|
ENST00000343533.10:c.549G>T
(ATP7A)
|
ENSP00000343026.6:p.Leu183=
|
|
|
ENST00000682742.2:n.681G>T
(ATP7A)
|
|
|
|
ENST00000685208.1:n.681G>T
(ATP7A)
|
|
|
|
ENST00000685264.1:c.519G>T
(ATP7A)
|
ENSP00000510136.1:p.Leu173=
|
|
|
ENST00000685434.1:n.637G>T
(ATP7A)
|
|
|
|
ENST00000685885.1:c.555G>T
(ATP7A)
|
ENSP00000510005.1:p.Leu185=
|
|
|
ENST00000686033.1:c.519G>T
(ATP7A)
|
ENSP00000510693.1:p.Leu173=
|
|
|
ENST00000686133.1:c.519G>T
(ATP7A)
|
ENSP00000509233.1:p.Leu173=
|
|
|
ENST00000686416.1:n.873G>T
(ATP7A)
|
|
|
|
ENST00000686480.1:c.519G>T
(ATP7A)
|
ENSP00000508978.1:p.Leu173=
|
|
|
ENST00000686515.1:n.659G>T
(ATP7A)
|
|
|
|
ENST00000686543.1:c.519G>T
(ATP7A)
|
ENSP00000509477.1:p.Leu173=
|
|
|
ENST00000686688.1:c.519G>T
(ATP7A)
|
ENSP00000509416.1:p.Leu173=
|
|
|
ENST00000686999.1:n.830G>T
(ATP7A)
|
|
|
|
ENST00000687082.1:n.637G>T
(ATP7A)
|
|
|
|
ENST00000687086.1:c.519G>T
(ATP7A)
|
ENSP00000509566.1:p.Leu173=
|
|
|
ENST00000687325.1:n.822G>T
(ATP7A)
|
|
|
|
ENST00000687416.1:c.519G>T
(ATP7A)
|
ENSP00000510310.1:p.Leu173=
|
|
|
ENST00000687599.1:c.519G>T
(ATP7A)
|
ENSP00000508745.1:p.Leu173=
|
|
|
ENST00000687628.1:n.620G>T
(ATP7A)
|
|
|
|
ENST00000687984.1:c.519G>T
(ATP7A)
|
ENSP00000510772.1:p.Leu173=
|
|
|
ENST00000688249.1:c.519G>T
(ATP7A)
|
ENSP00000510644.1:p.Leu173=
|
|
|
ENST00000688338.1:c.519G>T
(ATP7A)
|
ENSP00000508672.1:p.Leu173=
|
|
|
ENST00000688746.1:n.671G>T
(ATP7A)
|
|
|
|
ENST00000688889.1:c.*433G>T
(ATP7A)
|
ENSP00000508610.1:n.*433G>T
|
|
|
ENST00000689530.1:c.519G>T
(ATP7A)
|
ENSP00000509707.1:p.Leu173=
|
|
|
ENST00000689541.1:n.828G>T
(ATP7A)
|
|
|
|
ENST00000689649.1:c.519G>T
(ATP7A)
|
ENSP00000509277.1:p.Leu173=
|
|
|
ENST00000689767.1:c.519G>T
(ATP7A)
|
ENSP00000509406.1:p.Leu173=
|
|
|
ENST00000689872.1:c.519G>T
(ATP7A)
|
ENSP00000509373.1:p.Leu173=
|
|
|
ENST00000689891.1:c.519G>T
(ATP7A)
|
ENSP00000508974.1:p.Leu173=
|
|
|
ENST00000691152.1:c.519G>T
(ATP7A)
|
ENSP00000508843.1:p.Leu173=
|
|
|
ENST00000691456.1:n.810G>T
(ATP7A)
|
|
|
|
ENST00000692110.1:c.519G>T
(ATP7A)
|
ENSP00000509366.1:p.Leu173=
|
|
|
ENST00000692908.1:c.519G>T
(ATP7A)
|
ENSP00000508627.1:p.Leu173=
|
|
|
ENST00000693051.1:c.519G>T
(ATP7A)
|
ENSP00000510332.1:p.Leu173=
|
|
|
ENST00000693387.1:c.*448G>T
(ATP7A)
|
ENSP00000508732.1:n.*448G>T
|
|
|
ENST00000693398.1:c.519G>T
(ATP7A)
|
ENSP00000510089.1:p.Leu173=
|
|
|
ENST00000341514.11:c.519G>T
(ATP7A)
MANE Select
|
ENSP00000345728.6:p.Leu173=
|
|
|
ENST00000644362.1:c.-20+77805G>T
(PGK1)
|
ENSP00000496140.1:n.-20+77805G>T
|
|
|
ENST00000645094.1:c.*433G>T
(ATP7A)
|
ENSP00000493605.1:n.*433G>T
|
|
|
ENST00000341514.10:c.519G>T
(ATP7A)
|
ENSP00000345728.6:p.Leu173=
|
|
|
ENST00000343533.9:c.519G>T
(ATP7A)
|
ENSP00000343026.5:p.Leu173=
|
|
|
ENST00000350425.5:c.519G>T
(ATP7A)
|
ENSP00000343678.5:p.Leu173=
|
|
|
NM_000052.6:c.519G>T
(ATP7A)
|
NP_000043.4:p.Leu173=
|
|
|
NM_001282224.1:c.519G>T
(ATP7A)
|
NP_001269153.1:p.Leu173=
|
|
|
NR_104109.1:n.321+16879G>T
(ATP7A)
|
|
|
|
NM_000052.7:c.519G>T
(ATP7A)
MANE Select
|
NP_000043.4:p.Leu173=
|
|
|
NR_104109.2:n.284+16879G>T
(ATP7A)
|
|
|
|
NM_001282224.2:c.519G>T
(ATP7A)
|
NP_001269153.1:p.Leu173=
|
|
