Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51941033A>GCA2623119734ATP7Bc.*1206+48T>C (n.*1206+48T>C)
c.*2300+48T>C (n.*2300+48T>C)
c.2935+48T>C (n.2935+48T>C)
c.3556+48T>C (n.3556+48T>C)
c.3223+48T>C (n.3223+48T>C)
c.3304+48T>C (n.3304+48T>C)
c.3322+48T>C (n.3322+48T>C)
n.3695+48T>C
n.3967T>C
c.2491+48T>C (n.2491+48T>C)
c.2266+48T>C (n.2266+48T>C)
c.3361+48T>C (n.3361+48T>C)
c.1334+48T>C
c.*657+48T>C (n.*657+48T>C)
n.4300+48T>C
n.2901+48T>C
c.3412+48T>C (n.3412+48T>C)
c.3460+48T>C (n.3460+48T>C)
c.3520+48T>C (n.3520+48T>C)
c.3070+48T>C (n.3070+48T>C)
c.1372+48T>C (n.1372+48T>C)
c.1189+48T>C (n.1189+48T>C)
c.3421+48T>C (n.3421+48T>C)
c.3373+48T>C (n.3373+48T>C)
c.3142+48T>C (n.3142+48T>C)
c.3043+48T>C (n.3043+48T>C)
c.2224+48T>C (n.2224+48T>C)
n.3775+48T>C
 gnomAD v4
13g.51941037C>ACA2575420553ATP7Bc.*1206+44G>T (n.*1206+44G>T)
c.*2300+44G>T (n.*2300+44G>T)
c.2935+44G>T (n.2935+44G>T)
c.3556+44G>T (n.3556+44G>T)
c.3223+44G>T (n.3223+44G>T)
c.3304+44G>T (n.3304+44G>T)
c.3322+44G>T (n.3322+44G>T)
n.3695+44G>T
n.3963G>T
c.2491+44G>T (n.2491+44G>T)
c.2266+44G>T (n.2266+44G>T)
c.3361+44G>T (n.3361+44G>T)
c.1334+44G>T
c.*657+44G>T (n.*657+44G>T)
n.4300+44G>T
n.2901+44G>T
c.3412+44G>T (n.3412+44G>T)
c.3460+44G>T (n.3460+44G>T)
c.3520+44G>T (n.3520+44G>T)
c.3070+44G>T (n.3070+44G>T)
c.1372+44G>T (n.1372+44G>T)
c.1189+44G>T (n.1189+44G>T)
c.3421+44G>T (n.3421+44G>T)
c.3373+44G>T (n.3373+44G>T)
c.3142+44G>T (n.3142+44G>T)
c.3043+44G>T (n.3043+44G>T)
c.2224+44G>T (n.2224+44G>T)
n.3775+44G>T
 gnomAD v4
13g.51941037C>TCA2623119735ATP7Bc.*1206+44G>A (n.*1206+44G>A)
c.*2300+44G>A (n.*2300+44G>A)
c.2935+44G>A (n.2935+44G>A)
c.3556+44G>A (n.3556+44G>A)
c.3223+44G>A (n.3223+44G>A)
c.3304+44G>A (n.3304+44G>A)
c.3322+44G>A (n.3322+44G>A)
n.3695+44G>A
n.3963G>A
c.2491+44G>A (n.2491+44G>A)
c.2266+44G>A (n.2266+44G>A)
c.3361+44G>A (n.3361+44G>A)
c.1334+44G>A
c.*657+44G>A (n.*657+44G>A)
n.4300+44G>A
n.2901+44G>A
c.3412+44G>A (n.3412+44G>A)
c.3460+44G>A (n.3460+44G>A)
c.3520+44G>A (n.3520+44G>A)
c.3070+44G>A (n.3070+44G>A)
c.1372+44G>A (n.1372+44G>A)
c.1189+44G>A (n.1189+44G>A)
c.3421+44G>A (n.3421+44G>A)
c.3373+44G>A (n.3373+44G>A)
c.3142+44G>A (n.3142+44G>A)
c.3043+44G>A (n.3043+44G>A)
c.2224+44G>A (n.2224+44G>A)
n.3775+44G>A
 gnomAD v4
13g.51941037_51941039delinsCTGCA2091559180ATP7Bc.*1206+42_*1206+44delinsCAG (n.*1206+42_*1206+44delinsCAG)
c.*2300+42_*2300+44delinsCAG (n.*2300+42_*2300+44delinsCAG)
c.2935+42_2935+44delinsCAG (n.2935+42_2935+44delinsCAG)
c.3556+42_3556+44delinsCAG (n.3556+42_3556+44delinsCAG)
c.3223+42_3223+44delinsCAG (n.3223+42_3223+44delinsCAG)
c.3304+42_3304+44delinsCAG (n.3304+42_3304+44delinsCAG)
c.3322+42_3322+44delinsCAG (n.3322+42_3322+44delinsCAG)
n.3695+42_3695+44delinsCAG
n.3961_3963delinsCAG
c.2491+42_2491+44delinsCAG (n.2491+42_2491+44delinsCAG)
c.2266+42_2266+44delinsCAG (n.2266+42_2266+44delinsCAG)
c.3361+42_3361+44delinsCAG (n.3361+42_3361+44delinsCAG)
c.1334+42_1334+44delinsCAG
c.*657+42_*657+44delinsCAG (n.*657+42_*657+44delinsCAG)
n.4300+42_4300+44delinsCAG
n.2901+42_2901+44delinsCAG
c.3412+42_3412+44delinsCAG (n.3412+42_3412+44delinsCAG)
c.3460+42_3460+44delinsCAG (n.3460+42_3460+44delinsCAG)
c.3520+42_3520+44delinsCAG (n.3520+42_3520+44delinsCAG)
c.3070+42_3070+44delinsCAG (n.3070+42_3070+44delinsCAG)
c.1372+42_1372+44delinsCAG (n.1372+42_1372+44delinsCAG)
c.1189+42_1189+44delinsCAG (n.1189+42_1189+44delinsCAG)
c.3421+42_3421+44delinsCAG (n.3421+42_3421+44delinsCAG)
c.3373+42_3373+44delinsCAG (n.3373+42_3373+44delinsCAG)
c.3142+42_3142+44delinsCAG (n.3142+42_3142+44delinsCAG)
c.3043+42_3043+44delinsCAG (n.3043+42_3043+44delinsCAG)
c.2224+42_2224+44delinsCAG (n.2224+42_2224+44delinsCAG)
n.3775+42_3775+44delinsCAG
13g.51941038T>CCA6988651ATP7Bc.*1206+43A>G (n.*1206+43A>G)
c.*2300+43A>G (n.*2300+43A>G)
c.2935+43A>G (n.2935+43A>G)
c.3556+43A>G (n.3556+43A>G)
c.3223+43A>G (n.3223+43A>G)
c.3304+43A>G (n.3304+43A>G)
c.3322+43A>G (n.3322+43A>G)
n.3695+43A>G
n.3962A>G
c.2491+43A>G (n.2491+43A>G)
c.2266+43A>G (n.2266+43A>G)
c.3361+43A>G (n.3361+43A>G)
c.1334+43A>G
c.*657+43A>G (n.*657+43A>G)
n.4300+43A>G
n.2901+43A>G
c.3412+43A>G (n.3412+43A>G)
c.3460+43A>G (n.3460+43A>G)
c.3520+43A>G (n.3520+43A>G)
c.3070+43A>G (n.3070+43A>G)
c.1372+43A>G (n.1372+43A>G)
c.1189+43A>G (n.1189+43A>G)
c.3421+43A>G (n.3421+43A>G)
c.3373+43A>G (n.3373+43A>G)
c.3142+43A>G (n.3142+43A>G)
c.3043+43A>G (n.3043+43A>G)
c.2224+43A>G (n.2224+43A>G)
n.3775+43A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51941038T=CA2091559186ATP7Bc.*1206+43A= (n.*1206+43A=)
c.*2300+43A= (n.*2300+43A=)
c.2935+43A= (n.2935+43A=)
c.3556+43A= (n.3556+43A=)
c.3223+43A= (n.3223+43A=)
c.3304+43A= (n.3304+43A=)
c.3322+43A= (n.3322+43A=)
n.3695+43A=
n.3962A=
c.2491+43A= (n.2491+43A=)
c.2266+43A= (n.2266+43A=)
c.3361+43A= (n.3361+43A=)
c.1334+43A=
c.*657+43A= (n.*657+43A=)
n.4300+43A=
n.2901+43A=
c.3412+43A= (n.3412+43A=)
c.3460+43A= (n.3460+43A=)
c.3520+43A= (n.3520+43A=)
c.3070+43A= (n.3070+43A=)
c.1372+43A= (n.1372+43A=)
c.1189+43A= (n.1189+43A=)
c.3421+43A= (n.3421+43A=)
c.3373+43A= (n.3373+43A=)
c.3142+43A= (n.3142+43A=)
c.3043+43A= (n.3043+43A=)
c.2224+43A= (n.2224+43A=)
n.3775+43A=
13g.51941039_51941040delCA2091559182ATP7Bc.*1206+42_*1206+43del (n.*1206+42_*1206+43del)
c.*2300+42_*2300+43del (n.*2300+42_*2300+43del)
c.2935+42_2935+43del (n.2935+42_2935+43del)
c.3556+42_3556+43del (n.3556+42_3556+43del)
c.3223+42_3223+43del (n.3223+42_3223+43del)
c.3304+42_3304+43del (n.3304+42_3304+43del)
c.3322+42_3322+43del (n.3322+42_3322+43del)
n.3695+42_3695+43del
n.3961_3962del
c.2491+42_2491+43del (n.2491+42_2491+43del)
c.2266+42_2266+43del (n.2266+42_2266+43del)
c.3361+42_3361+43del (n.3361+42_3361+43del)
c.1334+42_1334+43del
c.*657+42_*657+43del (n.*657+42_*657+43del)
n.4300+42_4300+43del
n.2901+42_2901+43del
c.3412+42_3412+43del (n.3412+42_3412+43del)
c.3460+42_3460+43del (n.3460+42_3460+43del)
c.3520+42_3520+43del (n.3520+42_3520+43del)
c.3070+42_3070+43del (n.3070+42_3070+43del)
c.1372+42_1372+43del (n.1372+42_1372+43del)
c.1189+42_1189+43del (n.1189+42_1189+43del)
c.3421+42_3421+43del (n.3421+42_3421+43del)
c.3373+42_3373+43del (n.3373+42_3373+43del)
c.3142+42_3142+43del (n.3142+42_3142+43del)
c.3043+42_3043+43del (n.3043+42_3043+43del)
c.2224+42_2224+43del (n.2224+42_2224+43del)
n.3775+42_3775+43del
 dbSNP gnomAD v4
13g.51941039G>CCA2799207340ATP7Bc.*1206+42C>G (n.*1206+42C>G)
c.*2300+42C>G (n.*2300+42C>G)
c.2935+42C>G (n.2935+42C>G)
c.3556+42C>G (n.3556+42C>G)
c.3223+42C>G (n.3223+42C>G)
c.3304+42C>G (n.3304+42C>G)
c.3322+42C>G (n.3322+42C>G)
n.3695+42C>G
n.3961C>G
c.2491+42C>G (n.2491+42C>G)
c.2266+42C>G (n.2266+42C>G)
c.3361+42C>G (n.3361+42C>G)
c.1334+42C>G
c.*657+42C>G (n.*657+42C>G)
n.4300+42C>G
n.2901+42C>G
c.3412+42C>G (n.3412+42C>G)
c.3460+42C>G (n.3460+42C>G)
c.3520+42C>G (n.3520+42C>G)
c.3070+42C>G (n.3070+42C>G)
c.1372+42C>G (n.1372+42C>G)
c.1189+42C>G (n.1189+42C>G)
c.3421+42C>G (n.3421+42C>G)
c.3373+42C>G (n.3373+42C>G)
c.3142+42C>G (n.3142+42C>G)
c.3043+42C>G (n.3043+42C>G)
c.2224+42C>G (n.2224+42C>G)
n.3775+42C>G
13g.51941039G=CA2091559188ATP7Bc.*1206+42C= (n.*1206+42C=)
c.*2300+42C= (n.*2300+42C=)
c.2935+42C= (n.2935+42C=)
c.3556+42C= (n.3556+42C=)
c.3223+42C= (n.3223+42C=)
c.3304+42C= (n.3304+42C=)
c.3322+42C= (n.3322+42C=)
n.3695+42C=
n.3961C=
c.2491+42C= (n.2491+42C=)
c.2266+42C= (n.2266+42C=)
c.3361+42C= (n.3361+42C=)
c.1334+42C=
c.*657+42C= (n.*657+42C=)
n.4300+42C=
n.2901+42C=
c.3412+42C= (n.3412+42C=)
c.3460+42C= (n.3460+42C=)
c.3520+42C= (n.3520+42C=)
c.3070+42C= (n.3070+42C=)
c.1372+42C= (n.1372+42C=)
c.1189+42C= (n.1189+42C=)
c.3421+42C= (n.3421+42C=)
c.3373+42C= (n.3373+42C=)
c.3142+42C= (n.3142+42C=)
c.3043+42C= (n.3043+42C=)
c.2224+42C= (n.2224+42C=)
n.3775+42C=
13g.51941039G>TCA6988652ATP7Bc.*1206+42C>A (n.*1206+42C>A)
c.*2300+42C>A (n.*2300+42C>A)
c.2935+42C>A (n.2935+42C>A)
c.3556+42C>A (n.3556+42C>A)
c.3223+42C>A (n.3223+42C>A)
c.3304+42C>A (n.3304+42C>A)
c.3322+42C>A (n.3322+42C>A)
n.3695+42C>A
n.3961C>A
c.2491+42C>A (n.2491+42C>A)
c.2266+42C>A (n.2266+42C>A)
c.3361+42C>A (n.3361+42C>A)
c.1334+42C>A
c.*657+42C>A (n.*657+42C>A)
n.4300+42C>A
n.2901+42C>A
c.3412+42C>A (n.3412+42C>A)
c.3460+42C>A (n.3460+42C>A)
c.3520+42C>A (n.3520+42C>A)
c.3070+42C>A (n.3070+42C>A)
c.1372+42C>A (n.1372+42C>A)
c.1189+42C>A (n.1189+42C>A)
c.3421+42C>A (n.3421+42C>A)
c.3373+42C>A (n.3373+42C>A)
c.3142+42C>A (n.3142+42C>A)
c.3043+42C>A (n.3043+42C>A)
c.2224+42C>A (n.2224+42C>A)
n.3775+42C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51941040T>CCA2623119736ATP7Bc.*1206+41A>G (n.*1206+41A>G)
c.*2300+41A>G (n.*2300+41A>G)
c.2935+41A>G (n.2935+41A>G)
c.3556+41A>G (n.3556+41A>G)
c.3223+41A>G (n.3223+41A>G)
c.3304+41A>G (n.3304+41A>G)
c.3322+41A>G (n.3322+41A>G)
n.3695+41A>G
n.3960A>G
c.2491+41A>G (n.2491+41A>G)
c.2266+41A>G (n.2266+41A>G)
c.3361+41A>G (n.3361+41A>G)
c.1334+41A>G
c.*657+41A>G (n.*657+41A>G)
n.4300+41A>G
n.2901+41A>G
c.3412+41A>G (n.3412+41A>G)
c.3460+41A>G (n.3460+41A>G)
c.3520+41A>G (n.3520+41A>G)
c.3070+41A>G (n.3070+41A>G)
c.1372+41A>G (n.1372+41A>G)
c.1189+41A>G (n.1189+41A>G)
c.3421+41A>G (n.3421+41A>G)
c.3373+41A>G (n.3373+41A>G)
c.3142+41A>G (n.3142+41A>G)
c.3043+41A>G (n.3043+41A>G)
c.2224+41A>G (n.2224+41A>G)
n.3775+41A>G
 gnomAD v4
13g.51941042T>ACA250076999ATP7Bc.*1206+39A>T (n.*1206+39A>T)
c.*2300+39A>T (n.*2300+39A>T)
c.2935+39A>T (n.2935+39A>T)
c.3556+39A>T (n.3556+39A>T)
c.3223+39A>T (n.3223+39A>T)
c.3304+39A>T (n.3304+39A>T)
c.3322+39A>T (n.3322+39A>T)
n.3695+39A>T
n.3958A>T
c.2491+39A>T (n.2491+39A>T)
c.2266+39A>T (n.2266+39A>T)
c.3361+39A>T (n.3361+39A>T)
c.1334+39A>T
c.*657+39A>T (n.*657+39A>T)
n.4300+39A>T
n.2901+39A>T
c.3412+39A>T (n.3412+39A>T)
c.3460+39A>T (n.3460+39A>T)
c.3520+39A>T (n.3520+39A>T)
c.3070+39A>T (n.3070+39A>T)
c.1372+39A>T (n.1372+39A>T)
c.1189+39A>T (n.1189+39A>T)
c.3421+39A>T (n.3421+39A>T)
c.3373+39A>T (n.3373+39A>T)
c.3142+39A>T (n.3142+39A>T)
c.3043+39A>T (n.3043+39A>T)
c.2224+39A>T (n.2224+39A>T)
n.3775+39A>T
 dbSNP gnomAD v4
13g.51941042T=CA2091559191ATP7Bc.*1206+39A= (n.*1206+39A=)
c.*2300+39A= (n.*2300+39A=)
c.2935+39A= (n.2935+39A=)
c.3556+39A= (n.3556+39A=)
c.3223+39A= (n.3223+39A=)
c.3304+39A= (n.3304+39A=)
c.3322+39A= (n.3322+39A=)
n.3695+39A=
n.3958A=
c.2491+39A= (n.2491+39A=)
c.2266+39A= (n.2266+39A=)
c.3361+39A= (n.3361+39A=)
c.1334+39A=
c.*657+39A= (n.*657+39A=)
n.4300+39A=
n.2901+39A=
c.3412+39A= (n.3412+39A=)
c.3460+39A= (n.3460+39A=)
c.3520+39A= (n.3520+39A=)
c.3070+39A= (n.3070+39A=)
c.1372+39A= (n.1372+39A=)
c.1189+39A= (n.1189+39A=)
c.3421+39A= (n.3421+39A=)
c.3373+39A= (n.3373+39A=)
c.3142+39A= (n.3142+39A=)
c.3043+39A= (n.3043+39A=)
c.2224+39A= (n.2224+39A=)
n.3775+39A=
13g.51941045C=CA2091559193ATP7Bc.*1206+36G= (n.*1206+36G=)
c.*2300+36G= (n.*2300+36G=)
c.2935+36G= (n.2935+36G=)
c.3556+36G= (n.3556+36G=)
c.3223+36G= (n.3223+36G=)
c.3304+36G= (n.3304+36G=)
c.3322+36G= (n.3322+36G=)
n.3695+36G=
n.3955G=
c.2491+36G= (n.2491+36G=)
c.2266+36G= (n.2266+36G=)
c.3361+36G= (n.3361+36G=)
c.1334+36G=
c.*657+36G= (n.*657+36G=)
n.4300+36G=
n.2901+36G=
c.3412+36G= (n.3412+36G=)
c.3460+36G= (n.3460+36G=)
c.3520+36G= (n.3520+36G=)
c.3070+36G= (n.3070+36G=)
c.1372+36G= (n.1372+36G=)
c.1189+36G= (n.1189+36G=)
c.3421+36G= (n.3421+36G=)
c.3373+36G= (n.3373+36G=)
c.3142+36G= (n.3142+36G=)
c.3043+36G= (n.3043+36G=)
c.2224+36G= (n.2224+36G=)
n.3775+36G=
13g.51941045C>GCA698882858ATP7Bc.*1206+36G>C (n.*1206+36G>C)
c.*2300+36G>C (n.*2300+36G>C)
c.2935+36G>C (n.2935+36G>C)
c.3556+36G>C (n.3556+36G>C)
c.3223+36G>C (n.3223+36G>C)
c.3304+36G>C (n.3304+36G>C)
c.3322+36G>C (n.3322+36G>C)
n.3695+36G>C
n.3955G>C
c.2491+36G>C (n.2491+36G>C)
c.2266+36G>C (n.2266+36G>C)
c.3361+36G>C (n.3361+36G>C)
c.1334+36G>C
c.*657+36G>C (n.*657+36G>C)
n.4300+36G>C
n.2901+36G>C
c.3412+36G>C (n.3412+36G>C)
c.3460+36G>C (n.3460+36G>C)
c.3520+36G>C (n.3520+36G>C)
c.3070+36G>C (n.3070+36G>C)
c.1372+36G>C (n.1372+36G>C)
c.1189+36G>C (n.1189+36G>C)
c.3421+36G>C (n.3421+36G>C)
c.3373+36G>C (n.3373+36G>C)
c.3142+36G>C (n.3142+36G>C)
c.3043+36G>C (n.3043+36G>C)
c.2224+36G>C (n.2224+36G>C)
n.3775+36G>C
 dbSNP gnomAD v4
13g.51941046_51941048delinsTGACA2091559195ATP7Bc.*1206+33_*1206+35delinsTCA (n.*1206+33_*1206+35delinsTCA)
c.*2300+33_*2300+35delinsTCA (n.*2300+33_*2300+35delinsTCA)
c.2935+33_2935+35delinsTCA (n.2935+33_2935+35delinsTCA)
c.3556+33_3556+35delinsTCA (n.3556+33_3556+35delinsTCA)
c.3223+33_3223+35delinsTCA (n.3223+33_3223+35delinsTCA)
c.3304+33_3304+35delinsTCA (n.3304+33_3304+35delinsTCA)
c.3322+33_3322+35delinsTCA (n.3322+33_3322+35delinsTCA)
n.3695+33_3695+35delinsTCA
n.3952_3954delinsTCA
c.2491+33_2491+35delinsTCA (n.2491+33_2491+35delinsTCA)
c.2266+33_2266+35delinsTCA (n.2266+33_2266+35delinsTCA)
c.3361+33_3361+35delinsTCA (n.3361+33_3361+35delinsTCA)
c.1334+33_1334+35delinsTCA
c.*657+33_*657+35delinsTCA (n.*657+33_*657+35delinsTCA)
n.4300+33_4300+35delinsTCA
n.2901+33_2901+35delinsTCA
c.3412+33_3412+35delinsTCA (n.3412+33_3412+35delinsTCA)
c.3460+33_3460+35delinsTCA (n.3460+33_3460+35delinsTCA)
c.3520+33_3520+35delinsTCA (n.3520+33_3520+35delinsTCA)
c.3070+33_3070+35delinsTCA (n.3070+33_3070+35delinsTCA)
c.1372+33_1372+35delinsTCA (n.1372+33_1372+35delinsTCA)
c.1189+33_1189+35delinsTCA (n.1189+33_1189+35delinsTCA)
c.3421+33_3421+35delinsTCA (n.3421+33_3421+35delinsTCA)
c.3373+33_3373+35delinsTCA (n.3373+33_3373+35delinsTCA)
c.3142+33_3142+35delinsTCA (n.3142+33_3142+35delinsTCA)
c.3043+33_3043+35delinsTCA (n.3043+33_3043+35delinsTCA)
c.2224+33_2224+35delinsTCA (n.2224+33_2224+35delinsTCA)
n.3775+33_3775+35delinsTCA
13g.51941047G>CCA609963656ATP7Bc.*1206+34C>G (n.*1206+34C>G)
c.*2300+34C>G (n.*2300+34C>G)
c.2935+34C>G (n.2935+34C>G)
c.3556+34C>G (n.3556+34C>G)
c.3223+34C>G (n.3223+34C>G)
c.3304+34C>G (n.3304+34C>G)
c.3322+34C>G (n.3322+34C>G)
n.3695+34C>G
n.3953C>G
c.2491+34C>G (n.2491+34C>G)
c.2266+34C>G (n.2266+34C>G)
c.3361+34C>G (n.3361+34C>G)
c.1334+34C>G
c.*657+34C>G (n.*657+34C>G)
n.4300+34C>G
n.2901+34C>G
c.3412+34C>G (n.3412+34C>G)
c.3460+34C>G (n.3460+34C>G)
c.3520+34C>G (n.3520+34C>G)
c.3070+34C>G (n.3070+34C>G)
c.1372+34C>G (n.1372+34C>G)
c.1189+34C>G (n.1189+34C>G)
c.3421+34C>G (n.3421+34C>G)
c.3373+34C>G (n.3373+34C>G)
c.3142+34C>G (n.3142+34C>G)
c.3043+34C>G (n.3043+34C>G)
c.2224+34C>G (n.2224+34C>G)
n.3775+34C>G
 dbSNP gnomAD v2 gnomAD v4
13g.51941047G=CA2091559201ATP7Bc.*1206+34C= (n.*1206+34C=)
c.*2300+34C= (n.*2300+34C=)
c.2935+34C= (n.2935+34C=)
c.3556+34C= (n.3556+34C=)
c.3223+34C= (n.3223+34C=)
c.3304+34C= (n.3304+34C=)
c.3322+34C= (n.3322+34C=)
n.3695+34C=
n.3953C=
c.2491+34C= (n.2491+34C=)
c.2266+34C= (n.2266+34C=)
c.3361+34C= (n.3361+34C=)
c.1334+34C=
c.*657+34C= (n.*657+34C=)
n.4300+34C=
n.2901+34C=
c.3412+34C= (n.3412+34C=)
c.3460+34C= (n.3460+34C=)
c.3520+34C= (n.3520+34C=)
c.3070+34C= (n.3070+34C=)
c.1372+34C= (n.1372+34C=)
c.1189+34C= (n.1189+34C=)
c.3421+34C= (n.3421+34C=)
c.3373+34C= (n.3373+34C=)
c.3142+34C= (n.3142+34C=)
c.3043+34C= (n.3043+34C=)
c.2224+34C= (n.2224+34C=)
n.3775+34C=
13g.51941052_51941053delCA6988653ATP7Bc.*1206+33_*1206+34del (n.*1206+33_*1206+34del)
c.*2300+33_*2300+34del (n.*2300+33_*2300+34del)
c.2935+33_2935+34del (n.2935+33_2935+34del)
c.3556+33_3556+34del (n.3556+33_3556+34del)
c.3223+33_3223+34del (n.3223+33_3223+34del)
c.3304+33_3304+34del (n.3304+33_3304+34del)
c.3322+33_3322+34del (n.3322+33_3322+34del)
n.3695+33_3695+34del
n.3952_3953del
c.2491+33_2491+34del (n.2491+33_2491+34del)
c.2266+33_2266+34del (n.2266+33_2266+34del)
c.3361+33_3361+34del (n.3361+33_3361+34del)
c.1334+33_1334+34del
c.*657+33_*657+34del (n.*657+33_*657+34del)
n.4300+33_4300+34del
n.2901+33_2901+34del
c.3412+33_3412+34del (n.3412+33_3412+34del)
c.3460+33_3460+34del (n.3460+33_3460+34del)
c.3520+33_3520+34del (n.3520+33_3520+34del)
c.3070+33_3070+34del (n.3070+33_3070+34del)
c.1372+33_1372+34del (n.1372+33_1372+34del)
c.1189+33_1189+34del (n.1189+33_1189+34del)
c.3421+33_3421+34del (n.3421+33_3421+34del)
c.3373+33_3373+34del (n.3373+33_3373+34del)
c.3142+33_3142+34del (n.3142+33_3142+34del)
c.3043+33_3043+34del (n.3043+33_3043+34del)
c.2224+33_2224+34del (n.2224+33_2224+34del)
n.3775+33_3775+34del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941048A>CCA2623119737ATP7Bc.*1206+33T>G (n.*1206+33T>G)
c.*2300+33T>G (n.*2300+33T>G)
c.2935+33T>G (n.2935+33T>G)
c.3556+33T>G (n.3556+33T>G)
c.3223+33T>G (n.3223+33T>G)
c.3304+33T>G (n.3304+33T>G)
c.3322+33T>G (n.3322+33T>G)
n.3695+33T>G
n.3952T>G
c.2491+33T>G (n.2491+33T>G)
c.2266+33T>G (n.2266+33T>G)
c.3361+33T>G (n.3361+33T>G)
c.1334+33T>G
c.*657+33T>G (n.*657+33T>G)
n.4300+33T>G
n.2901+33T>G
c.3412+33T>G (n.3412+33T>G)
c.3460+33T>G (n.3460+33T>G)
c.3520+33T>G (n.3520+33T>G)
c.3070+33T>G (n.3070+33T>G)
c.1372+33T>G (n.1372+33T>G)
c.1189+33T>G (n.1189+33T>G)
c.3421+33T>G (n.3421+33T>G)
c.3373+33T>G (n.3373+33T>G)
c.3142+33T>G (n.3142+33T>G)
c.3043+33T>G (n.3043+33T>G)
c.2224+33T>G (n.2224+33T>G)
n.3775+33T>G
 gnomAD v4
13g.51941049G>CCA698882863ATP7Bc.*1206+32C>G (n.*1206+32C>G)
c.*2300+32C>G (n.*2300+32C>G)
c.2935+32C>G (n.2935+32C>G)
c.3556+32C>G (n.3556+32C>G)
c.3223+32C>G (n.3223+32C>G)
c.3304+32C>G (n.3304+32C>G)
c.3322+32C>G (n.3322+32C>G)
n.3695+32C>G
n.3951C>G
c.2491+32C>G (n.2491+32C>G)
c.2266+32C>G (n.2266+32C>G)
c.3361+32C>G (n.3361+32C>G)
c.1334+32C>G
c.*657+32C>G (n.*657+32C>G)
n.4300+32C>G
n.2901+32C>G
c.3412+32C>G (n.3412+32C>G)
c.3460+32C>G (n.3460+32C>G)
c.3520+32C>G (n.3520+32C>G)
c.3070+32C>G (n.3070+32C>G)
c.1372+32C>G (n.1372+32C>G)
c.1189+32C>G (n.1189+32C>G)
c.3421+32C>G (n.3421+32C>G)
c.3373+32C>G (n.3373+32C>G)
c.3142+32C>G (n.3142+32C>G)
c.3043+32C>G (n.3043+32C>G)
c.2224+32C>G (n.2224+32C>G)
n.3775+32C>G
 dbSNP gnomAD v4
13g.51941049G=CA2091559205ATP7Bc.*1206+32C= (n.*1206+32C=)
c.*2300+32C= (n.*2300+32C=)
c.2935+32C= (n.2935+32C=)
c.3556+32C= (n.3556+32C=)
c.3223+32C= (n.3223+32C=)
c.3304+32C= (n.3304+32C=)
c.3322+32C= (n.3322+32C=)
n.3695+32C=
n.3951C=
c.2491+32C= (n.2491+32C=)
c.2266+32C= (n.2266+32C=)
c.3361+32C= (n.3361+32C=)
c.1334+32C=
c.*657+32C= (n.*657+32C=)
n.4300+32C=
n.2901+32C=
c.3412+32C= (n.3412+32C=)
c.3460+32C= (n.3460+32C=)
c.3520+32C= (n.3520+32C=)
c.3070+32C= (n.3070+32C=)
c.1372+32C= (n.1372+32C=)
c.1189+32C= (n.1189+32C=)
c.3421+32C= (n.3421+32C=)
c.3373+32C= (n.3373+32C=)
c.3142+32C= (n.3142+32C=)
c.3043+32C= (n.3043+32C=)
c.2224+32C= (n.2224+32C=)
n.3775+32C=
13g.51941051G>ACA250077001ATP7Bc.*1206+30C>T (n.*1206+30C>T)
c.*2300+30C>T (n.*2300+30C>T)
c.2935+30C>T (n.2935+30C>T)
c.3556+30C>T (n.3556+30C>T)
c.3223+30C>T (n.3223+30C>T)
c.3304+30C>T (n.3304+30C>T)
c.3322+30C>T (n.3322+30C>T)
n.3695+30C>T
n.3949C>T
c.2491+30C>T (n.2491+30C>T)
c.2266+30C>T (n.2266+30C>T)
c.3361+30C>T (n.3361+30C>T)
c.1334+30C>T
c.*657+30C>T (n.*657+30C>T)
n.4300+30C>T
n.2901+30C>T
c.3412+30C>T (n.3412+30C>T)
c.3460+30C>T (n.3460+30C>T)
c.3520+30C>T (n.3520+30C>T)
c.3070+30C>T (n.3070+30C>T)
c.1372+30C>T (n.1372+30C>T)
c.1189+30C>T (n.1189+30C>T)
c.3421+30C>T (n.3421+30C>T)
c.3373+30C>T (n.3373+30C>T)
c.3142+30C>T (n.3142+30C>T)
c.3043+30C>T (n.3043+30C>T)
c.2224+30C>T (n.2224+30C>T)
n.3775+30C>T
 dbSNP
13g.51941051G>CCA6988654ATP7Bc.*1206+30C>G (n.*1206+30C>G)
c.*2300+30C>G (n.*2300+30C>G)
c.2935+30C>G (n.2935+30C>G)
c.3556+30C>G (n.3556+30C>G)
c.3223+30C>G (n.3223+30C>G)
c.3304+30C>G (n.3304+30C>G)
c.3322+30C>G (n.3322+30C>G)
n.3695+30C>G
n.3949C>G
c.2491+30C>G (n.2491+30C>G)
c.2266+30C>G (n.2266+30C>G)
c.3361+30C>G (n.3361+30C>G)
c.1334+30C>G
c.*657+30C>G (n.*657+30C>G)
n.4300+30C>G
n.2901+30C>G
c.3412+30C>G (n.3412+30C>G)
c.3460+30C>G (n.3460+30C>G)
c.3520+30C>G (n.3520+30C>G)
c.3070+30C>G (n.3070+30C>G)
c.1372+30C>G (n.1372+30C>G)
c.1189+30C>G (n.1189+30C>G)
c.3421+30C>G (n.3421+30C>G)
c.3373+30C>G (n.3373+30C>G)
c.3142+30C>G (n.3142+30C>G)
c.3043+30C>G (n.3043+30C>G)
c.2224+30C>G (n.2224+30C>G)
n.3775+30C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941051G=CA2091559211ATP7Bc.*1206+30C= (n.*1206+30C=)
c.*2300+30C= (n.*2300+30C=)
c.2935+30C= (n.2935+30C=)
c.3556+30C= (n.3556+30C=)
c.3223+30C= (n.3223+30C=)
c.3304+30C= (n.3304+30C=)
c.3322+30C= (n.3322+30C=)
n.3695+30C=
n.3949C=
c.2491+30C= (n.2491+30C=)
c.2266+30C= (n.2266+30C=)
c.3361+30C= (n.3361+30C=)
c.1334+30C=
c.*657+30C= (n.*657+30C=)
n.4300+30C=
n.2901+30C=
c.3412+30C= (n.3412+30C=)
c.3460+30C= (n.3460+30C=)
c.3520+30C= (n.3520+30C=)
c.3070+30C= (n.3070+30C=)
c.1372+30C= (n.1372+30C=)
c.1189+30C= (n.1189+30C=)
c.3421+30C= (n.3421+30C=)
c.3373+30C= (n.3373+30C=)
c.3142+30C= (n.3142+30C=)
c.3043+30C= (n.3043+30C=)
c.2224+30C= (n.2224+30C=)
n.3775+30C=
13g.51941051G>TCA2623119738ATP7Bc.*1206+30C>A (n.*1206+30C>A)
c.*2300+30C>A (n.*2300+30C>A)
c.2935+30C>A (n.2935+30C>A)
c.3556+30C>A (n.3556+30C>A)
c.3223+30C>A (n.3223+30C>A)
c.3304+30C>A (n.3304+30C>A)
c.3322+30C>A (n.3322+30C>A)
n.3695+30C>A
n.3949C>A
c.2491+30C>A (n.2491+30C>A)
c.2266+30C>A (n.2266+30C>A)
c.3361+30C>A (n.3361+30C>A)
c.1334+30C>A
c.*657+30C>A (n.*657+30C>A)
n.4300+30C>A
n.2901+30C>A
c.3412+30C>A (n.3412+30C>A)
c.3460+30C>A (n.3460+30C>A)
c.3520+30C>A (n.3520+30C>A)
c.3070+30C>A (n.3070+30C>A)
c.1372+30C>A (n.1372+30C>A)
c.1189+30C>A (n.1189+30C>A)
c.3421+30C>A (n.3421+30C>A)
c.3373+30C>A (n.3373+30C>A)
c.3142+30C>A (n.3142+30C>A)
c.3043+30C>A (n.3043+30C>A)
c.2224+30C>A (n.2224+30C>A)
n.3775+30C>A
 gnomAD v4
13g.51941052A>CCA2623119739ATP7Bc.*1206+29T>G (n.*1206+29T>G)
c.*2300+29T>G (n.*2300+29T>G)
c.2935+29T>G (n.2935+29T>G)
c.3556+29T>G (n.3556+29T>G)
c.3223+29T>G (n.3223+29T>G)
c.3304+29T>G (n.3304+29T>G)
c.3322+29T>G (n.3322+29T>G)
n.3695+29T>G
n.3948T>G
c.2491+29T>G (n.2491+29T>G)
c.2266+29T>G (n.2266+29T>G)
c.3361+29T>G (n.3361+29T>G)
c.1334+29T>G
c.*657+29T>G (n.*657+29T>G)
n.4300+29T>G
n.2901+29T>G
c.3412+29T>G (n.3412+29T>G)
c.3460+29T>G (n.3460+29T>G)
c.3520+29T>G (n.3520+29T>G)
c.3070+29T>G (n.3070+29T>G)
c.1372+29T>G (n.1372+29T>G)
c.1189+29T>G (n.1189+29T>G)
c.3421+29T>G (n.3421+29T>G)
c.3373+29T>G (n.3373+29T>G)
c.3142+29T>G (n.3142+29T>G)
c.3043+29T>G (n.3043+29T>G)
c.2224+29T>G (n.2224+29T>G)
n.3775+29T>G
 gnomAD v4
13g.51941053G>ACA609963659ATP7Bc.*1206+28C>T (n.*1206+28C>T)
c.*2300+28C>T (n.*2300+28C>T)
c.2935+28C>T (n.2935+28C>T)
c.3556+28C>T (n.3556+28C>T)
c.3223+28C>T (n.3223+28C>T)
c.3304+28C>T (n.3304+28C>T)
c.3322+28C>T (n.3322+28C>T)
n.3695+28C>T
n.3947C>T
c.2491+28C>T (n.2491+28C>T)
c.2266+28C>T (n.2266+28C>T)
c.3361+28C>T (n.3361+28C>T)
c.1334+28C>T
c.*657+28C>T (n.*657+28C>T)
n.4300+28C>T
n.2901+28C>T
c.3412+28C>T (n.3412+28C>T)
c.3460+28C>T (n.3460+28C>T)
c.3520+28C>T (n.3520+28C>T)
c.3070+28C>T (n.3070+28C>T)
c.1372+28C>T (n.1372+28C>T)
c.1189+28C>T (n.1189+28C>T)
c.3421+28C>T (n.3421+28C>T)
c.3373+28C>T (n.3373+28C>T)
c.3142+28C>T (n.3142+28C>T)
c.3043+28C>T (n.3043+28C>T)
c.2224+28C>T (n.2224+28C>T)
n.3775+28C>T
 dbSNP gnomAD v2 gnomAD v4
13g.51941053G=CA2091559213ATP7Bc.*1206+28C= (n.*1206+28C=)
c.*2300+28C= (n.*2300+28C=)
c.2935+28C= (n.2935+28C=)
c.3556+28C= (n.3556+28C=)
c.3223+28C= (n.3223+28C=)
c.3304+28C= (n.3304+28C=)
c.3322+28C= (n.3322+28C=)
n.3695+28C=
n.3947C=
c.2491+28C= (n.2491+28C=)
c.2266+28C= (n.2266+28C=)
c.3361+28C= (n.3361+28C=)
c.1334+28C=
c.*657+28C= (n.*657+28C=)
n.4300+28C=
n.2901+28C=
c.3412+28C= (n.3412+28C=)
c.3460+28C= (n.3460+28C=)
c.3520+28C= (n.3520+28C=)
c.3070+28C= (n.3070+28C=)
c.1372+28C= (n.1372+28C=)
c.1189+28C= (n.1189+28C=)
c.3421+28C= (n.3421+28C=)
c.3373+28C= (n.3373+28C=)
c.3142+28C= (n.3142+28C=)
c.3043+28C= (n.3043+28C=)
c.2224+28C= (n.2224+28C=)
n.3775+28C=
13g.51941054C=CA2091559216ATP7Bc.*1206+27G= (n.*1206+27G=)
c.*2300+27G= (n.*2300+27G=)
c.2935+27G= (n.2935+27G=)
c.3556+27G= (n.3556+27G=)
c.3223+27G= (n.3223+27G=)
c.3304+27G= (n.3304+27G=)
c.3322+27G= (n.3322+27G=)
n.3695+27G=
n.3946G=
c.2491+27G= (n.2491+27G=)
c.2266+27G= (n.2266+27G=)
c.3361+27G= (n.3361+27G=)
c.1334+27G=
c.*657+27G= (n.*657+27G=)
n.4300+27G=
n.2901+27G=
c.3412+27G= (n.3412+27G=)
c.3460+27G= (n.3460+27G=)
c.3520+27G= (n.3520+27G=)
c.3070+27G= (n.3070+27G=)
c.1372+27G= (n.1372+27G=)
c.1189+27G= (n.1189+27G=)
c.3421+27G= (n.3421+27G=)
c.3373+27G= (n.3373+27G=)
c.3142+27G= (n.3142+27G=)
c.3043+27G= (n.3043+27G=)
c.2224+27G= (n.2224+27G=)
n.3775+27G=
13g.51941054C>GCA2623119740ATP7Bc.*1206+27G>C (n.*1206+27G>C)
c.*2300+27G>C (n.*2300+27G>C)
c.2935+27G>C (n.2935+27G>C)
c.3556+27G>C (n.3556+27G>C)
c.3223+27G>C (n.3223+27G>C)
c.3304+27G>C (n.3304+27G>C)
c.3322+27G>C (n.3322+27G>C)
n.3695+27G>C
n.3946G>C
c.2491+27G>C (n.2491+27G>C)
c.2266+27G>C (n.2266+27G>C)
c.3361+27G>C (n.3361+27G>C)
c.1334+27G>C
c.*657+27G>C (n.*657+27G>C)
n.4300+27G>C
n.2901+27G>C
c.3412+27G>C (n.3412+27G>C)
c.3460+27G>C (n.3460+27G>C)
c.3520+27G>C (n.3520+27G>C)
c.3070+27G>C (n.3070+27G>C)
c.1372+27G>C (n.1372+27G>C)
c.1189+27G>C (n.1189+27G>C)
c.3421+27G>C (n.3421+27G>C)
c.3373+27G>C (n.3373+27G>C)
c.3142+27G>C (n.3142+27G>C)
c.3043+27G>C (n.3043+27G>C)
c.2224+27G>C (n.2224+27G>C)
n.3775+27G>C
 gnomAD v4
13g.51941054C>TCA6988655ATP7Bc.*1206+27G>A (n.*1206+27G>A)
c.*2300+27G>A (n.*2300+27G>A)
c.2935+27G>A (n.2935+27G>A)
c.3556+27G>A (n.3556+27G>A)
c.3223+27G>A (n.3223+27G>A)
c.3304+27G>A (n.3304+27G>A)
c.3322+27G>A (n.3322+27G>A)
n.3695+27G>A
n.3946G>A
c.2491+27G>A (n.2491+27G>A)
c.2266+27G>A (n.2266+27G>A)
c.3361+27G>A (n.3361+27G>A)
c.1334+27G>A
c.*657+27G>A (n.*657+27G>A)
n.4300+27G>A
n.2901+27G>A
c.3412+27G>A (n.3412+27G>A)
c.3460+27G>A (n.3460+27G>A)
c.3520+27G>A (n.3520+27G>A)
c.3070+27G>A (n.3070+27G>A)
c.1372+27G>A (n.1372+27G>A)
c.1189+27G>A (n.1189+27G>A)
c.3421+27G>A (n.3421+27G>A)
c.3373+27G>A (n.3373+27G>A)
c.3142+27G>A (n.3142+27G>A)
c.3043+27G>A (n.3043+27G>A)
c.2224+27G>A (n.2224+27G>A)
n.3775+27G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941055G>ACA6988656ATP7Bc.*1206+26C>T (n.*1206+26C>T)
c.*2300+26C>T (n.*2300+26C>T)
c.2935+26C>T (n.2935+26C>T)
c.3556+26C>T (n.3556+26C>T)
c.3223+26C>T (n.3223+26C>T)
c.3304+26C>T (n.3304+26C>T)
c.3322+26C>T (n.3322+26C>T)
n.3695+26C>T
n.3945C>T
c.2491+26C>T (n.2491+26C>T)
c.2266+26C>T (n.2266+26C>T)
c.3361+26C>T (n.3361+26C>T)
c.1334+26C>T
c.*657+26C>T (n.*657+26C>T)
n.4300+26C>T
n.2901+26C>T
c.3412+26C>T (n.3412+26C>T)
c.3460+26C>T (n.3460+26C>T)
c.3520+26C>T (n.3520+26C>T)
c.3070+26C>T (n.3070+26C>T)
c.1372+26C>T (n.1372+26C>T)
c.1189+26C>T (n.1189+26C>T)
c.3421+26C>T (n.3421+26C>T)
c.3373+26C>T (n.3373+26C>T)
c.3142+26C>T (n.3142+26C>T)
c.3043+26C>T (n.3043+26C>T)
c.2224+26C>T (n.2224+26C>T)
n.3775+26C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941055G>CCA2091559226ATP7Bc.*1206+26C>G (n.*1206+26C>G)
c.*2300+26C>G (n.*2300+26C>G)
c.2935+26C>G (n.2935+26C>G)
c.3556+26C>G (n.3556+26C>G)
c.3223+26C>G (n.3223+26C>G)
c.3304+26C>G (n.3304+26C>G)
c.3322+26C>G (n.3322+26C>G)
n.3695+26C>G
n.3945C>G
c.2491+26C>G (n.2491+26C>G)
c.2266+26C>G (n.2266+26C>G)
c.3361+26C>G (n.3361+26C>G)
c.1334+26C>G
c.*657+26C>G (n.*657+26C>G)
n.4300+26C>G
n.2901+26C>G
c.3412+26C>G (n.3412+26C>G)
c.3460+26C>G (n.3460+26C>G)
c.3520+26C>G (n.3520+26C>G)
c.3070+26C>G (n.3070+26C>G)
c.1372+26C>G (n.1372+26C>G)
c.1189+26C>G (n.1189+26C>G)
c.3421+26C>G (n.3421+26C>G)
c.3373+26C>G (n.3373+26C>G)
c.3142+26C>G (n.3142+26C>G)
c.3043+26C>G (n.3043+26C>G)
c.2224+26C>G (n.2224+26C>G)
n.3775+26C>G
 dbSNP gnomAD v4
13g.51941055G=CA2091559223ATP7Bc.*1206+26C= (n.*1206+26C=)
c.*2300+26C= (n.*2300+26C=)
c.2935+26C= (n.2935+26C=)
c.3556+26C= (n.3556+26C=)
c.3223+26C= (n.3223+26C=)
c.3304+26C= (n.3304+26C=)
c.3322+26C= (n.3322+26C=)
n.3695+26C=
n.3945C=
c.2491+26C= (n.2491+26C=)
c.2266+26C= (n.2266+26C=)
c.3361+26C= (n.3361+26C=)
c.1334+26C=
c.*657+26C= (n.*657+26C=)
n.4300+26C=
n.2901+26C=
c.3412+26C= (n.3412+26C=)
c.3460+26C= (n.3460+26C=)
c.3520+26C= (n.3520+26C=)
c.3070+26C= (n.3070+26C=)
c.1372+26C= (n.1372+26C=)
c.1189+26C= (n.1189+26C=)
c.3421+26C= (n.3421+26C=)
c.3373+26C= (n.3373+26C=)
c.3142+26C= (n.3142+26C=)
c.3043+26C= (n.3043+26C=)
c.2224+26C= (n.2224+26C=)
n.3775+26C=
13g.51941055G>TCA698882876ATP7Bc.*1206+26C>A (n.*1206+26C>A)
c.*2300+26C>A (n.*2300+26C>A)
c.2935+26C>A (n.2935+26C>A)
c.3556+26C>A (n.3556+26C>A)
c.3223+26C>A (n.3223+26C>A)
c.3304+26C>A (n.3304+26C>A)
c.3322+26C>A (n.3322+26C>A)
n.3695+26C>A
n.3945C>A
c.2491+26C>A (n.2491+26C>A)
c.2266+26C>A (n.2266+26C>A)
c.3361+26C>A (n.3361+26C>A)
c.1334+26C>A
c.*657+26C>A (n.*657+26C>A)
n.4300+26C>A
n.2901+26C>A
c.3412+26C>A (n.3412+26C>A)
c.3460+26C>A (n.3460+26C>A)
c.3520+26C>A (n.3520+26C>A)
c.3070+26C>A (n.3070+26C>A)
c.1372+26C>A (n.1372+26C>A)
c.1189+26C>A (n.1189+26C>A)
c.3421+26C>A (n.3421+26C>A)
c.3373+26C>A (n.3373+26C>A)
c.3142+26C>A (n.3142+26C>A)
c.3043+26C>A (n.3043+26C>A)
c.2224+26C>A (n.2224+26C>A)
n.3775+26C>A
 dbSNP
13g.51941061_51941064delCA2575420554ATP7Bc.*1206+23_*1206+26del (n.*1206+23_*1206+26del)
c.*2300+23_*2300+26del (n.*2300+23_*2300+26del)
c.2935+23_2935+26del (n.2935+23_2935+26del)
c.3556+23_3556+26del (n.3556+23_3556+26del)
c.3223+23_3223+26del (n.3223+23_3223+26del)
c.3304+23_3304+26del (n.3304+23_3304+26del)
c.3322+23_3322+26del (n.3322+23_3322+26del)
n.3695+23_3695+26del
n.3942_3945del
c.2491+23_2491+26del (n.2491+23_2491+26del)
c.2266+23_2266+26del (n.2266+23_2266+26del)
c.3361+23_3361+26del (n.3361+23_3361+26del)
c.1334+23_1334+26del
c.*657+23_*657+26del (n.*657+23_*657+26del)
n.4300+23_4300+26del
n.2901+23_2901+26del
c.3412+23_3412+26del (n.3412+23_3412+26del)
c.3460+23_3460+26del (n.3460+23_3460+26del)
c.3520+23_3520+26del (n.3520+23_3520+26del)
c.3070+23_3070+26del (n.3070+23_3070+26del)
c.1372+23_1372+26del (n.1372+23_1372+26del)
c.1189+23_1189+26del (n.1189+23_1189+26del)
c.3421+23_3421+26del (n.3421+23_3421+26del)
c.3373+23_3373+26del (n.3373+23_3373+26del)
c.3142+23_3142+26del (n.3142+23_3142+26del)
c.3043+23_3043+26del (n.3043+23_3043+26del)
c.2224+23_2224+26del (n.2224+23_2224+26del)
n.3775+23_3775+26del
 gnomAD v4
13g.51941056G>TCA2623119741ATP7Bc.*1206+25C>A (n.*1206+25C>A)
c.*2300+25C>A (n.*2300+25C>A)
c.2935+25C>A (n.2935+25C>A)
c.3556+25C>A (n.3556+25C>A)
c.3223+25C>A (n.3223+25C>A)
c.3304+25C>A (n.3304+25C>A)
c.3322+25C>A (n.3322+25C>A)
n.3695+25C>A
n.3944C>A
c.2491+25C>A (n.2491+25C>A)
c.2266+25C>A (n.2266+25C>A)
c.3361+25C>A (n.3361+25C>A)
c.1334+25C>A
c.*657+25C>A (n.*657+25C>A)
n.4300+25C>A
n.2901+25C>A
c.3412+25C>A (n.3412+25C>A)
c.3460+25C>A (n.3460+25C>A)
c.3520+25C>A (n.3520+25C>A)
c.3070+25C>A (n.3070+25C>A)
c.1372+25C>A (n.1372+25C>A)
c.1189+25C>A (n.1189+25C>A)
c.3421+25C>A (n.3421+25C>A)
c.3373+25C>A (n.3373+25C>A)
c.3142+25C>A (n.3142+25C>A)
c.3043+25C>A (n.3043+25C>A)
c.2224+25C>A (n.2224+25C>A)
n.3775+25C>A
 gnomAD v4
13g.51941057A>TCA2623119742ATP7Bc.*1206+24T>A (n.*1206+24T>A)
c.*2300+24T>A (n.*2300+24T>A)
c.2935+24T>A (n.2935+24T>A)
c.3556+24T>A (n.3556+24T>A)
c.3223+24T>A (n.3223+24T>A)
c.3304+24T>A (n.3304+24T>A)
c.3322+24T>A (n.3322+24T>A)
n.3695+24T>A
n.3943T>A
c.2491+24T>A (n.2491+24T>A)
c.2266+24T>A (n.2266+24T>A)
c.3361+24T>A (n.3361+24T>A)
c.1334+24T>A
c.*657+24T>A (n.*657+24T>A)
n.4300+24T>A
n.2901+24T>A
c.3412+24T>A (n.3412+24T>A)
c.3460+24T>A (n.3460+24T>A)
c.3520+24T>A (n.3520+24T>A)
c.3070+24T>A (n.3070+24T>A)
c.1372+24T>A (n.1372+24T>A)
c.1189+24T>A (n.1189+24T>A)
c.3421+24T>A (n.3421+24T>A)
c.3373+24T>A (n.3373+24T>A)
c.3142+24T>A (n.3142+24T>A)
c.3043+24T>A (n.3043+24T>A)
c.2224+24T>A (n.2224+24T>A)
n.3775+24T>A
 gnomAD v4
13g.51941058A=CA2091559231ATP7Bc.*1206+23T= (n.*1206+23T=)
c.*2300+23T= (n.*2300+23T=)
c.2935+23T= (n.2935+23T=)
c.3556+23T= (n.3556+23T=)
c.3223+23T= (n.3223+23T=)
c.3304+23T= (n.3304+23T=)
c.3322+23T= (n.3322+23T=)
n.3695+23T=
n.3942T=
c.2491+23T= (n.2491+23T=)
c.2266+23T= (n.2266+23T=)
c.3361+23T= (n.3361+23T=)
c.1334+23T=
c.*657+23T= (n.*657+23T=)
n.4300+23T=
n.2901+23T=
c.3412+23T= (n.3412+23T=)
c.3460+23T= (n.3460+23T=)
c.3520+23T= (n.3520+23T=)
c.3070+23T= (n.3070+23T=)
c.1372+23T= (n.1372+23T=)
c.1189+23T= (n.1189+23T=)
c.3421+23T= (n.3421+23T=)
c.3373+23T= (n.3373+23T=)
c.3142+23T= (n.3142+23T=)
c.3043+23T= (n.3043+23T=)
c.2224+23T= (n.2224+23T=)
n.3775+23T=
13g.51941058A>GCA6988657ATP7Bc.*1206+23T>C (n.*1206+23T>C)
c.*2300+23T>C (n.*2300+23T>C)
c.2935+23T>C (n.2935+23T>C)
c.3556+23T>C (n.3556+23T>C)
c.3223+23T>C (n.3223+23T>C)
c.3304+23T>C (n.3304+23T>C)
c.3322+23T>C (n.3322+23T>C)
n.3695+23T>C
n.3942T>C
c.2491+23T>C (n.2491+23T>C)
c.2266+23T>C (n.2266+23T>C)
c.3361+23T>C (n.3361+23T>C)
c.1334+23T>C
c.*657+23T>C (n.*657+23T>C)
n.4300+23T>C
n.2901+23T>C
c.3412+23T>C (n.3412+23T>C)
c.3460+23T>C (n.3460+23T>C)
c.3520+23T>C (n.3520+23T>C)
c.3070+23T>C (n.3070+23T>C)
c.1372+23T>C (n.1372+23T>C)
c.1189+23T>C (n.1189+23T>C)
c.3421+23T>C (n.3421+23T>C)
c.3373+23T>C (n.3373+23T>C)
c.3142+23T>C (n.3142+23T>C)
c.3043+23T>C (n.3043+23T>C)
c.2224+23T>C (n.2224+23T>C)
n.3775+23T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941059G>ACA6988658ATP7Bc.*1206+22C>T (n.*1206+22C>T)
c.*2300+22C>T (n.*2300+22C>T)
c.2935+22C>T (n.2935+22C>T)
c.3556+22C>T (n.3556+22C>T)
c.3223+22C>T (n.3223+22C>T)
c.3304+22C>T (n.3304+22C>T)
c.3322+22C>T (n.3322+22C>T)
n.3695+22C>T
n.3941C>T
c.2491+22C>T (n.2491+22C>T)
c.2266+22C>T (n.2266+22C>T)
c.3361+22C>T (n.3361+22C>T)
c.1334+22C>T
c.*657+22C>T (n.*657+22C>T)
n.4300+22C>T
n.2901+22C>T
c.3412+22C>T (n.3412+22C>T)
c.3460+22C>T (n.3460+22C>T)
c.3520+22C>T (n.3520+22C>T)
c.3070+22C>T (n.3070+22C>T)
c.1372+22C>T (n.1372+22C>T)
c.1189+22C>T (n.1189+22C>T)
c.3421+22C>T (n.3421+22C>T)
c.3373+22C>T (n.3373+22C>T)
c.3142+22C>T (n.3142+22C>T)
c.3043+22C>T (n.3043+22C>T)
c.2224+22C>T (n.2224+22C>T)
n.3775+22C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51941059G>CCA2091559235ATP7Bc.*1206+22C>G (n.*1206+22C>G)
c.*2300+22C>G (n.*2300+22C>G)
c.2935+22C>G (n.2935+22C>G)
c.3556+22C>G (n.3556+22C>G)
c.3223+22C>G (n.3223+22C>G)
c.3304+22C>G (n.3304+22C>G)
c.3322+22C>G (n.3322+22C>G)
n.3695+22C>G
n.3941C>G
c.2491+22C>G (n.2491+22C>G)
c.2266+22C>G (n.2266+22C>G)
c.3361+22C>G (n.3361+22C>G)
c.1334+22C>G
c.*657+22C>G (n.*657+22C>G)
n.4300+22C>G
n.2901+22C>G
c.3412+22C>G (n.3412+22C>G)
c.3460+22C>G (n.3460+22C>G)
c.3520+22C>G (n.3520+22C>G)
c.3070+22C>G (n.3070+22C>G)
c.1372+22C>G (n.1372+22C>G)
c.1189+22C>G (n.1189+22C>G)
c.3421+22C>G (n.3421+22C>G)
c.3373+22C>G (n.3373+22C>G)
c.3142+22C>G (n.3142+22C>G)
c.3043+22C>G (n.3043+22C>G)
c.2224+22C>G (n.2224+22C>G)
n.3775+22C>G
 dbSNP
13g.51941059G=CA2091559234ATP7Bc.*1206+22C= (n.*1206+22C=)
c.*2300+22C= (n.*2300+22C=)
c.2935+22C= (n.2935+22C=)
c.3556+22C= (n.3556+22C=)
c.3223+22C= (n.3223+22C=)
c.3304+22C= (n.3304+22C=)
c.3322+22C= (n.3322+22C=)
n.3695+22C=
n.3941C=
c.2491+22C= (n.2491+22C=)
c.2266+22C= (n.2266+22C=)
c.3361+22C= (n.3361+22C=)
c.1334+22C=
c.*657+22C= (n.*657+22C=)
n.4300+22C=
n.2901+22C=
c.3412+22C= (n.3412+22C=)
c.3460+22C= (n.3460+22C=)
c.3520+22C= (n.3520+22C=)
c.3070+22C= (n.3070+22C=)
c.1372+22C= (n.1372+22C=)
c.1189+22C= (n.1189+22C=)
c.3421+22C= (n.3421+22C=)
c.3373+22C= (n.3373+22C=)
c.3142+22C= (n.3142+22C=)
c.3043+22C= (n.3043+22C=)
c.2224+22C= (n.2224+22C=)
n.3775+22C=
13g.51941060G>ACA2623119743ATP7Bc.*1206+21C>T (n.*1206+21C>T)
c.*2300+21C>T (n.*2300+21C>T)
c.2935+21C>T (n.2935+21C>T)
c.3556+21C>T (n.3556+21C>T)
c.3223+21C>T (n.3223+21C>T)
c.3304+21C>T (n.3304+21C>T)
c.3322+21C>T (n.3322+21C>T)
n.3695+21C>T
n.3940C>T
c.2491+21C>T (n.2491+21C>T)
c.2266+21C>T (n.2266+21C>T)
c.3361+21C>T (n.3361+21C>T)
c.1334+21C>T
c.*657+21C>T (n.*657+21C>T)
n.4300+21C>T
n.2901+21C>T
c.3412+21C>T (n.3412+21C>T)
c.3460+21C>T (n.3460+21C>T)
c.3520+21C>T (n.3520+21C>T)
c.3070+21C>T (n.3070+21C>T)
c.1372+21C>T (n.1372+21C>T)
c.1189+21C>T (n.1189+21C>T)
c.3421+21C>T (n.3421+21C>T)
c.3373+21C>T (n.3373+21C>T)
c.3142+21C>T (n.3142+21C>T)
c.3043+21C>T (n.3043+21C>T)
c.2224+21C>T (n.2224+21C>T)
n.3775+21C>T
 gnomAD v4
13g.51941061A=CA2091559238ATP7Bc.*1206+20T= (n.*1206+20T=)
c.*2300+20T= (n.*2300+20T=)
c.2935+20T= (n.2935+20T=)
c.3556+20T= (n.3556+20T=)
c.3223+20T= (n.3223+20T=)
c.3304+20T= (n.3304+20T=)
c.3322+20T= (n.3322+20T=)
n.3695+20T=
n.3939T=
c.2491+20T= (n.2491+20T=)
c.2266+20T= (n.2266+20T=)
c.3361+20T= (n.3361+20T=)
c.1334+20T=
c.*657+20T= (n.*657+20T=)
n.4300+20T=
n.2901+20T=
c.3412+20T= (n.3412+20T=)
c.3460+20T= (n.3460+20T=)
c.3520+20T= (n.3520+20T=)
c.3070+20T= (n.3070+20T=)
c.1372+20T= (n.1372+20T=)
c.1189+20T= (n.1189+20T=)
c.3421+20T= (n.3421+20T=)
c.3373+20T= (n.3373+20T=)
c.3142+20T= (n.3142+20T=)
c.3043+20T= (n.3043+20T=)
c.2224+20T= (n.2224+20T=)
n.3775+20T=
13g.51941061A>CCA6988659ATP7Bc.*1206+20T>G (n.*1206+20T>G)
c.*2300+20T>G (n.*2300+20T>G)
c.2935+20T>G (n.2935+20T>G)
c.3556+20T>G (n.3556+20T>G)
c.3223+20T>G (n.3223+20T>G)
c.3304+20T>G (n.3304+20T>G)
c.3322+20T>G (n.3322+20T>G)
n.3695+20T>G
n.3939T>G
c.2491+20T>G (n.2491+20T>G)
c.2266+20T>G (n.2266+20T>G)
c.3361+20T>G (n.3361+20T>G)
c.1334+20T>G
c.*657+20T>G (n.*657+20T>G)
n.4300+20T>G
n.2901+20T>G
c.3412+20T>G (n.3412+20T>G)
c.3460+20T>G (n.3460+20T>G)
c.3520+20T>G (n.3520+20T>G)
c.3070+20T>G (n.3070+20T>G)
c.1372+20T>G (n.1372+20T>G)
c.1189+20T>G (n.1189+20T>G)
c.3421+20T>G (n.3421+20T>G)
c.3373+20T>G (n.3373+20T>G)
c.3142+20T>G (n.3142+20T>G)
c.3043+20T>G (n.3043+20T>G)
c.2224+20T>G (n.2224+20T>G)
n.3775+20T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941061A>GCA956029722ATP7Bc.*1206+20T>C (n.*1206+20T>C)
c.*2300+20T>C (n.*2300+20T>C)
c.2935+20T>C (n.2935+20T>C)
c.3556+20T>C (n.3556+20T>C)
c.3223+20T>C (n.3223+20T>C)
c.3304+20T>C (n.3304+20T>C)
c.3322+20T>C (n.3322+20T>C)
n.3695+20T>C
n.3939T>C
c.2491+20T>C (n.2491+20T>C)
c.2266+20T>C (n.2266+20T>C)
c.3361+20T>C (n.3361+20T>C)
c.1334+20T>C
c.*657+20T>C (n.*657+20T>C)
n.4300+20T>C
n.2901+20T>C
c.3412+20T>C (n.3412+20T>C)
c.3460+20T>C (n.3460+20T>C)
c.3520+20T>C (n.3520+20T>C)
c.3070+20T>C (n.3070+20T>C)
c.1372+20T>C (n.1372+20T>C)
c.1189+20T>C (n.1189+20T>C)
c.3421+20T>C (n.3421+20T>C)
c.3373+20T>C (n.3373+20T>C)
c.3142+20T>C (n.3142+20T>C)
c.3043+20T>C (n.3043+20T>C)
c.2224+20T>C (n.2224+20T>C)
n.3775+20T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51941062A>GCA2623119744ATP7Bc.*1206+19T>C (n.*1206+19T>C)
c.*2300+19T>C (n.*2300+19T>C)
c.2935+19T>C (n.2935+19T>C)
c.3556+19T>C (n.3556+19T>C)
c.3223+19T>C (n.3223+19T>C)
c.3304+19T>C (n.3304+19T>C)
c.3322+19T>C (n.3322+19T>C)
n.3695+19T>C
n.3938T>C
c.2491+19T>C (n.2491+19T>C)
c.2266+19T>C (n.2266+19T>C)
c.3361+19T>C (n.3361+19T>C)
c.1334+19T>C
c.*657+19T>C (n.*657+19T>C)
n.4300+19T>C
n.2901+19T>C
c.3412+19T>C (n.3412+19T>C)
c.3460+19T>C (n.3460+19T>C)
c.3520+19T>C (n.3520+19T>C)
c.3070+19T>C (n.3070+19T>C)
c.1372+19T>C (n.1372+19T>C)
c.1189+19T>C (n.1189+19T>C)
c.3421+19T>C (n.3421+19T>C)
c.3373+19T>C (n.3373+19T>C)
c.3142+19T>C (n.3142+19T>C)
c.3043+19T>C (n.3043+19T>C)
c.2224+19T>C (n.2224+19T>C)
n.3775+19T>C
 gnomAD v4
13g.51941063G>ACA2623119745ATP7Bc.*1206+18C>T (n.*1206+18C>T)
c.*2300+18C>T (n.*2300+18C>T)
c.2935+18C>T (n.2935+18C>T)
c.3556+18C>T (n.3556+18C>T)
c.3223+18C>T (n.3223+18C>T)
c.3304+18C>T (n.3304+18C>T)
c.3322+18C>T (n.3322+18C>T)
n.3695+18C>T
n.3937C>T
c.2491+18C>T (n.2491+18C>T)
c.2266+18C>T (n.2266+18C>T)
c.3361+18C>T (n.3361+18C>T)
c.1334+18C>T
c.*657+18C>T (n.*657+18C>T)
n.4300+18C>T
n.2901+18C>T
c.3412+18C>T (n.3412+18C>T)
c.3460+18C>T (n.3460+18C>T)
c.3520+18C>T (n.3520+18C>T)
c.3070+18C>T (n.3070+18C>T)
c.1372+18C>T (n.1372+18C>T)
c.1189+18C>T (n.1189+18C>T)
c.3421+18C>T (n.3421+18C>T)
c.3373+18C>T (n.3373+18C>T)
c.3142+18C>T (n.3142+18C>T)
c.3043+18C>T (n.3043+18C>T)
c.2224+18C>T (n.2224+18C>T)
n.3775+18C>T
 gnomAD v4
13g.51941065C>ACA2697551877ATP7Bc.*1206+16G>T (n.*1206+16G>T)
c.*2300+16G>T (n.*2300+16G>T)
c.2935+16G>T (n.2935+16G>T)
c.3556+16G>T (n.3556+16G>T)
c.3223+16G>T (n.3223+16G>T)
c.3304+16G>T (n.3304+16G>T)
c.3322+16G>T (n.3322+16G>T)
n.3695+16G>T
n.3935G>T
c.2491+16G>T (n.2491+16G>T)
c.2266+16G>T (n.2266+16G>T)
c.3361+16G>T (n.3361+16G>T)
c.1334+16G>T
c.*657+16G>T (n.*657+16G>T)
n.4300+16G>T
n.2901+16G>T
c.3412+16G>T (n.3412+16G>T)
c.3460+16G>T (n.3460+16G>T)
c.3520+16G>T (n.3520+16G>T)
c.3070+16G>T (n.3070+16G>T)
c.1372+16G>T (n.1372+16G>T)
c.1189+16G>T (n.1189+16G>T)
c.3421+16G>T (n.3421+16G>T)
c.3373+16G>T (n.3373+16G>T)
c.3142+16G>T (n.3142+16G>T)
c.3043+16G>T (n.3043+16G>T)
c.2224+16G>T (n.2224+16G>T)
n.3775+16G>T
 ClinVar
13g.51941065C=CA2091559242ATP7Bc.*1206+16G= (n.*1206+16G=)
c.*2300+16G= (n.*2300+16G=)
c.2935+16G= (n.2935+16G=)
c.3556+16G= (n.3556+16G=)
c.3223+16G= (n.3223+16G=)
c.3304+16G= (n.3304+16G=)
c.3322+16G= (n.3322+16G=)
n.3695+16G=
n.3935G=
c.2491+16G= (n.2491+16G=)
c.2266+16G= (n.2266+16G=)
c.3361+16G= (n.3361+16G=)
c.1334+16G=
c.*657+16G= (n.*657+16G=)
n.4300+16G=
n.2901+16G=
c.3412+16G= (n.3412+16G=)
c.3460+16G= (n.3460+16G=)
c.3520+16G= (n.3520+16G=)
c.3070+16G= (n.3070+16G=)
c.1372+16G= (n.1372+16G=)
c.1189+16G= (n.1189+16G=)
c.3421+16G= (n.3421+16G=)
c.3373+16G= (n.3373+16G=)
c.3142+16G= (n.3142+16G=)
c.3043+16G= (n.3043+16G=)
c.2224+16G= (n.2224+16G=)
n.3775+16G=
13g.51941065C>GCA6988660ATP7Bc.*1206+16G>C (n.*1206+16G>C)
c.*2300+16G>C (n.*2300+16G>C)
c.2935+16G>C (n.2935+16G>C)
c.3556+16G>C (n.3556+16G>C)
c.3223+16G>C (n.3223+16G>C)
c.3304+16G>C (n.3304+16G>C)
c.3322+16G>C (n.3322+16G>C)
n.3695+16G>C
n.3935G>C
c.2491+16G>C (n.2491+16G>C)
c.2266+16G>C (n.2266+16G>C)
c.3361+16G>C (n.3361+16G>C)
c.1334+16G>C
c.*657+16G>C (n.*657+16G>C)
n.4300+16G>C
n.2901+16G>C
c.3412+16G>C (n.3412+16G>C)
c.3460+16G>C (n.3460+16G>C)
c.3520+16G>C (n.3520+16G>C)
c.3070+16G>C (n.3070+16G>C)
c.1372+16G>C (n.1372+16G>C)
c.1189+16G>C (n.1189+16G>C)
c.3421+16G>C (n.3421+16G>C)
c.3373+16G>C (n.3373+16G>C)
c.3142+16G>C (n.3142+16G>C)
c.3043+16G>C (n.3043+16G>C)
c.2224+16G>C (n.2224+16G>C)
n.3775+16G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51941065C>TCA2739277680ATP7Bc.*1206+16G>A (n.*1206+16G>A)
c.*2300+16G>A (n.*2300+16G>A)
c.2935+16G>A (n.2935+16G>A)
c.3556+16G>A (n.3556+16G>A)
c.3223+16G>A (n.3223+16G>A)
c.3304+16G>A (n.3304+16G>A)
c.3322+16G>A (n.3322+16G>A)
n.3695+16G>A
n.3935G>A
c.2491+16G>A (n.2491+16G>A)
c.2266+16G>A (n.2266+16G>A)
c.3361+16G>A (n.3361+16G>A)
c.1334+16G>A
c.*657+16G>A (n.*657+16G>A)
n.4300+16G>A
n.2901+16G>A
c.3412+16G>A (n.3412+16G>A)
c.3460+16G>A (n.3460+16G>A)
c.3520+16G>A (n.3520+16G>A)
c.3070+16G>A (n.3070+16G>A)
c.1372+16G>A (n.1372+16G>A)
c.1189+16G>A (n.1189+16G>A)
c.3421+16G>A (n.3421+16G>A)
c.3373+16G>A (n.3373+16G>A)
c.3142+16G>A (n.3142+16G>A)
c.3043+16G>A (n.3043+16G>A)
c.2224+16G>A (n.2224+16G>A)
n.3775+16G>A
 ClinVar
13g.51941066A>TCA2575420555ATP7Bc.*1206+15T>A (n.*1206+15T>A)
c.*2300+15T>A (n.*2300+15T>A)
c.2935+15T>A (n.2935+15T>A)
c.3556+15T>A (n.3556+15T>A)
c.3223+15T>A (n.3223+15T>A)
c.3304+15T>A (n.3304+15T>A)
c.3322+15T>A (n.3322+15T>A)
n.3695+15T>A
n.3934T>A
c.2491+15T>A (n.2491+15T>A)
c.2266+15T>A (n.2266+15T>A)
c.3361+15T>A (n.3361+15T>A)
c.1334+15T>A
c.*657+15T>A (n.*657+15T>A)
n.4300+15T>A
n.2901+15T>A
c.3412+15T>A (n.3412+15T>A)
c.3460+15T>A (n.3460+15T>A)
c.3520+15T>A (n.3520+15T>A)
c.3070+15T>A (n.3070+15T>A)
c.1372+15T>A (n.1372+15T>A)
c.1189+15T>A (n.1189+15T>A)
c.3421+15T>A (n.3421+15T>A)
c.3373+15T>A (n.3373+15T>A)
c.3142+15T>A (n.3142+15T>A)
c.3043+15T>A (n.3043+15T>A)
c.2224+15T>A (n.2224+15T>A)
n.3775+15T>A
 ClinVar gnomAD v4
13g.51941067G>ACA2623119746ATP7Bc.*1206+14C>T (n.*1206+14C>T)
c.*2300+14C>T (n.*2300+14C>T)
c.2935+14C>T (n.2935+14C>T)
c.3556+14C>T (n.3556+14C>T)
c.3223+14C>T (n.3223+14C>T)
c.3304+14C>T (n.3304+14C>T)
c.3322+14C>T (n.3322+14C>T)
n.3695+14C>T
n.3933C>T
c.2491+14C>T (n.2491+14C>T)
c.2266+14C>T (n.2266+14C>T)
c.3361+14C>T (n.3361+14C>T)
c.1334+14C>T
c.*657+14C>T (n.*657+14C>T)
n.4300+14C>T
n.2901+14C>T
c.3412+14C>T (n.3412+14C>T)
c.3460+14C>T (n.3460+14C>T)
c.3520+14C>T (n.3520+14C>T)
c.3070+14C>T (n.3070+14C>T)
c.1372+14C>T (n.1372+14C>T)
c.1189+14C>T (n.1189+14C>T)
c.3421+14C>T (n.3421+14C>T)
c.3373+14C>T (n.3373+14C>T)
c.3142+14C>T (n.3142+14C>T)
c.3043+14C>T (n.3043+14C>T)
c.2224+14C>T (n.2224+14C>T)
n.3775+14C>T
 gnomAD v4
13g.51941068A=CA2091559248ATP7Bc.*1206+13T= (n.*1206+13T=)
c.*2300+13T= (n.*2300+13T=)
c.2935+13T= (n.2935+13T=)
c.3556+13T= (n.3556+13T=)
c.3223+13T= (n.3223+13T=)
c.3304+13T= (n.3304+13T=)
c.3322+13T= (n.3322+13T=)
n.3695+13T=
n.3932T=
c.2491+13T= (n.2491+13T=)
c.2266+13T= (n.2266+13T=)
c.3361+13T= (n.3361+13T=)
c.1334+13T=
c.*657+13T= (n.*657+13T=)
n.4300+13T=
n.2901+13T=
c.3412+13T= (n.3412+13T=)
c.3460+13T= (n.3460+13T=)
c.3520+13T= (n.3520+13T=)
c.3070+13T= (n.3070+13T=)
c.1372+13T= (n.1372+13T=)
c.1189+13T= (n.1189+13T=)
c.3421+13T= (n.3421+13T=)
c.3373+13T= (n.3373+13T=)
c.3142+13T= (n.3142+13T=)
c.3043+13T= (n.3043+13T=)
c.2224+13T= (n.2224+13T=)
n.3775+13T=
13g.51941068A>CCA250077054ATP7Bc.*1206+13T>G (n.*1206+13T>G)
c.*2300+13T>G (n.*2300+13T>G)
c.2935+13T>G (n.2935+13T>G)
c.3556+13T>G (n.3556+13T>G)
c.3223+13T>G (n.3223+13T>G)
c.3304+13T>G (n.3304+13T>G)
c.3322+13T>G (n.3322+13T>G)
n.3695+13T>G
n.3932T>G
c.2491+13T>G (n.2491+13T>G)
c.2266+13T>G (n.2266+13T>G)
c.3361+13T>G (n.3361+13T>G)
c.1334+13T>G
c.*657+13T>G (n.*657+13T>G)
n.4300+13T>G
n.2901+13T>G
c.3412+13T>G (n.3412+13T>G)
c.3460+13T>G (n.3460+13T>G)
c.3520+13T>G (n.3520+13T>G)
c.3070+13T>G (n.3070+13T>G)
c.1372+13T>G (n.1372+13T>G)
c.1189+13T>G (n.1189+13T>G)
c.3421+13T>G (n.3421+13T>G)
c.3373+13T>G (n.3373+13T>G)
c.3142+13T>G (n.3142+13T>G)
c.3043+13T>G (n.3043+13T>G)
c.2224+13T>G (n.2224+13T>G)
n.3775+13T>G
 dbSNP
13g.51941068A>TCA2091559247ATP7Bc.*1206+13T>A (n.*1206+13T>A)
c.*2300+13T>A (n.*2300+13T>A)
c.2935+13T>A (n.2935+13T>A)
c.3556+13T>A (n.3556+13T>A)
c.3223+13T>A (n.3223+13T>A)
c.3304+13T>A (n.3304+13T>A)
c.3322+13T>A (n.3322+13T>A)
n.3695+13T>A
n.3932T>A
c.2491+13T>A (n.2491+13T>A)
c.2266+13T>A (n.2266+13T>A)
c.3361+13T>A (n.3361+13T>A)
c.1334+13T>A
c.*657+13T>A (n.*657+13T>A)
n.4300+13T>A
n.2901+13T>A
c.3412+13T>A (n.3412+13T>A)
c.3460+13T>A (n.3460+13T>A)
c.3520+13T>A (n.3520+13T>A)
c.3070+13T>A (n.3070+13T>A)
c.1372+13T>A (n.1372+13T>A)
c.1189+13T>A (n.1189+13T>A)
c.3421+13T>A (n.3421+13T>A)
c.3373+13T>A (n.3373+13T>A)
c.3142+13T>A (n.3142+13T>A)
c.3043+13T>A (n.3043+13T>A)
c.2224+13T>A (n.2224+13T>A)
n.3775+13T>A
 dbSNP
13g.51941069A>GCA2580087732ATP7Bc.*1206+12T>C (n.*1206+12T>C)
c.*2300+12T>C (n.*2300+12T>C)
c.2935+12T>C (n.2935+12T>C)
c.3556+12T>C (n.3556+12T>C)
c.3223+12T>C (n.3223+12T>C)
c.3304+12T>C (n.3304+12T>C)
c.3322+12T>C (n.3322+12T>C)
n.3695+12T>C
n.3931T>C
c.2491+12T>C (n.2491+12T>C)
c.2266+12T>C (n.2266+12T>C)
c.3361+12T>C (n.3361+12T>C)
c.1334+12T>C
c.*657+12T>C (n.*657+12T>C)
n.4300+12T>C
n.2901+12T>C
c.3412+12T>C (n.3412+12T>C)
c.3460+12T>C (n.3460+12T>C)
c.3520+12T>C (n.3520+12T>C)
c.3070+12T>C (n.3070+12T>C)
c.1372+12T>C (n.1372+12T>C)
c.1189+12T>C (n.1189+12T>C)
c.3421+12T>C (n.3421+12T>C)
c.3373+12T>C (n.3373+12T>C)
c.3142+12T>C (n.3142+12T>C)
c.3043+12T>C (n.3043+12T>C)
c.2224+12T>C (n.2224+12T>C)
n.3775+12T>C
 ClinVar gnomAD v4
13g.51941070G>ACA250077061ATP7Bc.*1206+11C>T (n.*1206+11C>T)
c.*2300+11C>T (n.*2300+11C>T)
c.2935+11C>T (n.2935+11C>T)
c.3556+11C>T (n.3556+11C>T)
c.3223+11C>T (n.3223+11C>T)
c.3304+11C>T (n.3304+11C>T)
c.3322+11C>T (n.3322+11C>T)
n.3695+11C>T
n.3930C>T
c.2491+11C>T (n.2491+11C>T)
c.2266+11C>T (n.2266+11C>T)
c.3361+11C>T (n.3361+11C>T)
c.1334+11C>T
c.*657+11C>T (n.*657+11C>T)
n.4300+11C>T
n.2901+11C>T
c.3412+11C>T (n.3412+11C>T)
c.3460+11C>T (n.3460+11C>T)
c.3520+11C>T (n.3520+11C>T)
c.3070+11C>T (n.3070+11C>T)
c.1372+11C>T (n.1372+11C>T)
c.1189+11C>T (n.1189+11C>T)
c.3421+11C>T (n.3421+11C>T)
c.3373+11C>T (n.3373+11C>T)
c.3142+11C>T (n.3142+11C>T)
c.3043+11C>T (n.3043+11C>T)
c.2224+11C>T (n.2224+11C>T)
n.3775+11C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51941070G=CA2091559252ATP7Bc.*1206+11C= (n.*1206+11C=)
c.*2300+11C= (n.*2300+11C=)
c.2935+11C= (n.2935+11C=)
c.3556+11C= (n.3556+11C=)
c.3223+11C= (n.3223+11C=)
c.3304+11C= (n.3304+11C=)
c.3322+11C= (n.3322+11C=)
n.3695+11C=
n.3930C=
c.2491+11C= (n.2491+11C=)
c.2266+11C= (n.2266+11C=)
c.3361+11C= (n.3361+11C=)
c.1334+11C=
c.*657+11C= (n.*657+11C=)
n.4300+11C=
n.2901+11C=
c.3412+11C= (n.3412+11C=)
c.3460+11C= (n.3460+11C=)
c.3520+11C= (n.3520+11C=)
c.3070+11C= (n.3070+11C=)
c.1372+11C= (n.1372+11C=)
c.1189+11C= (n.1189+11C=)
c.3421+11C= (n.3421+11C=)
c.3373+11C= (n.3373+11C=)
c.3142+11C= (n.3142+11C=)
c.3043+11C= (n.3043+11C=)
c.2224+11C= (n.2224+11C=)
n.3775+11C=
13g.51941071C>ACA2739277681ATP7Bc.*1206+10G>T (n.*1206+10G>T)
c.*2300+10G>T (n.*2300+10G>T)
c.2935+10G>T (n.2935+10G>T)
c.3556+10G>T (n.3556+10G>T)
c.3223+10G>T (n.3223+10G>T)
c.3304+10G>T (n.3304+10G>T)
c.3322+10G>T (n.3322+10G>T)
n.3695+10G>T
n.3929G>T
c.2491+10G>T (n.2491+10G>T)
c.2266+10G>T (n.2266+10G>T)
c.3361+10G>T (n.3361+10G>T)
c.1334+10G>T
c.*657+10G>T (n.*657+10G>T)
n.4300+10G>T
n.2901+10G>T
c.3412+10G>T (n.3412+10G>T)
c.3460+10G>T (n.3460+10G>T)
c.3520+10G>T (n.3520+10G>T)
c.3070+10G>T (n.3070+10G>T)
c.1372+10G>T (n.1372+10G>T)
c.1189+10G>T (n.1189+10G>T)
c.3421+10G>T (n.3421+10G>T)
c.3373+10G>T (n.3373+10G>T)
c.3142+10G>T (n.3142+10G>T)
c.3043+10G>T (n.3043+10G>T)
c.2224+10G>T (n.2224+10G>T)
n.3775+10G>T
 ClinVar
13g.51941073G>CCA2573149701ATP7Bc.*1206+8C>G (n.*1206+8C>G)
c.*2300+8C>G (n.*2300+8C>G)
c.2935+8C>G (n.2935+8C>G)
c.3556+8C>G (n.3556+8C>G)
c.3223+8C>G (n.3223+8C>G)
c.3304+8C>G (n.3304+8C>G)
c.3322+8C>G (n.3322+8C>G)
n.3695+8C>G
n.3927C>G
c.2491+8C>G (n.2491+8C>G)
c.2266+8C>G (n.2266+8C>G)
c.3361+8C>G (n.3361+8C>G)
c.1334+8C>G
c.*657+8C>G (n.*657+8C>G)
n.4300+8C>G
n.2901+8C>G
c.3412+8C>G (n.3412+8C>G)
c.3460+8C>G (n.3460+8C>G)
c.3520+8C>G (n.3520+8C>G)
c.3070+8C>G (n.3070+8C>G)
c.1372+8C>G (n.1372+8C>G)
c.1189+8C>G (n.1189+8C>G)
c.3421+8C>G (n.3421+8C>G)
c.3373+8C>G (n.3373+8C>G)
c.3142+8C>G (n.3142+8C>G)
c.3043+8C>G (n.3043+8C>G)
c.2224+8C>G (n.2224+8C>G)
n.3775+8C>G
 ClinVar dbSNP gnomAD v4
13g.51941074A>TCA2623119747ATP7Bc.*1206+7T>A (n.*1206+7T>A)
c.*2300+7T>A (n.*2300+7T>A)
c.2935+7T>A (n.2935+7T>A)
c.3556+7T>A (n.3556+7T>A)
c.3223+7T>A (n.3223+7T>A)
c.3304+7T>A (n.3304+7T>A)
c.3322+7T>A (n.3322+7T>A)
n.3695+7T>A
n.3926T>A
c.2491+7T>A (n.2491+7T>A)
c.2266+7T>A (n.2266+7T>A)
c.3361+7T>A (n.3361+7T>A)
c.1334+7T>A
c.*657+7T>A (n.*657+7T>A)
n.4300+7T>A
n.2901+7T>A
c.3412+7T>A (n.3412+7T>A)
c.3460+7T>A (n.3460+7T>A)
c.3520+7T>A (n.3520+7T>A)
c.3070+7T>A (n.3070+7T>A)
c.1372+7T>A (n.1372+7T>A)
c.1189+7T>A (n.1189+7T>A)
c.3421+7T>A (n.3421+7T>A)
c.3373+7T>A (n.3373+7T>A)
c.3142+7T>A (n.3142+7T>A)
c.3043+7T>A (n.3043+7T>A)
c.2224+7T>A (n.2224+7T>A)
n.3775+7T>A
 gnomAD v4
13g.51941075A>CCA2799207341ATP7Bc.*1206+6T>G (n.*1206+6T>G)
c.*2300+6T>G (n.*2300+6T>G)
c.2935+6T>G (n.2935+6T>G)
c.3556+6T>G (n.3556+6T>G)
c.3223+6T>G (n.3223+6T>G)
c.3304+6T>G (n.3304+6T>G)
c.3322+6T>G (n.3322+6T>G)
n.3695+6T>G
n.3925T>G
c.2491+6T>G (n.2491+6T>G)
c.2266+6T>G (n.2266+6T>G)
c.3361+6T>G (n.3361+6T>G)
c.1334+6T>G
c.*657+6T>G (n.*657+6T>G)
n.4300+6T>G
n.2901+6T>G
c.3412+6T>G (n.3412+6T>G)
c.3460+6T>G (n.3460+6T>G)
c.3520+6T>G (n.3520+6T>G)
c.3070+6T>G (n.3070+6T>G)
c.1372+6T>G (n.1372+6T>G)
c.1189+6T>G (n.1189+6T>G)
c.3421+6T>G (n.3421+6T>G)
c.3373+6T>G (n.3373+6T>G)
c.3142+6T>G (n.3142+6T>G)
c.3043+6T>G (n.3043+6T>G)
c.2224+6T>G (n.2224+6T>G)
n.3775+6T>G
13g.51941076G>ACA6988661ATP7Bc.*1206+5C>T (n.*1206+5C>T)
c.*2300+5C>T (n.*2300+5C>T)
c.2935+5C>T (n.2935+5C>T)
c.3556+5C>T (n.3556+5C>T)
c.3223+5C>T (n.3223+5C>T)
c.3304+5C>T (n.3304+5C>T)
c.3322+5C>T (n.3322+5C>T)
n.3695+5C>T
n.3924C>T
c.2491+5C>T (n.2491+5C>T)
c.2266+5C>T (n.2266+5C>T)
c.3361+5C>T (n.3361+5C>T)
c.1334+5C>T
c.*657+5C>T (n.*657+5C>T)
n.4300+5C>T
n.2901+5C>T
c.3412+5C>T (n.3412+5C>T)
c.3460+5C>T (n.3460+5C>T)
c.3520+5C>T (n.3520+5C>T)
c.3070+5C>T (n.3070+5C>T)
c.1372+5C>T (n.1372+5C>T)
c.1189+5C>T (n.1189+5C>T)
c.3421+5C>T (n.3421+5C>T)
c.3373+5C>T (n.3373+5C>T)
c.3142+5C>T (n.3142+5C>T)
c.3043+5C>T (n.3043+5C>T)
c.2224+5C>T (n.2224+5C>T)
n.3775+5C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51941076G>CCA2799207342ATP7Bc.*1206+5C>G (n.*1206+5C>G)
c.*2300+5C>G (n.*2300+5C>G)
c.2935+5C>G (n.2935+5C>G)
c.3556+5C>G (n.3556+5C>G)
c.3223+5C>G (n.3223+5C>G)
c.3304+5C>G (n.3304+5C>G)
c.3322+5C>G (n.3322+5C>G)
n.3695+5C>G
n.3924C>G
c.2491+5C>G (n.2491+5C>G)
c.2266+5C>G (n.2266+5C>G)
c.3361+5C>G (n.3361+5C>G)
c.1334+5C>G
c.*657+5C>G (n.*657+5C>G)
n.4300+5C>G
n.2901+5C>G
c.3412+5C>G (n.3412+5C>G)
c.3460+5C>G (n.3460+5C>G)
c.3520+5C>G (n.3520+5C>G)
c.3070+5C>G (n.3070+5C>G)
c.1372+5C>G (n.1372+5C>G)
c.1189+5C>G (n.1189+5C>G)
c.3421+5C>G (n.3421+5C>G)
c.3373+5C>G (n.3373+5C>G)
c.3142+5C>G (n.3142+5C>G)
c.3043+5C>G (n.3043+5C>G)
c.2224+5C>G (n.2224+5C>G)
n.3775+5C>G
13g.51941076G=CA2091559256ATP7Bc.*1206+5C= (n.*1206+5C=)
c.*2300+5C= (n.*2300+5C=)
c.2935+5C= (n.2935+5C=)
c.3556+5C= (n.3556+5C=)
c.3223+5C= (n.3223+5C=)
c.3304+5C= (n.3304+5C=)
c.3322+5C= (n.3322+5C=)
n.3695+5C=
n.3924C=
c.2491+5C= (n.2491+5C=)
c.2266+5C= (n.2266+5C=)
c.3361+5C= (n.3361+5C=)
c.1334+5C=
c.*657+5C= (n.*657+5C=)
n.4300+5C=
n.2901+5C=
c.3412+5C= (n.3412+5C=)
c.3460+5C= (n.3460+5C=)
c.3520+5C= (n.3520+5C=)
c.3070+5C= (n.3070+5C=)
c.1372+5C= (n.1372+5C=)
c.1189+5C= (n.1189+5C=)
c.3421+5C= (n.3421+5C=)
c.3373+5C= (n.3373+5C=)
c.3142+5C= (n.3142+5C=)
c.3043+5C= (n.3043+5C=)
c.2224+5C= (n.2224+5C=)
n.3775+5C=
13g.51941078T>CCA6988662ATP7Bc.*1206+3A>G (n.*1206+3A>G)
c.*2300+3A>G (n.*2300+3A>G)
c.2935+3A>G (n.2935+3A>G)
c.3556+3A>G (n.3556+3A>G)
c.3223+3A>G (n.3223+3A>G)
c.3304+3A>G (n.3304+3A>G)
c.3322+3A>G (n.3322+3A>G)
n.3695+3A>G
n.3922A>G
c.2491+3A>G (n.2491+3A>G)
c.2266+3A>G (n.2266+3A>G)
c.3361+3A>G (n.3361+3A>G)
c.1334+3A>G
c.*657+3A>G (n.*657+3A>G)
n.4300+3A>G
n.2901+3A>G
c.3412+3A>G (n.3412+3A>G)
c.3460+3A>G (n.3460+3A>G)
c.3520+3A>G (n.3520+3A>G)
c.3070+3A>G (n.3070+3A>G)
c.1372+3A>G (n.1372+3A>G)
c.1189+3A>G (n.1189+3A>G)
c.3421+3A>G (n.3421+3A>G)
c.3373+3A>G (n.3373+3A>G)
c.3142+3A>G (n.3142+3A>G)
c.3043+3A>G (n.3043+3A>G)
c.2224+3A>G (n.2224+3A>G)
n.3775+3A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51941078T=CA2091559261ATP7Bc.*1206+3A= (n.*1206+3A=)
c.*2300+3A= (n.*2300+3A=)
c.2935+3A= (n.2935+3A=)
c.3556+3A= (n.3556+3A=)
c.3223+3A= (n.3223+3A=)
c.3304+3A= (n.3304+3A=)
c.3322+3A= (n.3322+3A=)
n.3695+3A=
n.3922A=
c.2491+3A= (n.2491+3A=)
c.2266+3A= (n.2266+3A=)
c.3361+3A= (n.3361+3A=)
c.1334+3A=
c.*657+3A= (n.*657+3A=)
n.4300+3A=
n.2901+3A=
c.3412+3A= (n.3412+3A=)
c.3460+3A= (n.3460+3A=)
c.3520+3A= (n.3520+3A=)
c.3070+3A= (n.3070+3A=)
c.1372+3A= (n.1372+3A=)
c.1189+3A= (n.1189+3A=)
c.3421+3A= (n.3421+3A=)
c.3373+3A= (n.3373+3A=)
c.3142+3A= (n.3142+3A=)
c.3043+3A= (n.3043+3A=)
c.2224+3A= (n.2224+3A=)
n.3775+3A=
13g.51941079A>CCA388025812ATP7Bc.*1206+2T>G (n.*1206+2T>G)
c.*2300+2T>G (n.*2300+2T>G)
c.2935+2T>G (n.2935+2T>G)
c.3556+2T>G (n.3556+2T>G)
c.3223+2T>G (n.3223+2T>G)
c.3304+2T>G (n.3304+2T>G)
c.3322+2T>G (n.3322+2T>G)
n.3695+2T>G
n.3921T>G
c.2491+2T>G (n.2491+2T>G)
c.2266+2T>G (n.2266+2T>G)
c.3361+2T>G (n.3361+2T>G)
c.1334+2T>G
c.*657+2T>G (n.*657+2T>G)
n.4300+2T>G
n.2901+2T>G
c.3412+2T>G (n.3412+2T>G)
c.3460+2T>G (n.3460+2T>G)
c.3520+2T>G (n.3520+2T>G)
c.3070+2T>G (n.3070+2T>G)
c.1372+2T>G (n.1372+2T>G)
c.1189+2T>G (n.1189+2T>G)
c.3421+2T>G (n.3421+2T>G)
c.3373+2T>G (n.3373+2T>G)
c.3142+2T>G (n.3142+2T>G)
c.3043+2T>G (n.3043+2T>G)
c.2224+2T>G (n.2224+2T>G)
n.3775+2T>G
13g.51941079A>GCA388025821ATP7Bc.*1206+2T>C (n.*1206+2T>C)
c.*2300+2T>C (n.*2300+2T>C)
c.2935+2T>C (n.2935+2T>C)
c.3556+2T>C (n.3556+2T>C)
c.3223+2T>C (n.3223+2T>C)
c.3304+2T>C (n.3304+2T>C)
c.3322+2T>C (n.3322+2T>C)
n.3695+2T>C
n.3921T>C
c.2491+2T>C (n.2491+2T>C)
c.2266+2T>C (n.2266+2T>C)
c.3361+2T>C (n.3361+2T>C)
c.1334+2T>C
c.*657+2T>C (n.*657+2T>C)
n.4300+2T>C
n.2901+2T>C
c.3412+2T>C (n.3412+2T>C)
c.3460+2T>C (n.3460+2T>C)
c.3520+2T>C (n.3520+2T>C)
c.3070+2T>C (n.3070+2T>C)
c.1372+2T>C (n.1372+2T>C)
c.1189+2T>C (n.1189+2T>C)
c.3421+2T>C (n.3421+2T>C)
c.3373+2T>C (n.3373+2T>C)
c.3142+2T>C (n.3142+2T>C)
c.3043+2T>C (n.3043+2T>C)
c.2224+2T>C (n.2224+2T>C)
n.3775+2T>C
13g.51941079A>TCA388025824ATP7Bc.*1206+2T>A (n.*1206+2T>A)
c.*2300+2T>A (n.*2300+2T>A)
c.2935+2T>A (n.2935+2T>A)
c.3556+2T>A (n.3556+2T>A)
c.3223+2T>A (n.3223+2T>A)
c.3304+2T>A (n.3304+2T>A)
c.3322+2T>A (n.3322+2T>A)
n.3695+2T>A
n.3921T>A
c.2491+2T>A (n.2491+2T>A)
c.2266+2T>A (n.2266+2T>A)
c.3361+2T>A (n.3361+2T>A)
c.1334+2T>A
c.*657+2T>A (n.*657+2T>A)
n.4300+2T>A
n.2901+2T>A
c.3412+2T>A (n.3412+2T>A)
c.3460+2T>A (n.3460+2T>A)
c.3520+2T>A (n.3520+2T>A)
c.3070+2T>A (n.3070+2T>A)
c.1372+2T>A (n.1372+2T>A)
c.1189+2T>A (n.1189+2T>A)
c.3421+2T>A (n.3421+2T>A)
c.3373+2T>A (n.3373+2T>A)
c.3142+2T>A (n.3142+2T>A)
c.3043+2T>A (n.3043+2T>A)
c.2224+2T>A (n.2224+2T>A)
n.3775+2T>A
13g.51941079_51941081delinsACCCA2091559265ATP7Bc.*1206_*1206+2delinsGGT
c.*2300_*2300+2delinsGGT
c.2935_2935+2delinsGGT
c.3556_3556+2delinsGGT
c.3223_3223+2delinsGGT
c.3304_3304+2delinsGGT
c.3322_3322+2delinsGGT
n.3695_3695+2delinsGGT
n.3919_3921delinsGGT
c.2491_2491+2delinsGGT
c.2266_2266+2delinsGGT
c.3361_3361+2delinsGGT
c.1334_1334+2delinsGGT
c.*657_*657+2delinsGGT
n.4300_4300+2delinsGGT
n.2901_2901+2delinsGGT
c.3412_3412+2delinsGGT
c.3460_3460+2delinsGGT
c.3520_3520+2delinsGGT
c.3070_3070+2delinsGGT
c.1372_1372+2delinsGGT
c.1189_1189+2delinsGGT
c.3421_3421+2delinsGGT
c.3373_3373+2delinsGGT
c.3142_3142+2delinsGGT
c.3043_3043+2delinsGGT
c.2224_2224+2delinsGGT
n.3775_3775+2delinsGGT
13g.51941080C>ACA388025828ATP7Bc.*1206+1G>T (n.*1206+1G>T)
c.*2300+1G>T (n.*2300+1G>T)
c.2935+1G>T (n.2935+1G>T)
c.3556+1G>T (n.3556+1G>T)
c.3223+1G>T (n.3223+1G>T)
c.3304+1G>T (n.3304+1G>T)
c.3322+1G>T (n.3322+1G>T)
n.3695+1G>T
n.3920G>T
c.2491+1G>T (n.2491+1G>T)
c.2266+1G>T (n.2266+1G>T)
c.3361+1G>T (n.3361+1G>T)
c.1334+1G>T
c.*657+1G>T (n.*657+1G>T)
n.4300+1G>T
n.2901+1G>T
c.3412+1G>T (n.3412+1G>T)
c.3460+1G>T (n.3460+1G>T)
c.3520+1G>T (n.3520+1G>T)
c.3070+1G>T (n.3070+1G>T)
c.1372+1G>T (n.1372+1G>T)
c.1189+1G>T (n.1189+1G>T)
c.3421+1G>T (n.3421+1G>T)
c.3373+1G>T (n.3373+1G>T)
c.3142+1G>T (n.3142+1G>T)
c.3043+1G>T (n.3043+1G>T)
c.2224+1G>T (n.2224+1G>T)
n.3775+1G>T
 ClinVar dbSNP gnomAD v4 COSMIC
13g.51941080C=CA2091559273ATP7Bc.*1206+1G= (n.*1206+1G=)
c.*2300+1G= (n.*2300+1G=)
c.2935+1G= (n.2935+1G=)
c.3556+1G= (n.3556+1G=)
c.3223+1G= (n.3223+1G=)
c.3304+1G= (n.3304+1G=)
c.3322+1G= (n.3322+1G=)
n.3695+1G=
n.3920G=
c.2491+1G= (n.2491+1G=)
c.2266+1G= (n.2266+1G=)
c.3361+1G= (n.3361+1G=)
c.1334+1G=
c.*657+1G= (n.*657+1G=)
n.4300+1G=
n.2901+1G=
c.3412+1G= (n.3412+1G=)
c.3460+1G= (n.3460+1G=)
c.3520+1G= (n.3520+1G=)
c.3070+1G= (n.3070+1G=)
c.1372+1G= (n.1372+1G=)
c.1189+1G= (n.1189+1G=)
c.3421+1G= (n.3421+1G=)
c.3373+1G= (n.3373+1G=)
c.3142+1G= (n.3142+1G=)
c.3043+1G= (n.3043+1G=)
c.2224+1G= (n.2224+1G=)
n.3775+1G=
13g.51941080C>GCA388025832ATP7Bc.*1206+1G>C (n.*1206+1G>C)
c.*2300+1G>C (n.*2300+1G>C)
c.2935+1G>C (n.2935+1G>C)
c.3556+1G>C (n.3556+1G>C)
c.3223+1G>C (n.3223+1G>C)
c.3304+1G>C (n.3304+1G>C)
c.3322+1G>C (n.3322+1G>C)
n.3695+1G>C
n.3920G>C
c.2491+1G>C (n.2491+1G>C)
c.2266+1G>C (n.2266+1G>C)
c.3361+1G>C (n.3361+1G>C)
c.1334+1G>C
c.*657+1G>C (n.*657+1G>C)
n.4300+1G>C
n.2901+1G>C
c.3412+1G>C (n.3412+1G>C)
c.3460+1G>C (n.3460+1G>C)
c.3520+1G>C (n.3520+1G>C)
c.3070+1G>C (n.3070+1G>C)
c.1372+1G>C (n.1372+1G>C)
c.1189+1G>C (n.1189+1G>C)
c.3421+1G>C (n.3421+1G>C)
c.3373+1G>C (n.3373+1G>C)
c.3142+1G>C (n.3142+1G>C)
c.3043+1G>C (n.3043+1G>C)
c.2224+1G>C (n.2224+1G>C)
n.3775+1G>C
13g.51941080C>TCA274325ATP7Bc.*1206+1G>A (n.*1206+1G>A)
c.*2300+1G>A (n.*2300+1G>A)
c.2935+1G>A (n.2935+1G>A)
c.3556+1G>A (n.3556+1G>A)
c.3223+1G>A (n.3223+1G>A)
c.3304+1G>A (n.3304+1G>A)
c.3322+1G>A (n.3322+1G>A)
n.3695+1G>A
n.3920G>A
c.2491+1G>A (n.2491+1G>A)
c.2266+1G>A (n.2266+1G>A)
c.3361+1G>A (n.3361+1G>A)
c.1334+1G>A
c.*657+1G>A (n.*657+1G>A)
n.4300+1G>A
n.2901+1G>A
c.3412+1G>A (n.3412+1G>A)
c.3460+1G>A (n.3460+1G>A)
c.3520+1G>A (n.3520+1G>A)
c.3070+1G>A (n.3070+1G>A)
c.1372+1G>A (n.1372+1G>A)
c.1189+1G>A (n.1189+1G>A)
c.3421+1G>A (n.3421+1G>A)
c.3373+1G>A (n.3373+1G>A)
c.3142+1G>A (n.3142+1G>A)
c.3043+1G>A (n.3043+1G>A)
c.2224+1G>A (n.2224+1G>A)
n.3775+1G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941080_51941081delCA6988663ATP7Bc.*1206_*1206+1del
c.*2300_*2300+1del
c.2935_2935+1del
c.3556_3556+1del
c.3223_3223+1del
c.3304_3304+1del
c.3322_3322+1del
n.3695_3695+1del
n.3919_3920del
c.2491_2491+1del
c.2266_2266+1del
c.3361_3361+1del
c.1334_1334+1del
c.*657_*657+1del
n.4300_4300+1del
n.2901_2901+1del
c.3412_3412+1del
c.3460_3460+1del
c.3520_3520+1del
c.3070_3070+1del
c.1372_1372+1del
c.1189_1189+1del
c.3421_3421+1del
c.3373_3373+1del
c.3142_3142+1del
c.3043_3043+1del
c.2224_2224+1del
n.3775_3775+1del
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51941081C>ACA388025849ATP7Bc.*1206G>T (n.*1206G>T)
c.*2300G>T (n.*2300G>T)
c.2935G>T (p.Gly979Cys)
c.3556G>T (p.Gly1186Cys)
c.3223G>T (p.Gly1075Cys)
c.3304G>T (p.Gly1102Cys)
c.3322G>T (p.Gly1108Cys)
n.3695G>T
n.3919G>T
c.2491G>T (p.Gly831Cys)
c.2266G>T (p.Gly756Cys)
c.3361G>T (p.Gly1121Cys)
c.1334G>T
c.*657G>T (n.*657G>T)
n.4300G>T
n.2901G>T
c.3412G>T (p.Gly1138Cys)
c.3460G>T (p.Gly1154Cys)
c.3520G>T (p.Gly1174Cys)
c.3070G>T (p.Gly1024Cys)
c.1372G>T (p.Gly458Cys)
c.1189G>T (p.Gly397Cys)
c.3421G>T (p.Gly1141Cys)
c.3373G>T (p.Gly1125Cys)
c.3142G>T (p.Gly1048Cys)
c.3043G>T (p.Gly1015Cys)
c.2224G>T (p.Gly742Cys)
n.3775G>T
 gnomAD v4
13g.51941081C=CA2091559283ATP7Bc.*1206G= (n.*1206G=)
c.*2300G= (n.*2300G=)
c.2935G= (p.Gly979=)
c.3556G= (p.Gly1186=)
c.3223G= (p.Gly1075=)
c.3304G= (p.Gly1102=)
c.3322G= (p.Gly1108=)
n.3695G=
n.3919G=
c.2491G= (p.Gly831=)
c.2266G= (p.Gly756=)
c.3361G= (p.Gly1121=)
c.1334G=
c.*657G= (n.*657G=)
n.4300G=
n.2901G=
c.3412G= (p.Gly1138=)
c.3460G= (p.Gly1154=)
c.3520G= (p.Gly1174=)
c.3070G= (p.Gly1024=)
c.1372G= (p.Gly458=)
c.1189G= (p.Gly397=)
c.3421G= (p.Gly1141=)
c.3373G= (p.Gly1125=)
c.3142G= (p.Gly1048=)
c.3043G= (p.Gly1015=)
c.2224G= (p.Gly742=)
n.3775G=
13g.51941081C>GCA388025845ATP7Bc.*1206G>C (n.*1206G>C)
c.*2300G>C (n.*2300G>C)
c.2935G>C (p.Gly979Arg)
c.3556G>C (p.Gly1186Arg)
c.3223G>C (p.Gly1075Arg)
c.3304G>C (p.Gly1102Arg)
c.3322G>C (p.Gly1108Arg)
n.3695G>C
n.3919G>C
c.2491G>C (p.Gly831Arg)
c.2266G>C (p.Gly756Arg)
c.3361G>C (p.Gly1121Arg)
c.1334G>C
c.*657G>C (n.*657G>C)
n.4300G>C
n.2901G>C
c.3412G>C (p.Gly1138Arg)
c.3460G>C (p.Gly1154Arg)
c.3520G>C (p.Gly1174Arg)
c.3070G>C (p.Gly1024Arg)
c.1372G>C (p.Gly458Arg)
c.1189G>C (p.Gly397Arg)
c.3421G>C (p.Gly1141Arg)
c.3373G>C (p.Gly1125Arg)
c.3142G>C (p.Gly1048Arg)
c.3043G>C (p.Gly1015Arg)
c.2224G>C (p.Gly742Arg)
n.3775G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51941081C>TCA274098ATP7Bc.*1206G>A (n.*1206G>A)
c.*2300G>A (n.*2300G>A)
c.2935G>A (p.Gly979Ser)
c.3556G>A (p.Gly1186Ser)
c.3223G>A (p.Gly1075Ser)
c.3304G>A (p.Gly1102Ser)
c.3322G>A (p.Gly1108Ser)
n.3695G>A
n.3919G>A
c.2491G>A (p.Gly831Ser)
c.2266G>A (p.Gly756Ser)
c.3361G>A (p.Gly1121Ser)
c.1334G>A
c.*657G>A (n.*657G>A)
n.4300G>A
n.2901G>A
c.3412G>A (p.Gly1138Ser)
c.3460G>A (p.Gly1154Ser)
c.3520G>A (p.Gly1174Ser)
c.3070G>A (p.Gly1024Ser)
c.1372G>A (p.Gly458Ser)
c.1189G>A (p.Gly397Ser)
c.3421G>A (p.Gly1141Ser)
c.3373G>A (p.Gly1125Ser)
c.3142G>A (p.Gly1048Ser)
c.3043G>A (p.Gly1015Ser)
c.2224G>A (p.Gly742Ser)
n.3775G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51941082G>ACA6988664ATP7Bc.*1205C>T (n.*1205C>T)
c.*2299C>T (n.*2299C>T)
c.2934C>T (p.Asp978=)
c.3555C>T (p.Asp1185=)
c.3222C>T (p.Asp1074=)
c.3303C>T (p.Asp1101=)
c.3321C>T (p.Asp1107=)
n.3694C>T
n.3918C>T
c.2490C>T (p.Asp830=)
c.2265C>T (p.Asp755=)
c.3360C>T (p.Asp1120=)
c.1333C>T
c.*656C>T (n.*656C>T)
n.4299C>T
n.2900C>T
c.3411C>T (p.Asp1137=)
c.3459C>T (p.Asp1153=)
c.3519C>T (p.Asp1173=)
c.3069C>T (p.Asp1023=)
c.1371C>T (p.Asp457=)
c.1188C>T (p.Asp396=)
c.3420C>T (p.Asp1140=)
c.3372C>T (p.Asp1124=)
c.3141C>T (p.Asp1047=)
c.3042C>T (p.Asp1014=)
c.2223C>T (p.Asp741=)
n.3774C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51941082G>CCA388025855ATP7Bc.*1205C>G (n.*1205C>G)
c.*2299C>G (n.*2299C>G)
c.2934C>G (p.Asp978Glu)
c.3555C>G (p.Asp1185Glu)
c.3222C>G (p.Asp1074Glu)
c.3303C>G (p.Asp1101Glu)
c.3321C>G (p.Asp1107Glu)
n.3694C>G
n.3918C>G
c.2490C>G (p.Asp830Glu)
c.2265C>G (p.Asp755Glu)
c.3360C>G (p.Asp1120Glu)
c.1333C>G
c.*656C>G (n.*656C>G)
n.4299C>G
n.2900C>G
c.3411C>G (p.Asp1137Glu)
c.3459C>G (p.Asp1153Glu)
c.3519C>G (p.Asp1173Glu)
c.3069C>G (p.Asp1023Glu)
c.1371C>G (p.Asp457Glu)
c.1188C>G (p.Asp396Glu)
c.3420C>G (p.Asp1140Glu)
c.3372C>G (p.Asp1124Glu)
c.3141C>G (p.Asp1047Glu)
c.3042C>G (p.Asp1014Glu)
c.2223C>G (p.Asp741Glu)
n.3774C>G
13g.51941082G=CA2091559290ATP7Bc.*1205C= (n.*1205C=)
c.*2299C= (n.*2299C=)
c.2934C= (p.Asp978=)
c.3555C= (p.Asp1185=)
c.3222C= (p.Asp1074=)
c.3303C= (p.Asp1101=)
c.3321C= (p.Asp1107=)
n.3694C=
n.3918C=
c.2490C= (p.Asp830=)
c.2265C= (p.Asp755=)
c.3360C= (p.Asp1120=)
c.1333C=
c.*656C= (n.*656C=)
n.4299C=
n.2900C=
c.3411C= (p.Asp1137=)
c.3459C= (p.Asp1153=)
c.3519C= (p.Asp1173=)
c.3069C= (p.Asp1023=)
c.1371C= (p.Asp457=)
c.1188C= (p.Asp396=)
c.3420C= (p.Asp1140=)
c.3372C= (p.Asp1124=)
c.3141C= (p.Asp1047=)
c.3042C= (p.Asp1014=)
c.2223C= (p.Asp741=)
n.3774C=
13g.51941082G>TCA388025857ATP7Bc.*1205C>A (n.*1205C>A)
c.*2299C>A (n.*2299C>A)
c.2934C>A (p.Asp978Glu)
c.3555C>A (p.Asp1185Glu)
c.3222C>A (p.Asp1074Glu)
c.3303C>A (p.Asp1101Glu)
c.3321C>A (p.Asp1107Glu)
n.3694C>A
n.3918C>A
c.2490C>A (p.Asp830Glu)
c.2265C>A (p.Asp755Glu)
c.3360C>A (p.Asp1120Glu)
c.1333C>A
c.*656C>A (n.*656C>A)
n.4299C>A
n.2900C>A
c.3411C>A (p.Asp1137Glu)
c.3459C>A (p.Asp1153Glu)
c.3519C>A (p.Asp1173Glu)
c.3069C>A (p.Asp1023Glu)
c.1371C>A (p.Asp457Glu)
c.1188C>A (p.Asp396Glu)
c.3420C>A (p.Asp1140Glu)
c.3372C>A (p.Asp1124Glu)
c.3141C>A (p.Asp1047Glu)
c.3042C>A (p.Asp1014Glu)
c.2223C>A (p.Asp741Glu)
n.3774C>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
13g.51941083T>ACA388025863ATP7Bc.*1204A>T (n.*1204A>T)
c.*2298A>T (n.*2298A>T)
c.2933A>T (p.Asp978Val)
c.3554A>T (p.Asp1185Val)
c.3221A>T (p.Asp1074Val)
c.3302A>T (p.Asp1101Val)
c.3320A>T (p.Asp1107Val)
n.3693A>T
n.3917A>T
c.2489A>T (p.Asp830Val)
c.2264A>T (p.Asp755Val)
c.3359A>T (p.Asp1120Val)
c.1332A>T
c.*655A>T (n.*655A>T)
n.4298A>T
n.2899A>T
c.3410A>T (p.Asp1137Val)
c.3458A>T (p.Asp1153Val)
c.3518A>T (p.Asp1173Val)
c.3068A>T (p.Asp1023Val)
c.1370A>T (p.Asp457Val)
c.1187A>T (p.Asp396Val)
c.3419A>T (p.Asp1140Val)
c.3371A>T (p.Asp1124Val)
c.3140A>T (p.Asp1047Val)
c.3041A>T (p.Asp1014Val)
c.2222A>T (p.Asp741Val)
n.3773A>T
13g.51941083T>CCA388025866ATP7Bc.*1204A>G (n.*1204A>G)
c.*2298A>G (n.*2298A>G)
c.2933A>G (p.Asp978Gly)
c.3554A>G (p.Asp1185Gly)
c.3221A>G (p.Asp1074Gly)
c.3302A>G (p.Asp1101Gly)
c.3320A>G (p.Asp1107Gly)
n.3693A>G
n.3917A>G
c.2489A>G (p.Asp830Gly)
c.2264A>G (p.Asp755Gly)
c.3359A>G (p.Asp1120Gly)
c.1332A>G
c.*655A>G (n.*655A>G)
n.4298A>G
n.2899A>G
c.3410A>G (p.Asp1137Gly)
c.3458A>G (p.Asp1153Gly)
c.3518A>G (p.Asp1173Gly)
c.3068A>G (p.Asp1023Gly)
c.1370A>G (p.Asp457Gly)
c.1187A>G (p.Asp396Gly)
c.3419A>G (p.Asp1140Gly)
c.3371A>G (p.Asp1124Gly)
c.3140A>G (p.Asp1047Gly)
c.3041A>G (p.Asp1014Gly)
c.2222A>G (p.Asp741Gly)
n.3773A>G
13g.51941083T>GCA388025870ATP7Bc.*1204A>C (n.*1204A>C)
c.*2298A>C (n.*2298A>C)
c.2933A>C (p.Asp978Ala)
c.3554A>C (p.Asp1185Ala)
c.3221A>C (p.Asp1074Ala)
c.3302A>C (p.Asp1101Ala)
c.3320A>C (p.Asp1107Ala)
n.3693A>C
n.3917A>C
c.2489A>C (p.Asp830Ala)
c.2264A>C (p.Asp755Ala)
c.3359A>C (p.Asp1120Ala)
c.1332A>C
c.*655A>C (n.*655A>C)
n.4298A>C
n.2899A>C
c.3410A>C (p.Asp1137Ala)
c.3458A>C (p.Asp1153Ala)
c.3518A>C (p.Asp1173Ala)
c.3068A>C (p.Asp1023Ala)
c.1370A>C (p.Asp457Ala)
c.1187A>C (p.Asp396Ala)
c.3419A>C (p.Asp1140Ala)
c.3371A>C (p.Asp1124Ala)
c.3140A>C (p.Asp1047Ala)
c.3041A>C (p.Asp1014Ala)
c.2222A>C (p.Asp741Ala)
n.3773A>C
13g.51941084C>ACA388025872ATP7Bc.*1203G>T (n.*1203G>T)
c.*2297G>T (n.*2297G>T)
c.2932G>T (p.Asp978Tyr)
c.3553G>T (p.Asp1185Tyr)
c.3220G>T (p.Asp1074Tyr)
c.3301G>T (p.Asp1101Tyr)
c.3319G>T (p.Asp1107Tyr)
n.3692G>T
n.3916G>T
c.2488G>T (p.Asp830Tyr)
c.2263G>T (p.Asp755Tyr)
c.3358G>T (p.Asp1120Tyr)
c.1331G>T
c.*654G>T (n.*654G>T)
n.4297G>T
n.2898G>T
c.3409G>T (p.Asp1137Tyr)
c.3457G>T (p.Asp1153Tyr)
c.3517G>T (p.Asp1173Tyr)
c.3067G>T (p.Asp1023Tyr)
c.1369G>T (p.Asp457Tyr)
c.1186G>T (p.Asp396Tyr)
c.3418G>T (p.Asp1140Tyr)
c.3370G>T (p.Asp1124Tyr)
c.3139G>T (p.Asp1047Tyr)
c.3040G>T (p.Asp1014Tyr)
c.2221G>T (p.Asp741Tyr)
n.3772G>T
13g.51941084C=CA2091559296ATP7Bc.*1203G= (n.*1203G=)
c.*2297G= (n.*2297G=)
c.2932G= (p.Asp978=)
c.3553G= (p.Asp1185=)
c.3220G= (p.Asp1074=)
c.3301G= (p.Asp1101=)
c.3319G= (p.Asp1107=)
n.3692G=
n.3916G=
c.2488G= (p.Asp830=)
c.2263G= (p.Asp755=)
c.3358G= (p.Asp1120=)
c.1331G=
c.*654G= (n.*654G=)
n.4297G=
n.2898G=
c.3409G= (p.Asp1137=)
c.3457G= (p.Asp1153=)
c.3517G= (p.Asp1173=)
c.3067G= (p.Asp1023=)
c.1369G= (p.Asp457=)
c.1186G= (p.Asp396=)
c.3418G= (p.Asp1140=)
c.3370G= (p.Asp1124=)
c.3139G= (p.Asp1047=)
c.3040G= (p.Asp1014=)
c.2221G= (p.Asp741=)
n.3772G=
13g.51941084C>GCA388025875ATP7Bc.*1203G>C (n.*1203G>C)
c.*2297G>C (n.*2297G>C)
c.2932G>C (p.Asp978His)
c.3553G>C (p.Asp1185His)
c.3220G>C (p.Asp1074His)
c.3301G>C (p.Asp1101His)
c.3319G>C (p.Asp1107His)
n.3692G>C
n.3916G>C
c.2488G>C (p.Asp830His)
c.2263G>C (p.Asp755His)
c.3358G>C (p.Asp1120His)
c.1331G>C
c.*654G>C (n.*654G>C)
n.4297G>C
n.2898G>C
c.3409G>C (p.Asp1137His)
c.3457G>C (p.Asp1153His)
c.3517G>C (p.Asp1173His)
c.3067G>C (p.Asp1023His)
c.1369G>C (p.Asp457His)
c.1186G>C (p.Asp396His)
c.3418G>C (p.Asp1140His)
c.3370G>C (p.Asp1124His)
c.3139G>C (p.Asp1047His)
c.3040G>C (p.Asp1014His)
c.2221G>C (p.Asp741His)
n.3772G>C
13g.51941084C>TCA388025878ATP7Bc.*1203G>A (n.*1203G>A)
c.*2297G>A (n.*2297G>A)
c.2932G>A (p.Asp978Asn)
c.3553G>A (p.Asp1185Asn)
c.3220G>A (p.Asp1074Asn)
c.3301G>A (p.Asp1101Asn)
c.3319G>A (p.Asp1107Asn)
n.3692G>A
n.3916G>A
c.2488G>A (p.Asp830Asn)
c.2263G>A (p.Asp755Asn)
c.3358G>A (p.Asp1120Asn)
c.1331G>A
c.*654G>A (n.*654G>A)
n.4297G>A
n.2898G>A
c.3409G>A (p.Asp1137Asn)
c.3457G>A (p.Asp1153Asn)
c.3517G>A (p.Asp1173Asn)
c.3067G>A (p.Asp1023Asn)
c.1369G>A (p.Asp457Asn)
c.1186G>A (p.Asp396Asn)
c.3418G>A (p.Asp1140Asn)
c.3370G>A (p.Asp1124Asn)
c.3139G>A (p.Asp1047Asn)
c.3040G>A (p.Asp1014Asn)
c.2221G>A (p.Asp741Asn)
n.3772G>A
13g.51941085A>CCA388025899ATP7Bc.*1202T>G (n.*1202T>G)
c.*2296T>G (n.*2296T>G)
c.2931T>G (p.Ile977Met)
c.3552T>G (p.Ile1184Met)
c.3219T>G (p.Ile1073Met)
c.3300T>G (p.Ile1100Met)
c.3318T>G (p.Ile1106Met)
n.3691T>G
n.3915T>G
c.2487T>G (p.Ile829Met)
c.2262T>G (p.Ile754Met)
c.3357T>G (p.Ile1119Met)
c.1330T>G
c.*653T>G (n.*653T>G)
n.4296T>G
n.2897T>G
c.3408T>G (p.Ile1136Met)
c.3456T>G (p.Ile1152Met)
c.3516T>G (p.Ile1172Met)
c.3066T>G (p.Ile1022Met)
c.1368T>G (p.Ile456Met)
c.1185T>G (p.Ile395Met)
c.3417T>G (p.Ile1139Met)
c.3369T>G (p.Ile1123Met)
c.3138T>G (p.Ile1046Met)
c.3039T>G (p.Ile1013Met)
c.2220T>G (p.Ile740Met)
n.3771T>G
13g.51941085A>GCA483893922ATP7Bc.*1202T>C (n.*1202T>C)
c.*2296T>C (n.*2296T>C)
c.2931T>C (p.Ile977=)
c.3552T>C (p.Ile1184=)
c.3219T>C (p.Ile1073=)
c.3300T>C (p.Ile1100=)
c.3318T>C (p.Ile1106=)
n.3691T>C
n.3915T>C
c.2487T>C (p.Ile829=)
c.2262T>C (p.Ile754=)
c.3357T>C (p.Ile1119=)
c.1330T>C
c.*653T>C (n.*653T>C)
n.4296T>C
n.2897T>C
c.3408T>C (p.Ile1136=)
c.3456T>C (p.Ile1152=)
c.3516T>C (p.Ile1172=)
c.3066T>C (p.Ile1022=)
c.1368T>C (p.Ile456=)
c.1185T>C (p.Ile395=)
c.3417T>C (p.Ile1139=)
c.3369T>C (p.Ile1123=)
c.3138T>C (p.Ile1046=)
c.3039T>C (p.Ile1013=)
c.2220T>C (p.Ile740=)
n.3771T>C
13g.51941085A>TCA483893921ATP7Bc.*1202T>A (n.*1202T>A)
c.*2296T>A (n.*2296T>A)
c.2931T>A (p.Ile977=)
c.3552T>A (p.Ile1184=)
c.3219T>A (p.Ile1073=)
c.3300T>A (p.Ile1100=)
c.3318T>A (p.Ile1106=)
n.3691T>A
n.3915T>A
c.2487T>A (p.Ile829=)
c.2262T>A (p.Ile754=)
c.3357T>A (p.Ile1119=)
c.1330T>A
c.*653T>A (n.*653T>A)
n.4296T>A
n.2897T>A
c.3408T>A (p.Ile1136=)
c.3456T>A (p.Ile1152=)
c.3516T>A (p.Ile1172=)
c.3066T>A (p.Ile1022=)
c.1368T>A (p.Ile456=)
c.1185T>A (p.Ile395=)
c.3417T>A (p.Ile1139=)
c.3369T>A (p.Ile1123=)
c.3138T>A (p.Ile1046=)
c.3039T>A (p.Ile1013=)
c.2220T>A (p.Ile740=)
n.3771T>A
 gnomAD v4
13g.51941086dupCA274387ATP7Bc.*1202dup (n.*1202dup)
c.*2296dup (n.*2296dup)
c.2931dup (p.Asp978Ter)
c.3552dup (p.Asp1185Ter)
c.3219dup (p.Asp1074Ter)
c.3300dup (p.Asp1101Ter)
c.3318dup (p.Asp1107Ter)
n.3691dup
n.3915dup
c.2487dup (p.Asp830Ter)
c.2262dup (p.Asp755Ter)
c.3357dup (p.Asp1120Ter)
c.1330dup
c.*653dup (n.*653dup)
n.4296dup
n.2897dup
c.3408dup (p.Asp1137Ter)
c.3456dup (p.Asp1153Ter)
c.3516dup (p.Asp1173Ter)
c.3066dup (p.Asp1023Ter)
c.1368dup (p.Asp457Ter)
c.1185dup (p.Asp396Ter)
c.3417dup (p.Asp1140Ter)
c.3369dup (p.Asp1124Ter)
c.3138dup (p.Asp1047Ter)
c.3039dup (p.Asp1014Ter)
c.2220dup (p.Asp741Ter)
n.3771dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941086A=CA2091559308ATP7Bc.*1201T= (n.*1201T=)
c.*2295T= (n.*2295T=)
c.2930T= (p.Ile977=)
c.3551T= (p.Ile1184=)
c.3218T= (p.Ile1073=)
c.3299T= (p.Ile1100=)
c.3317T= (p.Ile1106=)
n.3690T=
n.3914T=
c.2486T= (p.Ile829=)
c.2261T= (p.Ile754=)
c.3356T= (p.Ile1119=)
c.1329T=
c.*652T= (n.*652T=)
n.4295T=
n.2896T=
c.3407T= (p.Ile1136=)
c.3455T= (p.Ile1152=)
c.3515T= (p.Ile1172=)
c.3065T= (p.Ile1022=)
c.1367T= (p.Ile456=)
c.1184T= (p.Ile395=)
c.3416T= (p.Ile1139=)
c.3368T= (p.Ile1123=)
c.3137T= (p.Ile1046=)
c.3038T= (p.Ile1013=)
c.2219T= (p.Ile740=)
n.3770T=
13g.51941086A>CCA388025907ATP7Bc.*1201T>G (n.*1201T>G)
c.*2295T>G (n.*2295T>G)
c.2930T>G (p.Ile977Ser)
c.3551T>G (p.Ile1184Ser)
c.3218T>G (p.Ile1073Ser)
c.3299T>G (p.Ile1100Ser)
c.3317T>G (p.Ile1106Ser)
n.3690T>G
n.3914T>G
c.2486T>G (p.Ile829Ser)
c.2261T>G (p.Ile754Ser)
c.3356T>G (p.Ile1119Ser)
c.1329T>G
c.*652T>G (n.*652T>G)
n.4295T>G
n.2896T>G
c.3407T>G (p.Ile1136Ser)
c.3455T>G (p.Ile1152Ser)
c.3515T>G (p.Ile1172Ser)
c.3065T>G (p.Ile1022Ser)
c.1367T>G (p.Ile456Ser)
c.1184T>G (p.Ile395Ser)
c.3416T>G (p.Ile1139Ser)
c.3368T>G (p.Ile1123Ser)
c.3137T>G (p.Ile1046Ser)
c.3038T>G (p.Ile1013Ser)
c.2219T>G (p.Ile740Ser)
n.3770T>G
13g.51941086A>GCA250077094ATP7Bc.*1201T>C (n.*1201T>C)
c.*2295T>C (n.*2295T>C)
c.2930T>C (p.Ile977Thr)
c.3551T>C (p.Ile1184Thr)
c.3218T>C (p.Ile1073Thr)
c.3299T>C (p.Ile1100Thr)
c.3317T>C (p.Ile1106Thr)
n.3690T>C
n.3914T>C
c.2486T>C (p.Ile829Thr)
c.2261T>C (p.Ile754Thr)
c.3356T>C (p.Ile1119Thr)
c.1329T>C
c.*652T>C (n.*652T>C)
n.4295T>C
n.2896T>C
c.3407T>C (p.Ile1136Thr)
c.3455T>C (p.Ile1152Thr)
c.3515T>C (p.Ile1172Thr)
c.3065T>C (p.Ile1022Thr)
c.1367T>C (p.Ile456Thr)
c.1184T>C (p.Ile395Thr)
c.3416T>C (p.Ile1139Thr)
c.3368T>C (p.Ile1123Thr)
c.3137T>C (p.Ile1046Thr)
c.3038T>C (p.Ile1013Thr)
c.2219T>C (p.Ile740Thr)
n.3770T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51941086A>TCA388025917ATP7Bc.*1201T>A (n.*1201T>A)
c.*2295T>A (n.*2295T>A)
c.2930T>A (p.Ile977Asn)
c.3551T>A (p.Ile1184Asn)
c.3218T>A (p.Ile1073Asn)
c.3299T>A (p.Ile1100Asn)
c.3317T>A (p.Ile1106Asn)
n.3690T>A
n.3914T>A
c.2486T>A (p.Ile829Asn)
c.2261T>A (p.Ile754Asn)
c.3356T>A (p.Ile1119Asn)
c.1329T>A
c.*652T>A (n.*652T>A)
n.4295T>A
n.2896T>A
c.3407T>A (p.Ile1136Asn)
c.3455T>A (p.Ile1152Asn)
c.3515T>A (p.Ile1172Asn)
c.3065T>A (p.Ile1022Asn)
c.1367T>A (p.Ile456Asn)
c.1184T>A (p.Ile395Asn)
c.3416T>A (p.Ile1139Asn)
c.3368T>A (p.Ile1123Asn)
c.3137T>A (p.Ile1046Asn)
c.3038T>A (p.Ile1013Asn)
c.2219T>A (p.Ile740Asn)
n.3770T>A
13g.51941086_51941094delinsGCAGACA2695199760ATP7Bc.*1193_*1201delinsTCTGC (n.*1193_*1201delinsTCTGC)
c.*2287_*2295delinsTCTGC (n.*2287_*2295delinsTCTGC)
c.2922_2930delinsTCTGC (p.Val975LeufsTer9)
c.3543_3551delinsTCTGC (p.Val1182LeufsTer9)
c.3210_3218delinsTCTGC (p.Val1071LeufsTer9)
c.3291_3299delinsTCTGC (p.Val1098LeufsTer9)
c.3309_3317delinsTCTGC (p.Val1104LeufsTer9)
n.3682_3690delinsTCTGC
n.3906_3914delinsTCTGC
c.2478_2486delinsTCTGC (p.Val827LeufsTer9)
c.2253_2261delinsTCTGC (p.Val752LeufsTer9)
c.3348_3356delinsTCTGC (p.Val1117LeufsTer9)
c.1321_1329delinsTCTGC
c.*644_*652delinsTCTGC (n.*644_*652delinsTCTGC)
n.4287_4295delinsTCTGC
n.2888_2896delinsTCTGC
c.3399_3407delinsTCTGC (p.Val1134LeufsTer9)
c.3447_3455delinsTCTGC (p.Val1150LeufsTer9)
c.3507_3515delinsTCTGC (p.Val1170LeufsTer9)
c.3057_3065delinsTCTGC (p.Val1020LeufsTer9)
c.1359_1367delinsTCTGC (p.Val454LeufsTer9)
c.1176_1184delinsTCTGC (p.Val393LeufsTer9)
c.3408_3416delinsTCTGC (p.Val1137LeufsTer9)
c.3360_3368delinsTCTGC (p.Val1121LeufsTer9)
c.3129_3137delinsTCTGC (p.Val1044LeufsTer9)
c.3030_3038delinsTCTGC (p.Val1011LeufsTer9)
c.2211_2219delinsTCTGC (p.Val738LeufsTer9)
n.3762_3770delinsTCTGC
 ClinVar
13g.51941087T>ACA388025934ATP7Bc.*1200A>T (n.*1200A>T)
c.*2294A>T (n.*2294A>T)
c.2929A>T (p.Ile977Phe)
c.3550A>T (p.Ile1184Phe)
c.3217A>T (p.Ile1073Phe)
c.3298A>T (p.Ile1100Phe)
c.3316A>T (p.Ile1106Phe)
n.3689A>T
n.3913A>T
c.2485A>T (p.Ile829Phe)
c.2260A>T (p.Ile754Phe)
c.3355A>T (p.Ile1119Phe)
c.1328A>T
c.*651A>T (n.*651A>T)
n.4294A>T
n.2895A>T
c.3406A>T (p.Ile1136Phe)
c.3454A>T (p.Ile1152Phe)
c.3514A>T (p.Ile1172Phe)
c.3064A>T (p.Ile1022Phe)
c.1366A>T (p.Ile456Phe)
c.1183A>T (p.Ile395Phe)
c.3415A>T (p.Ile1139Phe)
c.3367A>T (p.Ile1123Phe)
c.3136A>T (p.Ile1046Phe)
c.3037A>T (p.Ile1013Phe)
c.2218A>T (p.Ile740Phe)
n.3769A>T
13g.51941087T>CCA16043757ATP7Bc.*1200A>G (n.*1200A>G)
c.*2294A>G (n.*2294A>G)
c.2929A>G (p.Ile977Val)
c.3550A>G (p.Ile1184Val)
c.3217A>G (p.Ile1073Val)
c.3298A>G (p.Ile1100Val)
c.3316A>G (p.Ile1106Val)
n.3689A>G
n.3913A>G
c.2485A>G (p.Ile829Val)
c.2260A>G (p.Ile754Val)
c.3355A>G (p.Ile1119Val)
c.1328A>G
c.*651A>G (n.*651A>G)
n.4294A>G
n.2895A>G
c.3406A>G (p.Ile1136Val)
c.3454A>G (p.Ile1152Val)
c.3514A>G (p.Ile1172Val)
c.3064A>G (p.Ile1022Val)
c.1366A>G (p.Ile456Val)
c.1183A>G (p.Ile395Val)
c.3415A>G (p.Ile1139Val)
c.3367A>G (p.Ile1123Val)
c.3136A>G (p.Ile1046Val)
c.3037A>G (p.Ile1013Val)
c.2218A>G (p.Ile740Val)
n.3769A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51941087T>GCA388025926ATP7Bc.*1200A>C (n.*1200A>C)
c.*2294A>C (n.*2294A>C)
c.2929A>C (p.Ile977Leu)
c.3550A>C (p.Ile1184Leu)
c.3217A>C (p.Ile1073Leu)
c.3298A>C (p.Ile1100Leu)
c.3316A>C (p.Ile1106Leu)
n.3689A>C
n.3913A>C
c.2485A>C (p.Ile829Leu)
c.2260A>C (p.Ile754Leu)
c.3355A>C (p.Ile1119Leu)
c.1328A>C
c.*651A>C (n.*651A>C)
n.4294A>C
n.2895A>C
c.3406A>C (p.Ile1136Leu)
c.3454A>C (p.Ile1152Leu)
c.3514A>C (p.Ile1172Leu)
c.3064A>C (p.Ile1022Leu)
c.1366A>C (p.Ile456Leu)
c.1183A>C (p.Ile395Leu)
c.3415A>C (p.Ile1139Leu)
c.3367A>C (p.Ile1123Leu)
c.3136A>C (p.Ile1046Leu)
c.3037A>C (p.Ile1013Leu)
c.2218A>C (p.Ile740Leu)
n.3769A>C
13g.51941087T=CA2091559317ATP7Bc.*1200A= (n.*1200A=)
c.*2294A= (n.*2294A=)
c.2929A= (p.Ile977=)
c.3550A= (p.Ile1184=)
c.3217A= (p.Ile1073=)
c.3298A= (p.Ile1100=)
c.3316A= (p.Ile1106=)
n.3689A=
n.3913A=
c.2485A= (p.Ile829=)
c.2260A= (p.Ile754=)
c.3355A= (p.Ile1119=)
c.1328A=
c.*651A= (n.*651A=)
n.4294A=
n.2895A=
c.3406A= (p.Ile1136=)
c.3454A= (p.Ile1152=)
c.3514A= (p.Ile1172=)
c.3064A= (p.Ile1022=)
c.1366A= (p.Ile456=)
c.1183A= (p.Ile395=)
c.3415A= (p.Ile1139=)
c.3367A= (p.Ile1123=)
c.3136A= (p.Ile1046=)
c.3037A= (p.Ile1013=)
c.2218A= (p.Ile740=)
n.3769A=
13g.51941087dupCA2580614740ATP7Bc.*1200dup (n.*1200dup)
c.*2294dup (n.*2294dup)
c.2929dup (p.Ile977AsnfsTer2)
c.3550dup (p.Ile1184AsnfsTer2)
c.3217dup (p.Ile1073AsnfsTer2)
c.3298dup (p.Ile1100AsnfsTer2)
c.3316dup (p.Ile1106AsnfsTer2)
n.3689dup
n.3913dup
c.2485dup (p.Ile829AsnfsTer2)
c.2260dup (p.Ile754AsnfsTer2)
c.3355dup (p.Ile1119AsnfsTer2)
c.1328dup
c.*651dup (n.*651dup)
n.4294dup
n.2895dup
c.3406dup (p.Ile1136AsnfsTer2)
c.3454dup (p.Ile1152AsnfsTer2)
c.3514dup (p.Ile1172AsnfsTer2)
c.3064dup (p.Ile1022AsnfsTer2)
c.1366dup (p.Ile456AsnfsTer2)
c.1183dup (p.Ile395AsnfsTer2)
c.3415dup (p.Ile1139AsnfsTer2)
c.3367dup (p.Ile1123AsnfsTer2)
c.3136dup (p.Ile1046AsnfsTer2)
c.3037dup (p.Ile1013AsnfsTer2)
c.2218dup (p.Ile740AsnfsTer2)
n.3769dup
 ClinVar
13g.51941088A>CCA483893923ATP7Bc.*1199T>G (n.*1199T>G)
c.*2293T>G (n.*2293T>G)
c.2928T>G (p.Ala976=)
c.3549T>G (p.Ala1183=)
c.3216T>G (p.Ala1072=)
c.3297T>G (p.Ala1099=)
c.3315T>G (p.Ala1105=)
n.3688T>G
n.3912T>G
c.2484T>G (p.Ala828=)
c.2259T>G (p.Ala753=)
c.3354T>G (p.Ala1118=)
c.1327T>G
c.*650T>G (n.*650T>G)
n.4293T>G
n.2894T>G
c.3405T>G (p.Ala1135=)
c.3453T>G (p.Ala1151=)
c.3513T>G (p.Ala1171=)
c.3063T>G (p.Ala1021=)
c.1365T>G (p.Ala455=)
c.1182T>G (p.Ala394=)
c.3414T>G (p.Ala1138=)
c.3366T>G (p.Ala1122=)
c.3135T>G (p.Ala1045=)
c.3036T>G (p.Ala1012=)
c.2217T>G (p.Ala739=)
n.3768T>G
13g.51941088A>GCA483893924ATP7Bc.*1199T>C (n.*1199T>C)
c.*2293T>C (n.*2293T>C)
c.2928T>C (p.Ala976=)
c.3549T>C (p.Ala1183=)
c.3216T>C (p.Ala1072=)
c.3297T>C (p.Ala1099=)
c.3315T>C (p.Ala1105=)
n.3688T>C
n.3912T>C
c.2484T>C (p.Ala828=)
c.2259T>C (p.Ala753=)
c.3354T>C (p.Ala1118=)
c.1327T>C
c.*650T>C (n.*650T>C)
n.4293T>C
n.2894T>C
c.3405T>C (p.Ala1135=)
c.3453T>C (p.Ala1151=)
c.3513T>C (p.Ala1171=)
c.3063T>C (p.Ala1021=)
c.1365T>C (p.Ala455=)
c.1182T>C (p.Ala394=)
c.3414T>C (p.Ala1138=)
c.3366T>C (p.Ala1122=)
c.3135T>C (p.Ala1045=)
c.3036T>C (p.Ala1012=)
c.2217T>C (p.Ala739=)
n.3768T>C
13g.51941088A>TCA483893925ATP7Bc.*1199T>A (n.*1199T>A)
c.*2293T>A (n.*2293T>A)
c.2928T>A (p.Ala976=)
c.3549T>A (p.Ala1183=)
c.3216T>A (p.Ala1072=)
c.3297T>A (p.Ala1099=)
c.3315T>A (p.Ala1105=)
n.3688T>A
n.3912T>A
c.2484T>A (p.Ala828=)
c.2259T>A (p.Ala753=)
c.3354T>A (p.Ala1118=)
c.1327T>A
c.*650T>A (n.*650T>A)
n.4293T>A
n.2894T>A
c.3405T>A (p.Ala1135=)
c.3453T>A (p.Ala1151=)
c.3513T>A (p.Ala1171=)
c.3063T>A (p.Ala1021=)
c.1365T>A (p.Ala455=)
c.1182T>A (p.Ala394=)
c.3414T>A (p.Ala1138=)
c.3366T>A (p.Ala1122=)
c.3135T>A (p.Ala1045=)
c.3036T>A (p.Ala1012=)
c.2217T>A (p.Ala739=)
n.3768T>A
 gnomAD v4
13g.51941088_51941090delinsAGCCA2091559322ATP7Bc.*1197_*1199delinsGCT (n.*1197_*1199delinsGCT)
c.*2291_*2293delinsGCT (n.*2291_*2293delinsGCT)
c.2926_2928delinsGCT (p.Ala976=)
c.3547_3549delinsGCT (p.Ala1183=)
c.3214_3216delinsGCT (p.Ala1072=)
c.3295_3297delinsGCT (p.Ala1099=)
c.3313_3315delinsGCT (p.Ala1105=)
n.3686_3688delinsGCT
n.3910_3912delinsGCT
c.2482_2484delinsGCT (p.Ala828=)
c.2257_2259delinsGCT (p.Ala753=)
c.3352_3354delinsGCT (p.Ala1118=)
c.1325_1327delinsGCT
c.*648_*650delinsGCT (n.*648_*650delinsGCT)
n.4291_4293delinsGCT
n.2892_2894delinsGCT
c.3403_3405delinsGCT (p.Ala1135=)
c.3451_3453delinsGCT (p.Ala1151=)
c.3511_3513delinsGCT (p.Ala1171=)
c.3061_3063delinsGCT (p.Ala1021=)
c.1363_1365delinsGCT (p.Ala455=)
c.1180_1182delinsGCT (p.Ala394=)
c.3412_3414delinsGCT (p.Ala1138=)
c.3364_3366delinsGCT (p.Ala1122=)
c.3133_3135delinsGCT (p.Ala1045=)
c.3034_3036delinsGCT (p.Ala1012=)
c.2215_2217delinsGCT (p.Ala739=)
n.3766_3768delinsGCT
13g.51941089G>ACA388025938ATP7Bc.*1198C>T (n.*1198C>T)
c.*2292C>T (n.*2292C>T)
c.2927C>T (p.Ala976Val)
c.3548C>T (p.Ala1183Val)
c.3215C>T (p.Ala1072Val)
c.3296C>T (p.Ala1099Val)
c.3314C>T (p.Ala1105Val)
n.3687C>T
n.3911C>T
c.2483C>T (p.Ala828Val)
c.2258C>T (p.Ala753Val)
c.3353C>T (p.Ala1118Val)
c.1326C>T
c.*649C>T (n.*649C>T)
n.4292C>T
n.2893C>T
c.3404C>T (p.Ala1135Val)
c.3452C>T (p.Ala1151Val)
c.3512C>T (p.Ala1171Val)
c.3062C>T (p.Ala1021Val)
c.1364C>T (p.Ala455Val)
c.1181C>T (p.Ala394Val)
c.3413C>T (p.Ala1138Val)
c.3365C>T (p.Ala1122Val)
c.3134C>T (p.Ala1045Val)
c.3035C>T (p.Ala1012Val)
c.2216C>T (p.Ala739Val)
n.3767C>T
 dbSNP
13g.51941089G>CCA171321ATP7Bc.*1198C>G (n.*1198C>G)
c.*2292C>G (n.*2292C>G)
c.2927C>G (p.Ala976Gly)
c.3548C>G (p.Ala1183Gly)
c.3215C>G (p.Ala1072Gly)
c.3296C>G (p.Ala1099Gly)
c.3314C>G (p.Ala1105Gly)
n.3687C>G
n.3911C>G
c.2483C>G (p.Ala828Gly)
c.2258C>G (p.Ala753Gly)
c.3353C>G (p.Ala1118Gly)
c.1326C>G
c.*649C>G (n.*649C>G)
n.4292C>G
n.2893C>G
c.3404C>G (p.Ala1135Gly)
c.3452C>G (p.Ala1151Gly)
c.3512C>G (p.Ala1171Gly)
c.3062C>G (p.Ala1021Gly)
c.1364C>G (p.Ala455Gly)
c.1181C>G (p.Ala394Gly)
c.3413C>G (p.Ala1138Gly)
c.3365C>G (p.Ala1122Gly)
c.3134C>G (p.Ala1045Gly)
c.3035C>G (p.Ala1012Gly)
c.2216C>G (p.Ala739Gly)
n.3767C>G
 ClinVar dbSNP
13g.51941089G=CA2091559331ATP7Bc.*1198C= (n.*1198C=)
c.*2292C= (n.*2292C=)
c.2927C= (p.Ala976=)
c.3548C= (p.Ala1183=)
c.3215C= (p.Ala1072=)
c.3296C= (p.Ala1099=)
c.3314C= (p.Ala1105=)
n.3687C=
n.3911C=
c.2483C= (p.Ala828=)
c.2258C= (p.Ala753=)
c.3353C= (p.Ala1118=)
c.1326C=
c.*649C= (n.*649C=)
n.4292C=
n.2893C=
c.3404C= (p.Ala1135=)
c.3452C= (p.Ala1151=)
c.3512C= (p.Ala1171=)
c.3062C= (p.Ala1021=)
c.1364C= (p.Ala455=)
c.1181C= (p.Ala394=)
c.3413C= (p.Ala1138=)
c.3365C= (p.Ala1122=)
c.3134C= (p.Ala1045=)
c.3035C= (p.Ala1012=)
c.2216C= (p.Ala739=)
n.3767C=
13g.51941089G>TCA388025941ATP7Bc.*1198C>A (n.*1198C>A)
c.*2292C>A (n.*2292C>A)
c.2927C>A (p.Ala976Asp)
c.3548C>A (p.Ala1183Asp)
c.3215C>A (p.Ala1072Asp)
c.3296C>A (p.Ala1099Asp)
c.3314C>A (p.Ala1105Asp)
n.3687C>A
n.3911C>A
c.2483C>A (p.Ala828Asp)
c.2258C>A (p.Ala753Asp)
c.3353C>A (p.Ala1118Asp)
c.1326C>A
c.*649C>A (n.*649C>A)
n.4292C>A
n.2893C>A
c.3404C>A (p.Ala1135Asp)
c.3452C>A (p.Ala1151Asp)
c.3512C>A (p.Ala1171Asp)
c.3062C>A (p.Ala1021Asp)
c.1364C>A (p.Ala455Asp)
c.1181C>A (p.Ala394Asp)
c.3413C>A (p.Ala1138Asp)
c.3365C>A (p.Ala1122Asp)
c.3134C>A (p.Ala1045Asp)
c.3035C>A (p.Ala1012Asp)
c.2216C>A (p.Ala739Asp)
n.3767C>A
13g.51941089_51941090delCA250077096ATP7Bc.*1197_*1198del (n.*1197_*1198del)
c.*2291_*2292del (n.*2291_*2292del)
c.2926_2927del (p.Ala976TyrfsTer2)
c.3547_3548del (p.Ala1183TyrfsTer2)
c.3214_3215del (p.Ala1072TyrfsTer2)
c.3295_3296del (p.Ala1099TyrfsTer2)
c.3313_3314del (p.Ala1105TyrfsTer2)
n.3686_3687del
n.3910_3911del
c.2482_2483del (p.Ala828TyrfsTer2)
c.2257_2258del (p.Ala753TyrfsTer2)
c.3352_3353del (p.Ala1118TyrfsTer2)
c.1325_1326del
c.*648_*649del (n.*648_*649del)
n.4291_4292del
n.2892_2893del
c.3403_3404del (p.Ala1135TyrfsTer2)
c.3451_3452del (p.Ala1151TyrfsTer2)
c.3511_3512del (p.Ala1171TyrfsTer2)
c.3061_3062del (p.Ala1021TyrfsTer2)
c.1363_1364del (p.Ala455TyrfsTer2)
c.1180_1181del (p.Ala394TyrfsTer2)
c.3412_3413del (p.Ala1138TyrfsTer2)
c.3364_3365del (p.Ala1122TyrfsTer2)
c.3133_3134del (p.Ala1045TyrfsTer2)
c.3034_3035del (p.Ala1012TyrfsTer2)
c.2215_2216del (p.Ala739TyrfsTer2)
n.3766_3767del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51941090C>ACA388025944ATP7Bc.*1197G>T (n.*1197G>T)
c.*2291G>T (n.*2291G>T)
c.2926G>T (p.Ala976Ser)
c.3547G>T (p.Ala1183Ser)
c.3214G>T (p.Ala1072Ser)
c.3295G>T (p.Ala1099Ser)
c.3313G>T (p.Ala1105Ser)
n.3686G>T
n.3910G>T
c.2482G>T (p.Ala828Ser)
c.2257G>T (p.Ala753Ser)
c.3352G>T (p.Ala1118Ser)
c.1325G>T
c.*648G>T (n.*648G>T)
n.4291G>T
n.2892G>T
c.3403G>T (p.Ala1135Ser)
c.3451G>T (p.Ala1151Ser)
c.3511G>T (p.Ala1171Ser)
c.3061G>T (p.Ala1021Ser)
c.1363G>T (p.Ala455Ser)
c.1180G>T (p.Ala394Ser)
c.3412G>T (p.Ala1138Ser)
c.3364G>T (p.Ala1122Ser)
c.3133G>T (p.Ala1045Ser)
c.3034G>T (p.Ala1012Ser)
c.2215G>T (p.Ala739Ser)
n.3766G>T
13g.51941090C>GCA388025946ATP7Bc.*1197G>C (n.*1197G>C)
c.*2291G>C (n.*2291G>C)
c.2926G>C (p.Ala976Pro)
c.3547G>C (p.Ala1183Pro)
c.3214G>C (p.Ala1072Pro)
c.3295G>C (p.Ala1099Pro)
c.3313G>C (p.Ala1105Pro)
n.3686G>C
n.3910G>C
c.2482G>C (p.Ala828Pro)
c.2257G>C (p.Ala753Pro)
c.3352G>C (p.Ala1118Pro)
c.1325G>C
c.*648G>C (n.*648G>C)
n.4291G>C
n.2892G>C
c.3403G>C (p.Ala1135Pro)
c.3451G>C (p.Ala1151Pro)
c.3511G>C (p.Ala1171Pro)
c.3061G>C (p.Ala1021Pro)
c.1363G>C (p.Ala455Pro)
c.1180G>C (p.Ala394Pro)
c.3412G>C (p.Ala1138Pro)
c.3364G>C (p.Ala1122Pro)
c.3133G>C (p.Ala1045Pro)
c.3034G>C (p.Ala1012Pro)
c.2215G>C (p.Ala739Pro)
n.3766G>C
13g.51941090C>TCA388025947ATP7Bc.*1197G>A (n.*1197G>A)
c.*2291G>A (n.*2291G>A)
c.2926G>A (p.Ala976Thr)
c.3547G>A (p.Ala1183Thr)
c.3214G>A (p.Ala1072Thr)
c.3295G>A (p.Ala1099Thr)
c.3313G>A (p.Ala1105Thr)
n.3686G>A
n.3910G>A
c.2482G>A (p.Ala828Thr)
c.2257G>A (p.Ala753Thr)
c.3352G>A (p.Ala1118Thr)
c.1325G>A
c.*648G>A (n.*648G>A)
n.4291G>A
n.2892G>A
c.3403G>A (p.Ala1135Thr)
c.3451G>A (p.Ala1151Thr)
c.3511G>A (p.Ala1171Thr)
c.3061G>A (p.Ala1021Thr)
c.1363G>A (p.Ala455Thr)
c.1180G>A (p.Ala394Thr)
c.3412G>A (p.Ala1138Thr)
c.3364G>A (p.Ala1122Thr)
c.3133G>A (p.Ala1045Thr)
c.3034G>A (p.Ala1012Thr)
c.2215G>A (p.Ala739Thr)
n.3766G>A
 ClinVar dbSNP gnomAD v4
13g.51941091C>ACA483893926ATP7Bc.*1196G>T (n.*1196G>T)
c.*2290G>T (n.*2290G>T)
c.2925G>T (p.Val975=)
c.3546G>T (p.Val1182=)
c.3213G>T (p.Val1071=)
c.3294G>T (p.Val1098=)
c.3312G>T (p.Val1104=)
n.3685G>T
n.3909G>T
c.2481G>T (p.Val827=)
c.2256G>T (p.Val752=)
c.3351G>T (p.Val1117=)
c.1324G>T
c.*647G>T (n.*647G>T)
n.4290G>T
n.2891G>T
c.3402G>T (p.Val1134=)
c.3450G>T (p.Val1150=)
c.3510G>T (p.Val1170=)
c.3060G>T (p.Val1020=)
c.1362G>T (p.Val454=)
c.1179G>T (p.Val393=)
c.3411G>T (p.Val1137=)
c.3363G>T (p.Val1121=)
c.3132G>T (p.Val1044=)
c.3033G>T (p.Val1011=)
c.2214G>T (p.Val738=)
n.3765G>T
13g.51941091C>GCA483893928ATP7Bc.*1196G>C (n.*1196G>C)
c.*2290G>C (n.*2290G>C)
c.2925G>C (p.Val975=)
c.3546G>C (p.Val1182=)
c.3213G>C (p.Val1071=)
c.3294G>C (p.Val1098=)
c.3312G>C (p.Val1104=)
n.3685G>C
n.3909G>C
c.2481G>C (p.Val827=)
c.2256G>C (p.Val752=)
c.3351G>C (p.Val1117=)
c.1324G>C
c.*647G>C (n.*647G>C)
n.4290G>C
n.2891G>C
c.3402G>C (p.Val1134=)
c.3450G>C (p.Val1150=)
c.3510G>C (p.Val1170=)
c.3060G>C (p.Val1020=)
c.1362G>C (p.Val454=)
c.1179G>C (p.Val393=)
c.3411G>C (p.Val1137=)
c.3363G>C (p.Val1121=)
c.3132G>C (p.Val1044=)
c.3033G>C (p.Val1011=)
c.2214G>C (p.Val738=)
n.3765G>C
13g.51941091C>TCA483893927ATP7Bc.*1196G>A (n.*1196G>A)
c.*2290G>A (n.*2290G>A)
c.2925G>A (p.Val975=)
c.3546G>A (p.Val1182=)
c.3213G>A (p.Val1071=)
c.3294G>A (p.Val1098=)
c.3312G>A (p.Val1104=)
n.3685G>A
n.3909G>A
c.2481G>A (p.Val827=)
c.2256G>A (p.Val752=)
c.3351G>A (p.Val1117=)
c.1324G>A
c.*647G>A (n.*647G>A)
n.4290G>A
n.2891G>A
c.3402G>A (p.Val1134=)
c.3450G>A (p.Val1150=)
c.3510G>A (p.Val1170=)
c.3060G>A (p.Val1020=)
c.1362G>A (p.Val454=)
c.1179G>A (p.Val393=)
c.3411G>A (p.Val1137=)
c.3363G>A (p.Val1121=)
c.3132G>A (p.Val1044=)
c.3033G>A (p.Val1011=)
c.2214G>A (p.Val738=)
n.3765G>A
 gnomAD v4
13g.51941092A>CCA388025949ATP7Bc.*1195T>G (n.*1195T>G)
c.*2289T>G (n.*2289T>G)
c.2924T>G (p.Val975Gly)
c.3545T>G (p.Val1182Gly)
c.3212T>G (p.Val1071Gly)
c.3293T>G (p.Val1098Gly)
c.3311T>G (p.Val1104Gly)
n.3684T>G
n.3908T>G
c.2480T>G (p.Val827Gly)
c.2255T>G (p.Val752Gly)
c.3350T>G (p.Val1117Gly)
c.1323T>G
c.*646T>G (n.*646T>G)
n.4289T>G
n.2890T>G
c.3401T>G (p.Val1134Gly)
c.3449T>G (p.Val1150Gly)
c.3509T>G (p.Val1170Gly)
c.3059T>G (p.Val1020Gly)
c.1361T>G (p.Val454Gly)
c.1178T>G (p.Val393Gly)
c.3410T>G (p.Val1137Gly)
c.3362T>G (p.Val1121Gly)
c.3131T>G (p.Val1044Gly)
c.3032T>G (p.Val1011Gly)
c.2213T>G (p.Val738Gly)
n.3764T>G
13g.51941092A>GCA388025951ATP7Bc.*1195T>C (n.*1195T>C)
c.*2289T>C (n.*2289T>C)
c.2924T>C (p.Val975Ala)
c.3545T>C (p.Val1182Ala)
c.3212T>C (p.Val1071Ala)
c.3293T>C (p.Val1098Ala)
c.3311T>C (p.Val1104Ala)
n.3684T>C
n.3908T>C
c.2480T>C (p.Val827Ala)
c.2255T>C (p.Val752Ala)
c.3350T>C (p.Val1117Ala)
c.1323T>C
c.*646T>C (n.*646T>C)
n.4289T>C
n.2890T>C
c.3401T>C (p.Val1134Ala)
c.3449T>C (p.Val1150Ala)
c.3509T>C (p.Val1170Ala)
c.3059T>C (p.Val1020Ala)
c.1361T>C (p.Val454Ala)
c.1178T>C (p.Val393Ala)
c.3410T>C (p.Val1137Ala)
c.3362T>C (p.Val1121Ala)
c.3131T>C (p.Val1044Ala)
c.3032T>C (p.Val1011Ala)
c.2213T>C (p.Val738Ala)
n.3764T>C
13g.51941092A>TCA388025953ATP7Bc.*1195T>A (n.*1195T>A)
c.*2289T>A (n.*2289T>A)
c.2924T>A (p.Val975Glu)
c.3545T>A (p.Val1182Glu)
c.3212T>A (p.Val1071Glu)
c.3293T>A (p.Val1098Glu)
c.3311T>A (p.Val1104Glu)
n.3684T>A
n.3908T>A
c.2480T>A (p.Val827Glu)
c.2255T>A (p.Val752Glu)
c.3350T>A (p.Val1117Glu)
c.1323T>A
c.*646T>A (n.*646T>A)
n.4289T>A
n.2890T>A
c.3401T>A (p.Val1134Glu)
c.3449T>A (p.Val1150Glu)
c.3509T>A (p.Val1170Glu)
c.3059T>A (p.Val1020Glu)
c.1361T>A (p.Val454Glu)
c.1178T>A (p.Val393Glu)
c.3410T>A (p.Val1137Glu)
c.3362T>A (p.Val1121Glu)
c.3131T>A (p.Val1044Glu)
c.3032T>A (p.Val1011Glu)
c.2213T>A (p.Val738Glu)
n.3764T>A
13g.51941092dupCA2695199761ATP7Bc.*1195dup (n.*1195dup)
c.*2289dup (n.*2289dup)
c.2924dup (p.Ala976GlyfsTer3)
c.3545dup (p.Ala1183GlyfsTer3)
c.3212dup (p.Ala1072GlyfsTer3)
c.3293dup (p.Ala1099GlyfsTer3)
c.3311dup (p.Ala1105GlyfsTer3)
n.3684dup
n.3908dup
c.2480dup (p.Ala828GlyfsTer3)
c.2255dup (p.Ala753GlyfsTer3)
c.3350dup (p.Ala1118GlyfsTer3)
c.1323dup
c.*646dup (n.*646dup)
n.4289dup
n.2890dup
c.3401dup (p.Ala1135GlyfsTer3)
c.3449dup (p.Ala1151GlyfsTer3)
c.3509dup (p.Ala1171GlyfsTer3)
c.3059dup (p.Ala1021GlyfsTer3)
c.1361dup (p.Ala455GlyfsTer3)
c.1178dup (p.Ala394GlyfsTer3)
c.3410dup (p.Ala1138GlyfsTer3)
c.3362dup (p.Ala1122GlyfsTer3)
c.3131dup (p.Ala1045GlyfsTer3)
c.3032dup (p.Ala1012GlyfsTer3)
c.2213dup (p.Ala739GlyfsTer3)
n.3764dup
 ClinVar
13g.51941093C>ACA388025959ATP7Bc.*1194G>T (n.*1194G>T)
c.*2288G>T (n.*2288G>T)
c.2923G>T (p.Val975Leu)
c.3544G>T (p.Val1182Leu)
c.3211G>T (p.Val1071Leu)
c.3292G>T (p.Val1098Leu)
c.3310G>T (p.Val1104Leu)
n.3683G>T
n.3907G>T
c.2479G>T (p.Val827Leu)
c.2254G>T (p.Val752Leu)
c.3349G>T (p.Val1117Leu)
c.1322G>T
c.*645G>T (n.*645G>T)
n.4288G>T
n.2889G>T
c.3400G>T (p.Val1134Leu)
c.3448G>T (p.Val1150Leu)
c.3508G>T (p.Val1170Leu)
c.3058G>T (p.Val1020Leu)
c.1360G>T (p.Val454Leu)
c.1177G>T (p.Val393Leu)
c.3409G>T (p.Val1137Leu)
c.3361G>T (p.Val1121Leu)
c.3130G>T (p.Val1044Leu)
c.3031G>T (p.Val1011Leu)
c.2212G>T (p.Val738Leu)
n.3763G>T
 dbSNP
13g.51941093C=CA2091559342ATP7Bc.*1194G= (n.*1194G=)
c.*2288G= (n.*2288G=)
c.2923G= (p.Val975=)
c.3544G= (p.Val1182=)
c.3211G= (p.Val1071=)
c.3292G= (p.Val1098=)
c.3310G= (p.Val1104=)
n.3683G=
n.3907G=
c.2479G= (p.Val827=)
c.2254G= (p.Val752=)
c.3349G= (p.Val1117=)
c.1322G=
c.*645G= (n.*645G=)
n.4288G=
n.2889G=
c.3400G= (p.Val1134=)
c.3448G= (p.Val1150=)
c.3508G= (p.Val1170=)
c.3058G= (p.Val1020=)
c.1360G= (p.Val454=)
c.1177G= (p.Val393=)
c.3409G= (p.Val1137=)
c.3361G= (p.Val1121=)
c.3130G= (p.Val1044=)
c.3031G= (p.Val1011=)
c.2212G= (p.Val738=)
n.3763G=
13g.51941093C>GCA388025964ATP7Bc.*1194G>C (n.*1194G>C)
c.*2288G>C (n.*2288G>C)
c.2923G>C (p.Val975Leu)
c.3544G>C (p.Val1182Leu)
c.3211G>C (p.Val1071Leu)
c.3292G>C (p.Val1098Leu)
c.3310G>C (p.Val1104Leu)
n.3683G>C
n.3907G>C
c.2479G>C (p.Val827Leu)
c.2254G>C (p.Val752Leu)
c.3349G>C (p.Val1117Leu)
c.1322G>C
c.*645G>C (n.*645G>C)
n.4288G>C
n.2889G>C
c.3400G>C (p.Val1134Leu)
c.3448G>C (p.Val1150Leu)
c.3508G>C (p.Val1170Leu)
c.3058G>C (p.Val1020Leu)
c.1360G>C (p.Val454Leu)
c.1177G>C (p.Val393Leu)
c.3409G>C (p.Val1137Leu)
c.3361G>C (p.Val1121Leu)
c.3130G>C (p.Val1044Leu)
c.3031G>C (p.Val1011Leu)
c.2212G>C (p.Val738Leu)
n.3763G>C
 ClinVar
13g.51941093C>TCA388025967ATP7Bc.*1194G>A (n.*1194G>A)
c.*2288G>A (n.*2288G>A)
c.2923G>A (p.Val975Met)
c.3544G>A (p.Val1182Met)
c.3211G>A (p.Val1071Met)
c.3292G>A (p.Val1098Met)
c.3310G>A (p.Val1104Met)
n.3683G>A
n.3907G>A
c.2479G>A (p.Val827Met)
c.2254G>A (p.Val752Met)
c.3349G>A (p.Val1117Met)
c.1322G>A
c.*645G>A (n.*645G>A)
n.4288G>A
n.2889G>A
c.3400G>A (p.Val1134Met)
c.3448G>A (p.Val1150Met)
c.3508G>A (p.Val1170Met)
c.3058G>A (p.Val1020Met)
c.1360G>A (p.Val454Met)
c.1177G>A (p.Val393Met)
c.3409G>A (p.Val1137Met)
c.3361G>A (p.Val1121Met)
c.3130G>A (p.Val1044Met)
c.3031G>A (p.Val1011Met)
c.2212G>A (p.Val738Met)
n.3763G>A
13g.51941094C>ACA483893929ATP7Bc.*1193G>T (n.*1193G>T)
c.*2287G>T (n.*2287G>T)
c.2922G>T (p.Leu974=)
c.3543G>T (p.Leu1181=)
c.3210G>T (p.Leu1070=)
c.3291G>T (p.Leu1097=)
c.3309G>T (p.Leu1103=)
n.3682G>T
n.3906G>T
c.2478G>T (p.Leu826=)
c.2253G>T (p.Leu751=)
c.3348G>T (p.Leu1116=)
c.1321G>T
c.*644G>T (n.*644G>T)
n.4287G>T
n.2888G>T
c.3399G>T (p.Leu1133=)
c.3447G>T (p.Leu1149=)
c.3507G>T (p.Leu1169=)
c.3057G>T (p.Leu1019=)
c.1359G>T (p.Leu453=)
c.1176G>T (p.Leu392=)
c.3408G>T (p.Leu1136=)
c.3360G>T (p.Leu1120=)
c.3129G>T (p.Leu1043=)
c.3030G>T (p.Leu1010=)
c.2211G>T (p.Leu737=)
n.3762G>T
13g.51941094C=CA2091559346ATP7Bc.*1193G= (n.*1193G=)
c.*2287G= (n.*2287G=)
c.2922G= (p.Leu974=)
c.3543G= (p.Leu1181=)
c.3210G= (p.Leu1070=)
c.3291G= (p.Leu1097=)
c.3309G= (p.Leu1103=)
n.3682G=
n.3906G=
c.2478G= (p.Leu826=)
c.2253G= (p.Leu751=)
c.3348G= (p.Leu1116=)
c.1321G=
c.*644G= (n.*644G=)
n.4287G=
n.2888G=
c.3399G= (p.Leu1133=)
c.3447G= (p.Leu1149=)
c.3507G= (p.Leu1169=)
c.3057G= (p.Leu1019=)
c.1359G= (p.Leu453=)
c.1176G= (p.Leu392=)
c.3408G= (p.Leu1136=)
c.3360G= (p.Leu1120=)
c.3129G= (p.Leu1043=)
c.3030G= (p.Leu1010=)
c.2211G= (p.Leu737=)
n.3762G=
13g.51941094C>GCA250077102ATP7Bc.*1193G>C (n.*1193G>C)
c.*2287G>C (n.*2287G>C)
c.2922G>C (p.Leu974=)
c.3543G>C (p.Leu1181=)
c.3210G>C (p.Leu1070=)
c.3291G>C (p.Leu1097=)
c.3309G>C (p.Leu1103=)
n.3682G>C
n.3906G>C
c.2478G>C (p.Leu826=)
c.2253G>C (p.Leu751=)
c.3348G>C (p.Leu1116=)
c.1321G>C
c.*644G>C (n.*644G>C)
n.4287G>C
n.2888G>C
c.3399G>C (p.Leu1133=)
c.3447G>C (p.Leu1149=)
c.3507G>C (p.Leu1169=)
c.3057G>C (p.Leu1019=)
c.1359G>C (p.Leu453=)
c.1176G>C (p.Leu392=)
c.3408G>C (p.Leu1136=)
c.3360G>C (p.Leu1120=)
c.3129G>C (p.Leu1043=)
c.3030G>C (p.Leu1010=)
c.2211G>C (p.Leu737=)
n.3762G>C
 dbSNP gnomAD v4
13g.51941094C>TCA483893930ATP7Bc.*1193G>A (n.*1193G>A)
c.*2287G>A (n.*2287G>A)
c.2922G>A (p.Leu974=)
c.3543G>A (p.Leu1181=)
c.3210G>A (p.Leu1070=)
c.3291G>A (p.Leu1097=)
c.3309G>A (p.Leu1103=)
n.3682G>A
n.3906G>A
c.2478G>A (p.Leu826=)
c.2253G>A (p.Leu751=)
c.3348G>A (p.Leu1116=)
c.1321G>A
c.*644G>A (n.*644G>A)
n.4287G>A
n.2888G>A
c.3399G>A (p.Leu1133=)
c.3447G>A (p.Leu1149=)
c.3507G>A (p.Leu1169=)
c.3057G>A (p.Leu1019=)
c.1359G>A (p.Leu453=)
c.1176G>A (p.Leu392=)
c.3408G>A (p.Leu1136=)
c.3360G>A (p.Leu1120=)
c.3129G>A (p.Leu1043=)
c.3030G>A (p.Leu1010=)
c.2211G>A (p.Leu737=)
n.3762G>A
13g.51941095A>CCA388025979ATP7Bc.*1192T>G (n.*1192T>G)
c.*2286T>G (n.*2286T>G)
c.2921T>G (p.Leu974Arg)
c.3542T>G (p.Leu1181Arg)
c.3209T>G (p.Leu1070Arg)
c.3290T>G (p.Leu1097Arg)
c.3308T>G (p.Leu1103Arg)
n.3681T>G
n.3905T>G
c.2477T>G (p.Leu826Arg)
c.2252T>G (p.Leu751Arg)
c.3347T>G (p.Leu1116Arg)
c.1320T>G
c.*643T>G (n.*643T>G)
n.4286T>G
n.2887T>G
c.3398T>G (p.Leu1133Arg)
c.3446T>G (p.Leu1149Arg)
c.3506T>G (p.Leu1169Arg)
c.3056T>G (p.Leu1019Arg)
c.1358T>G (p.Leu453Arg)
c.1175T>G (p.Leu392Arg)
c.3407T>G (p.Leu1136Arg)
c.3359T>G (p.Leu1120Arg)
c.3128T>G (p.Leu1043Arg)
c.3029T>G (p.Leu1010Arg)
c.2210T>G (p.Leu737Arg)
n.3761T>G
13g.51941095A>GCA388025974ATP7Bc.*1192T>C (n.*1192T>C)
c.*2286T>C (n.*2286T>C)
c.2921T>C (p.Leu974Pro)
c.3542T>C (p.Leu1181Pro)
c.3209T>C (p.Leu1070Pro)
c.3290T>C (p.Leu1097Pro)
c.3308T>C (p.Leu1103Pro)
n.3681T>C
n.3905T>C
c.2477T>C (p.Leu826Pro)
c.2252T>C (p.Leu751Pro)
c.3347T>C (p.Leu1116Pro)
c.1320T>C
c.*643T>C (n.*643T>C)
n.4286T>C
n.2887T>C
c.3398T>C (p.Leu1133Pro)
c.3446T>C (p.Leu1149Pro)
c.3506T>C (p.Leu1169Pro)
c.3056T>C (p.Leu1019Pro)
c.1358T>C (p.Leu453Pro)
c.1175T>C (p.Leu392Pro)
c.3407T>C (p.Leu1136Pro)
c.3359T>C (p.Leu1120Pro)
c.3128T>C (p.Leu1043Pro)
c.3029T>C (p.Leu1010Pro)
c.2210T>C (p.Leu737Pro)
n.3761T>C
 gnomAD v4
13g.51941095A>TCA388025972ATP7Bc.*1192T>A (n.*1192T>A)
c.*2286T>A (n.*2286T>A)
c.2921T>A (p.Leu974Gln)
c.3542T>A (p.Leu1181Gln)
c.3209T>A (p.Leu1070Gln)
c.3290T>A (p.Leu1097Gln)
c.3308T>A (p.Leu1103Gln)
n.3681T>A
n.3905T>A
c.2477T>A (p.Leu826Gln)
c.2252T>A (p.Leu751Gln)
c.3347T>A (p.Leu1116Gln)
c.1320T>A
c.*643T>A (n.*643T>A)
n.4286T>A
n.2887T>A
c.3398T>A (p.Leu1133Gln)
c.3446T>A (p.Leu1149Gln)
c.3506T>A (p.Leu1169Gln)
c.3056T>A (p.Leu1019Gln)
c.1358T>A (p.Leu453Gln)
c.1175T>A (p.Leu392Gln)
c.3407T>A (p.Leu1136Gln)
c.3359T>A (p.Leu1120Gln)
c.3128T>A (p.Leu1043Gln)
c.3029T>A (p.Leu1010Gln)
c.2210T>A (p.Leu737Gln)
n.3761T>A
13g.51941096G>ACA483893931ATP7Bc.*1191C>T (n.*1191C>T)
c.*2285C>T (n.*2285C>T)
c.2920C>T (p.Leu974=)
c.3541C>T (p.Leu1181=)
c.3208C>T (p.Leu1070=)
c.3289C>T (p.Leu1097=)
c.3307C>T (p.Leu1103=)
n.3680C>T
n.3904C>T
c.2476C>T (p.Leu826=)
c.2251C>T (p.Leu751=)
c.3346C>T (p.Leu1116=)
c.1319C>T
c.*642C>T (n.*642C>T)
n.4285C>T
n.2886C>T
c.3397C>T (p.Leu1133=)
c.3445C>T (p.Leu1149=)
c.3505C>T (p.Leu1169=)
c.3055C>T (p.Leu1019=)
c.1357C>T (p.Leu453=)
c.1174C>T (p.Leu392=)
c.3406C>T (p.Leu1136=)
c.3358C>T (p.Leu1120=)
c.3127C>T (p.Leu1043=)
c.3028C>T (p.Leu1010=)
c.2209C>T (p.Leu737=)
n.3760C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51941096G>CCA6988665ATP7Bc.*1191C>G (n.*1191C>G)
c.*2285C>G (n.*2285C>G)
c.2920C>G (p.Leu974Val)
c.3541C>G (p.Leu1181Val)
c.3208C>G (p.Leu1070Val)
c.3289C>G (p.Leu1097Val)
c.3307C>G (p.Leu1103Val)
n.3680C>G
n.3904C>G
c.2476C>G (p.Leu826Val)
c.2251C>G (p.Leu751Val)
c.3346C>G (p.Leu1116Val)
c.1319C>G
c.*642C>G (n.*642C>G)
n.4285C>G
n.2886C>G
c.3397C>G (p.Leu1133Val)
c.3445C>G (p.Leu1149Val)
c.3505C>G (p.Leu1169Val)
c.3055C>G (p.Leu1019Val)
c.1357C>G (p.Leu453Val)
c.1174C>G (p.Leu392Val)
c.3406C>G (p.Leu1136Val)
c.3358C>G (p.Leu1120Val)
c.3127C>G (p.Leu1043Val)
c.3028C>G (p.Leu1010Val)
c.2209C>G (p.Leu737Val)
n.3760C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51941096G=CA2091559350ATP7Bc.*1191C= (n.*1191C=)
c.*2285C= (n.*2285C=)
c.2920C= (p.Leu974=)
c.3541C= (p.Leu1181=)
c.3208C= (p.Leu1070=)
c.3289C= (p.Leu1097=)
c.3307C= (p.Leu1103=)
n.3680C=
n.3904C=
c.2476C= (p.Leu826=)
c.2251C= (p.Leu751=)
c.3346C= (p.Leu1116=)
c.1319C=
c.*642C= (n.*642C=)
n.4285C=
n.2886C=
c.3397C= (p.Leu1133=)
c.3445C= (p.Leu1149=)
c.3505C= (p.Leu1169=)
c.3055C= (p.Leu1019=)
c.1357C= (p.Leu453=)
c.1174C= (p.Leu392=)
c.3406C= (p.Leu1136=)
c.3358C= (p.Leu1120=)
c.3127C= (p.Leu1043=)
c.3028C= (p.Leu1010=)
c.2209C= (p.Leu737=)
n.3760C=
13g.51941096G>TCA388025982ATP7Bc.*1191C>A (n.*1191C>A)
c.*2285C>A (n.*2285C>A)
c.2920C>A (p.Leu974Met)
c.3541C>A (p.Leu1181Met)
c.3208C>A (p.Leu1070Met)
c.3289C>A (p.Leu1097Met)
c.3307C>A (p.Leu1103Met)
n.3680C>A
n.3904C>A
c.2476C>A (p.Leu826Met)
c.2251C>A (p.Leu751Met)
c.3346C>A (p.Leu1116Met)
c.1319C>A
c.*642C>A (n.*642C>A)
n.4285C>A
n.2886C>A
c.3397C>A (p.Leu1133Met)
c.3445C>A (p.Leu1149Met)
c.3505C>A (p.Leu1169Met)
c.3055C>A (p.Leu1019Met)
c.1357C>A (p.Leu453Met)
c.1174C>A (p.Leu392Met)
c.3406C>A (p.Leu1136Met)
c.3358C>A (p.Leu1120Met)
c.3127C>A (p.Leu1043Met)
c.3028C>A (p.Leu1010Met)
c.2209C>A (p.Leu737Met)
n.3760C>A
13g.51941097G>ACA483893932ATP7Bc.*1190C>T (n.*1190C>T)
c.*2284C>T (n.*2284C>T)
c.2919C>T (p.Ile973=)
c.3540C>T (p.Ile1180=)
c.3207C>T (p.Ile1069=)
c.3288C>T (p.Ile1096=)
c.3306C>T (p.Ile1102=)
n.3679C>T
n.3903C>T
c.2475C>T (p.Ile825=)
c.2250C>T (p.Ile750=)
c.3345C>T (p.Ile1115=)
c.1318C>T
c.*641C>T (n.*641C>T)
n.4284C>T
n.2885C>T
c.3396C>T (p.Ile1132=)
c.3444C>T (p.Ile1148=)
c.3504C>T (p.Ile1168=)
c.3054C>T (p.Ile1018=)
c.1356C>T (p.Ile452=)
c.1173C>T (p.Ile391=)
c.3405C>T (p.Ile1135=)
c.3357C>T (p.Ile1119=)
c.3126C>T (p.Ile1042=)
c.3027C>T (p.Ile1009=)
c.2208C>T (p.Ile736=)
n.3759C>T
13g.51941097G>CCA388025987ATP7Bc.*1190C>G (n.*1190C>G)
c.*2284C>G (n.*2284C>G)
c.2919C>G (p.Ile973Met)
c.3540C>G (p.Ile1180Met)
c.3207C>G (p.Ile1069Met)
c.3288C>G (p.Ile1096Met)
c.3306C>G (p.Ile1102Met)
n.3679C>G
n.3903C>G
c.2475C>G (p.Ile825Met)
c.2250C>G (p.Ile750Met)
c.3345C>G (p.Ile1115Met)
c.1318C>G
c.*641C>G (n.*641C>G)
n.4284C>G
n.2885C>G
c.3396C>G (p.Ile1132Met)
c.3444C>G (p.Ile1148Met)
c.3504C>G (p.Ile1168Met)
c.3054C>G (p.Ile1018Met)
c.1356C>G (p.Ile452Met)
c.1173C>G (p.Ile391Met)
c.3405C>G (p.Ile1135Met)
c.3357C>G (p.Ile1119Met)
c.3126C>G (p.Ile1042Met)
c.3027C>G (p.Ile1009Met)
c.2208C>G (p.Ile736Met)
n.3759C>G
13g.51941097G>TCA483893933ATP7Bc.*1190C>A (n.*1190C>A)
c.*2284C>A (n.*2284C>A)
c.2919C>A (p.Ile973=)
c.3540C>A (p.Ile1180=)
c.3207C>A (p.Ile1069=)
c.3288C>A (p.Ile1096=)
c.3306C>A (p.Ile1102=)
n.3679C>A
n.3903C>A
c.2475C>A (p.Ile825=)
c.2250C>A (p.Ile750=)
c.3345C>A (p.Ile1115=)
c.1318C>A
c.*641C>A (n.*641C>A)
n.4284C>A
n.2885C>A
c.3396C>A (p.Ile1132=)
c.3444C>A (p.Ile1148=)
c.3504C>A (p.Ile1168=)
c.3054C>A (p.Ile1018=)
c.1356C>A (p.Ile452=)
c.1173C>A (p.Ile391=)
c.3405C>A (p.Ile1135=)
c.3357C>A (p.Ile1119=)
c.3126C>A (p.Ile1042=)
c.3027C>A (p.Ile1009=)
c.2208C>A (p.Ile736=)
n.3759C>A
13g.51941098A>CCA388025989ATP7Bc.*1189T>G (n.*1189T>G)
c.*2283T>G (n.*2283T>G)
c.2918T>G (p.Ile973Ser)
c.3539T>G (p.Ile1180Ser)
c.3206T>G (p.Ile1069Ser)
c.3287T>G (p.Ile1096Ser)
c.3305T>G (p.Ile1102Ser)
n.3678T>G
n.3902T>G
c.2474T>G (p.Ile825Ser)
c.2249T>G (p.Ile750Ser)
c.3344T>G (p.Ile1115Ser)
c.1317T>G
c.*640T>G (n.*640T>G)
n.4283T>G
n.2884T>G
c.3395T>G (p.Ile1132Ser)
c.3443T>G (p.Ile1148Ser)
c.3503T>G (p.Ile1168Ser)
c.3053T>G (p.Ile1018Ser)
c.1355T>G (p.Ile452Ser)
c.1172T>G (p.Ile391Ser)
c.3404T>G (p.Ile1135Ser)
c.3356T>G (p.Ile1119Ser)
c.3125T>G (p.Ile1042Ser)
c.3026T>G (p.Ile1009Ser)
c.2207T>G (p.Ile736Ser)
n.3758T>G
13g.51941098A>GCA388025990ATP7Bc.*1189T>C (n.*1189T>C)
c.*2283T>C (n.*2283T>C)
c.2918T>C (p.Ile973Thr)
c.3539T>C (p.Ile1180Thr)
c.3206T>C (p.Ile1069Thr)
c.3287T>C (p.Ile1096Thr)
c.3305T>C (p.Ile1102Thr)
n.3678T>C
n.3902T>C
c.2474T>C (p.Ile825Thr)
c.2249T>C (p.Ile750Thr)
c.3344T>C (p.Ile1115Thr)
c.1317T>C
c.*640T>C (n.*640T>C)
n.4283T>C
n.2884T>C
c.3395T>C (p.Ile1132Thr)
c.3443T>C (p.Ile1148Thr)
c.3503T>C (p.Ile1168Thr)
c.3053T>C (p.Ile1018Thr)
c.1355T>C (p.Ile452Thr)
c.1172T>C (p.Ile391Thr)
c.3404T>C (p.Ile1135Thr)
c.3356T>C (p.Ile1119Thr)
c.3125T>C (p.Ile1042Thr)
c.3026T>C (p.Ile1009Thr)
c.2207T>C (p.Ile736Thr)
n.3758T>C
13g.51941098A>TCA388025992ATP7Bc.*1189T>A (n.*1189T>A)
c.*2283T>A (n.*2283T>A)
c.2918T>A (p.Ile973Asn)
c.3539T>A (p.Ile1180Asn)
c.3206T>A (p.Ile1069Asn)
c.3287T>A (p.Ile1096Asn)
c.3305T>A (p.Ile1102Asn)
n.3678T>A
n.3902T>A
c.2474T>A (p.Ile825Asn)
c.2249T>A (p.Ile750Asn)
c.3344T>A (p.Ile1115Asn)
c.1317T>A
c.*640T>A (n.*640T>A)
n.4283T>A
n.2884T>A
c.3395T>A (p.Ile1132Asn)
c.3443T>A (p.Ile1148Asn)
c.3503T>A (p.Ile1168Asn)
c.3053T>A (p.Ile1018Asn)
c.1355T>A (p.Ile452Asn)
c.1172T>A (p.Ile391Asn)
c.3404T>A (p.Ile1135Asn)
c.3356T>A (p.Ile1119Asn)
c.3125T>A (p.Ile1042Asn)
c.3026T>A (p.Ile1009Asn)
c.2207T>A (p.Ile736Asn)
n.3758T>A
13g.51941099delCA2695218782ATP7Bc.*1188del (n.*1188del)
c.*2282del (n.*2282del)
c.2917del (p.Ile973SerfsTer12)
c.3538del (p.Ile1180SerfsTer12)
c.3205del (p.Ile1069SerfsTer12)
c.3286del (p.Ile1096SerfsTer12)
c.3304del (p.Ile1102SerfsTer12)
n.3677del
n.3901del
c.2473del (p.Ile825SerfsTer12)
c.2248del (p.Ile750SerfsTer12)
c.3343del (p.Ile1115SerfsTer12)
c.1316del
c.*639del (n.*639del)
n.4282del
n.2883del
c.3394del (p.Ile1132SerfsTer12)
c.3442del (p.Ile1148SerfsTer12)
c.3502del (p.Ile1168SerfsTer12)
c.3052del (p.Ile1018SerfsTer12)
c.1354del (p.Ile452SerfsTer12)
c.1171del (p.Ile391SerfsTer12)
c.3403del (p.Ile1135SerfsTer12)
c.3355del (p.Ile1119SerfsTer12)
c.3124del (p.Ile1042SerfsTer12)
c.3025del (p.Ile1009SerfsTer12)
c.2206del (p.Ile736SerfsTer12)
n.3757del
13g.51941099T>ACA388026003ATP7Bc.*1188A>T (n.*1188A>T)
c.*2282A>T (n.*2282A>T)
c.2917A>T (p.Ile973Phe)
c.3538A>T (p.Ile1180Phe)
c.3205A>T (p.Ile1069Phe)
c.3286A>T (p.Ile1096Phe)
c.3304A>T (p.Ile1102Phe)
n.3677A>T
n.3901A>T
c.2473A>T (p.Ile825Phe)
c.2248A>T (p.Ile750Phe)
c.3343A>T (p.Ile1115Phe)
c.1316A>T
c.*639A>T (n.*639A>T)
n.4282A>T
n.2883A>T
c.3394A>T (p.Ile1132Phe)
c.3442A>T (p.Ile1148Phe)
c.3502A>T (p.Ile1168Phe)
c.3052A>T (p.Ile1018Phe)
c.1354A>T (p.Ile452Phe)
c.1171A>T (p.Ile391Phe)
c.3403A>T (p.Ile1135Phe)
c.3355A>T (p.Ile1119Phe)
c.3124A>T (p.Ile1042Phe)
c.3025A>T (p.Ile1009Phe)
c.2206A>T (p.Ile736Phe)
n.3757A>T
 dbSNP gnomAD v2
13g.51941099T>CCA388025999ATP7Bc.*1188A>G (n.*1188A>G)
c.*2282A>G (n.*2282A>G)
c.2917A>G (p.Ile973Val)
c.3538A>G (p.Ile1180Val)
c.3205A>G (p.Ile1069Val)
c.3286A>G (p.Ile1096Val)
c.3304A>G (p.Ile1102Val)
n.3677A>G
n.3901A>G
c.2473A>G (p.Ile825Val)
c.2248A>G (p.Ile750Val)
c.3343A>G (p.Ile1115Val)
c.1316A>G
c.*639A>G (n.*639A>G)
n.4282A>G
n.2883A>G
c.3394A>G (p.Ile1132Val)
c.3442A>G (p.Ile1148Val)
c.3502A>G (p.Ile1168Val)
c.3052A>G (p.Ile1018Val)
c.1354A>G (p.Ile452Val)
c.1171A>G (p.Ile391Val)
c.3403A>G (p.Ile1135Val)
c.3355A>G (p.Ile1119Val)
c.3124A>G (p.Ile1042Val)
c.3025A>G (p.Ile1009Val)
c.2206A>G (p.Ile736Val)
n.3757A>G
 dbSNP gnomAD v2 gnomAD v4
13g.51941099T>GCA388025995ATP7Bc.*1188A>C (n.*1188A>C)
c.*2282A>C (n.*2282A>C)
c.2917A>C (p.Ile973Leu)
c.3538A>C (p.Ile1180Leu)
c.3205A>C (p.Ile1069Leu)
c.3286A>C (p.Ile1096Leu)
c.3304A>C (p.Ile1102Leu)
n.3677A>C
n.3901A>C
c.2473A>C (p.Ile825Leu)
c.2248A>C (p.Ile750Leu)
c.3343A>C (p.Ile1115Leu)
c.1316A>C
c.*639A>C (n.*639A>C)
n.4282A>C
n.2883A>C
c.3394A>C (p.Ile1132Leu)
c.3442A>C (p.Ile1148Leu)
c.3502A>C (p.Ile1168Leu)
c.3052A>C (p.Ile1018Leu)
c.1354A>C (p.Ile452Leu)
c.1171A>C (p.Ile391Leu)
c.3403A>C (p.Ile1135Leu)
c.3355A>C (p.Ile1119Leu)
c.3124A>C (p.Ile1042Leu)
c.3025A>C (p.Ile1009Leu)
c.2206A>C (p.Ile736Leu)
n.3757A>C
13g.51941099T=CA2091559354ATP7Bc.*1188A= (n.*1188A=)
c.*2282A= (n.*2282A=)
c.2917A= (p.Ile973=)
c.3538A= (p.Ile1180=)
c.3205A= (p.Ile1069=)
c.3286A= (p.Ile1096=)
c.3304A= (p.Ile1102=)
n.3677A=
n.3901A=
c.2473A= (p.Ile825=)
c.2248A= (p.Ile750=)
c.3343A= (p.Ile1115=)
c.1316A=
c.*639A= (n.*639A=)
n.4282A=
n.2883A=
c.3394A= (p.Ile1132=)
c.3442A= (p.Ile1148=)
c.3502A= (p.Ile1168=)
c.3052A= (p.Ile1018=)
c.1354A= (p.Ile452=)
c.1171A= (p.Ile391=)
c.3403A= (p.Ile1135=)
c.3355A= (p.Ile1119=)
c.3124A= (p.Ile1042=)
c.3025A= (p.Ile1009=)
c.2206A= (p.Ile736=)
n.3757A=
13g.51941100G>ACA483893936ATP7Bc.*1187C>T (n.*1187C>T)
c.*2281C>T (n.*2281C>T)
c.2916C>T (p.Ala972=)
c.3537C>T (p.Ala1179=)
c.3204C>T (p.Ala1068=)
c.3285C>T (p.Ala1095=)
c.3303C>T (p.Ala1101=)
n.3676C>T
n.3900C>T
c.2472C>T (p.Ala824=)
c.2247C>T (p.Ala749=)
c.3342C>T (p.Ala1114=)
c.1315C>T
c.*638C>T (n.*638C>T)
n.4281C>T
n.2882C>T
c.3393C>T (p.Ala1131=)
c.3441C>T (p.Ala1147=)
c.3501C>T (p.Ala1167=)
c.3051C>T (p.Ala1017=)
c.1353C>T (p.Ala451=)
c.1170C>T (p.Ala390=)
c.3402C>T (p.Ala1134=)
c.3354C>T (p.Ala1118=)
c.3123C>T (p.Ala1041=)
c.3024C>T (p.Ala1008=)
c.2205C>T (p.Ala735=)
n.3756C>T
13g.51941100G>CCA483893935ATP7Bc.*1187C>G (n.*1187C>G)
c.*2281C>G (n.*2281C>G)
c.2916C>G (p.Ala972=)
c.3537C>G (p.Ala1179=)
c.3204C>G (p.Ala1068=)
c.3285C>G (p.Ala1095=)
c.3303C>G (p.Ala1101=)
n.3676C>G
n.3900C>G
c.2472C>G (p.Ala824=)
c.2247C>G (p.Ala749=)
c.3342C>G (p.Ala1114=)
c.1315C>G
c.*638C>G (n.*638C>G)
n.4281C>G
n.2882C>G
c.3393C>G (p.Ala1131=)
c.3441C>G (p.Ala1147=)
c.3501C>G (p.Ala1167=)
c.3051C>G (p.Ala1017=)
c.1353C>G (p.Ala451=)
c.1170C>G (p.Ala390=)
c.3402C>G (p.Ala1134=)
c.3354C>G (p.Ala1118=)
c.3123C>G (p.Ala1041=)
c.3024C>G (p.Ala1008=)
c.2205C>G (p.Ala735=)
n.3756C>G
13g.51941100G>TCA483893934ATP7Bc.*1187C>A (n.*1187C>A)
c.*2281C>A (n.*2281C>A)
c.2916C>A (p.Ala972=)
c.3537C>A (p.Ala1179=)
c.3204C>A (p.Ala1068=)
c.3285C>A (p.Ala1095=)
c.3303C>A (p.Ala1101=)
n.3676C>A
n.3900C>A
c.2472C>A (p.Ala824=)
c.2247C>A (p.Ala749=)
c.3342C>A (p.Ala1114=)
c.1315C>A
c.*638C>A (n.*638C>A)
n.4281C>A
n.2882C>A
c.3393C>A (p.Ala1131=)
c.3441C>A (p.Ala1147=)
c.3501C>A (p.Ala1167=)
c.3051C>A (p.Ala1017=)
c.1353C>A (p.Ala451=)
c.1170C>A (p.Ala390=)
c.3402C>A (p.Ala1134=)
c.3354C>A (p.Ala1118=)
c.3123C>A (p.Ala1041=)
c.3024C>A (p.Ala1008=)
c.2205C>A (p.Ala735=)
n.3756C>A
13g.51941101G>ACA388026008ATP7Bc.*1186C>T (n.*1186C>T)
c.*2280C>T (n.*2280C>T)
c.2915C>T (p.Ala972Val)
c.3536C>T (p.Ala1179Val)
c.3203C>T (p.Ala1068Val)
c.3284C>T (p.Ala1095Val)
c.3302C>T (p.Ala1101Val)
n.3675C>T
n.3899C>T
c.2471C>T (p.Ala824Val)
c.2246C>T (p.Ala749Val)
c.3341C>T (p.Ala1114Val)
c.1314C>T
c.*637C>T (n.*637C>T)
n.4280C>T
n.2881C>T
c.3392C>T (p.Ala1131Val)
c.3440C>T (p.Ala1147Val)
c.3500C>T (p.Ala1167Val)
c.3050C>T (p.Ala1017Val)
c.1352C>T (p.Ala451Val)
c.1169C>T (p.Ala390Val)
c.3401C>T (p.Ala1134Val)
c.3353C>T (p.Ala1118Val)
c.3122C>T (p.Ala1041Val)
c.3023C>T (p.Ala1008Val)
c.2204C>T (p.Ala735Val)
n.3755C>T
13g.51941101G>CCA388026009ATP7Bc.*1186C>G (n.*1186C>G)
c.*2280C>G (n.*2280C>G)
c.2915C>G (p.Ala972Gly)
c.3536C>G (p.Ala1179Gly)
c.3203C>G (p.Ala1068Gly)
c.3284C>G (p.Ala1095Gly)
c.3302C>G (p.Ala1101Gly)
n.3675C>G
n.3899C>G
c.2471C>G (p.Ala824Gly)
c.2246C>G (p.Ala749Gly)
c.3341C>G (p.Ala1114Gly)
c.1314C>G
c.*637C>G (n.*637C>G)
n.4280C>G
n.2881C>G
c.3392C>G (p.Ala1131Gly)
c.3440C>G (p.Ala1147Gly)
c.3500C>G (p.Ala1167Gly)
c.3050C>G (p.Ala1017Gly)
c.1352C>G (p.Ala451Gly)
c.1169C>G (p.Ala390Gly)
c.3401C>G (p.Ala1134Gly)
c.3353C>G (p.Ala1118Gly)
c.3122C>G (p.Ala1041Gly)
c.3023C>G (p.Ala1008Gly)
c.2204C>G (p.Ala735Gly)
n.3755C>G
13g.51941101G>TCA388026010ATP7Bc.*1186C>A (n.*1186C>A)
c.*2280C>A (n.*2280C>A)
c.2915C>A (p.Ala972Asp)
c.3536C>A (p.Ala1179Asp)
c.3203C>A (p.Ala1068Asp)
c.3284C>A (p.Ala1095Asp)
c.3302C>A (p.Ala1101Asp)
n.3675C>A
n.3899C>A
c.2471C>A (p.Ala824Asp)
c.2246C>A (p.Ala749Asp)
c.3341C>A (p.Ala1114Asp)
c.1314C>A
c.*637C>A (n.*637C>A)
n.4280C>A
n.2881C>A
c.3392C>A (p.Ala1131Asp)
c.3440C>A (p.Ala1147Asp)
c.3500C>A (p.Ala1167Asp)
c.3050C>A (p.Ala1017Asp)
c.1352C>A (p.Ala451Asp)
c.1169C>A (p.Ala390Asp)
c.3401C>A (p.Ala1134Asp)
c.3353C>A (p.Ala1118Asp)
c.3122C>A (p.Ala1041Asp)
c.3023C>A (p.Ala1008Asp)
c.2204C>A (p.Ala735Asp)
n.3755C>A
13g.51941102C>ACA388026011ATP7Bc.*1185G>T (n.*1185G>T)
c.*2279G>T (n.*2279G>T)
c.2914G>T (p.Ala972Ser)
c.3535G>T (p.Ala1179Ser)
c.3202G>T (p.Ala1068Ser)
c.3283G>T (p.Ala1095Ser)
c.3301G>T (p.Ala1101Ser)
n.3674G>T
n.3898G>T
c.2470G>T (p.Ala824Ser)
c.2245G>T (p.Ala749Ser)
c.3340G>T (p.Ala1114Ser)
c.1313G>T
c.*636G>T (n.*636G>T)
n.4279G>T
n.2880G>T
c.3391G>T (p.Ala1131Ser)
c.3439G>T (p.Ala1147Ser)
c.3499G>T (p.Ala1167Ser)
c.3049G>T (p.Ala1017Ser)
c.1351G>T (p.Ala451Ser)
c.1168G>T (p.Ala390Ser)
c.3400G>T (p.Ala1134Ser)
c.3352G>T (p.Ala1118Ser)
c.3121G>T (p.Ala1041Ser)
c.3022G>T (p.Ala1008Ser)
c.2203G>T (p.Ala735Ser)
n.3754G>T
 gnomAD v4
13g.51941102C>GCA388026012ATP7Bc.*1185G>C (n.*1185G>C)
c.*2279G>C (n.*2279G>C)
c.2914G>C (p.Ala972Pro)
c.3535G>C (p.Ala1179Pro)
c.3202G>C (p.Ala1068Pro)
c.3283G>C (p.Ala1095Pro)
c.3301G>C (p.Ala1101Pro)
n.3674G>C
n.3898G>C
c.2470G>C (p.Ala824Pro)
c.2245G>C (p.Ala749Pro)
c.3340G>C (p.Ala1114Pro)
c.1313G>C
c.*636G>C (n.*636G>C)
n.4279G>C
n.2880G>C
c.3391G>C (p.Ala1131Pro)
c.3439G>C (p.Ala1147Pro)
c.3499G>C (p.Ala1167Pro)
c.3049G>C (p.Ala1017Pro)
c.1351G>C (p.Ala451Pro)
c.1168G>C (p.Ala390Pro)
c.3400G>C (p.Ala1134Pro)
c.3352G>C (p.Ala1118Pro)
c.3121G>C (p.Ala1041Pro)
c.3022G>C (p.Ala1008Pro)
c.2203G>C (p.Ala735Pro)
n.3754G>C
13g.51941102C>TCA388026014ATP7Bc.*1185G>A (n.*1185G>A)
c.*2279G>A (n.*2279G>A)
c.2914G>A (p.Ala972Thr)
c.3535G>A (p.Ala1179Thr)
c.3202G>A (p.Ala1068Thr)
c.3283G>A (p.Ala1095Thr)
c.3301G>A (p.Ala1101Thr)
n.3674G>A
n.3898G>A
c.2470G>A (p.Ala824Thr)
c.2245G>A (p.Ala749Thr)
c.3340G>A (p.Ala1114Thr)
c.1313G>A
c.*636G>A (n.*636G>A)
n.4279G>A
n.2880G>A
c.3391G>A (p.Ala1131Thr)
c.3439G>A (p.Ala1147Thr)
c.3499G>A (p.Ala1167Thr)
c.3049G>A (p.Ala1017Thr)
c.1351G>A (p.Ala451Thr)
c.1168G>A (p.Ala390Thr)
c.3400G>A (p.Ala1134Thr)
c.3352G>A (p.Ala1118Thr)
c.3121G>A (p.Ala1041Thr)
c.3022G>A (p.Ala1008Thr)
c.2203G>A (p.Ala735Thr)
n.3754G>A
 gnomAD v4
13g.51941107_51941110delCA2623119748ATP7Bc.*1182_*1185del (n.*1182_*1185del)
c.*2276_*2279del (n.*2276_*2279del)
c.2911_2914del (p.Thr971ProfsTer13)
c.3532_3535del (p.Thr1178ProfsTer13)
c.3199_3202del (p.Thr1067ProfsTer13)
c.3280_3283del (p.Thr1094ProfsTer13)
c.3298_3301del (p.Thr1100ProfsTer13)
n.3671_3674del
n.3895_3898del
c.2467_2470del (p.Thr823ProfsTer13)
c.2242_2245del (p.Thr748ProfsTer13)
c.3337_3340del (p.Thr1113ProfsTer13)
c.1310_1313del
c.*633_*636del (n.*633_*636del)
n.4276_4279del
n.2877_2880del
c.3388_3391del (p.Thr1130ProfsTer13)
c.3436_3439del (p.Thr1146ProfsTer13)
c.3496_3499del (p.Thr1166ProfsTer13)
c.3046_3049del (p.Thr1016ProfsTer13)
c.1348_1351del (p.Thr450ProfsTer13)
c.1165_1168del (p.Thr389ProfsTer13)
c.3397_3400del (p.Thr1133ProfsTer13)
c.3349_3352del (p.Thr1117ProfsTer13)
c.3118_3121del (p.Thr1040ProfsTer13)
c.3019_3022del (p.Thr1007ProfsTer13)
c.2200_2203del (p.Thr734ProfsTer13)
n.3751_3754del
 gnomAD v4
13g.51941103T>ACA483893937ATP7Bc.*1184A>T (n.*1184A>T)
c.*2278A>T (n.*2278A>T)
c.2913A>T (p.Thr971=)
c.3534A>T (p.Thr1178=)
c.3201A>T (p.Thr1067=)
c.3282A>T (p.Thr1094=)
c.3300A>T (p.Thr1100=)
n.3673A>T
n.3897A>T
c.2469A>T (p.Thr823=)
c.2244A>T (p.Thr748=)
c.3339A>T (p.Thr1113=)
c.1312A>T
c.*635A>T (n.*635A>T)
n.4278A>T
n.2879A>T
c.3390A>T (p.Thr1130=)
c.3438A>T (p.Thr1146=)
c.3498A>T (p.Thr1166=)
c.3048A>T (p.Thr1016=)
c.1350A>T (p.Thr450=)
c.1167A>T (p.Thr389=)
c.3399A>T (p.Thr1133=)
c.3351A>T (p.Thr1117=)
c.3120A>T (p.Thr1040=)
c.3021A>T (p.Thr1007=)
c.2202A>T (p.Thr734=)
n.3753A>T
13g.51941103T>CCA483893938ATP7Bc.*1184A>G (n.*1184A>G)
c.*2278A>G (n.*2278A>G)
c.2913A>G (p.Thr971=)
c.3534A>G (p.Thr1178=)
c.3201A>G (p.Thr1067=)
c.3282A>G (p.Thr1094=)
c.3300A>G (p.Thr1100=)
n.3673A>G
n.3897A>G
c.2469A>G (p.Thr823=)
c.2244A>G (p.Thr748=)
c.3339A>G (p.Thr1113=)
c.1312A>G
c.*635A>G (n.*635A>G)
n.4278A>G
n.2879A>G
c.3390A>G (p.Thr1130=)
c.3438A>G (p.Thr1146=)
c.3498A>G (p.Thr1166=)
c.3048A>G (p.Thr1016=)
c.1350A>G (p.Thr450=)
c.1167A>G (p.Thr389=)
c.3399A>G (p.Thr1133=)
c.3351A>G (p.Thr1117=)
c.3120A>G (p.Thr1040=)
c.3021A>G (p.Thr1007=)
c.2202A>G (p.Thr734=)
n.3753A>G
 ClinVar gnomAD v4
13g.51941103T>GCA483893939ATP7Bc.*1184A>C (n.*1184A>C)
c.*2278A>C (n.*2278A>C)
c.2913A>C (p.Thr971=)
c.3534A>C (p.Thr1178=)
c.3201A>C (p.Thr1067=)
c.3282A>C (p.Thr1094=)
c.3300A>C (p.Thr1100=)
n.3673A>C
n.3897A>C
c.2469A>C (p.Thr823=)
c.2244A>C (p.Thr748=)
c.3339A>C (p.Thr1113=)
c.1312A>C
c.*635A>C (n.*635A>C)
n.4278A>C
n.2879A>C
c.3390A>C (p.Thr1130=)
c.3438A>C (p.Thr1146=)
c.3498A>C (p.Thr1166=)
c.3048A>C (p.Thr1016=)
c.1350A>C (p.Thr450=)
c.1167A>C (p.Thr389=)
c.3399A>C (p.Thr1133=)
c.3351A>C (p.Thr1117=)
c.3120A>C (p.Thr1040=)
c.3021A>C (p.Thr1007=)
c.2202A>C (p.Thr734=)
n.3753A>C
13g.51941104G>ACA388026018ATP7Bc.*1183C>T (n.*1183C>T)
c.*2277C>T (n.*2277C>T)
c.2912C>T (p.Thr971Ile)
c.3533C>T (p.Thr1178Ile)
c.3200C>T (p.Thr1067Ile)
c.3281C>T (p.Thr1094Ile)
c.3299C>T (p.Thr1100Ile)
n.3672C>T
n.3896C>T
c.2468C>T (p.Thr823Ile)
c.2243C>T (p.Thr748Ile)
c.3338C>T (p.Thr1113Ile)
c.1311C>T
c.*634C>T (n.*634C>T)
n.4277C>T
n.2878C>T
c.3389C>T (p.Thr1130Ile)
c.3437C>T (p.Thr1146Ile)
c.3497C>T (p.Thr1166Ile)
c.3047C>T (p.Thr1016Ile)
c.1349C>T (p.Thr450Ile)
c.1166C>T (p.Thr389Ile)
c.3398C>T (p.Thr1133Ile)
c.3350C>T (p.Thr1117Ile)
c.3119C>T (p.Thr1040Ile)
c.3020C>T (p.Thr1007Ile)
c.2201C>T (p.Thr734Ile)
n.3752C>T
 ClinVar dbSNP
13g.51941104G>CCA388026025ATP7Bc.*1183C>G (n.*1183C>G)
c.*2277C>G (n.*2277C>G)
c.2912C>G (p.Thr971Arg)
c.3533C>G (p.Thr1178Arg)
c.3200C>G (p.Thr1067Arg)
c.3281C>G (p.Thr1094Arg)
c.3299C>G (p.Thr1100Arg)
n.3672C>G
n.3896C>G
c.2468C>G (p.Thr823Arg)
c.2243C>G (p.Thr748Arg)
c.3338C>G (p.Thr1113Arg)
c.1311C>G
c.*634C>G (n.*634C>G)
n.4277C>G
n.2878C>G
c.3389C>G (p.Thr1130Arg)
c.3437C>G (p.Thr1146Arg)
c.3497C>G (p.Thr1166Arg)
c.3047C>G (p.Thr1016Arg)
c.1349C>G (p.Thr450Arg)
c.1166C>G (p.Thr389Arg)
c.3398C>G (p.Thr1133Arg)
c.3350C>G (p.Thr1117Arg)
c.3119C>G (p.Thr1040Arg)
c.3020C>G (p.Thr1007Arg)
c.2201C>G (p.Thr734Arg)
n.3752C>G
13g.51941104G=CA2091559357ATP7Bc.*1183C= (n.*1183C=)
c.*2277C= (n.*2277C=)
c.2912C= (p.Thr971=)
c.3533C= (p.Thr1178=)
c.3200C= (p.Thr1067=)
c.3281C= (p.Thr1094=)
c.3299C= (p.Thr1100=)
n.3672C=
n.3896C=
c.2468C= (p.Thr823=)
c.2243C= (p.Thr748=)
c.3338C= (p.Thr1113=)
c.1311C=
c.*634C= (n.*634C=)
n.4277C=
n.2878C=
c.3389C= (p.Thr1130=)
c.3437C= (p.Thr1146=)
c.3497C= (p.Thr1166=)
c.3047C= (p.Thr1016=)
c.1349C= (p.Thr450=)
c.1166C= (p.Thr389=)
c.3398C= (p.Thr1133=)
c.3350C= (p.Thr1117=)
c.3119C= (p.Thr1040=)
c.3020C= (p.Thr1007=)
c.2201C= (p.Thr734=)
n.3752C=
13g.51941104G>TCA388026021ATP7Bc.*1183C>A (n.*1183C>A)
c.*2277C>A (n.*2277C>A)
c.2912C>A (p.Thr971Lys)
c.3533C>A (p.Thr1178Lys)
c.3200C>A (p.Thr1067Lys)
c.3281C>A (p.Thr1094Lys)
c.3299C>A (p.Thr1100Lys)
n.3672C>A
n.3896C>A
c.2468C>A (p.Thr823Lys)
c.2243C>A (p.Thr748Lys)
c.3338C>A (p.Thr1113Lys)
c.1311C>A
c.*634C>A (n.*634C>A)
n.4277C>A
n.2878C>A
c.3389C>A (p.Thr1130Lys)
c.3437C>A (p.Thr1146Lys)
c.3497C>A (p.Thr1166Lys)
c.3047C>A (p.Thr1016Lys)
c.1349C>A (p.Thr450Lys)
c.1166C>A (p.Thr389Lys)
c.3398C>A (p.Thr1133Lys)
c.3350C>A (p.Thr1117Lys)
c.3119C>A (p.Thr1040Lys)
c.3020C>A (p.Thr1007Lys)
c.2201C>A (p.Thr734Lys)
n.3752C>A
13g.51941105T>ACA388026026ATP7Bc.*1182A>T (n.*1182A>T)
c.*2276A>T (n.*2276A>T)
c.2911A>T (p.Thr971Ser)
c.3532A>T (p.Thr1178Ser)
c.3199A>T (p.Thr1067Ser)
c.3280A>T (p.Thr1094Ser)
c.3298A>T (p.Thr1100Ser)
n.3671A>T
n.3895A>T
c.2467A>T (p.Thr823Ser)
c.2242A>T (p.Thr748Ser)
c.3337A>T (p.Thr1113Ser)
c.1310A>T
c.*633A>T (n.*633A>T)
n.4276A>T
n.2877A>T
c.3388A>T (p.Thr1130Ser)
c.3436A>T (p.Thr1146Ser)
c.3496A>T (p.Thr1166Ser)
c.3046A>T (p.Thr1016Ser)
c.1348A>T (p.Thr450Ser)
c.1165A>T (p.Thr389Ser)
c.3397A>T (p.Thr1133Ser)
c.3349A>T (p.Thr1117Ser)
c.3118A>T (p.Thr1040Ser)
c.3019A>T (p.Thr1007Ser)
c.2200A>T (p.Thr734Ser)
n.3751A>T
13g.51941105T>CCA388026028ATP7Bc.*1182A>G (n.*1182A>G)
c.*2276A>G (n.*2276A>G)
c.2911A>G (p.Thr971Ala)
c.3532A>G (p.Thr1178Ala)
c.3199A>G (p.Thr1067Ala)
c.3280A>G (p.Thr1094Ala)
c.3298A>G (p.Thr1100Ala)
n.3671A>G
n.3895A>G
c.2467A>G (p.Thr823Ala)
c.2242A>G (p.Thr748Ala)
c.3337A>G (p.Thr1113Ala)
c.1310A>G
c.*633A>G (n.*633A>G)
n.4276A>G
n.2877A>G
c.3388A>G (p.Thr1130Ala)
c.3436A>G (p.Thr1146Ala)
c.3496A>G (p.Thr1166Ala)
c.3046A>G (p.Thr1016Ala)
c.1348A>G (p.Thr450Ala)
c.1165A>G (p.Thr389Ala)
c.3397A>G (p.Thr1133Ala)
c.3349A>G (p.Thr1117Ala)
c.3118A>G (p.Thr1040Ala)
c.3019A>G (p.Thr1007Ala)
c.2200A>G (p.Thr734Ala)
n.3751A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51941105T>GCA388026029ATP7Bc.*1182A>C (n.*1182A>C)
c.*2276A>C (n.*2276A>C)
c.2911A>C (p.Thr971Pro)
c.3532A>C (p.Thr1178Pro)
c.3199A>C (p.Thr1067Pro)
c.3280A>C (p.Thr1094Pro)
c.3298A>C (p.Thr1100Pro)
n.3671A>C
n.3895A>C
c.2467A>C (p.Thr823Pro)
c.2242A>C (p.Thr748Pro)
c.3337A>C (p.Thr1113Pro)
c.1310A>C
c.*633A>C (n.*633A>C)
n.4276A>C
n.2877A>C
c.3388A>C (p.Thr1130Pro)
c.3436A>C (p.Thr1146Pro)
c.3496A>C (p.Thr1166Pro)
c.3046A>C (p.Thr1016Pro)
c.1348A>C (p.Thr450Pro)
c.1165A>C (p.Thr389Pro)
c.3397A>C (p.Thr1133Pro)
c.3349A>C (p.Thr1117Pro)
c.3118A>C (p.Thr1040Pro)
c.3019A>C (p.Thr1007Pro)
c.2200A>C (p.Thr734Pro)
n.3751A>C
 ClinVar gnomAD v4
13g.51941105T=CA2091559361ATP7Bc.*1182A= (n.*1182A=)
c.*2276A= (n.*2276A=)
c.2911A= (p.Thr971=)
c.3532A= (p.Thr1178=)
c.3199A= (p.Thr1067=)
c.3280A= (p.Thr1094=)
c.3298A= (p.Thr1100=)
n.3671A=
n.3895A=
c.2467A= (p.Thr823=)
c.2242A= (p.Thr748=)
c.3337A= (p.Thr1113=)
c.1310A=
c.*633A= (n.*633A=)
n.4276A=
n.2877A=
c.3388A= (p.Thr1130=)
c.3436A= (p.Thr1146=)
c.3496A= (p.Thr1166=)
c.3046A= (p.Thr1016=)
c.1348A= (p.Thr450=)
c.1165A= (p.Thr389=)
c.3397A= (p.Thr1133=)
c.3349A= (p.Thr1117=)
c.3118A= (p.Thr1040=)
c.3019A= (p.Thr1007=)
c.2200A= (p.Thr734=)
n.3751A=
13g.51941106C>ACA388026030ATP7Bc.*1181G>T (n.*1181G>T)
c.*2275G>T (n.*2275G>T)
c.2910G>T (p.Gln970His)
c.3531G>T (p.Gln1177His)
c.3198G>T (p.Gln1066His)
c.3279G>T (p.Gln1093His)
c.3297G>T (p.Gln1099His)
n.3670G>T
n.3894G>T
c.2466G>T (p.Gln822His)
c.2241G>T (p.Gln747His)
c.3336G>T (p.Gln1112His)
c.1309G>T
c.*632G>T (n.*632G>T)
n.4275G>T
n.2876G>T
c.3387G>T (p.Gln1129His)
c.3435G>T (p.Gln1145His)
c.3495G>T (p.Gln1165His)
c.3045G>T (p.Gln1015His)
c.1347G>T (p.Gln449His)
c.1164G>T (p.Gln388His)
c.3396G>T (p.Gln1132His)
c.3348G>T (p.Gln1116His)
c.3117G>T (p.Gln1039His)
c.3018G>T (p.Gln1006His)
c.2199G>T (p.Gln733His)
n.3750G>T
13g.51941106C>GCA388026033ATP7Bc.*1181G>C (n.*1181G>C)
c.*2275G>C (n.*2275G>C)
c.2910G>C (p.Gln970His)
c.3531G>C (p.Gln1177His)
c.3198G>C (p.Gln1066His)
c.3279G>C (p.Gln1093His)
c.3297G>C (p.Gln1099His)
n.3670G>C
n.3894G>C
c.2466G>C (p.Gln822His)
c.2241G>C (p.Gln747His)
c.3336G>C (p.Gln1112His)
c.1309G>C
c.*632G>C (n.*632G>C)
n.4275G>C
n.2876G>C
c.3387G>C (p.Gln1129His)
c.3435G>C (p.Gln1145His)
c.3495G>C (p.Gln1165His)
c.3045G>C (p.Gln1015His)
c.1347G>C (p.Gln449His)
c.1164G>C (p.Gln388His)
c.3396G>C (p.Gln1132His)
c.3348G>C (p.Gln1116His)
c.3117G>C (p.Gln1039His)
c.3018G>C (p.Gln1006His)
c.2199G>C (p.Gln733His)
n.3750G>C
 gnomAD v4
13g.51941106C>TCA483893940ATP7Bc.*1181G>A (n.*1181G>A)
c.*2275G>A (n.*2275G>A)
c.2910G>A (p.Gln970=)
c.3531G>A (p.Gln1177=)
c.3198G>A (p.Gln1066=)
c.3279G>A (p.Gln1093=)
c.3297G>A (p.Gln1099=)
n.3670G>A
n.3894G>A
c.2466G>A (p.Gln822=)
c.2241G>A (p.Gln747=)
c.3336G>A (p.Gln1112=)
c.1309G>A
c.*632G>A (n.*632G>A)
n.4275G>A
n.2876G>A
c.3387G>A (p.Gln1129=)
c.3435G>A (p.Gln1145=)
c.3495G>A (p.Gln1165=)
c.3045G>A (p.Gln1015=)
c.1347G>A (p.Gln449=)
c.1164G>A (p.Gln388=)
c.3396G>A (p.Gln1132=)
c.3348G>A (p.Gln1116=)
c.3117G>A (p.Gln1039=)
c.3018G>A (p.Gln1006=)
c.2199G>A (p.Gln733=)
n.3750G>A
13g.51941107T>ACA388026047ATP7Bc.*1180A>T (n.*1180A>T)
c.*2274A>T (n.*2274A>T)
c.2909A>T (p.Gln970Leu)
c.3530A>T (p.Gln1177Leu)
c.3197A>T (p.Gln1066Leu)
c.3278A>T (p.Gln1093Leu)
c.3296A>T (p.Gln1099Leu)
n.3669A>T
n.3893A>T
c.2465A>T (p.Gln822Leu)
c.2240A>T (p.Gln747Leu)
c.3335A>T (p.Gln1112Leu)
c.1308A>T
c.*631A>T (n.*631A>T)
n.4274A>T
n.2875A>T
c.3386A>T (p.Gln1129Leu)
c.3434A>T (p.Gln1145Leu)
c.3494A>T (p.Gln1165Leu)
c.3044A>T (p.Gln1015Leu)
c.1346A>T (p.Gln449Leu)
c.1163A>T (p.Gln388Leu)
c.3395A>T (p.Gln1132Leu)
c.3347A>T (p.Gln1116Leu)
c.3116A>T (p.Gln1039Leu)
c.3017A>T (p.Gln1006Leu)
c.2198A>T (p.Gln733Leu)
n.3749A>T
13g.51941107T>CCA388026050ATP7Bc.*1180A>G (n.*1180A>G)
c.*2274A>G (n.*2274A>G)
c.2909A>G (p.Gln970Arg)
c.3530A>G (p.Gln1177Arg)
c.3197A>G (p.Gln1066Arg)
c.3278A>G (p.Gln1093Arg)
c.3296A>G (p.Gln1099Arg)
n.3669A>G
n.3893A>G
c.2465A>G (p.Gln822Arg)
c.2240A>G (p.Gln747Arg)
c.3335A>G (p.Gln1112Arg)
c.1308A>G
c.*631A>G (n.*631A>G)
n.4274A>G
n.2875A>G
c.3386A>G (p.Gln1129Arg)
c.3434A>G (p.Gln1145Arg)
c.3494A>G (p.Gln1165Arg)
c.3044A>G (p.Gln1015Arg)
c.1346A>G (p.Gln449Arg)
c.1163A>G (p.Gln388Arg)
c.3395A>G (p.Gln1132Arg)
c.3347A>G (p.Gln1116Arg)
c.3116A>G (p.Gln1039Arg)
c.3017A>G (p.Gln1006Arg)
c.2198A>G (p.Gln733Arg)
n.3749A>G
13g.51941107T>GCA388026052ATP7Bc.*1180A>C (n.*1180A>C)
c.*2274A>C (n.*2274A>C)
c.2909A>C (p.Gln970Pro)
c.3530A>C (p.Gln1177Pro)
c.3197A>C (p.Gln1066Pro)
c.3278A>C (p.Gln1093Pro)
c.3296A>C (p.Gln1099Pro)
n.3669A>C
n.3893A>C
c.2465A>C (p.Gln822Pro)
c.2240A>C (p.Gln747Pro)
c.3335A>C (p.Gln1112Pro)
c.1308A>C
c.*631A>C (n.*631A>C)
n.4274A>C
n.2875A>C
c.3386A>C (p.Gln1129Pro)
c.3434A>C (p.Gln1145Pro)
c.3494A>C (p.Gln1165Pro)
c.3044A>C (p.Gln1015Pro)
c.1346A>C (p.Gln449Pro)
c.1163A>C (p.Gln388Pro)
c.3395A>C (p.Gln1132Pro)
c.3347A>C (p.Gln1116Pro)
c.3116A>C (p.Gln1039Pro)
c.3017A>C (p.Gln1006Pro)
c.2198A>C (p.Gln733Pro)
n.3749A>C
13g.51941108G>ACA16041665ATP7Bc.*1179C>T (n.*1179C>T)
c.*2273C>T (n.*2273C>T)
c.2908C>T (p.Gln970Ter)
c.3529C>T (p.Gln1177Ter)
c.3196C>T (p.Gln1066Ter)
c.3277C>T (p.Gln1093Ter)
c.3295C>T (p.Gln1099Ter)
n.3668C>T
n.3892C>T
c.2464C>T (p.Gln822Ter)
c.2239C>T (p.Gln747Ter)
c.3334C>T (p.Gln1112Ter)
c.1307C>T
c.*630C>T (n.*630C>T)
n.4273C>T
n.2874C>T
c.3385C>T (p.Gln1129Ter)
c.3433C>T (p.Gln1145Ter)
c.3493C>T (p.Gln1165Ter)
c.3043C>T (p.Gln1015Ter)
c.1345C>T (p.Gln449Ter)
c.1162C>T (p.Gln388Ter)
c.3394C>T (p.Gln1132Ter)
c.3346C>T (p.Gln1116Ter)
c.3115C>T (p.Gln1039Ter)
c.3016C>T (p.Gln1006Ter)
c.2197C>T (p.Gln733Ter)
n.3748C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51941108G>CCA388026054ATP7Bc.*1179C>G (n.*1179C>G)
c.*2273C>G (n.*2273C>G)
c.2908C>G (p.Gln970Glu)
c.3529C>G (p.Gln1177Glu)
c.3196C>G (p.Gln1066Glu)
c.3277C>G (p.Gln1093Glu)
c.3295C>G (p.Gln1099Glu)
n.3668C>G
n.3892C>G
c.2464C>G (p.Gln822Glu)
c.2239C>G (p.Gln747Glu)
c.3334C>G (p.Gln1112Glu)
c.1307C>G
c.*630C>G (n.*630C>G)
n.4273C>G
n.2874C>G
c.3385C>G (p.Gln1129Glu)
c.3433C>G (p.Gln1145Glu)
c.3493C>G (p.Gln1165Glu)
c.3043C>G (p.Gln1015Glu)
c.1345C>G (p.Gln449Glu)
c.1162C>G (p.Gln388Glu)
c.3394C>G (p.Gln1132Glu)
c.3346C>G (p.Gln1116Glu)
c.3115C>G (p.Gln1039Glu)
c.3016C>G (p.Gln1006Glu)
c.2197C>G (p.Gln733Glu)
n.3748C>G
13g.51941108G=CA2091559369ATP7Bc.*1179C= (n.*1179C=)
c.*2273C= (n.*2273C=)
c.2908C= (p.Gln970=)
c.3529C= (p.Gln1177=)
c.3196C= (p.Gln1066=)
c.3277C= (p.Gln1093=)
c.3295C= (p.Gln1099=)
n.3668C=
n.3892C=
c.2464C= (p.Gln822=)
c.2239C= (p.Gln747=)
c.3334C= (p.Gln1112=)
c.1307C=
c.*630C= (n.*630C=)
n.4273C=
n.2874C=
c.3385C= (p.Gln1129=)
c.3433C= (p.Gln1145=)
c.3493C= (p.Gln1165=)
c.3043C= (p.Gln1015=)
c.1345C= (p.Gln449=)
c.1162C= (p.Gln388=)
c.3394C= (p.Gln1132=)
c.3346C= (p.Gln1116=)
c.3115C= (p.Gln1039=)
c.3016C= (p.Gln1006=)
c.2197C= (p.Gln733=)
n.3748C=
13g.51941108G>TCA388026057ATP7Bc.*1179C>A (n.*1179C>A)
c.*2273C>A (n.*2273C>A)
c.2908C>A (p.Gln970Lys)
c.3529C>A (p.Gln1177Lys)
c.3196C>A (p.Gln1066Lys)
c.3277C>A (p.Gln1093Lys)
c.3295C>A (p.Gln1099Lys)
n.3668C>A
n.3892C>A
c.2464C>A (p.Gln822Lys)
c.2239C>A (p.Gln747Lys)
c.3334C>A (p.Gln1112Lys)
c.1307C>A
c.*630C>A (n.*630C>A)
n.4273C>A
n.2874C>A
c.3385C>A (p.Gln1129Lys)
c.3433C>A (p.Gln1145Lys)
c.3493C>A (p.Gln1165Lys)
c.3043C>A (p.Gln1015Lys)
c.1345C>A (p.Gln449Lys)
c.1162C>A (p.Gln388Lys)
c.3394C>A (p.Gln1132Lys)
c.3346C>A (p.Gln1116Lys)
c.3115C>A (p.Gln1039Lys)
c.3016C>A (p.Gln1006Lys)
c.2197C>A (p.Gln733Lys)
n.3748C>A
13g.51941109T>ACA483893941ATP7Bc.*1178A>T (n.*1178A>T)
c.*2272A>T (n.*2272A>T)
c.2907A>T (p.Gly969=)
c.3528A>T (p.Gly1176=)
c.3195A>T (p.Gly1065=)
c.3276A>T (p.Gly1092=)
c.3294A>T (p.Gly1098=)
n.3667A>T
n.3891A>T
c.2463A>T (p.Gly821=)
c.2238A>T (p.Gly746=)
c.3333A>T (p.Gly1111=)
c.1306A>T
c.*629A>T (n.*629A>T)
n.4272A>T
n.2873A>T
c.3384A>T (p.Gly1128=)
c.3432A>T (p.Gly1144=)
c.3492A>T (p.Gly1164=)
c.3042A>T (p.Gly1014=)
c.1344A>T (p.Gly448=)
c.1161A>T (p.Gly387=)
c.3393A>T (p.Gly1131=)
c.3345A>T (p.Gly1115=)
c.3114A>T (p.Gly1038=)
c.3015A>T (p.Gly1005=)
c.2196A>T (p.Gly732=)
n.3747A>T
13g.51941109T>CCA483893942ATP7Bc.*1178A>G (n.*1178A>G)
c.*2272A>G (n.*2272A>G)
c.2907A>G (p.Gly969=)
c.3528A>G (p.Gly1176=)
c.3195A>G (p.Gly1065=)
c.3276A>G (p.Gly1092=)
c.3294A>G (p.Gly1098=)
n.3667A>G
n.3891A>G
c.2463A>G (p.Gly821=)
c.2238A>G (p.Gly746=)
c.3333A>G (p.Gly1111=)
c.1306A>G
c.*629A>G (n.*629A>G)
n.4272A>G
n.2873A>G
c.3384A>G (p.Gly1128=)
c.3432A>G (p.Gly1144=)
c.3492A>G (p.Gly1164=)
c.3042A>G (p.Gly1014=)
c.1344A>G (p.Gly448=)
c.1161A>G (p.Gly387=)
c.3393A>G (p.Gly1131=)
c.3345A>G (p.Gly1115=)
c.3114A>G (p.Gly1038=)
c.3015A>G (p.Gly1005=)
c.2196A>G (p.Gly732=)
n.3747A>G
13g.51941109T>GCA483893943ATP7Bc.*1178A>C (n.*1178A>C)
c.*2272A>C (n.*2272A>C)
c.2907A>C (p.Gly969=)
c.3528A>C (p.Gly1176=)
c.3195A>C (p.Gly1065=)
c.3276A>C (p.Gly1092=)
c.3294A>C (p.Gly1098=)
n.3667A>C
n.3891A>C
c.2463A>C (p.Gly821=)
c.2238A>C (p.Gly746=)
c.3333A>C (p.Gly1111=)
c.1306A>C
c.*629A>C (n.*629A>C)
n.4272A>C
n.2873A>C
c.3384A>C (p.Gly1128=)
c.3432A>C (p.Gly1144=)
c.3492A>C (p.Gly1164=)
c.3042A>C (p.Gly1014=)
c.1344A>C (p.Gly448=)
c.1161A>C (p.Gly387=)
c.3393A>C (p.Gly1131=)
c.3345A>C (p.Gly1115=)
c.3114A>C (p.Gly1038=)
c.3015A>C (p.Gly1005=)
c.2196A>C (p.Gly732=)
n.3747A>C
13g.51941111_51941115delCA2695199762ATP7Bc.*1174_*1178del (n.*1174_*1178del)
c.*2268_*2272del (n.*2268_*2272del)
c.2903_2907del (p.Lys968ThrfsTer9)
c.3524_3528del (p.Lys1175ThrfsTer9)
c.3191_3195del (p.Lys1064ThrfsTer9)
c.3272_3276del (p.Lys1091ThrfsTer9)
c.3290_3294del (p.Lys1097ThrfsTer9)
n.3663_3667del
n.3887_3891del
c.2459_2463del (p.Lys820ThrfsTer9)
c.2234_2238del (p.Lys745ThrfsTer9)
c.3329_3333del (p.Lys1110ThrfsTer9)
c.1302_1306del
c.*625_*629del (n.*625_*629del)
n.4268_4272del
n.2869_2873del
c.3380_3384del (p.Lys1127ThrfsTer9)
c.3428_3432del (p.Lys1143ThrfsTer9)
c.3488_3492del (p.Lys1163ThrfsTer9)
c.3038_3042del (p.Lys1013ThrfsTer9)
c.1340_1344del (p.Lys447ThrfsTer9)
c.1157_1161del (p.Lys386ThrfsTer9)
c.3389_3393del (p.Lys1130ThrfsTer9)
c.3341_3345del (p.Lys1114ThrfsTer9)
c.3110_3114del (p.Lys1037ThrfsTer9)
c.3011_3015del (p.Lys1004ThrfsTer9)
c.2192_2196del (p.Lys731ThrfsTer9)
n.3743_3747del
 ClinVar
13g.51941110C>ACA388026069ATP7Bc.*1177G>T (n.*1177G>T)
c.*2271G>T (n.*2271G>T)
c.2906G>T (p.Gly969Val)
c.3527G>T (p.Gly1176Val)
c.3194G>T (p.Gly1065Val)
c.3275G>T (p.Gly1092Val)
c.3293G>T (p.Gly1098Val)
n.3666G>T
n.3890G>T
c.2462G>T (p.Gly821Val)
c.2237G>T (p.Gly746Val)
c.3332G>T (p.Gly1111Val)
c.1305G>T
c.*628G>T (n.*628G>T)
n.4271G>T
n.2872G>T
c.3383G>T (p.Gly1128Val)
c.3431G>T (p.Gly1144Val)
c.3491G>T (p.Gly1164Val)
c.3041G>T (p.Gly1014Val)
c.1343G>T (p.Gly448Val)
c.1160G>T (p.Gly387Val)
c.3392G>T (p.Gly1131Val)
c.3344G>T (p.Gly1115Val)
c.3113G>T (p.Gly1038Val)
c.3014G>T (p.Gly1005Val)
c.2195G>T (p.Gly732Val)
n.3746G>T
13g.51941110C=CA2091559371ATP7Bc.*1177G= (n.*1177G=)
c.*2271G= (n.*2271G=)
c.2906G= (p.Gly969=)
c.3527G= (p.Gly1176=)
c.3194G= (p.Gly1065=)
c.3275G= (p.Gly1092=)
c.3293G= (p.Gly1098=)
n.3666G=
n.3890G=
c.2462G= (p.Gly821=)
c.2237G= (p.Gly746=)
c.3332G= (p.Gly1111=)
c.1305G=
c.*628G= (n.*628G=)
n.4271G=
n.2872G=
c.3383G= (p.Gly1128=)
c.3431G= (p.Gly1144=)
c.3491G= (p.Gly1164=)
c.3041G= (p.Gly1014=)
c.1343G= (p.Gly448=)
c.1160G= (p.Gly387=)
c.3392G= (p.Gly1131=)
c.3344G= (p.Gly1115=)
c.3113G= (p.Gly1038=)
c.3014G= (p.Gly1005=)
c.2195G= (p.Gly732=)
n.3746G=
13g.51941110C>GCA388026063ATP7Bc.*1177G>C (n.*1177G>C)
c.*2271G>C (n.*2271G>C)
c.2906G>C (p.Gly969Ala)
c.3527G>C (p.Gly1176Ala)
c.3194G>C (p.Gly1065Ala)
c.3275G>C (p.Gly1092Ala)
c.3293G>C (p.Gly1098Ala)
n.3666G>C
n.3890G>C
c.2462G>C (p.Gly821Ala)
c.2237G>C (p.Gly746Ala)
c.3332G>C (p.Gly1111Ala)
c.1305G>C
c.*628G>C (n.*628G>C)
n.4271G>C
n.2872G>C
c.3383G>C (p.Gly1128Ala)
c.3431G>C (p.Gly1144Ala)
c.3491G>C (p.Gly1164Ala)
c.3041G>C (p.Gly1014Ala)
c.1343G>C (p.Gly448Ala)
c.1160G>C (p.Gly387Ala)
c.3392G>C (p.Gly1131Ala)
c.3344G>C (p.Gly1115Ala)
c.3113G>C (p.Gly1038Ala)
c.3014G>C (p.Gly1005Ala)
c.2195G>C (p.Gly732Ala)
n.3746G>C
13g.51941110C>TCA388026065ATP7Bc.*1177G>A (n.*1177G>A)
c.*2271G>A (n.*2271G>A)
c.2906G>A (p.Gly969Glu)
c.3527G>A (p.Gly1176Glu)
c.3194G>A (p.Gly1065Glu)
c.3275G>A (p.Gly1092Glu)
c.3293G>A (p.Gly1098Glu)
n.3666G>A
n.3890G>A
c.2462G>A (p.Gly821Glu)
c.2237G>A (p.Gly746Glu)
c.3332G>A (p.Gly1111Glu)
c.1305G>A
c.*628G>A (n.*628G>A)
n.4271G>A
n.2872G>A
c.3383G>A (p.Gly1128Glu)
c.3431G>A (p.Gly1144Glu)
c.3491G>A (p.Gly1164Glu)
c.3041G>A (p.Gly1014Glu)
c.1343G>A (p.Gly448Glu)
c.1160G>A (p.Gly387Glu)
c.3392G>A (p.Gly1131Glu)
c.3344G>A (p.Gly1115Glu)
c.3113G>A (p.Gly1038Glu)
c.3014G>A (p.Gly1005Glu)
c.2195G>A (p.Gly732Glu)
n.3746G>A
 dbSNP gnomAD v2 gnomAD v4
13g.51941111C>ACA270738ATP7Bc.*1176G>T (n.*1176G>T)
c.*2270G>T (n.*2270G>T)
c.2905G>T (p.Gly969Ter)
c.3526G>T (p.Gly1176Ter)
c.3193G>T (p.Gly1065Ter)
c.3274G>T (p.Gly1092Ter)
c.3292G>T (p.Gly1098Ter)
n.3665G>T
n.3889G>T
c.2461G>T (p.Gly821Ter)
c.2236G>T (p.Gly746Ter)
c.3331G>T (p.Gly1111Ter)
c.1304G>T
c.*627G>T (n.*627G>T)
n.4270G>T
n.2871G>T
c.3382G>T (p.Gly1128Ter)
c.3430G>T (p.Gly1144Ter)
c.3490G>T (p.Gly1164Ter)
c.3040G>T (p.Gly1014Ter)
c.1342G>T (p.Gly448Ter)
c.1159G>T (p.Gly387Ter)
c.3391G>T (p.Gly1131Ter)
c.3343G>T (p.Gly1115Ter)
c.3112G>T (p.Gly1038Ter)
c.3013G>T (p.Gly1005Ter)
c.2194G>T (p.Gly732Ter)
n.3745G>T
 dbSNP
13g.51941111C=CA2091559378ATP7Bc.*1176G= (n.*1176G=)
c.*2270G= (n.*2270G=)
c.2905G= (p.Gly969=)
c.3526G= (p.Gly1176=)
c.3193G= (p.Gly1065=)
c.3274G= (p.Gly1092=)
c.3292G= (p.Gly1098=)
n.3665G=
n.3889G=
c.2461G= (p.Gly821=)
c.2236G= (p.Gly746=)
c.3331G= (p.Gly1111=)
c.1304G=
c.*627G= (n.*627G=)
n.4270G=
n.2871G=
c.3382G= (p.Gly1128=)
c.3430G= (p.Gly1144=)
c.3490G= (p.Gly1164=)
c.3040G= (p.Gly1014=)
c.1342G= (p.Gly448=)
c.1159G= (p.Gly387=)
c.3391G= (p.Gly1131=)
c.3343G= (p.Gly1115=)
c.3112G= (p.Gly1038=)
c.3013G= (p.Gly1005=)
c.2194G= (p.Gly732=)
n.3745G=
13g.51941111C>GCA388026079ATP7Bc.*1176G>C (n.*1176G>C)
c.*2270G>C (n.*2270G>C)
c.2905G>C (p.Gly969Arg)
c.3526G>C (p.Gly1176Arg)
c.3193G>C (p.Gly1065Arg)
c.3274G>C (p.Gly1092Arg)
c.3292G>C (p.Gly1098Arg)
n.3665G>C
n.3889G>C
c.2461G>C (p.Gly821Arg)
c.2236G>C (p.Gly746Arg)
c.3331G>C (p.Gly1111Arg)
c.1304G>C
c.*627G>C (n.*627G>C)
n.4270G>C
n.2871G>C
c.3382G>C (p.Gly1128Arg)
c.3430G>C (p.Gly1144Arg)
c.3490G>C (p.Gly1164Arg)
c.3040G>C (p.Gly1014Arg)
c.1342G>C (p.Gly448Arg)
c.1159G>C (p.Gly387Arg)
c.3391G>C (p.Gly1131Arg)
c.3343G>C (p.Gly1115Arg)
c.3112G>C (p.Gly1038Arg)
c.3013G>C (p.Gly1005Arg)
c.2194G>C (p.Gly732Arg)
n.3745G>C
13g.51941111C>TCA351338ATP7Bc.*1176G>A (n.*1176G>A)
c.*2270G>A (n.*2270G>A)
c.2905G>A (p.Gly969Arg)
c.3526G>A (p.Gly1176Arg)
c.3193G>A (p.Gly1065Arg)
c.3274G>A (p.Gly1092Arg)
c.3292G>A (p.Gly1098Arg)
n.3665G>A
n.3889G>A
c.2461G>A (p.Gly821Arg)
c.2236G>A (p.Gly746Arg)
c.3331G>A (p.Gly1111Arg)
c.1304G>A
c.*627G>A (n.*627G>A)
n.4270G>A
n.2871G>A
c.3382G>A (p.Gly1128Arg)
c.3430G>A (p.Gly1144Arg)
c.3490G>A (p.Gly1164Arg)
c.3040G>A (p.Gly1014Arg)
c.1342G>A (p.Gly448Arg)
c.1159G>A (p.Gly387Arg)
c.3391G>A (p.Gly1131Arg)
c.3343G>A (p.Gly1115Arg)
c.3112G>A (p.Gly1038Arg)
c.3013G>A (p.Gly1005Arg)
c.2194G>A (p.Gly732Arg)
n.3745G>A
 ClinVar dbSNP
13g.[51941111C>T;51941194A>G]CA351339ATP7Bc.[*1093T>C;*1176G>A] (n.[*1093T>C;*1176G>A])
c.[*2187T>C;*2270G>A] (n.[*2187T>C;*2270G>A])
c.[2822T>C;2905G>A] (p.[Ile941Thr;Gly969Arg])
c.[3443T>C;3526G>A] (p.[Ile1148Thr;Gly1176Arg])
c.[3110T>C;3193G>A] (p.[Ile1037Thr;Gly1065Arg])
c.[3191T>C;3274G>A] (p.[Ile1064Thr;Gly1092Arg])
c.[3209T>C;3292G>A] (p.[Ile1070Thr;Gly1098Arg])
n.[3582T>C;3665G>A]
n.[3806T>C;3889G>A]
c.[2378T>C;2461G>A] (p.[Ile793Thr;Gly821Arg])
c.[2153T>C;2236G>A] (p.[Ile718Thr;Gly746Arg])
c.[3248T>C;3331G>A] (p.[Ile1083Thr;Gly1111Arg])
c.[1221T>C;1304G>A]
c.[*544T>C;*627G>A] (n.[*544T>C;*627G>A])
n.[4187T>C;4270G>A]
n.[2788T>C;2871G>A]
c.[3299T>C;3382G>A] (p.[Ile1100Thr;Gly1128Arg])
c.[3347T>C;3430G>A] (p.[Ile1116Thr;Gly1144Arg])
c.[3407T>C;3490G>A] (p.[Ile1136Thr;Gly1164Arg])
c.[2957T>C;3040G>A] (p.[Ile986Thr;Gly1014Arg])
c.[1259T>C;1342G>A] (p.[Ile420Thr;Gly448Arg])
c.[1076T>C;1159G>A] (p.[Ile359Thr;Gly387Arg])
c.[3308T>C;3391G>A] (p.[Ile1103Thr;Gly1131Arg])
c.[3260T>C;3343G>A] (p.[Ile1087Thr;Gly1115Arg])
c.[3029T>C;3112G>A] (p.[Ile1010Thr;Gly1038Arg])
c.[2930T>C;3013G>A] (p.[Ile977Thr;Gly1005Arg])
c.[2111T>C;2194G>A] (p.[Ile704Thr;Gly732Arg])
n.[3662T>C;3745G>A]
13g.51941112T>ACA388026086ATP7Bc.*1175A>T (n.*1175A>T)
c.*2269A>T (n.*2269A>T)
c.2904A>T (p.Lys968Asn)
c.3525A>T (p.Lys1175Asn)
c.3192A>T (p.Lys1064Asn)
c.3273A>T (p.Lys1091Asn)
c.3291A>T (p.Lys1097Asn)
n.3664A>T
n.3888A>T
c.2460A>T (p.Lys820Asn)
c.2235A>T (p.Lys745Asn)
c.3330A>T (p.Lys1110Asn)
c.1303A>T
c.*626A>T (n.*626A>T)
n.4269A>T
n.2870A>T
c.3381A>T (p.Lys1127Asn)
c.3429A>T (p.Lys1143Asn)
c.3489A>T (p.Lys1163Asn)
c.3039A>T (p.Lys1013Asn)
c.1341A>T (p.Lys447Asn)
c.1158A>T (p.Lys386Asn)
c.3390A>T (p.Lys1130Asn)
c.3342A>T (p.Lys1114Asn)
c.3111A>T (p.Lys1037Asn)
c.3012A>T (p.Lys1004Asn)
c.2193A>T (p.Lys731Asn)
n.3744A>T
13g.51941112T>CCA483893944ATP7Bc.*1175A>G (n.*1175A>G)
c.*2269A>G (n.*2269A>G)
c.2904A>G (p.Lys968=)
c.3525A>G (p.Lys1175=)
c.3192A>G (p.Lys1064=)
c.3273A>G (p.Lys1091=)
c.3291A>G (p.Lys1097=)
n.3664A>G
n.3888A>G
c.2460A>G (p.Lys820=)
c.2235A>G (p.Lys745=)
c.3330A>G (p.Lys1110=)
c.1303A>G
c.*626A>G (n.*626A>G)
n.4269A>G
n.2870A>G
c.3381A>G (p.Lys1127=)
c.3429A>G (p.Lys1143=)
c.3489A>G (p.Lys1163=)
c.3039A>G (p.Lys1013=)
c.1341A>G (p.Lys447=)
c.1158A>G (p.Lys386=)
c.3390A>G (p.Lys1130=)
c.3342A>G (p.Lys1114=)
c.3111A>G (p.Lys1037=)
c.3012A>G (p.Lys1004=)
c.2193A>G (p.Lys731=)
n.3744A>G
 dbSNP
13g.51941112T>GCA388026089ATP7Bc.*1175A>C (n.*1175A>C)
c.*2269A>C (n.*2269A>C)
c.2904A>C (p.Lys968Asn)
c.3525A>C (p.Lys1175Asn)
c.3192A>C (p.Lys1064Asn)
c.3273A>C (p.Lys1091Asn)
c.3291A>C (p.Lys1097Asn)
n.3664A>C
n.3888A>C
c.2460A>C (p.Lys820Asn)
c.2235A>C (p.Lys745Asn)
c.3330A>C (p.Lys1110Asn)
c.1303A>C
c.*626A>C (n.*626A>C)
n.4269A>C
n.2870A>C
c.3381A>C (p.Lys1127Asn)
c.3429A>C (p.Lys1143Asn)
c.3489A>C (p.Lys1163Asn)
c.3039A>C (p.Lys1013Asn)
c.1341A>C (p.Lys447Asn)
c.1158A>C (p.Lys386Asn)
c.3390A>C (p.Lys1130Asn)
c.3342A>C (p.Lys1114Asn)
c.3111A>C (p.Lys1037Asn)
c.3012A>C (p.Lys1004Asn)
c.2193A>C (p.Lys731Asn)
n.3744A>C
13g.51941112T=CA2091559382ATP7Bc.*1175A= (n.*1175A=)
c.*2269A= (n.*2269A=)
c.2904A= (p.Lys968=)
c.3525A= (p.Lys1175=)
c.3192A= (p.Lys1064=)
c.3273A= (p.Lys1091=)
c.3291A= (p.Lys1097=)
n.3664A=
n.3888A=
c.2460A= (p.Lys820=)
c.2235A= (p.Lys745=)
c.3330A= (p.Lys1110=)
c.1303A=
c.*626A= (n.*626A=)
n.4269A=
n.2870A=
c.3381A= (p.Lys1127=)
c.3429A= (p.Lys1143=)
c.3489A= (p.Lys1163=)
c.3039A= (p.Lys1013=)
c.1341A= (p.Lys447=)
c.1158A= (p.Lys386=)
c.3390A= (p.Lys1130=)
c.3342A= (p.Lys1114=)
c.3111A= (p.Lys1037=)
c.3012A= (p.Lys1004=)
c.2193A= (p.Lys731=)
n.3744A=
13g.51941113T>ACA388026099ATP7Bc.*1174A>T (n.*1174A>T)
c.*2268A>T (n.*2268A>T)
c.2903A>T (p.Lys968Ile)
c.3524A>T (p.Lys1175Ile)
c.3191A>T (p.Lys1064Ile)
c.3272A>T (p.Lys1091Ile)
c.3290A>T (p.Lys1097Ile)
n.3663A>T
n.3887A>T
c.2459A>T (p.Lys820Ile)
c.2234A>T (p.Lys745Ile)
c.3329A>T (p.Lys1110Ile)
c.1302A>T
c.*625A>T (n.*625A>T)
n.4268A>T
n.2869A>T
c.3380A>T (p.Lys1127Ile)
c.3428A>T (p.Lys1143Ile)
c.3488A>T (p.Lys1163Ile)
c.3038A>T (p.Lys1013Ile)
c.1340A>T (p.Lys447Ile)
c.1157A>T (p.Lys386Ile)
c.3389A>T (p.Lys1130Ile)
c.3341A>T (p.Lys1114Ile)
c.3110A>T (p.Lys1037Ile)
c.3011A>T (p.Lys1004Ile)
c.2192A>T (p.Lys731Ile)
n.3743A>T
13g.51941113T>CCA388026093ATP7Bc.*1174A>G (n.*1174A>G)
c.*2268A>G (n.*2268A>G)
c.2903A>G (p.Lys968Arg)
c.3524A>G (p.Lys1175Arg)
c.3191A>G (p.Lys1064Arg)
c.3272A>G (p.Lys1091Arg)
c.3290A>G (p.Lys1097Arg)
n.3663A>G
n.3887A>G
c.2459A>G (p.Lys820Arg)
c.2234A>G (p.Lys745Arg)
c.3329A>G (p.Lys1110Arg)
c.1302A>G
c.*625A>G (n.*625A>G)
n.4268A>G
n.2869A>G
c.3380A>G (p.Lys1127Arg)
c.3428A>G (p.Lys1143Arg)
c.3488A>G (p.Lys1163Arg)
c.3038A>G (p.Lys1013Arg)
c.1340A>G (p.Lys447Arg)
c.1157A>G (p.Lys386Arg)
c.3389A>G (p.Lys1130Arg)
c.3341A>G (p.Lys1114Arg)
c.3110A>G (p.Lys1037Arg)
c.3011A>G (p.Lys1004Arg)
c.2192A>G (p.Lys731Arg)
n.3743A>G
 gnomAD v4
13g.51941113T>GCA250077133ATP7Bc.*1174A>C (n.*1174A>C)
c.*2268A>C (n.*2268A>C)
c.2903A>C (p.Lys968Thr)
c.3524A>C (p.Lys1175Thr)
c.3191A>C (p.Lys1064Thr)
c.3272A>C (p.Lys1091Thr)
c.3290A>C (p.Lys1097Thr)
n.3663A>C
n.3887A>C
c.2459A>C (p.Lys820Thr)
c.2234A>C (p.Lys745Thr)
c.3329A>C (p.Lys1110Thr)
c.1302A>C
c.*625A>C (n.*625A>C)
n.4268A>C
n.2869A>C
c.3380A>C (p.Lys1127Thr)
c.3428A>C (p.Lys1143Thr)
c.3488A>C (p.Lys1163Thr)
c.3038A>C (p.Lys1013Thr)
c.1340A>C (p.Lys447Thr)
c.1157A>C (p.Lys386Thr)
c.3389A>C (p.Lys1130Thr)
c.3341A>C (p.Lys1114Thr)
c.3110A>C (p.Lys1037Thr)
c.3011A>C (p.Lys1004Thr)
c.2192A>C (p.Lys731Thr)
n.3743A>C
 dbSNP gnomAD v3 gnomAD v4
13g.51941113T=CA2091559383ATP7Bc.*1174A= (n.*1174A=)
c.*2268A= (n.*2268A=)
c.2903A= (p.Lys968=)
c.3524A= (p.Lys1175=)
c.3191A= (p.Lys1064=)
c.3272A= (p.Lys1091=)
c.3290A= (p.Lys1097=)
n.3663A=
n.3887A=
c.2459A= (p.Lys820=)
c.2234A= (p.Lys745=)
c.3329A= (p.Lys1110=)
c.1302A=
c.*625A= (n.*625A=)
n.4268A=
n.2869A=
c.3380A= (p.Lys1127=)
c.3428A= (p.Lys1143=)
c.3488A= (p.Lys1163=)
c.3038A= (p.Lys1013=)
c.1340A= (p.Lys447=)
c.1157A= (p.Lys386=)
c.3389A= (p.Lys1130=)
c.3341A= (p.Lys1114=)
c.3110A= (p.Lys1037=)
c.3011A= (p.Lys1004=)
c.2192A= (p.Lys731=)
n.3743A=
13g.51941114T>ACA388026103ATP7Bc.*1173A>T (n.*1173A>T)
c.*2267A>T (n.*2267A>T)
c.2902A>T (p.Lys968Ter)
c.3523A>T (p.Lys1175Ter)
c.3190A>T (p.Lys1064Ter)
c.3271A>T (p.Lys1091Ter)
c.3289A>T (p.Lys1097Ter)
n.3662A>T
n.3886A>T
c.2458A>T (p.Lys820Ter)
c.2233A>T (p.Lys745Ter)
c.3328A>T (p.Lys1110Ter)
c.1301A>T
c.*624A>T (n.*624A>T)
n.4267A>T
n.2868A>T
c.3379A>T (p.Lys1127Ter)
c.3427A>T (p.Lys1143Ter)
c.3487A>T (p.Lys1163Ter)
c.3037A>T (p.Lys1013Ter)
c.1339A>T (p.Lys447Ter)
c.1156A>T (p.Lys386Ter)
c.3388A>T (p.Lys1130Ter)
c.3340A>T (p.Lys1114Ter)
c.3109A>T (p.Lys1037Ter)
c.3010A>T (p.Lys1004Ter)
c.2191A>T (p.Lys731Ter)
n.3742A>T
 ClinVar dbSNP
13g.51941114T>CCA388026112ATP7Bc.*1173A>G (n.*1173A>G)
c.*2267A>G (n.*2267A>G)
c.2902A>G (p.Lys968Glu)
c.3523A>G (p.Lys1175Glu)
c.3190A>G (p.Lys1064Glu)
c.3271A>G (p.Lys1091Glu)
c.3289A>G (p.Lys1097Glu)
n.3662A>G
n.3886A>G
c.2458A>G (p.Lys820Glu)
c.2233A>G (p.Lys745Glu)
c.3328A>G (p.Lys1110Glu)
c.1301A>G
c.*624A>G (n.*624A>G)
n.4267A>G
n.2868A>G
c.3379A>G (p.Lys1127Glu)
c.3427A>G (p.Lys1143Glu)
c.3487A>G (p.Lys1163Glu)
c.3037A>G (p.Lys1013Glu)
c.1339A>G (p.Lys447Glu)
c.1156A>G (p.Lys386Glu)
c.3388A>G (p.Lys1130Glu)
c.3340A>G (p.Lys1114Glu)
c.3109A>G (p.Lys1037Glu)
c.3010A>G (p.Lys1004Glu)
c.2191A>G (p.Lys731Glu)
n.3742A>G
13g.51941114T>GCA250077167ATP7Bc.*1173A>C (n.*1173A>C)
c.*2267A>C (n.*2267A>C)
c.2902A>C (p.Lys968Gln)
c.3523A>C (p.Lys1175Gln)
c.3190A>C (p.Lys1064Gln)
c.3271A>C (p.Lys1091Gln)
c.3289A>C (p.Lys1097Gln)
n.3662A>C
n.3886A>C
c.2458A>C (p.Lys820Gln)
c.2233A>C (p.Lys745Gln)
c.3328A>C (p.Lys1110Gln)
c.1301A>C
c.*624A>C (n.*624A>C)
n.4267A>C
n.2868A>C
c.3379A>C (p.Lys1127Gln)
c.3427A>C (p.Lys1143Gln)
c.3487A>C (p.Lys1163Gln)
c.3037A>C (p.Lys1013Gln)
c.1339A>C (p.Lys447Gln)
c.1156A>C (p.Lys386Gln)
c.3388A>C (p.Lys1130Gln)
c.3340A>C (p.Lys1114Gln)
c.3109A>C (p.Lys1037Gln)
c.3010A>C (p.Lys1004Gln)
c.2191A>C (p.Lys731Gln)
n.3742A>C
 ClinVar dbSNP
13g.51941114T=CA2091559389ATP7Bc.*1173A= (n.*1173A=)
c.*2267A= (n.*2267A=)
c.2902A= (p.Lys968=)
c.3523A= (p.Lys1175=)
c.3190A= (p.Lys1064=)
c.3271A= (p.Lys1091=)
c.3289A= (p.Lys1097=)
n.3662A=
n.3886A=
c.2458A= (p.Lys820=)
c.2233A= (p.Lys745=)
c.3328A= (p.Lys1110=)
c.1301A=
c.*624A= (n.*624A=)
n.4267A=
n.2868A=
c.3379A= (p.Lys1127=)
c.3427A= (p.Lys1143=)
c.3487A= (p.Lys1163=)
c.3037A= (p.Lys1013=)
c.1339A= (p.Lys447=)
c.1156A= (p.Lys386=)
c.3388A= (p.Lys1130=)
c.3340A= (p.Lys1114=)
c.3109A= (p.Lys1037=)
c.3010A= (p.Lys1004=)
c.2191A= (p.Lys731=)
n.3742A=
13g.51941115C>ACA388026116ATP7Bc.*1172G>T (n.*1172G>T)
c.*2266G>T (n.*2266G>T)
c.2901G>T (p.Met967Ile)
c.3522G>T (p.Met1174Ile)
c.3189G>T (p.Met1063Ile)
c.3270G>T (p.Met1090Ile)
c.3288G>T (p.Met1096Ile)
n.3661G>T
n.3885G>T
c.2457G>T (p.Met819Ile)
c.2232G>T (p.Met744Ile)
c.3327G>T (p.Met1109Ile)
c.1300G>T
c.*623G>T (n.*623G>T)
n.4266G>T
n.2867G>T
c.3378G>T (p.Met1126Ile)
c.3426G>T (p.Met1142Ile)
c.3486G>T (p.Met1162Ile)
c.3036G>T (p.Met1012Ile)
c.1338G>T (p.Met446Ile)
c.1155G>T (p.Met385Ile)
c.3387G>T (p.Met1129Ile)
c.3339G>T (p.Met1113Ile)
c.3108G>T (p.Met1036Ile)
c.3009G>T (p.Met1003Ile)
c.2190G>T (p.Met730Ile)
n.3741G>T
13g.51941115C>GCA388026123ATP7Bc.*1172G>C (n.*1172G>C)
c.*2266G>C (n.*2266G>C)
c.2901G>C (p.Met967Ile)
c.3522G>C (p.Met1174Ile)
c.3189G>C (p.Met1063Ile)
c.3270G>C (p.Met1090Ile)
c.3288G>C (p.Met1096Ile)
n.3661G>C
n.3885G>C
c.2457G>C (p.Met819Ile)
c.2232G>C (p.Met744Ile)
c.3327G>C (p.Met1109Ile)
c.1300G>C
c.*623G>C (n.*623G>C)
n.4266G>C
n.2867G>C
c.3378G>C (p.Met1126Ile)
c.3426G>C (p.Met1142Ile)
c.3486G>C (p.Met1162Ile)
c.3036G>C (p.Met1012Ile)
c.1338G>C (p.Met446Ile)
c.1155G>C (p.Met385Ile)
c.3387G>C (p.Met1129Ile)
c.3339G>C (p.Met1113Ile)
c.3108G>C (p.Met1036Ile)
c.3009G>C (p.Met1003Ile)
c.2190G>C (p.Met730Ile)
n.3741G>C
13g.51941115C>TCA388026127ATP7Bc.*1172G>A (n.*1172G>A)
c.*2266G>A (n.*2266G>A)
c.2901G>A (p.Met967Ile)
c.3522G>A (p.Met1174Ile)
c.3189G>A (p.Met1063Ile)
c.3270G>A (p.Met1090Ile)
c.3288G>A (p.Met1096Ile)
n.3661G>A
n.3885G>A
c.2457G>A (p.Met819Ile)
c.2232G>A (p.Met744Ile)
c.3327G>A (p.Met1109Ile)
c.1300G>A
c.*623G>A (n.*623G>A)
n.4266G>A
n.2867G>A
c.3378G>A (p.Met1126Ile)
c.3426G>A (p.Met1142Ile)
c.3486G>A (p.Met1162Ile)
c.3036G>A (p.Met1012Ile)
c.1338G>A (p.Met446Ile)
c.1155G>A (p.Met385Ile)
c.3387G>A (p.Met1129Ile)
c.3339G>A (p.Met1113Ile)
c.3108G>A (p.Met1036Ile)
c.3009G>A (p.Met1003Ile)
c.2190G>A (p.Met730Ile)
n.3741G>A
13g.51941116A>CCA388026128ATP7Bc.*1171T>G (n.*1171T>G)
c.*2265T>G (n.*2265T>G)
c.2900T>G (p.Met967Arg)
c.3521T>G (p.Met1174Arg)
c.3188T>G (p.Met1063Arg)
c.3269T>G (p.Met1090Arg)
c.3287T>G (p.Met1096Arg)
n.3660T>G
n.3884T>G
c.2456T>G (p.Met819Arg)
c.2231T>G (p.Met744Arg)
c.3326T>G (p.Met1109Arg)
c.1299T>G
c.*622T>G (n.*622T>G)
n.4265T>G
n.2866T>G
c.3377T>G (p.Met1126Arg)
c.3425T>G (p.Met1142Arg)
c.3485T>G (p.Met1162Arg)
c.3035T>G (p.Met1012Arg)
c.1337T>G (p.Met446Arg)
c.1154T>G (p.Met385Arg)
c.3386T>G (p.Met1129Arg)
c.3338T>G (p.Met1113Arg)
c.3107T>G (p.Met1036Arg)
c.3008T>G (p.Met1003Arg)
c.2189T>G (p.Met730Arg)
n.3740T>G
13g.51941116A>GCA388026131ATP7Bc.*1171T>C (n.*1171T>C)
c.*2265T>C (n.*2265T>C)
c.2900T>C (p.Met967Thr)
c.3521T>C (p.Met1174Thr)
c.3188T>C (p.Met1063Thr)
c.3269T>C (p.Met1090Thr)
c.3287T>C (p.Met1096Thr)
n.3660T>C
n.3884T>C
c.2456T>C (p.Met819Thr)
c.2231T>C (p.Met744Thr)
c.3326T>C (p.Met1109Thr)
c.1299T>C
c.*622T>C (n.*622T>C)
n.4265T>C
n.2866T>C
c.3377T>C (p.Met1126Thr)
c.3425T>C (p.Met1142Thr)
c.3485T>C (p.Met1162Thr)
c.3035T>C (p.Met1012Thr)
c.1337T>C (p.Met446Thr)
c.1154T>C (p.Met385Thr)
c.3386T>C (p.Met1129Thr)
c.3338T>C (p.Met1113Thr)
c.3107T>C (p.Met1036Thr)
c.3008T>C (p.Met1003Thr)
c.2189T>C (p.Met730Thr)
n.3740T>C
13g.51941116A>TCA388026129ATP7Bc.*1171T>A (n.*1171T>A)
c.*2265T>A (n.*2265T>A)
c.2900T>A (p.Met967Lys)
c.3521T>A (p.Met1174Lys)
c.3188T>A (p.Met1063Lys)
c.3269T>A (p.Met1090Lys)
c.3287T>A (p.Met1096Lys)
n.3660T>A
n.3884T>A
c.2456T>A (p.Met819Lys)
c.2231T>A (p.Met744Lys)
c.3326T>A (p.Met1109Lys)
c.1299T>A
c.*622T>A (n.*622T>A)
n.4265T>A
n.2866T>A
c.3377T>A (p.Met1126Lys)
c.3425T>A (p.Met1142Lys)
c.3485T>A (p.Met1162Lys)
c.3035T>A (p.Met1012Lys)
c.1337T>A (p.Met446Lys)
c.1154T>A (p.Met385Lys)
c.3386T>A (p.Met1129Lys)
c.3338T>A (p.Met1113Lys)
c.3107T>A (p.Met1036Lys)
c.3008T>A (p.Met1003Lys)
c.2189T>A (p.Met730Lys)
n.3740T>A
 ClinVar
13g.51941117T>ACA388026133ATP7Bc.*1170A>T (n.*1170A>T)
c.*2264A>T (n.*2264A>T)
c.2899A>T (p.Met967Leu)
c.3520A>T (p.Met1174Leu)
c.3187A>T (p.Met1063Leu)
c.3268A>T (p.Met1090Leu)
c.3286A>T (p.Met1096Leu)
n.3659A>T
n.3883A>T
c.2455A>T (p.Met819Leu)
c.2230A>T (p.Met744Leu)
c.3325A>T (p.Met1109Leu)
c.1298A>T
c.*621A>T (n.*621A>T)
n.4264A>T
n.2865A>T
c.3376A>T (p.Met1126Leu)
c.3424A>T (p.Met1142Leu)
c.3484A>T (p.Met1162Leu)
c.3034A>T (p.Met1012Leu)
c.1336A>T (p.Met446Leu)
c.1153A>T (p.Met385Leu)
c.3385A>T (p.Met1129Leu)
c.3337A>T (p.Met1113Leu)
c.3106A>T (p.Met1036Leu)
c.3007A>T (p.Met1003Leu)
c.2188A>T (p.Met730Leu)
n.3739A>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
13g.51941117T>CCA6988666ATP7Bc.*1170A>G (n.*1170A>G)
c.*2264A>G (n.*2264A>G)
c.2899A>G (p.Met967Val)
c.3520A>G (p.Met1174Val)
c.3187A>G (p.Met1063Val)
c.3268A>G (p.Met1090Val)
c.3286A>G (p.Met1096Val)
n.3659A>G
n.3883A>G
c.2455A>G (p.Met819Val)
c.2230A>G (p.Met744Val)
c.3325A>G (p.Met1109Val)
c.1298A>G
c.*621A>G (n.*621A>G)
n.4264A>G
n.2865A>G
c.3376A>G (p.Met1126Val)
c.3424A>G (p.Met1142Val)
c.3484A>G (p.Met1162Val)
c.3034A>G (p.Met1012Val)
c.1336A>G (p.Met446Val)
c.1153A>G (p.Met385Val)
c.3385A>G (p.Met1129Val)
c.3337A>G (p.Met1113Val)
c.3106A>G (p.Met1036Val)
c.3007A>G (p.Met1003Val)
c.2188A>G (p.Met730Val)
n.3739A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51941117T>GCA388026139ATP7Bc.*1170A>C (n.*1170A>C)
c.*2264A>C (n.*2264A>C)
c.2899A>C (p.Met967Leu)
c.3520A>C (p.Met1174Leu)
c.3187A>C (p.Met1063Leu)
c.3268A>C (p.Met1090Leu)
c.3286A>C (p.Met1096Leu)
n.3659A>C
n.3883A>C
c.2455A>C (p.Met819Leu)
c.2230A>C (p.Met744Leu)
c.3325A>C (p.Met1109Leu)
c.1298A>C
c.*621A>C (n.*621A>C)
n.4264A>C
n.2865A>C
c.3376A>C (p.Met1126Leu)
c.3424A>C (p.Met1142Leu)
c.3484A>C (p.Met1162Leu)
c.3034A>C (p.Met1012Leu)
c.1336A>C (p.Met446Leu)
c.1153A>C (p.Met385Leu)
c.3385A>C (p.Met1129Leu)
c.3337A>C (p.Met1113Leu)
c.3106A>C (p.Met1036Leu)
c.3007A>C (p.Met1003Leu)
c.2188A>C (p.Met730Leu)
n.3739A>C
13g.51941117T=CA2091559393ATP7Bc.*1170A= (n.*1170A=)
c.*2264A= (n.*2264A=)
c.2899A= (p.Met967=)
c.3520A= (p.Met1174=)
c.3187A= (p.Met1063=)
c.3268A= (p.Met1090=)
c.3286A= (p.Met1096=)
n.3659A=
n.3883A=
c.2455A= (p.Met819=)
c.2230A= (p.Met744=)
c.3325A= (p.Met1109=)
c.1298A=
c.*621A= (n.*621A=)
n.4264A=
n.2865A=
c.3376A= (p.Met1126=)
c.3424A= (p.Met1142=)
c.3484A= (p.Met1162=)
c.3034A= (p.Met1012=)
c.1336A= (p.Met446=)
c.1153A= (p.Met385=)
c.3385A= (p.Met1129=)
c.3337A= (p.Met1113=)
c.3106A= (p.Met1036=)
c.3007A= (p.Met1003=)
c.2188A= (p.Met730=)
n.3739A=
13g.51941118C>ACA388026143ATP7Bc.*1169G>T (n.*1169G>T)
c.*2263G>T (n.*2263G>T)
c.2898G>T (p.Glu966Asp)
c.3519G>T (p.Glu1173Asp)
c.3186G>T (p.Glu1062Asp)
c.3267G>T (p.Glu1089Asp)
c.3285G>T (p.Glu1095Asp)
n.3658G>T
n.3882G>T
c.2454G>T (p.Glu818Asp)
c.2229G>T (p.Glu743Asp)
c.3324G>T (p.Glu1108Asp)
c.1297G>T
c.*620G>T (n.*620G>T)
n.4263G>T
n.2864G>T
c.3375G>T (p.Glu1125Asp)
c.3423G>T (p.Glu1141Asp)
c.3483G>T (p.Glu1161Asp)
c.3033G>T (p.Glu1011Asp)
c.1335G>T (p.Glu445Asp)
c.1152G>T (p.Glu384Asp)
c.3384G>T (p.Glu1128Asp)
c.3336G>T (p.Glu1112Asp)
c.3105G>T (p.Glu1035Asp)
c.3006G>T (p.Glu1002Asp)
c.2187G>T (p.Glu729Asp)
n.3738G>T
13g.51941118C>GCA388026144ATP7Bc.*1169G>C (n.*1169G>C)
c.*2263G>C (n.*2263G>C)
c.2898G>C (p.Glu966Asp)
c.3519G>C (p.Glu1173Asp)
c.3186G>C (p.Glu1062Asp)
c.3267G>C (p.Glu1089Asp)
c.3285G>C (p.Glu1095Asp)
n.3658G>C
n.3882G>C
c.2454G>C (p.Glu818Asp)
c.2229G>C (p.Glu743Asp)
c.3324G>C (p.Glu1108Asp)
c.1297G>C
c.*620G>C (n.*620G>C)
n.4263G>C
n.2864G>C
c.3375G>C (p.Glu1125Asp)
c.3423G>C (p.Glu1141Asp)
c.3483G>C (p.Glu1161Asp)
c.3033G>C (p.Glu1011Asp)
c.1335G>C (p.Glu445Asp)
c.1152G>C (p.Glu384Asp)
c.3384G>C (p.Glu1128Asp)
c.3336G>C (p.Glu1112Asp)
c.3105G>C (p.Glu1035Asp)
c.3006G>C (p.Glu1002Asp)
c.2187G>C (p.Glu729Asp)
n.3738G>C
13g.51941118C>TCA483893945ATP7Bc.*1169G>A (n.*1169G>A)
c.*2263G>A (n.*2263G>A)
c.2898G>A (p.Glu966=)
c.3519G>A (p.Glu1173=)
c.3186G>A (p.Glu1062=)
c.3267G>A (p.Glu1089=)
c.3285G>A (p.Glu1095=)
n.3658G>A
n.3882G>A
c.2454G>A (p.Glu818=)
c.2229G>A (p.Glu743=)
c.3324G>A (p.Glu1108=)
c.1297G>A
c.*620G>A (n.*620G>A)
n.4263G>A
n.2864G>A
c.3375G>A (p.Glu1125=)
c.3423G>A (p.Glu1141=)
c.3483G>A (p.Glu1161=)
c.3033G>A (p.Glu1011=)
c.1335G>A (p.Glu445=)
c.1152G>A (p.Glu384=)
c.3384G>A (p.Glu1128=)
c.3336G>A (p.Glu1112=)
c.3105G>A (p.Glu1035=)
c.3006G>A (p.Glu1002=)
c.2187G>A (p.Glu729=)
n.3738G>A
 gnomAD v4
13g.51941119T>ACA388026145ATP7Bc.*1168A>T (n.*1168A>T)
c.*2262A>T (n.*2262A>T)
c.2897A>T (p.Glu966Val)
c.3518A>T (p.Glu1173Val)
c.3185A>T (p.Glu1062Val)
c.3266A>T (p.Glu1089Val)
c.3284A>T (p.Glu1095Val)
n.3657A>T
n.3881A>T
c.2453A>T (p.Glu818Val)
c.2228A>T (p.Glu743Val)
c.3323A>T (p.Glu1108Val)
c.1296A>T
c.*619A>T (n.*619A>T)
n.4262A>T
n.2863A>T
c.3374A>T (p.Glu1125Val)
c.3422A>T (p.Glu1141Val)
c.3482A>T (p.Glu1161Val)
c.3032A>T (p.Glu1011Val)
c.1334A>T (p.Glu445Val)
c.1151A>T (p.Glu384Val)
c.3383A>T (p.Glu1128Val)
c.3335A>T (p.Glu1112Val)
c.3104A>T (p.Glu1035Val)
c.3005A>T (p.Glu1002Val)
c.2186A>T (p.Glu729Val)
n.3737A>T
 gnomAD v4
13g.51941119T>CCA388026146ATP7Bc.*1168A>G (n.*1168A>G)
c.*2262A>G (n.*2262A>G)
c.2897A>G (p.Glu966Gly)
c.3518A>G (p.Glu1173Gly)
c.3185A>G (p.Glu1062Gly)
c.3266A>G (p.Glu1089Gly)
c.3284A>G (p.Glu1095Gly)
n.3657A>G
n.3881A>G
c.2453A>G (p.Glu818Gly)
c.2228A>G (p.Glu743Gly)
c.3323A>G (p.Glu1108Gly)
c.1296A>G
c.*619A>G (n.*619A>G)
n.4262A>G
n.2863A>G
c.3374A>G (p.Glu1125Gly)
c.3422A>G (p.Glu1141Gly)
c.3482A>G (p.Glu1161Gly)
c.3032A>G (p.Glu1011Gly)
c.1334A>G (p.Glu445Gly)
c.1151A>G (p.Glu384Gly)
c.3383A>G (p.Glu1128Gly)
c.3335A>G (p.Glu1112Gly)
c.3104A>G (p.Glu1035Gly)
c.3005A>G (p.Glu1002Gly)
c.2186A>G (p.Glu729Gly)
n.3737A>G
 gnomAD v4
13g.51941119T>GCA388026147ATP7Bc.*1168A>C (n.*1168A>C)
c.*2262A>C (n.*2262A>C)
c.2897A>C (p.Glu966Ala)
c.3518A>C (p.Glu1173Ala)
c.3185A>C (p.Glu1062Ala)
c.3266A>C (p.Glu1089Ala)
c.3284A>C (p.Glu1095Ala)
n.3657A>C
n.3881A>C
c.2453A>C (p.Glu818Ala)
c.2228A>C (p.Glu743Ala)
c.3323A>C (p.Glu1108Ala)
c.1296A>C
c.*619A>C (n.*619A>C)
n.4262A>C
n.2863A>C
c.3374A>C (p.Glu1125Ala)
c.3422A>C (p.Glu1141Ala)
c.3482A>C (p.Glu1161Ala)
c.3032A>C (p.Glu1011Ala)
c.1334A>C (p.Glu445Ala)
c.1151A>C (p.Glu384Ala)
c.3383A>C (p.Glu1128Ala)
c.3335A>C (p.Glu1112Ala)
c.3104A>C (p.Glu1035Ala)
c.3005A>C (p.Glu1002Ala)
c.2186A>C (p.Glu729Ala)
n.3737A>C
13g.51941120C>ACA388026150ATP7Bc.*1167G>T (n.*1167G>T)
c.*2261G>T (n.*2261G>T)
c.2896G>T (p.Glu966Ter)
c.3517G>T (p.Glu1173Ter)
c.3184G>T (p.Glu1062Ter)
c.3265G>T (p.Glu1089Ter)
c.3283G>T (p.Glu1095Ter)
n.3656G>T
n.3880G>T
c.2452G>T (p.Glu818Ter)
c.2227G>T (p.Glu743Ter)
c.3322G>T (p.Glu1108Ter)
c.1295G>T
c.*618G>T (n.*618G>T)
n.4261G>T
n.2862G>T
c.3373G>T (p.Glu1125Ter)
c.3421G>T (p.Glu1141Ter)
c.3481G>T (p.Glu1161Ter)
c.3031G>T (p.Glu1011Ter)
c.1333G>T (p.Glu445Ter)
c.1150G>T (p.Glu384Ter)
c.3382G>T (p.Glu1128Ter)
c.3334G>T (p.Glu1112Ter)
c.3103G>T (p.Glu1035Ter)
c.3004G>T (p.Glu1002Ter)
c.2185G>T (p.Glu729Ter)
n.3736G>T
13g.51941120C=CA2091559398ATP7Bc.*1167G= (n.*1167G=)
c.*2261G= (n.*2261G=)
c.2896G= (p.Glu966=)
c.3517G= (p.Glu1173=)
c.3184G= (p.Glu1062=)
c.3265G= (p.Glu1089=)
c.3283G= (p.Glu1095=)
n.3656G=
n.3880G=
c.2452G= (p.Glu818=)
c.2227G= (p.Glu743=)
c.3322G= (p.Glu1108=)
c.1295G=
c.*618G= (n.*618G=)
n.4261G=
n.2862G=
c.3373G= (p.Glu1125=)
c.3421G= (p.Glu1141=)
c.3481G= (p.Glu1161=)
c.3031G= (p.Glu1011=)
c.1333G= (p.Glu445=)
c.1150G= (p.Glu384=)
c.3382G= (p.Glu1128=)
c.3334G= (p.Glu1112=)
c.3103G= (p.Glu1035=)
c.3004G= (p.Glu1002=)
c.2185G= (p.Glu729=)
n.3736G=
13g.51941120C>GCA388026153ATP7Bc.*1167G>C (n.*1167G>C)
c.*2261G>C (n.*2261G>C)
c.2896G>C (p.Glu966Gln)
c.3517G>C (p.Glu1173Gln)
c.3184G>C (p.Glu1062Gln)
c.3265G>C (p.Glu1089Gln)
c.3283G>C (p.Glu1095Gln)
n.3656G>C
n.3880G>C
c.2452G>C (p.Glu818Gln)
c.2227G>C (p.Glu743Gln)
c.3322G>C (p.Glu1108Gln)
c.1295G>C
c.*618G>C (n.*618G>C)
n.4261G>C
n.2862G>C
c.3373G>C (p.Glu1125Gln)
c.3421G>C (p.Glu1141Gln)
c.3481G>C (p.Glu1161Gln)
c.3031G>C (p.Glu1011Gln)
c.1333G>C (p.Glu445Gln)
c.1150G>C (p.Glu384Gln)
c.3382G>C (p.Glu1128Gln)
c.3334G>C (p.Glu1112Gln)
c.3103G>C (p.Glu1035Gln)
c.3004G>C (p.Glu1002Gln)
c.2185G>C (p.Glu729Gln)
n.3736G>C
13g.51941120C>TCA274321ATP7Bc.*1167G>A (n.*1167G>A)
c.*2261G>A (n.*2261G>A)
c.2896G>A (p.Glu966Lys)
c.3517G>A (p.Glu1173Lys)
c.3184G>A (p.Glu1062Lys)
c.3265G>A (p.Glu1089Lys)
c.3283G>A (p.Glu1095Lys)
n.3656G>A
n.3880G>A
c.2452G>A (p.Glu818Lys)
c.2227G>A (p.Glu743Lys)
c.3322G>A (p.Glu1108Lys)
c.1295G>A
c.*618G>A (n.*618G>A)
n.4261G>A
n.2862G>A
c.3373G>A (p.Glu1125Lys)
c.3421G>A (p.Glu1141Lys)
c.3481G>A (p.Glu1161Lys)
c.3031G>A (p.Glu1011Lys)
c.1333G>A (p.Glu445Lys)
c.1150G>A (p.Glu384Lys)
c.3382G>A (p.Glu1128Lys)
c.3334G>A (p.Glu1112Lys)
c.3103G>A (p.Glu1035Lys)
c.3004G>A (p.Glu1002Lys)
c.2185G>A (p.Glu729Lys)
n.3736G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51941121G>ACA6988667ATP7Bc.*1166C>T (n.*1166C>T)
c.*2260C>T (n.*2260C>T)
c.2895C>T (p.His965=)
c.3516C>T (p.His1172=)
c.3183C>T (p.His1061=)
c.3264C>T (p.His1088=)
c.3282C>T (p.His1094=)
n.3655C>T
n.3879C>T
c.2451C>T (p.His817=)
c.2226C>T (p.His742=)
c.3321C>T (p.His1107=)
c.1294C>T
c.*617C>T (n.*617C>T)
n.4260C>T
n.2861C>T
c.3372C>T (p.His1124=)
c.3420C>T (p.His1140=)
c.3480C>T (p.His1160=)
c.3030C>T (p.His1010=)
c.1332C>T (p.His444=)
c.1149C>T (p.His383=)
c.3381C>T (p.His1127=)
c.3333C>T (p.His1111=)
c.3102C>T (p.His1034=)
c.3003C>T (p.His1001=)
c.2184C>T (p.His728=)
n.3735C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941121G>CCA388026177ATP7Bc.*1166C>G (n.*1166C>G)
c.*2260C>G (n.*2260C>G)
c.2895C>G (p.His965Gln)
c.3516C>G (p.His1172Gln)
c.3183C>G (p.His1061Gln)
c.3264C>G (p.His1088Gln)
c.3282C>G (p.His1094Gln)
n.3655C>G
n.3879C>G
c.2451C>G (p.His817Gln)
c.2226C>G (p.His742Gln)
c.3321C>G (p.His1107Gln)
c.1294C>G
c.*617C>G (n.*617C>G)
n.4260C>G
n.2861C>G
c.3372C>G (p.His1124Gln)
c.3420C>G (p.His1140Gln)
c.3480C>G (p.His1160Gln)
c.3030C>G (p.His1010Gln)
c.1332C>G (p.His444Gln)
c.1149C>G (p.His383Gln)
c.3381C>G (p.His1127Gln)
c.3333C>G (p.His1111Gln)
c.3102C>G (p.His1034Gln)
c.3003C>G (p.His1001Gln)
c.2184C>G (p.His728Gln)
n.3735C>G
13g.51941121G=CA2091559403ATP7Bc.*1166C= (n.*1166C=)
c.*2260C= (n.*2260C=)
c.2895C= (p.His965=)
c.3516C= (p.His1172=)
c.3183C= (p.His1061=)
c.3264C= (p.His1088=)
c.3282C= (p.His1094=)
n.3655C=
n.3879C=
c.2451C= (p.His817=)
c.2226C= (p.His742=)
c.3321C= (p.His1107=)
c.1294C=
c.*617C= (n.*617C=)
n.4260C=
n.2861C=
c.3372C= (p.His1124=)
c.3420C= (p.His1140=)
c.3480C= (p.His1160=)
c.3030C= (p.His1010=)
c.1332C= (p.His444=)
c.1149C= (p.His383=)
c.3381C= (p.His1127=)
c.3333C= (p.His1111=)
c.3102C= (p.His1034=)
c.3003C= (p.His1001=)
c.2184C= (p.His728=)
n.3735C=
13g.51941121G>TCA388026173ATP7Bc.*1166C>A (n.*1166C>A)
c.*2260C>A (n.*2260C>A)
c.2895C>A (p.His965Gln)
c.3516C>A (p.His1172Gln)
c.3183C>A (p.His1061Gln)
c.3264C>A (p.His1088Gln)
c.3282C>A (p.His1094Gln)
n.3655C>A
n.3879C>A
c.2451C>A (p.His817Gln)
c.2226C>A (p.His742Gln)
c.3321C>A (p.His1107Gln)
c.1294C>A
c.*617C>A (n.*617C>A)
n.4260C>A
n.2861C>A
c.3372C>A (p.His1124Gln)
c.3420C>A (p.His1140Gln)
c.3480C>A (p.His1160Gln)
c.3030C>A (p.His1010Gln)
c.1332C>A (p.His444Gln)
c.1149C>A (p.His383Gln)
c.3381C>A (p.His1127Gln)
c.3333C>A (p.His1111Gln)
c.3102C>A (p.His1034Gln)
c.3003C>A (p.His1001Gln)
c.2184C>A (p.His728Gln)
n.3735C>A
13g.51941122T>ACA388026180ATP7Bc.*1165A>T (n.*1165A>T)
c.*2259A>T (n.*2259A>T)
c.2894A>T (p.His965Leu)
c.3515A>T (p.His1172Leu)
c.3182A>T (p.His1061Leu)
c.3263A>T (p.His1088Leu)
c.3281A>T (p.His1094Leu)
n.3654A>T
n.3878A>T
c.2450A>T (p.His817Leu)
c.2225A>T (p.His742Leu)
c.3320A>T (p.His1107Leu)
c.1293A>T
c.*616A>T (n.*616A>T)
n.4259A>T
n.2860A>T
c.3371A>T (p.His1124Leu)
c.3419A>T (p.His1140Leu)
c.3479A>T (p.His1160Leu)
c.3029A>T (p.His1010Leu)
c.1331A>T (p.His444Leu)
c.1148A>T (p.His383Leu)
c.3380A>T (p.His1127Leu)
c.3332A>T (p.His1111Leu)
c.3101A>T (p.His1034Leu)
c.3002A>T (p.His1001Leu)
c.2183A>T (p.His728Leu)
n.3734A>T
13g.51941122T>CCA388026185ATP7Bc.*1165A>G (n.*1165A>G)
c.*2259A>G (n.*2259A>G)
c.2894A>G (p.His965Arg)
c.3515A>G (p.His1172Arg)
c.3182A>G (p.His1061Arg)
c.3263A>G (p.His1088Arg)
c.3281A>G (p.His1094Arg)
n.3654A>G
n.3878A>G
c.2450A>G (p.His817Arg)
c.2225A>G (p.His742Arg)
c.3320A>G (p.His1107Arg)
c.1293A>G
c.*616A>G (n.*616A>G)
n.4259A>G
n.2860A>G
c.3371A>G (p.His1124Arg)
c.3419A>G (p.His1140Arg)
c.3479A>G (p.His1160Arg)
c.3029A>G (p.His1010Arg)
c.1331A>G (p.His444Arg)
c.1148A>G (p.His383Arg)
c.3380A>G (p.His1127Arg)
c.3332A>G (p.His1111Arg)
c.3101A>G (p.His1034Arg)
c.3002A>G (p.His1001Arg)
c.2183A>G (p.His728Arg)
n.3734A>G
13g.51941122T>GCA388026183ATP7Bc.*1165A>C (n.*1165A>C)
c.*2259A>C (n.*2259A>C)
c.2894A>C (p.His965Pro)
c.3515A>C (p.His1172Pro)
c.3182A>C (p.His1061Pro)
c.3263A>C (p.His1088Pro)
c.3281A>C (p.His1094Pro)
n.3654A>C
n.3878A>C
c.2450A>C (p.His817Pro)
c.2225A>C (p.His742Pro)
c.3320A>C (p.His1107Pro)
c.1293A>C
c.*616A>C (n.*616A>C)
n.4259A>C
n.2860A>C
c.3371A>C (p.His1124Pro)
c.3419A>C (p.His1140Pro)
c.3479A>C (p.His1160Pro)
c.3029A>C (p.His1010Pro)
c.1331A>C (p.His444Pro)
c.1148A>C (p.His383Pro)
c.3380A>C (p.His1127Pro)
c.3332A>C (p.His1111Pro)
c.3101A>C (p.His1034Pro)
c.3002A>C (p.His1001Pro)
c.2183A>C (p.His728Pro)
n.3734A>C
13g.51941123G>ACA388026190ATP7Bc.*1164C>T (n.*1164C>T)
c.*2258C>T (n.*2258C>T)
c.2893C>T (p.His965Tyr)
c.3514C>T (p.His1172Tyr)
c.3181C>T (p.His1061Tyr)
c.3262C>T (p.His1088Tyr)
c.3280C>T (p.His1094Tyr)
n.3653C>T
n.3877C>T
c.2449C>T (p.His817Tyr)
c.2224C>T (p.His742Tyr)
c.3319C>T (p.His1107Tyr)
c.1292C>T
c.*615C>T (n.*615C>T)
n.4258C>T
n.2859C>T
c.3370C>T (p.His1124Tyr)
c.3418C>T (p.His1140Tyr)
c.3478C>T (p.His1160Tyr)
c.3028C>T (p.His1010Tyr)
c.1330C>T (p.His444Tyr)
c.1147C>T (p.His383Tyr)
c.3379C>T (p.His1127Tyr)
c.3331C>T (p.His1111Tyr)
c.3100C>T (p.His1034Tyr)
c.3001C>T (p.His1001Tyr)
c.2182C>T (p.His728Tyr)
n.3733C>T
13g.51941123G>CCA388026197ATP7Bc.*1164C>G (n.*1164C>G)
c.*2258C>G (n.*2258C>G)
c.2893C>G (p.His965Asp)
c.3514C>G (p.His1172Asp)
c.3181C>G (p.His1061Asp)
c.3262C>G (p.His1088Asp)
c.3280C>G (p.His1094Asp)
n.3653C>G
n.3877C>G
c.2449C>G (p.His817Asp)
c.2224C>G (p.His742Asp)
c.3319C>G (p.His1107Asp)
c.1292C>G
c.*615C>G (n.*615C>G)
n.4258C>G
n.2859C>G
c.3370C>G (p.His1124Asp)
c.3418C>G (p.His1140Asp)
c.3478C>G (p.His1160Asp)
c.3028C>G (p.His1010Asp)
c.1330C>G (p.His444Asp)
c.1147C>G (p.His383Asp)
c.3379C>G (p.His1127Asp)
c.3331C>G (p.His1111Asp)
c.3100C>G (p.His1034Asp)
c.3001C>G (p.His1001Asp)
c.2182C>G (p.His728Asp)
n.3733C>G
13g.51941123G>TCA388026194ATP7Bc.*1164C>A (n.*1164C>A)
c.*2258C>A (n.*2258C>A)
c.2893C>A (p.His965Asn)
c.3514C>A (p.His1172Asn)
c.3181C>A (p.His1061Asn)
c.3262C>A (p.His1088Asn)
c.3280C>A (p.His1094Asn)
n.3653C>A
n.3877C>A
c.2449C>A (p.His817Asn)
c.2224C>A (p.His742Asn)
c.3319C>A (p.His1107Asn)
c.1292C>A
c.*615C>A (n.*615C>A)
n.4258C>A
n.2859C>A
c.3370C>A (p.His1124Asn)
c.3418C>A (p.His1140Asn)
c.3478C>A (p.His1160Asn)
c.3028C>A (p.His1010Asn)
c.1330C>A (p.His444Asn)
c.1147C>A (p.His383Asn)
c.3379C>A (p.His1127Asn)
c.3331C>A (p.His1111Asn)
c.3100C>A (p.His1034Asn)
c.3001C>A (p.His1001Asn)
c.2182C>A (p.His728Asn)
n.3733C>A
13g.51941124G>ACA483893946ATP7Bc.*1163C>T (n.*1163C>T)
c.*2257C>T (n.*2257C>T)
c.2892C>T (p.Asp964=)
c.3513C>T (p.Asp1171=)
c.3180C>T (p.Asp1060=)
c.3261C>T (p.Asp1087=)
c.3279C>T (p.Asp1093=)
n.3652C>T
n.3876C>T
c.2448C>T (p.Asp816=)
c.2223C>T (p.Asp741=)
c.3318C>T (p.Asp1106=)
c.1291C>T
c.*614C>T (n.*614C>T)
n.4257C>T
n.2858C>T
c.3369C>T (p.Asp1123=)
c.3417C>T (p.Asp1139=)
c.3477C>T (p.Asp1159=)
c.3027C>T (p.Asp1009=)
c.1329C>T (p.Asp443=)
c.1146C>T (p.Asp382=)
c.3378C>T (p.Asp1126=)
c.3330C>T (p.Asp1110=)
c.3099C>T (p.Asp1033=)
c.3000C>T (p.Asp1000=)
c.2181C>T (p.Asp727=)
n.3732C>T
13g.51941124G>CCA388026201ATP7Bc.*1163C>G (n.*1163C>G)
c.*2257C>G (n.*2257C>G)
c.2892C>G (p.Asp964Glu)
c.3513C>G (p.Asp1171Glu)
c.3180C>G (p.Asp1060Glu)
c.3261C>G (p.Asp1087Glu)
c.3279C>G (p.Asp1093Glu)
n.3652C>G
n.3876C>G
c.2448C>G (p.Asp816Glu)
c.2223C>G (p.Asp741Glu)
c.3318C>G (p.Asp1106Glu)
c.1291C>G
c.*614C>G (n.*614C>G)
n.4257C>G
n.2858C>G
c.3369C>G (p.Asp1123Glu)
c.3417C>G (p.Asp1139Glu)
c.3477C>G (p.Asp1159Glu)
c.3027C>G (p.Asp1009Glu)
c.1329C>G (p.Asp443Glu)
c.1146C>G (p.Asp382Glu)
c.3378C>G (p.Asp1126Glu)
c.3330C>G (p.Asp1110Glu)
c.3099C>G (p.Asp1033Glu)
c.3000C>G (p.Asp1000Glu)
c.2181C>G (p.Asp727Glu)
n.3732C>G
13g.51941124G>TCA388026205ATP7Bc.*1163C>A (n.*1163C>A)
c.*2257C>A (n.*2257C>A)
c.2892C>A (p.Asp964Glu)
c.3513C>A (p.Asp1171Glu)
c.3180C>A (p.Asp1060Glu)
c.3261C>A (p.Asp1087Glu)
c.3279C>A (p.Asp1093Glu)
n.3652C>A
n.3876C>A
c.2448C>A (p.Asp816Glu)
c.2223C>A (p.Asp741Glu)
c.3318C>A (p.Asp1106Glu)
c.1291C>A
c.*614C>A (n.*614C>A)
n.4257C>A
n.2858C>A
c.3369C>A (p.Asp1123Glu)
c.3417C>A (p.Asp1139Glu)
c.3477C>A (p.Asp1159Glu)
c.3027C>A (p.Asp1009Glu)
c.1329C>A (p.Asp443Glu)
c.1146C>A (p.Asp382Glu)
c.3378C>A (p.Asp1126Glu)
c.3330C>A (p.Asp1110Glu)
c.3099C>A (p.Asp1033Glu)
c.3000C>A (p.Asp1000Glu)
c.2181C>A (p.Asp727Glu)
n.3732C>A
13g.51941125T>ACA388026213ATP7Bc.*1162A>T (n.*1162A>T)
c.*2256A>T (n.*2256A>T)
c.2891A>T (p.Asp964Val)
c.3512A>T (p.Asp1171Val)
c.3179A>T (p.Asp1060Val)
c.3260A>T (p.Asp1087Val)
c.3278A>T (p.Asp1093Val)
n.3651A>T
n.3875A>T
c.2447A>T (p.Asp816Val)
c.2222A>T (p.Asp741Val)
c.3317A>T (p.Asp1106Val)
c.1290A>T
c.*613A>T (n.*613A>T)
n.4256A>T
n.2857A>T
c.3368A>T (p.Asp1123Val)
c.3416A>T (p.Asp1139Val)
c.3476A>T (p.Asp1159Val)
c.3026A>T (p.Asp1009Val)
c.1328A>T (p.Asp443Val)
c.1145A>T (p.Asp382Val)
c.3377A>T (p.Asp1126Val)
c.3329A>T (p.Asp1110Val)
c.3098A>T (p.Asp1033Val)
c.2999A>T (p.Asp1000Val)
c.2180A>T (p.Asp727Val)
n.3731A>T
13g.51941125T>CCA388026215ATP7Bc.*1162A>G (n.*1162A>G)
c.*2256A>G (n.*2256A>G)
c.2891A>G (p.Asp964Gly)
c.3512A>G (p.Asp1171Gly)
c.3179A>G (p.Asp1060Gly)
c.3260A>G (p.Asp1087Gly)
c.3278A>G (p.Asp1093Gly)
n.3651A>G
n.3875A>G
c.2447A>G (p.Asp816Gly)
c.2222A>G (p.Asp741Gly)
c.3317A>G (p.Asp1106Gly)
c.1290A>G
c.*613A>G (n.*613A>G)
n.4256A>G
n.2857A>G
c.3368A>G (p.Asp1123Gly)
c.3416A>G (p.Asp1139Gly)
c.3476A>G (p.Asp1159Gly)
c.3026A>G (p.Asp1009Gly)
c.1328A>G (p.Asp443Gly)
c.1145A>G (p.Asp382Gly)
c.3377A>G (p.Asp1126Gly)
c.3329A>G (p.Asp1110Gly)
c.3098A>G (p.Asp1033Gly)
c.2999A>G (p.Asp1000Gly)
c.2180A>G (p.Asp727Gly)
n.3731A>G
13g.51941125T>GCA388026218ATP7Bc.*1162A>C (n.*1162A>C)
c.*2256A>C (n.*2256A>C)
c.2891A>C (p.Asp964Ala)
c.3512A>C (p.Asp1171Ala)
c.3179A>C (p.Asp1060Ala)
c.3260A>C (p.Asp1087Ala)
c.3278A>C (p.Asp1093Ala)
n.3651A>C
n.3875A>C
c.2447A>C (p.Asp816Ala)
c.2222A>C (p.Asp741Ala)
c.3317A>C (p.Asp1106Ala)
c.1290A>C
c.*613A>C (n.*613A>C)
n.4256A>C
n.2857A>C
c.3368A>C (p.Asp1123Ala)
c.3416A>C (p.Asp1139Ala)
c.3476A>C (p.Asp1159Ala)
c.3026A>C (p.Asp1009Ala)
c.1328A>C (p.Asp443Ala)
c.1145A>C (p.Asp382Ala)
c.3377A>C (p.Asp1126Ala)
c.3329A>C (p.Asp1110Ala)
c.3098A>C (p.Asp1033Ala)
c.2999A>C (p.Asp1000Ala)
c.2180A>C (p.Asp727Ala)
n.3731A>C
13g.51941126C>ACA388026221ATP7Bc.*1161G>T (n.*1161G>T)
c.*2255G>T (n.*2255G>T)
c.2890G>T (p.Asp964Tyr)
c.3511G>T (p.Asp1171Tyr)
c.3178G>T (p.Asp1060Tyr)
c.3259G>T (p.Asp1087Tyr)
c.3277G>T (p.Asp1093Tyr)
n.3650G>T
n.3874G>T
c.2446G>T (p.Asp816Tyr)
c.2221G>T (p.Asp741Tyr)
c.3316G>T (p.Asp1106Tyr)
c.1289G>T
c.*612G>T (n.*612G>T)
n.4255G>T
n.2856G>T
c.3367G>T (p.Asp1123Tyr)
c.3415G>T (p.Asp1139Tyr)
c.3475G>T (p.Asp1159Tyr)
c.3025G>T (p.Asp1009Tyr)
c.1327G>T (p.Asp443Tyr)
c.1144G>T (p.Asp382Tyr)
c.3376G>T (p.Asp1126Tyr)
c.3328G>T (p.Asp1110Tyr)
c.3097G>T (p.Asp1033Tyr)
c.2998G>T (p.Asp1000Tyr)
c.2179G>T (p.Asp727Tyr)
n.3730G>T
13g.51941126C>GCA388026234ATP7Bc.*1161G>C (n.*1161G>C)
c.*2255G>C (n.*2255G>C)
c.2890G>C (p.Asp964His)
c.3511G>C (p.Asp1171His)
c.3178G>C (p.Asp1060His)
c.3259G>C (p.Asp1087His)
c.3277G>C (p.Asp1093His)
n.3650G>C
n.3874G>C
c.2446G>C (p.Asp816His)
c.2221G>C (p.Asp741His)
c.3316G>C (p.Asp1106His)
c.1289G>C
c.*612G>C (n.*612G>C)
n.4255G>C
n.2856G>C
c.3367G>C (p.Asp1123His)
c.3415G>C (p.Asp1139His)
c.3475G>C (p.Asp1159His)
c.3025G>C (p.Asp1009His)
c.1327G>C (p.Asp443His)
c.1144G>C (p.Asp382His)
c.3376G>C (p.Asp1126His)
c.3328G>C (p.Asp1110His)
c.3097G>C (p.Asp1033His)
c.2998G>C (p.Asp1000His)
c.2179G>C (p.Asp727His)
n.3730G>C
 gnomAD v4
13g.51941126C>TCA388026238ATP7Bc.*1161G>A (n.*1161G>A)
c.*2255G>A (n.*2255G>A)
c.2890G>A (p.Asp964Asn)
c.3511G>A (p.Asp1171Asn)
c.3178G>A (p.Asp1060Asn)
c.3259G>A (p.Asp1087Asn)
c.3277G>A (p.Asp1093Asn)
n.3650G>A
n.3874G>A
c.2446G>A (p.Asp816Asn)
c.2221G>A (p.Asp741Asn)
c.3316G>A (p.Asp1106Asn)
c.1289G>A
c.*612G>A (n.*612G>A)
n.4255G>A
n.2856G>A
c.3367G>A (p.Asp1123Asn)
c.3415G>A (p.Asp1139Asn)
c.3475G>A (p.Asp1159Asn)
c.3025G>A (p.Asp1009Asn)
c.1327G>A (p.Asp443Asn)
c.1144G>A (p.Asp382Asn)
c.3376G>A (p.Asp1126Asn)
c.3328G>A (p.Asp1110Asn)
c.3097G>A (p.Asp1033Asn)
c.2998G>A (p.Asp1000Asn)
c.2179G>A (p.Asp727Asn)
n.3730G>A
 gnomAD v4
13g.51941127T>ACA483893947ATP7Bc.*1160A>T (n.*1160A>T)
c.*2254A>T (n.*2254A>T)
c.2889A>T (p.Thr963=)
c.3510A>T (p.Thr1170=)
c.3177A>T (p.Thr1059=)
c.3258A>T (p.Thr1086=)
c.3276A>T (p.Thr1092=)
n.3649A>T
n.3873A>T
c.2445A>T (p.Thr815=)
c.2220A>T (p.Thr740=)
c.3315A>T (p.Thr1105=)
c.1288A>T
c.*611A>T (n.*611A>T)
n.4254A>T
n.2855A>T
c.3366A>T (p.Thr1122=)
c.3414A>T (p.Thr1138=)
c.3474A>T (p.Thr1158=)
c.3024A>T (p.Thr1008=)
c.1326A>T (p.Thr442=)
c.1143A>T (p.Thr381=)
c.3375A>T (p.Thr1125=)
c.3327A>T (p.Thr1109=)
c.3096A>T (p.Thr1032=)
c.2997A>T (p.Thr999=)
c.2178A>T (p.Thr726=)
n.3729A>T
13g.51941127T>CCA6988668ATP7Bc.*1160A>G (n.*1160A>G)
c.*2254A>G (n.*2254A>G)
c.2889A>G (p.Thr963=)
c.3510A>G (p.Thr1170=)
c.3177A>G (p.Thr1059=)
c.3258A>G (p.Thr1086=)
c.3276A>G (p.Thr1092=)
n.3649A>G
n.3873A>G
c.2445A>G (p.Thr815=)
c.2220A>G (p.Thr740=)
c.3315A>G (p.Thr1105=)
c.1288A>G
c.*611A>G (n.*611A>G)
n.4254A>G
n.2855A>G
c.3366A>G (p.Thr1122=)
c.3414A>G (p.Thr1138=)
c.3474A>G (p.Thr1158=)
c.3024A>G (p.Thr1008=)
c.1326A>G (p.Thr442=)
c.1143A>G (p.Thr381=)
c.3375A>G (p.Thr1125=)
c.3327A>G (p.Thr1109=)
c.3096A>G (p.Thr1032=)
c.2997A>G (p.Thr999=)
c.2178A>G (p.Thr726=)
n.3729A>G
 dbSNP ExAC gnomAD v2
13g.51941127T>GCA483893948ATP7Bc.*1160A>C (n.*1160A>C)
c.*2254A>C (n.*2254A>C)
c.2889A>C (p.Thr963=)
c.3510A>C (p.Thr1170=)
c.3177A>C (p.Thr1059=)
c.3258A>C (p.Thr1086=)
c.3276A>C (p.Thr1092=)
n.3649A>C
n.3873A>C
c.2445A>C (p.Thr815=)
c.2220A>C (p.Thr740=)
c.3315A>C (p.Thr1105=)
c.1288A>C
c.*611A>C (n.*611A>C)
n.4254A>C
n.2855A>C
c.3366A>C (p.Thr1122=)
c.3414A>C (p.Thr1138=)
c.3474A>C (p.Thr1158=)
c.3024A>C (p.Thr1008=)
c.1326A>C (p.Thr442=)
c.1143A>C (p.Thr381=)
c.3375A>C (p.Thr1125=)
c.3327A>C (p.Thr1109=)
c.3096A>C (p.Thr1032=)
c.2997A>C (p.Thr999=)
c.2178A>C (p.Thr726=)
n.3729A>C
13g.51941127T=CA2091559407ATP7Bc.*1160A= (n.*1160A=)
c.*2254A= (n.*2254A=)
c.2889A= (p.Thr963=)
c.3510A= (p.Thr1170=)
c.3177A= (p.Thr1059=)
c.3258A= (p.Thr1086=)
c.3276A= (p.Thr1092=)
n.3649A=
n.3873A=
c.2445A= (p.Thr815=)
c.2220A= (p.Thr740=)
c.3315A= (p.Thr1105=)
c.1288A=
c.*611A= (n.*611A=)
n.4254A=
n.2855A=
c.3366A= (p.Thr1122=)
c.3414A= (p.Thr1138=)
c.3474A= (p.Thr1158=)
c.3024A= (p.Thr1008=)
c.1326A= (p.Thr442=)
c.1143A= (p.Thr381=)
c.3375A= (p.Thr1125=)
c.3327A= (p.Thr1109=)
c.3096A= (p.Thr1032=)
c.2997A= (p.Thr999=)
c.2178A= (p.Thr726=)
n.3729A=
13g.51941127_51941128delinsTGCA2091559408ATP7Bc.*1159_*1160delinsCA (n.*1159_*1160delinsCA)
c.*2253_*2254delinsCA (n.*2253_*2254delinsCA)
c.2888_2889delinsCA (p.Thr963=)
c.3509_3510delinsCA (p.Thr1170=)
c.3176_3177delinsCA (p.Thr1059=)
c.3257_3258delinsCA (p.Thr1086=)
c.3275_3276delinsCA (p.Thr1092=)
n.3648_3649delinsCA
n.3872_3873delinsCA
c.2444_2445delinsCA (p.Thr815=)
c.2219_2220delinsCA (p.Thr740=)
c.3314_3315delinsCA (p.Thr1105=)
c.1287_1288delinsCA
c.*610_*611delinsCA (n.*610_*611delinsCA)
n.4253_4254delinsCA
n.2854_2855delinsCA
c.3365_3366delinsCA (p.Thr1122=)
c.3413_3414delinsCA (p.Thr1138=)
c.3473_3474delinsCA (p.Thr1158=)
c.3023_3024delinsCA (p.Thr1008=)
c.1325_1326delinsCA (p.Thr442=)
c.1142_1143delinsCA (p.Thr381=)
c.3374_3375delinsCA (p.Thr1125=)
c.3326_3327delinsCA (p.Thr1109=)
c.3095_3096delinsCA (p.Thr1032=)
c.2996_2997delinsCA (p.Thr999=)
c.2177_2178delinsCA (p.Thr726=)
n.3728_3729delinsCA
13g.51941128delCA6988669ATP7Bc.*1159del (n.*1159del)
c.*2253del (n.*2253del)
c.2888del (p.Thr963LysfsTer5)
c.3509del (p.Thr1170LysfsTer5)
c.3176del (p.Thr1059LysfsTer5)
c.3257del (p.Thr1086LysfsTer5)
c.3275del (p.Thr1092LysfsTer5)
n.3648del
n.3872del
c.2444del (p.Thr815LysfsTer5)
c.2219del (p.Thr740LysfsTer5)
c.3314del (p.Thr1105LysfsTer5)
c.1287del
c.*610del (n.*610del)
n.4253del
n.2854del
c.3365del (p.Thr1122LysfsTer5)
c.3413del (p.Thr1138LysfsTer5)
c.3473del (p.Thr1158LysfsTer5)
c.3023del (p.Thr1008LysfsTer5)
c.1325del (p.Thr442LysfsTer5)
c.1142del (p.Thr381LysfsTer5)
c.3374del (p.Thr1125LysfsTer5)
c.3326del (p.Thr1109LysfsTer5)
c.3095del (p.Thr1032LysfsTer5)
c.2996del (p.Thr999LysfsTer5)
c.2177del (p.Thr726LysfsTer5)
n.3728del
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51941128G>ACA388026242ATP7Bc.*1159C>T (n.*1159C>T)
c.*2253C>T (n.*2253C>T)
c.2888C>T (p.Thr963Ile)
c.3509C>T (p.Thr1170Ile)
c.3176C>T (p.Thr1059Ile)
c.3257C>T (p.Thr1086Ile)
c.3275C>T (p.Thr1092Ile)
n.3648C>T
n.3872C>T
c.2444C>T (p.Thr815Ile)
c.2219C>T (p.Thr740Ile)
c.3314C>T (p.Thr1105Ile)
c.1287C>T
c.*610C>T (n.*610C>T)
n.4253C>T
n.2854C>T
c.3365C>T (p.Thr1122Ile)
c.3413C>T (p.Thr1138Ile)
c.3473C>T (p.Thr1158Ile)
c.3023C>T (p.Thr1008Ile)
c.1325C>T (p.Thr442Ile)
c.1142C>T (p.Thr381Ile)
c.3374C>T (p.Thr1125Ile)
c.3326C>T (p.Thr1109Ile)
c.3095C>T (p.Thr1032Ile)
c.2996C>T (p.Thr999Ile)
c.2177C>T (p.Thr726Ile)
n.3728C>T
13g.51941128G>CCA388026244ATP7Bc.*1159C>G (n.*1159C>G)
c.*2253C>G (n.*2253C>G)
c.2888C>G (p.Thr963Arg)
c.3509C>G (p.Thr1170Arg)
c.3176C>G (p.Thr1059Arg)
c.3257C>G (p.Thr1086Arg)
c.3275C>G (p.Thr1092Arg)
n.3648C>G
n.3872C>G
c.2444C>G (p.Thr815Arg)
c.2219C>G (p.Thr740Arg)
c.3314C>G (p.Thr1105Arg)
c.1287C>G
c.*610C>G (n.*610C>G)
n.4253C>G
n.2854C>G
c.3365C>G (p.Thr1122Arg)
c.3413C>G (p.Thr1138Arg)
c.3473C>G (p.Thr1158Arg)
c.3023C>G (p.Thr1008Arg)
c.1325C>G (p.Thr442Arg)
c.1142C>G (p.Thr381Arg)
c.3374C>G (p.Thr1125Arg)
c.3326C>G (p.Thr1109Arg)
c.3095C>G (p.Thr1032Arg)
c.2996C>G (p.Thr999Arg)
c.2177C>G (p.Thr726Arg)
n.3728C>G
13g.51941128G>TCA388026247ATP7Bc.*1159C>A (n.*1159C>A)
c.*2253C>A (n.*2253C>A)
c.2888C>A (p.Thr963Lys)
c.3509C>A (p.Thr1170Lys)
c.3176C>A (p.Thr1059Lys)
c.3257C>A (p.Thr1086Lys)
c.3275C>A (p.Thr1092Lys)
n.3648C>A
n.3872C>A
c.2444C>A (p.Thr815Lys)
c.2219C>A (p.Thr740Lys)
c.3314C>A (p.Thr1105Lys)
c.1287C>A
c.*610C>A (n.*610C>A)
n.4253C>A
n.2854C>A
c.3365C>A (p.Thr1122Lys)
c.3413C>A (p.Thr1138Lys)
c.3473C>A (p.Thr1158Lys)
c.3023C>A (p.Thr1008Lys)
c.1325C>A (p.Thr442Lys)
c.1142C>A (p.Thr381Lys)
c.3374C>A (p.Thr1125Lys)
c.3326C>A (p.Thr1109Lys)
c.3095C>A (p.Thr1032Lys)
c.2996C>A (p.Thr999Lys)
c.2177C>A (p.Thr726Lys)
n.3728C>A
13g.51941129T>ACA388026269ATP7Bc.*1158A>T (n.*1158A>T)
c.*2252A>T (n.*2252A>T)
c.2887A>T (p.Thr963Ser)
c.3508A>T (p.Thr1170Ser)
c.3175A>T (p.Thr1059Ser)
c.3256A>T (p.Thr1086Ser)
c.3274A>T (p.Thr1092Ser)
n.3647A>T
n.3871A>T
c.2443A>T (p.Thr815Ser)
c.2218A>T (p.Thr740Ser)
c.3313A>T (p.Thr1105Ser)
c.1286A>T
c.*609A>T (n.*609A>T)
n.4252A>T
n.2853A>T
c.3364A>T (p.Thr1122Ser)
c.3412A>T (p.Thr1138Ser)
c.3472A>T (p.Thr1158Ser)
c.3022A>T (p.Thr1008Ser)
c.1324A>T (p.Thr442Ser)
c.1141A>T (p.Thr381Ser)
c.3373A>T (p.Thr1125Ser)
c.3325A>T (p.Thr1109Ser)
c.3094A>T (p.Thr1032Ser)
c.2995A>T (p.Thr999Ser)
c.2176A>T (p.Thr726Ser)
n.3727A>T
13g.51941129T>CCA388026265ATP7Bc.*1158A>G (n.*1158A>G)
c.*2252A>G (n.*2252A>G)
c.2887A>G (p.Thr963Ala)
c.3508A>G (p.Thr1170Ala)
c.3175A>G (p.Thr1059Ala)
c.3256A>G (p.Thr1086Ala)
c.3274A>G (p.Thr1092Ala)
n.3647A>G
n.3871A>G
c.2443A>G (p.Thr815Ala)
c.2218A>G (p.Thr740Ala)
c.3313A>G (p.Thr1105Ala)
c.1286A>G
c.*609A>G (n.*609A>G)
n.4252A>G
n.2853A>G
c.3364A>G (p.Thr1122Ala)
c.3412A>G (p.Thr1138Ala)
c.3472A>G (p.Thr1158Ala)
c.3022A>G (p.Thr1008Ala)
c.1324A>G (p.Thr442Ala)
c.1141A>G (p.Thr381Ala)
c.3373A>G (p.Thr1125Ala)
c.3325A>G (p.Thr1109Ala)
c.3094A>G (p.Thr1032Ala)
c.2995A>G (p.Thr999Ala)
c.2176A>G (p.Thr726Ala)
n.3727A>G
13g.51941129T>GCA388026268ATP7Bc.*1158A>C (n.*1158A>C)
c.*2252A>C (n.*2252A>C)
c.2887A>C (p.Thr963Pro)
c.3508A>C (p.Thr1170Pro)
c.3175A>C (p.Thr1059Pro)
c.3256A>C (p.Thr1086Pro)
c.3274A>C (p.Thr1092Pro)
n.3647A>C
n.3871A>C
c.2443A>C (p.Thr815Pro)
c.2218A>C (p.Thr740Pro)
c.3313A>C (p.Thr1105Pro)
c.1286A>C
c.*609A>C (n.*609A>C)
n.4252A>C
n.2853A>C
c.3364A>C (p.Thr1122Pro)
c.3412A>C (p.Thr1138Pro)
c.3472A>C (p.Thr1158Pro)
c.3022A>C (p.Thr1008Pro)
c.1324A>C (p.Thr442Pro)
c.1141A>C (p.Thr381Pro)
c.3373A>C (p.Thr1125Pro)
c.3325A>C (p.Thr1109Pro)
c.3094A>C (p.Thr1032Pro)
c.2995A>C (p.Thr999Pro)
c.2176A>C (p.Thr726Pro)
n.3727A>C
13g.51941130C>ACA388026273ATP7Bc.*1157G>T (n.*1157G>T)
c.*2251G>T (n.*2251G>T)
c.2886G>T (p.Met962Ile)
c.3507G>T (p.Met1169Ile)
c.3174G>T (p.Met1058Ile)
c.3255G>T (p.Met1085Ile)
c.3273G>T (p.Met1091Ile)
n.3646G>T
n.3870G>T
c.2442G>T (p.Met814Ile)
c.2217G>T (p.Met739Ile)
c.3312G>T (p.Met1104Ile)
c.1285G>T
c.*608G>T (n.*608G>T)
n.4251G>T
n.2852G>T
c.3363G>T (p.Met1121Ile)
c.3411G>T (p.Met1137Ile)
c.3471G>T (p.Met1157Ile)
c.3021G>T (p.Met1007Ile)
c.1323G>T (p.Met441Ile)
c.1140G>T (p.Met380Ile)
c.3372G>T (p.Met1124Ile)
c.3324G>T (p.Met1108Ile)
c.3093G>T (p.Met1031Ile)
c.2994G>T (p.Met998Ile)
c.2175G>T (p.Met725Ile)
n.3726G>T
13g.51941130C>GCA388026276ATP7Bc.*1157G>C (n.*1157G>C)
c.*2251G>C (n.*2251G>C)
c.2886G>C (p.Met962Ile)
c.3507G>C (p.Met1169Ile)
c.3174G>C (p.Met1058Ile)
c.3255G>C (p.Met1085Ile)
c.3273G>C (p.Met1091Ile)
n.3646G>C
n.3870G>C
c.2442G>C (p.Met814Ile)
c.2217G>C (p.Met739Ile)
c.3312G>C (p.Met1104Ile)
c.1285G>C
c.*608G>C (n.*608G>C)
n.4251G>C
n.2852G>C
c.3363G>C (p.Met1121Ile)
c.3411G>C (p.Met1137Ile)
c.3471G>C (p.Met1157Ile)
c.3021G>C (p.Met1007Ile)
c.1323G>C (p.Met441Ile)
c.1140G>C (p.Met380Ile)
c.3372G>C (p.Met1124Ile)
c.3324G>C (p.Met1108Ile)
c.3093G>C (p.Met1031Ile)
c.2994G>C (p.Met998Ile)
c.2175G>C (p.Met725Ile)
n.3726G>C
13g.51941130C>TCA388026279ATP7Bc.*1157G>A (n.*1157G>A)
c.*2251G>A (n.*2251G>A)
c.2886G>A (p.Met962Ile)
c.3507G>A (p.Met1169Ile)
c.3174G>A (p.Met1058Ile)
c.3255G>A (p.Met1085Ile)
c.3273G>A (p.Met1091Ile)
n.3646G>A
n.3870G>A
c.2442G>A (p.Met814Ile)
c.2217G>A (p.Met739Ile)
c.3312G>A (p.Met1104Ile)
c.1285G>A
c.*608G>A (n.*608G>A)
n.4251G>A
n.2852G>A
c.3363G>A (p.Met1121Ile)
c.3411G>A (p.Met1137Ile)
c.3471G>A (p.Met1157Ile)
c.3021G>A (p.Met1007Ile)
c.1323G>A (p.Met441Ile)
c.1140G>A (p.Met380Ile)
c.3372G>A (p.Met1124Ile)
c.3324G>A (p.Met1108Ile)
c.3093G>A (p.Met1031Ile)
c.2994G>A (p.Met998Ile)
c.2175G>A (p.Met725Ile)
n.3726G>A
 ClinVar dbSNP gnomAD v4
13g.51941130_51941132delinsCATCA2091559414ATP7Bc.*1155_*1157delinsATG (n.*1155_*1157delinsATG)
c.*2249_*2251delinsATG (n.*2249_*2251delinsATG)
c.2884_2886delinsATG (p.Met962=)
c.3505_3507delinsATG (p.Met1169=)
c.3172_3174delinsATG (p.Met1058=)
c.3253_3255delinsATG (p.Met1085=)
c.3271_3273delinsATG (p.Met1091=)
n.3644_3646delinsATG
n.3868_3870delinsATG
c.2440_2442delinsATG (p.Met814=)
c.2215_2217delinsATG (p.Met739=)
c.3310_3312delinsATG (p.Met1104=)
c.1283_1285delinsATG
c.*606_*608delinsATG (n.*606_*608delinsATG)
n.4249_4251delinsATG
n.2850_2852delinsATG
c.3361_3363delinsATG (p.Met1121=)
c.3409_3411delinsATG (p.Met1137=)
c.3469_3471delinsATG (p.Met1157=)
c.3019_3021delinsATG (p.Met1007=)
c.1321_1323delinsATG (p.Met441=)
c.1138_1140delinsATG (p.Met380=)
c.3370_3372delinsATG (p.Met1124=)
c.3322_3324delinsATG (p.Met1108=)
c.3091_3093delinsATG (p.Met1031=)
c.2992_2994delinsATG (p.Met998=)
c.2173_2175delinsATG (p.Met725=)
n.3724_3726delinsATG
13g.51941131A=CA2091559419ATP7Bc.*1156T= (n.*1156T=)
c.*2250T= (n.*2250T=)
c.2885T= (p.Met962=)
c.3506T= (p.Met1169=)
c.3173T= (p.Met1058=)
c.3254T= (p.Met1085=)
c.3272T= (p.Met1091=)
n.3645T=
n.3869T=
c.2441T= (p.Met814=)
c.2216T= (p.Met739=)
c.3311T= (p.Met1104=)
c.1284T=
c.*607T= (n.*607T=)
n.4250T=
n.2851T=
c.3362T= (p.Met1121=)
c.3410T= (p.Met1137=)
c.3470T= (p.Met1157=)
c.3020T= (p.Met1007=)
c.1322T= (p.Met441=)
c.1139T= (p.Met380=)
c.3371T= (p.Met1124=)
c.3323T= (p.Met1108=)
c.3092T= (p.Met1031=)
c.2993T= (p.Met998=)
c.2174T= (p.Met725=)
n.3725T=
13g.51941131A>CCA388026283ATP7Bc.*1156T>G (n.*1156T>G)
c.*2250T>G (n.*2250T>G)
c.2885T>G (p.Met962Arg)
c.3506T>G (p.Met1169Arg)
c.3173T>G (p.Met1058Arg)
c.3254T>G (p.Met1085Arg)
c.3272T>G (p.Met1091Arg)
n.3645T>G
n.3869T>G
c.2441T>G (p.Met814Arg)
c.2216T>G (p.Met739Arg)
c.3311T>G (p.Met1104Arg)
c.1284T>G
c.*607T>G (n.*607T>G)
n.4250T>G
n.2851T>G
c.3362T>G (p.Met1121Arg)
c.3410T>G (p.Met1137Arg)
c.3470T>G (p.Met1157Arg)
c.3020T>G (p.Met1007Arg)
c.1322T>G (p.Met441Arg)
c.1139T>G (p.Met380Arg)
c.3371T>G (p.Met1124Arg)
c.3323T>G (p.Met1108Arg)
c.3092T>G (p.Met1031Arg)
c.2993T>G (p.Met998Arg)
c.2174T>G (p.Met725Arg)
n.3725T>G
13g.51941131A>GCA388026285ATP7Bc.*1156T>C (n.*1156T>C)
c.*2250T>C (n.*2250T>C)
c.2885T>C (p.Met962Thr)
c.3506T>C (p.Met1169Thr)
c.3173T>C (p.Met1058Thr)
c.3254T>C (p.Met1085Thr)
c.3272T>C (p.Met1091Thr)
n.3645T>C
n.3869T>C
c.2441T>C (p.Met814Thr)
c.2216T>C (p.Met739Thr)
c.3311T>C (p.Met1104Thr)
c.1284T>C
c.*607T>C (n.*607T>C)
n.4250T>C
n.2851T>C
c.3362T>C (p.Met1121Thr)
c.3410T>C (p.Met1137Thr)
c.3470T>C (p.Met1157Thr)
c.3020T>C (p.Met1007Thr)
c.1322T>C (p.Met441Thr)
c.1139T>C (p.Met380Thr)
c.3371T>C (p.Met1124Thr)
c.3323T>C (p.Met1108Thr)
c.3092T>C (p.Met1031Thr)
c.2993T>C (p.Met998Thr)
c.2174T>C (p.Met725Thr)
n.3725T>C
 ClinVar dbSNP
13g.51941131A>TCA388026288ATP7Bc.*1156T>A (n.*1156T>A)
c.*2250T>A (n.*2250T>A)
c.2885T>A (p.Met962Lys)
c.3506T>A (p.Met1169Lys)
c.3173T>A (p.Met1058Lys)
c.3254T>A (p.Met1085Lys)
c.3272T>A (p.Met1091Lys)
n.3645T>A
n.3869T>A
c.2441T>A (p.Met814Lys)
c.2216T>A (p.Met739Lys)
c.3311T>A (p.Met1104Lys)
c.1284T>A
c.*607T>A (n.*607T>A)
n.4250T>A
n.2851T>A
c.3362T>A (p.Met1121Lys)
c.3410T>A (p.Met1137Lys)
c.3470T>A (p.Met1157Lys)
c.3020T>A (p.Met1007Lys)
c.1322T>A (p.Met441Lys)
c.1139T>A (p.Met380Lys)
c.3371T>A (p.Met1124Lys)
c.3323T>A (p.Met1108Lys)
c.3092T>A (p.Met1031Lys)
c.2993T>A (p.Met998Lys)
c.2174T>A (p.Met725Lys)
n.3725T>A
13g.51941132_51941133delCA609963665ATP7Bc.*1155_*1156del (n.*1155_*1156del)
c.*2249_*2250del (n.*2249_*2250del)
c.2884_2885del (p.Met962AspfsTer16)
c.3505_3506del (p.Met1169AspfsTer16)
c.3172_3173del (p.Met1058AspfsTer16)
c.3253_3254del (p.Met1085AspfsTer16)
c.3271_3272del (p.Met1091AspfsTer16)
n.3644_3645del
n.3868_3869del
c.2440_2441del (p.Met814AspfsTer16)
c.2215_2216del (p.Met739AspfsTer16)
c.3310_3311del (p.Met1104AspfsTer16)
c.1283_1284del
c.*606_*607del (n.*606_*607del)
n.4249_4250del
n.2850_2851del
c.3361_3362del (p.Met1121AspfsTer16)
c.3409_3410del (p.Met1137AspfsTer16)
c.3469_3470del (p.Met1157AspfsTer16)
c.3019_3020del (p.Met1007AspfsTer16)
c.1321_1322del (p.Met441AspfsTer16)
c.1138_1139del (p.Met380AspfsTer16)
c.3370_3371del (p.Met1124AspfsTer16)
c.3322_3323del (p.Met1108AspfsTer16)
c.3091_3092del (p.Met1031AspfsTer16)
c.2992_2993del (p.Met998AspfsTer16)
c.2173_2174del (p.Met725AspfsTer16)
n.3724_3725del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51941132T>ACA388026291ATP7Bc.*1155A>T (n.*1155A>T)
c.*2249A>T (n.*2249A>T)
c.2884A>T (p.Met962Leu)
c.3505A>T (p.Met1169Leu)
c.3172A>T (p.Met1058Leu)
c.3253A>T (p.Met1085Leu)
c.3271A>T (p.Met1091Leu)
n.3644A>T
n.3868A>T
c.2440A>T (p.Met814Leu)
c.2215A>T (p.Met739Leu)
c.3310A>T (p.Met1104Leu)
c.1283A>T
c.*606A>T (n.*606A>T)
n.4249A>T
n.2850A>T
c.3361A>T (p.Met1121Leu)
c.3409A>T (p.Met1137Leu)
c.3469A>T (p.Met1157Leu)
c.3019A>T (p.Met1007Leu)
c.1321A>T (p.Met441Leu)
c.1138A>T (p.Met380Leu)
c.3370A>T (p.Met1124Leu)
c.3322A>T (p.Met1108Leu)
c.3091A>T (p.Met1031Leu)
c.2992A>T (p.Met998Leu)
c.2173A>T (p.Met725Leu)
n.3724A>T
13g.51941132T>CCA277193ATP7Bc.*1155A>G (n.*1155A>G)
c.*2249A>G (n.*2249A>G)
c.2884A>G (p.Met962Val)
c.3505A>G (p.Met1169Val)
c.3172A>G (p.Met1058Val)
c.3253A>G (p.Met1085Val)
c.3271A>G (p.Met1091Val)
n.3644A>G
n.3868A>G
c.2440A>G (p.Met814Val)
c.2215A>G (p.Met739Val)
c.3310A>G (p.Met1104Val)
c.1283A>G
c.*606A>G (n.*606A>G)
n.4249A>G
n.2850A>G
c.3361A>G (p.Met1121Val)
c.3409A>G (p.Met1137Val)
c.3469A>G (p.Met1157Val)
c.3019A>G (p.Met1007Val)
c.1321A>G (p.Met441Val)
c.1138A>G (p.Met380Val)
c.3370A>G (p.Met1124Val)
c.3322A>G (p.Met1108Val)
c.3091A>G (p.Met1031Val)
c.2992A>G (p.Met998Val)
c.2173A>G (p.Met725Val)
n.3724A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941132T>GCA388026299ATP7Bc.*1155A>C (n.*1155A>C)
c.*2249A>C (n.*2249A>C)
c.2884A>C (p.Met962Leu)
c.3505A>C (p.Met1169Leu)
c.3172A>C (p.Met1058Leu)
c.3253A>C (p.Met1085Leu)
c.3271A>C (p.Met1091Leu)
n.3644A>C
n.3868A>C
c.2440A>C (p.Met814Leu)
c.2215A>C (p.Met739Leu)
c.3310A>C (p.Met1104Leu)
c.1283A>C
c.*606A>C (n.*606A>C)
n.4249A>C
n.2850A>C
c.3361A>C (p.Met1121Leu)
c.3409A>C (p.Met1137Leu)
c.3469A>C (p.Met1157Leu)
c.3019A>C (p.Met1007Leu)
c.1321A>C (p.Met441Leu)
c.1138A>C (p.Met380Leu)
c.3370A>C (p.Met1124Leu)
c.3322A>C (p.Met1108Leu)
c.3091A>C (p.Met1031Leu)
c.2992A>C (p.Met998Leu)
c.2173A>C (p.Met725Leu)
n.3724A>C
 gnomAD v4
13g.51941132T=CA2091559428ATP7Bc.*1155A= (n.*1155A=)
c.*2249A= (n.*2249A=)
c.2884A= (p.Met962=)
c.3505A= (p.Met1169=)
c.3172A= (p.Met1058=)
c.3253A= (p.Met1085=)
c.3271A= (p.Met1091=)
n.3644A=
n.3868A=
c.2440A= (p.Met814=)
c.2215A= (p.Met739=)
c.3310A= (p.Met1104=)
c.1283A=
c.*606A= (n.*606A=)
n.4249A=
n.2850A=
c.3361A= (p.Met1121=)
c.3409A= (p.Met1137=)
c.3469A= (p.Met1157=)
c.3019A= (p.Met1007=)
c.1321A= (p.Met441=)
c.1138A= (p.Met380=)
c.3370A= (p.Met1124=)
c.3322A= (p.Met1108=)
c.3091A= (p.Met1031=)
c.2992A= (p.Met998=)
c.2173A= (p.Met725=)
n.3724A=
13g.51941133A=CA2091559435ATP7Bc.*1154T= (n.*1154T=)
c.*2248T= (n.*2248T=)
c.2883T= (p.Ala961=)
c.3504T= (p.Ala1168=)
c.3171T= (p.Ala1057=)
c.3252T= (p.Ala1084=)
c.3270T= (p.Ala1090=)
n.3643T=
n.3867T=
c.2439T= (p.Ala813=)
c.2214T= (p.Ala738=)
c.3309T= (p.Ala1103=)
c.1282T=
c.*605T= (n.*605T=)
n.4248T=
n.2849T=
c.3360T= (p.Ala1120=)
c.3408T= (p.Ala1136=)
c.3468T= (p.Ala1156=)
c.3018T= (p.Ala1006=)
c.1320T= (p.Ala440=)
c.1137T= (p.Ala379=)
c.3369T= (p.Ala1123=)
c.3321T= (p.Ala1107=)
c.3090T= (p.Ala1030=)
c.2991T= (p.Ala997=)
c.2172T= (p.Ala724=)
n.3723T=
13g.51941133A>CCA483893950ATP7Bc.*1154T>G (n.*1154T>G)
c.*2248T>G (n.*2248T>G)
c.2883T>G (p.Ala961=)
c.3504T>G (p.Ala1168=)
c.3171T>G (p.Ala1057=)
c.3252T>G (p.Ala1084=)
c.3270T>G (p.Ala1090=)
n.3643T>G
n.3867T>G
c.2439T>G (p.Ala813=)
c.2214T>G (p.Ala738=)
c.3309T>G (p.Ala1103=)
c.1282T>G
c.*605T>G (n.*605T>G)
n.4248T>G
n.2849T>G
c.3360T>G (p.Ala1120=)
c.3408T>G (p.Ala1136=)
c.3468T>G (p.Ala1156=)
c.3018T>G (p.Ala1006=)
c.1320T>G (p.Ala440=)
c.1137T>G (p.Ala379=)
c.3369T>G (p.Ala1123=)
c.3321T>G (p.Ala1107=)
c.3090T>G (p.Ala1030=)
c.2991T>G (p.Ala997=)
c.2172T>G (p.Ala724=)
n.3723T>G
13g.51941133A>GCA483893951ATP7Bc.*1154T>C (n.*1154T>C)
c.*2248T>C (n.*2248T>C)
c.2883T>C (p.Ala961=)
c.3504T>C (p.Ala1168=)
c.3171T>C (p.Ala1057=)
c.3252T>C (p.Ala1084=)
c.3270T>C (p.Ala1090=)
n.3643T>C
n.3867T>C
c.2439T>C (p.Ala813=)
c.2214T>C (p.Ala738=)
c.3309T>C (p.Ala1103=)
c.1282T>C
c.*605T>C (n.*605T>C)
n.4248T>C
n.2849T>C
c.3360T>C (p.Ala1120=)
c.3408T>C (p.Ala1136=)
c.3468T>C (p.Ala1156=)
c.3018T>C (p.Ala1006=)
c.1320T>C (p.Ala440=)
c.1137T>C (p.Ala379=)
c.3369T>C (p.Ala1123=)
c.3321T>C (p.Ala1107=)
c.3090T>C (p.Ala1030=)
c.2991T>C (p.Ala997=)
c.2172T>C (p.Ala724=)
n.3723T>C
 ClinVar gnomAD v4
13g.51941133A>TCA6988670ATP7Bc.*1154T>A (n.*1154T>A)
c.*2248T>A (n.*2248T>A)
c.2883T>A (p.Ala961=)
c.3504T>A (p.Ala1168=)
c.3171T>A (p.Ala1057=)
c.3252T>A (p.Ala1084=)
c.3270T>A (p.Ala1090=)
n.3643T>A
n.3867T>A
c.2439T>A (p.Ala813=)
c.2214T>A (p.Ala738=)
c.3309T>A (p.Ala1103=)
c.1282T>A
c.*605T>A (n.*605T>A)
n.4248T>A
n.2849T>A
c.3360T>A (p.Ala1120=)
c.3408T>A (p.Ala1136=)
c.3468T>A (p.Ala1156=)
c.3018T>A (p.Ala1006=)
c.1320T>A (p.Ala440=)
c.1137T>A (p.Ala379=)
c.3369T>A (p.Ala1123=)
c.3321T>A (p.Ala1107=)
c.3090T>A (p.Ala1030=)
c.2991T>A (p.Ala997=)
c.2172T>A (p.Ala724=)
n.3723T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched