|
ENST00000343533.10:c.1385del
(ATP7A)
|
ENSP00000343026.6:p.Val462GlufsTer2
|
|
|
ENST00000682742.2:n.1517del
(ATP7A)
|
|
|
|
ENST00000685264.1:c.1355del
(ATP7A)
|
ENSP00000510136.1:p.Val452GlufsTer2
|
|
|
ENST00000685434.1:n.1455-66del
(ATP7A)
|
|
|
|
ENST00000686033.1:c.1355del
(ATP7A)
|
ENSP00000510693.1:p.Val452GlufsTer2
|
|
|
ENST00000686133.1:c.1355del
(ATP7A)
|
ENSP00000509233.1:p.Val452GlufsTer2
|
|
|
ENST00000686416.1:n.1709del
(ATP7A)
|
|
|
|
ENST00000686480.1:c.1355del
(ATP7A)
|
ENSP00000508978.1:p.Val452GlufsTer2
|
|
|
ENST00000686515.1:n.1495del
(ATP7A)
|
|
|
|
ENST00000686543.1:c.1355del
(ATP7A)
|
ENSP00000509477.1:p.Val452GlufsTer2
|
|
|
ENST00000686688.1:c.1355del
(ATP7A)
|
ENSP00000509416.1:p.Val452GlufsTer2
|
|
|
ENST00000686999.1:n.1666del
(ATP7A)
|
|
|
|
ENST00000687086.1:c.1355del
(ATP7A)
|
ENSP00000509566.1:p.Val452GlufsTer2
|
|
|
ENST00000687416.1:c.1355del
(ATP7A)
|
ENSP00000510310.1:p.Val452GlufsTer2
|
|
|
ENST00000687628.1:n.1456del
(ATP7A)
|
|
|
|
ENST00000688249.1:c.1355del
(ATP7A)
|
ENSP00000510644.1:p.Val452GlufsTer2
|
|
|
ENST00000688338.1:c.1355del
(ATP7A)
|
ENSP00000508672.1:p.Val452GlufsTer2
|
|
|
ENST00000688746.1:n.1507del
(ATP7A)
|
|
|
|
ENST00000689530.1:c.1355del
(ATP7A)
|
ENSP00000509707.1:p.Val452GlufsTer2
|
|
|
ENST00000689541.1:n.1664del
(ATP7A)
|
|
|
|
ENST00000689649.1:c.1355del
(ATP7A)
|
ENSP00000509277.1:p.Val452GlufsTer2
|
|
|
ENST00000689767.1:c.1355del
(ATP7A)
|
ENSP00000509406.1:p.Val452GlufsTer2
|
|
|
ENST00000689872.1:c.1355del
(ATP7A)
|
ENSP00000509373.1:p.Val452GlufsTer2
|
|
|
ENST00000691456.1:n.1646del
(ATP7A)
|
|
|
|
ENST00000692110.1:c.1337-66del
(ATP7A)
|
ENSP00000509366.1:n.1337-66del
|
|
|
ENST00000692908.1:c.1355del
(ATP7A)
|
ENSP00000508627.1:p.Val452GlufsTer2
|
|
|
ENST00000693051.1:c.1355del
(ATP7A)
|
ENSP00000510332.1:p.Val452GlufsTer2
|
|
|
ENST00000693387.1:c.*1284del
(ATP7A)
|
ENSP00000508732.1:n.*1284del
|
|
|
ENST00000693398.1:c.1355del
(ATP7A)
|
ENSP00000510089.1:p.Val452GlufsTer2
|
|
|
ENST00000341514.11:c.1355del
(ATP7A)
MANE Select
|
ENSP00000345728.6:p.Val452GlufsTer2
|
|
|
ENST00000644362.1:c.-20+87661del
(PGK1)
|
ENSP00000496140.1:n.-20+87661del
|
|
|
ENST00000645094.1:c.*1269del
(ATP7A)
|
ENSP00000493605.1:n.*1269del
|
|
|
ENST00000341514.10:c.1355del
(ATP7A)
|
ENSP00000345728.6:p.Val452GlufsTer2
|
|
|
ENST00000343533.9:c.1355del
(ATP7A)
|
ENSP00000343026.5:p.Val452GlufsTer2
|
|
|
ENST00000350425.5:c.*528del
(ATP7A)
|
ENSP00000343678.5:n.*528del
|
|
|
NM_000052.6:c.1355del
(ATP7A)
|
NP_000043.4:p.Val452GlufsTer2
|
|
|
NM_001282224.1:c.1355del
(ATP7A)
|
NP_001269153.1:p.Val452GlufsTer2
|
|
|
NR_104109.1:n.321+26735del
(ATP7A)
|
|
|
|
NM_000052.7:c.1355del
(ATP7A)
MANE Select
|
NP_000043.4:p.Val452GlufsTer2
|
|
|
NR_104109.2:n.284+26735del
(ATP7A)
|
|
|
|
NM_001282224.2:c.1355del
(ATP7A)
|
NP_001269153.1:p.Val452GlufsTer2
|
|
