Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51939013A>GCA2799207282ATP7Bc.*1349+38T>C (n.*1349+38T>C)
c.*2443+38T>C (n.*2443+38T>C)
c.3078+38T>C (n.3078+38T>C)
c.3699+38T>C (n.3699+38T>C)
c.3366+38T>C (n.3366+38T>C)
c.3447+38T>C (n.3447+38T>C)
n.940+38T>C
c.3465+38T>C (n.3465+38T>C)
n.3838+38T>C
n.565+38T>C
c.2634+38T>C (n.2634+38T>C)
c.2409+38T>C (n.2409+38T>C)
c.3504+38T>C (n.3504+38T>C)
c.1477+38T>C
c.*800+38T>C (n.*800+38T>C)
n.4443+38T>C
n.3044+38T>C
c.3555+38T>C (n.3555+38T>C)
c.3603+38T>C (n.3603+38T>C)
c.3663+38T>C (n.3663+38T>C)
c.3213+38T>C (n.3213+38T>C)
c.1515+38T>C (n.1515+38T>C)
c.1332+38T>C (n.1332+38T>C)
c.3564+38T>C (n.3564+38T>C)
c.3516+38T>C (n.3516+38T>C)
c.3285+38T>C (n.3285+38T>C)
c.3186+38T>C (n.3186+38T>C)
c.2367+38T>C (n.2367+38T>C)
n.3918+38T>C
13g.51939013A>TCA2575420528ATP7Bc.*1349+38T>A (n.*1349+38T>A)
c.*2443+38T>A (n.*2443+38T>A)
c.3078+38T>A (n.3078+38T>A)
c.3699+38T>A (n.3699+38T>A)
c.3366+38T>A (n.3366+38T>A)
c.3447+38T>A (n.3447+38T>A)
n.940+38T>A
c.3465+38T>A (n.3465+38T>A)
n.3838+38T>A
n.565+38T>A
c.2634+38T>A (n.2634+38T>A)
c.2409+38T>A (n.2409+38T>A)
c.3504+38T>A (n.3504+38T>A)
c.1477+38T>A
c.*800+38T>A (n.*800+38T>A)
n.4443+38T>A
n.3044+38T>A
c.3555+38T>A (n.3555+38T>A)
c.3603+38T>A (n.3603+38T>A)
c.3663+38T>A (n.3663+38T>A)
c.3213+38T>A (n.3213+38T>A)
c.1515+38T>A (n.1515+38T>A)
c.1332+38T>A (n.1332+38T>A)
c.3564+38T>A (n.3564+38T>A)
c.3516+38T>A (n.3516+38T>A)
c.3285+38T>A (n.3285+38T>A)
c.3186+38T>A (n.3186+38T>A)
c.2367+38T>A (n.2367+38T>A)
n.3918+38T>A
13g.51939014T>CCA2623119621ATP7Bc.*1349+37A>G (n.*1349+37A>G)
c.*2443+37A>G (n.*2443+37A>G)
c.3078+37A>G (n.3078+37A>G)
c.3699+37A>G (n.3699+37A>G)
c.3366+37A>G (n.3366+37A>G)
c.3447+37A>G (n.3447+37A>G)
n.940+37A>G
c.3465+37A>G (n.3465+37A>G)
n.3838+37A>G
n.565+37A>G
c.2634+37A>G (n.2634+37A>G)
c.2409+37A>G (n.2409+37A>G)
c.3504+37A>G (n.3504+37A>G)
c.1477+37A>G
c.*800+37A>G (n.*800+37A>G)
n.4443+37A>G
n.3044+37A>G
c.3555+37A>G (n.3555+37A>G)
c.3603+37A>G (n.3603+37A>G)
c.3663+37A>G (n.3663+37A>G)
c.3213+37A>G (n.3213+37A>G)
c.1515+37A>G (n.1515+37A>G)
c.1332+37A>G (n.1332+37A>G)
c.3564+37A>G (n.3564+37A>G)
c.3516+37A>G (n.3516+37A>G)
c.3285+37A>G (n.3285+37A>G)
c.3186+37A>G (n.3186+37A>G)
c.2367+37A>G (n.2367+37A>G)
n.3918+37A>G
 dbSNP gnomAD v4
13g.51939014T>GCA2575420529ATP7Bc.*1349+37A>C (n.*1349+37A>C)
c.*2443+37A>C (n.*2443+37A>C)
c.3078+37A>C (n.3078+37A>C)
c.3699+37A>C (n.3699+37A>C)
c.3366+37A>C (n.3366+37A>C)
c.3447+37A>C (n.3447+37A>C)
n.940+37A>C
c.3465+37A>C (n.3465+37A>C)
n.3838+37A>C
n.565+37A>C
c.2634+37A>C (n.2634+37A>C)
c.2409+37A>C (n.2409+37A>C)
c.3504+37A>C (n.3504+37A>C)
c.1477+37A>C
c.*800+37A>C (n.*800+37A>C)
n.4443+37A>C
n.3044+37A>C
c.3555+37A>C (n.3555+37A>C)
c.3603+37A>C (n.3603+37A>C)
c.3663+37A>C (n.3663+37A>C)
c.3213+37A>C (n.3213+37A>C)
c.1515+37A>C (n.1515+37A>C)
c.1332+37A>C (n.1332+37A>C)
c.3564+37A>C (n.3564+37A>C)
c.3516+37A>C (n.3516+37A>C)
c.3285+37A>C (n.3285+37A>C)
c.3186+37A>C (n.3186+37A>C)
c.2367+37A>C (n.2367+37A>C)
n.3918+37A>C
 gnomAD v4
13g.51939015G>ACA2091556487ATP7Bc.*1349+36C>T (n.*1349+36C>T)
c.*2443+36C>T (n.*2443+36C>T)
c.3078+36C>T (n.3078+36C>T)
c.3699+36C>T (n.3699+36C>T)
c.3366+36C>T (n.3366+36C>T)
c.3447+36C>T (n.3447+36C>T)
n.940+36C>T
c.3465+36C>T (n.3465+36C>T)
n.3838+36C>T
n.565+36C>T
c.2634+36C>T (n.2634+36C>T)
c.2409+36C>T (n.2409+36C>T)
c.3504+36C>T (n.3504+36C>T)
c.1477+36C>T
c.*800+36C>T (n.*800+36C>T)
n.4443+36C>T
n.3044+36C>T
c.3555+36C>T (n.3555+36C>T)
c.3603+36C>T (n.3603+36C>T)
c.3663+36C>T (n.3663+36C>T)
c.3213+36C>T (n.3213+36C>T)
c.1515+36C>T (n.1515+36C>T)
c.1332+36C>T (n.1332+36C>T)
c.3564+36C>T (n.3564+36C>T)
c.3516+36C>T (n.3516+36C>T)
c.3285+36C>T (n.3285+36C>T)
c.3186+36C>T (n.3186+36C>T)
c.2367+36C>T (n.2367+36C>T)
n.3918+36C>T
 dbSNP
13g.51939015G=CA2091556482ATP7Bc.*1349+36C= (n.*1349+36C=)
c.*2443+36C= (n.*2443+36C=)
c.3078+36C= (n.3078+36C=)
c.3699+36C= (n.3699+36C=)
c.3366+36C= (n.3366+36C=)
c.3447+36C= (n.3447+36C=)
n.940+36C=
c.3465+36C= (n.3465+36C=)
n.3838+36C=
n.565+36C=
c.2634+36C= (n.2634+36C=)
c.2409+36C= (n.2409+36C=)
c.3504+36C= (n.3504+36C=)
c.1477+36C=
c.*800+36C= (n.*800+36C=)
n.4443+36C=
n.3044+36C=
c.3555+36C= (n.3555+36C=)
c.3603+36C= (n.3603+36C=)
c.3663+36C= (n.3663+36C=)
c.3213+36C= (n.3213+36C=)
c.1515+36C= (n.1515+36C=)
c.1332+36C= (n.1332+36C=)
c.3564+36C= (n.3564+36C=)
c.3516+36C= (n.3516+36C=)
c.3285+36C= (n.3285+36C=)
c.3186+36C= (n.3186+36C=)
c.2367+36C= (n.2367+36C=)
n.3918+36C=
13g.51939018C=CA2091556493ATP7Bc.*1349+33G= (n.*1349+33G=)
c.*2443+33G= (n.*2443+33G=)
c.3078+33G= (n.3078+33G=)
c.3699+33G= (n.3699+33G=)
c.3366+33G= (n.3366+33G=)
c.3447+33G= (n.3447+33G=)
n.940+33G=
c.3465+33G= (n.3465+33G=)
n.3838+33G=
n.565+33G=
c.2634+33G= (n.2634+33G=)
c.2409+33G= (n.2409+33G=)
c.3504+33G= (n.3504+33G=)
c.1477+33G=
c.*800+33G= (n.*800+33G=)
n.4443+33G=
n.3044+33G=
c.3555+33G= (n.3555+33G=)
c.3603+33G= (n.3603+33G=)
c.3663+33G= (n.3663+33G=)
c.3213+33G= (n.3213+33G=)
c.1515+33G= (n.1515+33G=)
c.1332+33G= (n.1332+33G=)
c.3564+33G= (n.3564+33G=)
c.3516+33G= (n.3516+33G=)
c.3285+33G= (n.3285+33G=)
c.3186+33G= (n.3186+33G=)
c.2367+33G= (n.2367+33G=)
n.3918+33G=
13g.51939018C>GCA609963159ATP7Bc.*1349+33G>C (n.*1349+33G>C)
c.*2443+33G>C (n.*2443+33G>C)
c.3078+33G>C (n.3078+33G>C)
c.3699+33G>C (n.3699+33G>C)
c.3366+33G>C (n.3366+33G>C)
c.3447+33G>C (n.3447+33G>C)
n.940+33G>C
c.3465+33G>C (n.3465+33G>C)
n.3838+33G>C
n.565+33G>C
c.2634+33G>C (n.2634+33G>C)
c.2409+33G>C (n.2409+33G>C)
c.3504+33G>C (n.3504+33G>C)
c.1477+33G>C
c.*800+33G>C (n.*800+33G>C)
n.4443+33G>C
n.3044+33G>C
c.3555+33G>C (n.3555+33G>C)
c.3603+33G>C (n.3603+33G>C)
c.3663+33G>C (n.3663+33G>C)
c.3213+33G>C (n.3213+33G>C)
c.1515+33G>C (n.1515+33G>C)
c.1332+33G>C (n.1332+33G>C)
c.3564+33G>C (n.3564+33G>C)
c.3516+33G>C (n.3516+33G>C)
c.3285+33G>C (n.3285+33G>C)
c.3186+33G>C (n.3186+33G>C)
c.2367+33G>C (n.2367+33G>C)
n.3918+33G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51939018C>TCA2623119622ATP7Bc.*1349+33G>A (n.*1349+33G>A)
c.*2443+33G>A (n.*2443+33G>A)
c.3078+33G>A (n.3078+33G>A)
c.3699+33G>A (n.3699+33G>A)
c.3366+33G>A (n.3366+33G>A)
c.3447+33G>A (n.3447+33G>A)
n.940+33G>A
c.3465+33G>A (n.3465+33G>A)
n.3838+33G>A
n.565+33G>A
c.2634+33G>A (n.2634+33G>A)
c.2409+33G>A (n.2409+33G>A)
c.3504+33G>A (n.3504+33G>A)
c.1477+33G>A
c.*800+33G>A (n.*800+33G>A)
n.4443+33G>A
n.3044+33G>A
c.3555+33G>A (n.3555+33G>A)
c.3603+33G>A (n.3603+33G>A)
c.3663+33G>A (n.3663+33G>A)
c.3213+33G>A (n.3213+33G>A)
c.1515+33G>A (n.1515+33G>A)
c.1332+33G>A (n.1332+33G>A)
c.3564+33G>A (n.3564+33G>A)
c.3516+33G>A (n.3516+33G>A)
c.3285+33G>A (n.3285+33G>A)
c.3186+33G>A (n.3186+33G>A)
c.2367+33G>A (n.2367+33G>A)
n.3918+33G>A
 gnomAD v4
13g.51939021_51939023delinsTACCA2091556496ATP7Bc.*1349+28_*1349+30delinsGTA (n.*1349+28_*1349+30delinsGTA)
c.*2443+28_*2443+30delinsGTA (n.*2443+28_*2443+30delinsGTA)
c.3078+28_3078+30delinsGTA (n.3078+28_3078+30delinsGTA)
c.3699+28_3699+30delinsGTA (n.3699+28_3699+30delinsGTA)
c.3366+28_3366+30delinsGTA (n.3366+28_3366+30delinsGTA)
c.3447+28_3447+30delinsGTA (n.3447+28_3447+30delinsGTA)
n.940+28_940+30delinsGTA
c.3465+28_3465+30delinsGTA (n.3465+28_3465+30delinsGTA)
n.3838+28_3838+30delinsGTA
n.565+28_565+30delinsGTA
c.2634+28_2634+30delinsGTA (n.2634+28_2634+30delinsGTA)
c.2409+28_2409+30delinsGTA (n.2409+28_2409+30delinsGTA)
c.3504+28_3504+30delinsGTA (n.3504+28_3504+30delinsGTA)
c.1477+28_1477+30delinsGTA
c.*800+28_*800+30delinsGTA (n.*800+28_*800+30delinsGTA)
n.4443+28_4443+30delinsGTA
n.3044+28_3044+30delinsGTA
c.3555+28_3555+30delinsGTA (n.3555+28_3555+30delinsGTA)
c.3603+28_3603+30delinsGTA (n.3603+28_3603+30delinsGTA)
c.3663+28_3663+30delinsGTA (n.3663+28_3663+30delinsGTA)
c.3213+28_3213+30delinsGTA (n.3213+28_3213+30delinsGTA)
c.1515+28_1515+30delinsGTA (n.1515+28_1515+30delinsGTA)
c.1332+28_1332+30delinsGTA (n.1332+28_1332+30delinsGTA)
c.3564+28_3564+30delinsGTA (n.3564+28_3564+30delinsGTA)
c.3516+28_3516+30delinsGTA (n.3516+28_3516+30delinsGTA)
c.3285+28_3285+30delinsGTA (n.3285+28_3285+30delinsGTA)
c.3186+28_3186+30delinsGTA (n.3186+28_3186+30delinsGTA)
c.2367+28_2367+30delinsGTA (n.2367+28_2367+30delinsGTA)
n.3918+28_3918+30delinsGTA
13g.51939025_51939026delCA609963160ATP7Bc.*1349+28_*1349+29del (n.*1349+28_*1349+29del)
c.*2443+28_*2443+29del (n.*2443+28_*2443+29del)
c.3078+28_3078+29del (n.3078+28_3078+29del)
c.3699+28_3699+29del (n.3699+28_3699+29del)
c.3366+28_3366+29del (n.3366+28_3366+29del)
c.3447+28_3447+29del (n.3447+28_3447+29del)
n.940+28_940+29del
c.3465+28_3465+29del (n.3465+28_3465+29del)
n.3838+28_3838+29del
n.565+28_565+29del
c.2634+28_2634+29del (n.2634+28_2634+29del)
c.2409+28_2409+29del (n.2409+28_2409+29del)
c.3504+28_3504+29del (n.3504+28_3504+29del)
c.1477+28_1477+29del
c.*800+28_*800+29del (n.*800+28_*800+29del)
n.4443+28_4443+29del
n.3044+28_3044+29del
c.3555+28_3555+29del (n.3555+28_3555+29del)
c.3603+28_3603+29del (n.3603+28_3603+29del)
c.3663+28_3663+29del (n.3663+28_3663+29del)
c.3213+28_3213+29del (n.3213+28_3213+29del)
c.1515+28_1515+29del (n.1515+28_1515+29del)
c.1332+28_1332+29del (n.1332+28_1332+29del)
c.3564+28_3564+29del (n.3564+28_3564+29del)
c.3516+28_3516+29del (n.3516+28_3516+29del)
c.3285+28_3285+29del (n.3285+28_3285+29del)
c.3186+28_3186+29del (n.3186+28_3186+29del)
c.2367+28_2367+29del (n.2367+28_2367+29del)
n.3918+28_3918+29del
 dbSNP gnomAD v2 gnomAD v4
13g.51939023C=CA2091556501ATP7Bc.*1349+28G= (n.*1349+28G=)
c.*2443+28G= (n.*2443+28G=)
c.3078+28G= (n.3078+28G=)
c.3699+28G= (n.3699+28G=)
c.3366+28G= (n.3366+28G=)
c.3447+28G= (n.3447+28G=)
n.940+28G=
c.3465+28G= (n.3465+28G=)
n.3838+28G=
n.565+28G=
c.2634+28G= (n.2634+28G=)
c.2409+28G= (n.2409+28G=)
c.3504+28G= (n.3504+28G=)
c.1477+28G=
c.*800+28G= (n.*800+28G=)
n.4443+28G=
n.3044+28G=
c.3555+28G= (n.3555+28G=)
c.3603+28G= (n.3603+28G=)
c.3663+28G= (n.3663+28G=)
c.3213+28G= (n.3213+28G=)
c.1515+28G= (n.1515+28G=)
c.1332+28G= (n.1332+28G=)
c.3564+28G= (n.3564+28G=)
c.3516+28G= (n.3516+28G=)
c.3285+28G= (n.3285+28G=)
c.3186+28G= (n.3186+28G=)
c.2367+28G= (n.2367+28G=)
n.3918+28G=
13g.51939023C>TCA2091556502ATP7Bc.*1349+28G>A (n.*1349+28G>A)
c.*2443+28G>A (n.*2443+28G>A)
c.3078+28G>A (n.3078+28G>A)
c.3699+28G>A (n.3699+28G>A)
c.3366+28G>A (n.3366+28G>A)
c.3447+28G>A (n.3447+28G>A)
n.940+28G>A
c.3465+28G>A (n.3465+28G>A)
n.3838+28G>A
n.565+28G>A
c.2634+28G>A (n.2634+28G>A)
c.2409+28G>A (n.2409+28G>A)
c.3504+28G>A (n.3504+28G>A)
c.1477+28G>A
c.*800+28G>A (n.*800+28G>A)
n.4443+28G>A
n.3044+28G>A
c.3555+28G>A (n.3555+28G>A)
c.3603+28G>A (n.3603+28G>A)
c.3663+28G>A (n.3663+28G>A)
c.3213+28G>A (n.3213+28G>A)
c.1515+28G>A (n.1515+28G>A)
c.1332+28G>A (n.1332+28G>A)
c.3564+28G>A (n.3564+28G>A)
c.3516+28G>A (n.3516+28G>A)
c.3285+28G>A (n.3285+28G>A)
c.3186+28G>A (n.3186+28G>A)
c.2367+28G>A (n.2367+28G>A)
n.3918+28G>A
 dbSNP gnomAD v4
13g.51939024A=CA2091556505ATP7Bc.*1349+27T= (n.*1349+27T=)
c.*2443+27T= (n.*2443+27T=)
c.3078+27T= (n.3078+27T=)
c.3699+27T= (n.3699+27T=)
c.3366+27T= (n.3366+27T=)
c.3447+27T= (n.3447+27T=)
n.940+27T=
c.3465+27T= (n.3465+27T=)
n.3838+27T=
n.565+27T=
c.2634+27T= (n.2634+27T=)
c.2409+27T= (n.2409+27T=)
c.3504+27T= (n.3504+27T=)
c.1477+27T=
c.*800+27T= (n.*800+27T=)
n.4443+27T=
n.3044+27T=
c.3555+27T= (n.3555+27T=)
c.3603+27T= (n.3603+27T=)
c.3663+27T= (n.3663+27T=)
c.3213+27T= (n.3213+27T=)
c.1515+27T= (n.1515+27T=)
c.1332+27T= (n.1332+27T=)
c.3564+27T= (n.3564+27T=)
c.3516+27T= (n.3516+27T=)
c.3285+27T= (n.3285+27T=)
c.3186+27T= (n.3186+27T=)
c.2367+27T= (n.2367+27T=)
n.3918+27T=
13g.51939024A>GCA6988602ATP7Bc.*1349+27T>C (n.*1349+27T>C)
c.*2443+27T>C (n.*2443+27T>C)
c.3078+27T>C (n.3078+27T>C)
c.3699+27T>C (n.3699+27T>C)
c.3366+27T>C (n.3366+27T>C)
c.3447+27T>C (n.3447+27T>C)
n.940+27T>C
c.3465+27T>C (n.3465+27T>C)
n.3838+27T>C
n.565+27T>C
c.2634+27T>C (n.2634+27T>C)
c.2409+27T>C (n.2409+27T>C)
c.3504+27T>C (n.3504+27T>C)
c.1477+27T>C
c.*800+27T>C (n.*800+27T>C)
n.4443+27T>C
n.3044+27T>C
c.3555+27T>C (n.3555+27T>C)
c.3603+27T>C (n.3603+27T>C)
c.3663+27T>C (n.3663+27T>C)
c.3213+27T>C (n.3213+27T>C)
c.1515+27T>C (n.1515+27T>C)
c.1332+27T>C (n.1332+27T>C)
c.3564+27T>C (n.3564+27T>C)
c.3516+27T>C (n.3516+27T>C)
c.3285+27T>C (n.3285+27T>C)
c.3186+27T>C (n.3186+27T>C)
c.2367+27T>C (n.2367+27T>C)
n.3918+27T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51939025C>ACA6988603ATP7Bc.*1349+26G>T (n.*1349+26G>T)
c.*2443+26G>T (n.*2443+26G>T)
c.3078+26G>T (n.3078+26G>T)
c.3699+26G>T (n.3699+26G>T)
c.3366+26G>T (n.3366+26G>T)
c.3447+26G>T (n.3447+26G>T)
n.940+26G>T
c.3465+26G>T (n.3465+26G>T)
n.3838+26G>T
n.565+26G>T
c.2634+26G>T (n.2634+26G>T)
c.2409+26G>T (n.2409+26G>T)
c.3504+26G>T (n.3504+26G>T)
c.1477+26G>T
c.*800+26G>T (n.*800+26G>T)
n.4443+26G>T
n.3044+26G>T
c.3555+26G>T (n.3555+26G>T)
c.3603+26G>T (n.3603+26G>T)
c.3663+26G>T (n.3663+26G>T)
c.3213+26G>T (n.3213+26G>T)
c.1515+26G>T (n.1515+26G>T)
c.1332+26G>T (n.1332+26G>T)
c.3564+26G>T (n.3564+26G>T)
c.3516+26G>T (n.3516+26G>T)
c.3285+26G>T (n.3285+26G>T)
c.3186+26G>T (n.3186+26G>T)
c.2367+26G>T (n.2367+26G>T)
n.3918+26G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51939025C=CA2091556514ATP7Bc.*1349+26G= (n.*1349+26G=)
c.*2443+26G= (n.*2443+26G=)
c.3078+26G= (n.3078+26G=)
c.3699+26G= (n.3699+26G=)
c.3366+26G= (n.3366+26G=)
c.3447+26G= (n.3447+26G=)
n.940+26G=
c.3465+26G= (n.3465+26G=)
n.3838+26G=
n.565+26G=
c.2634+26G= (n.2634+26G=)
c.2409+26G= (n.2409+26G=)
c.3504+26G= (n.3504+26G=)
c.1477+26G=
c.*800+26G= (n.*800+26G=)
n.4443+26G=
n.3044+26G=
c.3555+26G= (n.3555+26G=)
c.3603+26G= (n.3603+26G=)
c.3663+26G= (n.3663+26G=)
c.3213+26G= (n.3213+26G=)
c.1515+26G= (n.1515+26G=)
c.1332+26G= (n.1332+26G=)
c.3564+26G= (n.3564+26G=)
c.3516+26G= (n.3516+26G=)
c.3285+26G= (n.3285+26G=)
c.3186+26G= (n.3186+26G=)
c.2367+26G= (n.2367+26G=)
n.3918+26G=
13g.51939025C>TCA6988604ATP7Bc.*1349+26G>A (n.*1349+26G>A)
c.*2443+26G>A (n.*2443+26G>A)
c.3078+26G>A (n.3078+26G>A)
c.3699+26G>A (n.3699+26G>A)
c.3366+26G>A (n.3366+26G>A)
c.3447+26G>A (n.3447+26G>A)
n.940+26G>A
c.3465+26G>A (n.3465+26G>A)
n.3838+26G>A
n.565+26G>A
c.2634+26G>A (n.2634+26G>A)
c.2409+26G>A (n.2409+26G>A)
c.3504+26G>A (n.3504+26G>A)
c.1477+26G>A
c.*800+26G>A (n.*800+26G>A)
n.4443+26G>A
n.3044+26G>A
c.3555+26G>A (n.3555+26G>A)
c.3603+26G>A (n.3603+26G>A)
c.3663+26G>A (n.3663+26G>A)
c.3213+26G>A (n.3213+26G>A)
c.1515+26G>A (n.1515+26G>A)
c.1332+26G>A (n.1332+26G>A)
c.3564+26G>A (n.3564+26G>A)
c.3516+26G>A (n.3516+26G>A)
c.3285+26G>A (n.3285+26G>A)
c.3186+26G>A (n.3186+26G>A)
c.2367+26G>A (n.2367+26G>A)
n.3918+26G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51939026A=CA2091556517ATP7Bc.*1349+25T= (n.*1349+25T=)
c.*2443+25T= (n.*2443+25T=)
c.3078+25T= (n.3078+25T=)
c.3699+25T= (n.3699+25T=)
c.3366+25T= (n.3366+25T=)
c.3447+25T= (n.3447+25T=)
n.940+25T=
c.3465+25T= (n.3465+25T=)
n.3838+25T=
n.565+25T=
c.2634+25T= (n.2634+25T=)
c.2409+25T= (n.2409+25T=)
c.3504+25T= (n.3504+25T=)
c.1477+25T=
c.*800+25T= (n.*800+25T=)
n.4443+25T=
n.3044+25T=
c.3555+25T= (n.3555+25T=)
c.3603+25T= (n.3603+25T=)
c.3663+25T= (n.3663+25T=)
c.3213+25T= (n.3213+25T=)
c.1515+25T= (n.1515+25T=)
c.1332+25T= (n.1332+25T=)
c.3564+25T= (n.3564+25T=)
c.3516+25T= (n.3516+25T=)
c.3285+25T= (n.3285+25T=)
c.3186+25T= (n.3186+25T=)
c.2367+25T= (n.2367+25T=)
n.3918+25T=
13g.51939026A>CCA2091556518ATP7Bc.*1349+25T>G (n.*1349+25T>G)
c.*2443+25T>G (n.*2443+25T>G)
c.3078+25T>G (n.3078+25T>G)
c.3699+25T>G (n.3699+25T>G)
c.3366+25T>G (n.3366+25T>G)
c.3447+25T>G (n.3447+25T>G)
n.940+25T>G
c.3465+25T>G (n.3465+25T>G)
n.3838+25T>G
n.565+25T>G
c.2634+25T>G (n.2634+25T>G)
c.2409+25T>G (n.2409+25T>G)
c.3504+25T>G (n.3504+25T>G)
c.1477+25T>G
c.*800+25T>G (n.*800+25T>G)
n.4443+25T>G
n.3044+25T>G
c.3555+25T>G (n.3555+25T>G)
c.3603+25T>G (n.3603+25T>G)
c.3663+25T>G (n.3663+25T>G)
c.3213+25T>G (n.3213+25T>G)
c.1515+25T>G (n.1515+25T>G)
c.1332+25T>G (n.1332+25T>G)
c.3564+25T>G (n.3564+25T>G)
c.3516+25T>G (n.3516+25T>G)
c.3285+25T>G (n.3285+25T>G)
c.3186+25T>G (n.3186+25T>G)
c.2367+25T>G (n.2367+25T>G)
n.3918+25T>G
 dbSNP
13g.51939026A>GCA250074920ATP7Bc.*1349+25T>C (n.*1349+25T>C)
c.*2443+25T>C (n.*2443+25T>C)
c.3078+25T>C (n.3078+25T>C)
c.3699+25T>C (n.3699+25T>C)
c.3366+25T>C (n.3366+25T>C)
c.3447+25T>C (n.3447+25T>C)
n.940+25T>C
c.3465+25T>C (n.3465+25T>C)
n.3838+25T>C
n.565+25T>C
c.2634+25T>C (n.2634+25T>C)
c.2409+25T>C (n.2409+25T>C)
c.3504+25T>C (n.3504+25T>C)
c.1477+25T>C
c.*800+25T>C (n.*800+25T>C)
n.4443+25T>C
n.3044+25T>C
c.3555+25T>C (n.3555+25T>C)
c.3603+25T>C (n.3603+25T>C)
c.3663+25T>C (n.3663+25T>C)
c.3213+25T>C (n.3213+25T>C)
c.1515+25T>C (n.1515+25T>C)
c.1332+25T>C (n.1332+25T>C)
c.3564+25T>C (n.3564+25T>C)
c.3516+25T>C (n.3516+25T>C)
c.3285+25T>C (n.3285+25T>C)
c.3186+25T>C (n.3186+25T>C)
c.2367+25T>C (n.2367+25T>C)
n.3918+25T>C
 dbSNP
13g.51939027G>CCA2091556522ATP7Bc.*1349+24C>G (n.*1349+24C>G)
c.*2443+24C>G (n.*2443+24C>G)
c.3078+24C>G (n.3078+24C>G)
c.3699+24C>G (n.3699+24C>G)
c.3366+24C>G (n.3366+24C>G)
c.3447+24C>G (n.3447+24C>G)
n.940+24C>G
c.3465+24C>G (n.3465+24C>G)
n.3838+24C>G
n.565+24C>G
c.2634+24C>G (n.2634+24C>G)
c.2409+24C>G (n.2409+24C>G)
c.3504+24C>G (n.3504+24C>G)
c.1477+24C>G
c.*800+24C>G (n.*800+24C>G)
n.4443+24C>G
n.3044+24C>G
c.3555+24C>G (n.3555+24C>G)
c.3603+24C>G (n.3603+24C>G)
c.3663+24C>G (n.3663+24C>G)
c.3213+24C>G (n.3213+24C>G)
c.1515+24C>G (n.1515+24C>G)
c.1332+24C>G (n.1332+24C>G)
c.3564+24C>G (n.3564+24C>G)
c.3516+24C>G (n.3516+24C>G)
c.3285+24C>G (n.3285+24C>G)
c.3186+24C>G (n.3186+24C>G)
c.2367+24C>G (n.2367+24C>G)
n.3918+24C>G
 dbSNP
13g.51939027G=CA2091556521ATP7Bc.*1349+24C= (n.*1349+24C=)
c.*2443+24C= (n.*2443+24C=)
c.3078+24C= (n.3078+24C=)
c.3699+24C= (n.3699+24C=)
c.3366+24C= (n.3366+24C=)
c.3447+24C= (n.3447+24C=)
n.940+24C=
c.3465+24C= (n.3465+24C=)
n.3838+24C=
n.565+24C=
c.2634+24C= (n.2634+24C=)
c.2409+24C= (n.2409+24C=)
c.3504+24C= (n.3504+24C=)
c.1477+24C=
c.*800+24C= (n.*800+24C=)
n.4443+24C=
n.3044+24C=
c.3555+24C= (n.3555+24C=)
c.3603+24C= (n.3603+24C=)
c.3663+24C= (n.3663+24C=)
c.3213+24C= (n.3213+24C=)
c.1515+24C= (n.1515+24C=)
c.1332+24C= (n.1332+24C=)
c.3564+24C= (n.3564+24C=)
c.3516+24C= (n.3516+24C=)
c.3285+24C= (n.3285+24C=)
c.3186+24C= (n.3186+24C=)
c.2367+24C= (n.2367+24C=)
n.3918+24C=
13g.51939028T>ACA6988605ATP7Bc.*1349+23A>T (n.*1349+23A>T)
c.*2443+23A>T (n.*2443+23A>T)
c.3078+23A>T (n.3078+23A>T)
c.3699+23A>T (n.3699+23A>T)
c.3366+23A>T (n.3366+23A>T)
c.3447+23A>T (n.3447+23A>T)
n.940+23A>T
c.3465+23A>T (n.3465+23A>T)
n.3838+23A>T
n.565+23A>T
c.2634+23A>T (n.2634+23A>T)
c.2409+23A>T (n.2409+23A>T)
c.3504+23A>T (n.3504+23A>T)
c.1477+23A>T
c.*800+23A>T (n.*800+23A>T)
n.4443+23A>T
n.3044+23A>T
c.3555+23A>T (n.3555+23A>T)
c.3603+23A>T (n.3603+23A>T)
c.3663+23A>T (n.3663+23A>T)
c.3213+23A>T (n.3213+23A>T)
c.1515+23A>T (n.1515+23A>T)
c.1332+23A>T (n.1332+23A>T)
c.3564+23A>T (n.3564+23A>T)
c.3516+23A>T (n.3516+23A>T)
c.3285+23A>T (n.3285+23A>T)
c.3186+23A>T (n.3186+23A>T)
c.2367+23A>T (n.2367+23A>T)
n.3918+23A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51939028T>CCA2623119624ATP7Bc.*1349+23A>G (n.*1349+23A>G)
c.*2443+23A>G (n.*2443+23A>G)
c.3078+23A>G (n.3078+23A>G)
c.3699+23A>G (n.3699+23A>G)
c.3366+23A>G (n.3366+23A>G)
c.3447+23A>G (n.3447+23A>G)
n.940+23A>G
c.3465+23A>G (n.3465+23A>G)
n.3838+23A>G
n.565+23A>G
c.2634+23A>G (n.2634+23A>G)
c.2409+23A>G (n.2409+23A>G)
c.3504+23A>G (n.3504+23A>G)
c.1477+23A>G
c.*800+23A>G (n.*800+23A>G)
n.4443+23A>G
n.3044+23A>G
c.3555+23A>G (n.3555+23A>G)
c.3603+23A>G (n.3603+23A>G)
c.3663+23A>G (n.3663+23A>G)
c.3213+23A>G (n.3213+23A>G)
c.1515+23A>G (n.1515+23A>G)
c.1332+23A>G (n.1332+23A>G)
c.3564+23A>G (n.3564+23A>G)
c.3516+23A>G (n.3516+23A>G)
c.3285+23A>G (n.3285+23A>G)
c.3186+23A>G (n.3186+23A>G)
c.2367+23A>G (n.2367+23A>G)
n.3918+23A>G
 gnomAD v4
13g.51939028T=CA2091556523ATP7Bc.*1349+23A= (n.*1349+23A=)
c.*2443+23A= (n.*2443+23A=)
c.3078+23A= (n.3078+23A=)
c.3699+23A= (n.3699+23A=)
c.3366+23A= (n.3366+23A=)
c.3447+23A= (n.3447+23A=)
n.940+23A=
c.3465+23A= (n.3465+23A=)
n.3838+23A=
n.565+23A=
c.2634+23A= (n.2634+23A=)
c.2409+23A= (n.2409+23A=)
c.3504+23A= (n.3504+23A=)
c.1477+23A=
c.*800+23A= (n.*800+23A=)
n.4443+23A=
n.3044+23A=
c.3555+23A= (n.3555+23A=)
c.3603+23A= (n.3603+23A=)
c.3663+23A= (n.3663+23A=)
c.3213+23A= (n.3213+23A=)
c.1515+23A= (n.1515+23A=)
c.1332+23A= (n.1332+23A=)
c.3564+23A= (n.3564+23A=)
c.3516+23A= (n.3516+23A=)
c.3285+23A= (n.3285+23A=)
c.3186+23A= (n.3186+23A=)
c.2367+23A= (n.2367+23A=)
n.3918+23A=
13g.51939029T>CCA2799207283ATP7Bc.*1349+22A>G (n.*1349+22A>G)
c.*2443+22A>G (n.*2443+22A>G)
c.3078+22A>G (n.3078+22A>G)
c.3699+22A>G (n.3699+22A>G)
c.3366+22A>G (n.3366+22A>G)
c.3447+22A>G (n.3447+22A>G)
n.940+22A>G
c.3465+22A>G (n.3465+22A>G)
n.3838+22A>G
n.565+22A>G
c.2634+22A>G (n.2634+22A>G)
c.2409+22A>G (n.2409+22A>G)
c.3504+22A>G (n.3504+22A>G)
c.1477+22A>G
c.*800+22A>G (n.*800+22A>G)
n.4443+22A>G
n.3044+22A>G
c.3555+22A>G (n.3555+22A>G)
c.3603+22A>G (n.3603+22A>G)
c.3663+22A>G (n.3663+22A>G)
c.3213+22A>G (n.3213+22A>G)
c.1515+22A>G (n.1515+22A>G)
c.1332+22A>G (n.1332+22A>G)
c.3564+22A>G (n.3564+22A>G)
c.3516+22A>G (n.3516+22A>G)
c.3285+22A>G (n.3285+22A>G)
c.3186+22A>G (n.3186+22A>G)
c.2367+22A>G (n.2367+22A>G)
n.3918+22A>G
13g.51939030T>GCA2575420530ATP7Bc.*1349+21A>C (n.*1349+21A>C)
c.*2443+21A>C (n.*2443+21A>C)
c.3078+21A>C (n.3078+21A>C)
c.3699+21A>C (n.3699+21A>C)
c.3366+21A>C (n.3366+21A>C)
c.3447+21A>C (n.3447+21A>C)
n.940+21A>C
c.3465+21A>C (n.3465+21A>C)
n.3838+21A>C
n.565+21A>C
c.2634+21A>C (n.2634+21A>C)
c.2409+21A>C (n.2409+21A>C)
c.3504+21A>C (n.3504+21A>C)
c.1477+21A>C
c.*800+21A>C (n.*800+21A>C)
n.4443+21A>C
n.3044+21A>C
c.3555+21A>C (n.3555+21A>C)
c.3603+21A>C (n.3603+21A>C)
c.3663+21A>C (n.3663+21A>C)
c.3213+21A>C (n.3213+21A>C)
c.1515+21A>C (n.1515+21A>C)
c.1332+21A>C (n.1332+21A>C)
c.3564+21A>C (n.3564+21A>C)
c.3516+21A>C (n.3516+21A>C)
c.3285+21A>C (n.3285+21A>C)
c.3186+21A>C (n.3186+21A>C)
c.2367+21A>C (n.2367+21A>C)
n.3918+21A>C
13g.51939033A=CA2091556525ATP7Bc.*1349+18T= (n.*1349+18T=)
c.*2443+18T= (n.*2443+18T=)
c.3078+18T= (n.3078+18T=)
c.3699+18T= (n.3699+18T=)
c.3366+18T= (n.3366+18T=)
c.3447+18T= (n.3447+18T=)
n.940+18T=
c.3465+18T= (n.3465+18T=)
n.3838+18T=
n.565+18T=
c.2634+18T= (n.2634+18T=)
c.2409+18T= (n.2409+18T=)
c.3504+18T= (n.3504+18T=)
c.1477+18T=
c.*800+18T= (n.*800+18T=)
n.4443+18T=
n.3044+18T=
c.3555+18T= (n.3555+18T=)
c.3603+18T= (n.3603+18T=)
c.3663+18T= (n.3663+18T=)
c.3213+18T= (n.3213+18T=)
c.1515+18T= (n.1515+18T=)
c.1332+18T= (n.1332+18T=)
c.3564+18T= (n.3564+18T=)
c.3516+18T= (n.3516+18T=)
c.3285+18T= (n.3285+18T=)
c.3186+18T= (n.3186+18T=)
c.2367+18T= (n.2367+18T=)
n.3918+18T=
13g.51939033A>CCA2580087720ATP7Bc.*1349+18T>G (n.*1349+18T>G)
c.*2443+18T>G (n.*2443+18T>G)
c.3078+18T>G (n.3078+18T>G)
c.3699+18T>G (n.3699+18T>G)
c.3366+18T>G (n.3366+18T>G)
c.3447+18T>G (n.3447+18T>G)
n.940+18T>G
c.3465+18T>G (n.3465+18T>G)
n.3838+18T>G
n.565+18T>G
c.2634+18T>G (n.2634+18T>G)
c.2409+18T>G (n.2409+18T>G)
c.3504+18T>G (n.3504+18T>G)
c.1477+18T>G
c.*800+18T>G (n.*800+18T>G)
n.4443+18T>G
n.3044+18T>G
c.3555+18T>G (n.3555+18T>G)
c.3603+18T>G (n.3603+18T>G)
c.3663+18T>G (n.3663+18T>G)
c.3213+18T>G (n.3213+18T>G)
c.1515+18T>G (n.1515+18T>G)
c.1332+18T>G (n.1332+18T>G)
c.3564+18T>G (n.3564+18T>G)
c.3516+18T>G (n.3516+18T>G)
c.3285+18T>G (n.3285+18T>G)
c.3186+18T>G (n.3186+18T>G)
c.2367+18T>G (n.2367+18T>G)
n.3918+18T>G
 ClinVar
13g.51939033A>TCA6988606ATP7Bc.*1349+18T>A (n.*1349+18T>A)
c.*2443+18T>A (n.*2443+18T>A)
c.3078+18T>A (n.3078+18T>A)
c.3699+18T>A (n.3699+18T>A)
c.3366+18T>A (n.3366+18T>A)
c.3447+18T>A (n.3447+18T>A)
n.940+18T>A
c.3465+18T>A (n.3465+18T>A)
n.3838+18T>A
n.565+18T>A
c.2634+18T>A (n.2634+18T>A)
c.2409+18T>A (n.2409+18T>A)
c.3504+18T>A (n.3504+18T>A)
c.1477+18T>A
c.*800+18T>A (n.*800+18T>A)
n.4443+18T>A
n.3044+18T>A
c.3555+18T>A (n.3555+18T>A)
c.3603+18T>A (n.3603+18T>A)
c.3663+18T>A (n.3663+18T>A)
c.3213+18T>A (n.3213+18T>A)
c.1515+18T>A (n.1515+18T>A)
c.1332+18T>A (n.1332+18T>A)
c.3564+18T>A (n.3564+18T>A)
c.3516+18T>A (n.3516+18T>A)
c.3285+18T>A (n.3285+18T>A)
c.3186+18T>A (n.3186+18T>A)
c.2367+18T>A (n.2367+18T>A)
n.3918+18T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51939034A=CA2091556530ATP7Bc.*1349+17T= (n.*1349+17T=)
c.*2443+17T= (n.*2443+17T=)
c.3078+17T= (n.3078+17T=)
c.3699+17T= (n.3699+17T=)
c.3366+17T= (n.3366+17T=)
c.3447+17T= (n.3447+17T=)
n.940+17T=
c.3465+17T= (n.3465+17T=)
n.3838+17T=
n.565+17T=
c.2634+17T= (n.2634+17T=)
c.2409+17T= (n.2409+17T=)
c.3504+17T= (n.3504+17T=)
c.1477+17T=
c.*800+17T= (n.*800+17T=)
n.4443+17T=
n.3044+17T=
c.3555+17T= (n.3555+17T=)
c.3603+17T= (n.3603+17T=)
c.3663+17T= (n.3663+17T=)
c.3213+17T= (n.3213+17T=)
c.1515+17T= (n.1515+17T=)
c.1332+17T= (n.1332+17T=)
c.3564+17T= (n.3564+17T=)
c.3516+17T= (n.3516+17T=)
c.3285+17T= (n.3285+17T=)
c.3186+17T= (n.3186+17T=)
c.2367+17T= (n.2367+17T=)
n.3918+17T=
13g.51939034A>CCA2573149697ATP7Bc.*1349+17T>G (n.*1349+17T>G)
c.*2443+17T>G (n.*2443+17T>G)
c.3078+17T>G (n.3078+17T>G)
c.3699+17T>G (n.3699+17T>G)
c.3366+17T>G (n.3366+17T>G)
c.3447+17T>G (n.3447+17T>G)
n.940+17T>G
c.3465+17T>G (n.3465+17T>G)
n.3838+17T>G
n.565+17T>G
c.2634+17T>G (n.2634+17T>G)
c.2409+17T>G (n.2409+17T>G)
c.3504+17T>G (n.3504+17T>G)
c.1477+17T>G
c.*800+17T>G (n.*800+17T>G)
n.4443+17T>G
n.3044+17T>G
c.3555+17T>G (n.3555+17T>G)
c.3603+17T>G (n.3603+17T>G)
c.3663+17T>G (n.3663+17T>G)
c.3213+17T>G (n.3213+17T>G)
c.1515+17T>G (n.1515+17T>G)
c.1332+17T>G (n.1332+17T>G)
c.3564+17T>G (n.3564+17T>G)
c.3516+17T>G (n.3516+17T>G)
c.3285+17T>G (n.3285+17T>G)
c.3186+17T>G (n.3186+17T>G)
c.2367+17T>G (n.2367+17T>G)
n.3918+17T>G
 ClinVar dbSNP
13g.51939034A>GCA2623119625ATP7Bc.*1349+17T>C (n.*1349+17T>C)
c.*2443+17T>C (n.*2443+17T>C)
c.3078+17T>C (n.3078+17T>C)
c.3699+17T>C (n.3699+17T>C)
c.3366+17T>C (n.3366+17T>C)
c.3447+17T>C (n.3447+17T>C)
n.940+17T>C
c.3465+17T>C (n.3465+17T>C)
n.3838+17T>C
n.565+17T>C
c.2634+17T>C (n.2634+17T>C)
c.2409+17T>C (n.2409+17T>C)
c.3504+17T>C (n.3504+17T>C)
c.1477+17T>C
c.*800+17T>C (n.*800+17T>C)
n.4443+17T>C
n.3044+17T>C
c.3555+17T>C (n.3555+17T>C)
c.3603+17T>C (n.3603+17T>C)
c.3663+17T>C (n.3663+17T>C)
c.3213+17T>C (n.3213+17T>C)
c.1515+17T>C (n.1515+17T>C)
c.1332+17T>C (n.1332+17T>C)
c.3564+17T>C (n.3564+17T>C)
c.3516+17T>C (n.3516+17T>C)
c.3285+17T>C (n.3285+17T>C)
c.3186+17T>C (n.3186+17T>C)
c.2367+17T>C (n.2367+17T>C)
n.3918+17T>C
 gnomAD v4
13g.51939034A>TCA6988607ATP7Bc.*1349+17T>A (n.*1349+17T>A)
c.*2443+17T>A (n.*2443+17T>A)
c.3078+17T>A (n.3078+17T>A)
c.3699+17T>A (n.3699+17T>A)
c.3366+17T>A (n.3366+17T>A)
c.3447+17T>A (n.3447+17T>A)
n.940+17T>A
c.3465+17T>A (n.3465+17T>A)
n.3838+17T>A
n.565+17T>A
c.2634+17T>A (n.2634+17T>A)
c.2409+17T>A (n.2409+17T>A)
c.3504+17T>A (n.3504+17T>A)
c.1477+17T>A
c.*800+17T>A (n.*800+17T>A)
n.4443+17T>A
n.3044+17T>A
c.3555+17T>A (n.3555+17T>A)
c.3603+17T>A (n.3603+17T>A)
c.3663+17T>A (n.3663+17T>A)
c.3213+17T>A (n.3213+17T>A)
c.1515+17T>A (n.1515+17T>A)
c.1332+17T>A (n.1332+17T>A)
c.3564+17T>A (n.3564+17T>A)
c.3516+17T>A (n.3516+17T>A)
c.3285+17T>A (n.3285+17T>A)
c.3186+17T>A (n.3186+17T>A)
c.2367+17T>A (n.2367+17T>A)
n.3918+17T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51939035C=CA2091556533ATP7Bc.*1349+16G= (n.*1349+16G=)
c.*2443+16G= (n.*2443+16G=)
c.3078+16G= (n.3078+16G=)
c.3699+16G= (n.3699+16G=)
c.3366+16G= (n.3366+16G=)
c.3447+16G= (n.3447+16G=)
n.940+16G=
c.3465+16G= (n.3465+16G=)
n.3838+16G=
n.565+16G=
c.2634+16G= (n.2634+16G=)
c.2409+16G= (n.2409+16G=)
c.3504+16G= (n.3504+16G=)
c.1477+16G=
c.*800+16G= (n.*800+16G=)
n.4443+16G=
n.3044+16G=
c.3555+16G= (n.3555+16G=)
c.3603+16G= (n.3603+16G=)
c.3663+16G= (n.3663+16G=)
c.3213+16G= (n.3213+16G=)
c.1515+16G= (n.1515+16G=)
c.1332+16G= (n.1332+16G=)
c.3564+16G= (n.3564+16G=)
c.3516+16G= (n.3516+16G=)
c.3285+16G= (n.3285+16G=)
c.3186+16G= (n.3186+16G=)
c.2367+16G= (n.2367+16G=)
n.3918+16G=
13g.51939035C>TCA609963161ATP7Bc.*1349+16G>A (n.*1349+16G>A)
c.*2443+16G>A (n.*2443+16G>A)
c.3078+16G>A (n.3078+16G>A)
c.3699+16G>A (n.3699+16G>A)
c.3366+16G>A (n.3366+16G>A)
c.3447+16G>A (n.3447+16G>A)
n.940+16G>A
c.3465+16G>A (n.3465+16G>A)
n.3838+16G>A
n.565+16G>A
c.2634+16G>A (n.2634+16G>A)
c.2409+16G>A (n.2409+16G>A)
c.3504+16G>A (n.3504+16G>A)
c.1477+16G>A
c.*800+16G>A (n.*800+16G>A)
n.4443+16G>A
n.3044+16G>A
c.3555+16G>A (n.3555+16G>A)
c.3603+16G>A (n.3603+16G>A)
c.3663+16G>A (n.3663+16G>A)
c.3213+16G>A (n.3213+16G>A)
c.1515+16G>A (n.1515+16G>A)
c.1332+16G>A (n.1332+16G>A)
c.3564+16G>A (n.3564+16G>A)
c.3516+16G>A (n.3516+16G>A)
c.3285+16G>A (n.3285+16G>A)
c.3186+16G>A (n.3186+16G>A)
c.2367+16G>A (n.2367+16G>A)
n.3918+16G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51939036A>GCA2623119626ATP7Bc.*1349+15T>C (n.*1349+15T>C)
c.*2443+15T>C (n.*2443+15T>C)
c.3078+15T>C (n.3078+15T>C)
c.3699+15T>C (n.3699+15T>C)
c.3366+15T>C (n.3366+15T>C)
c.3447+15T>C (n.3447+15T>C)
n.940+15T>C
c.3465+15T>C (n.3465+15T>C)
n.3838+15T>C
n.565+15T>C
c.2634+15T>C (n.2634+15T>C)
c.2409+15T>C (n.2409+15T>C)
c.3504+15T>C (n.3504+15T>C)
c.1477+15T>C
c.*800+15T>C (n.*800+15T>C)
n.4443+15T>C
n.3044+15T>C
c.3555+15T>C (n.3555+15T>C)
c.3603+15T>C (n.3603+15T>C)
c.3663+15T>C (n.3663+15T>C)
c.3213+15T>C (n.3213+15T>C)
c.1515+15T>C (n.1515+15T>C)
c.1332+15T>C (n.1332+15T>C)
c.3564+15T>C (n.3564+15T>C)
c.3516+15T>C (n.3516+15T>C)
c.3285+15T>C (n.3285+15T>C)
c.3186+15T>C (n.3186+15T>C)
c.2367+15T>C (n.2367+15T>C)
n.3918+15T>C
 gnomAD v4
13g.51939037T>CCA956028225ATP7Bc.*1349+14A>G (n.*1349+14A>G)
c.*2443+14A>G (n.*2443+14A>G)
c.3078+14A>G (n.3078+14A>G)
c.3699+14A>G (n.3699+14A>G)
c.3366+14A>G (n.3366+14A>G)
c.3447+14A>G (n.3447+14A>G)
n.940+14A>G
c.3465+14A>G (n.3465+14A>G)
n.3838+14A>G
n.565+14A>G
c.2634+14A>G (n.2634+14A>G)
c.2409+14A>G (n.2409+14A>G)
c.3504+14A>G (n.3504+14A>G)
c.1477+14A>G
c.*800+14A>G (n.*800+14A>G)
n.4443+14A>G
n.3044+14A>G
c.3555+14A>G (n.3555+14A>G)
c.3603+14A>G (n.3603+14A>G)
c.3663+14A>G (n.3663+14A>G)
c.3213+14A>G (n.3213+14A>G)
c.1515+14A>G (n.1515+14A>G)
c.1332+14A>G (n.1332+14A>G)
c.3564+14A>G (n.3564+14A>G)
c.3516+14A>G (n.3516+14A>G)
c.3285+14A>G (n.3285+14A>G)
c.3186+14A>G (n.3186+14A>G)
c.2367+14A>G (n.2367+14A>G)
n.3918+14A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51939037T>GCA2739277678ATP7Bc.*1349+14A>C (n.*1349+14A>C)
c.*2443+14A>C (n.*2443+14A>C)
c.3078+14A>C (n.3078+14A>C)
c.3699+14A>C (n.3699+14A>C)
c.3366+14A>C (n.3366+14A>C)
c.3447+14A>C (n.3447+14A>C)
n.940+14A>C
c.3465+14A>C (n.3465+14A>C)
n.3838+14A>C
n.565+14A>C
c.2634+14A>C (n.2634+14A>C)
c.2409+14A>C (n.2409+14A>C)
c.3504+14A>C (n.3504+14A>C)
c.1477+14A>C
c.*800+14A>C (n.*800+14A>C)
n.4443+14A>C
n.3044+14A>C
c.3555+14A>C (n.3555+14A>C)
c.3603+14A>C (n.3603+14A>C)
c.3663+14A>C (n.3663+14A>C)
c.3213+14A>C (n.3213+14A>C)
c.1515+14A>C (n.1515+14A>C)
c.1332+14A>C (n.1332+14A>C)
c.3564+14A>C (n.3564+14A>C)
c.3516+14A>C (n.3516+14A>C)
c.3285+14A>C (n.3285+14A>C)
c.3186+14A>C (n.3186+14A>C)
c.2367+14A>C (n.2367+14A>C)
n.3918+14A>C
 ClinVar
13g.51939037T=CA2091556538ATP7Bc.*1349+14A= (n.*1349+14A=)
c.*2443+14A= (n.*2443+14A=)
c.3078+14A= (n.3078+14A=)
c.3699+14A= (n.3699+14A=)
c.3366+14A= (n.3366+14A=)
c.3447+14A= (n.3447+14A=)
n.940+14A=
c.3465+14A= (n.3465+14A=)
n.3838+14A=
n.565+14A=
c.2634+14A= (n.2634+14A=)
c.2409+14A= (n.2409+14A=)
c.3504+14A= (n.3504+14A=)
c.1477+14A=
c.*800+14A= (n.*800+14A=)
n.4443+14A=
n.3044+14A=
c.3555+14A= (n.3555+14A=)
c.3603+14A= (n.3603+14A=)
c.3663+14A= (n.3663+14A=)
c.3213+14A= (n.3213+14A=)
c.1515+14A= (n.1515+14A=)
c.1332+14A= (n.1332+14A=)
c.3564+14A= (n.3564+14A=)
c.3516+14A= (n.3516+14A=)
c.3285+14A= (n.3285+14A=)
c.3186+14A= (n.3186+14A=)
c.2367+14A= (n.2367+14A=)
n.3918+14A=
13g.51939039A>GCA2623119627ATP7Bc.*1349+12T>C (n.*1349+12T>C)
c.*2443+12T>C (n.*2443+12T>C)
c.3078+12T>C (n.3078+12T>C)
c.3699+12T>C (n.3699+12T>C)
c.3366+12T>C (n.3366+12T>C)
c.3447+12T>C (n.3447+12T>C)
n.940+12T>C
c.3465+12T>C (n.3465+12T>C)
n.3838+12T>C
n.565+12T>C
c.2634+12T>C (n.2634+12T>C)
c.2409+12T>C (n.2409+12T>C)
c.3504+12T>C (n.3504+12T>C)
c.1477+12T>C
c.*800+12T>C (n.*800+12T>C)
n.4443+12T>C
n.3044+12T>C
c.3555+12T>C (n.3555+12T>C)
c.3603+12T>C (n.3603+12T>C)
c.3663+12T>C (n.3663+12T>C)
c.3213+12T>C (n.3213+12T>C)
c.1515+12T>C (n.1515+12T>C)
c.1332+12T>C (n.1332+12T>C)
c.3564+12T>C (n.3564+12T>C)
c.3516+12T>C (n.3516+12T>C)
c.3285+12T>C (n.3285+12T>C)
c.3186+12T>C (n.3186+12T>C)
c.2367+12T>C (n.2367+12T>C)
n.3918+12T>C
 gnomAD v4
13g.51939042G>ACA915948579ATP7Bc.*1349+9C>T (n.*1349+9C>T)
c.*2443+9C>T (n.*2443+9C>T)
c.3078+9C>T (n.3078+9C>T)
c.3699+9C>T (n.3699+9C>T)
c.3366+9C>T (n.3366+9C>T)
c.3447+9C>T (n.3447+9C>T)
n.940+9C>T
c.3465+9C>T (n.3465+9C>T)
n.3838+9C>T
n.565+9C>T
c.2634+9C>T (n.2634+9C>T)
c.2409+9C>T (n.2409+9C>T)
c.3504+9C>T (n.3504+9C>T)
c.1477+9C>T
c.*800+9C>T (n.*800+9C>T)
n.4443+9C>T
n.3044+9C>T
c.3555+9C>T (n.3555+9C>T)
c.3603+9C>T (n.3603+9C>T)
c.3663+9C>T (n.3663+9C>T)
c.3213+9C>T (n.3213+9C>T)
c.1515+9C>T (n.1515+9C>T)
c.1332+9C>T (n.1332+9C>T)
c.3564+9C>T (n.3564+9C>T)
c.3516+9C>T (n.3516+9C>T)
c.3285+9C>T (n.3285+9C>T)
c.3186+9C>T (n.3186+9C>T)
c.2367+9C>T (n.2367+9C>T)
n.3918+9C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51939042G=CA2091556541ATP7Bc.*1349+9C= (n.*1349+9C=)
c.*2443+9C= (n.*2443+9C=)
c.3078+9C= (n.3078+9C=)
c.3699+9C= (n.3699+9C=)
c.3366+9C= (n.3366+9C=)
c.3447+9C= (n.3447+9C=)
n.940+9C=
c.3465+9C= (n.3465+9C=)
n.3838+9C=
n.565+9C=
c.2634+9C= (n.2634+9C=)
c.2409+9C= (n.2409+9C=)
c.3504+9C= (n.3504+9C=)
c.1477+9C=
c.*800+9C= (n.*800+9C=)
n.4443+9C=
n.3044+9C=
c.3555+9C= (n.3555+9C=)
c.3603+9C= (n.3603+9C=)
c.3663+9C= (n.3663+9C=)
c.3213+9C= (n.3213+9C=)
c.1515+9C= (n.1515+9C=)
c.1332+9C= (n.1332+9C=)
c.3564+9C= (n.3564+9C=)
c.3516+9C= (n.3516+9C=)
c.3285+9C= (n.3285+9C=)
c.3186+9C= (n.3186+9C=)
c.2367+9C= (n.2367+9C=)
n.3918+9C=
13g.51939043G>ACA250074963ATP7Bc.*1349+8C>T (n.*1349+8C>T)
c.*2443+8C>T (n.*2443+8C>T)
c.3078+8C>T (n.3078+8C>T)
c.3699+8C>T (n.3699+8C>T)
c.3366+8C>T (n.3366+8C>T)
c.3447+8C>T (n.3447+8C>T)
n.940+8C>T
c.3465+8C>T (n.3465+8C>T)
n.3838+8C>T
n.565+8C>T
c.2634+8C>T (n.2634+8C>T)
c.2409+8C>T (n.2409+8C>T)
c.3504+8C>T (n.3504+8C>T)
c.1477+8C>T
c.*800+8C>T (n.*800+8C>T)
n.4443+8C>T
n.3044+8C>T
c.3555+8C>T (n.3555+8C>T)
c.3603+8C>T (n.3603+8C>T)
c.3663+8C>T (n.3663+8C>T)
c.3213+8C>T (n.3213+8C>T)
c.1515+8C>T (n.1515+8C>T)
c.1332+8C>T (n.1332+8C>T)
c.3564+8C>T (n.3564+8C>T)
c.3516+8C>T (n.3516+8C>T)
c.3285+8C>T (n.3285+8C>T)
c.3186+8C>T (n.3186+8C>T)
c.2367+8C>T (n.2367+8C>T)
n.3918+8C>T
 dbSNP
13g.51939043G=CA2091556551ATP7Bc.*1349+8C= (n.*1349+8C=)
c.*2443+8C= (n.*2443+8C=)
c.3078+8C= (n.3078+8C=)
c.3699+8C= (n.3699+8C=)
c.3366+8C= (n.3366+8C=)
c.3447+8C= (n.3447+8C=)
n.940+8C=
c.3465+8C= (n.3465+8C=)
n.3838+8C=
n.565+8C=
c.2634+8C= (n.2634+8C=)
c.2409+8C= (n.2409+8C=)
c.3504+8C= (n.3504+8C=)
c.1477+8C=
c.*800+8C= (n.*800+8C=)
n.4443+8C=
n.3044+8C=
c.3555+8C= (n.3555+8C=)
c.3603+8C= (n.3603+8C=)
c.3663+8C= (n.3663+8C=)
c.3213+8C= (n.3213+8C=)
c.1515+8C= (n.1515+8C=)
c.1332+8C= (n.1332+8C=)
c.3564+8C= (n.3564+8C=)
c.3516+8C= (n.3516+8C=)
c.3285+8C= (n.3285+8C=)
c.3186+8C= (n.3186+8C=)
c.2367+8C= (n.2367+8C=)
n.3918+8C=
13g.51939048T>CCA609963162ATP7Bc.*1349+3A>G (n.*1349+3A>G)
c.*2443+3A>G (n.*2443+3A>G)
c.3078+3A>G (n.3078+3A>G)
c.3699+3A>G (n.3699+3A>G)
c.3366+3A>G (n.3366+3A>G)
c.3447+3A>G (n.3447+3A>G)
n.940+3A>G
c.3465+3A>G (n.3465+3A>G)
n.3838+3A>G
n.565+3A>G
c.2634+3A>G (n.2634+3A>G)
c.2409+3A>G (n.2409+3A>G)
c.3504+3A>G (n.3504+3A>G)
c.1477+3A>G
c.*800+3A>G (n.*800+3A>G)
n.4443+3A>G
n.3044+3A>G
c.3555+3A>G (n.3555+3A>G)
c.3603+3A>G (n.3603+3A>G)
c.3663+3A>G (n.3663+3A>G)
c.3213+3A>G (n.3213+3A>G)
c.1515+3A>G (n.1515+3A>G)
c.1332+3A>G (n.1332+3A>G)
c.3564+3A>G (n.3564+3A>G)
c.3516+3A>G (n.3516+3A>G)
c.3285+3A>G (n.3285+3A>G)
c.3186+3A>G (n.3186+3A>G)
c.2367+3A>G (n.2367+3A>G)
n.3918+3A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51939048T=CA2091556559ATP7Bc.*1349+3A= (n.*1349+3A=)
c.*2443+3A= (n.*2443+3A=)
c.3078+3A= (n.3078+3A=)
c.3699+3A= (n.3699+3A=)
c.3366+3A= (n.3366+3A=)
c.3447+3A= (n.3447+3A=)
n.940+3A=
c.3465+3A= (n.3465+3A=)
n.3838+3A=
n.565+3A=
c.2634+3A= (n.2634+3A=)
c.2409+3A= (n.2409+3A=)
c.3504+3A= (n.3504+3A=)
c.1477+3A=
c.*800+3A= (n.*800+3A=)
n.4443+3A=
n.3044+3A=
c.3555+3A= (n.3555+3A=)
c.3603+3A= (n.3603+3A=)
c.3663+3A= (n.3663+3A=)
c.3213+3A= (n.3213+3A=)
c.1515+3A= (n.1515+3A=)
c.1332+3A= (n.1332+3A=)
c.3564+3A= (n.3564+3A=)
c.3516+3A= (n.3516+3A=)
c.3285+3A= (n.3285+3A=)
c.3186+3A= (n.3186+3A=)
c.2367+3A= (n.2367+3A=)
n.3918+3A=
13g.51939049A=CA2091556567ATP7Bc.*1349+2T= (n.*1349+2T=)
c.*2443+2T= (n.*2443+2T=)
c.3078+2T= (n.3078+2T=)
c.3699+2T= (n.3699+2T=)
c.3366+2T= (n.3366+2T=)
c.3447+2T= (n.3447+2T=)
n.940+2T=
c.3465+2T= (n.3465+2T=)
n.3838+2T=
n.565+2T=
c.2634+2T= (n.2634+2T=)
c.2409+2T= (n.2409+2T=)
c.3504+2T= (n.3504+2T=)
c.1477+2T=
c.*800+2T= (n.*800+2T=)
n.4443+2T=
n.3044+2T=
c.3555+2T= (n.3555+2T=)
c.3603+2T= (n.3603+2T=)
c.3663+2T= (n.3663+2T=)
c.3213+2T= (n.3213+2T=)
c.1515+2T= (n.1515+2T=)
c.1332+2T= (n.1332+2T=)
c.3564+2T= (n.3564+2T=)
c.3516+2T= (n.3516+2T=)
c.3285+2T= (n.3285+2T=)
c.3186+2T= (n.3186+2T=)
c.2367+2T= (n.2367+2T=)
n.3918+2T=
13g.51939049A>CCA388023504ATP7Bc.*1349+2T>G (n.*1349+2T>G)
c.*2443+2T>G (n.*2443+2T>G)
c.3078+2T>G (n.3078+2T>G)
c.3699+2T>G (n.3699+2T>G)
c.3366+2T>G (n.3366+2T>G)
c.3447+2T>G (n.3447+2T>G)
n.940+2T>G
c.3465+2T>G (n.3465+2T>G)
n.3838+2T>G
n.565+2T>G
c.2634+2T>G (n.2634+2T>G)
c.2409+2T>G (n.2409+2T>G)
c.3504+2T>G (n.3504+2T>G)
c.1477+2T>G
c.*800+2T>G (n.*800+2T>G)
n.4443+2T>G
n.3044+2T>G
c.3555+2T>G (n.3555+2T>G)
c.3603+2T>G (n.3603+2T>G)
c.3663+2T>G (n.3663+2T>G)
c.3213+2T>G (n.3213+2T>G)
c.1515+2T>G (n.1515+2T>G)
c.1332+2T>G (n.1332+2T>G)
c.3564+2T>G (n.3564+2T>G)
c.3516+2T>G (n.3516+2T>G)
c.3285+2T>G (n.3285+2T>G)
c.3186+2T>G (n.3186+2T>G)
c.2367+2T>G (n.2367+2T>G)
n.3918+2T>G
13g.51939049A>GCA388023505ATP7Bc.*1349+2T>C (n.*1349+2T>C)
c.*2443+2T>C (n.*2443+2T>C)
c.3078+2T>C (n.3078+2T>C)
c.3699+2T>C (n.3699+2T>C)
c.3366+2T>C (n.3366+2T>C)
c.3447+2T>C (n.3447+2T>C)
n.940+2T>C
c.3465+2T>C (n.3465+2T>C)
n.3838+2T>C
n.565+2T>C
c.2634+2T>C (n.2634+2T>C)
c.2409+2T>C (n.2409+2T>C)
c.3504+2T>C (n.3504+2T>C)
c.1477+2T>C
c.*800+2T>C (n.*800+2T>C)
n.4443+2T>C
n.3044+2T>C
c.3555+2T>C (n.3555+2T>C)
c.3603+2T>C (n.3603+2T>C)
c.3663+2T>C (n.3663+2T>C)
c.3213+2T>C (n.3213+2T>C)
c.1515+2T>C (n.1515+2T>C)
c.1332+2T>C (n.1332+2T>C)
c.3564+2T>C (n.3564+2T>C)
c.3516+2T>C (n.3516+2T>C)
c.3285+2T>C (n.3285+2T>C)
c.3186+2T>C (n.3186+2T>C)
c.2367+2T>C (n.2367+2T>C)
n.3918+2T>C
 ClinVar dbSNP gnomAD v2
13g.51939049A>TCA388023506ATP7Bc.*1349+2T>A (n.*1349+2T>A)
c.*2443+2T>A (n.*2443+2T>A)
c.3078+2T>A (n.3078+2T>A)
c.3699+2T>A (n.3699+2T>A)
c.3366+2T>A (n.3366+2T>A)
c.3447+2T>A (n.3447+2T>A)
n.940+2T>A
c.3465+2T>A (n.3465+2T>A)
n.3838+2T>A
n.565+2T>A
c.2634+2T>A (n.2634+2T>A)
c.2409+2T>A (n.2409+2T>A)
c.3504+2T>A (n.3504+2T>A)
c.1477+2T>A
c.*800+2T>A (n.*800+2T>A)
n.4443+2T>A
n.3044+2T>A
c.3555+2T>A (n.3555+2T>A)
c.3603+2T>A (n.3603+2T>A)
c.3663+2T>A (n.3663+2T>A)
c.3213+2T>A (n.3213+2T>A)
c.1515+2T>A (n.1515+2T>A)
c.1332+2T>A (n.1332+2T>A)
c.3564+2T>A (n.3564+2T>A)
c.3516+2T>A (n.3516+2T>A)
c.3285+2T>A (n.3285+2T>A)
c.3186+2T>A (n.3186+2T>A)
c.2367+2T>A (n.2367+2T>A)
n.3918+2T>A
13g.51939050C>ACA388023511ATP7Bc.*1349+1G>T (n.*1349+1G>T)
c.*2443+1G>T (n.*2443+1G>T)
c.3078+1G>T (n.3078+1G>T)
c.3699+1G>T (n.3699+1G>T)
c.3366+1G>T (n.3366+1G>T)
c.3447+1G>T (n.3447+1G>T)
n.940+1G>T
c.3465+1G>T (n.3465+1G>T)
n.3838+1G>T
n.565+1G>T
c.2634+1G>T (n.2634+1G>T)
c.2409+1G>T (n.2409+1G>T)
c.3504+1G>T (n.3504+1G>T)
c.1477+1G>T
c.*800+1G>T (n.*800+1G>T)
n.4443+1G>T
n.3044+1G>T
c.3555+1G>T (n.3555+1G>T)
c.3603+1G>T (n.3603+1G>T)
c.3663+1G>T (n.3663+1G>T)
c.3213+1G>T (n.3213+1G>T)
c.1515+1G>T (n.1515+1G>T)
c.1332+1G>T (n.1332+1G>T)
c.3564+1G>T (n.3564+1G>T)
c.3516+1G>T (n.3516+1G>T)
c.3285+1G>T (n.3285+1G>T)
c.3186+1G>T (n.3186+1G>T)
c.2367+1G>T (n.2367+1G>T)
n.3918+1G>T
13g.51939050C>GCA388023509ATP7Bc.*1349+1G>C (n.*1349+1G>C)
c.*2443+1G>C (n.*2443+1G>C)
c.3078+1G>C (n.3078+1G>C)
c.3699+1G>C (n.3699+1G>C)
c.3366+1G>C (n.3366+1G>C)
c.3447+1G>C (n.3447+1G>C)
n.940+1G>C
c.3465+1G>C (n.3465+1G>C)
n.3838+1G>C
n.565+1G>C
c.2634+1G>C (n.2634+1G>C)
c.2409+1G>C (n.2409+1G>C)
c.3504+1G>C (n.3504+1G>C)
c.1477+1G>C
c.*800+1G>C (n.*800+1G>C)
n.4443+1G>C
n.3044+1G>C
c.3555+1G>C (n.3555+1G>C)
c.3603+1G>C (n.3603+1G>C)
c.3663+1G>C (n.3663+1G>C)
c.3213+1G>C (n.3213+1G>C)
c.1515+1G>C (n.1515+1G>C)
c.1332+1G>C (n.1332+1G>C)
c.3564+1G>C (n.3564+1G>C)
c.3516+1G>C (n.3516+1G>C)
c.3285+1G>C (n.3285+1G>C)
c.3186+1G>C (n.3186+1G>C)
c.2367+1G>C (n.2367+1G>C)
n.3918+1G>C
13g.51939050C>TCA388023507ATP7Bc.*1349+1G>A (n.*1349+1G>A)
c.*2443+1G>A (n.*2443+1G>A)
c.3078+1G>A (n.3078+1G>A)
c.3699+1G>A (n.3699+1G>A)
c.3366+1G>A (n.3366+1G>A)
c.3447+1G>A (n.3447+1G>A)
n.940+1G>A
c.3465+1G>A (n.3465+1G>A)
n.3838+1G>A
n.565+1G>A
c.2634+1G>A (n.2634+1G>A)
c.2409+1G>A (n.2409+1G>A)
c.3504+1G>A (n.3504+1G>A)
c.1477+1G>A
c.*800+1G>A (n.*800+1G>A)
n.4443+1G>A
n.3044+1G>A
c.3555+1G>A (n.3555+1G>A)
c.3603+1G>A (n.3603+1G>A)
c.3663+1G>A (n.3663+1G>A)
c.3213+1G>A (n.3213+1G>A)
c.1515+1G>A (n.1515+1G>A)
c.1332+1G>A (n.1332+1G>A)
c.3564+1G>A (n.3564+1G>A)
c.3516+1G>A (n.3516+1G>A)
c.3285+1G>A (n.3285+1G>A)
c.3186+1G>A (n.3186+1G>A)
c.2367+1G>A (n.2367+1G>A)
n.3918+1G>A
 gnomAD v4
13g.51939051C>ACA388023515ATP7Bc.*1349G>T (n.*1349G>T)
c.*2443G>T (n.*2443G>T)
c.3078G>T (p.Gln1026His)
c.3699G>T (p.Gln1233His)
c.3366G>T (p.Gln1122His)
c.3447G>T (p.Gln1149His)
n.940G>T
c.3465G>T (p.Gln1155His)
n.3838G>T
n.565G>T
c.2634G>T (p.Gln878His)
c.2409G>T (p.Gln803His)
c.3504G>T (p.Gln1168His)
c.1477G>T
c.*800G>T (n.*800G>T)
n.4443G>T
n.3044G>T
c.3555G>T (p.Gln1185His)
c.3603G>T (p.Gln1201His)
c.3663G>T (p.Gln1221His)
c.3213G>T (p.Gln1071His)
c.1515G>T (p.Gln505His)
c.1332G>T (p.Gln444His)
c.3564G>T (p.Gln1188His)
c.3516G>T (p.Gln1172His)
c.3285G>T (p.Gln1095His)
c.3186G>T (p.Gln1062His)
c.2367G>T (p.Gln789His)
n.3918G>T
13g.51939051C>GCA388023512ATP7Bc.*1349G>C (n.*1349G>C)
c.*2443G>C (n.*2443G>C)
c.3078G>C (p.Gln1026His)
c.3699G>C (p.Gln1233His)
c.3366G>C (p.Gln1122His)
c.3447G>C (p.Gln1149His)
n.940G>C
c.3465G>C (p.Gln1155His)
n.3838G>C
n.565G>C
c.2634G>C (p.Gln878His)
c.2409G>C (p.Gln803His)
c.3504G>C (p.Gln1168His)
c.1477G>C
c.*800G>C (n.*800G>C)
n.4443G>C
n.3044G>C
c.3555G>C (p.Gln1185His)
c.3603G>C (p.Gln1201His)
c.3663G>C (p.Gln1221His)
c.3213G>C (p.Gln1071His)
c.1515G>C (p.Gln505His)
c.1332G>C (p.Gln444His)
c.3564G>C (p.Gln1188His)
c.3516G>C (p.Gln1172His)
c.3285G>C (p.Gln1095His)
c.3186G>C (p.Gln1062His)
c.2367G>C (p.Gln789His)
n.3918G>C
13g.51939051C>TCA483893561ATP7Bc.*1349G>A (n.*1349G>A)
c.*2443G>A (n.*2443G>A)
c.3078G>A (p.Gln1026=)
c.3699G>A (p.Gln1233=)
c.3366G>A (p.Gln1122=)
c.3447G>A (p.Gln1149=)
n.940G>A
c.3465G>A (p.Gln1155=)
n.3838G>A
n.565G>A
c.2634G>A (p.Gln878=)
c.2409G>A (p.Gln803=)
c.3504G>A (p.Gln1168=)
c.1477G>A
c.*800G>A (n.*800G>A)
n.4443G>A
n.3044G>A
c.3555G>A (p.Gln1185=)
c.3603G>A (p.Gln1201=)
c.3663G>A (p.Gln1221=)
c.3213G>A (p.Gln1071=)
c.1515G>A (p.Gln505=)
c.1332G>A (p.Gln444=)
c.3564G>A (p.Gln1188=)
c.3516G>A (p.Gln1172=)
c.3285G>A (p.Gln1095=)
c.3186G>A (p.Gln1062=)
c.2367G>A (p.Gln789=)
n.3918G>A
13g.51939052T>ACA388023525ATP7Bc.*1348A>T (n.*1348A>T)
c.*2442A>T (n.*2442A>T)
c.3077A>T (p.Gln1026Leu)
c.3698A>T (p.Gln1233Leu)
c.3365A>T (p.Gln1122Leu)
c.3446A>T (p.Gln1149Leu)
n.939A>T
c.3464A>T (p.Gln1155Leu)
n.3837A>T
n.564A>T
c.2633A>T (p.Gln878Leu)
c.2408A>T (p.Gln803Leu)
c.3503A>T (p.Gln1168Leu)
c.1476A>T
c.*799A>T (n.*799A>T)
n.4442A>T
n.3043A>T
c.3554A>T (p.Gln1185Leu)
c.3602A>T (p.Gln1201Leu)
c.3662A>T (p.Gln1221Leu)
c.3212A>T (p.Gln1071Leu)
c.1514A>T (p.Gln505Leu)
c.1331A>T (p.Gln444Leu)
c.3563A>T (p.Gln1188Leu)
c.3515A>T (p.Gln1172Leu)
c.3284A>T (p.Gln1095Leu)
c.3185A>T (p.Gln1062Leu)
c.2366A>T (p.Gln789Leu)
n.3917A>T
13g.51939052T>CCA388023518ATP7Bc.*1348A>G (n.*1348A>G)
c.*2442A>G (n.*2442A>G)
c.3077A>G (p.Gln1026Arg)
c.3698A>G (p.Gln1233Arg)
c.3365A>G (p.Gln1122Arg)
c.3446A>G (p.Gln1149Arg)
n.939A>G
c.3464A>G (p.Gln1155Arg)
n.3837A>G
n.564A>G
c.2633A>G (p.Gln878Arg)
c.2408A>G (p.Gln803Arg)
c.3503A>G (p.Gln1168Arg)
c.1476A>G
c.*799A>G (n.*799A>G)
n.4442A>G
n.3043A>G
c.3554A>G (p.Gln1185Arg)
c.3602A>G (p.Gln1201Arg)
c.3662A>G (p.Gln1221Arg)
c.3212A>G (p.Gln1071Arg)
c.1514A>G (p.Gln505Arg)
c.1331A>G (p.Gln444Arg)
c.3563A>G (p.Gln1188Arg)
c.3515A>G (p.Gln1172Arg)
c.3284A>G (p.Gln1095Arg)
c.3185A>G (p.Gln1062Arg)
c.2366A>G (p.Gln789Arg)
n.3917A>G
 dbSNP
13g.51939052T>GCA388023523ATP7Bc.*1348A>C (n.*1348A>C)
c.*2442A>C (n.*2442A>C)
c.3077A>C (p.Gln1026Pro)
c.3698A>C (p.Gln1233Pro)
c.3365A>C (p.Gln1122Pro)
c.3446A>C (p.Gln1149Pro)
n.939A>C
c.3464A>C (p.Gln1155Pro)
n.3837A>C
n.564A>C
c.2633A>C (p.Gln878Pro)
c.2408A>C (p.Gln803Pro)
c.3503A>C (p.Gln1168Pro)
c.1476A>C
c.*799A>C (n.*799A>C)
n.4442A>C
n.3043A>C
c.3554A>C (p.Gln1185Pro)
c.3602A>C (p.Gln1201Pro)
c.3662A>C (p.Gln1221Pro)
c.3212A>C (p.Gln1071Pro)
c.1514A>C (p.Gln505Pro)
c.1331A>C (p.Gln444Pro)
c.3563A>C (p.Gln1188Pro)
c.3515A>C (p.Gln1172Pro)
c.3284A>C (p.Gln1095Pro)
c.3185A>C (p.Gln1062Pro)
c.2366A>C (p.Gln789Pro)
n.3917A>C
13g.51939052T=CA2091556572ATP7Bc.*1348A= (n.*1348A=)
c.*2442A= (n.*2442A=)
c.3077A= (p.Gln1026=)
c.3698A= (p.Gln1233=)
c.3365A= (p.Gln1122=)
c.3446A= (p.Gln1149=)
n.939A=
c.3464A= (p.Gln1155=)
n.3837A=
n.564A=
c.2633A= (p.Gln878=)
c.2408A= (p.Gln803=)
c.3503A= (p.Gln1168=)
c.1476A=
c.*799A= (n.*799A=)
n.4442A=
n.3043A=
c.3554A= (p.Gln1185=)
c.3602A= (p.Gln1201=)
c.3662A= (p.Gln1221=)
c.3212A= (p.Gln1071=)
c.1514A= (p.Gln505=)
c.1331A= (p.Gln444=)
c.3563A= (p.Gln1188=)
c.3515A= (p.Gln1172=)
c.3284A= (p.Gln1095=)
c.3185A= (p.Gln1062=)
c.2366A= (p.Gln789=)
n.3917A=
13g.51939052_51939053insTTAATCA2546731101ATP7Bc.*1348_*1349insTTAAA (n.*1348_*1349insTTAAA)
c.*2442_*2443insTTAAA (n.*2442_*2443insTTAAA)
c.3077_3078insTTAAA (p.Gln1026HisfsTer2)
c.3698_3699insTTAAA (p.Gln1233HisfsTer2)
c.3365_3366insTTAAA (p.Gln1122HisfsTer2)
c.3446_3447insTTAAA (p.Gln1149HisfsTer2)
n.939_940insTTAAA
c.3464_3465insTTAAA (p.Gln1155HisfsTer2)
n.3837_3838insTTAAA
n.564_565insTTAAA
c.2633_2634insTTAAA (p.Gln878HisfsTer2)
c.2408_2409insTTAAA (p.Gln803HisfsTer2)
c.3503_3504insTTAAA (p.Gln1168HisfsTer2)
c.1476_1477insTTAAA
c.*799_*800insTTAAA (n.*799_*800insTTAAA)
n.4442_4443insTTAAA
n.3043_3044insTTAAA
c.3554_3555insTTAAA (p.Gln1185HisfsTer2)
c.3602_3603insTTAAA (p.Gln1201HisfsTer2)
c.3662_3663insTTAAA (p.Gln1221HisfsTer2)
c.3212_3213insTTAAA (p.Gln1071HisfsTer2)
c.1514_1515insTTAAA (p.Gln505HisfsTer2)
c.1331_1332insTTAAA (p.Gln444HisfsTer2)
c.3563_3564insTTAAA (p.Gln1188HisfsTer2)
c.3515_3516insTTAAA (p.Gln1172HisfsTer2)
c.3284_3285insTTAAA (p.Gln1095HisfsTer2)
c.3185_3186insTTAAA (p.Gln1062HisfsTer2)
c.2366_2367insTTAAA (p.Gln789HisfsTer2)
n.3917_3918insTTAAA
 gnomAD v4
13g.51939052_51939055delinsTGGGCA2091556574ATP7Bc.*1345_*1348delinsCCCA (n.*1345_*1348delinsCCCA)
c.*2439_*2442delinsCCCA (n.*2439_*2442delinsCCCA)
c.3074_3077delinsCCCA (p.Thr1025=)
c.3695_3698delinsCCCA (p.Thr1232=)
c.3362_3365delinsCCCA (p.Thr1121=)
c.3443_3446delinsCCCA (p.Thr1148=)
n.936_939delinsCCCA
c.3461_3464delinsCCCA (p.Thr1154=)
n.3834_3837delinsCCCA
n.561_564delinsCCCA
c.2630_2633delinsCCCA (p.Thr877=)
c.2405_2408delinsCCCA (p.Thr802=)
c.3500_3503delinsCCCA (p.Thr1167=)
c.1473_1476delinsCCCA
c.*796_*799delinsCCCA (n.*796_*799delinsCCCA)
n.4439_4442delinsCCCA
n.3040_3043delinsCCCA
c.3551_3554delinsCCCA (p.Thr1184=)
c.3599_3602delinsCCCA (p.Thr1200=)
c.3659_3662delinsCCCA (p.Thr1220=)
c.3209_3212delinsCCCA (p.Thr1070=)
c.1511_1514delinsCCCA (p.Thr504=)
c.1328_1331delinsCCCA (p.Thr443=)
c.3560_3563delinsCCCA (p.Thr1187=)
c.3512_3515delinsCCCA (p.Thr1171=)
c.3281_3284delinsCCCA (p.Thr1094=)
c.3182_3185delinsCCCA (p.Thr1061=)
c.2363_2366delinsCCCA (p.Thr788=)
n.3914_3917delinsCCCA
13g.51939052_51939057delinsTGGGTGCA2091556577ATP7Bc.*1343_*1348delinsCACCCA (n.*1343_*1348delinsCACCCA)
c.*2437_*2442delinsCACCCA (n.*2437_*2442delinsCACCCA)
c.3072_3077delinsCACCCA (p.Ala1024=)
c.3693_3698delinsCACCCA (p.Ala1231=)
c.3360_3365delinsCACCCA (p.Ala1120=)
c.3441_3446delinsCACCCA (p.Ala1147=)
n.934_939delinsCACCCA
c.3459_3464delinsCACCCA (p.Ala1153=)
n.3832_3837delinsCACCCA
n.559_564delinsCACCCA
c.2628_2633delinsCACCCA (p.Ala876=)
c.2403_2408delinsCACCCA (p.Ala801=)
c.3498_3503delinsCACCCA (p.Ala1166=)
c.1471_1476delinsCACCCA
c.*794_*799delinsCACCCA (n.*794_*799delinsCACCCA)
n.4437_4442delinsCACCCA
n.3038_3043delinsCACCCA
c.3549_3554delinsCACCCA (p.Ala1183=)
c.3597_3602delinsCACCCA (p.Ala1199=)
c.3657_3662delinsCACCCA (p.Ala1219=)
c.3207_3212delinsCACCCA (p.Ala1069=)
c.1509_1514delinsCACCCA (p.Ala503=)
c.1326_1331delinsCACCCA (p.Ala442=)
c.3558_3563delinsCACCCA (p.Ala1186=)
c.3510_3515delinsCACCCA (p.Ala1170=)
c.3279_3284delinsCACCCA (p.Ala1093=)
c.3180_3185delinsCACCCA (p.Ala1060=)
c.2361_2366delinsCACCCA (p.Ala787=)
n.3912_3917delinsCACCCA
13g.51939053G>ACA388023527ATP7Bc.*1347C>T (n.*1347C>T)
c.*2441C>T (n.*2441C>T)
c.3076C>T (p.Gln1026Ter)
c.3697C>T (p.Gln1233Ter)
c.3364C>T (p.Gln1122Ter)
c.3445C>T (p.Gln1149Ter)
n.938C>T
c.3463C>T (p.Gln1155Ter)
n.3836C>T
n.563C>T
c.2632C>T (p.Gln878Ter)
c.2407C>T (p.Gln803Ter)
c.3502C>T (p.Gln1168Ter)
c.1475C>T
c.*798C>T (n.*798C>T)
n.4441C>T
n.3042C>T
c.3553C>T (p.Gln1185Ter)
c.3601C>T (p.Gln1201Ter)
c.3661C>T (p.Gln1221Ter)
c.3211C>T (p.Gln1071Ter)
c.1513C>T (p.Gln505Ter)
c.1330C>T (p.Gln444Ter)
c.3562C>T (p.Gln1188Ter)
c.3514C>T (p.Gln1172Ter)
c.3283C>T (p.Gln1095Ter)
c.3184C>T (p.Gln1062Ter)
c.2365C>T (p.Gln789Ter)
n.3916C>T
13g.51939053G>CCA388023531ATP7Bc.*1347C>G (n.*1347C>G)
c.*2441C>G (n.*2441C>G)
c.3076C>G (p.Gln1026Glu)
c.3697C>G (p.Gln1233Glu)
c.3364C>G (p.Gln1122Glu)
c.3445C>G (p.Gln1149Glu)
n.938C>G
c.3463C>G (p.Gln1155Glu)
n.3836C>G
n.563C>G
c.2632C>G (p.Gln878Glu)
c.2407C>G (p.Gln803Glu)
c.3502C>G (p.Gln1168Glu)
c.1475C>G
c.*798C>G (n.*798C>G)
n.4441C>G
n.3042C>G
c.3553C>G (p.Gln1185Glu)
c.3601C>G (p.Gln1201Glu)
c.3661C>G (p.Gln1221Glu)
c.3211C>G (p.Gln1071Glu)
c.1513C>G (p.Gln505Glu)
c.1330C>G (p.Gln444Glu)
c.3562C>G (p.Gln1188Glu)
c.3514C>G (p.Gln1172Glu)
c.3283C>G (p.Gln1095Glu)
c.3184C>G (p.Gln1062Glu)
c.2365C>G (p.Gln789Glu)
n.3916C>G
13g.51939053G>TCA388023533ATP7Bc.*1347C>A (n.*1347C>A)
c.*2441C>A (n.*2441C>A)
c.3076C>A (p.Gln1026Lys)
c.3697C>A (p.Gln1233Lys)
c.3364C>A (p.Gln1122Lys)
c.3445C>A (p.Gln1149Lys)
n.938C>A
c.3463C>A (p.Gln1155Lys)
n.3836C>A
n.563C>A
c.2632C>A (p.Gln878Lys)
c.2407C>A (p.Gln803Lys)
c.3502C>A (p.Gln1168Lys)
c.1475C>A
c.*798C>A (n.*798C>A)
n.4441C>A
n.3042C>A
c.3553C>A (p.Gln1185Lys)
c.3601C>A (p.Gln1201Lys)
c.3661C>A (p.Gln1221Lys)
c.3211C>A (p.Gln1071Lys)
c.1513C>A (p.Gln505Lys)
c.1330C>A (p.Gln444Lys)
c.3562C>A (p.Gln1188Lys)
c.3514C>A (p.Gln1172Lys)
c.3283C>A (p.Gln1095Lys)
c.3184C>A (p.Gln1062Lys)
c.2365C>A (p.Gln789Lys)
n.3916C>A
13g.51939053_51939055delCA1139663300ATP7Bc.*1345_*1347del (n.*1345_*1347del)
c.*2439_*2441del (n.*2439_*2441del)
c.3074_3076del (p.Thr1025_Gln1026delinsLys)
c.3695_3697del (p.Thr1232_Gln1233delinsLys)
c.3362_3364del (p.Thr1121_Gln1122delinsLys)
c.3443_3445del (p.Thr1148_Gln1149delinsLys)
n.936_938del
c.3461_3463del (p.Thr1154_Gln1155delinsLys)
n.3834_3836del
n.561_563del
c.2630_2632del (p.Thr877_Gln878delinsLys)
c.2405_2407del (p.Thr802_Gln803delinsLys)
c.3500_3502del (p.Thr1167_Gln1168delinsLys)
c.1473_1475del
c.*796_*798del (n.*796_*798del)
n.4439_4441del
n.3040_3042del
c.3551_3553del (p.Thr1184_Gln1185delinsLys)
c.3599_3601del (p.Thr1200_Gln1201delinsLys)
c.3659_3661del (p.Thr1220_Gln1221delinsLys)
c.3209_3211del (p.Thr1070_Gln1071delinsLys)
c.1511_1513del (p.Thr504_Gln505delinsLys)
c.1328_1330del (p.Thr443_Gln444delinsLys)
c.3560_3562del (p.Thr1187_Gln1188delinsLys)
c.3512_3514del (p.Thr1171_Gln1172delinsLys)
c.3281_3283del (p.Thr1094_Gln1095delinsLys)
c.3182_3184del (p.Thr1061_Gln1062delinsLys)
c.2363_2365del (p.Thr788_Gln789delinsLys)
n.3914_3916del
 ClinVar dbSNP
13g.51939053_51939057delinsTTAATGTTAATGTACCAGACA1139663301ATP7Bc.*1343_*1347delinsTCTGGTACATTAACATTAA (n.*1343_*1347delinsTCTGGTACATTAACATTAA)
c.*2437_*2441delinsTCTGGTACATTAACATTAA (n.*2437_*2441delinsTCTGGTACATTAACATTAA)
c.3072_3076delinsTCTGGTACATTAACATTAA (p.Thr1025LeufsTer4)
c.3693_3697delinsTCTGGTACATTAACATTAA (p.Thr1232LeufsTer4)
c.3360_3364delinsTCTGGTACATTAACATTAA (p.Thr1121LeufsTer4)
c.3441_3445delinsTCTGGTACATTAACATTAA (p.Thr1148LeufsTer4)
n.934_938delinsTCTGGTACATTAACATTAA
c.3459_3463delinsTCTGGTACATTAACATTAA (p.Thr1154LeufsTer4)
n.3832_3836delinsTCTGGTACATTAACATTAA
n.559_563delinsTCTGGTACATTAACATTAA
c.2628_2632delinsTCTGGTACATTAACATTAA (p.Thr877LeufsTer4)
c.2403_2407delinsTCTGGTACATTAACATTAA (p.Thr802LeufsTer4)
c.3498_3502delinsTCTGGTACATTAACATTAA (p.Thr1167LeufsTer4)
c.1471_1475delinsTCTGGTACATTAACATTAA
c.*794_*798delinsTCTGGTACATTAACATTAA (n.*794_*798delinsTCTGGTACATTAACATTAA)
n.4437_4441delinsTCTGGTACATTAACATTAA
n.3038_3042delinsTCTGGTACATTAACATTAA
c.3549_3553delinsTCTGGTACATTAACATTAA (p.Thr1184LeufsTer4)
c.3597_3601delinsTCTGGTACATTAACATTAA (p.Thr1200LeufsTer4)
c.3657_3661delinsTCTGGTACATTAACATTAA (p.Thr1220LeufsTer4)
c.3207_3211delinsTCTGGTACATTAACATTAA (p.Thr1070LeufsTer4)
c.1509_1513delinsTCTGGTACATTAACATTAA (p.Thr504LeufsTer4)
c.1326_1330delinsTCTGGTACATTAACATTAA (p.Thr443LeufsTer4)
c.3558_3562delinsTCTGGTACATTAACATTAA (p.Thr1187LeufsTer4)
c.3510_3514delinsTCTGGTACATTAACATTAA (p.Thr1171LeufsTer4)
c.3279_3283delinsTCTGGTACATTAACATTAA (p.Thr1094LeufsTer4)
c.3180_3184delinsTCTGGTACATTAACATTAA (p.Thr1061LeufsTer4)
c.2361_2365delinsTCTGGTACATTAACATTAA (p.Thr788LeufsTer4)
n.3912_3916delinsTCTGGTACATTAACATTAA
 ClinVar dbSNP
13g.51939053_51939054insTTAACA2566176302ATP7Bc.*1346_*1347insTTAA (n.*1346_*1347insTTAA)
c.*2440_*2441insTTAA (n.*2440_*2441insTTAA)
c.3075_3076insTTAA (p.Gln1026LeufsTer27)
c.3696_3697insTTAA (p.Gln1233LeufsTer27)
c.3363_3364insTTAA (p.Gln1122LeufsTer27)
c.3444_3445insTTAA (p.Gln1149LeufsTer27)
n.937_938insTTAA
c.3462_3463insTTAA (p.Gln1155LeufsTer27)
n.3835_3836insTTAA
n.562_563insTTAA
c.2631_2632insTTAA (p.Gln878LeufsTer27)
c.2406_2407insTTAA (p.Gln803LeufsTer27)
c.3501_3502insTTAA (p.Gln1168LeufsTer27)
c.1474_1475insTTAA
c.*797_*798insTTAA (n.*797_*798insTTAA)
n.4440_4441insTTAA
n.3041_3042insTTAA
c.3552_3553insTTAA (p.Gln1185LeufsTer27)
c.3600_3601insTTAA (p.Gln1201LeufsTer27)
c.3660_3661insTTAA (p.Gln1221LeufsTer27)
c.3210_3211insTTAA (p.Gln1071LeufsTer27)
c.1512_1513insTTAA (p.Gln505LeufsTer27)
c.1329_1330insTTAA (p.Gln444LeufsTer27)
c.3561_3562insTTAA (p.Gln1188LeufsTer27)
c.3513_3514insTTAA (p.Gln1172LeufsTer27)
c.3282_3283insTTAA (p.Gln1095LeufsTer27)
c.3183_3184insTTAA (p.Gln1062LeufsTer27)
c.2364_2365insTTAA (p.Gln789LeufsTer27)
n.3915_3916insTTAA
 gnomAD v4
13g.51939054G>ACA483893569ATP7Bc.*1346C>T (n.*1346C>T)
c.*2440C>T (n.*2440C>T)
c.3075C>T (p.Thr1025=)
c.3696C>T (p.Thr1232=)
c.3363C>T (p.Thr1121=)
c.3444C>T (p.Thr1148=)
n.937C>T
c.3462C>T (p.Thr1154=)
n.3835C>T
n.562C>T
c.2631C>T (p.Thr877=)
c.2406C>T (p.Thr802=)
c.3501C>T (p.Thr1167=)
c.1474C>T
c.*797C>T (n.*797C>T)
n.4440C>T
n.3041C>T
c.3552C>T (p.Thr1184=)
c.3600C>T (p.Thr1200=)
c.3660C>T (p.Thr1220=)
c.3210C>T (p.Thr1070=)
c.1512C>T (p.Thr504=)
c.1329C>T (p.Thr443=)
c.3561C>T (p.Thr1187=)
c.3513C>T (p.Thr1171=)
c.3282C>T (p.Thr1094=)
c.3183C>T (p.Thr1061=)
c.2364C>T (p.Thr788=)
n.3915C>T
 ClinVar dbSNP
13g.51939054G>CCA483893571ATP7Bc.*1346C>G (n.*1346C>G)
c.*2440C>G (n.*2440C>G)
c.3075C>G (p.Thr1025=)
c.3696C>G (p.Thr1232=)
c.3363C>G (p.Thr1121=)
c.3444C>G (p.Thr1148=)
n.937C>G
c.3462C>G (p.Thr1154=)
n.3835C>G
n.562C>G
c.2631C>G (p.Thr877=)
c.2406C>G (p.Thr802=)
c.3501C>G (p.Thr1167=)
c.1474C>G
c.*797C>G (n.*797C>G)
n.4440C>G
n.3041C>G
c.3552C>G (p.Thr1184=)
c.3600C>G (p.Thr1200=)
c.3660C>G (p.Thr1220=)
c.3210C>G (p.Thr1070=)
c.1512C>G (p.Thr504=)
c.1329C>G (p.Thr443=)
c.3561C>G (p.Thr1187=)
c.3513C>G (p.Thr1171=)
c.3282C>G (p.Thr1094=)
c.3183C>G (p.Thr1061=)
c.2364C>G (p.Thr788=)
n.3915C>G
13g.51939054G=CA2091556595ATP7Bc.*1346C= (n.*1346C=)
c.*2440C= (n.*2440C=)
c.3075C= (p.Thr1025=)
c.3696C= (p.Thr1232=)
c.3363C= (p.Thr1121=)
c.3444C= (p.Thr1148=)
n.937C=
c.3462C= (p.Thr1154=)
n.3835C=
n.562C=
c.2631C= (p.Thr877=)
c.2406C= (p.Thr802=)
c.3501C= (p.Thr1167=)
c.1474C=
c.*797C= (n.*797C=)
n.4440C=
n.3041C=
c.3552C= (p.Thr1184=)
c.3600C= (p.Thr1200=)
c.3660C= (p.Thr1220=)
c.3210C= (p.Thr1070=)
c.1512C= (p.Thr504=)
c.1329C= (p.Thr443=)
c.3561C= (p.Thr1187=)
c.3513C= (p.Thr1171=)
c.3282C= (p.Thr1094=)
c.3183C= (p.Thr1061=)
c.2364C= (p.Thr788=)
n.3915C=
13g.51939054G>TCA483893573ATP7Bc.*1346C>A (n.*1346C>A)
c.*2440C>A (n.*2440C>A)
c.3075C>A (p.Thr1025=)
c.3696C>A (p.Thr1232=)
c.3363C>A (p.Thr1121=)
c.3444C>A (p.Thr1148=)
n.937C>A
c.3462C>A (p.Thr1154=)
n.3835C>A
n.562C>A
c.2631C>A (p.Thr877=)
c.2406C>A (p.Thr802=)
c.3501C>A (p.Thr1167=)
c.1474C>A
c.*797C>A (n.*797C>A)
n.4440C>A
n.3041C>A
c.3552C>A (p.Thr1184=)
c.3600C>A (p.Thr1200=)
c.3660C>A (p.Thr1220=)
c.3210C>A (p.Thr1070=)
c.1512C>A (p.Thr504=)
c.1329C>A (p.Thr443=)
c.3561C>A (p.Thr1187=)
c.3513C>A (p.Thr1171=)
c.3282C>A (p.Thr1094=)
c.3183C>A (p.Thr1061=)
c.2364C>A (p.Thr788=)
n.3915C>A
 ClinVar gnomAD v4
13g.51939055G>ACA388023539ATP7Bc.*1345C>T (n.*1345C>T)
c.*2439C>T (n.*2439C>T)
c.3074C>T (p.Thr1025Ile)
c.3695C>T (p.Thr1232Ile)
c.3362C>T (p.Thr1121Ile)
c.3443C>T (p.Thr1148Ile)
n.936C>T
c.3461C>T (p.Thr1154Ile)
n.3834C>T
n.561C>T
c.2630C>T (p.Thr877Ile)
c.2405C>T (p.Thr802Ile)
c.3500C>T (p.Thr1167Ile)
c.1473C>T
c.*796C>T (n.*796C>T)
n.4439C>T
n.3040C>T
c.3551C>T (p.Thr1184Ile)
c.3599C>T (p.Thr1200Ile)
c.3659C>T (p.Thr1220Ile)
c.3209C>T (p.Thr1070Ile)
c.1511C>T (p.Thr504Ile)
c.1328C>T (p.Thr443Ile)
c.3560C>T (p.Thr1187Ile)
c.3512C>T (p.Thr1171Ile)
c.3281C>T (p.Thr1094Ile)
c.3182C>T (p.Thr1061Ile)
c.2363C>T (p.Thr788Ile)
n.3914C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51939055G>CCA388023536ATP7Bc.*1345C>G (n.*1345C>G)
c.*2439C>G (n.*2439C>G)
c.3074C>G (p.Thr1025Ser)
c.3695C>G (p.Thr1232Ser)
c.3362C>G (p.Thr1121Ser)
c.3443C>G (p.Thr1148Ser)
n.936C>G
c.3461C>G (p.Thr1154Ser)
n.3834C>G
n.561C>G
c.2630C>G (p.Thr877Ser)
c.2405C>G (p.Thr802Ser)
c.3500C>G (p.Thr1167Ser)
c.1473C>G
c.*796C>G (n.*796C>G)
n.4439C>G
n.3040C>G
c.3551C>G (p.Thr1184Ser)
c.3599C>G (p.Thr1200Ser)
c.3659C>G (p.Thr1220Ser)
c.3209C>G (p.Thr1070Ser)
c.1511C>G (p.Thr504Ser)
c.1328C>G (p.Thr443Ser)
c.3560C>G (p.Thr1187Ser)
c.3512C>G (p.Thr1171Ser)
c.3281C>G (p.Thr1094Ser)
c.3182C>G (p.Thr1061Ser)
c.2363C>G (p.Thr788Ser)
n.3914C>G
13g.51939055G=CA2091556605ATP7Bc.*1345C= (n.*1345C=)
c.*2439C= (n.*2439C=)
c.3074C= (p.Thr1025=)
c.3695C= (p.Thr1232=)
c.3362C= (p.Thr1121=)
c.3443C= (p.Thr1148=)
n.936C=
c.3461C= (p.Thr1154=)
n.3834C=
n.561C=
c.2630C= (p.Thr877=)
c.2405C= (p.Thr802=)
c.3500C= (p.Thr1167=)
c.1473C=
c.*796C= (n.*796C=)
n.4439C=
n.3040C=
c.3551C= (p.Thr1184=)
c.3599C= (p.Thr1200=)
c.3659C= (p.Thr1220=)
c.3209C= (p.Thr1070=)
c.1511C= (p.Thr504=)
c.1328C= (p.Thr443=)
c.3560C= (p.Thr1187=)
c.3512C= (p.Thr1171=)
c.3281C= (p.Thr1094=)
c.3182C= (p.Thr1061=)
c.2363C= (p.Thr788=)
n.3914C=
13g.51939055G>TCA388023534ATP7Bc.*1345C>A (n.*1345C>A)
c.*2439C>A (n.*2439C>A)
c.3074C>A (p.Thr1025Asn)
c.3695C>A (p.Thr1232Asn)
c.3362C>A (p.Thr1121Asn)
c.3443C>A (p.Thr1148Asn)
n.936C>A
c.3461C>A (p.Thr1154Asn)
n.3834C>A
n.561C>A
c.2630C>A (p.Thr877Asn)
c.2405C>A (p.Thr802Asn)
c.3500C>A (p.Thr1167Asn)
c.1473C>A
c.*796C>A (n.*796C>A)
n.4439C>A
n.3040C>A
c.3551C>A (p.Thr1184Asn)
c.3599C>A (p.Thr1200Asn)
c.3659C>A (p.Thr1220Asn)
c.3209C>A (p.Thr1070Asn)
c.1511C>A (p.Thr504Asn)
c.1328C>A (p.Thr443Asn)
c.3560C>A (p.Thr1187Asn)
c.3512C>A (p.Thr1171Asn)
c.3281C>A (p.Thr1094Asn)
c.3182C>A (p.Thr1061Asn)
c.2363C>A (p.Thr788Asn)
n.3914C>A
13g.51939056T>ACA388023542ATP7Bc.*1344A>T (n.*1344A>T)
c.*2438A>T (n.*2438A>T)
c.3073A>T (p.Thr1025Ser)
c.3694A>T (p.Thr1232Ser)
c.3361A>T (p.Thr1121Ser)
c.3442A>T (p.Thr1148Ser)
n.935A>T
c.3460A>T (p.Thr1154Ser)
n.3833A>T
n.560A>T
c.2629A>T (p.Thr877Ser)
c.2404A>T (p.Thr802Ser)
c.3499A>T (p.Thr1167Ser)
c.1472A>T
c.*795A>T (n.*795A>T)
n.4438A>T
n.3039A>T
c.3550A>T (p.Thr1184Ser)
c.3598A>T (p.Thr1200Ser)
c.3658A>T (p.Thr1220Ser)
c.3208A>T (p.Thr1070Ser)
c.1510A>T (p.Thr504Ser)
c.1327A>T (p.Thr443Ser)
c.3559A>T (p.Thr1187Ser)
c.3511A>T (p.Thr1171Ser)
c.3280A>T (p.Thr1094Ser)
c.3181A>T (p.Thr1061Ser)
c.2362A>T (p.Thr788Ser)
n.3913A>T
13g.51939056T>CCA388023544ATP7Bc.*1344A>G (n.*1344A>G)
c.*2438A>G (n.*2438A>G)
c.3073A>G (p.Thr1025Ala)
c.3694A>G (p.Thr1232Ala)
c.3361A>G (p.Thr1121Ala)
c.3442A>G (p.Thr1148Ala)
n.935A>G
c.3460A>G (p.Thr1154Ala)
n.3833A>G
n.560A>G
c.2629A>G (p.Thr877Ala)
c.2404A>G (p.Thr802Ala)
c.3499A>G (p.Thr1167Ala)
c.1472A>G
c.*795A>G (n.*795A>G)
n.4438A>G
n.3039A>G
c.3550A>G (p.Thr1184Ala)
c.3598A>G (p.Thr1200Ala)
c.3658A>G (p.Thr1220Ala)
c.3208A>G (p.Thr1070Ala)
c.1510A>G (p.Thr504Ala)
c.1327A>G (p.Thr443Ala)
c.3559A>G (p.Thr1187Ala)
c.3511A>G (p.Thr1171Ala)
c.3280A>G (p.Thr1094Ala)
c.3181A>G (p.Thr1061Ala)
c.2362A>G (p.Thr788Ala)
n.3913A>G
13g.51939056T>GCA6988608ATP7Bc.*1344A>C (n.*1344A>C)
c.*2438A>C (n.*2438A>C)
c.3073A>C (p.Thr1025Pro)
c.3694A>C (p.Thr1232Pro)
c.3361A>C (p.Thr1121Pro)
c.3442A>C (p.Thr1148Pro)
n.935A>C
c.3460A>C (p.Thr1154Pro)
n.3833A>C
n.560A>C
c.2629A>C (p.Thr877Pro)
c.2404A>C (p.Thr802Pro)
c.3499A>C (p.Thr1167Pro)
c.1472A>C
c.*795A>C (n.*795A>C)
n.4438A>C
n.3039A>C
c.3550A>C (p.Thr1184Pro)
c.3598A>C (p.Thr1200Pro)
c.3658A>C (p.Thr1220Pro)
c.3208A>C (p.Thr1070Pro)
c.1510A>C (p.Thr504Pro)
c.1327A>C (p.Thr443Pro)
c.3559A>C (p.Thr1187Pro)
c.3511A>C (p.Thr1171Pro)
c.3280A>C (p.Thr1094Pro)
c.3181A>C (p.Thr1061Pro)
c.2362A>C (p.Thr788Pro)
n.3913A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51939056T=CA2091556613ATP7Bc.*1344A= (n.*1344A=)
c.*2438A= (n.*2438A=)
c.3073A= (p.Thr1025=)
c.3694A= (p.Thr1232=)
c.3361A= (p.Thr1121=)
c.3442A= (p.Thr1148=)
n.935A=
c.3460A= (p.Thr1154=)
n.3833A=
n.560A=
c.2629A= (p.Thr877=)
c.2404A= (p.Thr802=)
c.3499A= (p.Thr1167=)
c.1472A=
c.*795A= (n.*795A=)
n.4438A=
n.3039A=
c.3550A= (p.Thr1184=)
c.3598A= (p.Thr1200=)
c.3658A= (p.Thr1220=)
c.3208A= (p.Thr1070=)
c.1510A= (p.Thr504=)
c.1327A= (p.Thr443=)
c.3559A= (p.Thr1187=)
c.3511A= (p.Thr1171=)
c.3280A= (p.Thr1094=)
c.3181A= (p.Thr1061=)
c.2362A= (p.Thr788=)
n.3913A=
13g.51939056_51939057delinsTGCA2091556620ATP7Bc.*1343_*1344delinsCA (n.*1343_*1344delinsCA)
c.*2437_*2438delinsCA (n.*2437_*2438delinsCA)
c.3072_3073delinsCA (p.Ala1024=)
c.3693_3694delinsCA (p.Ala1231=)
c.3360_3361delinsCA (p.Ala1120=)
c.3441_3442delinsCA (p.Ala1147=)
n.934_935delinsCA
c.3459_3460delinsCA (p.Ala1153=)
n.3832_3833delinsCA
n.559_560delinsCA
c.2628_2629delinsCA (p.Ala876=)
c.2403_2404delinsCA (p.Ala801=)
c.3498_3499delinsCA (p.Ala1166=)
c.1471_1472delinsCA
c.*794_*795delinsCA (n.*794_*795delinsCA)
n.4437_4438delinsCA
n.3038_3039delinsCA
c.3549_3550delinsCA (p.Ala1183=)
c.3597_3598delinsCA (p.Ala1199=)
c.3657_3658delinsCA (p.Ala1219=)
c.3207_3208delinsCA (p.Ala1069=)
c.1509_1510delinsCA (p.Ala503=)
c.1326_1327delinsCA (p.Ala442=)
c.3558_3559delinsCA (p.Ala1186=)
c.3510_3511delinsCA (p.Ala1170=)
c.3279_3280delinsCA (p.Ala1093=)
c.3180_3181delinsCA (p.Ala1060=)
c.2361_2362delinsCA (p.Ala787=)
n.3912_3913delinsCA
13g.51939056_51939057insACCACA2514975998ATP7Bc.*1343_*1344insTGGT (n.*1343_*1344insTGGT)
c.*2437_*2438insTGGT (n.*2437_*2438insTGGT)
c.3072_3073insTGGT (p.Thr1025TrpfsTer28)
c.3693_3694insTGGT (p.Thr1232TrpfsTer28)
c.3360_3361insTGGT (p.Thr1121TrpfsTer28)
c.3441_3442insTGGT (p.Thr1148TrpfsTer28)
n.934_935insTGGT
c.3459_3460insTGGT (p.Thr1154TrpfsTer28)
n.3832_3833insTGGT
n.559_560insTGGT
c.2628_2629insTGGT (p.Thr877TrpfsTer28)
c.2403_2404insTGGT (p.Thr802TrpfsTer28)
c.3498_3499insTGGT (p.Thr1167TrpfsTer28)
c.1471_1472insTGGT
c.*794_*795insTGGT (n.*794_*795insTGGT)
n.4437_4438insTGGT
n.3038_3039insTGGT
c.3549_3550insTGGT (p.Thr1184TrpfsTer28)
c.3597_3598insTGGT (p.Thr1200TrpfsTer28)
c.3657_3658insTGGT (p.Thr1220TrpfsTer28)
c.3207_3208insTGGT (p.Thr1070TrpfsTer28)
c.1509_1510insTGGT (p.Thr504TrpfsTer28)
c.1326_1327insTGGT (p.Thr443TrpfsTer28)
c.3558_3559insTGGT (p.Thr1187TrpfsTer28)
c.3510_3511insTGGT (p.Thr1171TrpfsTer28)
c.3279_3280insTGGT (p.Thr1094TrpfsTer28)
c.3180_3181insTGGT (p.Thr1061TrpfsTer28)
c.2361_2362insTGGT (p.Thr788TrpfsTer28)
n.3912_3913insTGGT
 gnomAD v4
13g.51939056_51939057insTAATGTACCAGCA2573149698ATP7Bc.*1343_*1344insCTGGTACATTA (n.*1343_*1344insCTGGTACATTA)
c.*2437_*2438insCTGGTACATTA (n.*2437_*2438insCTGGTACATTA)
c.3072_3073insCTGGTACATTA (p.Thr1025LeufsTer4)
c.3693_3694insCTGGTACATTA (p.Thr1232LeufsTer4)
c.3360_3361insCTGGTACATTA (p.Thr1121LeufsTer4)
c.3441_3442insCTGGTACATTA (p.Thr1148LeufsTer4)
n.934_935insCTGGTACATTA
c.3459_3460insCTGGTACATTA (p.Thr1154LeufsTer4)
n.3832_3833insCTGGTACATTA
n.559_560insCTGGTACATTA
c.2628_2629insCTGGTACATTA (p.Thr877LeufsTer4)
c.2403_2404insCTGGTACATTA (p.Thr802LeufsTer4)
c.3498_3499insCTGGTACATTA (p.Thr1167LeufsTer4)
c.1471_1472insCTGGTACATTA
c.*794_*795insCTGGTACATTA (n.*794_*795insCTGGTACATTA)
n.4437_4438insCTGGTACATTA
n.3038_3039insCTGGTACATTA
c.3549_3550insCTGGTACATTA (p.Thr1184LeufsTer4)
c.3597_3598insCTGGTACATTA (p.Thr1200LeufsTer4)
c.3657_3658insCTGGTACATTA (p.Thr1220LeufsTer4)
c.3207_3208insCTGGTACATTA (p.Thr1070LeufsTer4)
c.1509_1510insCTGGTACATTA (p.Thr504LeufsTer4)
c.1326_1327insCTGGTACATTA (p.Thr443LeufsTer4)
c.3558_3559insCTGGTACATTA (p.Thr1187LeufsTer4)
c.3510_3511insCTGGTACATTA (p.Thr1171LeufsTer4)
c.3279_3280insCTGGTACATTA (p.Thr1094LeufsTer4)
c.3180_3181insCTGGTACATTA (p.Thr1061LeufsTer4)
c.2361_2362insCTGGTACATTA (p.Thr788LeufsTer4)
n.3912_3913insCTGGTACATTA
 dbSNP
13g.51939057G>ACA483893582ATP7Bc.*1343C>T (n.*1343C>T)
c.*2437C>T (n.*2437C>T)
c.3072C>T (p.Ala1024=)
c.3693C>T (p.Ala1231=)
c.3360C>T (p.Ala1120=)
c.3441C>T (p.Ala1147=)
n.934C>T
c.3459C>T (p.Ala1153=)
n.3832C>T
n.559C>T
c.2628C>T (p.Ala876=)
c.2403C>T (p.Ala801=)
c.3498C>T (p.Ala1166=)
c.1471C>T
c.*794C>T (n.*794C>T)
n.4437C>T
n.3038C>T
c.3549C>T (p.Ala1183=)
c.3597C>T (p.Ala1199=)
c.3657C>T (p.Ala1219=)
c.3207C>T (p.Ala1069=)
c.1509C>T (p.Ala503=)
c.1326C>T (p.Ala442=)
c.3558C>T (p.Ala1186=)
c.3510C>T (p.Ala1170=)
c.3279C>T (p.Ala1093=)
c.3180C>T (p.Ala1060=)
c.2361C>T (p.Ala787=)
n.3912C>T
 gnomAD v4
13g.51939057G>CCA483893584ATP7Bc.*1343C>G (n.*1343C>G)
c.*2437C>G (n.*2437C>G)
c.3072C>G (p.Ala1024=)
c.3693C>G (p.Ala1231=)
c.3360C>G (p.Ala1120=)
c.3441C>G (p.Ala1147=)
n.934C>G
c.3459C>G (p.Ala1153=)
n.3832C>G
n.559C>G
c.2628C>G (p.Ala876=)
c.2403C>G (p.Ala801=)
c.3498C>G (p.Ala1166=)
c.1471C>G
c.*794C>G (n.*794C>G)
n.4437C>G
n.3038C>G
c.3549C>G (p.Ala1183=)
c.3597C>G (p.Ala1199=)
c.3657C>G (p.Ala1219=)
c.3207C>G (p.Ala1069=)
c.1509C>G (p.Ala503=)
c.1326C>G (p.Ala442=)
c.3558C>G (p.Ala1186=)
c.3510C>G (p.Ala1170=)
c.3279C>G (p.Ala1093=)
c.3180C>G (p.Ala1060=)
c.2361C>G (p.Ala787=)
n.3912C>G
13g.51939057G>TCA483893585ATP7Bc.*1343C>A (n.*1343C>A)
c.*2437C>A (n.*2437C>A)
c.3072C>A (p.Ala1024=)
c.3693C>A (p.Ala1231=)
c.3360C>A (p.Ala1120=)
c.3441C>A (p.Ala1147=)
n.934C>A
c.3459C>A (p.Ala1153=)
n.3832C>A
n.559C>A
c.2628C>A (p.Ala876=)
c.2403C>A (p.Ala801=)
c.3498C>A (p.Ala1166=)
c.1471C>A
c.*794C>A (n.*794C>A)
n.4437C>A
n.3038C>A
c.3549C>A (p.Ala1183=)
c.3597C>A (p.Ala1199=)
c.3657C>A (p.Ala1219=)
c.3207C>A (p.Ala1069=)
c.1509C>A (p.Ala503=)
c.1326C>A (p.Ala442=)
c.3558C>A (p.Ala1186=)
c.3510C>A (p.Ala1170=)
c.3279C>A (p.Ala1093=)
c.3180C>A (p.Ala1060=)
c.2361C>A (p.Ala787=)
n.3912C>A
13g.51939057delinsTAATGTTAATGTACCAGACA1139663302ATP7Bc.*1343delinsTCTGGTACATTAACATTA (n.*1343delinsTCTGGTACATTAACATTA)
c.*2437delinsTCTGGTACATTAACATTA (n.*2437delinsTCTGGTACATTAACATTA)
c.3072delinsTCTGGTACATTAACATTA (p.Thr1025LeufsTer4)
c.3693delinsTCTGGTACATTAACATTA (p.Thr1232LeufsTer4)
c.3360delinsTCTGGTACATTAACATTA (p.Thr1121LeufsTer4)
c.3441delinsTCTGGTACATTAACATTA (p.Thr1148LeufsTer4)
n.934delinsTCTGGTACATTAACATTA
c.3459delinsTCTGGTACATTAACATTA (p.Thr1154LeufsTer4)
n.3832delinsTCTGGTACATTAACATTA
n.559delinsTCTGGTACATTAACATTA
c.2628delinsTCTGGTACATTAACATTA (p.Thr877LeufsTer4)
c.2403delinsTCTGGTACATTAACATTA (p.Thr802LeufsTer4)
c.3498delinsTCTGGTACATTAACATTA (p.Thr1167LeufsTer4)
c.1471delinsTCTGGTACATTAACATTA
c.*794delinsTCTGGTACATTAACATTA (n.*794delinsTCTGGTACATTAACATTA)
n.4437delinsTCTGGTACATTAACATTA
n.3038delinsTCTGGTACATTAACATTA
c.3549delinsTCTGGTACATTAACATTA (p.Thr1184LeufsTer4)
c.3597delinsTCTGGTACATTAACATTA (p.Thr1200LeufsTer4)
c.3657delinsTCTGGTACATTAACATTA (p.Thr1220LeufsTer4)
c.3207delinsTCTGGTACATTAACATTA (p.Thr1070LeufsTer4)
c.1509delinsTCTGGTACATTAACATTA (p.Thr504LeufsTer4)
c.1326delinsTCTGGTACATTAACATTA (p.Thr443LeufsTer4)
c.3558delinsTCTGGTACATTAACATTA (p.Thr1187LeufsTer4)
c.3510delinsTCTGGTACATTAACATTA (p.Thr1171LeufsTer4)
c.3279delinsTCTGGTACATTAACATTA (p.Thr1094LeufsTer4)
c.3180delinsTCTGGTACATTAACATTA (p.Thr1061LeufsTer4)
c.2361delinsTCTGGTACATTAACATTA (p.Thr788LeufsTer4)
n.3912delinsTCTGGTACATTAACATTA
 ClinVar dbSNP
13g.51939057_51939058insACA2506012428ATP7Bc.*1342_*1343insT (n.*1342_*1343insT)
c.*2436_*2437insT (n.*2436_*2437insT)
c.3071_3072insT (p.Thr1025HisfsTer27)
c.3692_3693insT (p.Thr1232HisfsTer27)
c.3359_3360insT (p.Thr1121HisfsTer27)
c.3440_3441insT (p.Thr1148HisfsTer27)
n.933_934insT
c.3458_3459insT (p.Thr1154HisfsTer27)
n.3831_3832insT
n.558_559insT
c.2627_2628insT (p.Thr877HisfsTer27)
c.2402_2403insT (p.Thr802HisfsTer27)
c.3497_3498insT (p.Thr1167HisfsTer27)
c.1470_1471insT
c.*793_*794insT (n.*793_*794insT)
n.4436_4437insT
n.3037_3038insT
c.3548_3549insT (p.Thr1184HisfsTer27)
c.3596_3597insT (p.Thr1200HisfsTer27)
c.3656_3657insT (p.Thr1220HisfsTer27)
c.3206_3207insT (p.Thr1070HisfsTer27)
c.1508_1509insT (p.Thr504HisfsTer27)
c.1325_1326insT (p.Thr443HisfsTer27)
c.3557_3558insT (p.Thr1187HisfsTer27)
c.3509_3510insT (p.Thr1171HisfsTer27)
c.3278_3279insT (p.Thr1094HisfsTer27)
c.3179_3180insT (p.Thr1061HisfsTer27)
c.2360_2361insT (p.Thr788HisfsTer27)
n.3911_3912insT
 gnomAD v4
13g.51939058G>ACA388023555ATP7Bc.*1342C>T (n.*1342C>T)
c.*2436C>T (n.*2436C>T)
c.3071C>T (p.Ala1024Val)
c.3692C>T (p.Ala1231Val)
c.3359C>T (p.Ala1120Val)
c.3440C>T (p.Ala1147Val)
n.933C>T
c.3458C>T (p.Ala1153Val)
n.3831C>T
n.558C>T
c.2627C>T (p.Ala876Val)
c.2402C>T (p.Ala801Val)
c.3497C>T (p.Ala1166Val)
c.1470C>T
c.*793C>T (n.*793C>T)
n.4436C>T
n.3037C>T
c.3548C>T (p.Ala1183Val)
c.3596C>T (p.Ala1199Val)
c.3656C>T (p.Ala1219Val)
c.3206C>T (p.Ala1069Val)
c.1508C>T (p.Ala503Val)
c.1325C>T (p.Ala442Val)
c.3557C>T (p.Ala1186Val)
c.3509C>T (p.Ala1170Val)
c.3278C>T (p.Ala1093Val)
c.3179C>T (p.Ala1060Val)
c.2360C>T (p.Ala787Val)
n.3911C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51939058G>CCA388023559ATP7Bc.*1342C>G (n.*1342C>G)
c.*2436C>G (n.*2436C>G)
c.3071C>G (p.Ala1024Gly)
c.3692C>G (p.Ala1231Gly)
c.3359C>G (p.Ala1120Gly)
c.3440C>G (p.Ala1147Gly)
n.933C>G
c.3458C>G (p.Ala1153Gly)
n.3831C>G
n.558C>G
c.2627C>G (p.Ala876Gly)
c.2402C>G (p.Ala801Gly)
c.3497C>G (p.Ala1166Gly)
c.1470C>G
c.*793C>G (n.*793C>G)
n.4436C>G
n.3037C>G
c.3548C>G (p.Ala1183Gly)
c.3596C>G (p.Ala1199Gly)
c.3656C>G (p.Ala1219Gly)
c.3206C>G (p.Ala1069Gly)
c.1508C>G (p.Ala503Gly)
c.1325C>G (p.Ala442Gly)
c.3557C>G (p.Ala1186Gly)
c.3509C>G (p.Ala1170Gly)
c.3278C>G (p.Ala1093Gly)
c.3179C>G (p.Ala1060Gly)
c.2360C>G (p.Ala787Gly)
n.3911C>G
13g.51939058G=CA2091556632ATP7Bc.*1342C= (n.*1342C=)
c.*2436C= (n.*2436C=)
c.3071C= (p.Ala1024=)
c.3692C= (p.Ala1231=)
c.3359C= (p.Ala1120=)
c.3440C= (p.Ala1147=)
n.933C=
c.3458C= (p.Ala1153=)
n.3831C=
n.558C=
c.2627C= (p.Ala876=)
c.2402C= (p.Ala801=)
c.3497C= (p.Ala1166=)
c.1470C=
c.*793C= (n.*793C=)
n.4436C=
n.3037C=
c.3548C= (p.Ala1183=)
c.3596C= (p.Ala1199=)
c.3656C= (p.Ala1219=)
c.3206C= (p.Ala1069=)
c.1508C= (p.Ala503=)
c.1325C= (p.Ala442=)
c.3557C= (p.Ala1186=)
c.3509C= (p.Ala1170=)
c.3278C= (p.Ala1093=)
c.3179C= (p.Ala1060=)
c.2360C= (p.Ala787=)
n.3911C=
13g.51939058G>TCA388023569ATP7Bc.*1342C>A (n.*1342C>A)
c.*2436C>A (n.*2436C>A)
c.3071C>A (p.Ala1024Asp)
c.3692C>A (p.Ala1231Asp)
c.3359C>A (p.Ala1120Asp)
c.3440C>A (p.Ala1147Asp)
n.933C>A
c.3458C>A (p.Ala1153Asp)
n.3831C>A
n.558C>A
c.2627C>A (p.Ala876Asp)
c.2402C>A (p.Ala801Asp)
c.3497C>A (p.Ala1166Asp)
c.1470C>A
c.*793C>A (n.*793C>A)
n.4436C>A
n.3037C>A
c.3548C>A (p.Ala1183Asp)
c.3596C>A (p.Ala1199Asp)
c.3656C>A (p.Ala1219Asp)
c.3206C>A (p.Ala1069Asp)
c.1508C>A (p.Ala503Asp)
c.1325C>A (p.Ala442Asp)
c.3557C>A (p.Ala1186Asp)
c.3509C>A (p.Ala1170Asp)
c.3278C>A (p.Ala1093Asp)
c.3179C>A (p.Ala1060Asp)
c.2360C>A (p.Ala787Asp)
n.3911C>A
13g.51939059delCA2573149699ATP7Bc.*1341del (n.*1341del)
c.*2435del (n.*2435del)
c.3070del (p.Ala1024ProfsTer?)
c.3691del (p.Ala1231ProfsTer?)
c.3358del (p.Ala1120ProfsTer?)
c.3439del (p.Ala1147ProfsTer?)
n.932del
c.3457del (p.Ala1153ProfsTer?)
n.3830del
n.557del
c.2626del (p.Ala876ProfsTer?)
c.2401del (p.Ala801ProfsTer?)
c.3496del (p.Ala1166ProfsTer?)
c.1469del
c.*792del (n.*792del)
n.4435del
n.3036del
c.3547del (p.Ala1183ProfsTer?)
c.3595del (p.Ala1199ProfsTer?)
c.3655del (p.Ala1219ProfsTer?)
c.3205del (p.Ala1069ProfsTer?)
c.1507del (p.Ala503ProfsTer?)
c.1324del (p.Ala442ProfsTer?)
c.3556del (p.Ala1186ProfsTer?)
c.3508del (p.Ala1170ProfsTer?)
c.3277del (p.Ala1093ProfsTer?)
c.3178del (p.Ala1060ProfsTer?)
c.2359del (p.Ala787ProfsTer?)
n.3910del
 ClinVar dbSNP
13g.51939059C>ACA388023573ATP7Bc.*1341G>T (n.*1341G>T)
c.*2435G>T (n.*2435G>T)
c.3070G>T (p.Ala1024Ser)
c.3691G>T (p.Ala1231Ser)
c.3358G>T (p.Ala1120Ser)
c.3439G>T (p.Ala1147Ser)
n.932G>T
c.3457G>T (p.Ala1153Ser)
n.3830G>T
n.557G>T
c.2626G>T (p.Ala876Ser)
c.2401G>T (p.Ala801Ser)
c.3496G>T (p.Ala1166Ser)
c.1469G>T
c.*792G>T (n.*792G>T)
n.4435G>T
n.3036G>T
c.3547G>T (p.Ala1183Ser)
c.3595G>T (p.Ala1199Ser)
c.3655G>T (p.Ala1219Ser)
c.3205G>T (p.Ala1069Ser)
c.1507G>T (p.Ala503Ser)
c.1324G>T (p.Ala442Ser)
c.3556G>T (p.Ala1186Ser)
c.3508G>T (p.Ala1170Ser)
c.3277G>T (p.Ala1093Ser)
c.3178G>T (p.Ala1060Ser)
c.2359G>T (p.Ala787Ser)
n.3910G>T
13g.51939059C>GCA388023577ATP7Bc.*1341G>C (n.*1341G>C)
c.*2435G>C (n.*2435G>C)
c.3070G>C (p.Ala1024Pro)
c.3691G>C (p.Ala1231Pro)
c.3358G>C (p.Ala1120Pro)
c.3439G>C (p.Ala1147Pro)
n.932G>C
c.3457G>C (p.Ala1153Pro)
n.3830G>C
n.557G>C
c.2626G>C (p.Ala876Pro)
c.2401G>C (p.Ala801Pro)
c.3496G>C (p.Ala1166Pro)
c.1469G>C
c.*792G>C (n.*792G>C)
n.4435G>C
n.3036G>C
c.3547G>C (p.Ala1183Pro)
c.3595G>C (p.Ala1199Pro)
c.3655G>C (p.Ala1219Pro)
c.3205G>C (p.Ala1069Pro)
c.1507G>C (p.Ala503Pro)
c.1324G>C (p.Ala442Pro)
c.3556G>C (p.Ala1186Pro)
c.3508G>C (p.Ala1170Pro)
c.3277G>C (p.Ala1093Pro)
c.3178G>C (p.Ala1060Pro)
c.2359G>C (p.Ala787Pro)
n.3910G>C
13g.51939059C>TCA388023575ATP7Bc.*1341G>A (n.*1341G>A)
c.*2435G>A (n.*2435G>A)
c.3070G>A (p.Ala1024Thr)
c.3691G>A (p.Ala1231Thr)
c.3358G>A (p.Ala1120Thr)
c.3439G>A (p.Ala1147Thr)
n.932G>A
c.3457G>A (p.Ala1153Thr)
n.3830G>A
n.557G>A
c.2626G>A (p.Ala876Thr)
c.2401G>A (p.Ala801Thr)
c.3496G>A (p.Ala1166Thr)
c.1469G>A
c.*792G>A (n.*792G>A)
n.4435G>A
n.3036G>A
c.3547G>A (p.Ala1183Thr)
c.3595G>A (p.Ala1199Thr)
c.3655G>A (p.Ala1219Thr)
c.3205G>A (p.Ala1069Thr)
c.1507G>A (p.Ala503Thr)
c.1324G>A (p.Ala442Thr)
c.3556G>A (p.Ala1186Thr)
c.3508G>A (p.Ala1170Thr)
c.3277G>A (p.Ala1093Thr)
c.3178G>A (p.Ala1060Thr)
c.2359G>A (p.Ala787Thr)
n.3910G>A
 gnomAD v4
13g.51939060A>CCA388023580ATP7Bc.*1340T>G (n.*1340T>G)
c.*2434T>G (n.*2434T>G)
c.3069T>G (p.Ile1023Met)
c.3690T>G (p.Ile1230Met)
c.3357T>G (p.Ile1119Met)
c.3438T>G (p.Ile1146Met)
n.931T>G
c.3456T>G (p.Ile1152Met)
n.3829T>G
n.556T>G
c.2625T>G (p.Ile875Met)
c.2400T>G (p.Ile800Met)
c.3495T>G (p.Ile1165Met)
c.1468T>G
c.*791T>G (n.*791T>G)
n.4434T>G
n.3035T>G
c.3546T>G (p.Ile1182Met)
c.3594T>G (p.Ile1198Met)
c.3654T>G (p.Ile1218Met)
c.3204T>G (p.Ile1068Met)
c.1506T>G (p.Ile502Met)
c.1323T>G (p.Ile441Met)
c.3555T>G (p.Ile1185Met)
c.3507T>G (p.Ile1169Met)
c.3276T>G (p.Ile1092Met)
c.3177T>G (p.Ile1059Met)
c.2358T>G (p.Ile786Met)
n.3909T>G
 gnomAD v4
13g.51939060A>GCA483893595ATP7Bc.*1340T>C (n.*1340T>C)
c.*2434T>C (n.*2434T>C)
c.3069T>C (p.Ile1023=)
c.3690T>C (p.Ile1230=)
c.3357T>C (p.Ile1119=)
c.3438T>C (p.Ile1146=)
n.931T>C
c.3456T>C (p.Ile1152=)
n.3829T>C
n.556T>C
c.2625T>C (p.Ile875=)
c.2400T>C (p.Ile800=)
c.3495T>C (p.Ile1165=)
c.1468T>C
c.*791T>C (n.*791T>C)
n.4434T>C
n.3035T>C
c.3546T>C (p.Ile1182=)
c.3594T>C (p.Ile1198=)
c.3654T>C (p.Ile1218=)
c.3204T>C (p.Ile1068=)
c.1506T>C (p.Ile502=)
c.1323T>C (p.Ile441=)
c.3555T>C (p.Ile1185=)
c.3507T>C (p.Ile1169=)
c.3276T>C (p.Ile1092=)
c.3177T>C (p.Ile1059=)
c.2358T>C (p.Ile786=)
n.3909T>C
13g.51939060A>TCA483893596ATP7Bc.*1340T>A (n.*1340T>A)
c.*2434T>A (n.*2434T>A)
c.3069T>A (p.Ile1023=)
c.3690T>A (p.Ile1230=)
c.3357T>A (p.Ile1119=)
c.3438T>A (p.Ile1146=)
n.931T>A
c.3456T>A (p.Ile1152=)
n.3829T>A
n.556T>A
c.2625T>A (p.Ile875=)
c.2400T>A (p.Ile800=)
c.3495T>A (p.Ile1165=)
c.1468T>A
c.*791T>A (n.*791T>A)
n.4434T>A
n.3035T>A
c.3546T>A (p.Ile1182=)
c.3594T>A (p.Ile1198=)
c.3654T>A (p.Ile1218=)
c.3204T>A (p.Ile1068=)
c.1506T>A (p.Ile502=)
c.1323T>A (p.Ile441=)
c.3555T>A (p.Ile1185=)
c.3507T>A (p.Ile1169=)
c.3276T>A (p.Ile1092=)
c.3177T>A (p.Ile1059=)
c.2358T>A (p.Ile786=)
n.3909T>A
 gnomAD v4
13g.51939061A>CCA388023586ATP7Bc.*1339T>G (n.*1339T>G)
c.*2433T>G (n.*2433T>G)
c.3068T>G (p.Ile1023Ser)
c.3689T>G (p.Ile1230Ser)
c.3356T>G (p.Ile1119Ser)
c.3437T>G (p.Ile1146Ser)
n.930T>G
c.3455T>G (p.Ile1152Ser)
n.3828T>G
n.555T>G
c.2624T>G (p.Ile875Ser)
c.2399T>G (p.Ile800Ser)
c.3494T>G (p.Ile1165Ser)
c.1467T>G
c.*790T>G (n.*790T>G)
n.4433T>G
n.3034T>G
c.3545T>G (p.Ile1182Ser)
c.3593T>G (p.Ile1198Ser)
c.3653T>G (p.Ile1218Ser)
c.3203T>G (p.Ile1068Ser)
c.1505T>G (p.Ile502Ser)
c.1322T>G (p.Ile441Ser)
c.3554T>G (p.Ile1185Ser)
c.3506T>G (p.Ile1169Ser)
c.3275T>G (p.Ile1092Ser)
c.3176T>G (p.Ile1059Ser)
c.2357T>G (p.Ile786Ser)
n.3908T>G
13g.51939061A>GCA388023595ATP7Bc.*1339T>C (n.*1339T>C)
c.*2433T>C (n.*2433T>C)
c.3068T>C (p.Ile1023Thr)
c.3689T>C (p.Ile1230Thr)
c.3356T>C (p.Ile1119Thr)
c.3437T>C (p.Ile1146Thr)
n.930T>C
c.3455T>C (p.Ile1152Thr)
n.3828T>C
n.555T>C
c.2624T>C (p.Ile875Thr)
c.2399T>C (p.Ile800Thr)
c.3494T>C (p.Ile1165Thr)
c.1467T>C
c.*790T>C (n.*790T>C)
n.4433T>C
n.3034T>C
c.3545T>C (p.Ile1182Thr)
c.3593T>C (p.Ile1198Thr)
c.3653T>C (p.Ile1218Thr)
c.3203T>C (p.Ile1068Thr)
c.1505T>C (p.Ile502Thr)
c.1322T>C (p.Ile441Thr)
c.3554T>C (p.Ile1185Thr)
c.3506T>C (p.Ile1169Thr)
c.3275T>C (p.Ile1092Thr)
c.3176T>C (p.Ile1059Thr)
c.2357T>C (p.Ile786Thr)
n.3908T>C
13g.51939061A>TCA388023599ATP7Bc.*1339T>A (n.*1339T>A)
c.*2433T>A (n.*2433T>A)
c.3068T>A (p.Ile1023Asn)
c.3689T>A (p.Ile1230Asn)
c.3356T>A (p.Ile1119Asn)
c.3437T>A (p.Ile1146Asn)
n.930T>A
c.3455T>A (p.Ile1152Asn)
n.3828T>A
n.555T>A
c.2624T>A (p.Ile875Asn)
c.2399T>A (p.Ile800Asn)
c.3494T>A (p.Ile1165Asn)
c.1467T>A
c.*790T>A (n.*790T>A)
n.4433T>A
n.3034T>A
c.3545T>A (p.Ile1182Asn)
c.3593T>A (p.Ile1198Asn)
c.3653T>A (p.Ile1218Asn)
c.3203T>A (p.Ile1068Asn)
c.1505T>A (p.Ile502Asn)
c.1322T>A (p.Ile441Asn)
c.3554T>A (p.Ile1185Asn)
c.3506T>A (p.Ile1169Asn)
c.3275T>A (p.Ile1092Asn)
c.3176T>A (p.Ile1059Asn)
c.2357T>A (p.Ile786Asn)
n.3908T>A
13g.51939062T>ACA388023605ATP7Bc.*1338A>T (n.*1338A>T)
c.*2432A>T (n.*2432A>T)
c.3067A>T (p.Ile1023Phe)
c.3688A>T (p.Ile1230Phe)
c.3355A>T (p.Ile1119Phe)
c.3436A>T (p.Ile1146Phe)
n.929A>T
c.3454A>T (p.Ile1152Phe)
n.3827A>T
n.554A>T
c.2623A>T (p.Ile875Phe)
c.2398A>T (p.Ile800Phe)
c.3493A>T (p.Ile1165Phe)
c.1466A>T
c.*789A>T (n.*789A>T)
n.4432A>T
n.3033A>T
c.3544A>T (p.Ile1182Phe)
c.3592A>T (p.Ile1198Phe)
c.3652A>T (p.Ile1218Phe)
c.3202A>T (p.Ile1068Phe)
c.1504A>T (p.Ile502Phe)
c.1321A>T (p.Ile441Phe)
c.3553A>T (p.Ile1185Phe)
c.3505A>T (p.Ile1169Phe)
c.3274A>T (p.Ile1092Phe)
c.3175A>T (p.Ile1059Phe)
c.2356A>T (p.Ile786Phe)
n.3907A>T
13g.51939062T>CCA6988609ATP7Bc.*1338A>G (n.*1338A>G)
c.*2432A>G (n.*2432A>G)
c.3067A>G (p.Ile1023Val)
c.3688A>G (p.Ile1230Val)
c.3355A>G (p.Ile1119Val)
c.3436A>G (p.Ile1146Val)
n.929A>G
c.3454A>G (p.Ile1152Val)
n.3827A>G
n.554A>G
c.2623A>G (p.Ile875Val)
c.2398A>G (p.Ile800Val)
c.3493A>G (p.Ile1165Val)
c.1466A>G
c.*789A>G (n.*789A>G)
n.4432A>G
n.3033A>G
c.3544A>G (p.Ile1182Val)
c.3592A>G (p.Ile1198Val)
c.3652A>G (p.Ile1218Val)
c.3202A>G (p.Ile1068Val)
c.1504A>G (p.Ile502Val)
c.1321A>G (p.Ile441Val)
c.3553A>G (p.Ile1185Val)
c.3505A>G (p.Ile1169Val)
c.3274A>G (p.Ile1092Val)
c.3175A>G (p.Ile1059Val)
c.2356A>G (p.Ile786Val)
n.3907A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51939062T>GCA6988610ATP7Bc.*1338A>C (n.*1338A>C)
c.*2432A>C (n.*2432A>C)
c.3067A>C (p.Ile1023Leu)
c.3688A>C (p.Ile1230Leu)
c.3355A>C (p.Ile1119Leu)
c.3436A>C (p.Ile1146Leu)
n.929A>C
c.3454A>C (p.Ile1152Leu)
n.3827A>C
n.554A>C
c.2623A>C (p.Ile875Leu)
c.2398A>C (p.Ile800Leu)
c.3493A>C (p.Ile1165Leu)
c.1466A>C
c.*789A>C (n.*789A>C)
n.4432A>C
n.3033A>C
c.3544A>C (p.Ile1182Leu)
c.3592A>C (p.Ile1198Leu)
c.3652A>C (p.Ile1218Leu)
c.3202A>C (p.Ile1068Leu)
c.1504A>C (p.Ile502Leu)
c.1321A>C (p.Ile441Leu)
c.3553A>C (p.Ile1185Leu)
c.3505A>C (p.Ile1169Leu)
c.3274A>C (p.Ile1092Leu)
c.3175A>C (p.Ile1059Leu)
c.2356A>C (p.Ile786Leu)
n.3907A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51939062T=CA2091556642ATP7Bc.*1338A= (n.*1338A=)
c.*2432A= (n.*2432A=)
c.3067A= (p.Ile1023=)
c.3688A= (p.Ile1230=)
c.3355A= (p.Ile1119=)
c.3436A= (p.Ile1146=)
n.929A=
c.3454A= (p.Ile1152=)
n.3827A=
n.554A=
c.2623A= (p.Ile875=)
c.2398A= (p.Ile800=)
c.3493A= (p.Ile1165=)
c.1466A=
c.*789A= (n.*789A=)
n.4432A=
n.3033A=
c.3544A= (p.Ile1182=)
c.3592A= (p.Ile1198=)
c.3652A= (p.Ile1218=)
c.3202A= (p.Ile1068=)
c.1504A= (p.Ile502=)
c.1321A= (p.Ile441=)
c.3553A= (p.Ile1185=)
c.3505A= (p.Ile1169=)
c.3274A= (p.Ile1092=)
c.3175A= (p.Ile1059=)
c.2356A= (p.Ile786=)
n.3907A=
13g.51939063A>CCA483893605ATP7Bc.*1337T>G (n.*1337T>G)
c.*2431T>G (n.*2431T>G)
c.3066T>G (p.Ala1022=)
c.3687T>G (p.Ala1229=)
c.3354T>G (p.Ala1118=)
c.3435T>G (p.Ala1145=)
n.928T>G
c.3453T>G (p.Ala1151=)
n.3826T>G
n.553T>G
c.2622T>G (p.Ala874=)
c.2397T>G (p.Ala799=)
c.3492T>G (p.Ala1164=)
c.1465T>G
c.*788T>G (n.*788T>G)
n.4431T>G
n.3032T>G
c.3543T>G (p.Ala1181=)
c.3591T>G (p.Ala1197=)
c.3651T>G (p.Ala1217=)
c.3201T>G (p.Ala1067=)
c.1503T>G (p.Ala501=)
c.1320T>G (p.Ala440=)
c.3552T>G (p.Ala1184=)
c.3504T>G (p.Ala1168=)
c.3273T>G (p.Ala1091=)
c.3174T>G (p.Ala1058=)
c.2355T>G (p.Ala785=)
n.3906T>G
13g.51939063A>GCA483893607ATP7Bc.*1337T>C (n.*1337T>C)
c.*2431T>C (n.*2431T>C)
c.3066T>C (p.Ala1022=)
c.3687T>C (p.Ala1229=)
c.3354T>C (p.Ala1118=)
c.3435T>C (p.Ala1145=)
n.928T>C
c.3453T>C (p.Ala1151=)
n.3826T>C
n.553T>C
c.2622T>C (p.Ala874=)
c.2397T>C (p.Ala799=)
c.3492T>C (p.Ala1164=)
c.1465T>C
c.*788T>C (n.*788T>C)
n.4431T>C
n.3032T>C
c.3543T>C (p.Ala1181=)
c.3591T>C (p.Ala1197=)
c.3651T>C (p.Ala1217=)
c.3201T>C (p.Ala1067=)
c.1503T>C (p.Ala501=)
c.1320T>C (p.Ala440=)
c.3552T>C (p.Ala1184=)
c.3504T>C (p.Ala1168=)
c.3273T>C (p.Ala1091=)
c.3174T>C (p.Ala1058=)
c.2355T>C (p.Ala785=)
n.3906T>C
 dbSNP
13g.51939063A>TCA483893609ATP7Bc.*1337T>A (n.*1337T>A)
c.*2431T>A (n.*2431T>A)
c.3066T>A (p.Ala1022=)
c.3687T>A (p.Ala1229=)
c.3354T>A (p.Ala1118=)
c.3435T>A (p.Ala1145=)
n.928T>A
c.3453T>A (p.Ala1151=)
n.3826T>A
n.553T>A
c.2622T>A (p.Ala874=)
c.2397T>A (p.Ala799=)
c.3492T>A (p.Ala1164=)
c.1465T>A
c.*788T>A (n.*788T>A)
n.4431T>A
n.3032T>A
c.3543T>A (p.Ala1181=)
c.3591T>A (p.Ala1197=)
c.3651T>A (p.Ala1217=)
c.3201T>A (p.Ala1067=)
c.1503T>A (p.Ala501=)
c.1320T>A (p.Ala440=)
c.3552T>A (p.Ala1184=)
c.3504T>A (p.Ala1168=)
c.3273T>A (p.Ala1091=)
c.3174T>A (p.Ala1058=)
c.2355T>A (p.Ala785=)
n.3906T>A
13g.51939064G>ACA388023622ATP7Bc.*1336C>T (n.*1336C>T)
c.*2430C>T (n.*2430C>T)
c.3065C>T (p.Ala1022Val)
c.3686C>T (p.Ala1229Val)
c.3353C>T (p.Ala1118Val)
c.3434C>T (p.Ala1145Val)
n.927C>T
c.3452C>T (p.Ala1151Val)
n.3825C>T
n.552C>T
c.2621C>T (p.Ala874Val)
c.2396C>T (p.Ala799Val)
c.3491C>T (p.Ala1164Val)
c.1464C>T
c.*787C>T (n.*787C>T)
n.4430C>T
n.3031C>T
c.3542C>T (p.Ala1181Val)
c.3590C>T (p.Ala1197Val)
c.3650C>T (p.Ala1217Val)
c.3200C>T (p.Ala1067Val)
c.1502C>T (p.Ala501Val)
c.1319C>T (p.Ala440Val)
c.3551C>T (p.Ala1184Val)
c.3503C>T (p.Ala1168Val)
c.3272C>T (p.Ala1091Val)
c.3173C>T (p.Ala1058Val)
c.2354C>T (p.Ala785Val)
n.3905C>T
 dbSNP gnomAD v2 gnomAD v4
13g.51939064G>CCA388023623ATP7Bc.*1336C>G (n.*1336C>G)
c.*2430C>G (n.*2430C>G)
c.3065C>G (p.Ala1022Gly)
c.3686C>G (p.Ala1229Gly)
c.3353C>G (p.Ala1118Gly)
c.3434C>G (p.Ala1145Gly)
n.927C>G
c.3452C>G (p.Ala1151Gly)
n.3825C>G
n.552C>G
c.2621C>G (p.Ala874Gly)
c.2396C>G (p.Ala799Gly)
c.3491C>G (p.Ala1164Gly)
c.1464C>G
c.*787C>G (n.*787C>G)
n.4430C>G
n.3031C>G
c.3542C>G (p.Ala1181Gly)
c.3590C>G (p.Ala1197Gly)
c.3650C>G (p.Ala1217Gly)
c.3200C>G (p.Ala1067Gly)
c.1502C>G (p.Ala501Gly)
c.1319C>G (p.Ala440Gly)
c.3551C>G (p.Ala1184Gly)
c.3503C>G (p.Ala1168Gly)
c.3272C>G (p.Ala1091Gly)
c.3173C>G (p.Ala1058Gly)
c.2354C>G (p.Ala785Gly)
n.3905C>G
13g.51939064G=CA2091556660ATP7Bc.*1336C= (n.*1336C=)
c.*2430C= (n.*2430C=)
c.3065C= (p.Ala1022=)
c.3686C= (p.Ala1229=)
c.3353C= (p.Ala1118=)
c.3434C= (p.Ala1145=)
n.927C=
c.3452C= (p.Ala1151=)
n.3825C=
n.552C=
c.2621C= (p.Ala874=)
c.2396C= (p.Ala799=)
c.3491C= (p.Ala1164=)
c.1464C=
c.*787C= (n.*787C=)
n.4430C=
n.3031C=
c.3542C= (p.Ala1181=)
c.3590C= (p.Ala1197=)
c.3650C= (p.Ala1217=)
c.3200C= (p.Ala1067=)
c.1502C= (p.Ala501=)
c.1319C= (p.Ala440=)
c.3551C= (p.Ala1184=)
c.3503C= (p.Ala1168=)
c.3272C= (p.Ala1091=)
c.3173C= (p.Ala1058=)
c.2354C= (p.Ala785=)
n.3905C=
13g.51939064G>TCA388023625ATP7Bc.*1336C>A (n.*1336C>A)
c.*2430C>A (n.*2430C>A)
c.3065C>A (p.Ala1022Asp)
c.3686C>A (p.Ala1229Asp)
c.3353C>A (p.Ala1118Asp)
c.3434C>A (p.Ala1145Asp)
n.927C>A
c.3452C>A (p.Ala1151Asp)
n.3825C>A
n.552C>A
c.2621C>A (p.Ala874Asp)
c.2396C>A (p.Ala799Asp)
c.3491C>A (p.Ala1164Asp)
c.1464C>A
c.*787C>A (n.*787C>A)
n.4430C>A
n.3031C>A
c.3542C>A (p.Ala1181Asp)
c.3590C>A (p.Ala1197Asp)
c.3650C>A (p.Ala1217Asp)
c.3200C>A (p.Ala1067Asp)
c.1502C>A (p.Ala501Asp)
c.1319C>A (p.Ala440Asp)
c.3551C>A (p.Ala1184Asp)
c.3503C>A (p.Ala1168Asp)
c.3272C>A (p.Ala1091Asp)
c.3173C>A (p.Ala1058Asp)
c.2354C>A (p.Ala785Asp)
n.3905C>A
13g.51939065C>ACA388023634ATP7Bc.*1335G>T (n.*1335G>T)
c.*2429G>T (n.*2429G>T)
c.3064G>T (p.Ala1022Ser)
c.3685G>T (p.Ala1229Ser)
c.3352G>T (p.Ala1118Ser)
c.3433G>T (p.Ala1145Ser)
n.926G>T
c.3451G>T (p.Ala1151Ser)
n.3824G>T
n.551G>T
c.2620G>T (p.Ala874Ser)
c.2395G>T (p.Ala799Ser)
c.3490G>T (p.Ala1164Ser)
c.1463G>T
c.*786G>T (n.*786G>T)
n.4429G>T
n.3030G>T
c.3541G>T (p.Ala1181Ser)
c.3589G>T (p.Ala1197Ser)
c.3649G>T (p.Ala1217Ser)
c.3199G>T (p.Ala1067Ser)
c.1501G>T (p.Ala501Ser)
c.1318G>T (p.Ala440Ser)
c.3550G>T (p.Ala1184Ser)
c.3502G>T (p.Ala1168Ser)
c.3271G>T (p.Ala1091Ser)
c.3172G>T (p.Ala1058Ser)
c.2353G>T (p.Ala785Ser)
n.3904G>T
13g.51939065C>GCA388023632ATP7Bc.*1335G>C (n.*1335G>C)
c.*2429G>C (n.*2429G>C)
c.3064G>C (p.Ala1022Pro)
c.3685G>C (p.Ala1229Pro)
c.3352G>C (p.Ala1118Pro)
c.3433G>C (p.Ala1145Pro)
n.926G>C
c.3451G>C (p.Ala1151Pro)
n.3824G>C
n.551G>C
c.2620G>C (p.Ala874Pro)
c.2395G>C (p.Ala799Pro)
c.3490G>C (p.Ala1164Pro)
c.1463G>C
c.*786G>C (n.*786G>C)
n.4429G>C
n.3030G>C
c.3541G>C (p.Ala1181Pro)
c.3589G>C (p.Ala1197Pro)
c.3649G>C (p.Ala1217Pro)
c.3199G>C (p.Ala1067Pro)
c.1501G>C (p.Ala501Pro)
c.1318G>C (p.Ala440Pro)
c.3550G>C (p.Ala1184Pro)
c.3502G>C (p.Ala1168Pro)
c.3271G>C (p.Ala1091Pro)
c.3172G>C (p.Ala1058Pro)
c.2353G>C (p.Ala785Pro)
n.3904G>C
13g.51939065C>TCA388023628ATP7Bc.*1335G>A (n.*1335G>A)
c.*2429G>A (n.*2429G>A)
c.3064G>A (p.Ala1022Thr)
c.3685G>A (p.Ala1229Thr)
c.3352G>A (p.Ala1118Thr)
c.3433G>A (p.Ala1145Thr)
n.926G>A
c.3451G>A (p.Ala1151Thr)
n.3824G>A
n.551G>A
c.2620G>A (p.Ala874Thr)
c.2395G>A (p.Ala799Thr)
c.3490G>A (p.Ala1164Thr)
c.1463G>A
c.*786G>A (n.*786G>A)
n.4429G>A
n.3030G>A
c.3541G>A (p.Ala1181Thr)
c.3589G>A (p.Ala1197Thr)
c.3649G>A (p.Ala1217Thr)
c.3199G>A (p.Ala1067Thr)
c.1501G>A (p.Ala501Thr)
c.1318G>A (p.Ala440Thr)
c.3550G>A (p.Ala1184Thr)
c.3502G>A (p.Ala1168Thr)
c.3271G>A (p.Ala1091Thr)
c.3172G>A (p.Ala1058Thr)
c.2353G>A (p.Ala785Thr)
n.3904G>A
13g.51939066T>ACA388023641ATP7Bc.*1334A>T (n.*1334A>T)
c.*2428A>T (n.*2428A>T)
c.3063A>T (p.Arg1021Ser)
c.3684A>T (p.Arg1228Ser)
c.3351A>T (p.Arg1117Ser)
c.3432A>T (p.Arg1144Ser)
n.925A>T
c.3450A>T (p.Arg1150Ser)
n.3823A>T
n.550A>T
c.2619A>T (p.Arg873Ser)
c.2394A>T (p.Arg798Ser)
c.3489A>T (p.Arg1163Ser)
c.1462A>T
c.*785A>T (n.*785A>T)
n.4428A>T
n.3029A>T
c.3540A>T (p.Arg1180Ser)
c.3588A>T (p.Arg1196Ser)
c.3648A>T (p.Arg1216Ser)
c.3198A>T (p.Arg1066Ser)
c.1500A>T (p.Arg500Ser)
c.1317A>T (p.Arg439Ser)
c.3549A>T (p.Arg1183Ser)
c.3501A>T (p.Arg1167Ser)
c.3270A>T (p.Arg1090Ser)
c.3171A>T (p.Arg1057Ser)
c.2352A>T (p.Arg784Ser)
n.3903A>T
13g.51939066T>CCA483893619ATP7Bc.*1334A>G (n.*1334A>G)
c.*2428A>G (n.*2428A>G)
c.3063A>G (p.Arg1021=)
c.3684A>G (p.Arg1228=)
c.3351A>G (p.Arg1117=)
c.3432A>G (p.Arg1144=)
n.925A>G
c.3450A>G (p.Arg1150=)
n.3823A>G
n.550A>G
c.2619A>G (p.Arg873=)
c.2394A>G (p.Arg798=)
c.3489A>G (p.Arg1163=)
c.1462A>G
c.*785A>G (n.*785A>G)
n.4428A>G
n.3029A>G
c.3540A>G (p.Arg1180=)
c.3588A>G (p.Arg1196=)
c.3648A>G (p.Arg1216=)
c.3198A>G (p.Arg1066=)
c.1500A>G (p.Arg500=)
c.1317A>G (p.Arg439=)
c.3549A>G (p.Arg1183=)
c.3501A>G (p.Arg1167=)
c.3270A>G (p.Arg1090=)
c.3171A>G (p.Arg1057=)
c.2352A>G (p.Arg784=)
n.3903A>G
13g.51939066T>GCA388023644ATP7Bc.*1334A>C (n.*1334A>C)
c.*2428A>C (n.*2428A>C)
c.3063A>C (p.Arg1021Ser)
c.3684A>C (p.Arg1228Ser)
c.3351A>C (p.Arg1117Ser)
c.3432A>C (p.Arg1144Ser)
n.925A>C
c.3450A>C (p.Arg1150Ser)
n.3823A>C
n.550A>C
c.2619A>C (p.Arg873Ser)
c.2394A>C (p.Arg798Ser)
c.3489A>C (p.Arg1163Ser)
c.1462A>C
c.*785A>C (n.*785A>C)
n.4428A>C
n.3029A>C
c.3540A>C (p.Arg1180Ser)
c.3588A>C (p.Arg1196Ser)
c.3648A>C (p.Arg1216Ser)
c.3198A>C (p.Arg1066Ser)
c.1500A>C (p.Arg500Ser)
c.1317A>C (p.Arg439Ser)
c.3549A>C (p.Arg1183Ser)
c.3501A>C (p.Arg1167Ser)
c.3270A>C (p.Arg1090Ser)
c.3171A>C (p.Arg1057Ser)
c.2352A>C (p.Arg784Ser)
n.3903A>C
13g.51939067C>ACA388023646ATP7Bc.*1333G>T (n.*1333G>T)
c.*2427G>T (n.*2427G>T)
c.3062G>T (p.Arg1021Ile)
c.3683G>T (p.Arg1228Ile)
c.3350G>T (p.Arg1117Ile)
c.3431G>T (p.Arg1144Ile)
n.924G>T
c.3449G>T (p.Arg1150Ile)
n.3822G>T
n.549G>T
c.2618G>T (p.Arg873Ile)
c.2393G>T (p.Arg798Ile)
c.3488G>T (p.Arg1163Ile)
c.1461G>T
c.*784G>T (n.*784G>T)
n.4427G>T
n.3028G>T
c.3539G>T (p.Arg1180Ile)
c.3587G>T (p.Arg1196Ile)
c.3647G>T (p.Arg1216Ile)
c.3197G>T (p.Arg1066Ile)
c.1499G>T (p.Arg500Ile)
c.1316G>T (p.Arg439Ile)
c.3548G>T (p.Arg1183Ile)
c.3500G>T (p.Arg1167Ile)
c.3269G>T (p.Arg1090Ile)
c.3170G>T (p.Arg1057Ile)
c.2351G>T (p.Arg784Ile)
n.3902G>T
13g.51939067C>GCA388023647ATP7Bc.*1333G>C (n.*1333G>C)
c.*2427G>C (n.*2427G>C)
c.3062G>C (p.Arg1021Thr)
c.3683G>C (p.Arg1228Thr)
c.3350G>C (p.Arg1117Thr)
c.3431G>C (p.Arg1144Thr)
n.924G>C
c.3449G>C (p.Arg1150Thr)
n.3822G>C
n.549G>C
c.2618G>C (p.Arg873Thr)
c.2393G>C (p.Arg798Thr)
c.3488G>C (p.Arg1163Thr)
c.1461G>C
c.*784G>C (n.*784G>C)
n.4427G>C
n.3028G>C
c.3539G>C (p.Arg1180Thr)
c.3587G>C (p.Arg1196Thr)
c.3647G>C (p.Arg1216Thr)
c.3197G>C (p.Arg1066Thr)
c.1499G>C (p.Arg500Thr)
c.1316G>C (p.Arg439Thr)
c.3548G>C (p.Arg1183Thr)
c.3500G>C (p.Arg1167Thr)
c.3269G>C (p.Arg1090Thr)
c.3170G>C (p.Arg1057Thr)
c.2351G>C (p.Arg784Thr)
n.3902G>C
 gnomAD v4
13g.51939067C>TCA388023651ATP7Bc.*1333G>A (n.*1333G>A)
c.*2427G>A (n.*2427G>A)
c.3062G>A (p.Arg1021Lys)
c.3683G>A (p.Arg1228Lys)
c.3350G>A (p.Arg1117Lys)
c.3431G>A (p.Arg1144Lys)
n.924G>A
c.3449G>A (p.Arg1150Lys)
n.3822G>A
n.549G>A
c.2618G>A (p.Arg873Lys)
c.2393G>A (p.Arg798Lys)
c.3488G>A (p.Arg1163Lys)
c.1461G>A
c.*784G>A (n.*784G>A)
n.4427G>A
n.3028G>A
c.3539G>A (p.Arg1180Lys)
c.3587G>A (p.Arg1196Lys)
c.3647G>A (p.Arg1216Lys)
c.3197G>A (p.Arg1066Lys)
c.1499G>A (p.Arg500Lys)
c.1316G>A (p.Arg439Lys)
c.3548G>A (p.Arg1183Lys)
c.3500G>A (p.Arg1167Lys)
c.3269G>A (p.Arg1090Lys)
c.3170G>A (p.Arg1057Lys)
c.2351G>A (p.Arg784Lys)
n.3902G>A
13g.51939068T>ACA388023656ATP7Bc.*1332A>T (n.*1332A>T)
c.*2426A>T (n.*2426A>T)
c.3061A>T (p.Arg1021Ter)
c.3682A>T (p.Arg1228Ter)
c.3349A>T (p.Arg1117Ter)
c.3430A>T (p.Arg1144Ter)
n.923A>T
c.3448A>T (p.Arg1150Ter)
n.3821A>T
n.548A>T
c.2617A>T (p.Arg873Ter)
c.2392A>T (p.Arg798Ter)
c.3487A>T (p.Arg1163Ter)
c.1460A>T
c.*783A>T (n.*783A>T)
n.4426A>T
n.3027A>T
c.3538A>T (p.Arg1180Ter)
c.3586A>T (p.Arg1196Ter)
c.3646A>T (p.Arg1216Ter)
c.3196A>T (p.Arg1066Ter)
c.1498A>T (p.Arg500Ter)
c.1315A>T (p.Arg439Ter)
c.3547A>T (p.Arg1183Ter)
c.3499A>T (p.Arg1167Ter)
c.3268A>T (p.Arg1090Ter)
c.3169A>T (p.Arg1057Ter)
c.2350A>T (p.Arg784Ter)
n.3901A>T
13g.51939068T>CCA388023660ATP7Bc.*1332A>G (n.*1332A>G)
c.*2426A>G (n.*2426A>G)
c.3061A>G (p.Arg1021Gly)
c.3682A>G (p.Arg1228Gly)
c.3349A>G (p.Arg1117Gly)
c.3430A>G (p.Arg1144Gly)
n.923A>G
c.3448A>G (p.Arg1150Gly)
n.3821A>G
n.548A>G
c.2617A>G (p.Arg873Gly)
c.2392A>G (p.Arg798Gly)
c.3487A>G (p.Arg1163Gly)
c.1460A>G
c.*783A>G (n.*783A>G)
n.4426A>G
n.3027A>G
c.3538A>G (p.Arg1180Gly)
c.3586A>G (p.Arg1196Gly)
c.3646A>G (p.Arg1216Gly)
c.3196A>G (p.Arg1066Gly)
c.1498A>G (p.Arg500Gly)
c.1315A>G (p.Arg439Gly)
c.3547A>G (p.Arg1183Gly)
c.3499A>G (p.Arg1167Gly)
c.3268A>G (p.Arg1090Gly)
c.3169A>G (p.Arg1057Gly)
c.2350A>G (p.Arg784Gly)
n.3901A>G
13g.51939068T>GCA483893625ATP7Bc.*1332A>C (n.*1332A>C)
c.*2426A>C (n.*2426A>C)
c.3061A>C (p.Arg1021=)
c.3682A>C (p.Arg1228=)
c.3349A>C (p.Arg1117=)
c.3430A>C (p.Arg1144=)
n.923A>C
c.3448A>C (p.Arg1150=)
n.3821A>C
n.548A>C
c.2617A>C (p.Arg873=)
c.2392A>C (p.Arg798=)
c.3487A>C (p.Arg1163=)
c.1460A>C
c.*783A>C (n.*783A>C)
n.4426A>C
n.3027A>C
c.3538A>C (p.Arg1180=)
c.3586A>C (p.Arg1196=)
c.3646A>C (p.Arg1216=)
c.3196A>C (p.Arg1066=)
c.1498A>C (p.Arg500=)
c.1315A>C (p.Arg439=)
c.3547A>C (p.Arg1183=)
c.3499A>C (p.Arg1167=)
c.3268A>C (p.Arg1090=)
c.3169A>C (p.Arg1057=)
c.2350A>C (p.Arg784=)
n.3901A>C
13g.51939069G>ACA483893630ATP7Bc.*1331C>T (n.*1331C>T)
c.*2425C>T (n.*2425C>T)
c.3060C>T (p.Ala1020=)
c.3681C>T (p.Ala1227=)
c.3348C>T (p.Ala1116=)
c.3429C>T (p.Ala1143=)
n.922C>T
c.3447C>T (p.Ala1149=)
n.3820C>T
n.547C>T
c.2616C>T (p.Ala872=)
c.2391C>T (p.Ala797=)
c.3486C>T (p.Ala1162=)
c.1459C>T
c.*782C>T (n.*782C>T)
n.4425C>T
n.3026C>T
c.3537C>T (p.Ala1179=)
c.3585C>T (p.Ala1195=)
c.3645C>T (p.Ala1215=)
c.3195C>T (p.Ala1065=)
c.1497C>T (p.Ala499=)
c.1314C>T (p.Ala438=)
c.3546C>T (p.Ala1182=)
c.3498C>T (p.Ala1166=)
c.3267C>T (p.Ala1089=)
c.3168C>T (p.Ala1056=)
c.2349C>T (p.Ala783=)
n.3900C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51939069G>CCA483893631ATP7Bc.*1331C>G (n.*1331C>G)
c.*2425C>G (n.*2425C>G)
c.3060C>G (p.Ala1020=)
c.3681C>G (p.Ala1227=)
c.3348C>G (p.Ala1116=)
c.3429C>G (p.Ala1143=)
n.922C>G
c.3447C>G (p.Ala1149=)
n.3820C>G
n.547C>G
c.2616C>G (p.Ala872=)
c.2391C>G (p.Ala797=)
c.3486C>G (p.Ala1162=)
c.1459C>G
c.*782C>G (n.*782C>G)
n.4425C>G
n.3026C>G
c.3537C>G (p.Ala1179=)
c.3585C>G (p.Ala1195=)
c.3645C>G (p.Ala1215=)
c.3195C>G (p.Ala1065=)
c.1497C>G (p.Ala499=)
c.1314C>G (p.Ala438=)
c.3546C>G (p.Ala1182=)
c.3498C>G (p.Ala1166=)
c.3267C>G (p.Ala1089=)
c.3168C>G (p.Ala1056=)
c.2349C>G (p.Ala783=)
n.3900C>G
13g.51939069G=CA2091556666ATP7Bc.*1331C= (n.*1331C=)
c.*2425C= (n.*2425C=)
c.3060C= (p.Ala1020=)
c.3681C= (p.Ala1227=)
c.3348C= (p.Ala1116=)
c.3429C= (p.Ala1143=)
n.922C=
c.3447C= (p.Ala1149=)
n.3820C=
n.547C=
c.2616C= (p.Ala872=)
c.2391C= (p.Ala797=)
c.3486C= (p.Ala1162=)
c.1459C=
c.*782C= (n.*782C=)
n.4425C=
n.3026C=
c.3537C= (p.Ala1179=)
c.3585C= (p.Ala1195=)
c.3645C= (p.Ala1215=)
c.3195C= (p.Ala1065=)
c.1497C= (p.Ala499=)
c.1314C= (p.Ala438=)
c.3546C= (p.Ala1182=)
c.3498C= (p.Ala1166=)
c.3267C= (p.Ala1089=)
c.3168C= (p.Ala1056=)
c.2349C= (p.Ala783=)
n.3900C=
13g.51939069G>TCA483893633ATP7Bc.*1331C>A (n.*1331C>A)
c.*2425C>A (n.*2425C>A)
c.3060C>A (p.Ala1020=)
c.3681C>A (p.Ala1227=)
c.3348C>A (p.Ala1116=)
c.3429C>A (p.Ala1143=)
n.922C>A
c.3447C>A (p.Ala1149=)
n.3820C>A
n.547C>A
c.2616C>A (p.Ala872=)
c.2391C>A (p.Ala797=)
c.3486C>A (p.Ala1162=)
c.1459C>A
c.*782C>A (n.*782C>A)
n.4425C>A
n.3026C>A
c.3537C>A (p.Ala1179=)
c.3585C>A (p.Ala1195=)
c.3645C>A (p.Ala1215=)
c.3195C>A (p.Ala1065=)
c.1497C>A (p.Ala499=)
c.1314C>A (p.Ala438=)
c.3546C>A (p.Ala1182=)
c.3498C>A (p.Ala1166=)
c.3267C>A (p.Ala1089=)
c.3168C>A (p.Ala1056=)
c.2349C>A (p.Ala783=)
n.3900C>A
13g.51939070G>ACA388023671ATP7Bc.*1330C>T (n.*1330C>T)
c.*2424C>T (n.*2424C>T)
c.3059C>T (p.Ala1020Val)
c.3680C>T (p.Ala1227Val)
c.3347C>T (p.Ala1116Val)
c.3428C>T (p.Ala1143Val)
n.921C>T
c.3446C>T (p.Ala1149Val)
n.3819C>T
n.546C>T
c.2615C>T (p.Ala872Val)
c.2390C>T (p.Ala797Val)
c.3485C>T (p.Ala1162Val)
c.1458C>T
c.*781C>T (n.*781C>T)
n.4424C>T
n.3025C>T
c.3536C>T (p.Ala1179Val)
c.3584C>T (p.Ala1195Val)
c.3644C>T (p.Ala1215Val)
c.3194C>T (p.Ala1065Val)
c.1496C>T (p.Ala499Val)
c.1313C>T (p.Ala438Val)
c.3545C>T (p.Ala1182Val)
c.3497C>T (p.Ala1166Val)
c.3266C>T (p.Ala1089Val)
c.3167C>T (p.Ala1056Val)
c.2348C>T (p.Ala783Val)
n.3899C>T
13g.51939070G>CCA388023674ATP7Bc.*1330C>G (n.*1330C>G)
c.*2424C>G (n.*2424C>G)
c.3059C>G (p.Ala1020Gly)
c.3680C>G (p.Ala1227Gly)
c.3347C>G (p.Ala1116Gly)
c.3428C>G (p.Ala1143Gly)
n.921C>G
c.3446C>G (p.Ala1149Gly)
n.3819C>G
n.546C>G
c.2615C>G (p.Ala872Gly)
c.2390C>G (p.Ala797Gly)
c.3485C>G (p.Ala1162Gly)
c.1458C>G
c.*781C>G (n.*781C>G)
n.4424C>G
n.3025C>G
c.3536C>G (p.Ala1179Gly)
c.3584C>G (p.Ala1195Gly)
c.3644C>G (p.Ala1215Gly)
c.3194C>G (p.Ala1065Gly)
c.1496C>G (p.Ala499Gly)
c.1313C>G (p.Ala438Gly)
c.3545C>G (p.Ala1182Gly)
c.3497C>G (p.Ala1166Gly)
c.3266C>G (p.Ala1089Gly)
c.3167C>G (p.Ala1056Gly)
c.2348C>G (p.Ala783Gly)
n.3899C>G
13g.51939070G=CA2091556668ATP7Bc.*1330C= (n.*1330C=)
c.*2424C= (n.*2424C=)
c.3059C= (p.Ala1020=)
c.3680C= (p.Ala1227=)
c.3347C= (p.Ala1116=)
c.3428C= (p.Ala1143=)
n.921C=
c.3446C= (p.Ala1149=)
n.3819C=
n.546C=
c.2615C= (p.Ala872=)
c.2390C= (p.Ala797=)
c.3485C= (p.Ala1162=)
c.1458C=
c.*781C= (n.*781C=)
n.4424C=
n.3025C=
c.3536C= (p.Ala1179=)
c.3584C= (p.Ala1195=)
c.3644C= (p.Ala1215=)
c.3194C= (p.Ala1065=)
c.1496C= (p.Ala499=)
c.1313C= (p.Ala438=)
c.3545C= (p.Ala1182=)
c.3497C= (p.Ala1166=)
c.3266C= (p.Ala1089=)
c.3167C= (p.Ala1056=)
c.2348C= (p.Ala783=)
n.3899C=
13g.51939070G>TCA388023675ATP7Bc.*1330C>A (n.*1330C>A)
c.*2424C>A (n.*2424C>A)
c.3059C>A (p.Ala1020Asp)
c.3680C>A (p.Ala1227Asp)
c.3347C>A (p.Ala1116Asp)
c.3428C>A (p.Ala1143Asp)
n.921C>A
c.3446C>A (p.Ala1149Asp)
n.3819C>A
n.546C>A
c.2615C>A (p.Ala872Asp)
c.2390C>A (p.Ala797Asp)
c.3485C>A (p.Ala1162Asp)
c.1458C>A
c.*781C>A (n.*781C>A)
n.4424C>A
n.3025C>A
c.3536C>A (p.Ala1179Asp)
c.3584C>A (p.Ala1195Asp)
c.3644C>A (p.Ala1215Asp)
c.3194C>A (p.Ala1065Asp)
c.1496C>A (p.Ala499Asp)
c.1313C>A (p.Ala438Asp)
c.3545C>A (p.Ala1182Asp)
c.3497C>A (p.Ala1166Asp)
c.3266C>A (p.Ala1089Asp)
c.3167C>A (p.Ala1056Asp)
c.2348C>A (p.Ala783Asp)
n.3899C>A
 ClinVar dbSNP
13g.51939071C>ACA388023676ATP7Bc.*1329G>T (n.*1329G>T)
c.*2423G>T (n.*2423G>T)
c.3058G>T (p.Ala1020Ser)
c.3679G>T (p.Ala1227Ser)
c.3346G>T (p.Ala1116Ser)
c.3427G>T (p.Ala1143Ser)
n.920G>T
c.3445G>T (p.Ala1149Ser)
n.3818G>T
n.545G>T
c.2614G>T (p.Ala872Ser)
c.2389G>T (p.Ala797Ser)
c.3484G>T (p.Ala1162Ser)
c.1457G>T
c.*780G>T (n.*780G>T)
n.4423G>T
n.3024G>T
c.3535G>T (p.Ala1179Ser)
c.3583G>T (p.Ala1195Ser)
c.3643G>T (p.Ala1215Ser)
c.3193G>T (p.Ala1065Ser)
c.1495G>T (p.Ala499Ser)
c.1312G>T (p.Ala438Ser)
c.3544G>T (p.Ala1182Ser)
c.3496G>T (p.Ala1166Ser)
c.3265G>T (p.Ala1089Ser)
c.3166G>T (p.Ala1056Ser)
c.2347G>T (p.Ala783Ser)
n.3898G>T
13g.51939071C=CA2091556671ATP7Bc.*1329G= (n.*1329G=)
c.*2423G= (n.*2423G=)
c.3058G= (p.Ala1020=)
c.3679G= (p.Ala1227=)
c.3346G= (p.Ala1116=)
c.3427G= (p.Ala1143=)
n.920G=
c.3445G= (p.Ala1149=)
n.3818G=
n.545G=
c.2614G= (p.Ala872=)
c.2389G= (p.Ala797=)
c.3484G= (p.Ala1162=)
c.1457G=
c.*780G= (n.*780G=)
n.4423G=
n.3024G=
c.3535G= (p.Ala1179=)
c.3583G= (p.Ala1195=)
c.3643G= (p.Ala1215=)
c.3193G= (p.Ala1065=)
c.1495G= (p.Ala499=)
c.1312G= (p.Ala438=)
c.3544G= (p.Ala1182=)
c.3496G= (p.Ala1166=)
c.3265G= (p.Ala1089=)
c.3166G= (p.Ala1056=)
c.2347G= (p.Ala783=)
n.3898G=
13g.51939071C>GCA388023677ATP7Bc.*1329G>C (n.*1329G>C)
c.*2423G>C (n.*2423G>C)
c.3058G>C (p.Ala1020Pro)
c.3679G>C (p.Ala1227Pro)
c.3346G>C (p.Ala1116Pro)
c.3427G>C (p.Ala1143Pro)
n.920G>C
c.3445G>C (p.Ala1149Pro)
n.3818G>C
n.545G>C
c.2614G>C (p.Ala872Pro)
c.2389G>C (p.Ala797Pro)
c.3484G>C (p.Ala1162Pro)
c.1457G>C
c.*780G>C (n.*780G>C)
n.4423G>C
n.3024G>C
c.3535G>C (p.Ala1179Pro)
c.3583G>C (p.Ala1195Pro)
c.3643G>C (p.Ala1215Pro)
c.3193G>C (p.Ala1065Pro)
c.1495G>C (p.Ala499Pro)
c.1312G>C (p.Ala438Pro)
c.3544G>C (p.Ala1182Pro)
c.3496G>C (p.Ala1166Pro)
c.3265G>C (p.Ala1089Pro)
c.3166G>C (p.Ala1056Pro)
c.2347G>C (p.Ala783Pro)
n.3898G>C
13g.51939071C>TCA388023679ATP7Bc.*1329G>A (n.*1329G>A)
c.*2423G>A (n.*2423G>A)
c.3058G>A (p.Ala1020Thr)
c.3679G>A (p.Ala1227Thr)
c.3346G>A (p.Ala1116Thr)
c.3427G>A (p.Ala1143Thr)
n.920G>A
c.3445G>A (p.Ala1149Thr)
n.3818G>A
n.545G>A
c.2614G>A (p.Ala872Thr)
c.2389G>A (p.Ala797Thr)
c.3484G>A (p.Ala1162Thr)
c.1457G>A
c.*780G>A (n.*780G>A)
n.4423G>A
n.3024G>A
c.3535G>A (p.Ala1179Thr)
c.3583G>A (p.Ala1195Thr)
c.3643G>A (p.Ala1215Thr)
c.3193G>A (p.Ala1065Thr)
c.1495G>A (p.Ala499Thr)
c.1312G>A (p.Ala438Thr)
c.3544G>A (p.Ala1182Thr)
c.3496G>A (p.Ala1166Thr)
c.3265G>A (p.Ala1089Thr)
c.3166G>A (p.Ala1056Thr)
c.2347G>A (p.Ala783Thr)
n.3898G>A
 ClinVar dbSNP gnomAD v4
13g.51939072T>ACA483893639ATP7Bc.*1328A>T (n.*1328A>T)
c.*2422A>T (n.*2422A>T)
c.3057A>T (p.Thr1019=)
c.3678A>T (p.Thr1226=)
c.3345A>T (p.Thr1115=)
c.3426A>T (p.Thr1142=)
n.919A>T
c.3444A>T (p.Thr1148=)
n.3817A>T
n.544A>T
c.2613A>T (p.Thr871=)
c.2388A>T (p.Thr796=)
c.3483A>T (p.Thr1161=)
c.1456A>T
c.*779A>T (n.*779A>T)
n.4422A>T
n.3023A>T
c.3534A>T (p.Thr1178=)
c.3582A>T (p.Thr1194=)
c.3642A>T (p.Thr1214=)
c.3192A>T (p.Thr1064=)
c.1494A>T (p.Thr498=)
c.1311A>T (p.Thr437=)
c.3543A>T (p.Thr1181=)
c.3495A>T (p.Thr1165=)
c.3264A>T (p.Thr1088=)
c.3165A>T (p.Thr1055=)
c.2346A>T (p.Thr782=)
n.3897A>T
13g.51939072T>CCA483893641ATP7Bc.*1328A>G (n.*1328A>G)
c.*2422A>G (n.*2422A>G)
c.3057A>G (p.Thr1019=)
c.3678A>G (p.Thr1226=)
c.3345A>G (p.Thr1115=)
c.3426A>G (p.Thr1142=)
n.919A>G
c.3444A>G (p.Thr1148=)
n.3817A>G
n.544A>G
c.2613A>G (p.Thr871=)
c.2388A>G (p.Thr796=)
c.3483A>G (p.Thr1161=)
c.1456A>G
c.*779A>G (n.*779A>G)
n.4422A>G
n.3023A>G
c.3534A>G (p.Thr1178=)
c.3582A>G (p.Thr1194=)
c.3642A>G (p.Thr1214=)
c.3192A>G (p.Thr1064=)
c.1494A>G (p.Thr498=)
c.1311A>G (p.Thr437=)
c.3543A>G (p.Thr1181=)
c.3495A>G (p.Thr1165=)
c.3264A>G (p.Thr1088=)
c.3165A>G (p.Thr1055=)
c.2346A>G (p.Thr782=)
n.3897A>G
 gnomAD v4
13g.51939072T>GCA483893642ATP7Bc.*1328A>C (n.*1328A>C)
c.*2422A>C (n.*2422A>C)
c.3057A>C (p.Thr1019=)
c.3678A>C (p.Thr1226=)
c.3345A>C (p.Thr1115=)
c.3426A>C (p.Thr1142=)
n.919A>C
c.3444A>C (p.Thr1148=)
n.3817A>C
n.544A>C
c.2613A>C (p.Thr871=)
c.2388A>C (p.Thr796=)
c.3483A>C (p.Thr1161=)
c.1456A>C
c.*779A>C (n.*779A>C)
n.4422A>C
n.3023A>C
c.3534A>C (p.Thr1178=)
c.3582A>C (p.Thr1194=)
c.3642A>C (p.Thr1214=)
c.3192A>C (p.Thr1064=)
c.1494A>C (p.Thr498=)
c.1311A>C (p.Thr437=)
c.3543A>C (p.Thr1181=)
c.3495A>C (p.Thr1165=)
c.3264A>C (p.Thr1088=)
c.3165A>C (p.Thr1055=)
c.2346A>C (p.Thr782=)
n.3897A>C
 ClinVar gnomAD v4
13g.51939073G>ACA388023684ATP7Bc.*1327C>T (n.*1327C>T)
c.*2421C>T (n.*2421C>T)
c.3056C>T (p.Thr1019Ile)
c.3677C>T (p.Thr1226Ile)
c.3344C>T (p.Thr1115Ile)
c.3425C>T (p.Thr1142Ile)
n.918C>T
c.3443C>T (p.Thr1148Ile)
n.3816C>T
n.543C>T
c.2612C>T (p.Thr871Ile)
c.2387C>T (p.Thr796Ile)
c.3482C>T (p.Thr1161Ile)
c.1455C>T
c.*778C>T (n.*778C>T)
n.4421C>T
n.3022C>T
c.3533C>T (p.Thr1178Ile)
c.3581C>T (p.Thr1194Ile)
c.3641C>T (p.Thr1214Ile)
c.3191C>T (p.Thr1064Ile)
c.1493C>T (p.Thr498Ile)
c.1310C>T (p.Thr437Ile)
c.3542C>T (p.Thr1181Ile)
c.3494C>T (p.Thr1165Ile)
c.3263C>T (p.Thr1088Ile)
c.3164C>T (p.Thr1055Ile)
c.2345C>T (p.Thr782Ile)
n.3896C>T
13g.51939073G>CCA388023680ATP7Bc.*1327C>G (n.*1327C>G)
c.*2421C>G (n.*2421C>G)
c.3056C>G (p.Thr1019Arg)
c.3677C>G (p.Thr1226Arg)
c.3344C>G (p.Thr1115Arg)
c.3425C>G (p.Thr1142Arg)
n.918C>G
c.3443C>G (p.Thr1148Arg)
n.3816C>G
n.543C>G
c.2612C>G (p.Thr871Arg)
c.2387C>G (p.Thr796Arg)
c.3482C>G (p.Thr1161Arg)
c.1455C>G
c.*778C>G (n.*778C>G)
n.4421C>G
n.3022C>G
c.3533C>G (p.Thr1178Arg)
c.3581C>G (p.Thr1194Arg)
c.3641C>G (p.Thr1214Arg)
c.3191C>G (p.Thr1064Arg)
c.1493C>G (p.Thr498Arg)
c.1310C>G (p.Thr437Arg)
c.3542C>G (p.Thr1181Arg)
c.3494C>G (p.Thr1165Arg)
c.3263C>G (p.Thr1088Arg)
c.3164C>G (p.Thr1055Arg)
c.2345C>G (p.Thr782Arg)
n.3896C>G
13g.51939073G>TCA388023683ATP7Bc.*1327C>A (n.*1327C>A)
c.*2421C>A (n.*2421C>A)
c.3056C>A (p.Thr1019Lys)
c.3677C>A (p.Thr1226Lys)
c.3344C>A (p.Thr1115Lys)
c.3425C>A (p.Thr1142Lys)
n.918C>A
c.3443C>A (p.Thr1148Lys)
n.3816C>A
n.543C>A
c.2612C>A (p.Thr871Lys)
c.2387C>A (p.Thr796Lys)
c.3482C>A (p.Thr1161Lys)
c.1455C>A
c.*778C>A (n.*778C>A)
n.4421C>A
n.3022C>A
c.3533C>A (p.Thr1178Lys)
c.3581C>A (p.Thr1194Lys)
c.3641C>A (p.Thr1214Lys)
c.3191C>A (p.Thr1064Lys)
c.1493C>A (p.Thr498Lys)
c.1310C>A (p.Thr437Lys)
c.3542C>A (p.Thr1181Lys)
c.3494C>A (p.Thr1165Lys)
c.3263C>A (p.Thr1088Lys)
c.3164C>A (p.Thr1055Lys)
c.2345C>A (p.Thr782Lys)
n.3896C>A
13g.51939073_51939076delinsGTCTCA2091556676ATP7Bc.*1324_*1327delinsAGAC (n.*1324_*1327delinsAGAC)
c.*2418_*2421delinsAGAC (n.*2418_*2421delinsAGAC)
c.3053_3056delinsAGAC (p.Lys1018=)
c.3674_3677delinsAGAC (p.Lys1225=)
c.3341_3344delinsAGAC (p.Lys1114=)
c.3422_3425delinsAGAC (p.Lys1141=)
n.915_918delinsAGAC
c.3440_3443delinsAGAC (p.Lys1147=)
n.3813_3816delinsAGAC
n.540_543delinsAGAC
c.2609_2612delinsAGAC (p.Lys870=)
c.2384_2387delinsAGAC (p.Lys795=)
c.3479_3482delinsAGAC (p.Lys1160=)
c.1452_1455delinsAGAC
c.*775_*778delinsAGAC (n.*775_*778delinsAGAC)
n.4418_4421delinsAGAC
n.3019_3022delinsAGAC
c.3530_3533delinsAGAC (p.Lys1177=)
c.3578_3581delinsAGAC (p.Lys1193=)
c.3638_3641delinsAGAC (p.Lys1213=)
c.3188_3191delinsAGAC (p.Lys1063=)
c.1490_1493delinsAGAC (p.Lys497=)
c.1307_1310delinsAGAC (p.Lys436=)
c.3539_3542delinsAGAC (p.Lys1180=)
c.3491_3494delinsAGAC (p.Lys1164=)
c.3260_3263delinsAGAC (p.Lys1087=)
c.3161_3164delinsAGAC (p.Lys1054=)
c.2342_2345delinsAGAC (p.Lys781=)
n.3893_3896delinsAGAC
13g.51939074T>ACA388023687ATP7Bc.*1326A>T (n.*1326A>T)
c.*2420A>T (n.*2420A>T)
c.3055A>T (p.Thr1019Ser)
c.3676A>T (p.Thr1226Ser)
c.3343A>T (p.Thr1115Ser)
c.3424A>T (p.Thr1142Ser)
n.917A>T
c.3442A>T (p.Thr1148Ser)
n.3815A>T
n.542A>T
c.2611A>T (p.Thr871Ser)
c.2386A>T (p.Thr796Ser)
c.3481A>T (p.Thr1161Ser)
c.1454A>T
c.*777A>T (n.*777A>T)
n.4420A>T
n.3021A>T
c.3532A>T (p.Thr1178Ser)
c.3580A>T (p.Thr1194Ser)
c.3640A>T (p.Thr1214Ser)
c.3190A>T (p.Thr1064Ser)
c.1492A>T (p.Thr498Ser)
c.1309A>T (p.Thr437Ser)
c.3541A>T (p.Thr1181Ser)
c.3493A>T (p.Thr1165Ser)
c.3262A>T (p.Thr1088Ser)
c.3163A>T (p.Thr1055Ser)
c.2344A>T (p.Thr782Ser)
n.3895A>T
13g.51939074T>CCA388023689ATP7Bc.*1326A>G (n.*1326A>G)
c.*2420A>G (n.*2420A>G)
c.3055A>G (p.Thr1019Ala)
c.3676A>G (p.Thr1226Ala)
c.3343A>G (p.Thr1115Ala)
c.3424A>G (p.Thr1142Ala)
n.917A>G
c.3442A>G (p.Thr1148Ala)
n.3815A>G
n.542A>G
c.2611A>G (p.Thr871Ala)
c.2386A>G (p.Thr796Ala)
c.3481A>G (p.Thr1161Ala)
c.1454A>G
c.*777A>G (n.*777A>G)
n.4420A>G
n.3021A>G
c.3532A>G (p.Thr1178Ala)
c.3580A>G (p.Thr1194Ala)
c.3640A>G (p.Thr1214Ala)
c.3190A>G (p.Thr1064Ala)
c.1492A>G (p.Thr498Ala)
c.1309A>G (p.Thr437Ala)
c.3541A>G (p.Thr1181Ala)
c.3493A>G (p.Thr1165Ala)
c.3262A>G (p.Thr1088Ala)
c.3163A>G (p.Thr1055Ala)
c.2344A>G (p.Thr782Ala)
n.3895A>G
13g.51939074T>GCA388023702ATP7Bc.*1326A>C (n.*1326A>C)
c.*2420A>C (n.*2420A>C)
c.3055A>C (p.Thr1019Pro)
c.3676A>C (p.Thr1226Pro)
c.3343A>C (p.Thr1115Pro)
c.3424A>C (p.Thr1142Pro)
n.917A>C
c.3442A>C (p.Thr1148Pro)
n.3815A>C
n.542A>C
c.2611A>C (p.Thr871Pro)
c.2386A>C (p.Thr796Pro)
c.3481A>C (p.Thr1161Pro)
c.1454A>C
c.*777A>C (n.*777A>C)
n.4420A>C
n.3021A>C
c.3532A>C (p.Thr1178Pro)
c.3580A>C (p.Thr1194Pro)
c.3640A>C (p.Thr1214Pro)
c.3190A>C (p.Thr1064Pro)
c.1492A>C (p.Thr498Pro)
c.1309A>C (p.Thr437Pro)
c.3541A>C (p.Thr1181Pro)
c.3493A>C (p.Thr1165Pro)
c.3262A>C (p.Thr1088Pro)
c.3163A>C (p.Thr1055Pro)
c.2344A>C (p.Thr782Pro)
n.3895A>C
13g.51939076_51939078delCA609963163ATP7Bc.*1324_*1326del (n.*1324_*1326del)
c.*2418_*2420del (n.*2418_*2420del)
c.3053_3055del (p.Lys1018del)
c.3674_3676del (p.Lys1225del)
c.3341_3343del (p.Lys1114del)
c.3422_3424del (p.Lys1141del)
n.915_917del
c.3440_3442del (p.Lys1147del)
n.3813_3815del
n.540_542del
c.2609_2611del (p.Lys870del)
c.2384_2386del (p.Lys795del)
c.3479_3481del (p.Lys1160del)
c.1452_1454del
c.*775_*777del (n.*775_*777del)
n.4418_4420del
n.3019_3021del
c.3530_3532del (p.Lys1177del)
c.3578_3580del (p.Lys1193del)
c.3638_3640del (p.Lys1213del)
c.3188_3190del (p.Lys1063del)
c.1490_1492del (p.Lys497del)
c.1307_1309del (p.Lys436del)
c.3539_3541del (p.Lys1180del)
c.3491_3493del (p.Lys1164del)
c.3260_3262del (p.Lys1087del)
c.3161_3163del (p.Lys1054del)
c.2342_2344del (p.Lys781del)
n.3893_3895del
 dbSNP gnomAD v2 gnomAD v4
13g.51939075C>ACA388023704ATP7Bc.*1325G>T (n.*1325G>T)
c.*2419G>T (n.*2419G>T)
c.3054G>T (p.Lys1018Asn)
c.3675G>T (p.Lys1225Asn)
c.3342G>T (p.Lys1114Asn)
c.3423G>T (p.Lys1141Asn)
n.916G>T
c.3441G>T (p.Lys1147Asn)
n.3814G>T
n.541G>T
c.2610G>T (p.Lys870Asn)
c.2385G>T (p.Lys795Asn)
c.3480G>T (p.Lys1160Asn)
c.1453G>T
c.*776G>T (n.*776G>T)
n.4419G>T
n.3020G>T
c.3531G>T (p.Lys1177Asn)
c.3579G>T (p.Lys1193Asn)
c.3639G>T (p.Lys1213Asn)
c.3189G>T (p.Lys1063Asn)
c.1491G>T (p.Lys497Asn)
c.1308G>T (p.Lys436Asn)
c.3540G>T (p.Lys1180Asn)
c.3492G>T (p.Lys1164Asn)
c.3261G>T (p.Lys1087Asn)
c.3162G>T (p.Lys1054Asn)
c.2343G>T (p.Lys781Asn)
n.3894G>T
13g.51939075C>GCA388023716ATP7Bc.*1325G>C (n.*1325G>C)
c.*2419G>C (n.*2419G>C)
c.3054G>C (p.Lys1018Asn)
c.3675G>C (p.Lys1225Asn)
c.3342G>C (p.Lys1114Asn)
c.3423G>C (p.Lys1141Asn)
n.916G>C
c.3441G>C (p.Lys1147Asn)
n.3814G>C
n.541G>C
c.2610G>C (p.Lys870Asn)
c.2385G>C (p.Lys795Asn)
c.3480G>C (p.Lys1160Asn)
c.1453G>C
c.*776G>C (n.*776G>C)
n.4419G>C
n.3020G>C
c.3531G>C (p.Lys1177Asn)
c.3579G>C (p.Lys1193Asn)
c.3639G>C (p.Lys1213Asn)
c.3189G>C (p.Lys1063Asn)
c.1491G>C (p.Lys497Asn)
c.1308G>C (p.Lys436Asn)
c.3540G>C (p.Lys1180Asn)
c.3492G>C (p.Lys1164Asn)
c.3261G>C (p.Lys1087Asn)
c.3162G>C (p.Lys1054Asn)
c.2343G>C (p.Lys781Asn)
n.3894G>C
13g.51939075C>TCA483893653ATP7Bc.*1325G>A (n.*1325G>A)
c.*2419G>A (n.*2419G>A)
c.3054G>A (p.Lys1018=)
c.3675G>A (p.Lys1225=)
c.3342G>A (p.Lys1114=)
c.3423G>A (p.Lys1141=)
n.916G>A
c.3441G>A (p.Lys1147=)
n.3814G>A
n.541G>A
c.2610G>A (p.Lys870=)
c.2385G>A (p.Lys795=)
c.3480G>A (p.Lys1160=)
c.1453G>A
c.*776G>A (n.*776G>A)
n.4419G>A
n.3020G>A
c.3531G>A (p.Lys1177=)
c.3579G>A (p.Lys1193=)
c.3639G>A (p.Lys1213=)
c.3189G>A (p.Lys1063=)
c.1491G>A (p.Lys497=)
c.1308G>A (p.Lys436=)
c.3540G>A (p.Lys1180=)
c.3492G>A (p.Lys1164=)
c.3261G>A (p.Lys1087=)
c.3162G>A (p.Lys1054=)
c.2343G>A (p.Lys781=)
n.3894G>A
 COSMIC
13g.51939075_51939082delinsCTTCCGGTCA2091556684ATP7Bc.*1318_*1325delinsACCGGAAG (n.*1318_*1325delinsACCGGAAG)
c.*2412_*2419delinsACCGGAAG (n.*2412_*2419delinsACCGGAAG)
c.3047_3054delinsACCGGAAG (p.Asn1016=)
c.3668_3675delinsACCGGAAG (p.Asn1223=)
c.3335_3342delinsACCGGAAG (p.Asn1112=)
c.3416_3423delinsACCGGAAG (p.Asn1139=)
n.909_916delinsACCGGAAG
c.3434_3441delinsACCGGAAG (p.Asn1145=)
n.3807_3814delinsACCGGAAG
n.534_541delinsACCGGAAG
c.2603_2610delinsACCGGAAG (p.Asn868=)
c.2378_2385delinsACCGGAAG (p.Asn793=)
c.3473_3480delinsACCGGAAG (p.Asn1158=)
c.1446_1453delinsACCGGAAG
c.*769_*776delinsACCGGAAG (n.*769_*776delinsACCGGAAG)
n.4412_4419delinsACCGGAAG
n.3013_3020delinsACCGGAAG
c.3524_3531delinsACCGGAAG (p.Asn1175=)
c.3572_3579delinsACCGGAAG (p.Asn1191=)
c.3632_3639delinsACCGGAAG (p.Asn1211=)
c.3182_3189delinsACCGGAAG (p.Asn1061=)
c.1484_1491delinsACCGGAAG (p.Asn495=)
c.1301_1308delinsACCGGAAG (p.Asn434=)
c.3533_3540delinsACCGGAAG (p.Asn1178=)
c.3485_3492delinsACCGGAAG (p.Asn1162=)
c.3254_3261delinsACCGGAAG (p.Asn1085=)
c.3155_3162delinsACCGGAAG (p.Asn1052=)
c.2336_2343delinsACCGGAAG (p.Asn779=)
n.3887_3894delinsACCGGAAG
13g.51939076T>ACA388023721ATP7Bc.*1324A>T (n.*1324A>T)
c.*2418A>T (n.*2418A>T)
c.3053A>T (p.Lys1018Met)
c.3674A>T (p.Lys1225Met)
c.3341A>T (p.Lys1114Met)
c.3422A>T (p.Lys1141Met)
n.915A>T
c.3440A>T (p.Lys1147Met)
n.3813A>T
n.540A>T
c.2609A>T (p.Lys870Met)
c.2384A>T (p.Lys795Met)
c.3479A>T (p.Lys1160Met)
c.1452A>T
c.*775A>T (n.*775A>T)
n.4418A>T
n.3019A>T
c.3530A>T (p.Lys1177Met)
c.3578A>T (p.Lys1193Met)
c.3638A>T (p.Lys1213Met)
c.3188A>T (p.Lys1063Met)
c.1490A>T (p.Lys497Met)
c.1307A>T (p.Lys436Met)
c.3539A>T (p.Lys1180Met)
c.3491A>T (p.Lys1164Met)
c.3260A>T (p.Lys1087Met)
c.3161A>T (p.Lys1054Met)
c.2342A>T (p.Lys781Met)
n.3893A>T
13g.51939076T>CCA388023735ATP7Bc.*1324A>G (n.*1324A>G)
c.*2418A>G (n.*2418A>G)
c.3053A>G (p.Lys1018Arg)
c.3674A>G (p.Lys1225Arg)
c.3341A>G (p.Lys1114Arg)
c.3422A>G (p.Lys1141Arg)
n.915A>G
c.3440A>G (p.Lys1147Arg)
n.3813A>G
n.540A>G
c.2609A>G (p.Lys870Arg)
c.2384A>G (p.Lys795Arg)
c.3479A>G (p.Lys1160Arg)
c.1452A>G
c.*775A>G (n.*775A>G)
n.4418A>G
n.3019A>G
c.3530A>G (p.Lys1177Arg)
c.3578A>G (p.Lys1193Arg)
c.3638A>G (p.Lys1213Arg)
c.3188A>G (p.Lys1063Arg)
c.1490A>G (p.Lys497Arg)
c.1307A>G (p.Lys436Arg)
c.3539A>G (p.Lys1180Arg)
c.3491A>G (p.Lys1164Arg)
c.3260A>G (p.Lys1087Arg)
c.3161A>G (p.Lys1054Arg)
c.2342A>G (p.Lys781Arg)
n.3893A>G
13g.51939076T>GCA388023738ATP7Bc.*1324A>C (n.*1324A>C)
c.*2418A>C (n.*2418A>C)
c.3053A>C (p.Lys1018Thr)
c.3674A>C (p.Lys1225Thr)
c.3341A>C (p.Lys1114Thr)
c.3422A>C (p.Lys1141Thr)
n.915A>C
c.3440A>C (p.Lys1147Thr)
n.3813A>C
n.540A>C
c.2609A>C (p.Lys870Thr)
c.2384A>C (p.Lys795Thr)
c.3479A>C (p.Lys1160Thr)
c.1452A>C
c.*775A>C (n.*775A>C)
n.4418A>C
n.3019A>C
c.3530A>C (p.Lys1177Thr)
c.3578A>C (p.Lys1193Thr)
c.3638A>C (p.Lys1213Thr)
c.3188A>C (p.Lys1063Thr)
c.1490A>C (p.Lys497Thr)
c.1307A>C (p.Lys436Thr)
c.3539A>C (p.Lys1180Thr)
c.3491A>C (p.Lys1164Thr)
c.3260A>C (p.Lys1087Thr)
c.3161A>C (p.Lys1054Thr)
c.2342A>C (p.Lys781Thr)
n.3893A>C
13g.51939077_51939083delCA6988611ATP7Bc.*1318_*1324del (n.*1318_*1324del)
c.*2412_*2418del (n.*2412_*2418del)
c.3047_3053del (p.Asn1016ArgfsTer?)
c.3668_3674del (p.Asn1223ArgfsTer?)
c.3335_3341del (p.Asn1112ArgfsTer?)
c.3416_3422del (p.Asn1139ArgfsTer?)
n.909_915del
c.3434_3440del (p.Asn1145ArgfsTer?)
n.3807_3813del
n.534_540del
c.2603_2609del (p.Asn868ArgfsTer?)
c.2378_2384del (p.Asn793ArgfsTer?)
c.3473_3479del (p.Asn1158ArgfsTer?)
c.1446_1452del
c.*769_*775del (n.*769_*775del)
n.4412_4418del
n.3013_3019del
c.3524_3530del (p.Asn1175ArgfsTer?)
c.3572_3578del (p.Asn1191ArgfsTer?)
c.3632_3638del (p.Asn1211ArgfsTer?)
c.3182_3188del (p.Asn1061ArgfsTer?)
c.1484_1490del (p.Asn495ArgfsTer?)
c.1301_1307del (p.Asn434ArgfsTer?)
c.3533_3539del (p.Asn1178ArgfsTer?)
c.3485_3491del (p.Asn1162ArgfsTer?)
c.3254_3260del (p.Asn1085ArgfsTer?)
c.3155_3161del (p.Asn1052ArgfsTer?)
c.2336_2342del (p.Asn779ArgfsTer?)
n.3887_3893del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51939077T>ACA388023740ATP7Bc.*1323A>T (n.*1323A>T)
c.*2417A>T (n.*2417A>T)
c.3052A>T (p.Lys1018Ter)
c.3673A>T (p.Lys1225Ter)
c.3340A>T (p.Lys1114Ter)
c.3421A>T (p.Lys1141Ter)
n.914A>T
c.3439A>T (p.Lys1147Ter)
n.3812A>T
n.539A>T
c.2608A>T (p.Lys870Ter)
c.2383A>T (p.Lys795Ter)
c.3478A>T (p.Lys1160Ter)
c.1451A>T
c.*774A>T (n.*774A>T)
n.4417A>T
n.3018A>T
c.3529A>T (p.Lys1177Ter)
c.3577A>T (p.Lys1193Ter)
c.3637A>T (p.Lys1213Ter)
c.3187A>T (p.Lys1063Ter)
c.1489A>T (p.Lys497Ter)
c.1306A>T (p.Lys436Ter)
c.3538A>T (p.Lys1180Ter)
c.3490A>T (p.Lys1164Ter)
c.3259A>T (p.Lys1087Ter)
c.3160A>T (p.Lys1054Ter)
c.2341A>T (p.Lys781Ter)
n.3892A>T
 gnomAD v4
13g.51939077T>CCA388023741ATP7Bc.*1323A>G (n.*1323A>G)
c.*2417A>G (n.*2417A>G)
c.3052A>G (p.Lys1018Glu)
c.3673A>G (p.Lys1225Glu)
c.3340A>G (p.Lys1114Glu)
c.3421A>G (p.Lys1141Glu)
n.914A>G
c.3439A>G (p.Lys1147Glu)
n.3812A>G
n.539A>G
c.2608A>G (p.Lys870Glu)
c.2383A>G (p.Lys795Glu)
c.3478A>G (p.Lys1160Glu)
c.1451A>G
c.*774A>G (n.*774A>G)
n.4417A>G
n.3018A>G
c.3529A>G (p.Lys1177Glu)
c.3577A>G (p.Lys1193Glu)
c.3637A>G (p.Lys1213Glu)
c.3187A>G (p.Lys1063Glu)
c.1489A>G (p.Lys497Glu)
c.1306A>G (p.Lys436Glu)
c.3538A>G (p.Lys1180Glu)
c.3490A>G (p.Lys1164Glu)
c.3259A>G (p.Lys1087Glu)
c.3160A>G (p.Lys1054Glu)
c.2341A>G (p.Lys781Glu)
n.3892A>G
13g.51939077T>GCA388023742ATP7Bc.*1323A>C (n.*1323A>C)
c.*2417A>C (n.*2417A>C)
c.3052A>C (p.Lys1018Gln)
c.3673A>C (p.Lys1225Gln)
c.3340A>C (p.Lys1114Gln)
c.3421A>C (p.Lys1141Gln)
n.914A>C
c.3439A>C (p.Lys1147Gln)
n.3812A>C
n.539A>C
c.2608A>C (p.Lys870Gln)
c.2383A>C (p.Lys795Gln)
c.3478A>C (p.Lys1160Gln)
c.1451A>C
c.*774A>C (n.*774A>C)
n.4417A>C
n.3018A>C
c.3529A>C (p.Lys1177Gln)
c.3577A>C (p.Lys1193Gln)
c.3637A>C (p.Lys1213Gln)
c.3187A>C (p.Lys1063Gln)
c.1489A>C (p.Lys497Gln)
c.1306A>C (p.Lys436Gln)
c.3538A>C (p.Lys1180Gln)
c.3490A>C (p.Lys1164Gln)
c.3259A>C (p.Lys1087Gln)
c.3160A>C (p.Lys1054Gln)
c.2341A>C (p.Lys781Gln)
n.3892A>C
13g.51939078C>ACA483893664ATP7Bc.*1322G>T (n.*1322G>T)
c.*2416G>T (n.*2416G>T)
c.3051G>T (p.Arg1017=)
c.3672G>T (p.Arg1224=)
c.3339G>T (p.Arg1113=)
c.3420G>T (p.Arg1140=)
n.913G>T
c.3438G>T (p.Arg1146=)
n.3811G>T
n.538G>T
c.2607G>T (p.Arg869=)
c.2382G>T (p.Arg794=)
c.3477G>T (p.Arg1159=)
c.1450G>T
c.*773G>T (n.*773G>T)
n.4416G>T
n.3017G>T
c.3528G>T (p.Arg1176=)
c.3576G>T (p.Arg1192=)
c.3636G>T (p.Arg1212=)
c.3186G>T (p.Arg1062=)
c.1488G>T (p.Arg496=)
c.1305G>T (p.Arg435=)
c.3537G>T (p.Arg1179=)
c.3489G>T (p.Arg1163=)
c.3258G>T (p.Arg1086=)
c.3159G>T (p.Arg1053=)
c.2340G>T (p.Arg780=)
n.3891G>T
 COSMIC
13g.51939078C=CA2091556688ATP7Bc.*1322G= (n.*1322G=)
c.*2416G= (n.*2416G=)
c.3051G= (p.Arg1017=)
c.3672G= (p.Arg1224=)
c.3339G= (p.Arg1113=)
c.3420G= (p.Arg1140=)
n.913G=
c.3438G= (p.Arg1146=)
n.3811G=
n.538G=
c.2607G= (p.Arg869=)
c.2382G= (p.Arg794=)
c.3477G= (p.Arg1159=)
c.1450G=
c.*773G= (n.*773G=)
n.4416G=
n.3017G=
c.3528G= (p.Arg1176=)
c.3576G= (p.Arg1192=)
c.3636G= (p.Arg1212=)
c.3186G= (p.Arg1062=)
c.1488G= (p.Arg496=)
c.1305G= (p.Arg435=)
c.3537G= (p.Arg1179=)
c.3489G= (p.Arg1163=)
c.3258G= (p.Arg1086=)
c.3159G= (p.Arg1053=)
c.2340G= (p.Arg780=)
n.3891G=
13g.51939078C>GCA483893667ATP7Bc.*1322G>C (n.*1322G>C)
c.*2416G>C (n.*2416G>C)
c.3051G>C (p.Arg1017=)
c.3672G>C (p.Arg1224=)
c.3339G>C (p.Arg1113=)
c.3420G>C (p.Arg1140=)
n.913G>C
c.3438G>C (p.Arg1146=)
n.3811G>C
n.538G>C
c.2607G>C (p.Arg869=)
c.2382G>C (p.Arg794=)
c.3477G>C (p.Arg1159=)
c.1450G>C
c.*773G>C (n.*773G>C)
n.4416G>C
n.3017G>C
c.3528G>C (p.Arg1176=)
c.3576G>C (p.Arg1192=)
c.3636G>C (p.Arg1212=)
c.3186G>C (p.Arg1062=)
c.1488G>C (p.Arg496=)
c.1305G>C (p.Arg435=)
c.3537G>C (p.Arg1179=)
c.3489G>C (p.Arg1163=)
c.3258G>C (p.Arg1086=)
c.3159G>C (p.Arg1053=)
c.2340G>C (p.Arg780=)
n.3891G>C
13g.51939078C>TCA483893666ATP7Bc.*1322G>A (n.*1322G>A)
c.*2416G>A (n.*2416G>A)
c.3051G>A (p.Arg1017=)
c.3672G>A (p.Arg1224=)
c.3339G>A (p.Arg1113=)
c.3420G>A (p.Arg1140=)
n.913G>A
c.3438G>A (p.Arg1146=)
n.3811G>A
n.538G>A
c.2607G>A (p.Arg869=)
c.2382G>A (p.Arg794=)
c.3477G>A (p.Arg1159=)
c.1450G>A
c.*773G>A (n.*773G>A)
n.4416G>A
n.3017G>A
c.3528G>A (p.Arg1176=)
c.3576G>A (p.Arg1192=)
c.3636G>A (p.Arg1212=)
c.3186G>A (p.Arg1062=)
c.1488G>A (p.Arg496=)
c.1305G>A (p.Arg435=)
c.3537G>A (p.Arg1179=)
c.3489G>A (p.Arg1163=)
c.3258G>A (p.Arg1086=)
c.3159G>A (p.Arg1053=)
c.2340G>A (p.Arg780=)
n.3891G>A
13g.51939078_51939079insGGAACA609963164ATP7Bc.*1321_*1322insTTCC (n.*1321_*1322insTTCC)
c.*2415_*2416insTTCC (n.*2415_*2416insTTCC)
c.3050_3051insTTCC (p.Lys1018SerfsTer?)
c.3671_3672insTTCC (p.Lys1225SerfsTer?)
c.3338_3339insTTCC (p.Lys1114SerfsTer?)
c.3419_3420insTTCC (p.Lys1141SerfsTer?)
n.912_913insTTCC
c.3437_3438insTTCC (p.Lys1147SerfsTer?)
n.3810_3811insTTCC
n.537_538insTTCC
c.2606_2607insTTCC (p.Lys870SerfsTer?)
c.2381_2382insTTCC (p.Lys795SerfsTer?)
c.3476_3477insTTCC (p.Lys1160SerfsTer?)
c.1449_1450insTTCC
c.*772_*773insTTCC (n.*772_*773insTTCC)
n.4415_4416insTTCC
n.3016_3017insTTCC
c.3527_3528insTTCC (p.Lys1177SerfsTer?)
c.3575_3576insTTCC (p.Lys1193SerfsTer?)
c.3635_3636insTTCC (p.Lys1213SerfsTer?)
c.3185_3186insTTCC (p.Lys1063SerfsTer?)
c.1487_1488insTTCC (p.Lys497SerfsTer?)
c.1304_1305insTTCC (p.Lys436SerfsTer?)
c.3536_3537insTTCC (p.Lys1180SerfsTer?)
c.3488_3489insTTCC (p.Lys1164SerfsTer?)
c.3257_3258insTTCC (p.Lys1087SerfsTer?)
c.3158_3159insTTCC (p.Lys1054SerfsTer?)
c.2339_2340insTTCC (p.Lys781SerfsTer?)
n.3890_3891insTTCC
 dbSNP gnomAD v2 gnomAD v4
13g.51939079C>ACA6988612ATP7Bc.*1321G>T (n.*1321G>T)
c.*2415G>T (n.*2415G>T)
c.3050G>T (p.Arg1017Leu)
c.3671G>T (p.Arg1224Leu)
c.3338G>T (p.Arg1113Leu)
c.3419G>T (p.Arg1140Leu)
n.912G>T
c.3437G>T (p.Arg1146Leu)
n.3810G>T
n.537G>T
c.2606G>T (p.Arg869Leu)
c.2381G>T (p.Arg794Leu)
c.3476G>T (p.Arg1159Leu)
c.1449G>T
c.*772G>T (n.*772G>T)
n.4415G>T
n.3016G>T
c.3527G>T (p.Arg1176Leu)
c.3575G>T (p.Arg1192Leu)
c.3635G>T (p.Arg1212Leu)
c.3185G>T (p.Arg1062Leu)
c.1487G>T (p.Arg496Leu)
c.1304G>T (p.Arg435Leu)
c.3536G>T (p.Arg1179Leu)
c.3488G>T (p.Arg1163Leu)
c.3257G>T (p.Arg1086Leu)
c.3158G>T (p.Arg1053Leu)
c.2339G>T (p.Arg780Leu)
n.3890G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51939079C=CA2091556697ATP7Bc.*1321G= (n.*1321G=)
c.*2415G= (n.*2415G=)
c.3050G= (p.Arg1017=)
c.3671G= (p.Arg1224=)
c.3338G= (p.Arg1113=)
c.3419G= (p.Arg1140=)
n.912G=
c.3437G= (p.Arg1146=)
n.3810G=
n.537G=
c.2606G= (p.Arg869=)
c.2381G= (p.Arg794=)
c.3476G= (p.Arg1159=)
c.1449G=
c.*772G= (n.*772G=)
n.4415G=
n.3016G=
c.3527G= (p.Arg1176=)
c.3575G= (p.Arg1192=)
c.3635G= (p.Arg1212=)
c.3185G= (p.Arg1062=)
c.1487G= (p.Arg496=)
c.1304G= (p.Arg435=)
c.3536G= (p.Arg1179=)
c.3488G= (p.Arg1163=)
c.3257G= (p.Arg1086=)
c.3158G= (p.Arg1053=)
c.2339G= (p.Arg780=)
n.3890G=
13g.51939079C>GCA388023745ATP7Bc.*1321G>C (n.*1321G>C)
c.*2415G>C (n.*2415G>C)
c.3050G>C (p.Arg1017Pro)
c.3671G>C (p.Arg1224Pro)
c.3338G>C (p.Arg1113Pro)
c.3419G>C (p.Arg1140Pro)
n.912G>C
c.3437G>C (p.Arg1146Pro)
n.3810G>C
n.537G>C
c.2606G>C (p.Arg869Pro)
c.2381G>C (p.Arg794Pro)
c.3476G>C (p.Arg1159Pro)
c.1449G>C
c.*772G>C (n.*772G>C)
n.4415G>C
n.3016G>C
c.3527G>C (p.Arg1176Pro)
c.3575G>C (p.Arg1192Pro)
c.3635G>C (p.Arg1212Pro)
c.3185G>C (p.Arg1062Pro)
c.1487G>C (p.Arg496Pro)
c.1304G>C (p.Arg435Pro)
c.3536G>C (p.Arg1179Pro)
c.3488G>C (p.Arg1163Pro)
c.3257G>C (p.Arg1086Pro)
c.3158G>C (p.Arg1053Pro)
c.2339G>C (p.Arg780Pro)
n.3890G>C
13g.51939079C>TCA6988613ATP7Bc.*1321G>A (n.*1321G>A)
c.*2415G>A (n.*2415G>A)
c.3050G>A (p.Arg1017Gln)
c.3671G>A (p.Arg1224Gln)
c.3338G>A (p.Arg1113Gln)
c.3419G>A (p.Arg1140Gln)
n.912G>A
c.3437G>A (p.Arg1146Gln)
n.3810G>A
n.537G>A
c.2606G>A (p.Arg869Gln)
c.2381G>A (p.Arg794Gln)
c.3476G>A (p.Arg1159Gln)
c.1449G>A
c.*772G>A (n.*772G>A)
n.4415G>A
n.3016G>A
c.3527G>A (p.Arg1176Gln)
c.3575G>A (p.Arg1192Gln)
c.3635G>A (p.Arg1212Gln)
c.3185G>A (p.Arg1062Gln)
c.1487G>A (p.Arg496Gln)
c.1304G>A (p.Arg435Gln)
c.3536G>A (p.Arg1179Gln)
c.3488G>A (p.Arg1163Gln)
c.3257G>A (p.Arg1086Gln)
c.3158G>A (p.Arg1053Gln)
c.2339G>A (p.Arg780Gln)
n.3890G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51939080G>ACA6988614ATP7Bc.*1320C>T (n.*1320C>T)
c.*2414C>T (n.*2414C>T)
c.3049C>T (p.Arg1017Trp)
c.3670C>T (p.Arg1224Trp)
c.3337C>T (p.Arg1113Trp)
c.3418C>T (p.Arg1140Trp)
n.911C>T
c.3436C>T (p.Arg1146Trp)
n.3809C>T
n.536C>T
c.2605C>T (p.Arg869Trp)
c.2380C>T (p.Arg794Trp)
c.3475C>T (p.Arg1159Trp)
c.1448C>T
c.*771C>T (n.*771C>T)
n.4414C>T
n.3015C>T
c.3526C>T (p.Arg1176Trp)
c.3574C>T (p.Arg1192Trp)
c.3634C>T (p.Arg1212Trp)
c.3184C>T (p.Arg1062Trp)
c.1486C>T (p.Arg496Trp)
c.1303C>T (p.Arg435Trp)
c.3535C>T (p.Arg1179Trp)
c.3487C>T (p.Arg1163Trp)
c.3256C>T (p.Arg1086Trp)
c.3157C>T (p.Arg1053Trp)
c.2338C>T (p.Arg780Trp)
n.3889C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51939080G>CCA388023755ATP7Bc.*1320C>G (n.*1320C>G)
c.*2414C>G (n.*2414C>G)
c.3049C>G (p.Arg1017Gly)
c.3670C>G (p.Arg1224Gly)
c.3337C>G (p.Arg1113Gly)
c.3418C>G (p.Arg1140Gly)
n.911C>G
c.3436C>G (p.Arg1146Gly)
n.3809C>G
n.536C>G
c.2605C>G (p.Arg869Gly)
c.2380C>G (p.Arg794Gly)
c.3475C>G (p.Arg1159Gly)
c.1448C>G
c.*771C>G (n.*771C>G)
n.4414C>G
n.3015C>G
c.3526C>G (p.Arg1176Gly)
c.3574C>G (p.Arg1192Gly)
c.3634C>G (p.Arg1212Gly)
c.3184C>G (p.Arg1062Gly)
c.1486C>G (p.Arg496Gly)
c.1303C>G (p.Arg435Gly)
c.3535C>G (p.Arg1179Gly)
c.3487C>G (p.Arg1163Gly)
c.3256C>G (p.Arg1086Gly)
c.3157C>G (p.Arg1053Gly)
c.2338C>G (p.Arg780Gly)
n.3889C>G
 ClinVar gnomAD v4
13g.51939080G=CA2091556705ATP7Bc.*1320C= (n.*1320C=)
c.*2414C= (n.*2414C=)
c.3049C= (p.Arg1017=)
c.3670C= (p.Arg1224=)
c.3337C= (p.Arg1113=)
c.3418C= (p.Arg1140=)
n.911C=
c.3436C= (p.Arg1146=)
n.3809C=
n.536C=
c.2605C= (p.Arg869=)
c.2380C= (p.Arg794=)
c.3475C= (p.Arg1159=)
c.1448C=
c.*771C= (n.*771C=)
n.4414C=
n.3015C=
c.3526C= (p.Arg1176=)
c.3574C= (p.Arg1192=)
c.3634C= (p.Arg1212=)
c.3184C= (p.Arg1062=)
c.1486C= (p.Arg496=)
c.1303C= (p.Arg435=)
c.3535C= (p.Arg1179=)
c.3487C= (p.Arg1163=)
c.3256C= (p.Arg1086=)
c.3157C= (p.Arg1053=)
c.2338C= (p.Arg780=)
n.3889C=
13g.51939080G>TCA483893674ATP7Bc.*1320C>A (n.*1320C>A)
c.*2414C>A (n.*2414C>A)
c.3049C>A (p.Arg1017=)
c.3670C>A (p.Arg1224=)
c.3337C>A (p.Arg1113=)
c.3418C>A (p.Arg1140=)
n.911C>A
c.3436C>A (p.Arg1146=)
n.3809C>A
n.536C>A
c.2605C>A (p.Arg869=)
c.2380C>A (p.Arg794=)
c.3475C>A (p.Arg1159=)
c.1448C>A
c.*771C>A (n.*771C>A)
n.4414C>A
n.3015C>A
c.3526C>A (p.Arg1176=)
c.3574C>A (p.Arg1192=)
c.3634C>A (p.Arg1212=)
c.3184C>A (p.Arg1062=)
c.1486C>A (p.Arg496=)
c.1303C>A (p.Arg435=)
c.3535C>A (p.Arg1179=)
c.3487C>A (p.Arg1163=)
c.3256C>A (p.Arg1086=)
c.3157C>A (p.Arg1053=)
c.2338C>A (p.Arg780=)
n.3889C>A
13g.51939081G>ACA483893677ATP7Bc.*1319C>T (n.*1319C>T)
c.*2413C>T (n.*2413C>T)
c.3048C>T (p.Asn1016=)
c.3669C>T (p.Asn1223=)
c.3336C>T (p.Asn1112=)
c.3417C>T (p.Asn1139=)
n.910C>T
c.3435C>T (p.Asn1145=)
n.3808C>T
n.535C>T
c.2604C>T (p.Asn868=)
c.2379C>T (p.Asn793=)
c.3474C>T (p.Asn1158=)
c.1447C>T
c.*770C>T (n.*770C>T)
n.4413C>T
n.3014C>T
c.3525C>T (p.Asn1175=)
c.3573C>T (p.Asn1191=)
c.3633C>T (p.Asn1211=)
c.3183C>T (p.Asn1061=)
c.1485C>T (p.Asn495=)
c.1302C>T (p.Asn434=)
c.3534C>T (p.Asn1178=)
c.3486C>T (p.Asn1162=)
c.3255C>T (p.Asn1085=)
c.3156C>T (p.Asn1052=)
c.2337C>T (p.Asn779=)
n.3888C>T
 COSMIC
13g.51939081G>CCA388023758ATP7Bc.*1319C>G (n.*1319C>G)
c.*2413C>G (n.*2413C>G)
c.3048C>G (p.Asn1016Lys)
c.3669C>G (p.Asn1223Lys)
c.3336C>G (p.Asn1112Lys)
c.3417C>G (p.Asn1139Lys)
n.910C>G
c.3435C>G (p.Asn1145Lys)
n.3808C>G
n.535C>G
c.2604C>G (p.Asn868Lys)
c.2379C>G (p.Asn793Lys)
c.3474C>G (p.Asn1158Lys)
c.1447C>G
c.*770C>G (n.*770C>G)
n.4413C>G
n.3014C>G
c.3525C>G (p.Asn1175Lys)
c.3573C>G (p.Asn1191Lys)
c.3633C>G (p.Asn1211Lys)
c.3183C>G (p.Asn1061Lys)
c.1485C>G (p.Asn495Lys)
c.1302C>G (p.Asn434Lys)
c.3534C>G (p.Asn1178Lys)
c.3486C>G (p.Asn1162Lys)
c.3255C>G (p.Asn1085Lys)
c.3156C>G (p.Asn1052Lys)
c.2337C>G (p.Asn779Lys)
n.3888C>G
13g.51939081G>TCA388023759ATP7Bc.*1319C>A (n.*1319C>A)
c.*2413C>A (n.*2413C>A)
c.3048C>A (p.Asn1016Lys)
c.3669C>A (p.Asn1223Lys)
c.3336C>A (p.Asn1112Lys)
c.3417C>A (p.Asn1139Lys)
n.910C>A
c.3435C>A (p.Asn1145Lys)
n.3808C>A
n.535C>A
c.2604C>A (p.Asn868Lys)
c.2379C>A (p.Asn793Lys)
c.3474C>A (p.Asn1158Lys)
c.1447C>A
c.*770C>A (n.*770C>A)
n.4413C>A
n.3014C>A
c.3525C>A (p.Asn1175Lys)
c.3573C>A (p.Asn1191Lys)
c.3633C>A (p.Asn1211Lys)
c.3183C>A (p.Asn1061Lys)
c.1485C>A (p.Asn495Lys)
c.1302C>A (p.Asn434Lys)
c.3534C>A (p.Asn1178Lys)
c.3486C>A (p.Asn1162Lys)
c.3255C>A (p.Asn1085Lys)
c.3156C>A (p.Asn1052Lys)
c.2337C>A (p.Asn779Lys)
n.3888C>A
13g.51939082T>ACA388023763ATP7Bc.*1318A>T (n.*1318A>T)
c.*2412A>T (n.*2412A>T)
c.3047A>T (p.Asn1016Ile)
c.3668A>T (p.Asn1223Ile)
c.3335A>T (p.Asn1112Ile)
c.3416A>T (p.Asn1139Ile)
n.909A>T
c.3434A>T (p.Asn1145Ile)
n.3807A>T
n.534A>T
c.2603A>T (p.Asn868Ile)
c.2378A>T (p.Asn793Ile)
c.3473A>T (p.Asn1158Ile)
c.1446A>T
c.*769A>T (n.*769A>T)
n.4412A>T
n.3013A>T
c.3524A>T (p.Asn1175Ile)
c.3572A>T (p.Asn1191Ile)
c.3632A>T (p.Asn1211Ile)
c.3182A>T (p.Asn1061Ile)
c.1484A>T (p.Asn495Ile)
c.1301A>T (p.Asn434Ile)
c.3533A>T (p.Asn1178Ile)
c.3485A>T (p.Asn1162Ile)
c.3254A>T (p.Asn1085Ile)
c.3155A>T (p.Asn1052Ile)
c.2336A>T (p.Asn779Ile)
n.3887A>T
13g.51939082T>CCA388023766ATP7Bc.*1318A>G (n.*1318A>G)
c.*2412A>G (n.*2412A>G)
c.3047A>G (p.Asn1016Ser)
c.3668A>G (p.Asn1223Ser)
c.3335A>G (p.Asn1112Ser)
c.3416A>G (p.Asn1139Ser)
n.909A>G
c.3434A>G (p.Asn1145Ser)
n.3807A>G
n.534A>G
c.2603A>G (p.Asn868Ser)
c.2378A>G (p.Asn793Ser)
c.3473A>G (p.Asn1158Ser)
c.1446A>G
c.*769A>G (n.*769A>G)
n.4412A>G
n.3013A>G
c.3524A>G (p.Asn1175Ser)
c.3572A>G (p.Asn1191Ser)
c.3632A>G (p.Asn1211Ser)
c.3182A>G (p.Asn1061Ser)
c.1484A>G (p.Asn495Ser)
c.1301A>G (p.Asn434Ser)
c.3533A>G (p.Asn1178Ser)
c.3485A>G (p.Asn1162Ser)
c.3254A>G (p.Asn1085Ser)
c.3155A>G (p.Asn1052Ser)
c.2336A>G (p.Asn779Ser)
n.3887A>G
 gnomAD v4
13g.51939082T>GCA6988615ATP7Bc.*1318A>C (n.*1318A>C)
c.*2412A>C (n.*2412A>C)
c.3047A>C (p.Asn1016Thr)
c.3668A>C (p.Asn1223Thr)
c.3335A>C (p.Asn1112Thr)
c.3416A>C (p.Asn1139Thr)
n.909A>C
c.3434A>C (p.Asn1145Thr)
n.3807A>C
n.534A>C
c.2603A>C (p.Asn868Thr)
c.2378A>C (p.Asn793Thr)
c.3473A>C (p.Asn1158Thr)
c.1446A>C
c.*769A>C (n.*769A>C)
n.4412A>C
n.3013A>C
c.3524A>C (p.Asn1175Thr)
c.3572A>C (p.Asn1191Thr)
c.3632A>C (p.Asn1211Thr)
c.3182A>C (p.Asn1061Thr)
c.1484A>C (p.Asn495Thr)
c.1301A>C (p.Asn434Thr)
c.3533A>C (p.Asn1178Thr)
c.3485A>C (p.Asn1162Thr)
c.3254A>C (p.Asn1085Thr)
c.3155A>C (p.Asn1052Thr)
c.2336A>C (p.Asn779Thr)
n.3887A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51939082T=CA2091556708ATP7Bc.*1318A= (n.*1318A=)
c.*2412A= (n.*2412A=)
c.3047A= (p.Asn1016=)
c.3668A= (p.Asn1223=)
c.3335A= (p.Asn1112=)
c.3416A= (p.Asn1139=)
n.909A=
c.3434A= (p.Asn1145=)
n.3807A=
n.534A=
c.2603A= (p.Asn868=)
c.2378A= (p.Asn793=)
c.3473A= (p.Asn1158=)
c.1446A=
c.*769A= (n.*769A=)
n.4412A=
n.3013A=
c.3524A= (p.Asn1175=)
c.3572A= (p.Asn1191=)
c.3632A= (p.Asn1211=)
c.3182A= (p.Asn1061=)
c.1484A= (p.Asn495=)
c.1301A= (p.Asn434=)
c.3533A= (p.Asn1178=)
c.3485A= (p.Asn1162=)
c.3254A= (p.Asn1085=)
c.3155A= (p.Asn1052=)
c.2336A= (p.Asn779=)
n.3887A=
13g.51939083T>ACA388023772ATP7Bc.*1317A>T (n.*1317A>T)
c.*2411A>T (n.*2411A>T)
c.3046A>T (p.Asn1016Tyr)
c.3667A>T (p.Asn1223Tyr)
c.3334A>T (p.Asn1112Tyr)
c.3415A>T (p.Asn1139Tyr)
n.908A>T
c.3433A>T (p.Asn1145Tyr)
n.3806A>T
n.533A>T
c.2602A>T (p.Asn868Tyr)
c.2377A>T (p.Asn793Tyr)
c.3472A>T (p.Asn1158Tyr)
c.1445A>T
c.*768A>T (n.*768A>T)
n.4411A>T
n.3012A>T
c.3523A>T (p.Asn1175Tyr)
c.3571A>T (p.Asn1191Tyr)
c.3631A>T (p.Asn1211Tyr)
c.3181A>T (p.Asn1061Tyr)
c.1483A>T (p.Asn495Tyr)
c.1300A>T (p.Asn434Tyr)
c.3532A>T (p.Asn1178Tyr)
c.3484A>T (p.Asn1162Tyr)
c.3253A>T (p.Asn1085Tyr)
c.3154A>T (p.Asn1052Tyr)
c.2335A>T (p.Asn779Tyr)
n.3886A>T
13g.51939083T>CCA388023774ATP7Bc.*1317A>G (n.*1317A>G)
c.*2411A>G (n.*2411A>G)
c.3046A>G (p.Asn1016Asp)
c.3667A>G (p.Asn1223Asp)
c.3334A>G (p.Asn1112Asp)
c.3415A>G (p.Asn1139Asp)
n.908A>G
c.3433A>G (p.Asn1145Asp)
n.3806A>G
n.533A>G
c.2602A>G (p.Asn868Asp)
c.2377A>G (p.Asn793Asp)
c.3472A>G (p.Asn1158Asp)
c.1445A>G
c.*768A>G (n.*768A>G)
n.4411A>G
n.3012A>G
c.3523A>G (p.Asn1175Asp)
c.3571A>G (p.Asn1191Asp)
c.3631A>G (p.Asn1211Asp)
c.3181A>G (p.Asn1061Asp)
c.1483A>G (p.Asn495Asp)
c.1300A>G (p.Asn434Asp)
c.3532A>G (p.Asn1178Asp)
c.3484A>G (p.Asn1162Asp)
c.3253A>G (p.Asn1085Asp)
c.3154A>G (p.Asn1052Asp)
c.2335A>G (p.Asn779Asp)
n.3886A>G
 gnomAD v4
13g.51939083T>GCA388023776ATP7Bc.*1317A>C (n.*1317A>C)
c.*2411A>C (n.*2411A>C)
c.3046A>C (p.Asn1016His)
c.3667A>C (p.Asn1223His)
c.3334A>C (p.Asn1112His)
c.3415A>C (p.Asn1139His)
n.908A>C
c.3433A>C (p.Asn1145His)
n.3806A>C
n.533A>C
c.2602A>C (p.Asn868His)
c.2377A>C (p.Asn793His)
c.3472A>C (p.Asn1158His)
c.1445A>C
c.*768A>C (n.*768A>C)
n.4411A>C
n.3012A>C
c.3523A>C (p.Asn1175His)
c.3571A>C (p.Asn1191His)
c.3631A>C (p.Asn1211His)
c.3181A>C (p.Asn1061His)
c.1483A>C (p.Asn495His)
c.1300A>C (p.Asn434His)
c.3532A>C (p.Asn1178His)
c.3484A>C (p.Asn1162His)
c.3253A>C (p.Asn1085His)
c.3154A>C (p.Asn1052His)
c.2335A>C (p.Asn779His)
n.3886A>C
13g.51939084G>ACA483893688ATP7Bc.*1316C>T (n.*1316C>T)
c.*2410C>T (n.*2410C>T)
c.3045C>T (p.Asp1015=)
c.3666C>T (p.Asp1222=)
c.3333C>T (p.Asp1111=)
c.3414C>T (p.Asp1138=)
n.907C>T
c.3432C>T (p.Asp1144=)
n.3805C>T
n.532C>T
c.2601C>T (p.Asp867=)
c.2376C>T (p.Asp792=)
c.3471C>T (p.Asp1157=)
c.1444C>T
c.*767C>T (n.*767C>T)
n.4410C>T
n.3011C>T
c.3522C>T (p.Asp1174=)
c.3570C>T (p.Asp1190=)
c.3630C>T (p.Asp1210=)
c.3180C>T (p.Asp1060=)
c.1482C>T (p.Asp494=)
c.1299C>T (p.Asp433=)
c.3531C>T (p.Asp1177=)
c.3483C>T (p.Asp1161=)
c.3252C>T (p.Asp1084=)
c.3153C>T (p.Asp1051=)
c.2334C>T (p.Asp778=)
n.3885C>T
 gnomAD v4
13g.51939084G>CCA388023787ATP7Bc.*1316C>G (n.*1316C>G)
c.*2410C>G (n.*2410C>G)
c.3045C>G (p.Asp1015Glu)
c.3666C>G (p.Asp1222Glu)
c.3333C>G (p.Asp1111Glu)
c.3414C>G (p.Asp1138Glu)
n.907C>G
c.3432C>G (p.Asp1144Glu)
n.3805C>G
n.532C>G
c.2601C>G (p.Asp867Glu)
c.2376C>G (p.Asp792Glu)
c.3471C>G (p.Asp1157Glu)
c.1444C>G
c.*767C>G (n.*767C>G)
n.4410C>G
n.3011C>G
c.3522C>G (p.Asp1174Glu)
c.3570C>G (p.Asp1190Glu)
c.3630C>G (p.Asp1210Glu)
c.3180C>G (p.Asp1060Glu)
c.1482C>G (p.Asp494Glu)
c.1299C>G (p.Asp433Glu)
c.3531C>G (p.Asp1177Glu)
c.3483C>G (p.Asp1161Glu)
c.3252C>G (p.Asp1084Glu)
c.3153C>G (p.Asp1051Glu)
c.2334C>G (p.Asp778Glu)
n.3885C>G
13g.51939084G>TCA388023791ATP7Bc.*1316C>A (n.*1316C>A)
c.*2410C>A (n.*2410C>A)
c.3045C>A (p.Asp1015Glu)
c.3666C>A (p.Asp1222Glu)
c.3333C>A (p.Asp1111Glu)
c.3414C>A (p.Asp1138Glu)
n.907C>A
c.3432C>A (p.Asp1144Glu)
n.3805C>A
n.532C>A
c.2601C>A (p.Asp867Glu)
c.2376C>A (p.Asp792Glu)
c.3471C>A (p.Asp1157Glu)
c.1444C>A
c.*767C>A (n.*767C>A)
n.4410C>A
n.3011C>A
c.3522C>A (p.Asp1174Glu)
c.3570C>A (p.Asp1190Glu)
c.3630C>A (p.Asp1210Glu)
c.3180C>A (p.Asp1060Glu)
c.1482C>A (p.Asp494Glu)
c.1299C>A (p.Asp433Glu)
c.3531C>A (p.Asp1177Glu)
c.3483C>A (p.Asp1161Glu)
c.3252C>A (p.Asp1084Glu)
c.3153C>A (p.Asp1051Glu)
c.2334C>A (p.Asp778Glu)
n.3885C>A
13g.51939085delCA2580087724ATP7Bc.*1315del (n.*1315del)
c.*2409del (n.*2409del)
c.3044del (p.Asp1015AlafsTer?)
c.3665del (p.Asp1222AlafsTer?)
c.3332del (p.Asp1111AlafsTer?)
c.3413del (p.Asp1138AlafsTer?)
n.906del
c.3431del (p.Asp1144AlafsTer?)
n.3804del
n.531del
c.2600del (p.Asp867AlafsTer?)
c.2375del (p.Asp792AlafsTer?)
c.3470del (p.Asp1157AlafsTer?)
c.1443del
c.*766del (n.*766del)
n.4409del
n.3010del
c.3521del (p.Asp1174AlafsTer?)
c.3569del (p.Asp1190AlafsTer?)
c.3629del (p.Asp1210AlafsTer?)
c.3179del (p.Asp1060AlafsTer?)
c.1481del (p.Asp494AlafsTer?)
c.1298del (p.Asp433AlafsTer?)
c.3530del (p.Asp1177AlafsTer?)
c.3482del (p.Asp1161AlafsTer?)
c.3251del (p.Asp1084AlafsTer?)
c.3152del (p.Asp1051AlafsTer?)
c.2333del (p.Asp778AlafsTer?)
n.3884del
 ClinVar
13g.51939085T>ACA388023795ATP7Bc.*1315A>T (n.*1315A>T)
c.*2409A>T (n.*2409A>T)
c.3044A>T (p.Asp1015Val)
c.3665A>T (p.Asp1222Val)
c.3332A>T (p.Asp1111Val)
c.3413A>T (p.Asp1138Val)
n.906A>T
c.3431A>T (p.Asp1144Val)
n.3804A>T
n.531A>T
c.2600A>T (p.Asp867Val)
c.2375A>T (p.Asp792Val)
c.3470A>T (p.Asp1157Val)
c.1443A>T
c.*766A>T (n.*766A>T)
n.4409A>T
n.3010A>T
c.3521A>T (p.Asp1174Val)
c.3569A>T (p.Asp1190Val)
c.3629A>T (p.Asp1210Val)
c.3179A>T (p.Asp1060Val)
c.1481A>T (p.Asp494Val)
c.1298A>T (p.Asp433Val)
c.3530A>T (p.Asp1177Val)
c.3482A>T (p.Asp1161Val)
c.3251A>T (p.Asp1084Val)
c.3152A>T (p.Asp1051Val)
c.2333A>T (p.Asp778Val)
n.3884A>T
13g.51939085T>CCA388023802ATP7Bc.*1315A>G (n.*1315A>G)
c.*2409A>G (n.*2409A>G)
c.3044A>G (p.Asp1015Gly)
c.3665A>G (p.Asp1222Gly)
c.3332A>G (p.Asp1111Gly)
c.3413A>G (p.Asp1138Gly)
n.906A>G
c.3431A>G (p.Asp1144Gly)
n.3804A>G
n.531A>G
c.2600A>G (p.Asp867Gly)
c.2375A>G (p.Asp792Gly)
c.3470A>G (p.Asp1157Gly)
c.1443A>G
c.*766A>G (n.*766A>G)
n.4409A>G
n.3010A>G
c.3521A>G (p.Asp1174Gly)
c.3569A>G (p.Asp1190Gly)
c.3629A>G (p.Asp1210Gly)
c.3179A>G (p.Asp1060Gly)
c.1481A>G (p.Asp494Gly)
c.1298A>G (p.Asp433Gly)
c.3530A>G (p.Asp1177Gly)
c.3482A>G (p.Asp1161Gly)
c.3251A>G (p.Asp1084Gly)
c.3152A>G (p.Asp1051Gly)
c.2333A>G (p.Asp778Gly)
n.3884A>G
 gnomAD v4
13g.51939085T>GCA388023805ATP7Bc.*1315A>C (n.*1315A>C)
c.*2409A>C (n.*2409A>C)
c.3044A>C (p.Asp1015Ala)
c.3665A>C (p.Asp1222Ala)
c.3332A>C (p.Asp1111Ala)
c.3413A>C (p.Asp1138Ala)
n.906A>C
c.3431A>C (p.Asp1144Ala)
n.3804A>C
n.531A>C
c.2600A>C (p.Asp867Ala)
c.2375A>C (p.Asp792Ala)
c.3470A>C (p.Asp1157Ala)
c.1443A>C
c.*766A>C (n.*766A>C)
n.4409A>C
n.3010A>C
c.3521A>C (p.Asp1174Ala)
c.3569A>C (p.Asp1190Ala)
c.3629A>C (p.Asp1210Ala)
c.3179A>C (p.Asp1060Ala)
c.1481A>C (p.Asp494Ala)
c.1298A>C (p.Asp433Ala)
c.3530A>C (p.Asp1177Ala)
c.3482A>C (p.Asp1161Ala)
c.3251A>C (p.Asp1084Ala)
c.3152A>C (p.Asp1051Ala)
c.2333A>C (p.Asp778Ala)
n.3884A>C
13g.51939085_51939088delCA912974793ATP7Bc.*1312_*1315del (n.*1312_*1315del)
c.*2406_*2409del (n.*2406_*2409del)
c.3041_3044del (p.Gly1014AlafsTer?)
c.3662_3665del (p.Gly1221AlafsTer?)
c.3329_3332del (p.Gly1110AlafsTer?)
c.3410_3413del (p.Gly1137AlafsTer?)
n.903_906del
c.3428_3431del (p.Gly1143AlafsTer?)
n.3801_3804del
n.528_531del
c.2597_2600del (p.Gly866AlafsTer?)
c.2372_2375del (p.Gly791AlafsTer?)
c.3467_3470del (p.Gly1156AlafsTer?)
c.1440_1443del
c.*763_*766del (n.*763_*766del)
n.4406_4409del
n.3007_3010del
c.3518_3521del (p.Gly1173AlafsTer?)
c.3566_3569del (p.Gly1189AlafsTer?)
c.3626_3629del (p.Gly1209AlafsTer?)
c.3176_3179del (p.Gly1059AlafsTer?)
c.1478_1481del (p.Gly493AlafsTer?)
c.1295_1298del (p.Gly432AlafsTer?)
c.3527_3530del (p.Gly1176AlafsTer?)
c.3479_3482del (p.Gly1160AlafsTer?)
c.3248_3251del (p.Gly1083AlafsTer?)
c.3149_3152del (p.Gly1050AlafsTer?)
c.2330_2333del (p.Gly777AlafsTer?)
n.3881_3884del
13g.51939085_51939088delinsTCCCCA2091556711ATP7Bc.*1312_*1315delinsGGGA (n.*1312_*1315delinsGGGA)
c.*2406_*2409delinsGGGA (n.*2406_*2409delinsGGGA)
c.3041_3044delinsGGGA (p.Gly1014=)
c.3662_3665delinsGGGA (p.Gly1221=)
c.3329_3332delinsGGGA (p.Gly1110=)
c.3410_3413delinsGGGA (p.Gly1137=)
n.903_906delinsGGGA
c.3428_3431delinsGGGA (p.Gly1143=)
n.3801_3804delinsGGGA
n.528_531delinsGGGA
c.2597_2600delinsGGGA (p.Gly866=)
c.2372_2375delinsGGGA (p.Gly791=)
c.3467_3470delinsGGGA (p.Gly1156=)
c.1440_1443delinsGGGA
c.*763_*766delinsGGGA (n.*763_*766delinsGGGA)
n.4406_4409delinsGGGA
n.3007_3010delinsGGGA
c.3518_3521delinsGGGA (p.Gly1173=)
c.3566_3569delinsGGGA (p.Gly1189=)
c.3626_3629delinsGGGA (p.Gly1209=)
c.3176_3179delinsGGGA (p.Gly1059=)
c.1478_1481delinsGGGA (p.Gly493=)
c.1295_1298delinsGGGA (p.Gly432=)
c.3527_3530delinsGGGA (p.Gly1176=)
c.3479_3482delinsGGGA (p.Gly1160=)
c.3248_3251delinsGGGA (p.Gly1083=)
c.3149_3152delinsGGGA (p.Gly1050=)
c.2330_2333delinsGGGA (p.Gly777=)
n.3881_3884delinsGGGA
13g.51939086C>ACA388023820ATP7Bc.*1314G>T (n.*1314G>T)
c.*2408G>T (n.*2408G>T)
c.3043G>T (p.Asp1015Tyr)
c.3664G>T (p.Asp1222Tyr)
c.3331G>T (p.Asp1111Tyr)
c.3412G>T (p.Asp1138Tyr)
n.905G>T
c.3430G>T (p.Asp1144Tyr)
n.3803G>T
n.530G>T
c.2599G>T (p.Asp867Tyr)
c.2374G>T (p.Asp792Tyr)
c.3469G>T (p.Asp1157Tyr)
c.1442G>T
c.*765G>T (n.*765G>T)
n.4408G>T
n.3009G>T
c.3520G>T (p.Asp1174Tyr)
c.3568G>T (p.Asp1190Tyr)
c.3628G>T (p.Asp1210Tyr)
c.3178G>T (p.Asp1060Tyr)
c.1480G>T (p.Asp494Tyr)
c.1297G>T (p.Asp433Tyr)
c.3529G>T (p.Asp1177Tyr)
c.3481G>T (p.Asp1161Tyr)
c.3250G>T (p.Asp1084Tyr)
c.3151G>T (p.Asp1051Tyr)
c.2332G>T (p.Asp778Tyr)
n.3883G>T
13g.51939086C>GCA388023817ATP7Bc.*1314G>C (n.*1314G>C)
c.*2408G>C (n.*2408G>C)
c.3043G>C (p.Asp1015His)
c.3664G>C (p.Asp1222His)
c.3331G>C (p.Asp1111His)
c.3412G>C (p.Asp1138His)
n.905G>C
c.3430G>C (p.Asp1144His)
n.3803G>C
n.530G>C
c.2599G>C (p.Asp867His)
c.2374G>C (p.Asp792His)
c.3469G>C (p.Asp1157His)
c.1442G>C
c.*765G>C (n.*765G>C)
n.4408G>C
n.3009G>C
c.3520G>C (p.Asp1174His)
c.3568G>C (p.Asp1190His)
c.3628G>C (p.Asp1210His)
c.3178G>C (p.Asp1060His)
c.1480G>C (p.Asp494His)
c.1297G>C (p.Asp433His)
c.3529G>C (p.Asp1177His)
c.3481G>C (p.Asp1161His)
c.3250G>C (p.Asp1084His)
c.3151G>C (p.Asp1051His)
c.2332G>C (p.Asp778His)
n.3883G>C
13g.51939086C>TCA388023808ATP7Bc.*1314G>A (n.*1314G>A)
c.*2408G>A (n.*2408G>A)
c.3043G>A (p.Asp1015Asn)
c.3664G>A (p.Asp1222Asn)
c.3331G>A (p.Asp1111Asn)
c.3412G>A (p.Asp1138Asn)
n.905G>A
c.3430G>A (p.Asp1144Asn)
n.3803G>A
n.530G>A
c.2599G>A (p.Asp867Asn)
c.2374G>A (p.Asp792Asn)
c.3469G>A (p.Asp1157Asn)
c.1442G>A
c.*765G>A (n.*765G>A)
n.4408G>A
n.3009G>A
c.3520G>A (p.Asp1174Asn)
c.3568G>A (p.Asp1190Asn)
c.3628G>A (p.Asp1210Asn)
c.3178G>A (p.Asp1060Asn)
c.1480G>A (p.Asp494Asn)
c.1297G>A (p.Asp433Asn)
c.3529G>A (p.Asp1177Asn)
c.3481G>A (p.Asp1161Asn)
c.3250G>A (p.Asp1084Asn)
c.3151G>A (p.Asp1051Asn)
c.2332G>A (p.Asp778Asn)
n.3883G>A
 ClinVar dbSNP
13g.51939090dupCA2573149700ATP7Bc.*1314dup (n.*1314dup)
c.*2408dup (n.*2408dup)
c.3043dup (p.Asp1015GlyfsTer?)
c.3664dup (p.Asp1222GlyfsTer?)
c.3331dup (p.Asp1111GlyfsTer?)
c.3412dup (p.Asp1138GlyfsTer?)
n.905dup
c.3430dup (p.Asp1144GlyfsTer?)
n.3803dup
n.530dup
c.2599dup (p.Asp867GlyfsTer?)
c.2374dup (p.Asp792GlyfsTer?)
c.3469dup (p.Asp1157GlyfsTer?)
c.1442dup
c.*765dup (n.*765dup)
n.4408dup
n.3009dup
c.3520dup (p.Asp1174GlyfsTer?)
c.3568dup (p.Asp1190GlyfsTer?)
c.3628dup (p.Asp1210GlyfsTer?)
c.3178dup (p.Asp1060GlyfsTer?)
c.1480dup (p.Asp494GlyfsTer?)
c.1297dup (p.Asp433GlyfsTer?)
c.3529dup (p.Asp1177GlyfsTer?)
c.3481dup (p.Asp1161GlyfsTer?)
c.3250dup (p.Asp1084GlyfsTer?)
c.3151dup (p.Asp1051GlyfsTer?)
c.2332dup (p.Asp778GlyfsTer?)
n.3883dup
 ClinVar dbSNP
13g.51939090delCA10604343ATP7Bc.*1314del (n.*1314del)
c.*2408del (n.*2408del)
c.3043del (p.Asp1015ThrfsTer?)
c.3664del (p.Asp1222ThrfsTer?)
c.3331del (p.Asp1111ThrfsTer?)
c.3412del (p.Asp1138ThrfsTer?)
n.905del
c.3430del (p.Asp1144ThrfsTer?)
n.3803del
n.530del
c.2599del (p.Asp867ThrfsTer?)
c.2374del (p.Asp792ThrfsTer?)
c.3469del (p.Asp1157ThrfsTer?)
c.1442del
c.*765del (n.*765del)
n.4408del
n.3009del
c.3520del (p.Asp1174ThrfsTer?)
c.3568del (p.Asp1190ThrfsTer?)
c.3628del (p.Asp1210ThrfsTer?)
c.3178del (p.Asp1060ThrfsTer?)
c.1480del (p.Asp494ThrfsTer?)
c.1297del (p.Asp433ThrfsTer?)
c.3529del (p.Asp1177ThrfsTer?)
c.3481del (p.Asp1161ThrfsTer?)
c.3250del (p.Asp1084ThrfsTer?)
c.3151del (p.Asp1051ThrfsTer?)
c.2332del (p.Asp778ThrfsTer?)
n.3883del
 ClinVar dbSNP
13g.51939089_51939090delCA2695218768ATP7Bc.*1313_*1314del (n.*1313_*1314del)
c.*2407_*2408del (n.*2407_*2408del)
c.3042_3043del (p.Asp1015GlnfsTer?)
c.3663_3664del (p.Asp1222GlnfsTer?)
c.3330_3331del (p.Asp1111GlnfsTer?)
c.3411_3412del (p.Asp1138GlnfsTer?)
n.904_905del
c.3429_3430del (p.Asp1144GlnfsTer?)
n.3802_3803del
n.529_530del
c.2598_2599del (p.Asp867GlnfsTer?)
c.2373_2374del (p.Asp792GlnfsTer?)
c.3468_3469del (p.Asp1157GlnfsTer?)
c.1441_1442del
c.*764_*765del (n.*764_*765del)
n.4407_4408del
n.3008_3009del
c.3519_3520del (p.Asp1174GlnfsTer?)
c.3567_3568del (p.Asp1190GlnfsTer?)
c.3627_3628del (p.Asp1210GlnfsTer?)
c.3177_3178del (p.Asp1060GlnfsTer?)
c.1479_1480del (p.Asp494GlnfsTer?)
c.1296_1297del (p.Asp433GlnfsTer?)
c.3528_3529del (p.Asp1177GlnfsTer?)
c.3480_3481del (p.Asp1161GlnfsTer?)
c.3249_3250del (p.Asp1084GlnfsTer?)
c.3150_3151del (p.Asp1051GlnfsTer?)
c.2331_2332del (p.Asp778GlnfsTer?)
n.3882_3883del
13g.51939088_51939090delCA658823699ATP7Bc.*1312_*1314del (n.*1312_*1314del)
c.*2406_*2408del (n.*2406_*2408del)
c.3041_3043del (p.Gly1014del)
c.3662_3664del (p.Gly1221del)
c.3329_3331del (p.Gly1110del)
c.3410_3412del (p.Gly1137del)
n.903_905del
c.3428_3430del (p.Gly1143del)
n.3801_3803del
n.528_530del
c.2597_2599del (p.Gly866del)
c.2372_2374del (p.Gly791del)
c.3467_3469del (p.Gly1156del)
c.1440_1442del
c.*763_*765del (n.*763_*765del)
n.4406_4408del
n.3007_3009del
c.3518_3520del (p.Gly1173del)
c.3566_3568del (p.Gly1189del)
c.3626_3628del (p.Gly1209del)
c.3176_3178del (p.Gly1059del)
c.1478_1480del (p.Gly493del)
c.1295_1297del (p.Gly432del)
c.3527_3529del (p.Gly1176del)
c.3479_3481del (p.Gly1160del)
c.3248_3250del (p.Gly1083del)
c.3149_3151del (p.Gly1050del)
c.2330_2332del (p.Gly777del)
n.3881_3883del
 ClinVar dbSNP
13g.51939087C>ACA483893697ATP7Bc.*1313G>T (n.*1313G>T)
c.*2407G>T (n.*2407G>T)
c.3042G>T (p.Gly1014=)
c.3663G>T (p.Gly1221=)
c.3330G>T (p.Gly1110=)
c.3411G>T (p.Gly1137=)
n.904G>T
c.3429G>T (p.Gly1143=)
n.3802G>T
n.529G>T
c.2598G>T (p.Gly866=)
c.2373G>T (p.Gly791=)
c.3468G>T (p.Gly1156=)
c.1441G>T
c.*764G>T (n.*764G>T)
n.4407G>T
n.3008G>T
c.3519G>T (p.Gly1173=)
c.3567G>T (p.Gly1189=)
c.3627G>T (p.Gly1209=)
c.3177G>T (p.Gly1059=)
c.1479G>T (p.Gly493=)
c.1296G>T (p.Gly432=)
c.3528G>T (p.Gly1176=)
c.3480G>T (p.Gly1160=)
c.3249G>T (p.Gly1083=)
c.3150G>T (p.Gly1050=)
c.2331G>T (p.Gly777=)
n.3882G>T
 COSMIC
13g.51939087C>GCA483893698ATP7Bc.*1313G>C (n.*1313G>C)
c.*2407G>C (n.*2407G>C)
c.3042G>C (p.Gly1014=)
c.3663G>C (p.Gly1221=)
c.3330G>C (p.Gly1110=)
c.3411G>C (p.Gly1137=)
n.904G>C
c.3429G>C (p.Gly1143=)
n.3802G>C
n.529G>C
c.2598G>C (p.Gly866=)
c.2373G>C (p.Gly791=)
c.3468G>C (p.Gly1156=)
c.1441G>C
c.*764G>C (n.*764G>C)
n.4407G>C
n.3008G>C
c.3519G>C (p.Gly1173=)
c.3567G>C (p.Gly1189=)
c.3627G>C (p.Gly1209=)
c.3177G>C (p.Gly1059=)
c.1479G>C (p.Gly493=)
c.1296G>C (p.Gly432=)
c.3528G>C (p.Gly1176=)
c.3480G>C (p.Gly1160=)
c.3249G>C (p.Gly1083=)
c.3150G>C (p.Gly1050=)
c.2331G>C (p.Gly777=)
n.3882G>C
13g.51939087C>TCA483893699ATP7Bc.*1313G>A (n.*1313G>A)
c.*2407G>A (n.*2407G>A)
c.3042G>A (p.Gly1014=)
c.3663G>A (p.Gly1221=)
c.3330G>A (p.Gly1110=)
c.3411G>A (p.Gly1137=)
n.904G>A
c.3429G>A (p.Gly1143=)
n.3802G>A
n.529G>A
c.2598G>A (p.Gly866=)
c.2373G>A (p.Gly791=)
c.3468G>A (p.Gly1156=)
c.1441G>A
c.*764G>A (n.*764G>A)
n.4407G>A
n.3008G>A
c.3519G>A (p.Gly1173=)
c.3567G>A (p.Gly1189=)
c.3627G>A (p.Gly1209=)
c.3177G>A (p.Gly1059=)
c.1479G>A (p.Gly493=)
c.1296G>A (p.Gly432=)
c.3528G>A (p.Gly1176=)
c.3480G>A (p.Gly1160=)
c.3249G>A (p.Gly1083=)
c.3150G>A (p.Gly1050=)
c.2331G>A (p.Gly777=)
n.3882G>A
13g.51939088C>ACA388023826ATP7Bc.*1312G>T (n.*1312G>T)
c.*2406G>T (n.*2406G>T)
c.3041G>T (p.Gly1014Val)
c.3662G>T (p.Gly1221Val)
c.3329G>T (p.Gly1110Val)
c.3410G>T (p.Gly1137Val)
n.903G>T
c.3428G>T (p.Gly1143Val)
n.3801G>T
n.528G>T
c.2597G>T (p.Gly866Val)
c.2372G>T (p.Gly791Val)
c.3467G>T (p.Gly1156Val)
c.1440G>T
c.*763G>T (n.*763G>T)
n.4406G>T
n.3007G>T
c.3518G>T (p.Gly1173Val)
c.3566G>T (p.Gly1189Val)
c.3626G>T (p.Gly1209Val)
c.3176G>T (p.Gly1059Val)
c.1478G>T (p.Gly493Val)
c.1295G>T (p.Gly432Val)
c.3527G>T (p.Gly1176Val)
c.3479G>T (p.Gly1160Val)
c.3248G>T (p.Gly1083Val)
c.3149G>T (p.Gly1050Val)
c.2330G>T (p.Gly777Val)
n.3881G>T
13g.51939088C=CA2091556725ATP7Bc.*1312G= (n.*1312G=)
c.*2406G= (n.*2406G=)
c.3041G= (p.Gly1014=)
c.3662G= (p.Gly1221=)
c.3329G= (p.Gly1110=)
c.3410G= (p.Gly1137=)
n.903G=
c.3428G= (p.Gly1143=)
n.3801G=
n.528G=
c.2597G= (p.Gly866=)
c.2372G= (p.Gly791=)
c.3467G= (p.Gly1156=)
c.1440G=
c.*763G= (n.*763G=)
n.4406G=
n.3007G=
c.3518G= (p.Gly1173=)
c.3566G= (p.Gly1189=)
c.3626G= (p.Gly1209=)
c.3176G= (p.Gly1059=)
c.1478G= (p.Gly493=)
c.1295G= (p.Gly432=)
c.3527G= (p.Gly1176=)
c.3479G= (p.Gly1160=)
c.3248G= (p.Gly1083=)
c.3149G= (p.Gly1050=)
c.2330G= (p.Gly777=)
n.3881G=
13g.51939088C>GCA388023828ATP7Bc.*1312G>C (n.*1312G>C)
c.*2406G>C (n.*2406G>C)
c.3041G>C (p.Gly1014Ala)
c.3662G>C (p.Gly1221Ala)
c.3329G>C (p.Gly1110Ala)
c.3410G>C (p.Gly1137Ala)
n.903G>C
c.3428G>C (p.Gly1143Ala)
n.3801G>C
n.528G>C
c.2597G>C (p.Gly866Ala)
c.2372G>C (p.Gly791Ala)
c.3467G>C (p.Gly1156Ala)
c.1440G>C
c.*763G>C (n.*763G>C)
n.4406G>C
n.3007G>C
c.3518G>C (p.Gly1173Ala)
c.3566G>C (p.Gly1189Ala)
c.3626G>C (p.Gly1209Ala)
c.3176G>C (p.Gly1059Ala)
c.1478G>C (p.Gly493Ala)
c.1295G>C (p.Gly432Ala)
c.3527G>C (p.Gly1176Ala)
c.3479G>C (p.Gly1160Ala)
c.3248G>C (p.Gly1083Ala)
c.3149G>C (p.Gly1050Ala)
c.2330G>C (p.Gly777Ala)
n.3881G>C
 dbSNP gnomAD v2 gnomAD v4
13g.51939088C>TCA388023832ATP7Bc.*1312G>A (n.*1312G>A)
c.*2406G>A (n.*2406G>A)
c.3041G>A (p.Gly1014Glu)
c.3662G>A (p.Gly1221Glu)
c.3329G>A (p.Gly1110Glu)
c.3410G>A (p.Gly1137Glu)
n.903G>A
c.3428G>A (p.Gly1143Glu)
n.3801G>A
n.528G>A
c.2597G>A (p.Gly866Glu)
c.2372G>A (p.Gly791Glu)
c.3467G>A (p.Gly1156Glu)
c.1440G>A
c.*763G>A (n.*763G>A)
n.4406G>A
n.3007G>A
c.3518G>A (p.Gly1173Glu)
c.3566G>A (p.Gly1189Glu)
c.3626G>A (p.Gly1209Glu)
c.3176G>A (p.Gly1059Glu)
c.1478G>A (p.Gly493Glu)
c.1295G>A (p.Gly432Glu)
c.3527G>A (p.Gly1176Glu)
c.3479G>A (p.Gly1160Glu)
c.3248G>A (p.Gly1083Glu)
c.3149G>A (p.Gly1050Glu)
c.2330G>A (p.Gly777Glu)
n.3881G>A
 ClinVar dbSNP gnomAD v4
13g.51939089C>ACA388023833ATP7Bc.*1311G>T (n.*1311G>T)
c.*2405G>T (n.*2405G>T)
c.3040G>T (p.Gly1014Trp)
c.3661G>T (p.Gly1221Trp)
c.3328G>T (p.Gly1110Trp)
c.3409G>T (p.Gly1137Trp)
n.902G>T
c.3427G>T (p.Gly1143Trp)
n.3800G>T
n.527G>T
c.2596G>T (p.Gly866Trp)
c.2371G>T (p.Gly791Trp)
c.3466G>T (p.Gly1156Trp)
c.1439G>T
c.*762G>T (n.*762G>T)
n.4405G>T
n.3006G>T
c.3517G>T (p.Gly1173Trp)
c.3565G>T (p.Gly1189Trp)
c.3625G>T (p.Gly1209Trp)
c.3175G>T (p.Gly1059Trp)
c.1477G>T (p.Gly493Trp)
c.1294G>T (p.Gly432Trp)
c.3526G>T (p.Gly1176Trp)
c.3478G>T (p.Gly1160Trp)
c.3247G>T (p.Gly1083Trp)
c.3148G>T (p.Gly1050Trp)
c.2329G>T (p.Gly777Trp)
n.3880G>T
13g.51939089C>GCA388023836ATP7Bc.*1311G>C (n.*1311G>C)
c.*2405G>C (n.*2405G>C)
c.3040G>C (p.Gly1014Arg)
c.3661G>C (p.Gly1221Arg)
c.3328G>C (p.Gly1110Arg)
c.3409G>C (p.Gly1137Arg)
n.902G>C
c.3427G>C (p.Gly1143Arg)
n.3800G>C
n.527G>C
c.2596G>C (p.Gly866Arg)
c.2371G>C (p.Gly791Arg)
c.3466G>C (p.Gly1156Arg)
c.1439G>C
c.*762G>C (n.*762G>C)
n.4405G>C
n.3006G>C
c.3517G>C (p.Gly1173Arg)
c.3565G>C (p.Gly1189Arg)
c.3625G>C (p.Gly1209Arg)
c.3175G>C (p.Gly1059Arg)
c.1477G>C (p.Gly493Arg)
c.1294G>C (p.Gly432Arg)
c.3526G>C (p.Gly1176Arg)
c.3478G>C (p.Gly1160Arg)
c.3247G>C (p.Gly1083Arg)
c.3148G>C (p.Gly1050Arg)
c.2329G>C (p.Gly777Arg)
n.3880G>C
 ClinVar
13g.51939089C>TCA388023838ATP7Bc.*1311G>A (n.*1311G>A)
c.*2405G>A (n.*2405G>A)
c.3040G>A (p.Gly1014Arg)
c.3661G>A (p.Gly1221Arg)
c.3328G>A (p.Gly1110Arg)
c.3409G>A (p.Gly1137Arg)
n.902G>A
c.3427G>A (p.Gly1143Arg)
n.3800G>A
n.527G>A
c.2596G>A (p.Gly866Arg)
c.2371G>A (p.Gly791Arg)
c.3466G>A (p.Gly1156Arg)
c.1439G>A
c.*762G>A (n.*762G>A)
n.4405G>A
n.3006G>A
c.3517G>A (p.Gly1173Arg)
c.3565G>A (p.Gly1189Arg)
c.3625G>A (p.Gly1209Arg)
c.3175G>A (p.Gly1059Arg)
c.1477G>A (p.Gly493Arg)
c.1294G>A (p.Gly432Arg)
c.3526G>A (p.Gly1176Arg)
c.3478G>A (p.Gly1160Arg)
c.3247G>A (p.Gly1083Arg)
c.3148G>A (p.Gly1050Arg)
c.2329G>A (p.Gly777Arg)
n.3880G>A
13g.51939090C>ACA483893706ATP7Bc.*1310G>T (n.*1310G>T)
c.*2404G>T (n.*2404G>T)
c.3039G>T (p.Thr1013=)
c.3660G>T (p.Thr1220=)
c.3327G>T (p.Thr1109=)
c.3408G>T (p.Thr1136=)
n.901G>T
c.3426G>T (p.Thr1142=)
n.3799G>T
n.526G>T
c.2595G>T (p.Thr865=)
c.2370G>T (p.Thr790=)
c.3465G>T (p.Thr1155=)
c.1438G>T
c.*761G>T (n.*761G>T)
n.4404G>T
n.3005G>T
c.3516G>T (p.Thr1172=)
c.3564G>T (p.Thr1188=)
c.3624G>T (p.Thr1208=)
c.3174G>T (p.Thr1058=)
c.1476G>T (p.Thr492=)
c.1293G>T (p.Thr431=)
c.3525G>T (p.Thr1175=)
c.3477G>T (p.Thr1159=)
c.3246G>T (p.Thr1082=)
c.3147G>T (p.Thr1049=)
c.2328G>T (p.Thr776=)
n.3879G>T
13g.51939090C=CA2091556727ATP7Bc.*1310G= (n.*1310G=)
c.*2404G= (n.*2404G=)
c.3039G= (p.Thr1013=)
c.3660G= (p.Thr1220=)
c.3327G= (p.Thr1109=)
c.3408G= (p.Thr1136=)
n.901G=
c.3426G= (p.Thr1142=)
n.3799G=
n.526G=
c.2595G= (p.Thr865=)
c.2370G= (p.Thr790=)
c.3465G= (p.Thr1155=)
c.1438G=
c.*761G= (n.*761G=)
n.4404G=
n.3005G=
c.3516G= (p.Thr1172=)
c.3564G= (p.Thr1188=)
c.3624G= (p.Thr1208=)
c.3174G= (p.Thr1058=)
c.1476G= (p.Thr492=)
c.1293G= (p.Thr431=)
c.3525G= (p.Thr1175=)
c.3477G= (p.Thr1159=)
c.3246G= (p.Thr1082=)
c.3147G= (p.Thr1049=)
c.2328G= (p.Thr776=)
n.3879G=
13g.51939090C>GCA483893702ATP7Bc.*1310G>C (n.*1310G>C)
c.*2404G>C (n.*2404G>C)
c.3039G>C (p.Thr1013=)
c.3660G>C (p.Thr1220=)
c.3327G>C (p.Thr1109=)
c.3408G>C (p.Thr1136=)
n.901G>C
c.3426G>C (p.Thr1142=)
n.3799G>C
n.526G>C
c.2595G>C (p.Thr865=)
c.2370G>C (p.Thr790=)
c.3465G>C (p.Thr1155=)
c.1438G>C
c.*761G>C (n.*761G>C)
n.4404G>C
n.3005G>C
c.3516G>C (p.Thr1172=)
c.3564G>C (p.Thr1188=)
c.3624G>C (p.Thr1208=)
c.3174G>C (p.Thr1058=)
c.1476G>C (p.Thr492=)
c.1293G>C (p.Thr431=)
c.3525G>C (p.Thr1175=)
c.3477G>C (p.Thr1159=)
c.3246G>C (p.Thr1082=)
c.3147G>C (p.Thr1049=)
c.2328G>C (p.Thr776=)
n.3879G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51939090C>TCA483893704ATP7Bc.*1310G>A (n.*1310G>A)
c.*2404G>A (n.*2404G>A)
c.3039G>A (p.Thr1013=)
c.3660G>A (p.Thr1220=)
c.3327G>A (p.Thr1109=)
c.3408G>A (p.Thr1136=)
n.901G>A
c.3426G>A (p.Thr1142=)
n.3799G>A
n.526G>A
c.2595G>A (p.Thr865=)
c.2370G>A (p.Thr790=)
c.3465G>A (p.Thr1155=)
c.1438G>A
c.*761G>A (n.*761G>A)
n.4404G>A
n.3005G>A
c.3516G>A (p.Thr1172=)
c.3564G>A (p.Thr1188=)
c.3624G>A (p.Thr1208=)
c.3174G>A (p.Thr1058=)
c.1476G>A (p.Thr492=)
c.1293G>A (p.Thr431=)
c.3525G>A (p.Thr1175=)
c.3477G>A (p.Thr1159=)
c.3246G>A (p.Thr1082=)
c.3147G>A (p.Thr1049=)
c.2328G>A (p.Thr776=)
n.3879G>A
 ClinVar dbSNP gnomAD v4
13g.51939091G>ACA260145ATP7Bc.*1309C>T (n.*1309C>T)
c.*2403C>T (n.*2403C>T)
c.3038C>T (p.Thr1013Met)
c.3659C>T (p.Thr1220Met)
c.3326C>T (p.Thr1109Met)
c.3407C>T (p.Thr1136Met)
n.900C>T
c.3425C>T (p.Thr1142Met)
n.3798C>T
n.525C>T
c.2594C>T (p.Thr865Met)
c.2369C>T (p.Thr790Met)
c.3464C>T (p.Thr1155Met)
c.1437C>T
c.*760C>T (n.*760C>T)
n.4403C>T
n.3004C>T
c.3515C>T (p.Thr1172Met)
c.3563C>T (p.Thr1188Met)
c.3623C>T (p.Thr1208Met)
c.3173C>T (p.Thr1058Met)
c.1475C>T (p.Thr492Met)
c.1292C>T (p.Thr431Met)
c.3524C>T (p.Thr1175Met)
c.3476C>T (p.Thr1159Met)
c.3245C>T (p.Thr1082Met)
c.3146C>T (p.Thr1049Met)
c.2327C>T (p.Thr776Met)
n.3878C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51939091G>CCA388023844ATP7Bc.*1309C>G (n.*1309C>G)
c.*2403C>G (n.*2403C>G)
c.3038C>G (p.Thr1013Arg)
c.3659C>G (p.Thr1220Arg)
c.3326C>G (p.Thr1109Arg)
c.3407C>G (p.Thr1136Arg)
n.900C>G
c.3425C>G (p.Thr1142Arg)
n.3798C>G
n.525C>G
c.2594C>G (p.Thr865Arg)
c.2369C>G (p.Thr790Arg)
c.3464C>G (p.Thr1155Arg)
c.1437C>G
c.*760C>G (n.*760C>G)
n.4403C>G
n.3004C>G
c.3515C>G (p.Thr1172Arg)
c.3563C>G (p.Thr1188Arg)
c.3623C>G (p.Thr1208Arg)
c.3173C>G (p.Thr1058Arg)
c.1475C>G (p.Thr492Arg)
c.1292C>G (p.Thr431Arg)
c.3524C>G (p.Thr1175Arg)
c.3476C>G (p.Thr1159Arg)
c.3245C>G (p.Thr1082Arg)
c.3146C>G (p.Thr1049Arg)
c.2327C>G (p.Thr776Arg)
n.3878C>G
13g.51939091G=CA2091556734ATP7Bc.*1309C= (n.*1309C=)
c.*2403C= (n.*2403C=)
c.3038C= (p.Thr1013=)
c.3659C= (p.Thr1220=)
c.3326C= (p.Thr1109=)
c.3407C= (p.Thr1136=)
n.900C=
c.3425C= (p.Thr1142=)
n.3798C=
n.525C=
c.2594C= (p.Thr865=)
c.2369C= (p.Thr790=)
c.3464C= (p.Thr1155=)
c.1437C=
c.*760C= (n.*760C=)
n.4403C=
n.3004C=
c.3515C= (p.Thr1172=)
c.3563C= (p.Thr1188=)
c.3623C= (p.Thr1208=)
c.3173C= (p.Thr1058=)
c.1475C= (p.Thr492=)
c.1292C= (p.Thr431=)
c.3524C= (p.Thr1175=)
c.3476C= (p.Thr1159=)
c.3245C= (p.Thr1082=)
c.3146C= (p.Thr1049=)
c.2327C= (p.Thr776=)
n.3878C=
13g.51939091G>TCA388023848ATP7Bc.*1309C>A (n.*1309C>A)
c.*2403C>A (n.*2403C>A)
c.3038C>A (p.Thr1013Lys)
c.3659C>A (p.Thr1220Lys)
c.3326C>A (p.Thr1109Lys)
c.3407C>A (p.Thr1136Lys)
n.900C>A
c.3425C>A (p.Thr1142Lys)
n.3798C>A
n.525C>A
c.2594C>A (p.Thr865Lys)
c.2369C>A (p.Thr790Lys)
c.3464C>A (p.Thr1155Lys)
c.1437C>A
c.*760C>A (n.*760C>A)
n.4403C>A
n.3004C>A
c.3515C>A (p.Thr1172Lys)
c.3563C>A (p.Thr1188Lys)
c.3623C>A (p.Thr1208Lys)
c.3173C>A (p.Thr1058Lys)
c.1475C>A (p.Thr492Lys)
c.1292C>A (p.Thr431Lys)
c.3524C>A (p.Thr1175Lys)
c.3476C>A (p.Thr1159Lys)
c.3245C>A (p.Thr1082Lys)
c.3146C>A (p.Thr1049Lys)
c.2327C>A (p.Thr776Lys)
n.3878C>A
13g.51939092T>ACA388023851ATP7Bc.*1308A>T (n.*1308A>T)
c.*2402A>T (n.*2402A>T)
c.3037A>T (p.Thr1013Ser)
c.3658A>T (p.Thr1220Ser)
c.3325A>T (p.Thr1109Ser)
c.3406A>T (p.Thr1136Ser)
n.899A>T
c.3424A>T (p.Thr1142Ser)
n.3797A>T
n.524A>T
c.2593A>T (p.Thr865Ser)
c.2368A>T (p.Thr790Ser)
c.3463A>T (p.Thr1155Ser)
c.1436A>T
c.*759A>T (n.*759A>T)
n.4402A>T
n.3003A>T
c.3514A>T (p.Thr1172Ser)
c.3562A>T (p.Thr1188Ser)
c.3622A>T (p.Thr1208Ser)
c.3172A>T (p.Thr1058Ser)
c.1474A>T (p.Thr492Ser)
c.1291A>T (p.Thr431Ser)
c.3523A>T (p.Thr1175Ser)
c.3475A>T (p.Thr1159Ser)
c.3244A>T (p.Thr1082Ser)
c.3145A>T (p.Thr1049Ser)
c.2326A>T (p.Thr776Ser)
n.3877A>T
13g.51939092T>CCA388023854ATP7Bc.*1308A>G (n.*1308A>G)
c.*2402A>G (n.*2402A>G)
c.3037A>G (p.Thr1013Ala)
c.3658A>G (p.Thr1220Ala)
c.3325A>G (p.Thr1109Ala)
c.3406A>G (p.Thr1136Ala)
n.899A>G
c.3424A>G (p.Thr1142Ala)
n.3797A>G
n.524A>G
c.2593A>G (p.Thr865Ala)
c.2368A>G (p.Thr790Ala)
c.3463A>G (p.Thr1155Ala)
c.1436A>G
c.*759A>G (n.*759A>G)
n.4402A>G
n.3003A>G
c.3514A>G (p.Thr1172Ala)
c.3562A>G (p.Thr1188Ala)
c.3622A>G (p.Thr1208Ala)
c.3172A>G (p.Thr1058Ala)
c.1474A>G (p.Thr492Ala)
c.1291A>G (p.Thr431Ala)
c.3523A>G (p.Thr1175Ala)
c.3475A>G (p.Thr1159Ala)
c.3244A>G (p.Thr1082Ala)
c.3145A>G (p.Thr1049Ala)
c.2326A>G (p.Thr776Ala)
n.3877A>G
13g.51939092T>GCA388023861ATP7Bc.*1308A>C (n.*1308A>C)
c.*2402A>C (n.*2402A>C)
c.3037A>C (p.Thr1013Pro)
c.3658A>C (p.Thr1220Pro)
c.3325A>C (p.Thr1109Pro)
c.3406A>C (p.Thr1136Pro)
n.899A>C
c.3424A>C (p.Thr1142Pro)
n.3797A>C
n.524A>C
c.2593A>C (p.Thr865Pro)
c.2368A>C (p.Thr790Pro)
c.3463A>C (p.Thr1155Pro)
c.1436A>C
c.*759A>C (n.*759A>C)
n.4402A>C
n.3003A>C
c.3514A>C (p.Thr1172Pro)
c.3562A>C (p.Thr1188Pro)
c.3622A>C (p.Thr1208Pro)
c.3172A>C (p.Thr1058Pro)
c.1474A>C (p.Thr492Pro)
c.1291A>C (p.Thr431Pro)
c.3523A>C (p.Thr1175Pro)
c.3475A>C (p.Thr1159Pro)
c.3244A>C (p.Thr1082Pro)
c.3145A>C (p.Thr1049Pro)
c.2326A>C (p.Thr776Pro)
n.3877A>C
13g.51939093G>ACA483893714ATP7Bc.*1307C>T (n.*1307C>T)
c.*2401C>T (n.*2401C>T)
c.3036C>T (p.Ile1012=)
c.3657C>T (p.Ile1219=)
c.3324C>T (p.Ile1108=)
c.3405C>T (p.Ile1135=)
n.898C>T
c.3423C>T (p.Ile1141=)
n.3796C>T
n.523C>T
c.2592C>T (p.Ile864=)
c.2367C>T (p.Ile789=)
c.3462C>T (p.Ile1154=)
c.1435C>T
c.*758C>T (n.*758C>T)
n.4401C>T
n.3002C>T
c.3513C>T (p.Ile1171=)
c.3561C>T (p.Ile1187=)
c.3621C>T (p.Ile1207=)
c.3171C>T (p.Ile1057=)
c.1473C>T (p.Ile491=)
c.1290C>T (p.Ile430=)
c.3522C>T (p.Ile1174=)
c.3474C>T (p.Ile1158=)
c.3243C>T (p.Ile1081=)
c.3144C>T (p.Ile1048=)
c.2325C>T (p.Ile775=)
n.3876C>T
 gnomAD v4
13g.51939093G>CCA388023863ATP7Bc.*1307C>G (n.*1307C>G)
c.*2401C>G (n.*2401C>G)
c.3036C>G (p.Ile1012Met)
c.3657C>G (p.Ile1219Met)
c.3324C>G (p.Ile1108Met)
c.3405C>G (p.Ile1135Met)
n.898C>G
c.3423C>G (p.Ile1141Met)
n.3796C>G
n.523C>G
c.2592C>G (p.Ile864Met)
c.2367C>G (p.Ile789Met)
c.3462C>G (p.Ile1154Met)
c.1435C>G
c.*758C>G (n.*758C>G)
n.4401C>G
n.3002C>G
c.3513C>G (p.Ile1171Met)
c.3561C>G (p.Ile1187Met)
c.3621C>G (p.Ile1207Met)
c.3171C>G (p.Ile1057Met)
c.1473C>G (p.Ile491Met)
c.1290C>G (p.Ile430Met)
c.3522C>G (p.Ile1174Met)
c.3474C>G (p.Ile1158Met)
c.3243C>G (p.Ile1081Met)
c.3144C>G (p.Ile1048Met)
c.2325C>G (p.Ile775Met)
n.3876C>G
13g.51939093G>TCA483893718ATP7Bc.*1307C>A (n.*1307C>A)
c.*2401C>A (n.*2401C>A)
c.3036C>A (p.Ile1012=)
c.3657C>A (p.Ile1219=)
c.3324C>A (p.Ile1108=)
c.3405C>A (p.Ile1135=)
n.898C>A
c.3423C>A (p.Ile1141=)
n.3796C>A
n.523C>A
c.2592C>A (p.Ile864=)
c.2367C>A (p.Ile789=)
c.3462C>A (p.Ile1154=)
c.1435C>A
c.*758C>A (n.*758C>A)
n.4401C>A
n.3002C>A
c.3513C>A (p.Ile1171=)
c.3561C>A (p.Ile1187=)
c.3621C>A (p.Ile1207=)
c.3171C>A (p.Ile1057=)
c.1473C>A (p.Ile491=)
c.1290C>A (p.Ile430=)
c.3522C>A (p.Ile1174=)
c.3474C>A (p.Ile1158=)
c.3243C>A (p.Ile1081=)
c.3144C>A (p.Ile1048=)
c.2325C>A (p.Ile775=)
n.3876C>A
13g.51939094A=CA2091556740ATP7Bc.*1306T= (n.*1306T=)
c.*2400T= (n.*2400T=)
c.3035T= (p.Ile1012=)
c.3656T= (p.Ile1219=)
c.3323T= (p.Ile1108=)
c.3404T= (p.Ile1135=)
n.897T=
c.3422T= (p.Ile1141=)
n.3795T=
n.522T=
c.2591T= (p.Ile864=)
c.2366T= (p.Ile789=)
c.3461T= (p.Ile1154=)
c.1434T=
c.*757T= (n.*757T=)
n.4400T=
n.3001T=
c.3512T= (p.Ile1171=)
c.3560T= (p.Ile1187=)
c.3620T= (p.Ile1207=)
c.3170T= (p.Ile1057=)
c.1472T= (p.Ile491=)
c.1289T= (p.Ile430=)
c.3521T= (p.Ile1174=)
c.3473T= (p.Ile1158=)
c.3242T= (p.Ile1081=)
c.3143T= (p.Ile1048=)
c.2324T= (p.Ile775=)
n.3875T=
13g.51939094A>CCA388023873ATP7Bc.*1306T>G (n.*1306T>G)
c.*2400T>G (n.*2400T>G)
c.3035T>G (p.Ile1012Ser)
c.3656T>G (p.Ile1219Ser)
c.3323T>G (p.Ile1108Ser)
c.3404T>G (p.Ile1135Ser)
n.897T>G
c.3422T>G (p.Ile1141Ser)
n.3795T>G
n.522T>G
c.2591T>G (p.Ile864Ser)
c.2366T>G (p.Ile789Ser)
c.3461T>G (p.Ile1154Ser)
c.1434T>G
c.*757T>G (n.*757T>G)
n.4400T>G
n.3001T>G
c.3512T>G (p.Ile1171Ser)
c.3560T>G (p.Ile1187Ser)
c.3620T>G (p.Ile1207Ser)
c.3170T>G (p.Ile1057Ser)
c.1472T>G (p.Ile491Ser)
c.1289T>G (p.Ile430Ser)
c.3521T>G (p.Ile1174Ser)
c.3473T>G (p.Ile1158Ser)
c.3242T>G (p.Ile1081Ser)
c.3143T>G (p.Ile1048Ser)
c.2324T>G (p.Ile775Ser)
n.3875T>G
13g.51939094A>GCA388023867ATP7Bc.*1306T>C (n.*1306T>C)
c.*2400T>C (n.*2400T>C)
c.3035T>C (p.Ile1012Thr)
c.3656T>C (p.Ile1219Thr)
c.3323T>C (p.Ile1108Thr)
c.3404T>C (p.Ile1135Thr)
n.897T>C
c.3422T>C (p.Ile1141Thr)
n.3795T>C
n.522T>C
c.2591T>C (p.Ile864Thr)
c.2366T>C (p.Ile789Thr)
c.3461T>C (p.Ile1154Thr)
c.1434T>C
c.*757T>C (n.*757T>C)
n.4400T>C
n.3001T>C
c.3512T>C (p.Ile1171Thr)
c.3560T>C (p.Ile1187Thr)
c.3620T>C (p.Ile1207Thr)
c.3170T>C (p.Ile1057Thr)
c.1472T>C (p.Ile491Thr)
c.1289T>C (p.Ile430Thr)
c.3521T>C (p.Ile1174Thr)
c.3473T>C (p.Ile1158Thr)
c.3242T>C (p.Ile1081Thr)
c.3143T>C (p.Ile1048Thr)
c.2324T>C (p.Ile775Thr)
n.3875T>C
13g.51939094A>TCA388023869ATP7Bc.*1306T>A (n.*1306T>A)
c.*2400T>A (n.*2400T>A)
c.3035T>A (p.Ile1012Asn)
c.3656T>A (p.Ile1219Asn)
c.3323T>A (p.Ile1108Asn)
c.3404T>A (p.Ile1135Asn)
n.897T>A
c.3422T>A (p.Ile1141Asn)
n.3795T>A
n.522T>A
c.2591T>A (p.Ile864Asn)
c.2366T>A (p.Ile789Asn)
c.3461T>A (p.Ile1154Asn)
c.1434T>A
c.*757T>A (n.*757T>A)
n.4400T>A
n.3001T>A
c.3512T>A (p.Ile1171Asn)
c.3560T>A (p.Ile1187Asn)
c.3620T>A (p.Ile1207Asn)
c.3170T>A (p.Ile1057Asn)
c.1472T>A (p.Ile491Asn)
c.1289T>A (p.Ile430Asn)
c.3521T>A (p.Ile1174Asn)
c.3473T>A (p.Ile1158Asn)
c.3242T>A (p.Ile1081Asn)
c.3143T>A (p.Ile1048Asn)
c.2324T>A (p.Ile775Asn)
n.3875T>A
 dbSNP
13g.51939095T>ACA388023878ATP7Bc.*1305A>T (n.*1305A>T)
c.*2399A>T (n.*2399A>T)
c.3034A>T (p.Ile1012Phe)
c.3655A>T (p.Ile1219Phe)
c.3322A>T (p.Ile1108Phe)
c.3403A>T (p.Ile1135Phe)
n.896A>T
c.3421A>T (p.Ile1141Phe)
n.3794A>T
n.521A>T
c.2590A>T (p.Ile864Phe)
c.2365A>T (p.Ile789Phe)
c.3460A>T (p.Ile1154Phe)
c.1433A>T
c.*756A>T (n.*756A>T)
n.4399A>T
n.3000A>T
c.3511A>T (p.Ile1171Phe)
c.3559A>T (p.Ile1187Phe)
c.3619A>T (p.Ile1207Phe)
c.3169A>T (p.Ile1057Phe)
c.1471A>T (p.Ile491Phe)
c.1288A>T (p.Ile430Phe)
c.3520A>T (p.Ile1174Phe)
c.3472A>T (p.Ile1158Phe)
c.3241A>T (p.Ile1081Phe)
c.3142A>T (p.Ile1048Phe)
c.2323A>T (p.Ile775Phe)
n.3874A>T
13g.51939095T>CCA388023879ATP7Bc.*1305A>G (n.*1305A>G)
c.*2399A>G (n.*2399A>G)
c.3034A>G (p.Ile1012Val)
c.3655A>G (p.Ile1219Val)
c.3322A>G (p.Ile1108Val)
c.3403A>G (p.Ile1135Val)
n.896A>G
c.3421A>G (p.Ile1141Val)
n.3794A>G
n.521A>G
c.2590A>G (p.Ile864Val)
c.2365A>G (p.Ile789Val)
c.3460A>G (p.Ile1154Val)
c.1433A>G
c.*756A>G (n.*756A>G)
n.4399A>G
n.3000A>G
c.3511A>G (p.Ile1171Val)
c.3559A>G (p.Ile1187Val)
c.3619A>G (p.Ile1207Val)
c.3169A>G (p.Ile1057Val)
c.1471A>G (p.Ile491Val)
c.1288A>G (p.Ile430Val)
c.3520A>G (p.Ile1174Val)
c.3472A>G (p.Ile1158Val)
c.3241A>G (p.Ile1081Val)
c.3142A>G (p.Ile1048Val)
c.2323A>G (p.Ile775Val)
n.3874A>G
13g.51939095T>GCA388023886ATP7Bc.*1305A>C (n.*1305A>C)
c.*2399A>C (n.*2399A>C)
c.3034A>C (p.Ile1012Leu)
c.3655A>C (p.Ile1219Leu)
c.3322A>C (p.Ile1108Leu)
c.3403A>C (p.Ile1135Leu)
n.896A>C
c.3421A>C (p.Ile1141Leu)
n.3794A>C
n.521A>C
c.2590A>C (p.Ile864Leu)
c.2365A>C (p.Ile789Leu)
c.3460A>C (p.Ile1154Leu)
c.1433A>C
c.*756A>C (n.*756A>C)
n.4399A>C
n.3000A>C
c.3511A>C (p.Ile1171Leu)
c.3559A>C (p.Ile1187Leu)
c.3619A>C (p.Ile1207Leu)
c.3169A>C (p.Ile1057Leu)
c.1471A>C (p.Ile491Leu)
c.1288A>C (p.Ile430Leu)
c.3520A>C (p.Ile1174Leu)
c.3472A>C (p.Ile1158Leu)
c.3241A>C (p.Ile1081Leu)
c.3142A>C (p.Ile1048Leu)
c.2323A>C (p.Ile775Leu)
n.3874A>C
13g.51939095_51939101delinsTCAGAACCA2091556745ATP7Bc.*1299_*1305delinsGTTCTGA (n.*1299_*1305delinsGTTCTGA)
c.*2393_*2399delinsGTTCTGA (n.*2393_*2399delinsGTTCTGA)
c.3028_3034delinsGTTCTGA (p.Val1010=)
c.3649_3655delinsGTTCTGA (p.Val1217=)
c.3316_3322delinsGTTCTGA (p.Val1106=)
c.3397_3403delinsGTTCTGA (p.Val1133=)
n.890_896delinsGTTCTGA
c.3415_3421delinsGTTCTGA (p.Val1139=)
n.3788_3794delinsGTTCTGA
n.515_521delinsGTTCTGA
c.2584_2590delinsGTTCTGA (p.Val862=)
c.2359_2365delinsGTTCTGA (p.Val787=)
c.3454_3460delinsGTTCTGA (p.Val1152=)
c.1427_1433delinsGTTCTGA
c.*750_*756delinsGTTCTGA (n.*750_*756delinsGTTCTGA)
n.4393_4399delinsGTTCTGA
n.2994_3000delinsGTTCTGA
c.3505_3511delinsGTTCTGA (p.Val1169=)
c.3553_3559delinsGTTCTGA (p.Val1185=)
c.3613_3619delinsGTTCTGA (p.Val1205=)
c.3163_3169delinsGTTCTGA (p.Val1055=)
c.1465_1471delinsGTTCTGA (p.Val489=)
c.1282_1288delinsGTTCTGA (p.Val428=)
c.3514_3520delinsGTTCTGA (p.Val1172=)
c.3466_3472delinsGTTCTGA (p.Val1156=)
c.3235_3241delinsGTTCTGA (p.Val1079=)
c.3136_3142delinsGTTCTGA (p.Val1046=)
c.2317_2323delinsGTTCTGA (p.Val773=)
n.3868_3874delinsGTTCTGA
13g.51939096C>ACA483893724ATP7Bc.*1304G>T (n.*1304G>T)
c.*2398G>T (n.*2398G>T)
c.3033G>T (p.Leu1011=)
c.3654G>T (p.Leu1218=)
c.3321G>T (p.Leu1107=)
c.3402G>T (p.Leu1134=)
n.895G>T
c.3420G>T (p.Leu1140=)
n.3793G>T
n.520G>T
c.2589G>T (p.Leu863=)
c.2364G>T (p.Leu788=)
c.3459G>T (p.Leu1153=)
c.1432G>T
c.*755G>T (n.*755G>T)
n.4398G>T
n.2999G>T
c.3510G>T (p.Leu1170=)
c.3558G>T (p.Leu1186=)
c.3618G>T (p.Leu1206=)
c.3168G>T (p.Leu1056=)
c.1470G>T (p.Leu490=)
c.1287G>T (p.Leu429=)
c.3519G>T (p.Leu1173=)
c.3471G>T (p.Leu1157=)
c.3240G>T (p.Leu1080=)
c.3141G>T (p.Leu1047=)
c.2322G>T (p.Leu774=)
n.3873G>T
13g.51939096C>GCA483893726ATP7Bc.*1304G>C (n.*1304G>C)
c.*2398G>C (n.*2398G>C)
c.3033G>C (p.Leu1011=)
c.3654G>C (p.Leu1218=)
c.3321G>C (p.Leu1107=)
c.3402G>C (p.Leu1134=)
n.895G>C
c.3420G>C (p.Leu1140=)
n.3793G>C
n.520G>C
c.2589G>C (p.Leu863=)
c.2364G>C (p.Leu788=)
c.3459G>C (p.Leu1153=)
c.1432G>C
c.*755G>C (n.*755G>C)
n.4398G>C
n.2999G>C
c.3510G>C (p.Leu1170=)
c.3558G>C (p.Leu1186=)
c.3618G>C (p.Leu1206=)
c.3168G>C (p.Leu1056=)
c.1470G>C (p.Leu490=)
c.1287G>C (p.Leu429=)
c.3519G>C (p.Leu1173=)
c.3471G>C (p.Leu1157=)
c.3240G>C (p.Leu1080=)
c.3141G>C (p.Leu1047=)
c.2322G>C (p.Leu774=)
n.3873G>C
13g.51939096C>TCA483893728ATP7Bc.*1304G>A (n.*1304G>A)
c.*2398G>A (n.*2398G>A)
c.3033G>A (p.Leu1011=)
c.3654G>A (p.Leu1218=)
c.3321G>A (p.Leu1107=)
c.3402G>A (p.Leu1134=)
n.895G>A
c.3420G>A (p.Leu1140=)
n.3793G>A
n.520G>A
c.2589G>A (p.Leu863=)
c.2364G>A (p.Leu788=)
c.3459G>A (p.Leu1153=)
c.1432G>A
c.*755G>A (n.*755G>A)
n.4398G>A
n.2999G>A
c.3510G>A (p.Leu1170=)
c.3558G>A (p.Leu1186=)
c.3618G>A (p.Leu1206=)
c.3168G>A (p.Leu1056=)
c.1470G>A (p.Leu490=)
c.1287G>A (p.Leu429=)
c.3519G>A (p.Leu1173=)
c.3471G>A (p.Leu1157=)
c.3240G>A (p.Leu1080=)
c.3141G>A (p.Leu1047=)
c.2322G>A (p.Leu774=)
n.3873G>A
 ClinVar dbSNP
13g.51939098_51939103delCA274259ATP7Bc.*1299_*1304del (n.*1299_*1304del)
c.*2393_*2398del (n.*2393_*2398del)
c.3028_3033del (p.Val1010_Leu1011del)
c.3649_3654del (p.Val1217_Leu1218del)
c.3316_3321del (p.Val1106_Leu1107del)
c.3397_3402del (p.Val1133_Leu1134del)
n.890_895del
c.3415_3420del (p.Val1139_Leu1140del)
n.3788_3793del
n.515_520del
c.2584_2589del (p.Val862_Leu863del)
c.2359_2364del (p.Val787_Leu788del)
c.3454_3459del (p.Val1152_Leu1153del)
c.1427_1432del
c.*750_*755del (n.*750_*755del)
n.4393_4398del
n.2994_2999del
c.3505_3510del (p.Val1169_Leu1170del)
c.3553_3558del (p.Val1185_Leu1186del)
c.3613_3618del (p.Val1205_Leu1206del)
c.3163_3168del (p.Val1055_Leu1056del)
c.1465_1470del (p.Val489_Leu490del)
c.1282_1287del (p.Val428_Leu429del)
c.3514_3519del (p.Val1172_Leu1173del)
c.3466_3471del (p.Val1156_Leu1157del)
c.3235_3240del (p.Val1079_Leu1080del)
c.3136_3141del (p.Val1046_Leu1047del)
c.2317_2322del (p.Val773_Leu774del)
n.3868_3873del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51939097A>CCA388023893ATP7Bc.*1303T>G (n.*1303T>G)
c.*2397T>G (n.*2397T>G)
c.3032T>G (p.Leu1011Arg)
c.3653T>G (p.Leu1218Arg)
c.3320T>G (p.Leu1107Arg)
c.3401T>G (p.Leu1134Arg)
n.894T>G
c.3419T>G (p.Leu1140Arg)
n.3792T>G
n.519T>G
c.2588T>G (p.Leu863Arg)
c.2363T>G (p.Leu788Arg)
c.3458T>G (p.Leu1153Arg)
c.1431T>G
c.*754T>G (n.*754T>G)
n.4397T>G
n.2998T>G
c.3509T>G (p.Leu1170Arg)
c.3557T>G (p.Leu1186Arg)
c.3617T>G (p.Leu1206Arg)
c.3167T>G (p.Leu1056Arg)
c.1469T>G (p.Leu490Arg)
c.1286T>G (p.Leu429Arg)
c.3518T>G (p.Leu1173Arg)
c.3470T>G (p.Leu1157Arg)
c.3239T>G (p.Leu1080Arg)
c.3140T>G (p.Leu1047Arg)
c.2321T>G (p.Leu774Arg)
n.3872T>G
13g.51939097A>GCA388023898ATP7Bc.*1303T>C (n.*1303T>C)
c.*2397T>C (n.*2397T>C)
c.3032T>C (p.Leu1011Pro)
c.3653T>C (p.Leu1218Pro)
c.3320T>C (p.Leu1107Pro)
c.3401T>C (p.Leu1134Pro)
n.894T>C
c.3419T>C (p.Leu1140Pro)
n.3792T>C
n.519T>C
c.2588T>C (p.Leu863Pro)
c.2363T>C (p.Leu788Pro)
c.3458T>C (p.Leu1153Pro)
c.1431T>C
c.*754T>C (n.*754T>C)
n.4397T>C
n.2998T>C
c.3509T>C (p.Leu1170Pro)
c.3557T>C (p.Leu1186Pro)
c.3617T>C (p.Leu1206Pro)
c.3167T>C (p.Leu1056Pro)
c.1469T>C (p.Leu490Pro)
c.1286T>C (p.Leu429Pro)
c.3518T>C (p.Leu1173Pro)
c.3470T>C (p.Leu1157Pro)
c.3239T>C (p.Leu1080Pro)
c.3140T>C (p.Leu1047Pro)
c.2321T>C (p.Leu774Pro)
n.3872T>C
13g.51939097A>TCA388023906ATP7Bc.*1303T>A (n.*1303T>A)
c.*2397T>A (n.*2397T>A)
c.3032T>A (p.Leu1011Gln)
c.3653T>A (p.Leu1218Gln)
c.3320T>A (p.Leu1107Gln)
c.3401T>A (p.Leu1134Gln)
n.894T>A
c.3419T>A (p.Leu1140Gln)
n.3792T>A
n.519T>A
c.2588T>A (p.Leu863Gln)
c.2363T>A (p.Leu788Gln)
c.3458T>A (p.Leu1153Gln)
c.1431T>A
c.*754T>A (n.*754T>A)
n.4397T>A
n.2998T>A
c.3509T>A (p.Leu1170Gln)
c.3557T>A (p.Leu1186Gln)
c.3617T>A (p.Leu1206Gln)
c.3167T>A (p.Leu1056Gln)
c.1469T>A (p.Leu490Gln)
c.1286T>A (p.Leu429Gln)
c.3518T>A (p.Leu1173Gln)
c.3470T>A (p.Leu1157Gln)
c.3239T>A (p.Leu1080Gln)
c.3140T>A (p.Leu1047Gln)
c.2321T>A (p.Leu774Gln)
n.3872T>A
13g.51939098G>ACA250075079ATP7Bc.*1302C>T (n.*1302C>T)
c.*2396C>T (n.*2396C>T)
c.3031C>T (p.Leu1011=)
c.3652C>T (p.Leu1218=)
c.3319C>T (p.Leu1107=)
c.3400C>T (p.Leu1134=)
n.893C>T
c.3418C>T (p.Leu1140=)
n.3791C>T
n.518C>T
c.2587C>T (p.Leu863=)
c.2362C>T (p.Leu788=)
c.3457C>T (p.Leu1153=)
c.1430C>T
c.*753C>T (n.*753C>T)
n.4396C>T
n.2997C>T
c.3508C>T (p.Leu1170=)
c.3556C>T (p.Leu1186=)
c.3616C>T (p.Leu1206=)
c.3166C>T (p.Leu1056=)
c.1468C>T (p.Leu490=)
c.1285C>T (p.Leu429=)
c.3517C>T (p.Leu1173=)
c.3469C>T (p.Leu1157=)
c.3238C>T (p.Leu1080=)
c.3139C>T (p.Leu1047=)
c.2320C>T (p.Leu774=)
n.3871C>T
 dbSNP gnomAD v4
13g.51939098G>CCA388023907ATP7Bc.*1302C>G (n.*1302C>G)
c.*2396C>G (n.*2396C>G)
c.3031C>G (p.Leu1011Val)
c.3652C>G (p.Leu1218Val)
c.3319C>G (p.Leu1107Val)
c.3400C>G (p.Leu1134Val)
n.893C>G
c.3418C>G (p.Leu1140Val)
n.3791C>G
n.518C>G
c.2587C>G (p.Leu863Val)
c.2362C>G (p.Leu788Val)
c.3457C>G (p.Leu1153Val)
c.1430C>G
c.*753C>G (n.*753C>G)
n.4396C>G
n.2997C>G
c.3508C>G (p.Leu1170Val)
c.3556C>G (p.Leu1186Val)
c.3616C>G (p.Leu1206Val)
c.3166C>G (p.Leu1056Val)
c.1468C>G (p.Leu490Val)
c.1285C>G (p.Leu429Val)
c.3517C>G (p.Leu1173Val)
c.3469C>G (p.Leu1157Val)
c.3238C>G (p.Leu1080Val)
c.3139C>G (p.Leu1047Val)
c.2320C>G (p.Leu774Val)
n.3871C>G
 COSMIC
13g.51939098G=CA2091556758ATP7Bc.*1302C= (n.*1302C=)
c.*2396C= (n.*2396C=)
c.3031C= (p.Leu1011=)
c.3652C= (p.Leu1218=)
c.3319C= (p.Leu1107=)
c.3400C= (p.Leu1134=)
n.893C=
c.3418C= (p.Leu1140=)
n.3791C=
n.518C=
c.2587C= (p.Leu863=)
c.2362C= (p.Leu788=)
c.3457C= (p.Leu1153=)
c.1430C=
c.*753C= (n.*753C=)
n.4396C=
n.2997C=
c.3508C= (p.Leu1170=)
c.3556C= (p.Leu1186=)
c.3616C= (p.Leu1206=)
c.3166C= (p.Leu1056=)
c.1468C= (p.Leu490=)
c.1285C= (p.Leu429=)
c.3517C= (p.Leu1173=)
c.3469C= (p.Leu1157=)
c.3238C= (p.Leu1080=)
c.3139C= (p.Leu1047=)
c.2320C= (p.Leu774=)
n.3871C=
13g.51939098G>TCA388023908ATP7Bc.*1302C>A (n.*1302C>A)
c.*2396C>A (n.*2396C>A)
c.3031C>A (p.Leu1011Met)
c.3652C>A (p.Leu1218Met)
c.3319C>A (p.Leu1107Met)
c.3400C>A (p.Leu1134Met)
n.893C>A
c.3418C>A (p.Leu1140Met)
n.3791C>A
n.518C>A
c.2587C>A (p.Leu863Met)
c.2362C>A (p.Leu788Met)
c.3457C>A (p.Leu1153Met)
c.1430C>A
c.*753C>A (n.*753C>A)
n.4396C>A
n.2997C>A
c.3508C>A (p.Leu1170Met)
c.3556C>A (p.Leu1186Met)
c.3616C>A (p.Leu1206Met)
c.3166C>A (p.Leu1056Met)
c.1468C>A (p.Leu490Met)
c.1285C>A (p.Leu429Met)
c.3517C>A (p.Leu1173Met)
c.3469C>A (p.Leu1157Met)
c.3238C>A (p.Leu1080Met)
c.3139C>A (p.Leu1047Met)
c.2320C>A (p.Leu774Met)
n.3871C>A
13g.51939099A>CCA483893741ATP7Bc.*1301T>G (n.*1301T>G)
c.*2395T>G (n.*2395T>G)
c.3030T>G (p.Val1010=)
c.3651T>G (p.Val1217=)
c.3318T>G (p.Val1106=)
c.3399T>G (p.Val1133=)
n.892T>G
c.3417T>G (p.Val1139=)
n.3790T>G
n.517T>G
c.2586T>G (p.Val862=)
c.2361T>G (p.Val787=)
c.3456T>G (p.Val1152=)
c.1429T>G
c.*752T>G (n.*752T>G)
n.4395T>G
n.2996T>G
c.3507T>G (p.Val1169=)
c.3555T>G (p.Val1185=)
c.3615T>G (p.Val1205=)
c.3165T>G (p.Val1055=)
c.1467T>G (p.Val489=)
c.1284T>G (p.Val428=)
c.3516T>G (p.Val1172=)
c.3468T>G (p.Val1156=)
c.3237T>G (p.Val1079=)
c.3138T>G (p.Val1046=)
c.2319T>G (p.Val773=)
n.3870T>G
13g.51939099A>GCA483893743ATP7Bc.*1301T>C (n.*1301T>C)
c.*2395T>C (n.*2395T>C)
c.3030T>C (p.Val1010=)
c.3651T>C (p.Val1217=)
c.3318T>C (p.Val1106=)
c.3399T>C (p.Val1133=)
n.892T>C
c.3417T>C (p.Val1139=)
n.3790T>C
n.517T>C
c.2586T>C (p.Val862=)
c.2361T>C (p.Val787=)
c.3456T>C (p.Val1152=)
c.1429T>C
c.*752T>C (n.*752T>C)
n.4395T>C
n.2996T>C
c.3507T>C (p.Val1169=)
c.3555T>C (p.Val1185=)
c.3615T>C (p.Val1205=)
c.3165T>C (p.Val1055=)
c.1467T>C (p.Val489=)
c.1284T>C (p.Val428=)
c.3516T>C (p.Val1172=)
c.3468T>C (p.Val1156=)
c.3237T>C (p.Val1079=)
c.3138T>C (p.Val1046=)
c.2319T>C (p.Val773=)
n.3870T>C
13g.51939099A>TCA483893740ATP7Bc.*1301T>A (n.*1301T>A)
c.*2395T>A (n.*2395T>A)
c.3030T>A (p.Val1010=)
c.3651T>A (p.Val1217=)
c.3318T>A (p.Val1106=)
c.3399T>A (p.Val1133=)
n.892T>A
c.3417T>A (p.Val1139=)
n.3790T>A
n.517T>A
c.2586T>A (p.Val862=)
c.2361T>A (p.Val787=)
c.3456T>A (p.Val1152=)
c.1429T>A
c.*752T>A (n.*752T>A)
n.4395T>A
n.2996T>A
c.3507T>A (p.Val1169=)
c.3555T>A (p.Val1185=)
c.3615T>A (p.Val1205=)
c.3165T>A (p.Val1055=)
c.1467T>A (p.Val489=)
c.1284T>A (p.Val428=)
c.3516T>A (p.Val1172=)
c.3468T>A (p.Val1156=)
c.3237T>A (p.Val1079=)
c.3138T>A (p.Val1046=)
c.2319T>A (p.Val773=)
n.3870T>A
 gnomAD v4
13g.51939100A=CA2091556766ATP7Bc.*1300T= (n.*1300T=)
c.*2394T= (n.*2394T=)
c.3029T= (p.Val1010=)
c.3650T= (p.Val1217=)
c.3317T= (p.Val1106=)
c.3398T= (p.Val1133=)
n.891T=
c.3416T= (p.Val1139=)
n.3789T=
n.516T=
c.2585T= (p.Val862=)
c.2360T= (p.Val787=)
c.3455T= (p.Val1152=)
c.1428T=
c.*751T= (n.*751T=)
n.4394T=
n.2995T=
c.3506T= (p.Val1169=)
c.3554T= (p.Val1185=)
c.3614T= (p.Val1205=)
c.3164T= (p.Val1055=)
c.1466T= (p.Val489=)
c.1283T= (p.Val428=)
c.3515T= (p.Val1172=)
c.3467T= (p.Val1156=)
c.3236T= (p.Val1079=)
c.3137T= (p.Val1046=)
c.2318T= (p.Val773=)
n.3869T=
13g.51939100A>CCA388023918ATP7Bc.*1300T>G (n.*1300T>G)
c.*2394T>G (n.*2394T>G)
c.3029T>G (p.Val1010Gly)
c.3650T>G (p.Val1217Gly)
c.3317T>G (p.Val1106Gly)
c.3398T>G (p.Val1133Gly)
n.891T>G
c.3416T>G (p.Val1139Gly)
n.3789T>G
n.516T>G
c.2585T>G (p.Val862Gly)
c.2360T>G (p.Val787Gly)
c.3455T>G (p.Val1152Gly)
c.1428T>G
c.*751T>G (n.*751T>G)
n.4394T>G
n.2995T>G
c.3506T>G (p.Val1169Gly)
c.3554T>G (p.Val1185Gly)
c.3614T>G (p.Val1205Gly)
c.3164T>G (p.Val1055Gly)
c.1466T>G (p.Val489Gly)
c.1283T>G (p.Val428Gly)
c.3515T>G (p.Val1172Gly)
c.3467T>G (p.Val1156Gly)
c.3236T>G (p.Val1079Gly)
c.3137T>G (p.Val1046Gly)
c.2318T>G (p.Val773Gly)
n.3869T>G
13g.51939100A>GCA388023913ATP7Bc.*1300T>C (n.*1300T>C)
c.*2394T>C (n.*2394T>C)
c.3029T>C (p.Val1010Ala)
c.3650T>C (p.Val1217Ala)
c.3317T>C (p.Val1106Ala)
c.3398T>C (p.Val1133Ala)
n.891T>C
c.3416T>C (p.Val1139Ala)
n.3789T>C
n.516T>C
c.2585T>C (p.Val862Ala)
c.2360T>C (p.Val787Ala)
c.3455T>C (p.Val1152Ala)
c.1428T>C
c.*751T>C (n.*751T>C)
n.4394T>C
n.2995T>C
c.3506T>C (p.Val1169Ala)
c.3554T>C (p.Val1185Ala)
c.3614T>C (p.Val1205Ala)
c.3164T>C (p.Val1055Ala)
c.1466T>C (p.Val489Ala)
c.1283T>C (p.Val428Ala)
c.3515T>C (p.Val1172Ala)
c.3467T>C (p.Val1156Ala)
c.3236T>C (p.Val1079Ala)
c.3137T>C (p.Val1046Ala)
c.2318T>C (p.Val773Ala)
n.3869T>C
13g.51939100A>TCA388023911ATP7Bc.*1300T>A (n.*1300T>A)
c.*2394T>A (n.*2394T>A)
c.3029T>A (p.Val1010Asp)
c.3650T>A (p.Val1217Asp)
c.3317T>A (p.Val1106Asp)
c.3398T>A (p.Val1133Asp)
n.891T>A
c.3416T>A (p.Val1139Asp)
n.3789T>A
n.516T>A
c.2585T>A (p.Val862Asp)
c.2360T>A (p.Val787Asp)
c.3455T>A (p.Val1152Asp)
c.1428T>A
c.*751T>A (n.*751T>A)
n.4394T>A
n.2995T>A
c.3506T>A (p.Val1169Asp)
c.3554T>A (p.Val1185Asp)
c.3614T>A (p.Val1205Asp)
c.3164T>A (p.Val1055Asp)
c.1466T>A (p.Val489Asp)
c.1283T>A (p.Val428Asp)
c.3515T>A (p.Val1172Asp)
c.3467T>A (p.Val1156Asp)
c.3236T>A (p.Val1079Asp)
c.3137T>A (p.Val1046Asp)
c.2318T>A (p.Val773Asp)
n.3869T>A
 dbSNP gnomAD v3 gnomAD v4
13g.51939101C>ACA388023927ATP7Bc.*1299G>T (n.*1299G>T)
c.*2393G>T (n.*2393G>T)
c.3028G>T (p.Val1010Phe)
c.3649G>T (p.Val1217Phe)
c.3316G>T (p.Val1106Phe)
c.3397G>T (p.Val1133Phe)
n.890G>T
c.3415G>T (p.Val1139Phe)
n.3788G>T
n.515G>T
c.2584G>T (p.Val862Phe)
c.2359G>T (p.Val787Phe)
c.3454G>T (p.Val1152Phe)
c.1427G>T
c.*750G>T (n.*750G>T)
n.4393G>T
n.2994G>T
c.3505G>T (p.Val1169Phe)
c.3553G>T (p.Val1185Phe)
c.3613G>T (p.Val1205Phe)
c.3163G>T (p.Val1055Phe)
c.1465G>T (p.Val489Phe)
c.1282G>T (p.Val428Phe)
c.3514G>T (p.Val1172Phe)
c.3466G>T (p.Val1156Phe)
c.3235G>T (p.Val1079Phe)
c.3136G>T (p.Val1046Phe)
c.2317G>T (p.Val773Phe)
n.3868G>T
13g.51939101C>GCA388023935ATP7Bc.*1299G>C (n.*1299G>C)
c.*2393G>C (n.*2393G>C)
c.3028G>C (p.Val1010Leu)
c.3649G>C (p.Val1217Leu)
c.3316G>C (p.Val1106Leu)
c.3397G>C (p.Val1133Leu)
n.890G>C
c.3415G>C (p.Val1139Leu)
n.3788G>C
n.515G>C
c.2584G>C (p.Val862Leu)
c.2359G>C (p.Val787Leu)
c.3454G>C (p.Val1152Leu)
c.1427G>C
c.*750G>C (n.*750G>C)
n.4393G>C
n.2994G>C
c.3505G>C (p.Val1169Leu)
c.3553G>C (p.Val1185Leu)
c.3613G>C (p.Val1205Leu)
c.3163G>C (p.Val1055Leu)
c.1465G>C (p.Val489Leu)
c.1282G>C (p.Val428Leu)
c.3514G>C (p.Val1172Leu)
c.3466G>C (p.Val1156Leu)
c.3235G>C (p.Val1079Leu)
c.3136G>C (p.Val1046Leu)
c.2317G>C (p.Val773Leu)
n.3868G>C
13g.51939101C>TCA388023936ATP7Bc.*1299G>A (n.*1299G>A)
c.*2393G>A (n.*2393G>A)
c.3028G>A (p.Val1010Ile)
c.3649G>A (p.Val1217Ile)
c.3316G>A (p.Val1106Ile)
c.3397G>A (p.Val1133Ile)
n.890G>A
c.3415G>A (p.Val1139Ile)
n.3788G>A
n.515G>A
c.2584G>A (p.Val862Ile)
c.2359G>A (p.Val787Ile)
c.3454G>A (p.Val1152Ile)
c.1427G>A
c.*750G>A (n.*750G>A)
n.4393G>A
n.2994G>A
c.3505G>A (p.Val1169Ile)
c.3553G>A (p.Val1185Ile)
c.3613G>A (p.Val1205Ile)
c.3163G>A (p.Val1055Ile)
c.1465G>A (p.Val489Ile)
c.1282G>A (p.Val428Ile)
c.3514G>A (p.Val1172Ile)
c.3466G>A (p.Val1156Ile)
c.3235G>A (p.Val1079Ile)
c.3136G>A (p.Val1046Ile)
c.2317G>A (p.Val773Ile)
n.3868G>A
13g.51939102delCA2623119629ATP7Bc.*1299del (n.*1299del)
c.*2393del (n.*2393del)
c.3028del (p.Val1010PhefsTer2)
c.3649del (p.Val1217PhefsTer2)
c.3316del (p.Val1106PhefsTer2)
c.3397del (p.Val1133PhefsTer2)
n.890del
c.3415del (p.Val1139PhefsTer2)
n.3788del
n.515del
c.2584del (p.Val862PhefsTer2)
c.2359del (p.Val787PhefsTer2)
c.3454del (p.Val1152PhefsTer2)
c.1427del
c.*750del (n.*750del)
n.4393del
n.2994del
c.3505del (p.Val1169PhefsTer2)
c.3553del (p.Val1185PhefsTer2)
c.3613del (p.Val1205PhefsTer2)
c.3163del (p.Val1055PhefsTer2)
c.1465del (p.Val489PhefsTer2)
c.1282del (p.Val428PhefsTer2)
c.3514del (p.Val1172PhefsTer2)
c.3466del (p.Val1156PhefsTer2)
c.3235del (p.Val1079PhefsTer2)
c.3136del (p.Val1046PhefsTer2)
c.2317del (p.Val773PhefsTer2)
n.3868del
 ClinVar gnomAD v4
13g.51939102C>ACA483893749ATP7Bc.*1298G>T (n.*1298G>T)
c.*2392G>T (n.*2392G>T)
c.3027G>T (p.Val1009=)
c.3648G>T (p.Val1216=)
c.3315G>T (p.Val1105=)
c.3396G>T (p.Val1132=)
n.889G>T
c.3414G>T (p.Val1138=)
n.3787G>T
n.514G>T
c.2583G>T (p.Val861=)
c.2358G>T (p.Val786=)
c.3453G>T (p.Val1151=)
c.1426G>T
c.*749G>T (n.*749G>T)
n.4392G>T
n.2993G>T
c.3504G>T (p.Val1168=)
c.3552G>T (p.Val1184=)
c.3612G>T (p.Val1204=)
c.3162G>T (p.Val1054=)
c.1464G>T (p.Val488=)
c.1281G>T (p.Val427=)
c.3513G>T (p.Val1171=)
c.3465G>T (p.Val1155=)
c.3234G>T (p.Val1078=)
c.3135G>T (p.Val1045=)
c.2316G>T (p.Val772=)
n.3867G>T
13g.51939102C>GCA483893750ATP7Bc.*1298G>C (n.*1298G>C)
c.*2392G>C (n.*2392G>C)
c.3027G>C (p.Val1009=)
c.3648G>C (p.Val1216=)
c.3315G>C (p.Val1105=)
c.3396G>C (p.Val1132=)
n.889G>C
c.3414G>C (p.Val1138=)
n.3787G>C
n.514G>C
c.2583G>C (p.Val861=)
c.2358G>C (p.Val786=)
c.3453G>C (p.Val1151=)
c.1426G>C
c.*749G>C (n.*749G>C)
n.4392G>C
n.2993G>C
c.3504G>C (p.Val1168=)
c.3552G>C (p.Val1184=)
c.3612G>C (p.Val1204=)
c.3162G>C (p.Val1054=)
c.1464G>C (p.Val488=)
c.1281G>C (p.Val427=)
c.3513G>C (p.Val1171=)
c.3465G>C (p.Val1155=)
c.3234G>C (p.Val1078=)
c.3135G>C (p.Val1045=)
c.2316G>C (p.Val772=)
n.3867G>C
13g.51939102C>TCA483893751ATP7Bc.*1298G>A (n.*1298G>A)
c.*2392G>A (n.*2392G>A)
c.3027G>A (p.Val1009=)
c.3648G>A (p.Val1216=)
c.3315G>A (p.Val1105=)
c.3396G>A (p.Val1132=)
n.889G>A
c.3414G>A (p.Val1138=)
n.3787G>A
n.514G>A
c.2583G>A (p.Val861=)
c.2358G>A (p.Val786=)
c.3453G>A (p.Val1151=)
c.1426G>A
c.*749G>A (n.*749G>A)
n.4392G>A
n.2993G>A
c.3504G>A (p.Val1168=)
c.3552G>A (p.Val1184=)
c.3612G>A (p.Val1204=)
c.3162G>A (p.Val1054=)
c.1464G>A (p.Val488=)
c.1281G>A (p.Val427=)
c.3513G>A (p.Val1171=)
c.3465G>A (p.Val1155=)
c.3234G>A (p.Val1078=)
c.3135G>A (p.Val1045=)
c.2316G>A (p.Val772=)
n.3867G>A
 ClinVar gnomAD v4
13g.51939104_51939124delCA2739277679ATP7Bc.*1278_*1298del (n.*1278_*1298del)
c.*2372_*2392del (n.*2372_*2392del)
c.3007_3027del (p.Gln1003_Val1009del)
c.3628_3648del (p.Gln1210_Val1216del)
c.3295_3315del (p.Gln1099_Val1105del)
c.3376_3396del (p.Gln1126_Val1132del)
n.869_889del
c.3394_3414del (p.Gln1132_Val1138del)
n.3767_3787del
n.494_514del
c.2563_2583del (p.Gln855_Val861del)
c.2338_2358del (p.Gln780_Val786del)
c.3433_3453del (p.Gln1145_Val1151del)
c.1406_1426del
c.*729_*749del (n.*729_*749del)
n.4372_4392del
n.2973_2993del
c.3484_3504del (p.Gln1162_Val1168del)
c.3532_3552del (p.Gln1178_Val1184del)
c.3592_3612del (p.Gln1198_Val1204del)
c.3142_3162del (p.Gln1048_Val1054del)
c.1444_1464del (p.Gln482_Val488del)
c.1261_1281del (p.Gln421_Val427del)
c.3493_3513del (p.Gln1165_Val1171del)
c.3445_3465del (p.Gln1149_Val1155del)
c.3214_3234del (p.Gln1072_Val1078del)
c.3115_3135del (p.Gln1039_Val1045del)
c.2296_2316del (p.Gln766_Val772del)
n.3847_3867del
 ClinVar
13g.51939103A>CCA388023941ATP7Bc.*1297T>G (n.*1297T>G)
c.*2391T>G (n.*2391T>G)
c.3026T>G (p.Val1009Gly)
c.3647T>G (p.Val1216Gly)
c.3314T>G (p.Val1105Gly)
c.3395T>G (p.Val1132Gly)
n.888T>G
c.3413T>G (p.Val1138Gly)
n.3786T>G
n.513T>G
c.2582T>G (p.Val861Gly)
c.2357T>G (p.Val786Gly)
c.3452T>G (p.Val1151Gly)
c.1425T>G
c.*748T>G (n.*748T>G)
n.4391T>G
n.2992T>G
c.3503T>G (p.Val1168Gly)
c.3551T>G (p.Val1184Gly)
c.3611T>G (p.Val1204Gly)
c.3161T>G (p.Val1054Gly)
c.1463T>G (p.Val488Gly)
c.1280T>G (p.Val427Gly)
c.3512T>G (p.Val1171Gly)
c.3464T>G (p.Val1155Gly)
c.3233T>G (p.Val1078Gly)
c.3134T>G (p.Val1045Gly)
c.2315T>G (p.Val772Gly)
n.3866T>G
13g.51939103A>GCA388023943ATP7Bc.*1297T>C (n.*1297T>C)
c.*2391T>C (n.*2391T>C)
c.3026T>C (p.Val1009Ala)
c.3647T>C (p.Val1216Ala)
c.3314T>C (p.Val1105Ala)
c.3395T>C (p.Val1132Ala)
n.888T>C
c.3413T>C (p.Val1138Ala)
n.3786T>C
n.513T>C
c.2582T>C (p.Val861Ala)
c.2357T>C (p.Val786Ala)
c.3452T>C (p.Val1151Ala)
c.1425T>C
c.*748T>C (n.*748T>C)
n.4391T>C
n.2992T>C
c.3503T>C (p.Val1168Ala)
c.3551T>C (p.Val1184Ala)
c.3611T>C (p.Val1204Ala)
c.3161T>C (p.Val1054Ala)
c.1463T>C (p.Val488Ala)
c.1280T>C (p.Val427Ala)
c.3512T>C (p.Val1171Ala)
c.3464T>C (p.Val1155Ala)
c.3233T>C (p.Val1078Ala)
c.3134T>C (p.Val1045Ala)
c.2315T>C (p.Val772Ala)
n.3866T>C
13g.51939103A>TCA388023949ATP7Bc.*1297T>A (n.*1297T>A)
c.*2391T>A (n.*2391T>A)
c.3026T>A (p.Val1009Glu)
c.3647T>A (p.Val1216Glu)
c.3314T>A (p.Val1105Glu)
c.3395T>A (p.Val1132Glu)
n.888T>A
c.3413T>A (p.Val1138Glu)
n.3786T>A
n.513T>A
c.2582T>A (p.Val861Glu)
c.2357T>A (p.Val786Glu)
c.3452T>A (p.Val1151Glu)
c.1425T>A
c.*748T>A (n.*748T>A)
n.4391T>A
n.2992T>A
c.3503T>A (p.Val1168Glu)
c.3551T>A (p.Val1184Glu)
c.3611T>A (p.Val1204Glu)
c.3161T>A (p.Val1054Glu)
c.1463T>A (p.Val488Glu)
c.1280T>A (p.Val427Glu)
c.3512T>A (p.Val1171Glu)
c.3464T>A (p.Val1155Glu)
c.3233T>A (p.Val1078Glu)
c.3134T>A (p.Val1045Glu)
c.2315T>A (p.Val772Glu)
n.3866T>A
13g.51939104C>ACA388023954ATP7Bc.*1296G>T (n.*1296G>T)
c.*2390G>T (n.*2390G>T)
c.3025G>T (p.Val1009Leu)
c.3646G>T (p.Val1216Leu)
c.3313G>T (p.Val1105Leu)
c.3394G>T (p.Val1132Leu)
n.887G>T
c.3412G>T (p.Val1138Leu)
n.3785G>T
n.512G>T
c.2581G>T (p.Val861Leu)
c.2356G>T (p.Val786Leu)
c.3451G>T (p.Val1151Leu)
c.1424G>T
c.*747G>T (n.*747G>T)
n.4390G>T
n.2991G>T
c.3502G>T (p.Val1168Leu)
c.3550G>T (p.Val1184Leu)
c.3610G>T (p.Val1204Leu)
c.3160G>T (p.Val1054Leu)
c.1462G>T (p.Val488Leu)
c.1279G>T (p.Val427Leu)
c.3511G>T (p.Val1171Leu)
c.3463G>T (p.Val1155Leu)
c.3232G>T (p.Val1078Leu)
c.3133G>T (p.Val1045Leu)
c.2314G>T (p.Val772Leu)
n.3865G>T
13g.51939104C=CA2091556770ATP7Bc.*1296G= (n.*1296G=)
c.*2390G= (n.*2390G=)
c.3025G= (p.Val1009=)
c.3646G= (p.Val1216=)
c.3313G= (p.Val1105=)
c.3394G= (p.Val1132=)
n.887G=
c.3412G= (p.Val1138=)
n.3785G=
n.512G=
c.2581G= (p.Val861=)
c.2356G= (p.Val786=)
c.3451G= (p.Val1151=)
c.1424G=
c.*747G= (n.*747G=)
n.4390G=
n.2991G=
c.3502G= (p.Val1168=)
c.3550G= (p.Val1184=)
c.3610G= (p.Val1204=)
c.3160G= (p.Val1054=)
c.1462G= (p.Val488=)
c.1279G= (p.Val427=)
c.3511G= (p.Val1171=)
c.3463G= (p.Val1155=)
c.3232G= (p.Val1078=)
c.3133G= (p.Val1045=)
c.2314G= (p.Val772=)
n.3865G=
13g.51939104C>GCA388023956ATP7Bc.*1296G>C (n.*1296G>C)
c.*2390G>C (n.*2390G>C)
c.3025G>C (p.Val1009Leu)
c.3646G>C (p.Val1216Leu)
c.3313G>C (p.Val1105Leu)
c.3394G>C (p.Val1132Leu)
n.887G>C
c.3412G>C (p.Val1138Leu)
n.3785G>C
n.512G>C
c.2581G>C (p.Val861Leu)
c.2356G>C (p.Val786Leu)
c.3451G>C (p.Val1151Leu)
c.1424G>C
c.*747G>C (n.*747G>C)
n.4390G>C
n.2991G>C
c.3502G>C (p.Val1168Leu)
c.3550G>C (p.Val1184Leu)
c.3610G>C (p.Val1204Leu)
c.3160G>C (p.Val1054Leu)
c.1462G>C (p.Val488Leu)
c.1279G>C (p.Val427Leu)
c.3511G>C (p.Val1171Leu)
c.3463G>C (p.Val1155Leu)
c.3232G>C (p.Val1078Leu)
c.3133G>C (p.Val1045Leu)
c.2314G>C (p.Val772Leu)
n.3865G>C
 gnomAD v4
13g.51939104C>TCA274052ATP7Bc.*1296G>A (n.*1296G>A)
c.*2390G>A (n.*2390G>A)
c.3025G>A (p.Val1009Met)
c.3646G>A (p.Val1216Met)
c.3313G>A (p.Val1105Met)
c.3394G>A (p.Val1132Met)
n.887G>A
c.3412G>A (p.Val1138Met)
n.3785G>A
n.512G>A
c.2581G>A (p.Val861Met)
c.2356G>A (p.Val786Met)
c.3451G>A (p.Val1151Met)
c.1424G>A
c.*747G>A (n.*747G>A)
n.4390G>A
n.2991G>A
c.3502G>A (p.Val1168Met)
c.3550G>A (p.Val1184Met)
c.3610G>A (p.Val1204Met)
c.3160G>A (p.Val1054Met)
c.1462G>A (p.Val488Met)
c.1279G>A (p.Val427Met)
c.3511G>A (p.Val1171Met)
c.3463G>A (p.Val1155Met)
c.3232G>A (p.Val1078Met)
c.3133G>A (p.Val1045Met)
c.2314G>A (p.Val772Met)
n.3865G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51939105G>ACA6988616ATP7Bc.*1295C>T (n.*1295C>T)
c.*2389C>T (n.*2389C>T)
c.3024C>T (p.Asp1008=)
c.3645C>T (p.Asp1215=)
c.3312C>T (p.Asp1104=)
c.3393C>T (p.Asp1131=)
n.886C>T
c.3411C>T (p.Asp1137=)
n.3784C>T
n.511C>T
c.2580C>T (p.Asp860=)
c.2355C>T (p.Asp785=)
c.3450C>T (p.Asp1150=)
c.1423C>T
c.*746C>T (n.*746C>T)
n.4389C>T
n.2990C>T
c.3501C>T (p.Asp1167=)
c.3549C>T (p.Asp1183=)
c.3609C>T (p.Asp1203=)
c.3159C>T (p.Asp1053=)
c.1461C>T (p.Asp487=)
c.1278C>T (p.Asp426=)
c.3510C>T (p.Asp1170=)
c.3462C>T (p.Asp1154=)
c.3231C>T (p.Asp1077=)
c.3132C>T (p.Asp1044=)
c.2313C>T (p.Asp771=)
n.3864C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51939105G>CCA388023961ATP7Bc.*1295C>G (n.*1295C>G)
c.*2389C>G (n.*2389C>G)
c.3024C>G (p.Asp1008Glu)
c.3645C>G (p.Asp1215Glu)
c.3312C>G (p.Asp1104Glu)
c.3393C>G (p.Asp1131Glu)
n.886C>G
c.3411C>G (p.Asp1137Glu)
n.3784C>G
n.511C>G
c.2580C>G (p.Asp860Glu)
c.2355C>G (p.Asp785Glu)
c.3450C>G (p.Asp1150Glu)
c.1423C>G
c.*746C>G (n.*746C>G)
n.4389C>G
n.2990C>G
c.3501C>G (p.Asp1167Glu)
c.3549C>G (p.Asp1183Glu)
c.3609C>G (p.Asp1203Glu)
c.3159C>G (p.Asp1053Glu)
c.1461C>G (p.Asp487Glu)
c.1278C>G (p.Asp426Glu)
c.3510C>G (p.Asp1170Glu)
c.3462C>G (p.Asp1154Glu)
c.3231C>G (p.Asp1077Glu)
c.3132C>G (p.Asp1044Glu)
c.2313C>G (p.Asp771Glu)
n.3864C>G
13g.51939105G=CA2091556776ATP7Bc.*1295C= (n.*1295C=)
c.*2389C= (n.*2389C=)
c.3024C= (p.Asp1008=)
c.3645C= (p.Asp1215=)
c.3312C= (p.Asp1104=)
c.3393C= (p.Asp1131=)
n.886C=
c.3411C= (p.Asp1137=)
n.3784C=
n.511C=
c.2580C= (p.Asp860=)
c.2355C= (p.Asp785=)
c.3450C= (p.Asp1150=)
c.1423C=
c.*746C= (n.*746C=)
n.4389C=
n.2990C=
c.3501C= (p.Asp1167=)
c.3549C= (p.Asp1183=)
c.3609C= (p.Asp1203=)
c.3159C= (p.Asp1053=)
c.1461C= (p.Asp487=)
c.1278C= (p.Asp426=)
c.3510C= (p.Asp1170=)
c.3462C= (p.Asp1154=)
c.3231C= (p.Asp1077=)
c.3132C= (p.Asp1044=)
c.2313C= (p.Asp771=)
n.3864C=
13g.51939105G>TCA388023962ATP7Bc.*1295C>A (n.*1295C>A)
c.*2389C>A (n.*2389C>A)
c.3024C>A (p.Asp1008Glu)
c.3645C>A (p.Asp1215Glu)
c.3312C>A (p.Asp1104Glu)
c.3393C>A (p.Asp1131Glu)
n.886C>A
c.3411C>A (p.Asp1137Glu)
n.3784C>A
n.511C>A
c.2580C>A (p.Asp860Glu)
c.2355C>A (p.Asp785Glu)
c.3450C>A (p.Asp1150Glu)
c.1423C>A
c.*746C>A (n.*746C>A)
n.4389C>A
n.2990C>A
c.3501C>A (p.Asp1167Glu)
c.3549C>A (p.Asp1183Glu)
c.3609C>A (p.Asp1203Glu)
c.3159C>A (p.Asp1053Glu)
c.1461C>A (p.Asp487Glu)
c.1278C>A (p.Asp426Glu)
c.3510C>A (p.Asp1170Glu)
c.3462C>A (p.Asp1154Glu)
c.3231C>A (p.Asp1077Glu)
c.3132C>A (p.Asp1044Glu)
c.2313C>A (p.Asp771Glu)
n.3864C>A
13g.51939106T>ACA388023973ATP7Bc.*1294A>T (n.*1294A>T)
c.*2388A>T (n.*2388A>T)
c.3023A>T (p.Asp1008Val)
c.3644A>T (p.Asp1215Val)
c.3311A>T (p.Asp1104Val)
c.3392A>T (p.Asp1131Val)
n.885A>T
c.3410A>T (p.Asp1137Val)
n.3783A>T
n.510A>T
c.2579A>T (p.Asp860Val)
c.2354A>T (p.Asp785Val)
c.3449A>T (p.Asp1150Val)
c.1422A>T
c.*745A>T (n.*745A>T)
n.4388A>T
n.2989A>T
c.3500A>T (p.Asp1167Val)
c.3548A>T (p.Asp1183Val)
c.3608A>T (p.Asp1203Val)
c.3158A>T (p.Asp1053Val)
c.1460A>T (p.Asp487Val)
c.1277A>T (p.Asp426Val)
c.3509A>T (p.Asp1170Val)
c.3461A>T (p.Asp1154Val)
c.3230A>T (p.Asp1077Val)
c.3131A>T (p.Asp1044Val)
c.2312A>T (p.Asp771Val)
n.3863A>T
13g.51939106T>CCA388023964ATP7Bc.*1294A>G (n.*1294A>G)
c.*2388A>G (n.*2388A>G)
c.3023A>G (p.Asp1008Gly)
c.3644A>G (p.Asp1215Gly)
c.3311A>G (p.Asp1104Gly)
c.3392A>G (p.Asp1131Gly)
n.885A>G
c.3410A>G (p.Asp1137Gly)
n.3783A>G
n.510A>G
c.2579A>G (p.Asp860Gly)
c.2354A>G (p.Asp785Gly)
c.3449A>G (p.Asp1150Gly)
c.1422A>G
c.*745A>G (n.*745A>G)
n.4388A>G
n.2989A>G
c.3500A>G (p.Asp1167Gly)
c.3548A>G (p.Asp1183Gly)
c.3608A>G (p.Asp1203Gly)
c.3158A>G (p.Asp1053Gly)
c.1460A>G (p.Asp487Gly)
c.1277A>G (p.Asp426Gly)
c.3509A>G (p.Asp1170Gly)
c.3461A>G (p.Asp1154Gly)
c.3230A>G (p.Asp1077Gly)
c.3131A>G (p.Asp1044Gly)
c.2312A>G (p.Asp771Gly)
n.3863A>G
 ClinVar dbSNP
13g.51939106T>GCA388023963ATP7Bc.*1294A>C (n.*1294A>C)
c.*2388A>C (n.*2388A>C)
c.3023A>C (p.Asp1008Ala)
c.3644A>C (p.Asp1215Ala)
c.3311A>C (p.Asp1104Ala)
c.3392A>C (p.Asp1131Ala)
n.885A>C
c.3410A>C (p.Asp1137Ala)
n.3783A>C
n.510A>C
c.2579A>C (p.Asp860Ala)
c.2354A>C (p.Asp785Ala)
c.3449A>C (p.Asp1150Ala)
c.1422A>C
c.*745A>C (n.*745A>C)
n.4388A>C
n.2989A>C
c.3500A>C (p.Asp1167Ala)
c.3548A>C (p.Asp1183Ala)
c.3608A>C (p.Asp1203Ala)
c.3158A>C (p.Asp1053Ala)
c.1460A>C (p.Asp487Ala)
c.1277A>C (p.Asp426Ala)
c.3509A>C (p.Asp1170Ala)
c.3461A>C (p.Asp1154Ala)
c.3230A>C (p.Asp1077Ala)
c.3131A>C (p.Asp1044Ala)
c.2312A>C (p.Asp771Ala)
n.3863A>C
13g.51939106T=CA2091556779ATP7Bc.*1294A= (n.*1294A=)
c.*2388A= (n.*2388A=)
c.3023A= (p.Asp1008=)
c.3644A= (p.Asp1215=)
c.3311A= (p.Asp1104=)
c.3392A= (p.Asp1131=)
n.885A=
c.3410A= (p.Asp1137=)
n.3783A=
n.510A=
c.2579A= (p.Asp860=)
c.2354A= (p.Asp785=)
c.3449A= (p.Asp1150=)
c.1422A=
c.*745A= (n.*745A=)
n.4388A=
n.2989A=
c.3500A= (p.Asp1167=)
c.3548A= (p.Asp1183=)
c.3608A= (p.Asp1203=)
c.3158A= (p.Asp1053=)
c.1460A= (p.Asp487=)
c.1277A= (p.Asp426=)
c.3509A= (p.Asp1170=)
c.3461A= (p.Asp1154=)
c.3230A= (p.Asp1077=)
c.3131A= (p.Asp1044=)
c.2312A= (p.Asp771=)
n.3863A=
13g.51939107C>ACA388023976ATP7Bc.*1293G>T (n.*1293G>T)
c.*2387G>T (n.*2387G>T)
c.3022G>T (p.Asp1008Tyr)
c.3643G>T (p.Asp1215Tyr)
c.3310G>T (p.Asp1104Tyr)
c.3391G>T (p.Asp1131Tyr)
n.884G>T
c.3409G>T (p.Asp1137Tyr)
n.3782G>T
n.509G>T
c.2578G>T (p.Asp860Tyr)
c.2353G>T (p.Asp785Tyr)
c.3448G>T (p.Asp1150Tyr)
c.1421G>T
c.*744G>T (n.*744G>T)
n.4387G>T
n.2988G>T
c.3499G>T (p.Asp1167Tyr)
c.3547G>T (p.Asp1183Tyr)
c.3607G>T (p.Asp1203Tyr)
c.3157G>T (p.Asp1053Tyr)
c.1459G>T (p.Asp487Tyr)
c.1276G>T (p.Asp426Tyr)
c.3508G>T (p.Asp1170Tyr)
c.3460G>T (p.Asp1154Tyr)
c.3229G>T (p.Asp1077Tyr)
c.3130G>T (p.Asp1044Tyr)
c.2311G>T (p.Asp771Tyr)
n.3862G>T
13g.51939107C>GCA388023980ATP7Bc.*1293G>C (n.*1293G>C)
c.*2387G>C (n.*2387G>C)
c.3022G>C (p.Asp1008His)
c.3643G>C (p.Asp1215His)
c.3310G>C (p.Asp1104His)
c.3391G>C (p.Asp1131His)
n.884G>C
c.3409G>C (p.Asp1137His)
n.3782G>C
n.509G>C
c.2578G>C (p.Asp860His)
c.2353G>C (p.Asp785His)
c.3448G>C (p.Asp1150His)
c.1421G>C
c.*744G>C (n.*744G>C)
n.4387G>C
n.2988G>C
c.3499G>C (p.Asp1167His)
c.3547G>C (p.Asp1183His)
c.3607G>C (p.Asp1203His)
c.3157G>C (p.Asp1053His)
c.1459G>C (p.Asp487His)
c.1276G>C (p.Asp426His)
c.3508G>C (p.Asp1170His)
c.3460G>C (p.Asp1154His)
c.3229G>C (p.Asp1077His)
c.3130G>C (p.Asp1044His)
c.2311G>C (p.Asp771His)
n.3862G>C
13g.51939107C>TCA388023978ATP7Bc.*1293G>A (n.*1293G>A)
c.*2387G>A (n.*2387G>A)
c.3022G>A (p.Asp1008Asn)
c.3643G>A (p.Asp1215Asn)
c.3310G>A (p.Asp1104Asn)
c.3391G>A (p.Asp1131Asn)
n.884G>A
c.3409G>A (p.Asp1137Asn)
n.3782G>A
n.509G>A
c.2578G>A (p.Asp860Asn)
c.2353G>A (p.Asp785Asn)
c.3448G>A (p.Asp1150Asn)
c.1421G>A
c.*744G>A (n.*744G>A)
n.4387G>A
n.2988G>A
c.3499G>A (p.Asp1167Asn)
c.3547G>A (p.Asp1183Asn)
c.3607G>A (p.Asp1203Asn)
c.3157G>A (p.Asp1053Asn)
c.1459G>A (p.Asp487Asn)
c.1276G>A (p.Asp426Asn)
c.3508G>A (p.Asp1170Asn)
c.3460G>A (p.Asp1154Asn)
c.3229G>A (p.Asp1077Asn)
c.3130G>A (p.Asp1044Asn)
c.2311G>A (p.Asp771Asn)
n.3862G>A
 COSMIC
13g.51939108C>ACA483893752ATP7Bc.*1292G>T (n.*1292G>T)
c.*2386G>T (n.*2386G>T)
c.3021G>T (p.Val1007=)
c.3642G>T (p.Val1214=)
c.3309G>T (p.Val1103=)
c.3390G>T (p.Val1130=)
n.883G>T
c.3408G>T (p.Val1136=)
n.3781G>T
n.508G>T
c.2577G>T (p.Val859=)
c.2352G>T (p.Val784=)
c.3447G>T (p.Val1149=)
c.1420G>T
c.*743G>T (n.*743G>T)
n.4386G>T
n.2987G>T
c.3498G>T (p.Val1166=)
c.3546G>T (p.Val1182=)
c.3606G>T (p.Val1202=)
c.3156G>T (p.Val1052=)
c.1458G>T (p.Val486=)
c.1275G>T (p.Val425=)
c.3507G>T (p.Val1169=)
c.3459G>T (p.Val1153=)
c.3228G>T (p.Val1076=)
c.3129G>T (p.Val1043=)
c.2310G>T (p.Val770=)
n.3861G>T
13g.51939108C=CA2091556783ATP7Bc.*1292G= (n.*1292G=)
c.*2386G= (n.*2386G=)
c.3021G= (p.Val1007=)
c.3642G= (p.Val1214=)
c.3309G= (p.Val1103=)
c.3390G= (p.Val1130=)
n.883G=
c.3408G= (p.Val1136=)
n.3781G=
n.508G=
c.2577G= (p.Val859=)
c.2352G= (p.Val784=)
c.3447G= (p.Val1149=)
c.1420G=
c.*743G= (n.*743G=)
n.4386G=
n.2987G=
c.3498G= (p.Val1166=)
c.3546G= (p.Val1182=)
c.3606G= (p.Val1202=)
c.3156G= (p.Val1052=)
c.1458G= (p.Val486=)
c.1275G= (p.Val425=)
c.3507G= (p.Val1169=)
c.3459G= (p.Val1153=)
c.3228G= (p.Val1076=)
c.3129G= (p.Val1043=)
c.2310G= (p.Val770=)
n.3861G=
13g.51939108C>GCA483893753ATP7Bc.*1292G>C (n.*1292G>C)
c.*2386G>C (n.*2386G>C)
c.3021G>C (p.Val1007=)
c.3642G>C (p.Val1214=)
c.3309G>C (p.Val1103=)
c.3390G>C (p.Val1130=)
n.883G>C
c.3408G>C (p.Val1136=)
n.3781G>C
n.508G>C
c.2577G>C (p.Val859=)
c.2352G>C (p.Val784=)
c.3447G>C (p.Val1149=)
c.1420G>C
c.*743G>C (n.*743G>C)
n.4386G>C
n.2987G>C
c.3498G>C (p.Val1166=)
c.3546G>C (p.Val1182=)
c.3606G>C (p.Val1202=)
c.3156G>C (p.Val1052=)
c.1458G>C (p.Val486=)
c.1275G>C (p.Val425=)
c.3507G>C (p.Val1169=)
c.3459G>C (p.Val1153=)
c.3228G>C (p.Val1076=)
c.3129G>C (p.Val1043=)
c.2310G>C (p.Val770=)
n.3861G>C
 gnomAD v4
13g.51939108C>TCA483893754ATP7Bc.*1292G>A (n.*1292G>A)
c.*2386G>A (n.*2386G>A)
c.3021G>A (p.Val1007=)
c.3642G>A (p.Val1214=)
c.3309G>A (p.Val1103=)
c.3390G>A (p.Val1130=)
n.883G>A
c.3408G>A (p.Val1136=)
n.3781G>A
n.508G>A
c.2577G>A (p.Val859=)
c.2352G>A (p.Val784=)
c.3447G>A (p.Val1149=)
c.1420G>A
c.*743G>A (n.*743G>A)
n.4386G>A
n.2987G>A
c.3498G>A (p.Val1166=)
c.3546G>A (p.Val1182=)
c.3606G>A (p.Val1202=)
c.3156G>A (p.Val1052=)
c.1458G>A (p.Val486=)
c.1275G>A (p.Val425=)
c.3507G>A (p.Val1169=)
c.3459G>A (p.Val1153=)
c.3228G>A (p.Val1076=)
c.3129G>A (p.Val1043=)
c.2310G>A (p.Val770=)
n.3861G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51939111_51939112delCA2695218773ATP7Bc.*1291_*1292del (n.*1291_*1292del)
c.*2385_*2386del (n.*2385_*2386del)
c.3020_3021del (p.Val1007GlyfsTer?)
c.3641_3642del (p.Val1214GlyfsTer?)
c.3308_3309del (p.Val1103GlyfsTer?)
c.3389_3390del (p.Val1130GlyfsTer?)
n.882_883del
c.3407_3408del (p.Val1136GlyfsTer?)
n.3780_3781del
n.507_508del
c.2576_2577del (p.Val859GlyfsTer?)
c.2351_2352del (p.Val784GlyfsTer?)
c.3446_3447del (p.Val1149GlyfsTer?)
c.1419_1420del
c.*742_*743del (n.*742_*743del)
n.4385_4386del
n.2986_2987del
c.3497_3498del (p.Val1166GlyfsTer?)
c.3545_3546del (p.Val1182GlyfsTer?)
c.3605_3606del (p.Val1202GlyfsTer?)
c.3155_3156del (p.Val1052GlyfsTer?)
c.1457_1458del (p.Val486GlyfsTer?)
c.1274_1275del (p.Val425GlyfsTer?)
c.3506_3507del (p.Val1169GlyfsTer?)
c.3458_3459del (p.Val1153GlyfsTer?)
c.3227_3228del (p.Val1076GlyfsTer?)
c.3128_3129del (p.Val1043GlyfsTer?)
c.2309_2310del (p.Val770GlyfsTer?)
n.3860_3861del
13g.51939109A>CCA388023982ATP7Bc.*1291T>G (n.*1291T>G)
c.*2385T>G (n.*2385T>G)
c.3020T>G (p.Val1007Gly)
c.3641T>G (p.Val1214Gly)
c.3308T>G (p.Val1103Gly)
c.3389T>G (p.Val1130Gly)
n.882T>G
c.3407T>G (p.Val1136Gly)
n.3780T>G
n.507T>G
c.2576T>G (p.Val859Gly)
c.2351T>G (p.Val784Gly)
c.3446T>G (p.Val1149Gly)
c.1419T>G
c.*742T>G (n.*742T>G)
n.4385T>G
n.2986T>G
c.3497T>G (p.Val1166Gly)
c.3545T>G (p.Val1182Gly)
c.3605T>G (p.Val1202Gly)
c.3155T>G (p.Val1052Gly)
c.1457T>G (p.Val486Gly)
c.1274T>G (p.Val425Gly)
c.3506T>G (p.Val1169Gly)
c.3458T>G (p.Val1153Gly)
c.3227T>G (p.Val1076Gly)
c.3128T>G (p.Val1043Gly)
c.2309T>G (p.Val770Gly)
n.3860T>G
13g.51939109A>GCA388023984ATP7Bc.*1291T>C (n.*1291T>C)
c.*2385T>C (n.*2385T>C)
c.3020T>C (p.Val1007Ala)
c.3641T>C (p.Val1214Ala)
c.3308T>C (p.Val1103Ala)
c.3389T>C (p.Val1130Ala)
n.882T>C
c.3407T>C (p.Val1136Ala)
n.3780T>C
n.507T>C
c.2576T>C (p.Val859Ala)
c.2351T>C (p.Val784Ala)
c.3446T>C (p.Val1149Ala)
c.1419T>C
c.*742T>C (n.*742T>C)
n.4385T>C
n.2986T>C
c.3497T>C (p.Val1166Ala)
c.3545T>C (p.Val1182Ala)
c.3605T>C (p.Val1202Ala)
c.3155T>C (p.Val1052Ala)
c.1457T>C (p.Val486Ala)
c.1274T>C (p.Val425Ala)
c.3506T>C (p.Val1169Ala)
c.3458T>C (p.Val1153Ala)
c.3227T>C (p.Val1076Ala)
c.3128T>C (p.Val1043Ala)
c.2309T>C (p.Val770Ala)
n.3860T>C
13g.51939109A>TCA388023986ATP7Bc.*1291T>A (n.*1291T>A)
c.*2385T>A (n.*2385T>A)
c.3020T>A (p.Val1007Glu)
c.3641T>A (p.Val1214Glu)
c.3308T>A (p.Val1103Glu)
c.3389T>A (p.Val1130Glu)
n.882T>A
c.3407T>A (p.Val1136Glu)
n.3780T>A
n.507T>A
c.2576T>A (p.Val859Glu)
c.2351T>A (p.Val784Glu)
c.3446T>A (p.Val1149Glu)
c.1419T>A
c.*742T>A (n.*742T>A)
n.4385T>A
n.2986T>A
c.3497T>A (p.Val1166Glu)
c.3545T>A (p.Val1182Glu)
c.3605T>A (p.Val1202Glu)
c.3155T>A (p.Val1052Glu)
c.1457T>A (p.Val486Glu)
c.1274T>A (p.Val425Glu)
c.3506T>A (p.Val1169Glu)
c.3458T>A (p.Val1153Glu)
c.3227T>A (p.Val1076Glu)
c.3128T>A (p.Val1043Glu)
c.2309T>A (p.Val770Glu)
n.3860T>A
13g.51939110C>ACA388023987ATP7Bc.*1290G>T (n.*1290G>T)
c.*2384G>T (n.*2384G>T)
c.3019G>T (p.Val1007Leu)
c.3640G>T (p.Val1214Leu)
c.3307G>T (p.Val1103Leu)
c.3388G>T (p.Val1130Leu)
n.881G>T
c.3406G>T (p.Val1136Leu)
n.3779G>T
n.506G>T
c.2575G>T (p.Val859Leu)
c.2350G>T (p.Val784Leu)
c.3445G>T (p.Val1149Leu)
c.1418G>T
c.*741G>T (n.*741G>T)
n.4384G>T
n.2985G>T
c.3496G>T (p.Val1166Leu)
c.3544G>T (p.Val1182Leu)
c.3604G>T (p.Val1202Leu)
c.3154G>T (p.Val1052Leu)
c.1456G>T (p.Val486Leu)
c.1273G>T (p.Val425Leu)
c.3505G>T (p.Val1169Leu)
c.3457G>T (p.Val1153Leu)
c.3226G>T (p.Val1076Leu)
c.3127G>T (p.Val1043Leu)
c.2308G>T (p.Val770Leu)
n.3859G>T
13g.51939110C>GCA388023990ATP7Bc.*1290G>C (n.*1290G>C)
c.*2384G>C (n.*2384G>C)
c.3019G>C (p.Val1007Leu)
c.3640G>C (p.Val1214Leu)
c.3307G>C (p.Val1103Leu)
c.3388G>C (p.Val1130Leu)
n.881G>C
c.3406G>C (p.Val1136Leu)
n.3779G>C
n.506G>C
c.2575G>C (p.Val859Leu)
c.2350G>C (p.Val784Leu)
c.3445G>C (p.Val1149Leu)
c.1418G>C
c.*741G>C (n.*741G>C)
n.4384G>C
n.2985G>C
c.3496G>C (p.Val1166Leu)
c.3544G>C (p.Val1182Leu)
c.3604G>C (p.Val1202Leu)
c.3154G>C (p.Val1052Leu)
c.1456G>C (p.Val486Leu)
c.1273G>C (p.Val425Leu)
c.3505G>C (p.Val1169Leu)
c.3457G>C (p.Val1153Leu)
c.3226G>C (p.Val1076Leu)
c.3127G>C (p.Val1043Leu)
c.2308G>C (p.Val770Leu)
n.3859G>C
13g.51939110C>TCA388023994ATP7Bc.*1290G>A (n.*1290G>A)
c.*2384G>A (n.*2384G>A)
c.3019G>A (p.Val1007Met)
c.3640G>A (p.Val1214Met)
c.3307G>A (p.Val1103Met)
c.3388G>A (p.Val1130Met)
n.881G>A
c.3406G>A (p.Val1136Met)
n.3779G>A
n.506G>A
c.2575G>A (p.Val859Met)
c.2350G>A (p.Val784Met)
c.3445G>A (p.Val1149Met)
c.1418G>A
c.*741G>A (n.*741G>A)
n.4384G>A
n.2985G>A
c.3496G>A (p.Val1166Met)
c.3544G>A (p.Val1182Met)
c.3604G>A (p.Val1202Met)
c.3154G>A (p.Val1052Met)
c.1456G>A (p.Val486Met)
c.1273G>A (p.Val425Met)
c.3505G>A (p.Val1169Met)
c.3457G>A (p.Val1153Met)
c.3226G>A (p.Val1076Met)
c.3127G>A (p.Val1043Met)
c.2308G>A (p.Val770Met)
n.3859G>A
13g.51939111A=CA2091556786ATP7Bc.*1289T= (n.*1289T=)
c.*2383T= (n.*2383T=)
c.3018T= (p.Gly1006=)
c.3639T= (p.Gly1213=)
c.3306T= (p.Gly1102=)
c.3387T= (p.Gly1129=)
n.880T=
c.3405T= (p.Gly1135=)
n.3778T=
n.505T=
c.2574T= (p.Gly858=)
c.2349T= (p.Gly783=)
c.3444T= (p.Gly1148=)
c.1417T=
c.*740T= (n.*740T=)
n.4383T=
n.2984T=
c.3495T= (p.Gly1165=)
c.3543T= (p.Gly1181=)
c.3603T= (p.Gly1201=)
c.3153T= (p.Gly1051=)
c.1455T= (p.Gly485=)
c.1272T= (p.Gly424=)
c.3504T= (p.Gly1168=)
c.3456T= (p.Gly1152=)
c.3225T= (p.Gly1075=)
c.3126T= (p.Gly1042=)
c.2307T= (p.Gly769=)
n.3858T=
13g.51939111A>CCA483893757ATP7Bc.*1289T>G (n.*1289T>G)
c.*2383T>G (n.*2383T>G)
c.3018T>G (p.Gly1006=)
c.3639T>G (p.Gly1213=)
c.3306T>G (p.Gly1102=)
c.3387T>G (p.Gly1129=)
n.880T>G
c.3405T>G (p.Gly1135=)
n.3778T>G
n.505T>G
c.2574T>G (p.Gly858=)
c.2349T>G (p.Gly783=)
c.3444T>G (p.Gly1148=)
c.1417T>G
c.*740T>G (n.*740T>G)
n.4383T>G
n.2984T>G
c.3495T>G (p.Gly1165=)
c.3543T>G (p.Gly1181=)
c.3603T>G (p.Gly1201=)
c.3153T>G (p.Gly1051=)
c.1455T>G (p.Gly485=)
c.1272T>G (p.Gly424=)
c.3504T>G (p.Gly1168=)
c.3456T>G (p.Gly1152=)
c.3225T>G (p.Gly1075=)
c.3126T>G (p.Gly1042=)
c.2307T>G (p.Gly769=)
n.3858T>G
 ClinVar dbSNP gnomAD v4
13g.51939111A>GCA483893758ATP7Bc.*1289T>C (n.*1289T>C)
c.*2383T>C (n.*2383T>C)
c.3018T>C (p.Gly1006=)
c.3639T>C (p.Gly1213=)
c.3306T>C (p.Gly1102=)
c.3387T>C (p.Gly1129=)
n.880T>C
c.3405T>C (p.Gly1135=)
n.3778T>C
n.505T>C
c.2574T>C (p.Gly858=)
c.2349T>C (p.Gly783=)
c.3444T>C (p.Gly1148=)
c.1417T>C
c.*740T>C (n.*740T>C)
n.4383T>C
n.2984T>C
c.3495T>C (p.Gly1165=)
c.3543T>C (p.Gly1181=)
c.3603T>C (p.Gly1201=)
c.3153T>C (p.Gly1051=)
c.1455T>C (p.Gly485=)
c.1272T>C (p.Gly424=)
c.3504T>C (p.Gly1168=)
c.3456T>C (p.Gly1152=)
c.3225T>C (p.Gly1075=)
c.3126T>C (p.Gly1042=)
c.2307T>C (p.Gly769=)
n.3858T>C
13g.51939111A>TCA483893759ATP7Bc.*1289T>A (n.*1289T>A)
c.*2383T>A (n.*2383T>A)
c.3018T>A (p.Gly1006=)
c.3639T>A (p.Gly1213=)
c.3306T>A (p.Gly1102=)
c.3387T>A (p.Gly1129=)
n.880T>A
c.3405T>A (p.Gly1135=)
n.3778T>A
n.505T>A
c.2574T>A (p.Gly858=)
c.2349T>A (p.Gly783=)
c.3444T>A (p.Gly1148=)
c.1417T>A
c.*740T>A (n.*740T>A)
n.4383T>A
n.2984T>A
c.3495T>A (p.Gly1165=)
c.3543T>A (p.Gly1181=)
c.3603T>A (p.Gly1201=)
c.3153T>A (p.Gly1051=)
c.1455T>A (p.Gly485=)
c.1272T>A (p.Gly424=)
c.3504T>A (p.Gly1168=)
c.3456T>A (p.Gly1152=)
c.3225T>A (p.Gly1075=)
c.3126T>A (p.Gly1042=)
c.2307T>A (p.Gly769=)
n.3858T>A

Number of alleles fetched