| 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.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 | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51944143G= | CA2091563782 | ATP7B | c.*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= | |
| 13 | g.51944143G>T | CA388029867 | ATP7B | c.*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 | |
| 13 | g.51944144G>A | CA388029870 | ATP7B | c.*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 |
| 13 | g.51944144G>C | CA388029871 | ATP7B | c.*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 | |
| 13 | g.51944144G= | CA2091563787 | ATP7B | c.*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= | |
| 13 | g.51944144G>T | CA388029873 | ATP7B | c.*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 | |
| 13 | g.51944145G>A | CA6988780 | ATP7B | c.*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 |
| 13 | g.51944145G>C | CA388029876 | ATP7B | c.*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 | |
| 13 | g.51944145G= | CA2091563802 | ATP7B | c.*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= | |
| 13 | g.51944145G>T | CA220309 | ATP7B | c.*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 |
| 13 | g.51944146T>A | CA388029880 | ATP7B | c.*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 |
| 13 | g.51944146T>C | CA388029883 | ATP7B | c.*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 |
| 13 | g.51944146T>G | CA250080070 | ATP7B | c.*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 |
| 13 | g.51944146T= | CA2091563806 | ATP7B | c.*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= | |
| 13 | g.51944147G>A | CA250080082 | ATP7B | c.*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 |
| 13 | g.51944147G>C | CA388029888 | ATP7B | c.*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 | |
| 13 | g.51944147G= | CA2091563810 | ATP7B | c.*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= | |
| 13 | g.51944147G>T | CA388029895 | ATP7B | c.*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 | |
| 13 | g.51944148T>A | CA388029900 | ATP7B | c.*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 | |
| 13 | g.51944148T>C | CA483894652 | ATP7B | c.*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 |
| 13 | g.51944148T>G | CA388029898 | ATP7B | c.*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 | |
| 13 | g.51944148T= | CA2091563811 | ATP7B | c.*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= | |
| 13 | g.51944149T>A | CA388029901 | ATP7B | c.*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 | |
| 13 | g.51944149T>C | CA388029904 | ATP7B | c.*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 |
| 13 | g.51944149T>G | CA388029907 | ATP7B | c.*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 | |
| 13 | g.51944149T= | CA2091563814 | ATP7B | c.*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= | |
| 13 | g.51944150C>A | CA388029909 | ATP7B | c.*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 |
| 13 | g.51944150C= | CA2091563818 | ATP7B | c.*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= |