Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.51944100_51944142del | CA2695218736 | ATP7B | c.*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 | |
13 | g.51944131G>A | CA388029823 | ATP7B | c.*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 |
13 | g.51944131G>C | CA388029827 | ATP7B | c.*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 | |
13 | g.51944131G= | CA2091563708 | ATP7B | c.*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= | |
13 | g.51944131G>T | CA388029826 | ATP7B | c.*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 |
13 | g.51944132C>A | CA388029829 | ATP7B | c.*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 |
13 | g.51944132C= | CA2091563714 | ATP7B | c.*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= | |
13 | g.51944132C>G | CA388029830 | ATP7B | c.*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 | |
13 | g.51944132C>T | CA388029831 | ATP7B | c.*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 |
13 | g.51944133C>A | CA483894633 | ATP7B | c.*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 | |
13 | g.51944133C= | CA2091563719 | ATP7B | c.*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= | |
13 | g.51944133C>G | CA483894634 | ATP7B | c.*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 |
13 | g.51944133C>T | CA483894635 | ATP7B | c.*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 | |
13 | g.51944134A= | CA2091563724 | ATP7B | c.*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= | |
13 | g.51944134A>C | CA388029832 | ATP7B | c.*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 | |
13 | g.51944134A>G | CA388029833 | ATP7B | c.*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 |
13 | g.51944134A>T | CA388029834 | ATP7B | c.*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 | |
13 | g.51944135C>A | CA388029837 | ATP7B | c.*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 | |
13 | g.51944135C= | CA2091563731 | ATP7B | c.*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= | |
13 | g.51944135C>G | CA388029838 | ATP7B | c.*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 | |
13 | g.51944135C>T | CA6988778 | ATP7B | c.*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 |
13 | g.51944136G>A | CA250080053 | ATP7B | c.*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 |
13 | g.51944136G>C | CA483894637 | ATP7B | c.*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 | |
13 | g.51944136G= | CA2091563735 | ATP7B | c.*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= | |
13 | g.51944136G>T | CA483894638 | ATP7B | c.*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 |
13 | g.51944137C>A | CA388029843 | ATP7B | c.*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 | |
13 | g.51944137C= | CA2091563749 | ATP7B | c.*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= | |
13 | g.51944137C>G | CA388029841 | ATP7B | c.*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 | |
13 | g.51944137C>T | CA388029839 | ATP7B | c.*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 |
13 | g.51944138C>A | CA388029845 | ATP7B | c.*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 | |
13 | g.51944138C= | CA2091563759 | ATP7B | c.*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= | |
13 | g.51944138C>G | CA388029846 | ATP7B | c.*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 | |
13 | g.51944138C>T | CA388029847 | ATP7B | c.*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 |
13 | g.51944139C>A | CA388029848 | ATP7B | c.*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 | |
13 | g.51944139C>G | CA388029850 | ATP7B | c.*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 |
13 | g.51944139C>T | CA483894640 | ATP7B | c.*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 | |
13 | g.51944140A>C | CA388029851 | ATP7B | c.*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 | |
13 | g.51944140A>G | CA388029853 | ATP7B | c.*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 | |
13 | g.51944140A>T | CA388029856 | ATP7B | c.*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 | |
13 | g.51944141A= | CA2091563766 | ATP7B | c.*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= | |
13 | g.51944141A>C | CA388029858 | ATP7B | c.*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 | |
13 | g.51944141A>G | CA6988779 | ATP7B | c.*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 |
13 | g.51944141A>T | CA388029861 | ATP7B | c.*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 | |
13 | g.51944142G>A | CA171311 | ATP7B | c.*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 |
13 | g.51944142G>C | CA483894645 | ATP7B | c.*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 | |
13 | g.51944142G= | CA2091563776 | ATP7B | c.*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= | |
13 | g.51944142G>T | CA483894644 | ATP7B | c.*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 | |
13 | g.51944145del | CA2623116209 | ATP7B | c.*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 |
13 | g.51944143G>A | CA388029869 | ATP7B | c.*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 |
13 | g.51944143G>C | CA388029864 | ATP7B | c.*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 |