Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51934717G>TCA2623117508ATP7Bc.*2087C>A (n.*2087C>A)
c.*3181C>A (n.*3181C>A)
c.*39C>A (n.*39C>A)
n.1760C>A
n.4576C>A
n.1303C>A
c.3372C>A (n.3372C>A)
c.2215C>A
c.*1538C>A (n.*1538C>A)
n.5181C>A
n.3782C>A
n.4656C>A
 gnomAD v4
13g.51934718delCA2533677287ATP7Bc.*2087del (n.*2087del)
c.*3181del (n.*3181del)
c.*39del (n.*39del)
n.1760del
n.4576del
n.1303del
c.3372del (n.3372del)
c.2215del
c.*1538del (n.*1538del)
n.5181del
n.3782del
n.4656del
13g.51934718G>ACA2575420318ATP7Bc.*2086C>T (n.*2086C>T)
c.*3180C>T (n.*3180C>T)
c.*38C>T (n.*38C>T)
n.1759C>T
n.4575C>T
n.1302C>T
c.3371C>T (n.3371C>T)
c.2214C>T
c.*1537C>T (n.*1537C>T)
n.5180C>T
n.3781C>T
n.4655C>T
 gnomAD v4
13g.51934718G>TCA2623117509ATP7Bc.*2086C>A (n.*2086C>A)
c.*3180C>A (n.*3180C>A)
c.*38C>A (n.*38C>A)
n.1759C>A
n.4575C>A
n.1302C>A
c.3371C>A (n.3371C>A)
c.2214C>A
c.*1537C>A (n.*1537C>A)
n.5180C>A
n.3781C>A
n.4655C>A
 gnomAD v4
13g.51934720G>ACA483891928ATP7Bc.*2084C>T (n.*2084C>T)
c.*3178C>T (n.*3178C>T)
c.*36C>T (n.*36C>T)
n.1757C>T
n.4573C>T
n.1300C>T
c.3369C>T (n.3369C>T)
c.2212C>T
c.*1535C>T (n.*1535C>T)
n.5178C>T
n.3779C>T
n.4653C>T
 dbSNP gnomAD v2 gnomAD v4
13g.51934720G=CA2091550141ATP7Bc.*2084C= (n.*2084C=)
c.*3178C= (n.*3178C=)
c.*36C= (n.*36C=)
n.1757C=
n.4573C=
n.1300C=
c.3369C= (n.3369C=)
c.2212C=
c.*1535C= (n.*1535C=)
n.5178C=
n.3779C=
n.4653C=
13g.51934720G>TCA2575420319ATP7Bc.*2084C>A (n.*2084C>A)
c.*3178C>A (n.*3178C>A)
c.*36C>A (n.*36C>A)
n.1757C>A
n.4573C>A
n.1300C>A
c.3369C>A (n.3369C>A)
c.2212C>A
c.*1535C>A (n.*1535C>A)
n.5178C>A
n.3779C>A
n.4653C>A
 gnomAD v4
13g.51934721G>TCA2623117510ATP7Bc.*2083C>A (n.*2083C>A)
c.*3177C>A (n.*3177C>A)
c.*35C>A (n.*35C>A)
n.1756C>A
n.4572C>A
n.1299C>A
c.3368C>A (n.3368C>A)
c.2211C>A
c.*1534C>A (n.*1534C>A)
n.5177C>A
n.3778C>A
n.4652C>A
 gnomAD v4
13g.51934722C>ACA2623117511ATP7Bc.*2082G>T (n.*2082G>T)
c.*3176G>T (n.*3176G>T)
c.*34G>T (n.*34G>T)
n.1755G>T
n.4571G>T
n.1298G>T
c.3367G>T (n.3367G>T)
c.2210G>T
c.*1533G>T (n.*1533G>T)
n.5176G>T
n.3777G>T
n.4651G>T
 gnomAD v4
13g.51934722C=CA2091550143ATP7Bc.*2082G= (n.*2082G=)
c.*3176G= (n.*3176G=)
c.*34G= (n.*34G=)
n.1755G=
n.4571G=
n.1298G=
c.3367G= (n.3367G=)
c.2210G=
c.*1533G= (n.*1533G=)
n.5176G=
n.3777G=
n.4651G=
13g.51934722C>GCA2091550144ATP7Bc.*2082G>C (n.*2082G>C)
c.*3176G>C (n.*3176G>C)
c.*34G>C (n.*34G>C)
n.1755G>C
n.4571G>C
n.1298G>C
c.3367G>C (n.3367G>C)
c.2210G>C
c.*1533G>C (n.*1533G>C)
n.5176G>C
n.3777G>C
n.4651G>C
 dbSNP
13g.51934722C>TCA6988395ATP7Bc.*2082G>A (n.*2082G>A)
c.*3176G>A (n.*3176G>A)
c.*34G>A (n.*34G>A)
n.1755G>A
n.4571G>A
n.1298G>A
c.3367G>A (n.3367G>A)
c.2210G>A
c.*1533G>A (n.*1533G>A)
n.5176G>A
n.3777G>A
n.4651G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934724A>GCA2623117512ATP7Bc.*2080T>C (n.*2080T>C)
c.*3174T>C (n.*3174T>C)
c.*32T>C (n.*32T>C)
n.1753T>C
n.4569T>C
n.1296T>C
c.3365T>C (n.3365T>C)
c.2208T>C
c.*1531T>C (n.*1531T>C)
n.5174T>C
n.3775T>C
n.4649T>C
 gnomAD v4
13g.51934728C>GCA2623117513ATP7Bc.*2076G>C (n.*2076G>C)
c.*3170G>C (n.*3170G>C)
c.*28G>C (n.*28G>C)
n.1749G>C
n.4565G>C
n.1292G>C
c.3361G>C (n.3361G>C)
c.2204G>C
c.*1527G>C (n.*1527G>C)
n.5170G>C
n.3771G>C
n.4645G>C
 dbSNP gnomAD v4
13g.51934728C>TCA2623117514ATP7Bc.*2076G>A (n.*2076G>A)
c.*3170G>A (n.*3170G>A)
c.*28G>A (n.*28G>A)
n.1749G>A
n.4565G>A
n.1292G>A
c.3361G>A (n.3361G>A)
c.2204G>A
c.*1527G>A (n.*1527G>A)
n.5170G>A
n.3771G>A
n.4645G>A
 gnomAD v4
13g.51934730T>ACA2623117515ATP7Bc.*2074A>T (n.*2074A>T)
c.*3168A>T (n.*3168A>T)
c.*26A>T (n.*26A>T)
n.1747A>T
n.4563A>T
n.1290A>T
c.3359A>T (n.3359A>T)
c.2202A>T
c.*1525A>T (n.*1525A>T)
n.5168A>T
n.3769A>T
n.4643A>T
 gnomAD v4
13g.51934731G>ACA2091550148ATP7Bc.*2073C>T (n.*2073C>T)
c.*3167C>T (n.*3167C>T)
c.*25C>T (n.*25C>T)
n.1746C>T
n.4562C>T
n.1289C>T
c.3358C>T (n.3358C>T)
c.2201C>T
c.*1524C>T (n.*1524C>T)
n.5167C>T
n.3768C>T
n.4642C>T
 dbSNP
13g.51934731G=CA2091550149ATP7Bc.*2073C= (n.*2073C=)
c.*3167C= (n.*3167C=)
c.*25C= (n.*25C=)
n.1746C=
n.4562C=
n.1289C=
c.3358C= (n.3358C=)
c.2201C=
c.*1524C= (n.*1524C=)
n.5167C=
n.3768C=
n.4642C=
13g.51934731G>TCA2623117516ATP7Bc.*2073C>A (n.*2073C>A)
c.*3167C>A (n.*3167C>A)
c.*25C>A (n.*25C>A)
n.1746C>A
n.4562C>A
n.1289C>A
c.3358C>A (n.3358C>A)
c.2201C>A
c.*1524C>A (n.*1524C>A)
n.5167C>A
n.3768C>A
n.4642C>A
 gnomAD v4
13g.51934731_51934732delinsGCCA2091550147ATP7Bc.*2072_*2073delinsGC (n.*2072_*2073delinsGC)
c.*3166_*3167delinsGC (n.*3166_*3167delinsGC)
c.*24_*25delinsGC (n.*24_*25delinsGC)
n.1745_1746delinsGC
n.4561_4562delinsGC
n.1288_1289delinsGC
c.3357_3358delinsGC (n.3357_3358delinsGC)
c.2200_2201delinsGC
c.*1523_*1524delinsGC (n.*1523_*1524delinsGC)
n.5166_5167delinsGC
n.3767_3768delinsGC
n.4641_4642delinsGC
13g.51934732C>ACA609961953ATP7Bc.*2072G>T (n.*2072G>T)
c.*3166G>T (n.*3166G>T)
c.*24G>T (n.*24G>T)
n.1745G>T
n.4561G>T
n.1288G>T
c.3357G>T (n.3357G>T)
c.2200G>T
c.*1523G>T (n.*1523G>T)
n.5166G>T
n.3767G>T
n.4641G>T
 dbSNP gnomAD v2 gnomAD v4
13g.51934732C=CA2091550152ATP7Bc.*2072G= (n.*2072G=)
c.*3166G= (n.*3166G=)
c.*24G= (n.*24G=)
n.1745G=
n.4561G=
n.1288G=
c.3357G= (n.3357G=)
c.2200G=
c.*1523G= (n.*1523G=)
n.5166G=
n.3767G=
n.4641G=
13g.51934732C>TCA6988396ATP7Bc.*2072G>A (n.*2072G>A)
c.*3166G>A (n.*3166G>A)
c.*24G>A (n.*24G>A)
n.1745G>A
n.4561G>A
n.1288G>A
c.3357G>A (n.3357G>A)
c.2200G>A
c.*1523G>A (n.*1523G>A)
n.5166G>A
n.3767G>A
n.4641G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934735delCA2091550151ATP7Bc.*2072del (n.*2072del)
c.*3166del (n.*3166del)
c.*24del (n.*24del)
n.1745del
n.4561del
n.1288del
c.3357del (n.3357del)
c.2200del
c.*1523del (n.*1523del)
n.5166del
n.3767del
n.4641del
 dbSNP
13g.51934733C>ACA6988397ATP7Bc.*2071G>T (n.*2071G>T)
c.*3165G>T (n.*3165G>T)
c.*23G>T (n.*23G>T)
n.1744G>T
n.4560G>T
n.1287G>T
c.3356G>T (n.3356G>T)
c.2199G>T
c.*1522G>T (n.*1522G>T)
n.5165G>T
n.3766G>T
n.4640G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934733C=CA2091550154ATP7Bc.*2071G= (n.*2071G=)
c.*3165G= (n.*3165G=)
c.*23G= (n.*23G=)
n.1744G=
n.4560G=
n.1287G=
c.3356G= (n.3356G=)
c.2199G=
c.*1522G= (n.*1522G=)
n.5165G=
n.3766G=
n.4640G=
13g.51934733C>TCA2623117519ATP7Bc.*2071G>A (n.*2071G>A)
c.*3165G>A (n.*3165G>A)
c.*23G>A (n.*23G>A)
n.1744G>A
n.4560G>A
n.1287G>A
c.3356G>A (n.3356G>A)
c.2199G>A
c.*1522G>A (n.*1522G>A)
n.5165G>A
n.3766G>A
n.4640G>A
 gnomAD v4
13g.51934734C=CA2091550155ATP7Bc.*2070G= (n.*2070G=)
c.*3164G= (n.*3164G=)
c.*22G= (n.*22G=)
n.1743G=
n.4559G=
n.1286G=
c.3355G= (n.3355G=)
c.2198G=
c.*1521G= (n.*1521G=)
n.5164G=
n.3765G=
n.4639G=
13g.51934734C>TCA609961954ATP7Bc.*2070G>A (n.*2070G>A)
c.*3164G>A (n.*3164G>A)
c.*22G>A (n.*22G>A)
n.1743G>A
n.4559G>A
n.1286G>A
c.3355G>A (n.3355G>A)
c.2198G>A
c.*1521G>A (n.*1521G>A)
n.5164G>A
n.3765G>A
n.4639G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51934735C>ACA6988398ATP7Bc.*2069G>T (n.*2069G>T)
c.*3163G>T (n.*3163G>T)
c.*21G>T (n.*21G>T)
n.1742G>T
n.4558G>T
n.1285G>T
c.3354G>T (n.3354G>T)
c.2197G>T
c.*1520G>T (n.*1520G>T)
n.5163G>T
n.3764G>T
n.4638G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934735C=CA2091550157ATP7Bc.*2069G= (n.*2069G=)
c.*3163G= (n.*3163G=)
c.*21G= (n.*21G=)
n.1742G=
n.4558G=
n.1285G=
c.3354G= (n.3354G=)
c.2197G=
c.*1520G= (n.*1520G=)
n.5163G=
n.3764G=
n.4638G=
13g.51934735C>GCA698888738ATP7Bc.*2069G>C (n.*2069G>C)
c.*3163G>C (n.*3163G>C)
c.*21G>C (n.*21G>C)
n.1742G>C
n.4558G>C
n.1285G>C
c.3354G>C (n.3354G>C)
c.2197G>C
c.*1520G>C (n.*1520G>C)
n.5163G>C
n.3764G>C
n.4638G>C
 dbSNP gnomAD v3 gnomAD v4
13g.51934735C>TCA6988399ATP7Bc.*2069G>A (n.*2069G>A)
c.*3163G>A (n.*3163G>A)
c.*21G>A (n.*21G>A)
n.1742G>A
n.4558G>A
n.1285G>A
c.3354G>A (n.3354G>A)
c.2197G>A
c.*1520G>A (n.*1520G>A)
n.5163G>A
n.3764G>A
n.4638G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934736G>ACA6988400ATP7Bc.*2068C>T (n.*2068C>T)
c.*3162C>T (n.*3162C>T)
c.*20C>T (n.*20C>T)
n.1741C>T
n.4557C>T
n.1284C>T
c.3353C>T (n.3353C>T)
c.2196C>T
c.*1519C>T (n.*1519C>T)
n.5162C>T
n.3763C>T
n.4637C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934736G>CCA6988401ATP7Bc.*2068C>G (n.*2068C>G)
c.*3162C>G (n.*3162C>G)
c.*20C>G (n.*20C>G)
n.1741C>G
n.4557C>G
n.1284C>G
c.3353C>G (n.3353C>G)
c.2196C>G
c.*1519C>G (n.*1519C>G)
n.5162C>G
n.3763C>G
n.4637C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934736G=CA2091550159ATP7Bc.*2068C= (n.*2068C=)
c.*3162C= (n.*3162C=)
c.*20C= (n.*20C=)
n.1741C=
n.4557C=
n.1284C=
c.3353C= (n.3353C=)
c.2196C=
c.*1519C= (n.*1519C=)
n.5162C=
n.3763C=
n.4637C=
13g.51934737G>ACA609961955ATP7Bc.*2067C>T (n.*2067C>T)
c.*3161C>T (n.*3161C>T)
c.*19C>T (n.*19C>T)
n.1740C>T
n.4556C>T
n.1283C>T
c.3352C>T (n.3352C>T)
c.2195C>T
c.*1518C>T (n.*1518C>T)
n.5161C>T
n.3762C>T
n.4636C>T
 dbSNP gnomAD v2
13g.51934737G=CA2091550160ATP7Bc.*2067C= (n.*2067C=)
c.*3161C= (n.*3161C=)
c.*19C= (n.*19C=)
n.1740C=
n.4556C=
n.1283C=
c.3352C= (n.3352C=)
c.2195C=
c.*1518C= (n.*1518C=)
n.5161C=
n.3762C=
n.4636C=
13g.51934738C>TCA2623117521ATP7Bc.*2066G>A (n.*2066G>A)
c.*3160G>A (n.*3160G>A)
c.*18G>A (n.*18G>A)
n.1739G>A
n.4555G>A
n.1282G>A
c.3351G>A (n.3351G>A)
c.2194G>A
c.*1517G>A (n.*1517G>A)
n.5160G>A
n.3761G>A
n.4635G>A
 dbSNP gnomAD v4
13g.51934740C>ACA2091550163ATP7Bc.*2064G>T (n.*2064G>T)
c.*3158G>T (n.*3158G>T)
c.*16G>T (n.*16G>T)
n.1737G>T
n.4553G>T
n.1280G>T
c.3349G>T (n.3349G>T)
c.2192G>T
c.*1515G>T (n.*1515G>T)
n.5158G>T
n.3759G>T
n.4633G>T
 dbSNP
13g.51934740C=CA2091550162ATP7Bc.*2064G= (n.*2064G=)
c.*3158G= (n.*3158G=)
c.*16G= (n.*16G=)
n.1737G=
n.4553G=
n.1280G=
c.3349G= (n.3349G=)
c.2192G=
c.*1515G= (n.*1515G=)
n.5158G=
n.3759G=
n.4633G=
13g.51934740C>TCA260156ATP7Bc.*2064G>A (n.*2064G>A)
c.*3158G>A (n.*3158G>A)
c.*16G>A (n.*16G>A)
n.1737G>A
n.4553G>A
n.1280G>A
c.3349G>A (n.3349G>A)
c.2192G>A
c.*1515G>A (n.*1515G>A)
n.5158G>A
n.3759G>A
n.4633G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934741G>ACA260155ATP7Bc.*2063C>T (n.*2063C>T)
c.*3157C>T (n.*3157C>T)
c.*15C>T (n.*15C>T)
n.1736C>T
n.4552C>T
n.1279C>T
c.3348C>T (n.3348C>T)
c.2191C>T
c.*1514C>T (n.*1514C>T)
n.5157C>T
n.3758C>T
n.4632C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934741G=CA2091550166ATP7Bc.*2063C= (n.*2063C=)
c.*3157C= (n.*3157C=)
c.*15C= (n.*15C=)
n.1736C=
n.4552C=
n.1279C=
c.3348C= (n.3348C=)
c.2191C=
c.*1514C= (n.*1514C=)
n.5157C=
n.3758C=
n.4632C=
13g.51934741G>TCA2623117522ATP7Bc.*2063C>A (n.*2063C>A)
c.*3157C>A (n.*3157C>A)
c.*15C>A (n.*15C>A)
n.1736C>A
n.4552C>A
n.1279C>A
c.3348C>A (n.3348C>A)
c.2191C>A
c.*1514C>A (n.*1514C>A)
n.5157C>A
n.3758C>A
n.4632C>A
 gnomAD v4
13g.51934742C>TCA2623117524ATP7Bc.*2062G>A (n.*2062G>A)
c.*3156G>A (n.*3156G>A)
c.*14G>A (n.*14G>A)
n.1735G>A
n.4551G>A
n.1278G>A
c.3347G>A (n.3347G>A)
c.2190G>A
c.*1513G>A (n.*1513G>A)
n.5156G>A
n.3757G>A
n.4631G>A
 gnomAD v4
13g.51934743dupCA2623117523ATP7Bc.*2062dup (n.*2062dup)
c.*3156dup (n.*3156dup)
c.*14dup (n.*14dup)
n.1735dup
n.4551dup
n.1278dup
c.3347dup (n.3347dup)
c.2190dup
c.*1513dup (n.*1513dup)
n.5156dup
n.3757dup
n.4631dup
 gnomAD v4
13g.51934743C=CA2091550167ATP7Bc.*2061G= (n.*2061G=)
c.*3155G= (n.*3155G=)
c.*13G= (n.*13G=)
n.1734G=
n.4550G=
n.1277G=
c.3346G= (n.3346G=)
c.2189G=
c.*1512G= (n.*1512G=)
n.5155G=
n.3756G=
n.4630G=
13g.51934743C>TCA2091550168ATP7Bc.*2061G>A (n.*2061G>A)
c.*3155G>A (n.*3155G>A)
c.*13G>A (n.*13G>A)
n.1734G>A
n.4550G>A
n.1277G>A
c.3346G>A (n.3346G>A)
c.2189G>A
c.*1512G>A (n.*1512G>A)
n.5155G>A
n.3756G>A
n.4630G>A
 dbSNP gnomAD v4
13g.51934745G>TCA2623117525ATP7Bc.*2059C>A (n.*2059C>A)
c.*3153C>A (n.*3153C>A)
c.*11C>A (n.*11C>A)
n.1732C>A
n.4548C>A
n.1275C>A
c.3344C>A (n.3344C>A)
c.2187C>A
c.*1510C>A (n.*1510C>A)
n.5153C>A
n.3754C>A
n.4628C>A
 gnomAD v4
13g.51934747C=CA2091550169ATP7Bc.*2057G= (n.*2057G=)
c.*3151G= (n.*3151G=)
c.*9G= (n.*9G=)
n.1730G=
n.4546G=
n.1273G=
c.3342G= (n.3342G=)
c.2185G=
c.*1508G= (n.*1508G=)
n.5151G=
n.3752G=
n.4626G=
13g.51934747C>TCA6988402ATP7Bc.*2057G>A (n.*2057G>A)
c.*3151G>A (n.*3151G>A)
c.*9G>A (n.*9G>A)
n.1730G>A
n.4546G>A
n.1273G>A
c.3342G>A (n.3342G>A)
c.2185G>A
c.*1508G>A (n.*1508G>A)
n.5151G>A
n.3752G>A
n.4626G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934748T>CCA2623117526ATP7Bc.*2056A>G (n.*2056A>G)
c.*3150A>G (n.*3150A>G)
c.*8A>G (n.*8A>G)
n.1729A>G
n.4545A>G
n.1272A>G
c.3341A>G (n.3341A>G)
c.2184A>G
c.*1507A>G (n.*1507A>G)
n.5150A>G
n.3751A>G
n.4625A>G
 gnomAD v4
13g.51934750A=CA2091550171ATP7Bc.*2054T= (n.*2054T=)
c.*3148T= (n.*3148T=)
c.*6T= (n.*6T=)
n.1727T=
n.4543T=
n.1270T=
c.3339T= (n.3339T=)
c.2182T=
c.*1505T= (n.*1505T=)
n.5148T=
n.3749T=
n.4623T=
13g.51934750A>GCA6988403ATP7Bc.*2054T>C (n.*2054T>C)
c.*3148T>C (n.*3148T>C)
c.*6T>C (n.*6T>C)
n.1727T>C
n.4543T>C
n.1270T>C
c.3339T>C (n.3339T>C)
c.2182T>C
c.*1505T>C (n.*1505T>C)
n.5148T>C
n.3749T>C
n.4623T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934753T>CCA609961957ATP7Bc.*2051A>G (n.*2051A>G)
c.*3145A>G (n.*3145A>G)
c.*3A>G (n.*3A>G)
n.1724A>G
n.4540A>G
n.1267A>G
c.3336A>G (n.3336A>G)
c.2179A>G
c.*1502A>G (n.*1502A>G)
n.5145A>G
n.3746A>G
n.4620A>G
 dbSNP gnomAD v2 gnomAD v4
13g.51934753T=CA2091550172ATP7Bc.*2051A= (n.*2051A=)
c.*3145A= (n.*3145A=)
c.*3A= (n.*3A=)
n.1724A=
n.4540A=
n.1267A=
c.3336A= (n.3336A=)
c.2179A=
c.*1502A= (n.*1502A=)
n.5145A=
n.3746A=
n.4620A=
13g.51934754delCA2623117527ATP7Bc.*2050del (n.*2050del)
c.*3144del (n.*3144del)
c.*2del (n.*2del)
n.1723del
n.4539del
n.1266del
c.3335del (n.3335del)
c.2178del
c.*1501del (n.*1501del)
n.5144del
n.3745del
n.4619del
 gnomAD v4
13g.51934754C>TCA2593283038ATP7Bc.*2050G>A (n.*2050G>A)
c.*3144G>A (n.*3144G>A)
c.*2G>A (n.*2G>A)
n.1723G>A
n.4539G>A
n.1266G>A
c.3335G>A (n.3335G>A)
c.2178G>A
c.*1501G>A (n.*1501G>A)
n.5144G>A
n.3745G>A
n.4619G>A
 dbSNP gnomAD v3 gnomAD v4
13g.51934755A=CA2091550174ATP7Bc.*2049T= (n.*2049T=)
c.*3143T= (n.*3143T=)
c.*1T= (n.*1T=)
n.1722T=
n.4538T=
n.1265T=
c.3334T= (n.3334T=)
c.2177T=
c.*1500T= (n.*1500T=)
n.5143T=
n.3744T=
n.4618T=
13g.51934755A>GCA698888766ATP7Bc.*2049T>C (n.*2049T>C)
c.*3143T>C (n.*3143T>C)
c.*1T>C (n.*1T>C)
n.1722T>C
n.4538T>C
n.1265T>C
c.3334T>C (n.3334T>C)
c.2177T>C
c.*1500T>C (n.*1500T>C)
n.5143T>C
n.3744T>C
n.4618T>C
 dbSNP gnomAD v3 gnomAD v4
13g.51934755A>TCA6988404ATP7Bc.*2049T>A (n.*2049T>A)
c.*3143T>A (n.*3143T>A)
c.*1T>A (n.*1T>A)
n.1722T>A
n.4538T>A
n.1265T>A
c.3334T>A (n.3334T>A)
c.2177T>A
c.*1500T>A (n.*1500T>A)
n.5143T>A
n.3744T>A
n.4618T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934756T>ACA388018486ATP7Bc.*2048A>T (n.*2048A>T)
c.*3142A>T (n.*3142A>T)
c.3777A>T (p.Ter1259Cys)
c.4398A>T (p.Ter1466Cys)
c.4065A>T (p.Ter1355Cys)
c.4146A>T (p.Ter1382Cys)
n.1721A>T
c.4164A>T (p.Ter1388Cys)
n.4537A>T
n.1264A>T
c.3333A>T (p.Ter1111Cys)
c.3108A>T (p.Ter1036Cys)
c.4203A>T (p.Ter1401Cys)
c.2176A>T
c.*1499A>T (n.*1499A>T)
n.5142A>T
n.3743A>T
c.4254A>T (p.Ter1418Cys)
c.4302A>T (p.Ter1434Cys)
c.4362A>T (p.Ter1454Cys)
c.3912A>T (p.Ter1304Cys)
c.2214A>T (p.Ter738Cys)
c.2031A>T (p.Ter677Cys)
c.4263A>T (p.Ter1421Cys)
c.4215A>T (p.Ter1405Cys)
c.3984A>T (p.Ter1328Cys)
c.3885A>T (p.Ter1295Cys)
c.3066A>T (p.Ter1022Cys)
n.4617A>T
13g.51934756T>CCA6988405ATP7Bc.*2048A>G (n.*2048A>G)
c.*3142A>G (n.*3142A>G)
c.3777A>G (p.Ter1259Trp)
c.4398A>G (p.Ter1466Trp)
c.4065A>G (p.Ter1355Trp)
c.4146A>G (p.Ter1382Trp)
n.1721A>G
c.4164A>G (p.Ter1388Trp)
n.4537A>G
n.1264A>G
c.3333A>G (p.Ter1111Trp)
c.3108A>G (p.Ter1036Trp)
c.4203A>G (p.Ter1401Trp)
c.2176A>G
c.*1499A>G (n.*1499A>G)
n.5142A>G
n.3743A>G
c.4254A>G (p.Ter1418Trp)
c.4302A>G (p.Ter1434Trp)
c.4362A>G (p.Ter1454Trp)
c.3912A>G (p.Ter1304Trp)
c.2214A>G (p.Ter738Trp)
c.2031A>G (p.Ter677Trp)
c.4263A>G (p.Ter1421Trp)
c.4215A>G (p.Ter1405Trp)
c.3984A>G (p.Ter1328Trp)
c.3885A>G (p.Ter1295Trp)
c.3066A>G (p.Ter1022Trp)
n.4617A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934756T>GCA388018497ATP7Bc.*2048A>C (n.*2048A>C)
c.*3142A>C (n.*3142A>C)
c.3777A>C (p.Ter1259Cys)
c.4398A>C (p.Ter1466Cys)
c.4065A>C (p.Ter1355Cys)
c.4146A>C (p.Ter1382Cys)
n.1721A>C
c.4164A>C (p.Ter1388Cys)
n.4537A>C
n.1264A>C
c.3333A>C (p.Ter1111Cys)
c.3108A>C (p.Ter1036Cys)
c.4203A>C (p.Ter1401Cys)
c.2176A>C
c.*1499A>C (n.*1499A>C)
n.5142A>C
n.3743A>C
c.4254A>C (p.Ter1418Cys)
c.4302A>C (p.Ter1434Cys)
c.4362A>C (p.Ter1454Cys)
c.3912A>C (p.Ter1304Cys)
c.2214A>C (p.Ter738Cys)
c.2031A>C (p.Ter677Cys)
c.4263A>C (p.Ter1421Cys)
c.4215A>C (p.Ter1405Cys)
c.3984A>C (p.Ter1328Cys)
c.3885A>C (p.Ter1295Cys)
c.3066A>C (p.Ter1022Cys)
n.4617A>C
13g.51934756T=CA2091550176ATP7Bc.*2048A= (n.*2048A=)
c.*3142A= (n.*3142A=)
c.3777A= (p.Ter1259=)
c.4398A= (p.Ter1466=)
c.4065A= (p.Ter1355=)
c.4146A= (p.Ter1382=)
n.1721A=
c.4164A= (p.Ter1388=)
n.4537A=
n.1264A=
c.3333A= (p.Ter1111=)
c.3108A= (p.Ter1036=)
c.4203A= (p.Ter1401=)
c.2176A=
c.*1499A= (n.*1499A=)
n.5142A=
n.3743A=
c.4254A= (p.Ter1418=)
c.4302A= (p.Ter1434=)
c.4362A= (p.Ter1454=)
c.3912A= (p.Ter1304=)
c.2214A= (p.Ter738=)
c.2031A= (p.Ter677=)
c.4263A= (p.Ter1421=)
c.4215A= (p.Ter1405=)
c.3984A= (p.Ter1328=)
c.3885A= (p.Ter1295=)
c.3066A= (p.Ter1022=)
n.4617A=
13g.51934757C>ACA388018500ATP7Bc.*2047G>T (n.*2047G>T)
c.*3141G>T (n.*3141G>T)
c.3776G>T (p.Ter1259Leu)
c.4397G>T (p.Ter1466Leu)
c.4064G>T (p.Ter1355Leu)
c.4145G>T (p.Ter1382Leu)
n.1720G>T
c.4163G>T (p.Ter1388Leu)
n.4536G>T
n.1263G>T
c.3332G>T (p.Ter1111Leu)
c.3107G>T (p.Ter1036Leu)
c.4202G>T (p.Ter1401Leu)
c.2175G>T
c.*1498G>T (n.*1498G>T)
n.5141G>T
n.3742G>T
c.4253G>T (p.Ter1418Leu)
c.4301G>T (p.Ter1434Leu)
c.4361G>T (p.Ter1454Leu)
c.3911G>T (p.Ter1304Leu)
c.2213G>T (p.Ter738Leu)
c.2030G>T (p.Ter677Leu)
c.4262G>T (p.Ter1421Leu)
c.4214G>T (p.Ter1405Leu)
c.3983G>T (p.Ter1328Leu)
c.3884G>T (p.Ter1295Leu)
c.3065G>T (p.Ter1022Leu)
n.4616G>T
13g.51934757C>GCA388018504ATP7Bc.*2047G>C (n.*2047G>C)
c.*3141G>C (n.*3141G>C)
c.3776G>C (p.Ter1259Ser)
c.4397G>C (p.Ter1466Ser)
c.4064G>C (p.Ter1355Ser)
c.4145G>C (p.Ter1382Ser)
n.1720G>C
c.4163G>C (p.Ter1388Ser)
n.4536G>C
n.1263G>C
c.3332G>C (p.Ter1111Ser)
c.3107G>C (p.Ter1036Ser)
c.4202G>C (p.Ter1401Ser)
c.2175G>C
c.*1498G>C (n.*1498G>C)
n.5141G>C
n.3742G>C
c.4253G>C (p.Ter1418Ser)
c.4301G>C (p.Ter1434Ser)
c.4361G>C (p.Ter1454Ser)
c.3911G>C (p.Ter1304Ser)
c.2213G>C (p.Ter738Ser)
c.2030G>C (p.Ter677Ser)
c.4262G>C (p.Ter1421Ser)
c.4214G>C (p.Ter1405Ser)
c.3983G>C (p.Ter1328Ser)
c.3884G>C (p.Ter1295Ser)
c.3065G>C (p.Ter1022Ser)
n.4616G>C
13g.51934757C>TCA483891969ATP7Bc.*2047G>A (n.*2047G>A)
c.*3141G>A (n.*3141G>A)
c.3776G>A (p.Ter1259=)
c.4397G>A (p.Ter1466=)
c.4064G>A (p.Ter1355=)
c.4145G>A (p.Ter1382=)
n.1720G>A
c.4163G>A (p.Ter1388=)
n.4536G>A
n.1263G>A
c.3332G>A (p.Ter1111=)
c.3107G>A (p.Ter1036=)
c.4202G>A (p.Ter1401=)
c.2175G>A
c.*1498G>A (n.*1498G>A)
n.5141G>A
n.3742G>A
c.4253G>A (p.Ter1418=)
c.4301G>A (p.Ter1434=)
c.4361G>A (p.Ter1454=)
c.3911G>A (p.Ter1304=)
c.2213G>A (p.Ter738=)
c.2030G>A (p.Ter677=)
c.4262G>A (p.Ter1421=)
c.4214G>A (p.Ter1405=)
c.3983G>A (p.Ter1328=)
c.3884G>A (p.Ter1295=)
c.3065G>A (p.Ter1022=)
n.4616G>A
13g.51934758A=CA2091550177ATP7Bc.*2046T= (n.*2046T=)
c.*3140T= (n.*3140T=)
c.3775T= (p.Ter1259=)
c.4396T= (p.Ter1466=)
c.4063T= (p.Ter1355=)
c.4144T= (p.Ter1382=)
n.1719T=
c.4162T= (p.Ter1388=)
n.4535T=
n.1262T=
c.3331T= (p.Ter1111=)
c.3106T= (p.Ter1036=)
c.4201T= (p.Ter1401=)
c.2174T=
c.*1497T= (n.*1497T=)
n.5140T=
n.3741T=
c.4252T= (p.Ter1418=)
c.4300T= (p.Ter1434=)
c.4360T= (p.Ter1454=)
c.3910T= (p.Ter1304=)
c.2212T= (p.Ter738=)
c.2029T= (p.Ter677=)
c.4261T= (p.Ter1421=)
c.4213T= (p.Ter1405=)
c.3982T= (p.Ter1328=)
c.3883T= (p.Ter1295=)
c.3064T= (p.Ter1022=)
n.4615T=
13g.51934758A>CCA388018508ATP7Bc.*2046T>G (n.*2046T>G)
c.*3140T>G (n.*3140T>G)
c.3775T>G (p.Ter1259Gly)
c.4396T>G (p.Ter1466Gly)
c.4063T>G (p.Ter1355Gly)
c.4144T>G (p.Ter1382Gly)
n.1719T>G
c.4162T>G (p.Ter1388Gly)
n.4535T>G
n.1262T>G
c.3331T>G (p.Ter1111Gly)
c.3106T>G (p.Ter1036Gly)
c.4201T>G (p.Ter1401Gly)
c.2174T>G
c.*1497T>G (n.*1497T>G)
n.5140T>G
n.3741T>G
c.4252T>G (p.Ter1418Gly)
c.4300T>G (p.Ter1434Gly)
c.4360T>G (p.Ter1454Gly)
c.3910T>G (p.Ter1304Gly)
c.2212T>G (p.Ter738Gly)
c.2029T>G (p.Ter677Gly)
c.4261T>G (p.Ter1421Gly)
c.4213T>G (p.Ter1405Gly)
c.3982T>G (p.Ter1328Gly)
c.3883T>G (p.Ter1295Gly)
c.3064T>G (p.Ter1022Gly)
n.4615T>G
13g.51934758A>GCA388018511ATP7Bc.*2046T>C (n.*2046T>C)
c.*3140T>C (n.*3140T>C)
c.3775T>C (p.Ter1259Arg)
c.4396T>C (p.Ter1466Arg)
c.4063T>C (p.Ter1355Arg)
c.4144T>C (p.Ter1382Arg)
n.1719T>C
c.4162T>C (p.Ter1388Arg)
n.4535T>C
n.1262T>C
c.3331T>C (p.Ter1111Arg)
c.3106T>C (p.Ter1036Arg)
c.4201T>C (p.Ter1401Arg)
c.2174T>C
c.*1497T>C (n.*1497T>C)
n.5140T>C
n.3741T>C
c.4252T>C (p.Ter1418Arg)
c.4300T>C (p.Ter1434Arg)
c.4360T>C (p.Ter1454Arg)
c.3910T>C (p.Ter1304Arg)
c.2212T>C (p.Ter738Arg)
c.2029T>C (p.Ter677Arg)
c.4261T>C (p.Ter1421Arg)
c.4213T>C (p.Ter1405Arg)
c.3982T>C (p.Ter1328Arg)
c.3883T>C (p.Ter1295Arg)
c.3064T>C (p.Ter1022Arg)
n.4615T>C
 ClinVar gnomAD v4
13g.51934758A>TCA388018514ATP7Bc.*2046T>A (n.*2046T>A)
c.*3140T>A (n.*3140T>A)
c.3775T>A (p.Ter1259Arg)
c.4396T>A (p.Ter1466Arg)
c.4063T>A (p.Ter1355Arg)
c.4144T>A (p.Ter1382Arg)
n.1719T>A
c.4162T>A (p.Ter1388Arg)
n.4535T>A
n.1262T>A
c.3331T>A (p.Ter1111Arg)
c.3106T>A (p.Ter1036Arg)
c.4201T>A (p.Ter1401Arg)
c.2174T>A
c.*1497T>A (n.*1497T>A)
n.5140T>A
n.3741T>A
c.4252T>A (p.Ter1418Arg)
c.4300T>A (p.Ter1434Arg)
c.4360T>A (p.Ter1454Arg)
c.3910T>A (p.Ter1304Arg)
c.2212T>A (p.Ter738Arg)
c.2029T>A (p.Ter677Arg)
c.4261T>A (p.Ter1421Arg)
c.4213T>A (p.Ter1405Arg)
c.3982T>A (p.Ter1328Arg)
c.3883T>A (p.Ter1295Arg)
c.3064T>A (p.Ter1022Arg)
n.4615T>A
 dbSNP
13g.51934759G>ACA483891977ATP7Bc.*2045C>T (n.*2045C>T)
c.*3139C>T (n.*3139C>T)
c.3774C>T (p.Ile1258=)
c.4395C>T (p.Ile1465=)
c.4062C>T (p.Ile1354=)
c.4143C>T (p.Ile1381=)
n.1718C>T
c.4161C>T (p.Ile1387=)
n.4534C>T
n.1261C>T
c.3330C>T (p.Ile1110=)
c.3105C>T (p.Ile1035=)
c.4200C>T (p.Ile1400=)
c.2173C>T
c.*1496C>T (n.*1496C>T)
n.5139C>T
n.3740C>T
c.4251C>T (p.Ile1417=)
c.4299C>T (p.Ile1433=)
c.4359C>T (p.Ile1453=)
c.3909C>T (p.Ile1303=)
c.2211C>T (p.Ile737=)
c.2028C>T (p.Ile676=)
c.4260C>T (p.Ile1420=)
c.4212C>T (p.Ile1404=)
c.3981C>T (p.Ile1327=)
c.3882C>T (p.Ile1294=)
c.3063C>T (p.Ile1021=)
n.4614C>T
13g.51934759G>CCA388018527ATP7Bc.*2045C>G (n.*2045C>G)
c.*3139C>G (n.*3139C>G)
c.3774C>G (p.Ile1258Met)
c.4395C>G (p.Ile1465Met)
c.4062C>G (p.Ile1354Met)
c.4143C>G (p.Ile1381Met)
n.1718C>G
c.4161C>G (p.Ile1387Met)
n.4534C>G
n.1261C>G
c.3330C>G (p.Ile1110Met)
c.3105C>G (p.Ile1035Met)
c.4200C>G (p.Ile1400Met)
c.2173C>G
c.*1496C>G (n.*1496C>G)
n.5139C>G
n.3740C>G
c.4251C>G (p.Ile1417Met)
c.4299C>G (p.Ile1433Met)
c.4359C>G (p.Ile1453Met)
c.3909C>G (p.Ile1303Met)
c.2211C>G (p.Ile737Met)
c.2028C>G (p.Ile676Met)
c.4260C>G (p.Ile1420Met)
c.4212C>G (p.Ile1404Met)
c.3981C>G (p.Ile1327Met)
c.3882C>G (p.Ile1294Met)
c.3063C>G (p.Ile1021Met)
n.4614C>G
13g.51934759G=CA2091550179ATP7Bc.*2045C= (n.*2045C=)
c.*3139C= (n.*3139C=)
c.3774C= (p.Ile1258=)
c.4395C= (p.Ile1465=)
c.4062C= (p.Ile1354=)
c.4143C= (p.Ile1381=)
n.1718C=
c.4161C= (p.Ile1387=)
n.4534C=
n.1261C=
c.3330C= (p.Ile1110=)
c.3105C= (p.Ile1035=)
c.4200C= (p.Ile1400=)
c.2173C=
c.*1496C= (n.*1496C=)
n.5139C=
n.3740C=
c.4251C= (p.Ile1417=)
c.4299C= (p.Ile1433=)
c.4359C= (p.Ile1453=)
c.3909C= (p.Ile1303=)
c.2211C= (p.Ile737=)
c.2028C= (p.Ile676=)
c.4260C= (p.Ile1420=)
c.4212C= (p.Ile1404=)
c.3981C= (p.Ile1327=)
c.3882C= (p.Ile1294=)
c.3063C= (p.Ile1021=)
n.4614C=
13g.51934759G>TCA6988406ATP7Bc.*2045C>A (n.*2045C>A)
c.*3139C>A (n.*3139C>A)
c.3774C>A (p.Ile1258=)
c.4395C>A (p.Ile1465=)
c.4062C>A (p.Ile1354=)
c.4143C>A (p.Ile1381=)
n.1718C>A
c.4161C>A (p.Ile1387=)
n.4534C>A
n.1261C>A
c.3330C>A (p.Ile1110=)
c.3105C>A (p.Ile1035=)
c.4200C>A (p.Ile1400=)
c.2173C>A
c.*1496C>A (n.*1496C>A)
n.5139C>A
n.3740C>A
c.4251C>A (p.Ile1417=)
c.4299C>A (p.Ile1433=)
c.4359C>A (p.Ile1453=)
c.3909C>A (p.Ile1303=)
c.2211C>A (p.Ile737=)
c.2028C>A (p.Ile676=)
c.4260C>A (p.Ile1420=)
c.4212C>A (p.Ile1404=)
c.3981C>A (p.Ile1327=)
c.3882C>A (p.Ile1294=)
c.3063C>A (p.Ile1021=)
n.4614C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934760A=CA2091550180ATP7Bc.*2044T= (n.*2044T=)
c.*3138T= (n.*3138T=)
c.3773T= (p.Ile1258=)
c.4394T= (p.Ile1465=)
c.4061T= (p.Ile1354=)
c.4142T= (p.Ile1381=)
n.1717T=
c.4160T= (p.Ile1387=)
n.4533T=
n.1260T=
c.3329T= (p.Ile1110=)
c.3104T= (p.Ile1035=)
c.4199T= (p.Ile1400=)
c.2172T=
c.*1495T= (n.*1495T=)
n.5138T=
n.3739T=
c.4250T= (p.Ile1417=)
c.4298T= (p.Ile1433=)
c.4358T= (p.Ile1453=)
c.3908T= (p.Ile1303=)
c.2210T= (p.Ile737=)
c.2027T= (p.Ile676=)
c.4259T= (p.Ile1420=)
c.4211T= (p.Ile1404=)
c.3980T= (p.Ile1327=)
c.3881T= (p.Ile1294=)
c.3062T= (p.Ile1021=)
n.4613T=
13g.51934760A>CCA388018534ATP7Bc.*2044T>G (n.*2044T>G)
c.*3138T>G (n.*3138T>G)
c.3773T>G (p.Ile1258Ser)
c.4394T>G (p.Ile1465Ser)
c.4061T>G (p.Ile1354Ser)
c.4142T>G (p.Ile1381Ser)
n.1717T>G
c.4160T>G (p.Ile1387Ser)
n.4533T>G
n.1260T>G
c.3329T>G (p.Ile1110Ser)
c.3104T>G (p.Ile1035Ser)
c.4199T>G (p.Ile1400Ser)
c.2172T>G
c.*1495T>G (n.*1495T>G)
n.5138T>G
n.3739T>G
c.4250T>G (p.Ile1417Ser)
c.4298T>G (p.Ile1433Ser)
c.4358T>G (p.Ile1453Ser)
c.3908T>G (p.Ile1303Ser)
c.2210T>G (p.Ile737Ser)
c.2027T>G (p.Ile676Ser)
c.4259T>G (p.Ile1420Ser)
c.4211T>G (p.Ile1404Ser)
c.3980T>G (p.Ile1327Ser)
c.3881T>G (p.Ile1294Ser)
c.3062T>G (p.Ile1021Ser)
n.4613T>G
13g.51934760A>GCA388018541ATP7Bc.*2044T>C (n.*2044T>C)
c.*3138T>C (n.*3138T>C)
c.3773T>C (p.Ile1258Thr)
c.4394T>C (p.Ile1465Thr)
c.4061T>C (p.Ile1354Thr)
c.4142T>C (p.Ile1381Thr)
n.1717T>C
c.4160T>C (p.Ile1387Thr)
n.4533T>C
n.1260T>C
c.3329T>C (p.Ile1110Thr)
c.3104T>C (p.Ile1035Thr)
c.4199T>C (p.Ile1400Thr)
c.2172T>C
c.*1495T>C (n.*1495T>C)
n.5138T>C
n.3739T>C
c.4250T>C (p.Ile1417Thr)
c.4298T>C (p.Ile1433Thr)
c.4358T>C (p.Ile1453Thr)
c.3908T>C (p.Ile1303Thr)
c.2210T>C (p.Ile737Thr)
c.2027T>C (p.Ile676Thr)
c.4259T>C (p.Ile1420Thr)
c.4211T>C (p.Ile1404Thr)
c.3980T>C (p.Ile1327Thr)
c.3881T>C (p.Ile1294Thr)
c.3062T>C (p.Ile1021Thr)
n.4613T>C
13g.51934760A>TCA388018538ATP7Bc.*2044T>A (n.*2044T>A)
c.*3138T>A (n.*3138T>A)
c.3773T>A (p.Ile1258Asn)
c.4394T>A (p.Ile1465Asn)
c.4061T>A (p.Ile1354Asn)
c.4142T>A (p.Ile1381Asn)
n.1717T>A
c.4160T>A (p.Ile1387Asn)
n.4533T>A
n.1260T>A
c.3329T>A (p.Ile1110Asn)
c.3104T>A (p.Ile1035Asn)
c.4199T>A (p.Ile1400Asn)
c.2172T>A
c.*1495T>A (n.*1495T>A)
n.5138T>A
n.3739T>A
c.4250T>A (p.Ile1417Asn)
c.4298T>A (p.Ile1433Asn)
c.4358T>A (p.Ile1453Asn)
c.3908T>A (p.Ile1303Asn)
c.2210T>A (p.Ile737Asn)
c.2027T>A (p.Ile676Asn)
c.4259T>A (p.Ile1420Asn)
c.4211T>A (p.Ile1404Asn)
c.3980T>A (p.Ile1327Asn)
c.3881T>A (p.Ile1294Asn)
c.3062T>A (p.Ile1021Asn)
n.4613T>A
13g.51934761T>ACA388018546ATP7Bc.*2043A>T (n.*2043A>T)
c.*3137A>T (n.*3137A>T)
c.3772A>T (p.Ile1258Phe)
c.4393A>T (p.Ile1465Phe)
c.4060A>T (p.Ile1354Phe)
c.4141A>T (p.Ile1381Phe)
n.1716A>T
c.4159A>T (p.Ile1387Phe)
n.4532A>T
n.1259A>T
c.3328A>T (p.Ile1110Phe)
c.3103A>T (p.Ile1035Phe)
c.4198A>T (p.Ile1400Phe)
c.2171A>T
c.*1494A>T (n.*1494A>T)
n.5137A>T
n.3738A>T
c.4249A>T (p.Ile1417Phe)
c.4297A>T (p.Ile1433Phe)
c.4357A>T (p.Ile1453Phe)
c.3907A>T (p.Ile1303Phe)
c.2209A>T (p.Ile737Phe)
c.2026A>T (p.Ile676Phe)
c.4258A>T (p.Ile1420Phe)
c.4210A>T (p.Ile1404Phe)
c.3979A>T (p.Ile1327Phe)
c.3880A>T (p.Ile1294Phe)
c.3061A>T (p.Ile1021Phe)
n.4612A>T
13g.51934761T>CCA388018548ATP7Bc.*2043A>G (n.*2043A>G)
c.*3137A>G (n.*3137A>G)
c.3772A>G (p.Ile1258Val)
c.4393A>G (p.Ile1465Val)
c.4060A>G (p.Ile1354Val)
c.4141A>G (p.Ile1381Val)
n.1716A>G
c.4159A>G (p.Ile1387Val)
n.4532A>G
n.1259A>G
c.3328A>G (p.Ile1110Val)
c.3103A>G (p.Ile1035Val)
c.4198A>G (p.Ile1400Val)
c.2171A>G
c.*1494A>G (n.*1494A>G)
n.5137A>G
n.3738A>G
c.4249A>G (p.Ile1417Val)
c.4297A>G (p.Ile1433Val)
c.4357A>G (p.Ile1453Val)
c.3907A>G (p.Ile1303Val)
c.2209A>G (p.Ile737Val)
c.2026A>G (p.Ile676Val)
c.4258A>G (p.Ile1420Val)
c.4210A>G (p.Ile1404Val)
c.3979A>G (p.Ile1327Val)
c.3880A>G (p.Ile1294Val)
c.3061A>G (p.Ile1021Val)
n.4612A>G
 gnomAD v4
13g.51934761T>GCA388018558ATP7Bc.*2043A>C (n.*2043A>C)
c.*3137A>C (n.*3137A>C)
c.3772A>C (p.Ile1258Leu)
c.4393A>C (p.Ile1465Leu)
c.4060A>C (p.Ile1354Leu)
c.4141A>C (p.Ile1381Leu)
n.1716A>C
c.4159A>C (p.Ile1387Leu)
n.4532A>C
n.1259A>C
c.3328A>C (p.Ile1110Leu)
c.3103A>C (p.Ile1035Leu)
c.4198A>C (p.Ile1400Leu)
c.2171A>C
c.*1494A>C (n.*1494A>C)
n.5137A>C
n.3738A>C
c.4249A>C (p.Ile1417Leu)
c.4297A>C (p.Ile1433Leu)
c.4357A>C (p.Ile1453Leu)
c.3907A>C (p.Ile1303Leu)
c.2209A>C (p.Ile737Leu)
c.2026A>C (p.Ile676Leu)
c.4258A>C (p.Ile1420Leu)
c.4210A>C (p.Ile1404Leu)
c.3979A>C (p.Ile1327Leu)
c.3880A>C (p.Ile1294Leu)
c.3061A>C (p.Ile1021Leu)
n.4612A>C
13g.51934762_51934763dupCA698888790ATP7Bc.*2042_*2043dup (n.*2042_*2043dup)
c.*3136_*3137dup (n.*3136_*3137dup)
c.3771_3772dup (p.Ile1258ThrfsTer21)
c.4392_4393dup (p.Ile1465ThrfsTer21)
c.4059_4060dup (p.Ile1354ThrfsTer?)
c.4140_4141dup (p.Ile1381ThrfsTer21)
n.1715_1716dup
c.4158_4159dup (p.Ile1387ThrfsTer21)
n.4531_4532dup
n.1258_1259dup
c.3327_3328dup (p.Ile1110ThrfsTer21)
c.4059_4060dup (p.Ile1354ThrfsTer21)
c.3102_3103dup (p.Ile1035ThrfsTer21)
c.4197_4198dup (p.Ile1400ThrfsTer21)
c.2170_2171dup
c.*1493_*1494dup (n.*1493_*1494dup)
n.5136_5137dup
n.3737_3738dup
c.4248_4249dup (p.Ile1417ThrfsTer21)
c.4296_4297dup (p.Ile1433ThrfsTer21)
c.4356_4357dup (p.Ile1453ThrfsTer21)
c.3906_3907dup (p.Ile1303ThrfsTer21)
c.2208_2209dup (p.Ile737ThrfsTer21)
c.2025_2026dup (p.Ile676ThrfsTer21)
c.4257_4258dup (p.Ile1420ThrfsTer21)
c.4209_4210dup (p.Ile1404ThrfsTer21)
c.3978_3979dup (p.Ile1327ThrfsTer21)
c.3879_3880dup (p.Ile1294ThrfsTer21)
c.3060_3061dup (p.Ile1021ThrfsTer21)
n.4611_4612dup
 dbSNP gnomAD v3 gnomAD v4
13g.51934762G>ACA250071416ATP7Bc.*2042C>T (n.*2042C>T)
c.*3136C>T (n.*3136C>T)
c.3771C>T (p.Tyr1257=)
c.4392C>T (p.Tyr1464=)
c.4059C>T (p.Tyr1353=)
c.4140C>T (p.Tyr1380=)
n.1715C>T
c.4158C>T (p.Tyr1386=)
n.4531C>T
n.1258C>T
c.3327C>T (p.Tyr1109=)
c.3102C>T (p.Tyr1034=)
c.4197C>T (p.Tyr1399=)
c.2170C>T
c.*1493C>T (n.*1493C>T)
n.5136C>T
n.3737C>T
c.4248C>T (p.Tyr1416=)
c.4296C>T (p.Tyr1432=)
c.4356C>T (p.Tyr1452=)
c.3906C>T (p.Tyr1302=)
c.2208C>T (p.Tyr736=)
c.2025C>T (p.Tyr675=)
c.4257C>T (p.Tyr1419=)
c.4209C>T (p.Tyr1403=)
c.3978C>T (p.Tyr1326=)
c.3879C>T (p.Tyr1293=)
c.3060C>T (p.Tyr1020=)
n.4611C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51934762G>CCA388018560ATP7Bc.*2042C>G (n.*2042C>G)
c.*3136C>G (n.*3136C>G)
c.3771C>G (p.Tyr1257Ter)
c.4392C>G (p.Tyr1464Ter)
c.4059C>G (p.Tyr1353Ter)
c.4140C>G (p.Tyr1380Ter)
n.1715C>G
c.4158C>G (p.Tyr1386Ter)
n.4531C>G
n.1258C>G
c.3327C>G (p.Tyr1109Ter)
c.3102C>G (p.Tyr1034Ter)
c.4197C>G (p.Tyr1399Ter)
c.2170C>G
c.*1493C>G (n.*1493C>G)
n.5136C>G
n.3737C>G
c.4248C>G (p.Tyr1416Ter)
c.4296C>G (p.Tyr1432Ter)
c.4356C>G (p.Tyr1452Ter)
c.3906C>G (p.Tyr1302Ter)
c.2208C>G (p.Tyr736Ter)
c.2025C>G (p.Tyr675Ter)
c.4257C>G (p.Tyr1419Ter)
c.4209C>G (p.Tyr1403Ter)
c.3978C>G (p.Tyr1326Ter)
c.3879C>G (p.Tyr1293Ter)
c.3060C>G (p.Tyr1020Ter)
n.4611C>G
13g.51934762G=CA2091550182ATP7Bc.*2042C= (n.*2042C=)
c.*3136C= (n.*3136C=)
c.3771C= (p.Tyr1257=)
c.4392C= (p.Tyr1464=)
c.4059C= (p.Tyr1353=)
c.4140C= (p.Tyr1380=)
n.1715C=
c.4158C= (p.Tyr1386=)
n.4531C=
n.1258C=
c.3327C= (p.Tyr1109=)
c.3102C= (p.Tyr1034=)
c.4197C= (p.Tyr1399=)
c.2170C=
c.*1493C= (n.*1493C=)
n.5136C=
n.3737C=
c.4248C= (p.Tyr1416=)
c.4296C= (p.Tyr1432=)
c.4356C= (p.Tyr1452=)
c.3906C= (p.Tyr1302=)
c.2208C= (p.Tyr736=)
c.2025C= (p.Tyr675=)
c.4257C= (p.Tyr1419=)
c.4209C= (p.Tyr1403=)
c.3978C= (p.Tyr1326=)
c.3879C= (p.Tyr1293=)
c.3060C= (p.Tyr1020=)
n.4611C=
13g.51934762G>TCA388018562ATP7Bc.*2042C>A (n.*2042C>A)
c.*3136C>A (n.*3136C>A)
c.3771C>A (p.Tyr1257Ter)
c.4392C>A (p.Tyr1464Ter)
c.4059C>A (p.Tyr1353Ter)
c.4140C>A (p.Tyr1380Ter)
n.1715C>A
c.4158C>A (p.Tyr1386Ter)
n.4531C>A
n.1258C>A
c.3327C>A (p.Tyr1109Ter)
c.3102C>A (p.Tyr1034Ter)
c.4197C>A (p.Tyr1399Ter)
c.2170C>A
c.*1493C>A (n.*1493C>A)
n.5136C>A
n.3737C>A
c.4248C>A (p.Tyr1416Ter)
c.4296C>A (p.Tyr1432Ter)
c.4356C>A (p.Tyr1452Ter)
c.3906C>A (p.Tyr1302Ter)
c.2208C>A (p.Tyr736Ter)
c.2025C>A (p.Tyr675Ter)
c.4257C>A (p.Tyr1419Ter)
c.4209C>A (p.Tyr1403Ter)
c.3978C>A (p.Tyr1326Ter)
c.3879C>A (p.Tyr1293Ter)
c.3060C>A (p.Tyr1020Ter)
n.4611C>A
13g.51934763T>ACA388018565ATP7Bc.*2041A>T (n.*2041A>T)
c.*3135A>T (n.*3135A>T)
c.3770A>T (p.Tyr1257Phe)
c.4391A>T (p.Tyr1464Phe)
c.4058A>T (p.Tyr1353Phe)
c.4139A>T (p.Tyr1380Phe)
n.1714A>T
c.4157A>T (p.Tyr1386Phe)
n.4530A>T
n.1257A>T
c.3326A>T (p.Tyr1109Phe)
c.3101A>T (p.Tyr1034Phe)
c.4196A>T (p.Tyr1399Phe)
c.2169A>T
c.*1492A>T (n.*1492A>T)
n.5135A>T
n.3736A>T
c.4247A>T (p.Tyr1416Phe)
c.4295A>T (p.Tyr1432Phe)
c.4355A>T (p.Tyr1452Phe)
c.3905A>T (p.Tyr1302Phe)
c.2207A>T (p.Tyr736Phe)
c.2024A>T (p.Tyr675Phe)
c.4256A>T (p.Tyr1419Phe)
c.4208A>T (p.Tyr1403Phe)
c.3977A>T (p.Tyr1326Phe)
c.3878A>T (p.Tyr1293Phe)
c.3059A>T (p.Tyr1020Phe)
n.4610A>T
13g.51934763T>CCA388018566ATP7Bc.*2041A>G (n.*2041A>G)
c.*3135A>G (n.*3135A>G)
c.3770A>G (p.Tyr1257Cys)
c.4391A>G (p.Tyr1464Cys)
c.4058A>G (p.Tyr1353Cys)
c.4139A>G (p.Tyr1380Cys)
n.1714A>G
c.4157A>G (p.Tyr1386Cys)
n.4530A>G
n.1257A>G
c.3326A>G (p.Tyr1109Cys)
c.3101A>G (p.Tyr1034Cys)
c.4196A>G (p.Tyr1399Cys)
c.2169A>G
c.*1492A>G (n.*1492A>G)
n.5135A>G
n.3736A>G
c.4247A>G (p.Tyr1416Cys)
c.4295A>G (p.Tyr1432Cys)
c.4355A>G (p.Tyr1452Cys)
c.3905A>G (p.Tyr1302Cys)
c.2207A>G (p.Tyr736Cys)
c.2024A>G (p.Tyr675Cys)
c.4256A>G (p.Tyr1419Cys)
c.4208A>G (p.Tyr1403Cys)
c.3977A>G (p.Tyr1326Cys)
c.3878A>G (p.Tyr1293Cys)
c.3059A>G (p.Tyr1020Cys)
n.4610A>G
13g.51934763T>GCA6988407ATP7Bc.*2041A>C (n.*2041A>C)
c.*3135A>C (n.*3135A>C)
c.3770A>C (p.Tyr1257Ser)
c.4391A>C (p.Tyr1464Ser)
c.4058A>C (p.Tyr1353Ser)
c.4139A>C (p.Tyr1380Ser)
n.1714A>C
c.4157A>C (p.Tyr1386Ser)
n.4530A>C
n.1257A>C
c.3326A>C (p.Tyr1109Ser)
c.3101A>C (p.Tyr1034Ser)
c.4196A>C (p.Tyr1399Ser)
c.2169A>C
c.*1492A>C (n.*1492A>C)
n.5135A>C
n.3736A>C
c.4247A>C (p.Tyr1416Ser)
c.4295A>C (p.Tyr1432Ser)
c.4355A>C (p.Tyr1452Ser)
c.3905A>C (p.Tyr1302Ser)
c.2207A>C (p.Tyr736Ser)
c.2024A>C (p.Tyr675Ser)
c.4256A>C (p.Tyr1419Ser)
c.4208A>C (p.Tyr1403Ser)
c.3977A>C (p.Tyr1326Ser)
c.3878A>C (p.Tyr1293Ser)
c.3059A>C (p.Tyr1020Ser)
n.4610A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934763T=CA2091550184ATP7Bc.*2041A= (n.*2041A=)
c.*3135A= (n.*3135A=)
c.3770A= (p.Tyr1257=)
c.4391A= (p.Tyr1464=)
c.4058A= (p.Tyr1353=)
c.4139A= (p.Tyr1380=)
n.1714A=
c.4157A= (p.Tyr1386=)
n.4530A=
n.1257A=
c.3326A= (p.Tyr1109=)
c.3101A= (p.Tyr1034=)
c.4196A= (p.Tyr1399=)
c.2169A=
c.*1492A= (n.*1492A=)
n.5135A=
n.3736A=
c.4247A= (p.Tyr1416=)
c.4295A= (p.Tyr1432=)
c.4355A= (p.Tyr1452=)
c.3905A= (p.Tyr1302=)
c.2207A= (p.Tyr736=)
c.2024A= (p.Tyr675=)
c.4256A= (p.Tyr1419=)
c.4208A= (p.Tyr1403=)
c.3977A= (p.Tyr1326=)
c.3878A= (p.Tyr1293=)
c.3059A= (p.Tyr1020=)
n.4610A=
13g.51934764A>CCA388018567ATP7Bc.*2040T>G (n.*2040T>G)
c.*3134T>G (n.*3134T>G)
c.3769T>G (p.Tyr1257Asp)
c.4390T>G (p.Tyr1464Asp)
c.4057T>G (p.Tyr1353Asp)
c.4138T>G (p.Tyr1380Asp)
n.1713T>G
c.4156T>G (p.Tyr1386Asp)
n.4529T>G
n.1256T>G
c.3325T>G (p.Tyr1109Asp)
c.3100T>G (p.Tyr1034Asp)
c.4195T>G (p.Tyr1399Asp)
c.2168T>G
c.*1491T>G (n.*1491T>G)
n.5134T>G
n.3735T>G
c.4246T>G (p.Tyr1416Asp)
c.4294T>G (p.Tyr1432Asp)
c.4354T>G (p.Tyr1452Asp)
c.3904T>G (p.Tyr1302Asp)
c.2206T>G (p.Tyr736Asp)
c.2023T>G (p.Tyr675Asp)
c.4255T>G (p.Tyr1419Asp)
c.4207T>G (p.Tyr1403Asp)
c.3976T>G (p.Tyr1326Asp)
c.3877T>G (p.Tyr1293Asp)
c.3058T>G (p.Tyr1020Asp)
n.4609T>G
13g.51934764A>GCA388018568ATP7Bc.*2040T>C (n.*2040T>C)
c.*3134T>C (n.*3134T>C)
c.3769T>C (p.Tyr1257His)
c.4390T>C (p.Tyr1464His)
c.4057T>C (p.Tyr1353His)
c.4138T>C (p.Tyr1380His)
n.1713T>C
c.4156T>C (p.Tyr1386His)
n.4529T>C
n.1256T>C
c.3325T>C (p.Tyr1109His)
c.3100T>C (p.Tyr1034His)
c.4195T>C (p.Tyr1399His)
c.2168T>C
c.*1491T>C (n.*1491T>C)
n.5134T>C
n.3735T>C
c.4246T>C (p.Tyr1416His)
c.4294T>C (p.Tyr1432His)
c.4354T>C (p.Tyr1452His)
c.3904T>C (p.Tyr1302His)
c.2206T>C (p.Tyr736His)
c.2023T>C (p.Tyr675His)
c.4255T>C (p.Tyr1419His)
c.4207T>C (p.Tyr1403His)
c.3976T>C (p.Tyr1326His)
c.3877T>C (p.Tyr1293His)
c.3058T>C (p.Tyr1020His)
n.4609T>C
13g.51934764A>TCA388018571ATP7Bc.*2040T>A (n.*2040T>A)
c.*3134T>A (n.*3134T>A)
c.3769T>A (p.Tyr1257Asn)
c.4390T>A (p.Tyr1464Asn)
c.4057T>A (p.Tyr1353Asn)
c.4138T>A (p.Tyr1380Asn)
n.1713T>A
c.4156T>A (p.Tyr1386Asn)
n.4529T>A
n.1256T>A
c.3325T>A (p.Tyr1109Asn)
c.3100T>A (p.Tyr1034Asn)
c.4195T>A (p.Tyr1399Asn)
c.2168T>A
c.*1491T>A (n.*1491T>A)
n.5134T>A
n.3735T>A
c.4246T>A (p.Tyr1416Asn)
c.4294T>A (p.Tyr1432Asn)
c.4354T>A (p.Tyr1452Asn)
c.3904T>A (p.Tyr1302Asn)
c.2206T>A (p.Tyr736Asn)
c.2023T>A (p.Tyr675Asn)
c.4255T>A (p.Tyr1419Asn)
c.4207T>A (p.Tyr1403Asn)
c.3976T>A (p.Tyr1326Asn)
c.3877T>A (p.Tyr1293Asn)
c.3058T>A (p.Tyr1020Asn)
n.4609T>A
13g.51934765C>ACA388018580ATP7Bc.*2039G>T (n.*2039G>T)
c.*3133G>T (n.*3133G>T)
c.3768G>T (p.Gln1256His)
c.4389G>T (p.Gln1463His)
c.4056G>T (p.Gln1352His)
c.4137G>T (p.Gln1379His)
n.1712G>T
c.4155G>T (p.Gln1385His)
n.4528G>T
n.1255G>T
c.3324G>T (p.Gln1108His)
c.3099G>T (p.Gln1033His)
c.4194G>T (p.Gln1398His)
c.2167G>T
c.*1490G>T (n.*1490G>T)
n.5133G>T
n.3734G>T
c.4245G>T (p.Gln1415His)
c.4293G>T (p.Gln1431His)
c.4353G>T (p.Gln1451His)
c.3903G>T (p.Gln1301His)
c.2205G>T (p.Gln735His)
c.2022G>T (p.Gln674His)
c.4254G>T (p.Gln1418His)
c.4206G>T (p.Gln1402His)
c.3975G>T (p.Gln1325His)
c.3876G>T (p.Gln1292His)
c.3057G>T (p.Gln1019His)
n.4608G>T
13g.51934765C=CA2091550186ATP7Bc.*2039G= (n.*2039G=)
c.*3133G= (n.*3133G=)
c.3768G= (p.Gln1256=)
c.4389G= (p.Gln1463=)
c.4056G= (p.Gln1352=)
c.4137G= (p.Gln1379=)
n.1712G=
c.4155G= (p.Gln1385=)
n.4528G=
n.1255G=
c.3324G= (p.Gln1108=)
c.3099G= (p.Gln1033=)
c.4194G= (p.Gln1398=)
c.2167G=
c.*1490G= (n.*1490G=)
n.5133G=
n.3734G=
c.4245G= (p.Gln1415=)
c.4293G= (p.Gln1431=)
c.4353G= (p.Gln1451=)
c.3903G= (p.Gln1301=)
c.2205G= (p.Gln735=)
c.2022G= (p.Gln674=)
c.4254G= (p.Gln1418=)
c.4206G= (p.Gln1402=)
c.3975G= (p.Gln1325=)
c.3876G= (p.Gln1292=)
c.3057G= (p.Gln1019=)
n.4608G=
13g.51934765C>GCA388018573ATP7Bc.*2039G>C (n.*2039G>C)
c.*3133G>C (n.*3133G>C)
c.3768G>C (p.Gln1256His)
c.4389G>C (p.Gln1463His)
c.4056G>C (p.Gln1352His)
c.4137G>C (p.Gln1379His)
n.1712G>C
c.4155G>C (p.Gln1385His)
n.4528G>C
n.1255G>C
c.3324G>C (p.Gln1108His)
c.3099G>C (p.Gln1033His)
c.4194G>C (p.Gln1398His)
c.2167G>C
c.*1490G>C (n.*1490G>C)
n.5133G>C
n.3734G>C
c.4245G>C (p.Gln1415His)
c.4293G>C (p.Gln1431His)
c.4353G>C (p.Gln1451His)
c.3903G>C (p.Gln1301His)
c.2205G>C (p.Gln735His)
c.2022G>C (p.Gln674His)
c.4254G>C (p.Gln1418His)
c.4206G>C (p.Gln1402His)
c.3975G>C (p.Gln1325His)
c.3876G>C (p.Gln1292His)
c.3057G>C (p.Gln1019His)
n.4608G>C
13g.51934765C>TCA6988408ATP7Bc.*2039G>A (n.*2039G>A)
c.*3133G>A (n.*3133G>A)
c.3768G>A (p.Gln1256=)
c.4389G>A (p.Gln1463=)
c.4056G>A (p.Gln1352=)
c.4137G>A (p.Gln1379=)
n.1712G>A
c.4155G>A (p.Gln1385=)
n.4528G>A
n.1255G>A
c.3324G>A (p.Gln1108=)
c.3099G>A (p.Gln1033=)
c.4194G>A (p.Gln1398=)
c.2167G>A
c.*1490G>A (n.*1490G>A)
n.5133G>A
n.3734G>A
c.4245G>A (p.Gln1415=)
c.4293G>A (p.Gln1431=)
c.4353G>A (p.Gln1451=)
c.3903G>A (p.Gln1301=)
c.2205G>A (p.Gln735=)
c.2022G>A (p.Gln674=)
c.4254G>A (p.Gln1418=)
c.4206G>A (p.Gln1402=)
c.3975G>A (p.Gln1325=)
c.3876G>A (p.Gln1292=)
c.3057G>A (p.Gln1019=)
n.4608G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934766T>ACA388018584ATP7Bc.*2038A>T (n.*2038A>T)
c.*3132A>T (n.*3132A>T)
c.3767A>T (p.Gln1256Leu)
c.4388A>T (p.Gln1463Leu)
c.4055A>T (p.Gln1352Leu)
c.4136A>T (p.Gln1379Leu)
n.1711A>T
c.4154A>T (p.Gln1385Leu)
n.4527A>T
n.1254A>T
c.3323A>T (p.Gln1108Leu)
c.3098A>T (p.Gln1033Leu)
c.4193A>T (p.Gln1398Leu)
c.2166A>T
c.*1489A>T (n.*1489A>T)
n.5132A>T
n.3733A>T
c.4244A>T (p.Gln1415Leu)
c.4292A>T (p.Gln1431Leu)
c.4352A>T (p.Gln1451Leu)
c.3902A>T (p.Gln1301Leu)
c.2204A>T (p.Gln735Leu)
c.2021A>T (p.Gln674Leu)
c.4253A>T (p.Gln1418Leu)
c.4205A>T (p.Gln1402Leu)
c.3974A>T (p.Gln1325Leu)
c.3875A>T (p.Gln1292Leu)
c.3056A>T (p.Gln1019Leu)
n.4607A>T
13g.51934766T>CCA388018587ATP7Bc.*2038A>G (n.*2038A>G)
c.*3132A>G (n.*3132A>G)
c.3767A>G (p.Gln1256Arg)
c.4388A>G (p.Gln1463Arg)
c.4055A>G (p.Gln1352Arg)
c.4136A>G (p.Gln1379Arg)
n.1711A>G
c.4154A>G (p.Gln1385Arg)
n.4527A>G
n.1254A>G
c.3323A>G (p.Gln1108Arg)
c.3098A>G (p.Gln1033Arg)
c.4193A>G (p.Gln1398Arg)
c.2166A>G
c.*1489A>G (n.*1489A>G)
n.5132A>G
n.3733A>G
c.4244A>G (p.Gln1415Arg)
c.4292A>G (p.Gln1431Arg)
c.4352A>G (p.Gln1451Arg)
c.3902A>G (p.Gln1301Arg)
c.2204A>G (p.Gln735Arg)
c.2021A>G (p.Gln674Arg)
c.4253A>G (p.Gln1418Arg)
c.4205A>G (p.Gln1402Arg)
c.3974A>G (p.Gln1325Arg)
c.3875A>G (p.Gln1292Arg)
c.3056A>G (p.Gln1019Arg)
n.4607A>G
 ClinVar dbSNP gnomAD v4
13g.51934766T>GCA6988409ATP7Bc.*2038A>C (n.*2038A>C)
c.*3132A>C (n.*3132A>C)
c.3767A>C (p.Gln1256Pro)
c.4388A>C (p.Gln1463Pro)
c.4055A>C (p.Gln1352Pro)
c.4136A>C (p.Gln1379Pro)
n.1711A>C
c.4154A>C (p.Gln1385Pro)
n.4527A>C
n.1254A>C
c.3323A>C (p.Gln1108Pro)
c.3098A>C (p.Gln1033Pro)
c.4193A>C (p.Gln1398Pro)
c.2166A>C
c.*1489A>C (n.*1489A>C)
n.5132A>C
n.3733A>C
c.4244A>C (p.Gln1415Pro)
c.4292A>C (p.Gln1431Pro)
c.4352A>C (p.Gln1451Pro)
c.3902A>C (p.Gln1301Pro)
c.2204A>C (p.Gln735Pro)
c.2021A>C (p.Gln674Pro)
c.4253A>C (p.Gln1418Pro)
c.4205A>C (p.Gln1402Pro)
c.3974A>C (p.Gln1325Pro)
c.3875A>C (p.Gln1292Pro)
c.3056A>C (p.Gln1019Pro)
n.4607A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934766T=CA2091550188ATP7Bc.*2038A= (n.*2038A=)
c.*3132A= (n.*3132A=)
c.3767A= (p.Gln1256=)
c.4388A= (p.Gln1463=)
c.4055A= (p.Gln1352=)
c.4136A= (p.Gln1379=)
n.1711A=
c.4154A= (p.Gln1385=)
n.4527A=
n.1254A=
c.3323A= (p.Gln1108=)
c.3098A= (p.Gln1033=)
c.4193A= (p.Gln1398=)
c.2166A=
c.*1489A= (n.*1489A=)
n.5132A=
n.3733A=
c.4244A= (p.Gln1415=)
c.4292A= (p.Gln1431=)
c.4352A= (p.Gln1451=)
c.3902A= (p.Gln1301=)
c.2204A= (p.Gln735=)
c.2021A= (p.Gln674=)
c.4253A= (p.Gln1418=)
c.4205A= (p.Gln1402=)
c.3974A= (p.Gln1325=)
c.3875A= (p.Gln1292=)
c.3056A= (p.Gln1019=)
n.4607A=
13g.51934767G>ACA388018598ATP7Bc.*2037C>T (n.*2037C>T)
c.*3131C>T (n.*3131C>T)
c.3766C>T (p.Gln1256Ter)
c.4387C>T (p.Gln1463Ter)
c.4054C>T (p.Gln1352Ter)
c.4135C>T (p.Gln1379Ter)
n.1710C>T
c.4153C>T (p.Gln1385Ter)
n.4526C>T
n.1253C>T
c.3322C>T (p.Gln1108Ter)
c.3097C>T (p.Gln1033Ter)
c.4192C>T (p.Gln1398Ter)
c.2165C>T
c.*1488C>T (n.*1488C>T)
n.5131C>T
n.3732C>T
c.4243C>T (p.Gln1415Ter)
c.4291C>T (p.Gln1431Ter)
c.4351C>T (p.Gln1451Ter)
c.3901C>T (p.Gln1301Ter)
c.2203C>T (p.Gln735Ter)
c.2020C>T (p.Gln674Ter)
c.4252C>T (p.Gln1418Ter)
c.4204C>T (p.Gln1402Ter)
c.3973C>T (p.Gln1325Ter)
c.3874C>T (p.Gln1292Ter)
c.3055C>T (p.Gln1019Ter)
n.4606C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51934767G>CCA388018602ATP7Bc.*2037C>G (n.*2037C>G)
c.*3131C>G (n.*3131C>G)
c.3766C>G (p.Gln1256Glu)
c.4387C>G (p.Gln1463Glu)
c.4054C>G (p.Gln1352Glu)
c.4135C>G (p.Gln1379Glu)
n.1710C>G
c.4153C>G (p.Gln1385Glu)
n.4526C>G
n.1253C>G
c.3322C>G (p.Gln1108Glu)
c.3097C>G (p.Gln1033Glu)
c.4192C>G (p.Gln1398Glu)
c.2165C>G
c.*1488C>G (n.*1488C>G)
n.5131C>G
n.3732C>G
c.4243C>G (p.Gln1415Glu)
c.4291C>G (p.Gln1431Glu)
c.4351C>G (p.Gln1451Glu)
c.3901C>G (p.Gln1301Glu)
c.2203C>G (p.Gln735Glu)
c.2020C>G (p.Gln674Glu)
c.4252C>G (p.Gln1418Glu)
c.4204C>G (p.Gln1402Glu)
c.3973C>G (p.Gln1325Glu)
c.3874C>G (p.Gln1292Glu)
c.3055C>G (p.Gln1019Glu)
n.4606C>G
13g.51934767G=CA2091550189ATP7Bc.*2037C= (n.*2037C=)
c.*3131C= (n.*3131C=)
c.3766C= (p.Gln1256=)
c.4387C= (p.Gln1463=)
c.4054C= (p.Gln1352=)
c.4135C= (p.Gln1379=)
n.1710C=
c.4153C= (p.Gln1385=)
n.4526C=
n.1253C=
c.3322C= (p.Gln1108=)
c.3097C= (p.Gln1033=)
c.4192C= (p.Gln1398=)
c.2165C=
c.*1488C= (n.*1488C=)
n.5131C=
n.3732C=
c.4243C= (p.Gln1415=)
c.4291C= (p.Gln1431=)
c.4351C= (p.Gln1451=)
c.3901C= (p.Gln1301=)
c.2203C= (p.Gln735=)
c.2020C= (p.Gln674=)
c.4252C= (p.Gln1418=)
c.4204C= (p.Gln1402=)
c.3973C= (p.Gln1325=)
c.3874C= (p.Gln1292=)
c.3055C= (p.Gln1019=)
n.4606C=
13g.51934767G>TCA388018607ATP7Bc.*2037C>A (n.*2037C>A)
c.*3131C>A (n.*3131C>A)
c.3766C>A (p.Gln1256Lys)
c.4387C>A (p.Gln1463Lys)
c.4054C>A (p.Gln1352Lys)
c.4135C>A (p.Gln1379Lys)
n.1710C>A
c.4153C>A (p.Gln1385Lys)
n.4526C>A
n.1253C>A
c.3322C>A (p.Gln1108Lys)
c.3097C>A (p.Gln1033Lys)
c.4192C>A (p.Gln1398Lys)
c.2165C>A
c.*1488C>A (n.*1488C>A)
n.5131C>A
n.3732C>A
c.4243C>A (p.Gln1415Lys)
c.4291C>A (p.Gln1431Lys)
c.4351C>A (p.Gln1451Lys)
c.3901C>A (p.Gln1301Lys)
c.2203C>A (p.Gln735Lys)
c.2020C>A (p.Gln674Lys)
c.4252C>A (p.Gln1418Lys)
c.4204C>A (p.Gln1402Lys)
c.3973C>A (p.Gln1325Lys)
c.3874C>A (p.Gln1292Lys)
c.3055C>A (p.Gln1019Lys)
n.4606C>A
13g.51934768C>ACA388018609ATP7Bc.*2036G>T (n.*2036G>T)
c.*3130G>T (n.*3130G>T)
c.3765G>T (p.Glu1255Asp)
c.4386G>T (p.Glu1462Asp)
c.4053G>T (p.Glu1351Asp)
c.4134G>T (p.Glu1378Asp)
n.1709G>T
c.4152G>T (p.Glu1384Asp)
n.4525G>T
n.1252G>T
c.3321G>T (p.Glu1107Asp)
c.3096G>T (p.Glu1032Asp)
c.4191G>T (p.Glu1397Asp)
c.2164G>T
c.*1487G>T (n.*1487G>T)
n.5130G>T
n.3731G>T
c.4242G>T (p.Glu1414Asp)
c.4290G>T (p.Glu1430Asp)
c.4350G>T (p.Glu1450Asp)
c.3900G>T (p.Glu1300Asp)
c.2202G>T (p.Glu734Asp)
c.2019G>T (p.Glu673Asp)
c.4251G>T (p.Glu1417Asp)
c.4203G>T (p.Glu1401Asp)
c.3972G>T (p.Glu1324Asp)
c.3873G>T (p.Glu1291Asp)
c.3054G>T (p.Glu1018Asp)
n.4605G>T
 dbSNP gnomAD v2 gnomAD v4
13g.51934768C=CA2091550190ATP7Bc.*2036G= (n.*2036G=)
c.*3130G= (n.*3130G=)
c.3765G= (p.Glu1255=)
c.4386G= (p.Glu1462=)
c.4053G= (p.Glu1351=)
c.4134G= (p.Glu1378=)
n.1709G=
c.4152G= (p.Glu1384=)
n.4525G=
n.1252G=
c.3321G= (p.Glu1107=)
c.3096G= (p.Glu1032=)
c.4191G= (p.Glu1397=)
c.2164G=
c.*1487G= (n.*1487G=)
n.5130G=
n.3731G=
c.4242G= (p.Glu1414=)
c.4290G= (p.Glu1430=)
c.4350G= (p.Glu1450=)
c.3900G= (p.Glu1300=)
c.2202G= (p.Glu734=)
c.2019G= (p.Glu673=)
c.4251G= (p.Glu1417=)
c.4203G= (p.Glu1401=)
c.3972G= (p.Glu1324=)
c.3873G= (p.Glu1291=)
c.3054G= (p.Glu1018=)
n.4605G=
13g.51934768C>GCA388018611ATP7Bc.*2036G>C (n.*2036G>C)
c.*3130G>C (n.*3130G>C)
c.3765G>C (p.Glu1255Asp)
c.4386G>C (p.Glu1462Asp)
c.4053G>C (p.Glu1351Asp)
c.4134G>C (p.Glu1378Asp)
n.1709G>C
c.4152G>C (p.Glu1384Asp)
n.4525G>C
n.1252G>C
c.3321G>C (p.Glu1107Asp)
c.3096G>C (p.Glu1032Asp)
c.4191G>C (p.Glu1397Asp)
c.2164G>C
c.*1487G>C (n.*1487G>C)
n.5130G>C
n.3731G>C
c.4242G>C (p.Glu1414Asp)
c.4290G>C (p.Glu1430Asp)
c.4350G>C (p.Glu1450Asp)
c.3900G>C (p.Glu1300Asp)
c.2202G>C (p.Glu734Asp)
c.2019G>C (p.Glu673Asp)
c.4251G>C (p.Glu1417Asp)
c.4203G>C (p.Glu1401Asp)
c.3972G>C (p.Glu1324Asp)
c.3873G>C (p.Glu1291Asp)
c.3054G>C (p.Glu1018Asp)
n.4605G>C
13g.51934768C>TCA483892051ATP7Bc.*2036G>A (n.*2036G>A)
c.*3130G>A (n.*3130G>A)
c.3765G>A (p.Glu1255=)
c.4386G>A (p.Glu1462=)
c.4053G>A (p.Glu1351=)
c.4134G>A (p.Glu1378=)
n.1709G>A
c.4152G>A (p.Glu1384=)
n.4525G>A
n.1252G>A
c.3321G>A (p.Glu1107=)
c.3096G>A (p.Glu1032=)
c.4191G>A (p.Glu1397=)
c.2164G>A
c.*1487G>A (n.*1487G>A)
n.5130G>A
n.3731G>A
c.4242G>A (p.Glu1414=)
c.4290G>A (p.Glu1430=)
c.4350G>A (p.Glu1450=)
c.3900G>A (p.Glu1300=)
c.2202G>A (p.Glu734=)
c.2019G>A (p.Glu673=)
c.4251G>A (p.Glu1417=)
c.4203G>A (p.Glu1401=)
c.3972G>A (p.Glu1324=)
c.3873G>A (p.Glu1291=)
c.3054G>A (p.Glu1018=)
n.4605G>A
 ClinVar dbSNP gnomAD v4
13g.51934769T>ACA388018616ATP7Bc.*2035A>T (n.*2035A>T)
c.*3129A>T (n.*3129A>T)
c.3764A>T (p.Glu1255Val)
c.4385A>T (p.Glu1462Val)
c.4052A>T (p.Glu1351Val)
c.4133A>T (p.Glu1378Val)
n.1708A>T
c.4151A>T (p.Glu1384Val)
n.4524A>T
n.1251A>T
c.3320A>T (p.Glu1107Val)
c.3095A>T (p.Glu1032Val)
c.4190A>T (p.Glu1397Val)
c.2163A>T
c.*1486A>T (n.*1486A>T)
n.5129A>T
n.3730A>T
c.4241A>T (p.Glu1414Val)
c.4289A>T (p.Glu1430Val)
c.4349A>T (p.Glu1450Val)
c.3899A>T (p.Glu1300Val)
c.2201A>T (p.Glu734Val)
c.2018A>T (p.Glu673Val)
c.4250A>T (p.Glu1417Val)
c.4202A>T (p.Glu1401Val)
c.3971A>T (p.Glu1324Val)
c.3872A>T (p.Glu1291Val)
c.3053A>T (p.Glu1018Val)
n.4604A>T
13g.51934769T>CCA388018618ATP7Bc.*2035A>G (n.*2035A>G)
c.*3129A>G (n.*3129A>G)
c.3764A>G (p.Glu1255Gly)
c.4385A>G (p.Glu1462Gly)
c.4052A>G (p.Glu1351Gly)
c.4133A>G (p.Glu1378Gly)
n.1708A>G
c.4151A>G (p.Glu1384Gly)
n.4524A>G
n.1251A>G
c.3320A>G (p.Glu1107Gly)
c.3095A>G (p.Glu1032Gly)
c.4190A>G (p.Glu1397Gly)
c.2163A>G
c.*1486A>G (n.*1486A>G)
n.5129A>G
n.3730A>G
c.4241A>G (p.Glu1414Gly)
c.4289A>G (p.Glu1430Gly)
c.4349A>G (p.Glu1450Gly)
c.3899A>G (p.Glu1300Gly)
c.2201A>G (p.Glu734Gly)
c.2018A>G (p.Glu673Gly)
c.4250A>G (p.Glu1417Gly)
c.4202A>G (p.Glu1401Gly)
c.3971A>G (p.Glu1324Gly)
c.3872A>G (p.Glu1291Gly)
c.3053A>G (p.Glu1018Gly)
n.4604A>G
13g.51934769T>GCA388018620ATP7Bc.*2035A>C (n.*2035A>C)
c.*3129A>C (n.*3129A>C)
c.3764A>C (p.Glu1255Ala)
c.4385A>C (p.Glu1462Ala)
c.4052A>C (p.Glu1351Ala)
c.4133A>C (p.Glu1378Ala)
n.1708A>C
c.4151A>C (p.Glu1384Ala)
n.4524A>C
n.1251A>C
c.3320A>C (p.Glu1107Ala)
c.3095A>C (p.Glu1032Ala)
c.4190A>C (p.Glu1397Ala)
c.2163A>C
c.*1486A>C (n.*1486A>C)
n.5129A>C
n.3730A>C
c.4241A>C (p.Glu1414Ala)
c.4289A>C (p.Glu1430Ala)
c.4349A>C (p.Glu1450Ala)
c.3899A>C (p.Glu1300Ala)
c.2201A>C (p.Glu734Ala)
c.2018A>C (p.Glu673Ala)
c.4250A>C (p.Glu1417Ala)
c.4202A>C (p.Glu1401Ala)
c.3971A>C (p.Glu1324Ala)
c.3872A>C (p.Glu1291Ala)
c.3053A>C (p.Glu1018Ala)
n.4604A>C
13g.51934770C>ACA388018625ATP7Bc.*2034G>T (n.*2034G>T)
c.*3128G>T (n.*3128G>T)
c.3763G>T (p.Glu1255Ter)
c.4384G>T (p.Glu1462Ter)
c.4051G>T (p.Glu1351Ter)
c.4132G>T (p.Glu1378Ter)
n.1707G>T
c.4150G>T (p.Glu1384Ter)
n.4523G>T
n.1250G>T
c.3319G>T (p.Glu1107Ter)
c.3094G>T (p.Glu1032Ter)
c.4189G>T (p.Glu1397Ter)
c.2162G>T
c.*1485G>T (n.*1485G>T)
n.5128G>T
n.3729G>T
c.4240G>T (p.Glu1414Ter)
c.4288G>T (p.Glu1430Ter)
c.4348G>T (p.Glu1450Ter)
c.3898G>T (p.Glu1300Ter)
c.2200G>T (p.Glu734Ter)
c.2017G>T (p.Glu673Ter)
c.4249G>T (p.Glu1417Ter)
c.4201G>T (p.Glu1401Ter)
c.3970G>T (p.Glu1324Ter)
c.3871G>T (p.Glu1291Ter)
c.3052G>T (p.Glu1018Ter)
n.4603G>T
13g.51934770C=CA2091550191ATP7Bc.*2034G= (n.*2034G=)
c.*3128G= (n.*3128G=)
c.3763G= (p.Glu1255=)
c.4384G= (p.Glu1462=)
c.4051G= (p.Glu1351=)
c.4132G= (p.Glu1378=)
n.1707G=
c.4150G= (p.Glu1384=)
n.4523G=
n.1250G=
c.3319G= (p.Glu1107=)
c.3094G= (p.Glu1032=)
c.4189G= (p.Glu1397=)
c.2162G=
c.*1485G= (n.*1485G=)
n.5128G=
n.3729G=
c.4240G= (p.Glu1414=)
c.4288G= (p.Glu1430=)
c.4348G= (p.Glu1450=)
c.3898G= (p.Glu1300=)
c.2200G= (p.Glu734=)
c.2017G= (p.Glu673=)
c.4249G= (p.Glu1417=)
c.4201G= (p.Glu1401=)
c.3970G= (p.Glu1324=)
c.3871G= (p.Glu1291=)
c.3052G= (p.Glu1018=)
n.4603G=
13g.51934770C>GCA388018629ATP7Bc.*2034G>C (n.*2034G>C)
c.*3128G>C (n.*3128G>C)
c.3763G>C (p.Glu1255Gln)
c.4384G>C (p.Glu1462Gln)
c.4051G>C (p.Glu1351Gln)
c.4132G>C (p.Glu1378Gln)
n.1707G>C
c.4150G>C (p.Glu1384Gln)
n.4523G>C
n.1250G>C
c.3319G>C (p.Glu1107Gln)
c.3094G>C (p.Glu1032Gln)
c.4189G>C (p.Glu1397Gln)
c.2162G>C
c.*1485G>C (n.*1485G>C)
n.5128G>C
n.3729G>C
c.4240G>C (p.Glu1414Gln)
c.4288G>C (p.Glu1430Gln)
c.4348G>C (p.Glu1450Gln)
c.3898G>C (p.Glu1300Gln)
c.2200G>C (p.Glu734Gln)
c.2017G>C (p.Glu673Gln)
c.4249G>C (p.Glu1417Gln)
c.4201G>C (p.Glu1401Gln)
c.3970G>C (p.Glu1324Gln)
c.3871G>C (p.Glu1291Gln)
c.3052G>C (p.Glu1018Gln)
n.4603G>C
 dbSNP
13g.51934770C>TCA388018623ATP7Bc.*2034G>A (n.*2034G>A)
c.*3128G>A (n.*3128G>A)
c.3763G>A (p.Glu1255Lys)
c.4384G>A (p.Glu1462Lys)
c.4051G>A (p.Glu1351Lys)
c.4132G>A (p.Glu1378Lys)
n.1707G>A
c.4150G>A (p.Glu1384Lys)
n.4523G>A
n.1250G>A
c.3319G>A (p.Glu1107Lys)
c.3094G>A (p.Glu1032Lys)
c.4189G>A (p.Glu1397Lys)
c.2162G>A
c.*1485G>A (n.*1485G>A)
n.5128G>A
n.3729G>A
c.4240G>A (p.Glu1414Lys)
c.4288G>A (p.Glu1430Lys)
c.4348G>A (p.Glu1450Lys)
c.3898G>A (p.Glu1300Lys)
c.2200G>A (p.Glu734Lys)
c.2017G>A (p.Glu673Lys)
c.4249G>A (p.Glu1417Lys)
c.4201G>A (p.Glu1401Lys)
c.3970G>A (p.Glu1324Lys)
c.3871G>A (p.Glu1291Lys)
c.3052G>A (p.Glu1018Lys)
n.4603G>A
 dbSNP gnomAD v4 COSMIC
13g.51934771C>ACA388018634ATP7Bc.*2033G>T (n.*2033G>T)
c.*3127G>T (n.*3127G>T)
c.3762G>T (p.Glu1254Asp)
c.4383G>T (p.Glu1461Asp)
c.4050G>T (p.Glu1350Asp)
c.4131G>T (p.Glu1377Asp)
n.1706G>T
c.4149G>T (p.Glu1383Asp)
n.4522G>T
n.1249G>T
c.3318G>T (p.Glu1106Asp)
c.3093G>T (p.Glu1031Asp)
c.4188G>T (p.Glu1396Asp)
c.2161G>T
c.*1484G>T (n.*1484G>T)
n.5127G>T
n.3728G>T
c.4239G>T (p.Glu1413Asp)
c.4287G>T (p.Glu1429Asp)
c.4347G>T (p.Glu1449Asp)
c.3897G>T (p.Glu1299Asp)
c.2199G>T (p.Glu733Asp)
c.2016G>T (p.Glu672Asp)
c.4248G>T (p.Glu1416Asp)
c.4200G>T (p.Glu1400Asp)
c.3969G>T (p.Glu1323Asp)
c.3870G>T (p.Glu1290Asp)
c.3051G>T (p.Glu1017Asp)
n.4602G>T
13g.51934771C>GCA388018638ATP7Bc.*2033G>C (n.*2033G>C)
c.*3127G>C (n.*3127G>C)
c.3762G>C (p.Glu1254Asp)
c.4383G>C (p.Glu1461Asp)
c.4050G>C (p.Glu1350Asp)
c.4131G>C (p.Glu1377Asp)
n.1706G>C
c.4149G>C (p.Glu1383Asp)
n.4522G>C
n.1249G>C
c.3318G>C (p.Glu1106Asp)
c.3093G>C (p.Glu1031Asp)
c.4188G>C (p.Glu1396Asp)
c.2161G>C
c.*1484G>C (n.*1484G>C)
n.5127G>C
n.3728G>C
c.4239G>C (p.Glu1413Asp)
c.4287G>C (p.Glu1429Asp)
c.4347G>C (p.Glu1449Asp)
c.3897G>C (p.Glu1299Asp)
c.2199G>C (p.Glu733Asp)
c.2016G>C (p.Glu672Asp)
c.4248G>C (p.Glu1416Asp)
c.4200G>C (p.Glu1400Asp)
c.3969G>C (p.Glu1323Asp)
c.3870G>C (p.Glu1290Asp)
c.3051G>C (p.Glu1017Asp)
n.4602G>C
13g.51934771C>TCA483892071ATP7Bc.*2033G>A (n.*2033G>A)
c.*3127G>A (n.*3127G>A)
c.3762G>A (p.Glu1254=)
c.4383G>A (p.Glu1461=)
c.4050G>A (p.Glu1350=)
c.4131G>A (p.Glu1377=)
n.1706G>A
c.4149G>A (p.Glu1383=)
n.4522G>A
n.1249G>A
c.3318G>A (p.Glu1106=)
c.3093G>A (p.Glu1031=)
c.4188G>A (p.Glu1396=)
c.2161G>A
c.*1484G>A (n.*1484G>A)
n.5127G>A
n.3728G>A
c.4239G>A (p.Glu1413=)
c.4287G>A (p.Glu1429=)
c.4347G>A (p.Glu1449=)
c.3897G>A (p.Glu1299=)
c.2199G>A (p.Glu733=)
c.2016G>A (p.Glu672=)
c.4248G>A (p.Glu1416=)
c.4200G>A (p.Glu1400=)
c.3969G>A (p.Glu1323=)
c.3870G>A (p.Glu1290=)
c.3051G>A (p.Glu1017=)
n.4602G>A
 gnomAD v4
13g.51934772T>ACA388018646ATP7Bc.*2032A>T (n.*2032A>T)
c.*3126A>T (n.*3126A>T)
c.3761A>T (p.Glu1254Val)
c.4382A>T (p.Glu1461Val)
c.4049A>T (p.Glu1350Val)
c.4130A>T (p.Glu1377Val)
n.1705A>T
c.4148A>T (p.Glu1383Val)
n.4521A>T
n.1248A>T
c.3317A>T (p.Glu1106Val)
c.3092A>T (p.Glu1031Val)
c.4187A>T (p.Glu1396Val)
c.2160A>T
c.*1483A>T (n.*1483A>T)
n.5126A>T
n.3727A>T
c.4238A>T (p.Glu1413Val)
c.4286A>T (p.Glu1429Val)
c.4346A>T (p.Glu1449Val)
c.3896A>T (p.Glu1299Val)
c.2198A>T (p.Glu733Val)
c.2015A>T (p.Glu672Val)
c.4247A>T (p.Glu1416Val)
c.4199A>T (p.Glu1400Val)
c.3968A>T (p.Glu1323Val)
c.3869A>T (p.Glu1290Val)
c.3050A>T (p.Glu1017Val)
n.4601A>T
13g.51934772T>CCA388018649ATP7Bc.*2032A>G (n.*2032A>G)
c.*3126A>G (n.*3126A>G)
c.3761A>G (p.Glu1254Gly)
c.4382A>G (p.Glu1461Gly)
c.4049A>G (p.Glu1350Gly)
c.4130A>G (p.Glu1377Gly)
n.1705A>G
c.4148A>G (p.Glu1383Gly)
n.4521A>G
n.1248A>G
c.3317A>G (p.Glu1106Gly)
c.3092A>G (p.Glu1031Gly)
c.4187A>G (p.Glu1396Gly)
c.2160A>G
c.*1483A>G (n.*1483A>G)
n.5126A>G
n.3727A>G
c.4238A>G (p.Glu1413Gly)
c.4286A>G (p.Glu1429Gly)
c.4346A>G (p.Glu1449Gly)
c.3896A>G (p.Glu1299Gly)
c.2198A>G (p.Glu733Gly)
c.2015A>G (p.Glu672Gly)
c.4247A>G (p.Glu1416Gly)
c.4199A>G (p.Glu1400Gly)
c.3968A>G (p.Glu1323Gly)
c.3869A>G (p.Glu1290Gly)
c.3050A>G (p.Glu1017Gly)
n.4601A>G
13g.51934772T>GCA388018653ATP7Bc.*2032A>C (n.*2032A>C)
c.*3126A>C (n.*3126A>C)
c.3761A>C (p.Glu1254Ala)
c.4382A>C (p.Glu1461Ala)
c.4049A>C (p.Glu1350Ala)
c.4130A>C (p.Glu1377Ala)
n.1705A>C
c.4148A>C (p.Glu1383Ala)
n.4521A>C
n.1248A>C
c.3317A>C (p.Glu1106Ala)
c.3092A>C (p.Glu1031Ala)
c.4187A>C (p.Glu1396Ala)
c.2160A>C
c.*1483A>C (n.*1483A>C)
n.5126A>C
n.3727A>C
c.4238A>C (p.Glu1413Ala)
c.4286A>C (p.Glu1429Ala)
c.4346A>C (p.Glu1449Ala)
c.3896A>C (p.Glu1299Ala)
c.2198A>C (p.Glu733Ala)
c.2015A>C (p.Glu672Ala)
c.4247A>C (p.Glu1416Ala)
c.4199A>C (p.Glu1400Ala)
c.3968A>C (p.Glu1323Ala)
c.3869A>C (p.Glu1290Ala)
c.3050A>C (p.Glu1017Ala)
n.4601A>C
13g.51934773C>ACA388018658ATP7Bc.*2031G>T (n.*2031G>T)
c.*3125G>T (n.*3125G>T)
c.3760G>T (p.Glu1254Ter)
c.4381G>T (p.Glu1461Ter)
c.4048G>T (p.Glu1350Ter)
c.4129G>T (p.Glu1377Ter)
n.1704G>T
c.4147G>T (p.Glu1383Ter)
n.4520G>T
n.1247G>T
c.3316G>T (p.Glu1106Ter)
c.3091G>T (p.Glu1031Ter)
c.4186G>T (p.Glu1396Ter)
c.2159G>T
c.*1482G>T (n.*1482G>T)
n.5125G>T
n.3726G>T
c.4237G>T (p.Glu1413Ter)
c.4285G>T (p.Glu1429Ter)
c.4345G>T (p.Glu1449Ter)
c.3895G>T (p.Glu1299Ter)
c.2197G>T (p.Glu733Ter)
c.2014G>T (p.Glu672Ter)
c.4246G>T (p.Glu1416Ter)
c.4198G>T (p.Glu1400Ter)
c.3967G>T (p.Glu1323Ter)
c.3868G>T (p.Glu1290Ter)
c.3049G>T (p.Glu1017Ter)
n.4600G>T
13g.51934773C>GCA388018660ATP7Bc.*2031G>C (n.*2031G>C)
c.*3125G>C (n.*3125G>C)
c.3760G>C (p.Glu1254Gln)
c.4381G>C (p.Glu1461Gln)
c.4048G>C (p.Glu1350Gln)
c.4129G>C (p.Glu1377Gln)
n.1704G>C
c.4147G>C (p.Glu1383Gln)
n.4520G>C
n.1247G>C
c.3316G>C (p.Glu1106Gln)
c.3091G>C (p.Glu1031Gln)
c.4186G>C (p.Glu1396Gln)
c.2159G>C
c.*1482G>C (n.*1482G>C)
n.5125G>C
n.3726G>C
c.4237G>C (p.Glu1413Gln)
c.4285G>C (p.Glu1429Gln)
c.4345G>C (p.Glu1449Gln)
c.3895G>C (p.Glu1299Gln)
c.2197G>C (p.Glu733Gln)
c.2014G>C (p.Glu672Gln)
c.4246G>C (p.Glu1416Gln)
c.4198G>C (p.Glu1400Gln)
c.3967G>C (p.Glu1323Gln)
c.3868G>C (p.Glu1290Gln)
c.3049G>C (p.Glu1017Gln)
n.4600G>C
13g.51934773C>TCA388018663ATP7Bc.*2031G>A (n.*2031G>A)
c.*3125G>A (n.*3125G>A)
c.3760G>A (p.Glu1254Lys)
c.4381G>A (p.Glu1461Lys)
c.4048G>A (p.Glu1350Lys)
c.4129G>A (p.Glu1377Lys)
n.1704G>A
c.4147G>A (p.Glu1383Lys)
n.4520G>A
n.1247G>A
c.3316G>A (p.Glu1106Lys)
c.3091G>A (p.Glu1031Lys)
c.4186G>A (p.Glu1396Lys)
c.2159G>A
c.*1482G>A (n.*1482G>A)
n.5125G>A
n.3726G>A
c.4237G>A (p.Glu1413Lys)
c.4285G>A (p.Glu1429Lys)
c.4345G>A (p.Glu1449Lys)
c.3895G>A (p.Glu1299Lys)
c.2197G>A (p.Glu733Lys)
c.2014G>A (p.Glu672Lys)
c.4246G>A (p.Glu1416Lys)
c.4198G>A (p.Glu1400Lys)
c.3967G>A (p.Glu1323Lys)
c.3868G>A (p.Glu1290Lys)
c.3049G>A (p.Glu1017Lys)
n.4600G>A
13g.51934774A>CCA388018667ATP7Bc.*2030T>G (n.*2030T>G)
c.*3124T>G (n.*3124T>G)
c.3759T>G (p.Asp1253Glu)
c.4380T>G (p.Asp1460Glu)
c.4047T>G (p.Asp1349Glu)
c.4128T>G (p.Asp1376Glu)
n.1703T>G
c.4146T>G (p.Asp1382Glu)
n.4519T>G
n.1246T>G
c.3315T>G (p.Asp1105Glu)
c.3090T>G (p.Asp1030Glu)
c.4185T>G (p.Asp1395Glu)
c.2158T>G
c.*1481T>G (n.*1481T>G)
n.5124T>G
n.3725T>G
c.4236T>G (p.Asp1412Glu)
c.4284T>G (p.Asp1428Glu)
c.4344T>G (p.Asp1448Glu)
c.3894T>G (p.Asp1298Glu)
c.2196T>G (p.Asp732Glu)
c.2013T>G (p.Asp671Glu)
c.4245T>G (p.Asp1415Glu)
c.4197T>G (p.Asp1399Glu)
c.3966T>G (p.Asp1322Glu)
c.3867T>G (p.Asp1289Glu)
c.3048T>G (p.Asp1016Glu)
n.4599T>G
13g.51934774A>GCA483892089ATP7Bc.*2030T>C (n.*2030T>C)
c.*3124T>C (n.*3124T>C)
c.3759T>C (p.Asp1253=)
c.4380T>C (p.Asp1460=)
c.4047T>C (p.Asp1349=)
c.4128T>C (p.Asp1376=)
n.1703T>C
c.4146T>C (p.Asp1382=)
n.4519T>C
n.1246T>C
c.3315T>C (p.Asp1105=)
c.3090T>C (p.Asp1030=)
c.4185T>C (p.Asp1395=)
c.2158T>C
c.*1481T>C (n.*1481T>C)
n.5124T>C
n.3725T>C
c.4236T>C (p.Asp1412=)
c.4284T>C (p.Asp1428=)
c.4344T>C (p.Asp1448=)
c.3894T>C (p.Asp1298=)
c.2196T>C (p.Asp732=)
c.2013T>C (p.Asp671=)
c.4245T>C (p.Asp1415=)
c.4197T>C (p.Asp1399=)
c.3966T>C (p.Asp1322=)
c.3867T>C (p.Asp1289=)
c.3048T>C (p.Asp1016=)
n.4599T>C
 ClinVar
13g.51934774A>TCA388018671ATP7Bc.*2030T>A (n.*2030T>A)
c.*3124T>A (n.*3124T>A)
c.3759T>A (p.Asp1253Glu)
c.4380T>A (p.Asp1460Glu)
c.4047T>A (p.Asp1349Glu)
c.4128T>A (p.Asp1376Glu)
n.1703T>A
c.4146T>A (p.Asp1382Glu)
n.4519T>A
n.1246T>A
c.3315T>A (p.Asp1105Glu)
c.3090T>A (p.Asp1030Glu)
c.4185T>A (p.Asp1395Glu)
c.2158T>A
c.*1481T>A (n.*1481T>A)
n.5124T>A
n.3725T>A
c.4236T>A (p.Asp1412Glu)
c.4284T>A (p.Asp1428Glu)
c.4344T>A (p.Asp1448Glu)
c.3894T>A (p.Asp1298Glu)
c.2196T>A (p.Asp732Glu)
c.2013T>A (p.Asp671Glu)
c.4245T>A (p.Asp1415Glu)
c.4197T>A (p.Asp1399Glu)
c.3966T>A (p.Asp1322Glu)
c.3867T>A (p.Asp1289Glu)
c.3048T>A (p.Asp1016Glu)
n.4599T>A
13g.51934775T>ACA388018674ATP7Bc.*2029A>T (n.*2029A>T)
c.*3123A>T (n.*3123A>T)
c.3758A>T (p.Asp1253Val)
c.4379A>T (p.Asp1460Val)
c.4046A>T (p.Asp1349Val)
c.4127A>T (p.Asp1376Val)
n.1702A>T
c.4145A>T (p.Asp1382Val)
n.4518A>T
n.1245A>T
c.3314A>T (p.Asp1105Val)
c.3089A>T (p.Asp1030Val)
c.4184A>T (p.Asp1395Val)
c.2157A>T
c.*1480A>T (n.*1480A>T)
n.5123A>T
n.3724A>T
c.4235A>T (p.Asp1412Val)
c.4283A>T (p.Asp1428Val)
c.4343A>T (p.Asp1448Val)
c.3893A>T (p.Asp1298Val)
c.2195A>T (p.Asp732Val)
c.2012A>T (p.Asp671Val)
c.4244A>T (p.Asp1415Val)
c.4196A>T (p.Asp1399Val)
c.3965A>T (p.Asp1322Val)
c.3866A>T (p.Asp1289Val)
c.3047A>T (p.Asp1016Val)
n.4598A>T
13g.51934775T>CCA388018678ATP7Bc.*2029A>G (n.*2029A>G)
c.*3123A>G (n.*3123A>G)
c.3758A>G (p.Asp1253Gly)
c.4379A>G (p.Asp1460Gly)
c.4046A>G (p.Asp1349Gly)
c.4127A>G (p.Asp1376Gly)
n.1702A>G
c.4145A>G (p.Asp1382Gly)
n.4518A>G
n.1245A>G
c.3314A>G (p.Asp1105Gly)
c.3089A>G (p.Asp1030Gly)
c.4184A>G (p.Asp1395Gly)
c.2157A>G
c.*1480A>G (n.*1480A>G)
n.5123A>G
n.3724A>G
c.4235A>G (p.Asp1412Gly)
c.4283A>G (p.Asp1428Gly)
c.4343A>G (p.Asp1448Gly)
c.3893A>G (p.Asp1298Gly)
c.2195A>G (p.Asp732Gly)
c.2012A>G (p.Asp671Gly)
c.4244A>G (p.Asp1415Gly)
c.4196A>G (p.Asp1399Gly)
c.3965A>G (p.Asp1322Gly)
c.3866A>G (p.Asp1289Gly)
c.3047A>G (p.Asp1016Gly)
n.4598A>G
 ClinVar dbSNP gnomAD v4
13g.51934775T>GCA388018686ATP7Bc.*2029A>C (n.*2029A>C)
c.*3123A>C (n.*3123A>C)
c.3758A>C (p.Asp1253Ala)
c.4379A>C (p.Asp1460Ala)
c.4046A>C (p.Asp1349Ala)
c.4127A>C (p.Asp1376Ala)
n.1702A>C
c.4145A>C (p.Asp1382Ala)
n.4518A>C
n.1245A>C
c.3314A>C (p.Asp1105Ala)
c.3089A>C (p.Asp1030Ala)
c.4184A>C (p.Asp1395Ala)
c.2157A>C
c.*1480A>C (n.*1480A>C)
n.5123A>C
n.3724A>C
c.4235A>C (p.Asp1412Ala)
c.4283A>C (p.Asp1428Ala)
c.4343A>C (p.Asp1448Ala)
c.3893A>C (p.Asp1298Ala)
c.2195A>C (p.Asp732Ala)
c.2012A>C (p.Asp671Ala)
c.4244A>C (p.Asp1415Ala)
c.4196A>C (p.Asp1399Ala)
c.3965A>C (p.Asp1322Ala)
c.3866A>C (p.Asp1289Ala)
c.3047A>C (p.Asp1016Ala)
n.4598A>C
13g.51934775T=CA2091550194ATP7Bc.*2029A= (n.*2029A=)
c.*3123A= (n.*3123A=)
c.3758A= (p.Asp1253=)
c.4379A= (p.Asp1460=)
c.4046A= (p.Asp1349=)
c.4127A= (p.Asp1376=)
n.1702A=
c.4145A= (p.Asp1382=)
n.4518A=
n.1245A=
c.3314A= (p.Asp1105=)
c.3089A= (p.Asp1030=)
c.4184A= (p.Asp1395=)
c.2157A=
c.*1480A= (n.*1480A=)
n.5123A=
n.3724A=
c.4235A= (p.Asp1412=)
c.4283A= (p.Asp1428=)
c.4343A= (p.Asp1448=)
c.3893A= (p.Asp1298=)
c.2195A= (p.Asp732=)
c.2012A= (p.Asp671=)
c.4244A= (p.Asp1415=)
c.4196A= (p.Asp1399=)
c.3965A= (p.Asp1322=)
c.3866A= (p.Asp1289=)
c.3047A= (p.Asp1016=)
n.4598A=
13g.51934776C>ACA388018698ATP7Bc.*2028G>T (n.*2028G>T)
c.*3122G>T (n.*3122G>T)
c.3757G>T (p.Asp1253Tyr)
c.4378G>T (p.Asp1460Tyr)
c.4045G>T (p.Asp1349Tyr)
c.4126G>T (p.Asp1376Tyr)
n.1701G>T
c.4144G>T (p.Asp1382Tyr)
n.4517G>T
n.1244G>T
c.3313G>T (p.Asp1105Tyr)
c.3088G>T (p.Asp1030Tyr)
c.4183G>T (p.Asp1395Tyr)
c.2156G>T
c.*1479G>T (n.*1479G>T)
n.5122G>T
n.3723G>T
c.4234G>T (p.Asp1412Tyr)
c.4282G>T (p.Asp1428Tyr)
c.4342G>T (p.Asp1448Tyr)
c.3892G>T (p.Asp1298Tyr)
c.2194G>T (p.Asp732Tyr)
c.2011G>T (p.Asp671Tyr)
c.4243G>T (p.Asp1415Tyr)
c.4195G>T (p.Asp1399Tyr)
c.3964G>T (p.Asp1322Tyr)
c.3865G>T (p.Asp1289Tyr)
c.3046G>T (p.Asp1016Tyr)
n.4597G>T
13g.51934776C>GCA388018693ATP7Bc.*2028G>C (n.*2028G>C)
c.*3122G>C (n.*3122G>C)
c.3757G>C (p.Asp1253His)
c.4378G>C (p.Asp1460His)
c.4045G>C (p.Asp1349His)
c.4126G>C (p.Asp1376His)
n.1701G>C
c.4144G>C (p.Asp1382His)
n.4517G>C
n.1244G>C
c.3313G>C (p.Asp1105His)
c.3088G>C (p.Asp1030His)
c.4183G>C (p.Asp1395His)
c.2156G>C
c.*1479G>C (n.*1479G>C)
n.5122G>C
n.3723G>C
c.4234G>C (p.Asp1412His)
c.4282G>C (p.Asp1428His)
c.4342G>C (p.Asp1448His)
c.3892G>C (p.Asp1298His)
c.2194G>C (p.Asp732His)
c.2011G>C (p.Asp671His)
c.4243G>C (p.Asp1415His)
c.4195G>C (p.Asp1399His)
c.3964G>C (p.Asp1322His)
c.3865G>C (p.Asp1289His)
c.3046G>C (p.Asp1016His)
n.4597G>C
13g.51934776C>TCA388018690ATP7Bc.*2028G>A (n.*2028G>A)
c.*3122G>A (n.*3122G>A)
c.3757G>A (p.Asp1253Asn)
c.4378G>A (p.Asp1460Asn)
c.4045G>A (p.Asp1349Asn)
c.4126G>A (p.Asp1376Asn)
n.1701G>A
c.4144G>A (p.Asp1382Asn)
n.4517G>A
n.1244G>A
c.3313G>A (p.Asp1105Asn)
c.3088G>A (p.Asp1030Asn)
c.4183G>A (p.Asp1395Asn)
c.2156G>A
c.*1479G>A (n.*1479G>A)
n.5122G>A
n.3723G>A
c.4234G>A (p.Asp1412Asn)
c.4282G>A (p.Asp1428Asn)
c.4342G>A (p.Asp1448Asn)
c.3892G>A (p.Asp1298Asn)
c.2194G>A (p.Asp732Asn)
c.2011G>A (p.Asp671Asn)
c.4243G>A (p.Asp1415Asn)
c.4195G>A (p.Asp1399Asn)
c.3964G>A (p.Asp1322Asn)
c.3865G>A (p.Asp1289Asn)
c.3046G>A (p.Asp1016Asn)
n.4597G>A
13g.51934777C>ACA388018716ATP7Bc.*2027G>T (n.*2027G>T)
c.*3121G>T (n.*3121G>T)
c.3756G>T (p.Arg1252Ser)
c.4377G>T (p.Arg1459Ser)
c.4044G>T (p.Arg1348Ser)
c.4125G>T (p.Arg1375Ser)
n.1700G>T
c.4143G>T (p.Arg1381Ser)
n.4516G>T
n.1243G>T
c.3312G>T (p.Arg1104Ser)
c.3087G>T (p.Arg1029Ser)
c.4182G>T (p.Arg1394Ser)
c.2155G>T
c.*1478G>T (n.*1478G>T)
n.5121G>T
n.3722G>T
c.4233G>T (p.Arg1411Ser)
c.4281G>T (p.Arg1427Ser)
c.4341G>T (p.Arg1447Ser)
c.3891G>T (p.Arg1297Ser)
c.2193G>T (p.Arg731Ser)
c.2010G>T (p.Arg670Ser)
c.4242G>T (p.Arg1414Ser)
c.4194G>T (p.Arg1398Ser)
c.3963G>T (p.Arg1321Ser)
c.3864G>T (p.Arg1288Ser)
c.3045G>T (p.Arg1015Ser)
n.4596G>T
13g.51934777C>GCA388018718ATP7Bc.*2027G>C (n.*2027G>C)
c.*3121G>C (n.*3121G>C)
c.3756G>C (p.Arg1252Ser)
c.4377G>C (p.Arg1459Ser)
c.4044G>C (p.Arg1348Ser)
c.4125G>C (p.Arg1375Ser)
n.1700G>C
c.4143G>C (p.Arg1381Ser)
n.4516G>C
n.1243G>C
c.3312G>C (p.Arg1104Ser)
c.3087G>C (p.Arg1029Ser)
c.4182G>C (p.Arg1394Ser)
c.2155G>C
c.*1478G>C (n.*1478G>C)
n.5121G>C
n.3722G>C
c.4233G>C (p.Arg1411Ser)
c.4281G>C (p.Arg1427Ser)
c.4341G>C (p.Arg1447Ser)
c.3891G>C (p.Arg1297Ser)
c.2193G>C (p.Arg731Ser)
c.2010G>C (p.Arg670Ser)
c.4242G>C (p.Arg1414Ser)
c.4194G>C (p.Arg1398Ser)
c.3963G>C (p.Arg1321Ser)
c.3864G>C (p.Arg1288Ser)
c.3045G>C (p.Arg1015Ser)
n.4596G>C
13g.51934777C>TCA483892107ATP7Bc.*2027G>A (n.*2027G>A)
c.*3121G>A (n.*3121G>A)
c.3756G>A (p.Arg1252=)
c.4377G>A (p.Arg1459=)
c.4044G>A (p.Arg1348=)
c.4125G>A (p.Arg1375=)
n.1700G>A
c.4143G>A (p.Arg1381=)
n.4516G>A
n.1243G>A
c.3312G>A (p.Arg1104=)
c.3087G>A (p.Arg1029=)
c.4182G>A (p.Arg1394=)
c.2155G>A
c.*1478G>A (n.*1478G>A)
n.5121G>A
n.3722G>A
c.4233G>A (p.Arg1411=)
c.4281G>A (p.Arg1427=)
c.4341G>A (p.Arg1447=)
c.3891G>A (p.Arg1297=)
c.2193G>A (p.Arg731=)
c.2010G>A (p.Arg670=)
c.4242G>A (p.Arg1414=)
c.4194G>A (p.Arg1398=)
c.3963G>A (p.Arg1321=)
c.3864G>A (p.Arg1288=)
c.3045G>A (p.Arg1015=)
n.4596G>A
13g.51934778C>ACA388018722ATP7Bc.*2026G>T (n.*2026G>T)
c.*3120G>T (n.*3120G>T)
c.3755G>T (p.Arg1252Met)
c.4376G>T (p.Arg1459Met)
c.4043G>T (p.Arg1348Met)
c.4124G>T (p.Arg1375Met)
n.1699G>T
c.4142G>T (p.Arg1381Met)
n.4515G>T
n.1242G>T
c.3311G>T (p.Arg1104Met)
c.3086G>T (p.Arg1029Met)
c.4181G>T (p.Arg1394Met)
c.2154G>T
c.*1477G>T (n.*1477G>T)
n.5120G>T
n.3721G>T
c.4232G>T (p.Arg1411Met)
c.4280G>T (p.Arg1427Met)
c.4340G>T (p.Arg1447Met)
c.3890G>T (p.Arg1297Met)
c.2192G>T (p.Arg731Met)
c.2009G>T (p.Arg670Met)
c.4241G>T (p.Arg1414Met)
c.4193G>T (p.Arg1398Met)
c.3962G>T (p.Arg1321Met)
c.3863G>T (p.Arg1288Met)
c.3044G>T (p.Arg1015Met)
n.4595G>T
13g.51934778C>GCA388018727ATP7Bc.*2026G>C (n.*2026G>C)
c.*3120G>C (n.*3120G>C)
c.3755G>C (p.Arg1252Thr)
c.4376G>C (p.Arg1459Thr)
c.4043G>C (p.Arg1348Thr)
c.4124G>C (p.Arg1375Thr)
n.1699G>C
c.4142G>C (p.Arg1381Thr)
n.4515G>C
n.1242G>C
c.3311G>C (p.Arg1104Thr)
c.3086G>C (p.Arg1029Thr)
c.4181G>C (p.Arg1394Thr)
c.2154G>C
c.*1477G>C (n.*1477G>C)
n.5120G>C
n.3721G>C
c.4232G>C (p.Arg1411Thr)
c.4280G>C (p.Arg1427Thr)
c.4340G>C (p.Arg1447Thr)
c.3890G>C (p.Arg1297Thr)
c.2192G>C (p.Arg731Thr)
c.2009G>C (p.Arg670Thr)
c.4241G>C (p.Arg1414Thr)
c.4193G>C (p.Arg1398Thr)
c.3962G>C (p.Arg1321Thr)
c.3863G>C (p.Arg1288Thr)
c.3044G>C (p.Arg1015Thr)
n.4595G>C
13g.51934778C>TCA388018731ATP7Bc.*2026G>A (n.*2026G>A)
c.*3120G>A (n.*3120G>A)
c.3755G>A (p.Arg1252Lys)
c.4376G>A (p.Arg1459Lys)
c.4043G>A (p.Arg1348Lys)
c.4124G>A (p.Arg1375Lys)
n.1699G>A
c.4142G>A (p.Arg1381Lys)
n.4515G>A
n.1242G>A
c.3311G>A (p.Arg1104Lys)
c.3086G>A (p.Arg1029Lys)
c.4181G>A (p.Arg1394Lys)
c.2154G>A
c.*1477G>A (n.*1477G>A)
n.5120G>A
n.3721G>A
c.4232G>A (p.Arg1411Lys)
c.4280G>A (p.Arg1427Lys)
c.4340G>A (p.Arg1447Lys)
c.3890G>A (p.Arg1297Lys)
c.2192G>A (p.Arg731Lys)
c.2009G>A (p.Arg670Lys)
c.4241G>A (p.Arg1414Lys)
c.4193G>A (p.Arg1398Lys)
c.3962G>A (p.Arg1321Lys)
c.3863G>A (p.Arg1288Lys)
c.3044G>A (p.Arg1015Lys)
n.4595G>A
13g.51934779T>ACA388018733ATP7Bc.*2025A>T (n.*2025A>T)
c.*3119A>T (n.*3119A>T)
c.3754A>T (p.Arg1252Trp)
c.4375A>T (p.Arg1459Trp)
c.4042A>T (p.Arg1348Trp)
c.4123A>T (p.Arg1375Trp)
n.1698A>T
c.4141A>T (p.Arg1381Trp)
n.4514A>T
n.1241A>T
c.3310A>T (p.Arg1104Trp)
c.3085A>T (p.Arg1029Trp)
c.4180A>T (p.Arg1394Trp)
c.2153A>T
c.*1476A>T (n.*1476A>T)
n.5119A>T
n.3720A>T
c.4231A>T (p.Arg1411Trp)
c.4279A>T (p.Arg1427Trp)
c.4339A>T (p.Arg1447Trp)
c.3889A>T (p.Arg1297Trp)
c.2191A>T (p.Arg731Trp)
c.2008A>T (p.Arg670Trp)
c.4240A>T (p.Arg1414Trp)
c.4192A>T (p.Arg1398Trp)
c.3961A>T (p.Arg1321Trp)
c.3862A>T (p.Arg1288Trp)
c.3043A>T (p.Arg1015Trp)
n.4594A>T
13g.51934779T>CCA388018734ATP7Bc.*2025A>G (n.*2025A>G)
c.*3119A>G (n.*3119A>G)
c.3754A>G (p.Arg1252Gly)
c.4375A>G (p.Arg1459Gly)
c.4042A>G (p.Arg1348Gly)
c.4123A>G (p.Arg1375Gly)
n.1698A>G
c.4141A>G (p.Arg1381Gly)
n.4514A>G
n.1241A>G
c.3310A>G (p.Arg1104Gly)
c.3085A>G (p.Arg1029Gly)
c.4180A>G (p.Arg1394Gly)
c.2153A>G
c.*1476A>G (n.*1476A>G)
n.5119A>G
n.3720A>G
c.4231A>G (p.Arg1411Gly)
c.4279A>G (p.Arg1427Gly)
c.4339A>G (p.Arg1447Gly)
c.3889A>G (p.Arg1297Gly)
c.2191A>G (p.Arg731Gly)
c.2008A>G (p.Arg670Gly)
c.4240A>G (p.Arg1414Gly)
c.4192A>G (p.Arg1398Gly)
c.3961A>G (p.Arg1321Gly)
c.3862A>G (p.Arg1288Gly)
c.3043A>G (p.Arg1015Gly)
n.4594A>G
 dbSNP gnomAD v4
13g.51934779T>GCA483892119ATP7Bc.*2025A>C (n.*2025A>C)
c.*3119A>C (n.*3119A>C)
c.3754A>C (p.Arg1252=)
c.4375A>C (p.Arg1459=)
c.4042A>C (p.Arg1348=)
c.4123A>C (p.Arg1375=)
n.1698A>C
c.4141A>C (p.Arg1381=)
n.4514A>C
n.1241A>C
c.3310A>C (p.Arg1104=)
c.3085A>C (p.Arg1029=)
c.4180A>C (p.Arg1394=)
c.2153A>C
c.*1476A>C (n.*1476A>C)
n.5119A>C
n.3720A>C
c.4231A>C (p.Arg1411=)
c.4279A>C (p.Arg1427=)
c.4339A>C (p.Arg1447=)
c.3889A>C (p.Arg1297=)
c.2191A>C (p.Arg731=)
c.2008A>C (p.Arg670=)
c.4240A>C (p.Arg1414=)
c.4192A>C (p.Arg1398=)
c.3961A>C (p.Arg1321=)
c.3862A>C (p.Arg1288=)
c.3043A>C (p.Arg1015=)
n.4594A>C
13g.51934779_51934780delCA2499222493ATP7Bc.*2024_*2025del (n.*2024_*2025del)
c.*3118_*3119del (n.*3118_*3119del)
c.3753_3754del (p.Arg1252GlyfsTer2)
c.4374_4375del (p.Arg1459GlyfsTer2)
c.4041_4042del (p.Arg1348GlyfsTer2)
c.4122_4123del (p.Arg1375GlyfsTer2)
n.1697_1698del
c.4140_4141del (p.Arg1381GlyfsTer2)
n.4513_4514del
n.1240_1241del
c.3309_3310del (p.Arg1104GlyfsTer2)
c.3084_3085del (p.Arg1029GlyfsTer2)
c.4179_4180del (p.Arg1394GlyfsTer2)
c.2152_2153del
c.*1475_*1476del (n.*1475_*1476del)
n.5118_5119del
n.3719_3720del
c.4230_4231del (p.Arg1411GlyfsTer2)
c.4278_4279del (p.Arg1427GlyfsTer2)
c.4338_4339del (p.Arg1447GlyfsTer2)
c.3888_3889del (p.Arg1297GlyfsTer2)
c.2190_2191del (p.Arg731GlyfsTer2)
c.2007_2008del (p.Arg670GlyfsTer2)
c.4239_4240del (p.Arg1414GlyfsTer2)
c.4191_4192del (p.Arg1398GlyfsTer2)
c.3960_3961del (p.Arg1321GlyfsTer2)
c.3861_3862del (p.Arg1288GlyfsTer2)
c.3042_3043del (p.Arg1015GlyfsTer2)
n.4593_4594del
 ClinVar dbSNP
13g.51934780G>ACA483892122ATP7Bc.*2024C>T (n.*2024C>T)
c.*3118C>T (n.*3118C>T)
c.3753C>T (p.Gly1251=)
c.4374C>T (p.Gly1458=)
c.4041C>T (p.Gly1347=)
c.4122C>T (p.Gly1374=)
n.1697C>T
c.4140C>T (p.Gly1380=)
n.4513C>T
n.1240C>T
c.3309C>T (p.Gly1103=)
c.3084C>T (p.Gly1028=)
c.4179C>T (p.Gly1393=)
c.2152C>T
c.*1475C>T (n.*1475C>T)
n.5118C>T
n.3719C>T
c.4230C>T (p.Gly1410=)
c.4278C>T (p.Gly1426=)
c.4338C>T (p.Gly1446=)
c.3888C>T (p.Gly1296=)
c.2190C>T (p.Gly730=)
c.2007C>T (p.Gly669=)
c.4239C>T (p.Gly1413=)
c.4191C>T (p.Gly1397=)
c.3960C>T (p.Gly1320=)
c.3861C>T (p.Gly1287=)
c.3042C>T (p.Gly1014=)
n.4593C>T
 gnomAD v4
13g.51934780G>CCA483892124ATP7Bc.*2024C>G (n.*2024C>G)
c.*3118C>G (n.*3118C>G)
c.3753C>G (p.Gly1251=)
c.4374C>G (p.Gly1458=)
c.4041C>G (p.Gly1347=)
c.4122C>G (p.Gly1374=)
n.1697C>G
c.4140C>G (p.Gly1380=)
n.4513C>G
n.1240C>G
c.3309C>G (p.Gly1103=)
c.3084C>G (p.Gly1028=)
c.4179C>G (p.Gly1393=)
c.2152C>G
c.*1475C>G (n.*1475C>G)
n.5118C>G
n.3719C>G
c.4230C>G (p.Gly1410=)
c.4278C>G (p.Gly1426=)
c.4338C>G (p.Gly1446=)
c.3888C>G (p.Gly1296=)
c.2190C>G (p.Gly730=)
c.2007C>G (p.Gly669=)
c.4239C>G (p.Gly1413=)
c.4191C>G (p.Gly1397=)
c.3960C>G (p.Gly1320=)
c.3861C>G (p.Gly1287=)
c.3042C>G (p.Gly1014=)
n.4593C>G
13g.51934780G>TCA483892126ATP7Bc.*2024C>A (n.*2024C>A)
c.*3118C>A (n.*3118C>A)
c.3753C>A (p.Gly1251=)
c.4374C>A (p.Gly1458=)
c.4041C>A (p.Gly1347=)
c.4122C>A (p.Gly1374=)
n.1697C>A
c.4140C>A (p.Gly1380=)
n.4513C>A
n.1240C>A
c.3309C>A (p.Gly1103=)
c.3084C>A (p.Gly1028=)
c.4179C>A (p.Gly1393=)
c.2152C>A
c.*1475C>A (n.*1475C>A)
n.5118C>A
n.3719C>A
c.4230C>A (p.Gly1410=)
c.4278C>A (p.Gly1426=)
c.4338C>A (p.Gly1446=)
c.3888C>A (p.Gly1296=)
c.2190C>A (p.Gly730=)
c.2007C>A (p.Gly669=)
c.4239C>A (p.Gly1413=)
c.4191C>A (p.Gly1397=)
c.3960C>A (p.Gly1320=)
c.3861C>A (p.Gly1287=)
c.3042C>A (p.Gly1014=)
n.4593C>A
 gnomAD v4
13g.51934781C>ACA388018735ATP7Bc.*2023G>T (n.*2023G>T)
c.*3117G>T (n.*3117G>T)
c.3752G>T (p.Gly1251Val)
c.4373G>T (p.Gly1458Val)
c.4040G>T (p.Gly1347Val)
c.4121G>T (p.Gly1374Val)
n.1696G>T
c.4139G>T (p.Gly1380Val)
n.4512G>T
n.1239G>T
c.3308G>T (p.Gly1103Val)
c.3083G>T (p.Gly1028Val)
c.4178G>T (p.Gly1393Val)
c.2151G>T
c.*1474G>T (n.*1474G>T)
n.5117G>T
n.3718G>T
c.4229G>T (p.Gly1410Val)
c.4277G>T (p.Gly1426Val)
c.4337G>T (p.Gly1446Val)
c.3887G>T (p.Gly1296Val)
c.2189G>T (p.Gly730Val)
c.2006G>T (p.Gly669Val)
c.4238G>T (p.Gly1413Val)
c.4190G>T (p.Gly1397Val)
c.3959G>T (p.Gly1320Val)
c.3860G>T (p.Gly1287Val)
c.3041G>T (p.Gly1014Val)
n.4592G>T
13g.51934781C>GCA388018739ATP7Bc.*2023G>C (n.*2023G>C)
c.*3117G>C (n.*3117G>C)
c.3752G>C (p.Gly1251Ala)
c.4373G>C (p.Gly1458Ala)
c.4040G>C (p.Gly1347Ala)
c.4121G>C (p.Gly1374Ala)
n.1696G>C
c.4139G>C (p.Gly1380Ala)
n.4512G>C
n.1239G>C
c.3308G>C (p.Gly1103Ala)
c.3083G>C (p.Gly1028Ala)
c.4178G>C (p.Gly1393Ala)
c.2151G>C
c.*1474G>C (n.*1474G>C)
n.5117G>C
n.3718G>C
c.4229G>C (p.Gly1410Ala)
c.4277G>C (p.Gly1426Ala)
c.4337G>C (p.Gly1446Ala)
c.3887G>C (p.Gly1296Ala)
c.2189G>C (p.Gly730Ala)
c.2006G>C (p.Gly669Ala)
c.4238G>C (p.Gly1413Ala)
c.4190G>C (p.Gly1397Ala)
c.3959G>C (p.Gly1320Ala)
c.3860G>C (p.Gly1287Ala)
c.3041G>C (p.Gly1014Ala)
n.4592G>C
13g.51934781C>TCA388018741ATP7Bc.*2023G>A (n.*2023G>A)
c.*3117G>A (n.*3117G>A)
c.3752G>A (p.Gly1251Asp)
c.4373G>A (p.Gly1458Asp)
c.4040G>A (p.Gly1347Asp)
c.4121G>A (p.Gly1374Asp)
n.1696G>A
c.4139G>A (p.Gly1380Asp)
n.4512G>A
n.1239G>A
c.3308G>A (p.Gly1103Asp)
c.3083G>A (p.Gly1028Asp)
c.4178G>A (p.Gly1393Asp)
c.2151G>A
c.*1474G>A (n.*1474G>A)
n.5117G>A
n.3718G>A
c.4229G>A (p.Gly1410Asp)
c.4277G>A (p.Gly1426Asp)
c.4337G>A (p.Gly1446Asp)
c.3887G>A (p.Gly1296Asp)
c.2189G>A (p.Gly730Asp)
c.2006G>A (p.Gly669Asp)
c.4238G>A (p.Gly1413Asp)
c.4190G>A (p.Gly1397Asp)
c.3959G>A (p.Gly1320Asp)
c.3860G>A (p.Gly1287Asp)
c.3041G>A (p.Gly1014Asp)
n.4592G>A
 gnomAD v4
13g.51934782delCA2697551863ATP7Bc.*2023del (n.*2023del)
c.*3117del (n.*3117del)
c.3752del (p.Gly1251AlafsTer27)
c.4373del (p.Gly1458AlafsTer27)
c.4040del (p.Gly1347AlafsTer?)
c.4121del (p.Gly1374AlafsTer27)
n.1696del
c.4139del (p.Gly1380AlafsTer27)
n.4512del
n.1239del
c.3308del (p.Gly1103AlafsTer27)
c.4040del (p.Gly1347AlafsTer27)
c.3083del (p.Gly1028AlafsTer27)
c.4178del (p.Gly1393AlafsTer27)
c.2151del
c.*1474del (n.*1474del)
n.5117del
n.3718del
c.4229del (p.Gly1410AlafsTer27)
c.4277del (p.Gly1426AlafsTer27)
c.4337del (p.Gly1446AlafsTer27)
c.3887del (p.Gly1296AlafsTer27)
c.2189del (p.Gly730AlafsTer27)
c.2006del (p.Gly669AlafsTer27)
c.4238del (p.Gly1413AlafsTer27)
c.4190del (p.Gly1397AlafsTer27)
c.3959del (p.Gly1320AlafsTer27)
c.3860del (p.Gly1287AlafsTer27)
c.3041del (p.Gly1014AlafsTer27)
n.4592del
 ClinVar
13g.51934782C>ACA388018748ATP7Bc.*2022G>T (n.*2022G>T)
c.*3116G>T (n.*3116G>T)
c.3751G>T (p.Gly1251Cys)
c.4372G>T (p.Gly1458Cys)
c.4039G>T (p.Gly1347Cys)
c.4120G>T (p.Gly1374Cys)
n.1695G>T
c.4138G>T (p.Gly1380Cys)
n.4511G>T
n.1238G>T
c.3307G>T (p.Gly1103Cys)
c.3082G>T (p.Gly1028Cys)
c.4177G>T (p.Gly1393Cys)
c.2150G>T
c.*1473G>T (n.*1473G>T)
n.5116G>T
n.3717G>T
c.4228G>T (p.Gly1410Cys)
c.4276G>T (p.Gly1426Cys)
c.4336G>T (p.Gly1446Cys)
c.3886G>T (p.Gly1296Cys)
c.2188G>T (p.Gly730Cys)
c.2005G>T (p.Gly669Cys)
c.4237G>T (p.Gly1413Cys)
c.4189G>T (p.Gly1397Cys)
c.3958G>T (p.Gly1320Cys)
c.3859G>T (p.Gly1287Cys)
c.3040G>T (p.Gly1014Cys)
n.4591G>T
13g.51934782C>GCA388018750ATP7Bc.*2022G>C (n.*2022G>C)
c.*3116G>C (n.*3116G>C)
c.3751G>C (p.Gly1251Arg)
c.4372G>C (p.Gly1458Arg)
c.4039G>C (p.Gly1347Arg)
c.4120G>C (p.Gly1374Arg)
n.1695G>C
c.4138G>C (p.Gly1380Arg)
n.4511G>C
n.1238G>C
c.3307G>C (p.Gly1103Arg)
c.3082G>C (p.Gly1028Arg)
c.4177G>C (p.Gly1393Arg)
c.2150G>C
c.*1473G>C (n.*1473G>C)
n.5116G>C
n.3717G>C
c.4228G>C (p.Gly1410Arg)
c.4276G>C (p.Gly1426Arg)
c.4336G>C (p.Gly1446Arg)
c.3886G>C (p.Gly1296Arg)
c.2188G>C (p.Gly730Arg)
c.2005G>C (p.Gly669Arg)
c.4237G>C (p.Gly1413Arg)
c.4189G>C (p.Gly1397Arg)
c.3958G>C (p.Gly1320Arg)
c.3859G>C (p.Gly1287Arg)
c.3040G>C (p.Gly1014Arg)
n.4591G>C
13g.51934782C>TCA388018752ATP7Bc.*2022G>A (n.*2022G>A)
c.*3116G>A (n.*3116G>A)
c.3751G>A (p.Gly1251Ser)
c.4372G>A (p.Gly1458Ser)
c.4039G>A (p.Gly1347Ser)
c.4120G>A (p.Gly1374Ser)
n.1695G>A
c.4138G>A (p.Gly1380Ser)
n.4511G>A
n.1238G>A
c.3307G>A (p.Gly1103Ser)
c.3082G>A (p.Gly1028Ser)
c.4177G>A (p.Gly1393Ser)
c.2150G>A
c.*1473G>A (n.*1473G>A)
n.5116G>A
n.3717G>A
c.4228G>A (p.Gly1410Ser)
c.4276G>A (p.Gly1426Ser)
c.4336G>A (p.Gly1446Ser)
c.3886G>A (p.Gly1296Ser)
c.2188G>A (p.Gly730Ser)
c.2005G>A (p.Gly669Ser)
c.4237G>A (p.Gly1413Ser)
c.4189G>A (p.Gly1397Ser)
c.3958G>A (p.Gly1320Ser)
c.3859G>A (p.Gly1287Ser)
c.3040G>A (p.Gly1014Ser)
n.4591G>A
13g.51934783A=CA2091550196ATP7Bc.*2021T= (n.*2021T=)
c.*3115T= (n.*3115T=)
c.3750T= (p.Asn1250=)
c.4371T= (p.Asn1457=)
c.4038T= (p.Asn1346=)
c.4119T= (p.Asn1373=)
n.1694T=
c.4137T= (p.Asn1379=)
n.4510T=
n.1237T=
c.3306T= (p.Asn1102=)
c.3081T= (p.Asn1027=)
c.4176T= (p.Asn1392=)
c.2149T=
c.*1472T= (n.*1472T=)
n.5115T=
n.3716T=
c.4227T= (p.Asn1409=)
c.4275T= (p.Asn1425=)
c.4335T= (p.Asn1445=)
c.3885T= (p.Asn1295=)
c.2187T= (p.Asn729=)
c.2004T= (p.Asn668=)
c.4236T= (p.Asn1412=)
c.4188T= (p.Asn1396=)
c.3957T= (p.Asn1319=)
c.3858T= (p.Asn1286=)
c.3039T= (p.Asn1013=)
n.4590T=
13g.51934783A>CCA388018754ATP7Bc.*2021T>G (n.*2021T>G)
c.*3115T>G (n.*3115T>G)
c.3750T>G (p.Asn1250Lys)
c.4371T>G (p.Asn1457Lys)
c.4038T>G (p.Asn1346Lys)
c.4119T>G (p.Asn1373Lys)
n.1694T>G
c.4137T>G (p.Asn1379Lys)
n.4510T>G
n.1237T>G
c.3306T>G (p.Asn1102Lys)
c.3081T>G (p.Asn1027Lys)
c.4176T>G (p.Asn1392Lys)
c.2149T>G
c.*1472T>G (n.*1472T>G)
n.5115T>G
n.3716T>G
c.4227T>G (p.Asn1409Lys)
c.4275T>G (p.Asn1425Lys)
c.4335T>G (p.Asn1445Lys)
c.3885T>G (p.Asn1295Lys)
c.2187T>G (p.Asn729Lys)
c.2004T>G (p.Asn668Lys)
c.4236T>G (p.Asn1412Lys)
c.4188T>G (p.Asn1396Lys)
c.3957T>G (p.Asn1319Lys)
c.3858T>G (p.Asn1286Lys)
c.3039T>G (p.Asn1013Lys)
n.4590T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51934783A>GCA483892136ATP7Bc.*2021T>C (n.*2021T>C)
c.*3115T>C (n.*3115T>C)
c.3750T>C (p.Asn1250=)
c.4371T>C (p.Asn1457=)
c.4038T>C (p.Asn1346=)
c.4119T>C (p.Asn1373=)
n.1694T>C
c.4137T>C (p.Asn1379=)
n.4510T>C
n.1237T>C
c.3306T>C (p.Asn1102=)
c.3081T>C (p.Asn1027=)
c.4176T>C (p.Asn1392=)
c.2149T>C
c.*1472T>C (n.*1472T>C)
n.5115T>C
n.3716T>C
c.4227T>C (p.Asn1409=)
c.4275T>C (p.Asn1425=)
c.4335T>C (p.Asn1445=)
c.3885T>C (p.Asn1295=)
c.2187T>C (p.Asn729=)
c.2004T>C (p.Asn668=)
c.4236T>C (p.Asn1412=)
c.4188T>C (p.Asn1396=)
c.3957T>C (p.Asn1319=)
c.3858T>C (p.Asn1286=)
c.3039T>C (p.Asn1013=)
n.4590T>C
 ClinVar dbSNP gnomAD v4
13g.51934783A>TCA388018753ATP7Bc.*2021T>A (n.*2021T>A)
c.*3115T>A (n.*3115T>A)
c.3750T>A (p.Asn1250Lys)
c.4371T>A (p.Asn1457Lys)
c.4038T>A (p.Asn1346Lys)
c.4119T>A (p.Asn1373Lys)
n.1694T>A
c.4137T>A (p.Asn1379Lys)
n.4510T>A
n.1237T>A
c.3306T>A (p.Asn1102Lys)
c.3081T>A (p.Asn1027Lys)
c.4176T>A (p.Asn1392Lys)
c.2149T>A
c.*1472T>A (n.*1472T>A)
n.5115T>A
n.3716T>A
c.4227T>A (p.Asn1409Lys)
c.4275T>A (p.Asn1425Lys)
c.4335T>A (p.Asn1445Lys)
c.3885T>A (p.Asn1295Lys)
c.2187T>A (p.Asn729Lys)
c.2004T>A (p.Asn668Lys)
c.4236T>A (p.Asn1412Lys)
c.4188T>A (p.Asn1396Lys)
c.3957T>A (p.Asn1319Lys)
c.3858T>A (p.Asn1286Lys)
c.3039T>A (p.Asn1013Lys)
n.4590T>A
13g.51934784T>ACA388018755ATP7Bc.*2020A>T (n.*2020A>T)
c.*3114A>T (n.*3114A>T)
c.3749A>T (p.Asn1250Ile)
c.4370A>T (p.Asn1457Ile)
c.4037A>T (p.Asn1346Ile)
c.4118A>T (p.Asn1373Ile)
n.1693A>T
c.4136A>T (p.Asn1379Ile)
n.4509A>T
n.1236A>T
c.3305A>T (p.Asn1102Ile)
c.3080A>T (p.Asn1027Ile)
c.4175A>T (p.Asn1392Ile)
c.2148A>T
c.*1471A>T (n.*1471A>T)
n.5114A>T
n.3715A>T
c.4226A>T (p.Asn1409Ile)
c.4274A>T (p.Asn1425Ile)
c.4334A>T (p.Asn1445Ile)
c.3884A>T (p.Asn1295Ile)
c.2186A>T (p.Asn729Ile)
c.2003A>T (p.Asn668Ile)
c.4235A>T (p.Asn1412Ile)
c.4187A>T (p.Asn1396Ile)
c.3956A>T (p.Asn1319Ile)
c.3857A>T (p.Asn1286Ile)
c.3038A>T (p.Asn1013Ile)
n.4589A>T
13g.51934784T>CCA388018759ATP7Bc.*2020A>G (n.*2020A>G)
c.*3114A>G (n.*3114A>G)
c.3749A>G (p.Asn1250Ser)
c.4370A>G (p.Asn1457Ser)
c.4037A>G (p.Asn1346Ser)
c.4118A>G (p.Asn1373Ser)
n.1693A>G
c.4136A>G (p.Asn1379Ser)
n.4509A>G
n.1236A>G
c.3305A>G (p.Asn1102Ser)
c.3080A>G (p.Asn1027Ser)
c.4175A>G (p.Asn1392Ser)
c.2148A>G
c.*1471A>G (n.*1471A>G)
n.5114A>G
n.3715A>G
c.4226A>G (p.Asn1409Ser)
c.4274A>G (p.Asn1425Ser)
c.4334A>G (p.Asn1445Ser)
c.3884A>G (p.Asn1295Ser)
c.2186A>G (p.Asn729Ser)
c.2003A>G (p.Asn668Ser)
c.4235A>G (p.Asn1412Ser)
c.4187A>G (p.Asn1396Ser)
c.3956A>G (p.Asn1319Ser)
c.3857A>G (p.Asn1286Ser)
c.3038A>G (p.Asn1013Ser)
n.4589A>G
13g.51934784T>GCA388018757ATP7Bc.*2020A>C (n.*2020A>C)
c.*3114A>C (n.*3114A>C)
c.3749A>C (p.Asn1250Thr)
c.4370A>C (p.Asn1457Thr)
c.4037A>C (p.Asn1346Thr)
c.4118A>C (p.Asn1373Thr)
n.1693A>C
c.4136A>C (p.Asn1379Thr)
n.4509A>C
n.1236A>C
c.3305A>C (p.Asn1102Thr)
c.3080A>C (p.Asn1027Thr)
c.4175A>C (p.Asn1392Thr)
c.2148A>C
c.*1471A>C (n.*1471A>C)
n.5114A>C
n.3715A>C
c.4226A>C (p.Asn1409Thr)
c.4274A>C (p.Asn1425Thr)
c.4334A>C (p.Asn1445Thr)
c.3884A>C (p.Asn1295Thr)
c.2186A>C (p.Asn729Thr)
c.2003A>C (p.Asn668Thr)
c.4235A>C (p.Asn1412Thr)
c.4187A>C (p.Asn1396Thr)
c.3956A>C (p.Asn1319Thr)
c.3857A>C (p.Asn1286Thr)
c.3038A>C (p.Asn1013Thr)
n.4589A>C
13g.51934785T>ACA388018760ATP7Bc.*2019A>T (n.*2019A>T)
c.*3113A>T (n.*3113A>T)
c.3748A>T (p.Asn1250Tyr)
c.4369A>T (p.Asn1457Tyr)
c.4036A>T (p.Asn1346Tyr)
c.4117A>T (p.Asn1373Tyr)
n.1692A>T
c.4135A>T (p.Asn1379Tyr)
n.4508A>T
n.1235A>T
c.3304A>T (p.Asn1102Tyr)
c.3079A>T (p.Asn1027Tyr)
c.4174A>T (p.Asn1392Tyr)
c.2147A>T
c.*1470A>T (n.*1470A>T)
n.5113A>T
n.3714A>T
c.4225A>T (p.Asn1409Tyr)
c.4273A>T (p.Asn1425Tyr)
c.4333A>T (p.Asn1445Tyr)
c.3883A>T (p.Asn1295Tyr)
c.2185A>T (p.Asn729Tyr)
c.2002A>T (p.Asn668Tyr)
c.4234A>T (p.Asn1412Tyr)
c.4186A>T (p.Asn1396Tyr)
c.3955A>T (p.Asn1319Tyr)
c.3856A>T (p.Asn1286Tyr)
c.3037A>T (p.Asn1013Tyr)
n.4588A>T
13g.51934785T>CCA388018761ATP7Bc.*2019A>G (n.*2019A>G)
c.*3113A>G (n.*3113A>G)
c.3748A>G (p.Asn1250Asp)
c.4369A>G (p.Asn1457Asp)
c.4036A>G (p.Asn1346Asp)
c.4117A>G (p.Asn1373Asp)
n.1692A>G
c.4135A>G (p.Asn1379Asp)
n.4508A>G
n.1235A>G
c.3304A>G (p.Asn1102Asp)
c.3079A>G (p.Asn1027Asp)
c.4174A>G (p.Asn1392Asp)
c.2147A>G
c.*1470A>G (n.*1470A>G)
n.5113A>G
n.3714A>G
c.4225A>G (p.Asn1409Asp)
c.4273A>G (p.Asn1425Asp)
c.4333A>G (p.Asn1445Asp)
c.3883A>G (p.Asn1295Asp)
c.2185A>G (p.Asn729Asp)
c.2002A>G (p.Asn668Asp)
c.4234A>G (p.Asn1412Asp)
c.4186A>G (p.Asn1396Asp)
c.3955A>G (p.Asn1319Asp)
c.3856A>G (p.Asn1286Asp)
c.3037A>G (p.Asn1013Asp)
n.4588A>G
13g.51934785T>GCA388018764ATP7Bc.*2019A>C (n.*2019A>C)
c.*3113A>C (n.*3113A>C)
c.3748A>C (p.Asn1250His)
c.4369A>C (p.Asn1457His)
c.4036A>C (p.Asn1346His)
c.4117A>C (p.Asn1373His)
n.1692A>C
c.4135A>C (p.Asn1379His)
n.4508A>C
n.1235A>C
c.3304A>C (p.Asn1102His)
c.3079A>C (p.Asn1027His)
c.4174A>C (p.Asn1392His)
c.2147A>C
c.*1470A>C (n.*1470A>C)
n.5113A>C
n.3714A>C
c.4225A>C (p.Asn1409His)
c.4273A>C (p.Asn1425His)
c.4333A>C (p.Asn1445His)
c.3883A>C (p.Asn1295His)
c.2185A>C (p.Asn729His)
c.2002A>C (p.Asn668His)
c.4234A>C (p.Asn1412His)
c.4186A>C (p.Asn1396His)
c.3955A>C (p.Asn1319His)
c.3856A>C (p.Asn1286His)
c.3037A>C (p.Asn1013His)
n.4588A>C
 gnomAD v4
13g.51934786C>ACA483892149ATP7Bc.*2018G>T (n.*2018G>T)
c.*3112G>T (n.*3112G>T)
c.3747G>T (p.Leu1249=)
c.4368G>T (p.Leu1456=)
c.4035G>T (p.Leu1345=)
c.4116G>T (p.Leu1372=)
n.1691G>T
c.4134G>T (p.Leu1378=)
n.4507G>T
n.1234G>T
c.3303G>T (p.Leu1101=)
c.3078G>T (p.Leu1026=)
c.4173G>T (p.Leu1391=)
c.2146G>T
c.*1469G>T (n.*1469G>T)
n.5112G>T
n.3713G>T
c.4224G>T (p.Leu1408=)
c.4272G>T (p.Leu1424=)
c.4332G>T (p.Leu1444=)
c.3882G>T (p.Leu1294=)
c.2184G>T (p.Leu728=)
c.2001G>T (p.Leu667=)
c.4233G>T (p.Leu1411=)
c.4185G>T (p.Leu1395=)
c.3954G>T (p.Leu1318=)
c.3855G>T (p.Leu1285=)
c.3036G>T (p.Leu1012=)
n.4587G>T
 gnomAD v4
13g.51934786C>GCA483892145ATP7Bc.*2018G>C (n.*2018G>C)
c.*3112G>C (n.*3112G>C)
c.3747G>C (p.Leu1249=)
c.4368G>C (p.Leu1456=)
c.4035G>C (p.Leu1345=)
c.4116G>C (p.Leu1372=)
n.1691G>C
c.4134G>C (p.Leu1378=)
n.4507G>C
n.1234G>C
c.3303G>C (p.Leu1101=)
c.3078G>C (p.Leu1026=)
c.4173G>C (p.Leu1391=)
c.2146G>C
c.*1469G>C (n.*1469G>C)
n.5112G>C
n.3713G>C
c.4224G>C (p.Leu1408=)
c.4272G>C (p.Leu1424=)
c.4332G>C (p.Leu1444=)
c.3882G>C (p.Leu1294=)
c.2184G>C (p.Leu728=)
c.2001G>C (p.Leu667=)
c.4233G>C (p.Leu1411=)
c.4185G>C (p.Leu1395=)
c.3954G>C (p.Leu1318=)
c.3855G>C (p.Leu1285=)
c.3036G>C (p.Leu1012=)
n.4587G>C
13g.51934786C>TCA483892147ATP7Bc.*2018G>A (n.*2018G>A)
c.*3112G>A (n.*3112G>A)
c.3747G>A (p.Leu1249=)
c.4368G>A (p.Leu1456=)
c.4035G>A (p.Leu1345=)
c.4116G>A (p.Leu1372=)
n.1691G>A
c.4134G>A (p.Leu1378=)
n.4507G>A
n.1234G>A
c.3303G>A (p.Leu1101=)
c.3078G>A (p.Leu1026=)
c.4173G>A (p.Leu1391=)
c.2146G>A
c.*1469G>A (n.*1469G>A)
n.5112G>A
n.3713G>A
c.4224G>A (p.Leu1408=)
c.4272G>A (p.Leu1424=)
c.4332G>A (p.Leu1444=)
c.3882G>A (p.Leu1294=)
c.2184G>A (p.Leu728=)
c.2001G>A (p.Leu667=)
c.4233G>A (p.Leu1411=)
c.4185G>A (p.Leu1395=)
c.3954G>A (p.Leu1318=)
c.3855G>A (p.Leu1285=)
c.3036G>A (p.Leu1012=)
n.4587G>A
13g.51934787A=CA2091550198ATP7Bc.*2017T= (n.*2017T=)
c.*3111T= (n.*3111T=)
c.3746T= (p.Leu1249=)
c.4367T= (p.Leu1456=)
c.4034T= (p.Leu1345=)
c.4115T= (p.Leu1372=)
n.1690T=
c.4133T= (p.Leu1378=)
n.4506T=
n.1233T=
c.3302T= (p.Leu1101=)
c.3077T= (p.Leu1026=)
c.4172T= (p.Leu1391=)
c.2145T=
c.*1468T= (n.*1468T=)
n.5111T=
n.3712T=
c.4223T= (p.Leu1408=)
c.4271T= (p.Leu1424=)
c.4331T= (p.Leu1444=)
c.3881T= (p.Leu1294=)
c.2183T= (p.Leu728=)
c.2000T= (p.Leu667=)
c.4232T= (p.Leu1411=)
c.4184T= (p.Leu1395=)
c.3953T= (p.Leu1318=)
c.3854T= (p.Leu1285=)
c.3035T= (p.Leu1012=)
n.4586T=
13g.51934787A>CCA388018777ATP7Bc.*2017T>G (n.*2017T>G)
c.*3111T>G (n.*3111T>G)
c.3746T>G (p.Leu1249Arg)
c.4367T>G (p.Leu1456Arg)
c.4034T>G (p.Leu1345Arg)
c.4115T>G (p.Leu1372Arg)
n.1690T>G
c.4133T>G (p.Leu1378Arg)
n.4506T>G
n.1233T>G
c.3302T>G (p.Leu1101Arg)
c.3077T>G (p.Leu1026Arg)
c.4172T>G (p.Leu1391Arg)
c.2145T>G
c.*1468T>G (n.*1468T>G)
n.5111T>G
n.3712T>G
c.4223T>G (p.Leu1408Arg)
c.4271T>G (p.Leu1424Arg)
c.4331T>G (p.Leu1444Arg)
c.3881T>G (p.Leu1294Arg)
c.2183T>G (p.Leu728Arg)
c.2000T>G (p.Leu667Arg)
c.4232T>G (p.Leu1411Arg)
c.4184T>G (p.Leu1395Arg)
c.3953T>G (p.Leu1318Arg)
c.3854T>G (p.Leu1285Arg)
c.3035T>G (p.Leu1012Arg)
n.4586T>G
 dbSNP
13g.51934787A>GCA6988410ATP7Bc.*2017T>C (n.*2017T>C)
c.*3111T>C (n.*3111T>C)
c.3746T>C (p.Leu1249Pro)
c.4367T>C (p.Leu1456Pro)
c.4034T>C (p.Leu1345Pro)
c.4115T>C (p.Leu1372Pro)
n.1690T>C
c.4133T>C (p.Leu1378Pro)
n.4506T>C
n.1233T>C
c.3302T>C (p.Leu1101Pro)
c.3077T>C (p.Leu1026Pro)
c.4172T>C (p.Leu1391Pro)
c.2145T>C
c.*1468T>C (n.*1468T>C)
n.5111T>C
n.3712T>C
c.4223T>C (p.Leu1408Pro)
c.4271T>C (p.Leu1424Pro)
c.4331T>C (p.Leu1444Pro)
c.3881T>C (p.Leu1294Pro)
c.2183T>C (p.Leu728Pro)
c.2000T>C (p.Leu667Pro)
c.4232T>C (p.Leu1411Pro)
c.4184T>C (p.Leu1395Pro)
c.3953T>C (p.Leu1318Pro)
c.3854T>C (p.Leu1285Pro)
c.3035T>C (p.Leu1012Pro)
n.4586T>C
 dbSNP ExAC gnomAD v2
13g.51934787A>TCA388018781ATP7Bc.*2017T>A (n.*2017T>A)
c.*3111T>A (n.*3111T>A)
c.3746T>A (p.Leu1249Gln)
c.4367T>A (p.Leu1456Gln)
c.4034T>A (p.Leu1345Gln)
c.4115T>A (p.Leu1372Gln)
n.1690T>A
c.4133T>A (p.Leu1378Gln)
n.4506T>A
n.1233T>A
c.3302T>A (p.Leu1101Gln)
c.3077T>A (p.Leu1026Gln)
c.4172T>A (p.Leu1391Gln)
c.2145T>A
c.*1468T>A (n.*1468T>A)
n.5111T>A
n.3712T>A
c.4223T>A (p.Leu1408Gln)
c.4271T>A (p.Leu1424Gln)
c.4331T>A (p.Leu1444Gln)
c.3881T>A (p.Leu1294Gln)
c.2183T>A (p.Leu728Gln)
c.2000T>A (p.Leu667Gln)
c.4232T>A (p.Leu1411Gln)
c.4184T>A (p.Leu1395Gln)
c.3953T>A (p.Leu1318Gln)
c.3854T>A (p.Leu1285Gln)
c.3035T>A (p.Leu1012Gln)
n.4586T>A
13g.51934788G>ACA484024047ATP7Bc.*2016C>T (n.*2016C>T)
c.*3110C>T (n.*3110C>T)
c.3745C>T (p.Leu1249=)
c.4366C>T (p.Leu1456=)
c.4033C>T (p.Leu1345=)
c.4114C>T (p.Leu1372=)
n.1689C>T
c.4132C>T (p.Leu1378=)
n.4505C>T
n.1232C>T
c.3301C>T (p.Leu1101=)
c.3076C>T (p.Leu1026=)
c.4171C>T (p.Leu1391=)
c.2144C>T
c.*1467C>T (n.*1467C>T)
n.5110C>T
n.3711C>T
c.4222C>T (p.Leu1408=)
c.4270C>T (p.Leu1424=)
c.4330C>T (p.Leu1444=)
c.3880C>T (p.Leu1294=)
c.2182C>T (p.Leu728=)
c.1999C>T (p.Leu667=)
c.4231C>T (p.Leu1411=)
c.4183C>T (p.Leu1395=)
c.3952C>T (p.Leu1318=)
c.3853C>T (p.Leu1285=)
c.3034C>T (p.Leu1012=)
n.4585C>T
13g.51934788G>CCA388018783ATP7Bc.*2016C>G (n.*2016C>G)
c.*3110C>G (n.*3110C>G)
c.3745C>G (p.Leu1249Val)
c.4366C>G (p.Leu1456Val)
c.4033C>G (p.Leu1345Val)
c.4114C>G (p.Leu1372Val)
n.1689C>G
c.4132C>G (p.Leu1378Val)
n.4505C>G
n.1232C>G
c.3301C>G (p.Leu1101Val)
c.3076C>G (p.Leu1026Val)
c.4171C>G (p.Leu1391Val)
c.2144C>G
c.*1467C>G (n.*1467C>G)
n.5110C>G
n.3711C>G
c.4222C>G (p.Leu1408Val)
c.4270C>G (p.Leu1424Val)
c.4330C>G (p.Leu1444Val)
c.3880C>G (p.Leu1294Val)
c.2182C>G (p.Leu728Val)
c.1999C>G (p.Leu667Val)
c.4231C>G (p.Leu1411Val)
c.4183C>G (p.Leu1395Val)
c.3952C>G (p.Leu1318Val)
c.3853C>G (p.Leu1285Val)
c.3034C>G (p.Leu1012Val)
n.4585C>G
13g.51934788G>TCA388018786ATP7Bc.*2016C>A (n.*2016C>A)
c.*3110C>A (n.*3110C>A)
c.3745C>A (p.Leu1249Met)
c.4366C>A (p.Leu1456Met)
c.4033C>A (p.Leu1345Met)
c.4114C>A (p.Leu1372Met)
n.1689C>A
c.4132C>A (p.Leu1378Met)
n.4505C>A
n.1232C>A
c.3301C>A (p.Leu1101Met)
c.3076C>A (p.Leu1026Met)
c.4171C>A (p.Leu1391Met)
c.2144C>A
c.*1467C>A (n.*1467C>A)
n.5110C>A
n.3711C>A
c.4222C>A (p.Leu1408Met)
c.4270C>A (p.Leu1424Met)
c.4330C>A (p.Leu1444Met)
c.3880C>A (p.Leu1294Met)
c.2182C>A (p.Leu728Met)
c.1999C>A (p.Leu667Met)
c.4231C>A (p.Leu1411Met)
c.4183C>A (p.Leu1395Met)
c.3952C>A (p.Leu1318Met)
c.3853C>A (p.Leu1285Met)
c.3034C>A (p.Leu1012Met)
n.4585C>A
13g.51934789G>ACA6988411ATP7Bc.*2015C>T (n.*2015C>T)
c.*3109C>T (n.*3109C>T)
c.3744C>T (p.Leu1248=)
c.4365C>T (p.Leu1455=)
c.4032C>T (p.Leu1344=)
c.4113C>T (p.Leu1371=)
n.1688C>T
c.4131C>T (p.Leu1377=)
n.4504C>T
n.1231C>T
c.3300C>T (p.Leu1100=)
c.3075C>T (p.Leu1025=)
c.4170C>T (p.Leu1390=)
c.2143C>T
c.*1466C>T (n.*1466C>T)
n.5109C>T
n.3710C>T
c.4221C>T (p.Leu1407=)
c.4269C>T (p.Leu1423=)
c.4329C>T (p.Leu1443=)
c.3879C>T (p.Leu1293=)
c.2181C>T (p.Leu727=)
c.1998C>T (p.Leu666=)
c.4230C>T (p.Leu1410=)
c.4182C>T (p.Leu1394=)
c.3951C>T (p.Leu1317=)
c.3852C>T (p.Leu1284=)
c.3033C>T (p.Leu1011=)
n.4584C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934789G>CCA484024048ATP7Bc.*2015C>G (n.*2015C>G)
c.*3109C>G (n.*3109C>G)
c.3744C>G (p.Leu1248=)
c.4365C>G (p.Leu1455=)
c.4032C>G (p.Leu1344=)
c.4113C>G (p.Leu1371=)
n.1688C>G
c.4131C>G (p.Leu1377=)
n.4504C>G
n.1231C>G
c.3300C>G (p.Leu1100=)
c.3075C>G (p.Leu1025=)
c.4170C>G (p.Leu1390=)
c.2143C>G
c.*1466C>G (n.*1466C>G)
n.5109C>G
n.3710C>G
c.4221C>G (p.Leu1407=)
c.4269C>G (p.Leu1423=)
c.4329C>G (p.Leu1443=)
c.3879C>G (p.Leu1293=)
c.2181C>G (p.Leu727=)
c.1998C>G (p.Leu666=)
c.4230C>G (p.Leu1410=)
c.4182C>G (p.Leu1394=)
c.3951C>G (p.Leu1317=)
c.3852C>G (p.Leu1284=)
c.3033C>G (p.Leu1011=)
n.4584C>G
13g.51934789G=CA2091550201ATP7Bc.*2015C= (n.*2015C=)
c.*3109C= (n.*3109C=)
c.3744C= (p.Leu1248=)
c.4365C= (p.Leu1455=)
c.4032C= (p.Leu1344=)
c.4113C= (p.Leu1371=)
n.1688C=
c.4131C= (p.Leu1377=)
n.4504C=
n.1231C=
c.3300C= (p.Leu1100=)
c.3075C= (p.Leu1025=)
c.4170C= (p.Leu1390=)
c.2143C=
c.*1466C= (n.*1466C=)
n.5109C=
n.3710C=
c.4221C= (p.Leu1407=)
c.4269C= (p.Leu1423=)
c.4329C= (p.Leu1443=)
c.3879C= (p.Leu1293=)
c.2181C= (p.Leu727=)
c.1998C= (p.Leu666=)
c.4230C= (p.Leu1410=)
c.4182C= (p.Leu1394=)
c.3951C= (p.Leu1317=)
c.3852C= (p.Leu1284=)
c.3033C= (p.Leu1011=)
n.4584C=
13g.51934789G>TCA484024049ATP7Bc.*2015C>A (n.*2015C>A)
c.*3109C>A (n.*3109C>A)
c.3744C>A (p.Leu1248=)
c.4365C>A (p.Leu1455=)
c.4032C>A (p.Leu1344=)
c.4113C>A (p.Leu1371=)
n.1688C>A
c.4131C>A (p.Leu1377=)
n.4504C>A
n.1231C>A
c.3300C>A (p.Leu1100=)
c.3075C>A (p.Leu1025=)
c.4170C>A (p.Leu1390=)
c.2143C>A
c.*1466C>A (n.*1466C>A)
n.5109C>A
n.3710C>A
c.4221C>A (p.Leu1407=)
c.4269C>A (p.Leu1423=)
c.4329C>A (p.Leu1443=)
c.3879C>A (p.Leu1293=)
c.2181C>A (p.Leu727=)
c.1998C>A (p.Leu666=)
c.4230C>A (p.Leu1410=)
c.4182C>A (p.Leu1394=)
c.3951C>A (p.Leu1317=)
c.3852C>A (p.Leu1284=)
c.3033C>A (p.Leu1011=)
n.4584C>A
13g.51934790A>CCA388018795ATP7Bc.*2014T>G (n.*2014T>G)
c.*3108T>G (n.*3108T>G)
c.3743T>G (p.Leu1248Arg)
c.4364T>G (p.Leu1455Arg)
c.4031T>G (p.Leu1344Arg)
c.4112T>G (p.Leu1371Arg)
n.1687T>G
c.4130T>G (p.Leu1377Arg)
n.4503T>G
n.1230T>G
c.3299T>G (p.Leu1100Arg)
c.3074T>G (p.Leu1025Arg)
c.4169T>G (p.Leu1390Arg)
c.2142T>G
c.*1465T>G (n.*1465T>G)
n.5108T>G
n.3709T>G
c.4220T>G (p.Leu1407Arg)
c.4268T>G (p.Leu1423Arg)
c.4328T>G (p.Leu1443Arg)
c.3878T>G (p.Leu1293Arg)
c.2180T>G (p.Leu727Arg)
c.1997T>G (p.Leu666Arg)
c.4229T>G (p.Leu1410Arg)
c.4181T>G (p.Leu1394Arg)
c.3950T>G (p.Leu1317Arg)
c.3851T>G (p.Leu1284Arg)
c.3032T>G (p.Leu1011Arg)
n.4583T>G
13g.51934790A>GCA388018802ATP7Bc.*2014T>C (n.*2014T>C)
c.*3108T>C (n.*3108T>C)
c.3743T>C (p.Leu1248Pro)
c.4364T>C (p.Leu1455Pro)
c.4031T>C (p.Leu1344Pro)
c.4112T>C (p.Leu1371Pro)
n.1687T>C
c.4130T>C (p.Leu1377Pro)
n.4503T>C
n.1230T>C
c.3299T>C (p.Leu1100Pro)
c.3074T>C (p.Leu1025Pro)
c.4169T>C (p.Leu1390Pro)
c.2142T>C
c.*1465T>C (n.*1465T>C)
n.5108T>C
n.3709T>C
c.4220T>C (p.Leu1407Pro)
c.4268T>C (p.Leu1423Pro)
c.4328T>C (p.Leu1443Pro)
c.3878T>C (p.Leu1293Pro)
c.2180T>C (p.Leu727Pro)
c.1997T>C (p.Leu666Pro)
c.4229T>C (p.Leu1410Pro)
c.4181T>C (p.Leu1394Pro)
c.3950T>C (p.Leu1317Pro)
c.3851T>C (p.Leu1284Pro)
c.3032T>C (p.Leu1011Pro)
n.4583T>C
13g.51934790A>TCA388018804ATP7Bc.*2014T>A (n.*2014T>A)
c.*3108T>A (n.*3108T>A)
c.3743T>A (p.Leu1248His)
c.4364T>A (p.Leu1455His)
c.4031T>A (p.Leu1344His)
c.4112T>A (p.Leu1371His)
n.1687T>A
c.4130T>A (p.Leu1377His)
n.4503T>A
n.1230T>A
c.3299T>A (p.Leu1100His)
c.3074T>A (p.Leu1025His)
c.4169T>A (p.Leu1390His)
c.2142T>A
c.*1465T>A (n.*1465T>A)
n.5108T>A
n.3709T>A
c.4220T>A (p.Leu1407His)
c.4268T>A (p.Leu1423His)
c.4328T>A (p.Leu1443His)
c.3878T>A (p.Leu1293His)
c.2180T>A (p.Leu727His)
c.1997T>A (p.Leu666His)
c.4229T>A (p.Leu1410His)
c.4181T>A (p.Leu1394His)
c.3950T>A (p.Leu1317His)
c.3851T>A (p.Leu1284His)
c.3032T>A (p.Leu1011His)
n.4583T>A
13g.51934791G>ACA388018821ATP7Bc.*2013C>T (n.*2013C>T)
c.*3107C>T (n.*3107C>T)
c.3742C>T (p.Leu1248Phe)
c.4363C>T (p.Leu1455Phe)
c.4030C>T (p.Leu1344Phe)
c.4111C>T (p.Leu1371Phe)
n.1686C>T
c.4129C>T (p.Leu1377Phe)
n.4502C>T
n.1229C>T
c.3298C>T (p.Leu1100Phe)
c.3073C>T (p.Leu1025Phe)
c.4168C>T (p.Leu1390Phe)
c.2141C>T
c.*1464C>T (n.*1464C>T)
n.5107C>T
n.3708C>T
c.4219C>T (p.Leu1407Phe)
c.4267C>T (p.Leu1423Phe)
c.4327C>T (p.Leu1443Phe)
c.3877C>T (p.Leu1293Phe)
c.2179C>T (p.Leu727Phe)
c.1996C>T (p.Leu666Phe)
c.4228C>T (p.Leu1410Phe)
c.4180C>T (p.Leu1394Phe)
c.3949C>T (p.Leu1317Phe)
c.3850C>T (p.Leu1284Phe)
c.3031C>T (p.Leu1011Phe)
n.4582C>T
13g.51934791G>CCA388018817ATP7Bc.*2013C>G (n.*2013C>G)
c.*3107C>G (n.*3107C>G)
c.3742C>G (p.Leu1248Val)
c.4363C>G (p.Leu1455Val)
c.4030C>G (p.Leu1344Val)
c.4111C>G (p.Leu1371Val)
n.1686C>G
c.4129C>G (p.Leu1377Val)
n.4502C>G
n.1229C>G
c.3298C>G (p.Leu1100Val)
c.3073C>G (p.Leu1025Val)
c.4168C>G (p.Leu1390Val)
c.2141C>G
c.*1464C>G (n.*1464C>G)
n.5107C>G
n.3708C>G
c.4219C>G (p.Leu1407Val)
c.4267C>G (p.Leu1423Val)
c.4327C>G (p.Leu1443Val)
c.3877C>G (p.Leu1293Val)
c.2179C>G (p.Leu727Val)
c.1996C>G (p.Leu666Val)
c.4228C>G (p.Leu1410Val)
c.4180C>G (p.Leu1394Val)
c.3949C>G (p.Leu1317Val)
c.3850C>G (p.Leu1284Val)
c.3031C>G (p.Leu1011Val)
n.4582C>G
13g.51934791G>TCA388018820ATP7Bc.*2013C>A (n.*2013C>A)
c.*3107C>A (n.*3107C>A)
c.3742C>A (p.Leu1248Ile)
c.4363C>A (p.Leu1455Ile)
c.4030C>A (p.Leu1344Ile)
c.4111C>A (p.Leu1371Ile)
n.1686C>A
c.4129C>A (p.Leu1377Ile)
n.4502C>A
n.1229C>A
c.3298C>A (p.Leu1100Ile)
c.3073C>A (p.Leu1025Ile)
c.4168C>A (p.Leu1390Ile)
c.2141C>A
c.*1464C>A (n.*1464C>A)
n.5107C>A
n.3708C>A
c.4219C>A (p.Leu1407Ile)
c.4267C>A (p.Leu1423Ile)
c.4327C>A (p.Leu1443Ile)
c.3877C>A (p.Leu1293Ile)
c.2179C>A (p.Leu727Ile)
c.1996C>A (p.Leu666Ile)
c.4228C>A (p.Leu1410Ile)
c.4180C>A (p.Leu1394Ile)
c.3949C>A (p.Leu1317Ile)
c.3850C>A (p.Leu1284Ile)
c.3031C>A (p.Leu1011Ile)
n.4582C>A
13g.51934792C>ACA484024053ATP7Bc.*2012G>T (n.*2012G>T)
c.*3106G>T (n.*3106G>T)
c.3741G>T (p.Leu1247=)
c.4362G>T (p.Leu1454=)
c.4029G>T (p.Leu1343=)
c.4110G>T (p.Leu1370=)
n.1685G>T
c.4128G>T (p.Leu1376=)
n.4501G>T
n.1228G>T
c.3297G>T (p.Leu1099=)
c.3072G>T (p.Leu1024=)
c.4167G>T (p.Leu1389=)
c.2140G>T
c.*1463G>T (n.*1463G>T)
n.5106G>T
n.3707G>T
c.4218G>T (p.Leu1406=)
c.4266G>T (p.Leu1422=)
c.4326G>T (p.Leu1442=)
c.3876G>T (p.Leu1292=)
c.2178G>T (p.Leu726=)
c.1995G>T (p.Leu665=)
c.4227G>T (p.Leu1409=)
c.4179G>T (p.Leu1393=)
c.3948G>T (p.Leu1316=)
c.3849G>T (p.Leu1283=)
c.3030G>T (p.Leu1010=)
n.4581G>T
13g.51934792C>GCA484024054ATP7Bc.*2012G>C (n.*2012G>C)
c.*3106G>C (n.*3106G>C)
c.3741G>C (p.Leu1247=)
c.4362G>C (p.Leu1454=)
c.4029G>C (p.Leu1343=)
c.4110G>C (p.Leu1370=)
n.1685G>C
c.4128G>C (p.Leu1376=)
n.4501G>C
n.1228G>C
c.3297G>C (p.Leu1099=)
c.3072G>C (p.Leu1024=)
c.4167G>C (p.Leu1389=)
c.2140G>C
c.*1463G>C (n.*1463G>C)
n.5106G>C
n.3707G>C
c.4218G>C (p.Leu1406=)
c.4266G>C (p.Leu1422=)
c.4326G>C (p.Leu1442=)
c.3876G>C (p.Leu1292=)
c.2178G>C (p.Leu726=)
c.1995G>C (p.Leu665=)
c.4227G>C (p.Leu1409=)
c.4179G>C (p.Leu1393=)
c.3948G>C (p.Leu1316=)
c.3849G>C (p.Leu1283=)
c.3030G>C (p.Leu1010=)
n.4581G>C
13g.51934792C>TCA484024055ATP7Bc.*2012G>A (n.*2012G>A)
c.*3106G>A (n.*3106G>A)
c.3741G>A (p.Leu1247=)
c.4362G>A (p.Leu1454=)
c.4029G>A (p.Leu1343=)
c.4110G>A (p.Leu1370=)
n.1685G>A
c.4128G>A (p.Leu1376=)
n.4501G>A
n.1228G>A
c.3297G>A (p.Leu1099=)
c.3072G>A (p.Leu1024=)
c.4167G>A (p.Leu1389=)
c.2140G>A
c.*1463G>A (n.*1463G>A)
n.5106G>A
n.3707G>A
c.4218G>A (p.Leu1406=)
c.4266G>A (p.Leu1422=)
c.4326G>A (p.Leu1442=)
c.3876G>A (p.Leu1292=)
c.2178G>A (p.Leu726=)
c.1995G>A (p.Leu665=)
c.4227G>A (p.Leu1409=)
c.4179G>A (p.Leu1393=)
c.3948G>A (p.Leu1316=)
c.3849G>A (p.Leu1283=)
c.3030G>A (p.Leu1010=)
n.4581G>A
13g.51934793A=CA2091550202ATP7Bc.*2011T= (n.*2011T=)
c.*3105T= (n.*3105T=)
c.3740T= (p.Leu1247=)
c.4361T= (p.Leu1454=)
c.4028T= (p.Leu1343=)
c.4109T= (p.Leu1370=)
n.1684T=
c.4127T= (p.Leu1376=)
n.4500T=
n.1227T=
c.3296T= (p.Leu1099=)
c.3071T= (p.Leu1024=)
c.4166T= (p.Leu1389=)
c.2139T=
c.*1462T= (n.*1462T=)
n.5105T=
n.3706T=
c.4217T= (p.Leu1406=)
c.4265T= (p.Leu1422=)
c.4325T= (p.Leu1442=)
c.3875T= (p.Leu1292=)
c.2177T= (p.Leu726=)
c.1994T= (p.Leu665=)
c.4226T= (p.Leu1409=)
c.4178T= (p.Leu1393=)
c.3947T= (p.Leu1316=)
c.3848T= (p.Leu1283=)
c.3029T= (p.Leu1010=)
n.4580T=
13g.51934793A>CCA388018822ATP7Bc.*2011T>G (n.*2011T>G)
c.*3105T>G (n.*3105T>G)
c.3740T>G (p.Leu1247Arg)
c.4361T>G (p.Leu1454Arg)
c.4028T>G (p.Leu1343Arg)
c.4109T>G (p.Leu1370Arg)
n.1684T>G
c.4127T>G (p.Leu1376Arg)
n.4500T>G
n.1227T>G
c.3296T>G (p.Leu1099Arg)
c.3071T>G (p.Leu1024Arg)
c.4166T>G (p.Leu1389Arg)
c.2139T>G
c.*1462T>G (n.*1462T>G)
n.5105T>G
n.3706T>G
c.4217T>G (p.Leu1406Arg)
c.4265T>G (p.Leu1422Arg)
c.4325T>G (p.Leu1442Arg)
c.3875T>G (p.Leu1292Arg)
c.2177T>G (p.Leu726Arg)
c.1994T>G (p.Leu665Arg)
c.4226T>G (p.Leu1409Arg)
c.4178T>G (p.Leu1393Arg)
c.3947T>G (p.Leu1316Arg)
c.3848T>G (p.Leu1283Arg)
c.3029T>G (p.Leu1010Arg)
n.4580T>G
 dbSNP gnomAD v2 gnomAD v4
13g.51934793A>GCA250071440ATP7Bc.*2011T>C (n.*2011T>C)
c.*3105T>C (n.*3105T>C)
c.3740T>C (p.Leu1247Pro)
c.4361T>C (p.Leu1454Pro)
c.4028T>C (p.Leu1343Pro)
c.4109T>C (p.Leu1370Pro)
n.1684T>C
c.4127T>C (p.Leu1376Pro)
n.4500T>C
n.1227T>C
c.3296T>C (p.Leu1099Pro)
c.3071T>C (p.Leu1024Pro)
c.4166T>C (p.Leu1389Pro)
c.2139T>C
c.*1462T>C (n.*1462T>C)
n.5105T>C
n.3706T>C
c.4217T>C (p.Leu1406Pro)
c.4265T>C (p.Leu1422Pro)
c.4325T>C (p.Leu1442Pro)
c.3875T>C (p.Leu1292Pro)
c.2177T>C (p.Leu726Pro)
c.1994T>C (p.Leu665Pro)
c.4226T>C (p.Leu1409Pro)
c.4178T>C (p.Leu1393Pro)
c.3947T>C (p.Leu1316Pro)
c.3848T>C (p.Leu1283Pro)
c.3029T>C (p.Leu1010Pro)
n.4580T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51934793A>TCA388018825ATP7Bc.*2011T>A (n.*2011T>A)
c.*3105T>A (n.*3105T>A)
c.3740T>A (p.Leu1247Gln)
c.4361T>A (p.Leu1454Gln)
c.4028T>A (p.Leu1343Gln)
c.4109T>A (p.Leu1370Gln)
n.1684T>A
c.4127T>A (p.Leu1376Gln)
n.4500T>A
n.1227T>A
c.3296T>A (p.Leu1099Gln)
c.3071T>A (p.Leu1024Gln)
c.4166T>A (p.Leu1389Gln)
c.2139T>A
c.*1462T>A (n.*1462T>A)
n.5105T>A
n.3706T>A
c.4217T>A (p.Leu1406Gln)
c.4265T>A (p.Leu1422Gln)
c.4325T>A (p.Leu1442Gln)
c.3875T>A (p.Leu1292Gln)
c.2177T>A (p.Leu726Gln)
c.1994T>A (p.Leu665Gln)
c.4226T>A (p.Leu1409Gln)
c.4178T>A (p.Leu1393Gln)
c.3947T>A (p.Leu1316Gln)
c.3848T>A (p.Leu1283Gln)
c.3029T>A (p.Leu1010Gln)
n.4580T>A
13g.51934794G>ACA484024056ATP7Bc.*2010C>T (n.*2010C>T)
c.*3104C>T (n.*3104C>T)
c.3739C>T (p.Leu1247=)
c.4360C>T (p.Leu1454=)
c.4027C>T (p.Leu1343=)
c.4108C>T (p.Leu1370=)
n.1683C>T
c.4126C>T (p.Leu1376=)
n.4499C>T
n.1226C>T
c.3295C>T (p.Leu1099=)
c.3070C>T (p.Leu1024=)
c.4165C>T (p.Leu1389=)
c.2138C>T
c.*1461C>T (n.*1461C>T)
n.5104C>T
n.3705C>T
c.4216C>T (p.Leu1406=)
c.4264C>T (p.Leu1422=)
c.4324C>T (p.Leu1442=)
c.3874C>T (p.Leu1292=)
c.2176C>T (p.Leu726=)
c.1993C>T (p.Leu665=)
c.4225C>T (p.Leu1409=)
c.4177C>T (p.Leu1393=)
c.3946C>T (p.Leu1316=)
c.3847C>T (p.Leu1283=)
c.3028C>T (p.Leu1010=)
n.4579C>T
13g.51934794G>CCA388018828ATP7Bc.*2010C>G (n.*2010C>G)
c.*3104C>G (n.*3104C>G)
c.3739C>G (p.Leu1247Val)
c.4360C>G (p.Leu1454Val)
c.4027C>G (p.Leu1343Val)
c.4108C>G (p.Leu1370Val)
n.1683C>G
c.4126C>G (p.Leu1376Val)
n.4499C>G
n.1226C>G
c.3295C>G (p.Leu1099Val)
c.3070C>G (p.Leu1024Val)
c.4165C>G (p.Leu1389Val)
c.2138C>G
c.*1461C>G (n.*1461C>G)
n.5104C>G
n.3705C>G
c.4216C>G (p.Leu1406Val)
c.4264C>G (p.Leu1422Val)
c.4324C>G (p.Leu1442Val)
c.3874C>G (p.Leu1292Val)
c.2176C>G (p.Leu726Val)
c.1993C>G (p.Leu665Val)
c.4225C>G (p.Leu1409Val)
c.4177C>G (p.Leu1393Val)
c.3946C>G (p.Leu1316Val)
c.3847C>G (p.Leu1283Val)
c.3028C>G (p.Leu1010Val)
n.4579C>G
 gnomAD v4
13g.51934794G>TCA388018831ATP7Bc.*2010C>A (n.*2010C>A)
c.*3104C>A (n.*3104C>A)
c.3739C>A (p.Leu1247Met)
c.4360C>A (p.Leu1454Met)
c.4027C>A (p.Leu1343Met)
c.4108C>A (p.Leu1370Met)
n.1683C>A
c.4126C>A (p.Leu1376Met)
n.4499C>A
n.1226C>A
c.3295C>A (p.Leu1099Met)
c.3070C>A (p.Leu1024Met)
c.4165C>A (p.Leu1389Met)
c.2138C>A
c.*1461C>A (n.*1461C>A)
n.5104C>A
n.3705C>A
c.4216C>A (p.Leu1406Met)
c.4264C>A (p.Leu1422Met)
c.4324C>A (p.Leu1442Met)
c.3874C>A (p.Leu1292Met)
c.2176C>A (p.Leu726Met)
c.1993C>A (p.Leu665Met)
c.4225C>A (p.Leu1409Met)
c.4177C>A (p.Leu1393Met)
c.3946C>A (p.Leu1316Met)
c.3847C>A (p.Leu1283Met)
c.3028C>A (p.Leu1010Met)
n.4579C>A
13g.51934795A>CCA484024057ATP7Bc.*2009T>G (n.*2009T>G)
c.*3103T>G (n.*3103T>G)
c.3738T>G (p.Ser1246=)
c.4359T>G (p.Ser1453=)
c.4026T>G (p.Ser1342=)
c.4107T>G (p.Ser1369=)
n.1682T>G
c.4125T>G (p.Ser1375=)
n.4498T>G
n.1225T>G
c.3294T>G (p.Ser1098=)
c.3069T>G (p.Ser1023=)
c.4164T>G (p.Ser1388=)
c.2137T>G
c.*1460T>G (n.*1460T>G)
n.5103T>G
n.3704T>G
c.4215T>G (p.Ser1405=)
c.4263T>G (p.Ser1421=)
c.4323T>G (p.Ser1441=)
c.3873T>G (p.Ser1291=)
c.2175T>G (p.Ser725=)
c.1992T>G (p.Ser664=)
c.4224T>G (p.Ser1408=)
c.4176T>G (p.Ser1392=)
c.3945T>G (p.Ser1315=)
c.3846T>G (p.Ser1282=)
c.3027T>G (p.Ser1009=)
n.4578T>G
13g.51934795A>GCA484024058ATP7Bc.*2009T>C (n.*2009T>C)
c.*3103T>C (n.*3103T>C)
c.3738T>C (p.Ser1246=)
c.4359T>C (p.Ser1453=)
c.4026T>C (p.Ser1342=)
c.4107T>C (p.Ser1369=)
n.1682T>C
c.4125T>C (p.Ser1375=)
n.4498T>C
n.1225T>C
c.3294T>C (p.Ser1098=)
c.3069T>C (p.Ser1023=)
c.4164T>C (p.Ser1388=)
c.2137T>C
c.*1460T>C (n.*1460T>C)
n.5103T>C
n.3704T>C
c.4215T>C (p.Ser1405=)
c.4263T>C (p.Ser1421=)
c.4323T>C (p.Ser1441=)
c.3873T>C (p.Ser1291=)
c.2175T>C (p.Ser725=)
c.1992T>C (p.Ser664=)
c.4224T>C (p.Ser1408=)
c.4176T>C (p.Ser1392=)
c.3945T>C (p.Ser1315=)
c.3846T>C (p.Ser1282=)
c.3027T>C (p.Ser1009=)
n.4578T>C
13g.51934795A>TCA484024059ATP7Bc.*2009T>A (n.*2009T>A)
c.*3103T>A (n.*3103T>A)
c.3738T>A (p.Ser1246=)
c.4359T>A (p.Ser1453=)
c.4026T>A (p.Ser1342=)
c.4107T>A (p.Ser1369=)
n.1682T>A
c.4125T>A (p.Ser1375=)
n.4498T>A
n.1225T>A
c.3294T>A (p.Ser1098=)
c.3069T>A (p.Ser1023=)
c.4164T>A (p.Ser1388=)
c.2137T>A
c.*1460T>A (n.*1460T>A)
n.5103T>A
n.3704T>A
c.4215T>A (p.Ser1405=)
c.4263T>A (p.Ser1421=)
c.4323T>A (p.Ser1441=)
c.3873T>A (p.Ser1291=)
c.2175T>A (p.Ser725=)
c.1992T>A (p.Ser664=)
c.4224T>A (p.Ser1408=)
c.4176T>A (p.Ser1392=)
c.3945T>A (p.Ser1315=)
c.3846T>A (p.Ser1282=)
c.3027T>A (p.Ser1009=)
n.4578T>A
13g.51934795_51934798dupCA2623117592ATP7Bc.*2006_*2009dup (n.*2006_*2009dup)
c.*3100_*3103dup (n.*3100_*3103dup)
c.3735_3738dup (p.Leu1247ValfsTer9)
c.4356_4359dup (p.Leu1454ValfsTer9)
c.4023_4026dup (p.Leu1343ValfsTer9)
c.4104_4107dup (p.Leu1370ValfsTer9)
n.1679_1682dup
c.4122_4125dup (p.Leu1376ValfsTer9)
n.4495_4498dup
n.1222_1225dup
c.3291_3294dup (p.Leu1099ValfsTer9)
c.3066_3069dup (p.Leu1024ValfsTer9)
c.4161_4164dup (p.Leu1389ValfsTer9)
c.2134_2137dup
c.*1457_*1460dup (n.*1457_*1460dup)
n.5100_5103dup
n.3701_3704dup
c.4212_4215dup (p.Leu1406ValfsTer9)
c.4260_4263dup (p.Leu1422ValfsTer9)
c.4320_4323dup (p.Leu1442ValfsTer9)
c.3870_3873dup (p.Leu1292ValfsTer9)
c.2172_2175dup (p.Leu726ValfsTer9)
c.1989_1992dup (p.Leu665ValfsTer9)
c.4221_4224dup (p.Leu1409ValfsTer9)
c.4173_4176dup (p.Leu1393ValfsTer9)
c.3942_3945dup (p.Leu1316ValfsTer9)
c.3843_3846dup (p.Leu1283ValfsTer9)
c.3024_3027dup (p.Leu1010ValfsTer9)
n.4575_4578dup
 gnomAD v4
13g.51934796G>ACA6988412ATP7Bc.*2008C>T (n.*2008C>T)
c.*3102C>T (n.*3102C>T)
c.3737C>T (p.Ser1246Phe)
c.4358C>T (p.Ser1453Phe)
c.4025C>T (p.Ser1342Phe)
c.4106C>T (p.Ser1369Phe)
n.1681C>T
c.4124C>T (p.Ser1375Phe)
n.4497C>T
n.1224C>T
c.3293C>T (p.Ser1098Phe)
c.3068C>T (p.Ser1023Phe)
c.4163C>T (p.Ser1388Phe)
c.2136C>T
c.*1459C>T (n.*1459C>T)
n.5102C>T
n.3703C>T
c.4214C>T (p.Ser1405Phe)
c.4262C>T (p.Ser1421Phe)
c.4322C>T (p.Ser1441Phe)
c.3872C>T (p.Ser1291Phe)
c.2174C>T (p.Ser725Phe)
c.1991C>T (p.Ser664Phe)
c.4223C>T (p.Ser1408Phe)
c.4175C>T (p.Ser1392Phe)
c.3944C>T (p.Ser1315Phe)
c.3845C>T (p.Ser1282Phe)
c.3026C>T (p.Ser1009Phe)
n.4577C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934796G>CCA388018839ATP7Bc.*2008C>G (n.*2008C>G)
c.*3102C>G (n.*3102C>G)
c.3737C>G (p.Ser1246Cys)
c.4358C>G (p.Ser1453Cys)
c.4025C>G (p.Ser1342Cys)
c.4106C>G (p.Ser1369Cys)
n.1681C>G
c.4124C>G (p.Ser1375Cys)
n.4497C>G
n.1224C>G
c.3293C>G (p.Ser1098Cys)
c.3068C>G (p.Ser1023Cys)
c.4163C>G (p.Ser1388Cys)
c.2136C>G
c.*1459C>G (n.*1459C>G)
n.5102C>G
n.3703C>G
c.4214C>G (p.Ser1405Cys)
c.4262C>G (p.Ser1421Cys)
c.4322C>G (p.Ser1441Cys)
c.3872C>G (p.Ser1291Cys)
c.2174C>G (p.Ser725Cys)
c.1991C>G (p.Ser664Cys)
c.4223C>G (p.Ser1408Cys)
c.4175C>G (p.Ser1392Cys)
c.3944C>G (p.Ser1315Cys)
c.3845C>G (p.Ser1282Cys)
c.3026C>G (p.Ser1009Cys)
n.4577C>G
 gnomAD v4
13g.51934796G=CA2091550204ATP7Bc.*2008C= (n.*2008C=)
c.*3102C= (n.*3102C=)
c.3737C= (p.Ser1246=)
c.4358C= (p.Ser1453=)
c.4025C= (p.Ser1342=)
c.4106C= (p.Ser1369=)
n.1681C=
c.4124C= (p.Ser1375=)
n.4497C=
n.1224C=
c.3293C= (p.Ser1098=)
c.3068C= (p.Ser1023=)
c.4163C= (p.Ser1388=)
c.2136C=
c.*1459C= (n.*1459C=)
n.5102C=
n.3703C=
c.4214C= (p.Ser1405=)
c.4262C= (p.Ser1421=)
c.4322C= (p.Ser1441=)
c.3872C= (p.Ser1291=)
c.2174C= (p.Ser725=)
c.1991C= (p.Ser664=)
c.4223C= (p.Ser1408=)
c.4175C= (p.Ser1392=)
c.3944C= (p.Ser1315=)
c.3845C= (p.Ser1282=)
c.3026C= (p.Ser1009=)
n.4577C=
13g.51934796G>TCA388018843ATP7Bc.*2008C>A (n.*2008C>A)
c.*3102C>A (n.*3102C>A)
c.3737C>A (p.Ser1246Tyr)
c.4358C>A (p.Ser1453Tyr)
c.4025C>A (p.Ser1342Tyr)
c.4106C>A (p.Ser1369Tyr)
n.1681C>A
c.4124C>A (p.Ser1375Tyr)
n.4497C>A
n.1224C>A
c.3293C>A (p.Ser1098Tyr)
c.3068C>A (p.Ser1023Tyr)
c.4163C>A (p.Ser1388Tyr)
c.2136C>A
c.*1459C>A (n.*1459C>A)
n.5102C>A
n.3703C>A
c.4214C>A (p.Ser1405Tyr)
c.4262C>A (p.Ser1421Tyr)
c.4322C>A (p.Ser1441Tyr)
c.3872C>A (p.Ser1291Tyr)
c.2174C>A (p.Ser725Tyr)
c.1991C>A (p.Ser664Tyr)
c.4223C>A (p.Ser1408Tyr)
c.4175C>A (p.Ser1392Tyr)
c.3944C>A (p.Ser1315Tyr)
c.3845C>A (p.Ser1282Tyr)
c.3026C>A (p.Ser1009Tyr)
n.4577C>A
13g.51934797A>CCA388018846ATP7Bc.*2007T>G (n.*2007T>G)
c.*3101T>G (n.*3101T>G)
c.3736T>G (p.Ser1246Ala)
c.4357T>G (p.Ser1453Ala)
c.4024T>G (p.Ser1342Ala)
c.4105T>G (p.Ser1369Ala)
n.1680T>G
c.4123T>G (p.Ser1375Ala)
n.4496T>G
n.1223T>G
c.3292T>G (p.Ser1098Ala)
c.3067T>G (p.Ser1023Ala)
c.4162T>G (p.Ser1388Ala)
c.2135T>G
c.*1458T>G (n.*1458T>G)
n.5101T>G
n.3702T>G
c.4213T>G (p.Ser1405Ala)
c.4261T>G (p.Ser1421Ala)
c.4321T>G (p.Ser1441Ala)
c.3871T>G (p.Ser1291Ala)
c.2173T>G (p.Ser725Ala)
c.1990T>G (p.Ser664Ala)
c.4222T>G (p.Ser1408Ala)
c.4174T>G (p.Ser1392Ala)
c.3943T>G (p.Ser1315Ala)
c.3844T>G (p.Ser1282Ala)
c.3025T>G (p.Ser1009Ala)
n.4576T>G
 gnomAD v4
13g.51934797A>GCA388018849ATP7Bc.*2007T>C (n.*2007T>C)
c.*3101T>C (n.*3101T>C)
c.3736T>C (p.Ser1246Pro)
c.4357T>C (p.Ser1453Pro)
c.4024T>C (p.Ser1342Pro)
c.4105T>C (p.Ser1369Pro)
n.1680T>C
c.4123T>C (p.Ser1375Pro)
n.4496T>C
n.1223T>C
c.3292T>C (p.Ser1098Pro)
c.3067T>C (p.Ser1023Pro)
c.4162T>C (p.Ser1388Pro)
c.2135T>C
c.*1458T>C (n.*1458T>C)
n.5101T>C
n.3702T>C
c.4213T>C (p.Ser1405Pro)
c.4261T>C (p.Ser1421Pro)
c.4321T>C (p.Ser1441Pro)
c.3871T>C (p.Ser1291Pro)
c.2173T>C (p.Ser725Pro)
c.1990T>C (p.Ser664Pro)
c.4222T>C (p.Ser1408Pro)
c.4174T>C (p.Ser1392Pro)
c.3943T>C (p.Ser1315Pro)
c.3844T>C (p.Ser1282Pro)
c.3025T>C (p.Ser1009Pro)
n.4576T>C
 gnomAD v4
13g.51934797A>TCA388018850ATP7Bc.*2007T>A (n.*2007T>A)
c.*3101T>A (n.*3101T>A)
c.3736T>A (p.Ser1246Thr)
c.4357T>A (p.Ser1453Thr)
c.4024T>A (p.Ser1342Thr)
c.4105T>A (p.Ser1369Thr)
n.1680T>A
c.4123T>A (p.Ser1375Thr)
n.4496T>A
n.1223T>A
c.3292T>A (p.Ser1098Thr)
c.3067T>A (p.Ser1023Thr)
c.4162T>A (p.Ser1388Thr)
c.2135T>A
c.*1458T>A (n.*1458T>A)
n.5101T>A
n.3702T>A
c.4213T>A (p.Ser1405Thr)
c.4261T>A (p.Ser1421Thr)
c.4321T>A (p.Ser1441Thr)
c.3871T>A (p.Ser1291Thr)
c.2173T>A (p.Ser725Thr)
c.1990T>A (p.Ser664Thr)
c.4222T>A (p.Ser1408Thr)
c.4174T>A (p.Ser1392Thr)
c.3943T>A (p.Ser1315Thr)
c.3844T>A (p.Ser1282Thr)
c.3025T>A (p.Ser1009Thr)
n.4576T>A
13g.51934797_51934800dupCA2580087647ATP7Bc.*2004_*2007dup (n.*2004_*2007dup)
c.*3098_*3101dup (n.*3098_*3101dup)
c.3733_3736dup (p.Ser1246LeufsTer10)
c.4354_4357dup (p.Ser1453LeufsTer10)
c.4021_4024dup (p.Ser1342LeufsTer10)
c.4102_4105dup (p.Ser1369LeufsTer10)
n.1677_1680dup
c.4120_4123dup (p.Ser1375LeufsTer10)
n.4493_4496dup
n.1220_1223dup
c.3289_3292dup (p.Ser1098LeufsTer10)
c.3064_3067dup (p.Ser1023LeufsTer10)
c.4159_4162dup (p.Ser1388LeufsTer10)
c.2132_2135dup
c.*1455_*1458dup (n.*1455_*1458dup)
n.5098_5101dup
n.3699_3702dup
c.4210_4213dup (p.Ser1405LeufsTer10)
c.4258_4261dup (p.Ser1421LeufsTer10)
c.4318_4321dup (p.Ser1441LeufsTer10)
c.3868_3871dup (p.Ser1291LeufsTer10)
c.2170_2173dup (p.Ser725LeufsTer10)
c.1987_1990dup (p.Ser664LeufsTer10)
c.4219_4222dup (p.Ser1408LeufsTer10)
c.4171_4174dup (p.Ser1392LeufsTer10)
c.3940_3943dup (p.Ser1315LeufsTer10)
c.3841_3844dup (p.Ser1282LeufsTer10)
c.3022_3025dup (p.Ser1009LeufsTer10)
n.4573_4576dup
 ClinVar
13g.51934798C>ACA388018857ATP7Bc.*2006G>T (n.*2006G>T)
c.*3100G>T (n.*3100G>T)
c.3735G>T (p.Trp1245Cys)
c.4356G>T (p.Trp1452Cys)
c.4023G>T (p.Trp1341Cys)
c.4104G>T (p.Trp1368Cys)
n.1679G>T
c.4122G>T (p.Trp1374Cys)
n.4495G>T
n.1222G>T
c.3291G>T (p.Trp1097Cys)
c.3066G>T (p.Trp1022Cys)
c.4161G>T (p.Trp1387Cys)
c.2134G>T
c.*1457G>T (n.*1457G>T)
n.5100G>T
n.3701G>T
c.4212G>T (p.Trp1404Cys)
c.4260G>T (p.Trp1420Cys)
c.4320G>T (p.Trp1440Cys)
c.3870G>T (p.Trp1290Cys)
c.2172G>T (p.Trp724Cys)
c.1989G>T (p.Trp663Cys)
c.4221G>T (p.Trp1407Cys)
c.4173G>T (p.Trp1391Cys)
c.3942G>T (p.Trp1314Cys)
c.3843G>T (p.Trp1281Cys)
c.3024G>T (p.Trp1008Cys)
n.4575G>T
 dbSNP gnomAD v2 gnomAD v4
13g.51934798C=CA2091550205ATP7Bc.*2006G= (n.*2006G=)
c.*3100G= (n.*3100G=)
c.3735G= (p.Trp1245=)
c.4356G= (p.Trp1452=)
c.4023G= (p.Trp1341=)
c.4104G= (p.Trp1368=)
n.1679G=
c.4122G= (p.Trp1374=)
n.4495G=
n.1222G=
c.3291G= (p.Trp1097=)
c.3066G= (p.Trp1022=)
c.4161G= (p.Trp1387=)
c.2134G=
c.*1457G= (n.*1457G=)
n.5100G=
n.3701G=
c.4212G= (p.Trp1404=)
c.4260G= (p.Trp1420=)
c.4320G= (p.Trp1440=)
c.3870G= (p.Trp1290=)
c.2172G= (p.Trp724=)
c.1989G= (p.Trp663=)
c.4221G= (p.Trp1407=)
c.4173G= (p.Trp1391=)
c.3942G= (p.Trp1314=)
c.3843G= (p.Trp1281=)
c.3024G= (p.Trp1008=)
n.4575G=
13g.51934798C>GCA388018856ATP7Bc.*2006G>C (n.*2006G>C)
c.*3100G>C (n.*3100G>C)
c.3735G>C (p.Trp1245Cys)
c.4356G>C (p.Trp1452Cys)
c.4023G>C (p.Trp1341Cys)
c.4104G>C (p.Trp1368Cys)
n.1679G>C
c.4122G>C (p.Trp1374Cys)
n.4495G>C
n.1222G>C
c.3291G>C (p.Trp1097Cys)
c.3066G>C (p.Trp1022Cys)
c.4161G>C (p.Trp1387Cys)
c.2134G>C
c.*1457G>C (n.*1457G>C)
n.5100G>C
n.3701G>C
c.4212G>C (p.Trp1404Cys)
c.4260G>C (p.Trp1420Cys)
c.4320G>C (p.Trp1440Cys)
c.3870G>C (p.Trp1290Cys)
c.2172G>C (p.Trp724Cys)
c.1989G>C (p.Trp663Cys)
c.4221G>C (p.Trp1407Cys)
c.4173G>C (p.Trp1391Cys)
c.3942G>C (p.Trp1314Cys)
c.3843G>C (p.Trp1281Cys)
c.3024G>C (p.Trp1008Cys)
n.4575G>C
13g.51934798C>TCA388018852ATP7Bc.*2006G>A (n.*2006G>A)
c.*3100G>A (n.*3100G>A)
c.3735G>A (p.Trp1245Ter)
c.4356G>A (p.Trp1452Ter)
c.4023G>A (p.Trp1341Ter)
c.4104G>A (p.Trp1368Ter)
n.1679G>A
c.4122G>A (p.Trp1374Ter)
n.4495G>A
n.1222G>A
c.3291G>A (p.Trp1097Ter)
c.3066G>A (p.Trp1022Ter)
c.4161G>A (p.Trp1387Ter)
c.2134G>A
c.*1457G>A (n.*1457G>A)
n.5100G>A
n.3701G>A
c.4212G>A (p.Trp1404Ter)
c.4260G>A (p.Trp1420Ter)
c.4320G>A (p.Trp1440Ter)
c.3870G>A (p.Trp1290Ter)
c.2172G>A (p.Trp724Ter)
c.1989G>A (p.Trp663Ter)
c.4221G>A (p.Trp1407Ter)
c.4173G>A (p.Trp1391Ter)
c.3942G>A (p.Trp1314Ter)
c.3843G>A (p.Trp1281Ter)
c.3024G>A (p.Trp1008Ter)
n.4575G>A
 ClinVar
13g.51934799C>ACA388018864ATP7Bc.*2005G>T (n.*2005G>T)
c.*3099G>T (n.*3099G>T)
c.3734G>T (p.Trp1245Leu)
c.4355G>T (p.Trp1452Leu)
c.4022G>T (p.Trp1341Leu)
c.4103G>T (p.Trp1368Leu)
n.1678G>T
c.4121G>T (p.Trp1374Leu)
n.4494G>T
n.1221G>T
c.3290G>T (p.Trp1097Leu)
c.3065G>T (p.Trp1022Leu)
c.4160G>T (p.Trp1387Leu)
c.2133G>T
c.*1456G>T (n.*1456G>T)
n.5099G>T
n.3700G>T
c.4211G>T (p.Trp1404Leu)
c.4259G>T (p.Trp1420Leu)
c.4319G>T (p.Trp1440Leu)
c.3869G>T (p.Trp1290Leu)
c.2171G>T (p.Trp724Leu)
c.1988G>T (p.Trp663Leu)
c.4220G>T (p.Trp1407Leu)
c.4172G>T (p.Trp1391Leu)
c.3941G>T (p.Trp1314Leu)
c.3842G>T (p.Trp1281Leu)
c.3023G>T (p.Trp1008Leu)
n.4574G>T
13g.51934799C=CA2091550207ATP7Bc.*2005G= (n.*2005G=)
c.*3099G= (n.*3099G=)
c.3734G= (p.Trp1245=)
c.4355G= (p.Trp1452=)
c.4022G= (p.Trp1341=)
c.4103G= (p.Trp1368=)
n.1678G=
c.4121G= (p.Trp1374=)
n.4494G=
n.1221G=
c.3290G= (p.Trp1097=)
c.3065G= (p.Trp1022=)
c.4160G= (p.Trp1387=)
c.2133G=
c.*1456G= (n.*1456G=)
n.5099G=
n.3700G=
c.4211G= (p.Trp1404=)
c.4259G= (p.Trp1420=)
c.4319G= (p.Trp1440=)
c.3869G= (p.Trp1290=)
c.2171G= (p.Trp724=)
c.1988G= (p.Trp663=)
c.4220G= (p.Trp1407=)
c.4172G= (p.Trp1391=)
c.3941G= (p.Trp1314=)
c.3842G= (p.Trp1281=)
c.3023G= (p.Trp1008=)
n.4574G=
13g.51934799C>GCA388018862ATP7Bc.*2005G>C (n.*2005G>C)
c.*3099G>C (n.*3099G>C)
c.3734G>C (p.Trp1245Ser)
c.4355G>C (p.Trp1452Ser)
c.4022G>C (p.Trp1341Ser)
c.4103G>C (p.Trp1368Ser)
n.1678G>C
c.4121G>C (p.Trp1374Ser)
n.4494G>C
n.1221G>C
c.3290G>C (p.Trp1097Ser)
c.3065G>C (p.Trp1022Ser)
c.4160G>C (p.Trp1387Ser)
c.2133G>C
c.*1456G>C (n.*1456G>C)
n.5099G>C
n.3700G>C
c.4211G>C (p.Trp1404Ser)
c.4259G>C (p.Trp1420Ser)
c.4319G>C (p.Trp1440Ser)
c.3869G>C (p.Trp1290Ser)
c.2171G>C (p.Trp724Ser)
c.1988G>C (p.Trp663Ser)
c.4220G>C (p.Trp1407Ser)
c.4172G>C (p.Trp1391Ser)
c.3941G>C (p.Trp1314Ser)
c.3842G>C (p.Trp1281Ser)
c.3023G>C (p.Trp1008Ser)
n.4574G>C
13g.51934799C>TCA250071444ATP7Bc.*2005G>A (n.*2005G>A)
c.*3099G>A (n.*3099G>A)
c.3734G>A (p.Trp1245Ter)
c.4355G>A (p.Trp1452Ter)
c.4022G>A (p.Trp1341Ter)
c.4103G>A (p.Trp1368Ter)
n.1678G>A
c.4121G>A (p.Trp1374Ter)
n.4494G>A
n.1221G>A
c.3290G>A (p.Trp1097Ter)
c.3065G>A (p.Trp1022Ter)
c.4160G>A (p.Trp1387Ter)
c.2133G>A
c.*1456G>A (n.*1456G>A)
n.5099G>A
n.3700G>A
c.4211G>A (p.Trp1404Ter)
c.4259G>A (p.Trp1420Ter)
c.4319G>A (p.Trp1440Ter)
c.3869G>A (p.Trp1290Ter)
c.2171G>A (p.Trp724Ter)
c.1988G>A (p.Trp663Ter)
c.4220G>A (p.Trp1407Ter)
c.4172G>A (p.Trp1391Ter)
c.3941G>A (p.Trp1314Ter)
c.3842G>A (p.Trp1281Ter)
c.3023G>A (p.Trp1008Ter)
n.4574G>A
 ClinVar dbSNP gnomAD v4
13g.51934800A>CCA388018865ATP7Bc.*2004T>G (n.*2004T>G)
c.*3098T>G (n.*3098T>G)
c.3733T>G (p.Trp1245Gly)
c.4354T>G (p.Trp1452Gly)
c.4021T>G (p.Trp1341Gly)
c.4102T>G (p.Trp1368Gly)
n.1677T>G
c.4120T>G (p.Trp1374Gly)
n.4493T>G
n.1220T>G
c.3289T>G (p.Trp1097Gly)
c.3064T>G (p.Trp1022Gly)
c.4159T>G (p.Trp1387Gly)
c.2132T>G
c.*1455T>G (n.*1455T>G)
n.5098T>G
n.3699T>G
c.4210T>G (p.Trp1404Gly)
c.4258T>G (p.Trp1420Gly)
c.4318T>G (p.Trp1440Gly)
c.3868T>G (p.Trp1290Gly)
c.2170T>G (p.Trp724Gly)
c.1987T>G (p.Trp663Gly)
c.4219T>G (p.Trp1407Gly)
c.4171T>G (p.Trp1391Gly)
c.3940T>G (p.Trp1314Gly)
c.3841T>G (p.Trp1281Gly)
c.3022T>G (p.Trp1008Gly)
n.4573T>G
13g.51934800A>GCA388018866ATP7Bc.*2004T>C (n.*2004T>C)
c.*3098T>C (n.*3098T>C)
c.3733T>C (p.Trp1245Arg)
c.4354T>C (p.Trp1452Arg)
c.4021T>C (p.Trp1341Arg)
c.4102T>C (p.Trp1368Arg)
n.1677T>C
c.4120T>C (p.Trp1374Arg)
n.4493T>C
n.1220T>C
c.3289T>C (p.Trp1097Arg)
c.3064T>C (p.Trp1022Arg)
c.4159T>C (p.Trp1387Arg)
c.2132T>C
c.*1455T>C (n.*1455T>C)
n.5098T>C
n.3699T>C
c.4210T>C (p.Trp1404Arg)
c.4258T>C (p.Trp1420Arg)
c.4318T>C (p.Trp1440Arg)
c.3868T>C (p.Trp1290Arg)
c.2170T>C (p.Trp724Arg)
c.1987T>C (p.Trp663Arg)
c.4219T>C (p.Trp1407Arg)
c.4171T>C (p.Trp1391Arg)
c.3940T>C (p.Trp1314Arg)
c.3841T>C (p.Trp1281Arg)
c.3022T>C (p.Trp1008Arg)
n.4573T>C
13g.51934800A>TCA388018867ATP7Bc.*2004T>A (n.*2004T>A)
c.*3098T>A (n.*3098T>A)
c.3733T>A (p.Trp1245Arg)
c.4354T>A (p.Trp1452Arg)
c.4021T>A (p.Trp1341Arg)
c.4102T>A (p.Trp1368Arg)
n.1677T>A
c.4120T>A (p.Trp1374Arg)
n.4493T>A
n.1220T>A
c.3289T>A (p.Trp1097Arg)
c.3064T>A (p.Trp1022Arg)
c.4159T>A (p.Trp1387Arg)
c.2132T>A
c.*1455T>A (n.*1455T>A)
n.5098T>A
n.3699T>A
c.4210T>A (p.Trp1404Arg)
c.4258T>A (p.Trp1420Arg)
c.4318T>A (p.Trp1440Arg)
c.3868T>A (p.Trp1290Arg)
c.2170T>A (p.Trp724Arg)
c.1987T>A (p.Trp663Arg)
c.4219T>A (p.Trp1407Arg)
c.4171T>A (p.Trp1391Arg)
c.3940T>A (p.Trp1314Arg)
c.3841T>A (p.Trp1281Arg)
c.3022T>A (p.Trp1008Arg)
n.4573T>A
13g.51934800_51934801delinsACCA2091550209ATP7Bc.*2003_*2004delinsGT (n.*2003_*2004delinsGT)
c.*3097_*3098delinsGT (n.*3097_*3098delinsGT)
c.3732_3733delinsGT (p.Lys1244=)
c.4353_4354delinsGT (p.Lys1451=)
c.4020_4021delinsGT (p.Lys1340=)
c.4101_4102delinsGT (p.Lys1367=)
n.1676_1677delinsGT
c.4119_4120delinsGT (p.Lys1373=)
n.4492_4493delinsGT
n.1219_1220delinsGT
c.3288_3289delinsGT (p.Lys1096=)
c.3063_3064delinsGT (p.Lys1021=)
c.4158_4159delinsGT (p.Lys1386=)
c.2131_2132delinsGT
c.*1454_*1455delinsGT (n.*1454_*1455delinsGT)
n.5097_5098delinsGT
n.3698_3699delinsGT
c.4209_4210delinsGT (p.Lys1403=)
c.4257_4258delinsGT (p.Lys1419=)
c.4317_4318delinsGT (p.Lys1439=)
c.3867_3868delinsGT (p.Lys1289=)
c.2169_2170delinsGT (p.Lys723=)
c.1986_1987delinsGT (p.Lys662=)
c.4218_4219delinsGT (p.Lys1406=)
c.4170_4171delinsGT (p.Lys1390=)
c.3939_3940delinsGT (p.Lys1313=)
c.3840_3841delinsGT (p.Lys1280=)
c.3021_3022delinsGT (p.Lys1007=)
n.4572_4573delinsGT
13g.51934801delCA610425732ATP7Bc.*2003del (n.*2003del)
c.*3097del (n.*3097del)
c.3732del (p.Lys1244AsnfsTer6)
c.4353del (p.Lys1451AsnfsTer6)
c.4020del (p.Lys1340AsnfsTer6)
c.4101del (p.Lys1367AsnfsTer6)
n.1676del
c.4119del (p.Lys1373AsnfsTer6)
n.4492del
n.1219del
c.3288del (p.Lys1096AsnfsTer6)
c.3063del (p.Lys1021AsnfsTer6)
c.4158del (p.Lys1386AsnfsTer6)
c.2131del
c.*1454del (n.*1454del)
n.5097del
n.3698del
c.4209del (p.Lys1403AsnfsTer6)
c.4257del (p.Lys1419AsnfsTer6)
c.4317del (p.Lys1439AsnfsTer6)
c.3867del (p.Lys1289AsnfsTer6)
c.2169del (p.Lys723AsnfsTer6)
c.1986del (p.Lys662AsnfsTer6)
c.4218del (p.Lys1406AsnfsTer6)
c.4170del (p.Lys1390AsnfsTer6)
c.3939del (p.Lys1313AsnfsTer6)
c.3840del (p.Lys1280AsnfsTer6)
c.3021del (p.Lys1007AsnfsTer6)
n.4572del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51934801C>ACA388018868ATP7Bc.*2003G>T (n.*2003G>T)
c.*3097G>T (n.*3097G>T)
c.3732G>T (p.Lys1244Asn)
c.4353G>T (p.Lys1451Asn)
c.4020G>T (p.Lys1340Asn)
c.4101G>T (p.Lys1367Asn)
n.1676G>T
c.4119G>T (p.Lys1373Asn)
n.4492G>T
n.1219G>T
c.3288G>T (p.Lys1096Asn)
c.3063G>T (p.Lys1021Asn)
c.4158G>T (p.Lys1386Asn)
c.2131G>T
c.*1454G>T (n.*1454G>T)
n.5097G>T
n.3698G>T
c.4209G>T (p.Lys1403Asn)
c.4257G>T (p.Lys1419Asn)
c.4317G>T (p.Lys1439Asn)
c.3867G>T (p.Lys1289Asn)
c.2169G>T (p.Lys723Asn)
c.1986G>T (p.Lys662Asn)
c.4218G>T (p.Lys1406Asn)
c.4170G>T (p.Lys1390Asn)
c.3939G>T (p.Lys1313Asn)
c.3840G>T (p.Lys1280Asn)
c.3021G>T (p.Lys1007Asn)
n.4572G>T
13g.51934801C>GCA388018870ATP7Bc.*2003G>C (n.*2003G>C)
c.*3097G>C (n.*3097G>C)
c.3732G>C (p.Lys1244Asn)
c.4353G>C (p.Lys1451Asn)
c.4020G>C (p.Lys1340Asn)
c.4101G>C (p.Lys1367Asn)
n.1676G>C
c.4119G>C (p.Lys1373Asn)
n.4492G>C
n.1219G>C
c.3288G>C (p.Lys1096Asn)
c.3063G>C (p.Lys1021Asn)
c.4158G>C (p.Lys1386Asn)
c.2131G>C
c.*1454G>C (n.*1454G>C)
n.5097G>C
n.3698G>C
c.4209G>C (p.Lys1403Asn)
c.4257G>C (p.Lys1419Asn)
c.4317G>C (p.Lys1439Asn)
c.3867G>C (p.Lys1289Asn)
c.2169G>C (p.Lys723Asn)
c.1986G>C (p.Lys662Asn)
c.4218G>C (p.Lys1406Asn)
c.4170G>C (p.Lys1390Asn)
c.3939G>C (p.Lys1313Asn)
c.3840G>C (p.Lys1280Asn)
c.3021G>C (p.Lys1007Asn)
n.4572G>C
13g.51934801C>TCA484024061ATP7Bc.*2003G>A (n.*2003G>A)
c.*3097G>A (n.*3097G>A)
c.3732G>A (p.Lys1244=)
c.4353G>A (p.Lys1451=)
c.4020G>A (p.Lys1340=)
c.4101G>A (p.Lys1367=)
n.1676G>A
c.4119G>A (p.Lys1373=)
n.4492G>A
n.1219G>A
c.3288G>A (p.Lys1096=)
c.3063G>A (p.Lys1021=)
c.4158G>A (p.Lys1386=)
c.2131G>A
c.*1454G>A (n.*1454G>A)
n.5097G>A
n.3698G>A
c.4209G>A (p.Lys1403=)
c.4257G>A (p.Lys1419=)
c.4317G>A (p.Lys1439=)
c.3867G>A (p.Lys1289=)
c.2169G>A (p.Lys723=)
c.1986G>A (p.Lys662=)
c.4218G>A (p.Lys1406=)
c.4170G>A (p.Lys1390=)
c.3939G>A (p.Lys1313=)
c.3840G>A (p.Lys1280=)
c.3021G>A (p.Lys1007=)
n.4572G>A
13g.51934802T>ACA388018872ATP7Bc.*2002A>T (n.*2002A>T)
c.*3096A>T (n.*3096A>T)
c.3731A>T (p.Lys1244Met)
c.4352A>T (p.Lys1451Met)
c.4019A>T (p.Lys1340Met)
c.4100A>T (p.Lys1367Met)
n.1675A>T
c.4118A>T (p.Lys1373Met)
n.4491A>T
n.1218A>T
c.3287A>T (p.Lys1096Met)
c.3062A>T (p.Lys1021Met)
c.4157A>T (p.Lys1386Met)
c.2130A>T
c.*1453A>T (n.*1453A>T)
n.5096A>T
n.3697A>T
c.4208A>T (p.Lys1403Met)
c.4256A>T (p.Lys1419Met)
c.4316A>T (p.Lys1439Met)
c.3866A>T (p.Lys1289Met)
c.2168A>T (p.Lys723Met)
c.1985A>T (p.Lys662Met)
c.4217A>T (p.Lys1406Met)
c.4169A>T (p.Lys1390Met)
c.3938A>T (p.Lys1313Met)
c.3839A>T (p.Lys1280Met)
c.3020A>T (p.Lys1007Met)
n.4571A>T
13g.51934802T>CCA388018874ATP7Bc.*2002A>G (n.*2002A>G)
c.*3096A>G (n.*3096A>G)
c.3731A>G (p.Lys1244Arg)
c.4352A>G (p.Lys1451Arg)
c.4019A>G (p.Lys1340Arg)
c.4100A>G (p.Lys1367Arg)
n.1675A>G
c.4118A>G (p.Lys1373Arg)
n.4491A>G
n.1218A>G
c.3287A>G (p.Lys1096Arg)
c.3062A>G (p.Lys1021Arg)
c.4157A>G (p.Lys1386Arg)
c.2130A>G
c.*1453A>G (n.*1453A>G)
n.5096A>G
n.3697A>G
c.4208A>G (p.Lys1403Arg)
c.4256A>G (p.Lys1419Arg)
c.4316A>G (p.Lys1439Arg)
c.3866A>G (p.Lys1289Arg)
c.2168A>G (p.Lys723Arg)
c.1985A>G (p.Lys662Arg)
c.4217A>G (p.Lys1406Arg)
c.4169A>G (p.Lys1390Arg)
c.3938A>G (p.Lys1313Arg)
c.3839A>G (p.Lys1280Arg)
c.3020A>G (p.Lys1007Arg)
n.4571A>G
13g.51934802T>GCA388018875ATP7Bc.*2002A>C (n.*2002A>C)
c.*3096A>C (n.*3096A>C)
c.3731A>C (p.Lys1244Thr)
c.4352A>C (p.Lys1451Thr)
c.4019A>C (p.Lys1340Thr)
c.4100A>C (p.Lys1367Thr)
n.1675A>C
c.4118A>C (p.Lys1373Thr)
n.4491A>C
n.1218A>C
c.3287A>C (p.Lys1096Thr)
c.3062A>C (p.Lys1021Thr)
c.4157A>C (p.Lys1386Thr)
c.2130A>C
c.*1453A>C (n.*1453A>C)
n.5096A>C
n.3697A>C
c.4208A>C (p.Lys1403Thr)
c.4256A>C (p.Lys1419Thr)
c.4316A>C (p.Lys1439Thr)
c.3866A>C (p.Lys1289Thr)
c.2168A>C (p.Lys723Thr)
c.1985A>C (p.Lys662Thr)
c.4217A>C (p.Lys1406Thr)
c.4169A>C (p.Lys1390Thr)
c.3938A>C (p.Lys1313Thr)
c.3839A>C (p.Lys1280Thr)
c.3020A>C (p.Lys1007Thr)
n.4571A>C
13g.51934803T>ACA388018876ATP7Bc.*2001A>T (n.*2001A>T)
c.*3095A>T (n.*3095A>T)
c.3730A>T (p.Lys1244Ter)
c.4351A>T (p.Lys1451Ter)
c.4018A>T (p.Lys1340Ter)
c.4099A>T (p.Lys1367Ter)
n.1674A>T
c.4117A>T (p.Lys1373Ter)
n.4490A>T
n.1217A>T
c.3286A>T (p.Lys1096Ter)
c.3061A>T (p.Lys1021Ter)
c.4156A>T (p.Lys1386Ter)
c.2129A>T
c.*1452A>T (n.*1452A>T)
n.5095A>T
n.3696A>T
c.4207A>T (p.Lys1403Ter)
c.4255A>T (p.Lys1419Ter)
c.4315A>T (p.Lys1439Ter)
c.3865A>T (p.Lys1289Ter)
c.2167A>T (p.Lys723Ter)
c.1984A>T (p.Lys662Ter)
c.4216A>T (p.Lys1406Ter)
c.4168A>T (p.Lys1390Ter)
c.3937A>T (p.Lys1313Ter)
c.3838A>T (p.Lys1280Ter)
c.3019A>T (p.Lys1007Ter)
n.4570A>T
13g.51934803T>CCA388018877ATP7Bc.*2001A>G (n.*2001A>G)
c.*3095A>G (n.*3095A>G)
c.3730A>G (p.Lys1244Glu)
c.4351A>G (p.Lys1451Glu)
c.4018A>G (p.Lys1340Glu)
c.4099A>G (p.Lys1367Glu)
n.1674A>G
c.4117A>G (p.Lys1373Glu)
n.4490A>G
n.1217A>G
c.3286A>G (p.Lys1096Glu)
c.3061A>G (p.Lys1021Glu)
c.4156A>G (p.Lys1386Glu)
c.2129A>G
c.*1452A>G (n.*1452A>G)
n.5095A>G
n.3696A>G
c.4207A>G (p.Lys1403Glu)
c.4255A>G (p.Lys1419Glu)
c.4315A>G (p.Lys1439Glu)
c.3865A>G (p.Lys1289Glu)
c.2167A>G (p.Lys723Glu)
c.1984A>G (p.Lys662Glu)
c.4216A>G (p.Lys1406Glu)
c.4168A>G (p.Lys1390Glu)
c.3937A>G (p.Lys1313Glu)
c.3838A>G (p.Lys1280Glu)
c.3019A>G (p.Lys1007Glu)
n.4570A>G
13g.51934803T>GCA388018879ATP7Bc.*2001A>C (n.*2001A>C)
c.*3095A>C (n.*3095A>C)
c.3730A>C (p.Lys1244Gln)
c.4351A>C (p.Lys1451Gln)
c.4018A>C (p.Lys1340Gln)
c.4099A>C (p.Lys1367Gln)
n.1674A>C
c.4117A>C (p.Lys1373Gln)
n.4490A>C
n.1217A>C
c.3286A>C (p.Lys1096Gln)
c.3061A>C (p.Lys1021Gln)
c.4156A>C (p.Lys1386Gln)
c.2129A>C
c.*1452A>C (n.*1452A>C)
n.5095A>C
n.3696A>C
c.4207A>C (p.Lys1403Gln)
c.4255A>C (p.Lys1419Gln)
c.4315A>C (p.Lys1439Gln)
c.3865A>C (p.Lys1289Gln)
c.2167A>C (p.Lys723Gln)
c.1984A>C (p.Lys662Gln)
c.4216A>C (p.Lys1406Gln)
c.4168A>C (p.Lys1390Gln)
c.3937A>C (p.Lys1313Gln)
c.3838A>C (p.Lys1280Gln)
c.3019A>C (p.Lys1007Gln)
n.4570A>C
13g.51934804G>ACA484024064ATP7Bc.*2000C>T (n.*2000C>T)
c.*3094C>T (n.*3094C>T)
c.3729C>T (p.Asp1243=)
c.4350C>T (p.Asp1450=)
c.4017C>T (p.Asp1339=)
c.4098C>T (p.Asp1366=)
n.1673C>T
c.4116C>T (p.Asp1372=)
n.4489C>T
n.1216C>T
c.3285C>T (p.Asp1095=)
c.3060C>T (p.Asp1020=)
c.4155C>T (p.Asp1385=)
c.2128C>T
c.*1451C>T (n.*1451C>T)
n.5094C>T
n.3695C>T
c.4206C>T (p.Asp1402=)
c.4254C>T (p.Asp1418=)
c.4314C>T (p.Asp1438=)
c.3864C>T (p.Asp1288=)
c.2166C>T (p.Asp722=)
c.1983C>T (p.Asp661=)
c.4215C>T (p.Asp1405=)
c.4167C>T (p.Asp1389=)
c.3936C>T (p.Asp1312=)
c.3837C>T (p.Asp1279=)
c.3018C>T (p.Asp1006=)
n.4569C>T
 dbSNP gnomAD v2 gnomAD v4
13g.51934804G>CCA388018883ATP7Bc.*2000C>G (n.*2000C>G)
c.*3094C>G (n.*3094C>G)
c.3729C>G (p.Asp1243Glu)
c.4350C>G (p.Asp1450Glu)
c.4017C>G (p.Asp1339Glu)
c.4098C>G (p.Asp1366Glu)
n.1673C>G
c.4116C>G (p.Asp1372Glu)
n.4489C>G
n.1216C>G
c.3285C>G (p.Asp1095Glu)
c.3060C>G (p.Asp1020Glu)
c.4155C>G (p.Asp1385Glu)
c.2128C>G
c.*1451C>G (n.*1451C>G)
n.5094C>G
n.3695C>G
c.4206C>G (p.Asp1402Glu)
c.4254C>G (p.Asp1418Glu)
c.4314C>G (p.Asp1438Glu)
c.3864C>G (p.Asp1288Glu)
c.2166C>G (p.Asp722Glu)
c.1983C>G (p.Asp661Glu)
c.4215C>G (p.Asp1405Glu)
c.4167C>G (p.Asp1389Glu)
c.3936C>G (p.Asp1312Glu)
c.3837C>G (p.Asp1279Glu)
c.3018C>G (p.Asp1006Glu)
n.4569C>G
13g.51934804G=CA2091550210ATP7Bc.*2000C= (n.*2000C=)
c.*3094C= (n.*3094C=)
c.3729C= (p.Asp1243=)
c.4350C= (p.Asp1450=)
c.4017C= (p.Asp1339=)
c.4098C= (p.Asp1366=)
n.1673C=
c.4116C= (p.Asp1372=)
n.4489C=
n.1216C=
c.3285C= (p.Asp1095=)
c.3060C= (p.Asp1020=)
c.4155C= (p.Asp1385=)
c.2128C=
c.*1451C= (n.*1451C=)
n.5094C=
n.3695C=
c.4206C= (p.Asp1402=)
c.4254C= (p.Asp1418=)
c.4314C= (p.Asp1438=)
c.3864C= (p.Asp1288=)
c.2166C= (p.Asp722=)
c.1983C= (p.Asp661=)
c.4215C= (p.Asp1405=)
c.4167C= (p.Asp1389=)
c.3936C= (p.Asp1312=)
c.3837C= (p.Asp1279=)
c.3018C= (p.Asp1006=)
n.4569C=
13g.51934804G>TCA388018882ATP7Bc.*2000C>A (n.*2000C>A)
c.*3094C>A (n.*3094C>A)
c.3729C>A (p.Asp1243Glu)
c.4350C>A (p.Asp1450Glu)
c.4017C>A (p.Asp1339Glu)
c.4098C>A (p.Asp1366Glu)
n.1673C>A
c.4116C>A (p.Asp1372Glu)
n.4489C>A
n.1216C>A
c.3285C>A (p.Asp1095Glu)
c.3060C>A (p.Asp1020Glu)
c.4155C>A (p.Asp1385Glu)
c.2128C>A
c.*1451C>A (n.*1451C>A)
n.5094C>A
n.3695C>A
c.4206C>A (p.Asp1402Glu)
c.4254C>A (p.Asp1418Glu)
c.4314C>A (p.Asp1438Glu)
c.3864C>A (p.Asp1288Glu)
c.2166C>A (p.Asp722Glu)
c.1983C>A (p.Asp661Glu)
c.4215C>A (p.Asp1405Glu)
c.4167C>A (p.Asp1389Glu)
c.3936C>A (p.Asp1312Glu)
c.3837C>A (p.Asp1279Glu)
c.3018C>A (p.Asp1006Glu)
n.4569C>A
13g.51934805T>ACA6988413ATP7Bc.*1999A>T (n.*1999A>T)
c.*3093A>T (n.*3093A>T)
c.3728A>T (p.Asp1243Val)
c.4349A>T (p.Asp1450Val)
c.4016A>T (p.Asp1339Val)
c.4097A>T (p.Asp1366Val)
n.1672A>T
c.4115A>T (p.Asp1372Val)
n.4488A>T
n.1215A>T
c.3284A>T (p.Asp1095Val)
c.3059A>T (p.Asp1020Val)
c.4154A>T (p.Asp1385Val)
c.2127A>T
c.*1450A>T (n.*1450A>T)
n.5093A>T
n.3694A>T
c.4205A>T (p.Asp1402Val)
c.4253A>T (p.Asp1418Val)
c.4313A>T (p.Asp1438Val)
c.3863A>T (p.Asp1288Val)
c.2165A>T (p.Asp722Val)
c.1982A>T (p.Asp661Val)
c.4214A>T (p.Asp1405Val)
c.4166A>T (p.Asp1389Val)
c.3935A>T (p.Asp1312Val)
c.3836A>T (p.Asp1279Val)
c.3017A>T (p.Asp1006Val)
n.4568A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934805T>CCA388018887ATP7Bc.*1999A>G (n.*1999A>G)
c.*3093A>G (n.*3093A>G)
c.3728A>G (p.Asp1243Gly)
c.4349A>G (p.Asp1450Gly)
c.4016A>G (p.Asp1339Gly)
c.4097A>G (p.Asp1366Gly)
n.1672A>G
c.4115A>G (p.Asp1372Gly)
n.4488A>G
n.1215A>G
c.3284A>G (p.Asp1095Gly)
c.3059A>G (p.Asp1020Gly)
c.4154A>G (p.Asp1385Gly)
c.2127A>G
c.*1450A>G (n.*1450A>G)
n.5093A>G
n.3694A>G
c.4205A>G (p.Asp1402Gly)
c.4253A>G (p.Asp1418Gly)
c.4313A>G (p.Asp1438Gly)
c.3863A>G (p.Asp1288Gly)
c.2165A>G (p.Asp722Gly)
c.1982A>G (p.Asp661Gly)
c.4214A>G (p.Asp1405Gly)
c.4166A>G (p.Asp1389Gly)
c.3935A>G (p.Asp1312Gly)
c.3836A>G (p.Asp1279Gly)
c.3017A>G (p.Asp1006Gly)
n.4568A>G
13g.51934805T>GCA388018895ATP7Bc.*1999A>C (n.*1999A>C)
c.*3093A>C (n.*3093A>C)
c.3728A>C (p.Asp1243Ala)
c.4349A>C (p.Asp1450Ala)
c.4016A>C (p.Asp1339Ala)
c.4097A>C (p.Asp1366Ala)
n.1672A>C
c.4115A>C (p.Asp1372Ala)
n.4488A>C
n.1215A>C
c.3284A>C (p.Asp1095Ala)
c.3059A>C (p.Asp1020Ala)
c.4154A>C (p.Asp1385Ala)
c.2127A>C
c.*1450A>C (n.*1450A>C)
n.5093A>C
n.3694A>C
c.4205A>C (p.Asp1402Ala)
c.4253A>C (p.Asp1418Ala)
c.4313A>C (p.Asp1438Ala)
c.3863A>C (p.Asp1288Ala)
c.2165A>C (p.Asp722Ala)
c.1982A>C (p.Asp661Ala)
c.4214A>C (p.Asp1405Ala)
c.4166A>C (p.Asp1389Ala)
c.3935A>C (p.Asp1312Ala)
c.3836A>C (p.Asp1279Ala)
c.3017A>C (p.Asp1006Ala)
n.4568A>C
13g.51934805T=CA2091550212ATP7Bc.*1999A= (n.*1999A=)
c.*3093A= (n.*3093A=)
c.3728A= (p.Asp1243=)
c.4349A= (p.Asp1450=)
c.4016A= (p.Asp1339=)
c.4097A= (p.Asp1366=)
n.1672A=
c.4115A= (p.Asp1372=)
n.4488A=
n.1215A=
c.3284A= (p.Asp1095=)
c.3059A= (p.Asp1020=)
c.4154A= (p.Asp1385=)
c.2127A=
c.*1450A= (n.*1450A=)
n.5093A=
n.3694A=
c.4205A= (p.Asp1402=)
c.4253A= (p.Asp1418=)
c.4313A= (p.Asp1438=)
c.3863A= (p.Asp1288=)
c.2165A= (p.Asp722=)
c.1982A= (p.Asp661=)
c.4214A= (p.Asp1405=)
c.4166A= (p.Asp1389=)
c.3935A= (p.Asp1312=)
c.3836A= (p.Asp1279=)
c.3017A= (p.Asp1006=)
n.4568A=
13g.51934806C>ACA388018898ATP7Bc.*1998G>T (n.*1998G>T)
c.*3092G>T (n.*3092G>T)
c.3727G>T (p.Asp1243Tyr)
c.4348G>T (p.Asp1450Tyr)
c.4015G>T (p.Asp1339Tyr)
c.4096G>T (p.Asp1366Tyr)
n.1671G>T
c.4114G>T (p.Asp1372Tyr)
n.4487G>T
n.1214G>T
c.3283G>T (p.Asp1095Tyr)
c.3058G>T (p.Asp1020Tyr)
c.4153G>T (p.Asp1385Tyr)
c.2126G>T
c.*1449G>T (n.*1449G>T)
n.5092G>T
n.3693G>T
c.4204G>T (p.Asp1402Tyr)
c.4252G>T (p.Asp1418Tyr)
c.4312G>T (p.Asp1438Tyr)
c.3862G>T (p.Asp1288Tyr)
c.2164G>T (p.Asp722Tyr)
c.1981G>T (p.Asp661Tyr)
c.4213G>T (p.Asp1405Tyr)
c.4165G>T (p.Asp1389Tyr)
c.3934G>T (p.Asp1312Tyr)
c.3835G>T (p.Asp1279Tyr)
c.3016G>T (p.Asp1006Tyr)
n.4567G>T
 dbSNP gnomAD v2 gnomAD v4
13g.51934806C=CA2091550213ATP7Bc.*1998G= (n.*1998G=)
c.*3092G= (n.*3092G=)
c.3727G= (p.Asp1243=)
c.4348G= (p.Asp1450=)
c.4015G= (p.Asp1339=)
c.4096G= (p.Asp1366=)
n.1671G=
c.4114G= (p.Asp1372=)
n.4487G=
n.1214G=
c.3283G= (p.Asp1095=)
c.3058G= (p.Asp1020=)
c.4153G= (p.Asp1385=)
c.2126G=
c.*1449G= (n.*1449G=)
n.5092G=
n.3693G=
c.4204G= (p.Asp1402=)
c.4252G= (p.Asp1418=)
c.4312G= (p.Asp1438=)
c.3862G= (p.Asp1288=)
c.2164G= (p.Asp722=)
c.1981G= (p.Asp661=)
c.4213G= (p.Asp1405=)
c.4165G= (p.Asp1389=)
c.3934G= (p.Asp1312=)
c.3835G= (p.Asp1279=)
c.3016G= (p.Asp1006=)
n.4567G=
13g.51934806C>GCA388018907ATP7Bc.*1998G>C (n.*1998G>C)
c.*3092G>C (n.*3092G>C)
c.3727G>C (p.Asp1243His)
c.4348G>C (p.Asp1450His)
c.4015G>C (p.Asp1339His)
c.4096G>C (p.Asp1366His)
n.1671G>C
c.4114G>C (p.Asp1372His)
n.4487G>C
n.1214G>C
c.3283G>C (p.Asp1095His)
c.3058G>C (p.Asp1020His)
c.4153G>C (p.Asp1385His)
c.2126G>C
c.*1449G>C (n.*1449G>C)
n.5092G>C
n.3693G>C
c.4204G>C (p.Asp1402His)
c.4252G>C (p.Asp1418His)
c.4312G>C (p.Asp1438His)
c.3862G>C (p.Asp1288His)
c.2164G>C (p.Asp722His)
c.1981G>C (p.Asp661His)
c.4213G>C (p.Asp1405His)
c.4165G>C (p.Asp1389His)
c.3934G>C (p.Asp1312His)
c.3835G>C (p.Asp1279His)
c.3016G>C (p.Asp1006His)
n.4567G>C
13g.51934806C>TCA388018909ATP7Bc.*1998G>A (n.*1998G>A)
c.*3092G>A (n.*3092G>A)
c.3727G>A (p.Asp1243Asn)
c.4348G>A (p.Asp1450Asn)
c.4015G>A (p.Asp1339Asn)
c.4096G>A (p.Asp1366Asn)
n.1671G>A
c.4114G>A (p.Asp1372Asn)
n.4487G>A
n.1214G>A
c.3283G>A (p.Asp1095Asn)
c.3058G>A (p.Asp1020Asn)
c.4153G>A (p.Asp1385Asn)
c.2126G>A
c.*1449G>A (n.*1449G>A)
n.5092G>A
n.3693G>A
c.4204G>A (p.Asp1402Asn)
c.4252G>A (p.Asp1418Asn)
c.4312G>A (p.Asp1438Asn)
c.3862G>A (p.Asp1288Asn)
c.2164G>A (p.Asp722Asn)
c.1981G>A (p.Asp661Asn)
c.4213G>A (p.Asp1405Asn)
c.4165G>A (p.Asp1389Asn)
c.3934G>A (p.Asp1312Asn)
c.3835G>A (p.Asp1279Asn)
c.3016G>A (p.Asp1006Asn)
n.4567G>A
 ClinVar dbSNP gnomAD v4
13g.51934807C>ACA484024068ATP7Bc.*1997G>T (n.*1997G>T)
c.*3091G>T (n.*3091G>T)
c.3726G>T (p.Gly1242=)
c.4347G>T (p.Gly1449=)
c.4014G>T (p.Gly1338=)
c.4095G>T (p.Gly1365=)
n.1670G>T
c.4113G>T (p.Gly1371=)
n.4486G>T
n.1213G>T
c.3282G>T (p.Gly1094=)
c.3057G>T (p.Gly1019=)
c.4152G>T (p.Gly1384=)
c.2125G>T
c.*1448G>T (n.*1448G>T)
n.5091G>T
n.3692G>T
c.4203G>T (p.Gly1401=)
c.4251G>T (p.Gly1417=)
c.4311G>T (p.Gly1437=)
c.3861G>T (p.Gly1287=)
c.2163G>T (p.Gly721=)
c.1980G>T (p.Gly660=)
c.4212G>T (p.Gly1404=)
c.4164G>T (p.Gly1388=)
c.3933G>T (p.Gly1311=)
c.3834G>T (p.Gly1278=)
c.3015G>T (p.Gly1005=)
n.4566G>T
13g.51934807C>GCA484024066ATP7Bc.*1997G>C (n.*1997G>C)
c.*3091G>C (n.*3091G>C)
c.3726G>C (p.Gly1242=)
c.4347G>C (p.Gly1449=)
c.4014G>C (p.Gly1338=)
c.4095G>C (p.Gly1365=)
n.1670G>C
c.4113G>C (p.Gly1371=)
n.4486G>C
n.1213G>C
c.3282G>C (p.Gly1094=)
c.3057G>C (p.Gly1019=)
c.4152G>C (p.Gly1384=)
c.2125G>C
c.*1448G>C (n.*1448G>C)
n.5091G>C
n.3692G>C
c.4203G>C (p.Gly1401=)
c.4251G>C (p.Gly1417=)
c.4311G>C (p.Gly1437=)
c.3861G>C (p.Gly1287=)
c.2163G>C (p.Gly721=)
c.1980G>C (p.Gly660=)
c.4212G>C (p.Gly1404=)
c.4164G>C (p.Gly1388=)
c.3933G>C (p.Gly1311=)
c.3834G>C (p.Gly1278=)
c.3015G>C (p.Gly1005=)
n.4566G>C
13g.51934807C>TCA484024067ATP7Bc.*1997G>A (n.*1997G>A)
c.*3091G>A (n.*3091G>A)
c.3726G>A (p.Gly1242=)
c.4347G>A (p.Gly1449=)
c.4014G>A (p.Gly1338=)
c.4095G>A (p.Gly1365=)
n.1670G>A
c.4113G>A (p.Gly1371=)
n.4486G>A
n.1213G>A
c.3282G>A (p.Gly1094=)
c.3057G>A (p.Gly1019=)
c.4152G>A (p.Gly1384=)
c.2125G>A
c.*1448G>A (n.*1448G>A)
n.5091G>A
n.3692G>A
c.4203G>A (p.Gly1401=)
c.4251G>A (p.Gly1417=)
c.4311G>A (p.Gly1437=)
c.3861G>A (p.Gly1287=)
c.2163G>A (p.Gly721=)
c.1980G>A (p.Gly660=)
c.4212G>A (p.Gly1404=)
c.4164G>A (p.Gly1388=)
c.3933G>A (p.Gly1311=)
c.3834G>A (p.Gly1278=)
c.3015G>A (p.Gly1005=)
n.4566G>A
 ClinVar gnomAD v4
13g.51934808C>ACA388018913ATP7Bc.*1996G>T (n.*1996G>T)
c.*3090G>T (n.*3090G>T)
c.3725G>T (p.Gly1242Val)
c.4346G>T (p.Gly1449Val)
c.4013G>T (p.Gly1338Val)
c.4094G>T (p.Gly1365Val)
n.1669G>T
c.4112G>T (p.Gly1371Val)
n.4485G>T
n.1212G>T
c.3281G>T (p.Gly1094Val)
c.3056G>T (p.Gly1019Val)
c.4151G>T (p.Gly1384Val)
c.2124G>T
c.*1447G>T (n.*1447G>T)
n.5090G>T
n.3691G>T
c.4202G>T (p.Gly1401Val)
c.4250G>T (p.Gly1417Val)
c.4310G>T (p.Gly1437Val)
c.3860G>T (p.Gly1287Val)
c.2162G>T (p.Gly721Val)
c.1979G>T (p.Gly660Val)
c.4211G>T (p.Gly1404Val)
c.4163G>T (p.Gly1388Val)
c.3932G>T (p.Gly1311Val)
c.3833G>T (p.Gly1278Val)
c.3014G>T (p.Gly1005Val)
n.4565G>T
13g.51934808C>GCA388018915ATP7Bc.*1996G>C (n.*1996G>C)
c.*3090G>C (n.*3090G>C)
c.3725G>C (p.Gly1242Ala)
c.4346G>C (p.Gly1449Ala)
c.4013G>C (p.Gly1338Ala)
c.4094G>C (p.Gly1365Ala)
n.1669G>C
c.4112G>C (p.Gly1371Ala)
n.4485G>C
n.1212G>C
c.3281G>C (p.Gly1094Ala)
c.3056G>C (p.Gly1019Ala)
c.4151G>C (p.Gly1384Ala)
c.2124G>C
c.*1447G>C (n.*1447G>C)
n.5090G>C
n.3691G>C
c.4202G>C (p.Gly1401Ala)
c.4250G>C (p.Gly1417Ala)
c.4310G>C (p.Gly1437Ala)
c.3860G>C (p.Gly1287Ala)
c.2162G>C (p.Gly721Ala)
c.1979G>C (p.Gly660Ala)
c.4211G>C (p.Gly1404Ala)
c.4163G>C (p.Gly1388Ala)
c.3932G>C (p.Gly1311Ala)
c.3833G>C (p.Gly1278Ala)
c.3014G>C (p.Gly1005Ala)
n.4565G>C
13g.51934808C>TCA388018919ATP7Bc.*1996G>A (n.*1996G>A)
c.*3090G>A (n.*3090G>A)
c.3725G>A (p.Gly1242Glu)
c.4346G>A (p.Gly1449Glu)
c.4013G>A (p.Gly1338Glu)
c.4094G>A (p.Gly1365Glu)
n.1669G>A
c.4112G>A (p.Gly1371Glu)
n.4485G>A
n.1212G>A
c.3281G>A (p.Gly1094Glu)
c.3056G>A (p.Gly1019Glu)
c.4151G>A (p.Gly1384Glu)
c.2124G>A
c.*1447G>A (n.*1447G>A)
n.5090G>A
n.3691G>A
c.4202G>A (p.Gly1401Glu)
c.4250G>A (p.Gly1417Glu)
c.4310G>A (p.Gly1437Glu)
c.3860G>A (p.Gly1287Glu)
c.2162G>A (p.Gly721Glu)
c.1979G>A (p.Gly660Glu)
c.4211G>A (p.Gly1404Glu)
c.4163G>A (p.Gly1388Glu)
c.3932G>A (p.Gly1311Glu)
c.3833G>A (p.Gly1278Glu)
c.3014G>A (p.Gly1005Glu)
n.4565G>A
 COSMIC
13g.51934809C>ACA388018924ATP7Bc.*1995G>T (n.*1995G>T)
c.*3089G>T (n.*3089G>T)
c.3724G>T (p.Gly1242Trp)
c.4345G>T (p.Gly1449Trp)
c.4012G>T (p.Gly1338Trp)
c.4093G>T (p.Gly1365Trp)
n.1668G>T
c.4111G>T (p.Gly1371Trp)
n.4484G>T
n.1211G>T
c.3280G>T (p.Gly1094Trp)
c.3055G>T (p.Gly1019Trp)
c.4150G>T (p.Gly1384Trp)
c.2123G>T
c.*1446G>T (n.*1446G>T)
n.5089G>T
n.3690G>T
c.4201G>T (p.Gly1401Trp)
c.4249G>T (p.Gly1417Trp)
c.4309G>T (p.Gly1437Trp)
c.3859G>T (p.Gly1287Trp)
c.2161G>T (p.Gly721Trp)
c.1978G>T (p.Gly660Trp)
c.4210G>T (p.Gly1404Trp)
c.4162G>T (p.Gly1388Trp)
c.3931G>T (p.Gly1311Trp)
c.3832G>T (p.Gly1278Trp)
c.3013G>T (p.Gly1005Trp)
n.4564G>T
13g.51934809C>GCA388018926ATP7Bc.*1995G>C (n.*1995G>C)
c.*3089G>C (n.*3089G>C)
c.3724G>C (p.Gly1242Arg)
c.4345G>C (p.Gly1449Arg)
c.4012G>C (p.Gly1338Arg)
c.4093G>C (p.Gly1365Arg)
n.1668G>C
c.4111G>C (p.Gly1371Arg)
n.4484G>C
n.1211G>C
c.3280G>C (p.Gly1094Arg)
c.3055G>C (p.Gly1019Arg)
c.4150G>C (p.Gly1384Arg)
c.2123G>C
c.*1446G>C (n.*1446G>C)
n.5089G>C
n.3690G>C
c.4201G>C (p.Gly1401Arg)
c.4249G>C (p.Gly1417Arg)
c.4309G>C (p.Gly1437Arg)
c.3859G>C (p.Gly1287Arg)
c.2161G>C (p.Gly721Arg)
c.1978G>C (p.Gly660Arg)
c.4210G>C (p.Gly1404Arg)
c.4162G>C (p.Gly1388Arg)
c.3931G>C (p.Gly1311Arg)
c.3832G>C (p.Gly1278Arg)
c.3013G>C (p.Gly1005Arg)
n.4564G>C
13g.51934809C>TCA388018927ATP7Bc.*1995G>A (n.*1995G>A)
c.*3089G>A (n.*3089G>A)
c.3724G>A (p.Gly1242Arg)
c.4345G>A (p.Gly1449Arg)
c.4012G>A (p.Gly1338Arg)
c.4093G>A (p.Gly1365Arg)
n.1668G>A
c.4111G>A (p.Gly1371Arg)
n.4484G>A
n.1211G>A
c.3280G>A (p.Gly1094Arg)
c.3055G>A (p.Gly1019Arg)
c.4150G>A (p.Gly1384Arg)
c.2123G>A
c.*1446G>A (n.*1446G>A)
n.5089G>A
n.3690G>A
c.4201G>A (p.Gly1401Arg)
c.4249G>A (p.Gly1417Arg)
c.4309G>A (p.Gly1437Arg)
c.3859G>A (p.Gly1287Arg)
c.2161G>A (p.Gly721Arg)
c.1978G>A (p.Gly660Arg)
c.4210G>A (p.Gly1404Arg)
c.4162G>A (p.Gly1388Arg)
c.3931G>A (p.Gly1311Arg)
c.3832G>A (p.Gly1278Arg)
c.3013G>A (p.Gly1005Arg)
n.4564G>A
13g.51934813_51934815delCA2623117619ATP7Bc.*1993_*1995del (n.*1993_*1995del)
c.*3087_*3089del (n.*3087_*3089del)
c.3722_3724del (p.Asp1241del)
c.4343_4345del (p.Asp1448del)
c.4010_4012del (p.Asp1337del)
c.4091_4093del (p.Asp1364del)
n.1666_1668del
c.4109_4111del (p.Asp1370del)
n.4482_4484del
n.1209_1211del
c.3278_3280del (p.Asp1093del)
c.3053_3055del (p.Asp1018del)
c.4148_4150del (p.Asp1383del)
c.2121_2123del
c.*1444_*1446del (n.*1444_*1446del)
n.5087_5089del
n.3688_3690del
c.4199_4201del (p.Asp1400del)
c.4247_4249del (p.Asp1416del)
c.4307_4309del (p.Asp1436del)
c.3857_3859del (p.Asp1286del)
c.2159_2161del (p.Asp720del)
c.1976_1978del (p.Asp659del)
c.4208_4210del (p.Asp1403del)
c.4160_4162del (p.Asp1387del)
c.3929_3931del (p.Asp1310del)
c.3830_3832del (p.Asp1277del)
c.3011_3013del (p.Asp1004del)
n.4562_4564del
 gnomAD v4
13g.51934810A>CCA388018928ATP7Bc.*1994T>G (n.*1994T>G)
c.*3088T>G (n.*3088T>G)
c.3723T>G (p.Asp1241Glu)
c.4344T>G (p.Asp1448Glu)
c.4011T>G (p.Asp1337Glu)
c.4092T>G (p.Asp1364Glu)
n.1667T>G
c.4110T>G (p.Asp1370Glu)
n.4483T>G
n.1210T>G
c.3279T>G (p.Asp1093Glu)
c.3054T>G (p.Asp1018Glu)
c.4149T>G (p.Asp1383Glu)
c.2122T>G
c.*1445T>G (n.*1445T>G)
n.5088T>G
n.3689T>G
c.4200T>G (p.Asp1400Glu)
c.4248T>G (p.Asp1416Glu)
c.4308T>G (p.Asp1436Glu)
c.3858T>G (p.Asp1286Glu)
c.2160T>G (p.Asp720Glu)
c.1977T>G (p.Asp659Glu)
c.4209T>G (p.Asp1403Glu)
c.4161T>G (p.Asp1387Glu)
c.3930T>G (p.Asp1310Glu)
c.3831T>G (p.Asp1277Glu)
c.3012T>G (p.Asp1004Glu)
n.4563T>G
13g.51934810A>GCA484024070ATP7Bc.*1994T>C (n.*1994T>C)
c.*3088T>C (n.*3088T>C)
c.3723T>C (p.Asp1241=)
c.4344T>C (p.Asp1448=)
c.4011T>C (p.Asp1337=)
c.4092T>C (p.Asp1364=)
n.1667T>C
c.4110T>C (p.Asp1370=)
n.4483T>C
n.1210T>C
c.3279T>C (p.Asp1093=)
c.3054T>C (p.Asp1018=)
c.4149T>C (p.Asp1383=)
c.2122T>C
c.*1445T>C (n.*1445T>C)
n.5088T>C
n.3689T>C
c.4200T>C (p.Asp1400=)
c.4248T>C (p.Asp1416=)
c.4308T>C (p.Asp1436=)
c.3858T>C (p.Asp1286=)
c.2160T>C (p.Asp720=)
c.1977T>C (p.Asp659=)
c.4209T>C (p.Asp1403=)
c.4161T>C (p.Asp1387=)
c.3930T>C (p.Asp1310=)
c.3831T>C (p.Asp1277=)
c.3012T>C (p.Asp1004=)
n.4563T>C
 ClinVar dbSNP
13g.51934810A>TCA388018929ATP7Bc.*1994T>A (n.*1994T>A)
c.*3088T>A (n.*3088T>A)
c.3723T>A (p.Asp1241Glu)
c.4344T>A (p.Asp1448Glu)
c.4011T>A (p.Asp1337Glu)
c.4092T>A (p.Asp1364Glu)
n.1667T>A
c.4110T>A (p.Asp1370Glu)
n.4483T>A
n.1210T>A
c.3279T>A (p.Asp1093Glu)
c.3054T>A (p.Asp1018Glu)
c.4149T>A (p.Asp1383Glu)
c.2122T>A
c.*1445T>A (n.*1445T>A)
n.5088T>A
n.3689T>A
c.4200T>A (p.Asp1400Glu)
c.4248T>A (p.Asp1416Glu)
c.4308T>A (p.Asp1436Glu)
c.3858T>A (p.Asp1286Glu)
c.2160T>A (p.Asp720Glu)
c.1977T>A (p.Asp659Glu)
c.4209T>A (p.Asp1403Glu)
c.4161T>A (p.Asp1387Glu)
c.3930T>A (p.Asp1310Glu)
c.3831T>A (p.Asp1277Glu)
c.3012T>A (p.Asp1004Glu)
n.4563T>A
13g.51934811T>ACA388018944ATP7Bc.*1993A>T (n.*1993A>T)
c.*3087A>T (n.*3087A>T)
c.3722A>T (p.Asp1241Val)
c.4343A>T (p.Asp1448Val)
c.4010A>T (p.Asp1337Val)
c.4091A>T (p.Asp1364Val)
n.1666A>T
c.4109A>T (p.Asp1370Val)
n.4482A>T
n.1209A>T
c.3278A>T (p.Asp1093Val)
c.3053A>T (p.Asp1018Val)
c.4148A>T (p.Asp1383Val)
c.2121A>T
c.*1444A>T (n.*1444A>T)
n.5087A>T
n.3688A>T
c.4199A>T (p.Asp1400Val)
c.4247A>T (p.Asp1416Val)
c.4307A>T (p.Asp1436Val)
c.3857A>T (p.Asp1286Val)
c.2159A>T (p.Asp720Val)
c.1976A>T (p.Asp659Val)
c.4208A>T (p.Asp1403Val)
c.4160A>T (p.Asp1387Val)
c.3929A>T (p.Asp1310Val)
c.3830A>T (p.Asp1277Val)
c.3011A>T (p.Asp1004Val)
n.4562A>T
 dbSNP gnomAD v2 gnomAD v4
13g.51934811T>CCA388018936ATP7Bc.*1993A>G (n.*1993A>G)
c.*3087A>G (n.*3087A>G)
c.3722A>G (p.Asp1241Gly)
c.4343A>G (p.Asp1448Gly)
c.4010A>G (p.Asp1337Gly)
c.4091A>G (p.Asp1364Gly)
n.1666A>G
c.4109A>G (p.Asp1370Gly)
n.4482A>G
n.1209A>G
c.3278A>G (p.Asp1093Gly)
c.3053A>G (p.Asp1018Gly)
c.4148A>G (p.Asp1383Gly)
c.2121A>G
c.*1444A>G (n.*1444A>G)
n.5087A>G
n.3688A>G
c.4199A>G (p.Asp1400Gly)
c.4247A>G (p.Asp1416Gly)
c.4307A>G (p.Asp1436Gly)
c.3857A>G (p.Asp1286Gly)
c.2159A>G (p.Asp720Gly)
c.1976A>G (p.Asp659Gly)
c.4208A>G (p.Asp1403Gly)
c.4160A>G (p.Asp1387Gly)
c.3929A>G (p.Asp1310Gly)
c.3830A>G (p.Asp1277Gly)
c.3011A>G (p.Asp1004Gly)
n.4562A>G
 dbSNP gnomAD v3 gnomAD v4
13g.51934811T>GCA388018930ATP7Bc.*1993A>C (n.*1993A>C)
c.*3087A>C (n.*3087A>C)
c.3722A>C (p.Asp1241Ala)
c.4343A>C (p.Asp1448Ala)
c.4010A>C (p.Asp1337Ala)
c.4091A>C (p.Asp1364Ala)
n.1666A>C
c.4109A>C (p.Asp1370Ala)
n.4482A>C
n.1209A>C
c.3278A>C (p.Asp1093Ala)
c.3053A>C (p.Asp1018Ala)
c.4148A>C (p.Asp1383Ala)
c.2121A>C
c.*1444A>C (n.*1444A>C)
n.5087A>C
n.3688A>C
c.4199A>C (p.Asp1400Ala)
c.4247A>C (p.Asp1416Ala)
c.4307A>C (p.Asp1436Ala)
c.3857A>C (p.Asp1286Ala)
c.2159A>C (p.Asp720Ala)
c.1976A>C (p.Asp659Ala)
c.4208A>C (p.Asp1403Ala)
c.4160A>C (p.Asp1387Ala)
c.3929A>C (p.Asp1310Ala)
c.3830A>C (p.Asp1277Ala)
c.3011A>C (p.Asp1004Ala)
n.4562A>C
13g.51934811T=CA2091550215ATP7Bc.*1993A= (n.*1993A=)
c.*3087A= (n.*3087A=)
c.3722A= (p.Asp1241=)
c.4343A= (p.Asp1448=)
c.4010A= (p.Asp1337=)
c.4091A= (p.Asp1364=)
n.1666A=
c.4109A= (p.Asp1370=)
n.4482A=
n.1209A=
c.3278A= (p.Asp1093=)
c.3053A= (p.Asp1018=)
c.4148A= (p.Asp1383=)
c.2121A=
c.*1444A= (n.*1444A=)
n.5087A=
n.3688A=
c.4199A= (p.Asp1400=)
c.4247A= (p.Asp1416=)
c.4307A= (p.Asp1436=)
c.3857A= (p.Asp1286=)
c.2159A= (p.Asp720=)
c.1976A= (p.Asp659=)
c.4208A= (p.Asp1403=)
c.4160A= (p.Asp1387=)
c.3929A= (p.Asp1310=)
c.3830A= (p.Asp1277=)
c.3011A= (p.Asp1004=)
n.4562A=
13g.51934812C>ACA250071451ATP7Bc.*1992G>T (n.*1992G>T)
c.*3086G>T (n.*3086G>T)
c.3721G>T (p.Asp1241Tyr)
c.4342G>T (p.Asp1448Tyr)
c.4009G>T (p.Asp1337Tyr)
c.4090G>T (p.Asp1364Tyr)
n.1665G>T
c.4108G>T (p.Asp1370Tyr)
n.4481G>T
n.1208G>T
c.3277G>T (p.Asp1093Tyr)
c.3052G>T (p.Asp1018Tyr)
c.4147G>T (p.Asp1383Tyr)
c.2120G>T
c.*1443G>T (n.*1443G>T)
n.5086G>T
n.3687G>T
c.4198G>T (p.Asp1400Tyr)
c.4246G>T (p.Asp1416Tyr)
c.4306G>T (p.Asp1436Tyr)
c.3856G>T (p.Asp1286Tyr)
c.2158G>T (p.Asp720Tyr)
c.1975G>T (p.Asp659Tyr)
c.4207G>T (p.Asp1403Tyr)
c.4159G>T (p.Asp1387Tyr)
c.3928G>T (p.Asp1310Tyr)
c.3829G>T (p.Asp1277Tyr)
c.3010G>T (p.Asp1004Tyr)
n.4561G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51934812C=CA2091550217ATP7Bc.*1992G= (n.*1992G=)
c.*3086G= (n.*3086G=)
c.3721G= (p.Asp1241=)
c.4342G= (p.Asp1448=)
c.4009G= (p.Asp1337=)
c.4090G= (p.Asp1364=)
n.1665G=
c.4108G= (p.Asp1370=)
n.4481G=
n.1208G=
c.3277G= (p.Asp1093=)
c.3052G= (p.Asp1018=)
c.4147G= (p.Asp1383=)
c.2120G=
c.*1443G= (n.*1443G=)
n.5086G=
n.3687G=
c.4198G= (p.Asp1400=)
c.4246G= (p.Asp1416=)
c.4306G= (p.Asp1436=)
c.3856G= (p.Asp1286=)
c.2158G= (p.Asp720=)
c.1975G= (p.Asp659=)
c.4207G= (p.Asp1403=)
c.4159G= (p.Asp1387=)
c.3928G= (p.Asp1310=)
c.3829G= (p.Asp1277=)
c.3010G= (p.Asp1004=)
n.4561G=
13g.51934812C>GCA388018950ATP7Bc.*1992G>C (n.*1992G>C)
c.*3086G>C (n.*3086G>C)
c.3721G>C (p.Asp1241His)
c.4342G>C (p.Asp1448His)
c.4009G>C (p.Asp1337His)
c.4090G>C (p.Asp1364His)
n.1665G>C
c.4108G>C (p.Asp1370His)
n.4481G>C
n.1208G>C
c.3277G>C (p.Asp1093His)
c.3052G>C (p.Asp1018His)
c.4147G>C (p.Asp1383His)
c.2120G>C
c.*1443G>C (n.*1443G>C)
n.5086G>C
n.3687G>C
c.4198G>C (p.Asp1400His)
c.4246G>C (p.Asp1416His)
c.4306G>C (p.Asp1436His)
c.3856G>C (p.Asp1286His)
c.2158G>C (p.Asp720His)
c.1975G>C (p.Asp659His)
c.4207G>C (p.Asp1403His)
c.4159G>C (p.Asp1387His)
c.3928G>C (p.Asp1310His)
c.3829G>C (p.Asp1277His)
c.3010G>C (p.Asp1004His)
n.4561G>C
 dbSNP
13g.51934812C>TCA388018948ATP7Bc.*1992G>A (n.*1992G>A)
c.*3086G>A (n.*3086G>A)
c.3721G>A (p.Asp1241Asn)
c.4342G>A (p.Asp1448Asn)
c.4009G>A (p.Asp1337Asn)
c.4090G>A (p.Asp1364Asn)
n.1665G>A
c.4108G>A (p.Asp1370Asn)
n.4481G>A
n.1208G>A
c.3277G>A (p.Asp1093Asn)
c.3052G>A (p.Asp1018Asn)
c.4147G>A (p.Asp1383Asn)
c.2120G>A
c.*1443G>A (n.*1443G>A)
n.5086G>A
n.3687G>A
c.4198G>A (p.Asp1400Asn)
c.4246G>A (p.Asp1416Asn)
c.4306G>A (p.Asp1436Asn)
c.3856G>A (p.Asp1286Asn)
c.2158G>A (p.Asp720Asn)
c.1975G>A (p.Asp659Asn)
c.4207G>A (p.Asp1403Asn)
c.4159G>A (p.Asp1387Asn)
c.3928G>A (p.Asp1310Asn)
c.3829G>A (p.Asp1277Asn)
c.3010G>A (p.Asp1004Asn)
n.4561G>A
13g.51934813A>CCA388018958ATP7Bc.*1991T>G (n.*1991T>G)
c.*3085T>G (n.*3085T>G)
c.3720T>G (p.Asp1240Glu)
c.4341T>G (p.Asp1447Glu)
c.4008T>G (p.Asp1336Glu)
c.4089T>G (p.Asp1363Glu)
n.1664T>G
c.4107T>G (p.Asp1369Glu)
n.4480T>G
n.1207T>G
c.3276T>G (p.Asp1092Glu)
c.3051T>G (p.Asp1017Glu)
c.4146T>G (p.Asp1382Glu)
c.2119T>G
c.*1442T>G (n.*1442T>G)
n.5085T>G
n.3686T>G
c.4197T>G (p.Asp1399Glu)
c.4245T>G (p.Asp1415Glu)
c.4305T>G (p.Asp1435Glu)
c.3855T>G (p.Asp1285Glu)
c.2157T>G (p.Asp719Glu)
c.1974T>G (p.Asp658Glu)
c.4206T>G (p.Asp1402Glu)
c.4158T>G (p.Asp1386Glu)
c.3927T>G (p.Asp1309Glu)
c.3828T>G (p.Asp1276Glu)
c.3009T>G (p.Asp1003Glu)
n.4560T>G
13g.51934813A>GCA484024074ATP7Bc.*1991T>C (n.*1991T>C)
c.*3085T>C (n.*3085T>C)
c.3720T>C (p.Asp1240=)
c.4341T>C (p.Asp1447=)
c.4008T>C (p.Asp1336=)
c.4089T>C (p.Asp1363=)
n.1664T>C
c.4107T>C (p.Asp1369=)
n.4480T>C
n.1207T>C
c.3276T>C (p.Asp1092=)
c.3051T>C (p.Asp1017=)
c.4146T>C (p.Asp1382=)
c.2119T>C
c.*1442T>C (n.*1442T>C)
n.5085T>C
n.3686T>C
c.4197T>C (p.Asp1399=)
c.4245T>C (p.Asp1415=)
c.4305T>C (p.Asp1435=)
c.3855T>C (p.Asp1285=)
c.2157T>C (p.Asp719=)
c.1974T>C (p.Asp658=)
c.4206T>C (p.Asp1402=)
c.4158T>C (p.Asp1386=)
c.3927T>C (p.Asp1309=)
c.3828T>C (p.Asp1276=)
c.3009T>C (p.Asp1003=)
n.4560T>C
 gnomAD v4
13g.51934813A>TCA388018961ATP7Bc.*1991T>A (n.*1991T>A)
c.*3085T>A (n.*3085T>A)
c.3720T>A (p.Asp1240Glu)
c.4341T>A (p.Asp1447Glu)
c.4008T>A (p.Asp1336Glu)
c.4089T>A (p.Asp1363Glu)
n.1664T>A
c.4107T>A (p.Asp1369Glu)
n.4480T>A
n.1207T>A
c.3276T>A (p.Asp1092Glu)
c.3051T>A (p.Asp1017Glu)
c.4146T>A (p.Asp1382Glu)
c.2119T>A
c.*1442T>A (n.*1442T>A)
n.5085T>A
n.3686T>A
c.4197T>A (p.Asp1399Glu)
c.4245T>A (p.Asp1415Glu)
c.4305T>A (p.Asp1435Glu)
c.3855T>A (p.Asp1285Glu)
c.2157T>A (p.Asp719Glu)
c.1974T>A (p.Asp658Glu)
c.4206T>A (p.Asp1402Glu)
c.4158T>A (p.Asp1386Glu)
c.3927T>A (p.Asp1309Glu)
c.3828T>A (p.Asp1276Glu)
c.3009T>A (p.Asp1003Glu)
n.4560T>A
13g.51934814T>ACA388018964ATP7Bc.*1990A>T (n.*1990A>T)
c.*3084A>T (n.*3084A>T)
c.3719A>T (p.Asp1240Val)
c.4340A>T (p.Asp1447Val)
c.4007A>T (p.Asp1336Val)
c.4088A>T (p.Asp1363Val)
n.1663A>T
c.4106A>T (p.Asp1369Val)
n.4479A>T
n.1206A>T
c.3275A>T (p.Asp1092Val)
c.3050A>T (p.Asp1017Val)
c.4145A>T (p.Asp1382Val)
c.2118A>T
c.*1441A>T (n.*1441A>T)
n.5084A>T
n.3685A>T
c.4196A>T (p.Asp1399Val)
c.4244A>T (p.Asp1415Val)
c.4304A>T (p.Asp1435Val)
c.3854A>T (p.Asp1285Val)
c.2156A>T (p.Asp719Val)
c.1973A>T (p.Asp658Val)
c.4205A>T (p.Asp1402Val)
c.4157A>T (p.Asp1386Val)
c.3926A>T (p.Asp1309Val)
c.3827A>T (p.Asp1276Val)
c.3008A>T (p.Asp1003Val)
n.4559A>T
13g.51934814T>CCA388018973ATP7Bc.*1990A>G (n.*1990A>G)
c.*3084A>G (n.*3084A>G)
c.3719A>G (p.Asp1240Gly)
c.4340A>G (p.Asp1447Gly)
c.4007A>G (p.Asp1336Gly)
c.4088A>G (p.Asp1363Gly)
n.1663A>G
c.4106A>G (p.Asp1369Gly)
n.4479A>G
n.1206A>G
c.3275A>G (p.Asp1092Gly)
c.3050A>G (p.Asp1017Gly)
c.4145A>G (p.Asp1382Gly)
c.2118A>G
c.*1441A>G (n.*1441A>G)
n.5084A>G
n.3685A>G
c.4196A>G (p.Asp1399Gly)
c.4244A>G (p.Asp1415Gly)
c.4304A>G (p.Asp1435Gly)
c.3854A>G (p.Asp1285Gly)
c.2156A>G (p.Asp719Gly)
c.1973A>G (p.Asp658Gly)
c.4205A>G (p.Asp1402Gly)
c.4157A>G (p.Asp1386Gly)
c.3926A>G (p.Asp1309Gly)
c.3827A>G (p.Asp1276Gly)
c.3008A>G (p.Asp1003Gly)
n.4559A>G
13g.51934814T>GCA388018979ATP7Bc.*1990A>C (n.*1990A>C)
c.*3084A>C (n.*3084A>C)
c.3719A>C (p.Asp1240Ala)
c.4340A>C (p.Asp1447Ala)
c.4007A>C (p.Asp1336Ala)
c.4088A>C (p.Asp1363Ala)
n.1663A>C
c.4106A>C (p.Asp1369Ala)
n.4479A>C
n.1206A>C
c.3275A>C (p.Asp1092Ala)
c.3050A>C (p.Asp1017Ala)
c.4145A>C (p.Asp1382Ala)
c.2118A>C
c.*1441A>C (n.*1441A>C)
n.5084A>C
n.3685A>C
c.4196A>C (p.Asp1399Ala)
c.4244A>C (p.Asp1415Ala)
c.4304A>C (p.Asp1435Ala)
c.3854A>C (p.Asp1285Ala)
c.2156A>C (p.Asp719Ala)
c.1973A>C (p.Asp658Ala)
c.4205A>C (p.Asp1402Ala)
c.4157A>C (p.Asp1386Ala)
c.3926A>C (p.Asp1309Ala)
c.3827A>C (p.Asp1276Ala)
c.3008A>C (p.Asp1003Ala)
n.4559A>C
 gnomAD v4
13g.51934814T=CA2091550218ATP7Bc.*1990A= (n.*1990A=)
c.*3084A= (n.*3084A=)
c.3719A= (p.Asp1240=)
c.4340A= (p.Asp1447=)
c.4007A= (p.Asp1336=)
c.4088A= (p.Asp1363=)
n.1663A=
c.4106A= (p.Asp1369=)
n.4479A=
n.1206A=
c.3275A= (p.Asp1092=)
c.3050A= (p.Asp1017=)
c.4145A= (p.Asp1382=)
c.2118A=
c.*1441A= (n.*1441A=)
n.5084A=
n.3685A=
c.4196A= (p.Asp1399=)
c.4244A= (p.Asp1415=)
c.4304A= (p.Asp1435=)
c.3854A= (p.Asp1285=)
c.2156A= (p.Asp719=)
c.1973A= (p.Asp658=)
c.4205A= (p.Asp1402=)
c.4157A= (p.Asp1386=)
c.3926A= (p.Asp1309=)
c.3827A= (p.Asp1276=)
c.3008A= (p.Asp1003=)
n.4559A=
13g.51934815C>ACA388018987ATP7Bc.*1989G>T (n.*1989G>T)
c.*3083G>T (n.*3083G>T)
c.3718G>T (p.Asp1240Tyr)
c.4339G>T (p.Asp1447Tyr)
c.4006G>T (p.Asp1336Tyr)
c.4087G>T (p.Asp1363Tyr)
n.1662G>T
c.4105G>T (p.Asp1369Tyr)
n.4478G>T
n.1205G>T
c.3274G>T (p.Asp1092Tyr)
c.3049G>T (p.Asp1017Tyr)
c.4144G>T (p.Asp1382Tyr)
c.2117G>T
c.*1440G>T (n.*1440G>T)
n.5083G>T
n.3684G>T
c.4195G>T (p.Asp1399Tyr)
c.4243G>T (p.Asp1415Tyr)
c.4303G>T (p.Asp1435Tyr)
c.3853G>T (p.Asp1285Tyr)
c.2155G>T (p.Asp719Tyr)
c.1972G>T (p.Asp658Tyr)
c.4204G>T (p.Asp1402Tyr)
c.4156G>T (p.Asp1386Tyr)
c.3925G>T (p.Asp1309Tyr)
c.3826G>T (p.Asp1276Tyr)
c.3007G>T (p.Asp1003Tyr)
n.4558G>T
13g.51934815C=CA2091550220ATP7Bc.*1989G= (n.*1989G=)
c.*3083G= (n.*3083G=)
c.3718G= (p.Asp1240=)
c.4339G= (p.Asp1447=)
c.4006G= (p.Asp1336=)
c.4087G= (p.Asp1363=)
n.1662G=
c.4105G= (p.Asp1369=)
n.4478G=
n.1205G=
c.3274G= (p.Asp1092=)
c.3049G= (p.Asp1017=)
c.4144G= (p.Asp1382=)
c.2117G=
c.*1440G= (n.*1440G=)
n.5083G=
n.3684G=
c.4195G= (p.Asp1399=)
c.4243G= (p.Asp1415=)
c.4303G= (p.Asp1435=)
c.3853G= (p.Asp1285=)
c.2155G= (p.Asp719=)
c.1972G= (p.Asp658=)
c.4204G= (p.Asp1402=)
c.4156G= (p.Asp1386=)
c.3925G= (p.Asp1309=)
c.3826G= (p.Asp1276=)
c.3007G= (p.Asp1003=)
n.4558G=
13g.51934815C>GCA388018988ATP7Bc.*1989G>C (n.*1989G>C)
c.*3083G>C (n.*3083G>C)
c.3718G>C (p.Asp1240His)
c.4339G>C (p.Asp1447His)
c.4006G>C (p.Asp1336His)
c.4087G>C (p.Asp1363His)
n.1662G>C
c.4105G>C (p.Asp1369His)
n.4478G>C
n.1205G>C
c.3274G>C (p.Asp1092His)
c.3049G>C (p.Asp1017His)
c.4144G>C (p.Asp1382His)
c.2117G>C
c.*1440G>C (n.*1440G>C)
n.5083G>C
n.3684G>C
c.4195G>C (p.Asp1399His)
c.4243G>C (p.Asp1415His)
c.4303G>C (p.Asp1435His)
c.3853G>C (p.Asp1285His)
c.2155G>C (p.Asp719His)
c.1972G>C (p.Asp658His)
c.4204G>C (p.Asp1402His)
c.4156G>C (p.Asp1386His)
c.3925G>C (p.Asp1309His)
c.3826G>C (p.Asp1276His)
c.3007G>C (p.Asp1003His)
n.4558G>C
13g.51934815C>TCA6988414ATP7Bc.*1989G>A (n.*1989G>A)
c.*3083G>A (n.*3083G>A)
c.3718G>A (p.Asp1240Asn)
c.4339G>A (p.Asp1447Asn)
c.4006G>A (p.Asp1336Asn)
c.4087G>A (p.Asp1363Asn)
n.1662G>A
c.4105G>A (p.Asp1369Asn)
n.4478G>A
n.1205G>A
c.3274G>A (p.Asp1092Asn)
c.3049G>A (p.Asp1017Asn)
c.4144G>A (p.Asp1382Asn)
c.2117G>A
c.*1440G>A (n.*1440G>A)
n.5083G>A
n.3684G>A
c.4195G>A (p.Asp1399Asn)
c.4243G>A (p.Asp1415Asn)
c.4303G>A (p.Asp1435Asn)
c.3853G>A (p.Asp1285Asn)
c.2155G>A (p.Asp719Asn)
c.1972G>A (p.Asp658Asn)
c.4204G>A (p.Asp1402Asn)
c.4156G>A (p.Asp1386Asn)
c.3925G>A (p.Asp1309Asn)
c.3826G>A (p.Asp1276Asn)
c.3007G>A (p.Asp1003Asn)
n.4558G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934815dupCA698888933ATP7Bc.*1989dup (n.*1989dup)
c.*3083dup (n.*3083dup)
c.3718dup (p.Asp1240GlyfsTer2)
c.4339dup (p.Asp1447GlyfsTer2)
c.4006dup (p.Asp1336GlyfsTer2)
c.4087dup (p.Asp1363GlyfsTer2)
n.1662dup
c.4105dup (p.Asp1369GlyfsTer2)
n.4478dup
n.1205dup
c.3274dup (p.Asp1092GlyfsTer2)
c.3049dup (p.Asp1017GlyfsTer2)
c.4144dup (p.Asp1382GlyfsTer2)
c.2117dup
c.*1440dup (n.*1440dup)
n.5083dup
n.3684dup
c.4195dup (p.Asp1399GlyfsTer2)
c.4243dup (p.Asp1415GlyfsTer2)
c.4303dup (p.Asp1435GlyfsTer2)
c.3853dup (p.Asp1285GlyfsTer2)
c.2155dup (p.Asp719GlyfsTer2)
c.1972dup (p.Asp658GlyfsTer2)
c.4204dup (p.Asp1402GlyfsTer2)
c.4156dup (p.Asp1386GlyfsTer2)
c.3925dup (p.Asp1309GlyfsTer2)
c.3826dup (p.Asp1276GlyfsTer2)
c.3007dup (p.Asp1003GlyfsTer2)
n.4558dup
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51934816G>ACA6988415ATP7Bc.*1988C>T (n.*1988C>T)
c.*3082C>T (n.*3082C>T)
c.3717C>T (p.Asp1239=)
c.4338C>T (p.Asp1446=)
c.4005C>T (p.Asp1335=)
c.4086C>T (p.Asp1362=)
n.1661C>T
c.4104C>T (p.Asp1368=)
n.4477C>T
n.1204C>T
c.3273C>T (p.Asp1091=)
c.3048C>T (p.Asp1016=)
c.4143C>T (p.Asp1381=)
c.2116C>T
c.*1439C>T (n.*1439C>T)
n.5082C>T
n.3683C>T
c.4194C>T (p.Asp1398=)
c.4242C>T (p.Asp1414=)
c.4302C>T (p.Asp1434=)
c.3852C>T (p.Asp1284=)
c.2154C>T (p.Asp718=)
c.1971C>T (p.Asp657=)
c.4203C>T (p.Asp1401=)
c.4155C>T (p.Asp1385=)
c.3924C>T (p.Asp1308=)
c.3825C>T (p.Asp1275=)
c.3006C>T (p.Asp1002=)
n.4557C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934816G>CCA388018998ATP7Bc.*1988C>G (n.*1988C>G)
c.*3082C>G (n.*3082C>G)
c.3717C>G (p.Asp1239Glu)
c.4338C>G (p.Asp1446Glu)
c.4005C>G (p.Asp1335Glu)
c.4086C>G (p.Asp1362Glu)
n.1661C>G
c.4104C>G (p.Asp1368Glu)
n.4477C>G
n.1204C>G
c.3273C>G (p.Asp1091Glu)
c.3048C>G (p.Asp1016Glu)
c.4143C>G (p.Asp1381Glu)
c.2116C>G
c.*1439C>G (n.*1439C>G)
n.5082C>G
n.3683C>G
c.4194C>G (p.Asp1398Glu)
c.4242C>G (p.Asp1414Glu)
c.4302C>G (p.Asp1434Glu)
c.3852C>G (p.Asp1284Glu)
c.2154C>G (p.Asp718Glu)
c.1971C>G (p.Asp657Glu)
c.4203C>G (p.Asp1401Glu)
c.4155C>G (p.Asp1385Glu)
c.3924C>G (p.Asp1308Glu)
c.3825C>G (p.Asp1275Glu)
c.3006C>G (p.Asp1002Glu)
n.4557C>G
13g.51934816G=CA2091550221ATP7Bc.*1988C= (n.*1988C=)
c.*3082C= (n.*3082C=)
c.3717C= (p.Asp1239=)
c.4338C= (p.Asp1446=)
c.4005C= (p.Asp1335=)
c.4086C= (p.Asp1362=)
n.1661C=
c.4104C= (p.Asp1368=)
n.4477C=
n.1204C=
c.3273C= (p.Asp1091=)
c.3048C= (p.Asp1016=)
c.4143C= (p.Asp1381=)
c.2116C=
c.*1439C= (n.*1439C=)
n.5082C=
n.3683C=
c.4194C= (p.Asp1398=)
c.4242C= (p.Asp1414=)
c.4302C= (p.Asp1434=)
c.3852C= (p.Asp1284=)
c.2154C= (p.Asp718=)
c.1971C= (p.Asp657=)
c.4203C= (p.Asp1401=)
c.4155C= (p.Asp1385=)
c.3924C= (p.Asp1308=)
c.3825C= (p.Asp1275=)
c.3006C= (p.Asp1002=)
n.4557C=
13g.51934816G>TCA388018999ATP7Bc.*1988C>A (n.*1988C>A)
c.*3082C>A (n.*3082C>A)
c.3717C>A (p.Asp1239Glu)
c.4338C>A (p.Asp1446Glu)
c.4005C>A (p.Asp1335Glu)
c.4086C>A (p.Asp1362Glu)
n.1661C>A
c.4104C>A (p.Asp1368Glu)
n.4477C>A
n.1204C>A
c.3273C>A (p.Asp1091Glu)
c.3048C>A (p.Asp1016Glu)
c.4143C>A (p.Asp1381Glu)
c.2116C>A
c.*1439C>A (n.*1439C>A)
n.5082C>A
n.3683C>A
c.4194C>A (p.Asp1398Glu)
c.4242C>A (p.Asp1414Glu)
c.4302C>A (p.Asp1434Glu)
c.3852C>A (p.Asp1284Glu)
c.2154C>A (p.Asp718Glu)
c.1971C>A (p.Asp657Glu)
c.4203C>A (p.Asp1401Glu)
c.4155C>A (p.Asp1385Glu)
c.3924C>A (p.Asp1308Glu)
c.3825C>A (p.Asp1275Glu)
c.3006C>A (p.Asp1002Glu)
n.4557C>A
13g.51934817T>ACA388019002ATP7Bc.*1987A>T (n.*1987A>T)
c.*3081A>T (n.*3081A>T)
c.3716A>T (p.Asp1239Val)
c.4337A>T (p.Asp1446Val)
c.4004A>T (p.Asp1335Val)
c.4085A>T (p.Asp1362Val)
n.1660A>T
c.4103A>T (p.Asp1368Val)
n.4476A>T
n.1203A>T
c.3272A>T (p.Asp1091Val)
c.3047A>T (p.Asp1016Val)
c.4142A>T (p.Asp1381Val)
c.2115A>T
c.*1438A>T (n.*1438A>T)
n.5081A>T
n.3682A>T
c.4193A>T (p.Asp1398Val)
c.4241A>T (p.Asp1414Val)
c.4301A>T (p.Asp1434Val)
c.3851A>T (p.Asp1284Val)
c.2153A>T (p.Asp718Val)
c.1970A>T (p.Asp657Val)
c.4202A>T (p.Asp1401Val)
c.4154A>T (p.Asp1385Val)
c.3923A>T (p.Asp1308Val)
c.3824A>T (p.Asp1275Val)
c.3005A>T (p.Asp1002Val)
n.4556A>T
13g.51934817T>CCA6988416ATP7Bc.*1987A>G (n.*1987A>G)
c.*3081A>G (n.*3081A>G)
c.3716A>G (p.Asp1239Gly)
c.4337A>G (p.Asp1446Gly)
c.4004A>G (p.Asp1335Gly)
c.4085A>G (p.Asp1362Gly)
n.1660A>G
c.4103A>G (p.Asp1368Gly)
n.4476A>G
n.1203A>G
c.3272A>G (p.Asp1091Gly)
c.3047A>G (p.Asp1016Gly)
c.4142A>G (p.Asp1381Gly)
c.2115A>G
c.*1438A>G (n.*1438A>G)
n.5081A>G
n.3682A>G
c.4193A>G (p.Asp1398Gly)
c.4241A>G (p.Asp1414Gly)
c.4301A>G (p.Asp1434Gly)
c.3851A>G (p.Asp1284Gly)
c.2153A>G (p.Asp718Gly)
c.1970A>G (p.Asp657Gly)
c.4202A>G (p.Asp1401Gly)
c.4154A>G (p.Asp1385Gly)
c.3923A>G (p.Asp1308Gly)
c.3824A>G (p.Asp1275Gly)
c.3005A>G (p.Asp1002Gly)
n.4556A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934817T>GCA388019001ATP7Bc.*1987A>C (n.*1987A>C)
c.*3081A>C (n.*3081A>C)
c.3716A>C (p.Asp1239Ala)
c.4337A>C (p.Asp1446Ala)
c.4004A>C (p.Asp1335Ala)
c.4085A>C (p.Asp1362Ala)
n.1660A>C
c.4103A>C (p.Asp1368Ala)
n.4476A>C
n.1203A>C
c.3272A>C (p.Asp1091Ala)
c.3047A>C (p.Asp1016Ala)
c.4142A>C (p.Asp1381Ala)
c.2115A>C
c.*1438A>C (n.*1438A>C)
n.5081A>C
n.3682A>C
c.4193A>C (p.Asp1398Ala)
c.4241A>C (p.Asp1414Ala)
c.4301A>C (p.Asp1434Ala)
c.3851A>C (p.Asp1284Ala)
c.2153A>C (p.Asp718Ala)
c.1970A>C (p.Asp657Ala)
c.4202A>C (p.Asp1401Ala)
c.4154A>C (p.Asp1385Ala)
c.3923A>C (p.Asp1308Ala)
c.3824A>C (p.Asp1275Ala)
c.3005A>C (p.Asp1002Ala)
n.4556A>C
13g.51934817T=CA2091550222ATP7Bc.*1987A= (n.*1987A=)
c.*3081A= (n.*3081A=)
c.3716A= (p.Asp1239=)
c.4337A= (p.Asp1446=)
c.4004A= (p.Asp1335=)
c.4085A= (p.Asp1362=)
n.1660A=
c.4103A= (p.Asp1368=)
n.4476A=
n.1203A=
c.3272A= (p.Asp1091=)
c.3047A= (p.Asp1016=)
c.4142A= (p.Asp1381=)
c.2115A=
c.*1438A= (n.*1438A=)
n.5081A=
n.3682A=
c.4193A= (p.Asp1398=)
c.4241A= (p.Asp1414=)
c.4301A= (p.Asp1434=)
c.3851A= (p.Asp1284=)
c.2153A= (p.Asp718=)
c.1970A= (p.Asp657=)
c.4202A= (p.Asp1401=)
c.4154A= (p.Asp1385=)
c.3923A= (p.Asp1308=)
c.3824A= (p.Asp1275=)
c.3005A= (p.Asp1002=)
n.4556A=
13g.51934817dupCA912974786ATP7Bc.*1987dup (n.*1987dup)
c.*3081dup (n.*3081dup)
c.3716dup (p.Asp1239GlufsTer3)
c.4337dup (p.Asp1446GlufsTer3)
c.4004dup (p.Asp1335GlufsTer3)
c.4085dup (p.Asp1362GlufsTer3)
n.1660dup
c.4103dup (p.Asp1368GlufsTer3)
n.4476dup
n.1203dup
c.3272dup (p.Asp1091GlufsTer3)
c.3047dup (p.Asp1016GlufsTer3)
c.4142dup (p.Asp1381GlufsTer3)
c.2115dup
c.*1438dup (n.*1438dup)
n.5081dup
n.3682dup
c.4193dup (p.Asp1398GlufsTer3)
c.4241dup (p.Asp1414GlufsTer3)
c.4301dup (p.Asp1434GlufsTer3)
c.3851dup (p.Asp1284GlufsTer3)
c.2153dup (p.Asp718GlufsTer3)
c.1970dup (p.Asp657GlufsTer3)
c.4202dup (p.Asp1401GlufsTer3)
c.4154dup (p.Asp1385GlufsTer3)
c.3923dup (p.Asp1308GlufsTer3)
c.3824dup (p.Asp1275GlufsTer3)
c.3005dup (p.Asp1002GlufsTer3)
n.4556dup

Number of alleles fetched