|
ENST00000343533.10:c.1697_1698del
(ATP7A)
|
ENSP00000343026.6:p.Ile566ArgfsTer4
|
|
|
ENST00000682742.2:n.1829_1830del
(ATP7A)
|
|
|
|
ENST00000685264.1:c.1667_1668del
(ATP7A)
|
ENSP00000510136.1:p.Ile556ArgfsTer4
|
|
|
ENST00000685434.1:n.1701_1702del
(ATP7A)
|
|
|
|
ENST00000686033.1:c.1667_1668del
(ATP7A)
|
ENSP00000510693.1:p.Ile556ArgfsTer4
|
|
|
ENST00000686133.1:c.1667_1668del
(ATP7A)
|
ENSP00000509233.1:p.Ile556ArgfsTer4
|
|
|
ENST00000686416.1:n.2021_2022del
(ATP7A)
|
|
|
|
ENST00000686480.1:c.1667_1668del
(ATP7A)
|
ENSP00000508978.1:p.Ile556ArgfsTer4
|
|
|
ENST00000686515.1:n.1807_1808del
(ATP7A)
|
|
|
|
ENST00000686543.1:c.1667_1668del
(ATP7A)
|
ENSP00000509477.1:p.Ile556ArgfsTer4
|
|
|
ENST00000686688.1:c.1667_1668del
(ATP7A)
|
ENSP00000509416.1:p.Ile556ArgfsTer4
|
|
|
ENST00000686999.1:n.1978_1979del
(ATP7A)
|
|
|
|
ENST00000687086.1:c.1667_1668del
(ATP7A)
|
ENSP00000509566.1:p.Ile556ArgfsTer4
|
|
|
ENST00000687416.1:c.1667_1668del
(ATP7A)
|
ENSP00000510310.1:p.Ile556ArgfsTer4
|
|
|
ENST00000687628.1:n.1768_1769del
(ATP7A)
|
|
|
|
ENST00000688249.1:c.1667_1668del
(ATP7A)
|
ENSP00000510644.1:p.Ile556ArgfsTer4
|
|
|
ENST00000688338.1:c.*799_*800del
(ATP7A)
|
ENSP00000508672.1:n.*799_*800del
|
|
|
ENST00000688746.1:n.1819_1820del
(ATP7A)
|
|
|
|
ENST00000689530.1:c.1667_1668del
(ATP7A)
|
ENSP00000509707.1:p.Ile556ArgfsTer4
|
|
|
ENST00000689541.1:n.1976_1977del
(ATP7A)
|
|
|
|
ENST00000689649.1:c.1667_1668del
(ATP7A)
|
ENSP00000509277.1:p.Ile556ArgfsTer4
|
|
|
ENST00000689767.1:c.1760_1761del
(ATP7A)
|
ENSP00000509406.1:p.Ile587ArgfsTer4
|
|
|
ENST00000689872.1:c.1667_1668del
(ATP7A)
|
ENSP00000509373.1:p.Ile556ArgfsTer4
|
|
|
ENST00000692110.1:c.1583_1584del
(ATP7A)
|
ENSP00000509366.1:p.Ile528ArgfsTer4
|
|
|
ENST00000692908.1:c.1667_1668del
(ATP7A)
|
ENSP00000508627.1:p.Ile556ArgfsTer4
|
|
|
ENST00000693051.1:c.1667_1668del
(ATP7A)
|
ENSP00000510332.1:p.Ile556ArgfsTer4
|
|
|
ENST00000693387.1:c.*1596_*1597del
(ATP7A)
|
ENSP00000508732.1:n.*1596_*1597del
|
|
|
ENST00000693398.1:c.1667_1668del
(ATP7A)
|
ENSP00000510089.1:p.Ile556ArgfsTer4
|
|
|
ENST00000341514.11:c.1667_1668del
(ATP7A)
MANE Select
|
ENSP00000345728.6:p.Ile556ArgfsTer4
|
|
|
ENST00000644362.1:c.-20+92361_-20+92362del
(PGK1)
|
ENSP00000496140.1:n.-20+92361_-20+92362del
|
|
|
ENST00000645094.1:c.*1581_*1582del
(ATP7A)
|
ENSP00000493605.1:n.*1581_*1582del
|
|
|
ENST00000341514.10:c.1667_1668del
(ATP7A)
|
ENSP00000345728.6:p.Ile556ArgfsTer4
|
|
|
ENST00000343533.9:c.1667_1668del
(ATP7A)
|
ENSP00000343026.5:p.Ile556ArgfsTer4
|
|
|
ENST00000350425.5:c.*840_*841del
(ATP7A)
|
ENSP00000343678.5:n.*840_*841del
|
|
|
NM_000052.6:c.1667_1668del
(ATP7A)
|
NP_000043.4:p.Ile556ArgfsTer4
|
|
|
NM_001282224.1:c.1667_1668del
(ATP7A)
|
NP_001269153.1:p.Ile556ArgfsTer4
|
|
|
NR_104109.1:n.322-28204_322-28203del
(ATP7A)
|
|
|
|
NM_000052.7:c.1667_1668del
(ATP7A)
MANE Select
|
NP_000043.4:p.Ile556ArgfsTer4
|
|
|
NR_104109.2:n.285-28204_285-28203del
(ATP7A)
|
|
|
|
NM_001282224.2:c.1667_1668del
(ATP7A)
|
NP_001269153.1:p.Ile556ArgfsTer4
|
|
