| 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.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= | |
| 13 | g.51944150C>G | CA388029911 | ATP7B | c.*894-1596G>C (n.*894-1596G>C) c.*1946G>C (n.*1946G>C) c.2581G>C (p.Glu861Gln) c.3202G>C (p.Glu1068Gln) c.2869G>C (p.Glu957Gln) c.2950G>C (p.Glu984Gln) c.2968G>C (p.Glu990Gln) n.3341G>C n.3565G>C c.2137G>C (p.Glu713Gln) c.1912G>C (p.Glu638Gln) c.3007G>C (p.Glu1003Gln) n.422G>C c.1022-1596G>C c.*303G>C (n.*303G>C) n.3946G>C n.2547G>C c.3058G>C (p.Glu1020Gln) c.3106G>C (p.Glu1036Gln) c.3166G>C (p.Glu1056Gln) c.2716G>C (p.Glu906Gln) c.1018G>C (p.Glu340Gln) c.877-1596G>C (n.877-1596G>C) c.3067G>C (p.Glu1023Gln) c.3061-1596G>C (n.3061-1596G>C) c.2788G>C (p.Glu930Gln) c.2731-1596G>C (n.2731-1596G>C) c.1870G>C (p.Glu624Gln) n.3421G>C | |
| 13 | g.51944150C>T | CA388029914 | ATP7B | c.*894-1596G>A (n.*894-1596G>A) c.*1946G>A (n.*1946G>A) c.2581G>A (p.Glu861Lys) c.3202G>A (p.Glu1068Lys) c.2869G>A (p.Glu957Lys) c.2950G>A (p.Glu984Lys) c.2968G>A (p.Glu990Lys) n.3341G>A n.3565G>A c.2137G>A (p.Glu713Lys) c.1912G>A (p.Glu638Lys) c.3007G>A (p.Glu1003Lys) n.422G>A c.1022-1596G>A c.*303G>A (n.*303G>A) n.3946G>A n.2547G>A c.3058G>A (p.Glu1020Lys) c.3106G>A (p.Glu1036Lys) c.3166G>A (p.Glu1056Lys) c.2716G>A (p.Glu906Lys) c.1018G>A (p.Glu340Lys) c.877-1596G>A (n.877-1596G>A) c.3067G>A (p.Glu1023Lys) c.3061-1596G>A (n.3061-1596G>A) c.2788G>A (p.Glu930Lys) c.2731-1596G>A (n.2731-1596G>A) c.1870G>A (p.Glu624Lys) n.3421G>A | |
| 13 | g.51944151A>C | CA388029915 | ATP7B | c.*894-1597T>G (n.*894-1597T>G) c.*1945T>G (n.*1945T>G) c.2580T>G (p.Ser860Arg) c.3201T>G (p.Ser1067Arg) c.2868T>G (p.Ser956Arg) c.2949T>G (p.Ser983Arg) c.2967T>G (p.Ser989Arg) n.3340T>G n.3564T>G c.2136T>G (p.Ser712Arg) c.1911T>G (p.Ser637Arg) c.3006T>G (p.Ser1002Arg) n.421T>G c.1022-1597T>G c.*302T>G (n.*302T>G) n.3945T>G n.2546T>G c.3057T>G (p.Ser1019Arg) c.3105T>G (p.Ser1035Arg) c.3165T>G (p.Ser1055Arg) c.2715T>G (p.Ser905Arg) c.1017T>G (p.Ser339Arg) c.877-1597T>G (n.877-1597T>G) c.3066T>G (p.Ser1022Arg) c.3061-1597T>G (n.3061-1597T>G) c.2787T>G (p.Ser929Arg) c.2731-1597T>G (n.2731-1597T>G) c.1869T>G (p.Ser623Arg) n.3420T>G | ClinVar dbSNP |
| 13 | g.51944151A>G | CA483894654 | ATP7B | c.*894-1597T>C (n.*894-1597T>C) c.*1945T>C (n.*1945T>C) c.2580T>C (p.Ser860=) c.3201T>C (p.Ser1067=) c.2868T>C (p.Ser956=) c.2949T>C (p.Ser983=) c.2967T>C (p.Ser989=) n.3340T>C n.3564T>C c.2136T>C (p.Ser712=) c.1911T>C (p.Ser637=) c.3006T>C (p.Ser1002=) n.421T>C c.1022-1597T>C c.*302T>C (n.*302T>C) n.3945T>C n.2546T>C c.3057T>C (p.Ser1019=) c.3105T>C (p.Ser1035=) c.3165T>C (p.Ser1055=) c.2715T>C (p.Ser905=) c.1017T>C (p.Ser339=) c.877-1597T>C (n.877-1597T>C) c.3066T>C (p.Ser1022=) c.3061-1597T>C (n.3061-1597T>C) c.2787T>C (p.Ser929=) c.2731-1597T>C (n.2731-1597T>C) c.1869T>C (p.Ser623=) n.3420T>C | |
| 13 | g.51944151A>T | CA388029918 | ATP7B | c.*894-1597T>A (n.*894-1597T>A) c.*1945T>A (n.*1945T>A) c.2580T>A (p.Ser860Arg) c.3201T>A (p.Ser1067Arg) c.2868T>A (p.Ser956Arg) c.2949T>A (p.Ser983Arg) c.2967T>A (p.Ser989Arg) n.3340T>A n.3564T>A c.2136T>A (p.Ser712Arg) c.1911T>A (p.Ser637Arg) c.3006T>A (p.Ser1002Arg) n.421T>A c.1022-1597T>A c.*302T>A (n.*302T>A) n.3945T>A n.2546T>A c.3057T>A (p.Ser1019Arg) c.3105T>A (p.Ser1035Arg) c.3165T>A (p.Ser1055Arg) c.2715T>A (p.Ser905Arg) c.1017T>A (p.Ser339Arg) c.877-1597T>A (n.877-1597T>A) c.3066T>A (p.Ser1022Arg) c.3061-1597T>A (n.3061-1597T>A) c.2787T>A (p.Ser929Arg) c.2731-1597T>A (n.2731-1597T>A) c.1869T>A (p.Ser623Arg) n.3420T>A | |
| 13 | g.51944152C>A | CA388029920 | ATP7B | c.*894-1598G>T (n.*894-1598G>T) c.*1944G>T (n.*1944G>T) c.2579G>T (p.Ser860Ile) c.3200G>T (p.Ser1067Ile) c.2867G>T (p.Ser956Ile) c.2948G>T (p.Ser983Ile) c.2966G>T (p.Ser989Ile) n.3339G>T n.3563G>T c.2135G>T (p.Ser712Ile) c.1910G>T (p.Ser637Ile) c.3005G>T (p.Ser1002Ile) n.420G>T c.1022-1598G>T c.*301G>T (n.*301G>T) n.3944G>T n.2545G>T c.3056G>T (p.Ser1019Ile) c.3104G>T (p.Ser1035Ile) c.3164G>T (p.Ser1055Ile) c.2714G>T (p.Ser905Ile) c.1016G>T (p.Ser339Ile) c.877-1598G>T (n.877-1598G>T) c.3065G>T (p.Ser1022Ile) c.3061-1598G>T (n.3061-1598G>T) c.2786G>T (p.Ser929Ile) c.2731-1598G>T (n.2731-1598G>T) c.1868G>T (p.Ser623Ile) n.3419G>T | |
| 13 | g.51944152C= | CA2091563821 | ATP7B | c.*894-1598G= (n.*894-1598G=) c.*1944G= (n.*1944G=) c.2579G= (p.Ser860=) c.3200G= (p.Ser1067=) c.2867G= (p.Ser956=) c.2948G= (p.Ser983=) c.2966G= (p.Ser989=) n.3339G= n.3563G= c.2135G= (p.Ser712=) c.1910G= (p.Ser637=) c.3005G= (p.Ser1002=) n.420G= c.1022-1598G= c.*301G= (n.*301G=) n.3944G= n.2545G= c.3056G= (p.Ser1019=) c.3104G= (p.Ser1035=) c.3164G= (p.Ser1055=) c.2714G= (p.Ser905=) c.1016G= (p.Ser339=) c.877-1598G= (n.877-1598G=) c.3065G= (p.Ser1022=) c.3061-1598G= (n.3061-1598G=) c.2786G= (p.Ser929=) c.2731-1598G= (n.2731-1598G=) c.1868G= (p.Ser623=) n.3419G= | |
| 13 | g.51944152C>G | CA388029922 | ATP7B | c.*894-1598G>C (n.*894-1598G>C) c.*1944G>C (n.*1944G>C) c.2579G>C (p.Ser860Thr) c.3200G>C (p.Ser1067Thr) c.2867G>C (p.Ser956Thr) c.2948G>C (p.Ser983Thr) c.2966G>C (p.Ser989Thr) n.3339G>C n.3563G>C c.2135G>C (p.Ser712Thr) c.1910G>C (p.Ser637Thr) c.3005G>C (p.Ser1002Thr) n.420G>C c.1022-1598G>C c.*301G>C (n.*301G>C) n.3944G>C n.2545G>C c.3056G>C (p.Ser1019Thr) c.3104G>C (p.Ser1035Thr) c.3164G>C (p.Ser1055Thr) c.2714G>C (p.Ser905Thr) c.1016G>C (p.Ser339Thr) c.877-1598G>C (n.877-1598G>C) c.3065G>C (p.Ser1022Thr) c.3061-1598G>C (n.3061-1598G>C) c.2786G>C (p.Ser929Thr) c.2731-1598G>C (n.2731-1598G>C) c.1868G>C (p.Ser623Thr) n.3419G>C | |
| 13 | g.51944152C>T | CA388029924 | ATP7B | c.*894-1598G>A (n.*894-1598G>A) c.*1944G>A (n.*1944G>A) c.2579G>A (p.Ser860Asn) c.3200G>A (p.Ser1067Asn) c.2867G>A (p.Ser956Asn) c.2948G>A (p.Ser983Asn) c.2966G>A (p.Ser989Asn) n.3339G>A n.3563G>A c.2135G>A (p.Ser712Asn) c.1910G>A (p.Ser637Asn) c.3005G>A (p.Ser1002Asn) n.420G>A c.1022-1598G>A c.*301G>A (n.*301G>A) n.3944G>A n.2545G>A c.3056G>A (p.Ser1019Asn) c.3104G>A (p.Ser1035Asn) c.3164G>A (p.Ser1055Asn) c.2714G>A (p.Ser905Asn) c.1016G>A (p.Ser339Asn) c.877-1598G>A (n.877-1598G>A) c.3065G>A (p.Ser1022Asn) c.3061-1598G>A (n.3061-1598G>A) c.2786G>A (p.Ser929Asn) c.2731-1598G>A (n.2731-1598G>A) c.1868G>A (p.Ser623Asn) n.3419G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.51944153T>A | CA388029926 | ATP7B | c.*894-1599A>T (n.*894-1599A>T) c.*1943A>T (n.*1943A>T) c.2578A>T (p.Ser860Cys) c.3199A>T (p.Ser1067Cys) c.2866A>T (p.Ser956Cys) c.2947A>T (p.Ser983Cys) c.2965A>T (p.Ser989Cys) n.3338A>T n.3562A>T c.2134A>T (p.Ser712Cys) c.1909A>T (p.Ser637Cys) c.3004A>T (p.Ser1002Cys) n.419A>T c.1022-1599A>T c.*300A>T (n.*300A>T) n.3943A>T n.2544A>T c.3055A>T (p.Ser1019Cys) c.3103A>T (p.Ser1035Cys) c.3163A>T (p.Ser1055Cys) c.2713A>T (p.Ser905Cys) c.1015A>T (p.Ser339Cys) c.877-1599A>T (n.877-1599A>T) c.3064A>T (p.Ser1022Cys) c.3061-1599A>T (n.3061-1599A>T) c.2785A>T (p.Ser929Cys) c.2731-1599A>T (n.2731-1599A>T) c.1867A>T (p.Ser623Cys) n.3418A>T | |
| 13 | g.51944153T>C | CA388029927 | ATP7B | c.*894-1599A>G (n.*894-1599A>G) c.*1943A>G (n.*1943A>G) c.2578A>G (p.Ser860Gly) c.3199A>G (p.Ser1067Gly) c.2866A>G (p.Ser956Gly) c.2947A>G (p.Ser983Gly) c.2965A>G (p.Ser989Gly) n.3338A>G n.3562A>G c.2134A>G (p.Ser712Gly) c.1909A>G (p.Ser637Gly) c.3004A>G (p.Ser1002Gly) n.419A>G c.1022-1599A>G c.*300A>G (n.*300A>G) n.3943A>G n.2544A>G c.3055A>G (p.Ser1019Gly) c.3103A>G (p.Ser1035Gly) c.3163A>G (p.Ser1055Gly) c.2713A>G (p.Ser905Gly) c.1015A>G (p.Ser339Gly) c.877-1599A>G (n.877-1599A>G) c.3064A>G (p.Ser1022Gly) c.3061-1599A>G (n.3061-1599A>G) c.2785A>G (p.Ser929Gly) c.2731-1599A>G (n.2731-1599A>G) c.1867A>G (p.Ser623Gly) n.3418A>G | ClinVar |
| 13 | g.51944153T>G | CA388029928 | ATP7B | c.*894-1599A>C (n.*894-1599A>C) c.*1943A>C (n.*1943A>C) c.2578A>C (p.Ser860Arg) c.3199A>C (p.Ser1067Arg) c.2866A>C (p.Ser956Arg) c.2947A>C (p.Ser983Arg) c.2965A>C (p.Ser989Arg) n.3338A>C n.3562A>C c.2134A>C (p.Ser712Arg) c.1909A>C (p.Ser637Arg) c.3004A>C (p.Ser1002Arg) n.419A>C c.1022-1599A>C c.*300A>C (n.*300A>C) n.3943A>C n.2544A>C c.3055A>C (p.Ser1019Arg) c.3103A>C (p.Ser1035Arg) c.3163A>C (p.Ser1055Arg) c.2713A>C (p.Ser905Arg) c.1015A>C (p.Ser339Arg) c.877-1599A>C (n.877-1599A>C) c.3064A>C (p.Ser1022Arg) c.3061-1599A>C (n.3061-1599A>C) c.2785A>C (p.Ser929Arg) c.2731-1599A>C (n.2731-1599A>C) c.1867A>C (p.Ser623Arg) n.3418A>C | |
| 13 | g.51944154G>A | CA483894656 | ATP7B | c.*894-1600C>T (n.*894-1600C>T) c.*1942C>T (n.*1942C>T) c.2577C>T (p.Ser859=) c.3198C>T (p.Ser1066=) c.2865C>T (p.Ser955=) c.2946C>T (p.Ser982=) c.2964C>T (p.Ser988=) n.3337C>T n.3561C>T c.2133C>T (p.Ser711=) c.1908C>T (p.Ser636=) c.3003C>T (p.Ser1001=) n.418C>T c.1022-1600C>T c.*299C>T (n.*299C>T) n.3942C>T n.2543C>T c.3054C>T (p.Ser1018=) c.3102C>T (p.Ser1034=) c.3162C>T (p.Ser1054=) c.2712C>T (p.Ser904=) c.1014C>T (p.Ser338=) c.877-1600C>T (n.877-1600C>T) c.3063C>T (p.Ser1021=) c.3061-1600C>T (n.3061-1600C>T) c.2784C>T (p.Ser928=) c.2731-1600C>T (n.2731-1600C>T) c.1866C>T (p.Ser622=) n.3417C>T | |
| 13 | g.51944154G>C | CA388029932 | ATP7B | c.*894-1600C>G (n.*894-1600C>G) c.*1942C>G (n.*1942C>G) c.2577C>G (p.Ser859Arg) c.3198C>G (p.Ser1066Arg) c.2865C>G (p.Ser955Arg) c.2946C>G (p.Ser982Arg) c.2964C>G (p.Ser988Arg) n.3337C>G n.3561C>G c.2133C>G (p.Ser711Arg) c.1908C>G (p.Ser636Arg) c.3003C>G (p.Ser1001Arg) n.418C>G c.1022-1600C>G c.*299C>G (n.*299C>G) n.3942C>G n.2543C>G c.3054C>G (p.Ser1018Arg) c.3102C>G (p.Ser1034Arg) c.3162C>G (p.Ser1054Arg) c.2712C>G (p.Ser904Arg) c.1014C>G (p.Ser338Arg) c.877-1600C>G (n.877-1600C>G) c.3063C>G (p.Ser1021Arg) c.3061-1600C>G (n.3061-1600C>G) c.2784C>G (p.Ser928Arg) c.2731-1600C>G (n.2731-1600C>G) c.1866C>G (p.Ser622Arg) n.3417C>G |