Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51944100_51944142delCA2695218736ATP7Bc.*894-1576_*894-1534del (n.*894-1576_*894-1534del)
c.*1966_*1987+21del
c.2601_2622+21del
c.3222_3243+21del
c.2889_2910+21del
c.2970_2991+21del
c.2988_3009+21del
n.3361_3382+21del
n.3585_3606+21del
c.2157_2178+21del
c.1932_1953+21del
c.3027_3048+21del
c.1022-1576_1022-1534del
c.*323_*344+21del
n.3966_3987+21del
n.2567_2588+21del
c.3078_3099+21del
c.3126_3147+21del
c.3186_3207+21del
c.2736_2757+21del
c.1038_1059+21del
c.877-1576_877-1534del (n.877-1576_877-1534del)
c.3087_3108+21del
c.3061-1576_3061-1534del (n.3061-1576_3061-1534del)
c.2808_2829+21del
c.2731-1576_2731-1534del (n.2731-1576_2731-1534del)
c.1890_1911+21del
n.3441_3462+21del
13g.51944132C>ACA388029829ATP7Bc.*894-1578G>T (n.*894-1578G>T)
c.*1964G>T (n.*1964G>T)
c.2599G>T (p.Ala867Ser)
c.3220G>T (p.Ala1074Ser)
c.2887G>T (p.Ala963Ser)
c.2968G>T (p.Ala990Ser)
c.2986G>T (p.Ala996Ser)
n.3359G>T
n.3583G>T
c.2155G>T (p.Ala719Ser)
c.1930G>T (p.Ala644Ser)
c.3025G>T (p.Ala1009Ser)
n.440G>T
c.1022-1578G>T
c.*321G>T (n.*321G>T)
n.3964G>T
n.2565G>T
c.3076G>T (p.Ala1026Ser)
c.3124G>T (p.Ala1042Ser)
c.3184G>T (p.Ala1062Ser)
c.2734G>T (p.Ala912Ser)
c.1036G>T (p.Ala346Ser)
c.877-1578G>T (n.877-1578G>T)
c.3085G>T (p.Ala1029Ser)
c.3061-1578G>T (n.3061-1578G>T)
c.2806G>T (p.Ala936Ser)
c.2731-1578G>T (n.2731-1578G>T)
c.1888G>T (p.Ala630Ser)
n.3439G>T
 gnomAD v4
13g.51944132C=CA2091563714ATP7Bc.*894-1578G= (n.*894-1578G=)
c.*1964G= (n.*1964G=)
c.2599G= (p.Ala867=)
c.3220G= (p.Ala1074=)
c.2887G= (p.Ala963=)
c.2968G= (p.Ala990=)
c.2986G= (p.Ala996=)
n.3359G=
n.3583G=
c.2155G= (p.Ala719=)
c.1930G= (p.Ala644=)
c.3025G= (p.Ala1009=)
n.440G=
c.1022-1578G=
c.*321G= (n.*321G=)
n.3964G=
n.2565G=
c.3076G= (p.Ala1026=)
c.3124G= (p.Ala1042=)
c.3184G= (p.Ala1062=)
c.2734G= (p.Ala912=)
c.1036G= (p.Ala346=)
c.877-1578G= (n.877-1578G=)
c.3085G= (p.Ala1029=)
c.3061-1578G= (n.3061-1578G=)
c.2806G= (p.Ala936=)
c.2731-1578G= (n.2731-1578G=)
c.1888G= (p.Ala630=)
n.3439G=
13g.51944132C>GCA388029830ATP7Bc.*894-1578G>C (n.*894-1578G>C)
c.*1964G>C (n.*1964G>C)
c.2599G>C (p.Ala867Pro)
c.3220G>C (p.Ala1074Pro)
c.2887G>C (p.Ala963Pro)
c.2968G>C (p.Ala990Pro)
c.2986G>C (p.Ala996Pro)
n.3359G>C
n.3583G>C
c.2155G>C (p.Ala719Pro)
c.1930G>C (p.Ala644Pro)
c.3025G>C (p.Ala1009Pro)
n.440G>C
c.1022-1578G>C
c.*321G>C (n.*321G>C)
n.3964G>C
n.2565G>C
c.3076G>C (p.Ala1026Pro)
c.3124G>C (p.Ala1042Pro)
c.3184G>C (p.Ala1062Pro)
c.2734G>C (p.Ala912Pro)
c.1036G>C (p.Ala346Pro)
c.877-1578G>C (n.877-1578G>C)
c.3085G>C (p.Ala1029Pro)
c.3061-1578G>C (n.3061-1578G>C)
c.2806G>C (p.Ala936Pro)
c.2731-1578G>C (n.2731-1578G>C)
c.1888G>C (p.Ala630Pro)
n.3439G>C
13g.51944132C>TCA388029831ATP7Bc.*894-1578G>A (n.*894-1578G>A)
c.*1964G>A (n.*1964G>A)
c.2599G>A (p.Ala867Thr)
c.3220G>A (p.Ala1074Thr)
c.2887G>A (p.Ala963Thr)
c.2968G>A (p.Ala990Thr)
c.2986G>A (p.Ala996Thr)
n.3359G>A
n.3583G>A
c.2155G>A (p.Ala719Thr)
c.1930G>A (p.Ala644Thr)
c.3025G>A (p.Ala1009Thr)
n.440G>A
c.1022-1578G>A
c.*321G>A (n.*321G>A)
n.3964G>A
n.2565G>A
c.3076G>A (p.Ala1026Thr)
c.3124G>A (p.Ala1042Thr)
c.3184G>A (p.Ala1062Thr)
c.2734G>A (p.Ala912Thr)
c.1036G>A (p.Ala346Thr)
c.877-1578G>A (n.877-1578G>A)
c.3085G>A (p.Ala1029Thr)
c.3061-1578G>A (n.3061-1578G>A)
c.2806G>A (p.Ala936Thr)
c.2731-1578G>A (n.2731-1578G>A)
c.1888G>A (p.Ala630Thr)
n.3439G>A
 ClinVar dbSNP gnomAD v4 COSMIC
13g.51944133C>ACA483894633ATP7Bc.*894-1579G>T (n.*894-1579G>T)
c.*1963G>T (n.*1963G>T)
c.2598G>T (p.Val866=)
c.3219G>T (p.Val1073=)
c.2886G>T (p.Val962=)
c.2967G>T (p.Val989=)
c.2985G>T (p.Val995=)
n.3358G>T
n.3582G>T
c.2154G>T (p.Val718=)
c.1929G>T (p.Val643=)
c.3024G>T (p.Val1008=)
n.439G>T
c.1022-1579G>T
c.*320G>T (n.*320G>T)
n.3963G>T
n.2564G>T
c.3075G>T (p.Val1025=)
c.3123G>T (p.Val1041=)
c.3183G>T (p.Val1061=)
c.2733G>T (p.Val911=)
c.1035G>T (p.Val345=)
c.877-1579G>T (n.877-1579G>T)
c.3084G>T (p.Val1028=)
c.3061-1579G>T (n.3061-1579G>T)
c.2805G>T (p.Val935=)
c.2731-1579G>T (n.2731-1579G>T)
c.1887G>T (p.Val629=)
n.3438G>T
13g.51944133C=CA2091563719ATP7Bc.*894-1579G= (n.*894-1579G=)
c.*1963G= (n.*1963G=)
c.2598G= (p.Val866=)
c.3219G= (p.Val1073=)
c.2886G= (p.Val962=)
c.2967G= (p.Val989=)
c.2985G= (p.Val995=)
n.3358G=
n.3582G=
c.2154G= (p.Val718=)
c.1929G= (p.Val643=)
c.3024G= (p.Val1008=)
n.439G=
c.1022-1579G=
c.*320G= (n.*320G=)
n.3963G=
n.2564G=
c.3075G= (p.Val1025=)
c.3123G= (p.Val1041=)
c.3183G= (p.Val1061=)
c.2733G= (p.Val911=)
c.1035G= (p.Val345=)
c.877-1579G= (n.877-1579G=)
c.3084G= (p.Val1028=)
c.3061-1579G= (n.3061-1579G=)
c.2805G= (p.Val935=)
c.2731-1579G= (n.2731-1579G=)
c.1887G= (p.Val629=)
n.3438G=
13g.51944133C>GCA483894634ATP7Bc.*894-1579G>C (n.*894-1579G>C)
c.*1963G>C (n.*1963G>C)
c.2598G>C (p.Val866=)
c.3219G>C (p.Val1073=)
c.2886G>C (p.Val962=)
c.2967G>C (p.Val989=)
c.2985G>C (p.Val995=)
n.3358G>C
n.3582G>C
c.2154G>C (p.Val718=)
c.1929G>C (p.Val643=)
c.3024G>C (p.Val1008=)
n.439G>C
c.1022-1579G>C
c.*320G>C (n.*320G>C)
n.3963G>C
n.2564G>C
c.3075G>C (p.Val1025=)
c.3123G>C (p.Val1041=)
c.3183G>C (p.Val1061=)
c.2733G>C (p.Val911=)
c.1035G>C (p.Val345=)
c.877-1579G>C (n.877-1579G>C)
c.3084G>C (p.Val1028=)
c.3061-1579G>C (n.3061-1579G>C)
c.2805G>C (p.Val935=)
c.2731-1579G>C (n.2731-1579G>C)
c.1887G>C (p.Val629=)
n.3438G>C
 dbSNP gnomAD v3 gnomAD v4
13g.51944133C>TCA483894635ATP7Bc.*894-1579G>A (n.*894-1579G>A)
c.*1963G>A (n.*1963G>A)
c.2598G>A (p.Val866=)
c.3219G>A (p.Val1073=)
c.2886G>A (p.Val962=)
c.2967G>A (p.Val989=)
c.2985G>A (p.Val995=)
n.3358G>A
n.3582G>A
c.2154G>A (p.Val718=)
c.1929G>A (p.Val643=)
c.3024G>A (p.Val1008=)
n.439G>A
c.1022-1579G>A
c.*320G>A (n.*320G>A)
n.3963G>A
n.2564G>A
c.3075G>A (p.Val1025=)
c.3123G>A (p.Val1041=)
c.3183G>A (p.Val1061=)
c.2733G>A (p.Val911=)
c.1035G>A (p.Val345=)
c.877-1579G>A (n.877-1579G>A)
c.3084G>A (p.Val1028=)
c.3061-1579G>A (n.3061-1579G>A)
c.2805G>A (p.Val935=)
c.2731-1579G>A (n.2731-1579G>A)
c.1887G>A (p.Val629=)
n.3438G>A
13g.51944134A=CA2091563724ATP7Bc.*894-1580T= (n.*894-1580T=)
c.*1962T= (n.*1962T=)
c.2597T= (p.Val866=)
c.3218T= (p.Val1073=)
c.2885T= (p.Val962=)
c.2966T= (p.Val989=)
c.2984T= (p.Val995=)
n.3357T=
n.3581T=
c.2153T= (p.Val718=)
c.1928T= (p.Val643=)
c.3023T= (p.Val1008=)
n.438T=
c.1022-1580T=
c.*319T= (n.*319T=)
n.3962T=
n.2563T=
c.3074T= (p.Val1025=)
c.3122T= (p.Val1041=)
c.3182T= (p.Val1061=)
c.2732T= (p.Val911=)
c.1034T= (p.Val345=)
c.877-1580T= (n.877-1580T=)
c.3083T= (p.Val1028=)
c.3061-1580T= (n.3061-1580T=)
c.2804T= (p.Val935=)
c.2731-1580T= (n.2731-1580T=)
c.1886T= (p.Val629=)
n.3437T=
13g.51944134A>CCA388029832ATP7Bc.*894-1580T>G (n.*894-1580T>G)
c.*1962T>G (n.*1962T>G)
c.2597T>G (p.Val866Gly)
c.3218T>G (p.Val1073Gly)
c.2885T>G (p.Val962Gly)
c.2966T>G (p.Val989Gly)
c.2984T>G (p.Val995Gly)
n.3357T>G
n.3581T>G
c.2153T>G (p.Val718Gly)
c.1928T>G (p.Val643Gly)
c.3023T>G (p.Val1008Gly)
n.438T>G
c.1022-1580T>G
c.*319T>G (n.*319T>G)
n.3962T>G
n.2563T>G
c.3074T>G (p.Val1025Gly)
c.3122T>G (p.Val1041Gly)
c.3182T>G (p.Val1061Gly)
c.2732T>G (p.Val911Gly)
c.1034T>G (p.Val345Gly)
c.877-1580T>G (n.877-1580T>G)
c.3083T>G (p.Val1028Gly)
c.3061-1580T>G (n.3061-1580T>G)
c.2804T>G (p.Val935Gly)
c.2731-1580T>G (n.2731-1580T>G)
c.1886T>G (p.Val629Gly)
n.3437T>G
13g.51944134A>GCA388029833ATP7Bc.*894-1580T>C (n.*894-1580T>C)
c.*1962T>C (n.*1962T>C)
c.2597T>C (p.Val866Ala)
c.3218T>C (p.Val1073Ala)
c.2885T>C (p.Val962Ala)
c.2966T>C (p.Val989Ala)
c.2984T>C (p.Val995Ala)
n.3357T>C
n.3581T>C
c.2153T>C (p.Val718Ala)
c.1928T>C (p.Val643Ala)
c.3023T>C (p.Val1008Ala)
n.438T>C
c.1022-1580T>C
c.*319T>C (n.*319T>C)
n.3962T>C
n.2563T>C
c.3074T>C (p.Val1025Ala)
c.3122T>C (p.Val1041Ala)
c.3182T>C (p.Val1061Ala)
c.2732T>C (p.Val911Ala)
c.1034T>C (p.Val345Ala)
c.877-1580T>C (n.877-1580T>C)
c.3083T>C (p.Val1028Ala)
c.3061-1580T>C (n.3061-1580T>C)
c.2804T>C (p.Val935Ala)
c.2731-1580T>C (n.2731-1580T>C)
c.1886T>C (p.Val629Ala)
n.3437T>C
 dbSNP gnomAD v2 gnomAD v4
13g.51944134A>TCA388029834ATP7Bc.*894-1580T>A (n.*894-1580T>A)
c.*1962T>A (n.*1962T>A)
c.2597T>A (p.Val866Glu)
c.3218T>A (p.Val1073Glu)
c.2885T>A (p.Val962Glu)
c.2966T>A (p.Val989Glu)
c.2984T>A (p.Val995Glu)
n.3357T>A
n.3581T>A
c.2153T>A (p.Val718Glu)
c.1928T>A (p.Val643Glu)
c.3023T>A (p.Val1008Glu)
n.438T>A
c.1022-1580T>A
c.*319T>A (n.*319T>A)
n.3962T>A
n.2563T>A
c.3074T>A (p.Val1025Glu)
c.3122T>A (p.Val1041Glu)
c.3182T>A (p.Val1061Glu)
c.2732T>A (p.Val911Glu)
c.1034T>A (p.Val345Glu)
c.877-1580T>A (n.877-1580T>A)
c.3083T>A (p.Val1028Glu)
c.3061-1580T>A (n.3061-1580T>A)
c.2804T>A (p.Val935Glu)
c.2731-1580T>A (n.2731-1580T>A)
c.1886T>A (p.Val629Glu)
n.3437T>A
13g.51944135C>ACA388029837ATP7Bc.*894-1581G>T (n.*894-1581G>T)
c.*1961G>T (n.*1961G>T)
c.2596G>T (p.Val866Leu)
c.3217G>T (p.Val1073Leu)
c.2884G>T (p.Val962Leu)
c.2965G>T (p.Val989Leu)
c.2983G>T (p.Val995Leu)
n.3356G>T
n.3580G>T
c.2152G>T (p.Val718Leu)
c.1927G>T (p.Val643Leu)
c.3022G>T (p.Val1008Leu)
n.437G>T
c.1022-1581G>T
c.*318G>T (n.*318G>T)
n.3961G>T
n.2562G>T
c.3073G>T (p.Val1025Leu)
c.3121G>T (p.Val1041Leu)
c.3181G>T (p.Val1061Leu)
c.2731G>T (p.Val911Leu)
c.1033G>T (p.Val345Leu)
c.877-1581G>T (n.877-1581G>T)
c.3082G>T (p.Val1028Leu)
c.3061-1581G>T (n.3061-1581G>T)
c.2803G>T (p.Val935Leu)
c.2731-1581G>T (n.2731-1581G>T)
c.1885G>T (p.Val629Leu)
n.3436G>T
13g.51944135C=CA2091563731ATP7Bc.*894-1581G= (n.*894-1581G=)
c.*1961G= (n.*1961G=)
c.2596G= (p.Val866=)
c.3217G= (p.Val1073=)
c.2884G= (p.Val962=)
c.2965G= (p.Val989=)
c.2983G= (p.Val995=)
n.3356G=
n.3580G=
c.2152G= (p.Val718=)
c.1927G= (p.Val643=)
c.3022G= (p.Val1008=)
n.437G=
c.1022-1581G=
c.*318G= (n.*318G=)
n.3961G=
n.2562G=
c.3073G= (p.Val1025=)
c.3121G= (p.Val1041=)
c.3181G= (p.Val1061=)
c.2731G= (p.Val911=)
c.1033G= (p.Val345=)
c.877-1581G= (n.877-1581G=)
c.3082G= (p.Val1028=)
c.3061-1581G= (n.3061-1581G=)
c.2803G= (p.Val935=)
c.2731-1581G= (n.2731-1581G=)
c.1885G= (p.Val629=)
n.3436G=
13g.51944135C>GCA388029838ATP7Bc.*894-1581G>C (n.*894-1581G>C)
c.*1961G>C (n.*1961G>C)
c.2596G>C (p.Val866Leu)
c.3217G>C (p.Val1073Leu)
c.2884G>C (p.Val962Leu)
c.2965G>C (p.Val989Leu)
c.2983G>C (p.Val995Leu)
n.3356G>C
n.3580G>C
c.2152G>C (p.Val718Leu)
c.1927G>C (p.Val643Leu)
c.3022G>C (p.Val1008Leu)
n.437G>C
c.1022-1581G>C
c.*318G>C (n.*318G>C)
n.3961G>C
n.2562G>C
c.3073G>C (p.Val1025Leu)
c.3121G>C (p.Val1041Leu)
c.3181G>C (p.Val1061Leu)
c.2731G>C (p.Val911Leu)
c.1033G>C (p.Val345Leu)
c.877-1581G>C (n.877-1581G>C)
c.3082G>C (p.Val1028Leu)
c.3061-1581G>C (n.3061-1581G>C)
c.2803G>C (p.Val935Leu)
c.2731-1581G>C (n.2731-1581G>C)
c.1885G>C (p.Val629Leu)
n.3436G>C
13g.51944135C>TCA6988778ATP7Bc.*894-1581G>A (n.*894-1581G>A)
c.*1961G>A (n.*1961G>A)
c.2596G>A (p.Val866Met)
c.3217G>A (p.Val1073Met)
c.2884G>A (p.Val962Met)
c.2965G>A (p.Val989Met)
c.2983G>A (p.Val995Met)
n.3356G>A
n.3580G>A
c.2152G>A (p.Val718Met)
c.1927G>A (p.Val643Met)
c.3022G>A (p.Val1008Met)
n.437G>A
c.1022-1581G>A
c.*318G>A (n.*318G>A)
n.3961G>A
n.2562G>A
c.3073G>A (p.Val1025Met)
c.3121G>A (p.Val1041Met)
c.3181G>A (p.Val1061Met)
c.2731G>A (p.Val911Met)
c.1033G>A (p.Val345Met)
c.877-1581G>A (n.877-1581G>A)
c.3082G>A (p.Val1028Met)
c.3061-1581G>A (n.3061-1581G>A)
c.2803G>A (p.Val935Met)
c.2731-1581G>A (n.2731-1581G>A)
c.1885G>A (p.Val629Met)
n.3436G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944136G>ACA250080053ATP7Bc.*894-1582C>T (n.*894-1582C>T)
c.*1960C>T (n.*1960C>T)
c.2595C>T (p.Gly865=)
c.3216C>T (p.Gly1072=)
c.2883C>T (p.Gly961=)
c.2964C>T (p.Gly988=)
c.2982C>T (p.Gly994=)
n.3355C>T
n.3579C>T
c.2151C>T (p.Gly717=)
c.1926C>T (p.Gly642=)
c.3021C>T (p.Gly1007=)
n.436C>T
c.1022-1582C>T
c.*317C>T (n.*317C>T)
n.3960C>T
n.2561C>T
c.3072C>T (p.Gly1024=)
c.3120C>T (p.Gly1040=)
c.3180C>T (p.Gly1060=)
c.2730C>T (p.Gly910=)
c.1032C>T (p.Gly344=)
c.877-1582C>T (n.877-1582C>T)
c.3081C>T (p.Gly1027=)
c.3061-1582C>T (n.3061-1582C>T)
c.2802C>T (p.Gly934=)
c.2731-1582C>T (n.2731-1582C>T)
c.1884C>T (p.Gly628=)
n.3435C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51944136G>CCA483894637ATP7Bc.*894-1582C>G (n.*894-1582C>G)
c.*1960C>G (n.*1960C>G)
c.2595C>G (p.Gly865=)
c.3216C>G (p.Gly1072=)
c.2883C>G (p.Gly961=)
c.2964C>G (p.Gly988=)
c.2982C>G (p.Gly994=)
n.3355C>G
n.3579C>G
c.2151C>G (p.Gly717=)
c.1926C>G (p.Gly642=)
c.3021C>G (p.Gly1007=)
n.436C>G
c.1022-1582C>G
c.*317C>G (n.*317C>G)
n.3960C>G
n.2561C>G
c.3072C>G (p.Gly1024=)
c.3120C>G (p.Gly1040=)
c.3180C>G (p.Gly1060=)
c.2730C>G (p.Gly910=)
c.1032C>G (p.Gly344=)
c.877-1582C>G (n.877-1582C>G)
c.3081C>G (p.Gly1027=)
c.3061-1582C>G (n.3061-1582C>G)
c.2802C>G (p.Gly934=)
c.2731-1582C>G (n.2731-1582C>G)
c.1884C>G (p.Gly628=)
n.3435C>G
13g.51944136G=CA2091563735ATP7Bc.*894-1582C= (n.*894-1582C=)
c.*1960C= (n.*1960C=)
c.2595C= (p.Gly865=)
c.3216C= (p.Gly1072=)
c.2883C= (p.Gly961=)
c.2964C= (p.Gly988=)
c.2982C= (p.Gly994=)
n.3355C=
n.3579C=
c.2151C= (p.Gly717=)
c.1926C= (p.Gly642=)
c.3021C= (p.Gly1007=)
n.436C=
c.1022-1582C=
c.*317C= (n.*317C=)
n.3960C=
n.2561C=
c.3072C= (p.Gly1024=)
c.3120C= (p.Gly1040=)
c.3180C= (p.Gly1060=)
c.2730C= (p.Gly910=)
c.1032C= (p.Gly344=)
c.877-1582C= (n.877-1582C=)
c.3081C= (p.Gly1027=)
c.3061-1582C= (n.3061-1582C=)
c.2802C= (p.Gly934=)
c.2731-1582C= (n.2731-1582C=)
c.1884C= (p.Gly628=)
n.3435C=
13g.51944136G>TCA483894638ATP7Bc.*894-1582C>A (n.*894-1582C>A)
c.*1960C>A (n.*1960C>A)
c.2595C>A (p.Gly865=)
c.3216C>A (p.Gly1072=)
c.2883C>A (p.Gly961=)
c.2964C>A (p.Gly988=)
c.2982C>A (p.Gly994=)
n.3355C>A
n.3579C>A
c.2151C>A (p.Gly717=)
c.1926C>A (p.Gly642=)
c.3021C>A (p.Gly1007=)
n.436C>A
c.1022-1582C>A
c.*317C>A (n.*317C>A)
n.3960C>A
n.2561C>A
c.3072C>A (p.Gly1024=)
c.3120C>A (p.Gly1040=)
c.3180C>A (p.Gly1060=)
c.2730C>A (p.Gly910=)
c.1032C>A (p.Gly344=)
c.877-1582C>A (n.877-1582C>A)
c.3081C>A (p.Gly1027=)
c.3061-1582C>A (n.3061-1582C>A)
c.2802C>A (p.Gly934=)
c.2731-1582C>A (n.2731-1582C>A)
c.1884C>A (p.Gly628=)
n.3435C>A
 ClinVar dbSNP gnomAD v4
13g.51944137C>ACA388029843ATP7Bc.*894-1583G>T (n.*894-1583G>T)
c.*1959G>T (n.*1959G>T)
c.2594G>T (p.Gly865Val)
c.3215G>T (p.Gly1072Val)
c.2882G>T (p.Gly961Val)
c.2963G>T (p.Gly988Val)
c.2981G>T (p.Gly994Val)
n.3354G>T
n.3578G>T
c.2150G>T (p.Gly717Val)
c.1925G>T (p.Gly642Val)
c.3020G>T (p.Gly1007Val)
n.435G>T
c.1022-1583G>T
c.*316G>T (n.*316G>T)
n.3959G>T
n.2560G>T
c.3071G>T (p.Gly1024Val)
c.3119G>T (p.Gly1040Val)
c.3179G>T (p.Gly1060Val)
c.2729G>T (p.Gly910Val)
c.1031G>T (p.Gly344Val)
c.877-1583G>T (n.877-1583G>T)
c.3080G>T (p.Gly1027Val)
c.3061-1583G>T (n.3061-1583G>T)
c.2801G>T (p.Gly934Val)
c.2731-1583G>T (n.2731-1583G>T)
c.1883G>T (p.Gly628Val)
n.3434G>T
13g.51944137C=CA2091563749ATP7Bc.*894-1583G= (n.*894-1583G=)
c.*1959G= (n.*1959G=)
c.2594G= (p.Gly865=)
c.3215G= (p.Gly1072=)
c.2882G= (p.Gly961=)
c.2963G= (p.Gly988=)
c.2981G= (p.Gly994=)
n.3354G=
n.3578G=
c.2150G= (p.Gly717=)
c.1925G= (p.Gly642=)
c.3020G= (p.Gly1007=)
n.435G=
c.1022-1583G=
c.*316G= (n.*316G=)
n.3959G=
n.2560G=
c.3071G= (p.Gly1024=)
c.3119G= (p.Gly1040=)
c.3179G= (p.Gly1060=)
c.2729G= (p.Gly910=)
c.1031G= (p.Gly344=)
c.877-1583G= (n.877-1583G=)
c.3080G= (p.Gly1027=)
c.3061-1583G= (n.3061-1583G=)
c.2801G= (p.Gly934=)
c.2731-1583G= (n.2731-1583G=)
c.1883G= (p.Gly628=)
n.3434G=
13g.51944137C>GCA388029841ATP7Bc.*894-1583G>C (n.*894-1583G>C)
c.*1959G>C (n.*1959G>C)
c.2594G>C (p.Gly865Ala)
c.3215G>C (p.Gly1072Ala)
c.2882G>C (p.Gly961Ala)
c.2963G>C (p.Gly988Ala)
c.2981G>C (p.Gly994Ala)
n.3354G>C
n.3578G>C
c.2150G>C (p.Gly717Ala)
c.1925G>C (p.Gly642Ala)
c.3020G>C (p.Gly1007Ala)
n.435G>C
c.1022-1583G>C
c.*316G>C (n.*316G>C)
n.3959G>C
n.2560G>C
c.3071G>C (p.Gly1024Ala)
c.3119G>C (p.Gly1040Ala)
c.3179G>C (p.Gly1060Ala)
c.2729G>C (p.Gly910Ala)
c.1031G>C (p.Gly344Ala)
c.877-1583G>C (n.877-1583G>C)
c.3080G>C (p.Gly1027Ala)
c.3061-1583G>C (n.3061-1583G>C)
c.2801G>C (p.Gly934Ala)
c.2731-1583G>C (n.2731-1583G>C)
c.1883G>C (p.Gly628Ala)
n.3434G>C
13g.51944137C>TCA388029839ATP7Bc.*894-1583G>A (n.*894-1583G>A)
c.*1959G>A (n.*1959G>A)
c.2594G>A (p.Gly865Asp)
c.3215G>A (p.Gly1072Asp)
c.2882G>A (p.Gly961Asp)
c.2963G>A (p.Gly988Asp)
c.2981G>A (p.Gly994Asp)
n.3354G>A
n.3578G>A
c.2150G>A (p.Gly717Asp)
c.1925G>A (p.Gly642Asp)
c.3020G>A (p.Gly1007Asp)
n.435G>A
c.1022-1583G>A
c.*316G>A (n.*316G>A)
n.3959G>A
n.2560G>A
c.3071G>A (p.Gly1024Asp)
c.3119G>A (p.Gly1040Asp)
c.3179G>A (p.Gly1060Asp)
c.2729G>A (p.Gly910Asp)
c.1031G>A (p.Gly344Asp)
c.877-1583G>A (n.877-1583G>A)
c.3080G>A (p.Gly1027Asp)
c.3061-1583G>A (n.3061-1583G>A)
c.2801G>A (p.Gly934Asp)
c.2731-1583G>A (n.2731-1583G>A)
c.1883G>A (p.Gly628Asp)
n.3434G>A
 ClinVar dbSNP gnomAD v2
13g.51944138C>ACA388029845ATP7Bc.*894-1584G>T (n.*894-1584G>T)
c.*1958G>T (n.*1958G>T)
c.2593G>T (p.Gly865Cys)
c.3214G>T (p.Gly1072Cys)
c.2881G>T (p.Gly961Cys)
c.2962G>T (p.Gly988Cys)
c.2980G>T (p.Gly994Cys)
n.3353G>T
n.3577G>T
c.2149G>T (p.Gly717Cys)
c.1924G>T (p.Gly642Cys)
c.3019G>T (p.Gly1007Cys)
n.434G>T
c.1022-1584G>T
c.*315G>T (n.*315G>T)
n.3958G>T
n.2559G>T
c.3070G>T (p.Gly1024Cys)
c.3118G>T (p.Gly1040Cys)
c.3178G>T (p.Gly1060Cys)
c.2728G>T (p.Gly910Cys)
c.1030G>T (p.Gly344Cys)
c.877-1584G>T (n.877-1584G>T)
c.3079G>T (p.Gly1027Cys)
c.3061-1584G>T (n.3061-1584G>T)
c.2800G>T (p.Gly934Cys)
c.2731-1584G>T (n.2731-1584G>T)
c.1882G>T (p.Gly628Cys)
n.3433G>T
13g.51944138C=CA2091563759ATP7Bc.*894-1584G= (n.*894-1584G=)
c.*1958G= (n.*1958G=)
c.2593G= (p.Gly865=)
c.3214G= (p.Gly1072=)
c.2881G= (p.Gly961=)
c.2962G= (p.Gly988=)
c.2980G= (p.Gly994=)
n.3353G=
n.3577G=
c.2149G= (p.Gly717=)
c.1924G= (p.Gly642=)
c.3019G= (p.Gly1007=)
n.434G=
c.1022-1584G=
c.*315G= (n.*315G=)
n.3958G=
n.2559G=
c.3070G= (p.Gly1024=)
c.3118G= (p.Gly1040=)
c.3178G= (p.Gly1060=)
c.2728G= (p.Gly910=)
c.1030G= (p.Gly344=)
c.877-1584G= (n.877-1584G=)
c.3079G= (p.Gly1027=)
c.3061-1584G= (n.3061-1584G=)
c.2800G= (p.Gly934=)
c.2731-1584G= (n.2731-1584G=)
c.1882G= (p.Gly628=)
n.3433G=
13g.51944138C>GCA388029846ATP7Bc.*894-1584G>C (n.*894-1584G>C)
c.*1958G>C (n.*1958G>C)
c.2593G>C (p.Gly865Arg)
c.3214G>C (p.Gly1072Arg)
c.2881G>C (p.Gly961Arg)
c.2962G>C (p.Gly988Arg)
c.2980G>C (p.Gly994Arg)
n.3353G>C
n.3577G>C
c.2149G>C (p.Gly717Arg)
c.1924G>C (p.Gly642Arg)
c.3019G>C (p.Gly1007Arg)
n.434G>C
c.1022-1584G>C
c.*315G>C (n.*315G>C)
n.3958G>C
n.2559G>C
c.3070G>C (p.Gly1024Arg)
c.3118G>C (p.Gly1040Arg)
c.3178G>C (p.Gly1060Arg)
c.2728G>C (p.Gly910Arg)
c.1030G>C (p.Gly344Arg)
c.877-1584G>C (n.877-1584G>C)
c.3079G>C (p.Gly1027Arg)
c.3061-1584G>C (n.3061-1584G>C)
c.2800G>C (p.Gly934Arg)
c.2731-1584G>C (n.2731-1584G>C)
c.1882G>C (p.Gly628Arg)
n.3433G>C
13g.51944138C>TCA388029847ATP7Bc.*894-1584G>A (n.*894-1584G>A)
c.*1958G>A (n.*1958G>A)
c.2593G>A (p.Gly865Ser)
c.3214G>A (p.Gly1072Ser)
c.2881G>A (p.Gly961Ser)
c.2962G>A (p.Gly988Ser)
c.2980G>A (p.Gly994Ser)
n.3353G>A
n.3577G>A
c.2149G>A (p.Gly717Ser)
c.1924G>A (p.Gly642Ser)
c.3019G>A (p.Gly1007Ser)
n.434G>A
c.1022-1584G>A
c.*315G>A (n.*315G>A)
n.3958G>A
n.2559G>A
c.3070G>A (p.Gly1024Ser)
c.3118G>A (p.Gly1040Ser)
c.3178G>A (p.Gly1060Ser)
c.2728G>A (p.Gly910Ser)
c.1030G>A (p.Gly344Ser)
c.877-1584G>A (n.877-1584G>A)
c.3079G>A (p.Gly1027Ser)
c.3061-1584G>A (n.3061-1584G>A)
c.2800G>A (p.Gly934Ser)
c.2731-1584G>A (n.2731-1584G>A)
c.1882G>A (p.Gly628Ser)
n.3433G>A
 dbSNP gnomAD v4
13g.51944139C>ACA388029848ATP7Bc.*894-1585G>T (n.*894-1585G>T)
c.*1957G>T (n.*1957G>T)
c.2592G>T (p.Leu864Phe)
c.3213G>T (p.Leu1071Phe)
c.2880G>T (p.Leu960Phe)
c.2961G>T (p.Leu987Phe)
c.2979G>T (p.Leu993Phe)
n.3352G>T
n.3576G>T
c.2148G>T (p.Leu716Phe)
c.1923G>T (p.Leu641Phe)
c.3018G>T (p.Leu1006Phe)
n.433G>T
c.1022-1585G>T
c.*314G>T (n.*314G>T)
n.3957G>T
n.2558G>T
c.3069G>T (p.Leu1023Phe)
c.3117G>T (p.Leu1039Phe)
c.3177G>T (p.Leu1059Phe)
c.2727G>T (p.Leu909Phe)
c.1029G>T (p.Leu343Phe)
c.877-1585G>T (n.877-1585G>T)
c.3078G>T (p.Leu1026Phe)
c.3061-1585G>T (n.3061-1585G>T)
c.2799G>T (p.Leu933Phe)
c.2731-1585G>T (n.2731-1585G>T)
c.1881G>T (p.Leu627Phe)
n.3432G>T
13g.51944139C>GCA388029850ATP7Bc.*894-1585G>C (n.*894-1585G>C)
c.*1957G>C (n.*1957G>C)
c.2592G>C (p.Leu864Phe)
c.3213G>C (p.Leu1071Phe)
c.2880G>C (p.Leu960Phe)
c.2961G>C (p.Leu987Phe)
c.2979G>C (p.Leu993Phe)
n.3352G>C
n.3576G>C
c.2148G>C (p.Leu716Phe)
c.1923G>C (p.Leu641Phe)
c.3018G>C (p.Leu1006Phe)
n.433G>C
c.1022-1585G>C
c.*314G>C (n.*314G>C)
n.3957G>C
n.2558G>C
c.3069G>C (p.Leu1023Phe)
c.3117G>C (p.Leu1039Phe)
c.3177G>C (p.Leu1059Phe)
c.2727G>C (p.Leu909Phe)
c.1029G>C (p.Leu343Phe)
c.877-1585G>C (n.877-1585G>C)
c.3078G>C (p.Leu1026Phe)
c.3061-1585G>C (n.3061-1585G>C)
c.2799G>C (p.Leu933Phe)
c.2731-1585G>C (n.2731-1585G>C)
c.1881G>C (p.Leu627Phe)
n.3432G>C
 gnomAD v4
13g.51944139C>TCA483894640ATP7Bc.*894-1585G>A (n.*894-1585G>A)
c.*1957G>A (n.*1957G>A)
c.2592G>A (p.Leu864=)
c.3213G>A (p.Leu1071=)
c.2880G>A (p.Leu960=)
c.2961G>A (p.Leu987=)
c.2979G>A (p.Leu993=)
n.3352G>A
n.3576G>A
c.2148G>A (p.Leu716=)
c.1923G>A (p.Leu641=)
c.3018G>A (p.Leu1006=)
n.433G>A
c.1022-1585G>A
c.*314G>A (n.*314G>A)
n.3957G>A
n.2558G>A
c.3069G>A (p.Leu1023=)
c.3117G>A (p.Leu1039=)
c.3177G>A (p.Leu1059=)
c.2727G>A (p.Leu909=)
c.1029G>A (p.Leu343=)
c.877-1585G>A (n.877-1585G>A)
c.3078G>A (p.Leu1026=)
c.3061-1585G>A (n.3061-1585G>A)
c.2799G>A (p.Leu933=)
c.2731-1585G>A (n.2731-1585G>A)
c.1881G>A (p.Leu627=)
n.3432G>A
13g.51944140A>CCA388029851ATP7Bc.*894-1586T>G (n.*894-1586T>G)
c.*1956T>G (n.*1956T>G)
c.2591T>G (p.Leu864Trp)
c.3212T>G (p.Leu1071Trp)
c.2879T>G (p.Leu960Trp)
c.2960T>G (p.Leu987Trp)
c.2978T>G (p.Leu993Trp)
n.3351T>G
n.3575T>G
c.2147T>G (p.Leu716Trp)
c.1922T>G (p.Leu641Trp)
c.3017T>G (p.Leu1006Trp)
n.432T>G
c.1022-1586T>G
c.*313T>G (n.*313T>G)
n.3956T>G
n.2557T>G
c.3068T>G (p.Leu1023Trp)
c.3116T>G (p.Leu1039Trp)
c.3176T>G (p.Leu1059Trp)
c.2726T>G (p.Leu909Trp)
c.1028T>G (p.Leu343Trp)
c.877-1586T>G (n.877-1586T>G)
c.3077T>G (p.Leu1026Trp)
c.3061-1586T>G (n.3061-1586T>G)
c.2798T>G (p.Leu933Trp)
c.2731-1586T>G (n.2731-1586T>G)
c.1880T>G (p.Leu627Trp)
n.3431T>G
13g.51944140A>GCA388029853ATP7Bc.*894-1586T>C (n.*894-1586T>C)
c.*1956T>C (n.*1956T>C)
c.2591T>C (p.Leu864Ser)
c.3212T>C (p.Leu1071Ser)
c.2879T>C (p.Leu960Ser)
c.2960T>C (p.Leu987Ser)
c.2978T>C (p.Leu993Ser)
n.3351T>C
n.3575T>C
c.2147T>C (p.Leu716Ser)
c.1922T>C (p.Leu641Ser)
c.3017T>C (p.Leu1006Ser)
n.432T>C
c.1022-1586T>C
c.*313T>C (n.*313T>C)
n.3956T>C
n.2557T>C
c.3068T>C (p.Leu1023Ser)
c.3116T>C (p.Leu1039Ser)
c.3176T>C (p.Leu1059Ser)
c.2726T>C (p.Leu909Ser)
c.1028T>C (p.Leu343Ser)
c.877-1586T>C (n.877-1586T>C)
c.3077T>C (p.Leu1026Ser)
c.3061-1586T>C (n.3061-1586T>C)
c.2798T>C (p.Leu933Ser)
c.2731-1586T>C (n.2731-1586T>C)
c.1880T>C (p.Leu627Ser)
n.3431T>C
13g.51944140A>TCA388029856ATP7Bc.*894-1586T>A (n.*894-1586T>A)
c.*1956T>A (n.*1956T>A)
c.2591T>A (p.Leu864Ter)
c.3212T>A (p.Leu1071Ter)
c.2879T>A (p.Leu960Ter)
c.2960T>A (p.Leu987Ter)
c.2978T>A (p.Leu993Ter)
n.3351T>A
n.3575T>A
c.2147T>A (p.Leu716Ter)
c.1922T>A (p.Leu641Ter)
c.3017T>A (p.Leu1006Ter)
n.432T>A
c.1022-1586T>A
c.*313T>A (n.*313T>A)
n.3956T>A
n.2557T>A
c.3068T>A (p.Leu1023Ter)
c.3116T>A (p.Leu1039Ter)
c.3176T>A (p.Leu1059Ter)
c.2726T>A (p.Leu909Ter)
c.1028T>A (p.Leu343Ter)
c.877-1586T>A (n.877-1586T>A)
c.3077T>A (p.Leu1026Ter)
c.3061-1586T>A (n.3061-1586T>A)
c.2798T>A (p.Leu933Ter)
c.2731-1586T>A (n.2731-1586T>A)
c.1880T>A (p.Leu627Ter)
n.3431T>A
13g.51944141A=CA2091563766ATP7Bc.*894-1587T= (n.*894-1587T=)
c.*1955T= (n.*1955T=)
c.2590T= (p.Leu864=)
c.3211T= (p.Leu1071=)
c.2878T= (p.Leu960=)
c.2959T= (p.Leu987=)
c.2977T= (p.Leu993=)
n.3350T=
n.3574T=
c.2146T= (p.Leu716=)
c.1921T= (p.Leu641=)
c.3016T= (p.Leu1006=)
n.431T=
c.1022-1587T=
c.*312T= (n.*312T=)
n.3955T=
n.2556T=
c.3067T= (p.Leu1023=)
c.3115T= (p.Leu1039=)
c.3175T= (p.Leu1059=)
c.2725T= (p.Leu909=)
c.1027T= (p.Leu343=)
c.877-1587T= (n.877-1587T=)
c.3076T= (p.Leu1026=)
c.3061-1587T= (n.3061-1587T=)
c.2797T= (p.Leu933=)
c.2731-1587T= (n.2731-1587T=)
c.1879T= (p.Leu627=)
n.3430T=
13g.51944141A>CCA388029858ATP7Bc.*894-1587T>G (n.*894-1587T>G)
c.*1955T>G (n.*1955T>G)
c.2590T>G (p.Leu864Val)
c.3211T>G (p.Leu1071Val)
c.2878T>G (p.Leu960Val)
c.2959T>G (p.Leu987Val)
c.2977T>G (p.Leu993Val)
n.3350T>G
n.3574T>G
c.2146T>G (p.Leu716Val)
c.1921T>G (p.Leu641Val)
c.3016T>G (p.Leu1006Val)
n.431T>G
c.1022-1587T>G
c.*312T>G (n.*312T>G)
n.3955T>G
n.2556T>G
c.3067T>G (p.Leu1023Val)
c.3115T>G (p.Leu1039Val)
c.3175T>G (p.Leu1059Val)
c.2725T>G (p.Leu909Val)
c.1027T>G (p.Leu343Val)
c.877-1587T>G (n.877-1587T>G)
c.3076T>G (p.Leu1026Val)
c.3061-1587T>G (n.3061-1587T>G)
c.2797T>G (p.Leu933Val)
c.2731-1587T>G (n.2731-1587T>G)
c.1879T>G (p.Leu627Val)
n.3430T>G
13g.51944141A>GCA6988779ATP7Bc.*894-1587T>C (n.*894-1587T>C)
c.*1955T>C (n.*1955T>C)
c.2590T>C (p.Leu864=)
c.3211T>C (p.Leu1071=)
c.2878T>C (p.Leu960=)
c.2959T>C (p.Leu987=)
c.2977T>C (p.Leu993=)
n.3350T>C
n.3574T>C
c.2146T>C (p.Leu716=)
c.1921T>C (p.Leu641=)
c.3016T>C (p.Leu1006=)
n.431T>C
c.1022-1587T>C
c.*312T>C (n.*312T>C)
n.3955T>C
n.2556T>C
c.3067T>C (p.Leu1023=)
c.3115T>C (p.Leu1039=)
c.3175T>C (p.Leu1059=)
c.2725T>C (p.Leu909=)
c.1027T>C (p.Leu343=)
c.877-1587T>C (n.877-1587T>C)
c.3076T>C (p.Leu1026=)
c.3061-1587T>C (n.3061-1587T>C)
c.2797T>C (p.Leu933=)
c.2731-1587T>C (n.2731-1587T>C)
c.1879T>C (p.Leu627=)
n.3430T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944141A>TCA388029861ATP7Bc.*894-1587T>A (n.*894-1587T>A)
c.*1955T>A (n.*1955T>A)
c.2590T>A (p.Leu864Met)
c.3211T>A (p.Leu1071Met)
c.2878T>A (p.Leu960Met)
c.2959T>A (p.Leu987Met)
c.2977T>A (p.Leu993Met)
n.3350T>A
n.3574T>A
c.2146T>A (p.Leu716Met)
c.1921T>A (p.Leu641Met)
c.3016T>A (p.Leu1006Met)
n.431T>A
c.1022-1587T>A
c.*312T>A (n.*312T>A)
n.3955T>A
n.2556T>A
c.3067T>A (p.Leu1023Met)
c.3115T>A (p.Leu1039Met)
c.3175T>A (p.Leu1059Met)
c.2725T>A (p.Leu909Met)
c.1027T>A (p.Leu343Met)
c.877-1587T>A (n.877-1587T>A)
c.3076T>A (p.Leu1026Met)
c.3061-1587T>A (n.3061-1587T>A)
c.2797T>A (p.Leu933Met)
c.2731-1587T>A (n.2731-1587T>A)
c.1879T>A (p.Leu627Met)
n.3430T>A
13g.51944142G>ACA171311ATP7Bc.*894-1588C>T (n.*894-1588C>T)
c.*1954C>T (n.*1954C>T)
c.2589C>T (p.Pro863=)
c.3210C>T (p.Pro1070=)
c.2877C>T (p.Pro959=)
c.2958C>T (p.Pro986=)
c.2976C>T (p.Pro992=)
n.3349C>T
n.3573C>T
c.2145C>T (p.Pro715=)
c.1920C>T (p.Pro640=)
c.3015C>T (p.Pro1005=)
n.430C>T
c.1022-1588C>T
c.*311C>T (n.*311C>T)
n.3954C>T
n.2555C>T
c.3066C>T (p.Pro1022=)
c.3114C>T (p.Pro1038=)
c.3174C>T (p.Pro1058=)
c.2724C>T (p.Pro908=)
c.1026C>T (p.Pro342=)
c.877-1588C>T (n.877-1588C>T)
c.3075C>T (p.Pro1025=)
c.3061-1588C>T (n.3061-1588C>T)
c.2796C>T (p.Pro932=)
c.2731-1588C>T (n.2731-1588C>T)
c.1878C>T (p.Pro626=)
n.3429C>T
 ClinVar dbSNP
13g.51944142G>CCA483894645ATP7Bc.*894-1588C>G (n.*894-1588C>G)
c.*1954C>G (n.*1954C>G)
c.2589C>G (p.Pro863=)
c.3210C>G (p.Pro1070=)
c.2877C>G (p.Pro959=)
c.2958C>G (p.Pro986=)
c.2976C>G (p.Pro992=)
n.3349C>G
n.3573C>G
c.2145C>G (p.Pro715=)
c.1920C>G (p.Pro640=)
c.3015C>G (p.Pro1005=)
n.430C>G
c.1022-1588C>G
c.*311C>G (n.*311C>G)
n.3954C>G
n.2555C>G
c.3066C>G (p.Pro1022=)
c.3114C>G (p.Pro1038=)
c.3174C>G (p.Pro1058=)
c.2724C>G (p.Pro908=)
c.1026C>G (p.Pro342=)
c.877-1588C>G (n.877-1588C>G)
c.3075C>G (p.Pro1025=)
c.3061-1588C>G (n.3061-1588C>G)
c.2796C>G (p.Pro932=)
c.2731-1588C>G (n.2731-1588C>G)
c.1878C>G (p.Pro626=)
n.3429C>G
13g.51944142G=CA2091563776ATP7Bc.*894-1588C= (n.*894-1588C=)
c.*1954C= (n.*1954C=)
c.2589C= (p.Pro863=)
c.3210C= (p.Pro1070=)
c.2877C= (p.Pro959=)
c.2958C= (p.Pro986=)
c.2976C= (p.Pro992=)
n.3349C=
n.3573C=
c.2145C= (p.Pro715=)
c.1920C= (p.Pro640=)
c.3015C= (p.Pro1005=)
n.430C=
c.1022-1588C=
c.*311C= (n.*311C=)
n.3954C=
n.2555C=
c.3066C= (p.Pro1022=)
c.3114C= (p.Pro1038=)
c.3174C= (p.Pro1058=)
c.2724C= (p.Pro908=)
c.1026C= (p.Pro342=)
c.877-1588C= (n.877-1588C=)
c.3075C= (p.Pro1025=)
c.3061-1588C= (n.3061-1588C=)
c.2796C= (p.Pro932=)
c.2731-1588C= (n.2731-1588C=)
c.1878C= (p.Pro626=)
n.3429C=
13g.51944142G>TCA483894644ATP7Bc.*894-1588C>A (n.*894-1588C>A)
c.*1954C>A (n.*1954C>A)
c.2589C>A (p.Pro863=)
c.3210C>A (p.Pro1070=)
c.2877C>A (p.Pro959=)
c.2958C>A (p.Pro986=)
c.2976C>A (p.Pro992=)
n.3349C>A
n.3573C>A
c.2145C>A (p.Pro715=)
c.1920C>A (p.Pro640=)
c.3015C>A (p.Pro1005=)
n.430C>A
c.1022-1588C>A
c.*311C>A (n.*311C>A)
n.3954C>A
n.2555C>A
c.3066C>A (p.Pro1022=)
c.3114C>A (p.Pro1038=)
c.3174C>A (p.Pro1058=)
c.2724C>A (p.Pro908=)
c.1026C>A (p.Pro342=)
c.877-1588C>A (n.877-1588C>A)
c.3075C>A (p.Pro1025=)
c.3061-1588C>A (n.3061-1588C>A)
c.2796C>A (p.Pro932=)
c.2731-1588C>A (n.2731-1588C>A)
c.1878C>A (p.Pro626=)
n.3429C>A
13g.51944145delCA2623116209ATP7Bc.*894-1588del (n.*894-1588del)
c.*1954del (n.*1954del)
c.2589del (p.Leu864TrpfsTer?)
c.3210del (p.Leu1071TrpfsTer?)
c.2877del (p.Leu960TrpfsTer?)
c.2958del (p.Leu987TrpfsTer?)
c.2976del (p.Leu993TrpfsTer?)
n.3349del
n.3573del
c.2145del (p.Leu716TrpfsTer?)
c.1920del (p.Leu641TrpfsTer?)
c.3015del (p.Leu1006TrpfsTer?)
n.430del
c.1022-1588del
c.*311del (n.*311del)
n.3954del
n.2555del
c.3066del (p.Leu1023TrpfsTer?)
c.3114del (p.Leu1039TrpfsTer?)
c.3174del (p.Leu1059TrpfsTer?)
c.2724del (p.Leu909TrpfsTer?)
c.1026del (p.Leu343TrpfsTer?)
c.877-1588del (n.877-1588del)
c.3075del (p.Leu1026TrpfsTer?)
c.3061-1588del (n.3061-1588del)
c.2796del (p.Leu933TrpfsTer?)
c.2731-1588del (n.2731-1588del)
c.1878del (p.Leu627TrpfsTer?)
n.3429del
 gnomAD v4
13g.51944143G>ACA388029869ATP7Bc.*894-1589C>T (n.*894-1589C>T)
c.*1953C>T (n.*1953C>T)
c.2588C>T (p.Pro863Leu)
c.3209C>T (p.Pro1070Leu)
c.2876C>T (p.Pro959Leu)
c.2957C>T (p.Pro986Leu)
c.2975C>T (p.Pro992Leu)
n.3348C>T
n.3572C>T
c.2144C>T (p.Pro715Leu)
c.1919C>T (p.Pro640Leu)
c.3014C>T (p.Pro1005Leu)
n.429C>T
c.1022-1589C>T
c.*310C>T (n.*310C>T)
n.3953C>T
n.2554C>T
c.3065C>T (p.Pro1022Leu)
c.3113C>T (p.Pro1038Leu)
c.3173C>T (p.Pro1058Leu)
c.2723C>T (p.Pro908Leu)
c.1025C>T (p.Pro342Leu)
c.877-1589C>T (n.877-1589C>T)
c.3074C>T (p.Pro1025Leu)
c.3061-1589C>T (n.3061-1589C>T)
c.2795C>T (p.Pro932Leu)
c.2731-1589C>T (n.2731-1589C>T)
c.1877C>T (p.Pro626Leu)
n.3428C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51944143G>CCA388029864ATP7Bc.*894-1589C>G (n.*894-1589C>G)
c.*1953C>G (n.*1953C>G)
c.2588C>G (p.Pro863Arg)
c.3209C>G (p.Pro1070Arg)
c.2876C>G (p.Pro959Arg)
c.2957C>G (p.Pro986Arg)
c.2975C>G (p.Pro992Arg)
n.3348C>G
n.3572C>G
c.2144C>G (p.Pro715Arg)
c.1919C>G (p.Pro640Arg)
c.3014C>G (p.Pro1005Arg)
n.429C>G
c.1022-1589C>G
c.*310C>G (n.*310C>G)
n.3953C>G
n.2554C>G
c.3065C>G (p.Pro1022Arg)
c.3113C>G (p.Pro1038Arg)
c.3173C>G (p.Pro1058Arg)
c.2723C>G (p.Pro908Arg)
c.1025C>G (p.Pro342Arg)
c.877-1589C>G (n.877-1589C>G)
c.3074C>G (p.Pro1025Arg)
c.3061-1589C>G (n.3061-1589C>G)
c.2795C>G (p.Pro932Arg)
c.2731-1589C>G (n.2731-1589C>G)
c.1877C>G (p.Pro626Arg)
n.3428C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51944143G=CA2091563782ATP7Bc.*894-1589C= (n.*894-1589C=)
c.*1953C= (n.*1953C=)
c.2588C= (p.Pro863=)
c.3209C= (p.Pro1070=)
c.2876C= (p.Pro959=)
c.2957C= (p.Pro986=)
c.2975C= (p.Pro992=)
n.3348C=
n.3572C=
c.2144C= (p.Pro715=)
c.1919C= (p.Pro640=)
c.3014C= (p.Pro1005=)
n.429C=
c.1022-1589C=
c.*310C= (n.*310C=)
n.3953C=
n.2554C=
c.3065C= (p.Pro1022=)
c.3113C= (p.Pro1038=)
c.3173C= (p.Pro1058=)
c.2723C= (p.Pro908=)
c.1025C= (p.Pro342=)
c.877-1589C= (n.877-1589C=)
c.3074C= (p.Pro1025=)
c.3061-1589C= (n.3061-1589C=)
c.2795C= (p.Pro932=)
c.2731-1589C= (n.2731-1589C=)
c.1877C= (p.Pro626=)
n.3428C=
13g.51944143G>TCA388029867ATP7Bc.*894-1589C>A (n.*894-1589C>A)
c.*1953C>A (n.*1953C>A)
c.2588C>A (p.Pro863His)
c.3209C>A (p.Pro1070His)
c.2876C>A (p.Pro959His)
c.2957C>A (p.Pro986His)
c.2975C>A (p.Pro992His)
n.3348C>A
n.3572C>A
c.2144C>A (p.Pro715His)
c.1919C>A (p.Pro640His)
c.3014C>A (p.Pro1005His)
n.429C>A
c.1022-1589C>A
c.*310C>A (n.*310C>A)
n.3953C>A
n.2554C>A
c.3065C>A (p.Pro1022His)
c.3113C>A (p.Pro1038His)
c.3173C>A (p.Pro1058His)
c.2723C>A (p.Pro908His)
c.1025C>A (p.Pro342His)
c.877-1589C>A (n.877-1589C>A)
c.3074C>A (p.Pro1025His)
c.3061-1589C>A (n.3061-1589C>A)
c.2795C>A (p.Pro932His)
c.2731-1589C>A (n.2731-1589C>A)
c.1877C>A (p.Pro626His)
n.3428C>A
13g.51944144G>ACA388029870ATP7Bc.*894-1590C>T (n.*894-1590C>T)
c.*1952C>T (n.*1952C>T)
c.2587C>T (p.Pro863Ser)
c.3208C>T (p.Pro1070Ser)
c.2875C>T (p.Pro959Ser)
c.2956C>T (p.Pro986Ser)
c.2974C>T (p.Pro992Ser)
n.3347C>T
n.3571C>T
c.2143C>T (p.Pro715Ser)
c.1918C>T (p.Pro640Ser)
c.3013C>T (p.Pro1005Ser)
n.428C>T
c.1022-1590C>T
c.*309C>T (n.*309C>T)
n.3952C>T
n.2553C>T
c.3064C>T (p.Pro1022Ser)
c.3112C>T (p.Pro1038Ser)
c.3172C>T (p.Pro1058Ser)
c.2722C>T (p.Pro908Ser)
c.1024C>T (p.Pro342Ser)
c.877-1590C>T (n.877-1590C>T)
c.3073C>T (p.Pro1025Ser)
c.3061-1590C>T (n.3061-1590C>T)
c.2794C>T (p.Pro932Ser)
c.2731-1590C>T (n.2731-1590C>T)
c.1876C>T (p.Pro626Ser)
n.3427C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51944144G>CCA388029871ATP7Bc.*894-1590C>G (n.*894-1590C>G)
c.*1952C>G (n.*1952C>G)
c.2587C>G (p.Pro863Ala)
c.3208C>G (p.Pro1070Ala)
c.2875C>G (p.Pro959Ala)
c.2956C>G (p.Pro986Ala)
c.2974C>G (p.Pro992Ala)
n.3347C>G
n.3571C>G
c.2143C>G (p.Pro715Ala)
c.1918C>G (p.Pro640Ala)
c.3013C>G (p.Pro1005Ala)
n.428C>G
c.1022-1590C>G
c.*309C>G (n.*309C>G)
n.3952C>G
n.2553C>G
c.3064C>G (p.Pro1022Ala)
c.3112C>G (p.Pro1038Ala)
c.3172C>G (p.Pro1058Ala)
c.2722C>G (p.Pro908Ala)
c.1024C>G (p.Pro342Ala)
c.877-1590C>G (n.877-1590C>G)
c.3073C>G (p.Pro1025Ala)
c.3061-1590C>G (n.3061-1590C>G)
c.2794C>G (p.Pro932Ala)
c.2731-1590C>G (n.2731-1590C>G)
c.1876C>G (p.Pro626Ala)
n.3427C>G
13g.51944144G=CA2091563787ATP7Bc.*894-1590C= (n.*894-1590C=)
c.*1952C= (n.*1952C=)
c.2587C= (p.Pro863=)
c.3208C= (p.Pro1070=)
c.2875C= (p.Pro959=)
c.2956C= (p.Pro986=)
c.2974C= (p.Pro992=)
n.3347C=
n.3571C=
c.2143C= (p.Pro715=)
c.1918C= (p.Pro640=)
c.3013C= (p.Pro1005=)
n.428C=
c.1022-1590C=
c.*309C= (n.*309C=)
n.3952C=
n.2553C=
c.3064C= (p.Pro1022=)
c.3112C= (p.Pro1038=)
c.3172C= (p.Pro1058=)
c.2722C= (p.Pro908=)
c.1024C= (p.Pro342=)
c.877-1590C= (n.877-1590C=)
c.3073C= (p.Pro1025=)
c.3061-1590C= (n.3061-1590C=)
c.2794C= (p.Pro932=)
c.2731-1590C= (n.2731-1590C=)
c.1876C= (p.Pro626=)
n.3427C=
13g.51944144G>TCA388029873ATP7Bc.*894-1590C>A (n.*894-1590C>A)
c.*1952C>A (n.*1952C>A)
c.2587C>A (p.Pro863Thr)
c.3208C>A (p.Pro1070Thr)
c.2875C>A (p.Pro959Thr)
c.2956C>A (p.Pro986Thr)
c.2974C>A (p.Pro992Thr)
n.3347C>A
n.3571C>A
c.2143C>A (p.Pro715Thr)
c.1918C>A (p.Pro640Thr)
c.3013C>A (p.Pro1005Thr)
n.428C>A
c.1022-1590C>A
c.*309C>A (n.*309C>A)
n.3952C>A
n.2553C>A
c.3064C>A (p.Pro1022Thr)
c.3112C>A (p.Pro1038Thr)
c.3172C>A (p.Pro1058Thr)
c.2722C>A (p.Pro908Thr)
c.1024C>A (p.Pro342Thr)
c.877-1590C>A (n.877-1590C>A)
c.3073C>A (p.Pro1025Thr)
c.3061-1590C>A (n.3061-1590C>A)
c.2794C>A (p.Pro932Thr)
c.2731-1590C>A (n.2731-1590C>A)
c.1876C>A (p.Pro626Thr)
n.3427C>A
13g.51944145G>ACA6988780ATP7Bc.*894-1591C>T (n.*894-1591C>T)
c.*1951C>T (n.*1951C>T)
c.2586C>T (p.His862=)
c.3207C>T (p.His1069=)
c.2874C>T (p.His958=)
c.2955C>T (p.His985=)
c.2973C>T (p.His991=)
n.3346C>T
n.3570C>T
c.2142C>T (p.His714=)
c.1917C>T (p.His639=)
c.3012C>T (p.His1004=)
n.427C>T
c.1022-1591C>T
c.*308C>T (n.*308C>T)
n.3951C>T
n.2552C>T
c.3063C>T (p.His1021=)
c.3111C>T (p.His1037=)
c.3171C>T (p.His1057=)
c.2721C>T (p.His907=)
c.1023C>T (p.His341=)
c.877-1591C>T (n.877-1591C>T)
c.3072C>T (p.His1024=)
c.3061-1591C>T (n.3061-1591C>T)
c.2793C>T (p.His931=)
c.2731-1591C>T (n.2731-1591C>T)
c.1875C>T (p.His625=)
n.3426C>T
 ClinVar dbSNP ExAC gnomAD v2
13g.51944145G>CCA388029876ATP7Bc.*894-1591C>G (n.*894-1591C>G)
c.*1951C>G (n.*1951C>G)
c.2586C>G (p.His862Gln)
c.3207C>G (p.His1069Gln)
c.2874C>G (p.His958Gln)
c.2955C>G (p.His985Gln)
c.2973C>G (p.His991Gln)
n.3346C>G
n.3570C>G
c.2142C>G (p.His714Gln)
c.1917C>G (p.His639Gln)
c.3012C>G (p.His1004Gln)
n.427C>G
c.1022-1591C>G
c.*308C>G (n.*308C>G)
n.3951C>G
n.2552C>G
c.3063C>G (p.His1021Gln)
c.3111C>G (p.His1037Gln)
c.3171C>G (p.His1057Gln)
c.2721C>G (p.His907Gln)
c.1023C>G (p.His341Gln)
c.877-1591C>G (n.877-1591C>G)
c.3072C>G (p.His1024Gln)
c.3061-1591C>G (n.3061-1591C>G)
c.2793C>G (p.His931Gln)
c.2731-1591C>G (n.2731-1591C>G)
c.1875C>G (p.His625Gln)
n.3426C>G
13g.51944145G=CA2091563802ATP7Bc.*894-1591C= (n.*894-1591C=)
c.*1951C= (n.*1951C=)
c.2586C= (p.His862=)
c.3207C= (p.His1069=)
c.2874C= (p.His958=)
c.2955C= (p.His985=)
c.2973C= (p.His991=)
n.3346C=
n.3570C=
c.2142C= (p.His714=)
c.1917C= (p.His639=)
c.3012C= (p.His1004=)
n.427C=
c.1022-1591C=
c.*308C= (n.*308C=)
n.3951C=
n.2552C=
c.3063C= (p.His1021=)
c.3111C= (p.His1037=)
c.3171C= (p.His1057=)
c.2721C= (p.His907=)
c.1023C= (p.His341=)
c.877-1591C= (n.877-1591C=)
c.3072C= (p.His1024=)
c.3061-1591C= (n.3061-1591C=)
c.2793C= (p.His931=)
c.2731-1591C= (n.2731-1591C=)
c.1875C= (p.His625=)
n.3426C=
13g.51944145G>TCA220309ATP7Bc.*894-1591C>A (n.*894-1591C>A)
c.*1951C>A (n.*1951C>A)
c.2586C>A (p.His862Gln)
c.3207C>A (p.His1069Gln)
c.2874C>A (p.His958Gln)
c.2955C>A (p.His985Gln)
c.2973C>A (p.His991Gln)
n.3346C>A
n.3570C>A
c.2142C>A (p.His714Gln)
c.1917C>A (p.His639Gln)
c.3012C>A (p.His1004Gln)
n.427C>A
c.1022-1591C>A
c.*308C>A (n.*308C>A)
n.3951C>A
n.2552C>A
c.3063C>A (p.His1021Gln)
c.3111C>A (p.His1037Gln)
c.3171C>A (p.His1057Gln)
c.2721C>A (p.His907Gln)
c.1023C>A (p.His341Gln)
c.877-1591C>A (n.877-1591C>A)
c.3072C>A (p.His1024Gln)
c.3061-1591C>A (n.3061-1591C>A)
c.2793C>A (p.His931Gln)
c.2731-1591C>A (n.2731-1591C>A)
c.1875C>A (p.His625Gln)
n.3426C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944146T>ACA388029880ATP7Bc.*894-1592A>T (n.*894-1592A>T)
c.*1950A>T (n.*1950A>T)
c.2585A>T (p.His862Leu)
c.3206A>T (p.His1069Leu)
c.2873A>T (p.His958Leu)
c.2954A>T (p.His985Leu)
c.2972A>T (p.His991Leu)
n.3345A>T
n.3569A>T
c.2141A>T (p.His714Leu)
c.1916A>T (p.His639Leu)
c.3011A>T (p.His1004Leu)
n.426A>T
c.1022-1592A>T
c.*307A>T (n.*307A>T)
n.3950A>T
n.2551A>T
c.3062A>T (p.His1021Leu)
c.3110A>T (p.His1037Leu)
c.3170A>T (p.His1057Leu)
c.2720A>T (p.His907Leu)
c.1022A>T (p.His341Leu)
c.877-1592A>T (n.877-1592A>T)
c.3071A>T (p.His1024Leu)
c.3061-1592A>T (n.3061-1592A>T)
c.2792A>T (p.His931Leu)
c.2731-1592A>T (n.2731-1592A>T)
c.1874A>T (p.His625Leu)
n.3425A>T
 ClinVar
13g.51944146T>CCA388029883ATP7Bc.*894-1592A>G (n.*894-1592A>G)
c.*1950A>G (n.*1950A>G)
c.2585A>G (p.His862Arg)
c.3206A>G (p.His1069Arg)
c.2873A>G (p.His958Arg)
c.2954A>G (p.His985Arg)
c.2972A>G (p.His991Arg)
n.3345A>G
n.3569A>G
c.2141A>G (p.His714Arg)
c.1916A>G (p.His639Arg)
c.3011A>G (p.His1004Arg)
n.426A>G
c.1022-1592A>G
c.*307A>G (n.*307A>G)
n.3950A>G
n.2551A>G
c.3062A>G (p.His1021Arg)
c.3110A>G (p.His1037Arg)
c.3170A>G (p.His1057Arg)
c.2720A>G (p.His907Arg)
c.1022A>G (p.His341Arg)
c.877-1592A>G (n.877-1592A>G)
c.3071A>G (p.His1024Arg)
c.3061-1592A>G (n.3061-1592A>G)
c.2792A>G (p.His931Arg)
c.2731-1592A>G (n.2731-1592A>G)
c.1874A>G (p.His625Arg)
n.3425A>G
 ClinVar dbSNP
13g.51944146T>GCA250080070ATP7Bc.*894-1592A>C (n.*894-1592A>C)
c.*1950A>C (n.*1950A>C)
c.2585A>C (p.His862Pro)
c.3206A>C (p.His1069Pro)
c.2873A>C (p.His958Pro)
c.2954A>C (p.His985Pro)
c.2972A>C (p.His991Pro)
n.3345A>C
n.3569A>C
c.2141A>C (p.His714Pro)
c.1916A>C (p.His639Pro)
c.3011A>C (p.His1004Pro)
n.426A>C
c.1022-1592A>C
c.*307A>C (n.*307A>C)
n.3950A>C
n.2551A>C
c.3062A>C (p.His1021Pro)
c.3110A>C (p.His1037Pro)
c.3170A>C (p.His1057Pro)
c.2720A>C (p.His907Pro)
c.1022A>C (p.His341Pro)
c.877-1592A>C (n.877-1592A>C)
c.3071A>C (p.His1024Pro)
c.3061-1592A>C (n.3061-1592A>C)
c.2792A>C (p.His931Pro)
c.2731-1592A>C (n.2731-1592A>C)
c.1874A>C (p.His625Pro)
n.3425A>C
 dbSNP
13g.51944146T=CA2091563806ATP7Bc.*894-1592A= (n.*894-1592A=)
c.*1950A= (n.*1950A=)
c.2585A= (p.His862=)
c.3206A= (p.His1069=)
c.2873A= (p.His958=)
c.2954A= (p.His985=)
c.2972A= (p.His991=)
n.3345A=
n.3569A=
c.2141A= (p.His714=)
c.1916A= (p.His639=)
c.3011A= (p.His1004=)
n.426A=
c.1022-1592A=
c.*307A= (n.*307A=)
n.3950A=
n.2551A=
c.3062A= (p.His1021=)
c.3110A= (p.His1037=)
c.3170A= (p.His1057=)
c.2720A= (p.His907=)
c.1022A= (p.His341=)
c.877-1592A= (n.877-1592A=)
c.3071A= (p.His1024=)
c.3061-1592A= (n.3061-1592A=)
c.2792A= (p.His931=)
c.2731-1592A= (n.2731-1592A=)
c.1874A= (p.His625=)
n.3425A=
13g.51944147G>ACA250080082ATP7Bc.*894-1593C>T (n.*894-1593C>T)
c.*1949C>T (n.*1949C>T)
c.2584C>T (p.His862Tyr)
c.3205C>T (p.His1069Tyr)
c.2872C>T (p.His958Tyr)
c.2953C>T (p.His985Tyr)
c.2971C>T (p.His991Tyr)
n.3344C>T
n.3568C>T
c.2140C>T (p.His714Tyr)
c.1915C>T (p.His639Tyr)
c.3010C>T (p.His1004Tyr)
n.425C>T
c.1022-1593C>T
c.*306C>T (n.*306C>T)
n.3949C>T
n.2550C>T
c.3061C>T (p.His1021Tyr)
c.3109C>T (p.His1037Tyr)
c.3169C>T (p.His1057Tyr)
c.2719C>T (p.His907Tyr)
c.1021C>T (p.His341Tyr)
c.877-1593C>T (n.877-1593C>T)
c.3070C>T (p.His1024Tyr)
c.3061-1593C>T (n.3061-1593C>T)
c.2791C>T (p.His931Tyr)
c.2731-1593C>T (n.2731-1593C>T)
c.1873C>T (p.His625Tyr)
n.3424C>T
 dbSNP gnomAD v4
13g.51944147G>CCA388029888ATP7Bc.*894-1593C>G (n.*894-1593C>G)
c.*1949C>G (n.*1949C>G)
c.2584C>G (p.His862Asp)
c.3205C>G (p.His1069Asp)
c.2872C>G (p.His958Asp)
c.2953C>G (p.His985Asp)
c.2971C>G (p.His991Asp)
n.3344C>G
n.3568C>G
c.2140C>G (p.His714Asp)
c.1915C>G (p.His639Asp)
c.3010C>G (p.His1004Asp)
n.425C>G
c.1022-1593C>G
c.*306C>G (n.*306C>G)
n.3949C>G
n.2550C>G
c.3061C>G (p.His1021Asp)
c.3109C>G (p.His1037Asp)
c.3169C>G (p.His1057Asp)
c.2719C>G (p.His907Asp)
c.1021C>G (p.His341Asp)
c.877-1593C>G (n.877-1593C>G)
c.3070C>G (p.His1024Asp)
c.3061-1593C>G (n.3061-1593C>G)
c.2791C>G (p.His931Asp)
c.2731-1593C>G (n.2731-1593C>G)
c.1873C>G (p.His625Asp)
n.3424C>G
13g.51944147G=CA2091563810ATP7Bc.*894-1593C= (n.*894-1593C=)
c.*1949C= (n.*1949C=)
c.2584C= (p.His862=)
c.3205C= (p.His1069=)
c.2872C= (p.His958=)
c.2953C= (p.His985=)
c.2971C= (p.His991=)
n.3344C=
n.3568C=
c.2140C= (p.His714=)
c.1915C= (p.His639=)
c.3010C= (p.His1004=)
n.425C=
c.1022-1593C=
c.*306C= (n.*306C=)
n.3949C=
n.2550C=
c.3061C= (p.His1021=)
c.3109C= (p.His1037=)
c.3169C= (p.His1057=)
c.2719C= (p.His907=)
c.1021C= (p.His341=)
c.877-1593C= (n.877-1593C=)
c.3070C= (p.His1024=)
c.3061-1593C= (n.3061-1593C=)
c.2791C= (p.His931=)
c.2731-1593C= (n.2731-1593C=)
c.1873C= (p.His625=)
n.3424C=
13g.51944147G>TCA388029895ATP7Bc.*894-1593C>A (n.*894-1593C>A)
c.*1949C>A (n.*1949C>A)
c.2584C>A (p.His862Asn)
c.3205C>A (p.His1069Asn)
c.2872C>A (p.His958Asn)
c.2953C>A (p.His985Asn)
c.2971C>A (p.His991Asn)
n.3344C>A
n.3568C>A
c.2140C>A (p.His714Asn)
c.1915C>A (p.His639Asn)
c.3010C>A (p.His1004Asn)
n.425C>A
c.1022-1593C>A
c.*306C>A (n.*306C>A)
n.3949C>A
n.2550C>A
c.3061C>A (p.His1021Asn)
c.3109C>A (p.His1037Asn)
c.3169C>A (p.His1057Asn)
c.2719C>A (p.His907Asn)
c.1021C>A (p.His341Asn)
c.877-1593C>A (n.877-1593C>A)
c.3070C>A (p.His1024Asn)
c.3061-1593C>A (n.3061-1593C>A)
c.2791C>A (p.His931Asn)
c.2731-1593C>A (n.2731-1593C>A)
c.1873C>A (p.His625Asn)
n.3424C>A
13g.51944148T>ACA388029900ATP7Bc.*894-1594A>T (n.*894-1594A>T)
c.*1948A>T (n.*1948A>T)
c.2583A>T (p.Glu861Asp)
c.3204A>T (p.Glu1068Asp)
c.2871A>T (p.Glu957Asp)
c.2952A>T (p.Glu984Asp)
c.2970A>T (p.Glu990Asp)
n.3343A>T
n.3567A>T
c.2139A>T (p.Glu713Asp)
c.1914A>T (p.Glu638Asp)
c.3009A>T (p.Glu1003Asp)
n.424A>T
c.1022-1594A>T
c.*305A>T (n.*305A>T)
n.3948A>T
n.2549A>T
c.3060A>T (p.Glu1020Asp)
c.3108A>T (p.Glu1036Asp)
c.3168A>T (p.Glu1056Asp)
c.2718A>T (p.Glu906Asp)
c.1020A>T (p.Glu340Asp)
c.877-1594A>T (n.877-1594A>T)
c.3069A>T (p.Glu1023Asp)
c.3061-1594A>T (n.3061-1594A>T)
c.2790A>T (p.Glu930Asp)
c.2731-1594A>T (n.2731-1594A>T)
c.1872A>T (p.Glu624Asp)
n.3423A>T
13g.51944148T>CCA483894652ATP7Bc.*894-1594A>G (n.*894-1594A>G)
c.*1948A>G (n.*1948A>G)
c.2583A>G (p.Glu861=)
c.3204A>G (p.Glu1068=)
c.2871A>G (p.Glu957=)
c.2952A>G (p.Glu984=)
c.2970A>G (p.Glu990=)
n.3343A>G
n.3567A>G
c.2139A>G (p.Glu713=)
c.1914A>G (p.Glu638=)
c.3009A>G (p.Glu1003=)
n.424A>G
c.1022-1594A>G
c.*305A>G (n.*305A>G)
n.3948A>G
n.2549A>G
c.3060A>G (p.Glu1020=)
c.3108A>G (p.Glu1036=)
c.3168A>G (p.Glu1056=)
c.2718A>G (p.Glu906=)
c.1020A>G (p.Glu340=)
c.877-1594A>G (n.877-1594A>G)
c.3069A>G (p.Glu1023=)
c.3061-1594A>G (n.3061-1594A>G)
c.2790A>G (p.Glu930=)
c.2731-1594A>G (n.2731-1594A>G)
c.1872A>G (p.Glu624=)
n.3423A>G
 ClinVar dbSNP
13g.51944148T>GCA388029898ATP7Bc.*894-1594A>C (n.*894-1594A>C)
c.*1948A>C (n.*1948A>C)
c.2583A>C (p.Glu861Asp)
c.3204A>C (p.Glu1068Asp)
c.2871A>C (p.Glu957Asp)
c.2952A>C (p.Glu984Asp)
c.2970A>C (p.Glu990Asp)
n.3343A>C
n.3567A>C
c.2139A>C (p.Glu713Asp)
c.1914A>C (p.Glu638Asp)
c.3009A>C (p.Glu1003Asp)
n.424A>C
c.1022-1594A>C
c.*305A>C (n.*305A>C)
n.3948A>C
n.2549A>C
c.3060A>C (p.Glu1020Asp)
c.3108A>C (p.Glu1036Asp)
c.3168A>C (p.Glu1056Asp)
c.2718A>C (p.Glu906Asp)
c.1020A>C (p.Glu340Asp)
c.877-1594A>C (n.877-1594A>C)
c.3069A>C (p.Glu1023Asp)
c.3061-1594A>C (n.3061-1594A>C)
c.2790A>C (p.Glu930Asp)
c.2731-1594A>C (n.2731-1594A>C)
c.1872A>C (p.Glu624Asp)
n.3423A>C
13g.51944148T=CA2091563811ATP7Bc.*894-1594A= (n.*894-1594A=)
c.*1948A= (n.*1948A=)
c.2583A= (p.Glu861=)
c.3204A= (p.Glu1068=)
c.2871A= (p.Glu957=)
c.2952A= (p.Glu984=)
c.2970A= (p.Glu990=)
n.3343A=
n.3567A=
c.2139A= (p.Glu713=)
c.1914A= (p.Glu638=)
c.3009A= (p.Glu1003=)
n.424A=
c.1022-1594A=
c.*305A= (n.*305A=)
n.3948A=
n.2549A=
c.3060A= (p.Glu1020=)
c.3108A= (p.Glu1036=)
c.3168A= (p.Glu1056=)
c.2718A= (p.Glu906=)
c.1020A= (p.Glu340=)
c.877-1594A= (n.877-1594A=)
c.3069A= (p.Glu1023=)
c.3061-1594A= (n.3061-1594A=)
c.2790A= (p.Glu930=)
c.2731-1594A= (n.2731-1594A=)
c.1872A= (p.Glu624=)
n.3423A=
13g.51944149T>ACA388029901ATP7Bc.*894-1595A>T (n.*894-1595A>T)
c.*1947A>T (n.*1947A>T)
c.2582A>T (p.Glu861Val)
c.3203A>T (p.Glu1068Val)
c.2870A>T (p.Glu957Val)
c.2951A>T (p.Glu984Val)
c.2969A>T (p.Glu990Val)
n.3342A>T
n.3566A>T
c.2138A>T (p.Glu713Val)
c.1913A>T (p.Glu638Val)
c.3008A>T (p.Glu1003Val)
n.423A>T
c.1022-1595A>T
c.*304A>T (n.*304A>T)
n.3947A>T
n.2548A>T
c.3059A>T (p.Glu1020Val)
c.3107A>T (p.Glu1036Val)
c.3167A>T (p.Glu1056Val)
c.2717A>T (p.Glu906Val)
c.1019A>T (p.Glu340Val)
c.877-1595A>T (n.877-1595A>T)
c.3068A>T (p.Glu1023Val)
c.3061-1595A>T (n.3061-1595A>T)
c.2789A>T (p.Glu930Val)
c.2731-1595A>T (n.2731-1595A>T)
c.1871A>T (p.Glu624Val)
n.3422A>T
13g.51944149T>CCA388029904ATP7Bc.*894-1595A>G (n.*894-1595A>G)
c.*1947A>G (n.*1947A>G)
c.2582A>G (p.Glu861Gly)
c.3203A>G (p.Glu1068Gly)
c.2870A>G (p.Glu957Gly)
c.2951A>G (p.Glu984Gly)
c.2969A>G (p.Glu990Gly)
n.3342A>G
n.3566A>G
c.2138A>G (p.Glu713Gly)
c.1913A>G (p.Glu638Gly)
c.3008A>G (p.Glu1003Gly)
n.423A>G
c.1022-1595A>G
c.*304A>G (n.*304A>G)
n.3947A>G
n.2548A>G
c.3059A>G (p.Glu1020Gly)
c.3107A>G (p.Glu1036Gly)
c.3167A>G (p.Glu1056Gly)
c.2717A>G (p.Glu906Gly)
c.1019A>G (p.Glu340Gly)
c.877-1595A>G (n.877-1595A>G)
c.3068A>G (p.Glu1023Gly)
c.3061-1595A>G (n.3061-1595A>G)
c.2789A>G (p.Glu930Gly)
c.2731-1595A>G (n.2731-1595A>G)
c.1871A>G (p.Glu624Gly)
n.3422A>G
 ClinVar dbSNP
13g.51944149T>GCA388029907ATP7Bc.*894-1595A>C (n.*894-1595A>C)
c.*1947A>C (n.*1947A>C)
c.2582A>C (p.Glu861Ala)
c.3203A>C (p.Glu1068Ala)
c.2870A>C (p.Glu957Ala)
c.2951A>C (p.Glu984Ala)
c.2969A>C (p.Glu990Ala)
n.3342A>C
n.3566A>C
c.2138A>C (p.Glu713Ala)
c.1913A>C (p.Glu638Ala)
c.3008A>C (p.Glu1003Ala)
n.423A>C
c.1022-1595A>C
c.*304A>C (n.*304A>C)
n.3947A>C
n.2548A>C
c.3059A>C (p.Glu1020Ala)
c.3107A>C (p.Glu1036Ala)
c.3167A>C (p.Glu1056Ala)
c.2717A>C (p.Glu906Ala)
c.1019A>C (p.Glu340Ala)
c.877-1595A>C (n.877-1595A>C)
c.3068A>C (p.Glu1023Ala)
c.3061-1595A>C (n.3061-1595A>C)
c.2789A>C (p.Glu930Ala)
c.2731-1595A>C (n.2731-1595A>C)
c.1871A>C (p.Glu624Ala)
n.3422A>C
13g.51944149T=CA2091563814ATP7Bc.*894-1595A= (n.*894-1595A=)
c.*1947A= (n.*1947A=)
c.2582A= (p.Glu861=)
c.3203A= (p.Glu1068=)
c.2870A= (p.Glu957=)
c.2951A= (p.Glu984=)
c.2969A= (p.Glu990=)
n.3342A=
n.3566A=
c.2138A= (p.Glu713=)
c.1913A= (p.Glu638=)
c.3008A= (p.Glu1003=)
n.423A=
c.1022-1595A=
c.*304A= (n.*304A=)
n.3947A=
n.2548A=
c.3059A= (p.Glu1020=)
c.3107A= (p.Glu1036=)
c.3167A= (p.Glu1056=)
c.2717A= (p.Glu906=)
c.1019A= (p.Glu340=)
c.877-1595A= (n.877-1595A=)
c.3068A= (p.Glu1023=)
c.3061-1595A= (n.3061-1595A=)
c.2789A= (p.Glu930=)
c.2731-1595A= (n.2731-1595A=)
c.1871A= (p.Glu624=)
n.3422A=
13g.51944150C>ACA388029909ATP7Bc.*894-1596G>T (n.*894-1596G>T)
c.*1946G>T (n.*1946G>T)
c.2581G>T (p.Glu861Ter)
c.3202G>T (p.Glu1068Ter)
c.2869G>T (p.Glu957Ter)
c.2950G>T (p.Glu984Ter)
c.2968G>T (p.Glu990Ter)
n.3341G>T
n.3565G>T
c.2137G>T (p.Glu713Ter)
c.1912G>T (p.Glu638Ter)
c.3007G>T (p.Glu1003Ter)
n.422G>T
c.1022-1596G>T
c.*303G>T (n.*303G>T)
n.3946G>T
n.2547G>T
c.3058G>T (p.Glu1020Ter)
c.3106G>T (p.Glu1036Ter)
c.3166G>T (p.Glu1056Ter)
c.2716G>T (p.Glu906Ter)
c.1018G>T (p.Glu340Ter)
c.877-1596G>T (n.877-1596G>T)
c.3067G>T (p.Glu1023Ter)
c.3061-1596G>T (n.3061-1596G>T)
c.2788G>T (p.Glu930Ter)
c.2731-1596G>T (n.2731-1596G>T)
c.1870G>T (p.Glu624Ter)
n.3421G>T
 dbSNP gnomAD v3 gnomAD v4
13g.51944150C=CA2091563818ATP7Bc.*894-1596G= (n.*894-1596G=)
c.*1946G= (n.*1946G=)
c.2581G= (p.Glu861=)
c.3202G= (p.Glu1068=)
c.2869G= (p.Glu957=)
c.2950G= (p.Glu984=)
c.2968G= (p.Glu990=)
n.3341G=
n.3565G=
c.2137G= (p.Glu713=)
c.1912G= (p.Glu638=)
c.3007G= (p.Glu1003=)
n.422G=
c.1022-1596G=
c.*303G= (n.*303G=)
n.3946G=
n.2547G=
c.3058G= (p.Glu1020=)
c.3106G= (p.Glu1036=)
c.3166G= (p.Glu1056=)
c.2716G= (p.Glu906=)
c.1018G= (p.Glu340=)
c.877-1596G= (n.877-1596G=)
c.3067G= (p.Glu1023=)
c.3061-1596G= (n.3061-1596G=)
c.2788G= (p.Glu930=)
c.2731-1596G= (n.2731-1596G=)
c.1870G= (p.Glu624=)
n.3421G=
13g.51944150C>GCA388029911ATP7Bc.*894-1596G>C (n.*894-1596G>C)
c.*1946G>C (n.*1946G>C)
c.2581G>C (p.Glu861Gln)
c.3202G>C (p.Glu1068Gln)
c.2869G>C (p.Glu957Gln)
c.2950G>C (p.Glu984Gln)
c.2968G>C (p.Glu990Gln)
n.3341G>C
n.3565G>C
c.2137G>C (p.Glu713Gln)
c.1912G>C (p.Glu638Gln)
c.3007G>C (p.Glu1003Gln)
n.422G>C
c.1022-1596G>C
c.*303G>C (n.*303G>C)
n.3946G>C
n.2547G>C
c.3058G>C (p.Glu1020Gln)
c.3106G>C (p.Glu1036Gln)
c.3166G>C (p.Glu1056Gln)
c.2716G>C (p.Glu906Gln)
c.1018G>C (p.Glu340Gln)
c.877-1596G>C (n.877-1596G>C)
c.3067G>C (p.Glu1023Gln)
c.3061-1596G>C (n.3061-1596G>C)
c.2788G>C (p.Glu930Gln)
c.2731-1596G>C (n.2731-1596G>C)
c.1870G>C (p.Glu624Gln)
n.3421G>C
13g.51944150C>TCA388029914ATP7Bc.*894-1596G>A (n.*894-1596G>A)
c.*1946G>A (n.*1946G>A)
c.2581G>A (p.Glu861Lys)
c.3202G>A (p.Glu1068Lys)
c.2869G>A (p.Glu957Lys)
c.2950G>A (p.Glu984Lys)
c.2968G>A (p.Glu990Lys)
n.3341G>A
n.3565G>A
c.2137G>A (p.Glu713Lys)
c.1912G>A (p.Glu638Lys)
c.3007G>A (p.Glu1003Lys)
n.422G>A
c.1022-1596G>A
c.*303G>A (n.*303G>A)
n.3946G>A
n.2547G>A
c.3058G>A (p.Glu1020Lys)
c.3106G>A (p.Glu1036Lys)
c.3166G>A (p.Glu1056Lys)
c.2716G>A (p.Glu906Lys)
c.1018G>A (p.Glu340Lys)
c.877-1596G>A (n.877-1596G>A)
c.3067G>A (p.Glu1023Lys)
c.3061-1596G>A (n.3061-1596G>A)
c.2788G>A (p.Glu930Lys)
c.2731-1596G>A (n.2731-1596G>A)
c.1870G>A (p.Glu624Lys)
n.3421G>A
13g.51944151A>CCA388029915ATP7Bc.*894-1597T>G (n.*894-1597T>G)
c.*1945T>G (n.*1945T>G)
c.2580T>G (p.Ser860Arg)
c.3201T>G (p.Ser1067Arg)
c.2868T>G (p.Ser956Arg)
c.2949T>G (p.Ser983Arg)
c.2967T>G (p.Ser989Arg)
n.3340T>G
n.3564T>G
c.2136T>G (p.Ser712Arg)
c.1911T>G (p.Ser637Arg)
c.3006T>G (p.Ser1002Arg)
n.421T>G
c.1022-1597T>G
c.*302T>G (n.*302T>G)
n.3945T>G
n.2546T>G
c.3057T>G (p.Ser1019Arg)
c.3105T>G (p.Ser1035Arg)
c.3165T>G (p.Ser1055Arg)
c.2715T>G (p.Ser905Arg)
c.1017T>G (p.Ser339Arg)
c.877-1597T>G (n.877-1597T>G)
c.3066T>G (p.Ser1022Arg)
c.3061-1597T>G (n.3061-1597T>G)
c.2787T>G (p.Ser929Arg)
c.2731-1597T>G (n.2731-1597T>G)
c.1869T>G (p.Ser623Arg)
n.3420T>G
 ClinVar dbSNP
13g.51944151A>GCA483894654ATP7Bc.*894-1597T>C (n.*894-1597T>C)
c.*1945T>C (n.*1945T>C)
c.2580T>C (p.Ser860=)
c.3201T>C (p.Ser1067=)
c.2868T>C (p.Ser956=)
c.2949T>C (p.Ser983=)
c.2967T>C (p.Ser989=)
n.3340T>C
n.3564T>C
c.2136T>C (p.Ser712=)
c.1911T>C (p.Ser637=)
c.3006T>C (p.Ser1002=)
n.421T>C
c.1022-1597T>C
c.*302T>C (n.*302T>C)
n.3945T>C
n.2546T>C
c.3057T>C (p.Ser1019=)
c.3105T>C (p.Ser1035=)
c.3165T>C (p.Ser1055=)
c.2715T>C (p.Ser905=)
c.1017T>C (p.Ser339=)
c.877-1597T>C (n.877-1597T>C)
c.3066T>C (p.Ser1022=)
c.3061-1597T>C (n.3061-1597T>C)
c.2787T>C (p.Ser929=)
c.2731-1597T>C (n.2731-1597T>C)
c.1869T>C (p.Ser623=)
n.3420T>C
13g.51944151A>TCA388029918ATP7Bc.*894-1597T>A (n.*894-1597T>A)
c.*1945T>A (n.*1945T>A)
c.2580T>A (p.Ser860Arg)
c.3201T>A (p.Ser1067Arg)
c.2868T>A (p.Ser956Arg)
c.2949T>A (p.Ser983Arg)
c.2967T>A (p.Ser989Arg)
n.3340T>A
n.3564T>A
c.2136T>A (p.Ser712Arg)
c.1911T>A (p.Ser637Arg)
c.3006T>A (p.Ser1002Arg)
n.421T>A
c.1022-1597T>A
c.*302T>A (n.*302T>A)
n.3945T>A
n.2546T>A
c.3057T>A (p.Ser1019Arg)
c.3105T>A (p.Ser1035Arg)
c.3165T>A (p.Ser1055Arg)
c.2715T>A (p.Ser905Arg)
c.1017T>A (p.Ser339Arg)
c.877-1597T>A (n.877-1597T>A)
c.3066T>A (p.Ser1022Arg)
c.3061-1597T>A (n.3061-1597T>A)
c.2787T>A (p.Ser929Arg)
c.2731-1597T>A (n.2731-1597T>A)
c.1869T>A (p.Ser623Arg)
n.3420T>A
13g.51944152C>ACA388029920ATP7Bc.*894-1598G>T (n.*894-1598G>T)
c.*1944G>T (n.*1944G>T)
c.2579G>T (p.Ser860Ile)
c.3200G>T (p.Ser1067Ile)
c.2867G>T (p.Ser956Ile)
c.2948G>T (p.Ser983Ile)
c.2966G>T (p.Ser989Ile)
n.3339G>T
n.3563G>T
c.2135G>T (p.Ser712Ile)
c.1910G>T (p.Ser637Ile)
c.3005G>T (p.Ser1002Ile)
n.420G>T
c.1022-1598G>T
c.*301G>T (n.*301G>T)
n.3944G>T
n.2545G>T
c.3056G>T (p.Ser1019Ile)
c.3104G>T (p.Ser1035Ile)
c.3164G>T (p.Ser1055Ile)
c.2714G>T (p.Ser905Ile)
c.1016G>T (p.Ser339Ile)
c.877-1598G>T (n.877-1598G>T)
c.3065G>T (p.Ser1022Ile)
c.3061-1598G>T (n.3061-1598G>T)
c.2786G>T (p.Ser929Ile)
c.2731-1598G>T (n.2731-1598G>T)
c.1868G>T (p.Ser623Ile)
n.3419G>T
13g.51944152C=CA2091563821ATP7Bc.*894-1598G= (n.*894-1598G=)
c.*1944G= (n.*1944G=)
c.2579G= (p.Ser860=)
c.3200G= (p.Ser1067=)
c.2867G= (p.Ser956=)
c.2948G= (p.Ser983=)
c.2966G= (p.Ser989=)
n.3339G=
n.3563G=
c.2135G= (p.Ser712=)
c.1910G= (p.Ser637=)
c.3005G= (p.Ser1002=)
n.420G=
c.1022-1598G=
c.*301G= (n.*301G=)
n.3944G=
n.2545G=
c.3056G= (p.Ser1019=)
c.3104G= (p.Ser1035=)
c.3164G= (p.Ser1055=)
c.2714G= (p.Ser905=)
c.1016G= (p.Ser339=)
c.877-1598G= (n.877-1598G=)
c.3065G= (p.Ser1022=)
c.3061-1598G= (n.3061-1598G=)
c.2786G= (p.Ser929=)
c.2731-1598G= (n.2731-1598G=)
c.1868G= (p.Ser623=)
n.3419G=
13g.51944152C>GCA388029922ATP7Bc.*894-1598G>C (n.*894-1598G>C)
c.*1944G>C (n.*1944G>C)
c.2579G>C (p.Ser860Thr)
c.3200G>C (p.Ser1067Thr)
c.2867G>C (p.Ser956Thr)
c.2948G>C (p.Ser983Thr)
c.2966G>C (p.Ser989Thr)
n.3339G>C
n.3563G>C
c.2135G>C (p.Ser712Thr)
c.1910G>C (p.Ser637Thr)
c.3005G>C (p.Ser1002Thr)
n.420G>C
c.1022-1598G>C
c.*301G>C (n.*301G>C)
n.3944G>C
n.2545G>C
c.3056G>C (p.Ser1019Thr)
c.3104G>C (p.Ser1035Thr)
c.3164G>C (p.Ser1055Thr)
c.2714G>C (p.Ser905Thr)
c.1016G>C (p.Ser339Thr)
c.877-1598G>C (n.877-1598G>C)
c.3065G>C (p.Ser1022Thr)
c.3061-1598G>C (n.3061-1598G>C)
c.2786G>C (p.Ser929Thr)
c.2731-1598G>C (n.2731-1598G>C)
c.1868G>C (p.Ser623Thr)
n.3419G>C
13g.51944152C>TCA388029924ATP7Bc.*894-1598G>A (n.*894-1598G>A)
c.*1944G>A (n.*1944G>A)
c.2579G>A (p.Ser860Asn)
c.3200G>A (p.Ser1067Asn)
c.2867G>A (p.Ser956Asn)
c.2948G>A (p.Ser983Asn)
c.2966G>A (p.Ser989Asn)
n.3339G>A
n.3563G>A
c.2135G>A (p.Ser712Asn)
c.1910G>A (p.Ser637Asn)
c.3005G>A (p.Ser1002Asn)
n.420G>A
c.1022-1598G>A
c.*301G>A (n.*301G>A)
n.3944G>A
n.2545G>A
c.3056G>A (p.Ser1019Asn)
c.3104G>A (p.Ser1035Asn)
c.3164G>A (p.Ser1055Asn)
c.2714G>A (p.Ser905Asn)
c.1016G>A (p.Ser339Asn)
c.877-1598G>A (n.877-1598G>A)
c.3065G>A (p.Ser1022Asn)
c.3061-1598G>A (n.3061-1598G>A)
c.2786G>A (p.Ser929Asn)
c.2731-1598G>A (n.2731-1598G>A)
c.1868G>A (p.Ser623Asn)
n.3419G>A
 ClinVar dbSNP gnomAD v4
13g.51944153T>ACA388029926ATP7Bc.*894-1599A>T (n.*894-1599A>T)
c.*1943A>T (n.*1943A>T)
c.2578A>T (p.Ser860Cys)
c.3199A>T (p.Ser1067Cys)
c.2866A>T (p.Ser956Cys)
c.2947A>T (p.Ser983Cys)
c.2965A>T (p.Ser989Cys)
n.3338A>T
n.3562A>T
c.2134A>T (p.Ser712Cys)
c.1909A>T (p.Ser637Cys)
c.3004A>T (p.Ser1002Cys)
n.419A>T
c.1022-1599A>T
c.*300A>T (n.*300A>T)
n.3943A>T
n.2544A>T
c.3055A>T (p.Ser1019Cys)
c.3103A>T (p.Ser1035Cys)
c.3163A>T (p.Ser1055Cys)
c.2713A>T (p.Ser905Cys)
c.1015A>T (p.Ser339Cys)
c.877-1599A>T (n.877-1599A>T)
c.3064A>T (p.Ser1022Cys)
c.3061-1599A>T (n.3061-1599A>T)
c.2785A>T (p.Ser929Cys)
c.2731-1599A>T (n.2731-1599A>T)
c.1867A>T (p.Ser623Cys)
n.3418A>T
13g.51944153T>CCA388029927ATP7Bc.*894-1599A>G (n.*894-1599A>G)
c.*1943A>G (n.*1943A>G)
c.2578A>G (p.Ser860Gly)
c.3199A>G (p.Ser1067Gly)
c.2866A>G (p.Ser956Gly)
c.2947A>G (p.Ser983Gly)
c.2965A>G (p.Ser989Gly)
n.3338A>G
n.3562A>G
c.2134A>G (p.Ser712Gly)
c.1909A>G (p.Ser637Gly)
c.3004A>G (p.Ser1002Gly)
n.419A>G
c.1022-1599A>G
c.*300A>G (n.*300A>G)
n.3943A>G
n.2544A>G
c.3055A>G (p.Ser1019Gly)
c.3103A>G (p.Ser1035Gly)
c.3163A>G (p.Ser1055Gly)
c.2713A>G (p.Ser905Gly)
c.1015A>G (p.Ser339Gly)
c.877-1599A>G (n.877-1599A>G)
c.3064A>G (p.Ser1022Gly)
c.3061-1599A>G (n.3061-1599A>G)
c.2785A>G (p.Ser929Gly)
c.2731-1599A>G (n.2731-1599A>G)
c.1867A>G (p.Ser623Gly)
n.3418A>G
 ClinVar
13g.51944153T>GCA388029928ATP7Bc.*894-1599A>C (n.*894-1599A>C)
c.*1943A>C (n.*1943A>C)
c.2578A>C (p.Ser860Arg)
c.3199A>C (p.Ser1067Arg)
c.2866A>C (p.Ser956Arg)
c.2947A>C (p.Ser983Arg)
c.2965A>C (p.Ser989Arg)
n.3338A>C
n.3562A>C
c.2134A>C (p.Ser712Arg)
c.1909A>C (p.Ser637Arg)
c.3004A>C (p.Ser1002Arg)
n.419A>C
c.1022-1599A>C
c.*300A>C (n.*300A>C)
n.3943A>C
n.2544A>C
c.3055A>C (p.Ser1019Arg)
c.3103A>C (p.Ser1035Arg)
c.3163A>C (p.Ser1055Arg)
c.2713A>C (p.Ser905Arg)
c.1015A>C (p.Ser339Arg)
c.877-1599A>C (n.877-1599A>C)
c.3064A>C (p.Ser1022Arg)
c.3061-1599A>C (n.3061-1599A>C)
c.2785A>C (p.Ser929Arg)
c.2731-1599A>C (n.2731-1599A>C)
c.1867A>C (p.Ser623Arg)
n.3418A>C
13g.51944154G>ACA483894656ATP7Bc.*894-1600C>T (n.*894-1600C>T)
c.*1942C>T (n.*1942C>T)
c.2577C>T (p.Ser859=)
c.3198C>T (p.Ser1066=)
c.2865C>T (p.Ser955=)
c.2946C>T (p.Ser982=)
c.2964C>T (p.Ser988=)
n.3337C>T
n.3561C>T
c.2133C>T (p.Ser711=)
c.1908C>T (p.Ser636=)
c.3003C>T (p.Ser1001=)
n.418C>T
c.1022-1600C>T
c.*299C>T (n.*299C>T)
n.3942C>T
n.2543C>T
c.3054C>T (p.Ser1018=)
c.3102C>T (p.Ser1034=)
c.3162C>T (p.Ser1054=)
c.2712C>T (p.Ser904=)
c.1014C>T (p.Ser338=)
c.877-1600C>T (n.877-1600C>T)
c.3063C>T (p.Ser1021=)
c.3061-1600C>T (n.3061-1600C>T)
c.2784C>T (p.Ser928=)
c.2731-1600C>T (n.2731-1600C>T)
c.1866C>T (p.Ser622=)
n.3417C>T
13g.51944154G>CCA388029932ATP7Bc.*894-1600C>G (n.*894-1600C>G)
c.*1942C>G (n.*1942C>G)
c.2577C>G (p.Ser859Arg)
c.3198C>G (p.Ser1066Arg)
c.2865C>G (p.Ser955Arg)
c.2946C>G (p.Ser982Arg)
c.2964C>G (p.Ser988Arg)
n.3337C>G
n.3561C>G
c.2133C>G (p.Ser711Arg)
c.1908C>G (p.Ser636Arg)
c.3003C>G (p.Ser1001Arg)
n.418C>G
c.1022-1600C>G
c.*299C>G (n.*299C>G)
n.3942C>G
n.2543C>G
c.3054C>G (p.Ser1018Arg)
c.3102C>G (p.Ser1034Arg)
c.3162C>G (p.Ser1054Arg)
c.2712C>G (p.Ser904Arg)
c.1014C>G (p.Ser338Arg)
c.877-1600C>G (n.877-1600C>G)
c.3063C>G (p.Ser1021Arg)
c.3061-1600C>G (n.3061-1600C>G)
c.2784C>G (p.Ser928Arg)
c.2731-1600C>G (n.2731-1600C>G)
c.1866C>G (p.Ser622Arg)
n.3417C>G
13g.51944154G>TCA388029929ATP7Bc.*894-1600C>A (n.*894-1600C>A)
c.*1942C>A (n.*1942C>A)
c.2577C>A (p.Ser859Arg)
c.3198C>A (p.Ser1066Arg)
c.2865C>A (p.Ser955Arg)
c.2946C>A (p.Ser982Arg)
c.2964C>A (p.Ser988Arg)
n.3337C>A
n.3561C>A
c.2133C>A (p.Ser711Arg)
c.1908C>A (p.Ser636Arg)
c.3003C>A (p.Ser1001Arg)
n.418C>A
c.1022-1600C>A
c.*299C>A (n.*299C>A)
n.3942C>A
n.2543C>A
c.3054C>A (p.Ser1018Arg)
c.3102C>A (p.Ser1034Arg)
c.3162C>A (p.Ser1054Arg)
c.2712C>A (p.Ser904Arg)
c.1014C>A (p.Ser338Arg)
c.877-1600C>A (n.877-1600C>A)
c.3063C>A (p.Ser1021Arg)
c.3061-1600C>A (n.3061-1600C>A)
c.2784C>A (p.Ser928Arg)
c.2731-1600C>A (n.2731-1600C>A)
c.1866C>A (p.Ser622Arg)
n.3417C>A
13g.51944155C>ACA388029934ATP7Bc.*894-1601G>T (n.*894-1601G>T)
c.*1941G>T (n.*1941G>T)
c.2576G>T (p.Ser859Ile)
c.3197G>T (p.Ser1066Ile)
c.2864G>T (p.Ser955Ile)
c.2945G>T (p.Ser982Ile)
c.2963G>T (p.Ser988Ile)
n.3336G>T
n.3560G>T
c.2132G>T (p.Ser711Ile)
c.1907G>T (p.Ser636Ile)
c.3002G>T (p.Ser1001Ile)
n.417G>T
c.1022-1601G>T
c.*298G>T (n.*298G>T)
n.3941G>T
n.2542G>T
c.3053G>T (p.Ser1018Ile)
c.3101G>T (p.Ser1034Ile)
c.3161G>T (p.Ser1054Ile)
c.2711G>T (p.Ser904Ile)
c.1013G>T (p.Ser338Ile)
c.877-1601G>T (n.877-1601G>T)
c.3062G>T (p.Ser1021Ile)
c.3061-1601G>T (n.3061-1601G>T)
c.2783G>T (p.Ser928Ile)
c.2731-1601G>T (n.2731-1601G>T)
c.1865G>T (p.Ser622Ile)
n.3416G>T
13g.51944155C=CA2091563824ATP7Bc.*894-1601G= (n.*894-1601G=)
c.*1941G= (n.*1941G=)
c.2576G= (p.Ser859=)
c.3197G= (p.Ser1066=)
c.2864G= (p.Ser955=)
c.2945G= (p.Ser982=)
c.2963G= (p.Ser988=)
n.3336G=
n.3560G=
c.2132G= (p.Ser711=)
c.1907G= (p.Ser636=)
c.3002G= (p.Ser1001=)
n.417G=
c.1022-1601G=
c.*298G= (n.*298G=)
n.3941G=
n.2542G=
c.3053G= (p.Ser1018=)
c.3101G= (p.Ser1034=)
c.3161G= (p.Ser1054=)
c.2711G= (p.Ser904=)
c.1013G= (p.Ser338=)
c.877-1601G= (n.877-1601G=)
c.3062G= (p.Ser1021=)
c.3061-1601G= (n.3061-1601G=)
c.2783G= (p.Ser928=)
c.2731-1601G= (n.2731-1601G=)
c.1865G= (p.Ser622=)
n.3416G=
13g.51944155C>GCA388029936ATP7Bc.*894-1601G>C (n.*894-1601G>C)
c.*1941G>C (n.*1941G>C)
c.2576G>C (p.Ser859Thr)
c.3197G>C (p.Ser1066Thr)
c.2864G>C (p.Ser955Thr)
c.2945G>C (p.Ser982Thr)
c.2963G>C (p.Ser988Thr)
n.3336G>C
n.3560G>C
c.2132G>C (p.Ser711Thr)
c.1907G>C (p.Ser636Thr)
c.3002G>C (p.Ser1001Thr)
n.417G>C
c.1022-1601G>C
c.*298G>C (n.*298G>C)
n.3941G>C
n.2542G>C
c.3053G>C (p.Ser1018Thr)
c.3101G>C (p.Ser1034Thr)
c.3161G>C (p.Ser1054Thr)
c.2711G>C (p.Ser904Thr)
c.1013G>C (p.Ser338Thr)
c.877-1601G>C (n.877-1601G>C)
c.3062G>C (p.Ser1021Thr)
c.3061-1601G>C (n.3061-1601G>C)
c.2783G>C (p.Ser928Thr)
c.2731-1601G>C (n.2731-1601G>C)
c.1865G>C (p.Ser622Thr)
n.3416G>C
13g.51944155C>TCA388029939ATP7Bc.*894-1601G>A (n.*894-1601G>A)
c.*1941G>A (n.*1941G>A)
c.2576G>A (p.Ser859Asn)
c.3197G>A (p.Ser1066Asn)
c.2864G>A (p.Ser955Asn)
c.2945G>A (p.Ser982Asn)
c.2963G>A (p.Ser988Asn)
n.3336G>A
n.3560G>A
c.2132G>A (p.Ser711Asn)
c.1907G>A (p.Ser636Asn)
c.3002G>A (p.Ser1001Asn)
n.417G>A
c.1022-1601G>A
c.*298G>A (n.*298G>A)
n.3941G>A
n.2542G>A
c.3053G>A (p.Ser1018Asn)
c.3101G>A (p.Ser1034Asn)
c.3161G>A (p.Ser1054Asn)
c.2711G>A (p.Ser904Asn)
c.1013G>A (p.Ser338Asn)
c.877-1601G>A (n.877-1601G>A)
c.3062G>A (p.Ser1021Asn)
c.3061-1601G>A (n.3061-1601G>A)
c.2783G>A (p.Ser928Asn)
c.2731-1601G>A (n.2731-1601G>A)
c.1865G>A (p.Ser622Asn)
n.3416G>A
 dbSNP gnomAD v3 gnomAD v4
13g.51944156T>ACA388029942ATP7Bc.*894-1602A>T (n.*894-1602A>T)
c.*1940A>T (n.*1940A>T)
c.2575A>T (p.Ser859Cys)
c.3196A>T (p.Ser1066Cys)
c.2863A>T (p.Ser955Cys)
c.2944A>T (p.Ser982Cys)
c.2962A>T (p.Ser988Cys)
n.3335A>T
n.3559A>T
c.2131A>T (p.Ser711Cys)
c.1906A>T (p.Ser636Cys)
c.3001A>T (p.Ser1001Cys)
n.416A>T
c.1022-1602A>T
c.*297A>T (n.*297A>T)
n.3940A>T
n.2541A>T
c.3052A>T (p.Ser1018Cys)
c.3100A>T (p.Ser1034Cys)
c.3160A>T (p.Ser1054Cys)
c.2710A>T (p.Ser904Cys)
c.1012A>T (p.Ser338Cys)
c.877-1602A>T (n.877-1602A>T)
c.3061A>T (p.Ser1021Cys)
c.3061-1602A>T (n.3061-1602A>T)
c.2782A>T (p.Ser928Cys)
c.2731-1602A>T (n.2731-1602A>T)
c.1864A>T (p.Ser622Cys)
n.3415A>T
13g.51944156T>CCA388029944ATP7Bc.*894-1602A>G (n.*894-1602A>G)
c.*1940A>G (n.*1940A>G)
c.2575A>G (p.Ser859Gly)
c.3196A>G (p.Ser1066Gly)
c.2863A>G (p.Ser955Gly)
c.2944A>G (p.Ser982Gly)
c.2962A>G (p.Ser988Gly)
n.3335A>G
n.3559A>G
c.2131A>G (p.Ser711Gly)
c.1906A>G (p.Ser636Gly)
c.3001A>G (p.Ser1001Gly)
n.416A>G
c.1022-1602A>G
c.*297A>G (n.*297A>G)
n.3940A>G
n.2541A>G
c.3052A>G (p.Ser1018Gly)
c.3100A>G (p.Ser1034Gly)
c.3160A>G (p.Ser1054Gly)
c.2710A>G (p.Ser904Gly)
c.1012A>G (p.Ser338Gly)
c.877-1602A>G (n.877-1602A>G)
c.3061A>G (p.Ser1021Gly)
c.3061-1602A>G (n.3061-1602A>G)
c.2782A>G (p.Ser928Gly)
c.2731-1602A>G (n.2731-1602A>G)
c.1864A>G (p.Ser622Gly)
n.3415A>G
 dbSNP gnomAD v2 gnomAD v4
13g.51944156T>GCA388029946ATP7Bc.*894-1602A>C (n.*894-1602A>C)
c.*1940A>C (n.*1940A>C)
c.2575A>C (p.Ser859Arg)
c.3196A>C (p.Ser1066Arg)
c.2863A>C (p.Ser955Arg)
c.2944A>C (p.Ser982Arg)
c.2962A>C (p.Ser988Arg)
n.3335A>C
n.3559A>C
c.2131A>C (p.Ser711Arg)
c.1906A>C (p.Ser636Arg)
c.3001A>C (p.Ser1001Arg)
n.416A>C
c.1022-1602A>C
c.*297A>C (n.*297A>C)
n.3940A>C
n.2541A>C
c.3052A>C (p.Ser1018Arg)
c.3100A>C (p.Ser1034Arg)
c.3160A>C (p.Ser1054Arg)
c.2710A>C (p.Ser904Arg)
c.1012A>C (p.Ser338Arg)
c.877-1602A>C (n.877-1602A>C)
c.3061A>C (p.Ser1021Arg)
c.3061-1602A>C (n.3061-1602A>C)
c.2782A>C (p.Ser928Arg)
c.2731-1602A>C (n.2731-1602A>C)
c.1864A>C (p.Ser622Arg)
n.3415A>C
13g.51944156T=CA2091563828ATP7Bc.*894-1602A= (n.*894-1602A=)
c.*1940A= (n.*1940A=)
c.2575A= (p.Ser859=)
c.3196A= (p.Ser1066=)
c.2863A= (p.Ser955=)
c.2944A= (p.Ser982=)
c.2962A= (p.Ser988=)
n.3335A=
n.3559A=
c.2131A= (p.Ser711=)
c.1906A= (p.Ser636=)
c.3001A= (p.Ser1001=)
n.416A=
c.1022-1602A=
c.*297A= (n.*297A=)
n.3940A=
n.2541A=
c.3052A= (p.Ser1018=)
c.3100A= (p.Ser1034=)
c.3160A= (p.Ser1054=)
c.2710A= (p.Ser904=)
c.1012A= (p.Ser338=)
c.877-1602A= (n.877-1602A=)
c.3061A= (p.Ser1021=)
c.3061-1602A= (n.3061-1602A=)
c.2782A= (p.Ser928=)
c.2731-1602A= (n.2731-1602A=)
c.1864A= (p.Ser622=)
n.3415A=
13g.51944157G>ACA483894658ATP7Bc.*894-1603C>T (n.*894-1603C>T)
c.*1939C>T (n.*1939C>T)
c.2574C>T (p.Ala858=)
c.3195C>T (p.Ala1065=)
c.2862C>T (p.Ala954=)
c.2943C>T (p.Ala981=)
c.2961C>T (p.Ala987=)
n.3334C>T
n.3558C>T
c.2130C>T (p.Ala710=)
c.1905C>T (p.Ala635=)
c.3000C>T (p.Ala1000=)
n.415C>T
c.1022-1603C>T
c.*296C>T (n.*296C>T)
n.3939C>T
n.2540C>T
c.3051C>T (p.Ala1017=)
c.3099C>T (p.Ala1033=)
c.3159C>T (p.Ala1053=)
c.2709C>T (p.Ala903=)
c.1011C>T (p.Ala337=)
c.877-1603C>T (n.877-1603C>T)
c.3060C>T (p.Ala1020=)
c.3061-1603C>T (n.3061-1603C>T)
c.2781C>T (p.Ala927=)
c.2731-1603C>T (n.2731-1603C>T)
c.1863C>T (p.Ala621=)
n.3414C>T
13g.51944157G>CCA483894659ATP7Bc.*894-1603C>G (n.*894-1603C>G)
c.*1939C>G (n.*1939C>G)
c.2574C>G (p.Ala858=)
c.3195C>G (p.Ala1065=)
c.2862C>G (p.Ala954=)
c.2943C>G (p.Ala981=)
c.2961C>G (p.Ala987=)
n.3334C>G
n.3558C>G
c.2130C>G (p.Ala710=)
c.1905C>G (p.Ala635=)
c.3000C>G (p.Ala1000=)
n.415C>G
c.1022-1603C>G
c.*296C>G (n.*296C>G)
n.3939C>G
n.2540C>G
c.3051C>G (p.Ala1017=)
c.3099C>G (p.Ala1033=)
c.3159C>G (p.Ala1053=)
c.2709C>G (p.Ala903=)
c.1011C>G (p.Ala337=)
c.877-1603C>G (n.877-1603C>G)
c.3060C>G (p.Ala1020=)
c.3061-1603C>G (n.3061-1603C>G)
c.2781C>G (p.Ala927=)
c.2731-1603C>G (n.2731-1603C>G)
c.1863C>G (p.Ala621=)
n.3414C>G
13g.51944157G>TCA483894660ATP7Bc.*894-1603C>A (n.*894-1603C>A)
c.*1939C>A (n.*1939C>A)
c.2574C>A (p.Ala858=)
c.3195C>A (p.Ala1065=)
c.2862C>A (p.Ala954=)
c.2943C>A (p.Ala981=)
c.2961C>A (p.Ala987=)
n.3334C>A
n.3558C>A
c.2130C>A (p.Ala710=)
c.1905C>A (p.Ala635=)
c.3000C>A (p.Ala1000=)
n.415C>A
c.1022-1603C>A
c.*296C>A (n.*296C>A)
n.3939C>A
n.2540C>A
c.3051C>A (p.Ala1017=)
c.3099C>A (p.Ala1033=)
c.3159C>A (p.Ala1053=)
c.2709C>A (p.Ala903=)
c.1011C>A (p.Ala337=)
c.877-1603C>A (n.877-1603C>A)
c.3060C>A (p.Ala1020=)
c.3061-1603C>A (n.3061-1603C>A)
c.2781C>A (p.Ala927=)
c.2731-1603C>A (n.2731-1603C>A)
c.1863C>A (p.Ala621=)
n.3414C>A
13g.51944158G>ACA388029954ATP7Bc.*894-1604C>T (n.*894-1604C>T)
c.*1938C>T (n.*1938C>T)
c.2573C>T (p.Ala858Val)
c.3194C>T (p.Ala1065Val)
c.2861C>T (p.Ala954Val)
c.2942C>T (p.Ala981Val)
c.2960C>T (p.Ala987Val)
n.3333C>T
n.3557C>T
c.2129C>T (p.Ala710Val)
c.1904C>T (p.Ala635Val)
c.2999C>T (p.Ala1000Val)
n.414C>T
c.1022-1604C>T
c.*295C>T (n.*295C>T)
n.3938C>T
n.2539C>T
c.3050C>T (p.Ala1017Val)
c.3098C>T (p.Ala1033Val)
c.3158C>T (p.Ala1053Val)
c.2708C>T (p.Ala903Val)
c.1010C>T (p.Ala337Val)
c.877-1604C>T (n.877-1604C>T)
c.3059C>T (p.Ala1020Val)
c.3061-1604C>T (n.3061-1604C>T)
c.2780C>T (p.Ala927Val)
c.2731-1604C>T (n.2731-1604C>T)
c.1862C>T (p.Ala621Val)
n.3413C>T
 gnomAD v4
13g.51944158G>CCA388029949ATP7Bc.*894-1604C>G (n.*894-1604C>G)
c.*1938C>G (n.*1938C>G)
c.2573C>G (p.Ala858Gly)
c.3194C>G (p.Ala1065Gly)
c.2861C>G (p.Ala954Gly)
c.2942C>G (p.Ala981Gly)
c.2960C>G (p.Ala987Gly)
n.3333C>G
n.3557C>G
c.2129C>G (p.Ala710Gly)
c.1904C>G (p.Ala635Gly)
c.2999C>G (p.Ala1000Gly)
n.414C>G
c.1022-1604C>G
c.*295C>G (n.*295C>G)
n.3938C>G
n.2539C>G
c.3050C>G (p.Ala1017Gly)
c.3098C>G (p.Ala1033Gly)
c.3158C>G (p.Ala1053Gly)
c.2708C>G (p.Ala903Gly)
c.1010C>G (p.Ala337Gly)
c.877-1604C>G (n.877-1604C>G)
c.3059C>G (p.Ala1020Gly)
c.3061-1604C>G (n.3061-1604C>G)
c.2780C>G (p.Ala927Gly)
c.2731-1604C>G (n.2731-1604C>G)
c.1862C>G (p.Ala621Gly)
n.3413C>G
13g.51944158G>TCA388029952ATP7Bc.*894-1604C>A (n.*894-1604C>A)
c.*1938C>A (n.*1938C>A)
c.2573C>A (p.Ala858Asp)
c.3194C>A (p.Ala1065Asp)
c.2861C>A (p.Ala954Asp)
c.2942C>A (p.Ala981Asp)
c.2960C>A (p.Ala987Asp)
n.3333C>A
n.3557C>A
c.2129C>A (p.Ala710Asp)
c.1904C>A (p.Ala635Asp)
c.2999C>A (p.Ala1000Asp)
n.414C>A
c.1022-1604C>A
c.*295C>A (n.*295C>A)
n.3938C>A
n.2539C>A
c.3050C>A (p.Ala1017Asp)
c.3098C>A (p.Ala1033Asp)
c.3158C>A (p.Ala1053Asp)
c.2708C>A (p.Ala903Asp)
c.1010C>A (p.Ala337Asp)
c.877-1604C>A (n.877-1604C>A)
c.3059C>A (p.Ala1020Asp)
c.3061-1604C>A (n.3061-1604C>A)
c.2780C>A (p.Ala927Asp)
c.2731-1604C>A (n.2731-1604C>A)
c.1862C>A (p.Ala621Asp)
n.3413C>A
 COSMIC
13g.51944159C>ACA388029957ATP7Bc.*894-1605G>T (n.*894-1605G>T)
c.*1937G>T (n.*1937G>T)
c.2572G>T (p.Ala858Ser)
c.3193G>T (p.Ala1065Ser)
c.2860G>T (p.Ala954Ser)
c.2941G>T (p.Ala981Ser)
c.2959G>T (p.Ala987Ser)
n.3332G>T
n.3556G>T
c.2128G>T (p.Ala710Ser)
c.1903G>T (p.Ala635Ser)
c.2998G>T (p.Ala1000Ser)
n.413G>T
c.1022-1605G>T
c.*294G>T (n.*294G>T)
n.3937G>T
n.2538G>T
c.3049G>T (p.Ala1017Ser)
c.3097G>T (p.Ala1033Ser)
c.3157G>T (p.Ala1053Ser)
c.2707G>T (p.Ala903Ser)
c.1009G>T (p.Ala337Ser)
c.877-1605G>T (n.877-1605G>T)
c.3058G>T (p.Ala1020Ser)
c.3061-1605G>T (n.3061-1605G>T)
c.2779G>T (p.Ala927Ser)
c.2731-1605G>T (n.2731-1605G>T)
c.1861G>T (p.Ala621Ser)
n.3412G>T
13g.51944159C>GCA388029958ATP7Bc.*894-1605G>C (n.*894-1605G>C)
c.*1937G>C (n.*1937G>C)
c.2572G>C (p.Ala858Pro)
c.3193G>C (p.Ala1065Pro)
c.2860G>C (p.Ala954Pro)
c.2941G>C (p.Ala981Pro)
c.2959G>C (p.Ala987Pro)
n.3332G>C
n.3556G>C
c.2128G>C (p.Ala710Pro)
c.1903G>C (p.Ala635Pro)
c.2998G>C (p.Ala1000Pro)
n.413G>C
c.1022-1605G>C
c.*294G>C (n.*294G>C)
n.3937G>C
n.2538G>C
c.3049G>C (p.Ala1017Pro)
c.3097G>C (p.Ala1033Pro)
c.3157G>C (p.Ala1053Pro)
c.2707G>C (p.Ala903Pro)
c.1009G>C (p.Ala337Pro)
c.877-1605G>C (n.877-1605G>C)
c.3058G>C (p.Ala1020Pro)
c.3061-1605G>C (n.3061-1605G>C)
c.2779G>C (p.Ala927Pro)
c.2731-1605G>C (n.2731-1605G>C)
c.1861G>C (p.Ala621Pro)
n.3412G>C
13g.51944159C>TCA388029959ATP7Bc.*894-1605G>A (n.*894-1605G>A)
c.*1937G>A (n.*1937G>A)
c.2572G>A (p.Ala858Thr)
c.3193G>A (p.Ala1065Thr)
c.2860G>A (p.Ala954Thr)
c.2941G>A (p.Ala981Thr)
c.2959G>A (p.Ala987Thr)
n.3332G>A
n.3556G>A
c.2128G>A (p.Ala710Thr)
c.1903G>A (p.Ala635Thr)
c.2998G>A (p.Ala1000Thr)
n.413G>A
c.1022-1605G>A
c.*294G>A (n.*294G>A)
n.3937G>A
n.2538G>A
c.3049G>A (p.Ala1017Thr)
c.3097G>A (p.Ala1033Thr)
c.3157G>A (p.Ala1053Thr)
c.2707G>A (p.Ala903Thr)
c.1009G>A (p.Ala337Thr)
c.877-1605G>A (n.877-1605G>A)
c.3058G>A (p.Ala1020Thr)
c.3061-1605G>A (n.3061-1605G>A)
c.2779G>A (p.Ala927Thr)
c.2731-1605G>A (n.2731-1605G>A)
c.1861G>A (p.Ala621Thr)
n.3412G>A
13g.51944160C>ACA388029961ATP7Bc.*894-1606G>T (n.*894-1606G>T)
c.*1936G>T (n.*1936G>T)
c.2571G>T (p.Glu857Asp)
c.3192G>T (p.Glu1064Asp)
c.2859G>T (p.Glu953Asp)
c.2940G>T (p.Glu980Asp)
c.2958G>T (p.Glu986Asp)
n.3331G>T
n.3555G>T
c.2127G>T (p.Glu709Asp)
c.1902G>T (p.Glu634Asp)
c.2997G>T (p.Glu999Asp)
n.412G>T
c.1022-1606G>T
c.*293G>T (n.*293G>T)
n.3936G>T
n.2537G>T
c.3048G>T (p.Glu1016Asp)
c.3096G>T (p.Glu1032Asp)
c.3156G>T (p.Glu1052Asp)
c.2706G>T (p.Glu902Asp)
c.1008G>T (p.Glu336Asp)
c.877-1606G>T (n.877-1606G>T)
c.3057G>T (p.Glu1019Asp)
c.3061-1606G>T (n.3061-1606G>T)
c.2778G>T (p.Glu926Asp)
c.2731-1606G>T (n.2731-1606G>T)
c.1860G>T (p.Glu620Asp)
n.3411G>T
13g.51944160C>GCA388029963ATP7Bc.*894-1606G>C (n.*894-1606G>C)
c.*1936G>C (n.*1936G>C)
c.2571G>C (p.Glu857Asp)
c.3192G>C (p.Glu1064Asp)
c.2859G>C (p.Glu953Asp)
c.2940G>C (p.Glu980Asp)
c.2958G>C (p.Glu986Asp)
n.3331G>C
n.3555G>C
c.2127G>C (p.Glu709Asp)
c.1902G>C (p.Glu634Asp)
c.2997G>C (p.Glu999Asp)
n.412G>C
c.1022-1606G>C
c.*293G>C (n.*293G>C)
n.3936G>C
n.2537G>C
c.3048G>C (p.Glu1016Asp)
c.3096G>C (p.Glu1032Asp)
c.3156G>C (p.Glu1052Asp)
c.2706G>C (p.Glu902Asp)
c.1008G>C (p.Glu336Asp)
c.877-1606G>C (n.877-1606G>C)
c.3057G>C (p.Glu1019Asp)
c.3061-1606G>C (n.3061-1606G>C)
c.2778G>C (p.Glu926Asp)
c.2731-1606G>C (n.2731-1606G>C)
c.1860G>C (p.Glu620Asp)
n.3411G>C
13g.51944160C>TCA483894662ATP7Bc.*894-1606G>A (n.*894-1606G>A)
c.*1936G>A (n.*1936G>A)
c.2571G>A (p.Glu857=)
c.3192G>A (p.Glu1064=)
c.2859G>A (p.Glu953=)
c.2940G>A (p.Glu980=)
c.2958G>A (p.Glu986=)
n.3331G>A
n.3555G>A
c.2127G>A (p.Glu709=)
c.1902G>A (p.Glu634=)
c.2997G>A (p.Glu999=)
n.412G>A
c.1022-1606G>A
c.*293G>A (n.*293G>A)
n.3936G>A
n.2537G>A
c.3048G>A (p.Glu1016=)
c.3096G>A (p.Glu1032=)
c.3156G>A (p.Glu1052=)
c.2706G>A (p.Glu902=)
c.1008G>A (p.Glu336=)
c.877-1606G>A (n.877-1606G>A)
c.3057G>A (p.Glu1019=)
c.3061-1606G>A (n.3061-1606G>A)
c.2778G>A (p.Glu926=)
c.2731-1606G>A (n.2731-1606G>A)
c.1860G>A (p.Glu620=)
n.3411G>A
 gnomAD v4
13g.51944161T>ACA388029967ATP7Bc.*894-1607A>T (n.*894-1607A>T)
c.*1935A>T (n.*1935A>T)
c.2570A>T (p.Glu857Val)
c.3191A>T (p.Glu1064Val)
c.2858A>T (p.Glu953Val)
c.2939A>T (p.Glu980Val)
c.2957A>T (p.Glu986Val)
n.3330A>T
n.3554A>T
c.2126A>T (p.Glu709Val)
c.1901A>T (p.Glu634Val)
c.2996A>T (p.Glu999Val)
n.411A>T
c.1022-1607A>T
c.*292A>T (n.*292A>T)
n.3935A>T
n.2536A>T
c.3047A>T (p.Glu1016Val)
c.3095A>T (p.Glu1032Val)
c.3155A>T (p.Glu1052Val)
c.2705A>T (p.Glu902Val)
c.1007A>T (p.Glu336Val)
c.877-1607A>T (n.877-1607A>T)
c.3056A>T (p.Glu1019Val)
c.3061-1607A>T (n.3061-1607A>T)
c.2777A>T (p.Glu926Val)
c.2731-1607A>T (n.2731-1607A>T)
c.1859A>T (p.Glu620Val)
n.3410A>T
13g.51944161T>CCA388029971ATP7Bc.*894-1607A>G (n.*894-1607A>G)
c.*1935A>G (n.*1935A>G)
c.2570A>G (p.Glu857Gly)
c.3191A>G (p.Glu1064Gly)
c.2858A>G (p.Glu953Gly)
c.2939A>G (p.Glu980Gly)
c.2957A>G (p.Glu986Gly)
n.3330A>G
n.3554A>G
c.2126A>G (p.Glu709Gly)
c.1901A>G (p.Glu634Gly)
c.2996A>G (p.Glu999Gly)
n.411A>G
c.1022-1607A>G
c.*292A>G (n.*292A>G)
n.3935A>G
n.2536A>G
c.3047A>G (p.Glu1016Gly)
c.3095A>G (p.Glu1032Gly)
c.3155A>G (p.Glu1052Gly)
c.2705A>G (p.Glu902Gly)
c.1007A>G (p.Glu336Gly)
c.877-1607A>G (n.877-1607A>G)
c.3056A>G (p.Glu1019Gly)
c.3061-1607A>G (n.3061-1607A>G)
c.2777A>G (p.Glu926Gly)
c.2731-1607A>G (n.2731-1607A>G)
c.1859A>G (p.Glu620Gly)
n.3410A>G
13g.51944161T>GCA6988781ATP7Bc.*894-1607A>C (n.*894-1607A>C)
c.*1935A>C (n.*1935A>C)
c.2570A>C (p.Glu857Ala)
c.3191A>C (p.Glu1064Ala)
c.2858A>C (p.Glu953Ala)
c.2939A>C (p.Glu980Ala)
c.2957A>C (p.Glu986Ala)
n.3330A>C
n.3554A>C
c.2126A>C (p.Glu709Ala)
c.1901A>C (p.Glu634Ala)
c.2996A>C (p.Glu999Ala)
n.411A>C
c.1022-1607A>C
c.*292A>C (n.*292A>C)
n.3935A>C
n.2536A>C
c.3047A>C (p.Glu1016Ala)
c.3095A>C (p.Glu1032Ala)
c.3155A>C (p.Glu1052Ala)
c.2705A>C (p.Glu902Ala)
c.1007A>C (p.Glu336Ala)
c.877-1607A>C (n.877-1607A>C)
c.3056A>C (p.Glu1019Ala)
c.3061-1607A>C (n.3061-1607A>C)
c.2777A>C (p.Glu926Ala)
c.2731-1607A>C (n.2731-1607A>C)
c.1859A>C (p.Glu620Ala)
n.3410A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944161T=CA2091563833ATP7Bc.*894-1607A= (n.*894-1607A=)
c.*1935A= (n.*1935A=)
c.2570A= (p.Glu857=)
c.3191A= (p.Glu1064=)
c.2858A= (p.Glu953=)
c.2939A= (p.Glu980=)
c.2957A= (p.Glu986=)
n.3330A=
n.3554A=
c.2126A= (p.Glu709=)
c.1901A= (p.Glu634=)
c.2996A= (p.Glu999=)
n.411A=
c.1022-1607A=
c.*292A= (n.*292A=)
n.3935A=
n.2536A=
c.3047A= (p.Glu1016=)
c.3095A= (p.Glu1032=)
c.3155A= (p.Glu1052=)
c.2705A= (p.Glu902=)
c.1007A= (p.Glu336=)
c.877-1607A= (n.877-1607A=)
c.3056A= (p.Glu1019=)
c.3061-1607A= (n.3061-1607A=)
c.2777A= (p.Glu926=)
c.2731-1607A= (n.2731-1607A=)
c.1859A= (p.Glu620=)
n.3410A=
13g.51944162C>ACA388029973ATP7Bc.*894-1608G>T (n.*894-1608G>T)
c.*1934G>T (n.*1934G>T)
c.2569G>T (p.Glu857Ter)
c.3190G>T (p.Glu1064Ter)
c.2857G>T (p.Glu953Ter)
c.2938G>T (p.Glu980Ter)
c.2956G>T (p.Glu986Ter)
n.3329G>T
n.3553G>T
c.2125G>T (p.Glu709Ter)
c.1900G>T (p.Glu634Ter)
c.2995G>T (p.Glu999Ter)
n.410G>T
c.1022-1608G>T
c.*291G>T (n.*291G>T)
n.3934G>T
n.2535G>T
c.3046G>T (p.Glu1016Ter)
c.3094G>T (p.Glu1032Ter)
c.3154G>T (p.Glu1052Ter)
c.2704G>T (p.Glu902Ter)
c.1006G>T (p.Glu336Ter)
c.877-1608G>T (n.877-1608G>T)
c.3055G>T (p.Glu1019Ter)
c.3061-1608G>T (n.3061-1608G>T)
c.2776G>T (p.Glu926Ter)
c.2731-1608G>T (n.2731-1608G>T)
c.1858G>T (p.Glu620Ter)
n.3409G>T
13g.51944162C=CA2091563842ATP7Bc.*894-1608G= (n.*894-1608G=)
c.*1934G= (n.*1934G=)
c.2569G= (p.Glu857=)
c.3190G= (p.Glu1064=)
c.2857G= (p.Glu953=)
c.2938G= (p.Glu980=)
c.2956G= (p.Glu986=)
n.3329G=
n.3553G=
c.2125G= (p.Glu709=)
c.1900G= (p.Glu634=)
c.2995G= (p.Glu999=)
n.410G=
c.1022-1608G=
c.*291G= (n.*291G=)
n.3934G=
n.2535G=
c.3046G= (p.Glu1016=)
c.3094G= (p.Glu1032=)
c.3154G= (p.Glu1052=)
c.2704G= (p.Glu902=)
c.1006G= (p.Glu336=)
c.877-1608G= (n.877-1608G=)
c.3055G= (p.Glu1019=)
c.3061-1608G= (n.3061-1608G=)
c.2776G= (p.Glu926=)
c.2731-1608G= (n.2731-1608G=)
c.1858G= (p.Glu620=)
n.3409G=
13g.51944162C>GCA388029975ATP7Bc.*894-1608G>C (n.*894-1608G>C)
c.*1934G>C (n.*1934G>C)
c.2569G>C (p.Glu857Gln)
c.3190G>C (p.Glu1064Gln)
c.2857G>C (p.Glu953Gln)
c.2938G>C (p.Glu980Gln)
c.2956G>C (p.Glu986Gln)
n.3329G>C
n.3553G>C
c.2125G>C (p.Glu709Gln)
c.1900G>C (p.Glu634Gln)
c.2995G>C (p.Glu999Gln)
n.410G>C
c.1022-1608G>C
c.*291G>C (n.*291G>C)
n.3934G>C
n.2535G>C
c.3046G>C (p.Glu1016Gln)
c.3094G>C (p.Glu1032Gln)
c.3154G>C (p.Glu1052Gln)
c.2704G>C (p.Glu902Gln)
c.1006G>C (p.Glu336Gln)
c.877-1608G>C (n.877-1608G>C)
c.3055G>C (p.Glu1019Gln)
c.3061-1608G>C (n.3061-1608G>C)
c.2776G>C (p.Glu926Gln)
c.2731-1608G>C (n.2731-1608G>C)
c.1858G>C (p.Glu620Gln)
n.3409G>C
13g.51944162C>TCA6988782ATP7Bc.*894-1608G>A (n.*894-1608G>A)
c.*1934G>A (n.*1934G>A)
c.2569G>A (p.Glu857Lys)
c.3190G>A (p.Glu1064Lys)
c.2857G>A (p.Glu953Lys)
c.2938G>A (p.Glu980Lys)
c.2956G>A (p.Glu986Lys)
n.3329G>A
n.3553G>A
c.2125G>A (p.Glu709Lys)
c.1900G>A (p.Glu634Lys)
c.2995G>A (p.Glu999Lys)
n.410G>A
c.1022-1608G>A
c.*291G>A (n.*291G>A)
n.3934G>A
n.2535G>A
c.3046G>A (p.Glu1016Lys)
c.3094G>A (p.Glu1032Lys)
c.3154G>A (p.Glu1052Lys)
c.2704G>A (p.Glu902Lys)
c.1006G>A (p.Glu336Lys)
c.877-1608G>A (n.877-1608G>A)
c.3055G>A (p.Glu1019Lys)
c.3061-1608G>A (n.3061-1608G>A)
c.2776G>A (p.Glu926Lys)
c.2731-1608G>A (n.2731-1608G>A)
c.1858G>A (p.Glu620Lys)
n.3409G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944163dupCA2580087652ATP7Bc.*894-1608dup (n.*894-1608dup)
c.*1934dup (n.*1934dup)
c.2569dup (p.Glu857GlyfsTer5)
c.3190dup (p.Glu1064GlyfsTer5)
c.2857dup (p.Glu953GlyfsTer5)
c.2938dup (p.Glu980GlyfsTer5)
c.2956dup (p.Glu986GlyfsTer5)
n.3329dup
n.3553dup
c.2125dup (p.Glu709GlyfsTer5)
c.1900dup (p.Glu634GlyfsTer5)
c.2995dup (p.Glu999GlyfsTer5)
n.410dup
c.1022-1608dup
c.*291dup (n.*291dup)
n.3934dup
n.2535dup
c.3046dup (p.Glu1016GlyfsTer5)
c.3094dup (p.Glu1032GlyfsTer5)
c.3154dup (p.Glu1052GlyfsTer5)
c.2704dup (p.Glu902GlyfsTer5)
c.1006dup (p.Glu336GlyfsTer5)
c.877-1608dup (n.877-1608dup)
c.3055dup (p.Glu1019GlyfsTer5)
c.3061-1608dup (n.3061-1608dup)
c.2776dup (p.Glu926GlyfsTer5)
c.2731-1608dup (n.2731-1608dup)
c.1858dup (p.Glu620GlyfsTer5)
n.3409dup
 ClinVar
13g.51944163C>ACA483894664ATP7Bc.*894-1609G>T (n.*894-1609G>T)
c.*1933G>T (n.*1933G>T)
c.2568G>T (p.Ala856=)
c.3189G>T (p.Ala1063=)
c.2856G>T (p.Ala952=)
c.2937G>T (p.Ala979=)
c.2955G>T (p.Ala985=)
n.3328G>T
n.3552G>T
c.2124G>T (p.Ala708=)
c.1899G>T (p.Ala633=)
c.2994G>T (p.Ala998=)
n.409G>T
c.1022-1609G>T
c.*290G>T (n.*290G>T)
n.3933G>T
n.2534G>T
c.3045G>T (p.Ala1015=)
c.3093G>T (p.Ala1031=)
c.3153G>T (p.Ala1051=)
c.2703G>T (p.Ala901=)
c.1005G>T (p.Ala335=)
c.877-1609G>T (n.877-1609G>T)
c.3054G>T (p.Ala1018=)
c.3061-1609G>T (n.3061-1609G>T)
c.2775G>T (p.Ala925=)
c.2731-1609G>T (n.2731-1609G>T)
c.1857G>T (p.Ala619=)
n.3408G>T
13g.51944163C=CA2091563846ATP7Bc.*894-1609G= (n.*894-1609G=)
c.*1933G= (n.*1933G=)
c.2568G= (p.Ala856=)
c.3189G= (p.Ala1063=)
c.2856G= (p.Ala952=)
c.2937G= (p.Ala979=)
c.2955G= (p.Ala985=)
n.3328G=
n.3552G=
c.2124G= (p.Ala708=)
c.1899G= (p.Ala633=)
c.2994G= (p.Ala998=)
n.409G=
c.1022-1609G=
c.*290G= (n.*290G=)
n.3933G=
n.2534G=
c.3045G= (p.Ala1015=)
c.3093G= (p.Ala1031=)
c.3153G= (p.Ala1051=)
c.2703G= (p.Ala901=)
c.1005G= (p.Ala335=)
c.877-1609G= (n.877-1609G=)
c.3054G= (p.Ala1018=)
c.3061-1609G= (n.3061-1609G=)
c.2775G= (p.Ala925=)
c.2731-1609G= (n.2731-1609G=)
c.1857G= (p.Ala619=)
n.3408G=
13g.51944163C>GCA483894665ATP7Bc.*894-1609G>C (n.*894-1609G>C)
c.*1933G>C (n.*1933G>C)
c.2568G>C (p.Ala856=)
c.3189G>C (p.Ala1063=)
c.2856G>C (p.Ala952=)
c.2937G>C (p.Ala979=)
c.2955G>C (p.Ala985=)
n.3328G>C
n.3552G>C
c.2124G>C (p.Ala708=)
c.1899G>C (p.Ala633=)
c.2994G>C (p.Ala998=)
n.409G>C
c.1022-1609G>C
c.*290G>C (n.*290G>C)
n.3933G>C
n.2534G>C
c.3045G>C (p.Ala1015=)
c.3093G>C (p.Ala1031=)
c.3153G>C (p.Ala1051=)
c.2703G>C (p.Ala901=)
c.1005G>C (p.Ala335=)
c.877-1609G>C (n.877-1609G>C)
c.3054G>C (p.Ala1018=)
c.3061-1609G>C (n.3061-1609G>C)
c.2775G>C (p.Ala925=)
c.2731-1609G>C (n.2731-1609G>C)
c.1857G>C (p.Ala619=)
n.3408G>C
13g.51944163C>TCA6988783ATP7Bc.*894-1609G>A (n.*894-1609G>A)
c.*1933G>A (n.*1933G>A)
c.2568G>A (p.Ala856=)
c.3189G>A (p.Ala1063=)
c.2856G>A (p.Ala952=)
c.2937G>A (p.Ala979=)
c.2955G>A (p.Ala985=)
n.3328G>A
n.3552G>A
c.2124G>A (p.Ala708=)
c.1899G>A (p.Ala633=)
c.2994G>A (p.Ala998=)
n.409G>A
c.1022-1609G>A
c.*290G>A (n.*290G>A)
n.3933G>A
n.2534G>A
c.3045G>A (p.Ala1015=)
c.3093G>A (p.Ala1031=)
c.3153G>A (p.Ala1051=)
c.2703G>A (p.Ala901=)
c.1005G>A (p.Ala335=)
c.877-1609G>A (n.877-1609G>A)
c.3054G>A (p.Ala1018=)
c.3061-1609G>A (n.3061-1609G>A)
c.2775G>A (p.Ala925=)
c.2731-1609G>A (n.2731-1609G>A)
c.1857G>A (p.Ala619=)
n.3408G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944164G>ACA171310ATP7Bc.*894-1610C>T (n.*894-1610C>T)
c.*1932C>T (n.*1932C>T)
c.2567C>T (p.Ala856Val)
c.3188C>T (p.Ala1063Val)
c.2855C>T (p.Ala952Val)
c.2936C>T (p.Ala979Val)
c.2954C>T (p.Ala985Val)
n.3327C>T
n.3551C>T
c.2123C>T (p.Ala708Val)
c.1898C>T (p.Ala633Val)
c.2993C>T (p.Ala998Val)
n.408C>T
c.1022-1610C>T
c.*289C>T (n.*289C>T)
n.3932C>T
n.2533C>T
c.3044C>T (p.Ala1015Val)
c.3092C>T (p.Ala1031Val)
c.3152C>T (p.Ala1051Val)
c.2702C>T (p.Ala901Val)
c.1004C>T (p.Ala335Val)
c.877-1610C>T (n.877-1610C>T)
c.3053C>T (p.Ala1018Val)
c.3061-1610C>T (n.3061-1610C>T)
c.2774C>T (p.Ala925Val)
c.2731-1610C>T (n.2731-1610C>T)
c.1856C>T (p.Ala619Val)
n.3407C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
13g.51944164G>CCA388029980ATP7Bc.*894-1610C>G (n.*894-1610C>G)
c.*1932C>G (n.*1932C>G)
c.2567C>G (p.Ala856Gly)
c.3188C>G (p.Ala1063Gly)
c.2855C>G (p.Ala952Gly)
c.2936C>G (p.Ala979Gly)
c.2954C>G (p.Ala985Gly)
n.3327C>G
n.3551C>G
c.2123C>G (p.Ala708Gly)
c.1898C>G (p.Ala633Gly)
c.2993C>G (p.Ala998Gly)
n.408C>G
c.1022-1610C>G
c.*289C>G (n.*289C>G)
n.3932C>G
n.2533C>G
c.3044C>G (p.Ala1015Gly)
c.3092C>G (p.Ala1031Gly)
c.3152C>G (p.Ala1051Gly)
c.2702C>G (p.Ala901Gly)
c.1004C>G (p.Ala335Gly)
c.877-1610C>G (n.877-1610C>G)
c.3053C>G (p.Ala1018Gly)
c.3061-1610C>G (n.3061-1610C>G)
c.2774C>G (p.Ala925Gly)
c.2731-1610C>G (n.2731-1610C>G)
c.1856C>G (p.Ala619Gly)
n.3407C>G
 COSMIC
13g.51944164G=CA2091563850ATP7Bc.*894-1610C= (n.*894-1610C=)
c.*1932C= (n.*1932C=)
c.2567C= (p.Ala856=)
c.3188C= (p.Ala1063=)
c.2855C= (p.Ala952=)
c.2936C= (p.Ala979=)
c.2954C= (p.Ala985=)
n.3327C=
n.3551C=
c.2123C= (p.Ala708=)
c.1898C= (p.Ala633=)
c.2993C= (p.Ala998=)
n.408C=
c.1022-1610C=
c.*289C= (n.*289C=)
n.3932C=
n.2533C=
c.3044C= (p.Ala1015=)
c.3092C= (p.Ala1031=)
c.3152C= (p.Ala1051=)
c.2702C= (p.Ala901=)
c.1004C= (p.Ala335=)
c.877-1610C= (n.877-1610C=)
c.3053C= (p.Ala1018=)
c.3061-1610C= (n.3061-1610C=)
c.2774C= (p.Ala925=)
c.2731-1610C= (n.2731-1610C=)
c.1856C= (p.Ala619=)
n.3407C=
13g.51944164G>TCA388029982ATP7Bc.*894-1610C>A (n.*894-1610C>A)
c.*1932C>A (n.*1932C>A)
c.2567C>A (p.Ala856Glu)
c.3188C>A (p.Ala1063Glu)
c.2855C>A (p.Ala952Glu)
c.2936C>A (p.Ala979Glu)
c.2954C>A (p.Ala985Glu)
n.3327C>A
n.3551C>A
c.2123C>A (p.Ala708Glu)
c.1898C>A (p.Ala633Glu)
c.2993C>A (p.Ala998Glu)
n.408C>A
c.1022-1610C>A
c.*289C>A (n.*289C>A)
n.3932C>A
n.2533C>A
c.3044C>A (p.Ala1015Glu)
c.3092C>A (p.Ala1031Glu)
c.3152C>A (p.Ala1051Glu)
c.2702C>A (p.Ala901Glu)
c.1004C>A (p.Ala335Glu)
c.877-1610C>A (n.877-1610C>A)
c.3053C>A (p.Ala1018Glu)
c.3061-1610C>A (n.3061-1610C>A)
c.2774C>A (p.Ala925Glu)
c.2731-1610C>A (n.2731-1610C>A)
c.1856C>A (p.Ala619Glu)
n.3407C>A
13g.51944165C>ACA388029984ATP7Bc.*894-1611G>T (n.*894-1611G>T)
c.*1931G>T (n.*1931G>T)
c.2566G>T (p.Ala856Ser)
c.3187G>T (p.Ala1063Ser)
c.2854G>T (p.Ala952Ser)
c.2935G>T (p.Ala979Ser)
c.2953G>T (p.Ala985Ser)
n.3326G>T
n.3550G>T
c.2122G>T (p.Ala708Ser)
c.1897G>T (p.Ala633Ser)
c.2992G>T (p.Ala998Ser)
n.407G>T
c.1022-1611G>T
c.*288G>T (n.*288G>T)
n.3931G>T
n.2532G>T
c.3043G>T (p.Ala1015Ser)
c.3091G>T (p.Ala1031Ser)
c.3151G>T (p.Ala1051Ser)
c.2701G>T (p.Ala901Ser)
c.1003G>T (p.Ala335Ser)
c.877-1611G>T (n.877-1611G>T)
c.3052G>T (p.Ala1018Ser)
c.3061-1611G>T (n.3061-1611G>T)
c.2773G>T (p.Ala925Ser)
c.2731-1611G>T (n.2731-1611G>T)
c.1855G>T (p.Ala619Ser)
n.3406G>T
13g.51944165C>GCA388029987ATP7Bc.*894-1611G>C (n.*894-1611G>C)
c.*1931G>C (n.*1931G>C)
c.2566G>C (p.Ala856Pro)
c.3187G>C (p.Ala1063Pro)
c.2854G>C (p.Ala952Pro)
c.2935G>C (p.Ala979Pro)
c.2953G>C (p.Ala985Pro)
n.3326G>C
n.3550G>C
c.2122G>C (p.Ala708Pro)
c.1897G>C (p.Ala633Pro)
c.2992G>C (p.Ala998Pro)
n.407G>C
c.1022-1611G>C
c.*288G>C (n.*288G>C)
n.3931G>C
n.2532G>C
c.3043G>C (p.Ala1015Pro)
c.3091G>C (p.Ala1031Pro)
c.3151G>C (p.Ala1051Pro)
c.2701G>C (p.Ala901Pro)
c.1003G>C (p.Ala335Pro)
c.877-1611G>C (n.877-1611G>C)
c.3052G>C (p.Ala1018Pro)
c.3061-1611G>C (n.3061-1611G>C)
c.2773G>C (p.Ala925Pro)
c.2731-1611G>C (n.2731-1611G>C)
c.1855G>C (p.Ala619Pro)
n.3406G>C
13g.51944165C>TCA388029989ATP7Bc.*894-1611G>A (n.*894-1611G>A)
c.*1931G>A (n.*1931G>A)
c.2566G>A (p.Ala856Thr)
c.3187G>A (p.Ala1063Thr)
c.2854G>A (p.Ala952Thr)
c.2935G>A (p.Ala979Thr)
c.2953G>A (p.Ala985Thr)
n.3326G>A
n.3550G>A
c.2122G>A (p.Ala708Thr)
c.1897G>A (p.Ala633Thr)
c.2992G>A (p.Ala998Thr)
n.407G>A
c.1022-1611G>A
c.*288G>A (n.*288G>A)
n.3931G>A
n.2532G>A
c.3043G>A (p.Ala1015Thr)
c.3091G>A (p.Ala1031Thr)
c.3151G>A (p.Ala1051Thr)
c.2701G>A (p.Ala901Thr)
c.1003G>A (p.Ala335Thr)
c.877-1611G>A (n.877-1611G>A)
c.3052G>A (p.Ala1018Thr)
c.3061-1611G>A (n.3061-1611G>A)
c.2773G>A (p.Ala925Thr)
c.2731-1611G>A (n.2731-1611G>A)
c.1855G>A (p.Ala619Thr)
n.3406G>A
 ClinVar dbSNP
13g.51944166A>CCA483894670ATP7Bc.*894-1612T>G (n.*894-1612T>G)
c.*1930T>G (n.*1930T>G)
c.2565T>G (p.Thr855=)
c.3186T>G (p.Thr1062=)
c.2853T>G (p.Thr951=)
c.2934T>G (p.Thr978=)
c.2952T>G (p.Thr984=)
n.3325T>G
n.3549T>G
c.2121T>G (p.Thr707=)
c.1896T>G (p.Thr632=)
c.2991T>G (p.Thr997=)
n.406T>G
c.1022-1612T>G
c.*287T>G (n.*287T>G)
n.3930T>G
n.2531T>G
c.3042T>G (p.Thr1014=)
c.3090T>G (p.Thr1030=)
c.3150T>G (p.Thr1050=)
c.2700T>G (p.Thr900=)
c.1002T>G (p.Thr334=)
c.877-1612T>G (n.877-1612T>G)
c.3051T>G (p.Thr1017=)
c.3061-1612T>G (n.3061-1612T>G)
c.2772T>G (p.Thr924=)
c.2731-1612T>G (n.2731-1612T>G)
c.1854T>G (p.Thr618=)
n.3405T>G
13g.51944166A>GCA483894668ATP7Bc.*894-1612T>C (n.*894-1612T>C)
c.*1930T>C (n.*1930T>C)
c.2565T>C (p.Thr855=)
c.3186T>C (p.Thr1062=)
c.2853T>C (p.Thr951=)
c.2934T>C (p.Thr978=)
c.2952T>C (p.Thr984=)
n.3325T>C
n.3549T>C
c.2121T>C (p.Thr707=)
c.1896T>C (p.Thr632=)
c.2991T>C (p.Thr997=)
n.406T>C
c.1022-1612T>C
c.*287T>C (n.*287T>C)
n.3930T>C
n.2531T>C
c.3042T>C (p.Thr1014=)
c.3090T>C (p.Thr1030=)
c.3150T>C (p.Thr1050=)
c.2700T>C (p.Thr900=)
c.1002T>C (p.Thr334=)
c.877-1612T>C (n.877-1612T>C)
c.3051T>C (p.Thr1017=)
c.3061-1612T>C (n.3061-1612T>C)
c.2772T>C (p.Thr924=)
c.2731-1612T>C (n.2731-1612T>C)
c.1854T>C (p.Thr618=)
n.3405T>C
 ClinVar gnomAD v4
13g.51944166A>TCA483894669ATP7Bc.*894-1612T>A (n.*894-1612T>A)
c.*1930T>A (n.*1930T>A)
c.2565T>A (p.Thr855=)
c.3186T>A (p.Thr1062=)
c.2853T>A (p.Thr951=)
c.2934T>A (p.Thr978=)
c.2952T>A (p.Thr984=)
n.3325T>A
n.3549T>A
c.2121T>A (p.Thr707=)
c.1896T>A (p.Thr632=)
c.2991T>A (p.Thr997=)
n.406T>A
c.1022-1612T>A
c.*287T>A (n.*287T>A)
n.3930T>A
n.2531T>A
c.3042T>A (p.Thr1014=)
c.3090T>A (p.Thr1030=)
c.3150T>A (p.Thr1050=)
c.2700T>A (p.Thr900=)
c.1002T>A (p.Thr334=)
c.877-1612T>A (n.877-1612T>A)
c.3051T>A (p.Thr1017=)
c.3061-1612T>A (n.3061-1612T>A)
c.2772T>A (p.Thr924=)
c.2731-1612T>A (n.2731-1612T>A)
c.1854T>A (p.Thr618=)
n.3405T>A
 COSMIC
13g.51944167G>ACA6988784ATP7Bc.*894-1613C>T (n.*894-1613C>T)
c.*1929C>T (n.*1929C>T)
c.2564C>T (p.Thr855Ile)
c.3185C>T (p.Thr1062Ile)
c.2852C>T (p.Thr951Ile)
c.2933C>T (p.Thr978Ile)
c.2951C>T (p.Thr984Ile)
n.3324C>T
n.3548C>T
c.2120C>T (p.Thr707Ile)
c.1895C>T (p.Thr632Ile)
c.2990C>T (p.Thr997Ile)
n.405C>T
c.1022-1613C>T
c.*286C>T (n.*286C>T)
n.3929C>T
n.2530C>T
c.3041C>T (p.Thr1014Ile)
c.3089C>T (p.Thr1030Ile)
c.3149C>T (p.Thr1050Ile)
c.2699C>T (p.Thr900Ile)
c.1001C>T (p.Thr334Ile)
c.877-1613C>T (n.877-1613C>T)
c.3050C>T (p.Thr1017Ile)
c.3061-1613C>T (n.3061-1613C>T)
c.2771C>T (p.Thr924Ile)
c.2731-1613C>T (n.2731-1613C>T)
c.1853C>T (p.Thr618Ile)
n.3404C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944167G>CCA388029993ATP7Bc.*894-1613C>G (n.*894-1613C>G)
c.*1929C>G (n.*1929C>G)
c.2564C>G (p.Thr855Ser)
c.3185C>G (p.Thr1062Ser)
c.2852C>G (p.Thr951Ser)
c.2933C>G (p.Thr978Ser)
c.2951C>G (p.Thr984Ser)
n.3324C>G
n.3548C>G
c.2120C>G (p.Thr707Ser)
c.1895C>G (p.Thr632Ser)
c.2990C>G (p.Thr997Ser)
n.405C>G
c.1022-1613C>G
c.*286C>G (n.*286C>G)
n.3929C>G
n.2530C>G
c.3041C>G (p.Thr1014Ser)
c.3089C>G (p.Thr1030Ser)
c.3149C>G (p.Thr1050Ser)
c.2699C>G (p.Thr900Ser)
c.1001C>G (p.Thr334Ser)
c.877-1613C>G (n.877-1613C>G)
c.3050C>G (p.Thr1017Ser)
c.3061-1613C>G (n.3061-1613C>G)
c.2771C>G (p.Thr924Ser)
c.2731-1613C>G (n.2731-1613C>G)
c.1853C>G (p.Thr618Ser)
n.3404C>G
13g.51944167G=CA2091563856ATP7Bc.*894-1613C= (n.*894-1613C=)
c.*1929C= (n.*1929C=)
c.2564C= (p.Thr855=)
c.3185C= (p.Thr1062=)
c.2852C= (p.Thr951=)
c.2933C= (p.Thr978=)
c.2951C= (p.Thr984=)
n.3324C=
n.3548C=
c.2120C= (p.Thr707=)
c.1895C= (p.Thr632=)
c.2990C= (p.Thr997=)
n.405C=
c.1022-1613C=
c.*286C= (n.*286C=)
n.3929C=
n.2530C=
c.3041C= (p.Thr1014=)
c.3089C= (p.Thr1030=)
c.3149C= (p.Thr1050=)
c.2699C= (p.Thr900=)
c.1001C= (p.Thr334=)
c.877-1613C= (n.877-1613C=)
c.3050C= (p.Thr1017=)
c.3061-1613C= (n.3061-1613C=)
c.2771C= (p.Thr924=)
c.2731-1613C= (n.2731-1613C=)
c.1853C= (p.Thr618=)
n.3404C=
13g.51944167G>TCA388029994ATP7Bc.*894-1613C>A (n.*894-1613C>A)
c.*1929C>A (n.*1929C>A)
c.2564C>A (p.Thr855Asn)
c.3185C>A (p.Thr1062Asn)
c.2852C>A (p.Thr951Asn)
c.2933C>A (p.Thr978Asn)
c.2951C>A (p.Thr984Asn)
n.3324C>A
n.3548C>A
c.2120C>A (p.Thr707Asn)
c.1895C>A (p.Thr632Asn)
c.2990C>A (p.Thr997Asn)
n.405C>A
c.1022-1613C>A
c.*286C>A (n.*286C>A)
n.3929C>A
n.2530C>A
c.3041C>A (p.Thr1014Asn)
c.3089C>A (p.Thr1030Asn)
c.3149C>A (p.Thr1050Asn)
c.2699C>A (p.Thr900Asn)
c.1001C>A (p.Thr334Asn)
c.877-1613C>A (n.877-1613C>A)
c.3050C>A (p.Thr1017Asn)
c.3061-1613C>A (n.3061-1613C>A)
c.2771C>A (p.Thr924Asn)
c.2731-1613C>A (n.2731-1613C>A)
c.1853C>A (p.Thr618Asn)
n.3404C>A
13g.51944168T>ACA388029996ATP7Bc.*894-1614A>T (n.*894-1614A>T)
c.*1928A>T (n.*1928A>T)
c.2563A>T (p.Thr855Ser)
c.3184A>T (p.Thr1062Ser)
c.2851A>T (p.Thr951Ser)
c.2932A>T (p.Thr978Ser)
c.2950A>T (p.Thr984Ser)
n.3323A>T
n.3547A>T
c.2119A>T (p.Thr707Ser)
c.1894A>T (p.Thr632Ser)
c.2989A>T (p.Thr997Ser)
n.404A>T
c.1022-1614A>T
c.*285A>T (n.*285A>T)
n.3928A>T
n.2529A>T
c.3040A>T (p.Thr1014Ser)
c.3088A>T (p.Thr1030Ser)
c.3148A>T (p.Thr1050Ser)
c.2698A>T (p.Thr900Ser)
c.1000A>T (p.Thr334Ser)
c.877-1614A>T (n.877-1614A>T)
c.3049A>T (p.Thr1017Ser)
c.3061-1614A>T (n.3061-1614A>T)
c.2770A>T (p.Thr924Ser)
c.2731-1614A>T (n.2731-1614A>T)
c.1852A>T (p.Thr618Ser)
n.3403A>T
13g.51944168T>CCA388030002ATP7Bc.*894-1614A>G (n.*894-1614A>G)
c.*1928A>G (n.*1928A>G)
c.2563A>G (p.Thr855Ala)
c.3184A>G (p.Thr1062Ala)
c.2851A>G (p.Thr951Ala)
c.2932A>G (p.Thr978Ala)
c.2950A>G (p.Thr984Ala)
n.3323A>G
n.3547A>G
c.2119A>G (p.Thr707Ala)
c.1894A>G (p.Thr632Ala)
c.2989A>G (p.Thr997Ala)
n.404A>G
c.1022-1614A>G
c.*285A>G (n.*285A>G)
n.3928A>G
n.2529A>G
c.3040A>G (p.Thr1014Ala)
c.3088A>G (p.Thr1030Ala)
c.3148A>G (p.Thr1050Ala)
c.2698A>G (p.Thr900Ala)
c.1000A>G (p.Thr334Ala)
c.877-1614A>G (n.877-1614A>G)
c.3049A>G (p.Thr1017Ala)
c.3061-1614A>G (n.3061-1614A>G)
c.2770A>G (p.Thr924Ala)
c.2731-1614A>G (n.2731-1614A>G)
c.1852A>G (p.Thr618Ala)
n.3403A>G
13g.51944168T>GCA388029999ATP7Bc.*894-1614A>C (n.*894-1614A>C)
c.*1928A>C (n.*1928A>C)
c.2563A>C (p.Thr855Pro)
c.3184A>C (p.Thr1062Pro)
c.2851A>C (p.Thr951Pro)
c.2932A>C (p.Thr978Pro)
c.2950A>C (p.Thr984Pro)
n.3323A>C
n.3547A>C
c.2119A>C (p.Thr707Pro)
c.1894A>C (p.Thr632Pro)
c.2989A>C (p.Thr997Pro)
n.404A>C
c.1022-1614A>C
c.*285A>C (n.*285A>C)
n.3928A>C
n.2529A>C
c.3040A>C (p.Thr1014Pro)
c.3088A>C (p.Thr1030Pro)
c.3148A>C (p.Thr1050Pro)
c.2698A>C (p.Thr900Pro)
c.1000A>C (p.Thr334Pro)
c.877-1614A>C (n.877-1614A>C)
c.3049A>C (p.Thr1017Pro)
c.3061-1614A>C (n.3061-1614A>C)
c.2770A>C (p.Thr924Pro)
c.2731-1614A>C (n.2731-1614A>C)
c.1852A>C (p.Thr618Pro)
n.3403A>C
13g.51944169C>ACA250080102ATP7Bc.*894-1615G>T (n.*894-1615G>T)
c.*1927G>T (n.*1927G>T)
c.2562G>T (p.Gly854=)
c.3183G>T (p.Gly1061=)
c.2850G>T (p.Gly950=)
c.2931G>T (p.Gly977=)
c.2949G>T (p.Gly983=)
n.3322G>T
n.3546G>T
c.2118G>T (p.Gly706=)
c.1893G>T (p.Gly631=)
c.2988G>T (p.Gly996=)
n.403G>T
c.1022-1615G>T
c.*284G>T (n.*284G>T)
n.3927G>T
n.2528G>T
c.3039G>T (p.Gly1013=)
c.3087G>T (p.Gly1029=)
c.3147G>T (p.Gly1049=)
c.2697G>T (p.Gly899=)
c.999G>T (p.Gly333=)
c.877-1615G>T (n.877-1615G>T)
c.3048G>T (p.Gly1016=)
c.3061-1615G>T (n.3061-1615G>T)
c.2769G>T (p.Gly923=)
c.2731-1615G>T (n.2731-1615G>T)
c.1851G>T (p.Gly617=)
n.3402G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51944169C=CA2091563863ATP7Bc.*894-1615G= (n.*894-1615G=)
c.*1927G= (n.*1927G=)
c.2562G= (p.Gly854=)
c.3183G= (p.Gly1061=)
c.2850G= (p.Gly950=)
c.2931G= (p.Gly977=)
c.2949G= (p.Gly983=)
n.3322G=
n.3546G=
c.2118G= (p.Gly706=)
c.1893G= (p.Gly631=)
c.2988G= (p.Gly996=)
n.403G=
c.1022-1615G=
c.*284G= (n.*284G=)
n.3927G=
n.2528G=
c.3039G= (p.Gly1013=)
c.3087G= (p.Gly1029=)
c.3147G= (p.Gly1049=)
c.2697G= (p.Gly899=)
c.999G= (p.Gly333=)
c.877-1615G= (n.877-1615G=)
c.3048G= (p.Gly1016=)
c.3061-1615G= (n.3061-1615G=)
c.2769G= (p.Gly923=)
c.2731-1615G= (n.2731-1615G=)
c.1851G= (p.Gly617=)
n.3402G=
13g.51944169C>GCA483894674ATP7Bc.*894-1615G>C (n.*894-1615G>C)
c.*1927G>C (n.*1927G>C)
c.2562G>C (p.Gly854=)
c.3183G>C (p.Gly1061=)
c.2850G>C (p.Gly950=)
c.2931G>C (p.Gly977=)
c.2949G>C (p.Gly983=)
n.3322G>C
n.3546G>C
c.2118G>C (p.Gly706=)
c.1893G>C (p.Gly631=)
c.2988G>C (p.Gly996=)
n.403G>C
c.1022-1615G>C
c.*284G>C (n.*284G>C)
n.3927G>C
n.2528G>C
c.3039G>C (p.Gly1013=)
c.3087G>C (p.Gly1029=)
c.3147G>C (p.Gly1049=)
c.2697G>C (p.Gly899=)
c.999G>C (p.Gly333=)
c.877-1615G>C (n.877-1615G>C)
c.3048G>C (p.Gly1016=)
c.3061-1615G>C (n.3061-1615G>C)
c.2769G>C (p.Gly923=)
c.2731-1615G>C (n.2731-1615G>C)
c.1851G>C (p.Gly617=)
n.3402G>C
13g.51944169C>TCA483894675ATP7Bc.*894-1615G>A (n.*894-1615G>A)
c.*1927G>A (n.*1927G>A)
c.2562G>A (p.Gly854=)
c.3183G>A (p.Gly1061=)
c.2850G>A (p.Gly950=)
c.2931G>A (p.Gly977=)
c.2949G>A (p.Gly983=)
n.3322G>A
n.3546G>A
c.2118G>A (p.Gly706=)
c.1893G>A (p.Gly631=)
c.2988G>A (p.Gly996=)
n.403G>A
c.1022-1615G>A
c.*284G>A (n.*284G>A)
n.3927G>A
n.2528G>A
c.3039G>A (p.Gly1013=)
c.3087G>A (p.Gly1029=)
c.3147G>A (p.Gly1049=)
c.2697G>A (p.Gly899=)
c.999G>A (p.Gly333=)
c.877-1615G>A (n.877-1615G>A)
c.3048G>A (p.Gly1016=)
c.3061-1615G>A (n.3061-1615G>A)
c.2769G>A (p.Gly923=)
c.2731-1615G>A (n.2731-1615G>A)
c.1851G>A (p.Gly617=)
n.3402G>A
13g.51944172delCA2573149708ATP7Bc.*894-1615del (n.*894-1615del)
c.*1927del (n.*1927del)
c.2562del (p.Thr855LeufsTer?)
c.3183del (p.Thr1062LeufsTer?)
c.2850del (p.Thr951LeufsTer?)
c.2931del (p.Thr978LeufsTer?)
c.2949del (p.Thr984LeufsTer?)
n.3322del
n.3546del
c.2118del (p.Thr707LeufsTer?)
c.1893del (p.Thr632LeufsTer?)
c.2988del (p.Thr997LeufsTer?)
n.403del
c.1022-1615del
c.*284del (n.*284del)
n.3927del
n.2528del
c.3039del (p.Thr1014LeufsTer?)
c.3087del (p.Thr1030LeufsTer?)
c.3147del (p.Thr1050LeufsTer?)
c.2697del (p.Thr900LeufsTer?)
c.999del (p.Thr334LeufsTer?)
c.877-1615del (n.877-1615del)
c.3048del (p.Thr1017LeufsTer?)
c.3061-1615del (n.3061-1615del)
c.2769del (p.Thr924LeufsTer?)
c.2731-1615del (n.2731-1615del)
c.1851del (p.Thr618LeufsTer?)
n.3402del
 ClinVar dbSNP
13g.51944170C>ACA388030004ATP7Bc.*894-1616G>T (n.*894-1616G>T)
c.*1926G>T (n.*1926G>T)
c.2561G>T (p.Gly854Val)
c.3182G>T (p.Gly1061Val)
c.2849G>T (p.Gly950Val)
c.2930G>T (p.Gly977Val)
c.2948G>T (p.Gly983Val)
n.3321G>T
n.3545G>T
c.2117G>T (p.Gly706Val)
c.1892G>T (p.Gly631Val)
c.2987G>T (p.Gly996Val)
n.402G>T
c.1022-1616G>T
c.*283G>T (n.*283G>T)
n.3926G>T
n.2527G>T
c.3038G>T (p.Gly1013Val)
c.3086G>T (p.Gly1029Val)
c.3146G>T (p.Gly1049Val)
c.2696G>T (p.Gly899Val)
c.998G>T (p.Gly333Val)
c.877-1616G>T (n.877-1616G>T)
c.3047G>T (p.Gly1016Val)
c.3061-1616G>T (n.3061-1616G>T)
c.2768G>T (p.Gly923Val)
c.2731-1616G>T (n.2731-1616G>T)
c.1850G>T (p.Gly617Val)
n.3401G>T
13g.51944170C=CA2091563869ATP7Bc.*894-1616G= (n.*894-1616G=)
c.*1926G= (n.*1926G=)
c.2561G= (p.Gly854=)
c.3182G= (p.Gly1061=)
c.2849G= (p.Gly950=)
c.2930G= (p.Gly977=)
c.2948G= (p.Gly983=)
n.3321G=
n.3545G=
c.2117G= (p.Gly706=)
c.1892G= (p.Gly631=)
c.2987G= (p.Gly996=)
n.402G=
c.1022-1616G=
c.*283G= (n.*283G=)
n.3926G=
n.2527G=
c.3038G= (p.Gly1013=)
c.3086G= (p.Gly1029=)
c.3146G= (p.Gly1049=)
c.2696G= (p.Gly899=)
c.998G= (p.Gly333=)
c.877-1616G= (n.877-1616G=)
c.3047G= (p.Gly1016=)
c.3061-1616G= (n.3061-1616G=)
c.2768G= (p.Gly923=)
c.2731-1616G= (n.2731-1616G=)
c.1850G= (p.Gly617=)
n.3401G=
13g.51944170C>GCA388030005ATP7Bc.*894-1616G>C (n.*894-1616G>C)
c.*1926G>C (n.*1926G>C)
c.2561G>C (p.Gly854Ala)
c.3182G>C (p.Gly1061Ala)
c.2849G>C (p.Gly950Ala)
c.2930G>C (p.Gly977Ala)
c.2948G>C (p.Gly983Ala)
n.3321G>C
n.3545G>C
c.2117G>C (p.Gly706Ala)
c.1892G>C (p.Gly631Ala)
c.2987G>C (p.Gly996Ala)
n.402G>C
c.1022-1616G>C
c.*283G>C (n.*283G>C)
n.3926G>C
n.2527G>C
c.3038G>C (p.Gly1013Ala)
c.3086G>C (p.Gly1029Ala)
c.3146G>C (p.Gly1049Ala)
c.2696G>C (p.Gly899Ala)
c.998G>C (p.Gly333Ala)
c.877-1616G>C (n.877-1616G>C)
c.3047G>C (p.Gly1016Ala)
c.3061-1616G>C (n.3061-1616G>C)
c.2768G>C (p.Gly923Ala)
c.2731-1616G>C (n.2731-1616G>C)
c.1850G>C (p.Gly617Ala)
n.3401G>C
13g.51944170C>TCA6988785ATP7Bc.*894-1616G>A (n.*894-1616G>A)
c.*1926G>A (n.*1926G>A)
c.2561G>A (p.Gly854Glu)
c.3182G>A (p.Gly1061Glu)
c.2849G>A (p.Gly950Glu)
c.2930G>A (p.Gly977Glu)
c.2948G>A (p.Gly983Glu)
n.3321G>A
n.3545G>A
c.2117G>A (p.Gly706Glu)
c.1892G>A (p.Gly631Glu)
c.2987G>A (p.Gly996Glu)
n.402G>A
c.1022-1616G>A
c.*283G>A (n.*283G>A)
n.3926G>A
n.2527G>A
c.3038G>A (p.Gly1013Glu)
c.3086G>A (p.Gly1029Glu)
c.3146G>A (p.Gly1049Glu)
c.2696G>A (p.Gly899Glu)
c.998G>A (p.Gly333Glu)
c.877-1616G>A (n.877-1616G>A)
c.3047G>A (p.Gly1016Glu)
c.3061-1616G>A (n.3061-1616G>A)
c.2768G>A (p.Gly923Glu)
c.2731-1616G>A (n.2731-1616G>A)
c.1850G>A (p.Gly617Glu)
n.3401G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944171C>ACA388030009ATP7Bc.*894-1617G>T (n.*894-1617G>T)
c.*1925G>T (n.*1925G>T)
c.2560G>T (p.Gly854Trp)
c.3181G>T (p.Gly1061Trp)
c.2848G>T (p.Gly950Trp)
c.2929G>T (p.Gly977Trp)
c.2947G>T (p.Gly983Trp)
n.3320G>T
n.3544G>T
c.2116G>T (p.Gly706Trp)
c.1891G>T (p.Gly631Trp)
c.2986G>T (p.Gly996Trp)
n.401G>T
c.1022-1617G>T
c.*282G>T (n.*282G>T)
n.3925G>T
n.2526G>T
c.3037G>T (p.Gly1013Trp)
c.3085G>T (p.Gly1029Trp)
c.3145G>T (p.Gly1049Trp)
c.2695G>T (p.Gly899Trp)
c.997G>T (p.Gly333Trp)
c.877-1617G>T (n.877-1617G>T)
c.3046G>T (p.Gly1016Trp)
c.3061-1617G>T (n.3061-1617G>T)
c.2767G>T (p.Gly923Trp)
c.2731-1617G>T (n.2731-1617G>T)
c.1849G>T (p.Gly617Trp)
n.3400G>T
13g.51944171C=CA2091563873ATP7Bc.*894-1617G= (n.*894-1617G=)
c.*1925G= (n.*1925G=)
c.2560G= (p.Gly854=)
c.3181G= (p.Gly1061=)
c.2848G= (p.Gly950=)
c.2929G= (p.Gly977=)
c.2947G= (p.Gly983=)
n.3320G=
n.3544G=
c.2116G= (p.Gly706=)
c.1891G= (p.Gly631=)
c.2986G= (p.Gly996=)
n.401G=
c.1022-1617G=
c.*282G= (n.*282G=)
n.3925G=
n.2526G=
c.3037G= (p.Gly1013=)
c.3085G= (p.Gly1029=)
c.3145G= (p.Gly1049=)
c.2695G= (p.Gly899=)
c.997G= (p.Gly333=)
c.877-1617G= (n.877-1617G=)
c.3046G= (p.Gly1016=)
c.3061-1617G= (n.3061-1617G=)
c.2767G= (p.Gly923=)
c.2731-1617G= (n.2731-1617G=)
c.1849G= (p.Gly617=)
n.3400G=
13g.51944171C>GCA388030012ATP7Bc.*894-1617G>C (n.*894-1617G>C)
c.*1925G>C (n.*1925G>C)
c.2560G>C (p.Gly854Arg)
c.3181G>C (p.Gly1061Arg)
c.2848G>C (p.Gly950Arg)
c.2929G>C (p.Gly977Arg)
c.2947G>C (p.Gly983Arg)
n.3320G>C
n.3544G>C
c.2116G>C (p.Gly706Arg)
c.1891G>C (p.Gly631Arg)
c.2986G>C (p.Gly996Arg)
n.401G>C
c.1022-1617G>C
c.*282G>C (n.*282G>C)
n.3925G>C
n.2526G>C
c.3037G>C (p.Gly1013Arg)
c.3085G>C (p.Gly1029Arg)
c.3145G>C (p.Gly1049Arg)
c.2695G>C (p.Gly899Arg)
c.997G>C (p.Gly333Arg)
c.877-1617G>C (n.877-1617G>C)
c.3046G>C (p.Gly1016Arg)
c.3061-1617G>C (n.3061-1617G>C)
c.2767G>C (p.Gly923Arg)
c.2731-1617G>C (n.2731-1617G>C)
c.1849G>C (p.Gly617Arg)
n.3400G>C
13g.51944171C>TCA388030013ATP7Bc.*894-1617G>A (n.*894-1617G>A)
c.*1925G>A (n.*1925G>A)
c.2560G>A (p.Gly854Arg)
c.3181G>A (p.Gly1061Arg)
c.2848G>A (p.Gly950Arg)
c.2929G>A (p.Gly977Arg)
c.2947G>A (p.Gly983Arg)
n.3320G>A
n.3544G>A
c.2116G>A (p.Gly706Arg)
c.1891G>A (p.Gly631Arg)
c.2986G>A (p.Gly996Arg)
n.401G>A
c.1022-1617G>A
c.*282G>A (n.*282G>A)
n.3925G>A
n.2526G>A
c.3037G>A (p.Gly1013Arg)
c.3085G>A (p.Gly1029Arg)
c.3145G>A (p.Gly1049Arg)
c.2695G>A (p.Gly899Arg)
c.997G>A (p.Gly333Arg)
c.877-1617G>A (n.877-1617G>A)
c.3046G>A (p.Gly1016Arg)
c.3061-1617G>A (n.3061-1617G>A)
c.2767G>A (p.Gly923Arg)
c.2731-1617G>A (n.2731-1617G>A)
c.1849G>A (p.Gly617Arg)
n.3400G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51944172C>ACA483894679ATP7Bc.*894-1618G>T (n.*894-1618G>T)
c.*1924G>T (n.*1924G>T)
c.2559G>T (p.Val853=)
c.3180G>T (p.Val1060=)
c.2847G>T (p.Val949=)
c.2928G>T (p.Val976=)
c.2946G>T (p.Val982=)
n.3319G>T
n.3543G>T
c.2115G>T (p.Val705=)
c.1890G>T (p.Val630=)
c.2985G>T (p.Val995=)
n.400G>T
c.1022-1618G>T
c.*281G>T (n.*281G>T)
n.3924G>T
n.2525G>T
c.3036G>T (p.Val1012=)
c.3084G>T (p.Val1028=)
c.3144G>T (p.Val1048=)
c.2694G>T (p.Val898=)
c.996G>T (p.Val332=)
c.877-1618G>T (n.877-1618G>T)
c.3045G>T (p.Val1015=)
c.3061-1618G>T (n.3061-1618G>T)
c.2766G>T (p.Val922=)
c.2731-1618G>T (n.2731-1618G>T)
c.1848G>T (p.Val616=)
n.3399G>T
13g.51944172C=CA2091563878ATP7Bc.*894-1618G= (n.*894-1618G=)
c.*1924G= (n.*1924G=)
c.2559G= (p.Val853=)
c.3180G= (p.Val1060=)
c.2847G= (p.Val949=)
c.2928G= (p.Val976=)
c.2946G= (p.Val982=)
n.3319G=
n.3543G=
c.2115G= (p.Val705=)
c.1890G= (p.Val630=)
c.2985G= (p.Val995=)
n.400G=
c.1022-1618G=
c.*281G= (n.*281G=)
n.3924G=
n.2525G=
c.3036G= (p.Val1012=)
c.3084G= (p.Val1028=)
c.3144G= (p.Val1048=)
c.2694G= (p.Val898=)
c.996G= (p.Val332=)
c.877-1618G= (n.877-1618G=)
c.3045G= (p.Val1015=)
c.3061-1618G= (n.3061-1618G=)
c.2766G= (p.Val922=)
c.2731-1618G= (n.2731-1618G=)
c.1848G= (p.Val616=)
n.3399G=
13g.51944172C>GCA483894680ATP7Bc.*894-1618G>C (n.*894-1618G>C)
c.*1924G>C (n.*1924G>C)
c.2559G>C (p.Val853=)
c.3180G>C (p.Val1060=)
c.2847G>C (p.Val949=)
c.2928G>C (p.Val976=)
c.2946G>C (p.Val982=)
n.3319G>C
n.3543G>C
c.2115G>C (p.Val705=)
c.1890G>C (p.Val630=)
c.2985G>C (p.Val995=)
n.400G>C
c.1022-1618G>C
c.*281G>C (n.*281G>C)
n.3924G>C
n.2525G>C
c.3036G>C (p.Val1012=)
c.3084G>C (p.Val1028=)
c.3144G>C (p.Val1048=)
c.2694G>C (p.Val898=)
c.996G>C (p.Val332=)
c.877-1618G>C (n.877-1618G>C)
c.3045G>C (p.Val1015=)
c.3061-1618G>C (n.3061-1618G>C)
c.2766G>C (p.Val922=)
c.2731-1618G>C (n.2731-1618G>C)
c.1848G>C (p.Val616=)
n.3399G>C
13g.51944172C>TCA6988786ATP7Bc.*894-1618G>A (n.*894-1618G>A)
c.*1924G>A (n.*1924G>A)
c.2559G>A (p.Val853=)
c.3180G>A (p.Val1060=)
c.2847G>A (p.Val949=)
c.2928G>A (p.Val976=)
c.2946G>A (p.Val982=)
n.3319G>A
n.3543G>A
c.2115G>A (p.Val705=)
c.1890G>A (p.Val630=)
c.2985G>A (p.Val995=)
n.400G>A
c.1022-1618G>A
c.*281G>A (n.*281G>A)
n.3924G>A
n.2525G>A
c.3036G>A (p.Val1012=)
c.3084G>A (p.Val1028=)
c.3144G>A (p.Val1048=)
c.2694G>A (p.Val898=)
c.996G>A (p.Val332=)
c.877-1618G>A (n.877-1618G>A)
c.3045G>A (p.Val1015=)
c.3061-1618G>A (n.3061-1618G>A)
c.2766G>A (p.Val922=)
c.2731-1618G>A (n.2731-1618G>A)
c.1848G>A (p.Val616=)
n.3399G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944173A=CA2091563883ATP7Bc.*894-1619T= (n.*894-1619T=)
c.*1923T= (n.*1923T=)
c.2558T= (p.Val853=)
c.3179T= (p.Val1060=)
c.2846T= (p.Val949=)
c.2927T= (p.Val976=)
c.2945T= (p.Val982=)
n.3318T=
n.3542T=
c.2114T= (p.Val705=)
c.1889T= (p.Val630=)
c.2984T= (p.Val995=)
n.399T=
c.1022-1619T=
c.*280T= (n.*280T=)
n.3923T=
n.2524T=
c.3035T= (p.Val1012=)
c.3083T= (p.Val1028=)
c.3143T= (p.Val1048=)
c.2693T= (p.Val898=)
c.995T= (p.Val332=)
c.877-1619T= (n.877-1619T=)
c.3044T= (p.Val1015=)
c.3061-1619T= (n.3061-1619T=)
c.2765T= (p.Val922=)
c.2731-1619T= (n.2731-1619T=)
c.1847T= (p.Val616=)
n.3398T=
13g.51944173A>CCA388030017ATP7Bc.*894-1619T>G (n.*894-1619T>G)
c.*1923T>G (n.*1923T>G)
c.2558T>G (p.Val853Gly)
c.3179T>G (p.Val1060Gly)
c.2846T>G (p.Val949Gly)
c.2927T>G (p.Val976Gly)
c.2945T>G (p.Val982Gly)
n.3318T>G
n.3542T>G
c.2114T>G (p.Val705Gly)
c.1889T>G (p.Val630Gly)
c.2984T>G (p.Val995Gly)
n.399T>G
c.1022-1619T>G
c.*280T>G (n.*280T>G)
n.3923T>G
n.2524T>G
c.3035T>G (p.Val1012Gly)
c.3083T>G (p.Val1028Gly)
c.3143T>G (p.Val1048Gly)
c.2693T>G (p.Val898Gly)
c.995T>G (p.Val332Gly)
c.877-1619T>G (n.877-1619T>G)
c.3044T>G (p.Val1015Gly)
c.3061-1619T>G (n.3061-1619T>G)
c.2765T>G (p.Val922Gly)
c.2731-1619T>G (n.2731-1619T>G)
c.1847T>G (p.Val616Gly)
n.3398T>G
 dbSNP
13g.51944173A>GCA6988787ATP7Bc.*894-1619T>C (n.*894-1619T>C)
c.*1923T>C (n.*1923T>C)
c.2558T>C (p.Val853Ala)
c.3179T>C (p.Val1060Ala)
c.2846T>C (p.Val949Ala)
c.2927T>C (p.Val976Ala)
c.2945T>C (p.Val982Ala)
n.3318T>C
n.3542T>C
c.2114T>C (p.Val705Ala)
c.1889T>C (p.Val630Ala)
c.2984T>C (p.Val995Ala)
n.399T>C
c.1022-1619T>C
c.*280T>C (n.*280T>C)
n.3923T>C
n.2524T>C
c.3035T>C (p.Val1012Ala)
c.3083T>C (p.Val1028Ala)
c.3143T>C (p.Val1048Ala)
c.2693T>C (p.Val898Ala)
c.995T>C (p.Val332Ala)
c.877-1619T>C (n.877-1619T>C)
c.3044T>C (p.Val1015Ala)
c.3061-1619T>C (n.3061-1619T>C)
c.2765T>C (p.Val922Ala)
c.2731-1619T>C (n.2731-1619T>C)
c.1847T>C (p.Val616Ala)
n.3398T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944173A>TCA388030019ATP7Bc.*894-1619T>A (n.*894-1619T>A)
c.*1923T>A (n.*1923T>A)
c.2558T>A (p.Val853Glu)
c.3179T>A (p.Val1060Glu)
c.2846T>A (p.Val949Glu)
c.2927T>A (p.Val976Glu)
c.2945T>A (p.Val982Glu)
n.3318T>A
n.3542T>A
c.2114T>A (p.Val705Glu)
c.1889T>A (p.Val630Glu)
c.2984T>A (p.Val995Glu)
n.399T>A
c.1022-1619T>A
c.*280T>A (n.*280T>A)
n.3923T>A
n.2524T>A
c.3035T>A (p.Val1012Glu)
c.3083T>A (p.Val1028Glu)
c.3143T>A (p.Val1048Glu)
c.2693T>A (p.Val898Glu)
c.995T>A (p.Val332Glu)
c.877-1619T>A (n.877-1619T>A)
c.3044T>A (p.Val1015Glu)
c.3061-1619T>A (n.3061-1619T>A)
c.2765T>A (p.Val922Glu)
c.2731-1619T>A (n.2731-1619T>A)
c.1847T>A (p.Val616Glu)
n.3398T>A
13g.51944174C>ACA388030025ATP7Bc.*894-1620G>T (n.*894-1620G>T)
c.*1922G>T (n.*1922G>T)
c.2557G>T (p.Val853Leu)
c.3178G>T (p.Val1060Leu)
c.2845G>T (p.Val949Leu)
c.2926G>T (p.Val976Leu)
c.2944G>T (p.Val982Leu)
n.3317G>T
n.3541G>T
c.2113G>T (p.Val705Leu)
c.1888G>T (p.Val630Leu)
c.2983G>T (p.Val995Leu)
n.398G>T
c.1022-1620G>T
c.*279G>T (n.*279G>T)
n.3922G>T
n.2523G>T
c.3034G>T (p.Val1012Leu)
c.3082G>T (p.Val1028Leu)
c.3142G>T (p.Val1048Leu)
c.2692G>T (p.Val898Leu)
c.994G>T (p.Val332Leu)
c.877-1620G>T (n.877-1620G>T)
c.3043G>T (p.Val1015Leu)
c.3061-1620G>T (n.3061-1620G>T)
c.2764G>T (p.Val922Leu)
c.2731-1620G>T (n.2731-1620G>T)
c.1846G>T (p.Val616Leu)
n.3397G>T
13g.51944174C=CA2091563886ATP7Bc.*894-1620G= (n.*894-1620G=)
c.*1922G= (n.*1922G=)
c.2557G= (p.Val853=)
c.3178G= (p.Val1060=)
c.2845G= (p.Val949=)
c.2926G= (p.Val976=)
c.2944G= (p.Val982=)
n.3317G=
n.3541G=
c.2113G= (p.Val705=)
c.1888G= (p.Val630=)
c.2983G= (p.Val995=)
n.398G=
c.1022-1620G=
c.*279G= (n.*279G=)
n.3922G=
n.2523G=
c.3034G= (p.Val1012=)
c.3082G= (p.Val1028=)
c.3142G= (p.Val1048=)
c.2692G= (p.Val898=)
c.994G= (p.Val332=)
c.877-1620G= (n.877-1620G=)
c.3043G= (p.Val1015=)
c.3061-1620G= (n.3061-1620G=)
c.2764G= (p.Val922=)
c.2731-1620G= (n.2731-1620G=)
c.1846G= (p.Val616=)
n.3397G=
13g.51944174C>GCA388030022ATP7Bc.*894-1620G>C (n.*894-1620G>C)
c.*1922G>C (n.*1922G>C)
c.2557G>C (p.Val853Leu)
c.3178G>C (p.Val1060Leu)
c.2845G>C (p.Val949Leu)
c.2926G>C (p.Val976Leu)
c.2944G>C (p.Val982Leu)
n.3317G>C
n.3541G>C
c.2113G>C (p.Val705Leu)
c.1888G>C (p.Val630Leu)
c.2983G>C (p.Val995Leu)
n.398G>C
c.1022-1620G>C
c.*279G>C (n.*279G>C)
n.3922G>C
n.2523G>C
c.3034G>C (p.Val1012Leu)
c.3082G>C (p.Val1028Leu)
c.3142G>C (p.Val1048Leu)
c.2692G>C (p.Val898Leu)
c.994G>C (p.Val332Leu)
c.877-1620G>C (n.877-1620G>C)
c.3043G>C (p.Val1015Leu)
c.3061-1620G>C (n.3061-1620G>C)
c.2764G>C (p.Val922Leu)
c.2731-1620G>C (n.2731-1620G>C)
c.1846G>C (p.Val616Leu)
n.3397G>C
13g.51944174C>TCA388030020ATP7Bc.*894-1620G>A (n.*894-1620G>A)
c.*1922G>A (n.*1922G>A)
c.2557G>A (p.Val853Met)
c.3178G>A (p.Val1060Met)
c.2845G>A (p.Val949Met)
c.2926G>A (p.Val976Met)
c.2944G>A (p.Val982Met)
n.3317G>A
n.3541G>A
c.2113G>A (p.Val705Met)
c.1888G>A (p.Val630Met)
c.2983G>A (p.Val995Met)
n.398G>A
c.1022-1620G>A
c.*279G>A (n.*279G>A)
n.3922G>A
n.2523G>A
c.3034G>A (p.Val1012Met)
c.3082G>A (p.Val1028Met)
c.3142G>A (p.Val1048Met)
c.2692G>A (p.Val898Met)
c.994G>A (p.Val332Met)
c.877-1620G>A (n.877-1620G>A)
c.3043G>A (p.Val1015Met)
c.3061-1620G>A (n.3061-1620G>A)
c.2764G>A (p.Val922Met)
c.2731-1620G>A (n.2731-1620G>A)
c.1846G>A (p.Val616Met)
n.3397G>A
 dbSNP gnomAD v4
13g.51944175C>ACA483894684ATP7Bc.*894-1621G>T (n.*894-1621G>T)
c.*1921G>T (n.*1921G>T)
c.2556G>T (p.Val852=)
c.3177G>T (p.Val1059=)
c.2844G>T (p.Val948=)
c.2925G>T (p.Val975=)
c.2943G>T (p.Val981=)
n.3316G>T
n.3540G>T
c.2112G>T (p.Val704=)
c.1887G>T (p.Val629=)
c.2982G>T (p.Val994=)
n.397G>T
c.1022-1621G>T
c.*278G>T (n.*278G>T)
n.3921G>T
n.2522G>T
c.3033G>T (p.Val1011=)
c.3081G>T (p.Val1027=)
c.3141G>T (p.Val1047=)
c.2691G>T (p.Val897=)
c.993G>T (p.Val331=)
c.877-1621G>T (n.877-1621G>T)
c.3042G>T (p.Val1014=)
c.3061-1621G>T (n.3061-1621G>T)
c.2763G>T (p.Val921=)
c.2731-1621G>T (n.2731-1621G>T)
c.1845G>T (p.Val615=)
n.3396G>T
 dbSNP gnomAD v3 gnomAD v4
13g.51944175C=CA2091563890ATP7Bc.*894-1621G= (n.*894-1621G=)
c.*1921G= (n.*1921G=)
c.2556G= (p.Val852=)
c.3177G= (p.Val1059=)
c.2844G= (p.Val948=)
c.2925G= (p.Val975=)
c.2943G= (p.Val981=)
n.3316G=
n.3540G=
c.2112G= (p.Val704=)
c.1887G= (p.Val629=)
c.2982G= (p.Val994=)
n.397G=
c.1022-1621G=
c.*278G= (n.*278G=)
n.3921G=
n.2522G=
c.3033G= (p.Val1011=)
c.3081G= (p.Val1027=)
c.3141G= (p.Val1047=)
c.2691G= (p.Val897=)
c.993G= (p.Val331=)
c.877-1621G= (n.877-1621G=)
c.3042G= (p.Val1014=)
c.3061-1621G= (n.3061-1621G=)
c.2763G= (p.Val921=)
c.2731-1621G= (n.2731-1621G=)
c.1845G= (p.Val615=)
n.3396G=
13g.51944175C>GCA6988788ATP7Bc.*894-1621G>C (n.*894-1621G>C)
c.*1921G>C (n.*1921G>C)
c.2556G>C (p.Val852=)
c.3177G>C (p.Val1059=)
c.2844G>C (p.Val948=)
c.2925G>C (p.Val975=)
c.2943G>C (p.Val981=)
n.3316G>C
n.3540G>C
c.2112G>C (p.Val704=)
c.1887G>C (p.Val629=)
c.2982G>C (p.Val994=)
n.397G>C
c.1022-1621G>C
c.*278G>C (n.*278G>C)
n.3921G>C
n.2522G>C
c.3033G>C (p.Val1011=)
c.3081G>C (p.Val1027=)
c.3141G>C (p.Val1047=)
c.2691G>C (p.Val897=)
c.993G>C (p.Val331=)
c.877-1621G>C (n.877-1621G>C)
c.3042G>C (p.Val1014=)
c.3061-1621G>C (n.3061-1621G>C)
c.2763G>C (p.Val921=)
c.2731-1621G>C (n.2731-1621G>C)
c.1845G>C (p.Val615=)
n.3396G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944175C>TCA483894685ATP7Bc.*894-1621G>A (n.*894-1621G>A)
c.*1921G>A (n.*1921G>A)
c.2556G>A (p.Val852=)
c.3177G>A (p.Val1059=)
c.2844G>A (p.Val948=)
c.2925G>A (p.Val975=)
c.2943G>A (p.Val981=)
n.3316G>A
n.3540G>A
c.2112G>A (p.Val704=)
c.1887G>A (p.Val629=)
c.2982G>A (p.Val994=)
n.397G>A
c.1022-1621G>A
c.*278G>A (n.*278G>A)
n.3921G>A
n.2522G>A
c.3033G>A (p.Val1011=)
c.3081G>A (p.Val1027=)
c.3141G>A (p.Val1047=)
c.2691G>A (p.Val897=)
c.993G>A (p.Val331=)
c.877-1621G>A (n.877-1621G>A)
c.3042G>A (p.Val1014=)
c.3061-1621G>A (n.3061-1621G>A)
c.2763G>A (p.Val921=)
c.2731-1621G>A (n.2731-1621G>A)
c.1845G>A (p.Val615=)
n.3396G>A
13g.51944176A=CA2091563895ATP7Bc.*894-1622T= (n.*894-1622T=)
c.*1920T= (n.*1920T=)
c.2555T= (p.Val852=)
c.3176T= (p.Val1059=)
c.2843T= (p.Val948=)
c.2924T= (p.Val975=)
c.2942T= (p.Val981=)
n.3315T=
n.3539T=
c.2111T= (p.Val704=)
c.1886T= (p.Val629=)
c.2981T= (p.Val994=)
n.396T=
c.1022-1622T=
c.*277T= (n.*277T=)
n.3920T=
n.2521T=
c.3032T= (p.Val1011=)
c.3080T= (p.Val1027=)
c.3140T= (p.Val1047=)
c.2690T= (p.Val897=)
c.992T= (p.Val331=)
c.877-1622T= (n.877-1622T=)
c.3041T= (p.Val1014=)
c.3061-1622T= (n.3061-1622T=)
c.2762T= (p.Val921=)
c.2731-1622T= (n.2731-1622T=)
c.1844T= (p.Val615=)
n.3395T=
13g.51944176A>CCA388030029ATP7Bc.*894-1622T>G (n.*894-1622T>G)
c.*1920T>G (n.*1920T>G)
c.2555T>G (p.Val852Gly)
c.3176T>G (p.Val1059Gly)
c.2843T>G (p.Val948Gly)
c.2924T>G (p.Val975Gly)
c.2942T>G (p.Val981Gly)
n.3315T>G
n.3539T>G
c.2111T>G (p.Val704Gly)
c.1886T>G (p.Val629Gly)
c.2981T>G (p.Val994Gly)
n.396T>G
c.1022-1622T>G
c.*277T>G (n.*277T>G)
n.3920T>G
n.2521T>G
c.3032T>G (p.Val1011Gly)
c.3080T>G (p.Val1027Gly)
c.3140T>G (p.Val1047Gly)
c.2690T>G (p.Val897Gly)
c.992T>G (p.Val331Gly)
c.877-1622T>G (n.877-1622T>G)
c.3041T>G (p.Val1014Gly)
c.3061-1622T>G (n.3061-1622T>G)
c.2762T>G (p.Val921Gly)
c.2731-1622T>G (n.2731-1622T>G)
c.1844T>G (p.Val615Gly)
n.3395T>G
 dbSNP
13g.51944176A>GCA388030027ATP7Bc.*894-1622T>C (n.*894-1622T>C)
c.*1920T>C (n.*1920T>C)
c.2555T>C (p.Val852Ala)
c.3176T>C (p.Val1059Ala)
c.2843T>C (p.Val948Ala)
c.2924T>C (p.Val975Ala)
c.2942T>C (p.Val981Ala)
n.3315T>C
n.3539T>C
c.2111T>C (p.Val704Ala)
c.1886T>C (p.Val629Ala)
c.2981T>C (p.Val994Ala)
n.396T>C
c.1022-1622T>C
c.*277T>C (n.*277T>C)
n.3920T>C
n.2521T>C
c.3032T>C (p.Val1011Ala)
c.3080T>C (p.Val1027Ala)
c.3140T>C (p.Val1047Ala)
c.2690T>C (p.Val897Ala)
c.992T>C (p.Val331Ala)
c.877-1622T>C (n.877-1622T>C)
c.3041T>C (p.Val1014Ala)
c.3061-1622T>C (n.3061-1622T>C)
c.2762T>C (p.Val921Ala)
c.2731-1622T>C (n.2731-1622T>C)
c.1844T>C (p.Val615Ala)
n.3395T>C
13g.51944176A>TCA388030030ATP7Bc.*894-1622T>A (n.*894-1622T>A)
c.*1920T>A (n.*1920T>A)
c.2555T>A (p.Val852Glu)
c.3176T>A (p.Val1059Glu)
c.2843T>A (p.Val948Glu)
c.2924T>A (p.Val975Glu)
c.2942T>A (p.Val981Glu)
n.3315T>A
n.3539T>A
c.2111T>A (p.Val704Glu)
c.1886T>A (p.Val629Glu)
c.2981T>A (p.Val994Glu)
n.396T>A
c.1022-1622T>A
c.*277T>A (n.*277T>A)
n.3920T>A
n.2521T>A
c.3032T>A (p.Val1011Glu)
c.3080T>A (p.Val1027Glu)
c.3140T>A (p.Val1047Glu)
c.2690T>A (p.Val897Glu)
c.992T>A (p.Val331Glu)
c.877-1622T>A (n.877-1622T>A)
c.3041T>A (p.Val1014Glu)
c.3061-1622T>A (n.3061-1622T>A)
c.2762T>A (p.Val921Glu)
c.2731-1622T>A (n.2731-1622T>A)
c.1844T>A (p.Val615Glu)
n.3395T>A
13g.51944177C>ACA388030032ATP7Bc.*894-1623G>T (n.*894-1623G>T)
c.*1919G>T (n.*1919G>T)
c.2554G>T (p.Val852Leu)
c.3175G>T (p.Val1059Leu)
c.2842G>T (p.Val948Leu)
c.2923G>T (p.Val975Leu)
c.2941G>T (p.Val981Leu)
n.3314G>T
n.3538G>T
c.2110G>T (p.Val704Leu)
c.1885G>T (p.Val629Leu)
c.2980G>T (p.Val994Leu)
n.395G>T
c.1022-1623G>T
c.*276G>T (n.*276G>T)
n.3919G>T
n.2520G>T
c.3031G>T (p.Val1011Leu)
c.3079G>T (p.Val1027Leu)
c.3139G>T (p.Val1047Leu)
c.2689G>T (p.Val897Leu)
c.991G>T (p.Val331Leu)
c.877-1623G>T (n.877-1623G>T)
c.3040G>T (p.Val1014Leu)
c.3061-1623G>T (n.3061-1623G>T)
c.2761G>T (p.Val921Leu)
c.2731-1623G>T (n.2731-1623G>T)
c.1843G>T (p.Val615Leu)
n.3394G>T
13g.51944177C=CA2091563896ATP7Bc.*894-1623G= (n.*894-1623G=)
c.*1919G= (n.*1919G=)
c.2554G= (p.Val852=)
c.3175G= (p.Val1059=)
c.2842G= (p.Val948=)
c.2923G= (p.Val975=)
c.2941G= (p.Val981=)
n.3314G=
n.3538G=
c.2110G= (p.Val704=)
c.1885G= (p.Val629=)
c.2980G= (p.Val994=)
n.395G=
c.1022-1623G=
c.*276G= (n.*276G=)
n.3919G=
n.2520G=
c.3031G= (p.Val1011=)
c.3079G= (p.Val1027=)
c.3139G= (p.Val1047=)
c.2689G= (p.Val897=)
c.991G= (p.Val331=)
c.877-1623G= (n.877-1623G=)
c.3040G= (p.Val1014=)
c.3061-1623G= (n.3061-1623G=)
c.2761G= (p.Val921=)
c.2731-1623G= (n.2731-1623G=)
c.1843G= (p.Val615=)
n.3394G=
13g.51944177C>GCA388030033ATP7Bc.*894-1623G>C (n.*894-1623G>C)
c.*1919G>C (n.*1919G>C)
c.2554G>C (p.Val852Leu)
c.3175G>C (p.Val1059Leu)
c.2842G>C (p.Val948Leu)
c.2923G>C (p.Val975Leu)
c.2941G>C (p.Val981Leu)
n.3314G>C
n.3538G>C
c.2110G>C (p.Val704Leu)
c.1885G>C (p.Val629Leu)
c.2980G>C (p.Val994Leu)
n.395G>C
c.1022-1623G>C
c.*276G>C (n.*276G>C)
n.3919G>C
n.2520G>C
c.3031G>C (p.Val1011Leu)
c.3079G>C (p.Val1027Leu)
c.3139G>C (p.Val1047Leu)
c.2689G>C (p.Val897Leu)
c.991G>C (p.Val331Leu)
c.877-1623G>C (n.877-1623G>C)
c.3040G>C (p.Val1014Leu)
c.3061-1623G>C (n.3061-1623G>C)
c.2761G>C (p.Val921Leu)
c.2731-1623G>C (n.2731-1623G>C)
c.1843G>C (p.Val615Leu)
n.3394G>C
 dbSNP gnomAD v4
13g.51944177C>TCA6988789ATP7Bc.*894-1623G>A (n.*894-1623G>A)
c.*1919G>A (n.*1919G>A)
c.2554G>A (p.Val852Met)
c.3175G>A (p.Val1059Met)
c.2842G>A (p.Val948Met)
c.2923G>A (p.Val975Met)
c.2941G>A (p.Val981Met)
n.3314G>A
n.3538G>A
c.2110G>A (p.Val704Met)
c.1885G>A (p.Val629Met)
c.2980G>A (p.Val994Met)
n.395G>A
c.1022-1623G>A
c.*276G>A (n.*276G>A)
n.3919G>A
n.2520G>A
c.3031G>A (p.Val1011Met)
c.3079G>A (p.Val1027Met)
c.3139G>A (p.Val1047Met)
c.2689G>A (p.Val897Met)
c.991G>A (p.Val331Met)
c.877-1623G>A (n.877-1623G>A)
c.3040G>A (p.Val1014Met)
c.3061-1623G>A (n.3061-1623G>A)
c.2761G>A (p.Val921Met)
c.2731-1623G>A (n.2731-1623G>A)
c.1843G>A (p.Val615Met)
n.3394G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944178A>CCA483894689ATP7Bc.*894-1624T>G (n.*894-1624T>G)
c.*1918T>G (n.*1918T>G)
c.2553T>G (p.Ala851=)
c.3174T>G (p.Ala1058=)
c.2841T>G (p.Ala947=)
c.2922T>G (p.Ala974=)
c.2940T>G (p.Ala980=)
n.3313T>G
n.3537T>G
c.2109T>G (p.Ala703=)
c.1884T>G (p.Ala628=)
c.2979T>G (p.Ala993=)
n.394T>G
c.1022-1624T>G
c.*275T>G (n.*275T>G)
n.3918T>G
n.2519T>G
c.3030T>G (p.Ala1010=)
c.3078T>G (p.Ala1026=)
c.3138T>G (p.Ala1046=)
c.2688T>G (p.Ala896=)
c.990T>G (p.Ala330=)
c.877-1624T>G (n.877-1624T>G)
c.3039T>G (p.Ala1013=)
c.3061-1624T>G (n.3061-1624T>G)
c.2760T>G (p.Ala920=)
c.2731-1624T>G (n.2731-1624T>G)
c.1842T>G (p.Ala614=)
n.3393T>G
13g.51944178A>GCA483894690ATP7Bc.*894-1624T>C (n.*894-1624T>C)
c.*1918T>C (n.*1918T>C)
c.2553T>C (p.Ala851=)
c.3174T>C (p.Ala1058=)
c.2841T>C (p.Ala947=)
c.2922T>C (p.Ala974=)
c.2940T>C (p.Ala980=)
n.3313T>C
n.3537T>C
c.2109T>C (p.Ala703=)
c.1884T>C (p.Ala628=)
c.2979T>C (p.Ala993=)
n.394T>C
c.1022-1624T>C
c.*275T>C (n.*275T>C)
n.3918T>C
n.2519T>C
c.3030T>C (p.Ala1010=)
c.3078T>C (p.Ala1026=)
c.3138T>C (p.Ala1046=)
c.2688T>C (p.Ala896=)
c.990T>C (p.Ala330=)
c.877-1624T>C (n.877-1624T>C)
c.3039T>C (p.Ala1013=)
c.3061-1624T>C (n.3061-1624T>C)
c.2760T>C (p.Ala920=)
c.2731-1624T>C (n.2731-1624T>C)
c.1842T>C (p.Ala614=)
n.3393T>C
 ClinVar dbSNP
13g.51944178A>TCA483894691ATP7Bc.*894-1624T>A (n.*894-1624T>A)
c.*1918T>A (n.*1918T>A)
c.2553T>A (p.Ala851=)
c.3174T>A (p.Ala1058=)
c.2841T>A (p.Ala947=)
c.2922T>A (p.Ala974=)
c.2940T>A (p.Ala980=)
n.3313T>A
n.3537T>A
c.2109T>A (p.Ala703=)
c.1884T>A (p.Ala628=)
c.2979T>A (p.Ala993=)
n.394T>A
c.1022-1624T>A
c.*275T>A (n.*275T>A)
n.3918T>A
n.2519T>A
c.3030T>A (p.Ala1010=)
c.3078T>A (p.Ala1026=)
c.3138T>A (p.Ala1046=)
c.2688T>A (p.Ala896=)
c.990T>A (p.Ala330=)
c.877-1624T>A (n.877-1624T>A)
c.3039T>A (p.Ala1013=)
c.3061-1624T>A (n.3061-1624T>A)
c.2760T>A (p.Ala920=)
c.2731-1624T>A (n.2731-1624T>A)
c.1842T>A (p.Ala614=)
n.3393T>A
13g.51944179G>ACA388030034ATP7Bc.*894-1625C>T (n.*894-1625C>T)
c.*1917C>T (n.*1917C>T)
c.2552C>T (p.Ala851Val)
c.3173C>T (p.Ala1058Val)
c.2840C>T (p.Ala947Val)
c.2921C>T (p.Ala974Val)
c.2939C>T (p.Ala980Val)
n.3312C>T
n.3536C>T
c.2108C>T (p.Ala703Val)
c.1883C>T (p.Ala628Val)
c.2978C>T (p.Ala993Val)
n.393C>T
c.1022-1625C>T
c.*274C>T (n.*274C>T)
n.3917C>T
n.2518C>T
c.3029C>T (p.Ala1010Val)
c.3077C>T (p.Ala1026Val)
c.3137C>T (p.Ala1046Val)
c.2687C>T (p.Ala896Val)
c.989C>T (p.Ala330Val)
c.877-1625C>T (n.877-1625C>T)
c.3038C>T (p.Ala1013Val)
c.3061-1625C>T (n.3061-1625C>T)
c.2759C>T (p.Ala920Val)
c.2731-1625C>T (n.2731-1625C>T)
c.1841C>T (p.Ala614Val)
n.3392C>T
 gnomAD v4
13g.51944179G>CCA388030035ATP7Bc.*894-1625C>G (n.*894-1625C>G)
c.*1917C>G (n.*1917C>G)
c.2552C>G (p.Ala851Gly)
c.3173C>G (p.Ala1058Gly)
c.2840C>G (p.Ala947Gly)
c.2921C>G (p.Ala974Gly)
c.2939C>G (p.Ala980Gly)
n.3312C>G
n.3536C>G
c.2108C>G (p.Ala703Gly)
c.1883C>G (p.Ala628Gly)
c.2978C>G (p.Ala993Gly)
n.393C>G
c.1022-1625C>G
c.*274C>G (n.*274C>G)
n.3917C>G
n.2518C>G
c.3029C>G (p.Ala1010Gly)
c.3077C>G (p.Ala1026Gly)
c.3137C>G (p.Ala1046Gly)
c.2687C>G (p.Ala896Gly)
c.989C>G (p.Ala330Gly)
c.877-1625C>G (n.877-1625C>G)
c.3038C>G (p.Ala1013Gly)
c.3061-1625C>G (n.3061-1625C>G)
c.2759C>G (p.Ala920Gly)
c.2731-1625C>G (n.2731-1625C>G)
c.1841C>G (p.Ala614Gly)
n.3392C>G
13g.51944179G>TCA388030036ATP7Bc.*894-1625C>A (n.*894-1625C>A)
c.*1917C>A (n.*1917C>A)
c.2552C>A (p.Ala851Asp)
c.3173C>A (p.Ala1058Asp)
c.2840C>A (p.Ala947Asp)
c.2921C>A (p.Ala974Asp)
c.2939C>A (p.Ala980Asp)
n.3312C>A
n.3536C>A
c.2108C>A (p.Ala703Asp)
c.1883C>A (p.Ala628Asp)
c.2978C>A (p.Ala993Asp)
n.393C>A
c.1022-1625C>A
c.*274C>A (n.*274C>A)
n.3917C>A
n.2518C>A
c.3029C>A (p.Ala1010Asp)
c.3077C>A (p.Ala1026Asp)
c.3137C>A (p.Ala1046Asp)
c.2687C>A (p.Ala896Asp)
c.989C>A (p.Ala330Asp)
c.877-1625C>A (n.877-1625C>A)
c.3038C>A (p.Ala1013Asp)
c.3061-1625C>A (n.3061-1625C>A)
c.2759C>A (p.Ala920Asp)
c.2731-1625C>A (n.2731-1625C>A)
c.1841C>A (p.Ala614Asp)
n.3392C>A
13g.51944180C>ACA388030039ATP7Bc.*894-1626G>T (n.*894-1626G>T)
c.*1916G>T (n.*1916G>T)
c.2551G>T (p.Ala851Ser)
c.3172G>T (p.Ala1058Ser)
c.2839G>T (p.Ala947Ser)
c.2920G>T (p.Ala974Ser)
c.2938G>T (p.Ala980Ser)
n.3311G>T
n.3535G>T
c.2107G>T (p.Ala703Ser)
c.1882G>T (p.Ala628Ser)
c.2977G>T (p.Ala993Ser)
n.392G>T
c.1022-1626G>T
c.*273G>T (n.*273G>T)
n.3916G>T
n.2517G>T
c.3028G>T (p.Ala1010Ser)
c.3076G>T (p.Ala1026Ser)
c.3136G>T (p.Ala1046Ser)
c.2686G>T (p.Ala896Ser)
c.988G>T (p.Ala330Ser)
c.877-1626G>T (n.877-1626G>T)
c.3037G>T (p.Ala1013Ser)
c.3061-1626G>T (n.3061-1626G>T)
c.2758G>T (p.Ala920Ser)
c.2731-1626G>T (n.2731-1626G>T)
c.1840G>T (p.Ala614Ser)
n.3391G>T
13g.51944180C>GCA388030041ATP7Bc.*894-1626G>C (n.*894-1626G>C)
c.*1916G>C (n.*1916G>C)
c.2551G>C (p.Ala851Pro)
c.3172G>C (p.Ala1058Pro)
c.2839G>C (p.Ala947Pro)
c.2920G>C (p.Ala974Pro)
c.2938G>C (p.Ala980Pro)
n.3311G>C
n.3535G>C
c.2107G>C (p.Ala703Pro)
c.1882G>C (p.Ala628Pro)
c.2977G>C (p.Ala993Pro)
n.392G>C
c.1022-1626G>C
c.*273G>C (n.*273G>C)
n.3916G>C
n.2517G>C
c.3028G>C (p.Ala1010Pro)
c.3076G>C (p.Ala1026Pro)
c.3136G>C (p.Ala1046Pro)
c.2686G>C (p.Ala896Pro)
c.988G>C (p.Ala330Pro)
c.877-1626G>C (n.877-1626G>C)
c.3037G>C (p.Ala1013Pro)
c.3061-1626G>C (n.3061-1626G>C)
c.2758G>C (p.Ala920Pro)
c.2731-1626G>C (n.2731-1626G>C)
c.1840G>C (p.Ala614Pro)
n.3391G>C
13g.51944180C>TCA388030044ATP7Bc.*894-1626G>A (n.*894-1626G>A)
c.*1916G>A (n.*1916G>A)
c.2551G>A (p.Ala851Thr)
c.3172G>A (p.Ala1058Thr)
c.2839G>A (p.Ala947Thr)
c.2920G>A (p.Ala974Thr)
c.2938G>A (p.Ala980Thr)
n.3311G>A
n.3535G>A
c.2107G>A (p.Ala703Thr)
c.1882G>A (p.Ala628Thr)
c.2977G>A (p.Ala993Thr)
n.392G>A
c.1022-1626G>A
c.*273G>A (n.*273G>A)
n.3916G>A
n.2517G>A
c.3028G>A (p.Ala1010Thr)
c.3076G>A (p.Ala1026Thr)
c.3136G>A (p.Ala1046Thr)
c.2686G>A (p.Ala896Thr)
c.988G>A (p.Ala330Thr)
c.877-1626G>A (n.877-1626G>A)
c.3037G>A (p.Ala1013Thr)
c.3061-1626G>A (n.3061-1626G>A)
c.2758G>A (p.Ala920Thr)
c.2731-1626G>A (n.2731-1626G>A)
c.1840G>A (p.Ala614Thr)
n.3391G>A
13g.51944181C>ACA483894692ATP7Bc.*894-1627G>T (n.*894-1627G>T)
c.*1915G>T (n.*1915G>T)
c.2550G>T (p.Leu850=)
c.3171G>T (p.Leu1057=)
c.2838G>T (p.Leu946=)
c.2919G>T (p.Leu973=)
c.2937G>T (p.Leu979=)
n.3310G>T
n.3534G>T
c.2106G>T (p.Leu702=)
c.1881G>T (p.Leu627=)
c.2976G>T (p.Leu992=)
n.391G>T
c.1022-1627G>T
c.*272G>T (n.*272G>T)
n.3915G>T
n.2516G>T
c.3027G>T (p.Leu1009=)
c.3075G>T (p.Leu1025=)
c.3135G>T (p.Leu1045=)
c.2685G>T (p.Leu895=)
c.987G>T (p.Leu329=)
c.877-1627G>T (n.877-1627G>T)
c.3036G>T (p.Leu1012=)
c.3061-1627G>T (n.3061-1627G>T)
c.2757G>T (p.Leu919=)
c.2731-1627G>T (n.2731-1627G>T)
c.1839G>T (p.Leu613=)
n.3390G>T
13g.51944181C>GCA483894693ATP7Bc.*894-1627G>C (n.*894-1627G>C)
c.*1915G>C (n.*1915G>C)
c.2550G>C (p.Leu850=)
c.3171G>C (p.Leu1057=)
c.2838G>C (p.Leu946=)
c.2919G>C (p.Leu973=)
c.2937G>C (p.Leu979=)
n.3310G>C
n.3534G>C
c.2106G>C (p.Leu702=)
c.1881G>C (p.Leu627=)
c.2976G>C (p.Leu992=)
n.391G>C
c.1022-1627G>C
c.*272G>C (n.*272G>C)
n.3915G>C
n.2516G>C
c.3027G>C (p.Leu1009=)
c.3075G>C (p.Leu1025=)
c.3135G>C (p.Leu1045=)
c.2685G>C (p.Leu895=)
c.987G>C (p.Leu329=)
c.877-1627G>C (n.877-1627G>C)
c.3036G>C (p.Leu1012=)
c.3061-1627G>C (n.3061-1627G>C)
c.2757G>C (p.Leu919=)
c.2731-1627G>C (n.2731-1627G>C)
c.1839G>C (p.Leu613=)
n.3390G>C
13g.51944181C>TCA483894694ATP7Bc.*894-1627G>A (n.*894-1627G>A)
c.*1915G>A (n.*1915G>A)
c.2550G>A (p.Leu850=)
c.3171G>A (p.Leu1057=)
c.2838G>A (p.Leu946=)
c.2919G>A (p.Leu973=)
c.2937G>A (p.Leu979=)
n.3310G>A
n.3534G>A
c.2106G>A (p.Leu702=)
c.1881G>A (p.Leu627=)
c.2976G>A (p.Leu992=)
n.391G>A
c.1022-1627G>A
c.*272G>A (n.*272G>A)
n.3915G>A
n.2516G>A
c.3027G>A (p.Leu1009=)
c.3075G>A (p.Leu1025=)
c.3135G>A (p.Leu1045=)
c.2685G>A (p.Leu895=)
c.987G>A (p.Leu329=)
c.877-1627G>A (n.877-1627G>A)
c.3036G>A (p.Leu1012=)
c.3061-1627G>A (n.3061-1627G>A)
c.2757G>A (p.Leu919=)
c.2731-1627G>A (n.2731-1627G>A)
c.1839G>A (p.Leu613=)
n.3390G>A
13g.51944182A=CA2091563901ATP7Bc.*894-1628T= (n.*894-1628T=)
c.*1914T= (n.*1914T=)
c.2549T= (p.Leu850=)
c.3170T= (p.Leu1057=)
c.2837T= (p.Leu946=)
c.2918T= (p.Leu973=)
c.2936T= (p.Leu979=)
n.3309T=
n.3533T=
c.2105T= (p.Leu702=)
c.1880T= (p.Leu627=)
c.2975T= (p.Leu992=)
n.390T=
c.1022-1628T=
c.*271T= (n.*271T=)
n.3914T=
n.2515T=
c.3026T= (p.Leu1009=)
c.3074T= (p.Leu1025=)
c.3134T= (p.Leu1045=)
c.2684T= (p.Leu895=)
c.986T= (p.Leu329=)
c.877-1628T= (n.877-1628T=)
c.3035T= (p.Leu1012=)
c.3061-1628T= (n.3061-1628T=)
c.2756T= (p.Leu919=)
c.2731-1628T= (n.2731-1628T=)
c.1838T= (p.Leu613=)
n.3389T=
13g.51944182A>CCA388030046ATP7Bc.*894-1628T>G (n.*894-1628T>G)
c.*1914T>G (n.*1914T>G)
c.2549T>G (p.Leu850Arg)
c.3170T>G (p.Leu1057Arg)
c.2837T>G (p.Leu946Arg)
c.2918T>G (p.Leu973Arg)
c.2936T>G (p.Leu979Arg)
n.3309T>G
n.3533T>G
c.2105T>G (p.Leu702Arg)
c.1880T>G (p.Leu627Arg)
c.2975T>G (p.Leu992Arg)
n.390T>G
c.1022-1628T>G
c.*271T>G (n.*271T>G)
n.3914T>G
n.2515T>G
c.3026T>G (p.Leu1009Arg)
c.3074T>G (p.Leu1025Arg)
c.3134T>G (p.Leu1045Arg)
c.2684T>G (p.Leu895Arg)
c.986T>G (p.Leu329Arg)
c.877-1628T>G (n.877-1628T>G)
c.3035T>G (p.Leu1012Arg)
c.3061-1628T>G (n.3061-1628T>G)
c.2756T>G (p.Leu919Arg)
c.2731-1628T>G (n.2731-1628T>G)
c.1838T>G (p.Leu613Arg)
n.3389T>G
13g.51944182A>GCA6988790ATP7Bc.*894-1628T>C (n.*894-1628T>C)
c.*1914T>C (n.*1914T>C)
c.2549T>C (p.Leu850Pro)
c.3170T>C (p.Leu1057Pro)
c.2837T>C (p.Leu946Pro)
c.2918T>C (p.Leu973Pro)
c.2936T>C (p.Leu979Pro)
n.3309T>C
n.3533T>C
c.2105T>C (p.Leu702Pro)
c.1880T>C (p.Leu627Pro)
c.2975T>C (p.Leu992Pro)
n.390T>C
c.1022-1628T>C
c.*271T>C (n.*271T>C)
n.3914T>C
n.2515T>C
c.3026T>C (p.Leu1009Pro)
c.3074T>C (p.Leu1025Pro)
c.3134T>C (p.Leu1045Pro)
c.2684T>C (p.Leu895Pro)
c.986T>C (p.Leu329Pro)
c.877-1628T>C (n.877-1628T>C)
c.3035T>C (p.Leu1012Pro)
c.3061-1628T>C (n.3061-1628T>C)
c.2756T>C (p.Leu919Pro)
c.2731-1628T>C (n.2731-1628T>C)
c.1838T>C (p.Leu613Pro)
n.3389T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944182A>TCA388030048ATP7Bc.*894-1628T>A (n.*894-1628T>A)
c.*1914T>A (n.*1914T>A)
c.2549T>A (p.Leu850Gln)
c.3170T>A (p.Leu1057Gln)
c.2837T>A (p.Leu946Gln)
c.2918T>A (p.Leu973Gln)
c.2936T>A (p.Leu979Gln)
n.3309T>A
n.3533T>A
c.2105T>A (p.Leu702Gln)
c.1880T>A (p.Leu627Gln)
c.2975T>A (p.Leu992Gln)
n.390T>A
c.1022-1628T>A
c.*271T>A (n.*271T>A)
n.3914T>A
n.2515T>A
c.3026T>A (p.Leu1009Gln)
c.3074T>A (p.Leu1025Gln)
c.3134T>A (p.Leu1045Gln)
c.2684T>A (p.Leu895Gln)
c.986T>A (p.Leu329Gln)
c.877-1628T>A (n.877-1628T>A)
c.3035T>A (p.Leu1012Gln)
c.3061-1628T>A (n.3061-1628T>A)
c.2756T>A (p.Leu919Gln)
c.2731-1628T>A (n.2731-1628T>A)
c.1838T>A (p.Leu613Gln)
n.3389T>A
13g.51944183G>ACA171308ATP7Bc.*894-1629C>T (n.*894-1629C>T)
c.*1913C>T (n.*1913C>T)
c.2548C>T (p.Leu850=)
c.3169C>T (p.Leu1057=)
c.2836C>T (p.Leu946=)
c.2917C>T (p.Leu973=)
c.2935C>T (p.Leu979=)
n.3308C>T
n.3532C>T
c.2104C>T (p.Leu702=)
c.1879C>T (p.Leu627=)
c.2974C>T (p.Leu992=)
n.389C>T
c.1022-1629C>T
c.*270C>T (n.*270C>T)
n.3913C>T
n.2514C>T
c.3025C>T (p.Leu1009=)
c.3073C>T (p.Leu1025=)
c.3133C>T (p.Leu1045=)
c.2683C>T (p.Leu895=)
c.985C>T (p.Leu329=)
c.877-1629C>T (n.877-1629C>T)
c.3034C>T (p.Leu1012=)
c.3061-1629C>T (n.3061-1629C>T)
c.2755C>T (p.Leu919=)
c.2731-1629C>T (n.2731-1629C>T)
c.1837C>T (p.Leu613=)
n.3388C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944183G>CCA388030051ATP7Bc.*894-1629C>G (n.*894-1629C>G)
c.*1913C>G (n.*1913C>G)
c.2548C>G (p.Leu850Val)
c.3169C>G (p.Leu1057Val)
c.2836C>G (p.Leu946Val)
c.2917C>G (p.Leu973Val)
c.2935C>G (p.Leu979Val)
n.3308C>G
n.3532C>G
c.2104C>G (p.Leu702Val)
c.1879C>G (p.Leu627Val)
c.2974C>G (p.Leu992Val)
n.389C>G
c.1022-1629C>G
c.*270C>G (n.*270C>G)
n.3913C>G
n.2514C>G
c.3025C>G (p.Leu1009Val)
c.3073C>G (p.Leu1025Val)
c.3133C>G (p.Leu1045Val)
c.2683C>G (p.Leu895Val)
c.985C>G (p.Leu329Val)
c.877-1629C>G (n.877-1629C>G)
c.3034C>G (p.Leu1012Val)
c.3061-1629C>G (n.3061-1629C>G)
c.2755C>G (p.Leu919Val)
c.2731-1629C>G (n.2731-1629C>G)
c.1837C>G (p.Leu613Val)
n.3388C>G
13g.51944183G=CA2091563903ATP7Bc.*894-1629C= (n.*894-1629C=)
c.*1913C= (n.*1913C=)
c.2548C= (p.Leu850=)
c.3169C= (p.Leu1057=)
c.2836C= (p.Leu946=)
c.2917C= (p.Leu973=)
c.2935C= (p.Leu979=)
n.3308C=
n.3532C=
c.2104C= (p.Leu702=)
c.1879C= (p.Leu627=)
c.2974C= (p.Leu992=)
n.389C=
c.1022-1629C=
c.*270C= (n.*270C=)
n.3913C=
n.2514C=
c.3025C= (p.Leu1009=)
c.3073C= (p.Leu1025=)
c.3133C= (p.Leu1045=)
c.2683C= (p.Leu895=)
c.985C= (p.Leu329=)
c.877-1629C= (n.877-1629C=)
c.3034C= (p.Leu1012=)
c.3061-1629C= (n.3061-1629C=)
c.2755C= (p.Leu919=)
c.2731-1629C= (n.2731-1629C=)
c.1837C= (p.Leu613=)
n.3388C=
13g.51944183G>TCA388030053ATP7Bc.*894-1629C>A (n.*894-1629C>A)
c.*1913C>A (n.*1913C>A)
c.2548C>A (p.Leu850Met)
c.3169C>A (p.Leu1057Met)
c.2836C>A (p.Leu946Met)
c.2917C>A (p.Leu973Met)
c.2935C>A (p.Leu979Met)
n.3308C>A
n.3532C>A
c.2104C>A (p.Leu702Met)
c.1879C>A (p.Leu627Met)
c.2974C>A (p.Leu992Met)
n.389C>A
c.1022-1629C>A
c.*270C>A (n.*270C>A)
n.3913C>A
n.2514C>A
c.3025C>A (p.Leu1009Met)
c.3073C>A (p.Leu1025Met)
c.3133C>A (p.Leu1045Met)
c.2683C>A (p.Leu895Met)
c.985C>A (p.Leu329Met)
c.877-1629C>A (n.877-1629C>A)
c.3034C>A (p.Leu1012Met)
c.3061-1629C>A (n.3061-1629C>A)
c.2755C>A (p.Leu919Met)
c.2731-1629C>A (n.2731-1629C>A)
c.1837C>A (p.Leu613Met)
n.3388C>A
13g.51944184A>CCA483894695ATP7Bc.*894-1630T>G (n.*894-1630T>G)
c.*1912T>G (n.*1912T>G)
c.2547T>G (p.Val849=)
c.3168T>G (p.Val1056=)
c.2835T>G (p.Val945=)
c.2916T>G (p.Val972=)
c.2934T>G (p.Val978=)
n.3307T>G
n.3531T>G
c.2103T>G (p.Val701=)
c.1878T>G (p.Val626=)
c.2973T>G (p.Val991=)
n.388T>G
c.1022-1630T>G
c.*269T>G (n.*269T>G)
n.3912T>G
n.2513T>G
c.3024T>G (p.Val1008=)
c.3072T>G (p.Val1024=)
c.3132T>G (p.Val1044=)
c.2682T>G (p.Val894=)
c.984T>G (p.Val328=)
c.877-1630T>G (n.877-1630T>G)
c.3033T>G (p.Val1011=)
c.3061-1630T>G (n.3061-1630T>G)
c.2754T>G (p.Val918=)
c.2731-1630T>G (n.2731-1630T>G)
c.1836T>G (p.Val612=)
n.3387T>G
13g.51944184A>GCA483894696ATP7Bc.*894-1630T>C (n.*894-1630T>C)
c.*1912T>C (n.*1912T>C)
c.2547T>C (p.Val849=)
c.3168T>C (p.Val1056=)
c.2835T>C (p.Val945=)
c.2916T>C (p.Val972=)
c.2934T>C (p.Val978=)
n.3307T>C
n.3531T>C
c.2103T>C (p.Val701=)
c.1878T>C (p.Val626=)
c.2973T>C (p.Val991=)
n.388T>C
c.1022-1630T>C
c.*269T>C (n.*269T>C)
n.3912T>C
n.2513T>C
c.3024T>C (p.Val1008=)
c.3072T>C (p.Val1024=)
c.3132T>C (p.Val1044=)
c.2682T>C (p.Val894=)
c.984T>C (p.Val328=)
c.877-1630T>C (n.877-1630T>C)
c.3033T>C (p.Val1011=)
c.3061-1630T>C (n.3061-1630T>C)
c.2754T>C (p.Val918=)
c.2731-1630T>C (n.2731-1630T>C)
c.1836T>C (p.Val612=)
n.3387T>C
13g.51944184A>TCA483894697ATP7Bc.*894-1630T>A (n.*894-1630T>A)
c.*1912T>A (n.*1912T>A)
c.2547T>A (p.Val849=)
c.3168T>A (p.Val1056=)
c.2835T>A (p.Val945=)
c.2916T>A (p.Val972=)
c.2934T>A (p.Val978=)
n.3307T>A
n.3531T>A
c.2103T>A (p.Val701=)
c.1878T>A (p.Val626=)
c.2973T>A (p.Val991=)
n.388T>A
c.1022-1630T>A
c.*269T>A (n.*269T>A)
n.3912T>A
n.2513T>A
c.3024T>A (p.Val1008=)
c.3072T>A (p.Val1024=)
c.3132T>A (p.Val1044=)
c.2682T>A (p.Val894=)
c.984T>A (p.Val328=)
c.877-1630T>A (n.877-1630T>A)
c.3033T>A (p.Val1011=)
c.3061-1630T>A (n.3061-1630T>A)
c.2754T>A (p.Val918=)
c.2731-1630T>A (n.2731-1630T>A)
c.1836T>A (p.Val612=)
n.3387T>A
13g.51944185delCA2499222490ATP7Bc.*894-1630del (n.*894-1630del)
c.*1912del (n.*1912del)
c.2547del (p.Leu850TrpfsTer?)
c.3168del (p.Leu1057TrpfsTer?)
c.2835del (p.Leu946TrpfsTer?)
c.2916del (p.Leu973TrpfsTer?)
c.2934del (p.Leu979TrpfsTer?)
n.3307del
n.3531del
c.2103del (p.Leu702TrpfsTer?)
c.1878del (p.Leu627TrpfsTer?)
c.2973del (p.Leu992TrpfsTer?)
n.388del
c.1022-1630del
c.*269del (n.*269del)
n.3912del
n.2513del
c.3024del (p.Leu1009TrpfsTer?)
c.3072del (p.Leu1025TrpfsTer?)
c.3132del (p.Leu1045TrpfsTer?)
c.2682del (p.Leu895TrpfsTer?)
c.984del (p.Leu329TrpfsTer?)
c.877-1630del (n.877-1630del)
c.3033del (p.Leu1012TrpfsTer?)
c.3061-1630del (n.3061-1630del)
c.2754del (p.Leu919TrpfsTer?)
c.2731-1630del (n.2731-1630del)
c.1836del (p.Leu613TrpfsTer?)
n.3387del
 ClinVar dbSNP
13g.51944185A>CCA388030055ATP7Bc.*894-1631T>G (n.*894-1631T>G)
c.*1911T>G (n.*1911T>G)
c.2546T>G (p.Val849Gly)
c.3167T>G (p.Val1056Gly)
c.2834T>G (p.Val945Gly)
c.2915T>G (p.Val972Gly)
c.2933T>G (p.Val978Gly)
n.3306T>G
n.3530T>G
c.2102T>G (p.Val701Gly)
c.1877T>G (p.Val626Gly)
c.2972T>G (p.Val991Gly)
n.387T>G
c.1022-1631T>G
c.*268T>G (n.*268T>G)
n.3911T>G
n.2512T>G
c.3023T>G (p.Val1008Gly)
c.3071T>G (p.Val1024Gly)
c.3131T>G (p.Val1044Gly)
c.2681T>G (p.Val894Gly)
c.983T>G (p.Val328Gly)
c.877-1631T>G (n.877-1631T>G)
c.3032T>G (p.Val1011Gly)
c.3061-1631T>G (n.3061-1631T>G)
c.2753T>G (p.Val918Gly)
c.2731-1631T>G (n.2731-1631T>G)
c.1835T>G (p.Val612Gly)
n.3386T>G
13g.51944185A>GCA388030057ATP7Bc.*894-1631T>C (n.*894-1631T>C)
c.*1911T>C (n.*1911T>C)
c.2546T>C (p.Val849Ala)
c.3167T>C (p.Val1056Ala)
c.2834T>C (p.Val945Ala)
c.2915T>C (p.Val972Ala)
c.2933T>C (p.Val978Ala)
n.3306T>C
n.3530T>C
c.2102T>C (p.Val701Ala)
c.1877T>C (p.Val626Ala)
c.2972T>C (p.Val991Ala)
n.387T>C
c.1022-1631T>C
c.*268T>C (n.*268T>C)
n.3911T>C
n.2512T>C
c.3023T>C (p.Val1008Ala)
c.3071T>C (p.Val1024Ala)
c.3131T>C (p.Val1044Ala)
c.2681T>C (p.Val894Ala)
c.983T>C (p.Val328Ala)
c.877-1631T>C (n.877-1631T>C)
c.3032T>C (p.Val1011Ala)
c.3061-1631T>C (n.3061-1631T>C)
c.2753T>C (p.Val918Ala)
c.2731-1631T>C (n.2731-1631T>C)
c.1835T>C (p.Val612Ala)
n.3386T>C
13g.51944185A>TCA388030060ATP7Bc.*894-1631T>A (n.*894-1631T>A)
c.*1911T>A (n.*1911T>A)
c.2546T>A (p.Val849Asp)
c.3167T>A (p.Val1056Asp)
c.2834T>A (p.Val945Asp)
c.2915T>A (p.Val972Asp)
c.2933T>A (p.Val978Asp)
n.3306T>A
n.3530T>A
c.2102T>A (p.Val701Asp)
c.1877T>A (p.Val626Asp)
c.2972T>A (p.Val991Asp)
n.387T>A
c.1022-1631T>A
c.*268T>A (n.*268T>A)
n.3911T>A
n.2512T>A
c.3023T>A (p.Val1008Asp)
c.3071T>A (p.Val1024Asp)
c.3131T>A (p.Val1044Asp)
c.2681T>A (p.Val894Asp)
c.983T>A (p.Val328Asp)
c.877-1631T>A (n.877-1631T>A)
c.3032T>A (p.Val1011Asp)
c.3061-1631T>A (n.3061-1631T>A)
c.2753T>A (p.Val918Asp)
c.2731-1631T>A (n.2731-1631T>A)
c.1835T>A (p.Val612Asp)
n.3386T>A
13g.51944186C>ACA388030061ATP7Bc.*894-1632G>T (n.*894-1632G>T)
c.*1910G>T (n.*1910G>T)
c.2545G>T (p.Val849Phe)
c.3166G>T (p.Val1056Phe)
c.2833G>T (p.Val945Phe)
c.2914G>T (p.Val972Phe)
c.2932G>T (p.Val978Phe)
n.3305G>T
n.3529G>T
c.2101G>T (p.Val701Phe)
c.1876G>T (p.Val626Phe)
c.2971G>T (p.Val991Phe)
n.386G>T
c.1022-1632G>T
c.*267G>T (n.*267G>T)
n.3910G>T
n.2511G>T
c.3022G>T (p.Val1008Phe)
c.3070G>T (p.Val1024Phe)
c.3130G>T (p.Val1044Phe)
c.2680G>T (p.Val894Phe)
c.982G>T (p.Val328Phe)
c.877-1632G>T (n.877-1632G>T)
c.3031G>T (p.Val1011Phe)
c.3061-1632G>T (n.3061-1632G>T)
c.2752G>T (p.Val918Phe)
c.2731-1632G>T (n.2731-1632G>T)
c.1834G>T (p.Val612Phe)
n.3385G>T
13g.51944186C=CA2091563907ATP7Bc.*894-1632G= (n.*894-1632G=)
c.*1910G= (n.*1910G=)
c.2545G= (p.Val849=)
c.3166G= (p.Val1056=)
c.2833G= (p.Val945=)
c.2914G= (p.Val972=)
c.2932G= (p.Val978=)
n.3305G=
n.3529G=
c.2101G= (p.Val701=)
c.1876G= (p.Val626=)
c.2971G= (p.Val991=)
n.386G=
c.1022-1632G=
c.*267G= (n.*267G=)
n.3910G=
n.2511G=
c.3022G= (p.Val1008=)
c.3070G= (p.Val1024=)
c.3130G= (p.Val1044=)
c.2680G= (p.Val894=)
c.982G= (p.Val328=)
c.877-1632G= (n.877-1632G=)
c.3031G= (p.Val1011=)
c.3061-1632G= (n.3061-1632G=)
c.2752G= (p.Val918=)
c.2731-1632G= (n.2731-1632G=)
c.1834G= (p.Val612=)
n.3385G=
13g.51944186C>GCA388030064ATP7Bc.*894-1632G>C (n.*894-1632G>C)
c.*1910G>C (n.*1910G>C)
c.2545G>C (p.Val849Leu)
c.3166G>C (p.Val1056Leu)
c.2833G>C (p.Val945Leu)
c.2914G>C (p.Val972Leu)
c.2932G>C (p.Val978Leu)
n.3305G>C
n.3529G>C
c.2101G>C (p.Val701Leu)
c.1876G>C (p.Val626Leu)
c.2971G>C (p.Val991Leu)
n.386G>C
c.1022-1632G>C
c.*267G>C (n.*267G>C)
n.3910G>C
n.2511G>C
c.3022G>C (p.Val1008Leu)
c.3070G>C (p.Val1024Leu)
c.3130G>C (p.Val1044Leu)
c.2680G>C (p.Val894Leu)
c.982G>C (p.Val328Leu)
c.877-1632G>C (n.877-1632G>C)
c.3031G>C (p.Val1011Leu)
c.3061-1632G>C (n.3061-1632G>C)
c.2752G>C (p.Val918Leu)
c.2731-1632G>C (n.2731-1632G>C)
c.1834G>C (p.Val612Leu)
n.3385G>C
13g.51944186C>TCA388030072ATP7Bc.*894-1632G>A (n.*894-1632G>A)
c.*1910G>A (n.*1910G>A)
c.2545G>A (p.Val849Ile)
c.3166G>A (p.Val1056Ile)
c.2833G>A (p.Val945Ile)
c.2914G>A (p.Val972Ile)
c.2932G>A (p.Val978Ile)
n.3305G>A
n.3529G>A
c.2101G>A (p.Val701Ile)
c.1876G>A (p.Val626Ile)
c.2971G>A (p.Val991Ile)
n.386G>A
c.1022-1632G>A
c.*267G>A (n.*267G>A)
n.3910G>A
n.2511G>A
c.3022G>A (p.Val1008Ile)
c.3070G>A (p.Val1024Ile)
c.3130G>A (p.Val1044Ile)
c.2680G>A (p.Val894Ile)
c.982G>A (p.Val328Ile)
c.877-1632G>A (n.877-1632G>A)
c.3031G>A (p.Val1011Ile)
c.3061-1632G>A (n.3061-1632G>A)
c.2752G>A (p.Val918Ile)
c.2731-1632G>A (n.2731-1632G>A)
c.1834G>A (p.Val612Ile)
n.3385G>A
 dbSNP
13g.51944187C>ACA388030074ATP7Bc.*894-1633G>T (n.*894-1633G>T)
c.*1909G>T (n.*1909G>T)
c.2544G>T (p.Lys848Asn)
c.3165G>T (p.Lys1055Asn)
c.2832G>T (p.Lys944Asn)
c.2913G>T (p.Lys971Asn)
c.2931G>T (p.Lys977Asn)
n.3304G>T
n.3528G>T
c.2100G>T (p.Lys700Asn)
c.1875G>T (p.Lys625Asn)
c.2970G>T (p.Lys990Asn)
n.385G>T
c.1022-1633G>T
c.*266G>T (n.*266G>T)
n.3909G>T
n.2510G>T
c.3021G>T (p.Lys1007Asn)
c.3069G>T (p.Lys1023Asn)
c.3129G>T (p.Lys1043Asn)
c.2679G>T (p.Lys893Asn)
c.981G>T (p.Lys327Asn)
c.877-1633G>T (n.877-1633G>T)
c.3030G>T (p.Lys1010Asn)
c.3061-1633G>T (n.3061-1633G>T)
c.2751G>T (p.Lys917Asn)
c.2731-1633G>T (n.2731-1633G>T)
c.1833G>T (p.Lys611Asn)
n.3384G>T
13g.51944187C>GCA388030077ATP7Bc.*894-1633G>C (n.*894-1633G>C)
c.*1909G>C (n.*1909G>C)
c.2544G>C (p.Lys848Asn)
c.3165G>C (p.Lys1055Asn)
c.2832G>C (p.Lys944Asn)
c.2913G>C (p.Lys971Asn)
c.2931G>C (p.Lys977Asn)
n.3304G>C
n.3528G>C
c.2100G>C (p.Lys700Asn)
c.1875G>C (p.Lys625Asn)
c.2970G>C (p.Lys990Asn)
n.385G>C
c.1022-1633G>C
c.*266G>C (n.*266G>C)
n.3909G>C
n.2510G>C
c.3021G>C (p.Lys1007Asn)
c.3069G>C (p.Lys1023Asn)
c.3129G>C (p.Lys1043Asn)
c.2679G>C (p.Lys893Asn)
c.981G>C (p.Lys327Asn)
c.877-1633G>C (n.877-1633G>C)
c.3030G>C (p.Lys1010Asn)
c.3061-1633G>C (n.3061-1633G>C)
c.2751G>C (p.Lys917Asn)
c.2731-1633G>C (n.2731-1633G>C)
c.1833G>C (p.Lys611Asn)
n.3384G>C
13g.51944187C>TCA483894698ATP7Bc.*894-1633G>A (n.*894-1633G>A)
c.*1909G>A (n.*1909G>A)
c.2544G>A (p.Lys848=)
c.3165G>A (p.Lys1055=)
c.2832G>A (p.Lys944=)
c.2913G>A (p.Lys971=)
c.2931G>A (p.Lys977=)
n.3304G>A
n.3528G>A
c.2100G>A (p.Lys700=)
c.1875G>A (p.Lys625=)
c.2970G>A (p.Lys990=)
n.385G>A
c.1022-1633G>A
c.*266G>A (n.*266G>A)
n.3909G>A
n.2510G>A
c.3021G>A (p.Lys1007=)
c.3069G>A (p.Lys1023=)
c.3129G>A (p.Lys1043=)
c.2679G>A (p.Lys893=)
c.981G>A (p.Lys327=)
c.877-1633G>A (n.877-1633G>A)
c.3030G>A (p.Lys1010=)
c.3061-1633G>A (n.3061-1633G>A)
c.2751G>A (p.Lys917=)
c.2731-1633G>A (n.2731-1633G>A)
c.1833G>A (p.Lys611=)
n.3384G>A
13g.51944188T>ACA388030079ATP7Bc.*894-1634A>T (n.*894-1634A>T)
c.*1908A>T (n.*1908A>T)
c.2543A>T (p.Lys848Met)
c.3164A>T (p.Lys1055Met)
c.2831A>T (p.Lys944Met)
c.2912A>T (p.Lys971Met)
c.2930A>T (p.Lys977Met)
n.3303A>T
n.3527A>T
c.2099A>T (p.Lys700Met)
c.1874A>T (p.Lys625Met)
c.2969A>T (p.Lys990Met)
n.384A>T
c.1022-1634A>T
c.*265A>T (n.*265A>T)
n.3908A>T
n.2509A>T
c.3020A>T (p.Lys1007Met)
c.3068A>T (p.Lys1023Met)
c.3128A>T (p.Lys1043Met)
c.2678A>T (p.Lys893Met)
c.980A>T (p.Lys327Met)
c.877-1634A>T (n.877-1634A>T)
c.3029A>T (p.Lys1010Met)
c.3061-1634A>T (n.3061-1634A>T)
c.2750A>T (p.Lys917Met)
c.2731-1634A>T (n.2731-1634A>T)
c.1832A>T (p.Lys611Met)
n.3383A>T
 gnomAD v4
13g.51944188T>CCA388030080ATP7Bc.*894-1634A>G (n.*894-1634A>G)
c.*1908A>G (n.*1908A>G)
c.2543A>G (p.Lys848Arg)
c.3164A>G (p.Lys1055Arg)
c.2831A>G (p.Lys944Arg)
c.2912A>G (p.Lys971Arg)
c.2930A>G (p.Lys977Arg)
n.3303A>G
n.3527A>G
c.2099A>G (p.Lys700Arg)
c.1874A>G (p.Lys625Arg)
c.2969A>G (p.Lys990Arg)
n.384A>G
c.1022-1634A>G
c.*265A>G (n.*265A>G)
n.3908A>G
n.2509A>G
c.3020A>G (p.Lys1007Arg)
c.3068A>G (p.Lys1023Arg)
c.3128A>G (p.Lys1043Arg)
c.2678A>G (p.Lys893Arg)
c.980A>G (p.Lys327Arg)
c.877-1634A>G (n.877-1634A>G)
c.3029A>G (p.Lys1010Arg)
c.3061-1634A>G (n.3061-1634A>G)
c.2750A>G (p.Lys917Arg)
c.2731-1634A>G (n.2731-1634A>G)
c.1832A>G (p.Lys611Arg)
n.3383A>G
13g.51944188T>GCA388030087ATP7Bc.*894-1634A>C (n.*894-1634A>C)
c.*1908A>C (n.*1908A>C)
c.2543A>C (p.Lys848Thr)
c.3164A>C (p.Lys1055Thr)
c.2831A>C (p.Lys944Thr)
c.2912A>C (p.Lys971Thr)
c.2930A>C (p.Lys977Thr)
n.3303A>C
n.3527A>C
c.2099A>C (p.Lys700Thr)
c.1874A>C (p.Lys625Thr)
c.2969A>C (p.Lys990Thr)
n.384A>C
c.1022-1634A>C
c.*265A>C (n.*265A>C)
n.3908A>C
n.2509A>C
c.3020A>C (p.Lys1007Thr)
c.3068A>C (p.Lys1023Thr)
c.3128A>C (p.Lys1043Thr)
c.2678A>C (p.Lys893Thr)
c.980A>C (p.Lys327Thr)
c.877-1634A>C (n.877-1634A>C)
c.3029A>C (p.Lys1010Thr)
c.3061-1634A>C (n.3061-1634A>C)
c.2750A>C (p.Lys917Thr)
c.2731-1634A>C (n.2731-1634A>C)
c.1832A>C (p.Lys611Thr)
n.3383A>C
13g.51944189T>ACA388030094ATP7Bc.*894-1635A>T (n.*894-1635A>T)
c.*1907A>T (n.*1907A>T)
c.2542A>T (p.Lys848Ter)
c.3163A>T (p.Lys1055Ter)
c.2830A>T (p.Lys944Ter)
c.2911A>T (p.Lys971Ter)
c.2929A>T (p.Lys977Ter)
n.3302A>T
n.3526A>T
c.2098A>T (p.Lys700Ter)
c.1873A>T (p.Lys625Ter)
c.2968A>T (p.Lys990Ter)
n.383A>T
c.1022-1635A>T
c.*264A>T (n.*264A>T)
n.3907A>T
n.2508A>T
c.3019A>T (p.Lys1007Ter)
c.3067A>T (p.Lys1023Ter)
c.3127A>T (p.Lys1043Ter)
c.2677A>T (p.Lys893Ter)
c.979A>T (p.Lys327Ter)
c.877-1635A>T (n.877-1635A>T)
c.3028A>T (p.Lys1010Ter)
c.3061-1635A>T (n.3061-1635A>T)
c.2749A>T (p.Lys917Ter)
c.2731-1635A>T (n.2731-1635A>T)
c.1831A>T (p.Lys611Ter)
n.3382A>T
 ClinVar dbSNP
13g.51944189T>CCA388030093ATP7Bc.*894-1635A>G (n.*894-1635A>G)
c.*1907A>G (n.*1907A>G)
c.2542A>G (p.Lys848Glu)
c.3163A>G (p.Lys1055Glu)
c.2830A>G (p.Lys944Glu)
c.2911A>G (p.Lys971Glu)
c.2929A>G (p.Lys977Glu)
n.3302A>G
n.3526A>G
c.2098A>G (p.Lys700Glu)
c.1873A>G (p.Lys625Glu)
c.2968A>G (p.Lys990Glu)
n.383A>G
c.1022-1635A>G
c.*264A>G (n.*264A>G)
n.3907A>G
n.2508A>G
c.3019A>G (p.Lys1007Glu)
c.3067A>G (p.Lys1023Glu)
c.3127A>G (p.Lys1043Glu)
c.2677A>G (p.Lys893Glu)
c.979A>G (p.Lys327Glu)
c.877-1635A>G (n.877-1635A>G)
c.3028A>G (p.Lys1010Glu)
c.3061-1635A>G (n.3061-1635A>G)
c.2749A>G (p.Lys917Glu)
c.2731-1635A>G (n.2731-1635A>G)
c.1831A>G (p.Lys611Glu)
n.3382A>G
13g.51944189T>GCA388030090ATP7Bc.*894-1635A>C (n.*894-1635A>C)
c.*1907A>C (n.*1907A>C)
c.2542A>C (p.Lys848Gln)
c.3163A>C (p.Lys1055Gln)
c.2830A>C (p.Lys944Gln)
c.2911A>C (p.Lys971Gln)
c.2929A>C (p.Lys977Gln)
n.3302A>C
n.3526A>C
c.2098A>C (p.Lys700Gln)
c.1873A>C (p.Lys625Gln)
c.2968A>C (p.Lys990Gln)
n.383A>C
c.1022-1635A>C
c.*264A>C (n.*264A>C)
n.3907A>C
n.2508A>C
c.3019A>C (p.Lys1007Gln)
c.3067A>C (p.Lys1023Gln)
c.3127A>C (p.Lys1043Gln)
c.2677A>C (p.Lys893Gln)
c.979A>C (p.Lys327Gln)
c.877-1635A>C (n.877-1635A>C)
c.3028A>C (p.Lys1010Gln)
c.3061-1635A>C (n.3061-1635A>C)
c.2749A>C (p.Lys917Gln)
c.2731-1635A>C (n.2731-1635A>C)
c.1831A>C (p.Lys611Gln)
n.3382A>C
13g.51944189T=CA2091563914ATP7Bc.*894-1635A= (n.*894-1635A=)
c.*1907A= (n.*1907A=)
c.2542A= (p.Lys848=)
c.3163A= (p.Lys1055=)
c.2830A= (p.Lys944=)
c.2911A= (p.Lys971=)
c.2929A= (p.Lys977=)
n.3302A=
n.3526A=
c.2098A= (p.Lys700=)
c.1873A= (p.Lys625=)
c.2968A= (p.Lys990=)
n.383A=
c.1022-1635A=
c.*264A= (n.*264A=)
n.3907A=
n.2508A=
c.3019A= (p.Lys1007=)
c.3067A= (p.Lys1023=)
c.3127A= (p.Lys1043=)
c.2677A= (p.Lys893=)
c.979A= (p.Lys327=)
c.877-1635A= (n.877-1635A=)
c.3028A= (p.Lys1010=)
c.3061-1635A= (n.3061-1635A=)
c.2749A= (p.Lys917=)
c.2731-1635A= (n.2731-1635A=)
c.1831A= (p.Lys611=)
n.3382A=
13g.51944190C>ACA388030095ATP7Bc.*894-1636G>T (n.*894-1636G>T)
c.*1906G>T (n.*1906G>T)
c.2541G>T (p.Arg847Ser)
c.3162G>T (p.Arg1054Ser)
c.2829G>T (p.Arg943Ser)
c.2910G>T (p.Arg970Ser)
c.2928G>T (p.Arg976Ser)
n.3301G>T
n.3525G>T
c.2097G>T (p.Arg699Ser)
c.1872G>T (p.Arg624Ser)
c.2967G>T (p.Arg989Ser)
n.382G>T
c.1022-1636G>T
c.*263G>T (n.*263G>T)
n.3906G>T
n.2507G>T
c.3018G>T (p.Arg1006Ser)
c.3066G>T (p.Arg1022Ser)
c.3126G>T (p.Arg1042Ser)
c.2676G>T (p.Arg892Ser)
c.978G>T (p.Arg326Ser)
c.877-1636G>T (n.877-1636G>T)
c.3027G>T (p.Arg1009Ser)
c.3061-1636G>T (n.3061-1636G>T)
c.2748G>T (p.Arg916Ser)
c.2731-1636G>T (n.2731-1636G>T)
c.1830G>T (p.Arg610Ser)
n.3381G>T
13g.51944190C>GCA388030096ATP7Bc.*894-1636G>C (n.*894-1636G>C)
c.*1906G>C (n.*1906G>C)
c.2541G>C (p.Arg847Ser)
c.3162G>C (p.Arg1054Ser)
c.2829G>C (p.Arg943Ser)
c.2910G>C (p.Arg970Ser)
c.2928G>C (p.Arg976Ser)
n.3301G>C
n.3525G>C
c.2097G>C (p.Arg699Ser)
c.1872G>C (p.Arg624Ser)
c.2967G>C (p.Arg989Ser)
n.382G>C
c.1022-1636G>C
c.*263G>C (n.*263G>C)
n.3906G>C
n.2507G>C
c.3018G>C (p.Arg1006Ser)
c.3066G>C (p.Arg1022Ser)
c.3126G>C (p.Arg1042Ser)
c.2676G>C (p.Arg892Ser)
c.978G>C (p.Arg326Ser)
c.877-1636G>C (n.877-1636G>C)
c.3027G>C (p.Arg1009Ser)
c.3061-1636G>C (n.3061-1636G>C)
c.2748G>C (p.Arg916Ser)
c.2731-1636G>C (n.2731-1636G>C)
c.1830G>C (p.Arg610Ser)
n.3381G>C
13g.51944190C>TCA483894699ATP7Bc.*894-1636G>A (n.*894-1636G>A)
c.*1906G>A (n.*1906G>A)
c.2541G>A (p.Arg847=)
c.3162G>A (p.Arg1054=)
c.2829G>A (p.Arg943=)
c.2910G>A (p.Arg970=)
c.2928G>A (p.Arg976=)
n.3301G>A
n.3525G>A
c.2097G>A (p.Arg699=)
c.1872G>A (p.Arg624=)
c.2967G>A (p.Arg989=)
n.382G>A
c.1022-1636G>A
c.*263G>A (n.*263G>A)
n.3906G>A
n.2507G>A
c.3018G>A (p.Arg1006=)
c.3066G>A (p.Arg1022=)
c.3126G>A (p.Arg1042=)
c.2676G>A (p.Arg892=)
c.978G>A (p.Arg326=)
c.877-1636G>A (n.877-1636G>A)
c.3027G>A (p.Arg1009=)
c.3061-1636G>A (n.3061-1636G>A)
c.2748G>A (p.Arg916=)
c.2731-1636G>A (n.2731-1636G>A)
c.1830G>A (p.Arg610=)
n.3381G>A
 ClinVar
13g.51944191C>ACA388030098ATP7Bc.*894-1637G>T (n.*894-1637G>T)
c.*1905G>T (n.*1905G>T)
c.2540G>T (p.Arg847Met)
c.3161G>T (p.Arg1054Met)
c.2828G>T (p.Arg943Met)
c.2909G>T (p.Arg970Met)
c.2927G>T (p.Arg976Met)
n.3300G>T
n.3524G>T
c.2096G>T (p.Arg699Met)
c.1871G>T (p.Arg624Met)
c.2966G>T (p.Arg989Met)
n.381G>T
c.1022-1637G>T
c.*262G>T (n.*262G>T)
n.3905G>T
n.2506G>T
c.3017G>T (p.Arg1006Met)
c.3065G>T (p.Arg1022Met)
c.3125G>T (p.Arg1042Met)
c.2675G>T (p.Arg892Met)
c.977G>T (p.Arg326Met)
c.877-1637G>T (n.877-1637G>T)
c.3026G>T (p.Arg1009Met)
c.3061-1637G>T (n.3061-1637G>T)
c.2747G>T (p.Arg916Met)
c.2731-1637G>T (n.2731-1637G>T)
c.1829G>T (p.Arg610Met)
n.3380G>T
13g.51944191C=CA2091563918ATP7Bc.*894-1637G= (n.*894-1637G=)
c.*1905G= (n.*1905G=)
c.2540G= (p.Arg847=)
c.3161G= (p.Arg1054=)
c.2828G= (p.Arg943=)
c.2909G= (p.Arg970=)
c.2927G= (p.Arg976=)
n.3300G=
n.3524G=
c.2096G= (p.Arg699=)
c.1871G= (p.Arg624=)
c.2966G= (p.Arg989=)
n.381G=
c.1022-1637G=
c.*262G= (n.*262G=)
n.3905G=
n.2506G=
c.3017G= (p.Arg1006=)
c.3065G= (p.Arg1022=)
c.3125G= (p.Arg1042=)
c.2675G= (p.Arg892=)
c.977G= (p.Arg326=)
c.877-1637G= (n.877-1637G=)
c.3026G= (p.Arg1009=)
c.3061-1637G= (n.3061-1637G=)
c.2747G= (p.Arg916=)
c.2731-1637G= (n.2731-1637G=)
c.1829G= (p.Arg610=)
n.3380G=
13g.51944191C>GCA388030099ATP7Bc.*894-1637G>C (n.*894-1637G>C)
c.*1905G>C (n.*1905G>C)
c.2540G>C (p.Arg847Thr)
c.3161G>C (p.Arg1054Thr)
c.2828G>C (p.Arg943Thr)
c.2909G>C (p.Arg970Thr)
c.2927G>C (p.Arg976Thr)
n.3300G>C
n.3524G>C
c.2096G>C (p.Arg699Thr)
c.1871G>C (p.Arg624Thr)
c.2966G>C (p.Arg989Thr)
n.381G>C
c.1022-1637G>C
c.*262G>C (n.*262G>C)
n.3905G>C
n.2506G>C
c.3017G>C (p.Arg1006Thr)
c.3065G>C (p.Arg1022Thr)
c.3125G>C (p.Arg1042Thr)
c.2675G>C (p.Arg892Thr)
c.977G>C (p.Arg326Thr)
c.877-1637G>C (n.877-1637G>C)
c.3026G>C (p.Arg1009Thr)
c.3061-1637G>C (n.3061-1637G>C)
c.2747G>C (p.Arg916Thr)
c.2731-1637G>C (n.2731-1637G>C)
c.1829G>C (p.Arg610Thr)
n.3380G>C
13g.51944191C>TCA250080167ATP7Bc.*894-1637G>A (n.*894-1637G>A)
c.*1905G>A (n.*1905G>A)
c.2540G>A (p.Arg847Lys)
c.3161G>A (p.Arg1054Lys)
c.2828G>A (p.Arg943Lys)
c.2909G>A (p.Arg970Lys)
c.2927G>A (p.Arg976Lys)
n.3300G>A
n.3524G>A
c.2096G>A (p.Arg699Lys)
c.1871G>A (p.Arg624Lys)
c.2966G>A (p.Arg989Lys)
n.381G>A
c.1022-1637G>A
c.*262G>A (n.*262G>A)
n.3905G>A
n.2506G>A
c.3017G>A (p.Arg1006Lys)
c.3065G>A (p.Arg1022Lys)
c.3125G>A (p.Arg1042Lys)
c.2675G>A (p.Arg892Lys)
c.977G>A (p.Arg326Lys)
c.877-1637G>A (n.877-1637G>A)
c.3026G>A (p.Arg1009Lys)
c.3061-1637G>A (n.3061-1637G>A)
c.2747G>A (p.Arg916Lys)
c.2731-1637G>A (n.2731-1637G>A)
c.1829G>A (p.Arg610Lys)
n.3380G>A
 dbSNP gnomAD v4
13g.51944192T>ACA388030102ATP7Bc.*894-1638A>T (n.*894-1638A>T)
c.*1904A>T (n.*1904A>T)
c.2539A>T (p.Arg847Trp)
c.3160A>T (p.Arg1054Trp)
c.2827A>T (p.Arg943Trp)
c.2908A>T (p.Arg970Trp)
c.2926A>T (p.Arg976Trp)
n.3299A>T
n.3523A>T
c.2095A>T (p.Arg699Trp)
c.1870A>T (p.Arg624Trp)
c.2965A>T (p.Arg989Trp)
n.380A>T
c.1022-1638A>T
c.*261A>T (n.*261A>T)
n.3904A>T
n.2505A>T
c.3016A>T (p.Arg1006Trp)
n.506A>T
c.3064A>T (p.Arg1022Trp)
c.3124A>T (p.Arg1042Trp)
c.2674A>T (p.Arg892Trp)
c.976A>T (p.Arg326Trp)
c.877-1638A>T (n.877-1638A>T)
c.3025A>T (p.Arg1009Trp)
c.3061-1638A>T (n.3061-1638A>T)
c.2746A>T (p.Arg916Trp)
c.2731-1638A>T (n.2731-1638A>T)
c.1828A>T (p.Arg610Trp)
n.3379A>T
13g.51944192T>CCA6988792ATP7Bc.*894-1638A>G (n.*894-1638A>G)
c.*1904A>G (n.*1904A>G)
c.2539A>G (p.Arg847Gly)
c.3160A>G (p.Arg1054Gly)
c.2827A>G (p.Arg943Gly)
c.2908A>G (p.Arg970Gly)
c.2926A>G (p.Arg976Gly)
n.3299A>G
n.3523A>G
c.2095A>G (p.Arg699Gly)
c.1870A>G (p.Arg624Gly)
c.2965A>G (p.Arg989Gly)
n.380A>G
c.1022-1638A>G
c.*261A>G (n.*261A>G)
n.3904A>G
n.2505A>G
c.3016A>G (p.Arg1006Gly)
n.506A>G
c.3064A>G (p.Arg1022Gly)
c.3124A>G (p.Arg1042Gly)
c.2674A>G (p.Arg892Gly)
c.976A>G (p.Arg326Gly)
c.877-1638A>G (n.877-1638A>G)
c.3025A>G (p.Arg1009Gly)
c.3061-1638A>G (n.3061-1638A>G)
c.2746A>G (p.Arg916Gly)
c.2731-1638A>G (n.2731-1638A>G)
c.1828A>G (p.Arg610Gly)
n.3379A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944192T>GCA6988791ATP7Bc.*894-1638A>C (n.*894-1638A>C)
c.*1904A>C (n.*1904A>C)
c.2539A>C (p.Arg847=)
c.3160A>C (p.Arg1054=)
c.2827A>C (p.Arg943=)
c.2908A>C (p.Arg970=)
c.2926A>C (p.Arg976=)
n.3299A>C
n.3523A>C
c.2095A>C (p.Arg699=)
c.1870A>C (p.Arg624=)
c.2965A>C (p.Arg989=)
n.380A>C
c.1022-1638A>C
c.*261A>C (n.*261A>C)
n.3904A>C
n.2505A>C
c.3016A>C (p.Arg1006=)
n.506A>C
c.3064A>C (p.Arg1022=)
c.3124A>C (p.Arg1042=)
c.2674A>C (p.Arg892=)
c.976A>C (p.Arg326=)
c.877-1638A>C (n.877-1638A>C)
c.3025A>C (p.Arg1009=)
c.3061-1638A>C (n.3061-1638A>C)
c.2746A>C (p.Arg916=)
c.2731-1638A>C (n.2731-1638A>C)
c.1828A>C (p.Arg610=)
n.3379A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944192T=CA2091563924ATP7Bc.*894-1638A= (n.*894-1638A=)
c.*1904A= (n.*1904A=)
c.2539A= (p.Arg847=)
c.3160A= (p.Arg1054=)
c.2827A= (p.Arg943=)
c.2908A= (p.Arg970=)
c.2926A= (p.Arg976=)
n.3299A=
n.3523A=
c.2095A= (p.Arg699=)
c.1870A= (p.Arg624=)
c.2965A= (p.Arg989=)
n.380A=
c.1022-1638A=
c.*261A= (n.*261A=)
n.3904A=
n.2505A=
c.3016A= (p.Arg1006=)
n.506A=
c.3064A= (p.Arg1022=)
c.3124A= (p.Arg1042=)
c.2674A= (p.Arg892=)
c.976A= (p.Arg326=)
c.877-1638A= (n.877-1638A=)
c.3025A= (p.Arg1009=)
c.3061-1638A= (n.3061-1638A=)
c.2746A= (p.Arg916=)
c.2731-1638A= (n.2731-1638A=)
c.1828A= (p.Arg610=)
n.3379A=
13g.51944193G>ACA483894700ATP7Bc.*894-1639C>T (n.*894-1639C>T)
c.*1903C>T (n.*1903C>T)
c.2538C>T (p.Leu846=)
c.3159C>T (p.Leu1053=)
c.2826C>T (p.Leu942=)
c.2907C>T (p.Leu969=)
c.2925C>T (p.Leu975=)
n.3298C>T
n.3522C>T
c.2094C>T (p.Leu698=)
c.1869C>T (p.Leu623=)
c.2964C>T (p.Leu988=)
n.379C>T
c.1022-1639C>T
c.*260C>T (n.*260C>T)
n.3903C>T
n.2504C>T
c.3015C>T (p.Leu1005=)
n.505C>T
c.3063C>T (p.Leu1021=)
c.3123C>T (p.Leu1041=)
c.2673C>T (p.Leu891=)
c.975C>T (p.Leu325=)
c.877-1639C>T (n.877-1639C>T)
c.3024C>T (p.Leu1008=)
c.3061-1639C>T (n.3061-1639C>T)
c.2745C>T (p.Leu915=)
c.2731-1639C>T (n.2731-1639C>T)
c.1827C>T (p.Leu609=)
n.3378C>T
13g.51944193G>CCA483894701ATP7Bc.*894-1639C>G (n.*894-1639C>G)
c.*1903C>G (n.*1903C>G)
c.2538C>G (p.Leu846=)
c.3159C>G (p.Leu1053=)
c.2826C>G (p.Leu942=)
c.2907C>G (p.Leu969=)
c.2925C>G (p.Leu975=)
n.3298C>G
n.3522C>G
c.2094C>G (p.Leu698=)
c.1869C>G (p.Leu623=)
c.2964C>G (p.Leu988=)
n.379C>G
c.1022-1639C>G
c.*260C>G (n.*260C>G)
n.3903C>G
n.2504C>G
c.3015C>G (p.Leu1005=)
n.505C>G
c.3063C>G (p.Leu1021=)
c.3123C>G (p.Leu1041=)
c.2673C>G (p.Leu891=)
c.975C>G (p.Leu325=)
c.877-1639C>G (n.877-1639C>G)
c.3024C>G (p.Leu1008=)
c.3061-1639C>G (n.3061-1639C>G)
c.2745C>G (p.Leu915=)
c.2731-1639C>G (n.2731-1639C>G)
c.1827C>G (p.Leu609=)
n.3378C>G
 gnomAD v4
13g.51944193G>TCA483894702ATP7Bc.*894-1639C>A (n.*894-1639C>A)
c.*1903C>A (n.*1903C>A)
c.2538C>A (p.Leu846=)
c.3159C>A (p.Leu1053=)
c.2826C>A (p.Leu942=)
c.2907C>A (p.Leu969=)
c.2925C>A (p.Leu975=)
n.3298C>A
n.3522C>A
c.2094C>A (p.Leu698=)
c.1869C>A (p.Leu623=)
c.2964C>A (p.Leu988=)
n.379C>A
c.1022-1639C>A
c.*260C>A (n.*260C>A)
n.3903C>A
n.2504C>A
c.3015C>A (p.Leu1005=)
n.505C>A
c.3063C>A (p.Leu1021=)
c.3123C>A (p.Leu1041=)
c.2673C>A (p.Leu891=)
c.975C>A (p.Leu325=)
c.877-1639C>A (n.877-1639C>A)
c.3024C>A (p.Leu1008=)
c.3061-1639C>A (n.3061-1639C>A)
c.2745C>A (p.Leu915=)
c.2731-1639C>A (n.2731-1639C>A)
c.1827C>A (p.Leu609=)
n.3378C>A
13g.51944194A=CA2091563932ATP7Bc.*894-1640T= (n.*894-1640T=)
c.*1902T= (n.*1902T=)
c.2537T= (p.Leu846=)
c.3158T= (p.Leu1053=)
c.2825T= (p.Leu942=)
c.2906T= (p.Leu969=)
c.2924T= (p.Leu975=)
n.3297T=
n.3521T=
c.2093T= (p.Leu698=)
c.1868T= (p.Leu623=)
c.2963T= (p.Leu988=)
n.378T=
c.1022-1640T=
c.*259T= (n.*259T=)
n.3902T=
n.2503T=
c.3014T= (p.Leu1005=)
n.504T=
c.3062T= (p.Leu1021=)
c.3122T= (p.Leu1041=)
c.2672T= (p.Leu891=)
c.974T= (p.Leu325=)
c.877-1640T= (n.877-1640T=)
c.3023T= (p.Leu1008=)
c.3061-1640T= (n.3061-1640T=)
c.2744T= (p.Leu915=)
c.2731-1640T= (n.2731-1640T=)
c.1826T= (p.Leu609=)
n.3377T=
13g.51944194A>CCA388030103ATP7Bc.*894-1640T>G (n.*894-1640T>G)
c.*1902T>G (n.*1902T>G)
c.2537T>G (p.Leu846Arg)
c.3158T>G (p.Leu1053Arg)
c.2825T>G (p.Leu942Arg)
c.2906T>G (p.Leu969Arg)
c.2924T>G (p.Leu975Arg)
n.3297T>G
n.3521T>G
c.2093T>G (p.Leu698Arg)
c.1868T>G (p.Leu623Arg)
c.2963T>G (p.Leu988Arg)
n.378T>G
c.1022-1640T>G
c.*259T>G (n.*259T>G)
n.3902T>G
n.2503T>G
c.3014T>G (p.Leu1005Arg)
n.504T>G
c.3062T>G (p.Leu1021Arg)
c.3122T>G (p.Leu1041Arg)
c.2672T>G (p.Leu891Arg)
c.974T>G (p.Leu325Arg)
c.877-1640T>G (n.877-1640T>G)
c.3023T>G (p.Leu1008Arg)
c.3061-1640T>G (n.3061-1640T>G)
c.2744T>G (p.Leu915Arg)
c.2731-1640T>G (n.2731-1640T>G)
c.1826T>G (p.Leu609Arg)
n.3377T>G
13g.51944194A>GCA388030104ATP7Bc.*894-1640T>C (n.*894-1640T>C)
c.*1902T>C (n.*1902T>C)
c.2537T>C (p.Leu846Pro)
c.3158T>C (p.Leu1053Pro)
c.2825T>C (p.Leu942Pro)
c.2906T>C (p.Leu969Pro)
c.2924T>C (p.Leu975Pro)
n.3297T>C
n.3521T>C
c.2093T>C (p.Leu698Pro)
c.1868T>C (p.Leu623Pro)
c.2963T>C (p.Leu988Pro)
n.378T>C
c.1022-1640T>C
c.*259T>C (n.*259T>C)
n.3902T>C
n.2503T>C
c.3014T>C (p.Leu1005Pro)
n.504T>C
c.3062T>C (p.Leu1021Pro)
c.3122T>C (p.Leu1041Pro)
c.2672T>C (p.Leu891Pro)
c.974T>C (p.Leu325Pro)
c.877-1640T>C (n.877-1640T>C)
c.3023T>C (p.Leu1008Pro)
c.3061-1640T>C (n.3061-1640T>C)
c.2744T>C (p.Leu915Pro)
c.2731-1640T>C (n.2731-1640T>C)
c.1826T>C (p.Leu609Pro)
n.3377T>C
13g.51944194A>TCA388030106ATP7Bc.*894-1640T>A (n.*894-1640T>A)
c.*1902T>A (n.*1902T>A)
c.2537T>A (p.Leu846His)
c.3158T>A (p.Leu1053His)
c.2825T>A (p.Leu942His)
c.2906T>A (p.Leu969His)
c.2924T>A (p.Leu975His)
n.3297T>A
n.3521T>A
c.2093T>A (p.Leu698His)
c.1868T>A (p.Leu623His)
c.2963T>A (p.Leu988His)
n.378T>A
c.1022-1640T>A
c.*259T>A (n.*259T>A)
n.3902T>A
n.2503T>A
c.3014T>A (p.Leu1005His)
n.504T>A
c.3062T>A (p.Leu1021His)
c.3122T>A (p.Leu1041His)
c.2672T>A (p.Leu891His)
c.974T>A (p.Leu325His)
c.877-1640T>A (n.877-1640T>A)
c.3023T>A (p.Leu1008His)
c.3061-1640T>A (n.3061-1640T>A)
c.2744T>A (p.Leu915His)
c.2731-1640T>A (n.2731-1640T>A)
c.1826T>A (p.Leu609His)
n.3377T>A
13g.51944194dupCA912974797ATP7Bc.*894-1640dup (n.*894-1640dup)
c.*1902dup (n.*1902dup)
c.2537dup (p.Arg847GlnfsTer15)
c.3158dup (p.Arg1054GlnfsTer15)
c.2825dup (p.Arg943GlnfsTer15)
c.2906dup (p.Arg970GlnfsTer15)
c.2924dup (p.Arg976GlnfsTer15)
n.3297dup
n.3521dup
c.2093dup (p.Arg699GlnfsTer15)
c.1868dup (p.Arg624GlnfsTer15)
c.2963dup (p.Arg989GlnfsTer15)
n.378dup
c.1022-1640dup
c.*259dup (n.*259dup)
n.3902dup
n.2503dup
c.3014dup (p.Arg1006GlnfsTer15)
n.504dup
c.3062dup (p.Arg1022GlnfsTer15)
c.3122dup (p.Arg1042GlnfsTer15)
c.2672dup (p.Arg892GlnfsTer15)
c.974dup (p.Arg326GlnfsTer15)
c.877-1640dup (n.877-1640dup)
c.3023dup (p.Arg1009GlnfsTer15)
c.3061-1640dup (n.3061-1640dup)
c.2744dup (p.Arg916GlnfsTer15)
c.2731-1640dup (n.2731-1640dup)
c.1826dup (p.Arg610GlnfsTer15)
n.3377dup
13g.51944195G>ACA388030108ATP7Bc.*894-1641C>T (n.*894-1641C>T)
c.*1901C>T (n.*1901C>T)
c.2536C>T (p.Leu846Phe)
c.3157C>T (p.Leu1053Phe)
c.2824C>T (p.Leu942Phe)
c.2905C>T (p.Leu969Phe)
c.2923C>T (p.Leu975Phe)
n.3296C>T
n.3520C>T
c.2092C>T (p.Leu698Phe)
c.1867C>T (p.Leu623Phe)
c.2962C>T (p.Leu988Phe)
n.377C>T
c.1022-1641C>T
c.*258C>T (n.*258C>T)
n.3901C>T
n.2502C>T
c.3013C>T (p.Leu1005Phe)
n.503C>T
c.3061C>T (p.Leu1021Phe)
c.3121C>T (p.Leu1041Phe)
c.2671C>T (p.Leu891Phe)
c.973C>T (p.Leu325Phe)
c.877-1641C>T (n.877-1641C>T)
c.3022C>T (p.Leu1008Phe)
c.3061-1641C>T (n.3061-1641C>T)
c.2743C>T (p.Leu915Phe)
c.2731-1641C>T (n.2731-1641C>T)
c.1825C>T (p.Leu609Phe)
n.3376C>T
 dbSNP gnomAD v4
13g.51944195G>CCA388030109ATP7Bc.*894-1641C>G (n.*894-1641C>G)
c.*1901C>G (n.*1901C>G)
c.2536C>G (p.Leu846Val)
c.3157C>G (p.Leu1053Val)
c.2824C>G (p.Leu942Val)
c.2905C>G (p.Leu969Val)
c.2923C>G (p.Leu975Val)
n.3296C>G
n.3520C>G
c.2092C>G (p.Leu698Val)
c.1867C>G (p.Leu623Val)
c.2962C>G (p.Leu988Val)
n.377C>G
c.1022-1641C>G
c.*258C>G (n.*258C>G)
n.3901C>G
n.2502C>G
c.3013C>G (p.Leu1005Val)
n.503C>G
c.3061C>G (p.Leu1021Val)
c.3121C>G (p.Leu1041Val)
c.2671C>G (p.Leu891Val)
c.973C>G (p.Leu325Val)
c.877-1641C>G (n.877-1641C>G)
c.3022C>G (p.Leu1008Val)
c.3061-1641C>G (n.3061-1641C>G)
c.2743C>G (p.Leu915Val)
c.2731-1641C>G (n.2731-1641C>G)
c.1825C>G (p.Leu609Val)
n.3376C>G
13g.51944195G=CA2091563937ATP7Bc.*894-1641C= (n.*894-1641C=)
c.*1901C= (n.*1901C=)
c.2536C= (p.Leu846=)
c.3157C= (p.Leu1053=)
c.2824C= (p.Leu942=)
c.2905C= (p.Leu969=)
c.2923C= (p.Leu975=)
n.3296C=
n.3520C=
c.2092C= (p.Leu698=)
c.1867C= (p.Leu623=)
c.2962C= (p.Leu988=)
n.377C=
c.1022-1641C=
c.*258C= (n.*258C=)
n.3901C=
n.2502C=
c.3013C= (p.Leu1005=)
n.503C=
c.3061C= (p.Leu1021=)
c.3121C= (p.Leu1041=)
c.2671C= (p.Leu891=)
c.973C= (p.Leu325=)
c.877-1641C= (n.877-1641C=)
c.3022C= (p.Leu1008=)
c.3061-1641C= (n.3061-1641C=)
c.2743C= (p.Leu915=)
c.2731-1641C= (n.2731-1641C=)
c.1825C= (p.Leu609=)
n.3376C=
13g.51944195G>TCA388030110ATP7Bc.*894-1641C>A (n.*894-1641C>A)
c.*1901C>A (n.*1901C>A)
c.2536C>A (p.Leu846Ile)
c.3157C>A (p.Leu1053Ile)
c.2824C>A (p.Leu942Ile)
c.2905C>A (p.Leu969Ile)
c.2923C>A (p.Leu975Ile)
n.3296C>A
n.3520C>A
c.2092C>A (p.Leu698Ile)
c.1867C>A (p.Leu623Ile)
c.2962C>A (p.Leu988Ile)
n.377C>A
c.1022-1641C>A
c.*258C>A (n.*258C>A)
n.3901C>A
n.2502C>A
c.3013C>A (p.Leu1005Ile)
n.503C>A
c.3061C>A (p.Leu1021Ile)
c.3121C>A (p.Leu1041Ile)
c.2671C>A (p.Leu891Ile)
c.973C>A (p.Leu325Ile)
c.877-1641C>A (n.877-1641C>A)
c.3022C>A (p.Leu1008Ile)
c.3061-1641C>A (n.3061-1641C>A)
c.2743C>A (p.Leu915Ile)
c.2731-1641C>A (n.2731-1641C>A)
c.1825C>A (p.Leu609Ile)
n.3376C>A
13g.51944198dupCA658823705ATP7Bc.*894-1641dup (n.*894-1641dup)
c.*1901dup (n.*1901dup)
c.2536dup (p.Leu846ProfsTer16)
c.3157dup (p.Leu1053ProfsTer16)
c.2824dup (p.Leu942ProfsTer16)
c.2905dup (p.Leu969ProfsTer16)
c.2923dup (p.Leu975ProfsTer16)
n.3296dup
n.3520dup
c.2092dup (p.Leu698ProfsTer16)
c.1867dup (p.Leu623ProfsTer16)
c.2962dup (p.Leu988ProfsTer16)
n.377dup
c.1022-1641dup
c.*258dup (n.*258dup)
n.3901dup
n.2502dup
c.3013dup (p.Leu1005ProfsTer16)
n.503dup
c.3061dup (p.Leu1021ProfsTer16)
c.3121dup (p.Leu1041ProfsTer16)
c.2671dup (p.Leu891ProfsTer16)
c.973dup (p.Leu325ProfsTer16)
c.877-1641dup (n.877-1641dup)
c.3022dup (p.Leu1008ProfsTer16)
c.3061-1641dup (n.3061-1641dup)
c.2743dup (p.Leu915ProfsTer16)
c.2731-1641dup (n.2731-1641dup)
c.1825dup (p.Leu609ProfsTer16)
n.3376dup
 ClinVar dbSNP
13g.51944196G>ACA483894703ATP7Bc.*894-1642C>T (n.*894-1642C>T)
c.*1900C>T (n.*1900C>T)
c.2535C>T (p.Pro845=)
c.3156C>T (p.Pro1052=)
c.2823C>T (p.Pro941=)
c.2904C>T (p.Pro968=)
c.2922C>T (p.Pro974=)
n.3295C>T
n.3519C>T
c.2091C>T (p.Pro697=)
c.1866C>T (p.Pro622=)
c.2961C>T (p.Pro987=)
n.376C>T
c.1022-1642C>T
c.*257C>T (n.*257C>T)
n.3900C>T
n.2501C>T
c.3012C>T (p.Pro1004=)
n.502C>T
c.3060C>T (p.Pro1020=)
c.3120C>T (p.Pro1040=)
c.2670C>T (p.Pro890=)
c.972C>T (p.Pro324=)
c.877-1642C>T (n.877-1642C>T)
c.3021C>T (p.Pro1007=)
c.3061-1642C>T (n.3061-1642C>T)
c.2742C>T (p.Pro914=)
c.2731-1642C>T (n.2731-1642C>T)
c.1824C>T (p.Pro608=)
n.3375C>T
 gnomAD v4
13g.51944196G>CCA483894704ATP7Bc.*894-1642C>G (n.*894-1642C>G)
c.*1900C>G (n.*1900C>G)
c.2535C>G (p.Pro845=)
c.3156C>G (p.Pro1052=)
c.2823C>G (p.Pro941=)
c.2904C>G (p.Pro968=)
c.2922C>G (p.Pro974=)
n.3295C>G
n.3519C>G
c.2091C>G (p.Pro697=)
c.1866C>G (p.Pro622=)
c.2961C>G (p.Pro987=)
n.376C>G
c.1022-1642C>G
c.*257C>G (n.*257C>G)
n.3900C>G
n.2501C>G
c.3012C>G (p.Pro1004=)
n.502C>G
c.3060C>G (p.Pro1020=)
c.3120C>G (p.Pro1040=)
c.2670C>G (p.Pro890=)
c.972C>G (p.Pro324=)
c.877-1642C>G (n.877-1642C>G)
c.3021C>G (p.Pro1007=)
c.3061-1642C>G (n.3061-1642C>G)
c.2742C>G (p.Pro914=)
c.2731-1642C>G (n.2731-1642C>G)
c.1824C>G (p.Pro608=)
n.3375C>G
13g.51944196G>TCA483894705ATP7Bc.*894-1642C>A (n.*894-1642C>A)
c.*1900C>A (n.*1900C>A)
c.2535C>A (p.Pro845=)
c.3156C>A (p.Pro1052=)
c.2823C>A (p.Pro941=)
c.2904C>A (p.Pro968=)
c.2922C>A (p.Pro974=)
n.3295C>A
n.3519C>A
c.2091C>A (p.Pro697=)
c.1866C>A (p.Pro622=)
c.2961C>A (p.Pro987=)
n.376C>A
c.1022-1642C>A
c.*257C>A (n.*257C>A)
n.3900C>A
n.2501C>A
c.3012C>A (p.Pro1004=)
n.502C>A
c.3060C>A (p.Pro1020=)
c.3120C>A (p.Pro1040=)
c.2670C>A (p.Pro890=)
c.972C>A (p.Pro324=)
c.877-1642C>A (n.877-1642C>A)
c.3021C>A (p.Pro1007=)
c.3061-1642C>A (n.3061-1642C>A)
c.2742C>A (p.Pro914=)
c.2731-1642C>A (n.2731-1642C>A)
c.1824C>A (p.Pro608=)
n.3375C>A
13g.51944197G>ACA6988793ATP7Bc.*894-1643C>T (n.*894-1643C>T)
c.*1899C>T (n.*1899C>T)
c.2534C>T (p.Pro845Leu)
c.3155C>T (p.Pro1052Leu)
c.2822C>T (p.Pro941Leu)
c.2903C>T (p.Pro968Leu)
c.2921C>T (p.Pro974Leu)
n.3294C>T
n.3518C>T
c.2090C>T (p.Pro697Leu)
c.1865C>T (p.Pro622Leu)
c.2960C>T (p.Pro987Leu)
n.375C>T
c.1022-1643C>T
c.*256C>T (n.*256C>T)
n.3899C>T
n.2500C>T
c.3011C>T (p.Pro1004Leu)
n.501C>T
c.3059C>T (p.Pro1020Leu)
c.3119C>T (p.Pro1040Leu)
c.2669C>T (p.Pro890Leu)
c.971C>T (p.Pro324Leu)
c.877-1643C>T (n.877-1643C>T)
c.3020C>T (p.Pro1007Leu)
c.3061-1643C>T (n.3061-1643C>T)
c.2741C>T (p.Pro914Leu)
c.2731-1643C>T (n.2731-1643C>T)
c.1823C>T (p.Pro608Leu)
n.3374C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
13g.51944197G>CCA388030115ATP7Bc.*894-1643C>G (n.*894-1643C>G)
c.*1899C>G (n.*1899C>G)
c.2534C>G (p.Pro845Arg)
c.3155C>G (p.Pro1052Arg)
c.2822C>G (p.Pro941Arg)
c.2903C>G (p.Pro968Arg)
c.2921C>G (p.Pro974Arg)
n.3294C>G
n.3518C>G
c.2090C>G (p.Pro697Arg)
c.1865C>G (p.Pro622Arg)
c.2960C>G (p.Pro987Arg)
n.375C>G
c.1022-1643C>G
c.*256C>G (n.*256C>G)
n.3899C>G
n.2500C>G
c.3011C>G (p.Pro1004Arg)
n.501C>G
c.3059C>G (p.Pro1020Arg)
c.3119C>G (p.Pro1040Arg)
c.2669C>G (p.Pro890Arg)
c.971C>G (p.Pro324Arg)
c.877-1643C>G (n.877-1643C>G)
c.3020C>G (p.Pro1007Arg)
c.3061-1643C>G (n.3061-1643C>G)
c.2741C>G (p.Pro914Arg)
c.2731-1643C>G (n.2731-1643C>G)
c.1823C>G (p.Pro608Arg)
n.3374C>G
13g.51944197G=CA2091563942ATP7Bc.*894-1643C= (n.*894-1643C=)
c.*1899C= (n.*1899C=)
c.2534C= (p.Pro845=)
c.3155C= (p.Pro1052=)
c.2822C= (p.Pro941=)
c.2903C= (p.Pro968=)
c.2921C= (p.Pro974=)
n.3294C=
n.3518C=
c.2090C= (p.Pro697=)
c.1865C= (p.Pro622=)
c.2960C= (p.Pro987=)
n.375C=
c.1022-1643C=
c.*256C= (n.*256C=)
n.3899C=
n.2500C=
c.3011C= (p.Pro1004=)
n.501C=
c.3059C= (p.Pro1020=)
c.3119C= (p.Pro1040=)
c.2669C= (p.Pro890=)
c.971C= (p.Pro324=)
c.877-1643C= (n.877-1643C=)
c.3020C= (p.Pro1007=)
c.3061-1643C= (n.3061-1643C=)
c.2741C= (p.Pro914=)
c.2731-1643C= (n.2731-1643C=)
c.1823C= (p.Pro608=)
n.3374C=
13g.51944197G>TCA388030114ATP7Bc.*894-1643C>A (n.*894-1643C>A)
c.*1899C>A (n.*1899C>A)
c.2534C>A (p.Pro845His)
c.3155C>A (p.Pro1052His)
c.2822C>A (p.Pro941His)
c.2903C>A (p.Pro968His)
c.2921C>A (p.Pro974His)
n.3294C>A
n.3518C>A
c.2090C>A (p.Pro697His)
c.1865C>A (p.Pro622His)
c.2960C>A (p.Pro987His)
n.375C>A
c.1022-1643C>A
c.*256C>A (n.*256C>A)
n.3899C>A
n.2500C>A
c.3011C>A (p.Pro1004His)
n.501C>A
c.3059C>A (p.Pro1020His)
c.3119C>A (p.Pro1040His)
c.2669C>A (p.Pro890His)
c.971C>A (p.Pro324His)
c.877-1643C>A (n.877-1643C>A)
c.3020C>A (p.Pro1007His)
c.3061-1643C>A (n.3061-1643C>A)
c.2741C>A (p.Pro914His)
c.2731-1643C>A (n.2731-1643C>A)
c.1823C>A (p.Pro608His)
n.3374C>A
13g.51944198G>ACA388030124ATP7Bc.*894-1644C>T (n.*894-1644C>T)
c.*1898C>T (n.*1898C>T)
c.2533C>T (p.Pro845Ser)
c.3154C>T (p.Pro1052Ser)
c.2821C>T (p.Pro941Ser)
c.2902C>T (p.Pro968Ser)
c.2920C>T (p.Pro974Ser)
n.3293C>T
n.3517C>T
c.2089C>T (p.Pro697Ser)
c.1864C>T (p.Pro622Ser)
c.2959C>T (p.Pro987Ser)
n.374C>T
c.1022-1644C>T
c.*255C>T (n.*255C>T)
n.3898C>T
n.2499C>T
c.3010C>T (p.Pro1004Ser)
n.500C>T
c.3058C>T (p.Pro1020Ser)
c.3118C>T (p.Pro1040Ser)
c.2668C>T (p.Pro890Ser)
c.970C>T (p.Pro324Ser)
c.877-1644C>T (n.877-1644C>T)
c.3019C>T (p.Pro1007Ser)
c.3061-1644C>T (n.3061-1644C>T)
c.2740C>T (p.Pro914Ser)
c.2731-1644C>T (n.2731-1644C>T)
c.1822C>T (p.Pro608Ser)
n.3373C>T
13g.51944198G>CCA388030126ATP7Bc.*894-1644C>G (n.*894-1644C>G)
c.*1898C>G (n.*1898C>G)
c.2533C>G (p.Pro845Ala)
c.3154C>G (p.Pro1052Ala)
c.2821C>G (p.Pro941Ala)
c.2902C>G (p.Pro968Ala)
c.2920C>G (p.Pro974Ala)
n.3293C>G
n.3517C>G
c.2089C>G (p.Pro697Ala)
c.1864C>G (p.Pro622Ala)
c.2959C>G (p.Pro987Ala)
n.374C>G
c.1022-1644C>G
c.*255C>G (n.*255C>G)
n.3898C>G
n.2499C>G
c.3010C>G (p.Pro1004Ala)
n.500C>G
c.3058C>G (p.Pro1020Ala)
c.3118C>G (p.Pro1040Ala)
c.2668C>G (p.Pro890Ala)
c.970C>G (p.Pro324Ala)
c.877-1644C>G (n.877-1644C>G)
c.3019C>G (p.Pro1007Ala)
c.3061-1644C>G (n.3061-1644C>G)
c.2740C>G (p.Pro914Ala)
c.2731-1644C>G (n.2731-1644C>G)
c.1822C>G (p.Pro608Ala)
n.3373C>G
13g.51944198G>TCA388030128ATP7Bc.*894-1644C>A (n.*894-1644C>A)
c.*1898C>A (n.*1898C>A)
c.2533C>A (p.Pro845Thr)
c.3154C>A (p.Pro1052Thr)
c.2821C>A (p.Pro941Thr)
c.2902C>A (p.Pro968Thr)
c.2920C>A (p.Pro974Thr)
n.3293C>A
n.3517C>A
c.2089C>A (p.Pro697Thr)
c.1864C>A (p.Pro622Thr)
c.2959C>A (p.Pro987Thr)
n.374C>A
c.1022-1644C>A
c.*255C>A (n.*255C>A)
n.3898C>A
n.2499C>A
c.3010C>A (p.Pro1004Thr)
n.500C>A
c.3058C>A (p.Pro1020Thr)
c.3118C>A (p.Pro1040Thr)
c.2668C>A (p.Pro890Thr)
c.970C>A (p.Pro324Thr)
c.877-1644C>A (n.877-1644C>A)
c.3019C>A (p.Pro1007Thr)
c.3061-1644C>A (n.3061-1644C>A)
c.2740C>A (p.Pro914Thr)
c.2731-1644C>A (n.2731-1644C>A)
c.1822C>A (p.Pro608Thr)
n.3373C>A
13g.51944199C>ACA483894706ATP7Bc.*894-1645G>T (n.*894-1645G>T)
c.*1897G>T (n.*1897G>T)
c.2532G>T (p.Leu844=)
c.3153G>T (p.Leu1051=)
c.2820G>T (p.Leu940=)
c.2901G>T (p.Leu967=)
c.2919G>T (p.Leu973=)
n.3292G>T
n.3516G>T
c.2088G>T (p.Leu696=)
c.1863G>T (p.Leu621=)
c.2958G>T (p.Leu986=)
n.373G>T
c.1022-1645G>T
c.*254G>T (n.*254G>T)
n.3897G>T
n.2498G>T
c.3009G>T (p.Leu1003=)
n.499G>T
c.3057G>T (p.Leu1019=)
c.3117G>T (p.Leu1039=)
c.2667G>T (p.Leu889=)
c.969G>T (p.Leu323=)
c.877-1645G>T (n.877-1645G>T)
c.3018G>T (p.Leu1006=)
c.3061-1645G>T (n.3061-1645G>T)
c.2739G>T (p.Leu913=)
c.2731-1645G>T (n.2731-1645G>T)
c.1821G>T (p.Leu607=)
n.3372G>T
13g.51944199C=CA2091563949ATP7Bc.*894-1645G= (n.*894-1645G=)
c.*1897G= (n.*1897G=)
c.2532G= (p.Leu844=)
c.3153G= (p.Leu1051=)
c.2820G= (p.Leu940=)
c.2901G= (p.Leu967=)
c.2919G= (p.Leu973=)
n.3292G=
n.3516G=
c.2088G= (p.Leu696=)
c.1863G= (p.Leu621=)
c.2958G= (p.Leu986=)
n.373G=
c.1022-1645G=
c.*254G= (n.*254G=)
n.3897G=
n.2498G=
c.3009G= (p.Leu1003=)
n.499G=
c.3057G= (p.Leu1019=)
c.3117G= (p.Leu1039=)
c.2667G= (p.Leu889=)
c.969G= (p.Leu323=)
c.877-1645G= (n.877-1645G=)
c.3018G= (p.Leu1006=)
c.3061-1645G= (n.3061-1645G=)
c.2739G= (p.Leu913=)
c.2731-1645G= (n.2731-1645G=)
c.1821G= (p.Leu607=)
n.3372G=
13g.51944199C>GCA483894707ATP7Bc.*894-1645G>C (n.*894-1645G>C)
c.*1897G>C (n.*1897G>C)
c.2532G>C (p.Leu844=)
c.3153G>C (p.Leu1051=)
c.2820G>C (p.Leu940=)
c.2901G>C (p.Leu967=)
c.2919G>C (p.Leu973=)
n.3292G>C
n.3516G>C
c.2088G>C (p.Leu696=)
c.1863G>C (p.Leu621=)
c.2958G>C (p.Leu986=)
n.373G>C
c.1022-1645G>C
c.*254G>C (n.*254G>C)
n.3897G>C
n.2498G>C
c.3009G>C (p.Leu1003=)
n.499G>C
c.3057G>C (p.Leu1019=)
c.3117G>C (p.Leu1039=)
c.2667G>C (p.Leu889=)
c.969G>C (p.Leu323=)
c.877-1645G>C (n.877-1645G>C)
c.3018G>C (p.Leu1006=)
c.3061-1645G>C (n.3061-1645G>C)
c.2739G>C (p.Leu913=)
c.2731-1645G>C (n.2731-1645G>C)
c.1821G>C (p.Leu607=)
n.3372G>C
13g.51944199C>TCA483894708ATP7Bc.*894-1645G>A (n.*894-1645G>A)
c.*1897G>A (n.*1897G>A)
c.2532G>A (p.Leu844=)
c.3153G>A (p.Leu1051=)
c.2820G>A (p.Leu940=)
c.2901G>A (p.Leu967=)
c.2919G>A (p.Leu973=)
n.3292G>A
n.3516G>A
c.2088G>A (p.Leu696=)
c.1863G>A (p.Leu621=)
c.2958G>A (p.Leu986=)
n.373G>A
c.1022-1645G>A
c.*254G>A (n.*254G>A)
n.3897G>A
n.2498G>A
c.3009G>A (p.Leu1003=)
n.499G>A
c.3057G>A (p.Leu1019=)
c.3117G>A (p.Leu1039=)
c.2667G>A (p.Leu889=)
c.969G>A (p.Leu323=)
c.877-1645G>A (n.877-1645G>A)
c.3018G>A (p.Leu1006=)
c.3061-1645G>A (n.3061-1645G>A)
c.2739G>A (p.Leu913=)
c.2731-1645G>A (n.2731-1645G>A)
c.1821G>A (p.Leu607=)
n.3372G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51944200A=CA2091563951ATP7Bc.*894-1646T= (n.*894-1646T=)
c.*1896T= (n.*1896T=)
c.2531T= (p.Leu844=)
c.3152T= (p.Leu1051=)
c.2819T= (p.Leu940=)
c.2900T= (p.Leu967=)
c.2918T= (p.Leu973=)
n.3291T=
n.3515T=
c.2087T= (p.Leu696=)
c.1862T= (p.Leu621=)
c.2957T= (p.Leu986=)
n.372T=
c.1022-1646T=
c.*253T= (n.*253T=)
n.3896T=
n.2497T=
c.3008T= (p.Leu1003=)
n.498T=
c.3056T= (p.Leu1019=)
c.3116T= (p.Leu1039=)
c.2666T= (p.Leu889=)
c.968T= (p.Leu323=)
c.877-1646T= (n.877-1646T=)
c.3017T= (p.Leu1006=)
c.3061-1646T= (n.3061-1646T=)
c.2738T= (p.Leu913=)
c.2731-1646T= (n.2731-1646T=)
c.1820T= (p.Leu607=)
n.3371T=
13g.51944200A>CCA250080182ATP7Bc.*894-1646T>G (n.*894-1646T>G)
c.*1896T>G (n.*1896T>G)
c.2531T>G (p.Leu844Arg)
c.3152T>G (p.Leu1051Arg)
c.2819T>G (p.Leu940Arg)
c.2900T>G (p.Leu967Arg)
c.2918T>G (p.Leu973Arg)
n.3291T>G
n.3515T>G
c.2087T>G (p.Leu696Arg)
c.1862T>G (p.Leu621Arg)
c.2957T>G (p.Leu986Arg)
n.372T>G
c.1022-1646T>G
c.*253T>G (n.*253T>G)
n.3896T>G
n.2497T>G
c.3008T>G (p.Leu1003Arg)
n.498T>G
c.3056T>G (p.Leu1019Arg)
c.3116T>G (p.Leu1039Arg)
c.2666T>G (p.Leu889Arg)
c.968T>G (p.Leu323Arg)
c.877-1646T>G (n.877-1646T>G)
c.3017T>G (p.Leu1006Arg)
c.3061-1646T>G (n.3061-1646T>G)
c.2738T>G (p.Leu913Arg)
c.2731-1646T>G (n.2731-1646T>G)
c.1820T>G (p.Leu607Arg)
n.3371T>G
 dbSNP gnomAD v3 gnomAD v4
13g.51944200A>GCA388030130ATP7Bc.*894-1646T>C (n.*894-1646T>C)
c.*1896T>C (n.*1896T>C)
c.2531T>C (p.Leu844Pro)
c.3152T>C (p.Leu1051Pro)
c.2819T>C (p.Leu940Pro)
c.2900T>C (p.Leu967Pro)
c.2918T>C (p.Leu973Pro)
n.3291T>C
n.3515T>C
c.2087T>C (p.Leu696Pro)
c.1862T>C (p.Leu621Pro)
c.2957T>C (p.Leu986Pro)
n.372T>C
c.1022-1646T>C
c.*253T>C (n.*253T>C)
n.3896T>C
n.2497T>C
c.3008T>C (p.Leu1003Pro)
n.498T>C
c.3056T>C (p.Leu1019Pro)
c.3116T>C (p.Leu1039Pro)
c.2666T>C (p.Leu889Pro)
c.968T>C (p.Leu323Pro)
c.877-1646T>C (n.877-1646T>C)
c.3017T>C (p.Leu1006Pro)
c.3061-1646T>C (n.3061-1646T>C)
c.2738T>C (p.Leu913Pro)
c.2731-1646T>C (n.2731-1646T>C)
c.1820T>C (p.Leu607Pro)
n.3371T>C
13g.51944200A>TCA388030133ATP7Bc.*894-1646T>A (n.*894-1646T>A)
c.*1896T>A (n.*1896T>A)
c.2531T>A (p.Leu844Gln)
c.3152T>A (p.Leu1051Gln)
c.2819T>A (p.Leu940Gln)
c.2900T>A (p.Leu967Gln)
c.2918T>A (p.Leu973Gln)
n.3291T>A
n.3515T>A
c.2087T>A (p.Leu696Gln)
c.1862T>A (p.Leu621Gln)
c.2957T>A (p.Leu986Gln)
n.372T>A
c.1022-1646T>A
c.*253T>A (n.*253T>A)
n.3896T>A
n.2497T>A
c.3008T>A (p.Leu1003Gln)
n.498T>A
c.3056T>A (p.Leu1019Gln)
c.3116T>A (p.Leu1039Gln)
c.2666T>A (p.Leu889Gln)
c.968T>A (p.Leu323Gln)
c.877-1646T>A (n.877-1646T>A)
c.3017T>A (p.Leu1006Gln)
c.3061-1646T>A (n.3061-1646T>A)
c.2738T>A (p.Leu913Gln)
c.2731-1646T>A (n.2731-1646T>A)
c.1820T>A (p.Leu607Gln)
n.3371T>A
13g.51944201G>ACA6988794ATP7Bc.*894-1647C>T (n.*894-1647C>T)
c.*1895C>T (n.*1895C>T)
c.2530C>T (p.Leu844=)
c.3151C>T (p.Leu1051=)
c.2818C>T (p.Leu940=)
c.2899C>T (p.Leu967=)
c.2917C>T (p.Leu973=)
n.3290C>T
n.3514C>T
c.2086C>T (p.Leu696=)
c.1861C>T (p.Leu621=)
c.2956C>T (p.Leu986=)
n.371C>T
c.1022-1647C>T
c.*252C>T (n.*252C>T)
n.3895C>T
n.2496C>T
c.3007C>T (p.Leu1003=)
n.497C>T
c.3055C>T (p.Leu1019=)
c.3115C>T (p.Leu1039=)
c.2665C>T (p.Leu889=)
c.967C>T (p.Leu323=)
c.877-1647C>T (n.877-1647C>T)
c.3016C>T (p.Leu1006=)
c.3061-1647C>T (n.3061-1647C>T)
c.2737C>T (p.Leu913=)
c.2731-1647C>T (n.2731-1647C>T)
c.1819C>T (p.Leu607=)
n.3370C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944201G>CCA388030134ATP7Bc.*894-1647C>G (n.*894-1647C>G)
c.*1895C>G (n.*1895C>G)
c.2530C>G (p.Leu844Val)
c.3151C>G (p.Leu1051Val)
c.2818C>G (p.Leu940Val)
c.2899C>G (p.Leu967Val)
c.2917C>G (p.Leu973Val)
n.3290C>G
n.3514C>G
c.2086C>G (p.Leu696Val)
c.1861C>G (p.Leu621Val)
c.2956C>G (p.Leu986Val)
n.371C>G
c.1022-1647C>G
c.*252C>G (n.*252C>G)
n.3895C>G
n.2496C>G
c.3007C>G (p.Leu1003Val)
n.497C>G
c.3055C>G (p.Leu1019Val)
c.3115C>G (p.Leu1039Val)
c.2665C>G (p.Leu889Val)
c.967C>G (p.Leu323Val)
c.877-1647C>G (n.877-1647C>G)
c.3016C>G (p.Leu1006Val)
c.3061-1647C>G (n.3061-1647C>G)
c.2737C>G (p.Leu913Val)
c.2731-1647C>G (n.2731-1647C>G)
c.1819C>G (p.Leu607Val)
n.3370C>G
13g.51944201G=CA2091563955ATP7Bc.*894-1647C= (n.*894-1647C=)
c.*1895C= (n.*1895C=)
c.2530C= (p.Leu844=)
c.3151C= (p.Leu1051=)
c.2818C= (p.Leu940=)
c.2899C= (p.Leu967=)
c.2917C= (p.Leu973=)
n.3290C=
n.3514C=
c.2086C= (p.Leu696=)
c.1861C= (p.Leu621=)
c.2956C= (p.Leu986=)
n.371C=
c.1022-1647C=
c.*252C= (n.*252C=)
n.3895C=
n.2496C=
c.3007C= (p.Leu1003=)
n.497C=
c.3055C= (p.Leu1019=)
c.3115C= (p.Leu1039=)
c.2665C= (p.Leu889=)
c.967C= (p.Leu323=)
c.877-1647C= (n.877-1647C=)
c.3016C= (p.Leu1006=)
c.3061-1647C= (n.3061-1647C=)
c.2737C= (p.Leu913=)
c.2731-1647C= (n.2731-1647C=)
c.1819C= (p.Leu607=)
n.3370C=
13g.51944201G>TCA388030136ATP7Bc.*894-1647C>A (n.*894-1647C>A)
c.*1895C>A (n.*1895C>A)
c.2530C>A (p.Leu844Met)
c.3151C>A (p.Leu1051Met)
c.2818C>A (p.Leu940Met)
c.2899C>A (p.Leu967Met)
c.2917C>A (p.Leu973Met)
n.3290C>A
n.3514C>A
c.2086C>A (p.Leu696Met)
c.1861C>A (p.Leu621Met)
c.2956C>A (p.Leu986Met)
n.371C>A
c.1022-1647C>A
c.*252C>A (n.*252C>A)
n.3895C>A
n.2496C>A
c.3007C>A (p.Leu1003Met)
n.497C>A
c.3055C>A (p.Leu1019Met)
c.3115C>A (p.Leu1039Met)
c.2665C>A (p.Leu889Met)
c.967C>A (p.Leu323Met)
c.877-1647C>A (n.877-1647C>A)
c.3016C>A (p.Leu1006Met)
c.3061-1647C>A (n.3061-1647C>A)
c.2737C>A (p.Leu913Met)
c.2731-1647C>A (n.2731-1647C>A)
c.1819C>A (p.Leu607Met)
n.3370C>A
13g.51944204_51944205delCA912974798ATP7Bc.*894-1648_*894-1647del (n.*894-1648_*894-1647del)
c.*1894_*1895del (n.*1894_*1895del)
c.2529_2530del (p.Leu844AlafsTer17)
c.3150_3151del (p.Leu1051AlafsTer17)
c.2817_2818del (p.Leu940AlafsTer17)
c.2898_2899del (p.Leu967AlafsTer17)
c.2916_2917del (p.Leu973AlafsTer17)
n.3289_3290del
n.3513_3514del
c.2085_2086del (p.Leu696AlafsTer17)
c.1860_1861del (p.Leu621AlafsTer17)
c.2955_2956del (p.Leu986AlafsTer17)
n.370_371del
c.1022-1648_1022-1647del
c.*251_*252del (n.*251_*252del)
n.3894_3895del
n.2495_2496del
c.3006_3007del (p.Leu1003AlafsTer17)
n.496_497del
c.3054_3055del (p.Leu1019AlafsTer17)
c.3114_3115del (p.Leu1039AlafsTer17)
c.2664_2665del (p.Leu889AlafsTer17)
c.966_967del (p.Leu323AlafsTer17)
c.877-1648_877-1647del (n.877-1648_877-1647del)
c.3015_3016del (p.Leu1006AlafsTer17)
c.3061-1648_3061-1647del (n.3061-1648_3061-1647del)
c.2736_2737del (p.Leu913AlafsTer17)
c.2731-1648_2731-1647del (n.2731-1648_2731-1647del)
c.1818_1819del (p.Leu607AlafsTer17)
n.3369_3370del
13g.51944202T>ACA483894709ATP7Bc.*894-1648A>T (n.*894-1648A>T)
c.*1894A>T (n.*1894A>T)
c.2529A>T (p.Thr843=)
c.3150A>T (p.Thr1050=)
c.2817A>T (p.Thr939=)
c.2898A>T (p.Thr966=)
c.2916A>T (p.Thr972=)
n.3289A>T
n.3513A>T
c.2085A>T (p.Thr695=)
c.1860A>T (p.Thr620=)
c.2955A>T (p.Thr985=)
n.370A>T
c.1022-1648A>T
c.*251A>T (n.*251A>T)
n.3894A>T
n.2495A>T
c.3006A>T (p.Thr1002=)
n.496A>T
c.3054A>T (p.Thr1018=)
c.3114A>T (p.Thr1038=)
c.2664A>T (p.Thr888=)
c.966A>T (p.Thr322=)
c.877-1648A>T (n.877-1648A>T)
c.3015A>T (p.Thr1005=)
c.3061-1648A>T (n.3061-1648A>T)
c.2736A>T (p.Thr912=)
c.2731-1648A>T (n.2731-1648A>T)
c.1818A>T (p.Thr606=)
n.3369A>T
13g.51944202T>CCA6988795ATP7Bc.*894-1648A>G (n.*894-1648A>G)
c.*1894A>G (n.*1894A>G)
c.2529A>G (p.Thr843=)
c.3150A>G (p.Thr1050=)
c.2817A>G (p.Thr939=)
c.2898A>G (p.Thr966=)
c.2916A>G (p.Thr972=)
n.3289A>G
n.3513A>G
c.2085A>G (p.Thr695=)
c.1860A>G (p.Thr620=)
c.2955A>G (p.Thr985=)
n.370A>G
c.1022-1648A>G
c.*251A>G (n.*251A>G)
n.3894A>G
n.2495A>G
c.3006A>G (p.Thr1002=)
n.496A>G
c.3054A>G (p.Thr1018=)
c.3114A>G (p.Thr1038=)
c.2664A>G (p.Thr888=)
c.966A>G (p.Thr322=)
c.877-1648A>G (n.877-1648A>G)
c.3015A>G (p.Thr1005=)
c.3061-1648A>G (n.3061-1648A>G)
c.2736A>G (p.Thr912=)
c.2731-1648A>G (n.2731-1648A>G)
c.1818A>G (p.Thr606=)
n.3369A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944202T>GCA483894710ATP7Bc.*894-1648A>C (n.*894-1648A>C)
c.*1894A>C (n.*1894A>C)
c.2529A>C (p.Thr843=)
c.3150A>C (p.Thr1050=)
c.2817A>C (p.Thr939=)
c.2898A>C (p.Thr966=)
c.2916A>C (p.Thr972=)
n.3289A>C
n.3513A>C
c.2085A>C (p.Thr695=)
c.1860A>C (p.Thr620=)
c.2955A>C (p.Thr985=)
n.370A>C
c.1022-1648A>C
c.*251A>C (n.*251A>C)
n.3894A>C
n.2495A>C
c.3006A>C (p.Thr1002=)
n.496A>C
c.3054A>C (p.Thr1018=)
c.3114A>C (p.Thr1038=)
c.2664A>C (p.Thr888=)
c.966A>C (p.Thr322=)
c.877-1648A>C (n.877-1648A>C)
c.3015A>C (p.Thr1005=)
c.3061-1648A>C (n.3061-1648A>C)
c.2736A>C (p.Thr912=)
c.2731-1648A>C (n.2731-1648A>C)
c.1818A>C (p.Thr606=)
n.3369A>C
13g.51944202T=CA2091563963ATP7Bc.*894-1648A= (n.*894-1648A=)
c.*1894A= (n.*1894A=)
c.2529A= (p.Thr843=)
c.3150A= (p.Thr1050=)
c.2817A= (p.Thr939=)
c.2898A= (p.Thr966=)
c.2916A= (p.Thr972=)
n.3289A=
n.3513A=
c.2085A= (p.Thr695=)
c.1860A= (p.Thr620=)
c.2955A= (p.Thr985=)
n.370A=
c.1022-1648A=
c.*251A= (n.*251A=)
n.3894A=
n.2495A=
c.3006A= (p.Thr1002=)
n.496A=
c.3054A= (p.Thr1018=)
c.3114A= (p.Thr1038=)
c.2664A= (p.Thr888=)
c.966A= (p.Thr322=)
c.877-1648A= (n.877-1648A=)
c.3015A= (p.Thr1005=)
c.3061-1648A= (n.3061-1648A=)
c.2736A= (p.Thr912=)
c.2731-1648A= (n.2731-1648A=)
c.1818A= (p.Thr606=)
n.3369A=
13g.51944203G>ACA388030144ATP7Bc.*894-1649C>T (n.*894-1649C>T)
c.*1893C>T (n.*1893C>T)
c.2528C>T (p.Thr843Ile)
c.3149C>T (p.Thr1050Ile)
c.2816C>T (p.Thr939Ile)
c.2897C>T (p.Thr966Ile)
c.2915C>T (p.Thr972Ile)
n.3288C>T
n.3512C>T
c.2084C>T (p.Thr695Ile)
c.1859C>T (p.Thr620Ile)
c.2954C>T (p.Thr985Ile)
n.369C>T
c.1022-1649C>T
c.*250C>T (n.*250C>T)
n.3893C>T
n.2494C>T
c.3005C>T (p.Thr1002Ile)
n.495C>T
c.3053C>T (p.Thr1018Ile)
c.3113C>T (p.Thr1038Ile)
c.2663C>T (p.Thr888Ile)
c.965C>T (p.Thr322Ile)
c.877-1649C>T (n.877-1649C>T)
c.3014C>T (p.Thr1005Ile)
c.3061-1649C>T (n.3061-1649C>T)
c.2735C>T (p.Thr912Ile)
c.2731-1649C>T (n.2731-1649C>T)
c.1817C>T (p.Thr606Ile)
n.3368C>T
13g.51944203G>CCA388030142ATP7Bc.*894-1649C>G (n.*894-1649C>G)
c.*1893C>G (n.*1893C>G)
c.2528C>G (p.Thr843Arg)
c.3149C>G (p.Thr1050Arg)
c.2816C>G (p.Thr939Arg)
c.2897C>G (p.Thr966Arg)
c.2915C>G (p.Thr972Arg)
n.3288C>G
n.3512C>G
c.2084C>G (p.Thr695Arg)
c.1859C>G (p.Thr620Arg)
c.2954C>G (p.Thr985Arg)
n.369C>G
c.1022-1649C>G
c.*250C>G (n.*250C>G)
n.3893C>G
n.2494C>G
c.3005C>G (p.Thr1002Arg)
n.495C>G
c.3053C>G (p.Thr1018Arg)
c.3113C>G (p.Thr1038Arg)
c.2663C>G (p.Thr888Arg)
c.965C>G (p.Thr322Arg)
c.877-1649C>G (n.877-1649C>G)
c.3014C>G (p.Thr1005Arg)
c.3061-1649C>G (n.3061-1649C>G)
c.2735C>G (p.Thr912Arg)
c.2731-1649C>G (n.2731-1649C>G)
c.1817C>G (p.Thr606Arg)
n.3368C>G
13g.51944203G>TCA388030139ATP7Bc.*894-1649C>A (n.*894-1649C>A)
c.*1893C>A (n.*1893C>A)
c.2528C>A (p.Thr843Lys)
c.3149C>A (p.Thr1050Lys)
c.2816C>A (p.Thr939Lys)
c.2897C>A (p.Thr966Lys)
c.2915C>A (p.Thr972Lys)
n.3288C>A
n.3512C>A
c.2084C>A (p.Thr695Lys)
c.1859C>A (p.Thr620Lys)
c.2954C>A (p.Thr985Lys)
n.369C>A
c.1022-1649C>A
c.*250C>A (n.*250C>A)
n.3893C>A
n.2494C>A
c.3005C>A (p.Thr1002Lys)
n.495C>A
c.3053C>A (p.Thr1018Lys)
c.3113C>A (p.Thr1038Lys)
c.2663C>A (p.Thr888Lys)
c.965C>A (p.Thr322Lys)
c.877-1649C>A (n.877-1649C>A)
c.3014C>A (p.Thr1005Lys)
c.3061-1649C>A (n.3061-1649C>A)
c.2735C>A (p.Thr912Lys)
c.2731-1649C>A (n.2731-1649C>A)
c.1817C>A (p.Thr606Lys)
n.3368C>A
13g.51944204T>ACA388030146ATP7Bc.*894-1650A>T (n.*894-1650A>T)
c.*1892A>T (n.*1892A>T)
c.2527A>T (p.Thr843Ser)
c.3148A>T (p.Thr1050Ser)
c.2815A>T (p.Thr939Ser)
c.2896A>T (p.Thr966Ser)
c.2914A>T (p.Thr972Ser)
n.3287A>T
n.3511A>T
c.2083A>T (p.Thr695Ser)
c.1858A>T (p.Thr620Ser)
c.2953A>T (p.Thr985Ser)
n.368A>T
c.1022-1650A>T
c.*249A>T (n.*249A>T)
n.3892A>T
n.2493A>T
c.3004A>T (p.Thr1002Ser)
n.494A>T
c.3052A>T (p.Thr1018Ser)
c.3112A>T (p.Thr1038Ser)
c.2662A>T (p.Thr888Ser)
c.964A>T (p.Thr322Ser)
c.877-1650A>T (n.877-1650A>T)
c.3013A>T (p.Thr1005Ser)
c.3061-1650A>T (n.3061-1650A>T)
c.2734A>T (p.Thr912Ser)
c.2731-1650A>T (n.2731-1650A>T)
c.1816A>T (p.Thr606Ser)
n.3367A>T
13g.51944204T>CCA388030149ATP7Bc.*894-1650A>G (n.*894-1650A>G)
c.*1892A>G (n.*1892A>G)
c.2527A>G (p.Thr843Ala)
c.3148A>G (p.Thr1050Ala)
c.2815A>G (p.Thr939Ala)
c.2896A>G (p.Thr966Ala)
c.2914A>G (p.Thr972Ala)
n.3287A>G
n.3511A>G
c.2083A>G (p.Thr695Ala)
c.1858A>G (p.Thr620Ala)
c.2953A>G (p.Thr985Ala)
n.368A>G
c.1022-1650A>G
c.*249A>G (n.*249A>G)
n.3892A>G
n.2493A>G
c.3004A>G (p.Thr1002Ala)
n.494A>G
c.3052A>G (p.Thr1018Ala)
c.3112A>G (p.Thr1038Ala)
c.2662A>G (p.Thr888Ala)
c.964A>G (p.Thr322Ala)
c.877-1650A>G (n.877-1650A>G)
c.3013A>G (p.Thr1005Ala)
c.3061-1650A>G (n.3061-1650A>G)
c.2734A>G (p.Thr912Ala)
c.2731-1650A>G (n.2731-1650A>G)
c.1816A>G (p.Thr606Ala)
n.3367A>G
 gnomAD v4
13g.51944204T>GCA388030147ATP7Bc.*894-1650A>C (n.*894-1650A>C)
c.*1892A>C (n.*1892A>C)
c.2527A>C (p.Thr843Pro)
c.3148A>C (p.Thr1050Pro)
c.2815A>C (p.Thr939Pro)
c.2896A>C (p.Thr966Pro)
c.2914A>C (p.Thr972Pro)
n.3287A>C
n.3511A>C
c.2083A>C (p.Thr695Pro)
c.1858A>C (p.Thr620Pro)
c.2953A>C (p.Thr985Pro)
n.368A>C
c.1022-1650A>C
c.*249A>C (n.*249A>C)
n.3892A>C
n.2493A>C
c.3004A>C (p.Thr1002Pro)
n.494A>C
c.3052A>C (p.Thr1018Pro)
c.3112A>C (p.Thr1038Pro)
c.2662A>C (p.Thr888Pro)
c.964A>C (p.Thr322Pro)
c.877-1650A>C (n.877-1650A>C)
c.3013A>C (p.Thr1005Pro)
c.3061-1650A>C (n.3061-1650A>C)
c.2734A>C (p.Thr912Pro)
c.2731-1650A>C (n.2731-1650A>C)
c.1816A>C (p.Thr606Pro)
n.3367A>C
13g.51944204_51944205delinsTGCA2091563969ATP7Bc.*894-1651_*894-1650delinsCA (n.*894-1651_*894-1650delinsCA)
c.*1891_*1892delinsCA (n.*1891_*1892delinsCA)
c.2526_2527delinsCA (p.Ala842=)
c.3147_3148delinsCA (p.Ala1049=)
c.2814_2815delinsCA (p.Ala938=)
c.2895_2896delinsCA (p.Ala965=)
c.2913_2914delinsCA (p.Ala971=)
n.3286_3287delinsCA
n.3510_3511delinsCA
c.2082_2083delinsCA (p.Ala694=)
c.1857_1858delinsCA (p.Ala619=)
c.2952_2953delinsCA (p.Ala984=)
n.367_368delinsCA
c.1022-1651_1022-1650delinsCA
c.*248_*249delinsCA (n.*248_*249delinsCA)
n.3891_3892delinsCA
n.2492_2493delinsCA
c.3003_3004delinsCA (p.Ala1001=)
n.493_494delinsCA
c.3051_3052delinsCA (p.Ala1017=)
c.3111_3112delinsCA (p.Ala1037=)
c.2661_2662delinsCA (p.Ala887=)
c.963_964delinsCA (p.Ala321=)
c.877-1651_877-1650delinsCA (n.877-1651_877-1650delinsCA)
c.3012_3013delinsCA (p.Ala1004=)
c.3061-1651_3061-1650delinsCA (n.3061-1651_3061-1650delinsCA)
c.2733_2734delinsCA (p.Ala911=)
c.2731-1651_2731-1650delinsCA (n.2731-1651_2731-1650delinsCA)
c.1815_1816delinsCA (p.Ala605=)
n.3366_3367delinsCA
13g.51944205G>ACA483894711ATP7Bc.*894-1651C>T (n.*894-1651C>T)
c.*1891C>T (n.*1891C>T)
c.2526C>T (p.Ala842=)
c.3147C>T (p.Ala1049=)
c.2814C>T (p.Ala938=)
c.2895C>T (p.Ala965=)
c.2913C>T (p.Ala971=)
n.3286C>T
n.3510C>T
c.2082C>T (p.Ala694=)
c.1857C>T (p.Ala619=)
c.2952C>T (p.Ala984=)
n.367C>T
c.1022-1651C>T
c.*248C>T (n.*248C>T)
n.3891C>T
n.2492C>T
c.3003C>T (p.Ala1001=)
n.493C>T
c.3051C>T (p.Ala1017=)
c.3111C>T (p.Ala1037=)
c.2661C>T (p.Ala887=)
c.963C>T (p.Ala321=)
c.877-1651C>T (n.877-1651C>T)
c.3012C>T (p.Ala1004=)
c.3061-1651C>T (n.3061-1651C>T)
c.2733C>T (p.Ala911=)
c.2731-1651C>T (n.2731-1651C>T)
c.1815C>T (p.Ala605=)
n.3366C>T
13g.51944205G>CCA483894712ATP7Bc.*894-1651C>G (n.*894-1651C>G)
c.*1891C>G (n.*1891C>G)
c.2526C>G (p.Ala842=)
c.3147C>G (p.Ala1049=)
c.2814C>G (p.Ala938=)
c.2895C>G (p.Ala965=)
c.2913C>G (p.Ala971=)
n.3286C>G
n.3510C>G
c.2082C>G (p.Ala694=)
c.1857C>G (p.Ala619=)
c.2952C>G (p.Ala984=)
n.367C>G
c.1022-1651C>G
c.*248C>G (n.*248C>G)
n.3891C>G
n.2492C>G
c.3003C>G (p.Ala1001=)
n.493C>G
c.3051C>G (p.Ala1017=)
c.3111C>G (p.Ala1037=)
c.2661C>G (p.Ala887=)
c.963C>G (p.Ala321=)
c.877-1651C>G (n.877-1651C>G)
c.3012C>G (p.Ala1004=)
c.3061-1651C>G (n.3061-1651C>G)
c.2733C>G (p.Ala911=)
c.2731-1651C>G (n.2731-1651C>G)
c.1815C>G (p.Ala605=)
n.3366C>G
13g.51944205G>TCA483894713ATP7Bc.*894-1651C>A (n.*894-1651C>A)
c.*1891C>A (n.*1891C>A)
c.2526C>A (p.Ala842=)
c.3147C>A (p.Ala1049=)
c.2814C>A (p.Ala938=)
c.2895C>A (p.Ala965=)
c.2913C>A (p.Ala971=)
n.3286C>A
n.3510C>A
c.2082C>A (p.Ala694=)
c.1857C>A (p.Ala619=)
c.2952C>A (p.Ala984=)
n.367C>A
c.1022-1651C>A
c.*248C>A (n.*248C>A)
n.3891C>A
n.2492C>A
c.3003C>A (p.Ala1001=)
n.493C>A
c.3051C>A (p.Ala1017=)
c.3111C>A (p.Ala1037=)
c.2661C>A (p.Ala887=)
c.963C>A (p.Ala321=)
c.877-1651C>A (n.877-1651C>A)
c.3012C>A (p.Ala1004=)
c.3061-1651C>A (n.3061-1651C>A)
c.2733C>A (p.Ala911=)
c.2731-1651C>A (n.2731-1651C>A)
c.1815C>A (p.Ala605=)
n.3366C>A
13g.51944206delCA6988796ATP7Bc.*894-1651del (n.*894-1651del)
c.*1891del (n.*1891del)
c.2526del (p.Thr843HisfsTer?)
c.3147del (p.Thr1050HisfsTer?)
c.2814del (p.Thr939HisfsTer?)
c.2895del (p.Thr966HisfsTer?)
c.2913del (p.Thr972HisfsTer?)
n.3286del
n.3510del
c.2082del (p.Thr695HisfsTer?)
c.1857del (p.Thr620HisfsTer?)
c.2952del (p.Thr985HisfsTer?)
n.367del
c.1022-1651del
c.*248del (n.*248del)
n.3891del
n.2492del
c.3003del (p.Thr1002HisfsTer?)
n.493del
c.3051del (p.Thr1018HisfsTer?)
c.3111del (p.Thr1038HisfsTer?)
c.2661del (p.Thr888HisfsTer?)
c.963del (p.Thr322HisfsTer?)
c.877-1651del (n.877-1651del)
c.3012del (p.Thr1005HisfsTer?)
c.3061-1651del (n.3061-1651del)
c.2733del (p.Thr912HisfsTer?)
c.2731-1651del (n.2731-1651del)
c.1815del (p.Thr606HisfsTer?)
n.3366del
 ClinVar dbSNP ExAC gnomAD v4
13g.51944206G>ACA6988797ATP7Bc.*894-1652C>T (n.*894-1652C>T)
c.*1890C>T (n.*1890C>T)
c.2525C>T (p.Ala842Val)
c.3146C>T (p.Ala1049Val)
c.2813C>T (p.Ala938Val)
c.2894C>T (p.Ala965Val)
c.2912C>T (p.Ala971Val)
n.3285C>T
n.3509C>T
c.2081C>T (p.Ala694Val)
c.1856C>T (p.Ala619Val)
c.2951C>T (p.Ala984Val)
n.366C>T
c.1022-1652C>T
c.*247C>T (n.*247C>T)
n.3890C>T
n.2491C>T
c.3002C>T (p.Ala1001Val)
n.492C>T
c.3050C>T (p.Ala1017Val)
c.3110C>T (p.Ala1037Val)
c.2660C>T (p.Ala887Val)
c.962C>T (p.Ala321Val)
c.877-1652C>T (n.877-1652C>T)
c.3011C>T (p.Ala1004Val)
c.3061-1652C>T (n.3061-1652C>T)
c.2732C>T (p.Ala911Val)
c.2731-1652C>T (n.2731-1652C>T)
c.1814C>T (p.Ala605Val)
n.3365C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944206G>CCA388030157ATP7Bc.*894-1652C>G (n.*894-1652C>G)
c.*1890C>G (n.*1890C>G)
c.2525C>G (p.Ala842Gly)
c.3146C>G (p.Ala1049Gly)
c.2813C>G (p.Ala938Gly)
c.2894C>G (p.Ala965Gly)
c.2912C>G (p.Ala971Gly)
n.3285C>G
n.3509C>G
c.2081C>G (p.Ala694Gly)
c.1856C>G (p.Ala619Gly)
c.2951C>G (p.Ala984Gly)
n.366C>G
c.1022-1652C>G
c.*247C>G (n.*247C>G)
n.3890C>G
n.2491C>G
c.3002C>G (p.Ala1001Gly)
n.492C>G
c.3050C>G (p.Ala1017Gly)
c.3110C>G (p.Ala1037Gly)
c.2660C>G (p.Ala887Gly)
c.962C>G (p.Ala321Gly)
c.877-1652C>G (n.877-1652C>G)
c.3011C>G (p.Ala1004Gly)
c.3061-1652C>G (n.3061-1652C>G)
c.2732C>G (p.Ala911Gly)
c.2731-1652C>G (n.2731-1652C>G)
c.1814C>G (p.Ala605Gly)
n.3365C>G
13g.51944206G=CA2091563980ATP7Bc.*894-1652C= (n.*894-1652C=)
c.*1890C= (n.*1890C=)
c.2525C= (p.Ala842=)
c.3146C= (p.Ala1049=)
c.2813C= (p.Ala938=)
c.2894C= (p.Ala965=)
c.2912C= (p.Ala971=)
n.3285C=
n.3509C=
c.2081C= (p.Ala694=)
c.1856C= (p.Ala619=)
c.2951C= (p.Ala984=)
n.366C=
c.1022-1652C=
c.*247C= (n.*247C=)
n.3890C=
n.2491C=
c.3002C= (p.Ala1001=)
n.492C=
c.3050C= (p.Ala1017=)
c.3110C= (p.Ala1037=)
c.2660C= (p.Ala887=)
c.962C= (p.Ala321=)
c.877-1652C= (n.877-1652C=)
c.3011C= (p.Ala1004=)
c.3061-1652C= (n.3061-1652C=)
c.2732C= (p.Ala911=)
c.2731-1652C= (n.2731-1652C=)
c.1814C= (p.Ala605=)
n.3365C=
13g.51944206G>TCA388030159ATP7Bc.*894-1652C>A (n.*894-1652C>A)
c.*1890C>A (n.*1890C>A)
c.2525C>A (p.Ala842Asp)
c.3146C>A (p.Ala1049Asp)
c.2813C>A (p.Ala938Asp)
c.2894C>A (p.Ala965Asp)
c.2912C>A (p.Ala971Asp)
n.3285C>A
n.3509C>A
c.2081C>A (p.Ala694Asp)
c.1856C>A (p.Ala619Asp)
c.2951C>A (p.Ala984Asp)
n.366C>A
c.1022-1652C>A
c.*247C>A (n.*247C>A)
n.3890C>A
n.2491C>A
c.3002C>A (p.Ala1001Asp)
n.492C>A
c.3050C>A (p.Ala1017Asp)
c.3110C>A (p.Ala1037Asp)
c.2660C>A (p.Ala887Asp)
c.962C>A (p.Ala321Asp)
c.877-1652C>A (n.877-1652C>A)
c.3011C>A (p.Ala1004Asp)
c.3061-1652C>A (n.3061-1652C>A)
c.2732C>A (p.Ala911Asp)
c.2731-1652C>A (n.2731-1652C>A)
c.1814C>A (p.Ala605Asp)
n.3365C>A
13g.51944207C>ACA388030162ATP7Bc.*894-1653G>T (n.*894-1653G>T)
c.*1889G>T (n.*1889G>T)
c.2524G>T (p.Ala842Ser)
c.3145G>T (p.Ala1049Ser)
c.2812G>T (p.Ala938Ser)
c.2893G>T (p.Ala965Ser)
c.2911G>T (p.Ala971Ser)
n.3284G>T
n.3508G>T
c.2080G>T (p.Ala694Ser)
c.1855G>T (p.Ala619Ser)
c.2950G>T (p.Ala984Ser)
n.365G>T
c.1022-1653G>T
c.*246G>T (n.*246G>T)
n.3889G>T
n.2490G>T
c.3001G>T (p.Ala1001Ser)
n.491G>T
c.3049G>T (p.Ala1017Ser)
c.3109G>T (p.Ala1037Ser)
c.2659G>T (p.Ala887Ser)
c.961G>T (p.Ala321Ser)
c.877-1653G>T (n.877-1653G>T)
c.3010G>T (p.Ala1004Ser)
c.3061-1653G>T (n.3061-1653G>T)
c.2731G>T (p.Ala911Ser)
c.2731-1653G>T (n.2731-1653G>T)
c.1813G>T (p.Ala605Ser)
n.3364G>T
13g.51944207C>GCA388030166ATP7Bc.*894-1653G>C (n.*894-1653G>C)
c.*1889G>C (n.*1889G>C)
c.2524G>C (p.Ala842Pro)
c.3145G>C (p.Ala1049Pro)
c.2812G>C (p.Ala938Pro)
c.2893G>C (p.Ala965Pro)
c.2911G>C (p.Ala971Pro)
n.3284G>C
n.3508G>C
c.2080G>C (p.Ala694Pro)
c.1855G>C (p.Ala619Pro)
c.2950G>C (p.Ala984Pro)
n.365G>C
c.1022-1653G>C
c.*246G>C (n.*246G>C)
n.3889G>C
n.2490G>C
c.3001G>C (p.Ala1001Pro)
n.491G>C
c.3049G>C (p.Ala1017Pro)
c.3109G>C (p.Ala1037Pro)
c.2659G>C (p.Ala887Pro)
c.961G>C (p.Ala321Pro)
c.877-1653G>C (n.877-1653G>C)
c.3010G>C (p.Ala1004Pro)
c.3061-1653G>C (n.3061-1653G>C)
c.2731G>C (p.Ala911Pro)
c.2731-1653G>C (n.2731-1653G>C)
c.1813G>C (p.Ala605Pro)
n.3364G>C
 gnomAD v4
13g.51944207C>TCA388030172ATP7Bc.*894-1653G>A (n.*894-1653G>A)
c.*1889G>A (n.*1889G>A)
c.2524G>A (p.Ala842Thr)
c.3145G>A (p.Ala1049Thr)
c.2812G>A (p.Ala938Thr)
c.2893G>A (p.Ala965Thr)
c.2911G>A (p.Ala971Thr)
n.3284G>A
n.3508G>A
c.2080G>A (p.Ala694Thr)
c.1855G>A (p.Ala619Thr)
c.2950G>A (p.Ala984Thr)
n.365G>A
c.1022-1653G>A
c.*246G>A (n.*246G>A)
n.3889G>A
n.2490G>A
c.3001G>A (p.Ala1001Thr)
n.491G>A
c.3049G>A (p.Ala1017Thr)
c.3109G>A (p.Ala1037Thr)
c.2659G>A (p.Ala887Thr)
c.961G>A (p.Ala321Thr)
c.877-1653G>A (n.877-1653G>A)
c.3010G>A (p.Ala1004Thr)
c.3061-1653G>A (n.3061-1653G>A)
c.2731G>A (p.Ala911Thr)
c.2731-1653G>A (n.2731-1653G>A)
c.1813G>A (p.Ala605Thr)
n.3364G>A
 gnomAD v4
13g.51944208C>ACA483894714ATP7Bc.*894-1654G>T (n.*894-1654G>T)
c.*1888G>T (n.*1888G>T)
c.2523G>T (p.Val841=)
c.3144G>T (p.Val1048=)
c.2811G>T (p.Val937=)
c.2892G>T (p.Val964=)
c.2910G>T (p.Val970=)
n.3283G>T
n.3507G>T
c.2079G>T (p.Val693=)
c.1854G>T (p.Val618=)
c.2949G>T (p.Val983=)
n.364G>T
c.1022-1654G>T
c.*245G>T (n.*245G>T)
n.3888G>T
n.2489G>T
c.3000G>T (p.Val1000=)
n.490G>T
c.3048G>T (p.Val1016=)
c.3108G>T (p.Val1036=)
c.2658G>T (p.Val886=)
c.960G>T (p.Val320=)
c.877-1654G>T (n.877-1654G>T)
c.3009G>T (p.Val1003=)
c.3061-1654G>T (n.3061-1654G>T)
c.2730G>T (p.Val910=)
c.2731-1654G>T (n.2731-1654G>T)
c.1812G>T (p.Val604=)
n.3363G>T
13g.51944208C>GCA483894716ATP7Bc.*894-1654G>C (n.*894-1654G>C)
c.*1888G>C (n.*1888G>C)
c.2523G>C (p.Val841=)
c.3144G>C (p.Val1048=)
c.2811G>C (p.Val937=)
c.2892G>C (p.Val964=)
c.2910G>C (p.Val970=)
n.3283G>C
n.3507G>C
c.2079G>C (p.Val693=)
c.1854G>C (p.Val618=)
c.2949G>C (p.Val983=)
n.364G>C
c.1022-1654G>C
c.*245G>C (n.*245G>C)
n.3888G>C
n.2489G>C
c.3000G>C (p.Val1000=)
n.490G>C
c.3048G>C (p.Val1016=)
c.3108G>C (p.Val1036=)
c.2658G>C (p.Val886=)
c.960G>C (p.Val320=)
c.877-1654G>C (n.877-1654G>C)
c.3009G>C (p.Val1003=)
c.3061-1654G>C (n.3061-1654G>C)
c.2730G>C (p.Val910=)
c.2731-1654G>C (n.2731-1654G>C)
c.1812G>C (p.Val604=)
n.3363G>C
13g.51944208C>TCA483894715ATP7Bc.*894-1654G>A (n.*894-1654G>A)
c.*1888G>A (n.*1888G>A)
c.2523G>A (p.Val841=)
c.3144G>A (p.Val1048=)
c.2811G>A (p.Val937=)
c.2892G>A (p.Val964=)
c.2910G>A (p.Val970=)
n.3283G>A
n.3507G>A
c.2079G>A (p.Val693=)
c.1854G>A (p.Val618=)
c.2949G>A (p.Val983=)
n.364G>A
c.1022-1654G>A
c.*245G>A (n.*245G>A)
n.3888G>A
n.2489G>A
c.3000G>A (p.Val1000=)
n.490G>A
c.3048G>A (p.Val1016=)
c.3108G>A (p.Val1036=)
c.2658G>A (p.Val886=)
c.960G>A (p.Val320=)
c.877-1654G>A (n.877-1654G>A)
c.3009G>A (p.Val1003=)
c.3061-1654G>A (n.3061-1654G>A)
c.2730G>A (p.Val910=)
c.2731-1654G>A (n.2731-1654G>A)
c.1812G>A (p.Val604=)
n.3363G>A
13g.51944209A=CA2091563989ATP7Bc.*894-1655T= (n.*894-1655T=)
c.*1887T= (n.*1887T=)
c.2522T= (p.Val841=)
c.3143T= (p.Val1048=)
c.2810T= (p.Val937=)
c.2891T= (p.Val964=)
c.2909T= (p.Val970=)
n.3282T=
n.3506T=
c.2078T= (p.Val693=)
c.1853T= (p.Val618=)
c.2948T= (p.Val983=)
n.363T=
c.1022-1655T=
c.*244T= (n.*244T=)
n.3887T=
n.2488T=
c.2999T= (p.Val1000=)
n.489T=
c.3047T= (p.Val1016=)
c.3107T= (p.Val1036=)
c.2657T= (p.Val886=)
c.959T= (p.Val320=)
c.877-1655T= (n.877-1655T=)
c.3008T= (p.Val1003=)
c.3061-1655T= (n.3061-1655T=)
c.2729T= (p.Val910=)
c.2731-1655T= (n.2731-1655T=)
c.1811T= (p.Val604=)
n.3362T=
13g.51944209A>CCA388030174ATP7Bc.*894-1655T>G (n.*894-1655T>G)
c.*1887T>G (n.*1887T>G)
c.2522T>G (p.Val841Gly)
c.3143T>G (p.Val1048Gly)
c.2810T>G (p.Val937Gly)
c.2891T>G (p.Val964Gly)
c.2909T>G (p.Val970Gly)
n.3282T>G
n.3506T>G
c.2078T>G (p.Val693Gly)
c.1853T>G (p.Val618Gly)
c.2948T>G (p.Val983Gly)
n.363T>G
c.1022-1655T>G
c.*244T>G (n.*244T>G)
n.3887T>G
n.2488T>G
c.2999T>G (p.Val1000Gly)
n.489T>G
c.3047T>G (p.Val1016Gly)
c.3107T>G (p.Val1036Gly)
c.2657T>G (p.Val886Gly)
c.959T>G (p.Val320Gly)
c.877-1655T>G (n.877-1655T>G)
c.3008T>G (p.Val1003Gly)
c.3061-1655T>G (n.3061-1655T>G)
c.2729T>G (p.Val910Gly)
c.2731-1655T>G (n.2731-1655T>G)
c.1811T>G (p.Val604Gly)
n.3362T>G
13g.51944209A>GCA388030176ATP7Bc.*894-1655T>C (n.*894-1655T>C)
c.*1887T>C (n.*1887T>C)
c.2522T>C (p.Val841Ala)
c.3143T>C (p.Val1048Ala)
c.2810T>C (p.Val937Ala)
c.2891T>C (p.Val964Ala)
c.2909T>C (p.Val970Ala)
n.3282T>C
n.3506T>C
c.2078T>C (p.Val693Ala)
c.1853T>C (p.Val618Ala)
c.2948T>C (p.Val983Ala)
n.363T>C
c.1022-1655T>C
c.*244T>C (n.*244T>C)
n.3887T>C
n.2488T>C
c.2999T>C (p.Val1000Ala)
n.489T>C
c.3047T>C (p.Val1016Ala)
c.3107T>C (p.Val1036Ala)
c.2657T>C (p.Val886Ala)
c.959T>C (p.Val320Ala)
c.877-1655T>C (n.877-1655T>C)
c.3008T>C (p.Val1003Ala)
c.3061-1655T>C (n.3061-1655T>C)
c.2729T>C (p.Val910Ala)
c.2731-1655T>C (n.2731-1655T>C)
c.1811T>C (p.Val604Ala)
n.3362T>C
13g.51944209A>TCA388030178ATP7Bc.*894-1655T>A (n.*894-1655T>A)
c.*1887T>A (n.*1887T>A)
c.2522T>A (p.Val841Glu)
c.3143T>A (p.Val1048Glu)
c.2810T>A (p.Val937Glu)
c.2891T>A (p.Val964Glu)
c.2909T>A (p.Val970Glu)
n.3282T>A
n.3506T>A
c.2078T>A (p.Val693Glu)
c.1853T>A (p.Val618Glu)
c.2948T>A (p.Val983Glu)
n.363T>A
c.1022-1655T>A
c.*244T>A (n.*244T>A)
n.3887T>A
n.2488T>A
c.2999T>A (p.Val1000Glu)
n.489T>A
c.3047T>A (p.Val1016Glu)
c.3107T>A (p.Val1036Glu)
c.2657T>A (p.Val886Glu)
c.959T>A (p.Val320Glu)
c.877-1655T>A (n.877-1655T>A)
c.3008T>A (p.Val1003Glu)
c.3061-1655T>A (n.3061-1655T>A)
c.2729T>A (p.Val910Glu)
c.2731-1655T>A (n.2731-1655T>A)
c.1811T>A (p.Val604Glu)
n.3362T>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51944210C>ACA388030185ATP7Bc.*894-1656G>T (n.*894-1656G>T)
c.*1886G>T (n.*1886G>T)
c.2521G>T (p.Val841Leu)
c.3142G>T (p.Val1048Leu)
c.2809G>T (p.Val937Leu)
c.2890G>T (p.Val964Leu)
c.2908G>T (p.Val970Leu)
n.3281G>T
n.3505G>T
c.2077G>T (p.Val693Leu)
c.1852G>T (p.Val618Leu)
c.2947G>T (p.Val983Leu)
n.362G>T
c.1022-1656G>T
c.*243G>T (n.*243G>T)
n.3886G>T
n.2487G>T
c.2998G>T (p.Val1000Leu)
n.488G>T
c.3046G>T (p.Val1016Leu)
c.3106G>T (p.Val1036Leu)
c.2656G>T (p.Val886Leu)
c.958G>T (p.Val320Leu)
c.877-1656G>T (n.877-1656G>T)
c.3007G>T (p.Val1003Leu)
c.3061-1656G>T (n.3061-1656G>T)
c.2728G>T (p.Val910Leu)
c.2731-1656G>T (n.2731-1656G>T)
c.1810G>T (p.Val604Leu)
n.3361G>T
 dbSNP gnomAD v2 gnomAD v4
13g.51944210C=CA2091563995ATP7Bc.*894-1656G= (n.*894-1656G=)
c.*1886G= (n.*1886G=)
c.2521G= (p.Val841=)
c.3142G= (p.Val1048=)
c.2809G= (p.Val937=)
c.2890G= (p.Val964=)
c.2908G= (p.Val970=)
n.3281G=
n.3505G=
c.2077G= (p.Val693=)
c.1852G= (p.Val618=)
c.2947G= (p.Val983=)
n.362G=
c.1022-1656G=
c.*243G= (n.*243G=)
n.3886G=
n.2487G=
c.2998G= (p.Val1000=)
n.488G=
c.3046G= (p.Val1016=)
c.3106G= (p.Val1036=)
c.2656G= (p.Val886=)
c.958G= (p.Val320=)
c.877-1656G= (n.877-1656G=)
c.3007G= (p.Val1003=)
c.3061-1656G= (n.3061-1656G=)
c.2728G= (p.Val910=)
c.2731-1656G= (n.2731-1656G=)
c.1810G= (p.Val604=)
n.3361G=
13g.51944210C>GCA388030182ATP7Bc.*894-1656G>C (n.*894-1656G>C)
c.*1886G>C (n.*1886G>C)
c.2521G>C (p.Val841Leu)
c.3142G>C (p.Val1048Leu)
c.2809G>C (p.Val937Leu)
c.2890G>C (p.Val964Leu)
c.2908G>C (p.Val970Leu)
n.3281G>C
n.3505G>C
c.2077G>C (p.Val693Leu)
c.1852G>C (p.Val618Leu)
c.2947G>C (p.Val983Leu)
n.362G>C
c.1022-1656G>C
c.*243G>C (n.*243G>C)
n.3886G>C
n.2487G>C
c.2998G>C (p.Val1000Leu)
n.488G>C
c.3046G>C (p.Val1016Leu)
c.3106G>C (p.Val1036Leu)
c.2656G>C (p.Val886Leu)
c.958G>C (p.Val320Leu)
c.877-1656G>C (n.877-1656G>C)
c.3007G>C (p.Val1003Leu)
c.3061-1656G>C (n.3061-1656G>C)
c.2728G>C (p.Val910Leu)
c.2731-1656G>C (n.2731-1656G>C)
c.1810G>C (p.Val604Leu)
n.3361G>C
13g.51944210C>TCA388030181ATP7Bc.*894-1656G>A (n.*894-1656G>A)
c.*1886G>A (n.*1886G>A)
c.2521G>A (p.Val841Met)
c.3142G>A (p.Val1048Met)
c.2809G>A (p.Val937Met)
c.2890G>A (p.Val964Met)
c.2908G>A (p.Val970Met)
n.3281G>A
n.3505G>A
c.2077G>A (p.Val693Met)
c.1852G>A (p.Val618Met)
c.2947G>A (p.Val983Met)
n.362G>A
c.1022-1656G>A
c.*243G>A (n.*243G>A)
n.3886G>A
n.2487G>A
c.2998G>A (p.Val1000Met)
n.488G>A
c.3046G>A (p.Val1016Met)
c.3106G>A (p.Val1036Met)
c.2656G>A (p.Val886Met)
c.958G>A (p.Val320Met)
c.877-1656G>A (n.877-1656G>A)
c.3007G>A (p.Val1003Met)
c.3061-1656G>A (n.3061-1656G>A)
c.2728G>A (p.Val910Met)
c.2731-1656G>A (n.2731-1656G>A)
c.1810G>A (p.Val604Met)
n.3361G>A
 gnomAD v4
13g.51944211A=CA2091564000ATP7Bc.*894-1657T= (n.*894-1657T=)
c.*1885T= (n.*1885T=)
c.2520T= (p.Asp840=)
c.3141T= (p.Asp1047=)
c.2808T= (p.Asp936=)
c.2889T= (p.Asp963=)
c.2907T= (p.Asp969=)
n.3280T=
n.3504T=
c.2076T= (p.Asp692=)
c.1851T= (p.Asp617=)
c.2946T= (p.Asp982=)
n.361T=
c.1022-1657T=
c.*242T= (n.*242T=)
n.3885T=
n.2486T=
c.2997T= (p.Asp999=)
n.487T=
c.3045T= (p.Asp1015=)
c.3105T= (p.Asp1035=)
c.2655T= (p.Asp885=)
c.957T= (p.Asp319=)
c.877-1657T= (n.877-1657T=)
c.3006T= (p.Asp1002=)
c.3061-1657T= (n.3061-1657T=)
c.2727T= (p.Asp909=)
c.2731-1657T= (n.2731-1657T=)
c.1809T= (p.Asp603=)
n.3360T=
13g.51944211A>CCA388030191ATP7Bc.*894-1657T>G (n.*894-1657T>G)
c.*1885T>G (n.*1885T>G)
c.2520T>G (p.Asp840Glu)
c.3141T>G (p.Asp1047Glu)
c.2808T>G (p.Asp936Glu)
c.2889T>G (p.Asp963Glu)
c.2907T>G (p.Asp969Glu)
n.3280T>G
n.3504T>G
c.2076T>G (p.Asp692Glu)
c.1851T>G (p.Asp617Glu)
c.2946T>G (p.Asp982Glu)
n.361T>G
c.1022-1657T>G
c.*242T>G (n.*242T>G)
n.3885T>G
n.2486T>G
c.2997T>G (p.Asp999Glu)
n.487T>G
c.3045T>G (p.Asp1015Glu)
c.3105T>G (p.Asp1035Glu)
c.2655T>G (p.Asp885Glu)
c.957T>G (p.Asp319Glu)
c.877-1657T>G (n.877-1657T>G)
c.3006T>G (p.Asp1002Glu)
c.3061-1657T>G (n.3061-1657T>G)
c.2727T>G (p.Asp909Glu)
c.2731-1657T>G (n.2731-1657T>G)
c.1809T>G (p.Asp603Glu)
n.3360T>G
13g.51944211A>GCA483894717ATP7Bc.*894-1657T>C (n.*894-1657T>C)
c.*1885T>C (n.*1885T>C)
c.2520T>C (p.Asp840=)
c.3141T>C (p.Asp1047=)
c.2808T>C (p.Asp936=)
c.2889T>C (p.Asp963=)
c.2907T>C (p.Asp969=)
n.3280T>C
n.3504T>C
c.2076T>C (p.Asp692=)
c.1851T>C (p.Asp617=)
c.2946T>C (p.Asp982=)
n.361T>C
c.1022-1657T>C
c.*242T>C (n.*242T>C)
n.3885T>C
n.2486T>C
c.2997T>C (p.Asp999=)
n.487T>C
c.3045T>C (p.Asp1015=)
c.3105T>C (p.Asp1035=)
c.2655T>C (p.Asp885=)
c.957T>C (p.Asp319=)
c.877-1657T>C (n.877-1657T>C)
c.3006T>C (p.Asp1002=)
c.3061-1657T>C (n.3061-1657T>C)
c.2727T>C (p.Asp909=)
c.2731-1657T>C (n.2731-1657T>C)
c.1809T>C (p.Asp603=)
n.3360T>C
13g.51944211A>TCA6988798ATP7Bc.*894-1657T>A (n.*894-1657T>A)
c.*1885T>A (n.*1885T>A)
c.2520T>A (p.Asp840Glu)
c.3141T>A (p.Asp1047Glu)
c.2808T>A (p.Asp936Glu)
c.2889T>A (p.Asp963Glu)
c.2907T>A (p.Asp969Glu)
n.3280T>A
n.3504T>A
c.2076T>A (p.Asp692Glu)
c.1851T>A (p.Asp617Glu)
c.2946T>A (p.Asp982Glu)
n.361T>A
c.1022-1657T>A
c.*242T>A (n.*242T>A)
n.3885T>A
n.2486T>A
c.2997T>A (p.Asp999Glu)
n.487T>A
c.3045T>A (p.Asp1015Glu)
c.3105T>A (p.Asp1035Glu)
c.2655T>A (p.Asp885Glu)
c.957T>A (p.Asp319Glu)
c.877-1657T>A (n.877-1657T>A)
c.3006T>A (p.Asp1002Glu)
c.3061-1657T>A (n.3061-1657T>A)
c.2727T>A (p.Asp909Glu)
c.2731-1657T>A (n.2731-1657T>A)
c.1809T>A (p.Asp603Glu)
n.3360T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944212delCA2499222491ATP7Bc.*894-1658del (n.*894-1658del)
c.*1884del (n.*1884del)
c.2519del (p.Asp840ValfsTer?)
c.3140del (p.Asp1047ValfsTer?)
c.2807del (p.Asp936ValfsTer?)
c.2888del (p.Asp963ValfsTer?)
c.2906del (p.Asp969ValfsTer?)
n.3279del
n.3503del
c.2075del (p.Asp692ValfsTer?)
c.1850del (p.Asp617ValfsTer?)
c.2945del (p.Asp982ValfsTer?)
n.360del
c.1022-1658del
c.*241del (n.*241del)
n.3884del
n.2485del
c.2996del (p.Asp999ValfsTer?)
n.486del
c.3044del (p.Asp1015ValfsTer?)
c.3104del (p.Asp1035ValfsTer?)
c.2654del (p.Asp885ValfsTer?)
c.956del (p.Asp319ValfsTer?)
c.877-1658del (n.877-1658del)
c.3005del (p.Asp1002ValfsTer?)
c.3061-1658del (n.3061-1658del)
c.2726del (p.Asp909ValfsTer?)
c.2731-1658del (n.2731-1658del)
c.1808del (p.Asp603ValfsTer?)
n.3359del
 ClinVar dbSNP
13g.51944212T>ACA388030192ATP7Bc.*894-1658A>T (n.*894-1658A>T)
c.*1884A>T (n.*1884A>T)
c.2519A>T (p.Asp840Val)
c.3140A>T (p.Asp1047Val)
c.2807A>T (p.Asp936Val)
c.2888A>T (p.Asp963Val)
c.2906A>T (p.Asp969Val)
n.3279A>T
n.3503A>T
c.2075A>T (p.Asp692Val)
c.1850A>T (p.Asp617Val)
c.2945A>T (p.Asp982Val)
n.360A>T
c.1022-1658A>T
c.*241A>T (n.*241A>T)
n.3884A>T
n.2485A>T
c.2996A>T (p.Asp999Val)
n.486A>T
c.3044A>T (p.Asp1015Val)
c.3104A>T (p.Asp1035Val)
c.2654A>T (p.Asp885Val)
c.956A>T (p.Asp319Val)
c.877-1658A>T (n.877-1658A>T)
c.3005A>T (p.Asp1002Val)
c.3061-1658A>T (n.3061-1658A>T)
c.2726A>T (p.Asp909Val)
c.2731-1658A>T (n.2731-1658A>T)
c.1808A>T (p.Asp603Val)
n.3359A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51944212T>CCA388030193ATP7Bc.*894-1658A>G (n.*894-1658A>G)
c.*1884A>G (n.*1884A>G)
c.2519A>G (p.Asp840Gly)
c.3140A>G (p.Asp1047Gly)
c.2807A>G (p.Asp936Gly)
c.2888A>G (p.Asp963Gly)
c.2906A>G (p.Asp969Gly)
n.3279A>G
n.3503A>G
c.2075A>G (p.Asp692Gly)
c.1850A>G (p.Asp617Gly)
c.2945A>G (p.Asp982Gly)
n.360A>G
c.1022-1658A>G
c.*241A>G (n.*241A>G)
n.3884A>G
n.2485A>G
c.2996A>G (p.Asp999Gly)
n.486A>G
c.3044A>G (p.Asp1015Gly)
c.3104A>G (p.Asp1035Gly)
c.2654A>G (p.Asp885Gly)
c.956A>G (p.Asp319Gly)
c.877-1658A>G (n.877-1658A>G)
c.3005A>G (p.Asp1002Gly)
c.3061-1658A>G (n.3061-1658A>G)
c.2726A>G (p.Asp909Gly)
c.2731-1658A>G (n.2731-1658A>G)
c.1808A>G (p.Asp603Gly)
n.3359A>G
13g.51944212T>GCA388030194ATP7Bc.*894-1658A>C (n.*894-1658A>C)
c.*1884A>C (n.*1884A>C)
c.2519A>C (p.Asp840Ala)
c.3140A>C (p.Asp1047Ala)
c.2807A>C (p.Asp936Ala)
c.2888A>C (p.Asp963Ala)
c.2906A>C (p.Asp969Ala)
n.3279A>C
n.3503A>C
c.2075A>C (p.Asp692Ala)
c.1850A>C (p.Asp617Ala)
c.2945A>C (p.Asp982Ala)
n.360A>C
c.1022-1658A>C
c.*241A>C (n.*241A>C)
n.3884A>C
n.2485A>C
c.2996A>C (p.Asp999Ala)
n.486A>C
c.3044A>C (p.Asp1015Ala)
c.3104A>C (p.Asp1035Ala)
c.2654A>C (p.Asp885Ala)
c.956A>C (p.Asp319Ala)
c.877-1658A>C (n.877-1658A>C)
c.3005A>C (p.Asp1002Ala)
c.3061-1658A>C (n.3061-1658A>C)
c.2726A>C (p.Asp909Ala)
c.2731-1658A>C (n.2731-1658A>C)
c.1808A>C (p.Asp603Ala)
n.3359A>C
13g.51944212T=CA2091564007ATP7Bc.*894-1658A= (n.*894-1658A=)
c.*1884A= (n.*1884A=)
c.2519A= (p.Asp840=)
c.3140A= (p.Asp1047=)
c.2807A= (p.Asp936=)
c.2888A= (p.Asp963=)
c.2906A= (p.Asp969=)
n.3279A=
n.3503A=
c.2075A= (p.Asp692=)
c.1850A= (p.Asp617=)
c.2945A= (p.Asp982=)
n.360A=
c.1022-1658A=
c.*241A= (n.*241A=)
n.3884A=
n.2485A=
c.2996A= (p.Asp999=)
n.486A=
c.3044A= (p.Asp1015=)
c.3104A= (p.Asp1035=)
c.2654A= (p.Asp885=)
c.956A= (p.Asp319=)
c.877-1658A= (n.877-1658A=)
c.3005A= (p.Asp1002=)
c.3061-1658A= (n.3061-1658A=)
c.2726A= (p.Asp909=)
c.2731-1658A= (n.2731-1658A=)
c.1808A= (p.Asp603=)
n.3359A=
13g.51944212dupCA2091564004ATP7Bc.*894-1658dup (n.*894-1658dup)
c.*1884dup (n.*1884dup)
c.2519dup (p.Asp840GlufsTer22)
c.3140dup (p.Asp1047GlufsTer22)
c.2807dup (p.Asp936GlufsTer22)
c.2888dup (p.Asp963GlufsTer22)
c.2906dup (p.Asp969GlufsTer22)
n.3279dup
n.3503dup
c.2075dup (p.Asp692GlufsTer22)
c.1850dup (p.Asp617GlufsTer22)
c.2945dup (p.Asp982GlufsTer22)
n.360dup
c.1022-1658dup
c.*241dup (n.*241dup)
n.3884dup
n.2485dup
c.2996dup (p.Asp999GlufsTer22)
n.486dup
c.3044dup (p.Asp1015GlufsTer22)
c.3104dup (p.Asp1035GlufsTer22)
c.2654dup (p.Asp885GlufsTer22)
c.956dup (p.Asp319GlufsTer22)
c.877-1658dup (n.877-1658dup)
c.3005dup (p.Asp1002GlufsTer22)
c.3061-1658dup (n.3061-1658dup)
c.2726dup (p.Asp909GlufsTer22)
c.2731-1658dup (n.2731-1658dup)
c.1808dup (p.Asp603GlufsTer22)
n.3359dup
 dbSNP
13g.51944213C>ACA388030195ATP7Bc.*894-1659G>T (n.*894-1659G>T)
c.*1883G>T (n.*1883G>T)
c.2518G>T (p.Asp840Tyr)
c.3139G>T (p.Asp1047Tyr)
c.2806G>T (p.Asp936Tyr)
c.2887G>T (p.Asp963Tyr)
c.2905G>T (p.Asp969Tyr)
n.3278G>T
n.3502G>T
c.2074G>T (p.Asp692Tyr)
c.1849G>T (p.Asp617Tyr)
c.2944G>T (p.Asp982Tyr)
n.359G>T
c.1022-1659G>T
c.*240G>T (n.*240G>T)
n.3883G>T
n.2484G>T
c.2995G>T (p.Asp999Tyr)
n.485G>T
c.3043G>T (p.Asp1015Tyr)
c.3103G>T (p.Asp1035Tyr)
c.2653G>T (p.Asp885Tyr)
c.955G>T (p.Asp319Tyr)
c.877-1659G>T (n.877-1659G>T)
c.3004G>T (p.Asp1002Tyr)
c.3061-1659G>T (n.3061-1659G>T)
c.2725G>T (p.Asp909Tyr)
c.2731-1659G>T (n.2731-1659G>T)
c.1807G>T (p.Asp603Tyr)
n.3358G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51944213C=CA2091564017ATP7Bc.*894-1659G= (n.*894-1659G=)
c.*1883G= (n.*1883G=)
c.2518G= (p.Asp840=)
c.3139G= (p.Asp1047=)
c.2806G= (p.Asp936=)
c.2887G= (p.Asp963=)
c.2905G= (p.Asp969=)
n.3278G=
n.3502G=
c.2074G= (p.Asp692=)
c.1849G= (p.Asp617=)
c.2944G= (p.Asp982=)
n.359G=
c.1022-1659G=
c.*240G= (n.*240G=)
n.3883G=
n.2484G=
c.2995G= (p.Asp999=)
n.485G=
c.3043G= (p.Asp1015=)
c.3103G= (p.Asp1035=)
c.2653G= (p.Asp885=)
c.955G= (p.Asp319=)
c.877-1659G= (n.877-1659G=)
c.3004G= (p.Asp1002=)
c.3061-1659G= (n.3061-1659G=)
c.2725G= (p.Asp909=)
c.2731-1659G= (n.2731-1659G=)
c.1807G= (p.Asp603=)
n.3358G=
13g.51944213C>GCA388030197ATP7Bc.*894-1659G>C (n.*894-1659G>C)
c.*1883G>C (n.*1883G>C)
c.2518G>C (p.Asp840His)
c.3139G>C (p.Asp1047His)
c.2806G>C (p.Asp936His)
c.2887G>C (p.Asp963His)
c.2905G>C (p.Asp969His)
n.3278G>C
n.3502G>C
c.2074G>C (p.Asp692His)
c.1849G>C (p.Asp617His)
c.2944G>C (p.Asp982His)
n.359G>C
c.1022-1659G>C
c.*240G>C (n.*240G>C)
n.3883G>C
n.2484G>C
c.2995G>C (p.Asp999His)
n.485G>C
c.3043G>C (p.Asp1015His)
c.3103G>C (p.Asp1035His)
c.2653G>C (p.Asp885His)
c.955G>C (p.Asp319His)
c.877-1659G>C (n.877-1659G>C)
c.3004G>C (p.Asp1002His)
c.3061-1659G>C (n.3061-1659G>C)
c.2725G>C (p.Asp909His)
c.2731-1659G>C (n.2731-1659G>C)
c.1807G>C (p.Asp603His)
n.3358G>C
13g.51944213C>TCA388030198ATP7Bc.*894-1659G>A (n.*894-1659G>A)
c.*1883G>A (n.*1883G>A)
c.2518G>A (p.Asp840Asn)
c.3139G>A (p.Asp1047Asn)
c.2806G>A (p.Asp936Asn)
c.2887G>A (p.Asp963Asn)
c.2905G>A (p.Asp969Asn)
n.3278G>A
n.3502G>A
c.2074G>A (p.Asp692Asn)
c.1849G>A (p.Asp617Asn)
c.2944G>A (p.Asp982Asn)
n.359G>A
c.1022-1659G>A
c.*240G>A (n.*240G>A)
n.3883G>A
n.2484G>A
c.2995G>A (p.Asp999Asn)
n.485G>A
c.3043G>A (p.Asp1015Asn)
c.3103G>A (p.Asp1035Asn)
c.2653G>A (p.Asp885Asn)
c.955G>A (p.Asp319Asn)
c.877-1659G>A (n.877-1659G>A)
c.3004G>A (p.Asp1002Asn)
c.3061-1659G>A (n.3061-1659G>A)
c.2725G>A (p.Asp909Asn)
c.2731-1659G>A (n.2731-1659G>A)
c.1807G>A (p.Asp603Asn)
n.3358G>A
 dbSNP gnomAD v3 gnomAD v4
13g.51944214C>ACA483894718ATP7Bc.*894-1660G>T (n.*894-1660G>T)
c.*1882G>T (n.*1882G>T)
c.2517G>T (p.Gly839=)
c.3138G>T (p.Gly1046=)
c.2805G>T (p.Gly935=)
c.2886G>T (p.Gly962=)
c.2904G>T (p.Gly968=)
n.3277G>T
n.3501G>T
c.2073G>T (p.Gly691=)
c.1848G>T (p.Gly616=)
c.2943G>T (p.Gly981=)
n.358G>T
c.1022-1660G>T
c.*239G>T (n.*239G>T)
n.3882G>T
n.2483G>T
c.2994G>T (p.Gly998=)
n.484G>T
c.3042G>T (p.Gly1014=)
c.3102G>T (p.Gly1034=)
c.2652G>T (p.Gly884=)
c.954G>T (p.Gly318=)
c.877-1660G>T (n.877-1660G>T)
c.3003G>T (p.Gly1001=)
c.3061-1660G>T (n.3061-1660G>T)
c.2724G>T (p.Gly908=)
c.2731-1660G>T (n.2731-1660G>T)
c.1806G>T (p.Gly602=)
n.3357G>T
13g.51944214C>GCA483894719ATP7Bc.*894-1660G>C (n.*894-1660G>C)
c.*1882G>C (n.*1882G>C)
c.2517G>C (p.Gly839=)
c.3138G>C (p.Gly1046=)
c.2805G>C (p.Gly935=)
c.2886G>C (p.Gly962=)
c.2904G>C (p.Gly968=)
n.3277G>C
n.3501G>C
c.2073G>C (p.Gly691=)
c.1848G>C (p.Gly616=)
c.2943G>C (p.Gly981=)
n.358G>C
c.1022-1660G>C
c.*239G>C (n.*239G>C)
n.3882G>C
n.2483G>C
c.2994G>C (p.Gly998=)
n.484G>C
c.3042G>C (p.Gly1014=)
c.3102G>C (p.Gly1034=)
c.2652G>C (p.Gly884=)
c.954G>C (p.Gly318=)
c.877-1660G>C (n.877-1660G>C)
c.3003G>C (p.Gly1001=)
c.3061-1660G>C (n.3061-1660G>C)
c.2724G>C (p.Gly908=)
c.2731-1660G>C (n.2731-1660G>C)
c.1806G>C (p.Gly602=)
n.3357G>C
13g.51944214C>TCA483894720ATP7Bc.*894-1660G>A (n.*894-1660G>A)
c.*1882G>A (n.*1882G>A)
c.2517G>A (p.Gly839=)
c.3138G>A (p.Gly1046=)
c.2805G>A (p.Gly935=)
c.2886G>A (p.Gly962=)
c.2904G>A (p.Gly968=)
n.3277G>A
n.3501G>A
c.2073G>A (p.Gly691=)
c.1848G>A (p.Gly616=)
c.2943G>A (p.Gly981=)
n.358G>A
c.1022-1660G>A
c.*239G>A (n.*239G>A)
n.3882G>A
n.2483G>A
c.2994G>A (p.Gly998=)
n.484G>A
c.3042G>A (p.Gly1014=)
c.3102G>A (p.Gly1034=)
c.2652G>A (p.Gly884=)
c.954G>A (p.Gly318=)
c.877-1660G>A (n.877-1660G>A)
c.3003G>A (p.Gly1001=)
c.3061-1660G>A (n.3061-1660G>A)
c.2724G>A (p.Gly908=)
c.2731-1660G>A (n.2731-1660G>A)
c.1806G>A (p.Gly602=)
n.3357G>A
 ClinVar
13g.51944215C>ACA388030203ATP7Bc.*894-1661G>T (n.*894-1661G>T)
c.*1881G>T (n.*1881G>T)
c.2516G>T (p.Gly839Val)
c.3137G>T (p.Gly1046Val)
c.2804G>T (p.Gly935Val)
c.2885G>T (p.Gly962Val)
c.2903G>T (p.Gly968Val)
n.3276G>T
n.3500G>T
c.2072G>T (p.Gly691Val)
c.1847G>T (p.Gly616Val)
c.2942G>T (p.Gly981Val)
n.357G>T
c.1022-1661G>T
c.*238G>T (n.*238G>T)
n.3881G>T
n.2482G>T
c.2993G>T (p.Gly998Val)
n.483G>T
c.3041G>T (p.Gly1014Val)
c.3101G>T (p.Gly1034Val)
c.2651G>T (p.Gly884Val)
c.953G>T (p.Gly318Val)
c.877-1661G>T (n.877-1661G>T)
c.3002G>T (p.Gly1001Val)
c.3061-1661G>T (n.3061-1661G>T)
c.2723G>T (p.Gly908Val)
c.2731-1661G>T (n.2731-1661G>T)
c.1805G>T (p.Gly602Val)
n.3356G>T
13g.51944215C>GCA388030206ATP7Bc.*894-1661G>C (n.*894-1661G>C)
c.*1881G>C (n.*1881G>C)
c.2516G>C (p.Gly839Ala)
c.3137G>C (p.Gly1046Ala)
c.2804G>C (p.Gly935Ala)
c.2885G>C (p.Gly962Ala)
c.2903G>C (p.Gly968Ala)
n.3276G>C
n.3500G>C
c.2072G>C (p.Gly691Ala)
c.1847G>C (p.Gly616Ala)
c.2942G>C (p.Gly981Ala)
n.357G>C
c.1022-1661G>C
c.*238G>C (n.*238G>C)
n.3881G>C
n.2482G>C
c.2993G>C (p.Gly998Ala)
n.483G>C
c.3041G>C (p.Gly1014Ala)
c.3101G>C (p.Gly1034Ala)
c.2651G>C (p.Gly884Ala)
c.953G>C (p.Gly318Ala)
c.877-1661G>C (n.877-1661G>C)
c.3002G>C (p.Gly1001Ala)
c.3061-1661G>C (n.3061-1661G>C)
c.2723G>C (p.Gly908Ala)
c.2731-1661G>C (n.2731-1661G>C)
c.1805G>C (p.Gly602Ala)
n.3356G>C
 gnomAD v4
13g.51944215C>TCA388030207ATP7Bc.*894-1661G>A (n.*894-1661G>A)
c.*1881G>A (n.*1881G>A)
c.2516G>A (p.Gly839Glu)
c.3137G>A (p.Gly1046Glu)
c.2804G>A (p.Gly935Glu)
c.2885G>A (p.Gly962Glu)
c.2903G>A (p.Gly968Glu)
n.3276G>A
n.3500G>A
c.2072G>A (p.Gly691Glu)
c.1847G>A (p.Gly616Glu)
c.2942G>A (p.Gly981Glu)
n.357G>A
c.1022-1661G>A
c.*238G>A (n.*238G>A)
n.3881G>A
n.2482G>A
c.2993G>A (p.Gly998Glu)
n.483G>A
c.3041G>A (p.Gly1014Glu)
c.3101G>A (p.Gly1034Glu)
c.2651G>A (p.Gly884Glu)
c.953G>A (p.Gly318Glu)
c.877-1661G>A (n.877-1661G>A)
c.3002G>A (p.Gly1001Glu)
c.3061-1661G>A (n.3061-1661G>A)
c.2723G>A (p.Gly908Glu)
c.2731-1661G>A (n.2731-1661G>A)
c.1805G>A (p.Gly602Glu)
n.3356G>A
 gnomAD v4
13g.51944216C>ACA388030214ATP7Bc.*894-1662G>T (n.*894-1662G>T)
c.*1880G>T (n.*1880G>T)
c.2515G>T (p.Gly839Trp)
c.3136G>T (p.Gly1046Trp)
c.2803G>T (p.Gly935Trp)
c.2884G>T (p.Gly962Trp)
c.2902G>T (p.Gly968Trp)
n.3275G>T
n.3499G>T
c.2071G>T (p.Gly691Trp)
c.1846G>T (p.Gly616Trp)
c.2941G>T (p.Gly981Trp)
n.356G>T
c.1022-1662G>T
c.*237G>T (n.*237G>T)
n.3880G>T
n.2481G>T
c.2992G>T (p.Gly998Trp)
n.482G>T
c.3040G>T (p.Gly1014Trp)
c.3100G>T (p.Gly1034Trp)
c.2650G>T (p.Gly884Trp)
c.952G>T (p.Gly318Trp)
c.877-1662G>T (n.877-1662G>T)
c.3001G>T (p.Gly1001Trp)
c.3061-1662G>T (n.3061-1662G>T)
c.2722G>T (p.Gly908Trp)
c.2731-1662G>T (n.2731-1662G>T)
c.1804G>T (p.Gly602Trp)
n.3355G>T
13g.51944216C>GCA388030215ATP7Bc.*894-1662G>C (n.*894-1662G>C)
c.*1880G>C (n.*1880G>C)
c.2515G>C (p.Gly839Arg)
c.3136G>C (p.Gly1046Arg)
c.2803G>C (p.Gly935Arg)
c.2884G>C (p.Gly962Arg)
c.2902G>C (p.Gly968Arg)
n.3275G>C
n.3499G>C
c.2071G>C (p.Gly691Arg)
c.1846G>C (p.Gly616Arg)
c.2941G>C (p.Gly981Arg)
n.356G>C
c.1022-1662G>C
c.*237G>C (n.*237G>C)
n.3880G>C
n.2481G>C
c.2992G>C (p.Gly998Arg)
n.482G>C
c.3040G>C (p.Gly1014Arg)
c.3100G>C (p.Gly1034Arg)
c.2650G>C (p.Gly884Arg)
c.952G>C (p.Gly318Arg)
c.877-1662G>C (n.877-1662G>C)
c.3001G>C (p.Gly1001Arg)
c.3061-1662G>C (n.3061-1662G>C)
c.2722G>C (p.Gly908Arg)
c.2731-1662G>C (n.2731-1662G>C)
c.1804G>C (p.Gly602Arg)
n.3355G>C
13g.51944216C>TCA388030208ATP7Bc.*894-1662G>A (n.*894-1662G>A)
c.*1880G>A (n.*1880G>A)
c.2515G>A (p.Gly839Arg)
c.3136G>A (p.Gly1046Arg)
c.2803G>A (p.Gly935Arg)
c.2884G>A (p.Gly962Arg)
c.2902G>A (p.Gly968Arg)
n.3275G>A
n.3499G>A
c.2071G>A (p.Gly691Arg)
c.1846G>A (p.Gly616Arg)
c.2941G>A (p.Gly981Arg)
n.356G>A
c.1022-1662G>A
c.*237G>A (n.*237G>A)
n.3880G>A
n.2481G>A
c.2992G>A (p.Gly998Arg)
n.482G>A
c.3040G>A (p.Gly1014Arg)
c.3100G>A (p.Gly1034Arg)
c.2650G>A (p.Gly884Arg)
c.952G>A (p.Gly318Arg)
c.877-1662G>A (n.877-1662G>A)
c.3001G>A (p.Gly1001Arg)
c.3061-1662G>A (n.3061-1662G>A)
c.2722G>A (p.Gly908Arg)
c.2731-1662G>A (n.2731-1662G>A)
c.1804G>A (p.Gly602Arg)
n.3355G>A
13g.51944217C>ACA483894721ATP7Bc.*894-1663G>T (n.*894-1663G>T)
c.*1879G>T (n.*1879G>T)
c.2514G>T (p.Leu838=)
c.3135G>T (p.Leu1045=)
c.2802G>T (p.Leu934=)
c.2883G>T (p.Leu961=)
c.2901G>T (p.Leu967=)
n.3274G>T
n.3498G>T
c.2070G>T (p.Leu690=)
c.1845G>T (p.Leu615=)
c.2940G>T (p.Leu980=)
n.355G>T
c.1022-1663G>T
c.*236G>T (n.*236G>T)
n.3879G>T
n.2480G>T
c.2991G>T (p.Leu997=)
n.481G>T
c.3039G>T (p.Leu1013=)
c.3099G>T (p.Leu1033=)
c.2649G>T (p.Leu883=)
c.951G>T (p.Leu317=)
c.877-1663G>T (n.877-1663G>T)
c.3000G>T (p.Leu1000=)
c.3061-1663G>T (n.3061-1663G>T)
c.2721G>T (p.Leu907=)
c.2731-1663G>T (n.2731-1663G>T)
c.1803G>T (p.Leu601=)
n.3354G>T
 gnomAD v4
13g.51944217C>GCA483894722ATP7Bc.*894-1663G>C (n.*894-1663G>C)
c.*1879G>C (n.*1879G>C)
c.2514G>C (p.Leu838=)
c.3135G>C (p.Leu1045=)
c.2802G>C (p.Leu934=)
c.2883G>C (p.Leu961=)
c.2901G>C (p.Leu967=)
n.3274G>C
n.3498G>C
c.2070G>C (p.Leu690=)
c.1845G>C (p.Leu615=)
c.2940G>C (p.Leu980=)
n.355G>C
c.1022-1663G>C
c.*236G>C (n.*236G>C)
n.3879G>C
n.2480G>C
c.2991G>C (p.Leu997=)
n.481G>C
c.3039G>C (p.Leu1013=)
c.3099G>C (p.Leu1033=)
c.2649G>C (p.Leu883=)
c.951G>C (p.Leu317=)
c.877-1663G>C (n.877-1663G>C)
c.3000G>C (p.Leu1000=)
c.3061-1663G>C (n.3061-1663G>C)
c.2721G>C (p.Leu907=)
c.2731-1663G>C (n.2731-1663G>C)
c.1803G>C (p.Leu601=)
n.3354G>C
13g.51944217C>TCA483894723ATP7Bc.*894-1663G>A (n.*894-1663G>A)
c.*1879G>A (n.*1879G>A)
c.2514G>A (p.Leu838=)
c.3135G>A (p.Leu1045=)
c.2802G>A (p.Leu934=)
c.2883G>A (p.Leu961=)
c.2901G>A (p.Leu967=)
n.3274G>A
n.3498G>A
c.2070G>A (p.Leu690=)
c.1845G>A (p.Leu615=)
c.2940G>A (p.Leu980=)
n.355G>A
c.1022-1663G>A
c.*236G>A (n.*236G>A)
n.3879G>A
n.2480G>A
c.2991G>A (p.Leu997=)
n.481G>A
c.3039G>A (p.Leu1013=)
c.3099G>A (p.Leu1033=)
c.2649G>A (p.Leu883=)
c.951G>A (p.Leu317=)
c.877-1663G>A (n.877-1663G>A)
c.3000G>A (p.Leu1000=)
c.3061-1663G>A (n.3061-1663G>A)
c.2721G>A (p.Leu907=)
c.2731-1663G>A (n.2731-1663G>A)
c.1803G>A (p.Leu601=)
n.3354G>A
13g.51944218A>CCA388030218ATP7Bc.*894-1664T>G (n.*894-1664T>G)
c.*1878T>G (n.*1878T>G)
c.2513T>G (p.Leu838Arg)
c.3134T>G (p.Leu1045Arg)
c.2801T>G (p.Leu934Arg)
c.2882T>G (p.Leu961Arg)
c.2900T>G (p.Leu967Arg)
n.3273T>G
n.3497T>G
c.2069T>G (p.Leu690Arg)
c.1844T>G (p.Leu615Arg)
c.2939T>G (p.Leu980Arg)
n.354T>G
c.1022-1664T>G
c.*235T>G (n.*235T>G)
n.3878T>G
n.2479T>G
c.2990T>G (p.Leu997Arg)
n.480T>G
c.3038T>G (p.Leu1013Arg)
c.3098T>G (p.Leu1033Arg)
c.2648T>G (p.Leu883Arg)
c.950T>G (p.Leu317Arg)
c.877-1664T>G (n.877-1664T>G)
c.2999T>G (p.Leu1000Arg)
c.3061-1664T>G (n.3061-1664T>G)
c.2720T>G (p.Leu907Arg)
c.2731-1664T>G (n.2731-1664T>G)
c.1802T>G (p.Leu601Arg)
n.3353T>G
13g.51944218A>GCA388030219ATP7Bc.*894-1664T>C (n.*894-1664T>C)
c.*1878T>C (n.*1878T>C)
c.2513T>C (p.Leu838Pro)
c.3134T>C (p.Leu1045Pro)
c.2801T>C (p.Leu934Pro)
c.2882T>C (p.Leu961Pro)
c.2900T>C (p.Leu967Pro)
n.3273T>C
n.3497T>C
c.2069T>C (p.Leu690Pro)
c.1844T>C (p.Leu615Pro)
c.2939T>C (p.Leu980Pro)
n.354T>C
c.1022-1664T>C
c.*235T>C (n.*235T>C)
n.3878T>C
n.2479T>C
c.2990T>C (p.Leu997Pro)
n.480T>C
c.3038T>C (p.Leu1013Pro)
c.3098T>C (p.Leu1033Pro)
c.2648T>C (p.Leu883Pro)
c.950T>C (p.Leu317Pro)
c.877-1664T>C (n.877-1664T>C)
c.2999T>C (p.Leu1000Pro)
c.3061-1664T>C (n.3061-1664T>C)
c.2720T>C (p.Leu907Pro)
c.2731-1664T>C (n.2731-1664T>C)
c.1802T>C (p.Leu601Pro)
n.3353T>C
13g.51944218A>TCA388030221ATP7Bc.*894-1664T>A (n.*894-1664T>A)
c.*1878T>A (n.*1878T>A)
c.2513T>A (p.Leu838Gln)
c.3134T>A (p.Leu1045Gln)
c.2801T>A (p.Leu934Gln)
c.2882T>A (p.Leu961Gln)
c.2900T>A (p.Leu967Gln)
n.3273T>A
n.3497T>A
c.2069T>A (p.Leu690Gln)
c.1844T>A (p.Leu615Gln)
c.2939T>A (p.Leu980Gln)
n.354T>A
c.1022-1664T>A
c.*235T>A (n.*235T>A)
n.3878T>A
n.2479T>A
c.2990T>A (p.Leu997Gln)
n.480T>A
c.3038T>A (p.Leu1013Gln)
c.3098T>A (p.Leu1033Gln)
c.2648T>A (p.Leu883Gln)
c.950T>A (p.Leu317Gln)
c.877-1664T>A (n.877-1664T>A)
c.2999T>A (p.Leu1000Gln)
c.3061-1664T>A (n.3061-1664T>A)
c.2720T>A (p.Leu907Gln)
c.2731-1664T>A (n.2731-1664T>A)
c.1802T>A (p.Leu601Gln)
n.3353T>A
13g.51944219G>ACA483894724ATP7Bc.*894-1665C>T (n.*894-1665C>T)
c.*1877C>T (n.*1877C>T)
c.2512C>T (p.Leu838=)
c.3133C>T (p.Leu1045=)
c.2800C>T (p.Leu934=)
c.2881C>T (p.Leu961=)
c.2899C>T (p.Leu967=)
n.3272C>T
n.3496C>T
c.2068C>T (p.Leu690=)
c.1843C>T (p.Leu615=)
c.2938C>T (p.Leu980=)
n.353C>T
c.1022-1665C>T
c.*234C>T (n.*234C>T)
n.3877C>T
n.2478C>T
c.2989C>T (p.Leu997=)
n.479C>T
c.3037C>T (p.Leu1013=)
c.3097C>T (p.Leu1033=)
c.2647C>T (p.Leu883=)
c.949C>T (p.Leu317=)
c.877-1665C>T (n.877-1665C>T)
c.2998C>T (p.Leu1000=)
c.3061-1665C>T (n.3061-1665C>T)
c.2719C>T (p.Leu907=)
c.2731-1665C>T (n.2731-1665C>T)
c.1801C>T (p.Leu601=)
n.3352C>T
13g.51944219G>CCA388030223ATP7Bc.*894-1665C>G (n.*894-1665C>G)
c.*1877C>G (n.*1877C>G)
c.2512C>G (p.Leu838Val)
c.3133C>G (p.Leu1045Val)
c.2800C>G (p.Leu934Val)
c.2881C>G (p.Leu961Val)
c.2899C>G (p.Leu967Val)
n.3272C>G
n.3496C>G
c.2068C>G (p.Leu690Val)
c.1843C>G (p.Leu615Val)
c.2938C>G (p.Leu980Val)
n.353C>G
c.1022-1665C>G
c.*234C>G (n.*234C>G)
n.3877C>G
n.2478C>G
c.2989C>G (p.Leu997Val)
n.479C>G
c.3037C>G (p.Leu1013Val)
c.3097C>G (p.Leu1033Val)
c.2647C>G (p.Leu883Val)
c.949C>G (p.Leu317Val)
c.877-1665C>G (n.877-1665C>G)
c.2998C>G (p.Leu1000Val)
c.3061-1665C>G (n.3061-1665C>G)
c.2719C>G (p.Leu907Val)
c.2731-1665C>G (n.2731-1665C>G)
c.1801C>G (p.Leu601Val)
n.3352C>G
 ClinVar gnomAD v4
13g.51944219G>TCA388030225ATP7Bc.*894-1665C>A (n.*894-1665C>A)
c.*1877C>A (n.*1877C>A)
c.2512C>A (p.Leu838Met)
c.3133C>A (p.Leu1045Met)
c.2800C>A (p.Leu934Met)
c.2881C>A (p.Leu961Met)
c.2899C>A (p.Leu967Met)
n.3272C>A
n.3496C>A
c.2068C>A (p.Leu690Met)
c.1843C>A (p.Leu615Met)
c.2938C>A (p.Leu980Met)
n.353C>A
c.1022-1665C>A
c.*234C>A (n.*234C>A)
n.3877C>A
n.2478C>A
c.2989C>A (p.Leu997Met)
n.479C>A
c.3037C>A (p.Leu1013Met)
c.3097C>A (p.Leu1033Met)
c.2647C>A (p.Leu883Met)
c.949C>A (p.Leu317Met)
c.877-1665C>A (n.877-1665C>A)
c.2998C>A (p.Leu1000Met)
c.3061-1665C>A (n.3061-1665C>A)
c.2719C>A (p.Leu907Met)
c.2731-1665C>A (n.2731-1665C>A)
c.1801C>A (p.Leu601Met)
n.3352C>A
13g.51944220C>ACA483894725ATP7Bc.*894-1666G>T (n.*894-1666G>T)
c.*1876G>T (n.*1876G>T)
c.2511G>T (p.Leu837=)
c.3132G>T (p.Leu1044=)
c.2799G>T (p.Leu933=)
c.2880G>T (p.Leu960=)
c.2898G>T (p.Leu966=)
n.3271G>T
n.3495G>T
c.2067G>T (p.Leu689=)
c.1842G>T (p.Leu614=)
c.2937G>T (p.Leu979=)
n.352G>T
c.1022-1666G>T
c.*233G>T (n.*233G>T)
n.3876G>T
n.2477G>T
c.2988G>T (p.Leu996=)
n.478G>T
c.3036G>T (p.Leu1012=)
c.3096G>T (p.Leu1032=)
c.2646G>T (p.Leu882=)
c.948G>T (p.Leu316=)
c.877-1666G>T (n.877-1666G>T)
c.2997G>T (p.Leu999=)
c.3061-1666G>T (n.3061-1666G>T)
c.2718G>T (p.Leu906=)
c.2731-1666G>T (n.2731-1666G>T)
c.1800G>T (p.Leu600=)
n.3351G>T
 ClinVar dbSNP
13g.51944220C=CA2091564020ATP7Bc.*894-1666G= (n.*894-1666G=)
c.*1876G= (n.*1876G=)
c.2511G= (p.Leu837=)
c.3132G= (p.Leu1044=)
c.2799G= (p.Leu933=)
c.2880G= (p.Leu960=)
c.2898G= (p.Leu966=)
n.3271G=
n.3495G=
c.2067G= (p.Leu689=)
c.1842G= (p.Leu614=)
c.2937G= (p.Leu979=)
n.352G=
c.1022-1666G=
c.*233G= (n.*233G=)
n.3876G=
n.2477G=
c.2988G= (p.Leu996=)
n.478G=
c.3036G= (p.Leu1012=)
c.3096G= (p.Leu1032=)
c.2646G= (p.Leu882=)
c.948G= (p.Leu316=)
c.877-1666G= (n.877-1666G=)
c.2997G= (p.Leu999=)
c.3061-1666G= (n.3061-1666G=)
c.2718G= (p.Leu906=)
c.2731-1666G= (n.2731-1666G=)
c.1800G= (p.Leu600=)
n.3351G=
13g.51944220C>GCA483894726ATP7Bc.*894-1666G>C (n.*894-1666G>C)
c.*1876G>C (n.*1876G>C)
c.2511G>C (p.Leu837=)
c.3132G>C (p.Leu1044=)
c.2799G>C (p.Leu933=)
c.2880G>C (p.Leu960=)
c.2898G>C (p.Leu966=)
n.3271G>C
n.3495G>C
c.2067G>C (p.Leu689=)
c.1842G>C (p.Leu614=)
c.2937G>C (p.Leu979=)
n.352G>C
c.1022-1666G>C
c.*233G>C (n.*233G>C)
n.3876G>C
n.2477G>C
c.2988G>C (p.Leu996=)
n.478G>C
c.3036G>C (p.Leu1012=)
c.3096G>C (p.Leu1032=)
c.2646G>C (p.Leu882=)
c.948G>C (p.Leu316=)
c.877-1666G>C (n.877-1666G>C)
c.2997G>C (p.Leu999=)
c.3061-1666G>C (n.3061-1666G>C)
c.2718G>C (p.Leu906=)
c.2731-1666G>C (n.2731-1666G>C)
c.1800G>C (p.Leu600=)
n.3351G>C
 gnomAD v4
13g.51944220C>TCA483894727ATP7Bc.*894-1666G>A (n.*894-1666G>A)
c.*1876G>A (n.*1876G>A)
c.2511G>A (p.Leu837=)
c.3132G>A (p.Leu1044=)
c.2799G>A (p.Leu933=)
c.2880G>A (p.Leu960=)
c.2898G>A (p.Leu966=)
n.3271G>A
n.3495G>A
c.2067G>A (p.Leu689=)
c.1842G>A (p.Leu614=)
c.2937G>A (p.Leu979=)
n.352G>A
c.1022-1666G>A
c.*233G>A (n.*233G>A)
n.3876G>A
n.2477G>A
c.2988G>A (p.Leu996=)
n.478G>A
c.3036G>A (p.Leu1012=)
c.3096G>A (p.Leu1032=)
c.2646G>A (p.Leu882=)
c.948G>A (p.Leu316=)
c.877-1666G>A (n.877-1666G>A)
c.2997G>A (p.Leu999=)
c.3061-1666G>A (n.3061-1666G>A)
c.2718G>A (p.Leu906=)
c.2731-1666G>A (n.2731-1666G>A)
c.1800G>A (p.Leu600=)
n.3351G>A
 gnomAD v4
13g.51944221A>CCA388030227ATP7Bc.*894-1667T>G (n.*894-1667T>G)
c.*1875T>G (n.*1875T>G)
c.2510T>G (p.Leu837Arg)
c.3131T>G (p.Leu1044Arg)
c.2798T>G (p.Leu933Arg)
c.2879T>G (p.Leu960Arg)
c.2897T>G (p.Leu966Arg)
n.3270T>G
n.3494T>G
c.2066T>G (p.Leu689Arg)
c.1841T>G (p.Leu614Arg)
c.2936T>G (p.Leu979Arg)
n.351T>G
c.1022-1667T>G
c.*232T>G (n.*232T>G)
n.3875T>G
n.2476T>G
c.2987T>G (p.Leu996Arg)
n.477T>G
c.3035T>G (p.Leu1012Arg)
c.3095T>G (p.Leu1032Arg)
c.2645T>G (p.Leu882Arg)
c.947T>G (p.Leu316Arg)
c.877-1667T>G (n.877-1667T>G)
c.2996T>G (p.Leu999Arg)
c.3061-1667T>G (n.3061-1667T>G)
c.2717T>G (p.Leu906Arg)
c.2731-1667T>G (n.2731-1667T>G)
c.1799T>G (p.Leu600Arg)
n.3350T>G
13g.51944221A>GCA388030241ATP7Bc.*894-1667T>C (n.*894-1667T>C)
c.*1875T>C (n.*1875T>C)
c.2510T>C (p.Leu837Pro)
c.3131T>C (p.Leu1044Pro)
c.2798T>C (p.Leu933Pro)
c.2879T>C (p.Leu960Pro)
c.2897T>C (p.Leu966Pro)
n.3270T>C
n.3494T>C
c.2066T>C (p.Leu689Pro)
c.1841T>C (p.Leu614Pro)
c.2936T>C (p.Leu979Pro)
n.351T>C
c.1022-1667T>C
c.*232T>C (n.*232T>C)
n.3875T>C
n.2476T>C
c.2987T>C (p.Leu996Pro)
n.477T>C
c.3035T>C (p.Leu1012Pro)
c.3095T>C (p.Leu1032Pro)
c.2645T>C (p.Leu882Pro)
c.947T>C (p.Leu316Pro)
c.877-1667T>C (n.877-1667T>C)
c.2996T>C (p.Leu999Pro)
c.3061-1667T>C (n.3061-1667T>C)
c.2717T>C (p.Leu906Pro)
c.2731-1667T>C (n.2731-1667T>C)
c.1799T>C (p.Leu600Pro)
n.3350T>C
13g.51944221A>TCA388030244ATP7Bc.*894-1667T>A (n.*894-1667T>A)
c.*1875T>A (n.*1875T>A)
c.2510T>A (p.Leu837Gln)
c.3131T>A (p.Leu1044Gln)
c.2798T>A (p.Leu933Gln)
c.2879T>A (p.Leu960Gln)
c.2897T>A (p.Leu966Gln)
n.3270T>A
n.3494T>A
c.2066T>A (p.Leu689Gln)
c.1841T>A (p.Leu614Gln)
c.2936T>A (p.Leu979Gln)
n.351T>A
c.1022-1667T>A
c.*232T>A (n.*232T>A)
n.3875T>A
n.2476T>A
c.2987T>A (p.Leu996Gln)
n.477T>A
c.3035T>A (p.Leu1012Gln)
c.3095T>A (p.Leu1032Gln)
c.2645T>A (p.Leu882Gln)
c.947T>A (p.Leu316Gln)
c.877-1667T>A (n.877-1667T>A)
c.2996T>A (p.Leu999Gln)
c.3061-1667T>A (n.3061-1667T>A)
c.2717T>A (p.Leu906Gln)
c.2731-1667T>A (n.2731-1667T>A)
c.1799T>A (p.Leu600Gln)
n.3350T>A
13g.51944222G>ACA483894728ATP7Bc.*894-1668C>T (n.*894-1668C>T)
c.*1874C>T (n.*1874C>T)
c.2509C>T (p.Leu837=)
c.3130C>T (p.Leu1044=)
c.2797C>T (p.Leu933=)
c.2878C>T (p.Leu960=)
c.2896C>T (p.Leu966=)
n.3269C>T
n.3493C>T
c.2065C>T (p.Leu689=)
c.1840C>T (p.Leu614=)
c.2935C>T (p.Leu979=)
n.350C>T
c.1022-1668C>T
c.*231C>T (n.*231C>T)
n.3874C>T
n.2475C>T
c.2986C>T (p.Leu996=)
n.476C>T
c.3034C>T (p.Leu1012=)
c.3094C>T (p.Leu1032=)
c.2644C>T (p.Leu882=)
c.946C>T (p.Leu316=)
c.877-1668C>T (n.877-1668C>T)
c.2995C>T (p.Leu999=)
c.3061-1668C>T (n.3061-1668C>T)
c.2716C>T (p.Leu906=)
c.2731-1668C>T (n.2731-1668C>T)
c.1798C>T (p.Leu600=)
n.3349C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51944222G>CCA388030248ATP7Bc.*894-1668C>G (n.*894-1668C>G)
c.*1874C>G (n.*1874C>G)
c.2509C>G (p.Leu837Val)
c.3130C>G (p.Leu1044Val)
c.2797C>G (p.Leu933Val)
c.2878C>G (p.Leu960Val)
c.2896C>G (p.Leu966Val)
n.3269C>G
n.3493C>G
c.2065C>G (p.Leu689Val)
c.1840C>G (p.Leu614Val)
c.2935C>G (p.Leu979Val)
n.350C>G
c.1022-1668C>G
c.*231C>G (n.*231C>G)
n.3874C>G
n.2475C>G
c.2986C>G (p.Leu996Val)
n.476C>G
c.3034C>G (p.Leu1012Val)
c.3094C>G (p.Leu1032Val)
c.2644C>G (p.Leu882Val)
c.946C>G (p.Leu316Val)
c.877-1668C>G (n.877-1668C>G)
c.2995C>G (p.Leu999Val)
c.3061-1668C>G (n.3061-1668C>G)
c.2716C>G (p.Leu906Val)
c.2731-1668C>G (n.2731-1668C>G)
c.1798C>G (p.Leu600Val)
n.3349C>G
 gnomAD v4
13g.51944222G=CA2091564023ATP7Bc.*894-1668C= (n.*894-1668C=)
c.*1874C= (n.*1874C=)
c.2509C= (p.Leu837=)
c.3130C= (p.Leu1044=)
c.2797C= (p.Leu933=)
c.2878C= (p.Leu960=)
c.2896C= (p.Leu966=)
n.3269C=
n.3493C=
c.2065C= (p.Leu689=)
c.1840C= (p.Leu614=)
c.2935C= (p.Leu979=)
n.350C=
c.1022-1668C=
c.*231C= (n.*231C=)
n.3874C=
n.2475C=
c.2986C= (p.Leu996=)
n.476C=
c.3034C= (p.Leu1012=)
c.3094C= (p.Leu1032=)
c.2644C= (p.Leu882=)
c.946C= (p.Leu316=)
c.877-1668C= (n.877-1668C=)
c.2995C= (p.Leu999=)
c.3061-1668C= (n.3061-1668C=)
c.2716C= (p.Leu906=)
c.2731-1668C= (n.2731-1668C=)
c.1798C= (p.Leu600=)
n.3349C=
13g.51944222G>TCA388030249ATP7Bc.*894-1668C>A (n.*894-1668C>A)
c.*1874C>A (n.*1874C>A)
c.2509C>A (p.Leu837Met)
c.3130C>A (p.Leu1044Met)
c.2797C>A (p.Leu933Met)
c.2878C>A (p.Leu960Met)
c.2896C>A (p.Leu966Met)
n.3269C>A
n.3493C>A
c.2065C>A (p.Leu689Met)
c.1840C>A (p.Leu614Met)
c.2935C>A (p.Leu979Met)
n.350C>A
c.1022-1668C>A
c.*231C>A (n.*231C>A)
n.3874C>A
n.2475C>A
c.2986C>A (p.Leu996Met)
n.476C>A
c.3034C>A (p.Leu1012Met)
c.3094C>A (p.Leu1032Met)
c.2644C>A (p.Leu882Met)
c.946C>A (p.Leu316Met)
c.877-1668C>A (n.877-1668C>A)
c.2995C>A (p.Leu999Met)
c.3061-1668C>A (n.3061-1668C>A)
c.2716C>A (p.Leu906Met)
c.2731-1668C>A (n.2731-1668C>A)
c.1798C>A (p.Leu600Met)
n.3349C>A
13g.51944223G>ACA6988799ATP7Bc.*894-1669C>T (n.*894-1669C>T)
c.*1873C>T (n.*1873C>T)
c.2508C>T (p.Leu836=)
c.3129C>T (p.Leu1043=)
c.2796C>T (p.Leu932=)
c.2877C>T (p.Leu959=)
c.2895C>T (p.Leu965=)
n.3268C>T
n.3492C>T
c.2064C>T (p.Leu688=)
c.1839C>T (p.Leu613=)
c.2934C>T (p.Leu978=)
n.349C>T
c.1022-1669C>T
c.*230C>T (n.*230C>T)
n.3873C>T
n.2474C>T
c.2985C>T (p.Leu995=)
n.475C>T
c.3033C>T (p.Leu1011=)
c.3093C>T (p.Leu1031=)
c.2643C>T (p.Leu881=)
c.945C>T (p.Leu315=)
c.877-1669C>T (n.877-1669C>T)
c.2994C>T (p.Leu998=)
c.3061-1669C>T (n.3061-1669C>T)
c.2715C>T (p.Leu905=)
c.2731-1669C>T (n.2731-1669C>T)
c.1797C>T (p.Leu599=)
n.3348C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944223G>CCA6988800ATP7Bc.*894-1669C>G (n.*894-1669C>G)
c.*1873C>G (n.*1873C>G)
c.2508C>G (p.Leu836=)
c.3129C>G (p.Leu1043=)
c.2796C>G (p.Leu932=)
c.2877C>G (p.Leu959=)
c.2895C>G (p.Leu965=)
n.3268C>G
n.3492C>G
c.2064C>G (p.Leu688=)
c.1839C>G (p.Leu613=)
c.2934C>G (p.Leu978=)
n.349C>G
c.1022-1669C>G
c.*230C>G (n.*230C>G)
n.3873C>G
n.2474C>G
c.2985C>G (p.Leu995=)
n.475C>G
c.3033C>G (p.Leu1011=)
c.3093C>G (p.Leu1031=)
c.2643C>G (p.Leu881=)
c.945C>G (p.Leu315=)
c.877-1669C>G (n.877-1669C>G)
c.2994C>G (p.Leu998=)
c.3061-1669C>G (n.3061-1669C>G)
c.2715C>G (p.Leu905=)
c.2731-1669C>G (n.2731-1669C>G)
c.1797C>G (p.Leu599=)
n.3348C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944223G=CA2091564026ATP7Bc.*894-1669C= (n.*894-1669C=)
c.*1873C= (n.*1873C=)
c.2508C= (p.Leu836=)
c.3129C= (p.Leu1043=)
c.2796C= (p.Leu932=)
c.2877C= (p.Leu959=)
c.2895C= (p.Leu965=)
n.3268C=
n.3492C=
c.2064C= (p.Leu688=)
c.1839C= (p.Leu613=)
c.2934C= (p.Leu978=)
n.349C=
c.1022-1669C=
c.*230C= (n.*230C=)
n.3873C=
n.2474C=
c.2985C= (p.Leu995=)
n.475C=
c.3033C= (p.Leu1011=)
c.3093C= (p.Leu1031=)
c.2643C= (p.Leu881=)
c.945C= (p.Leu315=)
c.877-1669C= (n.877-1669C=)
c.2994C= (p.Leu998=)
c.3061-1669C= (n.3061-1669C=)
c.2715C= (p.Leu905=)
c.2731-1669C= (n.2731-1669C=)
c.1797C= (p.Leu599=)
n.3348C=
13g.51944223G>TCA483894729ATP7Bc.*894-1669C>A (n.*894-1669C>A)
c.*1873C>A (n.*1873C>A)
c.2508C>A (p.Leu836=)
c.3129C>A (p.Leu1043=)
c.2796C>A (p.Leu932=)
c.2877C>A (p.Leu959=)
c.2895C>A (p.Leu965=)
n.3268C>A
n.3492C>A
c.2064C>A (p.Leu688=)
c.1839C>A (p.Leu613=)
c.2934C>A (p.Leu978=)
n.349C>A
c.1022-1669C>A
c.*230C>A (n.*230C>A)
n.3873C>A
n.2474C>A
c.2985C>A (p.Leu995=)
n.475C>A
c.3033C>A (p.Leu1011=)
c.3093C>A (p.Leu1031=)
c.2643C>A (p.Leu881=)
c.945C>A (p.Leu315=)
c.877-1669C>A (n.877-1669C>A)
c.2994C>A (p.Leu998=)
c.3061-1669C>A (n.3061-1669C>A)
c.2715C>A (p.Leu905=)
c.2731-1669C>A (n.2731-1669C>A)
c.1797C>A (p.Leu599=)
n.3348C>A
13g.51944224A=CA2091564034ATP7Bc.*894-1670T= (n.*894-1670T=)
c.*1872T= (n.*1872T=)
c.2507T= (p.Leu836=)
c.3128T= (p.Leu1043=)
c.2795T= (p.Leu932=)
c.2876T= (p.Leu959=)
c.2894T= (p.Leu965=)
n.3267T=
n.3491T=
c.2063T= (p.Leu688=)
c.1838T= (p.Leu613=)
c.2933T= (p.Leu978=)
n.348T=
c.1022-1670T=
c.*229T= (n.*229T=)
n.3872T=
n.2473T=
c.2984T= (p.Leu995=)
n.474T=
c.3032T= (p.Leu1011=)
c.3092T= (p.Leu1031=)
c.2642T= (p.Leu881=)
c.944T= (p.Leu315=)
c.877-1670T= (n.877-1670T=)
c.2993T= (p.Leu998=)
c.3061-1670T= (n.3061-1670T=)
c.2714T= (p.Leu905=)
c.2731-1670T= (n.2731-1670T=)
c.1796T= (p.Leu599=)
n.3347T=
13g.51944224A>CCA388030262ATP7Bc.*894-1670T>G (n.*894-1670T>G)
c.*1872T>G (n.*1872T>G)
c.2507T>G (p.Leu836Arg)
c.3128T>G (p.Leu1043Arg)
c.2795T>G (p.Leu932Arg)
c.2876T>G (p.Leu959Arg)
c.2894T>G (p.Leu965Arg)
n.3267T>G
n.3491T>G
c.2063T>G (p.Leu688Arg)
c.1838T>G (p.Leu613Arg)
c.2933T>G (p.Leu978Arg)
n.348T>G
c.1022-1670T>G
c.*229T>G (n.*229T>G)
n.3872T>G
n.2473T>G
c.2984T>G (p.Leu995Arg)
n.474T>G
c.3032T>G (p.Leu1011Arg)
c.3092T>G (p.Leu1031Arg)
c.2642T>G (p.Leu881Arg)
c.944T>G (p.Leu315Arg)
c.877-1670T>G (n.877-1670T>G)
c.2993T>G (p.Leu998Arg)
c.3061-1670T>G (n.3061-1670T>G)
c.2714T>G (p.Leu905Arg)
c.2731-1670T>G (n.2731-1670T>G)
c.1796T>G (p.Leu599Arg)
n.3347T>G
13g.51944224A>GCA388030271ATP7Bc.*894-1670T>C (n.*894-1670T>C)
c.*1872T>C (n.*1872T>C)
c.2507T>C (p.Leu836Pro)
c.3128T>C (p.Leu1043Pro)
c.2795T>C (p.Leu932Pro)
c.2876T>C (p.Leu959Pro)
c.2894T>C (p.Leu965Pro)
n.3267T>C
n.3491T>C
c.2063T>C (p.Leu688Pro)
c.1838T>C (p.Leu613Pro)
c.2933T>C (p.Leu978Pro)
n.348T>C
c.1022-1670T>C
c.*229T>C (n.*229T>C)
n.3872T>C
n.2473T>C
c.2984T>C (p.Leu995Pro)
n.474T>C
c.3032T>C (p.Leu1011Pro)
c.3092T>C (p.Leu1031Pro)
c.2642T>C (p.Leu881Pro)
c.944T>C (p.Leu315Pro)
c.877-1670T>C (n.877-1670T>C)
c.2993T>C (p.Leu998Pro)
c.3061-1670T>C (n.3061-1670T>C)
c.2714T>C (p.Leu905Pro)
c.2731-1670T>C (n.2731-1670T>C)
c.1796T>C (p.Leu599Pro)
n.3347T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51944224A>TCA388030260ATP7Bc.*894-1670T>A (n.*894-1670T>A)
c.*1872T>A (n.*1872T>A)
c.2507T>A (p.Leu836His)
c.3128T>A (p.Leu1043His)
c.2795T>A (p.Leu932His)
c.2876T>A (p.Leu959His)
c.2894T>A (p.Leu965His)
n.3267T>A
n.3491T>A
c.2063T>A (p.Leu688His)
c.1838T>A (p.Leu613His)
c.2933T>A (p.Leu978His)
n.348T>A
c.1022-1670T>A
c.*229T>A (n.*229T>A)
n.3872T>A
n.2473T>A
c.2984T>A (p.Leu995His)
n.474T>A
c.3032T>A (p.Leu1011His)
c.3092T>A (p.Leu1031His)
c.2642T>A (p.Leu881His)
c.944T>A (p.Leu315His)
c.877-1670T>A (n.877-1670T>A)
c.2993T>A (p.Leu998His)
c.3061-1670T>A (n.3061-1670T>A)
c.2714T>A (p.Leu905His)
c.2731-1670T>A (n.2731-1670T>A)
c.1796T>A (p.Leu599His)
n.3347T>A
13g.51944225G>ACA388030274ATP7Bc.*894-1671C>T (n.*894-1671C>T)
c.*1871C>T (n.*1871C>T)
c.2506C>T (p.Leu836Phe)
c.3127C>T (p.Leu1043Phe)
c.2794C>T (p.Leu932Phe)
c.2875C>T (p.Leu959Phe)
c.2893C>T (p.Leu965Phe)
n.3266C>T
n.3490C>T
c.2062C>T (p.Leu688Phe)
c.1837C>T (p.Leu613Phe)
c.2932C>T (p.Leu978Phe)
n.347C>T
c.1022-1671C>T
c.*228C>T (n.*228C>T)
n.3871C>T
n.2472C>T
c.2983C>T (p.Leu995Phe)
n.473C>T
c.3031C>T (p.Leu1011Phe)
c.3091C>T (p.Leu1031Phe)
c.2641C>T (p.Leu881Phe)
c.943C>T (p.Leu315Phe)
c.877-1671C>T (n.877-1671C>T)
c.2992C>T (p.Leu998Phe)
c.3061-1671C>T (n.3061-1671C>T)
c.2713C>T (p.Leu905Phe)
c.2731-1671C>T (n.2731-1671C>T)
c.1795C>T (p.Leu599Phe)
n.3346C>T
13g.51944225G>CCA388030276ATP7Bc.*894-1671C>G (n.*894-1671C>G)
c.*1871C>G (n.*1871C>G)
c.2506C>G (p.Leu836Val)
c.3127C>G (p.Leu1043Val)
c.2794C>G (p.Leu932Val)
c.2875C>G (p.Leu959Val)
c.2893C>G (p.Leu965Val)
n.3266C>G
n.3490C>G
c.2062C>G (p.Leu688Val)
c.1837C>G (p.Leu613Val)
c.2932C>G (p.Leu978Val)
n.347C>G
c.1022-1671C>G
c.*228C>G (n.*228C>G)
n.3871C>G
n.2472C>G
c.2983C>G (p.Leu995Val)
n.473C>G
c.3031C>G (p.Leu1011Val)
c.3091C>G (p.Leu1031Val)
c.2641C>G (p.Leu881Val)
c.943C>G (p.Leu315Val)
c.877-1671C>G (n.877-1671C>G)
c.2992C>G (p.Leu998Val)
c.3061-1671C>G (n.3061-1671C>G)
c.2713C>G (p.Leu905Val)
c.2731-1671C>G (n.2731-1671C>G)
c.1795C>G (p.Leu599Val)
n.3346C>G
13g.51944225G>TCA388030278ATP7Bc.*894-1671C>A (n.*894-1671C>A)
c.*1871C>A (n.*1871C>A)
c.2506C>A (p.Leu836Ile)
c.3127C>A (p.Leu1043Ile)
c.2794C>A (p.Leu932Ile)
c.2875C>A (p.Leu959Ile)
c.2893C>A (p.Leu965Ile)
n.3266C>A
n.3490C>A
c.2062C>A (p.Leu688Ile)
c.1837C>A (p.Leu613Ile)
c.2932C>A (p.Leu978Ile)
n.347C>A
c.1022-1671C>A
c.*228C>A (n.*228C>A)
n.3871C>A
n.2472C>A
c.2983C>A (p.Leu995Ile)
n.473C>A
c.3031C>A (p.Leu1011Ile)
c.3091C>A (p.Leu1031Ile)
c.2641C>A (p.Leu881Ile)
c.943C>A (p.Leu315Ile)
c.877-1671C>A (n.877-1671C>A)
c.2992C>A (p.Leu998Ile)
c.3061-1671C>A (n.3061-1671C>A)
c.2713C>A (p.Leu905Ile)
c.2731-1671C>A (n.2731-1671C>A)
c.1795C>A (p.Leu599Ile)
n.3346C>A
13g.51944226C>ACA483894730ATP7Bc.*894-1672G>T (n.*894-1672G>T)
c.*1870G>T (n.*1870G>T)
c.2505G>T (p.Val835=)
c.3126G>T (p.Val1042=)
c.2793G>T (p.Val931=)
c.2874G>T (p.Val958=)
c.2892G>T (p.Val964=)
n.3265G>T
n.3489G>T
c.2061G>T (p.Val687=)
c.1836G>T (p.Val612=)
c.2931G>T (p.Val977=)
n.346G>T
c.1022-1672G>T
c.*227G>T (n.*227G>T)
n.3870G>T
n.2471G>T
c.2982G>T (p.Val994=)
n.472G>T
c.3030G>T (p.Val1010=)
c.3090G>T (p.Val1030=)
c.2640G>T (p.Val880=)
c.942G>T (p.Val314=)
c.877-1672G>T (n.877-1672G>T)
c.2991G>T (p.Val997=)
c.3061-1672G>T (n.3061-1672G>T)
c.2712G>T (p.Val904=)
c.2731-1672G>T (n.2731-1672G>T)
c.1794G>T (p.Val598=)
n.3345G>T
13g.51944226C>GCA483894731ATP7Bc.*894-1672G>C (n.*894-1672G>C)
c.*1870G>C (n.*1870G>C)
c.2505G>C (p.Val835=)
c.3126G>C (p.Val1042=)
c.2793G>C (p.Val931=)
c.2874G>C (p.Val958=)
c.2892G>C (p.Val964=)
n.3265G>C
n.3489G>C
c.2061G>C (p.Val687=)
c.1836G>C (p.Val612=)
c.2931G>C (p.Val977=)
n.346G>C
c.1022-1672G>C
c.*227G>C (n.*227G>C)
n.3870G>C
n.2471G>C
c.2982G>C (p.Val994=)
n.472G>C
c.3030G>C (p.Val1010=)
c.3090G>C (p.Val1030=)
c.2640G>C (p.Val880=)
c.942G>C (p.Val314=)
c.877-1672G>C (n.877-1672G>C)
c.2991G>C (p.Val997=)
c.3061-1672G>C (n.3061-1672G>C)
c.2712G>C (p.Val904=)
c.2731-1672G>C (n.2731-1672G>C)
c.1794G>C (p.Val598=)
n.3345G>C
13g.51944226C>TCA483894732ATP7Bc.*894-1672G>A (n.*894-1672G>A)
c.*1870G>A (n.*1870G>A)
c.2505G>A (p.Val835=)
c.3126G>A (p.Val1042=)
c.2793G>A (p.Val931=)
c.2874G>A (p.Val958=)
c.2892G>A (p.Val964=)
n.3265G>A
n.3489G>A
c.2061G>A (p.Val687=)
c.1836G>A (p.Val612=)
c.2931G>A (p.Val977=)
n.346G>A
c.1022-1672G>A
c.*227G>A (n.*227G>A)
n.3870G>A
n.2471G>A
c.2982G>A (p.Val994=)
n.472G>A
c.3030G>A (p.Val1010=)
c.3090G>A (p.Val1030=)
c.2640G>A (p.Val880=)
c.942G>A (p.Val314=)
c.877-1672G>A (n.877-1672G>A)
c.2991G>A (p.Val997=)
c.3061-1672G>A (n.3061-1672G>A)
c.2712G>A (p.Val904=)
c.2731-1672G>A (n.2731-1672G>A)
c.1794G>A (p.Val598=)
n.3345G>A
 ClinVar
13g.51944227A>CCA388030280ATP7Bc.*894-1673T>G (n.*894-1673T>G)
c.*1869T>G (n.*1869T>G)
c.2504T>G (p.Val835Gly)
c.3125T>G (p.Val1042Gly)
c.2792T>G (p.Val931Gly)
c.2873T>G (p.Val958Gly)
c.2891T>G (p.Val964Gly)
n.3264T>G
n.3488T>G
c.2060T>G (p.Val687Gly)
c.1835T>G (p.Val612Gly)
c.2930T>G (p.Val977Gly)
n.345T>G
c.1022-1673T>G
c.*226T>G (n.*226T>G)
n.3869T>G
n.2470T>G
c.2981T>G (p.Val994Gly)
n.471T>G
c.3029T>G (p.Val1010Gly)
c.3089T>G (p.Val1030Gly)
c.2639T>G (p.Val880Gly)
c.941T>G (p.Val314Gly)
c.877-1673T>G (n.877-1673T>G)
c.2990T>G (p.Val997Gly)
c.3061-1673T>G (n.3061-1673T>G)
c.2711T>G (p.Val904Gly)
c.2731-1673T>G (n.2731-1673T>G)
c.1793T>G (p.Val598Gly)
n.3344T>G
13g.51944227A>GCA388030284ATP7Bc.*894-1673T>C (n.*894-1673T>C)
c.*1869T>C (n.*1869T>C)
c.2504T>C (p.Val835Ala)
c.3125T>C (p.Val1042Ala)
c.2792T>C (p.Val931Ala)
c.2873T>C (p.Val958Ala)
c.2891T>C (p.Val964Ala)
n.3264T>C
n.3488T>C
c.2060T>C (p.Val687Ala)
c.1835T>C (p.Val612Ala)
c.2930T>C (p.Val977Ala)
n.345T>C
c.1022-1673T>C
c.*226T>C (n.*226T>C)
n.3869T>C
n.2470T>C
c.2981T>C (p.Val994Ala)
n.471T>C
c.3029T>C (p.Val1010Ala)
c.3089T>C (p.Val1030Ala)
c.2639T>C (p.Val880Ala)
c.941T>C (p.Val314Ala)
c.877-1673T>C (n.877-1673T>C)
c.2990T>C (p.Val997Ala)
c.3061-1673T>C (n.3061-1673T>C)
c.2711T>C (p.Val904Ala)
c.2731-1673T>C (n.2731-1673T>C)
c.1793T>C (p.Val598Ala)
n.3344T>C
13g.51944227A>TCA388030287ATP7Bc.*894-1673T>A (n.*894-1673T>A)
c.*1869T>A (n.*1869T>A)
c.2504T>A (p.Val835Glu)
c.3125T>A (p.Val1042Glu)
c.2792T>A (p.Val931Glu)
c.2873T>A (p.Val958Glu)
c.2891T>A (p.Val964Glu)
n.3264T>A
n.3488T>A
c.2060T>A (p.Val687Glu)
c.1835T>A (p.Val612Glu)
c.2930T>A (p.Val977Glu)
n.345T>A
c.1022-1673T>A
c.*226T>A (n.*226T>A)
n.3869T>A
n.2470T>A
c.2981T>A (p.Val994Glu)
n.471T>A
c.3029T>A (p.Val1010Glu)
c.3089T>A (p.Val1030Glu)
c.2639T>A (p.Val880Glu)
c.941T>A (p.Val314Glu)
c.877-1673T>A (n.877-1673T>A)
c.2990T>A (p.Val997Glu)
c.3061-1673T>A (n.3061-1673T>A)
c.2711T>A (p.Val904Glu)
c.2731-1673T>A (n.2731-1673T>A)
c.1793T>A (p.Val598Glu)
n.3344T>A
13g.51944228C>ACA6988801ATP7Bc.*894-1674G>T (n.*894-1674G>T)
c.*1868G>T (n.*1868G>T)
c.2503G>T (p.Val835Leu)
c.3124G>T (p.Val1042Leu)
c.2791G>T (p.Val931Leu)
c.2872G>T (p.Val958Leu)
c.2890G>T (p.Val964Leu)
n.3263G>T
n.3487G>T
c.2059G>T (p.Val687Leu)
c.1834G>T (p.Val612Leu)
c.2929G>T (p.Val977Leu)
n.344G>T
c.1022-1674G>T
c.*225G>T (n.*225G>T)
n.3868G>T
n.2469G>T
c.2980G>T (p.Val994Leu)
n.470G>T
c.3028G>T (p.Val1010Leu)
c.3088G>T (p.Val1030Leu)
c.2638G>T (p.Val880Leu)
c.940G>T (p.Val314Leu)
c.877-1674G>T (n.877-1674G>T)
c.2989G>T (p.Val997Leu)
c.3061-1674G>T (n.3061-1674G>T)
c.2710G>T (p.Val904Leu)
c.2731-1674G>T (n.2731-1674G>T)
c.1792G>T (p.Val598Leu)
n.3343G>T
 dbSNP ExAC gnomAD v2
13g.51944228C=CA2091564044ATP7Bc.*894-1674G= (n.*894-1674G=)
c.*1868G= (n.*1868G=)
c.2503G= (p.Val835=)
c.3124G= (p.Val1042=)
c.2791G= (p.Val931=)
c.2872G= (p.Val958=)
c.2890G= (p.Val964=)
n.3263G=
n.3487G=
c.2059G= (p.Val687=)
c.1834G= (p.Val612=)
c.2929G= (p.Val977=)
n.344G=
c.1022-1674G=
c.*225G= (n.*225G=)
n.3868G=
n.2469G=
c.2980G= (p.Val994=)
n.470G=
c.3028G= (p.Val1010=)
c.3088G= (p.Val1030=)
c.2638G= (p.Val880=)
c.940G= (p.Val314=)
c.877-1674G= (n.877-1674G=)
c.2989G= (p.Val997=)
c.3061-1674G= (n.3061-1674G=)
c.2710G= (p.Val904=)
c.2731-1674G= (n.2731-1674G=)
c.1792G= (p.Val598=)
n.3343G=
13g.51944228C>GCA388030299ATP7Bc.*894-1674G>C (n.*894-1674G>C)
c.*1868G>C (n.*1868G>C)
c.2503G>C (p.Val835Leu)
c.3124G>C (p.Val1042Leu)
c.2791G>C (p.Val931Leu)
c.2872G>C (p.Val958Leu)
c.2890G>C (p.Val964Leu)
n.3263G>C
n.3487G>C
c.2059G>C (p.Val687Leu)
c.1834G>C (p.Val612Leu)
c.2929G>C (p.Val977Leu)
n.344G>C
c.1022-1674G>C
c.*225G>C (n.*225G>C)
n.3868G>C
n.2469G>C
c.2980G>C (p.Val994Leu)
n.470G>C
c.3028G>C (p.Val1010Leu)
c.3088G>C (p.Val1030Leu)
c.2638G>C (p.Val880Leu)
c.940G>C (p.Val314Leu)
c.877-1674G>C (n.877-1674G>C)
c.2989G>C (p.Val997Leu)
c.3061-1674G>C (n.3061-1674G>C)
c.2710G>C (p.Val904Leu)
c.2731-1674G>C (n.2731-1674G>C)
c.1792G>C (p.Val598Leu)
n.3343G>C
13g.51944228C>TCA388030296ATP7Bc.*894-1674G>A (n.*894-1674G>A)
c.*1868G>A (n.*1868G>A)
c.2503G>A (p.Val835Met)
c.3124G>A (p.Val1042Met)
c.2791G>A (p.Val931Met)
c.2872G>A (p.Val958Met)
c.2890G>A (p.Val964Met)
n.3263G>A
n.3487G>A
c.2059G>A (p.Val687Met)
c.1834G>A (p.Val612Met)
c.2929G>A (p.Val977Met)
n.344G>A
c.1022-1674G>A
c.*225G>A (n.*225G>A)
n.3868G>A
n.2469G>A
c.2980G>A (p.Val994Met)
n.470G>A
c.3028G>A (p.Val1010Met)
c.3088G>A (p.Val1030Met)
c.2638G>A (p.Val880Met)
c.940G>A (p.Val314Met)
c.877-1674G>A (n.877-1674G>A)
c.2989G>A (p.Val997Met)
c.3061-1674G>A (n.3061-1674G>A)
c.2710G>A (p.Val904Met)
c.2731-1674G>A (n.2731-1674G>A)
c.1792G>A (p.Val598Met)
n.3343G>A
13g.51944230dupCA2739277656ATP7Bc.*894-1674dup (n.*894-1674dup)
c.*1868dup (n.*1868dup)
c.2503dup (p.Val835GlyfsTer27)
c.3124dup (p.Val1042GlyfsTer27)
c.2791dup (p.Val931GlyfsTer27)
c.2872dup (p.Val958GlyfsTer27)
c.2890dup (p.Val964GlyfsTer27)
n.3263dup
n.3487dup
c.2059dup (p.Val687GlyfsTer27)
c.1834dup (p.Val612GlyfsTer27)
c.2929dup (p.Val977GlyfsTer27)
n.344dup
c.1022-1674dup
c.*225dup (n.*225dup)
n.3868dup
n.2469dup
c.2980dup (p.Val994GlyfsTer27)
n.470dup
c.3028dup (p.Val1010GlyfsTer27)
c.3088dup (p.Val1030GlyfsTer27)
c.2638dup (p.Val880GlyfsTer27)
c.940dup (p.Val314GlyfsTer27)
c.877-1674dup (n.877-1674dup)
c.2989dup (p.Val997GlyfsTer27)
c.3061-1674dup (n.3061-1674dup)
c.2710dup (p.Val904GlyfsTer27)
c.2731-1674dup (n.2731-1674dup)
c.1792dup (p.Val598GlyfsTer27)
n.3343dup
 ClinVar
13g.51944230delCA2695218745ATP7Bc.*894-1674del (n.*894-1674del)
c.*1868del (n.*1868del)
c.2503del (p.Val835CysfsTer?)
c.3124del (p.Val1042CysfsTer?)
c.2791del (p.Val931CysfsTer?)
c.2872del (p.Val958CysfsTer?)
c.2890del (p.Val964CysfsTer?)
n.3263del
n.3487del
c.2059del (p.Val687CysfsTer?)
c.1834del (p.Val612CysfsTer?)
c.2929del (p.Val977CysfsTer?)
n.344del
c.1022-1674del
c.*225del (n.*225del)
n.3868del
n.2469del
c.2980del (p.Val994CysfsTer?)
n.470del
c.3028del (p.Val1010CysfsTer?)
c.3088del (p.Val1030CysfsTer?)
c.2638del (p.Val880CysfsTer?)
c.940del (p.Val314CysfsTer?)
c.877-1674del (n.877-1674del)
c.2989del (p.Val997CysfsTer?)
c.3061-1674del (n.3061-1674del)
c.2710del (p.Val904CysfsTer?)
c.2731-1674del (n.2731-1674del)
c.1792del (p.Val598CysfsTer?)
n.3343del
13g.51944229C>ACA483894733ATP7Bc.*894-1675G>T (n.*894-1675G>T)
c.*1867G>T (n.*1867G>T)
c.2502G>T (p.Arg834=)
c.3123G>T (p.Arg1041=)
c.2790G>T (p.Arg930=)
c.2871G>T (p.Arg957=)
c.2889G>T (p.Arg963=)
n.3262G>T
n.3486G>T
c.2058G>T (p.Arg686=)
c.1833G>T (p.Arg611=)
c.2928G>T (p.Arg976=)
n.343G>T
c.1022-1675G>T
c.*224G>T (n.*224G>T)
n.3867G>T
n.2468G>T
c.2979G>T (p.Arg993=)
n.469G>T
c.3027G>T (p.Arg1009=)
c.3087G>T (p.Arg1029=)
c.2637G>T (p.Arg879=)
c.939G>T (p.Arg313=)
c.877-1675G>T (n.877-1675G>T)
c.2988G>T (p.Arg996=)
c.3061-1675G>T (n.3061-1675G>T)
c.2709G>T (p.Arg903=)
c.2731-1675G>T (n.2731-1675G>T)
c.1791G>T (p.Arg597=)
n.3342G>T
13g.51944229C=CA2091564049ATP7Bc.*894-1675G= (n.*894-1675G=)
c.*1867G= (n.*1867G=)
c.2502G= (p.Arg834=)
c.3123G= (p.Arg1041=)
c.2790G= (p.Arg930=)
c.2871G= (p.Arg957=)
c.2889G= (p.Arg963=)
n.3262G=
n.3486G=
c.2058G= (p.Arg686=)
c.1833G= (p.Arg611=)
c.2928G= (p.Arg976=)
n.343G=
c.1022-1675G=
c.*224G= (n.*224G=)
n.3867G=
n.2468G=
c.2979G= (p.Arg993=)
n.469G=
c.3027G= (p.Arg1009=)
c.3087G= (p.Arg1029=)
c.2637G= (p.Arg879=)
c.939G= (p.Arg313=)
c.877-1675G= (n.877-1675G=)
c.2988G= (p.Arg996=)
c.3061-1675G= (n.3061-1675G=)
c.2709G= (p.Arg903=)
c.2731-1675G= (n.2731-1675G=)
c.1791G= (p.Arg597=)
n.3342G=
13g.51944229C>GCA483894735ATP7Bc.*894-1675G>C (n.*894-1675G>C)
c.*1867G>C (n.*1867G>C)
c.2502G>C (p.Arg834=)
c.3123G>C (p.Arg1041=)
c.2790G>C (p.Arg930=)
c.2871G>C (p.Arg957=)
c.2889G>C (p.Arg963=)
n.3262G>C
n.3486G>C
c.2058G>C (p.Arg686=)
c.1833G>C (p.Arg611=)
c.2928G>C (p.Arg976=)
n.343G>C
c.1022-1675G>C
c.*224G>C (n.*224G>C)
n.3867G>C
n.2468G>C
c.2979G>C (p.Arg993=)
n.469G>C
c.3027G>C (p.Arg1009=)
c.3087G>C (p.Arg1029=)
c.2637G>C (p.Arg879=)
c.939G>C (p.Arg313=)
c.877-1675G>C (n.877-1675G>C)
c.2988G>C (p.Arg996=)
c.3061-1675G>C (n.3061-1675G>C)
c.2709G>C (p.Arg903=)
c.2731-1675G>C (n.2731-1675G>C)
c.1791G>C (p.Arg597=)
n.3342G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51944229C>TCA483894734ATP7Bc.*894-1675G>A (n.*894-1675G>A)
c.*1867G>A (n.*1867G>A)
c.2502G>A (p.Arg834=)
c.3123G>A (p.Arg1041=)
c.2790G>A (p.Arg930=)
c.2871G>A (p.Arg957=)
c.2889G>A (p.Arg963=)
n.3262G>A
n.3486G>A
c.2058G>A (p.Arg686=)
c.1833G>A (p.Arg611=)
c.2928G>A (p.Arg976=)
n.343G>A
c.1022-1675G>A
c.*224G>A (n.*224G>A)
n.3867G>A
n.2468G>A
c.2979G>A (p.Arg993=)
n.469G>A
c.3027G>A (p.Arg1009=)
c.3087G>A (p.Arg1029=)
c.2637G>A (p.Arg879=)
c.939G>A (p.Arg313=)
c.877-1675G>A (n.877-1675G>A)
c.2988G>A (p.Arg996=)
c.3061-1675G>A (n.3061-1675G>A)
c.2709G>A (p.Arg903=)
c.2731-1675G>A (n.2731-1675G>A)
c.1791G>A (p.Arg597=)
n.3342G>A
13g.51944230C>ACA388030302ATP7Bc.*894-1676G>T (n.*894-1676G>T)
c.*1866G>T (n.*1866G>T)
c.2501G>T (p.Arg834Leu)
c.3122G>T (p.Arg1041Leu)
c.2789G>T (p.Arg930Leu)
c.2870G>T (p.Arg957Leu)
c.2888G>T (p.Arg963Leu)
n.3261G>T
n.3485G>T
c.2057G>T (p.Arg686Leu)
c.1832G>T (p.Arg611Leu)
c.2927G>T (p.Arg976Leu)
n.342G>T
c.1022-1676G>T
c.*223G>T (n.*223G>T)
n.3866G>T
n.2467G>T
c.2978G>T (p.Arg993Leu)
n.468G>T
c.3026G>T (p.Arg1009Leu)
c.3086G>T (p.Arg1029Leu)
c.2636G>T (p.Arg879Leu)
c.938G>T (p.Arg313Leu)
c.877-1676G>T (n.877-1676G>T)
c.2987G>T (p.Arg996Leu)
c.3061-1676G>T (n.3061-1676G>T)
c.2708G>T (p.Arg903Leu)
c.2731-1676G>T (n.2731-1676G>T)
c.1790G>T (p.Arg597Leu)
n.3341G>T
13g.51944230C>GCA388030304ATP7Bc.*894-1676G>C (n.*894-1676G>C)
c.*1866G>C (n.*1866G>C)
c.2501G>C (p.Arg834Pro)
c.3122G>C (p.Arg1041Pro)
c.2789G>C (p.Arg930Pro)
c.2870G>C (p.Arg957Pro)
c.2888G>C (p.Arg963Pro)
n.3261G>C
n.3485G>C
c.2057G>C (p.Arg686Pro)
c.1832G>C (p.Arg611Pro)
c.2927G>C (p.Arg976Pro)
n.342G>C
c.1022-1676G>C
c.*223G>C (n.*223G>C)
n.3866G>C
n.2467G>C
c.2978G>C (p.Arg993Pro)
n.468G>C
c.3026G>C (p.Arg1009Pro)
c.3086G>C (p.Arg1029Pro)
c.2636G>C (p.Arg879Pro)
c.938G>C (p.Arg313Pro)
c.877-1676G>C (n.877-1676G>C)
c.2987G>C (p.Arg996Pro)
c.3061-1676G>C (n.3061-1676G>C)
c.2708G>C (p.Arg903Pro)
c.2731-1676G>C (n.2731-1676G>C)
c.1790G>C (p.Arg597Pro)
n.3341G>C
 ClinVar
13g.51944230C>TCA388030306ATP7Bc.*894-1676G>A (n.*894-1676G>A)
c.*1866G>A (n.*1866G>A)
c.2501G>A (p.Arg834Gln)
c.3122G>A (p.Arg1041Gln)
c.2789G>A (p.Arg930Gln)
c.2870G>A (p.Arg957Gln)
c.2888G>A (p.Arg963Gln)
n.3261G>A
n.3485G>A
c.2057G>A (p.Arg686Gln)
c.1832G>A (p.Arg611Gln)
c.2927G>A (p.Arg976Gln)
n.342G>A
c.1022-1676G>A
c.*223G>A (n.*223G>A)
n.3866G>A
n.2467G>A
c.2978G>A (p.Arg993Gln)
n.468G>A
c.3026G>A (p.Arg1009Gln)
c.3086G>A (p.Arg1029Gln)
c.2636G>A (p.Arg879Gln)
c.938G>A (p.Arg313Gln)
c.877-1676G>A (n.877-1676G>A)
c.2987G>A (p.Arg996Gln)
c.3061-1676G>A (n.3061-1676G>A)
c.2708G>A (p.Arg903Gln)
c.2731-1676G>A (n.2731-1676G>A)
c.1790G>A (p.Arg597Gln)
n.3341G>A
 gnomAD v4
13g.51944231G>ACA6988802ATP7Bc.*894-1677C>T (n.*894-1677C>T)
c.*1865C>T (n.*1865C>T)
c.2500C>T (p.Arg834Trp)
c.3121C>T (p.Arg1041Trp)
c.2788C>T (p.Arg930Trp)
c.2869C>T (p.Arg957Trp)
c.2887C>T (p.Arg963Trp)
n.3260C>T
n.3484C>T
c.2056C>T (p.Arg686Trp)
c.1831C>T (p.Arg611Trp)
c.2926C>T (p.Arg976Trp)
n.341C>T
c.1022-1677C>T
c.*222C>T (n.*222C>T)
n.3865C>T
n.2466C>T
c.2977C>T (p.Arg993Trp)
n.467C>T
c.3025C>T (p.Arg1009Trp)
c.3085C>T (p.Arg1029Trp)
c.2635C>T (p.Arg879Trp)
c.937C>T (p.Arg313Trp)
c.877-1677C>T (n.877-1677C>T)
c.2986C>T (p.Arg996Trp)
c.3061-1677C>T (n.3061-1677C>T)
c.2707C>T (p.Arg903Trp)
c.2731-1677C>T (n.2731-1677C>T)
c.1789C>T (p.Arg597Trp)
n.3340C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944231G>CCA6988803ATP7Bc.*894-1677C>G (n.*894-1677C>G)
c.*1865C>G (n.*1865C>G)
c.2500C>G (p.Arg834Gly)
c.3121C>G (p.Arg1041Gly)
c.2788C>G (p.Arg930Gly)
c.2869C>G (p.Arg957Gly)
c.2887C>G (p.Arg963Gly)
n.3260C>G
n.3484C>G
c.2056C>G (p.Arg686Gly)
c.1831C>G (p.Arg611Gly)
c.2926C>G (p.Arg976Gly)
n.341C>G
c.1022-1677C>G
c.*222C>G (n.*222C>G)
n.3865C>G
n.2466C>G
c.2977C>G (p.Arg993Gly)
n.467C>G
c.3025C>G (p.Arg1009Gly)
c.3085C>G (p.Arg1029Gly)
c.2635C>G (p.Arg879Gly)
c.937C>G (p.Arg313Gly)
c.877-1677C>G (n.877-1677C>G)
c.2986C>G (p.Arg996Gly)
c.3061-1677C>G (n.3061-1677C>G)
c.2707C>G (p.Arg903Gly)
c.2731-1677C>G (n.2731-1677C>G)
c.1789C>G (p.Arg597Gly)
n.3340C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944231G=CA2091564053ATP7Bc.*894-1677C= (n.*894-1677C=)
c.*1865C= (n.*1865C=)
c.2500C= (p.Arg834=)
c.3121C= (p.Arg1041=)
c.2788C= (p.Arg930=)
c.2869C= (p.Arg957=)
c.2887C= (p.Arg963=)
n.3260C=
n.3484C=
c.2056C= (p.Arg686=)
c.1831C= (p.Arg611=)
c.2926C= (p.Arg976=)
n.341C=
c.1022-1677C=
c.*222C= (n.*222C=)
n.3865C=
n.2466C=
c.2977C= (p.Arg993=)
n.467C=
c.3025C= (p.Arg1009=)
c.3085C= (p.Arg1029=)
c.2635C= (p.Arg879=)
c.937C= (p.Arg313=)
c.877-1677C= (n.877-1677C=)
c.2986C= (p.Arg996=)
c.3061-1677C= (n.3061-1677C=)
c.2707C= (p.Arg903=)
c.2731-1677C= (n.2731-1677C=)
c.1789C= (p.Arg597=)
n.3340C=
13g.51944231G>TCA483894736ATP7Bc.*894-1677C>A (n.*894-1677C>A)
c.*1865C>A (n.*1865C>A)
c.2500C>A (p.Arg834=)
c.3121C>A (p.Arg1041=)
c.2788C>A (p.Arg930=)
c.2869C>A (p.Arg957=)
c.2887C>A (p.Arg963=)
n.3260C>A
n.3484C>A
c.2056C>A (p.Arg686=)
c.1831C>A (p.Arg611=)
c.2926C>A (p.Arg976=)
n.341C>A
c.1022-1677C>A
c.*222C>A (n.*222C>A)
n.3865C>A
n.2466C>A
c.2977C>A (p.Arg993=)
n.467C>A
c.3025C>A (p.Arg1009=)
c.3085C>A (p.Arg1029=)
c.2635C>A (p.Arg879=)
c.937C>A (p.Arg313=)
c.877-1677C>A (n.877-1677C>A)
c.2986C>A (p.Arg996=)
c.3061-1677C>A (n.3061-1677C>A)
c.2707C>A (p.Arg903=)
c.2731-1677C>A (n.2731-1677C>A)
c.1789C>A (p.Arg597=)
n.3340C>A
 gnomAD v4
13g.51944232C>ACA388030315ATP7Bc.*894-1678G>T (n.*894-1678G>T)
c.*1864G>T (n.*1864G>T)
c.2499G>T (p.Met833Ile)
c.3120G>T (p.Met1040Ile)
c.2787G>T (p.Met929Ile)
c.2868G>T (p.Met956Ile)
c.2886G>T (p.Met962Ile)
n.3259G>T
n.3483G>T
c.2055G>T (p.Met685Ile)
c.1830G>T (p.Met610Ile)
c.2925G>T (p.Met975Ile)
n.340G>T
c.1022-1678G>T
c.*221G>T (n.*221G>T)
n.3864G>T
n.2465G>T
c.2976G>T (p.Met992Ile)
n.466G>T
c.3024G>T (p.Met1008Ile)
c.3084G>T (p.Met1028Ile)
c.2634G>T (p.Met878Ile)
c.936G>T (p.Met312Ile)
c.877-1678G>T (n.877-1678G>T)
c.2985G>T (p.Met995Ile)
c.3061-1678G>T (n.3061-1678G>T)
c.2706G>T (p.Met902Ile)
c.2731-1678G>T (n.2731-1678G>T)
c.1788G>T (p.Met596Ile)
n.3339G>T
13g.51944232C>GCA388030321ATP7Bc.*894-1678G>C (n.*894-1678G>C)
c.*1864G>C (n.*1864G>C)
c.2499G>C (p.Met833Ile)
c.3120G>C (p.Met1040Ile)
c.2787G>C (p.Met929Ile)
c.2868G>C (p.Met956Ile)
c.2886G>C (p.Met962Ile)
n.3259G>C
n.3483G>C
c.2055G>C (p.Met685Ile)
c.1830G>C (p.Met610Ile)
c.2925G>C (p.Met975Ile)
n.340G>C
c.1022-1678G>C
c.*221G>C (n.*221G>C)
n.3864G>C
n.2465G>C
c.2976G>C (p.Met992Ile)
n.466G>C
c.3024G>C (p.Met1008Ile)
c.3084G>C (p.Met1028Ile)
c.2634G>C (p.Met878Ile)
c.936G>C (p.Met312Ile)
c.877-1678G>C (n.877-1678G>C)
c.2985G>C (p.Met995Ile)
c.3061-1678G>C (n.3061-1678G>C)
c.2706G>C (p.Met902Ile)
c.2731-1678G>C (n.2731-1678G>C)
c.1788G>C (p.Met596Ile)
n.3339G>C
13g.51944232C>TCA388030310ATP7Bc.*894-1678G>A (n.*894-1678G>A)
c.*1864G>A (n.*1864G>A)
c.2499G>A (p.Met833Ile)
c.3120G>A (p.Met1040Ile)
c.2787G>A (p.Met929Ile)
c.2868G>A (p.Met956Ile)
c.2886G>A (p.Met962Ile)
n.3259G>A
n.3483G>A
c.2055G>A (p.Met685Ile)
c.1830G>A (p.Met610Ile)
c.2925G>A (p.Met975Ile)
n.340G>A
c.1022-1678G>A
c.*221G>A (n.*221G>A)
n.3864G>A
n.2465G>A
c.2976G>A (p.Met992Ile)
n.466G>A
c.3024G>A (p.Met1008Ile)
c.3084G>A (p.Met1028Ile)
c.2634G>A (p.Met878Ile)
c.936G>A (p.Met312Ile)
c.877-1678G>A (n.877-1678G>A)
c.2985G>A (p.Met995Ile)
c.3061-1678G>A (n.3061-1678G>A)
c.2706G>A (p.Met902Ile)
c.2731-1678G>A (n.2731-1678G>A)
c.1788G>A (p.Met596Ile)
n.3339G>A

Number of alleles fetched