Annotation Detail
Information
- Associated Genes
- ATP7A
- Associated Variants
-
ATP7A p.Glu141AlafsTer20 (p.E141Afs*20)
(
ENST00000341514.11,
ENST00000343533.10,
ENST00000685264.1,
ENST00000686033.1,
ENST00000686133.1,
ENST00000686480.1,
ENST00000686543.1,
ENST00000686688.1,
ENST00000687086.1,
ENST00000687416.1,
ENST00000687599.1,
ENST00000687984.1,
ENST00000688249.1,
ENST00000688338.1,
ENST00000689649.1,
ENST00000689767.1,
ENST00000689891.1,
ENST00000691152.1,
ENST00000692908.1,
ENST00000693051.1,
ENST00000693398.1,
ENST00000644362.1 )
ATP7A p.Ser293GlnfsTer13 (p.S293Qfs*13) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000687416.1, ENST00000687599.1, ENST00000687984.1, ENST00000688249.1, ENST00000688338.1, ENST00000689649.1, ENST00000689767.1, ENST00000689891.1, ENST00000691152.1, ENST00000692908.1, ENST00000693051.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Val452GlufsTer2 (p.V452Efs*2) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000687416.1, ENST00000688249.1, ENST00000688338.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693051.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Ile556ArgfsTer4 (p.I556Rfs*4) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000687416.1, ENST00000688249.1, ENST00000688338.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693051.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Ala768GlnfsTer8 (p.A768Qfs*8) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A c.2916+3_2916+6delAAGT ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Ile1024_Gly1028del (p.I1024_G1028del) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Val1042TyrfsTer15 (p.V1042Yfs*15) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Val1114CysfsTer24 (p.V1114Cfs*24) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Val1180SerfsTer9 (p.V1180Sfs*9) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Pro1307GlnfsTer18 (p.P1307Qfs*18) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Leu1339del (p.L1339del) ( ENST00000343533.10, ENST00000341514.11, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Glu141AlafsTer20 (p.E141Afs*20) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000687416.1, ENST00000687599.1, ENST00000687984.1, ENST00000688249.1, ENST00000688338.1, ENST00000689649.1, ENST00000689767.1, ENST00000689891.1, ENST00000691152.1, ENST00000692908.1, ENST00000693051.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Ser293GlnfsTer13 (p.S293Qfs*13) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000687416.1, ENST00000687599.1, ENST00000687984.1, ENST00000688249.1, ENST00000688338.1, ENST00000689649.1, ENST00000689767.1, ENST00000689891.1, ENST00000691152.1, ENST00000692908.1, ENST00000693051.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Val452GlufsTer2 (p.V452Efs*2) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000687416.1, ENST00000688249.1, ENST00000688338.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693051.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Ile556ArgfsTer4 (p.I556Rfs*4) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000687416.1, ENST00000688249.1, ENST00000688338.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693051.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Ala768GlnfsTer8 (p.A768Qfs*8) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A c.2916+3_2916+6delAAGT ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Ile1024_Gly1028del (p.I1024_G1028del) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Val1042TyrfsTer15 (p.V1042Yfs*15) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Val1114CysfsTer24 (p.V1114Cfs*24) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Val1180SerfsTer9 (p.V1180Sfs*9) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Pro1307GlnfsTer18 (p.P1307Qfs*18) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Leu1339del (p.L1339del) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.His799SerfsTer26 (p.H799Sfs*26) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Lys802MetfsTer11 (p.K802Mfs*11) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Phe1043_Asp1044delinsSerThrGly (p.F1043_D1044delinsSTG) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.His1051?fsTer6 (p.H1051?fs*6) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Ser1258ArgfsTer2 (p.S1258Rfs*2) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Lys1259LeufsTer29 (p.K1259Lfs*29) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.His799SerfsTer26 (p.H799Sfs*26) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Lys802MetfsTer11 (p.K802Mfs*11) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Phe1043_Asp1044delinsSerThrGly (p.F1043_D1044delinsSTG) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.His1051?fsTer6 (p.H1051?fs*6) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Ser1258ArgfsTer2 (p.S1258Rfs*2) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Lys1259LeufsTer29 (p.K1259Lfs*29) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Gln200Ter (p.Q200*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000687416.1, ENST00000687599.1, ENST00000687984.1, ENST00000688249.1, ENST00000688338.1, ENST00000689649.1, ENST00000689767.1, ENST00000689891.1, ENST00000691152.1, ENST00000692908.1, ENST00000693051.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Arg201Ter (p.R201*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000687416.1, ENST00000687599.1, ENST00000687984.1, ENST00000688249.1, ENST00000688338.1, ENST00000689649.1, ENST00000689767.1, ENST00000689891.1, ENST00000691152.1, ENST00000692908.1, ENST00000693051.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Glu336Ter (p.E336*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000687416.1, ENST00000687599.1, ENST00000687984.1, ENST00000688249.1, ENST00000688338.1, ENST00000689649.1, ENST00000689767.1, ENST00000689891.1, ENST00000691152.1, ENST00000692908.1, ENST00000693051.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Arg409Ter (p.R409*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000687416.1, ENST00000687599.1, ENST00000687984.1, ENST00000688249.1, ENST00000688338.1, ENST00000689649.1, ENST00000689767.1, ENST00000689891.1, ENST00000691152.1, ENST00000692908.1, ENST00000693051.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Ser487Ter (p.S487*) ( ENST00000343533.10, ENST00000341514.11, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000687416.1, ENST00000688249.1, ENST00000688338.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693051.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A c.1544-1G>A ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000687416.1, ENST00000688249.1, ENST00000688338.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693051.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Arg547Ter (p.R547*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000687416.1, ENST00000688249.1, ENST00000688338.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693051.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Tyr594Ter (p.Y594*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Glu611Ter (p.E611*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A c.1870-1G>C ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Leu625Ter (p.L625*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Ala629Pro (p.A629P) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Ser637Ter (p.S637*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Ser637Leu (p.S637L) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Arg645Ter (p.R645*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A c.1946+1G>C ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A c.1946+5G>A ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A c.1947-1G>A ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Trp650Ter (p.W650*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Gly666Arg (p.G666R) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Gly666Arg (p.G666R) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Cys720Ter (p.C720*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Gln724His (p.Q724H) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A c.2172+5G>C ( ENST00000343533.10, ENST00000341514.11, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A c.2173-2A>G ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Gly727Arg (p.G727R) ( ENST00000343533.10, ENST00000341514.11, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Gly727Ter (p.G727*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Gly728Asp (p.G728D) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Trp729Ter (p.W729*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Met786Arg (p.M786R) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Arg795Ter (p.R795*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A c.2498+2T>A ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A c.2499-1G>A ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Pro852Leu (p.P852L) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Val917Asp (p.V917D) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Lys927Asn (p.K927N) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Glu968Gly (p.E968G) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Arg980Ter (p.R980*) ( ENST00000343533.10, ENST00000341514.11, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Arg986Ter (p.R986*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Pro1001Leu (p.P1001L) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Gly1019Asp (p.G1019D) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A c.3112-1G>A ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Asp1044Glu (p.D1044E) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Tyr1095Ter (p.Y1095*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Cys1096Ter (p.C1096*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A c.3294+1G>T ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Gly1118Cys (p.G1118C) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Glu1127Ter (p.E1127*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Gln1156Ter (p.Q1156*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Gln1168Ter (p.Q1168*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Gly1255Glu (p.G1255E) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Gln1267Leu (p.Q1267L) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A c.3801+1G>T ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A c.3801+4A>G ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Asn1304Ser (p.N1304S) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Pro1307Arg (p.P1307R) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Gly1315Arg (p.G1315R) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A c.4005+1G>T ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Gly1375Arg (p.G1375R) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A c.4123+1G>A ( ENST00000343533.10, ENST00000341514.11, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Ser1396Leu (p.S1396L) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A c.4226+5G>A ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Gln200Ter (p.Q200*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000687416.1, ENST00000687599.1, ENST00000687984.1, ENST00000688249.1, ENST00000688338.1, ENST00000689649.1, ENST00000689767.1, ENST00000689891.1, ENST00000691152.1, ENST00000692908.1, ENST00000693051.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Arg201Ter (p.R201*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000687416.1, ENST00000687599.1, ENST00000687984.1, ENST00000688249.1, ENST00000688338.1, ENST00000689649.1, ENST00000689767.1, ENST00000689891.1, ENST00000691152.1, ENST00000692908.1, ENST00000693051.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Glu336Ter (p.E336*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000687416.1, ENST00000687599.1, ENST00000687984.1, ENST00000688249.1, ENST00000688338.1, ENST00000689649.1, ENST00000689767.1, ENST00000689891.1, ENST00000691152.1, ENST00000692908.1, ENST00000693051.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Arg409Ter (p.R409*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000687416.1, ENST00000687599.1, ENST00000687984.1, ENST00000688249.1, ENST00000688338.1, ENST00000689649.1, ENST00000689767.1, ENST00000689891.1, ENST00000691152.1, ENST00000692908.1, ENST00000693051.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Ser487Ter (p.S487*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000687416.1, ENST00000688249.1, ENST00000688338.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693051.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A c.1544-1G>A ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000687416.1, ENST00000688249.1, ENST00000688338.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693051.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Arg547Ter (p.R547*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000687416.1, ENST00000688249.1, ENST00000688338.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693051.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Tyr594Ter (p.Y594*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Glu611Ter (p.E611*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A c.1870-1G>C ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Leu625Ter (p.L625*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Ala629Pro (p.A629P) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Ser637Ter (p.S637*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Ser637Leu (p.S637L) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Arg645Ter (p.R645*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A c.1946+1G>C ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A c.1946+5G>A ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A c.1947-1G>A ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Trp650Ter (p.W650*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Gly666Arg (p.G666R) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Gly666Arg (p.G666R) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Cys720Ter (p.C720*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Gln724His (p.Q724H) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A c.2172+5G>C ( ENST00000685264.1, ENST00000341514.11, ENST00000343533.10, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A c.2173-2A>G ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Gly727Arg (p.G727R) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Gly727Ter (p.G727*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Gly728Asp (p.G728D) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Trp729Ter (p.W729*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Met786Arg (p.M786R) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Arg795Ter (p.R795*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A c.2498+2T>A ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A c.2499-1G>A ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Pro852Leu (p.P852L) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Val917Asp (p.V917D) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Lys927Asn (p.K927N) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Glu968Gly (p.E968G) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Arg980Ter (p.R980*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Arg986Ter (p.R986*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Pro1001Leu (p.P1001L) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Gly1019Asp (p.G1019D) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A c.3112-1G>A ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Asp1044Glu (p.D1044E) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Tyr1095Ter (p.Y1095*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Cys1096Ter (p.C1096*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A c.3294+1G>T ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Gly1118Cys (p.G1118C) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Glu1127Ter (p.E1127*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Gln1156Ter (p.Q1156*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Gln1168Ter (p.Q1168*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Gly1255Glu (p.G1255E) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Gln1267Leu (p.Q1267L) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A c.3801+1G>T ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A c.3801+4A>G ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Asn1304Ser (p.N1304S) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Pro1307Arg (p.P1307R) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Gly1315Arg (p.G1315R) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A c.4005+1G>T ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Gly1375Arg (p.G1375R) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A c.4123+1G>A ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Ser1396Leu (p.S1396L) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A c.4226+5G>A ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Leu342GlyfsTer29 (p.L342Gfs*29)
ATP7A p.Tyr670PhefsTer25 (p.Y670Ffs*25)
ATP7A p.Val751IlefsTer22 (p.V751Ifs*22)
ATP7A p.Glu835GlyfsTer17 (p.E835Gfs*17)
ATP7A p.Lys883Ter (p.K883*)
ATP7A p.Met1378AsnfsTer31 (p.M1378Nfs*31)
ATP7A p.Leu342GlyfsTer29 (p.L342Gfs*29)
ATP7A p.Tyr670PhefsTer25 (p.Y670Ffs*25)
ATP7A p.Val751IlefsTer22 (p.V751Ifs*22)
ATP7A p.Glu835GlyfsTer17 (p.E835Gfs*17)
ATP7A p.Lys883Ter (p.K883*)
ATP7A p.Met1378AsnfsTer31 (p.M1378Nfs*31) - Associated Disease
- Menkes Kinky Hair Syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.606244433470293
- Year of publication
- NA
Drugs