Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51937268C=CA2091553280ATP7Bc.*1671+8G= (n.*1671+8G=)
c.*2765+8G= (n.*2765+8G=)
c.3400+8G= (n.3400+8G=)
c.4021+8G= (n.4021+8G=)
c.3688+8G= (n.3688+8G=)
c.3769+8G= (n.3769+8G=)
n.1344+8G=
c.3787+8G= (n.3787+8G=)
n.4160+8G=
n.887+8G=
c.2956+8G= (n.2956+8G=)
c.2731+8G= (n.2731+8G=)
c.3826+8G= (n.3826+8G=)
c.1799+8G=
c.*1122+8G= (n.*1122+8G=)
n.4765+8G=
n.3366+8G=
c.3877+8G= (n.3877+8G=)
c.3925+8G= (n.3925+8G=)
c.3985+8G= (n.3985+8G=)
c.3535+8G= (n.3535+8G=)
c.1837+8G= (n.1837+8G=)
c.1654+8G= (n.1654+8G=)
c.3886+8G= (n.3886+8G=)
c.3838+8G= (n.3838+8G=)
c.3607+8G= (n.3607+8G=)
c.3508+8G= (n.3508+8G=)
c.2689+8G= (n.2689+8G=)
n.4240+8G=
13g.51937268C>TCA609962651ATP7Bc.*1671+8G>A (n.*1671+8G>A)
c.*2765+8G>A (n.*2765+8G>A)
c.3400+8G>A (n.3400+8G>A)
c.4021+8G>A (n.4021+8G>A)
c.3688+8G>A (n.3688+8G>A)
c.3769+8G>A (n.3769+8G>A)
n.1344+8G>A
c.3787+8G>A (n.3787+8G>A)
n.4160+8G>A
n.887+8G>A
c.2956+8G>A (n.2956+8G>A)
c.2731+8G>A (n.2731+8G>A)
c.3826+8G>A (n.3826+8G>A)
c.1799+8G>A
c.*1122+8G>A (n.*1122+8G>A)
n.4765+8G>A
n.3366+8G>A
c.3877+8G>A (n.3877+8G>A)
c.3925+8G>A (n.3925+8G>A)
c.3985+8G>A (n.3985+8G>A)
c.3535+8G>A (n.3535+8G>A)
c.1837+8G>A (n.1837+8G>A)
c.1654+8G>A (n.1654+8G>A)
c.3886+8G>A (n.3886+8G>A)
c.3838+8G>A (n.3838+8G>A)
c.3607+8G>A (n.3607+8G>A)
c.3508+8G>A (n.3508+8G>A)
c.2689+8G>A (n.2689+8G>A)
n.4240+8G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51937269delCA2573149690ATP7Bc.*1671+7del (n.*1671+7del)
c.*2765+7del (n.*2765+7del)
c.3400+7del (n.3400+7del)
c.4021+7del (n.4021+7del)
c.3688+7del (n.3688+7del)
c.3769+7del (n.3769+7del)
n.1344+7del
c.3787+7del (n.3787+7del)
n.4160+7del
n.887+7del
c.2956+7del (n.2956+7del)
c.2731+7del (n.2731+7del)
c.3826+7del (n.3826+7del)
c.1799+7del
c.*1122+7del (n.*1122+7del)
n.4765+7del
n.3366+7del
c.3877+7del (n.3877+7del)
c.3925+7del (n.3925+7del)
c.3985+7del (n.3985+7del)
c.3535+7del (n.3535+7del)
c.1837+7del (n.1837+7del)
c.1654+7del (n.1654+7del)
c.3886+7del (n.3886+7del)
c.3838+7del (n.3838+7del)
c.3607+7del (n.3607+7del)
c.3508+7del (n.3508+7del)
c.2689+7del (n.2689+7del)
n.4240+7del
 ClinVar dbSNP gnomAD v4
13g.51937269T>GCA2740097671ATP7Bc.*1671+7A>C (n.*1671+7A>C)
c.*2765+7A>C (n.*2765+7A>C)
c.3400+7A>C (n.3400+7A>C)
c.4021+7A>C (n.4021+7A>C)
c.3688+7A>C (n.3688+7A>C)
c.3769+7A>C (n.3769+7A>C)
n.1344+7A>C
c.3787+7A>C (n.3787+7A>C)
n.4160+7A>C
n.887+7A>C
c.2956+7A>C (n.2956+7A>C)
c.2731+7A>C (n.2731+7A>C)
c.3826+7A>C (n.3826+7A>C)
c.1799+7A>C
c.*1122+7A>C (n.*1122+7A>C)
n.4765+7A>C
n.3366+7A>C
c.3877+7A>C (n.3877+7A>C)
c.3925+7A>C (n.3925+7A>C)
c.3985+7A>C (n.3985+7A>C)
c.3535+7A>C (n.3535+7A>C)
c.1837+7A>C (n.1837+7A>C)
c.1654+7A>C (n.1654+7A>C)
c.3886+7A>C (n.3886+7A>C)
c.3838+7A>C (n.3838+7A>C)
c.3607+7A>C (n.3607+7A>C)
c.3508+7A>C (n.3508+7A>C)
c.2689+7A>C (n.2689+7A>C)
n.4240+7A>C
 ClinVar
13g.51937271C=CA2091553281ATP7Bc.*1671+5G= (n.*1671+5G=)
c.*2765+5G= (n.*2765+5G=)
c.3400+5G= (n.3400+5G=)
c.4021+5G= (n.4021+5G=)
c.3688+5G= (n.3688+5G=)
c.3769+5G= (n.3769+5G=)
n.1344+5G=
c.3787+5G= (n.3787+5G=)
n.4160+5G=
n.887+5G=
c.2956+5G= (n.2956+5G=)
c.2731+5G= (n.2731+5G=)
c.3826+5G= (n.3826+5G=)
c.1799+5G=
c.*1122+5G= (n.*1122+5G=)
n.4765+5G=
n.3366+5G=
c.3877+5G= (n.3877+5G=)
c.3925+5G= (n.3925+5G=)
c.3985+5G= (n.3985+5G=)
c.3535+5G= (n.3535+5G=)
c.1837+5G= (n.1837+5G=)
c.1654+5G= (n.1654+5G=)
c.3886+5G= (n.3886+5G=)
c.3838+5G= (n.3838+5G=)
c.3607+5G= (n.3607+5G=)
c.3508+5G= (n.3508+5G=)
c.2689+5G= (n.2689+5G=)
n.4240+5G=
13g.51937271C>GCA250073302ATP7Bc.*1671+5G>C (n.*1671+5G>C)
c.*2765+5G>C (n.*2765+5G>C)
c.3400+5G>C (n.3400+5G>C)
c.4021+5G>C (n.4021+5G>C)
c.3688+5G>C (n.3688+5G>C)
c.3769+5G>C (n.3769+5G>C)
n.1344+5G>C
c.3787+5G>C (n.3787+5G>C)
n.4160+5G>C
n.887+5G>C
c.2956+5G>C (n.2956+5G>C)
c.2731+5G>C (n.2731+5G>C)
c.3826+5G>C (n.3826+5G>C)
c.1799+5G>C
c.*1122+5G>C (n.*1122+5G>C)
n.4765+5G>C
n.3366+5G>C
c.3877+5G>C (n.3877+5G>C)
c.3925+5G>C (n.3925+5G>C)
c.3985+5G>C (n.3985+5G>C)
c.3535+5G>C (n.3535+5G>C)
c.1837+5G>C (n.1837+5G>C)
c.1654+5G>C (n.1654+5G>C)
c.3886+5G>C (n.3886+5G>C)
c.3838+5G>C (n.3838+5G>C)
c.3607+5G>C (n.3607+5G>C)
c.3508+5G>C (n.3508+5G>C)
c.2689+5G>C (n.2689+5G>C)
n.4240+5G>C
 ClinVar dbSNP gnomAD v4
13g.51937271C>TCA2623119042ATP7Bc.*1671+5G>A (n.*1671+5G>A)
c.*2765+5G>A (n.*2765+5G>A)
c.3400+5G>A (n.3400+5G>A)
c.4021+5G>A (n.4021+5G>A)
c.3688+5G>A (n.3688+5G>A)
c.3769+5G>A (n.3769+5G>A)
n.1344+5G>A
c.3787+5G>A (n.3787+5G>A)
n.4160+5G>A
n.887+5G>A
c.2956+5G>A (n.2956+5G>A)
c.2731+5G>A (n.2731+5G>A)
c.3826+5G>A (n.3826+5G>A)
c.1799+5G>A
c.*1122+5G>A (n.*1122+5G>A)
n.4765+5G>A
n.3366+5G>A
c.3877+5G>A (n.3877+5G>A)
c.3925+5G>A (n.3925+5G>A)
c.3985+5G>A (n.3985+5G>A)
c.3535+5G>A (n.3535+5G>A)
c.1837+5G>A (n.1837+5G>A)
c.1654+5G>A (n.1654+5G>A)
c.3886+5G>A (n.3886+5G>A)
c.3838+5G>A (n.3838+5G>A)
c.3607+5G>A (n.3607+5G>A)
c.3508+5G>A (n.3508+5G>A)
c.2689+5G>A (n.2689+5G>A)
n.4240+5G>A
 gnomAD v4
13g.51937272C=CA2091553284ATP7Bc.*1671+4G= (n.*1671+4G=)
c.*2765+4G= (n.*2765+4G=)
c.3400+4G= (n.3400+4G=)
c.4021+4G= (n.4021+4G=)
c.3688+4G= (n.3688+4G=)
c.3769+4G= (n.3769+4G=)
n.1344+4G=
c.3787+4G= (n.3787+4G=)
n.4160+4G=
n.887+4G=
c.2956+4G= (n.2956+4G=)
c.2731+4G= (n.2731+4G=)
c.3826+4G= (n.3826+4G=)
c.1799+4G=
c.*1122+4G= (n.*1122+4G=)
n.4765+4G=
n.3366+4G=
c.3877+4G= (n.3877+4G=)
c.3925+4G= (n.3925+4G=)
c.3985+4G= (n.3985+4G=)
c.3535+4G= (n.3535+4G=)
c.1837+4G= (n.1837+4G=)
c.1654+4G= (n.1654+4G=)
c.3886+4G= (n.3886+4G=)
c.3838+4G= (n.3838+4G=)
c.3607+4G= (n.3607+4G=)
c.3508+4G= (n.3508+4G=)
c.2689+4G= (n.2689+4G=)
n.4240+4G=
13g.51937272C>TCA2623119046ATP7Bc.*1671+4G>A (n.*1671+4G>A)
c.*2765+4G>A (n.*2765+4G>A)
c.3400+4G>A (n.3400+4G>A)
c.4021+4G>A (n.4021+4G>A)
c.3688+4G>A (n.3688+4G>A)
c.3769+4G>A (n.3769+4G>A)
n.1344+4G>A
c.3787+4G>A (n.3787+4G>A)
n.4160+4G>A
n.887+4G>A
c.2956+4G>A (n.2956+4G>A)
c.2731+4G>A (n.2731+4G>A)
c.3826+4G>A (n.3826+4G>A)
c.1799+4G>A
c.*1122+4G>A (n.*1122+4G>A)
n.4765+4G>A
n.3366+4G>A
c.3877+4G>A (n.3877+4G>A)
c.3925+4G>A (n.3925+4G>A)
c.3985+4G>A (n.3985+4G>A)
c.3535+4G>A (n.3535+4G>A)
c.1837+4G>A (n.1837+4G>A)
c.1654+4G>A (n.1654+4G>A)
c.3886+4G>A (n.3886+4G>A)
c.3838+4G>A (n.3838+4G>A)
c.3607+4G>A (n.3607+4G>A)
c.3508+4G>A (n.3508+4G>A)
c.2689+4G>A (n.2689+4G>A)
n.4240+4G>A
 gnomAD v4
13g.51937273T>CCA6988518ATP7Bc.*1671+3A>G (n.*1671+3A>G)
c.*2765+3A>G (n.*2765+3A>G)
c.3400+3A>G (n.3400+3A>G)
c.4021+3A>G (n.4021+3A>G)
c.3688+3A>G (n.3688+3A>G)
c.3769+3A>G (n.3769+3A>G)
n.1344+3A>G
c.3787+3A>G (n.3787+3A>G)
n.4160+3A>G
n.887+3A>G
c.2956+3A>G (n.2956+3A>G)
c.2731+3A>G (n.2731+3A>G)
c.3826+3A>G (n.3826+3A>G)
c.1799+3A>G
c.*1122+3A>G (n.*1122+3A>G)
n.4765+3A>G
n.3366+3A>G
c.3877+3A>G (n.3877+3A>G)
c.3925+3A>G (n.3925+3A>G)
c.3985+3A>G (n.3985+3A>G)
c.3535+3A>G (n.3535+3A>G)
c.1837+3A>G (n.1837+3A>G)
c.1654+3A>G (n.1654+3A>G)
c.3886+3A>G (n.3886+3A>G)
c.3838+3A>G (n.3838+3A>G)
c.3607+3A>G (n.3607+3A>G)
c.3508+3A>G (n.3508+3A>G)
c.2689+3A>G (n.2689+3A>G)
n.4240+3A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937273T=CA2091553290ATP7Bc.*1671+3A= (n.*1671+3A=)
c.*2765+3A= (n.*2765+3A=)
c.3400+3A= (n.3400+3A=)
c.4021+3A= (n.4021+3A=)
c.3688+3A= (n.3688+3A=)
c.3769+3A= (n.3769+3A=)
n.1344+3A=
c.3787+3A= (n.3787+3A=)
n.4160+3A=
n.887+3A=
c.2956+3A= (n.2956+3A=)
c.2731+3A= (n.2731+3A=)
c.3826+3A= (n.3826+3A=)
c.1799+3A=
c.*1122+3A= (n.*1122+3A=)
n.4765+3A=
n.3366+3A=
c.3877+3A= (n.3877+3A=)
c.3925+3A= (n.3925+3A=)
c.3985+3A= (n.3985+3A=)
c.3535+3A= (n.3535+3A=)
c.1837+3A= (n.1837+3A=)
c.1654+3A= (n.1654+3A=)
c.3886+3A= (n.3886+3A=)
c.3838+3A= (n.3838+3A=)
c.3607+3A= (n.3607+3A=)
c.3508+3A= (n.3508+3A=)
c.2689+3A= (n.2689+3A=)
n.4240+3A=
13g.51937273dupCA6988517ATP7Bc.*1671+3dup (n.*1671+3dup)
c.*2765+3dup (n.*2765+3dup)
c.3400+3dup (n.3400+3dup)
c.4021+3dup (n.4021+3dup)
c.3688+3dup (n.3688+3dup)
c.3769+3dup (n.3769+3dup)
n.1344+3dup
c.3787+3dup (n.3787+3dup)
n.4160+3dup
n.887+3dup
c.2956+3dup (n.2956+3dup)
c.2731+3dup (n.2731+3dup)
c.3826+3dup (n.3826+3dup)
c.1799+3dup
c.*1122+3dup (n.*1122+3dup)
n.4765+3dup
n.3366+3dup
c.3877+3dup (n.3877+3dup)
c.3925+3dup (n.3925+3dup)
c.3985+3dup (n.3985+3dup)
c.3535+3dup (n.3535+3dup)
c.1837+3dup (n.1837+3dup)
c.1654+3dup (n.1654+3dup)
c.3886+3dup (n.3886+3dup)
c.3838+3dup (n.3838+3dup)
c.3607+3dup (n.3607+3dup)
c.3508+3dup (n.3508+3dup)
c.2689+3dup (n.2689+3dup)
n.4240+3dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937274A>CCA388020725ATP7Bc.*1671+2T>G (n.*1671+2T>G)
c.*2765+2T>G (n.*2765+2T>G)
c.3400+2T>G (n.3400+2T>G)
c.4021+2T>G (n.4021+2T>G)
c.3688+2T>G (n.3688+2T>G)
c.3769+2T>G (n.3769+2T>G)
n.1344+2T>G
c.3787+2T>G (n.3787+2T>G)
n.4160+2T>G
n.887+2T>G
c.2956+2T>G (n.2956+2T>G)
c.2731+2T>G (n.2731+2T>G)
c.3826+2T>G (n.3826+2T>G)
c.1799+2T>G
c.*1122+2T>G (n.*1122+2T>G)
n.4765+2T>G
n.3366+2T>G
c.3877+2T>G (n.3877+2T>G)
c.3925+2T>G (n.3925+2T>G)
c.3985+2T>G (n.3985+2T>G)
c.3535+2T>G (n.3535+2T>G)
c.1837+2T>G (n.1837+2T>G)
c.1654+2T>G (n.1654+2T>G)
c.3886+2T>G (n.3886+2T>G)
c.3838+2T>G (n.3838+2T>G)
c.3607+2T>G (n.3607+2T>G)
c.3508+2T>G (n.3508+2T>G)
c.2689+2T>G (n.2689+2T>G)
n.4240+2T>G
13g.51937274A>GCA388020732ATP7Bc.*1671+2T>C (n.*1671+2T>C)
c.*2765+2T>C (n.*2765+2T>C)
c.3400+2T>C (n.3400+2T>C)
c.4021+2T>C (n.4021+2T>C)
c.3688+2T>C (n.3688+2T>C)
c.3769+2T>C (n.3769+2T>C)
n.1344+2T>C
c.3787+2T>C (n.3787+2T>C)
n.4160+2T>C
n.887+2T>C
c.2956+2T>C (n.2956+2T>C)
c.2731+2T>C (n.2731+2T>C)
c.3826+2T>C (n.3826+2T>C)
c.1799+2T>C
c.*1122+2T>C (n.*1122+2T>C)
n.4765+2T>C
n.3366+2T>C
c.3877+2T>C (n.3877+2T>C)
c.3925+2T>C (n.3925+2T>C)
c.3985+2T>C (n.3985+2T>C)
c.3535+2T>C (n.3535+2T>C)
c.1837+2T>C (n.1837+2T>C)
c.1654+2T>C (n.1654+2T>C)
c.3886+2T>C (n.3886+2T>C)
c.3838+2T>C (n.3838+2T>C)
c.3607+2T>C (n.3607+2T>C)
c.3508+2T>C (n.3508+2T>C)
c.2689+2T>C (n.2689+2T>C)
n.4240+2T>C
13g.51937274A>TCA388020734ATP7Bc.*1671+2T>A (n.*1671+2T>A)
c.*2765+2T>A (n.*2765+2T>A)
c.3400+2T>A (n.3400+2T>A)
c.4021+2T>A (n.4021+2T>A)
c.3688+2T>A (n.3688+2T>A)
c.3769+2T>A (n.3769+2T>A)
n.1344+2T>A
c.3787+2T>A (n.3787+2T>A)
n.4160+2T>A
n.887+2T>A
c.2956+2T>A (n.2956+2T>A)
c.2731+2T>A (n.2731+2T>A)
c.3826+2T>A (n.3826+2T>A)
c.1799+2T>A
c.*1122+2T>A (n.*1122+2T>A)
n.4765+2T>A
n.3366+2T>A
c.3877+2T>A (n.3877+2T>A)
c.3925+2T>A (n.3925+2T>A)
c.3985+2T>A (n.3985+2T>A)
c.3535+2T>A (n.3535+2T>A)
c.1837+2T>A (n.1837+2T>A)
c.1654+2T>A (n.1654+2T>A)
c.3886+2T>A (n.3886+2T>A)
c.3838+2T>A (n.3838+2T>A)
c.3607+2T>A (n.3607+2T>A)
c.3508+2T>A (n.3508+2T>A)
c.2689+2T>A (n.2689+2T>A)
n.4240+2T>A
13g.51937275C>ACA388020736ATP7Bc.*1671+1G>T (n.*1671+1G>T)
c.*2765+1G>T (n.*2765+1G>T)
c.3400+1G>T (n.3400+1G>T)
c.4021+1G>T (n.4021+1G>T)
c.3688+1G>T (n.3688+1G>T)
c.3769+1G>T (n.3769+1G>T)
n.1344+1G>T
c.3787+1G>T (n.3787+1G>T)
n.4160+1G>T
n.887+1G>T
c.2956+1G>T (n.2956+1G>T)
c.2731+1G>T (n.2731+1G>T)
c.3826+1G>T (n.3826+1G>T)
c.1799+1G>T
c.*1122+1G>T (n.*1122+1G>T)
n.4765+1G>T
n.3366+1G>T
c.3877+1G>T (n.3877+1G>T)
c.3925+1G>T (n.3925+1G>T)
c.3985+1G>T (n.3985+1G>T)
c.3535+1G>T (n.3535+1G>T)
c.1837+1G>T (n.1837+1G>T)
c.1654+1G>T (n.1654+1G>T)
c.3886+1G>T (n.3886+1G>T)
c.3838+1G>T (n.3838+1G>T)
c.3607+1G>T (n.3607+1G>T)
c.3508+1G>T (n.3508+1G>T)
c.2689+1G>T (n.2689+1G>T)
n.4240+1G>T
13g.51937275C>GCA388020738ATP7Bc.*1671+1G>C (n.*1671+1G>C)
c.*2765+1G>C (n.*2765+1G>C)
c.3400+1G>C (n.3400+1G>C)
c.4021+1G>C (n.4021+1G>C)
c.3688+1G>C (n.3688+1G>C)
c.3769+1G>C (n.3769+1G>C)
n.1344+1G>C
c.3787+1G>C (n.3787+1G>C)
n.4160+1G>C
n.887+1G>C
c.2956+1G>C (n.2956+1G>C)
c.2731+1G>C (n.2731+1G>C)
c.3826+1G>C (n.3826+1G>C)
c.1799+1G>C
c.*1122+1G>C (n.*1122+1G>C)
n.4765+1G>C
n.3366+1G>C
c.3877+1G>C (n.3877+1G>C)
c.3925+1G>C (n.3925+1G>C)
c.3985+1G>C (n.3985+1G>C)
c.3535+1G>C (n.3535+1G>C)
c.1837+1G>C (n.1837+1G>C)
c.1654+1G>C (n.1654+1G>C)
c.3886+1G>C (n.3886+1G>C)
c.3838+1G>C (n.3838+1G>C)
c.3607+1G>C (n.3607+1G>C)
c.3508+1G>C (n.3508+1G>C)
c.2689+1G>C (n.2689+1G>C)
n.4240+1G>C
13g.51937275C>TCA388020741ATP7Bc.*1671+1G>A (n.*1671+1G>A)
c.*2765+1G>A (n.*2765+1G>A)
c.3400+1G>A (n.3400+1G>A)
c.4021+1G>A (n.4021+1G>A)
c.3688+1G>A (n.3688+1G>A)
c.3769+1G>A (n.3769+1G>A)
n.1344+1G>A
c.3787+1G>A (n.3787+1G>A)
n.4160+1G>A
n.887+1G>A
c.2956+1G>A (n.2956+1G>A)
c.2731+1G>A (n.2731+1G>A)
c.3826+1G>A (n.3826+1G>A)
c.1799+1G>A
c.*1122+1G>A (n.*1122+1G>A)
n.4765+1G>A
n.3366+1G>A
c.3877+1G>A (n.3877+1G>A)
c.3925+1G>A (n.3925+1G>A)
c.3985+1G>A (n.3985+1G>A)
c.3535+1G>A (n.3535+1G>A)
c.1837+1G>A (n.1837+1G>A)
c.1654+1G>A (n.1654+1G>A)
c.3886+1G>A (n.3886+1G>A)
c.3838+1G>A (n.3838+1G>A)
c.3607+1G>A (n.3607+1G>A)
c.3508+1G>A (n.3508+1G>A)
c.2689+1G>A (n.2689+1G>A)
n.4240+1G>A
 ClinVar
13g.51937276C>ACA388020745ATP7Bc.*1671G>T (n.*1671G>T)
c.*2765G>T (n.*2765G>T)
c.3400G>T (p.Gly1134Cys)
c.4021G>T (p.Gly1341Cys)
c.3688G>T (p.Gly1230Cys)
c.3769G>T (p.Gly1257Cys)
n.1344G>T
c.3787G>T (p.Gly1263Cys)
n.4160G>T
n.887G>T
c.2956G>T (p.Gly986Cys)
c.2731G>T (p.Gly911Cys)
c.3826G>T (p.Gly1276Cys)
c.1799G>T
c.*1122G>T (n.*1122G>T)
n.4765G>T
n.3366G>T
c.3877G>T (p.Gly1293Cys)
c.3925G>T (p.Gly1309Cys)
c.3985G>T (p.Gly1329Cys)
c.3535G>T (p.Gly1179Cys)
c.1837G>T (p.Gly613Cys)
c.1654G>T (p.Gly552Cys)
c.3886G>T (p.Gly1296Cys)
c.3838G>T (p.Gly1280Cys)
c.3607G>T (p.Gly1203Cys)
c.3508G>T (p.Gly1170Cys)
c.2689G>T (p.Gly897Cys)
n.4240G>T
 gnomAD v4
13g.51937276C=CA2091553299ATP7Bc.*1671G= (n.*1671G=)
c.*2765G= (n.*2765G=)
c.3400G= (p.Gly1134=)
c.4021G= (p.Gly1341=)
c.3688G= (p.Gly1230=)
c.3769G= (p.Gly1257=)
n.1344G=
c.3787G= (p.Gly1263=)
n.4160G=
n.887G=
c.2956G= (p.Gly986=)
c.2731G= (p.Gly911=)
c.3826G= (p.Gly1276=)
c.1799G=
c.*1122G= (n.*1122G=)
n.4765G=
n.3366G=
c.3877G= (p.Gly1293=)
c.3925G= (p.Gly1309=)
c.3985G= (p.Gly1329=)
c.3535G= (p.Gly1179=)
c.1837G= (p.Gly613=)
c.1654G= (p.Gly552=)
c.3886G= (p.Gly1296=)
c.3838G= (p.Gly1280=)
c.3607G= (p.Gly1203=)
c.3508G= (p.Gly1170=)
c.2689G= (p.Gly897=)
n.4240G=
13g.51937276C>GCA388020743ATP7Bc.*1671G>C (n.*1671G>C)
c.*2765G>C (n.*2765G>C)
c.3400G>C (p.Gly1134Arg)
c.4021G>C (p.Gly1341Arg)
c.3688G>C (p.Gly1230Arg)
c.3769G>C (p.Gly1257Arg)
n.1344G>C
c.3787G>C (p.Gly1263Arg)
n.4160G>C
n.887G>C
c.2956G>C (p.Gly986Arg)
c.2731G>C (p.Gly911Arg)
c.3826G>C (p.Gly1276Arg)
c.1799G>C
c.*1122G>C (n.*1122G>C)
n.4765G>C
n.3366G>C
c.3877G>C (p.Gly1293Arg)
c.3925G>C (p.Gly1309Arg)
c.3985G>C (p.Gly1329Arg)
c.3535G>C (p.Gly1179Arg)
c.1837G>C (p.Gly613Arg)
c.1654G>C (p.Gly552Arg)
c.3886G>C (p.Gly1296Arg)
c.3838G>C (p.Gly1280Arg)
c.3607G>C (p.Gly1203Arg)
c.3508G>C (p.Gly1170Arg)
c.2689G>C (p.Gly897Arg)
n.4240G>C
13g.51937276C>TCA271177ATP7Bc.*1671G>A (n.*1671G>A)
c.*2765G>A (n.*2765G>A)
c.3400G>A (p.Gly1134Ser)
c.4021G>A (p.Gly1341Ser)
c.3688G>A (p.Gly1230Ser)
c.3769G>A (p.Gly1257Ser)
n.1344G>A
c.3787G>A (p.Gly1263Ser)
n.4160G>A
n.887G>A
c.2956G>A (p.Gly986Ser)
c.2731G>A (p.Gly911Ser)
c.3826G>A (p.Gly1276Ser)
c.1799G>A
c.*1122G>A (n.*1122G>A)
n.4765G>A
n.3366G>A
c.3877G>A (p.Gly1293Ser)
c.3925G>A (p.Gly1309Ser)
c.3985G>A (p.Gly1329Ser)
c.3535G>A (p.Gly1179Ser)
c.1837G>A (p.Gly613Ser)
c.1654G>A (p.Gly552Ser)
c.3886G>A (p.Gly1296Ser)
c.3838G>A (p.Gly1280Ser)
c.3607G>A (p.Gly1203Ser)
c.3508G>A (p.Gly1170Ser)
c.2689G>A (p.Gly897Ser)
n.4240G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51937277T>ACA483893448ATP7Bc.*1670A>T (n.*1670A>T)
c.*2764A>T (n.*2764A>T)
c.3399A>T (p.Ala1133=)
c.4020A>T (p.Ala1340=)
c.3687A>T (p.Ala1229=)
c.3768A>T (p.Ala1256=)
n.1343A>T
c.3786A>T (p.Ala1262=)
n.4159A>T
n.886A>T
c.2955A>T (p.Ala985=)
c.2730A>T (p.Ala910=)
c.3825A>T (p.Ala1275=)
c.1798A>T
c.*1121A>T (n.*1121A>T)
n.4764A>T
n.3365A>T
c.3876A>T (p.Ala1292=)
c.3924A>T (p.Ala1308=)
c.3984A>T (p.Ala1328=)
c.3534A>T (p.Ala1178=)
c.1836A>T (p.Ala612=)
c.1653A>T (p.Ala551=)
c.3885A>T (p.Ala1295=)
c.3837A>T (p.Ala1279=)
c.3606A>T (p.Ala1202=)
c.3507A>T (p.Ala1169=)
c.2688A>T (p.Ala896=)
n.4239A>T
13g.51937277T>CCA483893449ATP7Bc.*1670A>G (n.*1670A>G)
c.*2764A>G (n.*2764A>G)
c.3399A>G (p.Ala1133=)
c.4020A>G (p.Ala1340=)
c.3687A>G (p.Ala1229=)
c.3768A>G (p.Ala1256=)
n.1343A>G
c.3786A>G (p.Ala1262=)
n.4159A>G
n.886A>G
c.2955A>G (p.Ala985=)
c.2730A>G (p.Ala910=)
c.3825A>G (p.Ala1275=)
c.1798A>G
c.*1121A>G (n.*1121A>G)
n.4764A>G
n.3365A>G
c.3876A>G (p.Ala1292=)
c.3924A>G (p.Ala1308=)
c.3984A>G (p.Ala1328=)
c.3534A>G (p.Ala1178=)
c.1836A>G (p.Ala612=)
c.1653A>G (p.Ala551=)
c.3885A>G (p.Ala1295=)
c.3837A>G (p.Ala1279=)
c.3606A>G (p.Ala1202=)
c.3507A>G (p.Ala1169=)
c.2688A>G (p.Ala896=)
n.4239A>G
13g.51937277T>GCA483893450ATP7Bc.*1670A>C (n.*1670A>C)
c.*2764A>C (n.*2764A>C)
c.3399A>C (p.Ala1133=)
c.4020A>C (p.Ala1340=)
c.3687A>C (p.Ala1229=)
c.3768A>C (p.Ala1256=)
n.1343A>C
c.3786A>C (p.Ala1262=)
n.4159A>C
n.886A>C
c.2955A>C (p.Ala985=)
c.2730A>C (p.Ala910=)
c.3825A>C (p.Ala1275=)
c.1798A>C
c.*1121A>C (n.*1121A>C)
n.4764A>C
n.3365A>C
c.3876A>C (p.Ala1292=)
c.3924A>C (p.Ala1308=)
c.3984A>C (p.Ala1328=)
c.3534A>C (p.Ala1178=)
c.1836A>C (p.Ala612=)
c.1653A>C (p.Ala551=)
c.3885A>C (p.Ala1295=)
c.3837A>C (p.Ala1279=)
c.3606A>C (p.Ala1202=)
c.3507A>C (p.Ala1169=)
c.2688A>C (p.Ala896=)
n.4239A>C
13g.51937278G>ACA388020747ATP7Bc.*1669C>T (n.*1669C>T)
c.*2763C>T (n.*2763C>T)
c.3398C>T (p.Ala1133Val)
c.4019C>T (p.Ala1340Val)
c.3686C>T (p.Ala1229Val)
c.3767C>T (p.Ala1256Val)
n.1342C>T
c.3785C>T (p.Ala1262Val)
n.4158C>T
n.885C>T
c.2954C>T (p.Ala985Val)
c.2729C>T (p.Ala910Val)
c.3824C>T (p.Ala1275Val)
c.1797C>T
c.*1120C>T (n.*1120C>T)
n.4763C>T
n.3364C>T
c.3875C>T (p.Ala1292Val)
c.3923C>T (p.Ala1308Val)
c.3983C>T (p.Ala1328Val)
c.3533C>T (p.Ala1178Val)
c.1835C>T (p.Ala612Val)
c.1652C>T (p.Ala551Val)
c.3884C>T (p.Ala1295Val)
c.3836C>T (p.Ala1279Val)
c.3605C>T (p.Ala1202Val)
c.3506C>T (p.Ala1169Val)
c.2687C>T (p.Ala896Val)
n.4238C>T
 gnomAD v4
13g.51937278G>CCA388020750ATP7Bc.*1669C>G (n.*1669C>G)
c.*2763C>G (n.*2763C>G)
c.3398C>G (p.Ala1133Gly)
c.4019C>G (p.Ala1340Gly)
c.3686C>G (p.Ala1229Gly)
c.3767C>G (p.Ala1256Gly)
n.1342C>G
c.3785C>G (p.Ala1262Gly)
n.4158C>G
n.885C>G
c.2954C>G (p.Ala985Gly)
c.2729C>G (p.Ala910Gly)
c.3824C>G (p.Ala1275Gly)
c.1797C>G
c.*1120C>G (n.*1120C>G)
n.4763C>G
n.3364C>G
c.3875C>G (p.Ala1292Gly)
c.3923C>G (p.Ala1308Gly)
c.3983C>G (p.Ala1328Gly)
c.3533C>G (p.Ala1178Gly)
c.1835C>G (p.Ala612Gly)
c.1652C>G (p.Ala551Gly)
c.3884C>G (p.Ala1295Gly)
c.3836C>G (p.Ala1279Gly)
c.3605C>G (p.Ala1202Gly)
c.3506C>G (p.Ala1169Gly)
c.2687C>G (p.Ala896Gly)
n.4238C>G
 gnomAD v4
13g.51937278G>TCA388020753ATP7Bc.*1669C>A (n.*1669C>A)
c.*2763C>A (n.*2763C>A)
c.3398C>A (p.Ala1133Glu)
c.4019C>A (p.Ala1340Glu)
c.3686C>A (p.Ala1229Glu)
c.3767C>A (p.Ala1256Glu)
n.1342C>A
c.3785C>A (p.Ala1262Glu)
n.4158C>A
n.885C>A
c.2954C>A (p.Ala985Glu)
c.2729C>A (p.Ala910Glu)
c.3824C>A (p.Ala1275Glu)
c.1797C>A
c.*1120C>A (n.*1120C>A)
n.4763C>A
n.3364C>A
c.3875C>A (p.Ala1292Glu)
c.3923C>A (p.Ala1308Glu)
c.3983C>A (p.Ala1328Glu)
c.3533C>A (p.Ala1178Glu)
c.1835C>A (p.Ala612Glu)
c.1652C>A (p.Ala551Glu)
c.3884C>A (p.Ala1295Glu)
c.3836C>A (p.Ala1279Glu)
c.3605C>A (p.Ala1202Glu)
c.3506C>A (p.Ala1169Glu)
c.2687C>A (p.Ala896Glu)
n.4238C>A
13g.51937279C>ACA388020756ATP7Bc.*1668G>T (n.*1668G>T)
c.*2762G>T (n.*2762G>T)
c.3397G>T (p.Ala1133Ser)
c.4018G>T (p.Ala1340Ser)
c.3685G>T (p.Ala1229Ser)
c.3766G>T (p.Ala1256Ser)
n.1341G>T
c.3784G>T (p.Ala1262Ser)
n.4157G>T
n.884G>T
c.2953G>T (p.Ala985Ser)
c.2728G>T (p.Ala910Ser)
c.3823G>T (p.Ala1275Ser)
c.1796G>T
c.*1119G>T (n.*1119G>T)
n.4762G>T
n.3363G>T
c.3874G>T (p.Ala1292Ser)
c.3922G>T (p.Ala1308Ser)
c.3982G>T (p.Ala1328Ser)
c.3532G>T (p.Ala1178Ser)
c.1834G>T (p.Ala612Ser)
c.1651G>T (p.Ala551Ser)
c.3883G>T (p.Ala1295Ser)
c.3835G>T (p.Ala1279Ser)
c.3604G>T (p.Ala1202Ser)
c.3505G>T (p.Ala1169Ser)
c.2686G>T (p.Ala896Ser)
n.4237G>T
13g.51937279C>GCA388020758ATP7Bc.*1668G>C (n.*1668G>C)
c.*2762G>C (n.*2762G>C)
c.3397G>C (p.Ala1133Pro)
c.4018G>C (p.Ala1340Pro)
c.3685G>C (p.Ala1229Pro)
c.3766G>C (p.Ala1256Pro)
n.1341G>C
c.3784G>C (p.Ala1262Pro)
n.4157G>C
n.884G>C
c.2953G>C (p.Ala985Pro)
c.2728G>C (p.Ala910Pro)
c.3823G>C (p.Ala1275Pro)
c.1796G>C
c.*1119G>C (n.*1119G>C)
n.4762G>C
n.3363G>C
c.3874G>C (p.Ala1292Pro)
c.3922G>C (p.Ala1308Pro)
c.3982G>C (p.Ala1328Pro)
c.3532G>C (p.Ala1178Pro)
c.1834G>C (p.Ala612Pro)
c.1651G>C (p.Ala551Pro)
c.3883G>C (p.Ala1295Pro)
c.3835G>C (p.Ala1279Pro)
c.3604G>C (p.Ala1202Pro)
c.3505G>C (p.Ala1169Pro)
c.2686G>C (p.Ala896Pro)
n.4237G>C
 gnomAD v4
13g.51937279C>TCA388020761ATP7Bc.*1668G>A (n.*1668G>A)
c.*2762G>A (n.*2762G>A)
c.3397G>A (p.Ala1133Thr)
c.4018G>A (p.Ala1340Thr)
c.3685G>A (p.Ala1229Thr)
c.3766G>A (p.Ala1256Thr)
n.1341G>A
c.3784G>A (p.Ala1262Thr)
n.4157G>A
n.884G>A
c.2953G>A (p.Ala985Thr)
c.2728G>A (p.Ala910Thr)
c.3823G>A (p.Ala1275Thr)
c.1796G>A
c.*1119G>A (n.*1119G>A)
n.4762G>A
n.3363G>A
c.3874G>A (p.Ala1292Thr)
c.3922G>A (p.Ala1308Thr)
c.3982G>A (p.Ala1328Thr)
c.3532G>A (p.Ala1178Thr)
c.1834G>A (p.Ala612Thr)
c.1651G>A (p.Ala551Thr)
c.3883G>A (p.Ala1295Thr)
c.3835G>A (p.Ala1279Thr)
c.3604G>A (p.Ala1202Thr)
c.3505G>A (p.Ala1169Thr)
c.2686G>A (p.Ala896Thr)
n.4237G>A
 gnomAD v4
13g.51937280T>ACA483893451ATP7Bc.*1667A>T (n.*1667A>T)
c.*2761A>T (n.*2761A>T)
c.3396A>T (p.Ala1132=)
c.4017A>T (p.Ala1339=)
c.3684A>T (p.Ala1228=)
c.3765A>T (p.Ala1255=)
n.1340A>T
c.3783A>T (p.Ala1261=)
n.4156A>T
n.883A>T
c.2952A>T (p.Ala984=)
c.2727A>T (p.Ala909=)
c.3822A>T (p.Ala1274=)
c.1795A>T
c.*1118A>T (n.*1118A>T)
n.4761A>T
n.3362A>T
c.3873A>T (p.Ala1291=)
c.3921A>T (p.Ala1307=)
c.3981A>T (p.Ala1327=)
c.3531A>T (p.Ala1177=)
c.1833A>T (p.Ala611=)
c.1650A>T (p.Ala550=)
c.3882A>T (p.Ala1294=)
c.3834A>T (p.Ala1278=)
c.3603A>T (p.Ala1201=)
c.3504A>T (p.Ala1168=)
c.2685A>T (p.Ala895=)
n.4236A>T
13g.51937280T>CCA483893452ATP7Bc.*1667A>G (n.*1667A>G)
c.*2761A>G (n.*2761A>G)
c.3396A>G (p.Ala1132=)
c.4017A>G (p.Ala1339=)
c.3684A>G (p.Ala1228=)
c.3765A>G (p.Ala1255=)
n.1340A>G
c.3783A>G (p.Ala1261=)
n.4156A>G
n.883A>G
c.2952A>G (p.Ala984=)
c.2727A>G (p.Ala909=)
c.3822A>G (p.Ala1274=)
c.1795A>G
c.*1118A>G (n.*1118A>G)
n.4761A>G
n.3362A>G
c.3873A>G (p.Ala1291=)
c.3921A>G (p.Ala1307=)
c.3981A>G (p.Ala1327=)
c.3531A>G (p.Ala1177=)
c.1833A>G (p.Ala611=)
c.1650A>G (p.Ala550=)
c.3882A>G (p.Ala1294=)
c.3834A>G (p.Ala1278=)
c.3603A>G (p.Ala1201=)
c.3504A>G (p.Ala1168=)
c.2685A>G (p.Ala895=)
n.4236A>G
13g.51937280T>GCA483893453ATP7Bc.*1667A>C (n.*1667A>C)
c.*2761A>C (n.*2761A>C)
c.3396A>C (p.Ala1132=)
c.4017A>C (p.Ala1339=)
c.3684A>C (p.Ala1228=)
c.3765A>C (p.Ala1255=)
n.1340A>C
c.3783A>C (p.Ala1261=)
n.4156A>C
n.883A>C
c.2952A>C (p.Ala984=)
c.2727A>C (p.Ala909=)
c.3822A>C (p.Ala1274=)
c.1795A>C
c.*1118A>C (n.*1118A>C)
n.4761A>C
n.3362A>C
c.3873A>C (p.Ala1291=)
c.3921A>C (p.Ala1307=)
c.3981A>C (p.Ala1327=)
c.3531A>C (p.Ala1177=)
c.1833A>C (p.Ala611=)
c.1650A>C (p.Ala550=)
c.3882A>C (p.Ala1294=)
c.3834A>C (p.Ala1278=)
c.3603A>C (p.Ala1201=)
c.3504A>C (p.Ala1168=)
c.2685A>C (p.Ala895=)
n.4236A>C
13g.51937281G>ACA388020763ATP7Bc.*1666C>T (n.*1666C>T)
c.*2760C>T (n.*2760C>T)
c.3395C>T (p.Ala1132Val)
c.4016C>T (p.Ala1339Val)
c.3683C>T (p.Ala1228Val)
c.3764C>T (p.Ala1255Val)
n.1339C>T
c.3782C>T (p.Ala1261Val)
n.4155C>T
n.882C>T
c.2951C>T (p.Ala984Val)
c.2726C>T (p.Ala909Val)
c.3821C>T (p.Ala1274Val)
c.1794C>T
c.*1117C>T (n.*1117C>T)
n.4760C>T
n.3361C>T
c.3872C>T (p.Ala1291Val)
c.3920C>T (p.Ala1307Val)
c.3980C>T (p.Ala1327Val)
c.3530C>T (p.Ala1177Val)
c.1832C>T (p.Ala611Val)
c.1649C>T (p.Ala550Val)
c.3881C>T (p.Ala1294Val)
c.3833C>T (p.Ala1278Val)
c.3602C>T (p.Ala1201Val)
c.3503C>T (p.Ala1168Val)
c.2684C>T (p.Ala895Val)
n.4235C>T
 ClinVar
13g.51937281G>CCA388020765ATP7Bc.*1666C>G (n.*1666C>G)
c.*2760C>G (n.*2760C>G)
c.3395C>G (p.Ala1132Gly)
c.4016C>G (p.Ala1339Gly)
c.3683C>G (p.Ala1228Gly)
c.3764C>G (p.Ala1255Gly)
n.1339C>G
c.3782C>G (p.Ala1261Gly)
n.4155C>G
n.882C>G
c.2951C>G (p.Ala984Gly)
c.2726C>G (p.Ala909Gly)
c.3821C>G (p.Ala1274Gly)
c.1794C>G
c.*1117C>G (n.*1117C>G)
n.4760C>G
n.3361C>G
c.3872C>G (p.Ala1291Gly)
c.3920C>G (p.Ala1307Gly)
c.3980C>G (p.Ala1327Gly)
c.3530C>G (p.Ala1177Gly)
c.1832C>G (p.Ala611Gly)
c.1649C>G (p.Ala550Gly)
c.3881C>G (p.Ala1294Gly)
c.3833C>G (p.Ala1278Gly)
c.3602C>G (p.Ala1201Gly)
c.3503C>G (p.Ala1168Gly)
c.2684C>G (p.Ala895Gly)
n.4235C>G
13g.51937281G>TCA388020767ATP7Bc.*1666C>A (n.*1666C>A)
c.*2760C>A (n.*2760C>A)
c.3395C>A (p.Ala1132Glu)
c.4016C>A (p.Ala1339Glu)
c.3683C>A (p.Ala1228Glu)
c.3764C>A (p.Ala1255Glu)
n.1339C>A
c.3782C>A (p.Ala1261Glu)
n.4155C>A
n.882C>A
c.2951C>A (p.Ala984Glu)
c.2726C>A (p.Ala909Glu)
c.3821C>A (p.Ala1274Glu)
c.1794C>A
c.*1117C>A (n.*1117C>A)
n.4760C>A
n.3361C>A
c.3872C>A (p.Ala1291Glu)
c.3920C>A (p.Ala1307Glu)
c.3980C>A (p.Ala1327Glu)
c.3530C>A (p.Ala1177Glu)
c.1832C>A (p.Ala611Glu)
c.1649C>A (p.Ala550Glu)
c.3881C>A (p.Ala1294Glu)
c.3833C>A (p.Ala1278Glu)
c.3602C>A (p.Ala1201Glu)
c.3503C>A (p.Ala1168Glu)
c.2684C>A (p.Ala895Glu)
n.4235C>A
13g.51937282C>ACA388020770ATP7Bc.*1665G>T (n.*1665G>T)
c.*2759G>T (n.*2759G>T)
c.3394G>T (p.Ala1132Ser)
c.4015G>T (p.Ala1339Ser)
c.3682G>T (p.Ala1228Ser)
c.3763G>T (p.Ala1255Ser)
n.1338G>T
c.3781G>T (p.Ala1261Ser)
n.4154G>T
n.881G>T
c.2950G>T (p.Ala984Ser)
c.2725G>T (p.Ala909Ser)
c.3820G>T (p.Ala1274Ser)
c.1793G>T
c.*1116G>T (n.*1116G>T)
n.4759G>T
n.3360G>T
c.3871G>T (p.Ala1291Ser)
c.3919G>T (p.Ala1307Ser)
c.3979G>T (p.Ala1327Ser)
c.3529G>T (p.Ala1177Ser)
c.1831G>T (p.Ala611Ser)
c.1648G>T (p.Ala550Ser)
c.3880G>T (p.Ala1294Ser)
c.3832G>T (p.Ala1278Ser)
c.3601G>T (p.Ala1201Ser)
c.3502G>T (p.Ala1168Ser)
c.2683G>T (p.Ala895Ser)
n.4234G>T
13g.51937282C>GCA388020774ATP7Bc.*1665G>C (n.*1665G>C)
c.*2759G>C (n.*2759G>C)
c.3394G>C (p.Ala1132Pro)
c.4015G>C (p.Ala1339Pro)
c.3682G>C (p.Ala1228Pro)
c.3763G>C (p.Ala1255Pro)
n.1338G>C
c.3781G>C (p.Ala1261Pro)
n.4154G>C
n.881G>C
c.2950G>C (p.Ala984Pro)
c.2725G>C (p.Ala909Pro)
c.3820G>C (p.Ala1274Pro)
c.1793G>C
c.*1116G>C (n.*1116G>C)
n.4759G>C
n.3360G>C
c.3871G>C (p.Ala1291Pro)
c.3919G>C (p.Ala1307Pro)
c.3979G>C (p.Ala1327Pro)
c.3529G>C (p.Ala1177Pro)
c.1831G>C (p.Ala611Pro)
c.1648G>C (p.Ala550Pro)
c.3880G>C (p.Ala1294Pro)
c.3832G>C (p.Ala1278Pro)
c.3601G>C (p.Ala1201Pro)
c.3502G>C (p.Ala1168Pro)
c.2683G>C (p.Ala895Pro)
n.4234G>C
13g.51937282C>TCA388020777ATP7Bc.*1665G>A (n.*1665G>A)
c.*2759G>A (n.*2759G>A)
c.3394G>A (p.Ala1132Thr)
c.4015G>A (p.Ala1339Thr)
c.3682G>A (p.Ala1228Thr)
c.3763G>A (p.Ala1255Thr)
n.1338G>A
c.3781G>A (p.Ala1261Thr)
n.4154G>A
n.881G>A
c.2950G>A (p.Ala984Thr)
c.2725G>A (p.Ala909Thr)
c.3820G>A (p.Ala1274Thr)
c.1793G>A
c.*1116G>A (n.*1116G>A)
n.4759G>A
n.3360G>A
c.3871G>A (p.Ala1291Thr)
c.3919G>A (p.Ala1307Thr)
c.3979G>A (p.Ala1327Thr)
c.3529G>A (p.Ala1177Thr)
c.1831G>A (p.Ala611Thr)
c.1648G>A (p.Ala550Thr)
c.3880G>A (p.Ala1294Thr)
c.3832G>A (p.Ala1278Thr)
c.3601G>A (p.Ala1201Thr)
c.3502G>A (p.Ala1168Thr)
c.2683G>A (p.Ala895Thr)
n.4234G>A
13g.51937283A=CA2091553304ATP7Bc.*1664T= (n.*1664T=)
c.*2758T= (n.*2758T=)
c.3393T= (p.Ile1131=)
c.4014T= (p.Ile1338=)
c.3681T= (p.Ile1227=)
c.3762T= (p.Ile1254=)
n.1337T=
c.3780T= (p.Ile1260=)
n.4153T=
n.880T=
c.2949T= (p.Ile983=)
c.2724T= (p.Ile908=)
c.3819T= (p.Ile1273=)
c.1792T=
c.*1115T= (n.*1115T=)
n.4758T=
n.3359T=
c.3870T= (p.Ile1290=)
c.3918T= (p.Ile1306=)
c.3978T= (p.Ile1326=)
c.3528T= (p.Ile1176=)
c.1830T= (p.Ile610=)
c.1647T= (p.Ile549=)
c.3879T= (p.Ile1293=)
c.3831T= (p.Ile1277=)
c.3600T= (p.Ile1200=)
c.3501T= (p.Ile1167=)
c.2682T= (p.Ile894=)
n.4233T=
13g.51937283A>CCA388020780ATP7Bc.*1664T>G (n.*1664T>G)
c.*2758T>G (n.*2758T>G)
c.3393T>G (p.Ile1131Met)
c.4014T>G (p.Ile1338Met)
c.3681T>G (p.Ile1227Met)
c.3762T>G (p.Ile1254Met)
n.1337T>G
c.3780T>G (p.Ile1260Met)
n.4153T>G
n.880T>G
c.2949T>G (p.Ile983Met)
c.2724T>G (p.Ile908Met)
c.3819T>G (p.Ile1273Met)
c.1792T>G
c.*1115T>G (n.*1115T>G)
n.4758T>G
n.3359T>G
c.3870T>G (p.Ile1290Met)
c.3918T>G (p.Ile1306Met)
c.3978T>G (p.Ile1326Met)
c.3528T>G (p.Ile1176Met)
c.1830T>G (p.Ile610Met)
c.1647T>G (p.Ile549Met)
c.3879T>G (p.Ile1293Met)
c.3831T>G (p.Ile1277Met)
c.3600T>G (p.Ile1200Met)
c.3501T>G (p.Ile1167Met)
c.2682T>G (p.Ile894Met)
n.4233T>G
13g.51937283A>GCA6988519ATP7Bc.*1664T>C (n.*1664T>C)
c.*2758T>C (n.*2758T>C)
c.3393T>C (p.Ile1131=)
c.4014T>C (p.Ile1338=)
c.3681T>C (p.Ile1227=)
c.3762T>C (p.Ile1254=)
n.1337T>C
c.3780T>C (p.Ile1260=)
n.4153T>C
n.880T>C
c.2949T>C (p.Ile983=)
c.2724T>C (p.Ile908=)
c.3819T>C (p.Ile1273=)
c.1792T>C
c.*1115T>C (n.*1115T>C)
n.4758T>C
n.3359T>C
c.3870T>C (p.Ile1290=)
c.3918T>C (p.Ile1306=)
c.3978T>C (p.Ile1326=)
c.3528T>C (p.Ile1176=)
c.1830T>C (p.Ile610=)
c.1647T>C (p.Ile549=)
c.3879T>C (p.Ile1293=)
c.3831T>C (p.Ile1277=)
c.3600T>C (p.Ile1200=)
c.3501T>C (p.Ile1167=)
c.2682T>C (p.Ile894=)
n.4233T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51937283A>TCA483893454ATP7Bc.*1664T>A (n.*1664T>A)
c.*2758T>A (n.*2758T>A)
c.3393T>A (p.Ile1131=)
c.4014T>A (p.Ile1338=)
c.3681T>A (p.Ile1227=)
c.3762T>A (p.Ile1254=)
n.1337T>A
c.3780T>A (p.Ile1260=)
n.4153T>A
n.880T>A
c.2949T>A (p.Ile983=)
c.2724T>A (p.Ile908=)
c.3819T>A (p.Ile1273=)
c.1792T>A
c.*1115T>A (n.*1115T>A)
n.4758T>A
n.3359T>A
c.3870T>A (p.Ile1290=)
c.3918T>A (p.Ile1306=)
c.3978T>A (p.Ile1326=)
c.3528T>A (p.Ile1176=)
c.1830T>A (p.Ile610=)
c.1647T>A (p.Ile549=)
c.3879T>A (p.Ile1293=)
c.3831T>A (p.Ile1277=)
c.3600T>A (p.Ile1200=)
c.3501T>A (p.Ile1167=)
c.2682T>A (p.Ile894=)
n.4233T>A
 ClinVar dbSNP gnomAD v4
13g.51937284A>CCA388020786ATP7Bc.*1663T>G (n.*1663T>G)
c.*2757T>G (n.*2757T>G)
c.3392T>G (p.Ile1131Ser)
c.4013T>G (p.Ile1338Ser)
c.3680T>G (p.Ile1227Ser)
c.3761T>G (p.Ile1254Ser)
n.1336T>G
c.3779T>G (p.Ile1260Ser)
n.4152T>G
n.879T>G
c.2948T>G (p.Ile983Ser)
c.2723T>G (p.Ile908Ser)
c.3818T>G (p.Ile1273Ser)
c.1791T>G
c.*1114T>G (n.*1114T>G)
n.4757T>G
n.3358T>G
c.3869T>G (p.Ile1290Ser)
c.3917T>G (p.Ile1306Ser)
c.3977T>G (p.Ile1326Ser)
c.3527T>G (p.Ile1176Ser)
c.1829T>G (p.Ile610Ser)
c.1646T>G (p.Ile549Ser)
c.3878T>G (p.Ile1293Ser)
c.3830T>G (p.Ile1277Ser)
c.3599T>G (p.Ile1200Ser)
c.3500T>G (p.Ile1167Ser)
c.2681T>G (p.Ile894Ser)
n.4232T>G
13g.51937284A>GCA388020789ATP7Bc.*1663T>C (n.*1663T>C)
c.*2757T>C (n.*2757T>C)
c.3392T>C (p.Ile1131Thr)
c.4013T>C (p.Ile1338Thr)
c.3680T>C (p.Ile1227Thr)
c.3761T>C (p.Ile1254Thr)
n.1336T>C
c.3779T>C (p.Ile1260Thr)
n.4152T>C
n.879T>C
c.2948T>C (p.Ile983Thr)
c.2723T>C (p.Ile908Thr)
c.3818T>C (p.Ile1273Thr)
c.1791T>C
c.*1114T>C (n.*1114T>C)
n.4757T>C
n.3358T>C
c.3869T>C (p.Ile1290Thr)
c.3917T>C (p.Ile1306Thr)
c.3977T>C (p.Ile1326Thr)
c.3527T>C (p.Ile1176Thr)
c.1829T>C (p.Ile610Thr)
c.1646T>C (p.Ile549Thr)
c.3878T>C (p.Ile1293Thr)
c.3830T>C (p.Ile1277Thr)
c.3599T>C (p.Ile1200Thr)
c.3500T>C (p.Ile1167Thr)
c.2681T>C (p.Ile894Thr)
n.4232T>C
13g.51937284A>TCA388020791ATP7Bc.*1663T>A (n.*1663T>A)
c.*2757T>A (n.*2757T>A)
c.3392T>A (p.Ile1131Asn)
c.4013T>A (p.Ile1338Asn)
c.3680T>A (p.Ile1227Asn)
c.3761T>A (p.Ile1254Asn)
n.1336T>A
c.3779T>A (p.Ile1260Asn)
n.4152T>A
n.879T>A
c.2948T>A (p.Ile983Asn)
c.2723T>A (p.Ile908Asn)
c.3818T>A (p.Ile1273Asn)
c.1791T>A
c.*1114T>A (n.*1114T>A)
n.4757T>A
n.3358T>A
c.3869T>A (p.Ile1290Asn)
c.3917T>A (p.Ile1306Asn)
c.3977T>A (p.Ile1326Asn)
c.3527T>A (p.Ile1176Asn)
c.1829T>A (p.Ile610Asn)
c.1646T>A (p.Ile549Asn)
c.3878T>A (p.Ile1293Asn)
c.3830T>A (p.Ile1277Asn)
c.3599T>A (p.Ile1200Asn)
c.3500T>A (p.Ile1167Asn)
c.2681T>A (p.Ile894Asn)
n.4232T>A
13g.51937285T>ACA388020793ATP7Bc.*1662A>T (n.*1662A>T)
c.*2756A>T (n.*2756A>T)
c.3391A>T (p.Ile1131Phe)
c.4012A>T (p.Ile1338Phe)
c.3679A>T (p.Ile1227Phe)
c.3760A>T (p.Ile1254Phe)
n.1335A>T
c.3778A>T (p.Ile1260Phe)
n.4151A>T
n.878A>T
c.2947A>T (p.Ile983Phe)
c.2722A>T (p.Ile908Phe)
c.3817A>T (p.Ile1273Phe)
c.1790A>T
c.*1113A>T (n.*1113A>T)
n.4756A>T
n.3357A>T
c.3868A>T (p.Ile1290Phe)
c.3916A>T (p.Ile1306Phe)
c.3976A>T (p.Ile1326Phe)
c.3526A>T (p.Ile1176Phe)
c.1828A>T (p.Ile610Phe)
c.1645A>T (p.Ile549Phe)
c.3877A>T (p.Ile1293Phe)
c.3829A>T (p.Ile1277Phe)
c.3598A>T (p.Ile1200Phe)
c.3499A>T (p.Ile1167Phe)
c.2680A>T (p.Ile894Phe)
n.4231A>T
13g.51937285T>CCA6988520ATP7Bc.*1662A>G (n.*1662A>G)
c.*2756A>G (n.*2756A>G)
c.3391A>G (p.Ile1131Val)
c.4012A>G (p.Ile1338Val)
c.3679A>G (p.Ile1227Val)
c.3760A>G (p.Ile1254Val)
n.1335A>G
c.3778A>G (p.Ile1260Val)
n.4151A>G
n.878A>G
c.2947A>G (p.Ile983Val)
c.2722A>G (p.Ile908Val)
c.3817A>G (p.Ile1273Val)
c.1790A>G
c.*1113A>G (n.*1113A>G)
n.4756A>G
n.3357A>G
c.3868A>G (p.Ile1290Val)
c.3916A>G (p.Ile1306Val)
c.3976A>G (p.Ile1326Val)
c.3526A>G (p.Ile1176Val)
c.1828A>G (p.Ile610Val)
c.1645A>G (p.Ile549Val)
c.3877A>G (p.Ile1293Val)
c.3829A>G (p.Ile1277Val)
c.3598A>G (p.Ile1200Val)
c.3499A>G (p.Ile1167Val)
c.2680A>G (p.Ile894Val)
n.4231A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937285T>GCA388020797ATP7Bc.*1662A>C (n.*1662A>C)
c.*2756A>C (n.*2756A>C)
c.3391A>C (p.Ile1131Leu)
c.4012A>C (p.Ile1338Leu)
c.3679A>C (p.Ile1227Leu)
c.3760A>C (p.Ile1254Leu)
n.1335A>C
c.3778A>C (p.Ile1260Leu)
n.4151A>C
n.878A>C
c.2947A>C (p.Ile983Leu)
c.2722A>C (p.Ile908Leu)
c.3817A>C (p.Ile1273Leu)
c.1790A>C
c.*1113A>C (n.*1113A>C)
n.4756A>C
n.3357A>C
c.3868A>C (p.Ile1290Leu)
c.3916A>C (p.Ile1306Leu)
c.3976A>C (p.Ile1326Leu)
c.3526A>C (p.Ile1176Leu)
c.1828A>C (p.Ile610Leu)
c.1645A>C (p.Ile549Leu)
c.3877A>C (p.Ile1293Leu)
c.3829A>C (p.Ile1277Leu)
c.3598A>C (p.Ile1200Leu)
c.3499A>C (p.Ile1167Leu)
c.2680A>C (p.Ile894Leu)
n.4231A>C
13g.51937285T=CA2091553310ATP7Bc.*1662A= (n.*1662A=)
c.*2756A= (n.*2756A=)
c.3391A= (p.Ile1131=)
c.4012A= (p.Ile1338=)
c.3679A= (p.Ile1227=)
c.3760A= (p.Ile1254=)
n.1335A=
c.3778A= (p.Ile1260=)
n.4151A=
n.878A=
c.2947A= (p.Ile983=)
c.2722A= (p.Ile908=)
c.3817A= (p.Ile1273=)
c.1790A=
c.*1113A= (n.*1113A=)
n.4756A=
n.3357A=
c.3868A= (p.Ile1290=)
c.3916A= (p.Ile1306=)
c.3976A= (p.Ile1326=)
c.3526A= (p.Ile1176=)
c.1828A= (p.Ile610=)
c.1645A= (p.Ile549=)
c.3877A= (p.Ile1293=)
c.3829A= (p.Ile1277=)
c.3598A= (p.Ile1200=)
c.3499A= (p.Ile1167=)
c.2680A= (p.Ile894=)
n.4231A=
13g.51937286G>ACA483893458ATP7Bc.*1661C>T (n.*1661C>T)
c.*2755C>T (n.*2755C>T)
c.3390C>T (p.Pro1130=)
c.4011C>T (p.Pro1337=)
c.3678C>T (p.Pro1226=)
c.3759C>T (p.Pro1253=)
n.1334C>T
c.3777C>T (p.Pro1259=)
n.4150C>T
n.877C>T
c.2946C>T (p.Pro982=)
c.2721C>T (p.Pro907=)
c.3816C>T (p.Pro1272=)
c.1789C>T
c.*1112C>T (n.*1112C>T)
n.4755C>T
n.3356C>T
c.3867C>T (p.Pro1289=)
c.3915C>T (p.Pro1305=)
c.3975C>T (p.Pro1325=)
c.3525C>T (p.Pro1175=)
c.1827C>T (p.Pro609=)
c.1644C>T (p.Pro548=)
c.3876C>T (p.Pro1292=)
c.3828C>T (p.Pro1276=)
c.3597C>T (p.Pro1199=)
c.3498C>T (p.Pro1166=)
c.2679C>T (p.Pro893=)
n.4230C>T
 ClinVar dbSNP gnomAD v4
13g.51937286G>CCA483893456ATP7Bc.*1661C>G (n.*1661C>G)
c.*2755C>G (n.*2755C>G)
c.3390C>G (p.Pro1130=)
c.4011C>G (p.Pro1337=)
c.3678C>G (p.Pro1226=)
c.3759C>G (p.Pro1253=)
n.1334C>G
c.3777C>G (p.Pro1259=)
n.4150C>G
n.877C>G
c.2946C>G (p.Pro982=)
c.2721C>G (p.Pro907=)
c.3816C>G (p.Pro1272=)
c.1789C>G
c.*1112C>G (n.*1112C>G)
n.4755C>G
n.3356C>G
c.3867C>G (p.Pro1289=)
c.3915C>G (p.Pro1305=)
c.3975C>G (p.Pro1325=)
c.3525C>G (p.Pro1175=)
c.1827C>G (p.Pro609=)
c.1644C>G (p.Pro548=)
c.3876C>G (p.Pro1292=)
c.3828C>G (p.Pro1276=)
c.3597C>G (p.Pro1199=)
c.3498C>G (p.Pro1166=)
c.2679C>G (p.Pro893=)
n.4230C>G
 dbSNP
13g.51937286G=CA2091553312ATP7Bc.*1661C= (n.*1661C=)
c.*2755C= (n.*2755C=)
c.3390C= (p.Pro1130=)
c.4011C= (p.Pro1337=)
c.3678C= (p.Pro1226=)
c.3759C= (p.Pro1253=)
n.1334C=
c.3777C= (p.Pro1259=)
n.4150C=
n.877C=
c.2946C= (p.Pro982=)
c.2721C= (p.Pro907=)
c.3816C= (p.Pro1272=)
c.1789C=
c.*1112C= (n.*1112C=)
n.4755C=
n.3356C=
c.3867C= (p.Pro1289=)
c.3915C= (p.Pro1305=)
c.3975C= (p.Pro1325=)
c.3525C= (p.Pro1175=)
c.1827C= (p.Pro609=)
c.1644C= (p.Pro548=)
c.3876C= (p.Pro1292=)
c.3828C= (p.Pro1276=)
c.3597C= (p.Pro1199=)
c.3498C= (p.Pro1166=)
c.2679C= (p.Pro893=)
n.4230C=
13g.51937286G>TCA483893455ATP7Bc.*1661C>A (n.*1661C>A)
c.*2755C>A (n.*2755C>A)
c.3390C>A (p.Pro1130=)
c.4011C>A (p.Pro1337=)
c.3678C>A (p.Pro1226=)
c.3759C>A (p.Pro1253=)
n.1334C>A
c.3777C>A (p.Pro1259=)
n.4150C>A
n.877C>A
c.2946C>A (p.Pro982=)
c.2721C>A (p.Pro907=)
c.3816C>A (p.Pro1272=)
c.1789C>A
c.*1112C>A (n.*1112C>A)
n.4755C>A
n.3356C>A
c.3867C>A (p.Pro1289=)
c.3915C>A (p.Pro1305=)
c.3975C>A (p.Pro1325=)
c.3525C>A (p.Pro1175=)
c.1827C>A (p.Pro609=)
c.1644C>A (p.Pro548=)
c.3876C>A (p.Pro1292=)
c.3828C>A (p.Pro1276=)
c.3597C>A (p.Pro1199=)
c.3498C>A (p.Pro1166=)
c.2679C>A (p.Pro893=)
n.4230C>A
 ClinVar dbSNP
13g.51937288dupCA2623119054ATP7Bc.*1661dup (n.*1661dup)
c.*2755dup (n.*2755dup)
c.3390dup (p.Ile1131HisfsTer?)
c.4011dup (p.Ile1338HisfsTer?)
c.3678dup (p.Ile1227HisfsTer?)
c.3759dup (p.Ile1254HisfsTer?)
n.1334dup
c.3777dup (p.Ile1260HisfsTer?)
n.4150dup
n.877dup
c.2946dup (p.Ile983HisfsTer?)
c.2721dup (p.Ile908HisfsTer?)
c.3816dup (p.Ile1273HisfsTer?)
c.1789dup
c.*1112dup (n.*1112dup)
n.4755dup
n.3356dup
c.3867dup (p.Ile1290HisfsTer?)
c.3915dup (p.Ile1306HisfsTer?)
c.3975dup (p.Ile1326HisfsTer?)
c.3525dup (p.Ile1176HisfsTer?)
c.1827dup (p.Ile610HisfsTer?)
c.1644dup (p.Ile549HisfsTer?)
c.3876dup (p.Ile1293HisfsTer?)
c.3828dup (p.Ile1277HisfsTer?)
c.3597dup (p.Ile1200HisfsTer?)
c.3498dup (p.Ile1167HisfsTer?)
c.2679dup (p.Ile894HisfsTer?)
n.4230dup
 ClinVar gnomAD v4
13g.51937288delCA2580087695ATP7Bc.*1661del (n.*1661del)
c.*2755del (n.*2755del)
c.3390del (p.Ile1131LeufsTer?)
c.4011del (p.Ile1338LeufsTer?)
c.3678del (p.Ile1227LeufsTer?)
c.3759del (p.Ile1254LeufsTer?)
n.1334del
c.3777del (p.Ile1260LeufsTer?)
n.4150del
n.877del
c.2946del (p.Ile983LeufsTer?)
c.2721del (p.Ile908LeufsTer?)
c.3816del (p.Ile1273LeufsTer?)
c.1789del
c.*1112del (n.*1112del)
n.4755del
n.3356del
c.3867del (p.Ile1290LeufsTer?)
c.3915del (p.Ile1306LeufsTer?)
c.3975del (p.Ile1326LeufsTer?)
c.3525del (p.Ile1176LeufsTer?)
c.1827del (p.Ile610LeufsTer?)
c.1644del (p.Ile549LeufsTer?)
c.3876del (p.Ile1293LeufsTer?)
c.3828del (p.Ile1277LeufsTer?)
c.3597del (p.Ile1200LeufsTer?)
c.3498del (p.Ile1167LeufsTer?)
c.2679del (p.Ile894LeufsTer?)
n.4230del
 ClinVar
13g.51937287G>ACA388020800ATP7Bc.*1660C>T (n.*1660C>T)
c.*2754C>T (n.*2754C>T)
c.3389C>T (p.Pro1130Leu)
c.4010C>T (p.Pro1337Leu)
c.3677C>T (p.Pro1226Leu)
c.3758C>T (p.Pro1253Leu)
n.1333C>T
c.3776C>T (p.Pro1259Leu)
n.4149C>T
n.876C>T
c.2945C>T (p.Pro982Leu)
c.2720C>T (p.Pro907Leu)
c.3815C>T (p.Pro1272Leu)
c.1788C>T
c.*1111C>T (n.*1111C>T)
n.4754C>T
n.3355C>T
c.3866C>T (p.Pro1289Leu)
c.3914C>T (p.Pro1305Leu)
c.3974C>T (p.Pro1325Leu)
c.3524C>T (p.Pro1175Leu)
c.1826C>T (p.Pro609Leu)
c.1643C>T (p.Pro548Leu)
c.3875C>T (p.Pro1292Leu)
c.3827C>T (p.Pro1276Leu)
c.3596C>T (p.Pro1199Leu)
c.3497C>T (p.Pro1166Leu)
c.2678C>T (p.Pro893Leu)
n.4229C>T
 dbSNP
13g.51937287G>CCA388020801ATP7Bc.*1660C>G (n.*1660C>G)
c.*2754C>G (n.*2754C>G)
c.3389C>G (p.Pro1130Arg)
c.4010C>G (p.Pro1337Arg)
c.3677C>G (p.Pro1226Arg)
c.3758C>G (p.Pro1253Arg)
n.1333C>G
c.3776C>G (p.Pro1259Arg)
n.4149C>G
n.876C>G
c.2945C>G (p.Pro982Arg)
c.2720C>G (p.Pro907Arg)
c.3815C>G (p.Pro1272Arg)
c.1788C>G
c.*1111C>G (n.*1111C>G)
n.4754C>G
n.3355C>G
c.3866C>G (p.Pro1289Arg)
c.3914C>G (p.Pro1305Arg)
c.3974C>G (p.Pro1325Arg)
c.3524C>G (p.Pro1175Arg)
c.1826C>G (p.Pro609Arg)
c.1643C>G (p.Pro548Arg)
c.3875C>G (p.Pro1292Arg)
c.3827C>G (p.Pro1276Arg)
c.3596C>G (p.Pro1199Arg)
c.3497C>G (p.Pro1166Arg)
c.2678C>G (p.Pro893Arg)
n.4229C>G
13g.51937287G=CA2091553315ATP7Bc.*1660C= (n.*1660C=)
c.*2754C= (n.*2754C=)
c.3389C= (p.Pro1130=)
c.4010C= (p.Pro1337=)
c.3677C= (p.Pro1226=)
c.3758C= (p.Pro1253=)
n.1333C=
c.3776C= (p.Pro1259=)
n.4149C=
n.876C=
c.2945C= (p.Pro982=)
c.2720C= (p.Pro907=)
c.3815C= (p.Pro1272=)
c.1788C=
c.*1111C= (n.*1111C=)
n.4754C=
n.3355C=
c.3866C= (p.Pro1289=)
c.3914C= (p.Pro1305=)
c.3974C= (p.Pro1325=)
c.3524C= (p.Pro1175=)
c.1826C= (p.Pro609=)
c.1643C= (p.Pro548=)
c.3875C= (p.Pro1292=)
c.3827C= (p.Pro1276=)
c.3596C= (p.Pro1199=)
c.3497C= (p.Pro1166=)
c.2678C= (p.Pro893=)
n.4229C=
13g.51937287G>TCA388020802ATP7Bc.*1660C>A (n.*1660C>A)
c.*2754C>A (n.*2754C>A)
c.3389C>A (p.Pro1130His)
c.4010C>A (p.Pro1337His)
c.3677C>A (p.Pro1226His)
c.3758C>A (p.Pro1253His)
n.1333C>A
c.3776C>A (p.Pro1259His)
n.4149C>A
n.876C>A
c.2945C>A (p.Pro982His)
c.2720C>A (p.Pro907His)
c.3815C>A (p.Pro1272His)
c.1788C>A
c.*1111C>A (n.*1111C>A)
n.4754C>A
n.3355C>A
c.3866C>A (p.Pro1289His)
c.3914C>A (p.Pro1305His)
c.3974C>A (p.Pro1325His)
c.3524C>A (p.Pro1175His)
c.1826C>A (p.Pro609His)
c.1643C>A (p.Pro548His)
c.3875C>A (p.Pro1292His)
c.3827C>A (p.Pro1276His)
c.3596C>A (p.Pro1199His)
c.3497C>A (p.Pro1166His)
c.2678C>A (p.Pro893His)
n.4229C>A
13g.51937288G>ACA388020803ATP7Bc.*1659C>T (n.*1659C>T)
c.*2753C>T (n.*2753C>T)
c.3388C>T (p.Pro1130Ser)
c.4009C>T (p.Pro1337Ser)
c.3676C>T (p.Pro1226Ser)
c.3757C>T (p.Pro1253Ser)
n.1332C>T
c.3775C>T (p.Pro1259Ser)
n.4148C>T
n.875C>T
c.2944C>T (p.Pro982Ser)
c.2719C>T (p.Pro907Ser)
c.3814C>T (p.Pro1272Ser)
c.1787C>T
c.*1110C>T (n.*1110C>T)
n.4753C>T
n.3354C>T
c.3865C>T (p.Pro1289Ser)
c.3913C>T (p.Pro1305Ser)
c.3973C>T (p.Pro1325Ser)
c.3523C>T (p.Pro1175Ser)
c.1825C>T (p.Pro609Ser)
c.1642C>T (p.Pro548Ser)
c.3874C>T (p.Pro1292Ser)
c.3826C>T (p.Pro1276Ser)
c.3595C>T (p.Pro1199Ser)
c.3496C>T (p.Pro1166Ser)
c.2677C>T (p.Pro893Ser)
n.4228C>T
13g.51937288G>CCA388020804ATP7Bc.*1659C>G (n.*1659C>G)
c.*2753C>G (n.*2753C>G)
c.3388C>G (p.Pro1130Ala)
c.4009C>G (p.Pro1337Ala)
c.3676C>G (p.Pro1226Ala)
c.3757C>G (p.Pro1253Ala)
n.1332C>G
c.3775C>G (p.Pro1259Ala)
n.4148C>G
n.875C>G
c.2944C>G (p.Pro982Ala)
c.2719C>G (p.Pro907Ala)
c.3814C>G (p.Pro1272Ala)
c.1787C>G
c.*1110C>G (n.*1110C>G)
n.4753C>G
n.3354C>G
c.3865C>G (p.Pro1289Ala)
c.3913C>G (p.Pro1305Ala)
c.3973C>G (p.Pro1325Ala)
c.3523C>G (p.Pro1175Ala)
c.1825C>G (p.Pro609Ala)
c.1642C>G (p.Pro548Ala)
c.3874C>G (p.Pro1292Ala)
c.3826C>G (p.Pro1276Ala)
c.3595C>G (p.Pro1199Ala)
c.3496C>G (p.Pro1166Ala)
c.2677C>G (p.Pro893Ala)
n.4228C>G
13g.51937288G>TCA388020806ATP7Bc.*1659C>A (n.*1659C>A)
c.*2753C>A (n.*2753C>A)
c.3388C>A (p.Pro1130Thr)
c.4009C>A (p.Pro1337Thr)
c.3676C>A (p.Pro1226Thr)
c.3757C>A (p.Pro1253Thr)
n.1332C>A
c.3775C>A (p.Pro1259Thr)
n.4148C>A
n.875C>A
c.2944C>A (p.Pro982Thr)
c.2719C>A (p.Pro907Thr)
c.3814C>A (p.Pro1272Thr)
c.1787C>A
c.*1110C>A (n.*1110C>A)
n.4753C>A
n.3354C>A
c.3865C>A (p.Pro1289Thr)
c.3913C>A (p.Pro1305Thr)
c.3973C>A (p.Pro1325Thr)
c.3523C>A (p.Pro1175Thr)
c.1825C>A (p.Pro609Thr)
c.1642C>A (p.Pro548Thr)
c.3874C>A (p.Pro1292Thr)
c.3826C>A (p.Pro1276Thr)
c.3595C>A (p.Pro1199Thr)
c.3496C>A (p.Pro1166Thr)
c.2677C>A (p.Pro893Thr)
n.4228C>A
13g.51937289T>ACA483893459ATP7Bc.*1658A>T (n.*1658A>T)
c.*2752A>T (n.*2752A>T)
c.3387A>T (p.Ile1129=)
c.4008A>T (p.Ile1336=)
c.3675A>T (p.Ile1225=)
c.3756A>T (p.Ile1252=)
n.1331A>T
c.3774A>T (p.Ile1258=)
n.4147A>T
n.874A>T
c.2943A>T (p.Ile981=)
c.2718A>T (p.Ile906=)
c.3813A>T (p.Ile1271=)
c.1786A>T
c.*1109A>T (n.*1109A>T)
n.4752A>T
n.3353A>T
c.3864A>T (p.Ile1288=)
c.3912A>T (p.Ile1304=)
c.3972A>T (p.Ile1324=)
c.3522A>T (p.Ile1174=)
c.1824A>T (p.Ile608=)
c.1641A>T (p.Ile547=)
c.3873A>T (p.Ile1291=)
c.3825A>T (p.Ile1275=)
c.3594A>T (p.Ile1198=)
c.3495A>T (p.Ile1165=)
c.2676A>T (p.Ile892=)
n.4227A>T
13g.51937289T>CCA388020808ATP7Bc.*1658A>G (n.*1658A>G)
c.*2752A>G (n.*2752A>G)
c.3387A>G (p.Ile1129Met)
c.4008A>G (p.Ile1336Met)
c.3675A>G (p.Ile1225Met)
c.3756A>G (p.Ile1252Met)
n.1331A>G
c.3774A>G (p.Ile1258Met)
n.4147A>G
n.874A>G
c.2943A>G (p.Ile981Met)
c.2718A>G (p.Ile906Met)
c.3813A>G (p.Ile1271Met)
c.1786A>G
c.*1109A>G (n.*1109A>G)
n.4752A>G
n.3353A>G
c.3864A>G (p.Ile1288Met)
c.3912A>G (p.Ile1304Met)
c.3972A>G (p.Ile1324Met)
c.3522A>G (p.Ile1174Met)
c.1824A>G (p.Ile608Met)
c.1641A>G (p.Ile547Met)
c.3873A>G (p.Ile1291Met)
c.3825A>G (p.Ile1275Met)
c.3594A>G (p.Ile1198Met)
c.3495A>G (p.Ile1165Met)
c.2676A>G (p.Ile892Met)
n.4227A>G
13g.51937289T>GCA483893460ATP7Bc.*1658A>C (n.*1658A>C)
c.*2752A>C (n.*2752A>C)
c.3387A>C (p.Ile1129=)
c.4008A>C (p.Ile1336=)
c.3675A>C (p.Ile1225=)
c.3756A>C (p.Ile1252=)
n.1331A>C
c.3774A>C (p.Ile1258=)
n.4147A>C
n.874A>C
c.2943A>C (p.Ile981=)
c.2718A>C (p.Ile906=)
c.3813A>C (p.Ile1271=)
c.1786A>C
c.*1109A>C (n.*1109A>C)
n.4752A>C
n.3353A>C
c.3864A>C (p.Ile1288=)
c.3912A>C (p.Ile1304=)
c.3972A>C (p.Ile1324=)
c.3522A>C (p.Ile1174=)
c.1824A>C (p.Ile608=)
c.1641A>C (p.Ile547=)
c.3873A>C (p.Ile1291=)
c.3825A>C (p.Ile1275=)
c.3594A>C (p.Ile1198=)
c.3495A>C (p.Ile1165=)
c.2676A>C (p.Ile892=)
n.4227A>C
13g.51937290_51937291delCA912974790ATP7Bc.*1657_*1658del (n.*1657_*1658del)
c.*2751_*2752del (n.*2751_*2752del)
c.3386_3387del (p.Ile1129ThrfsTer?)
c.4007_4008del (p.Ile1336ThrfsTer?)
c.3674_3675del (p.Ile1225ThrfsTer?)
c.3755_3756del (p.Ile1252ThrfsTer?)
n.1330_1331del
c.3773_3774del (p.Ile1258ThrfsTer?)
n.4146_4147del
n.873_874del
c.2942_2943del (p.Ile981ThrfsTer?)
c.2717_2718del (p.Ile906ThrfsTer?)
c.3812_3813del (p.Ile1271ThrfsTer?)
c.1785_1786del
c.*1108_*1109del (n.*1108_*1109del)
n.4751_4752del
n.3352_3353del
c.3863_3864del (p.Ile1288ThrfsTer?)
c.3911_3912del (p.Ile1304ThrfsTer?)
c.3971_3972del (p.Ile1324ThrfsTer?)
c.3521_3522del (p.Ile1174ThrfsTer?)
c.1823_1824del (p.Ile608ThrfsTer?)
c.1640_1641del (p.Ile547ThrfsTer?)
c.3872_3873del (p.Ile1291ThrfsTer?)
c.3824_3825del (p.Ile1275ThrfsTer?)
c.3593_3594del (p.Ile1198ThrfsTer?)
c.3494_3495del (p.Ile1165ThrfsTer?)
c.2675_2676del (p.Ile892ThrfsTer?)
n.4226_4227del
13g.51937290A=CA2091553320ATP7Bc.*1657T= (n.*1657T=)
c.*2751T= (n.*2751T=)
c.3386T= (p.Ile1129=)
c.4007T= (p.Ile1336=)
c.3674T= (p.Ile1225=)
c.3755T= (p.Ile1252=)
n.1330T=
c.3773T= (p.Ile1258=)
n.4146T=
n.873T=
c.2942T= (p.Ile981=)
c.2717T= (p.Ile906=)
c.3812T= (p.Ile1271=)
c.1785T=
c.*1108T= (n.*1108T=)
n.4751T=
n.3352T=
c.3863T= (p.Ile1288=)
c.3911T= (p.Ile1304=)
c.3971T= (p.Ile1324=)
c.3521T= (p.Ile1174=)
c.1823T= (p.Ile608=)
c.1640T= (p.Ile547=)
c.3872T= (p.Ile1291=)
c.3824T= (p.Ile1275=)
c.3593T= (p.Ile1198=)
c.3494T= (p.Ile1165=)
c.2675T= (p.Ile892=)
n.4226T=
13g.51937290A>CCA388020813ATP7Bc.*1657T>G (n.*1657T>G)
c.*2751T>G (n.*2751T>G)
c.3386T>G (p.Ile1129Arg)
c.4007T>G (p.Ile1336Arg)
c.3674T>G (p.Ile1225Arg)
c.3755T>G (p.Ile1252Arg)
n.1330T>G
c.3773T>G (p.Ile1258Arg)
n.4146T>G
n.873T>G
c.2942T>G (p.Ile981Arg)
c.2717T>G (p.Ile906Arg)
c.3812T>G (p.Ile1271Arg)
c.1785T>G
c.*1108T>G (n.*1108T>G)
n.4751T>G
n.3352T>G
c.3863T>G (p.Ile1288Arg)
c.3911T>G (p.Ile1304Arg)
c.3971T>G (p.Ile1324Arg)
c.3521T>G (p.Ile1174Arg)
c.1823T>G (p.Ile608Arg)
c.1640T>G (p.Ile547Arg)
c.3872T>G (p.Ile1291Arg)
c.3824T>G (p.Ile1275Arg)
c.3593T>G (p.Ile1198Arg)
c.3494T>G (p.Ile1165Arg)
c.2675T>G (p.Ile892Arg)
n.4226T>G
13g.51937290A>GCA388020811ATP7Bc.*1657T>C (n.*1657T>C)
c.*2751T>C (n.*2751T>C)
c.3386T>C (p.Ile1129Thr)
c.4007T>C (p.Ile1336Thr)
c.3674T>C (p.Ile1225Thr)
c.3755T>C (p.Ile1252Thr)
n.1330T>C
c.3773T>C (p.Ile1258Thr)
n.4146T>C
n.873T>C
c.2942T>C (p.Ile981Thr)
c.2717T>C (p.Ile906Thr)
c.3812T>C (p.Ile1271Thr)
c.1785T>C
c.*1108T>C (n.*1108T>C)
n.4751T>C
n.3352T>C
c.3863T>C (p.Ile1288Thr)
c.3911T>C (p.Ile1304Thr)
c.3971T>C (p.Ile1324Thr)
c.3521T>C (p.Ile1174Thr)
c.1823T>C (p.Ile608Thr)
c.1640T>C (p.Ile547Thr)
c.3872T>C (p.Ile1291Thr)
c.3824T>C (p.Ile1275Thr)
c.3593T>C (p.Ile1198Thr)
c.3494T>C (p.Ile1165Thr)
c.2675T>C (p.Ile892Thr)
n.4226T>C
 ClinVar dbSNP gnomAD v4
13g.51937290A>TCA388020812ATP7Bc.*1657T>A (n.*1657T>A)
c.*2751T>A (n.*2751T>A)
c.3386T>A (p.Ile1129Lys)
c.4007T>A (p.Ile1336Lys)
c.3674T>A (p.Ile1225Lys)
c.3755T>A (p.Ile1252Lys)
n.1330T>A
c.3773T>A (p.Ile1258Lys)
n.4146T>A
n.873T>A
c.2942T>A (p.Ile981Lys)
c.2717T>A (p.Ile906Lys)
c.3812T>A (p.Ile1271Lys)
c.1785T>A
c.*1108T>A (n.*1108T>A)
n.4751T>A
n.3352T>A
c.3863T>A (p.Ile1288Lys)
c.3911T>A (p.Ile1304Lys)
c.3971T>A (p.Ile1324Lys)
c.3521T>A (p.Ile1174Lys)
c.1823T>A (p.Ile608Lys)
c.1640T>A (p.Ile547Lys)
c.3872T>A (p.Ile1291Lys)
c.3824T>A (p.Ile1275Lys)
c.3593T>A (p.Ile1198Lys)
c.3494T>A (p.Ile1165Lys)
c.2675T>A (p.Ile892Lys)
n.4226T>A
13g.51937290_51937291delinsATCA2091553318ATP7Bc.*1656_*1657delinsAT (n.*1656_*1657delinsAT)
c.*2750_*2751delinsAT (n.*2750_*2751delinsAT)
c.3385_3386delinsAT (p.Ile1129=)
c.4006_4007delinsAT (p.Ile1336=)
c.3673_3674delinsAT (p.Ile1225=)
c.3754_3755delinsAT (p.Ile1252=)
n.1329_1330delinsAT
c.3772_3773delinsAT (p.Ile1258=)
n.4145_4146delinsAT
n.872_873delinsAT
c.2941_2942delinsAT (p.Ile981=)
c.2716_2717delinsAT (p.Ile906=)
c.3811_3812delinsAT (p.Ile1271=)
c.1784_1785delinsAT
c.*1107_*1108delinsAT (n.*1107_*1108delinsAT)
n.4750_4751delinsAT
n.3351_3352delinsAT
c.3862_3863delinsAT (p.Ile1288=)
c.3910_3911delinsAT (p.Ile1304=)
c.3970_3971delinsAT (p.Ile1324=)
c.3520_3521delinsAT (p.Ile1174=)
c.1822_1823delinsAT (p.Ile608=)
c.1639_1640delinsAT (p.Ile547=)
c.3871_3872delinsAT (p.Ile1291=)
c.3823_3824delinsAT (p.Ile1275=)
c.3592_3593delinsAT (p.Ile1198=)
c.3493_3494delinsAT (p.Ile1165=)
c.2674_2675delinsAT (p.Ile892=)
n.4225_4226delinsAT
13g.51937291delCA658823693ATP7Bc.*1656del (n.*1656del)
c.*2750del (n.*2750del)
c.3385del (p.Ile1129TyrfsTer?)
c.4006del (p.Ile1336TyrfsTer?)
c.3673del (p.Ile1225TyrfsTer?)
c.3754del (p.Ile1252TyrfsTer?)
n.1329del
c.3772del (p.Ile1258TyrfsTer?)
n.4145del
n.872del
c.2941del (p.Ile981TyrfsTer?)
c.2716del (p.Ile906TyrfsTer?)
c.3811del (p.Ile1271TyrfsTer?)
c.1784del
c.*1107del (n.*1107del)
n.4750del
n.3351del
c.3862del (p.Ile1288TyrfsTer?)
c.3910del (p.Ile1304TyrfsTer?)
c.3970del (p.Ile1324TyrfsTer?)
c.3520del (p.Ile1174TyrfsTer?)
c.1822del (p.Ile608TyrfsTer?)
c.1639del (p.Ile547TyrfsTer?)
c.3871del (p.Ile1291TyrfsTer?)
c.3823del (p.Ile1275TyrfsTer?)
c.3592del (p.Ile1198TyrfsTer?)
c.3493del (p.Ile1165TyrfsTer?)
c.2674del (p.Ile892TyrfsTer?)
n.4225del
 ClinVar dbSNP
13g.51937291T>ACA388020814ATP7Bc.*1656A>T (n.*1656A>T)
c.*2750A>T (n.*2750A>T)
c.3385A>T (p.Ile1129Leu)
c.4006A>T (p.Ile1336Leu)
c.3673A>T (p.Ile1225Leu)
c.3754A>T (p.Ile1252Leu)
n.1329A>T
c.3772A>T (p.Ile1258Leu)
n.4145A>T
n.872A>T
c.2941A>T (p.Ile981Leu)
c.2716A>T (p.Ile906Leu)
c.3811A>T (p.Ile1271Leu)
c.1784A>T
c.*1107A>T (n.*1107A>T)
n.4750A>T
n.3351A>T
c.3862A>T (p.Ile1288Leu)
c.3910A>T (p.Ile1304Leu)
c.3970A>T (p.Ile1324Leu)
c.3520A>T (p.Ile1174Leu)
c.1822A>T (p.Ile608Leu)
c.1639A>T (p.Ile547Leu)
c.3871A>T (p.Ile1291Leu)
c.3823A>T (p.Ile1275Leu)
c.3592A>T (p.Ile1198Leu)
c.3493A>T (p.Ile1165Leu)
c.2674A>T (p.Ile892Leu)
n.4225A>T
13g.51937291T>CCA388020815ATP7Bc.*1656A>G (n.*1656A>G)
c.*2750A>G (n.*2750A>G)
c.3385A>G (p.Ile1129Val)
c.4006A>G (p.Ile1336Val)
c.3673A>G (p.Ile1225Val)
c.3754A>G (p.Ile1252Val)
n.1329A>G
c.3772A>G (p.Ile1258Val)
n.4145A>G
n.872A>G
c.2941A>G (p.Ile981Val)
c.2716A>G (p.Ile906Val)
c.3811A>G (p.Ile1271Val)
c.1784A>G
c.*1107A>G (n.*1107A>G)
n.4750A>G
n.3351A>G
c.3862A>G (p.Ile1288Val)
c.3910A>G (p.Ile1304Val)
c.3970A>G (p.Ile1324Val)
c.3520A>G (p.Ile1174Val)
c.1822A>G (p.Ile608Val)
c.1639A>G (p.Ile547Val)
c.3871A>G (p.Ile1291Val)
c.3823A>G (p.Ile1275Val)
c.3592A>G (p.Ile1198Val)
c.3493A>G (p.Ile1165Val)
c.2674A>G (p.Ile892Val)
n.4225A>G
13g.51937291T>GCA388020816ATP7Bc.*1656A>C (n.*1656A>C)
c.*2750A>C (n.*2750A>C)
c.3385A>C (p.Ile1129Leu)
c.4006A>C (p.Ile1336Leu)
c.3673A>C (p.Ile1225Leu)
c.3754A>C (p.Ile1252Leu)
n.1329A>C
c.3772A>C (p.Ile1258Leu)
n.4145A>C
n.872A>C
c.2941A>C (p.Ile981Leu)
c.2716A>C (p.Ile906Leu)
c.3811A>C (p.Ile1271Leu)
c.1784A>C
c.*1107A>C (n.*1107A>C)
n.4750A>C
n.3351A>C
c.3862A>C (p.Ile1288Leu)
c.3910A>C (p.Ile1304Leu)
c.3970A>C (p.Ile1324Leu)
c.3520A>C (p.Ile1174Leu)
c.1822A>C (p.Ile608Leu)
c.1639A>C (p.Ile547Leu)
c.3871A>C (p.Ile1291Leu)
c.3823A>C (p.Ile1275Leu)
c.3592A>C (p.Ile1198Leu)
c.3493A>C (p.Ile1165Leu)
c.2674A>C (p.Ile892Leu)
n.4225A>C
13g.51937292C>ACA483893461ATP7Bc.*1655G>T (n.*1655G>T)
c.*2749G>T (n.*2749G>T)
c.3384G>T (p.Gly1128=)
c.4005G>T (p.Gly1335=)
c.3672G>T (p.Gly1224=)
c.3753G>T (p.Gly1251=)
n.1328G>T
c.3771G>T (p.Gly1257=)
n.4144G>T
n.871G>T
c.2940G>T (p.Gly980=)
c.2715G>T (p.Gly905=)
c.3810G>T (p.Gly1270=)
c.1783G>T
c.*1106G>T (n.*1106G>T)
n.4749G>T
n.3350G>T
c.3861G>T (p.Gly1287=)
c.3909G>T (p.Gly1303=)
c.3969G>T (p.Gly1323=)
c.3519G>T (p.Gly1173=)
c.1821G>T (p.Gly607=)
c.1638G>T (p.Gly546=)
c.3870G>T (p.Gly1290=)
c.3822G>T (p.Gly1274=)
c.3591G>T (p.Gly1197=)
c.3492G>T (p.Gly1164=)
c.2673G>T (p.Gly891=)
n.4224G>T
13g.51937292C>GCA483893462ATP7Bc.*1655G>C (n.*1655G>C)
c.*2749G>C (n.*2749G>C)
c.3384G>C (p.Gly1128=)
c.4005G>C (p.Gly1335=)
c.3672G>C (p.Gly1224=)
c.3753G>C (p.Gly1251=)
n.1328G>C
c.3771G>C (p.Gly1257=)
n.4144G>C
n.871G>C
c.2940G>C (p.Gly980=)
c.2715G>C (p.Gly905=)
c.3810G>C (p.Gly1270=)
c.1783G>C
c.*1106G>C (n.*1106G>C)
n.4749G>C
n.3350G>C
c.3861G>C (p.Gly1287=)
c.3909G>C (p.Gly1303=)
c.3969G>C (p.Gly1323=)
c.3519G>C (p.Gly1173=)
c.1821G>C (p.Gly607=)
c.1638G>C (p.Gly546=)
c.3870G>C (p.Gly1290=)
c.3822G>C (p.Gly1274=)
c.3591G>C (p.Gly1197=)
c.3492G>C (p.Gly1164=)
c.2673G>C (p.Gly891=)
n.4224G>C
13g.51937292C>TCA483893463ATP7Bc.*1655G>A (n.*1655G>A)
c.*2749G>A (n.*2749G>A)
c.3384G>A (p.Gly1128=)
c.4005G>A (p.Gly1335=)
c.3672G>A (p.Gly1224=)
c.3753G>A (p.Gly1251=)
n.1328G>A
c.3771G>A (p.Gly1257=)
n.4144G>A
n.871G>A
c.2940G>A (p.Gly980=)
c.2715G>A (p.Gly905=)
c.3810G>A (p.Gly1270=)
c.1783G>A
c.*1106G>A (n.*1106G>A)
n.4749G>A
n.3350G>A
c.3861G>A (p.Gly1287=)
c.3909G>A (p.Gly1303=)
c.3969G>A (p.Gly1323=)
c.3519G>A (p.Gly1173=)
c.1821G>A (p.Gly607=)
c.1638G>A (p.Gly546=)
c.3870G>A (p.Gly1290=)
c.3822G>A (p.Gly1274=)
c.3591G>A (p.Gly1197=)
c.3492G>A (p.Gly1164=)
c.2673G>A (p.Gly891=)
n.4224G>A
13g.51937292_51937293insGCAACCCATTATAACCA2695218730ATP7Bc.*1655_*1656insTTATAATGGGTTGCG (n.*1655_*1656insTTATAATGGGTTGCG)
c.*2749_*2750insTTATAATGGGTTGCG (n.*2749_*2750insTTATAATGGGTTGCG)
c.3384_3385insTTATAATGGGTTGCG
c.4005_4006insTTATAATGGGTTGCG
c.3672_3673insTTATAATGGGTTGCG
c.3753_3754insTTATAATGGGTTGCG
n.1328_1329insTTATAATGGGTTGCG
c.3771_3772insTTATAATGGGTTGCG
n.4144_4145insTTATAATGGGTTGCG
n.871_872insTTATAATGGGTTGCG
c.2940_2941insTTATAATGGGTTGCG
c.2715_2716insTTATAATGGGTTGCG
c.3810_3811insTTATAATGGGTTGCG
c.1783_1784insTTATAATGGGTTGCG
c.*1106_*1107insTTATAATGGGTTGCG (n.*1106_*1107insTTATAATGGGTTGCG)
n.4749_4750insTTATAATGGGTTGCG
n.3350_3351insTTATAATGGGTTGCG
c.3861_3862insTTATAATGGGTTGCG
c.3909_3910insTTATAATGGGTTGCG
c.3969_3970insTTATAATGGGTTGCG
c.3519_3520insTTATAATGGGTTGCG
c.1821_1822insTTATAATGGGTTGCG
c.1638_1639insTTATAATGGGTTGCG
c.3870_3871insTTATAATGGGTTGCG
c.3822_3823insTTATAATGGGTTGCG
c.3591_3592insTTATAATGGGTTGCG
c.3492_3493insTTATAATGGGTTGCG
c.2673_2674insTTATAATGGGTTGCG
n.4224_4225insTTATAATGGGTTGCG
13g.51937294dupCA2623119056ATP7Bc.*1655dup (n.*1655dup)
c.*2749dup (n.*2749dup)
c.3384dup (p.Ile1129AspfsTer?)
c.4005dup (p.Ile1336AspfsTer?)
c.3672dup (p.Ile1225AspfsTer?)
c.3753dup (p.Ile1252AspfsTer?)
n.1328dup
c.3771dup (p.Ile1258AspfsTer?)
n.4144dup
n.871dup
c.2940dup (p.Ile981AspfsTer?)
c.2715dup (p.Ile906AspfsTer?)
c.3810dup (p.Ile1271AspfsTer?)
c.1783dup
c.*1106dup (n.*1106dup)
n.4749dup
n.3350dup
c.3861dup (p.Ile1288AspfsTer?)
c.3909dup (p.Ile1304AspfsTer?)
c.3969dup (p.Ile1324AspfsTer?)
c.3519dup (p.Ile1174AspfsTer?)
c.1821dup (p.Ile608AspfsTer?)
c.1638dup (p.Ile547AspfsTer?)
c.3870dup (p.Ile1291AspfsTer?)
c.3822dup (p.Ile1275AspfsTer?)
c.3591dup (p.Ile1198AspfsTer?)
c.3492dup (p.Ile1165AspfsTer?)
c.2673dup (p.Ile892AspfsTer?)
n.4224dup
 gnomAD v4
13g.51937298_51937299insCATTATAACCCAACCCA2695218731ATP7Bc.*1655_*1656insTTATAATGGGTTGGG (n.*1655_*1656insTTATAATGGGTTGGG)
c.*2749_*2750insTTATAATGGGTTGGG (n.*2749_*2750insTTATAATGGGTTGGG)
c.3384_3385insTTATAATGGGTTGGG
c.4005_4006insTTATAATGGGTTGGG
c.3672_3673insTTATAATGGGTTGGG
c.3753_3754insTTATAATGGGTTGGG
n.1328_1329insTTATAATGGGTTGGG
c.3771_3772insTTATAATGGGTTGGG
n.4144_4145insTTATAATGGGTTGGG
n.871_872insTTATAATGGGTTGGG
c.2940_2941insTTATAATGGGTTGGG
c.2715_2716insTTATAATGGGTTGGG
c.3810_3811insTTATAATGGGTTGGG
c.1783_1784insTTATAATGGGTTGGG
c.*1106_*1107insTTATAATGGGTTGGG (n.*1106_*1107insTTATAATGGGTTGGG)
n.4749_4750insTTATAATGGGTTGGG
n.3350_3351insTTATAATGGGTTGGG
c.3861_3862insTTATAATGGGTTGGG
c.3909_3910insTTATAATGGGTTGGG
c.3969_3970insTTATAATGGGTTGGG
c.3519_3520insTTATAATGGGTTGGG
c.1821_1822insTTATAATGGGTTGGG
c.1638_1639insTTATAATGGGTTGGG
c.3870_3871insTTATAATGGGTTGGG
c.3822_3823insTTATAATGGGTTGGG
c.3591_3592insTTATAATGGGTTGGG
c.3492_3493insTTATAATGGGTTGGG
c.2673_2674insTTATAATGGGTTGGG
n.4224_4225insTTATAATGGGTTGGG
13g.51937293C>ACA388020818ATP7Bc.*1654G>T (n.*1654G>T)
c.*2748G>T (n.*2748G>T)
c.3383G>T (p.Gly1128Val)
c.4004G>T (p.Gly1335Val)
c.3671G>T (p.Gly1224Val)
c.3752G>T (p.Gly1251Val)
n.1327G>T
c.3770G>T (p.Gly1257Val)
n.4143G>T
n.870G>T
c.2939G>T (p.Gly980Val)
c.2714G>T (p.Gly905Val)
c.3809G>T (p.Gly1270Val)
c.1782G>T
c.*1105G>T (n.*1105G>T)
n.4748G>T
n.3349G>T
c.3860G>T (p.Gly1287Val)
c.3908G>T (p.Gly1303Val)
c.3968G>T (p.Gly1323Val)
c.3518G>T (p.Gly1173Val)
c.1820G>T (p.Gly607Val)
c.1637G>T (p.Gly546Val)
c.3869G>T (p.Gly1290Val)
c.3821G>T (p.Gly1274Val)
c.3590G>T (p.Gly1197Val)
c.3491G>T (p.Gly1164Val)
c.2672G>T (p.Gly891Val)
n.4223G>T
 ClinVar dbSNP gnomAD v4
13g.51937293C=CA2091553331ATP7Bc.*1654G= (n.*1654G=)
c.*2748G= (n.*2748G=)
c.3383G= (p.Gly1128=)
c.4004G= (p.Gly1335=)
c.3671G= (p.Gly1224=)
c.3752G= (p.Gly1251=)
n.1327G=
c.3770G= (p.Gly1257=)
n.4143G=
n.870G=
c.2939G= (p.Gly980=)
c.2714G= (p.Gly905=)
c.3809G= (p.Gly1270=)
c.1782G=
c.*1105G= (n.*1105G=)
n.4748G=
n.3349G=
c.3860G= (p.Gly1287=)
c.3908G= (p.Gly1303=)
c.3968G= (p.Gly1323=)
c.3518G= (p.Gly1173=)
c.1820G= (p.Gly607=)
c.1637G= (p.Gly546=)
c.3869G= (p.Gly1290=)
c.3821G= (p.Gly1274=)
c.3590G= (p.Gly1197=)
c.3491G= (p.Gly1164=)
c.2672G= (p.Gly891=)
n.4223G=
13g.51937293C>GCA388020821ATP7Bc.*1654G>C (n.*1654G>C)
c.*2748G>C (n.*2748G>C)
c.3383G>C (p.Gly1128Ala)
c.4004G>C (p.Gly1335Ala)
c.3671G>C (p.Gly1224Ala)
c.3752G>C (p.Gly1251Ala)
n.1327G>C
c.3770G>C (p.Gly1257Ala)
n.4143G>C
n.870G>C
c.2939G>C (p.Gly980Ala)
c.2714G>C (p.Gly905Ala)
c.3809G>C (p.Gly1270Ala)
c.1782G>C
c.*1105G>C (n.*1105G>C)
n.4748G>C
n.3349G>C
c.3860G>C (p.Gly1287Ala)
c.3908G>C (p.Gly1303Ala)
c.3968G>C (p.Gly1323Ala)
c.3518G>C (p.Gly1173Ala)
c.1820G>C (p.Gly607Ala)
c.1637G>C (p.Gly546Ala)
c.3869G>C (p.Gly1290Ala)
c.3821G>C (p.Gly1274Ala)
c.3590G>C (p.Gly1197Ala)
c.3491G>C (p.Gly1164Ala)
c.2672G>C (p.Gly891Ala)
n.4223G>C
13g.51937293C>TCA388020824ATP7Bc.*1654G>A (n.*1654G>A)
c.*2748G>A (n.*2748G>A)
c.3383G>A (p.Gly1128Glu)
c.4004G>A (p.Gly1335Glu)
c.3671G>A (p.Gly1224Glu)
c.3752G>A (p.Gly1251Glu)
n.1327G>A
c.3770G>A (p.Gly1257Glu)
n.4143G>A
n.870G>A
c.2939G>A (p.Gly980Glu)
c.2714G>A (p.Gly905Glu)
c.3809G>A (p.Gly1270Glu)
c.1782G>A
c.*1105G>A (n.*1105G>A)
n.4748G>A
n.3349G>A
c.3860G>A (p.Gly1287Glu)
c.3908G>A (p.Gly1303Glu)
c.3968G>A (p.Gly1323Glu)
c.3518G>A (p.Gly1173Glu)
c.1820G>A (p.Gly607Glu)
c.1637G>A (p.Gly546Glu)
c.3869G>A (p.Gly1290Glu)
c.3821G>A (p.Gly1274Glu)
c.3590G>A (p.Gly1197Glu)
c.3491G>A (p.Gly1164Glu)
c.2672G>A (p.Gly891Glu)
n.4223G>A
13g.51937294C>ACA388020827ATP7Bc.*1653G>T (n.*1653G>T)
c.*2747G>T (n.*2747G>T)
c.3382G>T (p.Gly1128Trp)
c.4003G>T (p.Gly1335Trp)
c.3670G>T (p.Gly1224Trp)
c.3751G>T (p.Gly1251Trp)
n.1326G>T
c.3769G>T (p.Gly1257Trp)
n.4142G>T
n.869G>T
c.2938G>T (p.Gly980Trp)
c.2713G>T (p.Gly905Trp)
c.3808G>T (p.Gly1270Trp)
c.1781G>T
c.*1104G>T (n.*1104G>T)
n.4747G>T
n.3348G>T
c.3859G>T (p.Gly1287Trp)
c.3907G>T (p.Gly1303Trp)
c.3967G>T (p.Gly1323Trp)
c.3517G>T (p.Gly1173Trp)
c.1819G>T (p.Gly607Trp)
c.1636G>T (p.Gly546Trp)
c.3868G>T (p.Gly1290Trp)
c.3820G>T (p.Gly1274Trp)
c.3589G>T (p.Gly1197Trp)
c.3490G>T (p.Gly1164Trp)
c.2671G>T (p.Gly891Trp)
n.4222G>T
13g.51937294C>GCA388020828ATP7Bc.*1653G>C (n.*1653G>C)
c.*2747G>C (n.*2747G>C)
c.3382G>C (p.Gly1128Arg)
c.4003G>C (p.Gly1335Arg)
c.3670G>C (p.Gly1224Arg)
c.3751G>C (p.Gly1251Arg)
n.1326G>C
c.3769G>C (p.Gly1257Arg)
n.4142G>C
n.869G>C
c.2938G>C (p.Gly980Arg)
c.2713G>C (p.Gly905Arg)
c.3808G>C (p.Gly1270Arg)
c.1781G>C
c.*1104G>C (n.*1104G>C)
n.4747G>C
n.3348G>C
c.3859G>C (p.Gly1287Arg)
c.3907G>C (p.Gly1303Arg)
c.3967G>C (p.Gly1323Arg)
c.3517G>C (p.Gly1173Arg)
c.1819G>C (p.Gly607Arg)
c.1636G>C (p.Gly546Arg)
c.3868G>C (p.Gly1290Arg)
c.3820G>C (p.Gly1274Arg)
c.3589G>C (p.Gly1197Arg)
c.3490G>C (p.Gly1164Arg)
c.2671G>C (p.Gly891Arg)
n.4222G>C
13g.51937294C>TCA388020829ATP7Bc.*1653G>A (n.*1653G>A)
c.*2747G>A (n.*2747G>A)
c.3382G>A (p.Gly1128Arg)
c.4003G>A (p.Gly1335Arg)
c.3670G>A (p.Gly1224Arg)
c.3751G>A (p.Gly1251Arg)
n.1326G>A
c.3769G>A (p.Gly1257Arg)
n.4142G>A
n.869G>A
c.2938G>A (p.Gly980Arg)
c.2713G>A (p.Gly905Arg)
c.3808G>A (p.Gly1270Arg)
c.1781G>A
c.*1104G>A (n.*1104G>A)
n.4747G>A
n.3348G>A
c.3859G>A (p.Gly1287Arg)
c.3907G>A (p.Gly1303Arg)
c.3967G>A (p.Gly1323Arg)
c.3517G>A (p.Gly1173Arg)
c.1819G>A (p.Gly607Arg)
c.1636G>A (p.Gly546Arg)
c.3868G>A (p.Gly1290Arg)
c.3820G>A (p.Gly1274Arg)
c.3589G>A (p.Gly1197Arg)
c.3490G>A (p.Gly1164Arg)
c.2671G>A (p.Gly891Arg)
n.4222G>A
 ClinVar
13g.51937295A>CCA483893464ATP7Bc.*1652T>G (n.*1652T>G)
c.*2746T>G (n.*2746T>G)
c.3381T>G (p.Val1127=)
c.4002T>G (p.Val1334=)
c.3669T>G (p.Val1223=)
c.3750T>G (p.Val1250=)
n.1325T>G
c.3768T>G (p.Val1256=)
n.4141T>G
n.868T>G
c.2937T>G (p.Val979=)
c.2712T>G (p.Val904=)
c.3807T>G (p.Val1269=)
c.1780T>G
c.*1103T>G (n.*1103T>G)
n.4746T>G
n.3347T>G
c.3858T>G (p.Val1286=)
c.3906T>G (p.Val1302=)
c.3966T>G (p.Val1322=)
c.3516T>G (p.Val1172=)
c.1818T>G (p.Val606=)
c.1635T>G (p.Val545=)
c.3867T>G (p.Val1289=)
c.3819T>G (p.Val1273=)
c.3588T>G (p.Val1196=)
c.3489T>G (p.Val1163=)
c.2670T>G (p.Val890=)
n.4221T>G
13g.51937295A>GCA483893465ATP7Bc.*1652T>C (n.*1652T>C)
c.*2746T>C (n.*2746T>C)
c.3381T>C (p.Val1127=)
c.4002T>C (p.Val1334=)
c.3669T>C (p.Val1223=)
c.3750T>C (p.Val1250=)
n.1325T>C
c.3768T>C (p.Val1256=)
n.4141T>C
n.868T>C
c.2937T>C (p.Val979=)
c.2712T>C (p.Val904=)
c.3807T>C (p.Val1269=)
c.1780T>C
c.*1103T>C (n.*1103T>C)
n.4746T>C
n.3347T>C
c.3858T>C (p.Val1286=)
c.3906T>C (p.Val1302=)
c.3966T>C (p.Val1322=)
c.3516T>C (p.Val1172=)
c.1818T>C (p.Val606=)
c.1635T>C (p.Val545=)
c.3867T>C (p.Val1289=)
c.3819T>C (p.Val1273=)
c.3588T>C (p.Val1196=)
c.3489T>C (p.Val1163=)
c.2670T>C (p.Val890=)
n.4221T>C
13g.51937295A>TCA483893466ATP7Bc.*1652T>A (n.*1652T>A)
c.*2746T>A (n.*2746T>A)
c.3381T>A (p.Val1127=)
c.4002T>A (p.Val1334=)
c.3669T>A (p.Val1223=)
c.3750T>A (p.Val1250=)
n.1325T>A
c.3768T>A (p.Val1256=)
n.4141T>A
n.868T>A
c.2937T>A (p.Val979=)
c.2712T>A (p.Val904=)
c.3807T>A (p.Val1269=)
c.1780T>A
c.*1103T>A (n.*1103T>A)
n.4746T>A
n.3347T>A
c.3858T>A (p.Val1286=)
c.3906T>A (p.Val1302=)
c.3966T>A (p.Val1322=)
c.3516T>A (p.Val1172=)
c.1818T>A (p.Val606=)
c.1635T>A (p.Val545=)
c.3867T>A (p.Val1289=)
c.3819T>A (p.Val1273=)
c.3588T>A (p.Val1196=)
c.3489T>A (p.Val1163=)
c.2670T>A (p.Val890=)
n.4221T>A
13g.51937296A>CCA388020830ATP7Bc.*1651T>G (n.*1651T>G)
c.*2745T>G (n.*2745T>G)
c.3380T>G (p.Val1127Gly)
c.4001T>G (p.Val1334Gly)
c.3668T>G (p.Val1223Gly)
c.3749T>G (p.Val1250Gly)
n.1324T>G
c.3767T>G (p.Val1256Gly)
n.4140T>G
n.867T>G
c.2936T>G (p.Val979Gly)
c.2711T>G (p.Val904Gly)
c.3806T>G (p.Val1269Gly)
c.1779T>G
c.*1102T>G (n.*1102T>G)
n.4745T>G
n.3346T>G
c.3857T>G (p.Val1286Gly)
c.3905T>G (p.Val1302Gly)
c.3965T>G (p.Val1322Gly)
c.3515T>G (p.Val1172Gly)
c.1817T>G (p.Val606Gly)
c.1634T>G (p.Val545Gly)
c.3866T>G (p.Val1289Gly)
c.3818T>G (p.Val1273Gly)
c.3587T>G (p.Val1196Gly)
c.3488T>G (p.Val1163Gly)
c.2669T>G (p.Val890Gly)
n.4220T>G
13g.51937296A>GCA388020831ATP7Bc.*1651T>C (n.*1651T>C)
c.*2745T>C (n.*2745T>C)
c.3380T>C (p.Val1127Ala)
c.4001T>C (p.Val1334Ala)
c.3668T>C (p.Val1223Ala)
c.3749T>C (p.Val1250Ala)
n.1324T>C
c.3767T>C (p.Val1256Ala)
n.4140T>C
n.867T>C
c.2936T>C (p.Val979Ala)
c.2711T>C (p.Val904Ala)
c.3806T>C (p.Val1269Ala)
c.1779T>C
c.*1102T>C (n.*1102T>C)
n.4745T>C
n.3346T>C
c.3857T>C (p.Val1286Ala)
c.3905T>C (p.Val1302Ala)
c.3965T>C (p.Val1322Ala)
c.3515T>C (p.Val1172Ala)
c.1817T>C (p.Val606Ala)
c.1634T>C (p.Val545Ala)
c.3866T>C (p.Val1289Ala)
c.3818T>C (p.Val1273Ala)
c.3587T>C (p.Val1196Ala)
c.3488T>C (p.Val1163Ala)
c.2669T>C (p.Val890Ala)
n.4220T>C
13g.51937296A>TCA388020832ATP7Bc.*1651T>A (n.*1651T>A)
c.*2745T>A (n.*2745T>A)
c.3380T>A (p.Val1127Asp)
c.4001T>A (p.Val1334Asp)
c.3668T>A (p.Val1223Asp)
c.3749T>A (p.Val1250Asp)
n.1324T>A
c.3767T>A (p.Val1256Asp)
n.4140T>A
n.867T>A
c.2936T>A (p.Val979Asp)
c.2711T>A (p.Val904Asp)
c.3806T>A (p.Val1269Asp)
c.1779T>A
c.*1102T>A (n.*1102T>A)
n.4745T>A
n.3346T>A
c.3857T>A (p.Val1286Asp)
c.3905T>A (p.Val1302Asp)
c.3965T>A (p.Val1322Asp)
c.3515T>A (p.Val1172Asp)
c.1817T>A (p.Val606Asp)
c.1634T>A (p.Val545Asp)
c.3866T>A (p.Val1289Asp)
c.3818T>A (p.Val1273Asp)
c.3587T>A (p.Val1196Asp)
c.3488T>A (p.Val1163Asp)
c.2669T>A (p.Val890Asp)
n.4220T>A
13g.51937297C>ACA388020839ATP7Bc.*1650G>T (n.*1650G>T)
c.*2744G>T (n.*2744G>T)
c.3379G>T (p.Val1127Phe)
c.4000G>T (p.Val1334Phe)
c.3667G>T (p.Val1223Phe)
c.3748G>T (p.Val1250Phe)
n.1323G>T
c.3766G>T (p.Val1256Phe)
n.4139G>T
n.866G>T
c.2935G>T (p.Val979Phe)
c.2710G>T (p.Val904Phe)
c.3805G>T (p.Val1269Phe)
c.1778G>T
c.*1101G>T (n.*1101G>T)
n.4744G>T
n.3345G>T
c.3856G>T (p.Val1286Phe)
c.3904G>T (p.Val1302Phe)
c.3964G>T (p.Val1322Phe)
c.3514G>T (p.Val1172Phe)
c.1816G>T (p.Val606Phe)
c.1633G>T (p.Val545Phe)
c.3865G>T (p.Val1289Phe)
c.3817G>T (p.Val1273Phe)
c.3586G>T (p.Val1196Phe)
c.3487G>T (p.Val1163Phe)
c.2668G>T (p.Val890Phe)
n.4219G>T
 dbSNP
13g.51937297C=CA2091553337ATP7Bc.*1650G= (n.*1650G=)
c.*2744G= (n.*2744G=)
c.3379G= (p.Val1127=)
c.4000G= (p.Val1334=)
c.3667G= (p.Val1223=)
c.3748G= (p.Val1250=)
n.1323G=
c.3766G= (p.Val1256=)
n.4139G=
n.866G=
c.2935G= (p.Val979=)
c.2710G= (p.Val904=)
c.3805G= (p.Val1269=)
c.1778G=
c.*1101G= (n.*1101G=)
n.4744G=
n.3345G=
c.3856G= (p.Val1286=)
c.3904G= (p.Val1302=)
c.3964G= (p.Val1322=)
c.3514G= (p.Val1172=)
c.1816G= (p.Val606=)
c.1633G= (p.Val545=)
c.3865G= (p.Val1289=)
c.3817G= (p.Val1273=)
c.3586G= (p.Val1196=)
c.3487G= (p.Val1163=)
c.2668G= (p.Val890=)
n.4219G=
13g.51937297C>GCA388020842ATP7Bc.*1650G>C (n.*1650G>C)
c.*2744G>C (n.*2744G>C)
c.3379G>C (p.Val1127Leu)
c.4000G>C (p.Val1334Leu)
c.3667G>C (p.Val1223Leu)
c.3748G>C (p.Val1250Leu)
n.1323G>C
c.3766G>C (p.Val1256Leu)
n.4139G>C
n.866G>C
c.2935G>C (p.Val979Leu)
c.2710G>C (p.Val904Leu)
c.3805G>C (p.Val1269Leu)
c.1778G>C
c.*1101G>C (n.*1101G>C)
n.4744G>C
n.3345G>C
c.3856G>C (p.Val1286Leu)
c.3904G>C (p.Val1302Leu)
c.3964G>C (p.Val1322Leu)
c.3514G>C (p.Val1172Leu)
c.1816G>C (p.Val606Leu)
c.1633G>C (p.Val545Leu)
c.3865G>C (p.Val1289Leu)
c.3817G>C (p.Val1273Leu)
c.3586G>C (p.Val1196Leu)
c.3487G>C (p.Val1163Leu)
c.2668G>C (p.Val890Leu)
n.4219G>C
 dbSNP
13g.51937297C>TCA388020836ATP7Bc.*1650G>A (n.*1650G>A)
c.*2744G>A (n.*2744G>A)
c.3379G>A (p.Val1127Ile)
c.4000G>A (p.Val1334Ile)
c.3667G>A (p.Val1223Ile)
c.3748G>A (p.Val1250Ile)
n.1323G>A
c.3766G>A (p.Val1256Ile)
n.4139G>A
n.866G>A
c.2935G>A (p.Val979Ile)
c.2710G>A (p.Val904Ile)
c.3805G>A (p.Val1269Ile)
c.1778G>A
c.*1101G>A (n.*1101G>A)
n.4744G>A
n.3345G>A
c.3856G>A (p.Val1286Ile)
c.3904G>A (p.Val1302Ile)
c.3964G>A (p.Val1322Ile)
c.3514G>A (p.Val1172Ile)
c.1816G>A (p.Val606Ile)
c.1633G>A (p.Val545Ile)
c.3865G>A (p.Val1289Ile)
c.3817G>A (p.Val1273Ile)
c.3586G>A (p.Val1196Ile)
c.3487G>A (p.Val1163Ile)
c.2668G>A (p.Val890Ile)
n.4219G>A
13g.51937298C>ACA250073339ATP7Bc.*1649G>T (n.*1649G>T)
c.*2743G>T (n.*2743G>T)
c.3378G>T (p.Leu1126=)
c.3999G>T (p.Leu1333=)
c.3666G>T (p.Leu1222=)
c.3747G>T (p.Leu1249=)
n.1322G>T
c.3765G>T (p.Leu1255=)
n.4138G>T
n.865G>T
c.2934G>T (p.Leu978=)
c.2709G>T (p.Leu903=)
c.3804G>T (p.Leu1268=)
c.1777G>T
c.*1100G>T (n.*1100G>T)
n.4743G>T
n.3344G>T
c.3855G>T (p.Leu1285=)
c.3903G>T (p.Leu1301=)
c.3963G>T (p.Leu1321=)
c.3513G>T (p.Leu1171=)
c.1815G>T (p.Leu605=)
c.1632G>T (p.Leu544=)
c.3864G>T (p.Leu1288=)
c.3816G>T (p.Leu1272=)
c.3585G>T (p.Leu1195=)
c.3486G>T (p.Leu1162=)
c.2667G>T (p.Leu889=)
n.4218G>T
 dbSNP
13g.51937298C=CA2091553344ATP7Bc.*1649G= (n.*1649G=)
c.*2743G= (n.*2743G=)
c.3378G= (p.Leu1126=)
c.3999G= (p.Leu1333=)
c.3666G= (p.Leu1222=)
c.3747G= (p.Leu1249=)
n.1322G=
c.3765G= (p.Leu1255=)
n.4138G=
n.865G=
c.2934G= (p.Leu978=)
c.2709G= (p.Leu903=)
c.3804G= (p.Leu1268=)
c.1777G=
c.*1100G= (n.*1100G=)
n.4743G=
n.3344G=
c.3855G= (p.Leu1285=)
c.3903G= (p.Leu1301=)
c.3963G= (p.Leu1321=)
c.3513G= (p.Leu1171=)
c.1815G= (p.Leu605=)
c.1632G= (p.Leu544=)
c.3864G= (p.Leu1288=)
c.3816G= (p.Leu1272=)
c.3585G= (p.Leu1195=)
c.3486G= (p.Leu1162=)
c.2667G= (p.Leu889=)
n.4218G=
13g.51937298C>GCA483893467ATP7Bc.*1649G>C (n.*1649G>C)
c.*2743G>C (n.*2743G>C)
c.3378G>C (p.Leu1126=)
c.3999G>C (p.Leu1333=)
c.3666G>C (p.Leu1222=)
c.3747G>C (p.Leu1249=)
n.1322G>C
c.3765G>C (p.Leu1255=)
n.4138G>C
n.865G>C
c.2934G>C (p.Leu978=)
c.2709G>C (p.Leu903=)
c.3804G>C (p.Leu1268=)
c.1777G>C
c.*1100G>C (n.*1100G>C)
n.4743G>C
n.3344G>C
c.3855G>C (p.Leu1285=)
c.3903G>C (p.Leu1301=)
c.3963G>C (p.Leu1321=)
c.3513G>C (p.Leu1171=)
c.1815G>C (p.Leu605=)
c.1632G>C (p.Leu544=)
c.3864G>C (p.Leu1288=)
c.3816G>C (p.Leu1272=)
c.3585G>C (p.Leu1195=)
c.3486G>C (p.Leu1162=)
c.2667G>C (p.Leu889=)
n.4218G>C
 ClinVar dbSNP
13g.51937298C>TCA6988521ATP7Bc.*1649G>A (n.*1649G>A)
c.*2743G>A (n.*2743G>A)
c.3378G>A (p.Leu1126=)
c.3999G>A (p.Leu1333=)
c.3666G>A (p.Leu1222=)
c.3747G>A (p.Leu1249=)
n.1322G>A
c.3765G>A (p.Leu1255=)
n.4138G>A
n.865G>A
c.2934G>A (p.Leu978=)
c.2709G>A (p.Leu903=)
c.3804G>A (p.Leu1268=)
c.1777G>A
c.*1100G>A (n.*1100G>A)
n.4743G>A
n.3344G>A
c.3855G>A (p.Leu1285=)
c.3903G>A (p.Leu1301=)
c.3963G>A (p.Leu1321=)
c.3513G>A (p.Leu1171=)
c.1815G>A (p.Leu605=)
c.1632G>A (p.Leu544=)
c.3864G>A (p.Leu1288=)
c.3816G>A (p.Leu1272=)
c.3585G>A (p.Leu1195=)
c.3486G>A (p.Leu1162=)
c.2667G>A (p.Leu889=)
n.4218G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51937299A>CCA388020849ATP7Bc.*1648T>G (n.*1648T>G)
c.*2742T>G (n.*2742T>G)
c.3377T>G (p.Leu1126Arg)
c.3998T>G (p.Leu1333Arg)
c.3665T>G (p.Leu1222Arg)
c.3746T>G (p.Leu1249Arg)
n.1321T>G
c.3764T>G (p.Leu1255Arg)
n.4137T>G
n.864T>G
c.2933T>G (p.Leu978Arg)
c.2708T>G (p.Leu903Arg)
c.3803T>G (p.Leu1268Arg)
c.1776T>G
c.*1099T>G (n.*1099T>G)
n.4742T>G
n.3343T>G
c.3854T>G (p.Leu1285Arg)
c.3902T>G (p.Leu1301Arg)
c.3962T>G (p.Leu1321Arg)
c.3512T>G (p.Leu1171Arg)
c.1814T>G (p.Leu605Arg)
c.1631T>G (p.Leu544Arg)
c.3863T>G (p.Leu1288Arg)
c.3815T>G (p.Leu1272Arg)
c.3584T>G (p.Leu1195Arg)
c.3485T>G (p.Leu1162Arg)
c.2666T>G (p.Leu889Arg)
n.4217T>G
13g.51937299A>GCA388020847ATP7Bc.*1648T>C (n.*1648T>C)
c.*2742T>C (n.*2742T>C)
c.3377T>C (p.Leu1126Pro)
c.3998T>C (p.Leu1333Pro)
c.3665T>C (p.Leu1222Pro)
c.3746T>C (p.Leu1249Pro)
n.1321T>C
c.3764T>C (p.Leu1255Pro)
n.4137T>C
n.864T>C
c.2933T>C (p.Leu978Pro)
c.2708T>C (p.Leu903Pro)
c.3803T>C (p.Leu1268Pro)
c.1776T>C
c.*1099T>C (n.*1099T>C)
n.4742T>C
n.3343T>C
c.3854T>C (p.Leu1285Pro)
c.3902T>C (p.Leu1301Pro)
c.3962T>C (p.Leu1321Pro)
c.3512T>C (p.Leu1171Pro)
c.1814T>C (p.Leu605Pro)
c.1631T>C (p.Leu544Pro)
c.3863T>C (p.Leu1288Pro)
c.3815T>C (p.Leu1272Pro)
c.3584T>C (p.Leu1195Pro)
c.3485T>C (p.Leu1162Pro)
c.2666T>C (p.Leu889Pro)
n.4217T>C
13g.51937299A>TCA388020848ATP7Bc.*1648T>A (n.*1648T>A)
c.*2742T>A (n.*2742T>A)
c.3377T>A (p.Leu1126Gln)
c.3998T>A (p.Leu1333Gln)
c.3665T>A (p.Leu1222Gln)
c.3746T>A (p.Leu1249Gln)
n.1321T>A
c.3764T>A (p.Leu1255Gln)
n.4137T>A
n.864T>A
c.2933T>A (p.Leu978Gln)
c.2708T>A (p.Leu903Gln)
c.3803T>A (p.Leu1268Gln)
c.1776T>A
c.*1099T>A (n.*1099T>A)
n.4742T>A
n.3343T>A
c.3854T>A (p.Leu1285Gln)
c.3902T>A (p.Leu1301Gln)
c.3962T>A (p.Leu1321Gln)
c.3512T>A (p.Leu1171Gln)
c.1814T>A (p.Leu605Gln)
c.1631T>A (p.Leu544Gln)
c.3863T>A (p.Leu1288Gln)
c.3815T>A (p.Leu1272Gln)
c.3584T>A (p.Leu1195Gln)
c.3485T>A (p.Leu1162Gln)
c.2666T>A (p.Leu889Gln)
n.4217T>A
13g.51937300G>ACA483893468ATP7Bc.*1647C>T (n.*1647C>T)
c.*2741C>T (n.*2741C>T)
c.3376C>T (p.Leu1126=)
c.3997C>T (p.Leu1333=)
c.3664C>T (p.Leu1222=)
c.3745C>T (p.Leu1249=)
n.1320C>T
c.3763C>T (p.Leu1255=)
n.4136C>T
n.863C>T
c.2932C>T (p.Leu978=)
c.2707C>T (p.Leu903=)
c.3802C>T (p.Leu1268=)
c.1775C>T
c.*1098C>T (n.*1098C>T)
n.4741C>T
n.3342C>T
c.3853C>T (p.Leu1285=)
c.3901C>T (p.Leu1301=)
c.3961C>T (p.Leu1321=)
c.3511C>T (p.Leu1171=)
c.1813C>T (p.Leu605=)
c.1630C>T (p.Leu544=)
c.3862C>T (p.Leu1288=)
c.3814C>T (p.Leu1272=)
c.3583C>T (p.Leu1195=)
c.3484C>T (p.Leu1162=)
c.2665C>T (p.Leu889=)
n.4216C>T
13g.51937300G>CCA388020850ATP7Bc.*1647C>G (n.*1647C>G)
c.*2741C>G (n.*2741C>G)
c.3376C>G (p.Leu1126Val)
c.3997C>G (p.Leu1333Val)
c.3664C>G (p.Leu1222Val)
c.3745C>G (p.Leu1249Val)
n.1320C>G
c.3763C>G (p.Leu1255Val)
n.4136C>G
n.863C>G
c.2932C>G (p.Leu978Val)
c.2707C>G (p.Leu903Val)
c.3802C>G (p.Leu1268Val)
c.1775C>G
c.*1098C>G (n.*1098C>G)
n.4741C>G
n.3342C>G
c.3853C>G (p.Leu1285Val)
c.3901C>G (p.Leu1301Val)
c.3961C>G (p.Leu1321Val)
c.3511C>G (p.Leu1171Val)
c.1813C>G (p.Leu605Val)
c.1630C>G (p.Leu544Val)
c.3862C>G (p.Leu1288Val)
c.3814C>G (p.Leu1272Val)
c.3583C>G (p.Leu1195Val)
c.3484C>G (p.Leu1162Val)
c.2665C>G (p.Leu889Val)
n.4216C>G
 dbSNP gnomAD v4
13g.51937300G>TCA388020851ATP7Bc.*1647C>A (n.*1647C>A)
c.*2741C>A (n.*2741C>A)
c.3376C>A (p.Leu1126Met)
c.3997C>A (p.Leu1333Met)
c.3664C>A (p.Leu1222Met)
c.3745C>A (p.Leu1249Met)
n.1320C>A
c.3763C>A (p.Leu1255Met)
n.4136C>A
n.863C>A
c.2932C>A (p.Leu978Met)
c.2707C>A (p.Leu903Met)
c.3802C>A (p.Leu1268Met)
c.1775C>A
c.*1098C>A (n.*1098C>A)
n.4741C>A
n.3342C>A
c.3853C>A (p.Leu1285Met)
c.3901C>A (p.Leu1301Met)
c.3961C>A (p.Leu1321Met)
c.3511C>A (p.Leu1171Met)
c.1813C>A (p.Leu605Met)
c.1630C>A (p.Leu544Met)
c.3862C>A (p.Leu1288Met)
c.3814C>A (p.Leu1272Met)
c.3583C>A (p.Leu1195Met)
c.3484C>A (p.Leu1162Met)
c.2665C>A (p.Leu889Met)
n.4216C>A
13g.51937301G>ACA483893469ATP7Bc.*1646C>T (n.*1646C>T)
c.*2740C>T (n.*2740C>T)
c.3375C>T (p.Asn1125=)
c.3996C>T (p.Asn1332=)
c.3663C>T (p.Asn1221=)
c.3744C>T (p.Asn1248=)
n.1319C>T
c.3762C>T (p.Asn1254=)
n.4135C>T
n.862C>T
c.2931C>T (p.Asn977=)
c.2706C>T (p.Asn902=)
c.3801C>T (p.Asn1267=)
c.1774C>T
c.*1097C>T (n.*1097C>T)
n.4740C>T
n.3341C>T
c.3852C>T (p.Asn1284=)
c.3900C>T (p.Asn1300=)
c.3960C>T (p.Asn1320=)
c.3510C>T (p.Asn1170=)
c.1812C>T (p.Asn604=)
c.1629C>T (p.Asn543=)
c.3861C>T (p.Asn1287=)
c.3813C>T (p.Asn1271=)
c.3582C>T (p.Asn1194=)
c.3483C>T (p.Asn1161=)
c.2664C>T (p.Asn888=)
n.4215C>T
 ClinVar dbSNP gnomAD v4
13g.51937301G>CCA388020853ATP7Bc.*1646C>G (n.*1646C>G)
c.*2740C>G (n.*2740C>G)
c.3375C>G (p.Asn1125Lys)
c.3996C>G (p.Asn1332Lys)
c.3663C>G (p.Asn1221Lys)
c.3744C>G (p.Asn1248Lys)
n.1319C>G
c.3762C>G (p.Asn1254Lys)
n.4135C>G
n.862C>G
c.2931C>G (p.Asn977Lys)
c.2706C>G (p.Asn902Lys)
c.3801C>G (p.Asn1267Lys)
c.1774C>G
c.*1097C>G (n.*1097C>G)
n.4740C>G
n.3341C>G
c.3852C>G (p.Asn1284Lys)
c.3900C>G (p.Asn1300Lys)
c.3960C>G (p.Asn1320Lys)
c.3510C>G (p.Asn1170Lys)
c.1812C>G (p.Asn604Lys)
c.1629C>G (p.Asn543Lys)
c.3861C>G (p.Asn1287Lys)
c.3813C>G (p.Asn1271Lys)
c.3582C>G (p.Asn1194Lys)
c.3483C>G (p.Asn1161Lys)
c.2664C>G (p.Asn888Lys)
n.4215C>G
13g.51937301G>TCA388020854ATP7Bc.*1646C>A (n.*1646C>A)
c.*2740C>A (n.*2740C>A)
c.3375C>A (p.Asn1125Lys)
c.3996C>A (p.Asn1332Lys)
c.3663C>A (p.Asn1221Lys)
c.3744C>A (p.Asn1248Lys)
n.1319C>A
c.3762C>A (p.Asn1254Lys)
n.4135C>A
n.862C>A
c.2931C>A (p.Asn977Lys)
c.2706C>A (p.Asn902Lys)
c.3801C>A (p.Asn1267Lys)
c.1774C>A
c.*1097C>A (n.*1097C>A)
n.4740C>A
n.3341C>A
c.3852C>A (p.Asn1284Lys)
c.3900C>A (p.Asn1300Lys)
c.3960C>A (p.Asn1320Lys)
c.3510C>A (p.Asn1170Lys)
c.1812C>A (p.Asn604Lys)
c.1629C>A (p.Asn543Lys)
c.3861C>A (p.Asn1287Lys)
c.3813C>A (p.Asn1271Lys)
c.3582C>A (p.Asn1194Lys)
c.3483C>A (p.Asn1161Lys)
c.2664C>A (p.Asn888Lys)
n.4215C>A
13g.51937302T>ACA388020857ATP7Bc.*1645A>T (n.*1645A>T)
c.*2739A>T (n.*2739A>T)
c.3374A>T (p.Asn1125Ile)
c.3995A>T (p.Asn1332Ile)
c.3662A>T (p.Asn1221Ile)
c.3743A>T (p.Asn1248Ile)
n.1318A>T
c.3761A>T (p.Asn1254Ile)
n.4134A>T
n.861A>T
c.2930A>T (p.Asn977Ile)
c.2705A>T (p.Asn902Ile)
c.3800A>T (p.Asn1267Ile)
c.1773A>T
c.*1096A>T (n.*1096A>T)
n.4739A>T
n.3340A>T
c.3851A>T (p.Asn1284Ile)
c.3899A>T (p.Asn1300Ile)
c.3959A>T (p.Asn1320Ile)
c.3509A>T (p.Asn1170Ile)
c.1811A>T (p.Asn604Ile)
c.1628A>T (p.Asn543Ile)
c.3860A>T (p.Asn1287Ile)
c.3812A>T (p.Asn1271Ile)
c.3581A>T (p.Asn1194Ile)
c.3482A>T (p.Asn1161Ile)
c.2663A>T (p.Asn888Ile)
n.4214A>T
13g.51937302T>CCA388020858ATP7Bc.*1645A>G (n.*1645A>G)
c.*2739A>G (n.*2739A>G)
c.3374A>G (p.Asn1125Ser)
c.3995A>G (p.Asn1332Ser)
c.3662A>G (p.Asn1221Ser)
c.3743A>G (p.Asn1248Ser)
n.1318A>G
c.3761A>G (p.Asn1254Ser)
n.4134A>G
n.861A>G
c.2930A>G (p.Asn977Ser)
c.2705A>G (p.Asn902Ser)
c.3800A>G (p.Asn1267Ser)
c.1773A>G
c.*1096A>G (n.*1096A>G)
n.4739A>G
n.3340A>G
c.3851A>G (p.Asn1284Ser)
c.3899A>G (p.Asn1300Ser)
c.3959A>G (p.Asn1320Ser)
c.3509A>G (p.Asn1170Ser)
c.1811A>G (p.Asn604Ser)
c.1628A>G (p.Asn543Ser)
c.3860A>G (p.Asn1287Ser)
c.3812A>G (p.Asn1271Ser)
c.3581A>G (p.Asn1194Ser)
c.3482A>G (p.Asn1161Ser)
c.2663A>G (p.Asn888Ser)
n.4214A>G
13g.51937302T>GCA388020860ATP7Bc.*1645A>C (n.*1645A>C)
c.*2739A>C (n.*2739A>C)
c.3374A>C (p.Asn1125Thr)
c.3995A>C (p.Asn1332Thr)
c.3662A>C (p.Asn1221Thr)
c.3743A>C (p.Asn1248Thr)
n.1318A>C
c.3761A>C (p.Asn1254Thr)
n.4134A>C
n.861A>C
c.2930A>C (p.Asn977Thr)
c.2705A>C (p.Asn902Thr)
c.3800A>C (p.Asn1267Thr)
c.1773A>C
c.*1096A>C (n.*1096A>C)
n.4739A>C
n.3340A>C
c.3851A>C (p.Asn1284Thr)
c.3899A>C (p.Asn1300Thr)
c.3959A>C (p.Asn1320Thr)
c.3509A>C (p.Asn1170Thr)
c.1811A>C (p.Asn604Thr)
c.1628A>C (p.Asn543Thr)
c.3860A>C (p.Asn1287Thr)
c.3812A>C (p.Asn1271Thr)
c.3581A>C (p.Asn1194Thr)
c.3482A>C (p.Asn1161Thr)
c.2663A>C (p.Asn888Thr)
n.4214A>C
13g.51937303T>ACA388020863ATP7Bc.*1644A>T (n.*1644A>T)
c.*2738A>T (n.*2738A>T)
c.3373A>T (p.Asn1125Tyr)
c.3994A>T (p.Asn1332Tyr)
c.3661A>T (p.Asn1221Tyr)
c.3742A>T (p.Asn1248Tyr)
n.1317A>T
c.3760A>T (p.Asn1254Tyr)
n.4133A>T
n.860A>T
c.2929A>T (p.Asn977Tyr)
c.2704A>T (p.Asn902Tyr)
c.3799A>T (p.Asn1267Tyr)
c.1772A>T
c.*1095A>T (n.*1095A>T)
n.4738A>T
n.3339A>T
c.3850A>T (p.Asn1284Tyr)
c.3898A>T (p.Asn1300Tyr)
c.3958A>T (p.Asn1320Tyr)
c.3508A>T (p.Asn1170Tyr)
c.1810A>T (p.Asn604Tyr)
c.1627A>T (p.Asn543Tyr)
c.3859A>T (p.Asn1287Tyr)
c.3811A>T (p.Asn1271Tyr)
c.3580A>T (p.Asn1194Tyr)
c.3481A>T (p.Asn1161Tyr)
c.2662A>T (p.Asn888Tyr)
n.4213A>T
 gnomAD v4
13g.51937303T>CCA388020866ATP7Bc.*1644A>G (n.*1644A>G)
c.*2738A>G (n.*2738A>G)
c.3373A>G (p.Asn1125Asp)
c.3994A>G (p.Asn1332Asp)
c.3661A>G (p.Asn1221Asp)
c.3742A>G (p.Asn1248Asp)
n.1317A>G
c.3760A>G (p.Asn1254Asp)
n.4133A>G
n.860A>G
c.2929A>G (p.Asn977Asp)
c.2704A>G (p.Asn902Asp)
c.3799A>G (p.Asn1267Asp)
c.1772A>G
c.*1095A>G (n.*1095A>G)
n.4738A>G
n.3339A>G
c.3850A>G (p.Asn1284Asp)
c.3898A>G (p.Asn1300Asp)
c.3958A>G (p.Asn1320Asp)
c.3508A>G (p.Asn1170Asp)
c.1810A>G (p.Asn604Asp)
c.1627A>G (p.Asn543Asp)
c.3859A>G (p.Asn1287Asp)
c.3811A>G (p.Asn1271Asp)
c.3580A>G (p.Asn1194Asp)
c.3481A>G (p.Asn1161Asp)
c.2662A>G (p.Asn888Asp)
n.4213A>G
13g.51937303T>GCA388020869ATP7Bc.*1644A>C (n.*1644A>C)
c.*2738A>C (n.*2738A>C)
c.3373A>C (p.Asn1125His)
c.3994A>C (p.Asn1332His)
c.3661A>C (p.Asn1221His)
c.3742A>C (p.Asn1248His)
n.1317A>C
c.3760A>C (p.Asn1254His)
n.4133A>C
n.860A>C
c.2929A>C (p.Asn977His)
c.2704A>C (p.Asn902His)
c.3799A>C (p.Asn1267His)
c.1772A>C
c.*1095A>C (n.*1095A>C)
n.4738A>C
n.3339A>C
c.3850A>C (p.Asn1284His)
c.3898A>C (p.Asn1300His)
c.3958A>C (p.Asn1320His)
c.3508A>C (p.Asn1170His)
c.1810A>C (p.Asn604His)
c.1627A>C (p.Asn543His)
c.3859A>C (p.Asn1287His)
c.3811A>C (p.Asn1271His)
c.3580A>C (p.Asn1194His)
c.3481A>C (p.Asn1161His)
c.2662A>C (p.Asn888His)
n.4213A>C
13g.51937303_51937307delinsTATAACA2091553350ATP7Bc.*1640_*1644delinsTTATA (n.*1640_*1644delinsTTATA)
c.*2734_*2738delinsTTATA (n.*2734_*2738delinsTTATA)
c.3369_3373delinsTTATA (p.Ile1123=)
c.3990_3994delinsTTATA (p.Ile1330=)
c.3657_3661delinsTTATA (p.Ile1219=)
c.3738_3742delinsTTATA (p.Ile1246=)
n.1313_1317delinsTTATA
c.3756_3760delinsTTATA (p.Ile1252=)
n.4129_4133delinsTTATA
n.856_860delinsTTATA
c.2925_2929delinsTTATA (p.Ile975=)
c.2700_2704delinsTTATA (p.Ile900=)
c.3795_3799delinsTTATA (p.Ile1265=)
c.1768_1772delinsTTATA
c.*1091_*1095delinsTTATA (n.*1091_*1095delinsTTATA)
n.4734_4738delinsTTATA
n.3335_3339delinsTTATA
c.3846_3850delinsTTATA (p.Ile1282=)
c.3894_3898delinsTTATA (p.Ile1298=)
c.3954_3958delinsTTATA (p.Ile1318=)
c.3504_3508delinsTTATA (p.Ile1168=)
c.1806_1810delinsTTATA (p.Ile602=)
c.1623_1627delinsTTATA (p.Ile541=)
c.3855_3859delinsTTATA (p.Ile1285=)
c.3807_3811delinsTTATA (p.Ile1269=)
c.3576_3580delinsTTATA (p.Ile1192=)
c.3477_3481delinsTTATA (p.Ile1159=)
c.2658_2662delinsTTATA (p.Ile886=)
n.4209_4213delinsTTATA
13g.51937304A>CCA388020874ATP7Bc.*1643T>G (n.*1643T>G)
c.*2737T>G (n.*2737T>G)
c.3372T>G (p.Tyr1124Ter)
c.3993T>G (p.Tyr1331Ter)
c.3660T>G (p.Tyr1220Ter)
c.3741T>G (p.Tyr1247Ter)
n.1316T>G
c.3759T>G (p.Tyr1253Ter)
n.4132T>G
n.859T>G
c.2928T>G (p.Tyr976Ter)
c.2703T>G (p.Tyr901Ter)
c.3798T>G (p.Tyr1266Ter)
c.1771T>G
c.*1094T>G (n.*1094T>G)
n.4737T>G
n.3338T>G
c.3849T>G (p.Tyr1283Ter)
c.3897T>G (p.Tyr1299Ter)
c.3957T>G (p.Tyr1319Ter)
c.3507T>G (p.Tyr1169Ter)
c.1809T>G (p.Tyr603Ter)
c.1626T>G (p.Tyr542Ter)
c.3858T>G (p.Tyr1286Ter)
c.3810T>G (p.Tyr1270Ter)
c.3579T>G (p.Tyr1193Ter)
c.3480T>G (p.Tyr1160Ter)
c.2661T>G (p.Tyr887Ter)
n.4212T>G
13g.51937304A>GCA483893471ATP7Bc.*1643T>C (n.*1643T>C)
c.*2737T>C (n.*2737T>C)
c.3372T>C (p.Tyr1124=)
c.3993T>C (p.Tyr1331=)
c.3660T>C (p.Tyr1220=)
c.3741T>C (p.Tyr1247=)
n.1316T>C
c.3759T>C (p.Tyr1253=)
n.4132T>C
n.859T>C
c.2928T>C (p.Tyr976=)
c.2703T>C (p.Tyr901=)
c.3798T>C (p.Tyr1266=)
c.1771T>C
c.*1094T>C (n.*1094T>C)
n.4737T>C
n.3338T>C
c.3849T>C (p.Tyr1283=)
c.3897T>C (p.Tyr1299=)
c.3957T>C (p.Tyr1319=)
c.3507T>C (p.Tyr1169=)
c.1809T>C (p.Tyr603=)
c.1626T>C (p.Tyr542=)
c.3858T>C (p.Tyr1286=)
c.3810T>C (p.Tyr1270=)
c.3579T>C (p.Tyr1193=)
c.3480T>C (p.Tyr1160=)
c.2661T>C (p.Tyr887=)
n.4212T>C
13g.51937304A>TCA388020872ATP7Bc.*1643T>A (n.*1643T>A)
c.*2737T>A (n.*2737T>A)
c.3372T>A (p.Tyr1124Ter)
c.3993T>A (p.Tyr1331Ter)
c.3660T>A (p.Tyr1220Ter)
c.3741T>A (p.Tyr1247Ter)
n.1316T>A
c.3759T>A (p.Tyr1253Ter)
n.4132T>A
n.859T>A
c.2928T>A (p.Tyr976Ter)
c.2703T>A (p.Tyr901Ter)
c.3798T>A (p.Tyr1266Ter)
c.1771T>A
c.*1094T>A (n.*1094T>A)
n.4737T>A
n.3338T>A
c.3849T>A (p.Tyr1283Ter)
c.3897T>A (p.Tyr1299Ter)
c.3957T>A (p.Tyr1319Ter)
c.3507T>A (p.Tyr1169Ter)
c.1809T>A (p.Tyr603Ter)
c.1626T>A (p.Tyr542Ter)
c.3858T>A (p.Tyr1286Ter)
c.3810T>A (p.Tyr1270Ter)
c.3579T>A (p.Tyr1193Ter)
c.3480T>A (p.Tyr1160Ter)
c.2661T>A (p.Tyr887Ter)
n.4212T>A
13g.51937306_51937309delCA483893470ATP7Bc.*1640_*1643del (n.*1640_*1643del)
c.*2734_*2737del (n.*2734_*2737del)
c.3369_3372del (p.Tyr1124ThrfsTer?)
c.3990_3993del (p.Tyr1331ThrfsTer?)
c.3657_3660del (p.Tyr1220ThrfsTer?)
c.3738_3741del (p.Tyr1247ThrfsTer?)
n.1313_1316del
c.3756_3759del (p.Tyr1253ThrfsTer?)
n.4129_4132del
n.856_859del
c.2925_2928del (p.Tyr976ThrfsTer?)
c.2700_2703del (p.Tyr901ThrfsTer?)
c.3795_3798del (p.Tyr1266ThrfsTer?)
c.1768_1771del
c.*1091_*1094del (n.*1091_*1094del)
n.4734_4737del
n.3335_3338del
c.3846_3849del (p.Tyr1283ThrfsTer?)
c.3894_3897del (p.Tyr1299ThrfsTer?)
c.3954_3957del (p.Tyr1319ThrfsTer?)
c.3504_3507del (p.Tyr1169ThrfsTer?)
c.1806_1809del (p.Tyr603ThrfsTer?)
c.1623_1626del (p.Tyr542ThrfsTer?)
c.3855_3858del (p.Tyr1286ThrfsTer?)
c.3807_3810del (p.Tyr1270ThrfsTer?)
c.3576_3579del (p.Tyr1193ThrfsTer?)
c.3477_3480del (p.Tyr1160ThrfsTer?)
c.2658_2661del (p.Tyr887ThrfsTer?)
n.4209_4212del
 ClinVar dbSNP gnomAD v4
13g.51937305T>ACA388020877ATP7Bc.*1642A>T (n.*1642A>T)
c.*2736A>T (n.*2736A>T)
c.3371A>T (p.Tyr1124Phe)
c.3992A>T (p.Tyr1331Phe)
c.3659A>T (p.Tyr1220Phe)
c.3740A>T (p.Tyr1247Phe)
n.1315A>T
c.3758A>T (p.Tyr1253Phe)
n.4131A>T
n.858A>T
c.2927A>T (p.Tyr976Phe)
c.2702A>T (p.Tyr901Phe)
c.3797A>T (p.Tyr1266Phe)
c.1770A>T
c.*1093A>T (n.*1093A>T)
n.4736A>T
n.3337A>T
c.3848A>T (p.Tyr1283Phe)
c.3896A>T (p.Tyr1299Phe)
c.3956A>T (p.Tyr1319Phe)
c.3506A>T (p.Tyr1169Phe)
c.1808A>T (p.Tyr603Phe)
c.1625A>T (p.Tyr542Phe)
c.3857A>T (p.Tyr1286Phe)
c.3809A>T (p.Tyr1270Phe)
c.3578A>T (p.Tyr1193Phe)
c.3479A>T (p.Tyr1160Phe)
c.2660A>T (p.Tyr887Phe)
n.4211A>T
13g.51937305T>CCA388020878ATP7Bc.*1642A>G (n.*1642A>G)
c.*2736A>G (n.*2736A>G)
c.3371A>G (p.Tyr1124Cys)
c.3992A>G (p.Tyr1331Cys)
c.3659A>G (p.Tyr1220Cys)
c.3740A>G (p.Tyr1247Cys)
n.1315A>G
c.3758A>G (p.Tyr1253Cys)
n.4131A>G
n.858A>G
c.2927A>G (p.Tyr976Cys)
c.2702A>G (p.Tyr901Cys)
c.3797A>G (p.Tyr1266Cys)
c.1770A>G
c.*1093A>G (n.*1093A>G)
n.4736A>G
n.3337A>G
c.3848A>G (p.Tyr1283Cys)
c.3896A>G (p.Tyr1299Cys)
c.3956A>G (p.Tyr1319Cys)
c.3506A>G (p.Tyr1169Cys)
c.1808A>G (p.Tyr603Cys)
c.1625A>G (p.Tyr542Cys)
c.3857A>G (p.Tyr1286Cys)
c.3809A>G (p.Tyr1270Cys)
c.3578A>G (p.Tyr1193Cys)
c.3479A>G (p.Tyr1160Cys)
c.2660A>G (p.Tyr887Cys)
n.4211A>G
 gnomAD v4
13g.51937305T>GCA388020881ATP7Bc.*1642A>C (n.*1642A>C)
c.*2736A>C (n.*2736A>C)
c.3371A>C (p.Tyr1124Ser)
c.3992A>C (p.Tyr1331Ser)
c.3659A>C (p.Tyr1220Ser)
c.3740A>C (p.Tyr1247Ser)
n.1315A>C
c.3758A>C (p.Tyr1253Ser)
n.4131A>C
n.858A>C
c.2927A>C (p.Tyr976Ser)
c.2702A>C (p.Tyr901Ser)
c.3797A>C (p.Tyr1266Ser)
c.1770A>C
c.*1093A>C (n.*1093A>C)
n.4736A>C
n.3337A>C
c.3848A>C (p.Tyr1283Ser)
c.3896A>C (p.Tyr1299Ser)
c.3956A>C (p.Tyr1319Ser)
c.3506A>C (p.Tyr1169Ser)
c.1808A>C (p.Tyr603Ser)
c.1625A>C (p.Tyr542Ser)
c.3857A>C (p.Tyr1286Ser)
c.3809A>C (p.Tyr1270Ser)
c.3578A>C (p.Tyr1193Ser)
c.3479A>C (p.Tyr1160Ser)
c.2660A>C (p.Tyr887Ser)
n.4211A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51937305T=CA2091553367ATP7Bc.*1642A= (n.*1642A=)
c.*2736A= (n.*2736A=)
c.3371A= (p.Tyr1124=)
c.3992A= (p.Tyr1331=)
c.3659A= (p.Tyr1220=)
c.3740A= (p.Tyr1247=)
n.1315A=
c.3758A= (p.Tyr1253=)
n.4131A=
n.858A=
c.2927A= (p.Tyr976=)
c.2702A= (p.Tyr901=)
c.3797A= (p.Tyr1266=)
c.1770A=
c.*1093A= (n.*1093A=)
n.4736A=
n.3337A=
c.3848A= (p.Tyr1283=)
c.3896A= (p.Tyr1299=)
c.3956A= (p.Tyr1319=)
c.3506A= (p.Tyr1169=)
c.1808A= (p.Tyr603=)
c.1625A= (p.Tyr542=)
c.3857A= (p.Tyr1286=)
c.3809A= (p.Tyr1270=)
c.3578A= (p.Tyr1193=)
c.3479A= (p.Tyr1160=)
c.2660A= (p.Tyr887=)
n.4211A=
13g.51937306A>CCA388020885ATP7Bc.*1641T>G (n.*1641T>G)
c.*2735T>G (n.*2735T>G)
c.3370T>G (p.Tyr1124Asp)
c.3991T>G (p.Tyr1331Asp)
c.3658T>G (p.Tyr1220Asp)
c.3739T>G (p.Tyr1247Asp)
n.1314T>G
c.3757T>G (p.Tyr1253Asp)
n.4130T>G
n.857T>G
c.2926T>G (p.Tyr976Asp)
c.2701T>G (p.Tyr901Asp)
c.3796T>G (p.Tyr1266Asp)
c.1769T>G
c.*1092T>G (n.*1092T>G)
n.4735T>G
n.3336T>G
c.3847T>G (p.Tyr1283Asp)
c.3895T>G (p.Tyr1299Asp)
c.3955T>G (p.Tyr1319Asp)
c.3505T>G (p.Tyr1169Asp)
c.1807T>G (p.Tyr603Asp)
c.1624T>G (p.Tyr542Asp)
c.3856T>G (p.Tyr1286Asp)
c.3808T>G (p.Tyr1270Asp)
c.3577T>G (p.Tyr1193Asp)
c.3478T>G (p.Tyr1160Asp)
c.2659T>G (p.Tyr887Asp)
n.4210T>G
13g.51937306A>GCA388020891ATP7Bc.*1641T>C (n.*1641T>C)
c.*2735T>C (n.*2735T>C)
c.3370T>C (p.Tyr1124His)
c.3991T>C (p.Tyr1331His)
c.3658T>C (p.Tyr1220His)
c.3739T>C (p.Tyr1247His)
n.1314T>C
c.3757T>C (p.Tyr1253His)
n.4130T>C
n.857T>C
c.2926T>C (p.Tyr976His)
c.2701T>C (p.Tyr901His)
c.3796T>C (p.Tyr1266His)
c.1769T>C
c.*1092T>C (n.*1092T>C)
n.4735T>C
n.3336T>C
c.3847T>C (p.Tyr1283His)
c.3895T>C (p.Tyr1299His)
c.3955T>C (p.Tyr1319His)
c.3505T>C (p.Tyr1169His)
c.1807T>C (p.Tyr603His)
c.1624T>C (p.Tyr542His)
c.3856T>C (p.Tyr1286His)
c.3808T>C (p.Tyr1270His)
c.3577T>C (p.Tyr1193His)
c.3478T>C (p.Tyr1160His)
c.2659T>C (p.Tyr887His)
n.4210T>C
13g.51937306A>TCA388020894ATP7Bc.*1641T>A (n.*1641T>A)
c.*2735T>A (n.*2735T>A)
c.3370T>A (p.Tyr1124Asn)
c.3991T>A (p.Tyr1331Asn)
c.3658T>A (p.Tyr1220Asn)
c.3739T>A (p.Tyr1247Asn)
n.1314T>A
c.3757T>A (p.Tyr1253Asn)
n.4130T>A
n.857T>A
c.2926T>A (p.Tyr976Asn)
c.2701T>A (p.Tyr901Asn)
c.3796T>A (p.Tyr1266Asn)
c.1769T>A
c.*1092T>A (n.*1092T>A)
n.4735T>A
n.3336T>A
c.3847T>A (p.Tyr1283Asn)
c.3895T>A (p.Tyr1299Asn)
c.3955T>A (p.Tyr1319Asn)
c.3505T>A (p.Tyr1169Asn)
c.1807T>A (p.Tyr603Asn)
c.1624T>A (p.Tyr542Asn)
c.3856T>A (p.Tyr1286Asn)
c.3808T>A (p.Tyr1270Asn)
c.3577T>A (p.Tyr1193Asn)
c.3478T>A (p.Tyr1160Asn)
c.2659T>A (p.Tyr887Asn)
n.4210T>A
13g.51937307A=CA2091553372ATP7Bc.*1640T= (n.*1640T=)
c.*2734T= (n.*2734T=)
c.3369T= (p.Ile1123=)
c.3990T= (p.Ile1330=)
c.3657T= (p.Ile1219=)
c.3738T= (p.Ile1246=)
n.1313T=
c.3756T= (p.Ile1252=)
n.4129T=
n.856T=
c.2925T= (p.Ile975=)
c.2700T= (p.Ile900=)
c.3795T= (p.Ile1265=)
c.1768T=
c.*1091T= (n.*1091T=)
n.4734T=
n.3335T=
c.3846T= (p.Ile1282=)
c.3894T= (p.Ile1298=)
c.3954T= (p.Ile1318=)
c.3504T= (p.Ile1168=)
c.1806T= (p.Ile602=)
c.1623T= (p.Ile541=)
c.3855T= (p.Ile1285=)
c.3807T= (p.Ile1269=)
c.3576T= (p.Ile1192=)
c.3477T= (p.Ile1159=)
c.2658T= (p.Ile886=)
n.4209T=
13g.51937307A>CCA388020898ATP7Bc.*1640T>G (n.*1640T>G)
c.*2734T>G (n.*2734T>G)
c.3369T>G (p.Ile1123Met)
c.3990T>G (p.Ile1330Met)
c.3657T>G (p.Ile1219Met)
c.3738T>G (p.Ile1246Met)
n.1313T>G
c.3756T>G (p.Ile1252Met)
n.4129T>G
n.856T>G
c.2925T>G (p.Ile975Met)
c.2700T>G (p.Ile900Met)
c.3795T>G (p.Ile1265Met)
c.1768T>G
c.*1091T>G (n.*1091T>G)
n.4734T>G
n.3335T>G
c.3846T>G (p.Ile1282Met)
c.3894T>G (p.Ile1298Met)
c.3954T>G (p.Ile1318Met)
c.3504T>G (p.Ile1168Met)
c.1806T>G (p.Ile602Met)
c.1623T>G (p.Ile541Met)
c.3855T>G (p.Ile1285Met)
c.3807T>G (p.Ile1269Met)
c.3576T>G (p.Ile1192Met)
c.3477T>G (p.Ile1159Met)
c.2658T>G (p.Ile886Met)
n.4209T>G
13g.51937307A>GCA483893473ATP7Bc.*1640T>C (n.*1640T>C)
c.*2734T>C (n.*2734T>C)
c.3369T>C (p.Ile1123=)
c.3990T>C (p.Ile1330=)
c.3657T>C (p.Ile1219=)
c.3738T>C (p.Ile1246=)
n.1313T>C
c.3756T>C (p.Ile1252=)
n.4129T>C
n.856T>C
c.2925T>C (p.Ile975=)
c.2700T>C (p.Ile900=)
c.3795T>C (p.Ile1265=)
c.1768T>C
c.*1091T>C (n.*1091T>C)
n.4734T>C
n.3335T>C
c.3846T>C (p.Ile1282=)
c.3894T>C (p.Ile1298=)
c.3954T>C (p.Ile1318=)
c.3504T>C (p.Ile1168=)
c.1806T>C (p.Ile602=)
c.1623T>C (p.Ile541=)
c.3855T>C (p.Ile1285=)
c.3807T>C (p.Ile1269=)
c.3576T>C (p.Ile1192=)
c.3477T>C (p.Ile1159=)
c.2658T>C (p.Ile886=)
n.4209T>C
 dbSNP gnomAD v4
13g.51937307A>TCA483893472ATP7Bc.*1640T>A (n.*1640T>A)
c.*2734T>A (n.*2734T>A)
c.3369T>A (p.Ile1123=)
c.3990T>A (p.Ile1330=)
c.3657T>A (p.Ile1219=)
c.3738T>A (p.Ile1246=)
n.1313T>A
c.3756T>A (p.Ile1252=)
n.4129T>A
n.856T>A
c.2925T>A (p.Ile975=)
c.2700T>A (p.Ile900=)
c.3795T>A (p.Ile1265=)
c.1768T>A
c.*1091T>A (n.*1091T>A)
n.4734T>A
n.3335T>A
c.3846T>A (p.Ile1282=)
c.3894T>A (p.Ile1298=)
c.3954T>A (p.Ile1318=)
c.3504T>A (p.Ile1168=)
c.1806T>A (p.Ile602=)
c.1623T>A (p.Ile541=)
c.3855T>A (p.Ile1285=)
c.3807T>A (p.Ile1269=)
c.3576T>A (p.Ile1192=)
c.3477T>A (p.Ile1159=)
c.2658T>A (p.Ile886=)
n.4209T>A
13g.51937308A>CCA388020902ATP7Bc.*1639T>G (n.*1639T>G)
c.*2733T>G (n.*2733T>G)
c.3368T>G (p.Ile1123Ser)
c.3989T>G (p.Ile1330Ser)
c.3656T>G (p.Ile1219Ser)
c.3737T>G (p.Ile1246Ser)
n.1312T>G
c.3755T>G (p.Ile1252Ser)
n.4128T>G
n.855T>G
c.2924T>G (p.Ile975Ser)
c.2699T>G (p.Ile900Ser)
c.3794T>G (p.Ile1265Ser)
c.1767T>G
c.*1090T>G (n.*1090T>G)
n.4733T>G
n.3334T>G
c.3845T>G (p.Ile1282Ser)
c.3893T>G (p.Ile1298Ser)
c.3953T>G (p.Ile1318Ser)
c.3503T>G (p.Ile1168Ser)
c.1805T>G (p.Ile602Ser)
c.1622T>G (p.Ile541Ser)
c.3854T>G (p.Ile1285Ser)
c.3806T>G (p.Ile1269Ser)
c.3575T>G (p.Ile1192Ser)
c.3476T>G (p.Ile1159Ser)
c.2657T>G (p.Ile886Ser)
n.4208T>G
13g.51937308A>GCA388020904ATP7Bc.*1639T>C (n.*1639T>C)
c.*2733T>C (n.*2733T>C)
c.3368T>C (p.Ile1123Thr)
c.3989T>C (p.Ile1330Thr)
c.3656T>C (p.Ile1219Thr)
c.3737T>C (p.Ile1246Thr)
n.1312T>C
c.3755T>C (p.Ile1252Thr)
n.4128T>C
n.855T>C
c.2924T>C (p.Ile975Thr)
c.2699T>C (p.Ile900Thr)
c.3794T>C (p.Ile1265Thr)
c.1767T>C
c.*1090T>C (n.*1090T>C)
n.4733T>C
n.3334T>C
c.3845T>C (p.Ile1282Thr)
c.3893T>C (p.Ile1298Thr)
c.3953T>C (p.Ile1318Thr)
c.3503T>C (p.Ile1168Thr)
c.1805T>C (p.Ile602Thr)
c.1622T>C (p.Ile541Thr)
c.3854T>C (p.Ile1285Thr)
c.3806T>C (p.Ile1269Thr)
c.3575T>C (p.Ile1192Thr)
c.3476T>C (p.Ile1159Thr)
c.2657T>C (p.Ile886Thr)
n.4208T>C
13g.51937308A>TCA388020906ATP7Bc.*1639T>A (n.*1639T>A)
c.*2733T>A (n.*2733T>A)
c.3368T>A (p.Ile1123Asn)
c.3989T>A (p.Ile1330Asn)
c.3656T>A (p.Ile1219Asn)
c.3737T>A (p.Ile1246Asn)
n.1312T>A
c.3755T>A (p.Ile1252Asn)
n.4128T>A
n.855T>A
c.2924T>A (p.Ile975Asn)
c.2699T>A (p.Ile900Asn)
c.3794T>A (p.Ile1265Asn)
c.1767T>A
c.*1090T>A (n.*1090T>A)
n.4733T>A
n.3334T>A
c.3845T>A (p.Ile1282Asn)
c.3893T>A (p.Ile1298Asn)
c.3953T>A (p.Ile1318Asn)
c.3503T>A (p.Ile1168Asn)
c.1805T>A (p.Ile602Asn)
c.1622T>A (p.Ile541Asn)
c.3854T>A (p.Ile1285Asn)
c.3806T>A (p.Ile1269Asn)
c.3575T>A (p.Ile1192Asn)
c.3476T>A (p.Ile1159Asn)
c.2657T>A (p.Ile886Asn)
n.4208T>A
13g.51937309T>ACA388020909ATP7Bc.*1638A>T (n.*1638A>T)
c.*2732A>T (n.*2732A>T)
c.3367A>T (p.Ile1123Phe)
c.3988A>T (p.Ile1330Phe)
c.3655A>T (p.Ile1219Phe)
c.3736A>T (p.Ile1246Phe)
n.1311A>T
c.3754A>T (p.Ile1252Phe)
n.4127A>T
n.854A>T
c.2923A>T (p.Ile975Phe)
c.2698A>T (p.Ile900Phe)
c.3793A>T (p.Ile1265Phe)
c.1766A>T
c.*1089A>T (n.*1089A>T)
n.4732A>T
n.3333A>T
c.3844A>T (p.Ile1282Phe)
c.3892A>T (p.Ile1298Phe)
c.3952A>T (p.Ile1318Phe)
c.3502A>T (p.Ile1168Phe)
c.1804A>T (p.Ile602Phe)
c.1621A>T (p.Ile541Phe)
c.3853A>T (p.Ile1285Phe)
c.3805A>T (p.Ile1269Phe)
c.3574A>T (p.Ile1192Phe)
c.3475A>T (p.Ile1159Phe)
c.2656A>T (p.Ile886Phe)
n.4207A>T
13g.51937309T>CCA388020911ATP7Bc.*1638A>G (n.*1638A>G)
c.*2732A>G (n.*2732A>G)
c.3367A>G (p.Ile1123Val)
c.3988A>G (p.Ile1330Val)
c.3655A>G (p.Ile1219Val)
c.3736A>G (p.Ile1246Val)
n.1311A>G
c.3754A>G (p.Ile1252Val)
n.4127A>G
n.854A>G
c.2923A>G (p.Ile975Val)
c.2698A>G (p.Ile900Val)
c.3793A>G (p.Ile1265Val)
c.1766A>G
c.*1089A>G (n.*1089A>G)
n.4732A>G
n.3333A>G
c.3844A>G (p.Ile1282Val)
c.3892A>G (p.Ile1298Val)
c.3952A>G (p.Ile1318Val)
c.3502A>G (p.Ile1168Val)
c.1804A>G (p.Ile602Val)
c.1621A>G (p.Ile541Val)
c.3853A>G (p.Ile1285Val)
c.3805A>G (p.Ile1269Val)
c.3574A>G (p.Ile1192Val)
c.3475A>G (p.Ile1159Val)
c.2656A>G (p.Ile886Val)
n.4207A>G
13g.51937309T>GCA388020913ATP7Bc.*1638A>C (n.*1638A>C)
c.*2732A>C (n.*2732A>C)
c.3367A>C (p.Ile1123Leu)
c.3988A>C (p.Ile1330Leu)
c.3655A>C (p.Ile1219Leu)
c.3736A>C (p.Ile1246Leu)
n.1311A>C
c.3754A>C (p.Ile1252Leu)
n.4127A>C
n.854A>C
c.2923A>C (p.Ile975Leu)
c.2698A>C (p.Ile900Leu)
c.3793A>C (p.Ile1265Leu)
c.1766A>C
c.*1089A>C (n.*1089A>C)
n.4732A>C
n.3333A>C
c.3844A>C (p.Ile1282Leu)
c.3892A>C (p.Ile1298Leu)
c.3952A>C (p.Ile1318Leu)
c.3502A>C (p.Ile1168Leu)
c.1804A>C (p.Ile602Leu)
c.1621A>C (p.Ile541Leu)
c.3853A>C (p.Ile1285Leu)
c.3805A>C (p.Ile1269Leu)
c.3574A>C (p.Ile1192Leu)
c.3475A>C (p.Ile1159Leu)
c.2656A>C (p.Ile886Leu)
n.4207A>C
 COSMIC
13g.51937310C>ACA483893476ATP7Bc.*1637G>T (n.*1637G>T)
c.*2731G>T (n.*2731G>T)
c.3366G>T (p.Leu1122=)
c.3987G>T (p.Leu1329=)
c.3654G>T (p.Leu1218=)
c.3735G>T (p.Leu1245=)
n.1310G>T
c.3753G>T (p.Leu1251=)
n.4126G>T
n.853G>T
c.2922G>T (p.Leu974=)
c.2697G>T (p.Leu899=)
c.3792G>T (p.Leu1264=)
c.1765G>T
c.*1088G>T (n.*1088G>T)
n.4731G>T
n.3332G>T
c.3843G>T (p.Leu1281=)
c.3891G>T (p.Leu1297=)
c.3951G>T (p.Leu1317=)
c.3501G>T (p.Leu1167=)
c.1803G>T (p.Leu601=)
c.1620G>T (p.Leu540=)
c.3852G>T (p.Leu1284=)
c.3804G>T (p.Leu1268=)
c.3573G>T (p.Leu1191=)
c.3474G>T (p.Leu1158=)
c.2655G>T (p.Leu885=)
n.4206G>T
13g.51937310C>GCA483893475ATP7Bc.*1637G>C (n.*1637G>C)
c.*2731G>C (n.*2731G>C)
c.3366G>C (p.Leu1122=)
c.3987G>C (p.Leu1329=)
c.3654G>C (p.Leu1218=)
c.3735G>C (p.Leu1245=)
n.1310G>C
c.3753G>C (p.Leu1251=)
n.4126G>C
n.853G>C
c.2922G>C (p.Leu974=)
c.2697G>C (p.Leu899=)
c.3792G>C (p.Leu1264=)
c.1765G>C
c.*1088G>C (n.*1088G>C)
n.4731G>C
n.3332G>C
c.3843G>C (p.Leu1281=)
c.3891G>C (p.Leu1297=)
c.3951G>C (p.Leu1317=)
c.3501G>C (p.Leu1167=)
c.1803G>C (p.Leu601=)
c.1620G>C (p.Leu540=)
c.3852G>C (p.Leu1284=)
c.3804G>C (p.Leu1268=)
c.3573G>C (p.Leu1191=)
c.3474G>C (p.Leu1158=)
c.2655G>C (p.Leu885=)
n.4206G>C
13g.51937310C>TCA483893474ATP7Bc.*1637G>A (n.*1637G>A)
c.*2731G>A (n.*2731G>A)
c.3366G>A (p.Leu1122=)
c.3987G>A (p.Leu1329=)
c.3654G>A (p.Leu1218=)
c.3735G>A (p.Leu1245=)
n.1310G>A
c.3753G>A (p.Leu1251=)
n.4126G>A
n.853G>A
c.2922G>A (p.Leu974=)
c.2697G>A (p.Leu899=)
c.3792G>A (p.Leu1264=)
c.1765G>A
c.*1088G>A (n.*1088G>A)
n.4731G>A
n.3332G>A
c.3843G>A (p.Leu1281=)
c.3891G>A (p.Leu1297=)
c.3951G>A (p.Leu1317=)
c.3501G>A (p.Leu1167=)
c.1803G>A (p.Leu601=)
c.1620G>A (p.Leu540=)
c.3852G>A (p.Leu1284=)
c.3804G>A (p.Leu1268=)
c.3573G>A (p.Leu1191=)
c.3474G>A (p.Leu1158=)
c.2655G>A (p.Leu885=)
n.4206G>A
13g.51937311A>CCA388020928ATP7Bc.*1636T>G (n.*1636T>G)
c.*2730T>G (n.*2730T>G)
c.3365T>G (p.Leu1122Arg)
c.3986T>G (p.Leu1329Arg)
c.3653T>G (p.Leu1218Arg)
c.3734T>G (p.Leu1245Arg)
n.1309T>G
c.3752T>G (p.Leu1251Arg)
n.4125T>G
n.852T>G
c.2921T>G (p.Leu974Arg)
c.2696T>G (p.Leu899Arg)
c.3791T>G (p.Leu1264Arg)
c.1764T>G
c.*1087T>G (n.*1087T>G)
n.4730T>G
n.3331T>G
c.3842T>G (p.Leu1281Arg)
c.3890T>G (p.Leu1297Arg)
c.3950T>G (p.Leu1317Arg)
c.3500T>G (p.Leu1167Arg)
c.1802T>G (p.Leu601Arg)
c.1619T>G (p.Leu540Arg)
c.3851T>G (p.Leu1284Arg)
c.3803T>G (p.Leu1268Arg)
c.3572T>G (p.Leu1191Arg)
c.3473T>G (p.Leu1158Arg)
c.2654T>G (p.Leu885Arg)
n.4205T>G
13g.51937311A>GCA388020918ATP7Bc.*1636T>C (n.*1636T>C)
c.*2730T>C (n.*2730T>C)
c.3365T>C (p.Leu1122Pro)
c.3986T>C (p.Leu1329Pro)
c.3653T>C (p.Leu1218Pro)
c.3734T>C (p.Leu1245Pro)
n.1309T>C
c.3752T>C (p.Leu1251Pro)
n.4125T>C
n.852T>C
c.2921T>C (p.Leu974Pro)
c.2696T>C (p.Leu899Pro)
c.3791T>C (p.Leu1264Pro)
c.1764T>C
c.*1087T>C (n.*1087T>C)
n.4730T>C
n.3331T>C
c.3842T>C (p.Leu1281Pro)
c.3890T>C (p.Leu1297Pro)
c.3950T>C (p.Leu1317Pro)
c.3500T>C (p.Leu1167Pro)
c.1802T>C (p.Leu601Pro)
c.1619T>C (p.Leu540Pro)
c.3851T>C (p.Leu1284Pro)
c.3803T>C (p.Leu1268Pro)
c.3572T>C (p.Leu1191Pro)
c.3473T>C (p.Leu1158Pro)
c.2654T>C (p.Leu885Pro)
n.4205T>C
13g.51937311A>TCA388020915ATP7Bc.*1636T>A (n.*1636T>A)
c.*2730T>A (n.*2730T>A)
c.3365T>A (p.Leu1122Gln)
c.3986T>A (p.Leu1329Gln)
c.3653T>A (p.Leu1218Gln)
c.3734T>A (p.Leu1245Gln)
n.1309T>A
c.3752T>A (p.Leu1251Gln)
n.4125T>A
n.852T>A
c.2921T>A (p.Leu974Gln)
c.2696T>A (p.Leu899Gln)
c.3791T>A (p.Leu1264Gln)
c.1764T>A
c.*1087T>A (n.*1087T>A)
n.4730T>A
n.3331T>A
c.3842T>A (p.Leu1281Gln)
c.3890T>A (p.Leu1297Gln)
c.3950T>A (p.Leu1317Gln)
c.3500T>A (p.Leu1167Gln)
c.1802T>A (p.Leu601Gln)
c.1619T>A (p.Leu540Gln)
c.3851T>A (p.Leu1284Gln)
c.3803T>A (p.Leu1268Gln)
c.3572T>A (p.Leu1191Gln)
c.3473T>A (p.Leu1158Gln)
c.2654T>A (p.Leu885Gln)
n.4205T>A
13g.51937312G>ACA483893477ATP7Bc.*1635C>T (n.*1635C>T)
c.*2729C>T (n.*2729C>T)
c.3364C>T (p.Leu1122=)
c.3985C>T (p.Leu1329=)
c.3652C>T (p.Leu1218=)
c.3733C>T (p.Leu1245=)
n.1308C>T
c.3751C>T (p.Leu1251=)
n.4124C>T
n.851C>T
c.2920C>T (p.Leu974=)
c.2695C>T (p.Leu899=)
c.3790C>T (p.Leu1264=)
c.1763C>T
c.*1086C>T (n.*1086C>T)
n.4729C>T
n.3330C>T
c.3841C>T (p.Leu1281=)
c.3889C>T (p.Leu1297=)
c.3949C>T (p.Leu1317=)
c.3499C>T (p.Leu1167=)
c.1801C>T (p.Leu601=)
c.1618C>T (p.Leu540=)
c.3850C>T (p.Leu1284=)
c.3802C>T (p.Leu1268=)
c.3571C>T (p.Leu1191=)
c.3472C>T (p.Leu1158=)
c.2653C>T (p.Leu885=)
n.4204C>T
13g.51937312G>CCA388020936ATP7Bc.*1635C>G (n.*1635C>G)
c.*2729C>G (n.*2729C>G)
c.3364C>G (p.Leu1122Val)
c.3985C>G (p.Leu1329Val)
c.3652C>G (p.Leu1218Val)
c.3733C>G (p.Leu1245Val)
n.1308C>G
c.3751C>G (p.Leu1251Val)
n.4124C>G
n.851C>G
c.2920C>G (p.Leu974Val)
c.2695C>G (p.Leu899Val)
c.3790C>G (p.Leu1264Val)
c.1763C>G
c.*1086C>G (n.*1086C>G)
n.4729C>G
n.3330C>G
c.3841C>G (p.Leu1281Val)
c.3889C>G (p.Leu1297Val)
c.3949C>G (p.Leu1317Val)
c.3499C>G (p.Leu1167Val)
c.1801C>G (p.Leu601Val)
c.1618C>G (p.Leu540Val)
c.3850C>G (p.Leu1284Val)
c.3802C>G (p.Leu1268Val)
c.3571C>G (p.Leu1191Val)
c.3472C>G (p.Leu1158Val)
c.2653C>G (p.Leu885Val)
n.4204C>G
13g.51937312G>TCA388020931ATP7Bc.*1635C>A (n.*1635C>A)
c.*2729C>A (n.*2729C>A)
c.3364C>A (p.Leu1122Met)
c.3985C>A (p.Leu1329Met)
c.3652C>A (p.Leu1218Met)
c.3733C>A (p.Leu1245Met)
n.1308C>A
c.3751C>A (p.Leu1251Met)
n.4124C>A
n.851C>A
c.2920C>A (p.Leu974Met)
c.2695C>A (p.Leu899Met)
c.3790C>A (p.Leu1264Met)
c.1763C>A
c.*1086C>A (n.*1086C>A)
n.4729C>A
n.3330C>A
c.3841C>A (p.Leu1281Met)
c.3889C>A (p.Leu1297Met)
c.3949C>A (p.Leu1317Met)
c.3499C>A (p.Leu1167Met)
c.1801C>A (p.Leu601Met)
c.1618C>A (p.Leu540Met)
c.3850C>A (p.Leu1284Met)
c.3802C>A (p.Leu1268Met)
c.3571C>A (p.Leu1191Met)
c.3472C>A (p.Leu1158Met)
c.2653C>A (p.Leu885Met)
n.4204C>A
13g.51937313T>ACA483893478ATP7Bc.*1634A>T (n.*1634A>T)
c.*2728A>T (n.*2728A>T)
c.3363A>T (p.Ala1121=)
c.3984A>T (p.Ala1328=)
c.3651A>T (p.Ala1217=)
c.3732A>T (p.Ala1244=)
n.1307A>T
c.3750A>T (p.Ala1250=)
n.4123A>T
n.850A>T
c.2919A>T (p.Ala973=)
c.2694A>T (p.Ala898=)
c.3789A>T (p.Ala1263=)
c.1762A>T
c.*1085A>T (n.*1085A>T)
n.4728A>T
n.3329A>T
c.3840A>T (p.Ala1280=)
c.3888A>T (p.Ala1296=)
c.3948A>T (p.Ala1316=)
c.3498A>T (p.Ala1166=)
c.1800A>T (p.Ala600=)
c.1617A>T (p.Ala539=)
c.3849A>T (p.Ala1283=)
c.3801A>T (p.Ala1267=)
c.3570A>T (p.Ala1190=)
c.3471A>T (p.Ala1157=)
c.2652A>T (p.Ala884=)
n.4203A>T
13g.51937313T>CCA483893480ATP7Bc.*1634A>G (n.*1634A>G)
c.*2728A>G (n.*2728A>G)
c.3363A>G (p.Ala1121=)
c.3984A>G (p.Ala1328=)
c.3651A>G (p.Ala1217=)
c.3732A>G (p.Ala1244=)
n.1307A>G
c.3750A>G (p.Ala1250=)
n.4123A>G
n.850A>G
c.2919A>G (p.Ala973=)
c.2694A>G (p.Ala898=)
c.3789A>G (p.Ala1263=)
c.1762A>G
c.*1085A>G (n.*1085A>G)
n.4728A>G
n.3329A>G
c.3840A>G (p.Ala1280=)
c.3888A>G (p.Ala1296=)
c.3948A>G (p.Ala1316=)
c.3498A>G (p.Ala1166=)
c.1800A>G (p.Ala600=)
c.1617A>G (p.Ala539=)
c.3849A>G (p.Ala1283=)
c.3801A>G (p.Ala1267=)
c.3570A>G (p.Ala1190=)
c.3471A>G (p.Ala1157=)
c.2652A>G (p.Ala884=)
n.4203A>G
 ClinVar dbSNP gnomAD v4
13g.51937313T>GCA483893479ATP7Bc.*1634A>C (n.*1634A>C)
c.*2728A>C (n.*2728A>C)
c.3363A>C (p.Ala1121=)
c.3984A>C (p.Ala1328=)
c.3651A>C (p.Ala1217=)
c.3732A>C (p.Ala1244=)
n.1307A>C
c.3750A>C (p.Ala1250=)
n.4123A>C
n.850A>C
c.2919A>C (p.Ala973=)
c.2694A>C (p.Ala898=)
c.3789A>C (p.Ala1263=)
c.1762A>C
c.*1085A>C (n.*1085A>C)
n.4728A>C
n.3329A>C
c.3840A>C (p.Ala1280=)
c.3888A>C (p.Ala1296=)
c.3948A>C (p.Ala1316=)
c.3498A>C (p.Ala1166=)
c.1800A>C (p.Ala600=)
c.1617A>C (p.Ala539=)
c.3849A>C (p.Ala1283=)
c.3801A>C (p.Ala1267=)
c.3570A>C (p.Ala1190=)
c.3471A>C (p.Ala1157=)
c.2652A>C (p.Ala884=)
n.4203A>C
13g.51937314G>ACA388020939ATP7Bc.*1633C>T (n.*1633C>T)
c.*2727C>T (n.*2727C>T)
c.3362C>T (p.Ala1121Val)
c.3983C>T (p.Ala1328Val)
c.3650C>T (p.Ala1217Val)
c.3731C>T (p.Ala1244Val)
n.1306C>T
c.3749C>T (p.Ala1250Val)
n.4122C>T
n.849C>T
c.2918C>T (p.Ala973Val)
c.2693C>T (p.Ala898Val)
c.3788C>T (p.Ala1263Val)
c.1761C>T
c.*1084C>T (n.*1084C>T)
n.4727C>T
n.3328C>T
c.3839C>T (p.Ala1280Val)
c.3887C>T (p.Ala1296Val)
c.3947C>T (p.Ala1316Val)
c.3497C>T (p.Ala1166Val)
c.1799C>T (p.Ala600Val)
c.1616C>T (p.Ala539Val)
c.3848C>T (p.Ala1283Val)
c.3800C>T (p.Ala1267Val)
c.3569C>T (p.Ala1190Val)
c.3470C>T (p.Ala1157Val)
c.2651C>T (p.Ala884Val)
n.4202C>T
 dbSNP gnomAD v4
13g.51937314G>CCA388020940ATP7Bc.*1633C>G (n.*1633C>G)
c.*2727C>G (n.*2727C>G)
c.3362C>G (p.Ala1121Gly)
c.3983C>G (p.Ala1328Gly)
c.3650C>G (p.Ala1217Gly)
c.3731C>G (p.Ala1244Gly)
n.1306C>G
c.3749C>G (p.Ala1250Gly)
n.4122C>G
n.849C>G
c.2918C>G (p.Ala973Gly)
c.2693C>G (p.Ala898Gly)
c.3788C>G (p.Ala1263Gly)
c.1761C>G
c.*1084C>G (n.*1084C>G)
n.4727C>G
n.3328C>G
c.3839C>G (p.Ala1280Gly)
c.3887C>G (p.Ala1296Gly)
c.3947C>G (p.Ala1316Gly)
c.3497C>G (p.Ala1166Gly)
c.1799C>G (p.Ala600Gly)
c.1616C>G (p.Ala539Gly)
c.3848C>G (p.Ala1283Gly)
c.3800C>G (p.Ala1267Gly)
c.3569C>G (p.Ala1190Gly)
c.3470C>G (p.Ala1157Gly)
c.2651C>G (p.Ala884Gly)
n.4202C>G
13g.51937314G=CA2091553375ATP7Bc.*1633C= (n.*1633C=)
c.*2727C= (n.*2727C=)
c.3362C= (p.Ala1121=)
c.3983C= (p.Ala1328=)
c.3650C= (p.Ala1217=)
c.3731C= (p.Ala1244=)
n.1306C=
c.3749C= (p.Ala1250=)
n.4122C=
n.849C=
c.2918C= (p.Ala973=)
c.2693C= (p.Ala898=)
c.3788C= (p.Ala1263=)
c.1761C=
c.*1084C= (n.*1084C=)
n.4727C=
n.3328C=
c.3839C= (p.Ala1280=)
c.3887C= (p.Ala1296=)
c.3947C= (p.Ala1316=)
c.3497C= (p.Ala1166=)
c.1799C= (p.Ala600=)
c.1616C= (p.Ala539=)
c.3848C= (p.Ala1283=)
c.3800C= (p.Ala1267=)
c.3569C= (p.Ala1190=)
c.3470C= (p.Ala1157=)
c.2651C= (p.Ala884=)
n.4202C=
13g.51937314G>TCA388020943ATP7Bc.*1633C>A (n.*1633C>A)
c.*2727C>A (n.*2727C>A)
c.3362C>A (p.Ala1121Glu)
c.3983C>A (p.Ala1328Glu)
c.3650C>A (p.Ala1217Glu)
c.3731C>A (p.Ala1244Glu)
n.1306C>A
c.3749C>A (p.Ala1250Glu)
n.4122C>A
n.849C>A
c.2918C>A (p.Ala973Glu)
c.2693C>A (p.Ala898Glu)
c.3788C>A (p.Ala1263Glu)
c.1761C>A
c.*1084C>A (n.*1084C>A)
n.4727C>A
n.3328C>A
c.3839C>A (p.Ala1280Glu)
c.3887C>A (p.Ala1296Glu)
c.3947C>A (p.Ala1316Glu)
c.3497C>A (p.Ala1166Glu)
c.1799C>A (p.Ala600Glu)
c.1616C>A (p.Ala539Glu)
c.3848C>A (p.Ala1283Glu)
c.3800C>A (p.Ala1267Glu)
c.3569C>A (p.Ala1190Glu)
c.3470C>A (p.Ala1157Glu)
c.2651C>A (p.Ala884Glu)
n.4202C>A
13g.51937315C>ACA388020948ATP7Bc.*1632G>T (n.*1632G>T)
c.*2726G>T (n.*2726G>T)
c.3361G>T (p.Ala1121Ser)
c.3982G>T (p.Ala1328Ser)
c.3649G>T (p.Ala1217Ser)
c.3730G>T (p.Ala1244Ser)
n.1305G>T
c.3748G>T (p.Ala1250Ser)
n.4121G>T
n.848G>T
c.2917G>T (p.Ala973Ser)
c.2692G>T (p.Ala898Ser)
c.3787G>T (p.Ala1263Ser)
c.1760G>T
c.*1083G>T (n.*1083G>T)
n.4726G>T
n.3327G>T
c.3838G>T (p.Ala1280Ser)
c.3886G>T (p.Ala1296Ser)
c.3946G>T (p.Ala1316Ser)
c.3496G>T (p.Ala1166Ser)
c.1798G>T (p.Ala600Ser)
c.1615G>T (p.Ala539Ser)
c.3847G>T (p.Ala1283Ser)
c.3799G>T (p.Ala1267Ser)
c.3568G>T (p.Ala1190Ser)
c.3469G>T (p.Ala1157Ser)
c.2650G>T (p.Ala884Ser)
n.4201G>T
13g.51937315C=CA2091553380ATP7Bc.*1632G= (n.*1632G=)
c.*2726G= (n.*2726G=)
c.3361G= (p.Ala1121=)
c.3982G= (p.Ala1328=)
c.3649G= (p.Ala1217=)
c.3730G= (p.Ala1244=)
n.1305G=
c.3748G= (p.Ala1250=)
n.4121G=
n.848G=
c.2917G= (p.Ala973=)
c.2692G= (p.Ala898=)
c.3787G= (p.Ala1263=)
c.1760G=
c.*1083G= (n.*1083G=)
n.4726G=
n.3327G=
c.3838G= (p.Ala1280=)
c.3886G= (p.Ala1296=)
c.3946G= (p.Ala1316=)
c.3496G= (p.Ala1166=)
c.1798G= (p.Ala600=)
c.1615G= (p.Ala539=)
c.3847G= (p.Ala1283=)
c.3799G= (p.Ala1267=)
c.3568G= (p.Ala1190=)
c.3469G= (p.Ala1157=)
c.2650G= (p.Ala884=)
n.4201G=
13g.51937315C>GCA388020949ATP7Bc.*1632G>C (n.*1632G>C)
c.*2726G>C (n.*2726G>C)
c.3361G>C (p.Ala1121Pro)
c.3982G>C (p.Ala1328Pro)
c.3649G>C (p.Ala1217Pro)
c.3730G>C (p.Ala1244Pro)
n.1305G>C
c.3748G>C (p.Ala1250Pro)
n.4121G>C
n.848G>C
c.2917G>C (p.Ala973Pro)
c.2692G>C (p.Ala898Pro)
c.3787G>C (p.Ala1263Pro)
c.1760G>C
c.*1083G>C (n.*1083G>C)
n.4726G>C
n.3327G>C
c.3838G>C (p.Ala1280Pro)
c.3886G>C (p.Ala1296Pro)
c.3946G>C (p.Ala1316Pro)
c.3496G>C (p.Ala1166Pro)
c.1798G>C (p.Ala600Pro)
c.1615G>C (p.Ala539Pro)
c.3847G>C (p.Ala1283Pro)
c.3799G>C (p.Ala1267Pro)
c.3568G>C (p.Ala1190Pro)
c.3469G>C (p.Ala1157Pro)
c.2650G>C (p.Ala884Pro)
n.4201G>C
13g.51937315C>TCA388020952ATP7Bc.*1632G>A (n.*1632G>A)
c.*2726G>A (n.*2726G>A)
c.3361G>A (p.Ala1121Thr)
c.3982G>A (p.Ala1328Thr)
c.3649G>A (p.Ala1217Thr)
c.3730G>A (p.Ala1244Thr)
n.1305G>A
c.3748G>A (p.Ala1250Thr)
n.4121G>A
n.848G>A
c.2917G>A (p.Ala973Thr)
c.2692G>A (p.Ala898Thr)
c.3787G>A (p.Ala1263Thr)
c.1760G>A
c.*1083G>A (n.*1083G>A)
n.4726G>A
n.3327G>A
c.3838G>A (p.Ala1280Thr)
c.3886G>A (p.Ala1296Thr)
c.3946G>A (p.Ala1316Thr)
c.3496G>A (p.Ala1166Thr)
c.1798G>A (p.Ala600Thr)
c.1615G>A (p.Ala539Thr)
c.3847G>A (p.Ala1283Thr)
c.3799G>A (p.Ala1267Thr)
c.3568G>A (p.Ala1190Thr)
c.3469G>A (p.Ala1157Thr)
c.2650G>A (p.Ala884Thr)
n.4201G>A
 ClinVar dbSNP gnomAD v4
13g.51937316C>ACA483893481ATP7Bc.*1631G>T (n.*1631G>T)
c.*2725G>T (n.*2725G>T)
c.3360G>T (p.Leu1120=)
c.3981G>T (p.Leu1327=)
c.3648G>T (p.Leu1216=)
c.3729G>T (p.Leu1243=)
n.1304G>T
c.3747G>T (p.Leu1249=)
n.4120G>T
n.847G>T
c.2916G>T (p.Leu972=)
c.2691G>T (p.Leu897=)
c.3786G>T (p.Leu1262=)
c.1759G>T
c.*1082G>T (n.*1082G>T)
n.4725G>T
n.3326G>T
c.3837G>T (p.Leu1279=)
c.3885G>T (p.Leu1295=)
c.3945G>T (p.Leu1315=)
c.3495G>T (p.Leu1165=)
c.1797G>T (p.Leu599=)
c.1614G>T (p.Leu538=)
c.3846G>T (p.Leu1282=)
c.3798G>T (p.Leu1266=)
c.3567G>T (p.Leu1189=)
c.3468G>T (p.Leu1156=)
c.2649G>T (p.Leu883=)
n.4200G>T
13g.51937316C>GCA483893482ATP7Bc.*1631G>C (n.*1631G>C)
c.*2725G>C (n.*2725G>C)
c.3360G>C (p.Leu1120=)
c.3981G>C (p.Leu1327=)
c.3648G>C (p.Leu1216=)
c.3729G>C (p.Leu1243=)
n.1304G>C
c.3747G>C (p.Leu1249=)
n.4120G>C
n.847G>C
c.2916G>C (p.Leu972=)
c.2691G>C (p.Leu897=)
c.3786G>C (p.Leu1262=)
c.1759G>C
c.*1082G>C (n.*1082G>C)
n.4725G>C
n.3326G>C
c.3837G>C (p.Leu1279=)
c.3885G>C (p.Leu1295=)
c.3945G>C (p.Leu1315=)
c.3495G>C (p.Leu1165=)
c.1797G>C (p.Leu599=)
c.1614G>C (p.Leu538=)
c.3846G>C (p.Leu1282=)
c.3798G>C (p.Leu1266=)
c.3567G>C (p.Leu1189=)
c.3468G>C (p.Leu1156=)
c.2649G>C (p.Leu883=)
n.4200G>C
13g.51937316C>TCA483893483ATP7Bc.*1631G>A (n.*1631G>A)
c.*2725G>A (n.*2725G>A)
c.3360G>A (p.Leu1120=)
c.3981G>A (p.Leu1327=)
c.3648G>A (p.Leu1216=)
c.3729G>A (p.Leu1243=)
n.1304G>A
c.3747G>A (p.Leu1249=)
n.4120G>A
n.847G>A
c.2916G>A (p.Leu972=)
c.2691G>A (p.Leu897=)
c.3786G>A (p.Leu1262=)
c.1759G>A
c.*1082G>A (n.*1082G>A)
n.4725G>A
n.3326G>A
c.3837G>A (p.Leu1279=)
c.3885G>A (p.Leu1295=)
c.3945G>A (p.Leu1315=)
c.3495G>A (p.Leu1165=)
c.1797G>A (p.Leu599=)
c.1614G>A (p.Leu538=)
c.3846G>A (p.Leu1282=)
c.3798G>A (p.Leu1266=)
c.3567G>A (p.Leu1189=)
c.3468G>A (p.Leu1156=)
c.2649G>A (p.Leu883=)
n.4200G>A
13g.51937317A>CCA388020955ATP7Bc.*1630T>G (n.*1630T>G)
c.*2724T>G (n.*2724T>G)
c.3359T>G (p.Leu1120Arg)
c.3980T>G (p.Leu1327Arg)
c.3647T>G (p.Leu1216Arg)
c.3728T>G (p.Leu1243Arg)
n.1303T>G
c.3746T>G (p.Leu1249Arg)
n.4119T>G
n.846T>G
c.2915T>G (p.Leu972Arg)
c.2690T>G (p.Leu897Arg)
c.3785T>G (p.Leu1262Arg)
c.1758T>G
c.*1081T>G (n.*1081T>G)
n.4724T>G
n.3325T>G
c.3836T>G (p.Leu1279Arg)
c.3884T>G (p.Leu1295Arg)
c.3944T>G (p.Leu1315Arg)
c.3494T>G (p.Leu1165Arg)
c.1796T>G (p.Leu599Arg)
c.1613T>G (p.Leu538Arg)
c.3845T>G (p.Leu1282Arg)
c.3797T>G (p.Leu1266Arg)
c.3566T>G (p.Leu1189Arg)
c.3467T>G (p.Leu1156Arg)
c.2648T>G (p.Leu883Arg)
n.4199T>G
13g.51937317A>GCA388020957ATP7Bc.*1630T>C (n.*1630T>C)
c.*2724T>C (n.*2724T>C)
c.3359T>C (p.Leu1120Pro)
c.3980T>C (p.Leu1327Pro)
c.3647T>C (p.Leu1216Pro)
c.3728T>C (p.Leu1243Pro)
n.1303T>C
c.3746T>C (p.Leu1249Pro)
n.4119T>C
n.846T>C
c.2915T>C (p.Leu972Pro)
c.2690T>C (p.Leu897Pro)
c.3785T>C (p.Leu1262Pro)
c.1758T>C
c.*1081T>C (n.*1081T>C)
n.4724T>C
n.3325T>C
c.3836T>C (p.Leu1279Pro)
c.3884T>C (p.Leu1295Pro)
c.3944T>C (p.Leu1315Pro)
c.3494T>C (p.Leu1165Pro)
c.1796T>C (p.Leu599Pro)
c.1613T>C (p.Leu538Pro)
c.3845T>C (p.Leu1282Pro)
c.3797T>C (p.Leu1266Pro)
c.3566T>C (p.Leu1189Pro)
c.3467T>C (p.Leu1156Pro)
c.2648T>C (p.Leu883Pro)
n.4199T>C
 ClinVar dbSNP
13g.51937317A>TCA388020959ATP7Bc.*1630T>A (n.*1630T>A)
c.*2724T>A (n.*2724T>A)
c.3359T>A (p.Leu1120Gln)
c.3980T>A (p.Leu1327Gln)
c.3647T>A (p.Leu1216Gln)
c.3728T>A (p.Leu1243Gln)
n.1303T>A
c.3746T>A (p.Leu1249Gln)
n.4119T>A
n.846T>A
c.2915T>A (p.Leu972Gln)
c.2690T>A (p.Leu897Gln)
c.3785T>A (p.Leu1262Gln)
c.1758T>A
c.*1081T>A (n.*1081T>A)
n.4724T>A
n.3325T>A
c.3836T>A (p.Leu1279Gln)
c.3884T>A (p.Leu1295Gln)
c.3944T>A (p.Leu1315Gln)
c.3494T>A (p.Leu1165Gln)
c.1796T>A (p.Leu599Gln)
c.1613T>A (p.Leu538Gln)
c.3845T>A (p.Leu1282Gln)
c.3797T>A (p.Leu1266Gln)
c.3566T>A (p.Leu1189Gln)
c.3467T>A (p.Leu1156Gln)
c.2648T>A (p.Leu883Gln)
n.4199T>A
13g.51937318G>ACA483893484ATP7Bc.*1629C>T (n.*1629C>T)
c.*2723C>T (n.*2723C>T)
c.3358C>T (p.Leu1120=)
c.3979C>T (p.Leu1327=)
c.3646C>T (p.Leu1216=)
c.3727C>T (p.Leu1243=)
n.1302C>T
c.3745C>T (p.Leu1249=)
n.4118C>T
n.845C>T
c.2914C>T (p.Leu972=)
c.2689C>T (p.Leu897=)
c.3784C>T (p.Leu1262=)
c.1757C>T
c.*1080C>T (n.*1080C>T)
n.4723C>T
n.3324C>T
c.3835C>T (p.Leu1279=)
c.3883C>T (p.Leu1295=)
c.3943C>T (p.Leu1315=)
c.3493C>T (p.Leu1165=)
c.1795C>T (p.Leu599=)
c.1612C>T (p.Leu538=)
c.3844C>T (p.Leu1282=)
c.3796C>T (p.Leu1266=)
c.3565C>T (p.Leu1189=)
c.3466C>T (p.Leu1156=)
c.2647C>T (p.Leu883=)
n.4198C>T
 ClinVar
13g.51937318G>CCA388020964ATP7Bc.*1629C>G (n.*1629C>G)
c.*2723C>G (n.*2723C>G)
c.3358C>G (p.Leu1120Val)
c.3979C>G (p.Leu1327Val)
c.3646C>G (p.Leu1216Val)
c.3727C>G (p.Leu1243Val)
n.1302C>G
c.3745C>G (p.Leu1249Val)
n.4118C>G
n.845C>G
c.2914C>G (p.Leu972Val)
c.2689C>G (p.Leu897Val)
c.3784C>G (p.Leu1262Val)
c.1757C>G
c.*1080C>G (n.*1080C>G)
n.4723C>G
n.3324C>G
c.3835C>G (p.Leu1279Val)
c.3883C>G (p.Leu1295Val)
c.3943C>G (p.Leu1315Val)
c.3493C>G (p.Leu1165Val)
c.1795C>G (p.Leu599Val)
c.1612C>G (p.Leu538Val)
c.3844C>G (p.Leu1282Val)
c.3796C>G (p.Leu1266Val)
c.3565C>G (p.Leu1189Val)
c.3466C>G (p.Leu1156Val)
c.2647C>G (p.Leu883Val)
n.4198C>G
 gnomAD v4
13g.51937318G>TCA388020966ATP7Bc.*1629C>A (n.*1629C>A)
c.*2723C>A (n.*2723C>A)
c.3358C>A (p.Leu1120Met)
c.3979C>A (p.Leu1327Met)
c.3646C>A (p.Leu1216Met)
c.3727C>A (p.Leu1243Met)
n.1302C>A
c.3745C>A (p.Leu1249Met)
n.4118C>A
n.845C>A
c.2914C>A (p.Leu972Met)
c.2689C>A (p.Leu897Met)
c.3784C>A (p.Leu1262Met)
c.1757C>A
c.*1080C>A (n.*1080C>A)
n.4723C>A
n.3324C>A
c.3835C>A (p.Leu1279Met)
c.3883C>A (p.Leu1295Met)
c.3943C>A (p.Leu1315Met)
c.3493C>A (p.Leu1165Met)
c.1795C>A (p.Leu599Met)
c.1612C>A (p.Leu538Met)
c.3844C>A (p.Leu1282Met)
c.3796C>A (p.Leu1266Met)
c.3565C>A (p.Leu1189Met)
c.3466C>A (p.Leu1156Met)
c.2647C>A (p.Leu883Met)
n.4198C>A
13g.51937319G>ACA483893485ATP7Bc.*1628C>T (n.*1628C>T)
c.*2722C>T (n.*2722C>T)
c.3357C>T (p.Val1119=)
c.3978C>T (p.Val1326=)
c.3645C>T (p.Val1215=)
c.3726C>T (p.Val1242=)
n.1301C>T
c.3744C>T (p.Val1248=)
n.4117C>T
n.844C>T
c.2913C>T (p.Val971=)
c.2688C>T (p.Val896=)
c.3783C>T (p.Val1261=)
c.1756C>T
c.*1079C>T (n.*1079C>T)
n.4722C>T
n.3323C>T
c.3834C>T (p.Val1278=)
c.3882C>T (p.Val1294=)
c.3942C>T (p.Val1314=)
c.3492C>T (p.Val1164=)
c.1794C>T (p.Val598=)
c.1611C>T (p.Val537=)
c.3843C>T (p.Val1281=)
c.3795C>T (p.Val1265=)
c.3564C>T (p.Val1188=)
c.3465C>T (p.Val1155=)
c.2646C>T (p.Val882=)
n.4197C>T
 ClinVar dbSNP
13g.51937319G>CCA483893486ATP7Bc.*1628C>G (n.*1628C>G)
c.*2722C>G (n.*2722C>G)
c.3357C>G (p.Val1119=)
c.3978C>G (p.Val1326=)
c.3645C>G (p.Val1215=)
c.3726C>G (p.Val1242=)
n.1301C>G
c.3744C>G (p.Val1248=)
n.4117C>G
n.844C>G
c.2913C>G (p.Val971=)
c.2688C>G (p.Val896=)
c.3783C>G (p.Val1261=)
c.1756C>G
c.*1079C>G (n.*1079C>G)
n.4722C>G
n.3323C>G
c.3834C>G (p.Val1278=)
c.3882C>G (p.Val1294=)
c.3942C>G (p.Val1314=)
c.3492C>G (p.Val1164=)
c.1794C>G (p.Val598=)
c.1611C>G (p.Val537=)
c.3843C>G (p.Val1281=)
c.3795C>G (p.Val1265=)
c.3564C>G (p.Val1188=)
c.3465C>G (p.Val1155=)
c.2646C>G (p.Val882=)
n.4197C>G
13g.51937319G>TCA483893487ATP7Bc.*1628C>A (n.*1628C>A)
c.*2722C>A (n.*2722C>A)
c.3357C>A (p.Val1119=)
c.3978C>A (p.Val1326=)
c.3645C>A (p.Val1215=)
c.3726C>A (p.Val1242=)
n.1301C>A
c.3744C>A (p.Val1248=)
n.4117C>A
n.844C>A
c.2913C>A (p.Val971=)
c.2688C>A (p.Val896=)
c.3783C>A (p.Val1261=)
c.1756C>A
c.*1079C>A (n.*1079C>A)
n.4722C>A
n.3323C>A
c.3834C>A (p.Val1278=)
c.3882C>A (p.Val1294=)
c.3942C>A (p.Val1314=)
c.3492C>A (p.Val1164=)
c.1794C>A (p.Val598=)
c.1611C>A (p.Val537=)
c.3843C>A (p.Val1281=)
c.3795C>A (p.Val1265=)
c.3564C>A (p.Val1188=)
c.3465C>A (p.Val1155=)
c.2646C>A (p.Val882=)
n.4197C>A
13g.51937320A=CA2091553383ATP7Bc.*1627T= (n.*1627T=)
c.*2721T= (n.*2721T=)
c.3356T= (p.Val1119=)
c.3977T= (p.Val1326=)
c.3644T= (p.Val1215=)
c.3725T= (p.Val1242=)
n.1300T=
c.3743T= (p.Val1248=)
n.4116T=
n.843T=
c.2912T= (p.Val971=)
c.2687T= (p.Val896=)
c.3782T= (p.Val1261=)
c.1755T=
c.*1078T= (n.*1078T=)
n.4721T=
n.3322T=
c.3833T= (p.Val1278=)
c.3881T= (p.Val1294=)
c.3941T= (p.Val1314=)
c.3491T= (p.Val1164=)
c.1793T= (p.Val598=)
c.1610T= (p.Val537=)
c.3842T= (p.Val1281=)
c.3794T= (p.Val1265=)
c.3563T= (p.Val1188=)
c.3464T= (p.Val1155=)
c.2645T= (p.Val882=)
n.4196T=
13g.51937320A>CCA388020973ATP7Bc.*1627T>G (n.*1627T>G)
c.*2721T>G (n.*2721T>G)
c.3356T>G (p.Val1119Gly)
c.3977T>G (p.Val1326Gly)
c.3644T>G (p.Val1215Gly)
c.3725T>G (p.Val1242Gly)
n.1300T>G
c.3743T>G (p.Val1248Gly)
n.4116T>G
n.843T>G
c.2912T>G (p.Val971Gly)
c.2687T>G (p.Val896Gly)
c.3782T>G (p.Val1261Gly)
c.1755T>G
c.*1078T>G (n.*1078T>G)
n.4721T>G
n.3322T>G
c.3833T>G (p.Val1278Gly)
c.3881T>G (p.Val1294Gly)
c.3941T>G (p.Val1314Gly)
c.3491T>G (p.Val1164Gly)
c.1793T>G (p.Val598Gly)
c.1610T>G (p.Val537Gly)
c.3842T>G (p.Val1281Gly)
c.3794T>G (p.Val1265Gly)
c.3563T>G (p.Val1188Gly)
c.3464T>G (p.Val1155Gly)
c.2645T>G (p.Val882Gly)
n.4196T>G
 ClinVar dbSNP
13g.51937320A>GCA388020976ATP7Bc.*1627T>C (n.*1627T>C)
c.*2721T>C (n.*2721T>C)
c.3356T>C (p.Val1119Ala)
c.3977T>C (p.Val1326Ala)
c.3644T>C (p.Val1215Ala)
c.3725T>C (p.Val1242Ala)
n.1300T>C
c.3743T>C (p.Val1248Ala)
n.4116T>C
n.843T>C
c.2912T>C (p.Val971Ala)
c.2687T>C (p.Val896Ala)
c.3782T>C (p.Val1261Ala)
c.1755T>C
c.*1078T>C (n.*1078T>C)
n.4721T>C
n.3322T>C
c.3833T>C (p.Val1278Ala)
c.3881T>C (p.Val1294Ala)
c.3941T>C (p.Val1314Ala)
c.3491T>C (p.Val1164Ala)
c.1793T>C (p.Val598Ala)
c.1610T>C (p.Val537Ala)
c.3842T>C (p.Val1281Ala)
c.3794T>C (p.Val1265Ala)
c.3563T>C (p.Val1188Ala)
c.3464T>C (p.Val1155Ala)
c.2645T>C (p.Val882Ala)
n.4196T>C
13g.51937320A>TCA388020969ATP7Bc.*1627T>A (n.*1627T>A)
c.*2721T>A (n.*2721T>A)
c.3356T>A (p.Val1119Asp)
c.3977T>A (p.Val1326Asp)
c.3644T>A (p.Val1215Asp)
c.3725T>A (p.Val1242Asp)
n.1300T>A
c.3743T>A (p.Val1248Asp)
n.4116T>A
n.843T>A
c.2912T>A (p.Val971Asp)
c.2687T>A (p.Val896Asp)
c.3782T>A (p.Val1261Asp)
c.1755T>A
c.*1078T>A (n.*1078T>A)
n.4721T>A
n.3322T>A
c.3833T>A (p.Val1278Asp)
c.3881T>A (p.Val1294Asp)
c.3941T>A (p.Val1314Asp)
c.3491T>A (p.Val1164Asp)
c.1793T>A (p.Val598Asp)
c.1610T>A (p.Val537Asp)
c.3842T>A (p.Val1281Asp)
c.3794T>A (p.Val1265Asp)
c.3563T>A (p.Val1188Asp)
c.3464T>A (p.Val1155Asp)
c.2645T>A (p.Val882Asp)
n.4196T>A
13g.51937321C>ACA388020980ATP7Bc.*1626G>T (n.*1626G>T)
c.*2720G>T (n.*2720G>T)
c.3355G>T (p.Val1119Phe)
c.3976G>T (p.Val1326Phe)
c.3643G>T (p.Val1215Phe)
c.3724G>T (p.Val1242Phe)
n.1299G>T
c.3742G>T (p.Val1248Phe)
n.4115G>T
n.842G>T
c.2911G>T (p.Val971Phe)
c.2686G>T (p.Val896Phe)
c.3781G>T (p.Val1261Phe)
c.1754G>T
c.*1077G>T (n.*1077G>T)
n.4720G>T
n.3321G>T
c.3832G>T (p.Val1278Phe)
c.3880G>T (p.Val1294Phe)
c.3940G>T (p.Val1314Phe)
c.3490G>T (p.Val1164Phe)
c.1792G>T (p.Val598Phe)
c.1609G>T (p.Val537Phe)
c.3841G>T (p.Val1281Phe)
c.3793G>T (p.Val1265Phe)
c.3562G>T (p.Val1188Phe)
c.3463G>T (p.Val1155Phe)
c.2644G>T (p.Val882Phe)
n.4195G>T
13g.51937321C>GCA388020981ATP7Bc.*1626G>C (n.*1626G>C)
c.*2720G>C (n.*2720G>C)
c.3355G>C (p.Val1119Leu)
c.3976G>C (p.Val1326Leu)
c.3643G>C (p.Val1215Leu)
c.3724G>C (p.Val1242Leu)
n.1299G>C
c.3742G>C (p.Val1248Leu)
n.4115G>C
n.842G>C
c.2911G>C (p.Val971Leu)
c.2686G>C (p.Val896Leu)
c.3781G>C (p.Val1261Leu)
c.1754G>C
c.*1077G>C (n.*1077G>C)
n.4720G>C
n.3321G>C
c.3832G>C (p.Val1278Leu)
c.3880G>C (p.Val1294Leu)
c.3940G>C (p.Val1314Leu)
c.3490G>C (p.Val1164Leu)
c.1792G>C (p.Val598Leu)
c.1609G>C (p.Val537Leu)
c.3841G>C (p.Val1281Leu)
c.3793G>C (p.Val1265Leu)
c.3562G>C (p.Val1188Leu)
c.3463G>C (p.Val1155Leu)
c.2644G>C (p.Val882Leu)
n.4195G>C
13g.51937321C>TCA388020983ATP7Bc.*1626G>A (n.*1626G>A)
c.*2720G>A (n.*2720G>A)
c.3355G>A (p.Val1119Ile)
c.3976G>A (p.Val1326Ile)
c.3643G>A (p.Val1215Ile)
c.3724G>A (p.Val1242Ile)
n.1299G>A
c.3742G>A (p.Val1248Ile)
n.4115G>A
n.842G>A
c.2911G>A (p.Val971Ile)
c.2686G>A (p.Val896Ile)
c.3781G>A (p.Val1261Ile)
c.1754G>A
c.*1077G>A (n.*1077G>A)
n.4720G>A
n.3321G>A
c.3832G>A (p.Val1278Ile)
c.3880G>A (p.Val1294Ile)
c.3940G>A (p.Val1314Ile)
c.3490G>A (p.Val1164Ile)
c.1792G>A (p.Val598Ile)
c.1609G>A (p.Val537Ile)
c.3841G>A (p.Val1281Ile)
c.3793G>A (p.Val1265Ile)
c.3562G>A (p.Val1188Ile)
c.3463G>A (p.Val1155Ile)
c.2644G>A (p.Val882Ile)
n.4195G>A
13g.51937322C>ACA483893488ATP7Bc.*1625G>T (n.*1625G>T)
c.*2719G>T (n.*2719G>T)
c.3354G>T (p.Leu1118=)
c.3975G>T (p.Leu1325=)
c.3642G>T (p.Leu1214=)
c.3723G>T (p.Leu1241=)
n.1298G>T
c.3741G>T (p.Leu1247=)
n.4114G>T
n.841G>T
c.2910G>T (p.Leu970=)
c.2685G>T (p.Leu895=)
c.3780G>T (p.Leu1260=)
c.1753G>T
c.*1076G>T (n.*1076G>T)
n.4719G>T
n.3320G>T
c.3831G>T (p.Leu1277=)
c.3879G>T (p.Leu1293=)
c.3939G>T (p.Leu1313=)
c.3489G>T (p.Leu1163=)
c.1791G>T (p.Leu597=)
c.1608G>T (p.Leu536=)
c.3840G>T (p.Leu1280=)
c.3792G>T (p.Leu1264=)
c.3561G>T (p.Leu1187=)
c.3462G>T (p.Leu1154=)
c.2643G>T (p.Leu881=)
n.4194G>T
13g.51937322C>GCA483893490ATP7Bc.*1625G>C (n.*1625G>C)
c.*2719G>C (n.*2719G>C)
c.3354G>C (p.Leu1118=)
c.3975G>C (p.Leu1325=)
c.3642G>C (p.Leu1214=)
c.3723G>C (p.Leu1241=)
n.1298G>C
c.3741G>C (p.Leu1247=)
n.4114G>C
n.841G>C
c.2910G>C (p.Leu970=)
c.2685G>C (p.Leu895=)
c.3780G>C (p.Leu1260=)
c.1753G>C
c.*1076G>C (n.*1076G>C)
n.4719G>C
n.3320G>C
c.3831G>C (p.Leu1277=)
c.3879G>C (p.Leu1293=)
c.3939G>C (p.Leu1313=)
c.3489G>C (p.Leu1163=)
c.1791G>C (p.Leu597=)
c.1608G>C (p.Leu536=)
c.3840G>C (p.Leu1280=)
c.3792G>C (p.Leu1264=)
c.3561G>C (p.Leu1187=)
c.3462G>C (p.Leu1154=)
c.2643G>C (p.Leu881=)
n.4194G>C
13g.51937322C>TCA483893491ATP7Bc.*1625G>A (n.*1625G>A)
c.*2719G>A (n.*2719G>A)
c.3354G>A (p.Leu1118=)
c.3975G>A (p.Leu1325=)
c.3642G>A (p.Leu1214=)
c.3723G>A (p.Leu1241=)
n.1298G>A
c.3741G>A (p.Leu1247=)
n.4114G>A
n.841G>A
c.2910G>A (p.Leu970=)
c.2685G>A (p.Leu895=)
c.3780G>A (p.Leu1260=)
c.1753G>A
c.*1076G>A (n.*1076G>A)
n.4719G>A
n.3320G>A
c.3831G>A (p.Leu1277=)
c.3879G>A (p.Leu1293=)
c.3939G>A (p.Leu1313=)
c.3489G>A (p.Leu1163=)
c.1791G>A (p.Leu597=)
c.1608G>A (p.Leu536=)
c.3840G>A (p.Leu1280=)
c.3792G>A (p.Leu1264=)
c.3561G>A (p.Leu1187=)
c.3462G>A (p.Leu1154=)
c.2643G>A (p.Leu881=)
n.4194G>A
 ClinVar dbSNP
13g.51937322_51937323delinsCACA2091553385ATP7Bc.*1624_*1625delinsTG (n.*1624_*1625delinsTG)
c.*2718_*2719delinsTG (n.*2718_*2719delinsTG)
c.3353_3354delinsTG (p.Leu1118=)
c.3974_3975delinsTG (p.Leu1325=)
c.3641_3642delinsTG (p.Leu1214=)
c.3722_3723delinsTG (p.Leu1241=)
n.1297_1298delinsTG
c.3740_3741delinsTG (p.Leu1247=)
n.4113_4114delinsTG
n.840_841delinsTG
c.2909_2910delinsTG (p.Leu970=)
c.2684_2685delinsTG (p.Leu895=)
c.3779_3780delinsTG (p.Leu1260=)
c.1752_1753delinsTG
c.*1075_*1076delinsTG (n.*1075_*1076delinsTG)
n.4718_4719delinsTG
n.3319_3320delinsTG
c.3830_3831delinsTG (p.Leu1277=)
c.3878_3879delinsTG (p.Leu1293=)
c.3938_3939delinsTG (p.Leu1313=)
c.3488_3489delinsTG (p.Leu1163=)
c.1790_1791delinsTG (p.Leu597=)
c.1607_1608delinsTG (p.Leu536=)
c.3839_3840delinsTG (p.Leu1280=)
c.3791_3792delinsTG (p.Leu1264=)
c.3560_3561delinsTG (p.Leu1187=)
c.3461_3462delinsTG (p.Leu1154=)
c.2642_2643delinsTG (p.Leu881=)
n.4193_4194delinsTG
13g.51937323delCA916083352ATP7Bc.*1624del (n.*1624del)
c.*2718del (n.*2718del)
c.3353del (p.Leu1118ArgfsTer5)
c.3974del (p.Leu1325ArgfsTer5)
c.3641del (p.Leu1214ArgfsTer5)
c.3722del (p.Leu1241ArgfsTer5)
n.1297del
c.3740del (p.Leu1247ArgfsTer5)
n.4113del
n.840del
c.2909del (p.Leu970ArgfsTer5)
c.2684del (p.Leu895ArgfsTer5)
c.3779del (p.Leu1260ArgfsTer5)
c.1752del
c.*1075del (n.*1075del)
n.4718del
n.3319del
c.3830del (p.Leu1277ArgfsTer5)
c.3878del (p.Leu1293ArgfsTer5)
c.3938del (p.Leu1313ArgfsTer5)
c.3488del (p.Leu1163ArgfsTer5)
c.1790del (p.Leu597ArgfsTer5)
c.1607del (p.Leu536ArgfsTer5)
c.3839del (p.Leu1280ArgfsTer5)
c.3791del (p.Leu1264ArgfsTer5)
c.3560del (p.Leu1187ArgfsTer5)
c.3461del (p.Leu1154ArgfsTer5)
c.2642del (p.Leu881ArgfsTer5)
n.4193del
 ClinVar dbSNP gnomAD v4
13g.51937323A>CCA388020986ATP7Bc.*1624T>G (n.*1624T>G)
c.*2718T>G (n.*2718T>G)
c.3353T>G (p.Leu1118Arg)
c.3974T>G (p.Leu1325Arg)
c.3641T>G (p.Leu1214Arg)
c.3722T>G (p.Leu1241Arg)
n.1297T>G
c.3740T>G (p.Leu1247Arg)
n.4113T>G
n.840T>G
c.2909T>G (p.Leu970Arg)
c.2684T>G (p.Leu895Arg)
c.3779T>G (p.Leu1260Arg)
c.1752T>G
c.*1075T>G (n.*1075T>G)
n.4718T>G
n.3319T>G
c.3830T>G (p.Leu1277Arg)
c.3878T>G (p.Leu1293Arg)
c.3938T>G (p.Leu1313Arg)
c.3488T>G (p.Leu1163Arg)
c.1790T>G (p.Leu597Arg)
c.1607T>G (p.Leu536Arg)
c.3839T>G (p.Leu1280Arg)
c.3791T>G (p.Leu1264Arg)
c.3560T>G (p.Leu1187Arg)
c.3461T>G (p.Leu1154Arg)
c.2642T>G (p.Leu881Arg)
n.4193T>G
13g.51937323A>GCA388020987ATP7Bc.*1624T>C (n.*1624T>C)
c.*2718T>C (n.*2718T>C)
c.3353T>C (p.Leu1118Pro)
c.3974T>C (p.Leu1325Pro)
c.3641T>C (p.Leu1214Pro)
c.3722T>C (p.Leu1241Pro)
n.1297T>C
c.3740T>C (p.Leu1247Pro)
n.4113T>C
n.840T>C
c.2909T>C (p.Leu970Pro)
c.2684T>C (p.Leu895Pro)
c.3779T>C (p.Leu1260Pro)
c.1752T>C
c.*1075T>C (n.*1075T>C)
n.4718T>C
n.3319T>C
c.3830T>C (p.Leu1277Pro)
c.3878T>C (p.Leu1293Pro)
c.3938T>C (p.Leu1313Pro)
c.3488T>C (p.Leu1163Pro)
c.1790T>C (p.Leu597Pro)
c.1607T>C (p.Leu536Pro)
c.3839T>C (p.Leu1280Pro)
c.3791T>C (p.Leu1264Pro)
c.3560T>C (p.Leu1187Pro)
c.3461T>C (p.Leu1154Pro)
c.2642T>C (p.Leu881Pro)
n.4193T>C
13g.51937323A>TCA388020988ATP7Bc.*1624T>A (n.*1624T>A)
c.*2718T>A (n.*2718T>A)
c.3353T>A (p.Leu1118Gln)
c.3974T>A (p.Leu1325Gln)
c.3641T>A (p.Leu1214Gln)
c.3722T>A (p.Leu1241Gln)
n.1297T>A
c.3740T>A (p.Leu1247Gln)
n.4113T>A
n.840T>A
c.2909T>A (p.Leu970Gln)
c.2684T>A (p.Leu895Gln)
c.3779T>A (p.Leu1260Gln)
c.1752T>A
c.*1075T>A (n.*1075T>A)
n.4718T>A
n.3319T>A
c.3830T>A (p.Leu1277Gln)
c.3878T>A (p.Leu1293Gln)
c.3938T>A (p.Leu1313Gln)
c.3488T>A (p.Leu1163Gln)
c.1790T>A (p.Leu597Gln)
c.1607T>A (p.Leu536Gln)
c.3839T>A (p.Leu1280Gln)
c.3791T>A (p.Leu1264Gln)
c.3560T>A (p.Leu1187Gln)
c.3461T>A (p.Leu1154Gln)
c.2642T>A (p.Leu881Gln)
n.4193T>A
13g.51937324G>ACA250073343ATP7Bc.*1623C>T (n.*1623C>T)
c.*2717C>T (n.*2717C>T)
c.3352C>T (p.Leu1118=)
c.3973C>T (p.Leu1325=)
c.3640C>T (p.Leu1214=)
c.3721C>T (p.Leu1241=)
n.1296C>T
c.3739C>T (p.Leu1247=)
n.4112C>T
n.839C>T
c.2908C>T (p.Leu970=)
c.2683C>T (p.Leu895=)
c.3778C>T (p.Leu1260=)
c.1751C>T
c.*1074C>T (n.*1074C>T)
n.4717C>T
n.3318C>T
c.3829C>T (p.Leu1277=)
c.3877C>T (p.Leu1293=)
c.3937C>T (p.Leu1313=)
c.3487C>T (p.Leu1163=)
c.1789C>T (p.Leu597=)
c.1606C>T (p.Leu536=)
c.3838C>T (p.Leu1280=)
c.3790C>T (p.Leu1264=)
c.3559C>T (p.Leu1187=)
c.3460C>T (p.Leu1154=)
c.2641C>T (p.Leu881=)
n.4192C>T
 dbSNP
13g.51937324G>CCA388020990ATP7Bc.*1623C>G (n.*1623C>G)
c.*2717C>G (n.*2717C>G)
c.3352C>G (p.Leu1118Val)
c.3973C>G (p.Leu1325Val)
c.3640C>G (p.Leu1214Val)
c.3721C>G (p.Leu1241Val)
n.1296C>G
c.3739C>G (p.Leu1247Val)
n.4112C>G
n.839C>G
c.2908C>G (p.Leu970Val)
c.2683C>G (p.Leu895Val)
c.3778C>G (p.Leu1260Val)
c.1751C>G
c.*1074C>G (n.*1074C>G)
n.4717C>G
n.3318C>G
c.3829C>G (p.Leu1277Val)
c.3877C>G (p.Leu1293Val)
c.3937C>G (p.Leu1313Val)
c.3487C>G (p.Leu1163Val)
c.1789C>G (p.Leu597Val)
c.1606C>G (p.Leu536Val)
c.3838C>G (p.Leu1280Val)
c.3790C>G (p.Leu1264Val)
c.3559C>G (p.Leu1187Val)
c.3460C>G (p.Leu1154Val)
c.2641C>G (p.Leu881Val)
n.4192C>G
 dbSNP gnomAD v2 gnomAD v4
13g.51937324G=CA2091553398ATP7Bc.*1623C= (n.*1623C=)
c.*2717C= (n.*2717C=)
c.3352C= (p.Leu1118=)
c.3973C= (p.Leu1325=)
c.3640C= (p.Leu1214=)
c.3721C= (p.Leu1241=)
n.1296C=
c.3739C= (p.Leu1247=)
n.4112C=
n.839C=
c.2908C= (p.Leu970=)
c.2683C= (p.Leu895=)
c.3778C= (p.Leu1260=)
c.1751C=
c.*1074C= (n.*1074C=)
n.4717C=
n.3318C=
c.3829C= (p.Leu1277=)
c.3877C= (p.Leu1293=)
c.3937C= (p.Leu1313=)
c.3487C= (p.Leu1163=)
c.1789C= (p.Leu597=)
c.1606C= (p.Leu536=)
c.3838C= (p.Leu1280=)
c.3790C= (p.Leu1264=)
c.3559C= (p.Leu1187=)
c.3460C= (p.Leu1154=)
c.2641C= (p.Leu881=)
n.4192C=
13g.51937324G>TCA388020989ATP7Bc.*1623C>A (n.*1623C>A)
c.*2717C>A (n.*2717C>A)
c.3352C>A (p.Leu1118Met)
c.3973C>A (p.Leu1325Met)
c.3640C>A (p.Leu1214Met)
c.3721C>A (p.Leu1241Met)
n.1296C>A
c.3739C>A (p.Leu1247Met)
n.4112C>A
n.839C>A
c.2908C>A (p.Leu970Met)
c.2683C>A (p.Leu895Met)
c.3778C>A (p.Leu1260Met)
c.1751C>A
c.*1074C>A (n.*1074C>A)
n.4717C>A
n.3318C>A
c.3829C>A (p.Leu1277Met)
c.3877C>A (p.Leu1293Met)
c.3937C>A (p.Leu1313Met)
c.3487C>A (p.Leu1163Met)
c.1789C>A (p.Leu597Met)
c.1606C>A (p.Leu536Met)
c.3838C>A (p.Leu1280Met)
c.3790C>A (p.Leu1264Met)
c.3559C>A (p.Leu1187Met)
c.3460C>A (p.Leu1154Met)
c.2641C>A (p.Leu881Met)
n.4192C>A
13g.51937325dupCA2695218733ATP7Bc.*1623dup (n.*1623dup)
c.*2717dup (n.*2717dup)
c.3352dup (p.Leu1118ProfsTer8)
c.3973dup (p.Leu1325ProfsTer8)
c.3640dup (p.Leu1214ProfsTer8)
c.3721dup (p.Leu1241ProfsTer8)
n.1296dup
c.3739dup (p.Leu1247ProfsTer8)
n.4112dup
n.839dup
c.2908dup (p.Leu970ProfsTer8)
c.2683dup (p.Leu895ProfsTer8)
c.3778dup (p.Leu1260ProfsTer8)
c.1751dup
c.*1074dup (n.*1074dup)
n.4717dup
n.3318dup
c.3829dup (p.Leu1277ProfsTer8)
c.3877dup (p.Leu1293ProfsTer8)
c.3937dup (p.Leu1313ProfsTer8)
c.3487dup (p.Leu1163ProfsTer8)
c.1789dup (p.Leu597ProfsTer8)
c.1606dup (p.Leu536ProfsTer8)
c.3838dup (p.Leu1280ProfsTer8)
c.3790dup (p.Leu1264ProfsTer8)
c.3559dup (p.Leu1187ProfsTer8)
c.3460dup (p.Leu1154ProfsTer8)
c.2641dup (p.Leu881ProfsTer8)
n.4192dup
13g.51937325delCA2695218732ATP7Bc.*1623del (n.*1623del)
c.*2717del (n.*2717del)
c.3352del (p.Leu1118TrpfsTer5)
c.3973del (p.Leu1325TrpfsTer5)
c.3640del (p.Leu1214TrpfsTer5)
c.3721del (p.Leu1241TrpfsTer5)
n.1296del
c.3739del (p.Leu1247TrpfsTer5)
n.4112del
n.839del
c.2908del (p.Leu970TrpfsTer5)
c.2683del (p.Leu895TrpfsTer5)
c.3778del (p.Leu1260TrpfsTer5)
c.1751del
c.*1074del (n.*1074del)
n.4717del
n.3318del
c.3829del (p.Leu1277TrpfsTer5)
c.3877del (p.Leu1293TrpfsTer5)
c.3937del (p.Leu1313TrpfsTer5)
c.3487del (p.Leu1163TrpfsTer5)
c.1789del (p.Leu597TrpfsTer5)
c.1606del (p.Leu536TrpfsTer5)
c.3838del (p.Leu1280TrpfsTer5)
c.3790del (p.Leu1264TrpfsTer5)
c.3559del (p.Leu1187TrpfsTer5)
c.3460del (p.Leu1154TrpfsTer5)
c.2641del (p.Leu881TrpfsTer5)
n.4192del
13g.51937325G>ACA483893492ATP7Bc.*1622C>T (n.*1622C>T)
c.*2716C>T (n.*2716C>T)
c.3351C>T (p.Asn1117=)
c.3972C>T (p.Asn1324=)
c.3639C>T (p.Asn1213=)
c.3720C>T (p.Asn1240=)
n.1295C>T
c.3738C>T (p.Asn1246=)
n.4111C>T
n.838C>T
c.2907C>T (p.Asn969=)
c.2682C>T (p.Asn894=)
c.3777C>T (p.Asn1259=)
c.1750C>T
c.*1073C>T (n.*1073C>T)
n.4716C>T
n.3317C>T
c.3828C>T (p.Asn1276=)
c.3876C>T (p.Asn1292=)
c.3936C>T (p.Asn1312=)
c.3486C>T (p.Asn1162=)
c.1788C>T (p.Asn596=)
c.1605C>T (p.Asn535=)
c.3837C>T (p.Asn1279=)
c.3789C>T (p.Asn1263=)
c.3558C>T (p.Asn1186=)
c.3459C>T (p.Asn1153=)
c.2640C>T (p.Asn880=)
n.4191C>T
13g.51937325G>CCA388020993ATP7Bc.*1622C>G (n.*1622C>G)
c.*2716C>G (n.*2716C>G)
c.3351C>G (p.Asn1117Lys)
c.3972C>G (p.Asn1324Lys)
c.3639C>G (p.Asn1213Lys)
c.3720C>G (p.Asn1240Lys)
n.1295C>G
c.3738C>G (p.Asn1246Lys)
n.4111C>G
n.838C>G
c.2907C>G (p.Asn969Lys)
c.2682C>G (p.Asn894Lys)
c.3777C>G (p.Asn1259Lys)
c.1750C>G
c.*1073C>G (n.*1073C>G)
n.4716C>G
n.3317C>G
c.3828C>G (p.Asn1276Lys)
c.3876C>G (p.Asn1292Lys)
c.3936C>G (p.Asn1312Lys)
c.3486C>G (p.Asn1162Lys)
c.1788C>G (p.Asn596Lys)
c.1605C>G (p.Asn535Lys)
c.3837C>G (p.Asn1279Lys)
c.3789C>G (p.Asn1263Lys)
c.3558C>G (p.Asn1186Lys)
c.3459C>G (p.Asn1153Lys)
c.2640C>G (p.Asn880Lys)
n.4191C>G
13g.51937325G>TCA388020995ATP7Bc.*1622C>A (n.*1622C>A)
c.*2716C>A (n.*2716C>A)
c.3351C>A (p.Asn1117Lys)
c.3972C>A (p.Asn1324Lys)
c.3639C>A (p.Asn1213Lys)
c.3720C>A (p.Asn1240Lys)
n.1295C>A
c.3738C>A (p.Asn1246Lys)
n.4111C>A
n.838C>A
c.2907C>A (p.Asn969Lys)
c.2682C>A (p.Asn894Lys)
c.3777C>A (p.Asn1259Lys)
c.1750C>A
c.*1073C>A (n.*1073C>A)
n.4716C>A
n.3317C>A
c.3828C>A (p.Asn1276Lys)
c.3876C>A (p.Asn1292Lys)
c.3936C>A (p.Asn1312Lys)
c.3486C>A (p.Asn1162Lys)
c.1788C>A (p.Asn596Lys)
c.1605C>A (p.Asn535Lys)
c.3837C>A (p.Asn1279Lys)
c.3789C>A (p.Asn1263Lys)
c.3558C>A (p.Asn1186Lys)
c.3459C>A (p.Asn1153Lys)
c.2640C>A (p.Asn880Lys)
n.4191C>A
13g.51937326T>ACA388020998ATP7Bc.*1621A>T (n.*1621A>T)
c.*2715A>T (n.*2715A>T)
c.3350A>T (p.Asn1117Ile)
c.3971A>T (p.Asn1324Ile)
c.3638A>T (p.Asn1213Ile)
c.3719A>T (p.Asn1240Ile)
n.1294A>T
c.3737A>T (p.Asn1246Ile)
n.4110A>T
n.837A>T
c.2906A>T (p.Asn969Ile)
c.2681A>T (p.Asn894Ile)
c.3776A>T (p.Asn1259Ile)
c.1749A>T
c.*1072A>T (n.*1072A>T)
n.4715A>T
n.3316A>T
c.3827A>T (p.Asn1276Ile)
c.3875A>T (p.Asn1292Ile)
c.3935A>T (p.Asn1312Ile)
c.3485A>T (p.Asn1162Ile)
c.1787A>T (p.Asn596Ile)
c.1604A>T (p.Asn535Ile)
c.3836A>T (p.Asn1279Ile)
c.3788A>T (p.Asn1263Ile)
c.3557A>T (p.Asn1186Ile)
c.3458A>T (p.Asn1153Ile)
c.2639A>T (p.Asn880Ile)
n.4190A>T
 dbSNP
13g.51937326T>CCA6988522ATP7Bc.*1621A>G (n.*1621A>G)
c.*2715A>G (n.*2715A>G)
c.3350A>G (p.Asn1117Ser)
c.3971A>G (p.Asn1324Ser)
c.3638A>G (p.Asn1213Ser)
c.3719A>G (p.Asn1240Ser)
n.1294A>G
c.3737A>G (p.Asn1246Ser)
n.4110A>G
n.837A>G
c.2906A>G (p.Asn969Ser)
c.2681A>G (p.Asn894Ser)
c.3776A>G (p.Asn1259Ser)
c.1749A>G
c.*1072A>G (n.*1072A>G)
n.4715A>G
n.3316A>G
c.3827A>G (p.Asn1276Ser)
c.3875A>G (p.Asn1292Ser)
c.3935A>G (p.Asn1312Ser)
c.3485A>G (p.Asn1162Ser)
c.1787A>G (p.Asn596Ser)
c.1604A>G (p.Asn535Ser)
c.3836A>G (p.Asn1279Ser)
c.3788A>G (p.Asn1263Ser)
c.3557A>G (p.Asn1186Ser)
c.3458A>G (p.Asn1153Ser)
c.2639A>G (p.Asn880Ser)
n.4190A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51937326T>GCA388021001ATP7Bc.*1621A>C (n.*1621A>C)
c.*2715A>C (n.*2715A>C)
c.3350A>C (p.Asn1117Thr)
c.3971A>C (p.Asn1324Thr)
c.3638A>C (p.Asn1213Thr)
c.3719A>C (p.Asn1240Thr)
n.1294A>C
c.3737A>C (p.Asn1246Thr)
n.4110A>C
n.837A>C
c.2906A>C (p.Asn969Thr)
c.2681A>C (p.Asn894Thr)
c.3776A>C (p.Asn1259Thr)
c.1749A>C
c.*1072A>C (n.*1072A>C)
n.4715A>C
n.3316A>C
c.3827A>C (p.Asn1276Thr)
c.3875A>C (p.Asn1292Thr)
c.3935A>C (p.Asn1312Thr)
c.3485A>C (p.Asn1162Thr)
c.1787A>C (p.Asn596Thr)
c.1604A>C (p.Asn535Thr)
c.3836A>C (p.Asn1279Thr)
c.3788A>C (p.Asn1263Thr)
c.3557A>C (p.Asn1186Thr)
c.3458A>C (p.Asn1153Thr)
c.2639A>C (p.Asn880Thr)
n.4190A>C
 ClinVar dbSNP
13g.51937326T=CA2091553406ATP7Bc.*1621A= (n.*1621A=)
c.*2715A= (n.*2715A=)
c.3350A= (p.Asn1117=)
c.3971A= (p.Asn1324=)
c.3638A= (p.Asn1213=)
c.3719A= (p.Asn1240=)
n.1294A=
c.3737A= (p.Asn1246=)
n.4110A=
n.837A=
c.2906A= (p.Asn969=)
c.2681A= (p.Asn894=)
c.3776A= (p.Asn1259=)
c.1749A=
c.*1072A= (n.*1072A=)
n.4715A=
n.3316A=
c.3827A= (p.Asn1276=)
c.3875A= (p.Asn1292=)
c.3935A= (p.Asn1312=)
c.3485A= (p.Asn1162=)
c.1787A= (p.Asn596=)
c.1604A= (p.Asn535=)
c.3836A= (p.Asn1279=)
c.3788A= (p.Asn1263=)
c.3557A= (p.Asn1186=)
c.3458A= (p.Asn1153=)
c.2639A= (p.Asn880=)
n.4190A=
13g.51937327T>ACA388021006ATP7Bc.*1620A>T (n.*1620A>T)
c.*2714A>T (n.*2714A>T)
c.3349A>T (p.Asn1117Tyr)
c.3970A>T (p.Asn1324Tyr)
c.3637A>T (p.Asn1213Tyr)
c.3718A>T (p.Asn1240Tyr)
n.1293A>T
c.3736A>T (p.Asn1246Tyr)
n.4109A>T
n.836A>T
c.2905A>T (p.Asn969Tyr)
c.2680A>T (p.Asn894Tyr)
c.3775A>T (p.Asn1259Tyr)
c.1748A>T
c.*1071A>T (n.*1071A>T)
n.4714A>T
n.3315A>T
c.3826A>T (p.Asn1276Tyr)
c.3874A>T (p.Asn1292Tyr)
c.3934A>T (p.Asn1312Tyr)
c.3484A>T (p.Asn1162Tyr)
c.1786A>T (p.Asn596Tyr)
c.1603A>T (p.Asn535Tyr)
c.3835A>T (p.Asn1279Tyr)
c.3787A>T (p.Asn1263Tyr)
c.3556A>T (p.Asn1186Tyr)
c.3457A>T (p.Asn1153Tyr)
c.2638A>T (p.Asn880Tyr)
n.4189A>T
13g.51937327T>CCA388021008ATP7Bc.*1620A>G (n.*1620A>G)
c.*2714A>G (n.*2714A>G)
c.3349A>G (p.Asn1117Asp)
c.3970A>G (p.Asn1324Asp)
c.3637A>G (p.Asn1213Asp)
c.3718A>G (p.Asn1240Asp)
n.1293A>G
c.3736A>G (p.Asn1246Asp)
n.4109A>G
n.836A>G
c.2905A>G (p.Asn969Asp)
c.2680A>G (p.Asn894Asp)
c.3775A>G (p.Asn1259Asp)
c.1748A>G
c.*1071A>G (n.*1071A>G)
n.4714A>G
n.3315A>G
c.3826A>G (p.Asn1276Asp)
c.3874A>G (p.Asn1292Asp)
c.3934A>G (p.Asn1312Asp)
c.3484A>G (p.Asn1162Asp)
c.1786A>G (p.Asn596Asp)
c.1603A>G (p.Asn535Asp)
c.3835A>G (p.Asn1279Asp)
c.3787A>G (p.Asn1263Asp)
c.3556A>G (p.Asn1186Asp)
c.3457A>G (p.Asn1153Asp)
c.2638A>G (p.Asn880Asp)
n.4189A>G
13g.51937327T>GCA388021004ATP7Bc.*1620A>C (n.*1620A>C)
c.*2714A>C (n.*2714A>C)
c.3349A>C (p.Asn1117His)
c.3970A>C (p.Asn1324His)
c.3637A>C (p.Asn1213His)
c.3718A>C (p.Asn1240His)
n.1293A>C
c.3736A>C (p.Asn1246His)
n.4109A>C
n.836A>C
c.2905A>C (p.Asn969His)
c.2680A>C (p.Asn894His)
c.3775A>C (p.Asn1259His)
c.1748A>C
c.*1071A>C (n.*1071A>C)
n.4714A>C
n.3315A>C
c.3826A>C (p.Asn1276His)
c.3874A>C (p.Asn1292His)
c.3934A>C (p.Asn1312His)
c.3484A>C (p.Asn1162His)
c.1786A>C (p.Asn596His)
c.1603A>C (p.Asn535His)
c.3835A>C (p.Asn1279His)
c.3787A>C (p.Asn1263His)
c.3556A>C (p.Asn1186His)
c.3457A>C (p.Asn1153His)
c.2638A>C (p.Asn880His)
n.4189A>C
 gnomAD v4
13g.51937328G>ACA483893494ATP7Bc.*1619C>T (n.*1619C>T)
c.*2713C>T (n.*2713C>T)
c.3348C>T (p.Ile1116=)
c.3969C>T (p.Ile1323=)
c.3636C>T (p.Ile1212=)
c.3717C>T (p.Ile1239=)
n.1292C>T
c.3735C>T (p.Ile1245=)
n.4108C>T
n.835C>T
c.2904C>T (p.Ile968=)
c.2679C>T (p.Ile893=)
c.3774C>T (p.Ile1258=)
c.1747C>T
c.*1070C>T (n.*1070C>T)
n.4713C>T
n.3314C>T
c.3825C>T (p.Ile1275=)
c.3873C>T (p.Ile1291=)
c.3933C>T (p.Ile1311=)
c.3483C>T (p.Ile1161=)
c.1785C>T (p.Ile595=)
c.1602C>T (p.Ile534=)
c.3834C>T (p.Ile1278=)
c.3786C>T (p.Ile1262=)
c.3555C>T (p.Ile1185=)
c.3456C>T (p.Ile1152=)
c.2637C>T (p.Ile879=)
n.4188C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51937328G>CCA388021012ATP7Bc.*1619C>G (n.*1619C>G)
c.*2713C>G (n.*2713C>G)
c.3348C>G (p.Ile1116Met)
c.3969C>G (p.Ile1323Met)
c.3636C>G (p.Ile1212Met)
c.3717C>G (p.Ile1239Met)
n.1292C>G
c.3735C>G (p.Ile1245Met)
n.4108C>G
n.835C>G
c.2904C>G (p.Ile968Met)
c.2679C>G (p.Ile893Met)
c.3774C>G (p.Ile1258Met)
c.1747C>G
c.*1070C>G (n.*1070C>G)
n.4713C>G
n.3314C>G
c.3825C>G (p.Ile1275Met)
c.3873C>G (p.Ile1291Met)
c.3933C>G (p.Ile1311Met)
c.3483C>G (p.Ile1161Met)
c.1785C>G (p.Ile595Met)
c.1602C>G (p.Ile534Met)
c.3834C>G (p.Ile1278Met)
c.3786C>G (p.Ile1262Met)
c.3555C>G (p.Ile1185Met)
c.3456C>G (p.Ile1152Met)
c.2637C>G (p.Ile879Met)
n.4188C>G
13g.51937328G=CA2091553413ATP7Bc.*1619C= (n.*1619C=)
c.*2713C= (n.*2713C=)
c.3348C= (p.Ile1116=)
c.3969C= (p.Ile1323=)
c.3636C= (p.Ile1212=)
c.3717C= (p.Ile1239=)
n.1292C=
c.3735C= (p.Ile1245=)
n.4108C=
n.835C=
c.2904C= (p.Ile968=)
c.2679C= (p.Ile893=)
c.3774C= (p.Ile1258=)
c.1747C=
c.*1070C= (n.*1070C=)
n.4713C=
n.3314C=
c.3825C= (p.Ile1275=)
c.3873C= (p.Ile1291=)
c.3933C= (p.Ile1311=)
c.3483C= (p.Ile1161=)
c.1785C= (p.Ile595=)
c.1602C= (p.Ile534=)
c.3834C= (p.Ile1278=)
c.3786C= (p.Ile1262=)
c.3555C= (p.Ile1185=)
c.3456C= (p.Ile1152=)
c.2637C= (p.Ile879=)
n.4188C=
13g.51937328G>TCA483893493ATP7Bc.*1619C>A (n.*1619C>A)
c.*2713C>A (n.*2713C>A)
c.3348C>A (p.Ile1116=)
c.3969C>A (p.Ile1323=)
c.3636C>A (p.Ile1212=)
c.3717C>A (p.Ile1239=)
n.1292C>A
c.3735C>A (p.Ile1245=)
n.4108C>A
n.835C>A
c.2904C>A (p.Ile968=)
c.2679C>A (p.Ile893=)
c.3774C>A (p.Ile1258=)
c.1747C>A
c.*1070C>A (n.*1070C>A)
n.4713C>A
n.3314C>A
c.3825C>A (p.Ile1275=)
c.3873C>A (p.Ile1291=)
c.3933C>A (p.Ile1311=)
c.3483C>A (p.Ile1161=)
c.1785C>A (p.Ile595=)
c.1602C>A (p.Ile534=)
c.3834C>A (p.Ile1278=)
c.3786C>A (p.Ile1262=)
c.3555C>A (p.Ile1185=)
c.3456C>A (p.Ile1152=)
c.2637C>A (p.Ile879=)
n.4188C>A
13g.51937329A>CCA388021023ATP7Bc.*1618T>G (n.*1618T>G)
c.*2712T>G (n.*2712T>G)
c.3347T>G (p.Ile1116Ser)
c.3968T>G (p.Ile1323Ser)
c.3635T>G (p.Ile1212Ser)
c.3716T>G (p.Ile1239Ser)
n.1291T>G
c.3734T>G (p.Ile1245Ser)
n.4107T>G
n.834T>G
c.2903T>G (p.Ile968Ser)
c.2678T>G (p.Ile893Ser)
c.3773T>G (p.Ile1258Ser)
c.1746T>G
c.*1069T>G (n.*1069T>G)
n.4712T>G
n.3313T>G
c.3824T>G (p.Ile1275Ser)
c.3872T>G (p.Ile1291Ser)
c.3932T>G (p.Ile1311Ser)
c.3482T>G (p.Ile1161Ser)
c.1784T>G (p.Ile595Ser)
c.1601T>G (p.Ile534Ser)
c.3833T>G (p.Ile1278Ser)
c.3785T>G (p.Ile1262Ser)
c.3554T>G (p.Ile1185Ser)
c.3455T>G (p.Ile1152Ser)
c.2636T>G (p.Ile879Ser)
n.4187T>G
13g.51937329A>GCA388021017ATP7Bc.*1618T>C (n.*1618T>C)
c.*2712T>C (n.*2712T>C)
c.3347T>C (p.Ile1116Thr)
c.3968T>C (p.Ile1323Thr)
c.3635T>C (p.Ile1212Thr)
c.3716T>C (p.Ile1239Thr)
n.1291T>C
c.3734T>C (p.Ile1245Thr)
n.4107T>C
n.834T>C
c.2903T>C (p.Ile968Thr)
c.2678T>C (p.Ile893Thr)
c.3773T>C (p.Ile1258Thr)
c.1746T>C
c.*1069T>C (n.*1069T>C)
n.4712T>C
n.3313T>C
c.3824T>C (p.Ile1275Thr)
c.3872T>C (p.Ile1291Thr)
c.3932T>C (p.Ile1311Thr)
c.3482T>C (p.Ile1161Thr)
c.1784T>C (p.Ile595Thr)
c.1601T>C (p.Ile534Thr)
c.3833T>C (p.Ile1278Thr)
c.3785T>C (p.Ile1262Thr)
c.3554T>C (p.Ile1185Thr)
c.3455T>C (p.Ile1152Thr)
c.2636T>C (p.Ile879Thr)
n.4187T>C
13g.51937329A>TCA388021020ATP7Bc.*1618T>A (n.*1618T>A)
c.*2712T>A (n.*2712T>A)
c.3347T>A (p.Ile1116Asn)
c.3968T>A (p.Ile1323Asn)
c.3635T>A (p.Ile1212Asn)
c.3716T>A (p.Ile1239Asn)
n.1291T>A
c.3734T>A (p.Ile1245Asn)
n.4107T>A
n.834T>A
c.2903T>A (p.Ile968Asn)
c.2678T>A (p.Ile893Asn)
c.3773T>A (p.Ile1258Asn)
c.1746T>A
c.*1069T>A (n.*1069T>A)
n.4712T>A
n.3313T>A
c.3824T>A (p.Ile1275Asn)
c.3872T>A (p.Ile1291Asn)
c.3932T>A (p.Ile1311Asn)
c.3482T>A (p.Ile1161Asn)
c.1784T>A (p.Ile595Asn)
c.1601T>A (p.Ile534Asn)
c.3833T>A (p.Ile1278Asn)
c.3785T>A (p.Ile1262Asn)
c.3554T>A (p.Ile1185Asn)
c.3455T>A (p.Ile1152Asn)
c.2636T>A (p.Ile879Asn)
n.4187T>A
13g.51937330T>ACA388021027ATP7Bc.*1617A>T (n.*1617A>T)
c.*2711A>T (n.*2711A>T)
c.3346A>T (p.Ile1116Phe)
c.3967A>T (p.Ile1323Phe)
c.3634A>T (p.Ile1212Phe)
c.3715A>T (p.Ile1239Phe)
n.1290A>T
c.3733A>T (p.Ile1245Phe)
n.4106A>T
n.833A>T
c.2902A>T (p.Ile968Phe)
c.2677A>T (p.Ile893Phe)
c.3772A>T (p.Ile1258Phe)
c.1745A>T
c.*1068A>T (n.*1068A>T)
n.4711A>T
n.3312A>T
c.3823A>T (p.Ile1275Phe)
c.3871A>T (p.Ile1291Phe)
c.3931A>T (p.Ile1311Phe)
c.3481A>T (p.Ile1161Phe)
c.1783A>T (p.Ile595Phe)
c.1600A>T (p.Ile534Phe)
c.3832A>T (p.Ile1278Phe)
c.3784A>T (p.Ile1262Phe)
c.3553A>T (p.Ile1185Phe)
c.3454A>T (p.Ile1152Phe)
c.2635A>T (p.Ile879Phe)
n.4186A>T
13g.51937330T>CCA6988523ATP7Bc.*1617A>G (n.*1617A>G)
c.*2711A>G (n.*2711A>G)
c.3346A>G (p.Ile1116Val)
c.3967A>G (p.Ile1323Val)
c.3634A>G (p.Ile1212Val)
c.3715A>G (p.Ile1239Val)
n.1290A>G
c.3733A>G (p.Ile1245Val)
n.4106A>G
n.833A>G
c.2902A>G (p.Ile968Val)
c.2677A>G (p.Ile893Val)
c.3772A>G (p.Ile1258Val)
c.1745A>G
c.*1068A>G (n.*1068A>G)
n.4711A>G
n.3312A>G
c.3823A>G (p.Ile1275Val)
c.3871A>G (p.Ile1291Val)
c.3931A>G (p.Ile1311Val)
c.3481A>G (p.Ile1161Val)
c.1783A>G (p.Ile595Val)
c.1600A>G (p.Ile534Val)
c.3832A>G (p.Ile1278Val)
c.3784A>G (p.Ile1262Val)
c.3553A>G (p.Ile1185Val)
c.3454A>G (p.Ile1152Val)
c.2635A>G (p.Ile879Val)
n.4186A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937330T>GCA388021032ATP7Bc.*1617A>C (n.*1617A>C)
c.*2711A>C (n.*2711A>C)
c.3346A>C (p.Ile1116Leu)
c.3967A>C (p.Ile1323Leu)
c.3634A>C (p.Ile1212Leu)
c.3715A>C (p.Ile1239Leu)
n.1290A>C
c.3733A>C (p.Ile1245Leu)
n.4106A>C
n.833A>C
c.2902A>C (p.Ile968Leu)
c.2677A>C (p.Ile893Leu)
c.3772A>C (p.Ile1258Leu)
c.1745A>C
c.*1068A>C (n.*1068A>C)
n.4711A>C
n.3312A>C
c.3823A>C (p.Ile1275Leu)
c.3871A>C (p.Ile1291Leu)
c.3931A>C (p.Ile1311Leu)
c.3481A>C (p.Ile1161Leu)
c.1783A>C (p.Ile595Leu)
c.1600A>C (p.Ile534Leu)
c.3832A>C (p.Ile1278Leu)
c.3784A>C (p.Ile1262Leu)
c.3553A>C (p.Ile1185Leu)
c.3454A>C (p.Ile1152Leu)
c.2635A>C (p.Ile879Leu)
n.4186A>C
 gnomAD v4
13g.51937330T=CA2091553419ATP7Bc.*1617A= (n.*1617A=)
c.*2711A= (n.*2711A=)
c.3346A= (p.Ile1116=)
c.3967A= (p.Ile1323=)
c.3634A= (p.Ile1212=)
c.3715A= (p.Ile1239=)
n.1290A=
c.3733A= (p.Ile1245=)
n.4106A=
n.833A=
c.2902A= (p.Ile968=)
c.2677A= (p.Ile893=)
c.3772A= (p.Ile1258=)
c.1745A=
c.*1068A= (n.*1068A=)
n.4711A=
n.3312A=
c.3823A= (p.Ile1275=)
c.3871A= (p.Ile1291=)
c.3931A= (p.Ile1311=)
c.3481A= (p.Ile1161=)
c.1783A= (p.Ile595=)
c.1600A= (p.Ile534=)
c.3832A= (p.Ile1278=)
c.3784A= (p.Ile1262=)
c.3553A= (p.Ile1185=)
c.3454A= (p.Ile1152=)
c.2635A= (p.Ile879=)
n.4186A=
13g.51937331G>ACA483893495ATP7Bc.*1616C>T (n.*1616C>T)
c.*2710C>T (n.*2710C>T)
c.3345C>T (p.Arg1115=)
c.3966C>T (p.Arg1322=)
c.3633C>T (p.Arg1211=)
c.3714C>T (p.Arg1238=)
n.1289C>T
c.3732C>T (p.Arg1244=)
n.4105C>T
n.832C>T
c.2901C>T (p.Arg967=)
c.2676C>T (p.Arg892=)
c.3771C>T (p.Arg1257=)
c.1744C>T
c.*1067C>T (n.*1067C>T)
n.4710C>T
n.3311C>T
c.3822C>T (p.Arg1274=)
c.3870C>T (p.Arg1290=)
c.3930C>T (p.Arg1310=)
c.3480C>T (p.Arg1160=)
c.1782C>T (p.Arg594=)
c.1599C>T (p.Arg533=)
c.3831C>T (p.Arg1277=)
c.3783C>T (p.Arg1261=)
c.3552C>T (p.Arg1184=)
c.3453C>T (p.Arg1151=)
c.2634C>T (p.Arg878=)
n.4185C>T
 gnomAD v4
13g.51937331G>CCA483893496ATP7Bc.*1616C>G (n.*1616C>G)
c.*2710C>G (n.*2710C>G)
c.3345C>G (p.Arg1115=)
c.3966C>G (p.Arg1322=)
c.3633C>G (p.Arg1211=)
c.3714C>G (p.Arg1238=)
n.1289C>G
c.3732C>G (p.Arg1244=)
n.4105C>G
n.832C>G
c.2901C>G (p.Arg967=)
c.2676C>G (p.Arg892=)
c.3771C>G (p.Arg1257=)
c.1744C>G
c.*1067C>G (n.*1067C>G)
n.4710C>G
n.3311C>G
c.3822C>G (p.Arg1274=)
c.3870C>G (p.Arg1290=)
c.3930C>G (p.Arg1310=)
c.3480C>G (p.Arg1160=)
c.1782C>G (p.Arg594=)
c.1599C>G (p.Arg533=)
c.3831C>G (p.Arg1277=)
c.3783C>G (p.Arg1261=)
c.3552C>G (p.Arg1184=)
c.3453C>G (p.Arg1151=)
c.2634C>G (p.Arg878=)
n.4185C>G
13g.51937331G>TCA483893497ATP7Bc.*1616C>A (n.*1616C>A)
c.*2710C>A (n.*2710C>A)
c.3345C>A (p.Arg1115=)
c.3966C>A (p.Arg1322=)
c.3633C>A (p.Arg1211=)
c.3714C>A (p.Arg1238=)
n.1289C>A
c.3732C>A (p.Arg1244=)
n.4105C>A
n.832C>A
c.2901C>A (p.Arg967=)
c.2676C>A (p.Arg892=)
c.3771C>A (p.Arg1257=)
c.1744C>A
c.*1067C>A (n.*1067C>A)
n.4710C>A
n.3311C>A
c.3822C>A (p.Arg1274=)
c.3870C>A (p.Arg1290=)
c.3930C>A (p.Arg1310=)
c.3480C>A (p.Arg1160=)
c.1782C>A (p.Arg594=)
c.1599C>A (p.Arg533=)
c.3831C>A (p.Arg1277=)
c.3783C>A (p.Arg1261=)
c.3552C>A (p.Arg1184=)
c.3453C>A (p.Arg1151=)
c.2634C>A (p.Arg878=)
n.4185C>A
13g.51937332C>ACA388021033ATP7Bc.*1615G>T (n.*1615G>T)
c.*2709G>T (n.*2709G>T)
c.3344G>T (p.Arg1115Leu)
c.3965G>T (p.Arg1322Leu)
c.3632G>T (p.Arg1211Leu)
c.3713G>T (p.Arg1238Leu)
n.1288G>T
c.3731G>T (p.Arg1244Leu)
n.4104G>T
n.831G>T
c.2900G>T (p.Arg967Leu)
c.2675G>T (p.Arg892Leu)
c.3770G>T (p.Arg1257Leu)
c.1743G>T
c.*1066G>T (n.*1066G>T)
n.4709G>T
n.3310G>T
c.3821G>T (p.Arg1274Leu)
c.3869G>T (p.Arg1290Leu)
c.3929G>T (p.Arg1310Leu)
c.3479G>T (p.Arg1160Leu)
c.1781G>T (p.Arg594Leu)
c.1598G>T (p.Arg533Leu)
c.3830G>T (p.Arg1277Leu)
c.3782G>T (p.Arg1261Leu)
c.3551G>T (p.Arg1184Leu)
c.3452G>T (p.Arg1151Leu)
c.2633G>T (p.Arg878Leu)
n.4184G>T
13g.51937332C=CA2091553426ATP7Bc.*1615G= (n.*1615G=)
c.*2709G= (n.*2709G=)
c.3344G= (p.Arg1115=)
c.3965G= (p.Arg1322=)
c.3632G= (p.Arg1211=)
c.3713G= (p.Arg1238=)
n.1288G=
c.3731G= (p.Arg1244=)
n.4104G=
n.831G=
c.2900G= (p.Arg967=)
c.2675G= (p.Arg892=)
c.3770G= (p.Arg1257=)
c.1743G=
c.*1066G= (n.*1066G=)
n.4709G=
n.3310G=
c.3821G= (p.Arg1274=)
c.3869G= (p.Arg1290=)
c.3929G= (p.Arg1310=)
c.3479G= (p.Arg1160=)
c.1781G= (p.Arg594=)
c.1598G= (p.Arg533=)
c.3830G= (p.Arg1277=)
c.3782G= (p.Arg1261=)
c.3551G= (p.Arg1184=)
c.3452G= (p.Arg1151=)
c.2633G= (p.Arg878=)
n.4184G=
13g.51937332C>GCA250073357ATP7Bc.*1615G>C (n.*1615G>C)
c.*2709G>C (n.*2709G>C)
c.3344G>C (p.Arg1115Pro)
c.3965G>C (p.Arg1322Pro)
c.3632G>C (p.Arg1211Pro)
c.3713G>C (p.Arg1238Pro)
n.1288G>C
c.3731G>C (p.Arg1244Pro)
n.4104G>C
n.831G>C
c.2900G>C (p.Arg967Pro)
c.2675G>C (p.Arg892Pro)
c.3770G>C (p.Arg1257Pro)
c.1743G>C
c.*1066G>C (n.*1066G>C)
n.4709G>C
n.3310G>C
c.3821G>C (p.Arg1274Pro)
c.3869G>C (p.Arg1290Pro)
c.3929G>C (p.Arg1310Pro)
c.3479G>C (p.Arg1160Pro)
c.1781G>C (p.Arg594Pro)
c.1598G>C (p.Arg533Pro)
c.3830G>C (p.Arg1277Pro)
c.3782G>C (p.Arg1261Pro)
c.3551G>C (p.Arg1184Pro)
c.3452G>C (p.Arg1151Pro)
c.2633G>C (p.Arg878Pro)
n.4184G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51937332C>TCA6988524ATP7Bc.*1615G>A (n.*1615G>A)
c.*2709G>A (n.*2709G>A)
c.3344G>A (p.Arg1115His)
c.3965G>A (p.Arg1322His)
c.3632G>A (p.Arg1211His)
c.3713G>A (p.Arg1238His)
n.1288G>A
c.3731G>A (p.Arg1244His)
n.4104G>A
n.831G>A
c.2900G>A (p.Arg967His)
c.2675G>A (p.Arg892His)
c.3770G>A (p.Arg1257His)
c.1743G>A
c.*1066G>A (n.*1066G>A)
n.4709G>A
n.3310G>A
c.3821G>A (p.Arg1274His)
c.3869G>A (p.Arg1290His)
c.3929G>A (p.Arg1310His)
c.3479G>A (p.Arg1160His)
c.1781G>A (p.Arg594His)
c.1598G>A (p.Arg533His)
c.3830G>A (p.Arg1277His)
c.3782G>A (p.Arg1261His)
c.3551G>A (p.Arg1184His)
c.3452G>A (p.Arg1151His)
c.2633G>A (p.Arg878His)
n.4184G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51937333G>ACA6988525ATP7Bc.*1614C>T (n.*1614C>T)
c.*2708C>T (n.*2708C>T)
c.3343C>T (p.Arg1115Cys)
c.3964C>T (p.Arg1322Cys)
c.3631C>T (p.Arg1211Cys)
c.3712C>T (p.Arg1238Cys)
n.1287C>T
c.3730C>T (p.Arg1244Cys)
n.4103C>T
n.830C>T
c.2899C>T (p.Arg967Cys)
c.2674C>T (p.Arg892Cys)
c.3769C>T (p.Arg1257Cys)
c.1742C>T
c.*1065C>T (n.*1065C>T)
n.4708C>T
n.3309C>T
c.3820C>T (p.Arg1274Cys)
c.3868C>T (p.Arg1290Cys)
c.3928C>T (p.Arg1310Cys)
c.3478C>T (p.Arg1160Cys)
c.1780C>T (p.Arg594Cys)
c.1597C>T (p.Arg533Cys)
c.3829C>T (p.Arg1277Cys)
c.3781C>T (p.Arg1261Cys)
c.3550C>T (p.Arg1184Cys)
c.3451C>T (p.Arg1151Cys)
c.2632C>T (p.Arg878Cys)
n.4183C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937333G>CCA388021042ATP7Bc.*1614C>G (n.*1614C>G)
c.*2708C>G (n.*2708C>G)
c.3343C>G (p.Arg1115Gly)
c.3964C>G (p.Arg1322Gly)
c.3631C>G (p.Arg1211Gly)
c.3712C>G (p.Arg1238Gly)
n.1287C>G
c.3730C>G (p.Arg1244Gly)
n.4103C>G
n.830C>G
c.2899C>G (p.Arg967Gly)
c.2674C>G (p.Arg892Gly)
c.3769C>G (p.Arg1257Gly)
c.1742C>G
c.*1065C>G (n.*1065C>G)
n.4708C>G
n.3309C>G
c.3820C>G (p.Arg1274Gly)
c.3868C>G (p.Arg1290Gly)
c.3928C>G (p.Arg1310Gly)
c.3478C>G (p.Arg1160Gly)
c.1780C>G (p.Arg594Gly)
c.1597C>G (p.Arg533Gly)
c.3829C>G (p.Arg1277Gly)
c.3781C>G (p.Arg1261Gly)
c.3550C>G (p.Arg1184Gly)
c.3451C>G (p.Arg1151Gly)
c.2632C>G (p.Arg878Gly)
n.4183C>G
13g.51937333G=CA2091553434ATP7Bc.*1614C= (n.*1614C=)
c.*2708C= (n.*2708C=)
c.3343C= (p.Arg1115=)
c.3964C= (p.Arg1322=)
c.3631C= (p.Arg1211=)
c.3712C= (p.Arg1238=)
n.1287C=
c.3730C= (p.Arg1244=)
n.4103C=
n.830C=
c.2899C= (p.Arg967=)
c.2674C= (p.Arg892=)
c.3769C= (p.Arg1257=)
c.1742C=
c.*1065C= (n.*1065C=)
n.4708C=
n.3309C=
c.3820C= (p.Arg1274=)
c.3868C= (p.Arg1290=)
c.3928C= (p.Arg1310=)
c.3478C= (p.Arg1160=)
c.1780C= (p.Arg594=)
c.1597C= (p.Arg533=)
c.3829C= (p.Arg1277=)
c.3781C= (p.Arg1261=)
c.3550C= (p.Arg1184=)
c.3451C= (p.Arg1151=)
c.2632C= (p.Arg878=)
n.4183C=
13g.51937333G>TCA388021044ATP7Bc.*1614C>A (n.*1614C>A)
c.*2708C>A (n.*2708C>A)
c.3343C>A (p.Arg1115Ser)
c.3964C>A (p.Arg1322Ser)
c.3631C>A (p.Arg1211Ser)
c.3712C>A (p.Arg1238Ser)
n.1287C>A
c.3730C>A (p.Arg1244Ser)
n.4103C>A
n.830C>A
c.2899C>A (p.Arg967Ser)
c.2674C>A (p.Arg892Ser)
c.3769C>A (p.Arg1257Ser)
c.1742C>A
c.*1065C>A (n.*1065C>A)
n.4708C>A
n.3309C>A
c.3820C>A (p.Arg1274Ser)
c.3868C>A (p.Arg1290Ser)
c.3928C>A (p.Arg1310Ser)
c.3478C>A (p.Arg1160Ser)
c.1780C>A (p.Arg594Ser)
c.1597C>A (p.Arg533Ser)
c.3829C>A (p.Arg1277Ser)
c.3781C>A (p.Arg1261Ser)
c.3550C>A (p.Arg1184Ser)
c.3451C>A (p.Arg1151Ser)
c.2632C>A (p.Arg878Ser)
n.4183C>A
13g.51937333_51937334dupCA2573149691ATP7Bc.*1613_*1614dup (n.*1613_*1614dup)
c.*2707_*2708dup (n.*2707_*2708dup)
c.3342_3343dup (p.Arg1115HisfsTer9)
c.3963_3964dup (p.Arg1322HisfsTer9)
c.3630_3631dup (p.Arg1211HisfsTer9)
c.3711_3712dup (p.Arg1238HisfsTer9)
n.1286_1287dup
c.3729_3730dup (p.Arg1244HisfsTer9)
n.4102_4103dup
n.829_830dup
c.2898_2899dup (p.Arg967HisfsTer9)
c.2673_2674dup (p.Arg892HisfsTer9)
c.3768_3769dup (p.Arg1257HisfsTer9)
c.1741_1742dup
c.*1064_*1065dup (n.*1064_*1065dup)
n.4707_4708dup
n.3308_3309dup
c.3819_3820dup (p.Arg1274HisfsTer9)
c.3867_3868dup (p.Arg1290HisfsTer9)
c.3927_3928dup (p.Arg1310HisfsTer9)
c.3477_3478dup (p.Arg1160HisfsTer9)
c.1779_1780dup (p.Arg594HisfsTer9)
c.1596_1597dup (p.Arg533HisfsTer9)
c.3828_3829dup (p.Arg1277HisfsTer9)
c.3780_3781dup (p.Arg1261HisfsTer9)
c.3549_3550dup (p.Arg1184HisfsTer9)
c.3450_3451dup (p.Arg1151HisfsTer9)
c.2631_2632dup (p.Arg878HisfsTer9)
n.4182_4183dup
 ClinVar dbSNP
13g.51937334T>ACA483893498ATP7Bc.*1613A>T (n.*1613A>T)
c.*2707A>T (n.*2707A>T)
c.3342A>T (p.Ile1114=)
c.3963A>T (p.Ile1321=)
c.3630A>T (p.Ile1210=)
c.3711A>T (p.Ile1237=)
n.1286A>T
c.3729A>T (p.Ile1243=)
n.4102A>T
n.829A>T
c.2898A>T (p.Ile966=)
c.2673A>T (p.Ile891=)
c.3768A>T (p.Ile1256=)
c.1741A>T
c.*1064A>T (n.*1064A>T)
n.4707A>T
n.3308A>T
c.3819A>T (p.Ile1273=)
c.3867A>T (p.Ile1289=)
c.3927A>T (p.Ile1309=)
c.3477A>T (p.Ile1159=)
c.1779A>T (p.Ile593=)
c.1596A>T (p.Ile532=)
c.3828A>T (p.Ile1276=)
c.3780A>T (p.Ile1260=)
c.3549A>T (p.Ile1183=)
c.3450A>T (p.Ile1150=)
c.2631A>T (p.Ile877=)
n.4182A>T
13g.51937334T>CCA388021047ATP7Bc.*1613A>G (n.*1613A>G)
c.*2707A>G (n.*2707A>G)
c.3342A>G (p.Ile1114Met)
c.3963A>G (p.Ile1321Met)
c.3630A>G (p.Ile1210Met)
c.3711A>G (p.Ile1237Met)
n.1286A>G
c.3729A>G (p.Ile1243Met)
n.4102A>G
n.829A>G
c.2898A>G (p.Ile966Met)
c.2673A>G (p.Ile891Met)
c.3768A>G (p.Ile1256Met)
c.1741A>G
c.*1064A>G (n.*1064A>G)
n.4707A>G
n.3308A>G
c.3819A>G (p.Ile1273Met)
c.3867A>G (p.Ile1289Met)
c.3927A>G (p.Ile1309Met)
c.3477A>G (p.Ile1159Met)
c.1779A>G (p.Ile593Met)
c.1596A>G (p.Ile532Met)
c.3828A>G (p.Ile1276Met)
c.3780A>G (p.Ile1260Met)
c.3549A>G (p.Ile1183Met)
c.3450A>G (p.Ile1150Met)
c.2631A>G (p.Ile877Met)
n.4182A>G
 gnomAD v4
13g.51937334T>GCA483893499ATP7Bc.*1613A>C (n.*1613A>C)
c.*2707A>C (n.*2707A>C)
c.3342A>C (p.Ile1114=)
c.3963A>C (p.Ile1321=)
c.3630A>C (p.Ile1210=)
c.3711A>C (p.Ile1237=)
n.1286A>C
c.3729A>C (p.Ile1243=)
n.4102A>C
n.829A>C
c.2898A>C (p.Ile966=)
c.2673A>C (p.Ile891=)
c.3768A>C (p.Ile1256=)
c.1741A>C
c.*1064A>C (n.*1064A>C)
n.4707A>C
n.3308A>C
c.3819A>C (p.Ile1273=)
c.3867A>C (p.Ile1289=)
c.3927A>C (p.Ile1309=)
c.3477A>C (p.Ile1159=)
c.1779A>C (p.Ile593=)
c.1596A>C (p.Ile532=)
c.3828A>C (p.Ile1276=)
c.3780A>C (p.Ile1260=)
c.3549A>C (p.Ile1183=)
c.3450A>C (p.Ile1150=)
c.2631A>C (p.Ile877=)
n.4182A>C
13g.51937335A>CCA388021049ATP7Bc.*1612T>G (n.*1612T>G)
c.*2706T>G (n.*2706T>G)
c.3341T>G (p.Ile1114Arg)
c.3962T>G (p.Ile1321Arg)
c.3629T>G (p.Ile1210Arg)
c.3710T>G (p.Ile1237Arg)
n.1285T>G
c.3728T>G (p.Ile1243Arg)
n.4101T>G
n.828T>G
c.2897T>G (p.Ile966Arg)
c.2672T>G (p.Ile891Arg)
c.3767T>G (p.Ile1256Arg)
c.1740T>G
c.*1063T>G (n.*1063T>G)
n.4706T>G
n.3307T>G
c.3818T>G (p.Ile1273Arg)
c.3866T>G (p.Ile1289Arg)
c.3926T>G (p.Ile1309Arg)
c.3476T>G (p.Ile1159Arg)
c.1778T>G (p.Ile593Arg)
c.1595T>G (p.Ile532Arg)
c.3827T>G (p.Ile1276Arg)
c.3779T>G (p.Ile1260Arg)
c.3548T>G (p.Ile1183Arg)
c.3449T>G (p.Ile1150Arg)
c.2630T>G (p.Ile877Arg)
n.4181T>G
13g.51937335A>GCA388021056ATP7Bc.*1612T>C (n.*1612T>C)
c.*2706T>C (n.*2706T>C)
c.3341T>C (p.Ile1114Thr)
c.3962T>C (p.Ile1321Thr)
c.3629T>C (p.Ile1210Thr)
c.3710T>C (p.Ile1237Thr)
n.1285T>C
c.3728T>C (p.Ile1243Thr)
n.4101T>C
n.828T>C
c.2897T>C (p.Ile966Thr)
c.2672T>C (p.Ile891Thr)
c.3767T>C (p.Ile1256Thr)
c.1740T>C
c.*1063T>C (n.*1063T>C)
n.4706T>C
n.3307T>C
c.3818T>C (p.Ile1273Thr)
c.3866T>C (p.Ile1289Thr)
c.3926T>C (p.Ile1309Thr)
c.3476T>C (p.Ile1159Thr)
c.1778T>C (p.Ile593Thr)
c.1595T>C (p.Ile532Thr)
c.3827T>C (p.Ile1276Thr)
c.3779T>C (p.Ile1260Thr)
c.3548T>C (p.Ile1183Thr)
c.3449T>C (p.Ile1150Thr)
c.2630T>C (p.Ile877Thr)
n.4181T>C
13g.51937335A>TCA388021053ATP7Bc.*1612T>A (n.*1612T>A)
c.*2706T>A (n.*2706T>A)
c.3341T>A (p.Ile1114Lys)
c.3962T>A (p.Ile1321Lys)
c.3629T>A (p.Ile1210Lys)
c.3710T>A (p.Ile1237Lys)
n.1285T>A
c.3728T>A (p.Ile1243Lys)
n.4101T>A
n.828T>A
c.2897T>A (p.Ile966Lys)
c.2672T>A (p.Ile891Lys)
c.3767T>A (p.Ile1256Lys)
c.1740T>A
c.*1063T>A (n.*1063T>A)
n.4706T>A
n.3307T>A
c.3818T>A (p.Ile1273Lys)
c.3866T>A (p.Ile1289Lys)
c.3926T>A (p.Ile1309Lys)
c.3476T>A (p.Ile1159Lys)
c.1778T>A (p.Ile593Lys)
c.1595T>A (p.Ile532Lys)
c.3827T>A (p.Ile1276Lys)
c.3779T>A (p.Ile1260Lys)
c.3548T>A (p.Ile1183Lys)
c.3449T>A (p.Ile1150Lys)
c.2630T>A (p.Ile877Lys)
n.4181T>A
13g.51937336T>ACA388021057ATP7Bc.*1611A>T (n.*1611A>T)
c.*2705A>T (n.*2705A>T)
c.3340A>T (p.Ile1114Leu)
c.3961A>T (p.Ile1321Leu)
c.3628A>T (p.Ile1210Leu)
c.3709A>T (p.Ile1237Leu)
n.1284A>T
c.3727A>T (p.Ile1243Leu)
n.4100A>T
n.827A>T
c.2896A>T (p.Ile966Leu)
c.2671A>T (p.Ile891Leu)
c.3766A>T (p.Ile1256Leu)
c.1739A>T
c.*1062A>T (n.*1062A>T)
n.4705A>T
n.3306A>T
c.3817A>T (p.Ile1273Leu)
c.3865A>T (p.Ile1289Leu)
c.3925A>T (p.Ile1309Leu)
c.3475A>T (p.Ile1159Leu)
c.1777A>T (p.Ile593Leu)
c.1594A>T (p.Ile532Leu)
c.3826A>T (p.Ile1276Leu)
c.3778A>T (p.Ile1260Leu)
c.3547A>T (p.Ile1183Leu)
c.3448A>T (p.Ile1150Leu)
c.2629A>T (p.Ile877Leu)
n.4180A>T
 ClinVar gnomAD v4
13g.51937336T>CCA388021059ATP7Bc.*1611A>G (n.*1611A>G)
c.*2705A>G (n.*2705A>G)
c.3340A>G (p.Ile1114Val)
c.3961A>G (p.Ile1321Val)
c.3628A>G (p.Ile1210Val)
c.3709A>G (p.Ile1237Val)
n.1284A>G
c.3727A>G (p.Ile1243Val)
n.4100A>G
n.827A>G
c.2896A>G (p.Ile966Val)
c.2671A>G (p.Ile891Val)
c.3766A>G (p.Ile1256Val)
c.1739A>G
c.*1062A>G (n.*1062A>G)
n.4705A>G
n.3306A>G
c.3817A>G (p.Ile1273Val)
c.3865A>G (p.Ile1289Val)
c.3925A>G (p.Ile1309Val)
c.3475A>G (p.Ile1159Val)
c.1777A>G (p.Ile593Val)
c.1594A>G (p.Ile532Val)
c.3826A>G (p.Ile1276Val)
c.3778A>G (p.Ile1260Val)
c.3547A>G (p.Ile1183Val)
c.3448A>G (p.Ile1150Val)
c.2629A>G (p.Ile877Val)
n.4180A>G
 dbSNP gnomAD v3 gnomAD v4
13g.51937336T>GCA388021062ATP7Bc.*1611A>C (n.*1611A>C)
c.*2705A>C (n.*2705A>C)
c.3340A>C (p.Ile1114Leu)
c.3961A>C (p.Ile1321Leu)
c.3628A>C (p.Ile1210Leu)
c.3709A>C (p.Ile1237Leu)
n.1284A>C
c.3727A>C (p.Ile1243Leu)
n.4100A>C
n.827A>C
c.2896A>C (p.Ile966Leu)
c.2671A>C (p.Ile891Leu)
c.3766A>C (p.Ile1256Leu)
c.1739A>C
c.*1062A>C (n.*1062A>C)
n.4705A>C
n.3306A>C
c.3817A>C (p.Ile1273Leu)
c.3865A>C (p.Ile1289Leu)
c.3925A>C (p.Ile1309Leu)
c.3475A>C (p.Ile1159Leu)
c.1777A>C (p.Ile593Leu)
c.1594A>C (p.Ile532Leu)
c.3826A>C (p.Ile1276Leu)
c.3778A>C (p.Ile1260Leu)
c.3547A>C (p.Ile1183Leu)
c.3448A>C (p.Ile1150Leu)
c.2629A>C (p.Ile877Leu)
n.4180A>C
13g.51937336T=CA2091553439ATP7Bc.*1611A= (n.*1611A=)
c.*2705A= (n.*2705A=)
c.3340A= (p.Ile1114=)
c.3961A= (p.Ile1321=)
c.3628A= (p.Ile1210=)
c.3709A= (p.Ile1237=)
n.1284A=
c.3727A= (p.Ile1243=)
n.4100A=
n.827A=
c.2896A= (p.Ile966=)
c.2671A= (p.Ile891=)
c.3766A= (p.Ile1256=)
c.1739A=
c.*1062A= (n.*1062A=)
n.4705A=
n.3306A=
c.3817A= (p.Ile1273=)
c.3865A= (p.Ile1289=)
c.3925A= (p.Ile1309=)
c.3475A= (p.Ile1159=)
c.1777A= (p.Ile593=)
c.1594A= (p.Ile532=)
c.3826A= (p.Ile1276=)
c.3778A= (p.Ile1260=)
c.3547A= (p.Ile1183=)
c.3448A= (p.Ile1150=)
c.2629A= (p.Ile877=)
n.4180A=
13g.51937337C>ACA388021067ATP7Bc.*1610G>T (n.*1610G>T)
c.*2704G>T (n.*2704G>T)
c.3339G>T (p.Arg1113Ser)
c.3960G>T (p.Arg1320Ser)
c.3627G>T (p.Arg1209Ser)
c.3708G>T (p.Arg1236Ser)
n.1283G>T
c.3726G>T (p.Arg1242Ser)
n.4099G>T
n.826G>T
c.2895G>T (p.Arg965Ser)
c.2670G>T (p.Arg890Ser)
c.3765G>T (p.Arg1255Ser)
c.1738G>T
c.*1061G>T (n.*1061G>T)
n.4704G>T
n.3305G>T
c.3816G>T (p.Arg1272Ser)
c.3864G>T (p.Arg1288Ser)
c.3924G>T (p.Arg1308Ser)
c.3474G>T (p.Arg1158Ser)
c.1776G>T (p.Arg592Ser)
c.1593G>T (p.Arg531Ser)
c.3825G>T (p.Arg1275Ser)
c.3777G>T (p.Arg1259Ser)
c.3546G>T (p.Arg1182Ser)
c.3447G>T (p.Arg1149Ser)
c.2628G>T (p.Arg876Ser)
n.4179G>T
13g.51937337C=CA2091553443ATP7Bc.*1610G= (n.*1610G=)
c.*2704G= (n.*2704G=)
c.3339G= (p.Arg1113=)
c.3960G= (p.Arg1320=)
c.3627G= (p.Arg1209=)
c.3708G= (p.Arg1236=)
n.1283G=
c.3726G= (p.Arg1242=)
n.4099G=
n.826G=
c.2895G= (p.Arg965=)
c.2670G= (p.Arg890=)
c.3765G= (p.Arg1255=)
c.1738G=
c.*1061G= (n.*1061G=)
n.4704G=
n.3305G=
c.3816G= (p.Arg1272=)
c.3864G= (p.Arg1288=)
c.3924G= (p.Arg1308=)
c.3474G= (p.Arg1158=)
c.1776G= (p.Arg592=)
c.1593G= (p.Arg531=)
c.3825G= (p.Arg1275=)
c.3777G= (p.Arg1259=)
c.3546G= (p.Arg1182=)
c.3447G= (p.Arg1149=)
c.2628G= (p.Arg876=)
n.4179G=
13g.51937337C>GCA6988526ATP7Bc.*1610G>C (n.*1610G>C)
c.*2704G>C (n.*2704G>C)
c.3339G>C (p.Arg1113Ser)
c.3960G>C (p.Arg1320Ser)
c.3627G>C (p.Arg1209Ser)
c.3708G>C (p.Arg1236Ser)
n.1283G>C
c.3726G>C (p.Arg1242Ser)
n.4099G>C
n.826G>C
c.2895G>C (p.Arg965Ser)
c.2670G>C (p.Arg890Ser)
c.3765G>C (p.Arg1255Ser)
c.1738G>C
c.*1061G>C (n.*1061G>C)
n.4704G>C
n.3305G>C
c.3816G>C (p.Arg1272Ser)
c.3864G>C (p.Arg1288Ser)
c.3924G>C (p.Arg1308Ser)
c.3474G>C (p.Arg1158Ser)
c.1776G>C (p.Arg592Ser)
c.1593G>C (p.Arg531Ser)
c.3825G>C (p.Arg1275Ser)
c.3777G>C (p.Arg1259Ser)
c.3546G>C (p.Arg1182Ser)
c.3447G>C (p.Arg1149Ser)
c.2628G>C (p.Arg876Ser)
n.4179G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51937337C>TCA483893500ATP7Bc.*1610G>A (n.*1610G>A)
c.*2704G>A (n.*2704G>A)
c.3339G>A (p.Arg1113=)
c.3960G>A (p.Arg1320=)
c.3627G>A (p.Arg1209=)
c.3708G>A (p.Arg1236=)
n.1283G>A
c.3726G>A (p.Arg1242=)
n.4099G>A
n.826G>A
c.2895G>A (p.Arg965=)
c.2670G>A (p.Arg890=)
c.3765G>A (p.Arg1255=)
c.1738G>A
c.*1061G>A (n.*1061G>A)
n.4704G>A
n.3305G>A
c.3816G>A (p.Arg1272=)
c.3864G>A (p.Arg1288=)
c.3924G>A (p.Arg1308=)
c.3474G>A (p.Arg1158=)
c.1776G>A (p.Arg592=)
c.1593G>A (p.Arg531=)
c.3825G>A (p.Arg1275=)
c.3777G>A (p.Arg1259=)
c.3546G>A (p.Arg1182=)
c.3447G>A (p.Arg1149=)
c.2628G>A (p.Arg876=)
n.4179G>A
13g.51937338C>ACA388021080ATP7Bc.*1609G>T (n.*1609G>T)
c.*2703G>T (n.*2703G>T)
c.3338G>T (p.Arg1113Met)
c.3959G>T (p.Arg1320Met)
c.3626G>T (p.Arg1209Met)
c.3707G>T (p.Arg1236Met)
n.1282G>T
c.3725G>T (p.Arg1242Met)
n.4098G>T
n.825G>T
c.2894G>T (p.Arg965Met)
c.2669G>T (p.Arg890Met)
c.3764G>T (p.Arg1255Met)
c.1737G>T
c.*1060G>T (n.*1060G>T)
n.4703G>T
n.3304G>T
c.3815G>T (p.Arg1272Met)
c.3863G>T (p.Arg1288Met)
c.3923G>T (p.Arg1308Met)
c.3473G>T (p.Arg1158Met)
c.1775G>T (p.Arg592Met)
c.1592G>T (p.Arg531Met)
c.3824G>T (p.Arg1275Met)
c.3776G>T (p.Arg1259Met)
c.3545G>T (p.Arg1182Met)
c.3446G>T (p.Arg1149Met)
c.2627G>T (p.Arg876Met)
n.4178G>T
13g.51937338C=CA2091553452ATP7Bc.*1609G= (n.*1609G=)
c.*2703G= (n.*2703G=)
c.3338G= (p.Arg1113=)
c.3959G= (p.Arg1320=)
c.3626G= (p.Arg1209=)
c.3707G= (p.Arg1236=)
n.1282G=
c.3725G= (p.Arg1242=)
n.4098G=
n.825G=
c.2894G= (p.Arg965=)
c.2669G= (p.Arg890=)
c.3764G= (p.Arg1255=)
c.1737G=
c.*1060G= (n.*1060G=)
n.4703G=
n.3304G=
c.3815G= (p.Arg1272=)
c.3863G= (p.Arg1288=)
c.3923G= (p.Arg1308=)
c.3473G= (p.Arg1158=)
c.1775G= (p.Arg592=)
c.1592G= (p.Arg531=)
c.3824G= (p.Arg1275=)
c.3776G= (p.Arg1259=)
c.3545G= (p.Arg1182=)
c.3446G= (p.Arg1149=)
c.2627G= (p.Arg876=)
n.4178G=
13g.51937338C>GCA6988527ATP7Bc.*1609G>C (n.*1609G>C)
c.*2703G>C (n.*2703G>C)
c.3338G>C (p.Arg1113Thr)
c.3959G>C (p.Arg1320Thr)
c.3626G>C (p.Arg1209Thr)
c.3707G>C (p.Arg1236Thr)
n.1282G>C
c.3725G>C (p.Arg1242Thr)
n.4098G>C
n.825G>C
c.2894G>C (p.Arg965Thr)
c.2669G>C (p.Arg890Thr)
c.3764G>C (p.Arg1255Thr)
c.1737G>C
c.*1060G>C (n.*1060G>C)
n.4703G>C
n.3304G>C
c.3815G>C (p.Arg1272Thr)
c.3863G>C (p.Arg1288Thr)
c.3923G>C (p.Arg1308Thr)
c.3473G>C (p.Arg1158Thr)
c.1775G>C (p.Arg592Thr)
c.1592G>C (p.Arg531Thr)
c.3824G>C (p.Arg1275Thr)
c.3776G>C (p.Arg1259Thr)
c.3545G>C (p.Arg1182Thr)
c.3446G>C (p.Arg1149Thr)
c.2627G>C (p.Arg876Thr)
n.4178G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937338C>TCA6988528ATP7Bc.*1609G>A (n.*1609G>A)
c.*2703G>A (n.*2703G>A)
c.3338G>A (p.Arg1113Lys)
c.3959G>A (p.Arg1320Lys)
c.3626G>A (p.Arg1209Lys)
c.3707G>A (p.Arg1236Lys)
n.1282G>A
c.3725G>A (p.Arg1242Lys)
n.4098G>A
n.825G>A
c.2894G>A (p.Arg965Lys)
c.2669G>A (p.Arg890Lys)
c.3764G>A (p.Arg1255Lys)
c.1737G>A
c.*1060G>A (n.*1060G>A)
n.4703G>A
n.3304G>A
c.3815G>A (p.Arg1272Lys)
c.3863G>A (p.Arg1288Lys)
c.3923G>A (p.Arg1308Lys)
c.3473G>A (p.Arg1158Lys)
c.1775G>A (p.Arg592Lys)
c.1592G>A (p.Arg531Lys)
c.3824G>A (p.Arg1275Lys)
c.3776G>A (p.Arg1259Lys)
c.3545G>A (p.Arg1182Lys)
c.3446G>A (p.Arg1149Lys)
c.2627G>A (p.Arg876Lys)
n.4178G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937339T>ACA388021084ATP7Bc.*1608A>T (n.*1608A>T)
c.*2702A>T (n.*2702A>T)
c.3337A>T (p.Arg1113Trp)
c.3958A>T (p.Arg1320Trp)
c.3625A>T (p.Arg1209Trp)
c.3706A>T (p.Arg1236Trp)
n.1281A>T
c.3724A>T (p.Arg1242Trp)
n.4097A>T
n.824A>T
c.2893A>T (p.Arg965Trp)
c.2668A>T (p.Arg890Trp)
c.3763A>T (p.Arg1255Trp)
c.1736A>T
c.*1059A>T (n.*1059A>T)
n.4702A>T
n.3303A>T
c.3814A>T (p.Arg1272Trp)
c.3862A>T (p.Arg1288Trp)
c.3922A>T (p.Arg1308Trp)
c.3472A>T (p.Arg1158Trp)
c.1774A>T (p.Arg592Trp)
c.1591A>T (p.Arg531Trp)
c.3823A>T (p.Arg1275Trp)
c.3775A>T (p.Arg1259Trp)
c.3544A>T (p.Arg1182Trp)
c.3445A>T (p.Arg1149Trp)
c.2626A>T (p.Arg876Trp)
n.4177A>T
13g.51937339T>CCA388021086ATP7Bc.*1608A>G (n.*1608A>G)
c.*2702A>G (n.*2702A>G)
c.3337A>G (p.Arg1113Gly)
c.3958A>G (p.Arg1320Gly)
c.3625A>G (p.Arg1209Gly)
c.3706A>G (p.Arg1236Gly)
n.1281A>G
c.3724A>G (p.Arg1242Gly)
n.4097A>G
n.824A>G
c.2893A>G (p.Arg965Gly)
c.2668A>G (p.Arg890Gly)
c.3763A>G (p.Arg1255Gly)
c.1736A>G
c.*1059A>G (n.*1059A>G)
n.4702A>G
n.3303A>G
c.3814A>G (p.Arg1272Gly)
c.3862A>G (p.Arg1288Gly)
c.3922A>G (p.Arg1308Gly)
c.3472A>G (p.Arg1158Gly)
c.1774A>G (p.Arg592Gly)
c.1591A>G (p.Arg531Gly)
c.3823A>G (p.Arg1275Gly)
c.3775A>G (p.Arg1259Gly)
c.3544A>G (p.Arg1182Gly)
c.3445A>G (p.Arg1149Gly)
c.2626A>G (p.Arg876Gly)
n.4177A>G
 ClinVar dbSNP gnomAD v4
13g.51937339T>GCA483893501ATP7Bc.*1608A>C (n.*1608A>C)
c.*2702A>C (n.*2702A>C)
c.3337A>C (p.Arg1113=)
c.3958A>C (p.Arg1320=)
c.3625A>C (p.Arg1209=)
c.3706A>C (p.Arg1236=)
n.1281A>C
c.3724A>C (p.Arg1242=)
n.4097A>C
n.824A>C
c.2893A>C (p.Arg965=)
c.2668A>C (p.Arg890=)
c.3763A>C (p.Arg1255=)
c.1736A>C
c.*1059A>C (n.*1059A>C)
n.4702A>C
n.3303A>C
c.3814A>C (p.Arg1272=)
c.3862A>C (p.Arg1288=)
c.3922A>C (p.Arg1308=)
c.3472A>C (p.Arg1158=)
c.1774A>C (p.Arg592=)
c.1591A>C (p.Arg531=)
c.3823A>C (p.Arg1275=)
c.3775A>C (p.Arg1259=)
c.3544A>C (p.Arg1182=)
c.3445A>C (p.Arg1149=)
c.2626A>C (p.Arg876=)
n.4177A>C
13g.51937340T>ACA483893504ATP7Bc.*1607A>T (n.*1607A>T)
c.*2701A>T (n.*2701A>T)
c.3336A>T (p.Arg1112=)
c.3957A>T (p.Arg1319=)
c.3624A>T (p.Arg1208=)
c.3705A>T (p.Arg1235=)
n.1280A>T
c.3723A>T (p.Arg1241=)
n.4096A>T
n.823A>T
c.2892A>T (p.Arg964=)
c.2667A>T (p.Arg889=)
c.3762A>T (p.Arg1254=)
c.1735A>T
c.*1058A>T (n.*1058A>T)
n.4701A>T
n.3302A>T
c.3813A>T (p.Arg1271=)
c.3861A>T (p.Arg1287=)
c.3921A>T (p.Arg1307=)
c.3471A>T (p.Arg1157=)
c.1773A>T (p.Arg591=)
c.1590A>T (p.Arg530=)
c.3822A>T (p.Arg1274=)
c.3774A>T (p.Arg1258=)
c.3543A>T (p.Arg1181=)
c.3444A>T (p.Arg1148=)
c.2625A>T (p.Arg875=)
n.4176A>T
13g.51937340T>CCA483893502ATP7Bc.*1607A>G (n.*1607A>G)
c.*2701A>G (n.*2701A>G)
c.3336A>G (p.Arg1112=)
c.3957A>G (p.Arg1319=)
c.3624A>G (p.Arg1208=)
c.3705A>G (p.Arg1235=)
n.1280A>G
c.3723A>G (p.Arg1241=)
n.4096A>G
n.823A>G
c.2892A>G (p.Arg964=)
c.2667A>G (p.Arg889=)
c.3762A>G (p.Arg1254=)
c.1735A>G
c.*1058A>G (n.*1058A>G)
n.4701A>G
n.3302A>G
c.3813A>G (p.Arg1271=)
c.3861A>G (p.Arg1287=)
c.3921A>G (p.Arg1307=)
c.3471A>G (p.Arg1157=)
c.1773A>G (p.Arg591=)
c.1590A>G (p.Arg530=)
c.3822A>G (p.Arg1274=)
c.3774A>G (p.Arg1258=)
c.3543A>G (p.Arg1181=)
c.3444A>G (p.Arg1148=)
c.2625A>G (p.Arg875=)
n.4176A>G
13g.51937340T>GCA483893503ATP7Bc.*1607A>C (n.*1607A>C)
c.*2701A>C (n.*2701A>C)
c.3336A>C (p.Arg1112=)
c.3957A>C (p.Arg1319=)
c.3624A>C (p.Arg1208=)
c.3705A>C (p.Arg1235=)
n.1280A>C
c.3723A>C (p.Arg1241=)
n.4096A>C
n.823A>C
c.2892A>C (p.Arg964=)
c.2667A>C (p.Arg889=)
c.3762A>C (p.Arg1254=)
c.1735A>C
c.*1058A>C (n.*1058A>C)
n.4701A>C
n.3302A>C
c.3813A>C (p.Arg1271=)
c.3861A>C (p.Arg1287=)
c.3921A>C (p.Arg1307=)
c.3471A>C (p.Arg1157=)
c.1773A>C (p.Arg591=)
c.1590A>C (p.Arg530=)
c.3822A>C (p.Arg1274=)
c.3774A>C (p.Arg1258=)
c.3543A>C (p.Arg1181=)
c.3444A>C (p.Arg1148=)
c.2625A>C (p.Arg875=)
n.4176A>C
13g.51937341C>ACA388021088ATP7Bc.*1606G>T (n.*1606G>T)
c.*2700G>T (n.*2700G>T)
c.3335G>T (p.Arg1112Leu)
c.3956G>T (p.Arg1319Leu)
c.3623G>T (p.Arg1208Leu)
c.3704G>T (p.Arg1235Leu)
n.1279G>T
c.3722G>T (p.Arg1241Leu)
n.4095G>T
n.822G>T
c.2891G>T (p.Arg964Leu)
c.2666G>T (p.Arg889Leu)
c.3761G>T (p.Arg1254Leu)
c.1734G>T
c.*1057G>T (n.*1057G>T)
n.4700G>T
n.3301G>T
c.3812G>T (p.Arg1271Leu)
c.3860G>T (p.Arg1287Leu)
c.3920G>T (p.Arg1307Leu)
c.3470G>T (p.Arg1157Leu)
c.1772G>T (p.Arg591Leu)
c.1589G>T (p.Arg530Leu)
c.3821G>T (p.Arg1274Leu)
c.3773G>T (p.Arg1258Leu)
c.3542G>T (p.Arg1181Leu)
c.3443G>T (p.Arg1148Leu)
c.2624G>T (p.Arg875Leu)
n.4175G>T
13g.51937341C=CA2091553455ATP7Bc.*1606G= (n.*1606G=)
c.*2700G= (n.*2700G=)
c.3335G= (p.Arg1112=)
c.3956G= (p.Arg1319=)
c.3623G= (p.Arg1208=)
c.3704G= (p.Arg1235=)
n.1279G=
c.3722G= (p.Arg1241=)
n.4095G=
n.822G=
c.2891G= (p.Arg964=)
c.2666G= (p.Arg889=)
c.3761G= (p.Arg1254=)
c.1734G=
c.*1057G= (n.*1057G=)
n.4700G=
n.3301G=
c.3812G= (p.Arg1271=)
c.3860G= (p.Arg1287=)
c.3920G= (p.Arg1307=)
c.3470G= (p.Arg1157=)
c.1772G= (p.Arg591=)
c.1589G= (p.Arg530=)
c.3821G= (p.Arg1274=)
c.3773G= (p.Arg1258=)
c.3542G= (p.Arg1181=)
c.3443G= (p.Arg1148=)
c.2624G= (p.Arg875=)
n.4175G=
13g.51937341C>GCA388021089ATP7Bc.*1606G>C (n.*1606G>C)
c.*2700G>C (n.*2700G>C)
c.3335G>C (p.Arg1112Pro)
c.3956G>C (p.Arg1319Pro)
c.3623G>C (p.Arg1208Pro)
c.3704G>C (p.Arg1235Pro)
n.1279G>C
c.3722G>C (p.Arg1241Pro)
n.4095G>C
n.822G>C
c.2891G>C (p.Arg964Pro)
c.2666G>C (p.Arg889Pro)
c.3761G>C (p.Arg1254Pro)
c.1734G>C
c.*1057G>C (n.*1057G>C)
n.4700G>C
n.3301G>C
c.3812G>C (p.Arg1271Pro)
c.3860G>C (p.Arg1287Pro)
c.3920G>C (p.Arg1307Pro)
c.3470G>C (p.Arg1157Pro)
c.1772G>C (p.Arg591Pro)
c.1589G>C (p.Arg530Pro)
c.3821G>C (p.Arg1274Pro)
c.3773G>C (p.Arg1258Pro)
c.3542G>C (p.Arg1181Pro)
c.3443G>C (p.Arg1148Pro)
c.2624G>C (p.Arg875Pro)
n.4175G>C
13g.51937341C>TCA6988529ATP7Bc.*1606G>A (n.*1606G>A)
c.*2700G>A (n.*2700G>A)
c.3335G>A (p.Arg1112Gln)
c.3956G>A (p.Arg1319Gln)
c.3623G>A (p.Arg1208Gln)
c.3704G>A (p.Arg1235Gln)
n.1279G>A
c.3722G>A (p.Arg1241Gln)
n.4095G>A
n.822G>A
c.2891G>A (p.Arg964Gln)
c.2666G>A (p.Arg889Gln)
c.3761G>A (p.Arg1254Gln)
c.1734G>A
c.*1057G>A (n.*1057G>A)
n.4700G>A
n.3301G>A
c.3812G>A (p.Arg1271Gln)
c.3860G>A (p.Arg1287Gln)
c.3920G>A (p.Arg1307Gln)
c.3470G>A (p.Arg1157Gln)
c.1772G>A (p.Arg591Gln)
c.1589G>A (p.Arg530Gln)
c.3821G>A (p.Arg1274Gln)
c.3773G>A (p.Arg1258Gln)
c.3542G>A (p.Arg1181Gln)
c.3443G>A (p.Arg1148Gln)
c.2624G>A (p.Arg875Gln)
n.4175G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51937342G>ACA260148ATP7Bc.*1605C>T (n.*1605C>T)
c.*2699C>T (n.*2699C>T)
c.3334C>T (p.Arg1112Ter)
c.3955C>T (p.Arg1319Ter)
c.3622C>T (p.Arg1208Ter)
c.3703C>T (p.Arg1235Ter)
n.1278C>T
c.3721C>T (p.Arg1241Ter)
n.4094C>T
n.821C>T
c.2890C>T (p.Arg964Ter)
c.2665C>T (p.Arg889Ter)
c.3760C>T (p.Arg1254Ter)
c.1733C>T
c.*1056C>T (n.*1056C>T)
n.4699C>T
n.3300C>T
c.3811C>T (p.Arg1271Ter)
c.3859C>T (p.Arg1287Ter)
c.3919C>T (p.Arg1307Ter)
c.3469C>T (p.Arg1157Ter)
c.1771C>T (p.Arg591Ter)
c.1588C>T (p.Arg530Ter)
c.3820C>T (p.Arg1274Ter)
c.3772C>T (p.Arg1258Ter)
c.3541C>T (p.Arg1181Ter)
c.3442C>T (p.Arg1148Ter)
c.2623C>T (p.Arg875Ter)
n.4174C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51937342G>CCA388021090ATP7Bc.*1605C>G (n.*1605C>G)
c.*2699C>G (n.*2699C>G)
c.3334C>G (p.Arg1112Gly)
c.3955C>G (p.Arg1319Gly)
c.3622C>G (p.Arg1208Gly)
c.3703C>G (p.Arg1235Gly)
n.1278C>G
c.3721C>G (p.Arg1241Gly)
n.4094C>G
n.821C>G
c.2890C>G (p.Arg964Gly)
c.2665C>G (p.Arg889Gly)
c.3760C>G (p.Arg1254Gly)
c.1733C>G
c.*1056C>G (n.*1056C>G)
n.4699C>G
n.3300C>G
c.3811C>G (p.Arg1271Gly)
c.3859C>G (p.Arg1287Gly)
c.3919C>G (p.Arg1307Gly)
c.3469C>G (p.Arg1157Gly)
c.1771C>G (p.Arg591Gly)
c.1588C>G (p.Arg530Gly)
c.3820C>G (p.Arg1274Gly)
c.3772C>G (p.Arg1258Gly)
c.3541C>G (p.Arg1181Gly)
c.3442C>G (p.Arg1148Gly)
c.2623C>G (p.Arg875Gly)
n.4174C>G
 ClinVar
13g.51937342G=CA2091553456ATP7Bc.*1605C= (n.*1605C=)
c.*2699C= (n.*2699C=)
c.3334C= (p.Arg1112=)
c.3955C= (p.Arg1319=)
c.3622C= (p.Arg1208=)
c.3703C= (p.Arg1235=)
n.1278C=
c.3721C= (p.Arg1241=)
n.4094C=
n.821C=
c.2890C= (p.Arg964=)
c.2665C= (p.Arg889=)
c.3760C= (p.Arg1254=)
c.1733C=
c.*1056C= (n.*1056C=)
n.4699C=
n.3300C=
c.3811C= (p.Arg1271=)
c.3859C= (p.Arg1287=)
c.3919C= (p.Arg1307=)
c.3469C= (p.Arg1157=)
c.1771C= (p.Arg591=)
c.1588C= (p.Arg530=)
c.3820C= (p.Arg1274=)
c.3772C= (p.Arg1258=)
c.3541C= (p.Arg1181=)
c.3442C= (p.Arg1148=)
c.2623C= (p.Arg875=)
n.4174C=
13g.51937342G>TCA483893505ATP7Bc.*1605C>A (n.*1605C>A)
c.*2699C>A (n.*2699C>A)
c.3334C>A (p.Arg1112=)
c.3955C>A (p.Arg1319=)
c.3622C>A (p.Arg1208=)
c.3703C>A (p.Arg1235=)
n.1278C>A
c.3721C>A (p.Arg1241=)
n.4094C>A
n.821C>A
c.2890C>A (p.Arg964=)
c.2665C>A (p.Arg889=)
c.3760C>A (p.Arg1254=)
c.1733C>A
c.*1056C>A (n.*1056C>A)
n.4699C>A
n.3300C>A
c.3811C>A (p.Arg1271=)
c.3859C>A (p.Arg1287=)
c.3919C>A (p.Arg1307=)
c.3469C>A (p.Arg1157=)
c.1771C>A (p.Arg591=)
c.1588C>A (p.Arg530=)
c.3820C>A (p.Arg1274=)
c.3772C>A (p.Arg1258=)
c.3541C>A (p.Arg1181=)
c.3442C>A (p.Arg1148=)
c.2623C>A (p.Arg875=)
n.4174C>A
 ClinVar
13g.51937343G>ACA483893506ATP7Bc.*1604C>T (n.*1604C>T)
c.*2698C>T (n.*2698C>T)
c.3333C>T (p.Val1111=)
c.3954C>T (p.Val1318=)
c.3621C>T (p.Val1207=)
c.3702C>T (p.Val1234=)
n.1277C>T
c.3720C>T (p.Val1240=)
n.4093C>T
n.820C>T
c.2889C>T (p.Val963=)
c.2664C>T (p.Val888=)
c.3759C>T (p.Val1253=)
c.1732C>T
c.*1055C>T (n.*1055C>T)
n.4698C>T
n.3299C>T
c.3810C>T (p.Val1270=)
c.3858C>T (p.Val1286=)
c.3918C>T (p.Val1306=)
c.3468C>T (p.Val1156=)
c.1770C>T (p.Val590=)
c.1587C>T (p.Val529=)
c.3819C>T (p.Val1273=)
c.3771C>T (p.Val1257=)
c.3540C>T (p.Val1180=)
c.3441C>T (p.Val1147=)
c.2622C>T (p.Val874=)
n.4173C>T
 ClinVar
13g.51937343G>CCA483893507ATP7Bc.*1604C>G (n.*1604C>G)
c.*2698C>G (n.*2698C>G)
c.3333C>G (p.Val1111=)
c.3954C>G (p.Val1318=)
c.3621C>G (p.Val1207=)
c.3702C>G (p.Val1234=)
n.1277C>G
c.3720C>G (p.Val1240=)
n.4093C>G
n.820C>G
c.2889C>G (p.Val963=)
c.2664C>G (p.Val888=)
c.3759C>G (p.Val1253=)
c.1732C>G
c.*1055C>G (n.*1055C>G)
n.4698C>G
n.3299C>G
c.3810C>G (p.Val1270=)
c.3858C>G (p.Val1286=)
c.3918C>G (p.Val1306=)
c.3468C>G (p.Val1156=)
c.1770C>G (p.Val590=)
c.1587C>G (p.Val529=)
c.3819C>G (p.Val1273=)
c.3771C>G (p.Val1257=)
c.3540C>G (p.Val1180=)
c.3441C>G (p.Val1147=)
c.2622C>G (p.Val874=)
n.4173C>G
13g.51937343G>TCA483893508ATP7Bc.*1604C>A (n.*1604C>A)
c.*2698C>A (n.*2698C>A)
c.3333C>A (p.Val1111=)
c.3954C>A (p.Val1318=)
c.3621C>A (p.Val1207=)
c.3702C>A (p.Val1234=)
n.1277C>A
c.3720C>A (p.Val1240=)
n.4093C>A
n.820C>A
c.2889C>A (p.Val963=)
c.2664C>A (p.Val888=)
c.3759C>A (p.Val1253=)
c.1732C>A
c.*1055C>A (n.*1055C>A)
n.4698C>A
n.3299C>A
c.3810C>A (p.Val1270=)
c.3858C>A (p.Val1286=)
c.3918C>A (p.Val1306=)
c.3468C>A (p.Val1156=)
c.1770C>A (p.Val590=)
c.1587C>A (p.Val529=)
c.3819C>A (p.Val1273=)
c.3771C>A (p.Val1257=)
c.3540C>A (p.Val1180=)
c.3441C>A (p.Val1147=)
c.2622C>A (p.Val874=)
n.4173C>A
 ClinVar dbSNP
13g.51937344A>CCA388021091ATP7Bc.*1603T>G (n.*1603T>G)
c.*2697T>G (n.*2697T>G)
c.3332T>G (p.Val1111Gly)
c.3953T>G (p.Val1318Gly)
c.3620T>G (p.Val1207Gly)
c.3701T>G (p.Val1234Gly)
n.1276T>G
c.3719T>G (p.Val1240Gly)
n.4092T>G
n.819T>G
c.2888T>G (p.Val963Gly)
c.2663T>G (p.Val888Gly)
c.3758T>G (p.Val1253Gly)
c.1731T>G
c.*1054T>G (n.*1054T>G)
n.4697T>G
n.3298T>G
c.3809T>G (p.Val1270Gly)
c.3857T>G (p.Val1286Gly)
c.3917T>G (p.Val1306Gly)
c.3467T>G (p.Val1156Gly)
c.1769T>G (p.Val590Gly)
c.1586T>G (p.Val529Gly)
c.3818T>G (p.Val1273Gly)
c.3770T>G (p.Val1257Gly)
c.3539T>G (p.Val1180Gly)
c.3440T>G (p.Val1147Gly)
c.2621T>G (p.Val874Gly)
n.4172T>G
13g.51937344A>GCA388021093ATP7Bc.*1603T>C (n.*1603T>C)
c.*2697T>C (n.*2697T>C)
c.3332T>C (p.Val1111Ala)
c.3953T>C (p.Val1318Ala)
c.3620T>C (p.Val1207Ala)
c.3701T>C (p.Val1234Ala)
n.1276T>C
c.3719T>C (p.Val1240Ala)
n.4092T>C
n.819T>C
c.2888T>C (p.Val963Ala)
c.2663T>C (p.Val888Ala)
c.3758T>C (p.Val1253Ala)
c.1731T>C
c.*1054T>C (n.*1054T>C)
n.4697T>C
n.3298T>C
c.3809T>C (p.Val1270Ala)
c.3857T>C (p.Val1286Ala)
c.3917T>C (p.Val1306Ala)
c.3467T>C (p.Val1156Ala)
c.1769T>C (p.Val590Ala)
c.1586T>C (p.Val529Ala)
c.3818T>C (p.Val1273Ala)
c.3770T>C (p.Val1257Ala)
c.3539T>C (p.Val1180Ala)
c.3440T>C (p.Val1147Ala)
c.2621T>C (p.Val874Ala)
n.4172T>C
 gnomAD v4
13g.51937344A>TCA388021095ATP7Bc.*1603T>A (n.*1603T>A)
c.*2697T>A (n.*2697T>A)
c.3332T>A (p.Val1111Asp)
c.3953T>A (p.Val1318Asp)
c.3620T>A (p.Val1207Asp)
c.3701T>A (p.Val1234Asp)
n.1276T>A
c.3719T>A (p.Val1240Asp)
n.4092T>A
n.819T>A
c.2888T>A (p.Val963Asp)
c.2663T>A (p.Val888Asp)
c.3758T>A (p.Val1253Asp)
c.1731T>A
c.*1054T>A (n.*1054T>A)
n.4697T>A
n.3298T>A
c.3809T>A (p.Val1270Asp)
c.3857T>A (p.Val1286Asp)
c.3917T>A (p.Val1306Asp)
c.3467T>A (p.Val1156Asp)
c.1769T>A (p.Val590Asp)
c.1586T>A (p.Val529Asp)
c.3818T>A (p.Val1273Asp)
c.3770T>A (p.Val1257Asp)
c.3539T>A (p.Val1180Asp)
c.3440T>A (p.Val1147Asp)
c.2621T>A (p.Val874Asp)
n.4172T>A
13g.51937345delCA2575420456ATP7Bc.*1602del (n.*1602del)
c.*2696del (n.*2696del)
c.3331del (p.Val1111SerfsTer12)
c.3952del (p.Val1318SerfsTer12)
c.3619del (p.Val1207SerfsTer12)
c.3700del (p.Val1234SerfsTer12)
n.1275del
c.3718del (p.Val1240SerfsTer12)
n.4091del
n.818del
c.2887del (p.Val963SerfsTer12)
c.2662del (p.Val888SerfsTer12)
c.3757del (p.Val1253SerfsTer12)
c.1730del
c.*1053del (n.*1053del)
n.4696del
n.3297del
c.3808del (p.Val1270SerfsTer12)
c.3856del (p.Val1286SerfsTer12)
c.3916del (p.Val1306SerfsTer12)
c.3466del (p.Val1156SerfsTer12)
c.1768del (p.Val590SerfsTer12)
c.1585del (p.Val529SerfsTer12)
c.3817del (p.Val1273SerfsTer12)
c.3769del (p.Val1257SerfsTer12)
c.3538del (p.Val1180SerfsTer12)
c.3439del (p.Val1147SerfsTer12)
c.2620del (p.Val874SerfsTer12)
n.4171del
13g.51937345C>ACA388021097ATP7Bc.*1602G>T (n.*1602G>T)
c.*2696G>T (n.*2696G>T)
c.3331G>T (p.Val1111Phe)
c.3952G>T (p.Val1318Phe)
c.3619G>T (p.Val1207Phe)
c.3700G>T (p.Val1234Phe)
n.1275G>T
c.3718G>T (p.Val1240Phe)
n.4091G>T
n.818G>T
c.2887G>T (p.Val963Phe)
c.2662G>T (p.Val888Phe)
c.3757G>T (p.Val1253Phe)
c.1730G>T
c.*1053G>T (n.*1053G>T)
n.4696G>T
n.3297G>T
c.3808G>T (p.Val1270Phe)
c.3856G>T (p.Val1286Phe)
c.3916G>T (p.Val1306Phe)
c.3466G>T (p.Val1156Phe)
c.1768G>T (p.Val590Phe)
c.1585G>T (p.Val529Phe)
c.3817G>T (p.Val1273Phe)
c.3769G>T (p.Val1257Phe)
c.3538G>T (p.Val1180Phe)
c.3439G>T (p.Val1147Phe)
c.2620G>T (p.Val874Phe)
n.4171G>T
13g.51937345C=CA2091553459ATP7Bc.*1602G= (n.*1602G=)
c.*2696G= (n.*2696G=)
c.3331G= (p.Val1111=)
c.3952G= (p.Val1318=)
c.3619G= (p.Val1207=)
c.3700G= (p.Val1234=)
n.1275G=
c.3718G= (p.Val1240=)
n.4091G=
n.818G=
c.2887G= (p.Val963=)
c.2662G= (p.Val888=)
c.3757G= (p.Val1253=)
c.1730G=
c.*1053G= (n.*1053G=)
n.4696G=
n.3297G=
c.3808G= (p.Val1270=)
c.3856G= (p.Val1286=)
c.3916G= (p.Val1306=)
c.3466G= (p.Val1156=)
c.1768G= (p.Val590=)
c.1585G= (p.Val529=)
c.3817G= (p.Val1273=)
c.3769G= (p.Val1257=)
c.3538G= (p.Val1180=)
c.3439G= (p.Val1147=)
c.2620G= (p.Val874=)
n.4171G=
13g.51937345C>GCA388021100ATP7Bc.*1602G>C (n.*1602G>C)
c.*2696G>C (n.*2696G>C)
c.3331G>C (p.Val1111Leu)
c.3952G>C (p.Val1318Leu)
c.3619G>C (p.Val1207Leu)
c.3700G>C (p.Val1234Leu)
n.1275G>C
c.3718G>C (p.Val1240Leu)
n.4091G>C
n.818G>C
c.2887G>C (p.Val963Leu)
c.2662G>C (p.Val888Leu)
c.3757G>C (p.Val1253Leu)
c.1730G>C
c.*1053G>C (n.*1053G>C)
n.4696G>C
n.3297G>C
c.3808G>C (p.Val1270Leu)
c.3856G>C (p.Val1286Leu)
c.3916G>C (p.Val1306Leu)
c.3466G>C (p.Val1156Leu)
c.1768G>C (p.Val590Leu)
c.1585G>C (p.Val529Leu)
c.3817G>C (p.Val1273Leu)
c.3769G>C (p.Val1257Leu)
c.3538G>C (p.Val1180Leu)
c.3439G>C (p.Val1147Leu)
c.2620G>C (p.Val874Leu)
n.4171G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51937345C>TCA388021103ATP7Bc.*1602G>A (n.*1602G>A)
c.*2696G>A (n.*2696G>A)
c.3331G>A (p.Val1111Ile)
c.3952G>A (p.Val1318Ile)
c.3619G>A (p.Val1207Ile)
c.3700G>A (p.Val1234Ile)
n.1275G>A
c.3718G>A (p.Val1240Ile)
n.4091G>A
n.818G>A
c.2887G>A (p.Val963Ile)
c.2662G>A (p.Val888Ile)
c.3757G>A (p.Val1253Ile)
c.1730G>A
c.*1053G>A (n.*1053G>A)
n.4696G>A
n.3297G>A
c.3808G>A (p.Val1270Ile)
c.3856G>A (p.Val1286Ile)
c.3916G>A (p.Val1306Ile)
c.3466G>A (p.Val1156Ile)
c.1768G>A (p.Val590Ile)
c.1585G>A (p.Val529Ile)
c.3817G>A (p.Val1273Ile)
c.3769G>A (p.Val1257Ile)
c.3538G>A (p.Val1180Ile)
c.3439G>A (p.Val1147Ile)
c.2620G>A (p.Val874Ile)
n.4171G>A
13g.51937346A=CA2091553463ATP7Bc.*1601T= (n.*1601T=)
c.*2695T= (n.*2695T=)
c.3330T= (p.Thr1110=)
c.3951T= (p.Thr1317=)
c.3618T= (p.Thr1206=)
c.3699T= (p.Thr1233=)
n.1274T=
c.3717T= (p.Thr1239=)
n.4090T=
n.817T=
c.2886T= (p.Thr962=)
c.2661T= (p.Thr887=)
c.3756T= (p.Thr1252=)
c.1729T=
c.*1052T= (n.*1052T=)
n.4695T=
n.3296T=
c.3807T= (p.Thr1269=)
c.3855T= (p.Thr1285=)
c.3915T= (p.Thr1305=)
c.3465T= (p.Thr1155=)
c.1767T= (p.Thr589=)
c.1584T= (p.Thr528=)
c.3816T= (p.Thr1272=)
c.3768T= (p.Thr1256=)
c.3537T= (p.Thr1179=)
c.3438T= (p.Thr1146=)
c.2619T= (p.Thr873=)
n.4170T=
13g.51937346A>CCA483893509ATP7Bc.*1601T>G (n.*1601T>G)
c.*2695T>G (n.*2695T>G)
c.3330T>G (p.Thr1110=)
c.3951T>G (p.Thr1317=)
c.3618T>G (p.Thr1206=)
c.3699T>G (p.Thr1233=)
n.1274T>G
c.3717T>G (p.Thr1239=)
n.4090T>G
n.817T>G
c.2886T>G (p.Thr962=)
c.2661T>G (p.Thr887=)
c.3756T>G (p.Thr1252=)
c.1729T>G
c.*1052T>G (n.*1052T>G)
n.4695T>G
n.3296T>G
c.3807T>G (p.Thr1269=)
c.3855T>G (p.Thr1285=)
c.3915T>G (p.Thr1305=)
c.3465T>G (p.Thr1155=)
c.1767T>G (p.Thr589=)
c.1584T>G (p.Thr528=)
c.3816T>G (p.Thr1272=)
c.3768T>G (p.Thr1256=)
c.3537T>G (p.Thr1179=)
c.3438T>G (p.Thr1146=)
c.2619T>G (p.Thr873=)
n.4170T>G
13g.51937346A>GCA6988530ATP7Bc.*1601T>C (n.*1601T>C)
c.*2695T>C (n.*2695T>C)
c.3330T>C (p.Thr1110=)
c.3951T>C (p.Thr1317=)
c.3618T>C (p.Thr1206=)
c.3699T>C (p.Thr1233=)
n.1274T>C
c.3717T>C (p.Thr1239=)
n.4090T>C
n.817T>C
c.2886T>C (p.Thr962=)
c.2661T>C (p.Thr887=)
c.3756T>C (p.Thr1252=)
c.1729T>C
c.*1052T>C (n.*1052T>C)
n.4695T>C
n.3296T>C
c.3807T>C (p.Thr1269=)
c.3855T>C (p.Thr1285=)
c.3915T>C (p.Thr1305=)
c.3465T>C (p.Thr1155=)
c.1767T>C (p.Thr589=)
c.1584T>C (p.Thr528=)
c.3816T>C (p.Thr1272=)
c.3768T>C (p.Thr1256=)
c.3537T>C (p.Thr1179=)
c.3438T>C (p.Thr1146=)
c.2619T>C (p.Thr873=)
n.4170T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937346A>TCA483893510ATP7Bc.*1601T>A (n.*1601T>A)
c.*2695T>A (n.*2695T>A)
c.3330T>A (p.Thr1110=)
c.3951T>A (p.Thr1317=)
c.3618T>A (p.Thr1206=)
c.3699T>A (p.Thr1233=)
n.1274T>A
c.3717T>A (p.Thr1239=)
n.4090T>A
n.817T>A
c.2886T>A (p.Thr962=)
c.2661T>A (p.Thr887=)
c.3756T>A (p.Thr1252=)
c.1729T>A
c.*1052T>A (n.*1052T>A)
n.4695T>A
n.3296T>A
c.3807T>A (p.Thr1269=)
c.3855T>A (p.Thr1285=)
c.3915T>A (p.Thr1305=)
c.3465T>A (p.Thr1155=)
c.1767T>A (p.Thr589=)
c.1584T>A (p.Thr528=)
c.3816T>A (p.Thr1272=)
c.3768T>A (p.Thr1256=)
c.3537T>A (p.Thr1179=)
c.3438T>A (p.Thr1146=)
c.2619T>A (p.Thr873=)
n.4170T>A
13g.51937347G>ACA388021106ATP7Bc.*1600C>T (n.*1600C>T)
c.*2694C>T (n.*2694C>T)
c.3329C>T (p.Thr1110Ile)
c.3950C>T (p.Thr1317Ile)
c.3617C>T (p.Thr1206Ile)
c.3698C>T (p.Thr1233Ile)
n.1273C>T
c.3716C>T (p.Thr1239Ile)
n.4089C>T
n.816C>T
c.2885C>T (p.Thr962Ile)
c.2660C>T (p.Thr887Ile)
c.3755C>T (p.Thr1252Ile)
c.1728C>T
c.*1051C>T (n.*1051C>T)
n.4694C>T
n.3295C>T
c.3806C>T (p.Thr1269Ile)
c.3854C>T (p.Thr1285Ile)
c.3914C>T (p.Thr1305Ile)
c.3464C>T (p.Thr1155Ile)
c.1766C>T (p.Thr589Ile)
c.1583C>T (p.Thr528Ile)
c.3815C>T (p.Thr1272Ile)
c.3767C>T (p.Thr1256Ile)
c.3536C>T (p.Thr1179Ile)
c.3437C>T (p.Thr1146Ile)
c.2618C>T (p.Thr873Ile)
n.4169C>T
 dbSNP gnomAD v2 gnomAD v4
13g.51937347G>CCA388021109ATP7Bc.*1600C>G (n.*1600C>G)
c.*2694C>G (n.*2694C>G)
c.3329C>G (p.Thr1110Ser)
c.3950C>G (p.Thr1317Ser)
c.3617C>G (p.Thr1206Ser)
c.3698C>G (p.Thr1233Ser)
n.1273C>G
c.3716C>G (p.Thr1239Ser)
n.4089C>G
n.816C>G
c.2885C>G (p.Thr962Ser)
c.2660C>G (p.Thr887Ser)
c.3755C>G (p.Thr1252Ser)
c.1728C>G
c.*1051C>G (n.*1051C>G)
n.4694C>G
n.3295C>G
c.3806C>G (p.Thr1269Ser)
c.3854C>G (p.Thr1285Ser)
c.3914C>G (p.Thr1305Ser)
c.3464C>G (p.Thr1155Ser)
c.1766C>G (p.Thr589Ser)
c.1583C>G (p.Thr528Ser)
c.3815C>G (p.Thr1272Ser)
c.3767C>G (p.Thr1256Ser)
c.3536C>G (p.Thr1179Ser)
c.3437C>G (p.Thr1146Ser)
c.2618C>G (p.Thr873Ser)
n.4169C>G
13g.51937347G=CA2091553465ATP7Bc.*1600C= (n.*1600C=)
c.*2694C= (n.*2694C=)
c.3329C= (p.Thr1110=)
c.3950C= (p.Thr1317=)
c.3617C= (p.Thr1206=)
c.3698C= (p.Thr1233=)
n.1273C=
c.3716C= (p.Thr1239=)
n.4089C=
n.816C=
c.2885C= (p.Thr962=)
c.2660C= (p.Thr887=)
c.3755C= (p.Thr1252=)
c.1728C=
c.*1051C= (n.*1051C=)
n.4694C=
n.3295C=
c.3806C= (p.Thr1269=)
c.3854C= (p.Thr1285=)
c.3914C= (p.Thr1305=)
c.3464C= (p.Thr1155=)
c.1766C= (p.Thr589=)
c.1583C= (p.Thr528=)
c.3815C= (p.Thr1272=)
c.3767C= (p.Thr1256=)
c.3536C= (p.Thr1179=)
c.3437C= (p.Thr1146=)
c.2618C= (p.Thr873=)
n.4169C=
13g.51937347G>TCA388021112ATP7Bc.*1600C>A (n.*1600C>A)
c.*2694C>A (n.*2694C>A)
c.3329C>A (p.Thr1110Asn)
c.3950C>A (p.Thr1317Asn)
c.3617C>A (p.Thr1206Asn)
c.3698C>A (p.Thr1233Asn)
n.1273C>A
c.3716C>A (p.Thr1239Asn)
n.4089C>A
n.816C>A
c.2885C>A (p.Thr962Asn)
c.2660C>A (p.Thr887Asn)
c.3755C>A (p.Thr1252Asn)
c.1728C>A
c.*1051C>A (n.*1051C>A)
n.4694C>A
n.3295C>A
c.3806C>A (p.Thr1269Asn)
c.3854C>A (p.Thr1285Asn)
c.3914C>A (p.Thr1305Asn)
c.3464C>A (p.Thr1155Asn)
c.1766C>A (p.Thr589Asn)
c.1583C>A (p.Thr528Asn)
c.3815C>A (p.Thr1272Asn)
c.3767C>A (p.Thr1256Asn)
c.3536C>A (p.Thr1179Asn)
c.3437C>A (p.Thr1146Asn)
c.2618C>A (p.Thr873Asn)
n.4169C>A
13g.51937348T>ACA388021116ATP7Bc.*1599A>T (n.*1599A>T)
c.*2693A>T (n.*2693A>T)
c.3328A>T (p.Thr1110Ser)
c.3949A>T (p.Thr1317Ser)
c.3616A>T (p.Thr1206Ser)
c.3697A>T (p.Thr1233Ser)
n.1272A>T
c.3715A>T (p.Thr1239Ser)
n.4088A>T
n.815A>T
c.2884A>T (p.Thr962Ser)
c.2659A>T (p.Thr887Ser)
c.3754A>T (p.Thr1252Ser)
c.1727A>T
c.*1050A>T (n.*1050A>T)
n.4693A>T
n.3294A>T
c.3805A>T (p.Thr1269Ser)
c.3853A>T (p.Thr1285Ser)
c.3913A>T (p.Thr1305Ser)
c.3463A>T (p.Thr1155Ser)
c.1765A>T (p.Thr589Ser)
c.1582A>T (p.Thr528Ser)
c.3814A>T (p.Thr1272Ser)
c.3766A>T (p.Thr1256Ser)
c.3535A>T (p.Thr1179Ser)
c.3436A>T (p.Thr1146Ser)
c.2617A>T (p.Thr873Ser)
n.4168A>T
13g.51937348T>CCA6988531ATP7Bc.*1599A>G (n.*1599A>G)
c.*2693A>G (n.*2693A>G)
c.3328A>G (p.Thr1110Ala)
c.3949A>G (p.Thr1317Ala)
c.3616A>G (p.Thr1206Ala)
c.3697A>G (p.Thr1233Ala)
n.1272A>G
c.3715A>G (p.Thr1239Ala)
n.4088A>G
n.815A>G
c.2884A>G (p.Thr962Ala)
c.2659A>G (p.Thr887Ala)
c.3754A>G (p.Thr1252Ala)
c.1727A>G
c.*1050A>G (n.*1050A>G)
n.4693A>G
n.3294A>G
c.3805A>G (p.Thr1269Ala)
c.3853A>G (p.Thr1285Ala)
c.3913A>G (p.Thr1305Ala)
c.3463A>G (p.Thr1155Ala)
c.1765A>G (p.Thr589Ala)
c.1582A>G (p.Thr528Ala)
c.3814A>G (p.Thr1272Ala)
c.3766A>G (p.Thr1256Ala)
c.3535A>G (p.Thr1179Ala)
c.3436A>G (p.Thr1146Ala)
c.2617A>G (p.Thr873Ala)
n.4168A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51937348T>GCA388021115ATP7Bc.*1599A>C (n.*1599A>C)
c.*2693A>C (n.*2693A>C)
c.3328A>C (p.Thr1110Pro)
c.3949A>C (p.Thr1317Pro)
c.3616A>C (p.Thr1206Pro)
c.3697A>C (p.Thr1233Pro)
n.1272A>C
c.3715A>C (p.Thr1239Pro)
n.4088A>C
n.815A>C
c.2884A>C (p.Thr962Pro)
c.2659A>C (p.Thr887Pro)
c.3754A>C (p.Thr1252Pro)
c.1727A>C
c.*1050A>C (n.*1050A>C)
n.4693A>C
n.3294A>C
c.3805A>C (p.Thr1269Pro)
c.3853A>C (p.Thr1285Pro)
c.3913A>C (p.Thr1305Pro)
c.3463A>C (p.Thr1155Pro)
c.1765A>C (p.Thr589Pro)
c.1582A>C (p.Thr528Pro)
c.3814A>C (p.Thr1272Pro)
c.3766A>C (p.Thr1256Pro)
c.3535A>C (p.Thr1179Pro)
c.3436A>C (p.Thr1146Pro)
c.2617A>C (p.Thr873Pro)
n.4168A>C
13g.51937348T=CA2091553469ATP7Bc.*1599A= (n.*1599A=)
c.*2693A= (n.*2693A=)
c.3328A= (p.Thr1110=)
c.3949A= (p.Thr1317=)
c.3616A= (p.Thr1206=)
c.3697A= (p.Thr1233=)
n.1272A=
c.3715A= (p.Thr1239=)
n.4088A=
n.815A=
c.2884A= (p.Thr962=)
c.2659A= (p.Thr887=)
c.3754A= (p.Thr1252=)
c.1727A=
c.*1050A= (n.*1050A=)
n.4693A=
n.3294A=
c.3805A= (p.Thr1269=)
c.3853A= (p.Thr1285=)
c.3913A= (p.Thr1305=)
c.3463A= (p.Thr1155=)
c.1765A= (p.Thr589=)
c.1582A= (p.Thr528=)
c.3814A= (p.Thr1272=)
c.3766A= (p.Thr1256=)
c.3535A= (p.Thr1179=)
c.3436A= (p.Thr1146=)
c.2617A= (p.Thr873=)
n.4168A=
13g.51937348_51937349delinsTCCA2091553470ATP7Bc.*1598_*1599delinsGA (n.*1598_*1599delinsGA)
c.*2692_*2693delinsGA (n.*2692_*2693delinsGA)
c.3327_3328delinsGA (p.Arg1109=)
c.3948_3949delinsGA (p.Arg1316=)
c.3615_3616delinsGA (p.Arg1205=)
c.3696_3697delinsGA (p.Arg1232=)
n.1271_1272delinsGA
c.3714_3715delinsGA (p.Arg1238=)
n.4087_4088delinsGA
n.814_815delinsGA
c.2883_2884delinsGA (p.Arg961=)
c.2658_2659delinsGA (p.Arg886=)
c.3753_3754delinsGA (p.Arg1251=)
c.1726_1727delinsGA
c.*1049_*1050delinsGA (n.*1049_*1050delinsGA)
n.4692_4693delinsGA
n.3293_3294delinsGA
c.3804_3805delinsGA (p.Arg1268=)
c.3852_3853delinsGA (p.Arg1284=)
c.3912_3913delinsGA (p.Arg1304=)
c.3462_3463delinsGA (p.Arg1154=)
c.1764_1765delinsGA (p.Arg588=)
c.1581_1582delinsGA (p.Arg527=)
c.3813_3814delinsGA (p.Arg1271=)
c.3765_3766delinsGA (p.Arg1255=)
c.3534_3535delinsGA (p.Arg1178=)
c.3435_3436delinsGA (p.Arg1145=)
c.2616_2617delinsGA (p.Arg872=)
n.4167_4168delinsGA
13g.51937349C>ACA388021117ATP7Bc.*1598G>T (n.*1598G>T)
c.*2692G>T (n.*2692G>T)
c.3327G>T (p.Arg1109Ser)
c.3948G>T (p.Arg1316Ser)
c.3615G>T (p.Arg1205Ser)
c.3696G>T (p.Arg1232Ser)
n.1271G>T
c.3714G>T (p.Arg1238Ser)
n.4087G>T
n.814G>T
c.2883G>T (p.Arg961Ser)
c.2658G>T (p.Arg886Ser)
c.3753G>T (p.Arg1251Ser)
c.1726G>T
c.*1049G>T (n.*1049G>T)
n.4692G>T
n.3293G>T
c.3804G>T (p.Arg1268Ser)
c.3852G>T (p.Arg1284Ser)
c.3912G>T (p.Arg1304Ser)
c.3462G>T (p.Arg1154Ser)
c.1764G>T (p.Arg588Ser)
c.1581G>T (p.Arg527Ser)
c.3813G>T (p.Arg1271Ser)
c.3765G>T (p.Arg1255Ser)
c.3534G>T (p.Arg1178Ser)
c.3435G>T (p.Arg1145Ser)
c.2616G>T (p.Arg872Ser)
n.4167G>T
13g.51937349C>GCA388021118ATP7Bc.*1598G>C (n.*1598G>C)
c.*2692G>C (n.*2692G>C)
c.3327G>C (p.Arg1109Ser)
c.3948G>C (p.Arg1316Ser)
c.3615G>C (p.Arg1205Ser)
c.3696G>C (p.Arg1232Ser)
n.1271G>C
c.3714G>C (p.Arg1238Ser)
n.4087G>C
n.814G>C
c.2883G>C (p.Arg961Ser)
c.2658G>C (p.Arg886Ser)
c.3753G>C (p.Arg1251Ser)
c.1726G>C
c.*1049G>C (n.*1049G>C)
n.4692G>C
n.3293G>C
c.3804G>C (p.Arg1268Ser)
c.3852G>C (p.Arg1284Ser)
c.3912G>C (p.Arg1304Ser)
c.3462G>C (p.Arg1154Ser)
c.1764G>C (p.Arg588Ser)
c.1581G>C (p.Arg527Ser)
c.3813G>C (p.Arg1271Ser)
c.3765G>C (p.Arg1255Ser)
c.3534G>C (p.Arg1178Ser)
c.3435G>C (p.Arg1145Ser)
c.2616G>C (p.Arg872Ser)
n.4167G>C
13g.51937349C>TCA484024237ATP7Bc.*1598G>A (n.*1598G>A)
c.*2692G>A (n.*2692G>A)
c.3327G>A (p.Arg1109=)
c.3948G>A (p.Arg1316=)
c.3615G>A (p.Arg1205=)
c.3696G>A (p.Arg1232=)
n.1271G>A
c.3714G>A (p.Arg1238=)
n.4087G>A
n.814G>A
c.2883G>A (p.Arg961=)
c.2658G>A (p.Arg886=)
c.3753G>A (p.Arg1251=)
c.1726G>A
c.*1049G>A (n.*1049G>A)
n.4692G>A
n.3293G>A
c.3804G>A (p.Arg1268=)
c.3852G>A (p.Arg1284=)
c.3912G>A (p.Arg1304=)
c.3462G>A (p.Arg1154=)
c.1764G>A (p.Arg588=)
c.1581G>A (p.Arg527=)
c.3813G>A (p.Arg1271=)
c.3765G>A (p.Arg1255=)
c.3534G>A (p.Arg1178=)
c.3435G>A (p.Arg1145=)
c.2616G>A (p.Arg872=)
n.4167G>A
13g.51937350delCA16041661ATP7Bc.*1598del (n.*1598del)
c.*2692del (n.*2692del)
c.3327del (p.Thr1110LeufsTer13)
c.3948del (p.Thr1317LeufsTer13)
c.3615del (p.Thr1206LeufsTer13)
c.3696del (p.Thr1233LeufsTer13)
n.1271del
c.3714del (p.Thr1239LeufsTer13)
n.4087del
n.814del
c.2883del (p.Thr962LeufsTer13)
c.2658del (p.Thr887LeufsTer13)
c.3753del (p.Thr1252LeufsTer13)
c.1726del
c.*1049del (n.*1049del)
n.4692del
n.3293del
c.3804del (p.Thr1269LeufsTer13)
c.3852del (p.Thr1285LeufsTer13)
c.3912del (p.Thr1305LeufsTer13)
c.3462del (p.Thr1155LeufsTer13)
c.1764del (p.Thr589LeufsTer13)
c.1581del (p.Thr528LeufsTer13)
c.3813del (p.Thr1272LeufsTer13)
c.3765del (p.Thr1256LeufsTer13)
c.3534del (p.Thr1179LeufsTer13)
c.3435del (p.Thr1146LeufsTer13)
c.2616del (p.Thr873LeufsTer13)
n.4167del
 ClinVar dbSNP gnomAD v4
13g.51937350C>ACA388021119ATP7Bc.*1597G>T (n.*1597G>T)
c.*2691G>T (n.*2691G>T)
c.3326G>T (p.Arg1109Met)
c.3947G>T (p.Arg1316Met)
c.3614G>T (p.Arg1205Met)
c.3695G>T (p.Arg1232Met)
n.1270G>T
c.3713G>T (p.Arg1238Met)
n.4086G>T
n.813G>T
c.2882G>T (p.Arg961Met)
c.2657G>T (p.Arg886Met)
c.3752G>T (p.Arg1251Met)
c.1725G>T
c.*1048G>T (n.*1048G>T)
n.4691G>T
n.3292G>T
c.3803G>T (p.Arg1268Met)
c.3851G>T (p.Arg1284Met)
c.3911G>T (p.Arg1304Met)
c.3461G>T (p.Arg1154Met)
c.1763G>T (p.Arg588Met)
c.1580G>T (p.Arg527Met)
c.3812G>T (p.Arg1271Met)
c.3764G>T (p.Arg1255Met)
c.3533G>T (p.Arg1178Met)
c.3434G>T (p.Arg1145Met)
c.2615G>T (p.Arg872Met)
n.4166G>T
13g.51937350C=CA2091553479ATP7Bc.*1597G= (n.*1597G=)
c.*2691G= (n.*2691G=)
c.3326G= (p.Arg1109=)
c.3947G= (p.Arg1316=)
c.3614G= (p.Arg1205=)
c.3695G= (p.Arg1232=)
n.1270G=
c.3713G= (p.Arg1238=)
n.4086G=
n.813G=
c.2882G= (p.Arg961=)
c.2657G= (p.Arg886=)
c.3752G= (p.Arg1251=)
c.1725G=
c.*1048G= (n.*1048G=)
n.4691G=
n.3292G=
c.3803G= (p.Arg1268=)
c.3851G= (p.Arg1284=)
c.3911G= (p.Arg1304=)
c.3461G= (p.Arg1154=)
c.1763G= (p.Arg588=)
c.1580G= (p.Arg527=)
c.3812G= (p.Arg1271=)
c.3764G= (p.Arg1255=)
c.3533G= (p.Arg1178=)
c.3434G= (p.Arg1145=)
c.2615G= (p.Arg872=)
n.4166G=
13g.51937350C>GCA388021121ATP7Bc.*1597G>C (n.*1597G>C)
c.*2691G>C (n.*2691G>C)
c.3326G>C (p.Arg1109Thr)
c.3947G>C (p.Arg1316Thr)
c.3614G>C (p.Arg1205Thr)
c.3695G>C (p.Arg1232Thr)
n.1270G>C
c.3713G>C (p.Arg1238Thr)
n.4086G>C
n.813G>C
c.2882G>C (p.Arg961Thr)
c.2657G>C (p.Arg886Thr)
c.3752G>C (p.Arg1251Thr)
c.1725G>C
c.*1048G>C (n.*1048G>C)
n.4691G>C
n.3292G>C
c.3803G>C (p.Arg1268Thr)
c.3851G>C (p.Arg1284Thr)
c.3911G>C (p.Arg1304Thr)
c.3461G>C (p.Arg1154Thr)
c.1763G>C (p.Arg588Thr)
c.1580G>C (p.Arg527Thr)
c.3812G>C (p.Arg1271Thr)
c.3764G>C (p.Arg1255Thr)
c.3533G>C (p.Arg1178Thr)
c.3434G>C (p.Arg1145Thr)
c.2615G>C (p.Arg872Thr)
n.4166G>C
13g.51937350C>TCA388021122ATP7Bc.*1597G>A (n.*1597G>A)
c.*2691G>A (n.*2691G>A)
c.3326G>A (p.Arg1109Lys)
c.3947G>A (p.Arg1316Lys)
c.3614G>A (p.Arg1205Lys)
c.3695G>A (p.Arg1232Lys)
n.1270G>A
c.3713G>A (p.Arg1238Lys)
n.4086G>A
n.813G>A
c.2882G>A (p.Arg961Lys)
c.2657G>A (p.Arg886Lys)
c.3752G>A (p.Arg1251Lys)
c.1725G>A
c.*1048G>A (n.*1048G>A)
n.4691G>A
n.3292G>A
c.3803G>A (p.Arg1268Lys)
c.3851G>A (p.Arg1284Lys)
c.3911G>A (p.Arg1304Lys)
c.3461G>A (p.Arg1154Lys)
c.1763G>A (p.Arg588Lys)
c.1580G>A (p.Arg527Lys)
c.3812G>A (p.Arg1271Lys)
c.3764G>A (p.Arg1255Lys)
c.3533G>A (p.Arg1178Lys)
c.3434G>A (p.Arg1145Lys)
c.2615G>A (p.Arg872Lys)
n.4166G>A
 dbSNP gnomAD v2 gnomAD v4
13g.51937350_51937355delinsTCTCA2499222484ATP7Bc.*1592_*1597delinsAGA (n.*1592_*1597delinsAGA)
c.*2686_*2691delinsAGA (n.*2686_*2691delinsAGA)
c.3321_3326delinsAGA (p.Lys1108_Arg1109delinsGlu)
c.3942_3947delinsAGA (p.Lys1315_Arg1316delinsGlu)
c.3609_3614delinsAGA (p.Lys1204_Arg1205delinsGlu)
c.3690_3695delinsAGA (p.Lys1231_Arg1232delinsGlu)
n.1265_1270delinsAGA
c.3708_3713delinsAGA (p.Lys1237_Arg1238delinsGlu)
n.4081_4086delinsAGA
n.808_813delinsAGA
c.2877_2882delinsAGA (p.Lys960_Arg961delinsGlu)
c.2652_2657delinsAGA (p.Lys885_Arg886delinsGlu)
c.3747_3752delinsAGA (p.Lys1250_Arg1251delinsGlu)
c.1720_1725delinsAGA
c.*1043_*1048delinsAGA (n.*1043_*1048delinsAGA)
n.4686_4691delinsAGA
n.3287_3292delinsAGA
c.3798_3803delinsAGA (p.Lys1267_Arg1268delinsGlu)
c.3846_3851delinsAGA (p.Lys1283_Arg1284delinsGlu)
c.3906_3911delinsAGA (p.Lys1303_Arg1304delinsGlu)
c.3456_3461delinsAGA (p.Lys1153_Arg1154delinsGlu)
c.1758_1763delinsAGA (p.Lys587_Arg588delinsGlu)
c.1575_1580delinsAGA (p.Lys526_Arg527delinsGlu)
c.3807_3812delinsAGA (p.Lys1270_Arg1271delinsGlu)
c.3759_3764delinsAGA (p.Lys1254_Arg1255delinsGlu)
c.3528_3533delinsAGA (p.Lys1177_Arg1178delinsGlu)
c.3429_3434delinsAGA (p.Lys1144_Arg1145delinsGlu)
c.2610_2615delinsAGA (p.Lys871_Arg872delinsGlu)
n.4161_4166delinsAGA
 ClinVar dbSNP
13g.51937351T>ACA388021124ATP7Bc.*1596A>T (n.*1596A>T)
c.*2690A>T (n.*2690A>T)
c.3325A>T (p.Arg1109Trp)
c.3946A>T (p.Arg1316Trp)
c.3613A>T (p.Arg1205Trp)
c.3694A>T (p.Arg1232Trp)
n.1269A>T
c.3712A>T (p.Arg1238Trp)
n.4085A>T
n.812A>T
c.2881A>T (p.Arg961Trp)
c.2656A>T (p.Arg886Trp)
c.3751A>T (p.Arg1251Trp)
c.1724A>T
c.*1047A>T (n.*1047A>T)
n.4690A>T
n.3291A>T
c.3802A>T (p.Arg1268Trp)
c.3850A>T (p.Arg1284Trp)
c.3910A>T (p.Arg1304Trp)
c.3460A>T (p.Arg1154Trp)
c.1762A>T (p.Arg588Trp)
c.1579A>T (p.Arg527Trp)
c.3811A>T (p.Arg1271Trp)
c.3763A>T (p.Arg1255Trp)
c.3532A>T (p.Arg1178Trp)
c.3433A>T (p.Arg1145Trp)
c.2614A>T (p.Arg872Trp)
n.4165A>T
13g.51937351T>CCA388021125ATP7Bc.*1596A>G (n.*1596A>G)
c.*2690A>G (n.*2690A>G)
c.3325A>G (p.Arg1109Gly)
c.3946A>G (p.Arg1316Gly)
c.3613A>G (p.Arg1205Gly)
c.3694A>G (p.Arg1232Gly)
n.1269A>G
c.3712A>G (p.Arg1238Gly)
n.4085A>G
n.812A>G
c.2881A>G (p.Arg961Gly)
c.2656A>G (p.Arg886Gly)
c.3751A>G (p.Arg1251Gly)
c.1724A>G
c.*1047A>G (n.*1047A>G)
n.4690A>G
n.3291A>G
c.3802A>G (p.Arg1268Gly)
c.3850A>G (p.Arg1284Gly)
c.3910A>G (p.Arg1304Gly)
c.3460A>G (p.Arg1154Gly)
c.1762A>G (p.Arg588Gly)
c.1579A>G (p.Arg527Gly)
c.3811A>G (p.Arg1271Gly)
c.3763A>G (p.Arg1255Gly)
c.3532A>G (p.Arg1178Gly)
c.3433A>G (p.Arg1145Gly)
c.2614A>G (p.Arg872Gly)
n.4165A>G
13g.51937351T>GCA484024238ATP7Bc.*1596A>C (n.*1596A>C)
c.*2690A>C (n.*2690A>C)
c.3325A>C (p.Arg1109=)
c.3946A>C (p.Arg1316=)
c.3613A>C (p.Arg1205=)
c.3694A>C (p.Arg1232=)
n.1269A>C
c.3712A>C (p.Arg1238=)
n.4085A>C
n.812A>C
c.2881A>C (p.Arg961=)
c.2656A>C (p.Arg886=)
c.3751A>C (p.Arg1251=)
c.1724A>C
c.*1047A>C (n.*1047A>C)
n.4690A>C
n.3291A>C
c.3802A>C (p.Arg1268=)
c.3850A>C (p.Arg1284=)
c.3910A>C (p.Arg1304=)
c.3460A>C (p.Arg1154=)
c.1762A>C (p.Arg588=)
c.1579A>C (p.Arg527=)
c.3811A>C (p.Arg1271=)
c.3763A>C (p.Arg1255=)
c.3532A>C (p.Arg1178=)
c.3433A>C (p.Arg1145=)
c.2614A>C (p.Arg872=)
n.4165A>C
13g.51937352C>ACA388021127ATP7Bc.*1595G>T (n.*1595G>T)
c.*2689G>T (n.*2689G>T)
c.3324G>T (p.Lys1108Asn)
c.3945G>T (p.Lys1315Asn)
c.3612G>T (p.Lys1204Asn)
c.3693G>T (p.Lys1231Asn)
n.1268G>T
c.3711G>T (p.Lys1237Asn)
n.4084G>T
n.811G>T
c.2880G>T (p.Lys960Asn)
c.2655G>T (p.Lys885Asn)
c.3750G>T (p.Lys1250Asn)
c.1723G>T
c.*1046G>T (n.*1046G>T)
n.4689G>T
n.3290G>T
c.3801G>T (p.Lys1267Asn)
c.3849G>T (p.Lys1283Asn)
c.3909G>T (p.Lys1303Asn)
c.3459G>T (p.Lys1153Asn)
c.1761G>T (p.Lys587Asn)
c.1578G>T (p.Lys526Asn)
c.3810G>T (p.Lys1270Asn)
c.3762G>T (p.Lys1254Asn)
c.3531G>T (p.Lys1177Asn)
c.3432G>T (p.Lys1144Asn)
c.2613G>T (p.Lys871Asn)
n.4164G>T
13g.51937352C=CA2091553482ATP7Bc.*1595G= (n.*1595G=)
c.*2689G= (n.*2689G=)
c.3324G= (p.Lys1108=)
c.3945G= (p.Lys1315=)
c.3612G= (p.Lys1204=)
c.3693G= (p.Lys1231=)
n.1268G=
c.3711G= (p.Lys1237=)
n.4084G=
n.811G=
c.2880G= (p.Lys960=)
c.2655G= (p.Lys885=)
c.3750G= (p.Lys1250=)
c.1723G=
c.*1046G= (n.*1046G=)
n.4689G=
n.3290G=
c.3801G= (p.Lys1267=)
c.3849G= (p.Lys1283=)
c.3909G= (p.Lys1303=)
c.3459G= (p.Lys1153=)
c.1761G= (p.Lys587=)
c.1578G= (p.Lys526=)
c.3810G= (p.Lys1270=)
c.3762G= (p.Lys1254=)
c.3531G= (p.Lys1177=)
c.3432G= (p.Lys1144=)
c.2613G= (p.Lys871=)
n.4164G=
13g.51937352C>GCA388021129ATP7Bc.*1595G>C (n.*1595G>C)
c.*2689G>C (n.*2689G>C)
c.3324G>C (p.Lys1108Asn)
c.3945G>C (p.Lys1315Asn)
c.3612G>C (p.Lys1204Asn)
c.3693G>C (p.Lys1231Asn)
n.1268G>C
c.3711G>C (p.Lys1237Asn)
n.4084G>C
n.811G>C
c.2880G>C (p.Lys960Asn)
c.2655G>C (p.Lys885Asn)
c.3750G>C (p.Lys1250Asn)
c.1723G>C
c.*1046G>C (n.*1046G>C)
n.4689G>C
n.3290G>C
c.3801G>C (p.Lys1267Asn)
c.3849G>C (p.Lys1283Asn)
c.3909G>C (p.Lys1303Asn)
c.3459G>C (p.Lys1153Asn)
c.1761G>C (p.Lys587Asn)
c.1578G>C (p.Lys526Asn)
c.3810G>C (p.Lys1270Asn)
c.3762G>C (p.Lys1254Asn)
c.3531G>C (p.Lys1177Asn)
c.3432G>C (p.Lys1144Asn)
c.2613G>C (p.Lys871Asn)
n.4164G>C
13g.51937352C>TCA484024239ATP7Bc.*1595G>A (n.*1595G>A)
c.*2689G>A (n.*2689G>A)
c.3324G>A (p.Lys1108=)
c.3945G>A (p.Lys1315=)
c.3612G>A (p.Lys1204=)
c.3693G>A (p.Lys1231=)
n.1268G>A
c.3711G>A (p.Lys1237=)
n.4084G>A
n.811G>A
c.2880G>A (p.Lys960=)
c.2655G>A (p.Lys885=)
c.3750G>A (p.Lys1250=)
c.1723G>A
c.*1046G>A (n.*1046G>A)
n.4689G>A
n.3290G>A
c.3801G>A (p.Lys1267=)
c.3849G>A (p.Lys1283=)
c.3909G>A (p.Lys1303=)
c.3459G>A (p.Lys1153=)
c.1761G>A (p.Lys587=)
c.1578G>A (p.Lys526=)
c.3810G>A (p.Lys1270=)
c.3762G>A (p.Lys1254=)
c.3531G>A (p.Lys1177=)
c.3432G>A (p.Lys1144=)
c.2613G>A (p.Lys871=)
n.4164G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51937354_51937369delCA2623119065ATP7Bc.*1580_*1595del (n.*1580_*1595del)
c.*2674_*2689del (n.*2674_*2689del)
c.3309_3324del (p.Ser1103ArgfsTer15)
c.3930_3945del (p.Ser1310ArgfsTer15)
c.3597_3612del (p.Ser1199ArgfsTer15)
c.3678_3693del (p.Ser1226ArgfsTer15)
n.1253_1268del
c.3696_3711del (p.Ser1232ArgfsTer15)
n.4069_4084del
n.796_811del
c.2865_2880del (p.Ser955ArgfsTer15)
c.2640_2655del (p.Ser880ArgfsTer15)
c.3735_3750del (p.Ser1245ArgfsTer15)
c.1708_1723del
c.*1031_*1046del (n.*1031_*1046del)
n.4674_4689del
n.3275_3290del
c.3786_3801del (p.Ser1262ArgfsTer15)
c.3834_3849del (p.Ser1278ArgfsTer15)
c.3894_3909del (p.Ser1298ArgfsTer15)
c.3444_3459del (p.Ser1148ArgfsTer15)
c.1746_1761del (p.Ser582ArgfsTer15)
c.1563_1578del (p.Ser521ArgfsTer15)
c.3795_3810del (p.Ser1265ArgfsTer15)
c.3747_3762del (p.Ser1249ArgfsTer15)
c.3516_3531del (p.Ser1172ArgfsTer15)
c.3417_3432del (p.Ser1139ArgfsTer15)
c.2598_2613del (p.Ser866ArgfsTer15)
n.4149_4164del
 gnomAD v4
13g.51937353T>ACA388021131ATP7Bc.*1594A>T (n.*1594A>T)
c.*2688A>T (n.*2688A>T)
c.3323A>T (p.Lys1108Met)
c.3944A>T (p.Lys1315Met)
c.3611A>T (p.Lys1204Met)
c.3692A>T (p.Lys1231Met)
n.1267A>T
c.3710A>T (p.Lys1237Met)
n.4083A>T
n.810A>T
c.2879A>T (p.Lys960Met)
c.2654A>T (p.Lys885Met)
c.3749A>T (p.Lys1250Met)
c.1722A>T
c.*1045A>T (n.*1045A>T)
n.4688A>T
n.3289A>T
c.3800A>T (p.Lys1267Met)
c.3848A>T (p.Lys1283Met)
c.3908A>T (p.Lys1303Met)
c.3458A>T (p.Lys1153Met)
c.1760A>T (p.Lys587Met)
c.1577A>T (p.Lys526Met)
c.3809A>T (p.Lys1270Met)
c.3761A>T (p.Lys1254Met)
c.3530A>T (p.Lys1177Met)
c.3431A>T (p.Lys1144Met)
c.2612A>T (p.Lys871Met)
n.4163A>T
13g.51937353T>CCA388021132ATP7Bc.*1594A>G (n.*1594A>G)
c.*2688A>G (n.*2688A>G)
c.3323A>G (p.Lys1108Arg)
c.3944A>G (p.Lys1315Arg)
c.3611A>G (p.Lys1204Arg)
c.3692A>G (p.Lys1231Arg)
n.1267A>G
c.3710A>G (p.Lys1237Arg)
n.4083A>G
n.810A>G
c.2879A>G (p.Lys960Arg)
c.2654A>G (p.Lys885Arg)
c.3749A>G (p.Lys1250Arg)
c.1722A>G
c.*1045A>G (n.*1045A>G)
n.4688A>G
n.3289A>G
c.3800A>G (p.Lys1267Arg)
c.3848A>G (p.Lys1283Arg)
c.3908A>G (p.Lys1303Arg)
c.3458A>G (p.Lys1153Arg)
c.1760A>G (p.Lys587Arg)
c.1577A>G (p.Lys526Arg)
c.3809A>G (p.Lys1270Arg)
c.3761A>G (p.Lys1254Arg)
c.3530A>G (p.Lys1177Arg)
c.3431A>G (p.Lys1144Arg)
c.2612A>G (p.Lys871Arg)
n.4163A>G
 dbSNP gnomAD v3 gnomAD v4
13g.51937353T>GCA388021133ATP7Bc.*1594A>C (n.*1594A>C)
c.*2688A>C (n.*2688A>C)
c.3323A>C (p.Lys1108Thr)
c.3944A>C (p.Lys1315Thr)
c.3611A>C (p.Lys1204Thr)
c.3692A>C (p.Lys1231Thr)
n.1267A>C
c.3710A>C (p.Lys1237Thr)
n.4083A>C
n.810A>C
c.2879A>C (p.Lys960Thr)
c.2654A>C (p.Lys885Thr)
c.3749A>C (p.Lys1250Thr)
c.1722A>C
c.*1045A>C (n.*1045A>C)
n.4688A>C
n.3289A>C
c.3800A>C (p.Lys1267Thr)
c.3848A>C (p.Lys1283Thr)
c.3908A>C (p.Lys1303Thr)
c.3458A>C (p.Lys1153Thr)
c.1760A>C (p.Lys587Thr)
c.1577A>C (p.Lys526Thr)
c.3809A>C (p.Lys1270Thr)
c.3761A>C (p.Lys1254Thr)
c.3530A>C (p.Lys1177Thr)
c.3431A>C (p.Lys1144Thr)
c.2612A>C (p.Lys871Thr)
n.4163A>C
13g.51937353T=CA2091553488ATP7Bc.*1594A= (n.*1594A=)
c.*2688A= (n.*2688A=)
c.3323A= (p.Lys1108=)
c.3944A= (p.Lys1315=)
c.3611A= (p.Lys1204=)
c.3692A= (p.Lys1231=)
n.1267A=
c.3710A= (p.Lys1237=)
n.4083A=
n.810A=
c.2879A= (p.Lys960=)
c.2654A= (p.Lys885=)
c.3749A= (p.Lys1250=)
c.1722A=
c.*1045A= (n.*1045A=)
n.4688A=
n.3289A=
c.3800A= (p.Lys1267=)
c.3848A= (p.Lys1283=)
c.3908A= (p.Lys1303=)
c.3458A= (p.Lys1153=)
c.1760A= (p.Lys587=)
c.1577A= (p.Lys526=)
c.3809A= (p.Lys1270=)
c.3761A= (p.Lys1254=)
c.3530A= (p.Lys1177=)
c.3431A= (p.Lys1144=)
c.2612A= (p.Lys871=)
n.4163A=
13g.51937353_51937355delinsTTGCA2091553487ATP7Bc.*1592_*1594delinsCAA (n.*1592_*1594delinsCAA)
c.*2686_*2688delinsCAA (n.*2686_*2688delinsCAA)
c.3321_3323delinsCAA (p.Ser1107=)
c.3942_3944delinsCAA (p.Ser1314=)
c.3609_3611delinsCAA (p.Ser1203=)
c.3690_3692delinsCAA (p.Ser1230=)
n.1265_1267delinsCAA
c.3708_3710delinsCAA (p.Ser1236=)
n.4081_4083delinsCAA
n.808_810delinsCAA
c.2877_2879delinsCAA (p.Ser959=)
c.2652_2654delinsCAA (p.Ser884=)
c.3747_3749delinsCAA (p.Ser1249=)
c.1720_1722delinsCAA
c.*1043_*1045delinsCAA (n.*1043_*1045delinsCAA)
n.4686_4688delinsCAA
n.3287_3289delinsCAA
c.3798_3800delinsCAA (p.Ser1266=)
c.3846_3848delinsCAA (p.Ser1282=)
c.3906_3908delinsCAA (p.Ser1302=)
c.3456_3458delinsCAA (p.Ser1152=)
c.1758_1760delinsCAA (p.Ser586=)
c.1575_1577delinsCAA (p.Ser525=)
c.3807_3809delinsCAA (p.Ser1269=)
c.3759_3761delinsCAA (p.Ser1253=)
c.3528_3530delinsCAA (p.Ser1176=)
c.3429_3431delinsCAA (p.Ser1143=)
c.2610_2612delinsCAA (p.Ser870=)
n.4161_4163delinsCAA
13g.51937354T>ACA388021137ATP7Bc.*1593A>T (n.*1593A>T)
c.*2687A>T (n.*2687A>T)
c.3322A>T (p.Lys1108Ter)
c.3943A>T (p.Lys1315Ter)
c.3610A>T (p.Lys1204Ter)
c.3691A>T (p.Lys1231Ter)
n.1266A>T
c.3709A>T (p.Lys1237Ter)
n.4082A>T
n.809A>T
c.2878A>T (p.Lys960Ter)
c.2653A>T (p.Lys885Ter)
c.3748A>T (p.Lys1250Ter)
c.1721A>T
c.*1044A>T (n.*1044A>T)
n.4687A>T
n.3288A>T
c.3799A>T (p.Lys1267Ter)
c.3847A>T (p.Lys1283Ter)
c.3907A>T (p.Lys1303Ter)
c.3457A>T (p.Lys1153Ter)
c.1759A>T (p.Lys587Ter)
c.1576A>T (p.Lys526Ter)
c.3808A>T (p.Lys1270Ter)
c.3760A>T (p.Lys1254Ter)
c.3529A>T (p.Lys1177Ter)
c.3430A>T (p.Lys1144Ter)
c.2611A>T (p.Lys871Ter)
n.4162A>T
13g.51937354T>CCA388021139ATP7Bc.*1593A>G (n.*1593A>G)
c.*2687A>G (n.*2687A>G)
c.3322A>G (p.Lys1108Glu)
c.3943A>G (p.Lys1315Glu)
c.3610A>G (p.Lys1204Glu)
c.3691A>G (p.Lys1231Glu)
n.1266A>G
c.3709A>G (p.Lys1237Glu)
n.4082A>G
n.809A>G
c.2878A>G (p.Lys960Glu)
c.2653A>G (p.Lys885Glu)
c.3748A>G (p.Lys1250Glu)
c.1721A>G
c.*1044A>G (n.*1044A>G)
n.4687A>G
n.3288A>G
c.3799A>G (p.Lys1267Glu)
c.3847A>G (p.Lys1283Glu)
c.3907A>G (p.Lys1303Glu)
c.3457A>G (p.Lys1153Glu)
c.1759A>G (p.Lys587Glu)
c.1576A>G (p.Lys526Glu)
c.3808A>G (p.Lys1270Glu)
c.3760A>G (p.Lys1254Glu)
c.3529A>G (p.Lys1177Glu)
c.3430A>G (p.Lys1144Glu)
c.2611A>G (p.Lys871Glu)
n.4162A>G
13g.51937354T>GCA388021135ATP7Bc.*1593A>C (n.*1593A>C)
c.*2687A>C (n.*2687A>C)
c.3322A>C (p.Lys1108Gln)
c.3943A>C (p.Lys1315Gln)
c.3610A>C (p.Lys1204Gln)
c.3691A>C (p.Lys1231Gln)
n.1266A>C
c.3709A>C (p.Lys1237Gln)
n.4082A>C
n.809A>C
c.2878A>C (p.Lys960Gln)
c.2653A>C (p.Lys885Gln)
c.3748A>C (p.Lys1250Gln)
c.1721A>C
c.*1044A>C (n.*1044A>C)
n.4687A>C
n.3288A>C
c.3799A>C (p.Lys1267Gln)
c.3847A>C (p.Lys1283Gln)
c.3907A>C (p.Lys1303Gln)
c.3457A>C (p.Lys1153Gln)
c.1759A>C (p.Lys587Gln)
c.1576A>C (p.Lys526Gln)
c.3808A>C (p.Lys1270Gln)
c.3760A>C (p.Lys1254Gln)
c.3529A>C (p.Lys1177Gln)
c.3430A>C (p.Lys1144Gln)
c.2611A>C (p.Lys871Gln)
n.4162A>C
13g.51937354_51937355delCA16041662ATP7Bc.*1592_*1593del (n.*1592_*1593del)
c.*2686_*2687del (n.*2686_*2687del)
c.3321_3322del (p.Lys1108GlufsTer17)
c.3942_3943del (p.Lys1315GlufsTer17)
c.3609_3610del (p.Lys1204GlufsTer17)
c.3690_3691del (p.Lys1231GlufsTer17)
n.1265_1266del
c.3708_3709del (p.Lys1237GlufsTer17)
n.4081_4082del
n.808_809del
c.2877_2878del (p.Lys960GlufsTer17)
c.2652_2653del (p.Lys885GlufsTer17)
c.3747_3748del (p.Lys1250GlufsTer17)
c.1720_1721del
c.*1043_*1044del (n.*1043_*1044del)
n.4686_4687del
n.3287_3288del
c.3798_3799del (p.Lys1267GlufsTer17)
c.3846_3847del (p.Lys1283GlufsTer17)
c.3906_3907del (p.Lys1303GlufsTer17)
c.3456_3457del (p.Lys1153GlufsTer17)
c.1758_1759del (p.Lys587GlufsTer17)
c.1575_1576del (p.Lys526GlufsTer17)
c.3807_3808del (p.Lys1270GlufsTer17)
c.3759_3760del (p.Lys1254GlufsTer17)
c.3528_3529del (p.Lys1177GlufsTer17)
c.3429_3430del (p.Lys1144GlufsTer17)
c.2610_2611del (p.Lys871GlufsTer17)
n.4161_4162del
 ClinVar dbSNP gnomAD v4
13g.51937355G>ACA484024240ATP7Bc.*1592C>T (n.*1592C>T)
c.*2686C>T (n.*2686C>T)
c.3321C>T (p.Ser1107=)
c.3942C>T (p.Ser1314=)
c.3609C>T (p.Ser1203=)
c.3690C>T (p.Ser1230=)
n.1265C>T
c.3708C>T (p.Ser1236=)
n.4081C>T
n.808C>T
c.2877C>T (p.Ser959=)
c.2652C>T (p.Ser884=)
c.3747C>T (p.Ser1249=)
c.1720C>T
c.*1043C>T (n.*1043C>T)
n.4686C>T
n.3287C>T
c.3798C>T (p.Ser1266=)
c.3846C>T (p.Ser1282=)
c.3906C>T (p.Ser1302=)
c.3456C>T (p.Ser1152=)
c.1758C>T (p.Ser586=)
c.1575C>T (p.Ser525=)
c.3807C>T (p.Ser1269=)
c.3759C>T (p.Ser1253=)
c.3528C>T (p.Ser1176=)
c.3429C>T (p.Ser1143=)
c.2610C>T (p.Ser870=)
n.4161C>T
13g.51937355G>CCA484024241ATP7Bc.*1592C>G (n.*1592C>G)
c.*2686C>G (n.*2686C>G)
c.3321C>G (p.Ser1107=)
c.3942C>G (p.Ser1314=)
c.3609C>G (p.Ser1203=)
c.3690C>G (p.Ser1230=)
n.1265C>G
c.3708C>G (p.Ser1236=)
n.4081C>G
n.808C>G
c.2877C>G (p.Ser959=)
c.2652C>G (p.Ser884=)
c.3747C>G (p.Ser1249=)
c.1720C>G
c.*1043C>G (n.*1043C>G)
n.4686C>G
n.3287C>G
c.3798C>G (p.Ser1266=)
c.3846C>G (p.Ser1282=)
c.3906C>G (p.Ser1302=)
c.3456C>G (p.Ser1152=)
c.1758C>G (p.Ser586=)
c.1575C>G (p.Ser525=)
c.3807C>G (p.Ser1269=)
c.3759C>G (p.Ser1253=)
c.3528C>G (p.Ser1176=)
c.3429C>G (p.Ser1143=)
c.2610C>G (p.Ser870=)
n.4161C>G
13g.51937355G>TCA484024242ATP7Bc.*1592C>A (n.*1592C>A)
c.*2686C>A (n.*2686C>A)
c.3321C>A (p.Ser1107=)
c.3942C>A (p.Ser1314=)
c.3609C>A (p.Ser1203=)
c.3690C>A (p.Ser1230=)
n.1265C>A
c.3708C>A (p.Ser1236=)
n.4081C>A
n.808C>A
c.2877C>A (p.Ser959=)
c.2652C>A (p.Ser884=)
c.3747C>A (p.Ser1249=)
c.1720C>A
c.*1043C>A (n.*1043C>A)
n.4686C>A
n.3287C>A
c.3798C>A (p.Ser1266=)
c.3846C>A (p.Ser1282=)
c.3906C>A (p.Ser1302=)
c.3456C>A (p.Ser1152=)
c.1758C>A (p.Ser586=)
c.1575C>A (p.Ser525=)
c.3807C>A (p.Ser1269=)
c.3759C>A (p.Ser1253=)
c.3528C>A (p.Ser1176=)
c.3429C>A (p.Ser1143=)
c.2610C>A (p.Ser870=)
n.4161C>A
13g.51937356G>ACA388021142ATP7Bc.*1591C>T (n.*1591C>T)
c.*2685C>T (n.*2685C>T)
c.3320C>T (p.Ser1107Phe)
c.3941C>T (p.Ser1314Phe)
c.3608C>T (p.Ser1203Phe)
c.3689C>T (p.Ser1230Phe)
n.1264C>T
c.3707C>T (p.Ser1236Phe)
n.4080C>T
n.807C>T
c.2876C>T (p.Ser959Phe)
c.2651C>T (p.Ser884Phe)
c.3746C>T (p.Ser1249Phe)
c.1719C>T
c.*1042C>T (n.*1042C>T)
n.4685C>T
n.3286C>T
c.3797C>T (p.Ser1266Phe)
c.3845C>T (p.Ser1282Phe)
c.3905C>T (p.Ser1302Phe)
c.3455C>T (p.Ser1152Phe)
c.1757C>T (p.Ser586Phe)
c.1574C>T (p.Ser525Phe)
c.3806C>T (p.Ser1269Phe)
c.3758C>T (p.Ser1253Phe)
c.3527C>T (p.Ser1176Phe)
c.3428C>T (p.Ser1143Phe)
c.2609C>T (p.Ser870Phe)
n.4160C>T
 ClinVar dbSNP
13g.51937356G>CCA388021140ATP7Bc.*1591C>G (n.*1591C>G)
c.*2685C>G (n.*2685C>G)
c.3320C>G (p.Ser1107Cys)
c.3941C>G (p.Ser1314Cys)
c.3608C>G (p.Ser1203Cys)
c.3689C>G (p.Ser1230Cys)
n.1264C>G
c.3707C>G (p.Ser1236Cys)
n.4080C>G
n.807C>G
c.2876C>G (p.Ser959Cys)
c.2651C>G (p.Ser884Cys)
c.3746C>G (p.Ser1249Cys)
c.1719C>G
c.*1042C>G (n.*1042C>G)
n.4685C>G
n.3286C>G
c.3797C>G (p.Ser1266Cys)
c.3845C>G (p.Ser1282Cys)
c.3905C>G (p.Ser1302Cys)
c.3455C>G (p.Ser1152Cys)
c.1757C>G (p.Ser586Cys)
c.1574C>G (p.Ser525Cys)
c.3806C>G (p.Ser1269Cys)
c.3758C>G (p.Ser1253Cys)
c.3527C>G (p.Ser1176Cys)
c.3428C>G (p.Ser1143Cys)
c.2609C>G (p.Ser870Cys)
n.4160C>G
13g.51937356G=CA2091553495ATP7Bc.*1591C= (n.*1591C=)
c.*2685C= (n.*2685C=)
c.3320C= (p.Ser1107=)
c.3941C= (p.Ser1314=)
c.3608C= (p.Ser1203=)
c.3689C= (p.Ser1230=)
n.1264C=
c.3707C= (p.Ser1236=)
n.4080C=
n.807C=
c.2876C= (p.Ser959=)
c.2651C= (p.Ser884=)
c.3746C= (p.Ser1249=)
c.1719C=
c.*1042C= (n.*1042C=)
n.4685C=
n.3286C=
c.3797C= (p.Ser1266=)
c.3845C= (p.Ser1282=)
c.3905C= (p.Ser1302=)
c.3455C= (p.Ser1152=)
c.1757C= (p.Ser586=)
c.1574C= (p.Ser525=)
c.3806C= (p.Ser1269=)
c.3758C= (p.Ser1253=)
c.3527C= (p.Ser1176=)
c.3428C= (p.Ser1143=)
c.2609C= (p.Ser870=)
n.4160C=
13g.51937356G>TCA388021143ATP7Bc.*1591C>A (n.*1591C>A)
c.*2685C>A (n.*2685C>A)
c.3320C>A (p.Ser1107Tyr)
c.3941C>A (p.Ser1314Tyr)
c.3608C>A (p.Ser1203Tyr)
c.3689C>A (p.Ser1230Tyr)
n.1264C>A
c.3707C>A (p.Ser1236Tyr)
n.4080C>A
n.807C>A
c.2876C>A (p.Ser959Tyr)
c.2651C>A (p.Ser884Tyr)
c.3746C>A (p.Ser1249Tyr)
c.1719C>A
c.*1042C>A (n.*1042C>A)
n.4685C>A
n.3286C>A
c.3797C>A (p.Ser1266Tyr)
c.3845C>A (p.Ser1282Tyr)
c.3905C>A (p.Ser1302Tyr)
c.3455C>A (p.Ser1152Tyr)
c.1757C>A (p.Ser586Tyr)
c.1574C>A (p.Ser525Tyr)
c.3806C>A (p.Ser1269Tyr)
c.3758C>A (p.Ser1253Tyr)
c.3527C>A (p.Ser1176Tyr)
c.3428C>A (p.Ser1143Tyr)
c.2609C>A (p.Ser870Tyr)
n.4160C>A
13g.51937357A>CCA388021145ATP7Bc.*1590T>G (n.*1590T>G)
c.*2684T>G (n.*2684T>G)
c.3319T>G (p.Ser1107Ala)
c.3940T>G (p.Ser1314Ala)
c.3607T>G (p.Ser1203Ala)
c.3688T>G (p.Ser1230Ala)
n.1263T>G
c.3706T>G (p.Ser1236Ala)
n.4079T>G
n.806T>G
c.2875T>G (p.Ser959Ala)
c.2650T>G (p.Ser884Ala)
c.3745T>G (p.Ser1249Ala)
c.1718T>G
c.*1041T>G (n.*1041T>G)
n.4684T>G
n.3285T>G
c.3796T>G (p.Ser1266Ala)
c.3844T>G (p.Ser1282Ala)
c.3904T>G (p.Ser1302Ala)
c.3454T>G (p.Ser1152Ala)
c.1756T>G (p.Ser586Ala)
c.1573T>G (p.Ser525Ala)
c.3805T>G (p.Ser1269Ala)
c.3757T>G (p.Ser1253Ala)
c.3526T>G (p.Ser1176Ala)
c.3427T>G (p.Ser1143Ala)
c.2608T>G (p.Ser870Ala)
n.4159T>G
13g.51937357A>GCA388021147ATP7Bc.*1590T>C (n.*1590T>C)
c.*2684T>C (n.*2684T>C)
c.3319T>C (p.Ser1107Pro)
c.3940T>C (p.Ser1314Pro)
c.3607T>C (p.Ser1203Pro)
c.3688T>C (p.Ser1230Pro)
n.1263T>C
c.3706T>C (p.Ser1236Pro)
n.4079T>C
n.806T>C
c.2875T>C (p.Ser959Pro)
c.2650T>C (p.Ser884Pro)
c.3745T>C (p.Ser1249Pro)
c.1718T>C
c.*1041T>C (n.*1041T>C)
n.4684T>C
n.3285T>C
c.3796T>C (p.Ser1266Pro)
c.3844T>C (p.Ser1282Pro)
c.3904T>C (p.Ser1302Pro)
c.3454T>C (p.Ser1152Pro)
c.1756T>C (p.Ser586Pro)
c.1573T>C (p.Ser525Pro)
c.3805T>C (p.Ser1269Pro)
c.3757T>C (p.Ser1253Pro)
c.3526T>C (p.Ser1176Pro)
c.3427T>C (p.Ser1143Pro)
c.2608T>C (p.Ser870Pro)
n.4159T>C
13g.51937357A>TCA388021149ATP7Bc.*1590T>A (n.*1590T>A)
c.*2684T>A (n.*2684T>A)
c.3319T>A (p.Ser1107Thr)
c.3940T>A (p.Ser1314Thr)
c.3607T>A (p.Ser1203Thr)
c.3688T>A (p.Ser1230Thr)
n.1263T>A
c.3706T>A (p.Ser1236Thr)
n.4079T>A
n.806T>A
c.2875T>A (p.Ser959Thr)
c.2650T>A (p.Ser884Thr)
c.3745T>A (p.Ser1249Thr)
c.1718T>A
c.*1041T>A (n.*1041T>A)
n.4684T>A
n.3285T>A
c.3796T>A (p.Ser1266Thr)
c.3844T>A (p.Ser1282Thr)
c.3904T>A (p.Ser1302Thr)
c.3454T>A (p.Ser1152Thr)
c.1756T>A (p.Ser586Thr)
c.1573T>A (p.Ser525Thr)
c.3805T>A (p.Ser1269Thr)
c.3757T>A (p.Ser1253Thr)
c.3526T>A (p.Ser1176Thr)
c.3427T>A (p.Ser1143Thr)
c.2608T>A (p.Ser870Thr)
n.4159T>A
13g.51937358A=CA2091553499ATP7Bc.*1589T= (n.*1589T=)
c.*2683T= (n.*2683T=)
c.3318T= (p.Leu1106=)
c.3939T= (p.Leu1313=)
c.3606T= (p.Leu1202=)
c.3687T= (p.Leu1229=)
n.1262T=
c.3705T= (p.Leu1235=)
n.4078T=
n.805T=
c.2874T= (p.Leu958=)
c.2649T= (p.Leu883=)
c.3744T= (p.Leu1248=)
c.1717T=
c.*1040T= (n.*1040T=)
n.4683T=
n.3284T=
c.3795T= (p.Leu1265=)
c.3843T= (p.Leu1281=)
c.3903T= (p.Leu1301=)
c.3453T= (p.Leu1151=)
c.1755T= (p.Leu585=)
c.1572T= (p.Leu524=)
c.3804T= (p.Leu1268=)
c.3756T= (p.Leu1252=)
c.3525T= (p.Leu1175=)
c.3426T= (p.Leu1142=)
c.2607T= (p.Leu869=)
n.4158T=
13g.51937358A>CCA484024243ATP7Bc.*1589T>G (n.*1589T>G)
c.*2683T>G (n.*2683T>G)
c.3318T>G (p.Leu1106=)
c.3939T>G (p.Leu1313=)
c.3606T>G (p.Leu1202=)
c.3687T>G (p.Leu1229=)
n.1262T>G
c.3705T>G (p.Leu1235=)
n.4078T>G
n.805T>G
c.2874T>G (p.Leu958=)
c.2649T>G (p.Leu883=)
c.3744T>G (p.Leu1248=)
c.1717T>G
c.*1040T>G (n.*1040T>G)
n.4683T>G
n.3284T>G
c.3795T>G (p.Leu1265=)
c.3843T>G (p.Leu1281=)
c.3903T>G (p.Leu1301=)
c.3453T>G (p.Leu1151=)
c.1755T>G (p.Leu585=)
c.1572T>G (p.Leu524=)
c.3804T>G (p.Leu1268=)
c.3756T>G (p.Leu1252=)
c.3525T>G (p.Leu1175=)
c.3426T>G (p.Leu1142=)
c.2607T>G (p.Leu869=)
n.4158T>G
 gnomAD v4
13g.51937358A>GCA250073397ATP7Bc.*1589T>C (n.*1589T>C)
c.*2683T>C (n.*2683T>C)
c.3318T>C (p.Leu1106=)
c.3939T>C (p.Leu1313=)
c.3606T>C (p.Leu1202=)
c.3687T>C (p.Leu1229=)
n.1262T>C
c.3705T>C (p.Leu1235=)
n.4078T>C
n.805T>C
c.2874T>C (p.Leu958=)
c.2649T>C (p.Leu883=)
c.3744T>C (p.Leu1248=)
c.1717T>C
c.*1040T>C (n.*1040T>C)
n.4683T>C
n.3284T>C
c.3795T>C (p.Leu1265=)
c.3843T>C (p.Leu1281=)
c.3903T>C (p.Leu1301=)
c.3453T>C (p.Leu1151=)
c.1755T>C (p.Leu585=)
c.1572T>C (p.Leu524=)
c.3804T>C (p.Leu1268=)
c.3756T>C (p.Leu1252=)
c.3525T>C (p.Leu1175=)
c.3426T>C (p.Leu1142=)
c.2607T>C (p.Leu869=)
n.4158T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51937358A>TCA484024244ATP7Bc.*1589T>A (n.*1589T>A)
c.*2683T>A (n.*2683T>A)
c.3318T>A (p.Leu1106=)
c.3939T>A (p.Leu1313=)
c.3606T>A (p.Leu1202=)
c.3687T>A (p.Leu1229=)
n.1262T>A
c.3705T>A (p.Leu1235=)
n.4078T>A
n.805T>A
c.2874T>A (p.Leu958=)
c.2649T>A (p.Leu883=)
c.3744T>A (p.Leu1248=)
c.1717T>A
c.*1040T>A (n.*1040T>A)
n.4683T>A
n.3284T>A
c.3795T>A (p.Leu1265=)
c.3843T>A (p.Leu1281=)
c.3903T>A (p.Leu1301=)
c.3453T>A (p.Leu1151=)
c.1755T>A (p.Leu585=)
c.1572T>A (p.Leu524=)
c.3804T>A (p.Leu1268=)
c.3756T>A (p.Leu1252=)
c.3525T>A (p.Leu1175=)
c.3426T>A (p.Leu1142=)
c.2607T>A (p.Leu869=)
n.4158T>A
13g.51937359A>CCA388021150ATP7Bc.*1588T>G (n.*1588T>G)
c.*2682T>G (n.*2682T>G)
c.3317T>G (p.Leu1106Arg)
c.3938T>G (p.Leu1313Arg)
c.3605T>G (p.Leu1202Arg)
c.3686T>G (p.Leu1229Arg)
n.1261T>G
c.3704T>G (p.Leu1235Arg)
n.4077T>G
n.804T>G
c.2873T>G (p.Leu958Arg)
c.2648T>G (p.Leu883Arg)
c.3743T>G (p.Leu1248Arg)
c.1716T>G
c.*1039T>G (n.*1039T>G)
n.4682T>G
n.3283T>G
c.3794T>G (p.Leu1265Arg)
c.3842T>G (p.Leu1281Arg)
c.3902T>G (p.Leu1301Arg)
c.3452T>G (p.Leu1151Arg)
c.1754T>G (p.Leu585Arg)
c.1571T>G (p.Leu524Arg)
c.3803T>G (p.Leu1268Arg)
c.3755T>G (p.Leu1252Arg)
c.3524T>G (p.Leu1175Arg)
c.3425T>G (p.Leu1142Arg)
c.2606T>G (p.Leu869Arg)
n.4157T>G
 gnomAD v4
13g.51937359A>GCA388021152ATP7Bc.*1588T>C (n.*1588T>C)
c.*2682T>C (n.*2682T>C)
c.3317T>C (p.Leu1106Pro)
c.3938T>C (p.Leu1313Pro)
c.3605T>C (p.Leu1202Pro)
c.3686T>C (p.Leu1229Pro)
n.1261T>C
c.3704T>C (p.Leu1235Pro)
n.4077T>C
n.804T>C
c.2873T>C (p.Leu958Pro)
c.2648T>C (p.Leu883Pro)
c.3743T>C (p.Leu1248Pro)
c.1716T>C
c.*1039T>C (n.*1039T>C)
n.4682T>C
n.3283T>C
c.3794T>C (p.Leu1265Pro)
c.3842T>C (p.Leu1281Pro)
c.3902T>C (p.Leu1301Pro)
c.3452T>C (p.Leu1151Pro)
c.1754T>C (p.Leu585Pro)
c.1571T>C (p.Leu524Pro)
c.3803T>C (p.Leu1268Pro)
c.3755T>C (p.Leu1252Pro)
c.3524T>C (p.Leu1175Pro)
c.3425T>C (p.Leu1142Pro)
c.2606T>C (p.Leu869Pro)
n.4157T>C
 ClinVar gnomAD v4
13g.51937359A>TCA388021154ATP7Bc.*1588T>A (n.*1588T>A)
c.*2682T>A (n.*2682T>A)
c.3317T>A (p.Leu1106His)
c.3938T>A (p.Leu1313His)
c.3605T>A (p.Leu1202His)
c.3686T>A (p.Leu1229His)
n.1261T>A
c.3704T>A (p.Leu1235His)
n.4077T>A
n.804T>A
c.2873T>A (p.Leu958His)
c.2648T>A (p.Leu883His)
c.3743T>A (p.Leu1248His)
c.1716T>A
c.*1039T>A (n.*1039T>A)
n.4682T>A
n.3283T>A
c.3794T>A (p.Leu1265His)
c.3842T>A (p.Leu1281His)
c.3902T>A (p.Leu1301His)
c.3452T>A (p.Leu1151His)
c.1754T>A (p.Leu585His)
c.1571T>A (p.Leu524His)
c.3803T>A (p.Leu1268His)
c.3755T>A (p.Leu1252His)
c.3524T>A (p.Leu1175His)
c.3425T>A (p.Leu1142His)
c.2606T>A (p.Leu869His)
n.4157T>A
13g.51937360G>ACA388021156ATP7Bc.*1587C>T (n.*1587C>T)
c.*2681C>T (n.*2681C>T)
c.3316C>T (p.Leu1106Phe)
c.3937C>T (p.Leu1313Phe)
c.3604C>T (p.Leu1202Phe)
c.3685C>T (p.Leu1229Phe)
n.1260C>T
c.3703C>T (p.Leu1235Phe)
n.4076C>T
n.803C>T
c.2872C>T (p.Leu958Phe)
c.2647C>T (p.Leu883Phe)
c.3742C>T (p.Leu1248Phe)
c.1715C>T
c.*1038C>T (n.*1038C>T)
n.4681C>T
n.3282C>T
c.3793C>T (p.Leu1265Phe)
c.3841C>T (p.Leu1281Phe)
c.3901C>T (p.Leu1301Phe)
c.3451C>T (p.Leu1151Phe)
c.1753C>T (p.Leu585Phe)
c.1570C>T (p.Leu524Phe)
c.3802C>T (p.Leu1268Phe)
c.3754C>T (p.Leu1252Phe)
c.3523C>T (p.Leu1175Phe)
c.3424C>T (p.Leu1142Phe)
c.2605C>T (p.Leu869Phe)
n.4156C>T
13g.51937360G>CCA388021157ATP7Bc.*1587C>G (n.*1587C>G)
c.*2681C>G (n.*2681C>G)
c.3316C>G (p.Leu1106Val)
c.3937C>G (p.Leu1313Val)
c.3604C>G (p.Leu1202Val)
c.3685C>G (p.Leu1229Val)
n.1260C>G
c.3703C>G (p.Leu1235Val)
n.4076C>G
n.803C>G
c.2872C>G (p.Leu958Val)
c.2647C>G (p.Leu883Val)
c.3742C>G (p.Leu1248Val)
c.1715C>G
c.*1038C>G (n.*1038C>G)
n.4681C>G
n.3282C>G
c.3793C>G (p.Leu1265Val)
c.3841C>G (p.Leu1281Val)
c.3901C>G (p.Leu1301Val)
c.3451C>G (p.Leu1151Val)
c.1753C>G (p.Leu585Val)
c.1570C>G (p.Leu524Val)
c.3802C>G (p.Leu1268Val)
c.3754C>G (p.Leu1252Val)
c.3523C>G (p.Leu1175Val)
c.3424C>G (p.Leu1142Val)
c.2605C>G (p.Leu869Val)
n.4156C>G
13g.51937360G>TCA388021158ATP7Bc.*1587C>A (n.*1587C>A)
c.*2681C>A (n.*2681C>A)
c.3316C>A (p.Leu1106Ile)
c.3937C>A (p.Leu1313Ile)
c.3604C>A (p.Leu1202Ile)
c.3685C>A (p.Leu1229Ile)
n.1260C>A
c.3703C>A (p.Leu1235Ile)
n.4076C>A
n.803C>A
c.2872C>A (p.Leu958Ile)
c.2647C>A (p.Leu883Ile)
c.3742C>A (p.Leu1248Ile)
c.1715C>A
c.*1038C>A (n.*1038C>A)
n.4681C>A
n.3282C>A
c.3793C>A (p.Leu1265Ile)
c.3841C>A (p.Leu1281Ile)
c.3901C>A (p.Leu1301Ile)
c.3451C>A (p.Leu1151Ile)
c.1753C>A (p.Leu585Ile)
c.1570C>A (p.Leu524Ile)
c.3802C>A (p.Leu1268Ile)
c.3754C>A (p.Leu1252Ile)
c.3523C>A (p.Leu1175Ile)
c.3424C>A (p.Leu1142Ile)
c.2605C>A (p.Leu869Ile)
n.4156C>A
13g.51937361G>ACA484024245ATP7Bc.*1586C>T (n.*1586C>T)
c.*2680C>T (n.*2680C>T)
c.3315C>T (p.His1105=)
c.3936C>T (p.His1312=)
c.3603C>T (p.His1201=)
c.3684C>T (p.His1228=)
n.1259C>T
c.3702C>T (p.His1234=)
n.4075C>T
n.802C>T
c.2871C>T (p.His957=)
c.2646C>T (p.His882=)
c.3741C>T (p.His1247=)
c.1714C>T
c.*1037C>T (n.*1037C>T)
n.4680C>T
n.3281C>T
c.3792C>T (p.His1264=)
c.3840C>T (p.His1280=)
c.3900C>T (p.His1300=)
c.3450C>T (p.His1150=)
c.1752C>T (p.His584=)
c.1569C>T (p.His523=)
c.3801C>T (p.His1267=)
c.3753C>T (p.His1251=)
c.3522C>T (p.His1174=)
c.3423C>T (p.His1141=)
c.2604C>T (p.His868=)
n.4155C>T
 ClinVar dbSNP gnomAD v4
13g.51937361G>CCA388021160ATP7Bc.*1586C>G (n.*1586C>G)
c.*2680C>G (n.*2680C>G)
c.3315C>G (p.His1105Gln)
c.3936C>G (p.His1312Gln)
c.3603C>G (p.His1201Gln)
c.3684C>G (p.His1228Gln)
n.1259C>G
c.3702C>G (p.His1234Gln)
n.4075C>G
n.802C>G
c.2871C>G (p.His957Gln)
c.2646C>G (p.His882Gln)
c.3741C>G (p.His1247Gln)
c.1714C>G
c.*1037C>G (n.*1037C>G)
n.4680C>G
n.3281C>G
c.3792C>G (p.His1264Gln)
c.3840C>G (p.His1280Gln)
c.3900C>G (p.His1300Gln)
c.3450C>G (p.His1150Gln)
c.1752C>G (p.His584Gln)
c.1569C>G (p.His523Gln)
c.3801C>G (p.His1267Gln)
c.3753C>G (p.His1251Gln)
c.3522C>G (p.His1174Gln)
c.3423C>G (p.His1141Gln)
c.2604C>G (p.His868Gln)
n.4155C>G
 gnomAD v4
13g.51937361G=CA2091553504ATP7Bc.*1586C= (n.*1586C=)
c.*2680C= (n.*2680C=)
c.3315C= (p.His1105=)
c.3936C= (p.His1312=)
c.3603C= (p.His1201=)
c.3684C= (p.His1228=)
n.1259C=
c.3702C= (p.His1234=)
n.4075C=
n.802C=
c.2871C= (p.His957=)
c.2646C= (p.His882=)
c.3741C= (p.His1247=)
c.1714C=
c.*1037C= (n.*1037C=)
n.4680C=
n.3281C=
c.3792C= (p.His1264=)
c.3840C= (p.His1280=)
c.3900C= (p.His1300=)
c.3450C= (p.His1150=)
c.1752C= (p.His584=)
c.1569C= (p.His523=)
c.3801C= (p.His1267=)
c.3753C= (p.His1251=)
c.3522C= (p.His1174=)
c.3423C= (p.His1141=)
c.2604C= (p.His868=)
n.4155C=
13g.51937361G>TCA388021161ATP7Bc.*1586C>A (n.*1586C>A)
c.*2680C>A (n.*2680C>A)
c.3315C>A (p.His1105Gln)
c.3936C>A (p.His1312Gln)
c.3603C>A (p.His1201Gln)
c.3684C>A (p.His1228Gln)
n.1259C>A
c.3702C>A (p.His1234Gln)
n.4075C>A
n.802C>A
c.2871C>A (p.His957Gln)
c.2646C>A (p.His882Gln)
c.3741C>A (p.His1247Gln)
c.1714C>A
c.*1037C>A (n.*1037C>A)
n.4680C>A
n.3281C>A
c.3792C>A (p.His1264Gln)
c.3840C>A (p.His1280Gln)
c.3900C>A (p.His1300Gln)
c.3450C>A (p.His1150Gln)
c.1752C>A (p.His584Gln)
c.1569C>A (p.His523Gln)
c.3801C>A (p.His1267Gln)
c.3753C>A (p.His1251Gln)
c.3522C>A (p.His1174Gln)
c.3423C>A (p.His1141Gln)
c.2604C>A (p.His868Gln)
n.4155C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51937362_51937363delCA2580087700ATP7Bc.*1585_*1586del (n.*1585_*1586del)
c.*2679_*2680del (n.*2679_*2680del)
c.3314_3315del (p.His1105ProfsTer20)
c.3935_3936del (p.His1312ProfsTer20)
c.3602_3603del (p.His1201ProfsTer20)
c.3683_3684del (p.His1228ProfsTer20)
n.1258_1259del
c.3701_3702del (p.His1234ProfsTer20)
n.4074_4075del
n.801_802del
c.2870_2871del (p.His957ProfsTer20)
c.2645_2646del (p.His882ProfsTer20)
c.3740_3741del (p.His1247ProfsTer20)
c.1713_1714del
c.*1036_*1037del (n.*1036_*1037del)
n.4679_4680del
n.3280_3281del
c.3791_3792del (p.His1264ProfsTer20)
c.3839_3840del (p.His1280ProfsTer20)
c.3899_3900del (p.His1300ProfsTer20)
c.3449_3450del (p.His1150ProfsTer20)
c.1751_1752del (p.His584ProfsTer20)
c.1568_1569del (p.His523ProfsTer20)
c.3800_3801del (p.His1267ProfsTer20)
c.3752_3753del (p.His1251ProfsTer20)
c.3521_3522del (p.His1174ProfsTer20)
c.3422_3423del (p.His1141ProfsTer20)
c.2603_2604del (p.His868ProfsTer20)
n.4154_4155del
 ClinVar
13g.51937362T>ACA388021167ATP7Bc.*1585A>T (n.*1585A>T)
c.*2679A>T (n.*2679A>T)
c.3314A>T (p.His1105Leu)
c.3935A>T (p.His1312Leu)
c.3602A>T (p.His1201Leu)
c.3683A>T (p.His1228Leu)
n.1258A>T
c.3701A>T (p.His1234Leu)
n.4074A>T
n.801A>T
c.2870A>T (p.His957Leu)
c.2645A>T (p.His882Leu)
c.3740A>T (p.His1247Leu)
c.1713A>T
c.*1036A>T (n.*1036A>T)
n.4679A>T
n.3280A>T
c.3791A>T (p.His1264Leu)
c.3839A>T (p.His1280Leu)
c.3899A>T (p.His1300Leu)
c.3449A>T (p.His1150Leu)
c.1751A>T (p.His584Leu)
c.1568A>T (p.His523Leu)
c.3800A>T (p.His1267Leu)
c.3752A>T (p.His1251Leu)
c.3521A>T (p.His1174Leu)
c.3422A>T (p.His1141Leu)
c.2603A>T (p.His868Leu)
n.4154A>T
13g.51937362T>CCA388021165ATP7Bc.*1585A>G (n.*1585A>G)
c.*2679A>G (n.*2679A>G)
c.3314A>G (p.His1105Arg)
c.3935A>G (p.His1312Arg)
c.3602A>G (p.His1201Arg)
c.3683A>G (p.His1228Arg)
n.1258A>G
c.3701A>G (p.His1234Arg)
n.4074A>G
n.801A>G
c.2870A>G (p.His957Arg)
c.2645A>G (p.His882Arg)
c.3740A>G (p.His1247Arg)
c.1713A>G
c.*1036A>G (n.*1036A>G)
n.4679A>G
n.3280A>G
c.3791A>G (p.His1264Arg)
c.3839A>G (p.His1280Arg)
c.3899A>G (p.His1300Arg)
c.3449A>G (p.His1150Arg)
c.1751A>G (p.His584Arg)
c.1568A>G (p.His523Arg)
c.3800A>G (p.His1267Arg)
c.3752A>G (p.His1251Arg)
c.3521A>G (p.His1174Arg)
c.3422A>G (p.His1141Arg)
c.2603A>G (p.His868Arg)
n.4154A>G
13g.51937362T>GCA388021163ATP7Bc.*1585A>C (n.*1585A>C)
c.*2679A>C (n.*2679A>C)
c.3314A>C (p.His1105Pro)
c.3935A>C (p.His1312Pro)
c.3602A>C (p.His1201Pro)
c.3683A>C (p.His1228Pro)
n.1258A>C
c.3701A>C (p.His1234Pro)
n.4074A>C
n.801A>C
c.2870A>C (p.His957Pro)
c.2645A>C (p.His882Pro)
c.3740A>C (p.His1247Pro)
c.1713A>C
c.*1036A>C (n.*1036A>C)
n.4679A>C
n.3280A>C
c.3791A>C (p.His1264Pro)
c.3839A>C (p.His1280Pro)
c.3899A>C (p.His1300Pro)
c.3449A>C (p.His1150Pro)
c.1751A>C (p.His584Pro)
c.1568A>C (p.His523Pro)
c.3800A>C (p.His1267Pro)
c.3752A>C (p.His1251Pro)
c.3521A>C (p.His1174Pro)
c.3422A>C (p.His1141Pro)
c.2603A>C (p.His868Pro)
n.4154A>C
13g.51937363G>ACA388021168ATP7Bc.*1584C>T (n.*1584C>T)
c.*2678C>T (n.*2678C>T)
c.3313C>T (p.His1105Tyr)
c.3934C>T (p.His1312Tyr)
c.3601C>T (p.His1201Tyr)
c.3682C>T (p.His1228Tyr)
n.1257C>T
c.3700C>T (p.His1234Tyr)
n.4073C>T
n.800C>T
c.2869C>T (p.His957Tyr)
c.2644C>T (p.His882Tyr)
c.3739C>T (p.His1247Tyr)
c.1712C>T
c.*1035C>T (n.*1035C>T)
n.4678C>T
n.3279C>T
c.3790C>T (p.His1264Tyr)
c.3838C>T (p.His1280Tyr)
c.3898C>T (p.His1300Tyr)
c.3448C>T (p.His1150Tyr)
c.1750C>T (p.His584Tyr)
c.1567C>T (p.His523Tyr)
c.3799C>T (p.His1267Tyr)
c.3751C>T (p.His1251Tyr)
c.3520C>T (p.His1174Tyr)
c.3421C>T (p.His1141Tyr)
c.2602C>T (p.His868Tyr)
n.4153C>T
13g.51937363G>CCA388021170ATP7Bc.*1584C>G (n.*1584C>G)
c.*2678C>G (n.*2678C>G)
c.3313C>G (p.His1105Asp)
c.3934C>G (p.His1312Asp)
c.3601C>G (p.His1201Asp)
c.3682C>G (p.His1228Asp)
n.1257C>G
c.3700C>G (p.His1234Asp)
n.4073C>G
n.800C>G
c.2869C>G (p.His957Asp)
c.2644C>G (p.His882Asp)
c.3739C>G (p.His1247Asp)
c.1712C>G
c.*1035C>G (n.*1035C>G)
n.4678C>G
n.3279C>G
c.3790C>G (p.His1264Asp)
c.3838C>G (p.His1280Asp)
c.3898C>G (p.His1300Asp)
c.3448C>G (p.His1150Asp)
c.1750C>G (p.His584Asp)
c.1567C>G (p.His523Asp)
c.3799C>G (p.His1267Asp)
c.3751C>G (p.His1251Asp)
c.3520C>G (p.His1174Asp)
c.3421C>G (p.His1141Asp)
c.2602C>G (p.His868Asp)
n.4153C>G
13g.51937363G>TCA388021171ATP7Bc.*1584C>A (n.*1584C>A)
c.*2678C>A (n.*2678C>A)
c.3313C>A (p.His1105Asn)
c.3934C>A (p.His1312Asn)
c.3601C>A (p.His1201Asn)
c.3682C>A (p.His1228Asn)
n.1257C>A
c.3700C>A (p.His1234Asn)
n.4073C>A
n.800C>A
c.2869C>A (p.His957Asn)
c.2644C>A (p.His882Asn)
c.3739C>A (p.His1247Asn)
c.1712C>A
c.*1035C>A (n.*1035C>A)
n.4678C>A
n.3279C>A
c.3790C>A (p.His1264Asn)
c.3838C>A (p.His1280Asn)
c.3898C>A (p.His1300Asn)
c.3448C>A (p.His1150Asn)
c.1750C>A (p.His584Asn)
c.1567C>A (p.His523Asn)
c.3799C>A (p.His1267Asn)
c.3751C>A (p.His1251Asn)
c.3520C>A (p.His1174Asn)
c.3421C>A (p.His1141Asn)
c.2602C>A (p.His868Asn)
n.4153C>A
 gnomAD v4
13g.51937364A>CCA388021172ATP7Bc.*1583T>G (n.*1583T>G)
c.*2677T>G (n.*2677T>G)
c.3312T>G (p.Ile1104Met)
c.3933T>G (p.Ile1311Met)
c.3600T>G (p.Ile1200Met)
c.3681T>G (p.Ile1227Met)
n.1256T>G
c.3699T>G (p.Ile1233Met)
n.4072T>G
n.799T>G
c.2868T>G (p.Ile956Met)
c.2643T>G (p.Ile881Met)
c.3738T>G (p.Ile1246Met)
c.1711T>G
c.*1034T>G (n.*1034T>G)
n.4677T>G
n.3278T>G
c.3789T>G (p.Ile1263Met)
c.3837T>G (p.Ile1279Met)
c.3897T>G (p.Ile1299Met)
c.3447T>G (p.Ile1149Met)
c.1749T>G (p.Ile583Met)
c.1566T>G (p.Ile522Met)
c.3798T>G (p.Ile1266Met)
c.3750T>G (p.Ile1250Met)
c.3519T>G (p.Ile1173Met)
c.3420T>G (p.Ile1140Met)
c.2601T>G (p.Ile867Met)
n.4152T>G
13g.51937364A>GCA484024246ATP7Bc.*1583T>C (n.*1583T>C)
c.*2677T>C (n.*2677T>C)
c.3312T>C (p.Ile1104=)
c.3933T>C (p.Ile1311=)
c.3600T>C (p.Ile1200=)
c.3681T>C (p.Ile1227=)
n.1256T>C
c.3699T>C (p.Ile1233=)
n.4072T>C
n.799T>C
c.2868T>C (p.Ile956=)
c.2643T>C (p.Ile881=)
c.3738T>C (p.Ile1246=)
c.1711T>C
c.*1034T>C (n.*1034T>C)
n.4677T>C
n.3278T>C
c.3789T>C (p.Ile1263=)
c.3837T>C (p.Ile1279=)
c.3897T>C (p.Ile1299=)
c.3447T>C (p.Ile1149=)
c.1749T>C (p.Ile583=)
c.1566T>C (p.Ile522=)
c.3798T>C (p.Ile1266=)
c.3750T>C (p.Ile1250=)
c.3519T>C (p.Ile1173=)
c.3420T>C (p.Ile1140=)
c.2601T>C (p.Ile867=)
n.4152T>C
 gnomAD v4
13g.51937364A>TCA484024247ATP7Bc.*1583T>A (n.*1583T>A)
c.*2677T>A (n.*2677T>A)
c.3312T>A (p.Ile1104=)
c.3933T>A (p.Ile1311=)
c.3600T>A (p.Ile1200=)
c.3681T>A (p.Ile1227=)
n.1256T>A
c.3699T>A (p.Ile1233=)
n.4072T>A
n.799T>A
c.2868T>A (p.Ile956=)
c.2643T>A (p.Ile881=)
c.3738T>A (p.Ile1246=)
c.1711T>A
c.*1034T>A (n.*1034T>A)
n.4677T>A
n.3278T>A
c.3789T>A (p.Ile1263=)
c.3837T>A (p.Ile1279=)
c.3897T>A (p.Ile1299=)
c.3447T>A (p.Ile1149=)
c.1749T>A (p.Ile583=)
c.1566T>A (p.Ile522=)
c.3798T>A (p.Ile1266=)
c.3750T>A (p.Ile1250=)
c.3519T>A (p.Ile1173=)
c.3420T>A (p.Ile1140=)
c.2601T>A (p.Ile867=)
n.4152T>A
13g.51937365A>CCA388021174ATP7Bc.*1582T>G (n.*1582T>G)
c.*2676T>G (n.*2676T>G)
c.3311T>G (p.Ile1104Ser)
c.3932T>G (p.Ile1311Ser)
c.3599T>G (p.Ile1200Ser)
c.3680T>G (p.Ile1227Ser)
n.1255T>G
c.3698T>G (p.Ile1233Ser)
n.4071T>G
n.798T>G
c.2867T>G (p.Ile956Ser)
c.2642T>G (p.Ile881Ser)
c.3737T>G (p.Ile1246Ser)
c.1710T>G
c.*1033T>G (n.*1033T>G)
n.4676T>G
n.3277T>G
c.3788T>G (p.Ile1263Ser)
c.3836T>G (p.Ile1279Ser)
c.3896T>G (p.Ile1299Ser)
c.3446T>G (p.Ile1149Ser)
c.1748T>G (p.Ile583Ser)
c.1565T>G (p.Ile522Ser)
c.3797T>G (p.Ile1266Ser)
c.3749T>G (p.Ile1250Ser)
c.3518T>G (p.Ile1173Ser)
c.3419T>G (p.Ile1140Ser)
c.2600T>G (p.Ile867Ser)
n.4151T>G
 ClinVar dbSNP
13g.51937365A>GCA388021175ATP7Bc.*1582T>C (n.*1582T>C)
c.*2676T>C (n.*2676T>C)
c.3311T>C (p.Ile1104Thr)
c.3932T>C (p.Ile1311Thr)
c.3599T>C (p.Ile1200Thr)
c.3680T>C (p.Ile1227Thr)
n.1255T>C
c.3698T>C (p.Ile1233Thr)
n.4071T>C
n.798T>C
c.2867T>C (p.Ile956Thr)
c.2642T>C (p.Ile881Thr)
c.3737T>C (p.Ile1246Thr)
c.1710T>C
c.*1033T>C (n.*1033T>C)
n.4676T>C
n.3277T>C
c.3788T>C (p.Ile1263Thr)
c.3836T>C (p.Ile1279Thr)
c.3896T>C (p.Ile1299Thr)
c.3446T>C (p.Ile1149Thr)
c.1748T>C (p.Ile583Thr)
c.1565T>C (p.Ile522Thr)
c.3797T>C (p.Ile1266Thr)
c.3749T>C (p.Ile1250Thr)
c.3518T>C (p.Ile1173Thr)
c.3419T>C (p.Ile1140Thr)
c.2600T>C (p.Ile867Thr)
n.4151T>C
13g.51937365A>TCA388021176ATP7Bc.*1582T>A (n.*1582T>A)
c.*2676T>A (n.*2676T>A)
c.3311T>A (p.Ile1104Asn)
c.3932T>A (p.Ile1311Asn)
c.3599T>A (p.Ile1200Asn)
c.3680T>A (p.Ile1227Asn)
n.1255T>A
c.3698T>A (p.Ile1233Asn)
n.4071T>A
n.798T>A
c.2867T>A (p.Ile956Asn)
c.2642T>A (p.Ile881Asn)
c.3737T>A (p.Ile1246Asn)
c.1710T>A
c.*1033T>A (n.*1033T>A)
n.4676T>A
n.3277T>A
c.3788T>A (p.Ile1263Asn)
c.3836T>A (p.Ile1279Asn)
c.3896T>A (p.Ile1299Asn)
c.3446T>A (p.Ile1149Asn)
c.1748T>A (p.Ile583Asn)
c.1565T>A (p.Ile522Asn)
c.3797T>A (p.Ile1266Asn)
c.3749T>A (p.Ile1250Asn)
c.3518T>A (p.Ile1173Asn)
c.3419T>A (p.Ile1140Asn)
c.2600T>A (p.Ile867Asn)
n.4151T>A
13g.51937366T>ACA388021178ATP7Bc.*1581A>T (n.*1581A>T)
c.*2675A>T (n.*2675A>T)
c.3310A>T (p.Ile1104Phe)
c.3931A>T (p.Ile1311Phe)
c.3598A>T (p.Ile1200Phe)
c.3679A>T (p.Ile1227Phe)
n.1254A>T
c.3697A>T (p.Ile1233Phe)
n.4070A>T
n.797A>T
c.2866A>T (p.Ile956Phe)
c.2641A>T (p.Ile881Phe)
c.3736A>T (p.Ile1246Phe)
c.1709A>T
c.*1032A>T (n.*1032A>T)
n.4675A>T
n.3276A>T
c.3787A>T (p.Ile1263Phe)
c.3835A>T (p.Ile1279Phe)
c.3895A>T (p.Ile1299Phe)
c.3445A>T (p.Ile1149Phe)
c.1747A>T (p.Ile583Phe)
c.1564A>T (p.Ile522Phe)
c.3796A>T (p.Ile1266Phe)
c.3748A>T (p.Ile1250Phe)
c.3517A>T (p.Ile1173Phe)
c.3418A>T (p.Ile1140Phe)
c.2599A>T (p.Ile867Phe)
n.4150A>T
13g.51937366T>CCA388021179ATP7Bc.*1581A>G (n.*1581A>G)
c.*2675A>G (n.*2675A>G)
c.3310A>G (p.Ile1104Val)
c.3931A>G (p.Ile1311Val)
c.3598A>G (p.Ile1200Val)
c.3679A>G (p.Ile1227Val)
n.1254A>G
c.3697A>G (p.Ile1233Val)
n.4070A>G
n.797A>G
c.2866A>G (p.Ile956Val)
c.2641A>G (p.Ile881Val)
c.3736A>G (p.Ile1246Val)
c.1709A>G
c.*1032A>G (n.*1032A>G)
n.4675A>G
n.3276A>G
c.3787A>G (p.Ile1263Val)
c.3835A>G (p.Ile1279Val)
c.3895A>G (p.Ile1299Val)
c.3445A>G (p.Ile1149Val)
c.1747A>G (p.Ile583Val)
c.1564A>G (p.Ile522Val)
c.3796A>G (p.Ile1266Val)
c.3748A>G (p.Ile1250Val)
c.3517A>G (p.Ile1173Val)
c.3418A>G (p.Ile1140Val)
c.2599A>G (p.Ile867Val)
n.4150A>G
13g.51937366T>GCA388021181ATP7Bc.*1581A>C (n.*1581A>C)
c.*2675A>C (n.*2675A>C)
c.3310A>C (p.Ile1104Leu)
c.3931A>C (p.Ile1311Leu)
c.3598A>C (p.Ile1200Leu)
c.3679A>C (p.Ile1227Leu)
n.1254A>C
c.3697A>C (p.Ile1233Leu)
n.4070A>C
n.797A>C
c.2866A>C (p.Ile956Leu)
c.2641A>C (p.Ile881Leu)
c.3736A>C (p.Ile1246Leu)
c.1709A>C
c.*1032A>C (n.*1032A>C)
n.4675A>C
n.3276A>C
c.3787A>C (p.Ile1263Leu)
c.3835A>C (p.Ile1279Leu)
c.3895A>C (p.Ile1299Leu)
c.3445A>C (p.Ile1149Leu)
c.1747A>C (p.Ile583Leu)
c.1564A>C (p.Ile522Leu)
c.3796A>C (p.Ile1266Leu)
c.3748A>C (p.Ile1250Leu)
c.3517A>C (p.Ile1173Leu)
c.3418A>C (p.Ile1140Leu)
c.2599A>C (p.Ile867Leu)
n.4150A>C
13g.51937366_51937369delCA2623119089ATP7Bc.*1578_*1581del (n.*1578_*1581del)
c.*2672_*2675del (n.*2672_*2675del)
c.3307_3310del (p.Ser1103PhefsTer19)
c.3928_3931del (p.Ser1310PhefsTer19)
c.3595_3598del (p.Ser1199PhefsTer19)
c.3676_3679del (p.Ser1226PhefsTer19)
n.1251_1254del
c.3694_3697del (p.Ser1232PhefsTer19)
n.4067_4070del
n.794_797del
c.2863_2866del (p.Ser955PhefsTer19)
c.2638_2641del (p.Ser880PhefsTer19)
c.3733_3736del (p.Ser1245PhefsTer19)
c.1706_1709del
c.*1029_*1032del (n.*1029_*1032del)
n.4672_4675del
n.3273_3276del
c.3784_3787del (p.Ser1262PhefsTer19)
c.3832_3835del (p.Ser1278PhefsTer19)
c.3892_3895del (p.Ser1298PhefsTer19)
c.3442_3445del (p.Ser1148PhefsTer19)
c.1744_1747del (p.Ser582PhefsTer19)
c.1561_1564del (p.Ser521PhefsTer19)
c.3793_3796del (p.Ser1265PhefsTer19)
c.3745_3748del (p.Ser1249PhefsTer19)
c.3514_3517del (p.Ser1172PhefsTer19)
c.3415_3418del (p.Ser1139PhefsTer19)
c.2596_2599del (p.Ser866PhefsTer19)
n.4147_4150del
 gnomAD v4
13g.51937367G>ACA484024248ATP7Bc.*1580C>T (n.*1580C>T)
c.*2674C>T (n.*2674C>T)
c.3309C>T (p.Ser1103=)
c.3930C>T (p.Ser1310=)
c.3597C>T (p.Ser1199=)
c.3678C>T (p.Ser1226=)
n.1253C>T
c.3696C>T (p.Ser1232=)
n.4069C>T
n.796C>T
c.2865C>T (p.Ser955=)
c.2640C>T (p.Ser880=)
c.3735C>T (p.Ser1245=)
c.1708C>T
c.*1031C>T (n.*1031C>T)
n.4674C>T
n.3275C>T
c.3786C>T (p.Ser1262=)
c.3834C>T (p.Ser1278=)
c.3894C>T (p.Ser1298=)
c.3444C>T (p.Ser1148=)
c.1746C>T (p.Ser582=)
c.1563C>T (p.Ser521=)
c.3795C>T (p.Ser1265=)
c.3747C>T (p.Ser1249=)
c.3516C>T (p.Ser1172=)
c.3417C>T (p.Ser1139=)
c.2598C>T (p.Ser866=)
n.4149C>T
13g.51937367G>CCA6988532ATP7Bc.*1580C>G (n.*1580C>G)
c.*2674C>G (n.*2674C>G)
c.3309C>G (p.Ser1103Arg)
c.3930C>G (p.Ser1310Arg)
c.3597C>G (p.Ser1199Arg)
c.3678C>G (p.Ser1226Arg)
n.1253C>G
c.3696C>G (p.Ser1232Arg)
n.4069C>G
n.796C>G
c.2865C>G (p.Ser955Arg)
c.2640C>G (p.Ser880Arg)
c.3735C>G (p.Ser1245Arg)
c.1708C>G
c.*1031C>G (n.*1031C>G)
n.4674C>G
n.3275C>G
c.3786C>G (p.Ser1262Arg)
c.3834C>G (p.Ser1278Arg)
c.3894C>G (p.Ser1298Arg)
c.3444C>G (p.Ser1148Arg)
c.1746C>G (p.Ser582Arg)
c.1563C>G (p.Ser521Arg)
c.3795C>G (p.Ser1265Arg)
c.3747C>G (p.Ser1249Arg)
c.3516C>G (p.Ser1172Arg)
c.3417C>G (p.Ser1139Arg)
c.2598C>G (p.Ser866Arg)
n.4149C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51937367G=CA2091553506ATP7Bc.*1580C= (n.*1580C=)
c.*2674C= (n.*2674C=)
c.3309C= (p.Ser1103=)
c.3930C= (p.Ser1310=)
c.3597C= (p.Ser1199=)
c.3678C= (p.Ser1226=)
n.1253C=
c.3696C= (p.Ser1232=)
n.4069C=
n.796C=
c.2865C= (p.Ser955=)
c.2640C= (p.Ser880=)
c.3735C= (p.Ser1245=)
c.1708C=
c.*1031C= (n.*1031C=)
n.4674C=
n.3275C=
c.3786C= (p.Ser1262=)
c.3834C= (p.Ser1278=)
c.3894C= (p.Ser1298=)
c.3444C= (p.Ser1148=)
c.1746C= (p.Ser582=)
c.1563C= (p.Ser521=)
c.3795C= (p.Ser1265=)
c.3747C= (p.Ser1249=)
c.3516C= (p.Ser1172=)
c.3417C= (p.Ser1139=)
c.2598C= (p.Ser866=)
n.4149C=
13g.51937367G>TCA388021183ATP7Bc.*1580C>A (n.*1580C>A)
c.*2674C>A (n.*2674C>A)
c.3309C>A (p.Ser1103Arg)
c.3930C>A (p.Ser1310Arg)
c.3597C>A (p.Ser1199Arg)
c.3678C>A (p.Ser1226Arg)
n.1253C>A
c.3696C>A (p.Ser1232Arg)
n.4069C>A
n.796C>A
c.2865C>A (p.Ser955Arg)
c.2640C>A (p.Ser880Arg)
c.3735C>A (p.Ser1245Arg)
c.1708C>A
c.*1031C>A (n.*1031C>A)
n.4674C>A
n.3275C>A
c.3786C>A (p.Ser1262Arg)
c.3834C>A (p.Ser1278Arg)
c.3894C>A (p.Ser1298Arg)
c.3444C>A (p.Ser1148Arg)
c.1746C>A (p.Ser582Arg)
c.1563C>A (p.Ser521Arg)
c.3795C>A (p.Ser1265Arg)
c.3747C>A (p.Ser1249Arg)
c.3516C>A (p.Ser1172Arg)
c.3417C>A (p.Ser1139Arg)
c.2598C>A (p.Ser866Arg)
n.4149C>A
13g.51937368C>ACA250073402ATP7Bc.*1579G>T (n.*1579G>T)
c.*2673G>T (n.*2673G>T)
c.3308G>T (p.Ser1103Ile)
c.3929G>T (p.Ser1310Ile)
c.3596G>T (p.Ser1199Ile)
c.3677G>T (p.Ser1226Ile)
n.1252G>T
c.3695G>T (p.Ser1232Ile)
n.4068G>T
n.795G>T
c.2864G>T (p.Ser955Ile)
c.2639G>T (p.Ser880Ile)
c.3734G>T (p.Ser1245Ile)
c.1707G>T
c.*1030G>T (n.*1030G>T)
n.4673G>T
n.3274G>T
c.3785G>T (p.Ser1262Ile)
c.3833G>T (p.Ser1278Ile)
c.3893G>T (p.Ser1298Ile)
c.3443G>T (p.Ser1148Ile)
c.1745G>T (p.Ser582Ile)
c.1562G>T (p.Ser521Ile)
c.3794G>T (p.Ser1265Ile)
c.3746G>T (p.Ser1249Ile)
c.3515G>T (p.Ser1172Ile)
c.3416G>T (p.Ser1139Ile)
c.2597G>T (p.Ser866Ile)
n.4148G>T
 dbSNP gnomAD v4
13g.51937368C=CA2091553511ATP7Bc.*1579G= (n.*1579G=)
c.*2673G= (n.*2673G=)
c.3308G= (p.Ser1103=)
c.3929G= (p.Ser1310=)
c.3596G= (p.Ser1199=)
c.3677G= (p.Ser1226=)
n.1252G=
c.3695G= (p.Ser1232=)
n.4068G=
n.795G=
c.2864G= (p.Ser955=)
c.2639G= (p.Ser880=)
c.3734G= (p.Ser1245=)
c.1707G=
c.*1030G= (n.*1030G=)
n.4673G=
n.3274G=
c.3785G= (p.Ser1262=)
c.3833G= (p.Ser1278=)
c.3893G= (p.Ser1298=)
c.3443G= (p.Ser1148=)
c.1745G= (p.Ser582=)
c.1562G= (p.Ser521=)
c.3794G= (p.Ser1265=)
c.3746G= (p.Ser1249=)
c.3515G= (p.Ser1172=)
c.3416G= (p.Ser1139=)
c.2597G= (p.Ser866=)
n.4148G=
13g.51937368C>GCA6988533ATP7Bc.*1579G>C (n.*1579G>C)
c.*2673G>C (n.*2673G>C)
c.3308G>C (p.Ser1103Thr)
c.3929G>C (p.Ser1310Thr)
c.3596G>C (p.Ser1199Thr)
c.3677G>C (p.Ser1226Thr)
n.1252G>C
c.3695G>C (p.Ser1232Thr)
n.4068G>C
n.795G>C
c.2864G>C (p.Ser955Thr)
c.2639G>C (p.Ser880Thr)
c.3734G>C (p.Ser1245Thr)
c.1707G>C
c.*1030G>C (n.*1030G>C)
n.4673G>C
n.3274G>C
c.3785G>C (p.Ser1262Thr)
c.3833G>C (p.Ser1278Thr)
c.3893G>C (p.Ser1298Thr)
c.3443G>C (p.Ser1148Thr)
c.1745G>C (p.Ser582Thr)
c.1562G>C (p.Ser521Thr)
c.3794G>C (p.Ser1265Thr)
c.3746G>C (p.Ser1249Thr)
c.3515G>C (p.Ser1172Thr)
c.3416G>C (p.Ser1139Thr)
c.2597G>C (p.Ser866Thr)
n.4148G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51937368C>TCA388021185ATP7Bc.*1579G>A (n.*1579G>A)
c.*2673G>A (n.*2673G>A)
c.3308G>A (p.Ser1103Asn)
c.3929G>A (p.Ser1310Asn)
c.3596G>A (p.Ser1199Asn)
c.3677G>A (p.Ser1226Asn)
n.1252G>A
c.3695G>A (p.Ser1232Asn)
n.4068G>A
n.795G>A
c.2864G>A (p.Ser955Asn)
c.2639G>A (p.Ser880Asn)
c.3734G>A (p.Ser1245Asn)
c.1707G>A
c.*1030G>A (n.*1030G>A)
n.4673G>A
n.3274G>A
c.3785G>A (p.Ser1262Asn)
c.3833G>A (p.Ser1278Asn)
c.3893G>A (p.Ser1298Asn)
c.3443G>A (p.Ser1148Asn)
c.1745G>A (p.Ser582Asn)
c.1562G>A (p.Ser521Asn)
c.3794G>A (p.Ser1265Asn)
c.3746G>A (p.Ser1249Asn)
c.3515G>A (p.Ser1172Asn)
c.3416G>A (p.Ser1139Asn)
c.2597G>A (p.Ser866Asn)
n.4148G>A
 ClinVar gnomAD v4

Number of alleles fetched