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.51944131G>ACA388029823ATP7Bc.*894-1577C>T (n.*894-1577C>T)
c.*1965C>T (n.*1965C>T)
c.2600C>T (p.Ala867Val)
c.3221C>T (p.Ala1074Val)
c.2888C>T (p.Ala963Val)
c.2969C>T (p.Ala990Val)
c.2987C>T (p.Ala996Val)
n.3360C>T
n.3584C>T
c.2156C>T (p.Ala719Val)
c.1931C>T (p.Ala644Val)
c.3026C>T (p.Ala1009Val)
n.441C>T
c.1022-1577C>T
c.*322C>T (n.*322C>T)
n.3965C>T
n.2566C>T
c.3077C>T (p.Ala1026Val)
c.3125C>T (p.Ala1042Val)
c.3185C>T (p.Ala1062Val)
c.2735C>T (p.Ala912Val)
c.1037C>T (p.Ala346Val)
c.877-1577C>T (n.877-1577C>T)
c.3086C>T (p.Ala1029Val)
c.3061-1577C>T (n.3061-1577C>T)
c.2807C>T (p.Ala936Val)
c.2731-1577C>T (n.2731-1577C>T)
c.1889C>T (p.Ala630Val)
n.3440C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51944131G>CCA388029827ATP7Bc.*894-1577C>G (n.*894-1577C>G)
c.*1965C>G (n.*1965C>G)
c.2600C>G (p.Ala867Gly)
c.3221C>G (p.Ala1074Gly)
c.2888C>G (p.Ala963Gly)
c.2969C>G (p.Ala990Gly)
c.2987C>G (p.Ala996Gly)
n.3360C>G
n.3584C>G
c.2156C>G (p.Ala719Gly)
c.1931C>G (p.Ala644Gly)
c.3026C>G (p.Ala1009Gly)
n.441C>G
c.1022-1577C>G
c.*322C>G (n.*322C>G)
n.3965C>G
n.2566C>G
c.3077C>G (p.Ala1026Gly)
c.3125C>G (p.Ala1042Gly)
c.3185C>G (p.Ala1062Gly)
c.2735C>G (p.Ala912Gly)
c.1037C>G (p.Ala346Gly)
c.877-1577C>G (n.877-1577C>G)
c.3086C>G (p.Ala1029Gly)
c.3061-1577C>G (n.3061-1577C>G)
c.2807C>G (p.Ala936Gly)
c.2731-1577C>G (n.2731-1577C>G)
c.1889C>G (p.Ala630Gly)
n.3440C>G
13g.51944131G=CA2091563708ATP7Bc.*894-1577C= (n.*894-1577C=)
c.*1965C= (n.*1965C=)
c.2600C= (p.Ala867=)
c.3221C= (p.Ala1074=)
c.2888C= (p.Ala963=)
c.2969C= (p.Ala990=)
c.2987C= (p.Ala996=)
n.3360C=
n.3584C=
c.2156C= (p.Ala719=)
c.1931C= (p.Ala644=)
c.3026C= (p.Ala1009=)
n.441C=
c.1022-1577C=
c.*322C= (n.*322C=)
n.3965C=
n.2566C=
c.3077C= (p.Ala1026=)
c.3125C= (p.Ala1042=)
c.3185C= (p.Ala1062=)
c.2735C= (p.Ala912=)
c.1037C= (p.Ala346=)
c.877-1577C= (n.877-1577C=)
c.3086C= (p.Ala1029=)
c.3061-1577C= (n.3061-1577C=)
c.2807C= (p.Ala936=)
c.2731-1577C= (n.2731-1577C=)
c.1889C= (p.Ala630=)
n.3440C=
13g.51944131G>TCA388029826ATP7Bc.*894-1577C>A (n.*894-1577C>A)
c.*1965C>A (n.*1965C>A)
c.2600C>A (p.Ala867Glu)
c.3221C>A (p.Ala1074Glu)
c.2888C>A (p.Ala963Glu)
c.2969C>A (p.Ala990Glu)
c.2987C>A (p.Ala996Glu)
n.3360C>A
n.3584C>A
c.2156C>A (p.Ala719Glu)
c.1931C>A (p.Ala644Glu)
c.3026C>A (p.Ala1009Glu)
n.441C>A
c.1022-1577C>A
c.*322C>A (n.*322C>A)
n.3965C>A
n.2566C>A
c.3077C>A (p.Ala1026Glu)
c.3125C>A (p.Ala1042Glu)
c.3185C>A (p.Ala1062Glu)
c.2735C>A (p.Ala912Glu)
c.1037C>A (p.Ala346Glu)
c.877-1577C>A (n.877-1577C>A)
c.3086C>A (p.Ala1029Glu)
c.3061-1577C>A (n.3061-1577C>A)
c.2807C>A (p.Ala936Glu)
c.2731-1577C>A (n.2731-1577C>A)
c.1889C>A (p.Ala630Glu)
n.3440C>A
COSMIC
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
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched