|
ENST00000343533.10:c.3330_3331del
(ATP7A)
|
ENSP00000343026.6:p.Asp1111HisfsTer2
|
|
|
ENST00000682475.1:n.1717_1718del
(ATP7A)
|
|
|
|
ENST00000685033.1:c.564_565del
(ATP7A)
|
ENSP00000509269.1:p.Asp189HisfsTer2
|
|
|
ENST00000685264.1:c.3300_3301del
(ATP7A)
|
ENSP00000510136.1:p.Asp1101HisfsTer2
|
|
|
ENST00000686033.1:c.3105_3106del
(ATP7A)
|
ENSP00000510693.1:p.Asp1036HisfsTer2
|
|
|
ENST00000686133.1:c.3300_3301del
(ATP7A)
|
ENSP00000509233.1:p.Asp1101HisfsTer2
|
|
|
ENST00000686255.1:n.2331_2332del
(ATP7A)
|
|
|
|
ENST00000686543.1:c.3066_3067del
(ATP7A)
|
ENSP00000509477.1:p.Asp1023HisfsTer2
|
|
|
ENST00000687086.1:c.3300_3301del
(ATP7A)
|
ENSP00000509566.1:p.Asp1101HisfsTer2
|
|
|
ENST00000689514.1:n.1342_1343del
(ATP7A)
|
|
|
|
ENST00000689767.1:c.3393_3394del
(ATP7A)
|
ENSP00000509406.1:p.Asp1132HisfsTer2
|
|
|
ENST00000692908.1:c.3066_3067del
(ATP7A)
|
ENSP00000508627.1:p.Asp1023HisfsTer2
|
|
|
ENST00000341514.11:c.3300_3301del
(ATP7A)
MANE Select
|
ENSP00000345728.6:p.Asp1101HisfsTer2
|
|
|
ENST00000644362.1:c.-19-76257_-19-76256del
(PGK1)
|
ENSP00000496140.1:n.-19-76257_-19-76256del
|
|
|
ENST00000645094.1:c.*3214_*3215del
(ATP7A)
|
ENSP00000493605.1:n.*3214_*3215del
|
|
|
ENST00000341514.10:c.3300_3301del
(ATP7A)
|
ENSP00000345728.6:p.Asp1101HisfsTer2
|
|
|
ENST00000343533.9:c.3066_3067del
(ATP7A)
|
ENSP00000343026.5:p.Asp1023HisfsTer2
|
|
|
ENST00000350425.5:c.*2473_*2474del
(ATP7A)
|
ENSP00000343678.5:n.*2473_*2474del
|
|
|
NM_000052.6:c.3300_3301del
(ATP7A)
|
NP_000043.4:p.Asp1101HisfsTer2
|
|
|
NM_001282224.1:c.3066_3067del
(ATP7A)
|
NP_001269153.1:p.Asp1023HisfsTer2
|
|
|
NR_104109.1:n.510_511del
(ATP7A)
|
|
|
|
NM_000052.7:c.3300_3301del
(ATP7A)
MANE Select
|
NP_000043.4:p.Asp1101HisfsTer2
|
|
|
NR_104109.2:n.473_474del
(ATP7A)
|
|
|
|
NM_001282224.2:c.3066_3067del
(ATP7A)
|
NP_001269153.1:p.Asp1023HisfsTer2
|
|
