Supplemental Table 1: ATP7B Missense substitution with correspondence disease status, amino acid change, gene and protein location, and functional predition analyses (DV: Wilson’s disease causing variant; NDV: non-disease causing variant; MBD: metal-binding domain; TM: Transmembrane domain; Td: actuator domain; Ph: phosphorylation domain).
Variant Name / Disease Status / Amino Acid Change / Substitution / Exon / Protein Region / Polyphen2 / SIFT / Panther / PhD-SNP / combined Pdeleteriousc.41C>A / NDV / A14D / non-conservative / 1 / before MBD1 / 0.073 / 0.04 / NA / Neutral / 0.344
c.98T>C / NDV / K21R / conservative / 1 / before MBD1 / 0.002 / 0.60 / NA / Neutral / 0.134
c.62A>G / NDV / M33T / non-conservative / 1 / before MBD1 / 0.025 / 0.62 / NA / Neutral / 0.135
c.122A>G / DV / N41S / conservative / 1 / before MBD1 / 0.946 / 0.04 / NA / Neutral / 0.635
c.254G>T / DV / G85V / conservative / 2 / MBD1 / 1 / 0.00 / NA / Disease / 1.000
c.287G>A / DV / G96D / non-conservative / 2 / MBD1 / 0.048 / 0.58 / NA / Disease / 0.489
c.445G>T / NDV / V149L / conservative / 2 / MBD2 / 0.737 / 0.08 / NA / Neutral / 0.552
c.588C>A / DV / D196E / conservative / 2 / MBD2 / 0 / 1.00 / NA / Neutral / 0.000
c.664A>G / NDV / I222V / conservative / 2 / between MBD2/MBD3 / 0.001 / 0.20 / NA / Neutral / 0.267
c.677G>A / unknown / R226Q / non-conservative / 2 / between MBD2/MBD3 / 0.97 / 0.14 / NA / Neutral / 0.610
c.694C>T / NDV / P232S / non-conservative / 2 / between MBD2/MBD3 / 0.003 / 0.73 / NA / Neutral / 0.091
c.748G>A / NDV / G250R / non-conservative / 2 / between MBD2/MBD3 / 0.002 / 0.51 / NA / Neutral / 0.164
c.997G>A / DV / G333R / non-conservative / 2 / between MBD3/MBD4 / 0.167 / 0.50 / NA / Neutral / 0.222
c.1036C>T / NDV / P346S / non-conservative / 2 / between MBD3/MBD4 / 0.001 / 0.77 / NA / Neutral / 0.077
c.1049C>T / NDV / P350L / conservative / 2 / between MBD3/MBD4 / 0 / 0.86 / NA / Neutral / 0.047
c.1055A>C / NDV / N352T / conservative / 2 / between MBD3/MBD4 / 0 / 0.64 / NA / Neutral / 0.120
c.1142T>G / DV / I381S / non-conservative / 2 / MBD4 / 0.967 / 0.00 / NA / Disease / 0.989
c.1156G>A / NDV / G386R / non-conservative / 2 / MBD4 / 1 / 0.00 / NA / Disease / 1.000
c.1198A>G / NDV / T400A / non-conservative / 2 / MBD4 / 0.014 / 0.33 / NA / Neutral / 0.228
c.1216T>G / NDV / S406A / non-conservative / 2 / MBD4 / 0.001 / 0.78 / NA / Neutral / 0.074
c.1336G>C / NDV / V446L / conservative / 3 / between MBD4/MBD5 / 0 / 0.32 / NA / Neutral / 0.227
c.1351G>A / NDV / G451S / non-conservative / 3 / between MBD4/MBD5 / 0.004 / 0.71 / NA / Neutral / 0.098
c.1366G>C / NDV / V456L / conservative / 3 / between MBD4/MBD5 / 0.001 / 0.71 / NA / Neutral / 0.097
c.1375G>T / NDV / V459L / conservative / 3 / between MBD4/MBD5 / 0.001 / 0.31 / NA / Neutral / 0.230
c.1396C>G / NDV / L466V / conservative / 3 / between MBD4/MBD5 / 0.001 / 0.27 / NA / Neutral / 0.244
c.1456G>T / DV / A486S / non-conservative / 3 / MBD5 / 0 / 0.63 / NA / Neutral / 0.123
c.1475T>C / DV / L492S / non-conservative / 3 / MBD5 / 1 / 0.00 / 0.891 / Disease / 0.973
c.1496G>C / NDV / C499S / conservative / 4 / MBD5 / 1 / 0.00 / 0.959 / Disease / 0.990
c.1544G>T / DV / G515V / conservative / 4 / MBD5 / 1 / 0.00 / 0.567 / Disease / 0.892
c.1555G>A / DV / V519M / conservative / 4 / MBD5 / 0.999 / 0.00 / 0.875 / Neutral / 0.719
c.1594T>C / DV / Y532H / non-conservative / 4 / MBD5 / 1 / 0.17 / 0.796 / Neutral / 0.657
c.1607T>C / DV / V536A / conservative / 4 / MBD5 / 0 / 0.10 / 0.699 / Neutral / 0.400
c.1621G>A / DV / E541K / non-conservative / 4 / MBD5 / 0.009 / 0.78 / 0.745 / Neutral / 0.244
c.1646T>C / DV / L549P / conservative / 4 / MBD5 / 1 / 0.00 / 0.871 / Disease / 0.968
c.1666A>G / NDV / M556V / conservative / 4 / between MBD5/MBD6 / 0.061 / 0.08 / 0.569 / Disease / 0.638
c.1694A>G / NDV / N565S / conservative / 4 / MBD6 / 0 / 0.64 / 0.675 / Neutral / 0.259
c.1706C>G / NDV / T569R / non-conservative / 5 / MBD6 / 0.001 / 0.51 / NA / Neutral / 0.164
c.1771G>A / DV / G591S / non-conservative / 5 / MBD6 / 1 / 0.00 / 0.917 / Disease / 0.979
c.1772G>A / DV / G591D / non-conservative / 5 / MBD6 / 1 / 0.00 / 0.983 / Disease / 0.996
c.1810G>C / DV / A604P / conservative / 5 / MBD6 / 1 / 0.02 / 0.766 / Disease / 0.937
c.1846C>T / DV / R616W / non-conservative / 5 / MBD6 / 1 / 0.00 / 0.996 / Disease / 0.999
c.1847G>A / DV / R616Q / non-conservative / 5 / MBD6 / 1 / 0.00 / 0.756 / Disease / 0.939
c.1877G>C / DV / G626A / conservative / 6 / MBD6 / 1 / 0.00 / NA / Disease / 1.000
c.1882C>T / NDV / H628Y / non-conservative / 6 / MBD6 / 0.809 / 0.01 / 0.903 / Disease / 0.926
c.1910A>G / NDV / N637S / conservative / 6 / between MBD6/TM1 / 0.001 / 0.94 / 0.838 / Neutral / 0.225
c.1915C>T / DV / H639Y / non-conservative / 6 / between MBD6/TM1 / 0.994 / 0.04 / 0.861 / Neutral / 0.704
c.1922T>C / DV / L641S / conservative / 6 / between MBD6/TM1 / 1 / 0.00 / 0.976 / Disease / 0.994
c.1924G>C / DV / D642H / non-conservative / 6 / between MBD6/TM1 / 1 / 0.00 / 0.826 / Disease / 0.957
c.1934T>G / DV / M645R / non-conservative / 6 / between MBD6/TM1 / 0 / 0.79 / 0.786 / Disease / 0.499
c.1958C>A / DV / S653Y / conservative / 7 / between MBD6/TM1 / 1 / 0.00 / NA / Disease / 1.000
c.1969A>C / DV / S657R / non-conservative / 7 / TM1 / 0.998 / 0.00 / NA / Disease / 0.999
c.1994T>G / NDV / M665R / non-conservative / 7 / TM1 / 0.978 / 0.00 / NA / Disease / 0.993
c.1995G>A / DV / M665I / conservative / 7 / TM1 / 0.165 / 0.02 / NA / Disease / 0.715
c.2027A>T / DV / N676I / non-conservative / 7 / between TM1/TM2 / 0.025 / 0.30 / NA / Neutral / 0.242
c.2029G>A / NDV / E677K / non-conservative / 7 / between TM1/TM2 / 0.002 / 0.90 / NA / Neutral / 0.034
c.2069C>T / DV / P690L / conservative / 7 / TM2 / 1 / 0.00 / NA / Disease / 1.000
c.2071G>A / DV / G691R / non-conservative / 7 / TM2 / 1 / 0.00 / NA / Disease / 1.000
c.2077T>C / DV / S693P / non-conservative / 7 / TM2 / 1 / 0.00 / NA / Disease / 1.000
c.2078C>G / DV / S693C / conservative / 7 / TM2 / 1 / 0.00 / NA / Disease / 1.000
c.2078C>A / DV / S693Y / conservative / 7 / TM2 / 1 / 0.12 / NA / Disease / 0.960
c.2108G>A / DV / C703Y / conservative / 7 / TM2 / 0.999 / 0.00 / NA / Disease / 1.000
c.2123T>C / DV / L708P / conservative / 8 / TM2 / 0.74 / 0.00 / NA / Disease / 0.913
c.2128G>C / DV / G710R / non-conservative / 8 / TM2 / 1 / 0.01 / NA / Disease / 0.997
c.2128G>A / DV / G710S / non-conservative / 8 / TM2 / 1 / 0.02 / NA / Disease / 0.993
c.2129G>C / DV / G710A / conservative / 8 / TM2 / 1 / 0.04 / NA / Neutral / 0.653
c.2129G>T / DV / G710V / conservative / 8 / TM2 / 1 / 0.19 / NA / Disease / 0.937
c.2131G>A / DV / G711R / non-conservative / 8 / TM2 / 1 / 0.00 / NA / Disease / 1.000
c.2131G>T / DV / G711W / conservative / 8 / TM2 / 1 / 0.00 / NA / Disease / 1.000
c.2132G>A / DV / G711E / non-conservative / 8 / TM2 / 1 / 0.00 / NA / Disease / 1.000
c.2138A>G / DV / Y713C / conservative / 8 / TM2 / 1 / 0.00 / 0.897 / Disease / 0.974
c.2143T>C / DV / Y715H / non-conservative / 8 / TM2 / 1 / 0.05 / 0.909 / Disease / 0.965
c.2161T>C / DV / S721P / non-conservative / 8 / between TM2/TM3 / 0.998 / 0.00 / 0.963 / Disease / 0.990
c.2167A>G / NDV / R723G / non-conservative / 8 / between TM2/TM3 / 0.749 / 0.01 / 0.946 / Disease / 0.921
c.2180C>T / DV / A727V / conservative / 8 / between TM2/TM3 / 0.999 / 0.01 / NA / Disease / 0.996
c.2180C>A / DV / A727D / non-conservative / 8 / between TM2/TM3 / 1 / 0.01 / NA / Disease / 0.997
c.2182A>G / NDV / N728D / non-conservative / 8 / between TM2/TM3 / 1 / 0.01 / 0.935 / Disease / 0.981
c.2185A>G / DV / M729V / conservative / 8 / between TM2/TM3 / 1 / 0.00 / 0.884 / Disease / 0.971
c.2192T>A / DV / V731E / non-conservative / 8 / TM3 / 1 / 0.00 / 0.994 / Disease / 0.999
c.2210C>G / DV / T737R / non-conservative / 8 / TM3 / 1 / 0.00 / 0.988 / Disease / 0.997
c.2222A>G / DV / Y741C / conservative / 8 / TM3 / 1 / 0.00 / 0.842 / Disease / 0.961
c.2230T>C / DV / S744P / non-conservative / 8 / TM3 / 1 / 0.00 / 0.961 / Disease / 0.990
c.2239A>T / DV / I747F / conservative / 8 / TM3 / 0.998 / 0.00 / 0.839 / Disease / 0.959
c.2267C>G / DV / A756G / conservative / 8 / between TM3/TM4 / 1 / 0.21 / 0.593 / Neutral / 0.596
c.2267C>T / DV / A756V / conservative / 8 / between TM3/TM4 / 1 / 0.08 / 0.825 / Neutral / 0.686
c.2273G>T / DV / R758M / non-conservative / 8 / between TM3/TM4 / 0.626 / 0.22 / 0.928 / Neutral / 0.584
c.2279C>T / DV / P760L / conservative / 8 / between TM3/TM4 / 1 / 0.00 / 0.821 / Disease / 0.955
c.2288T>A / DV / F763Y / non-conservative / 8 / TM4 / 1 / 0.00 / 0.842 / Neutral / 0.711
c.2293G>A / DV / D765N / non-conservative / 8 / TM4 / 1 / 0.00 / 0.985 / Disease / 0.996
c.2294A>G / DV / D765G / non-conservative / 8 / TM4 / 1 / 0.00 / 0.965 / Disease / 0.991
c.2296A>C / DV / T766P / conservative / 8 / TM4 / 1 / 0.00 / 0.991 / Disease / 0.998
c.2297C>T / DV / T766M / conservative / 8 / TM4 / 1 / 0.00 / 0.964 / Neutral / 0.741
c.2297C>G / DV / T766R / non-conservative / 8 / TM4 / 1 / 0.00 / 0.987 / Neutral / 0.747
c.2303C>A / DV / P768H / non-conservative / 8 / TM4 / 1 / 0.00 / 0.975 / Neutral / 0.744
c.2303C>T / DV / P768L / conservative / 8 / TM4 / 1 / 0.00 / 0.896 / Disease / 0.974
c.2305A>G / DV / M769V / conservative / 8 / TM4 / 1 / 0.00 / 0.856 / Neutral / 0.714
c.2306T>G / DV / M769R / non-conservative / 8 / TM4 / 1 / 0.00 / 0.985 / Disease / 0.996
c.2307G>T / DV / M769I / conservative / 8 / TM4 / 1 / 0.00 / 0.755 / Disease / 0.939
c.2295A>C / DV / M769L / conservative / 8 / TM4 / 1 / 0.00 / 0.746 / Disease / 0.937
c.2327T>C / DV / L776P / conservative / 8 / TM4 / 1 / 0.00 / 0.996 / Disease / 0.999
c.2332C>G / DV / R778G / non-conservative / 8 / TM4 / 1 / 0.00 / 0.996 / Disease / 0.999
c.2332C>T / DV / R778W / non-conservative / 8 / TM4 / 1 / 0.00 / 0.996 / Disease / 0.999
c.2333G>A / DV / R778Q / non-conservative / 8 / TM4 / 1 / 0.00 / 0.945 / Disease / 0.986
c.2333G>T / DV / R778L / non-conservative / 8 / TM4 / 1 / 0.00 / 0.885 / Disease / 0.971
c.2363C>T / DV / T788I / non-conservative / 9 / between TM4/Td / 0.966 / 0.00 / 0.987 / Disease / 0.988
c.2383C>T / DV / L795F / conservative / 9 / between TM4/Td / 1 / 0.00 / 0.885 / Disease / 0.971
c.2384T>G / DV / L795R / non-conservative / 9 / between TM4/Td / 1 / 0.00 / 0.997 / Disease / 0.999
c.2395C>A / NDV / Q799K / non-conservative / 9 / between TM4/Td / 1 / 0.40 / 0.762 / Disease / 0.841
c.2407G>A / DV / A803T / non-conservative / 9 / between TM4/Td / 1 / 0.00 / 0.919 / Disease / 0.980
c.2473G>T / NDV / V825L / conservative / 10 / between TM4/Td / 0.777 / 0.06 / 0.867 / Neutral / 0.646
c.2480G>C / DV / R827P / non-conservative / 10 / between TM4/Td / 0.999 / 0.03 / 0.947 / Disease / 0.979
c.2485G>A / NDV / D829N / non-conservative / 10 / between TM4/Td / 1 / 0.00 / 0.998 / Disease / 1.000
c.2495A>G / NDV / K832R / non-conservative / 10 / between TM4/Td / 0.423 / 0.09 / 0.812 / Neutral / 0.536
c.2519C>T / DV / P840L / conservative / 10 / Td / 1 / 0.00 / 0.987 / Disease / 0.997
c.2524G>A / DV / D842N / non-conservative / 10 / Td / 1 / 0.00 / 0.993 / Disease / 0.998
c.2527G>A / DV / G843R / non-conservative / 10 / Td / 1 / 0.00 / 0.996 / Disease / 0.999
c.2570T>C / DV / I857T / conservative / 10 / Td / 0.998 / 0.00 / 0.996 / Disease / 0.999
c.2572A>G / DV / T858A / conservative / 10 / Td / 0.455 / 0.00 / 0.997 / Disease / 0.863
c.2581G>A / DV / A861T / conservative / 11 / Td / 0.53 / 0.01 / 0.78 / Disease / 0.825
c.2590G>A / NDV / V864I / conservative / 11 / Td / 0.993 / 0.07 / 0.881 / Neutral / 0.701
c.2606G>T / DV / G869V / conservative / 11 / between Td/TM5 / 1 / 0.00 / 0.976 / Disease / 0.994
c.2605G>A / DV / G869R / non-conservative / 11 / between Td/TM5 / 1 / 0.00 / 0.765 / Disease / 0.941
c.2621C>T / DV / A874V / conservative / 11 / between Td/TM5 / 1 / 0.01 / 0.986 / Disease / 0.994
c.2623A>G / DV / G875R / non-conservative / 11 / between Td/TM5 / 1 / 0.00 / 0.999 / Disease / 1.000
c.2627C>T / DV / S876F / non-conservative / 11 / between Td/TM5 / 1 / 0.00 / 0.994 / Disease / 0.999
c.2634T>A/G / DV / N878K / non-conservative / 11 / between Td/TM5 / 1 / 0.00 / 0.994 / Disease / 0.999
c.2662A>C / DV / T888P / conservative / 11 / between Td/TM5 / 0.998 / 0.00 / 0.996 / Disease / 0.999
c.2668G>A / DV / V890M / conservative / 11 / between Td/TM5 / 1 / 0.01 / 0.99 / Disease / 0.995
c.2672G>A / DV / G891D / non-conservative / 11 / between Td/TM5 / 0.999 / 0.00 / 0.998 / Disease / 0.999
c.2672G>T / DV / G891V / conservative / 11 / between Td/TM5 / 1 / 0.00 / 0.991 / Disease / 0.998
c.2693A>G / DV / Q898R / non-conservative / 11 / between Td/TM5 / 0.963 / 0.00 / 0.769 / Disease / 0.933
c.2695A>T / DV / I899F / conservative / 11 / between Td/TM5 / 1 / 0.00 / 0.99 / Disease / 0.998
c.2752G>A / DV / D918N / non-conservative / 12 / between Td/TM5 / 1 / 0.00 / 0.862 / Disease / 0.966
c.2753A>C / DV / D918A / non-conservative / 12 / between Td/TM5 / 1 / 0.00 / 0.911 / Disease / 0.978
c.2755C>G / DV / R919G / non-conservative / 12 / between Td/TM5 / 0.832 / 0.01 / 0.882 / Disease / 0.926
c.2755C>T / DV / R919W / non-conservative / 12 / between Td/TM5 / 0.999 / 0.00 / 0.978 / Disease / 0.994
c.2762G>A / DV / S921N / conservative / 12 / between Td/TM5 / 1 / 0.00 / 0.945 / Neutral / 0.736
c.2773G>T / NDV / V925F / conservative / 12 / TM5 / 1 / 0.00 / 0.915 / Disease / 0.979
c.2777C>G / NDV / P926R / non-conservative / 12 / TM5 / 1 / 0.00 / 0.918 / Disease / 0.980
c.2785A>G / NDV / I929V / conservative / 12 / TM5 / 0.033 / 1.00 / 0.736 / Neutral / 0.192
c.2797A>C / DV / T933P / conservative / 12 / TM5 / 0.994 / 0.06 / 0.909 / Disease / 0.961
c.2804C>T / DV / T935M / conservative / 12 / TM5 / 1 / 0.00 / 0.977 / Disease / 0.994
c.2817G>T/C / DV / W939C / non-conservative / 12 / TM5 / 1 / 0.00 / 0.992 / Disease / 0.998
c.2827G>A / DV / G943S / non-conservative / 12 / TM5 / 1 / 0.16 / 0.909 / Disease / 0.937
c.2827G>T / DV / G943C / non-conservative / 12 / TM5 / 1 / 0.00 / 0.992 / Disease / 0.998
c.2828G>A / DV / G943D / non-conservative / 12 / TM5 / 1 / 0.00 / 0.976 / Disease / 0.994
c.2846T>G / DV / V949G / non-conservative / 12 / between TM5/TM6 / 0.728 / 0.15 / NA / Disease / 0.859
c.2855A>G / NDV / K952R / conservative / 12 / between TM5/TM6 / 0 / 0.53 / 0.624 / Neutral / 0.274
c.2899A>T / DV / I967F / conservative / 13 / between TM5/TM6 / 0.872 / 0.01 / NA / Disease / 0.954
c.2905C>T / DV / R969W / non-conservative / 13 / TM6 / 1 / 0.02 / 0.943 / Disease / 0.981
c.2906G>A / DV / R969Q / non-conservative / 13 / TM6 / 1 / 0.45 / 0.867 / Disease / 0.854
c.2912C>T / DV / A971V / conservative / 13 / TM6 / 1 / 0.03 / 0.848 / Disease / 0.955
c.2921C>T / DV / T974M / non-conservative / 13 / TM6 / 1 / 0.12 / 0.79 / Disease / 0.918
c.2924C>A / DV / S975Y / conservative / 13 / TM6 / 1 / 0.01 / 0.987 / Disease / 0.994
c.2930C>T / DV / T977M / non-conservative / 13 / TM6 / 1 / 0.00 / 0.946 / Disease / 0.987
c.2936T>A / DV / L979Q / non-conservative / 13 / TM6 / 1 / 0.00 / 0.996 / Neutral / 0.749
c.2939G>A / DV / C980Y / conservative / 13 / TM6 / 0.997 / 0.00 / 0.956 / Disease / 0.988
c.2945C>T / DV / A982V / conservative / 13 / TM6 / 1 / 0.00 / 0.883 / Neutral / 0.721
c.2954G>A / DV / C985Y / conservative / 13 / TM6 / 1 / 0.00 / 0.989 / Disease / 0.997
c.2962G>C / DV / G988R / non-conservative / 13 / TM6 / 0.997 / 0.00 / 0.985 / Disease / 0.996
c.2963G>T / DV / G988V / conservative / 13 / TM6 / 1 / 0.00 / 0.832 / Disease / 0.958
c.2972C>T / DV / T991M / non-conservative / 13 / between TM6/Ph / 1 / 0.00 / 0.824 / Disease / 0.956
c.2975C>T / DV / P992L / conservative / 13 / between TM6/Ph / 1 / 0.00 / 0.968 / Disease / 0.992
c.2975C>A / DV / P992H / non-conservative / 13 / between TM6/Ph / 1 / 0.00 / 0.989 / Disease / 0.997
c.2978C>T / DV / T993M / non-conservative / 13 / between TM6/Ph / 1 / 0.00 / 0.939 / Disease / 0.985
c.2984T>C / DV / V995A / conservative / 13 / between TM6/Ph / 1 / 0.00 / 0.96 / Neutral / 0.740
c.2987T>C / DV / M996T / non-conservative / 13 / between TM6/Ph / 1 / 0.00 / 0.73 / Disease / 0.933
c.2993G>A / DV / G998D / non-conservative / 13 / between TM6/Ph / 1 / 0.00 / 0.986 / Disease / 0.997
c.2998G>A / DV / G1000R / non-conservative / 13 / between TM6/Ph / 1 / 0.00 / 0.746 / Disease / 0.937
c.3007G>A / DV / A1003T / non-conservative / 13 / between TM6/Ph / 1 / 0.00 / 0.97 / Disease / 0.993
c.3008C>T / DV / A1003V / conservative / 13 / between TM6/Ph / 1 / 0.00 / 0.939 / Disease / 0.985
c.3011A>C / DV / Q1004P / non-conservative / 13 / between TM6/Ph / 1 / 0.13 / 0.986 / Disease / 0.964
c.3029A>G / DV / K1010R / conservative / 13 / between TM6/Ph / 1 / 0.00 / 0.735 / Disease / 0.934
c.3029A>C / DV / K1010T / non-conservative / 13 / between TM6/Ph / 0.999 / 0.00 / 0.883 / Disease / 0.971
c.3034G>C / DV / G1012R / non-conservative / 13 / between TM6/Ph / 1 / 0.00 / 0.965 / Disease / 0.991
c.3035G>T / DV / G1012V / conservative / 13 / between TM6/Ph / 1 / 0.00 / 0.961 / Disease / 0.990
c.3053C>T / DV / A1018V / conservative / 13 / between TM6/Ph / 0.999 / 0.07 / 0.934 / Disease / 0.966
c.3071T>C / DV / V1024A / conservative / 14 / Ph / 0.999 / 0.00 / 0.955 / Neutral / 0.739
c.3074T>G / DV / M1025R / non-conservative / 14 / Ph / 0.536 / 0.02 / 0.969 / Disease / 0.871
c.3080A>C / DV / D1027A / non-conservative / 14 / Ph / 1 / 0.00 / 0.996 / Disease / 0.999
c.3085A>G / DV / T1029A / non-conservative / 14 / Ph / 1 / 0.00 / 0.994 / Disease / 0.999
c.3086C>T / DV / T1029I / non-conservative / 14 / Ph / 1 / 0.00 / 1 / Disease / 1.000
c.3091A>T / DV / T1031S / conservative / 14 / Ph / 1 / 0.00 / 0.996 / Disease / 0.999
c.3091A>G / DV / T1031A / non-conservative / 14 / Ph / 1 / 0.00 / 0.994 / Disease / 0.999
c.3097A>G / DV / T1033A / non-conservative / 14 / Ph / 0.999 / 0.00 / 0.994 / Disease / 0.998
c.3098C>G / DV / T1033S / conservative / 14 / Ph / 1 / 0.00 / 0.995 / Disease / 0.999
c.3101A>G / NDV / H1034R / conservative / 14 / Ph / 0.072 / 0.09 / 0.741 / Neutral / 0.431
c.3104G>T / DV / G1035V / conservative / 14 / Ph / 1 / 0.00 / 0.991 / Disease / 0.998
c.3106G>A / DV / V1036I / conservative / 14 / Ph / 0.247 / 0.23 / 0.843 / Neutral / 0.465
c.3113G>A / DV / R1038K / conservative / 14 / Ph / 0 / 1.00 / 0.715 / Neutral / 0.179
c.3121C>T / DV / R1041W / non-conservative / 14 / ATP loop / 1 / 0.00 / 0.996 / Disease / 0.999
c.3122G>C / DV / R1041P / non-conservative / 14 / ATP loop / 0.999 / 0.01 / 0.98 / Disease / 0.992
c.3128T>C / DV / L1043P / conservative / 14 / ATP loop / 0.998 / 0.33 / 0.981 / Disease / 0.912
c.3140A>T / DV / D1047V / non-conservative / 14 / ATP loop / 0.927 / 0.13 / 0.864 / Disease / 0.915
c.3155C>T / DV / P1052L / conservative / 14 / ATP loop / 0.962 / 0.06 / 0.922 / Disease / 0.956
c.3182G>A / DV / G1061E / non-conservative / 14 / ATP loop / 1 / 0.00 / 0.991 / Disease / 0.998
c.3188C>T / NDV / A1063V / conservative / 14 / ATP loop / 1 / 0.00 / 0.739 / Neutral / 0.685
c.3190G>A / DV / E1064K / non-conservative / 14 / ATP loop / 1 / 0.00 / 0.949 / Disease / 0.987
c.3193G>C / DV / A1065P / conservative / 14 / ATP loop / 0.998 / 0.17 / 0.98 / Disease / 0.952
c.3203A>G / DV / E1068G / non-conservative / 14 / ATP loop / 1 / 0.00 / 0.915 / Disease / 0.979
c.3206A>C / NDV / H1069P / non-conservative / 14 / ATP loop / 1 / 0.00 / 0.99 / Disease / 0.998
c.3207C>A / DV / H1069Q / non-conservative / 14 / ATP loop / 1 / 0.00 / 0.927 / Disease / 0.982
c.3247C>T / DV / L1083F / conservative / 15 / ATP loop / 0.999 / 0.03 / 0.934 / Disease / 0.976
c.3266G>A / DV / G1089E / non-conservative / 15 / ATP loop / 1 / 0.00 / 0.755 / Disease / 0.939
c.3266G>T / DV / G1089V / conservative / 15 / ATP loop / 1 / 0.00 / 0.724 / Disease / 0.931
c.3272G>A / DV / C1091Y / conservative / 15 / ATP loop / 0.999 / 0.02 / 0.815 / Disease / 0.949
c.3282C>G / DV / F1094L / conservative / 15 / ATP loop / 0.999 / 0.00 / 0.836 / Disease / 0.959
c.3284A>C / DV / Q1095P / non-conservative / 15 / ATP loop / 0.997 / 0.01 / 0.987 / Disease / 0.994
c.3293C>G / DV / P1098R / non-conservative / 15 / ATP loop / 1 / 0.00 / 0.94 / Disease / 0.985
c.3295G>A / DV / G1099S / non-conservative / 15 / ATP loop / 0.941 / 0.01 / 0.906 / Disease / 0.959
c.3301G>A / DV / G1101R / non-conservative / 15 / ATP loop / 1 / 0.00 / 0.897 / Disease / 0.974
c.3305T>C / DV / I1102T / non-conservative / 15 / ATP loop / 0.999 / 0.00 / 0.943 / Disease / 0.986
c.3311G>T / DV / C1104F / non-conservative / 15 / ATP loop / 1 / 0.00 / 0.738 / Disease / 0.935
c.3311G>A / DV / C1104Y / conservative / 15 / ATP loop / 1 / 0.00 / 0.97 / Disease / 0.993
c.3316G>A / DV / V1106I / conservative / 15 / ATP loop / 0.863 / 0.15 / 0.779 / Neutral / 0.623
c.3317T>A / DV / V1106D / non-conservative / 15 / ATP loop / 1 / 0.00 / 0.987 / Disease / 0.997
c.3325G>A / NDV / V1109M / conservative / 15 / ATP loop / 1 / 0.01 / NA / Neutral / 0.663
c.3332G>A / DV / G1111D / non-conservative / 15 / ATP loop / 0.001 / 0.46 / NA / Disease / 0.514
c.3344A>G / DV / R1115H / conservative / 15 / ATP loop / 0 / 0.37 / NA / Neutral / 0.210
c.3353G>A / NDV / R1118H / conservative / 15 / ATP loop / 0 / 0.14 / NA / Disease / 0.620
c.3403G>A / NDV / A1135T / non-conservative / 15 / ATP loop / 0 / 0.57 / 0.574 / Neutral / 0.251
c.3416C>G / NDV / A1139G / conservative / 15 / ATP loop / 0 / 0.43 / NA / Neutral / 0.190
c.3419C>T / NDV / A1140V / conservative / 16 / ATP loop / 0 / 0.32 / NA / Neutral / 0.227
c.3426G>C / DV / Q1142H / non-conservative / 16 / ATP loop / 0.001 / 0.16 / 0.731 / Neutral / 0.393
c.3428C>A / NDV / T1143N / conservative / 16 / ATP loop / 0.007 / 0.45 / 0.753 / Neutral / 0.328
c.3436G>A / DV / V1146M / conservative / 16 / ATP loop / 1 / 0.00 / 0.96 / Disease / 0.990
c.3443T>C / DV / I1148T / non-conservative / 16 / ATP loop / 0.999 / 0.00 / 0.984 / Neutral / 0.746
c.3446G>C / DV / G1149A / conservative / 16 / ATP loop / 1 / 0.00 / 0.996 / Disease / 0.999
c.3452G>A / DV / R1151H / conservative / 16 / ATP loop / 1 / 0.01 / 0.923 / Disease / 0.978
c.3451C>T / DV / R1151C / non-conservative / 16 / ATP loop / 1 / 0.00 / 0.873 / Disease / 0.968
c.3457T>C / DV / W1153R / non-conservative / 16 / ATP loop / 1 / 0.00 / 0.835 / Disease / 0.959
c.3459G>T / DV / W1153C / non-conservative / 16 / ATP loop / 1 / 0.00 / 0.95 / Disease / 0.988
c.3467G>A / DV / R1156H / conservative / 16 / ATP loop / 1 / 0.00 / 0.95 / Disease / 0.988
c.3490G>A / DV / D1164N / non-conservative / 16 / ATP loop / 0.103 / 0.03 / 0.748 / Neutral / 0.455
c.3502G>T / DV / A1168S / non-conservative / 16 / ATP loop / 0.057 / 0.51 / 0.937 / Disease / 0.621
c.3502G>C / DV / A1168P / conservative / 16 / ATP loop / 0.985 / 0.13 / 0.986 / Disease / 0.960
c.3505A>G / DV / M1169V / conservative / 16 / ATP loop / 0.811 / 0.01 / 0.809 / Neutral / 0.653
c.3506T>C / DV / M1169T / non-conservative / 16 / ATP loop / 0.994 / 0.01 / 0.855 / Neutral / 0.710
c.3517G>A / DV / E1173K / non-conservative / 16 / ATP loop / 0.983 / 0.00 / 0.912 / Disease / 0.974
c.3518A>G / DV / E1173G / non-conservative / 16 / ATP loop / 0.809 / 0.00 / 0.843 / Neutral / 0.663
c.3526G>A / DV / G1176R / non-conservative / 16 / ATP loop / 1 / 0.00 / 0.999 / Disease / 1.000
c.3527G>A / DV / G1176E / non-conservative / 16 / ATP loop / 1 / 0.00 / 0.999 / Disease / 1.000
c.3532A>G / DV / T1178A / non-conservative / 16 / ATP loop / 0.908 / 0.00 / 0.954 / Disease / 0.966
c.3547G>A / DV / A1183T / non-conservative / 16 / ATP loop / 0.789 / 0.08 / 0.98 / Disease / 0.922
c.3548C>G / DV / A1183G / conservative / 16 / ATP loop / 0.947 / 0.04 / 0.912 / Disease / 0.955
c.3551T>C / DV / I1184T / non-conservative / 16 / ATP loop / 0.999 / 0.00 / 0.726 / Disease / 0.931
c.3556G>A / DV / G1186S / non-conservative / 16 / ATP loop / 0.998 / 0.03 / 0.919 / Disease / 0.972
c.3556G>T / DV / G1186C / non-conservative / 16 / ATP loop / 1 / 0.00 / 0.977 / Disease / 0.994
c.3577G>C / DV / A1193P / conservative / 17 / ATP loop / 1 / 0.01 / 0.869 / Disease / 0.965
c.3599A>C / DV / Q1200P / non-conservative / 17 / ATP loop / 0 / 1.00 / 0.945 / Neutral / 0.236
c.3620A>G / NDV / H1207R / conservative / 17 / ATP loop / 0.044 / 0.13 / 0.895 / Neutral / 0.452
c.3625C>A / NDV / L1209M / conservative / 17 / ATP loop / 1 / 0.00 / 0.991 / Disease / 0.998
c.3638G>T / DV / G1213V / conservative / 17 / ATP bind / 1 / 0.00 / 0.997 / Disease / 0.999
c.3643G>T / DV / D1215Y / non-conservative / 17 / ATP bind / 1 / 0.00 / 0.926 / Disease / 0.982
c.3646G>A / DV / V1216M / conservative / 17 / ATP bind / 1 / 0.00 / 0.993 / Disease / 0.998
c.3659C>T / DV / T1220M / non-conservative / 17 / ATP bind / 1 / 0.00 / 0.999 / Disease / 1.000
c.3662G>A / DV / G1221E / non-conservative / 17 / ATP bind / 1 / 0.00 / 0.987 / Disease / 0.997
c.3664G>A / DV / D1222N / non-conservative / 17 / ATP bind / 1 / 0.00 / 0.997 / Disease / 0.999
c.3664G>T / DV / D1222Y / non-conservative / 17 / ATP bind / 1 / 0.00 / 1 / Disease / 1.000
c.3665A>T / DV / D1222V / non-conservative / 17 / ATP bind / 1 / 0.00 / 0.998 / Disease / 1.000
c.3683G>C / DV / R1228T / non-conservative / 17 / ATP bind / 0.661 / 0.40 / 0.863 / Neutral / 0.531
c.3688A>G / DV / I1230V / conservative / 17 / ATP bind / 0.972 / 0.24 / 0.804 / Neutral / 0.634
c.3694A>C / DV / T1232P / non-conservative / 17 / ATP bind / 0.933 / 0.10 / 0.967 / Disease / 0.950
c.3707T>C / DV / I1236T / non-conservative / 18 / ATP bind / 1 / 0.00 / 0.994 / Disease / 0.999
c.3715G>T / NDV / V1239F / conservative / 18 / ATP bind / 1 / 0.00 / 0.978 / Disease / 0.995
c.3716T>G / DV / V1239G / conservative / 18 / ATP bind / 1 / 0.00 / 0.951 / Disease / 0.988
c.3722C>T / DV / A1241V / conservative / 18 / ATP hinge / 1 / 0.00 / 0.998 / Disease / 1.000
c.3727G>A / NDV / V1243M / conservative / 18 / ATP hinge / 1 / 0.00 / 0.793 / Disease / 0.948
c.3733C>T / NDV / P1245S / non-conservative / 18 / ATP hinge / 1 / 0.02 / 0.996 / Disease / 0.994
c.3733C>A / DV / P1245T / non-conservative / 18 / ATP hinge / 1 / 0.00 / 0.987 / Disease / 0.997
c.3744G>C / DV / K1248N / non-conservative / 18 / ATP hinge / 1 / 0.00 / 0.992 / Disease / 0.998
c.3754G>A / DV / V1252I / conservative / 18 / ATP hinge / 0.994 / 0.77 / 0.864 / Neutral / 0.522
c.3763C>A / DV / L1255I / conservative / 18 / ATP hinge / 1 / 0.19 / 0.939 / Disease / 0.937
c.3767A>G / DV / Q1256R / non-conservative / 18 / ATP hinge / 1 / 0.00 / 0.917 / Disease / 0.979
c.3784G>T / DV / V1262F / conservative / 18 / ATP hinge / 1 / 0.00 / 0.997 / Disease / 0.999
c.3796G>A / DV / G1266R / non-conservative / 18 / ATP hinge / 1 / 0.00 / 1 / Disease / 1.000
c.3796_3797GG>AA / DV / G1266K / non-conservative / 18 / ATP hinge / 0.998 / 0.00 / 1 / Disease / 1.000
c.3797G>T / DV / G1266V / conservative / 18 / ATP hinge / 1 / 0.00 / 1 / Disease / 1.000
c.3800A>C / DV / D1267A / non-conservative / 18 / ATP hinge / 1 / 0.00 / 0.999 / Disease / 1.000
c.3800A>T / DV / D1267V / non-conservative / 18 / ATP hinge / 1 / 0.00 / 1 / Disease / 1.000
c.3802G>A / DV / G1268R / non-conservative / 18 / ATP hinge / 1 / 0.00 / 1 / Disease / 1.000
c.3809A>C / DV / N1270T / conservative / 18 / ATP hinge / 1 / 0.00 / 0.999 / Disease / 1.000
c.3809A>G / DV / N1270S / conservative / 18 / ATP hinge / 1 / 0.00 / 0.999 / Disease / 1.000
c.3811G>A / DV / D1271N / non-conservative / 18 / ATP hinge / 1 / 0.00 / 1 / Disease / 1.000
c.3813C>A / NDV / D1271E / conservative / 18 / ATP hinge / 1 / 0.00 / 1 / Disease / 1.000
c.3817C>T / DV / P1273S / non-conservative / 18 / ATP hinge / 1 / 0.00 / 0.975 / Disease / 0.994
c.3818C>T / DV / P1273L / conservative / 18 / ATP hinge / 1 / 0.00 / 0.975 / Disease / 0.994
c.3818C>A / DV / P1273Q / non-conservative / 18 / ATP hinge / 1 / 0.00 / 0.98 / Disease / 0.995
c.3833C>T / DV / A1278V / conservative / 18 / ATP hinge / 1 / 0.00 / 0.998 / Disease / 1.000
c.3835G>T / DV / D1279Y / non-conservative / 18 / ATP hinge / 1 / 0.00 / 0.999 / Disease / 1.000
c.3836A>G / DV / D1279G / non-conservative / 18 / ATP hinge / 0.999 / 0.01 / 0.997 / Disease / 0.997
c.3841G>T / DV / G1281C / non-conservative / 18 / ATP hinge / 1 / 0.00 / 0.999 / Disease / 1.000
c.3842G>A / DV / G1281D / non-conservative / 18 / ATP hinge / 1 / 0.00 / 1 / Disease / 1.000
c.3859G>A / DV / G1287S / non-conservative / 18 / ATP hinge / 1 / 0.00 / 0.991 / Disease / 0.998
c.3863C>G / DV / T1288R / non-conservative / 18 / ATP hinge / 1 / 0.00 / 0.989 / Disease / 0.997
c.3863C>T / DV / T1288M / non-conservative / 18 / ATP hinge / 1 / 0.00 / 0.997 / Disease / 0.999
c.3886G>A / DV / D1296N / non-conservative / 18 / between ATP hinge/TM7 / 1 / 0.01 / 0.96 / Disease / 0.988
c.3889G>A / NDV / V1297I / conservative / 18 / between ATP hinge/TM7 / 0.871 / 0.53 / 0.869 / Neutral / 0.553
c.3890T>A / DV / V1297D / non-conservative / 18 / between ATP hinge/TM7 / 1 / 0.00 / 0.993 / Disease / 0.998
c.3895C>T / DV / L1299F / conservative / 18 / between ATP hinge/TM7 / 0.973 / 0.01 / 0.974 / Disease / 0.984
c.3914T>C / DV / L1305P / conservative / 19 / between ATP hinge/TM7 / 1 / 0.00 / 0.971 / Disease / 0.993
c.3928A>C / DV / S1310R / non-conservative / 19 / between ATP hinge/TM7 / 0.971 / 0.02 / 0.974 / Disease / 0.981
c.3960G>C / DV / R1320S / conservative / 19 / between ATP hinge/TM7 / 1 / 0.00 / 0.772 / Disease / 0.943
c.3965G>C / DV / R1322P / non-conservative / 19 / between ATP hinge/TM7 / 0.996 / 0.00 / 0.983 / Disease / 0.995
c.3979C>G / DV / L1327V / conservative / 19 / TM7 / 0.948 / 0.00 / 0.911 / Disease / 0.965
c.3982G>A / DV / A1328T / non-conservative / 19 / TM7 / 1 / 0.00 / 0.806 / Neutral / 0.702
c.3992A>C / DV / Y1331S / conservative / 19 / TM7 / 1 / 0.00 / 0.773 / Disease / 0.943
c.3994A>G / DV / N1332D / non-conservative / 19 / TM7 / 1 / 0.00 / 0.978 / Disease / 0.995
c.3996C>A / DV / N1332K / conservative / 19 / TM7 / 1 / 0.00 / 0.96 / Disease / 0.990
c.4001T>A / DV / V1334D / non-conservative / 19 / TM7 / 0.987 / 0.00 / 0.996 / Disease / 0.996
c.4007T>C / DV / I1336T / non-conservative / 19 / TM7 / 0.998 / 0.00 / 0.95 / Disease / 0.987
c.4021G>A / DV / G1341S / non-conservative / 19 / TM7 / 1 / 0.00 / 0.883 / Disease / 0.971
c.4021G>C / DV / G1341R / non-conservative / 19 / TM7 / 1 / 0.00 / 0.973 / Disease / 0.993
c.4022G>A / DV / G1341D / non-conservative / 20 / TM7 / 1 / 0.00 / 0.995 / Disease / 0.999
c.4022G>T / DV / G1341V / conservative / 20 / TM7 / 1 / 0.00 / 0.71 / Disease / 0.928
c.4054C>T / DV / P1352S / conservative / 20 / TM8 / 1 / 0.00 / 0.736 / Disease / 0.934
c.4055C>T / DV / P1352L / conservative / 20 / TM8 / 1 / 0.00 / 0.727 / Disease / 0.932
c.4055C>G / DV / P1352R / non-conservative / 20 / TM8 / 1 / 0.00 / 0.977 / Disease / 0.994
c.4057T>C/A / DV / W1353R / non-conservative / 20 / TM8 / 1 / 0.00 / 0.958 / Disease / 0.990
c.4063G>A / DV / G1355S / non-conservative / 20 / TM8 / 1 / 0.10 / 0.717 / Disease / 0.904
c.4072G>T / DV / A1358S / non-conservative / 20 / TM8 / 1 / 0.00 / 0.927 / Disease / 0.982
c.4077G>C / DV / M1359I / conservative / 20 / TM8 / 1 / 0.00 / 0.744 / Disease / 0.936
c.4088C>T / DV / S1363F / non-conservative / 20 / TM8 / 1 / 0.00 / 0.994 / Disease / 0.999
c.4103T>C / DV / L1368P / conservative / 20 / TM8 / 1 / 0.25 / 0.985 / Disease / 0.934
c.4106C>T / DV / S1369L / non-conservative / 20 / TM8 / 1 / 0.00 / 0.819 / Disease / 0.955
c.4112T>C / DV / L1371P / conservative / 20 / TM8 / 1 / 0.01 / 0.979 / Disease / 0.992
c.4118T>C / DV / L1373P / conservative / 20 / TM8 / 1 / 0.00 / 0.989 / Disease / 0.997
c.4118T>G / DV / L1373R / non-conservative / 20 / TM8 / 1 / 0.00 / 0.98 / Disease / 0.995
c.4124G>C / DV / C1375S / conservative / 20 / TM8 / 0.57 / 0.07 / 0.95 / Disease / 0.863
c.4135C>T / DV / P1379S / non-conservative / 21 / after TM8 / 0.999 / 0.00 / 0.956 / Disease / 0.989
c.4175T>G / NDV / M1392R / non-conservative / 21 / after TM8 / 0.001 / 0.85 / 0.748 / Neutral / 0.225
c.4196A>G / DV / Q1399R / non-conservative / 21 / after TM8 / 0.945 / 0.16 / 0.897 / Neutral / 0.671
c.4213G>A / NDV / G1405S / non-conservative / 21 / after TM8 / 1 / 0.00 / 0.852 / Disease / 0.963
c.4221T>A / NDV / D1407E / conservative / 21 / after TM8 / 0.533 / 0.14 / 0.737 / Neutral / 0.533
c.4231C>T / NDV / R1411W / non-conservative / 21 / after TM8 / 0.078 / 0.02 / 0.874 / Neutral / 0.483
c.4301C>T / DV / T1434M / non-conservative / 21 / 3COOH / 0.888 / 0.27 / NA / Neutral / 0.539
c.4319G>T / NDV / R1440L / non-conservative / 21 / 3COOH / 0.019 / 0.73 / NA / Neutral / 0.096
c.4388A>C / NDV / Q1463P / non-conservative / 21 / 3COOH / 0.999 / 0.04 / NA / Disease / 0.986