G>T
(ATP7A)
|
|
|
|
ENST00000687984.1:c.516G>T
(ATP7A)
|
ENSP00000510772.1:p.Val172=
|
|
|
ENST00000688249.1:c.516G>T
(ATP7A)
|
ENSP00000510644.1:p.Val172=
|
|
|
ENST00000688338.1:c.516G>T
(ATP7A)
|
ENSP00000508672.1:p.Val172=
|
|
|
ENST00000688746.1:n.668G>T
(ATP7A)
|
|
|
|
ENST00000688889.1:c.*430G>T
(ATP7A)
|
ENSP00000508610.1:n.*430G>T
|
|
|
ENST00000689530.1:c.516G>T
(ATP7A)
|
ENSP00000509707.1:p.Val172=
|
|
|
ENST00000689541.1:n.825G>T
(ATP7A)
|
|
|
|
ENST00000689649.1:c.516G>T
(ATP7A)
|
ENSP00000509277.1:p.Val172=
|
|
|
ENST00000689767.1:c.516G>T
(ATP7A)
|
ENSP00000509406.1:p.Val172=
|
|
|
ENST00000689872.1:c.516G>T
(ATP7A)
|
ENSP00000509373.1:p.Val172=
|
|
|
ENST00000689891.1:c.516G>T
(ATP7A)
|
ENSP00000508974.1:p.Val172=
|
|
|
ENST00000691152.1:c.516G>T
(ATP7A)
|
ENSP00000508843.1:p.Val172=
|
|
|
ENST00000691456.1:n.807G>T
(ATP7A)
|
|
|
|
ENST00000692110.1:c.516G>T
(ATP7A)
|
ENSP00000509366.1:p.Val172=
|
|
|
ENST00000692908.1:c.516G>T
(ATP7A)
|
ENSP00000508627.1:p.Val172=
|
|
|
ENST00000693051.1:c.516G>T
(ATP7A)
|
ENSP00000510332.1:p.Val172=
|
|
|
ENST00000693387.1:c.*445G>T
(ATP7A)
|
ENSP00000508732.1:n.*445G>T
|
|
|
ENST00000693398.1:c.516G>T
(ATP7A)
|
ENSP00000510089.1:p.Val172=
|
|
|
ENST00000341514.11:c.516G>T
(ATP7A)
MANE Select
|
ENSP00000345728.6:p.Val172=
|
|
|
ENST00000644362.1:c.-20+77802G>T
(PGK1)
|
ENSP00000496140.1:n.-20+77802G>T
|
|
|
ENST00000645094.1:c.*430G>T
(ATP7A)
|
ENSP00000493605.1:n.*430G>T
|
|
|
ENST00000341514.10:c.516G>T
(ATP7A)
|
ENSP00000345728.6:p.Val172=
|
|
|
ENST00000343533.9:c.516G>T
(ATP7A)
|
ENSP00000343026.5:p.Val172=
|
|
|
ENST00000350425.5:c.516G>T
(ATP7A)
|
ENSP00000343678.5:p.Val172=
|
|
|
NM_000052.6:c.516G>T
(ATP7A)
|
NP_000043.4:p.Val172=
|
|
|
NM_001282224.1:c.516G>T
(ATP7A)
|
NP_001269153.1:p.Val172=
|
|
|
NR_104109.1:n.321+16876G>T
(ATP7A)
|
|
|
|
NM_000052.7:c.516G>T
(ATP7A)
MANE Select
|
NP_000043.4:p.Val172=
|
|
|
NR_104109.2:n.284+16876G>T
(ATP7A)
|
|
|
|
NM_001282224.2:c.516G>T
(ATP7A)
|
NP_001269153.1:p.Val172=
|
|
