| Gene | Mutation (*-novel) | Number of identified alleles |
|---|---|---|
| ATP7B | c.C3207A(p.H1069Q) | 20 |
| c.T205G(p.C69G)* | 5 | |
| c.C208A(p.Q70K)* | 4 | |
| c.C2078G(p.S693C) | 4 | |
| c.T2077G(p.S693A) | 3 | |
| c.C2332G(p.R778G) | 2 | |
| c.-128_-127insACCTC* | 2 | |
| c.G3190A(p.E1064K) | 1 | |
| c.C3955T(p.R1319X) | 1 | |
| c.G1603T(p.E535X)* | 1 | |
| c.197_198insCTTCACA:p.G66fs* | 1 | |
| c.G2605T(p.G869X) | 1 | |
| c.A3034T(p.I1012F) | 1 | |
| c.C4301T(p.T1434M) | 1 | |
| APOE | c.T388C(p.C130R) | 5 |
| c.C526T(p.R176C) | 2 | |
| c.A437C(p.Q146P) | 2 | |
| HFE | c.C187G(p.H63D) | 4 |
| c.G322C (p.E108Q)* | 2 | |
| c.A193T(p.S65C) | 1 | |
| c.G845A(p.C282Y) | 1 |
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