Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51944234_51944243delinsTGACCCTGGGCA2091564059ATP7Bc.*894-1689_*894-1680delinsCCCAGGGTCA (n.*894-1689_*894-1680delinsCCCAGGGTCA)
c.*1853_*1862delinsCCCAGGGTCA (n.*1853_*1862delinsCCCAGGGTCA)
c.2488_2497delinsCCCAGGGTCA (p.Pro830=)
c.3109_3118delinsCCCAGGGTCA (p.Pro1037=)
c.2776_2785delinsCCCAGGGTCA (p.Pro926=)
c.2857_2866delinsCCCAGGGTCA (p.Pro953=)
c.2875_2884delinsCCCAGGGTCA (p.Pro959=)
n.3248_3257delinsCCCAGGGTCA
n.3472_3481delinsCCCAGGGTCA
c.2044_2053delinsCCCAGGGTCA (p.Pro682=)
c.1819_1828delinsCCCAGGGTCA (p.Pro607=)
c.2914_2923delinsCCCAGGGTCA (p.Pro972=)
n.329_338delinsCCCAGGGTCA
c.1022-1689_1022-1680delinsCCCAGGGTCA
c.*210_*219delinsCCCAGGGTCA (n.*210_*219delinsCCCAGGGTCA)
n.3853_3862delinsCCCAGGGTCA
n.2454_2463delinsCCCAGGGTCA
c.2965_2974delinsCCCAGGGTCA (p.Pro989=)
n.455_464delinsCCCAGGGTCA
c.3013_3022delinsCCCAGGGTCA (p.Pro1005=)
c.3073_3082delinsCCCAGGGTCA (p.Pro1025=)
c.2623_2632delinsCCCAGGGTCA (p.Pro875=)
c.925_934delinsCCCAGGGTCA (p.Pro309=)
c.877-1689_877-1680delinsCCCAGGGTCA (n.877-1689_877-1680delinsCCCAGGGTCA)
c.2974_2983delinsCCCAGGGTCA (p.Pro992=)
c.3061-1689_3061-1680delinsCCCAGGGTCA (n.3061-1689_3061-1680delinsCCCAGGGTCA)
c.2695_2704delinsCCCAGGGTCA (p.Pro899=)
c.2731-1689_2731-1680delinsCCCAGGGTCA (n.2731-1689_2731-1680delinsCCCAGGGTCA)
c.1777_1786delinsCCCAGGGTCA (p.Pro593=)
n.3328_3337delinsCCCAGGGTCA
13g.51944238_51944246delCA610425797ATP7Bc.*894-1689_*894-1681del (n.*894-1689_*894-1681del)
c.*1853_*1861del (n.*1853_*1861del)
c.2488_2496del (p.Pro830_Val832del)
c.3109_3117del (p.Pro1037_Val1039del)
c.2776_2784del (p.Pro926_Val928del)
c.2857_2865del (p.Pro953_Val955del)
c.2875_2883del (p.Pro959_Val961del)
n.3248_3256del
n.3472_3480del
c.2044_2052del (p.Pro682_Val684del)
c.1819_1827del (p.Pro607_Val609del)
c.2914_2922del (p.Pro972_Val974del)
n.329_337del
c.1022-1689_1022-1681del
c.*210_*218del (n.*210_*218del)
n.3853_3861del
n.2454_2462del
c.2965_2973del (p.Pro989_Val991del)
n.455_463del
c.3013_3021del (p.Pro1005_Val1007del)
c.3073_3081del (p.Pro1025_Val1027del)
c.2623_2631del (p.Pro875_Val877del)
c.925_933del (p.Pro309_Val311del)
c.877-1689_877-1681del (n.877-1689_877-1681del)
c.2974_2982del (p.Pro992_Val994del)
c.3061-1689_3061-1681del (n.3061-1689_3061-1681del)
c.2695_2703del (p.Pro899_Val901del)
c.2731-1689_2731-1681del (n.2731-1689_2731-1681del)
c.1777_1785del (p.Pro593_Val595del)
n.3328_3336del
 dbSNP gnomAD v2 gnomAD v4
13g.51944237_51944253delCA2575420443ATP7Bc.*894-1699_*894-1683del (n.*894-1699_*894-1683del)
c.*1843_*1859del (n.*1843_*1859del)
c.2478_2494del (p.Gly828AlafsTer28)
c.3099_3115del (p.Gly1035AlafsTer28)
c.2766_2782del (p.Gly924AlafsTer28)
c.2847_2863del (p.Gly951AlafsTer28)
c.2865_2881del (p.Gly957AlafsTer28)
n.3238_3254del
n.3462_3478del
c.2034_2050del (p.Gly680AlafsTer28)
c.1809_1825del (p.Gly605AlafsTer28)
c.2904_2920del (p.Gly970AlafsTer28)
n.319_335del
c.1022-1699_1022-1683del
c.*200_*216del (n.*200_*216del)
n.3843_3859del
n.2444_2460del
c.2955_2971del (p.Gly987AlafsTer28)
n.445_461del
c.3003_3019del (p.Gly1003AlafsTer28)
c.3063_3079del (p.Gly1023AlafsTer28)
c.2613_2629del (p.Gly873AlafsTer28)
c.915_931del (p.Gly307AlafsTer28)
c.877-1699_877-1683del (n.877-1699_877-1683del)
c.2964_2980del (p.Gly990AlafsTer28)
c.3061-1699_3061-1683del (n.3061-1699_3061-1683del)
c.2685_2701del (p.Gly897AlafsTer28)
c.2731-1699_2731-1683del (n.2731-1699_2731-1683del)
c.1767_1783del (p.Gly591AlafsTer28)
n.3318_3334del
13g.51944244delCA2580087657ATP7Bc.*894-1687del (n.*894-1687del)
c.*1855del (n.*1855del)
c.2490del (p.Arg831GlyfsTer?)
c.3111del (p.Arg1038GlyfsTer?)
c.2778del (p.Arg927GlyfsTer?)
c.2859del (p.Arg954GlyfsTer?)
c.2877del (p.Arg960GlyfsTer?)
n.3250del
n.3474del
c.2046del (p.Arg683GlyfsTer?)
c.1821del (p.Arg608GlyfsTer?)
c.2916del (p.Arg973GlyfsTer?)
n.331del
c.1022-1687del
c.*212del (n.*212del)
n.3855del
n.2456del
c.2967del (p.Arg990GlyfsTer?)
n.457del
c.3015del (p.Arg1006GlyfsTer?)
c.3075del (p.Arg1026GlyfsTer?)
c.2625del (p.Arg876GlyfsTer?)
c.927del (p.Arg310GlyfsTer?)
c.877-1687del (n.877-1687del)
c.2976del (p.Arg993GlyfsTer?)
c.3061-1687del (n.3061-1687del)
c.2697del (p.Arg900GlyfsTer?)
c.2731-1687del (n.2731-1687del)
c.1779del (p.Arg594GlyfsTer?)
n.3330del
 ClinVar
13g.51944242G>ACA388030388ATP7Bc.*894-1688C>T (n.*894-1688C>T)
c.*1854C>T (n.*1854C>T)
c.2489C>T (p.Pro830Leu)
c.3110C>T (p.Pro1037Leu)
c.2777C>T (p.Pro926Leu)
c.2858C>T (p.Pro953Leu)
c.2876C>T (p.Pro959Leu)
n.3249C>T
n.3473C>T
c.2045C>T (p.Pro682Leu)
c.1820C>T (p.Pro607Leu)
c.2915C>T (p.Pro972Leu)
n.330C>T
c.1022-1688C>T
c.*211C>T (n.*211C>T)
n.3854C>T
n.2455C>T
c.2966C>T (p.Pro989Leu)
n.456C>T
c.3014C>T (p.Pro1005Leu)
c.3074C>T (p.Pro1025Leu)
c.2624C>T (p.Pro875Leu)
c.926C>T (p.Pro309Leu)
c.877-1688C>T (n.877-1688C>T)
c.2975C>T (p.Pro992Leu)
c.3061-1688C>T (n.3061-1688C>T)
c.2696C>T (p.Pro899Leu)
c.2731-1688C>T (n.2731-1688C>T)
c.1778C>T (p.Pro593Leu)
n.3329C>T
13g.51944242G>CCA388030389ATP7Bc.*894-1688C>G (n.*894-1688C>G)
c.*1854C>G (n.*1854C>G)
c.2489C>G (p.Pro830Arg)
c.3110C>G (p.Pro1037Arg)
c.2777C>G (p.Pro926Arg)
c.2858C>G (p.Pro953Arg)
c.2876C>G (p.Pro959Arg)
n.3249C>G
n.3473C>G
c.2045C>G (p.Pro682Arg)
c.1820C>G (p.Pro607Arg)
c.2915C>G (p.Pro972Arg)
n.330C>G
c.1022-1688C>G
c.*211C>G (n.*211C>G)
n.3854C>G
n.2455C>G
c.2966C>G (p.Pro989Arg)
n.456C>G
c.3014C>G (p.Pro1005Arg)
c.3074C>G (p.Pro1025Arg)
c.2624C>G (p.Pro875Arg)
c.926C>G (p.Pro309Arg)
c.877-1688C>G (n.877-1688C>G)
c.2975C>G (p.Pro992Arg)
c.3061-1688C>G (n.3061-1688C>G)
c.2696C>G (p.Pro899Arg)
c.2731-1688C>G (n.2731-1688C>G)
c.1778C>G (p.Pro593Arg)
n.3329C>G
 dbSNP gnomAD v2 gnomAD v4
13g.51944242G=CA2091564084ATP7Bc.*894-1688C= (n.*894-1688C=)
c.*1854C= (n.*1854C=)
c.2489C= (p.Pro830=)
c.3110C= (p.Pro1037=)
c.2777C= (p.Pro926=)
c.2858C= (p.Pro953=)
c.2876C= (p.Pro959=)
n.3249C=
n.3473C=
c.2045C= (p.Pro682=)
c.1820C= (p.Pro607=)
c.2915C= (p.Pro972=)
n.330C=
c.1022-1688C=
c.*211C= (n.*211C=)
n.3854C=
n.2455C=
c.2966C= (p.Pro989=)
n.456C=
c.3014C= (p.Pro1005=)
c.3074C= (p.Pro1025=)
c.2624C= (p.Pro875=)
c.926C= (p.Pro309=)
c.877-1688C= (n.877-1688C=)
c.2975C= (p.Pro992=)
c.3061-1688C= (n.3061-1688C=)
c.2696C= (p.Pro899=)
c.2731-1688C= (n.2731-1688C=)
c.1778C= (p.Pro593=)
n.3329C=
13g.51944242G>TCA388030390ATP7Bc.*894-1688C>A (n.*894-1688C>A)
c.*1854C>A (n.*1854C>A)
c.2489C>A (p.Pro830His)
c.3110C>A (p.Pro1037His)
c.2777C>A (p.Pro926His)
c.2858C>A (p.Pro953His)
c.2876C>A (p.Pro959His)
n.3249C>A
n.3473C>A
c.2045C>A (p.Pro682His)
c.1820C>A (p.Pro607His)
c.2915C>A (p.Pro972His)
n.330C>A
c.1022-1688C>A
c.*211C>A (n.*211C>A)
n.3854C>A
n.2455C>A
c.2966C>A (p.Pro989His)
n.456C>A
c.3014C>A (p.Pro1005His)
c.3074C>A (p.Pro1025His)
c.2624C>A (p.Pro875His)
c.926C>A (p.Pro309His)
c.877-1688C>A (n.877-1688C>A)
c.2975C>A (p.Pro992His)
c.3061-1688C>A (n.3061-1688C>A)
c.2696C>A (p.Pro899His)
c.2731-1688C>A (n.2731-1688C>A)
c.1778C>A (p.Pro593His)
n.3329C>A
13g.51944243G>ACA6988806ATP7Bc.*894-1689C>T (n.*894-1689C>T)
c.*1853C>T (n.*1853C>T)
c.2488C>T (p.Pro830Ser)
c.3109C>T (p.Pro1037Ser)
c.2776C>T (p.Pro926Ser)
c.2857C>T (p.Pro953Ser)
c.2875C>T (p.Pro959Ser)
n.3248C>T
n.3472C>T
c.2044C>T (p.Pro682Ser)
c.1819C>T (p.Pro607Ser)
c.2914C>T (p.Pro972Ser)
n.329C>T
c.1022-1689C>T
c.*210C>T (n.*210C>T)
n.3853C>T
n.2454C>T
c.2965C>T (p.Pro989Ser)
n.455C>T
c.3013C>T (p.Pro1005Ser)
c.3073C>T (p.Pro1025Ser)
c.2623C>T (p.Pro875Ser)
c.925C>T (p.Pro309Ser)
c.877-1689C>T (n.877-1689C>T)
c.2974C>T (p.Pro992Ser)
c.3061-1689C>T (n.3061-1689C>T)
c.2695C>T (p.Pro899Ser)
c.2731-1689C>T (n.2731-1689C>T)
c.1777C>T (p.Pro593Ser)
n.3328C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944243G>CCA250080255ATP7Bc.*894-1689C>G (n.*894-1689C>G)
c.*1853C>G (n.*1853C>G)
c.2488C>G (p.Pro830Ala)
c.3109C>G (p.Pro1037Ala)
c.2776C>G (p.Pro926Ala)
c.2857C>G (p.Pro953Ala)
c.2875C>G (p.Pro959Ala)
n.3248C>G
n.3472C>G
c.2044C>G (p.Pro682Ala)
c.1819C>G (p.Pro607Ala)
c.2914C>G (p.Pro972Ala)
n.329C>G
c.1022-1689C>G
c.*210C>G (n.*210C>G)
n.3853C>G
n.2454C>G
c.2965C>G (p.Pro989Ala)
n.455C>G
c.3013C>G (p.Pro1005Ala)
c.3073C>G (p.Pro1025Ala)
c.2623C>G (p.Pro875Ala)
c.925C>G (p.Pro309Ala)
c.877-1689C>G (n.877-1689C>G)
c.2974C>G (p.Pro992Ala)
c.3061-1689C>G (n.3061-1689C>G)
c.2695C>G (p.Pro899Ala)
c.2731-1689C>G (n.2731-1689C>G)
c.1777C>G (p.Pro593Ala)
n.3328C>G
 dbSNP
13g.51944243G=CA2091564088ATP7Bc.*894-1689C= (n.*894-1689C=)
c.*1853C= (n.*1853C=)
c.2488C= (p.Pro830=)
c.3109C= (p.Pro1037=)
c.2776C= (p.Pro926=)
c.2857C= (p.Pro953=)
c.2875C= (p.Pro959=)
n.3248C=
n.3472C=
c.2044C= (p.Pro682=)
c.1819C= (p.Pro607=)
c.2914C= (p.Pro972=)
n.329C=
c.1022-1689C=
c.*210C= (n.*210C=)
n.3853C=
n.2454C=
c.2965C= (p.Pro989=)
n.455C=
c.3013C= (p.Pro1005=)
c.3073C= (p.Pro1025=)
c.2623C= (p.Pro875=)
c.925C= (p.Pro309=)
c.877-1689C= (n.877-1689C=)
c.2974C= (p.Pro992=)
c.3061-1689C= (n.3061-1689C=)
c.2695C= (p.Pro899=)
c.2731-1689C= (n.2731-1689C=)
c.1777C= (p.Pro593=)
n.3328C=
13g.51944243G>TCA388030393ATP7Bc.*894-1689C>A (n.*894-1689C>A)
c.*1853C>A (n.*1853C>A)
c.2488C>A (p.Pro830Thr)
c.3109C>A (p.Pro1037Thr)
c.2776C>A (p.Pro926Thr)
c.2857C>A (p.Pro953Thr)
c.2875C>A (p.Pro959Thr)
n.3248C>A
n.3472C>A
c.2044C>A (p.Pro682Thr)
c.1819C>A (p.Pro607Thr)
c.2914C>A (p.Pro972Thr)
n.329C>A
c.1022-1689C>A
c.*210C>A (n.*210C>A)
n.3853C>A
n.2454C>A
c.2965C>A (p.Pro989Thr)
n.455C>A
c.3013C>A (p.Pro1005Thr)
c.3073C>A (p.Pro1025Thr)
c.2623C>A (p.Pro875Thr)
c.925C>A (p.Pro309Thr)
c.877-1689C>A (n.877-1689C>A)
c.2974C>A (p.Pro992Thr)
c.3061-1689C>A (n.3061-1689C>A)
c.2695C>A (p.Pro899Thr)
c.2731-1689C>A (n.2731-1689C>A)
c.1777C>A (p.Pro593Thr)
n.3328C>A
13g.51944244G>ACA483894744ATP7Bc.*894-1690C>T (n.*894-1690C>T)
c.*1852C>T (n.*1852C>T)
c.2487C>T (p.Val829=)
c.3108C>T (p.Val1036=)
c.2775C>T (p.Val925=)
c.2856C>T (p.Val952=)
c.2874C>T (p.Val958=)
n.3247C>T
n.3471C>T
c.2043C>T (p.Val681=)
c.1818C>T (p.Val606=)
c.2913C>T (p.Val971=)
n.328C>T
c.1022-1690C>T
c.*209C>T (n.*209C>T)
n.3852C>T
n.2453C>T
c.2964C>T (p.Val988=)
n.454C>T
c.3012C>T (p.Val1004=)
c.3072C>T (p.Val1024=)
c.2622C>T (p.Val874=)
c.924C>T (p.Val308=)
c.877-1690C>T (n.877-1690C>T)
c.2973C>T (p.Val991=)
c.3061-1690C>T (n.3061-1690C>T)
c.2694C>T (p.Val898=)
c.2731-1690C>T (n.2731-1690C>T)
c.1776C>T (p.Val592=)
n.3327C>T
13g.51944244G>CCA483894745ATP7Bc.*894-1690C>G (n.*894-1690C>G)
c.*1852C>G (n.*1852C>G)
c.2487C>G (p.Val829=)
c.3108C>G (p.Val1036=)
c.2775C>G (p.Val925=)
c.2856C>G (p.Val952=)
c.2874C>G (p.Val958=)
n.3247C>G
n.3471C>G
c.2043C>G (p.Val681=)
c.1818C>G (p.Val606=)
c.2913C>G (p.Val971=)
n.328C>G
c.1022-1690C>G
c.*209C>G (n.*209C>G)
n.3852C>G
n.2453C>G
c.2964C>G (p.Val988=)
n.454C>G
c.3012C>G (p.Val1004=)
c.3072C>G (p.Val1024=)
c.2622C>G (p.Val874=)
c.924C>G (p.Val308=)
c.877-1690C>G (n.877-1690C>G)
c.2973C>G (p.Val991=)
c.3061-1690C>G (n.3061-1690C>G)
c.2694C>G (p.Val898=)
c.2731-1690C>G (n.2731-1690C>G)
c.1776C>G (p.Val592=)
n.3327C>G
13g.51944244G=CA2091564094ATP7Bc.*894-1690C= (n.*894-1690C=)
c.*1852C= (n.*1852C=)
c.2487C= (p.Val829=)
c.3108C= (p.Val1036=)
c.2775C= (p.Val925=)
c.2856C= (p.Val952=)
c.2874C= (p.Val958=)
n.3247C=
n.3471C=
c.2043C= (p.Val681=)
c.1818C= (p.Val606=)
c.2913C= (p.Val971=)
n.328C=
c.1022-1690C=
c.*209C= (n.*209C=)
n.3852C=
n.2453C=
c.2964C= (p.Val988=)
n.454C=
c.3012C= (p.Val1004=)
c.3072C= (p.Val1024=)
c.2622C= (p.Val874=)
c.924C= (p.Val308=)
c.877-1690C= (n.877-1690C=)
c.2973C= (p.Val991=)
c.3061-1690C= (n.3061-1690C=)
c.2694C= (p.Val898=)
c.2731-1690C= (n.2731-1690C=)
c.1776C= (p.Val592=)
n.3327C=
13g.51944244G>TCA483894746ATP7Bc.*894-1690C>A (n.*894-1690C>A)
c.*1852C>A (n.*1852C>A)
c.2487C>A (p.Val829=)
c.3108C>A (p.Val1036=)
c.2775C>A (p.Val925=)
c.2856C>A (p.Val952=)
c.2874C>A (p.Val958=)
n.3247C>A
n.3471C>A
c.2043C>A (p.Val681=)
c.1818C>A (p.Val606=)
c.2913C>A (p.Val971=)
n.328C>A
c.1022-1690C>A
c.*209C>A (n.*209C>A)
n.3852C>A
n.2453C>A
c.2964C>A (p.Val988=)
n.454C>A
c.3012C>A (p.Val1004=)
c.3072C>A (p.Val1024=)
c.2622C>A (p.Val874=)
c.924C>A (p.Val308=)
c.877-1690C>A (n.877-1690C>A)
c.2973C>A (p.Val991=)
c.3061-1690C>A (n.3061-1690C>A)
c.2694C>A (p.Val898=)
c.2731-1690C>A (n.2731-1690C>A)
c.1776C>A (p.Val592=)
n.3327C>A
 ClinVar dbSNP gnomAD v4
13g.51944245A=CA2091564102ATP7Bc.*894-1691T= (n.*894-1691T=)
c.*1851T= (n.*1851T=)
c.2486T= (p.Val829=)
c.3107T= (p.Val1036=)
c.2774T= (p.Val925=)
c.2855T= (p.Val952=)
c.2873T= (p.Val958=)
n.3246T=
n.3470T=
c.2042T= (p.Val681=)
c.1817T= (p.Val606=)
c.2912T= (p.Val971=)
n.327T=
c.1022-1691T=
c.*208T= (n.*208T=)
n.3851T=
n.2452T=
c.2963T= (p.Val988=)
n.453T=
c.3011T= (p.Val1004=)
c.3071T= (p.Val1024=)
c.2621T= (p.Val874=)
c.923T= (p.Val308=)
c.877-1691T= (n.877-1691T=)
c.2972T= (p.Val991=)
c.3061-1691T= (n.3061-1691T=)
c.2693T= (p.Val898=)
c.2731-1691T= (n.2731-1691T=)
c.1775T= (p.Val592=)
n.3326T=
13g.51944245A>CCA388030404ATP7Bc.*894-1691T>G (n.*894-1691T>G)
c.*1851T>G (n.*1851T>G)
c.2486T>G (p.Val829Gly)
c.3107T>G (p.Val1036Gly)
c.2774T>G (p.Val925Gly)
c.2855T>G (p.Val952Gly)
c.2873T>G (p.Val958Gly)
n.3246T>G
n.3470T>G
c.2042T>G (p.Val681Gly)
c.1817T>G (p.Val606Gly)
c.2912T>G (p.Val971Gly)
n.327T>G
c.1022-1691T>G
c.*208T>G (n.*208T>G)
n.3851T>G
n.2452T>G
c.2963T>G (p.Val988Gly)
n.453T>G
c.3011T>G (p.Val1004Gly)
c.3071T>G (p.Val1024Gly)
c.2621T>G (p.Val874Gly)
c.923T>G (p.Val308Gly)
c.877-1691T>G (n.877-1691T>G)
c.2972T>G (p.Val991Gly)
c.3061-1691T>G (n.3061-1691T>G)
c.2693T>G (p.Val898Gly)
c.2731-1691T>G (n.2731-1691T>G)
c.1775T>G (p.Val592Gly)
n.3326T>G
13g.51944245A>GCA388030406ATP7Bc.*894-1691T>C (n.*894-1691T>C)
c.*1851T>C (n.*1851T>C)
c.2486T>C (p.Val829Ala)
c.3107T>C (p.Val1036Ala)
c.2774T>C (p.Val925Ala)
c.2855T>C (p.Val952Ala)
c.2873T>C (p.Val958Ala)
n.3246T>C
n.3470T>C
c.2042T>C (p.Val681Ala)
c.1817T>C (p.Val606Ala)
c.2912T>C (p.Val971Ala)
n.327T>C
c.1022-1691T>C
c.*208T>C (n.*208T>C)
n.3851T>C
n.2452T>C
c.2963T>C (p.Val988Ala)
n.453T>C
c.3011T>C (p.Val1004Ala)
c.3071T>C (p.Val1024Ala)
c.2621T>C (p.Val874Ala)
c.923T>C (p.Val308Ala)
c.877-1691T>C (n.877-1691T>C)
c.2972T>C (p.Val991Ala)
c.3061-1691T>C (n.3061-1691T>C)
c.2693T>C (p.Val898Ala)
c.2731-1691T>C (n.2731-1691T>C)
c.1775T>C (p.Val592Ala)
n.3326T>C
13g.51944245A>TCA388030408ATP7Bc.*894-1691T>A (n.*894-1691T>A)
c.*1851T>A (n.*1851T>A)
c.2486T>A (p.Val829Asp)
c.3107T>A (p.Val1036Asp)
c.2774T>A (p.Val925Asp)
c.2855T>A (p.Val952Asp)
c.2873T>A (p.Val958Asp)
n.3246T>A
n.3470T>A
c.2042T>A (p.Val681Asp)
c.1817T>A (p.Val606Asp)
c.2912T>A (p.Val971Asp)
n.327T>A
c.1022-1691T>A
c.*208T>A (n.*208T>A)
n.3851T>A
n.2452T>A
c.2963T>A (p.Val988Asp)
n.453T>A
c.3011T>A (p.Val1004Asp)
c.3071T>A (p.Val1024Asp)
c.2621T>A (p.Val874Asp)
c.923T>A (p.Val308Asp)
c.877-1691T>A (n.877-1691T>A)
c.2972T>A (p.Val991Asp)
c.3061-1691T>A (n.3061-1691T>A)
c.2693T>A (p.Val898Asp)
c.2731-1691T>A (n.2731-1691T>A)
c.1775T>A (p.Val592Asp)
n.3326T>A
 dbSNP gnomAD v2 gnomAD v4
13g.51944245dupCA10605504ATP7Bc.*894-1691dup (n.*894-1691dup)
c.*1851dup (n.*1851dup)
c.2486dup (p.Arg831GlnfsTer?)
c.3107dup (p.Arg1038GlnfsTer?)
c.2774dup (p.Arg927GlnfsTer?)
c.2855dup (p.Arg954GlnfsTer?)
c.2873dup (p.Arg960GlnfsTer?)
n.3246dup
n.3470dup
c.2042dup (p.Arg683GlnfsTer?)
c.1817dup (p.Arg608GlnfsTer?)
c.2912dup (p.Arg973GlnfsTer?)
n.327dup
c.1022-1691dup
c.*208dup (n.*208dup)
n.3851dup
n.2452dup
c.2963dup (p.Arg990GlnfsTer?)
n.453dup
c.3011dup (p.Arg1006GlnfsTer?)
c.3071dup (p.Arg1026GlnfsTer?)
c.2621dup (p.Arg876GlnfsTer?)
c.923dup (p.Arg310GlnfsTer?)
c.877-1691dup (n.877-1691dup)
c.2972dup (p.Arg993GlnfsTer?)
c.3061-1691dup (n.3061-1691dup)
c.2693dup (p.Arg900GlnfsTer?)
c.2731-1691dup (n.2731-1691dup)
c.1775dup (p.Arg594GlnfsTer?)
n.3326dup
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51944246C>ACA388030411ATP7Bc.*894-1692G>T (n.*894-1692G>T)
c.*1850G>T (n.*1850G>T)
c.2485G>T (p.Val829Phe)
c.3106G>T (p.Val1036Phe)
c.2773G>T (p.Val925Phe)
c.2854G>T (p.Val952Phe)
c.2872G>T (p.Val958Phe)
n.3245G>T
n.3469G>T
c.2041G>T (p.Val681Phe)
c.1816G>T (p.Val606Phe)
c.2911G>T (p.Val971Phe)
n.326G>T
c.1022-1692G>T
c.*207G>T (n.*207G>T)
n.3850G>T
n.2451G>T
c.2962G>T (p.Val988Phe)
n.452G>T
c.3010G>T (p.Val1004Phe)
c.3070G>T (p.Val1024Phe)
c.2620G>T (p.Val874Phe)
c.922G>T (p.Val308Phe)
c.877-1692G>T (n.877-1692G>T)
c.2971G>T (p.Val991Phe)
c.3061-1692G>T (n.3061-1692G>T)
c.2692G>T (p.Val898Phe)
c.2731-1692G>T (n.2731-1692G>T)
c.1774G>T (p.Val592Phe)
n.3325G>T
 ClinVar dbSNP gnomAD v4
13g.51944246C=CA2091564110ATP7Bc.*894-1692G= (n.*894-1692G=)
c.*1850G= (n.*1850G=)
c.2485G= (p.Val829=)
c.3106G= (p.Val1036=)
c.2773G= (p.Val925=)
c.2854G= (p.Val952=)
c.2872G= (p.Val958=)
n.3245G=
n.3469G=
c.2041G= (p.Val681=)
c.1816G= (p.Val606=)
c.2911G= (p.Val971=)
n.326G=
c.1022-1692G=
c.*207G= (n.*207G=)
n.3850G=
n.2451G=
c.2962G= (p.Val988=)
n.452G=
c.3010G= (p.Val1004=)
c.3070G= (p.Val1024=)
c.2620G= (p.Val874=)
c.922G= (p.Val308=)
c.877-1692G= (n.877-1692G=)
c.2971G= (p.Val991=)
c.3061-1692G= (n.3061-1692G=)
c.2692G= (p.Val898=)
c.2731-1692G= (n.2731-1692G=)
c.1774G= (p.Val592=)
n.3325G=
13g.51944246C>GCA388030424ATP7Bc.*894-1692G>C (n.*894-1692G>C)
c.*1850G>C (n.*1850G>C)
c.2485G>C (p.Val829Leu)
c.3106G>C (p.Val1036Leu)
c.2773G>C (p.Val925Leu)
c.2854G>C (p.Val952Leu)
c.2872G>C (p.Val958Leu)
n.3245G>C
n.3469G>C
c.2041G>C (p.Val681Leu)
c.1816G>C (p.Val606Leu)
c.2911G>C (p.Val971Leu)
n.326G>C
c.1022-1692G>C
c.*207G>C (n.*207G>C)
n.3850G>C
n.2451G>C
c.2962G>C (p.Val988Leu)
n.452G>C
c.3010G>C (p.Val1004Leu)
c.3070G>C (p.Val1024Leu)
c.2620G>C (p.Val874Leu)
c.922G>C (p.Val308Leu)
c.877-1692G>C (n.877-1692G>C)
c.2971G>C (p.Val991Leu)
c.3061-1692G>C (n.3061-1692G>C)
c.2692G>C (p.Val898Leu)
c.2731-1692G>C (n.2731-1692G>C)
c.1774G>C (p.Val592Leu)
n.3325G>C
13g.51944246C>TCA6988807ATP7Bc.*894-1692G>A (n.*894-1692G>A)
c.*1850G>A (n.*1850G>A)
c.2485G>A (p.Val829Ile)
c.3106G>A (p.Val1036Ile)
c.2773G>A (p.Val925Ile)
c.2854G>A (p.Val952Ile)
c.2872G>A (p.Val958Ile)
n.3245G>A
n.3469G>A
c.2041G>A (p.Val681Ile)
c.1816G>A (p.Val606Ile)
c.2911G>A (p.Val971Ile)
n.326G>A
c.1022-1692G>A
c.*207G>A (n.*207G>A)
n.3850G>A
n.2451G>A
c.2962G>A (p.Val988Ile)
n.452G>A
c.3010G>A (p.Val1004Ile)
c.3070G>A (p.Val1024Ile)
c.2620G>A (p.Val874Ile)
c.922G>A (p.Val308Ile)
c.877-1692G>A (n.877-1692G>A)
c.2971G>A (p.Val991Ile)
c.3061-1692G>A (n.3061-1692G>A)
c.2692G>A (p.Val898Ile)
c.2731-1692G>A (n.2731-1692G>A)
c.1774G>A (p.Val592Ile)
n.3325G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51944247G>ACA6988808ATP7Bc.*894-1693C>T (n.*894-1693C>T)
c.*1849C>T (n.*1849C>T)
c.2484C>T (p.Gly828=)
c.3105C>T (p.Gly1035=)
c.2772C>T (p.Gly924=)
c.2853C>T (p.Gly951=)
c.2871C>T (p.Gly957=)
n.3244C>T
n.3468C>T
c.2040C>T (p.Gly680=)
c.1815C>T (p.Gly605=)
c.2910C>T (p.Gly970=)
n.325C>T
c.1022-1693C>T
c.*206C>T (n.*206C>T)
n.3849C>T
n.2450C>T
c.2961C>T (p.Gly987=)
n.451C>T
c.3009C>T (p.Gly1003=)
c.3069C>T (p.Gly1023=)
c.2619C>T (p.Gly873=)
c.921C>T (p.Gly307=)
c.877-1693C>T (n.877-1693C>T)
c.2970C>T (p.Gly990=)
c.3061-1693C>T (n.3061-1693C>T)
c.2691C>T (p.Gly897=)
c.2731-1693C>T (n.2731-1693C>T)
c.1773C>T (p.Gly591=)
n.3324C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944247G>CCA483894747ATP7Bc.*894-1693C>G (n.*894-1693C>G)
c.*1849C>G (n.*1849C>G)
c.2484C>G (p.Gly828=)
c.3105C>G (p.Gly1035=)
c.2772C>G (p.Gly924=)
c.2853C>G (p.Gly951=)
c.2871C>G (p.Gly957=)
n.3244C>G
n.3468C>G
c.2040C>G (p.Gly680=)
c.1815C>G (p.Gly605=)
c.2910C>G (p.Gly970=)
n.325C>G
c.1022-1693C>G
c.*206C>G (n.*206C>G)
n.3849C>G
n.2450C>G
c.2961C>G (p.Gly987=)
n.451C>G
c.3009C>G (p.Gly1003=)
c.3069C>G (p.Gly1023=)
c.2619C>G (p.Gly873=)
c.921C>G (p.Gly307=)
c.877-1693C>G (n.877-1693C>G)
c.2970C>G (p.Gly990=)
c.3061-1693C>G (n.3061-1693C>G)
c.2691C>G (p.Gly897=)
c.2731-1693C>G (n.2731-1693C>G)
c.1773C>G (p.Gly591=)
n.3324C>G
13g.51944247G=CA2091564117ATP7Bc.*894-1693C= (n.*894-1693C=)
c.*1849C= (n.*1849C=)
c.2484C= (p.Gly828=)
c.3105C= (p.Gly1035=)
c.2772C= (p.Gly924=)
c.2853C= (p.Gly951=)
c.2871C= (p.Gly957=)
n.3244C=
n.3468C=
c.2040C= (p.Gly680=)
c.1815C= (p.Gly605=)
c.2910C= (p.Gly970=)
n.325C=
c.1022-1693C=
c.*206C= (n.*206C=)
n.3849C=
n.2450C=
c.2961C= (p.Gly987=)
n.451C=
c.3009C= (p.Gly1003=)
c.3069C= (p.Gly1023=)
c.2619C= (p.Gly873=)
c.921C= (p.Gly307=)
c.877-1693C= (n.877-1693C=)
c.2970C= (p.Gly990=)
c.3061-1693C= (n.3061-1693C=)
c.2691C= (p.Gly897=)
c.2731-1693C= (n.2731-1693C=)
c.1773C= (p.Gly591=)
n.3324C=
13g.51944247G>TCA483894748ATP7Bc.*894-1693C>A (n.*894-1693C>A)
c.*1849C>A (n.*1849C>A)
c.2484C>A (p.Gly828=)
c.3105C>A (p.Gly1035=)
c.2772C>A (p.Gly924=)
c.2853C>A (p.Gly951=)
c.2871C>A (p.Gly957=)
n.3244C>A
n.3468C>A
c.2040C>A (p.Gly680=)
c.1815C>A (p.Gly605=)
c.2910C>A (p.Gly970=)
n.325C>A
c.1022-1693C>A
c.*206C>A (n.*206C>A)
n.3849C>A
n.2450C>A
c.2961C>A (p.Gly987=)
n.451C>A
c.3009C>A (p.Gly1003=)
c.3069C>A (p.Gly1023=)
c.2619C>A (p.Gly873=)
c.921C>A (p.Gly307=)
c.877-1693C>A (n.877-1693C>A)
c.2970C>A (p.Gly990=)
c.3061-1693C>A (n.3061-1693C>A)
c.2691C>A (p.Gly897=)
c.2731-1693C>A (n.2731-1693C>A)
c.1773C>A (p.Gly591=)
n.3324C>A
 ClinVar dbSNP gnomAD v4
13g.51944247dupCA2695218749ATP7Bc.*894-1693dup (n.*894-1693dup)
c.*1849dup (n.*1849dup)
c.2484dup (p.Val829ArgfsTer?)
c.3105dup (p.Val1036ArgfsTer?)
c.2772dup (p.Val925ArgfsTer?)
c.2853dup (p.Val952ArgfsTer?)
c.2871dup (p.Val958ArgfsTer?)
n.3244dup
n.3468dup
c.2040dup (p.Val681ArgfsTer?)
c.1815dup (p.Val606ArgfsTer?)
c.2910dup (p.Val971ArgfsTer?)
n.325dup
c.1022-1693dup
c.*206dup (n.*206dup)
n.3849dup
n.2450dup
c.2961dup (p.Val988ArgfsTer?)
n.451dup
c.3009dup (p.Val1004ArgfsTer?)
c.3069dup (p.Val1024ArgfsTer?)
c.2619dup (p.Val874ArgfsTer?)
c.921dup (p.Val308ArgfsTer?)
c.877-1693dup (n.877-1693dup)
c.2970dup (p.Val991ArgfsTer?)
c.3061-1693dup (n.3061-1693dup)
c.2691dup (p.Val898ArgfsTer?)
c.2731-1693dup (n.2731-1693dup)
c.1773dup (p.Val592ArgfsTer?)
n.3324dup
13g.51944248C>ACA16041666ATP7Bc.*894-1694G>T (n.*894-1694G>T)
c.*1848G>T (n.*1848G>T)
c.2483G>T (p.Gly828Val)
c.3104G>T (p.Gly1035Val)
c.2771G>T (p.Gly924Val)
c.2852G>T (p.Gly951Val)
c.2870G>T (p.Gly957Val)
n.3243G>T
n.3467G>T
c.2039G>T (p.Gly680Val)
c.1814G>T (p.Gly605Val)
c.2909G>T (p.Gly970Val)
n.324G>T
c.1022-1694G>T
c.*205G>T (n.*205G>T)
n.3848G>T
n.2449G>T
c.2960G>T (p.Gly987Val)
n.450G>T
c.3008G>T (p.Gly1003Val)
c.3068G>T (p.Gly1023Val)
c.2618G>T (p.Gly873Val)
c.920G>T (p.Gly307Val)
c.877-1694G>T (n.877-1694G>T)
c.2969G>T (p.Gly990Val)
c.3061-1694G>T (n.3061-1694G>T)
c.2690G>T (p.Gly897Val)
c.2731-1694G>T (n.2731-1694G>T)
c.1772G>T (p.Gly591Val)
n.3323G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51944248C=CA2091564126ATP7Bc.*894-1694G= (n.*894-1694G=)
c.*1848G= (n.*1848G=)
c.2483G= (p.Gly828=)
c.3104G= (p.Gly1035=)
c.2771G= (p.Gly924=)
c.2852G= (p.Gly951=)
c.2870G= (p.Gly957=)
n.3243G=
n.3467G=
c.2039G= (p.Gly680=)
c.1814G= (p.Gly605=)
c.2909G= (p.Gly970=)
n.324G=
c.1022-1694G=
c.*205G= (n.*205G=)
n.3848G=
n.2449G=
c.2960G= (p.Gly987=)
n.450G=
c.3008G= (p.Gly1003=)
c.3068G= (p.Gly1023=)
c.2618G= (p.Gly873=)
c.920G= (p.Gly307=)
c.877-1694G= (n.877-1694G=)
c.2969G= (p.Gly990=)
c.3061-1694G= (n.3061-1694G=)
c.2690G= (p.Gly897=)
c.2731-1694G= (n.2731-1694G=)
c.1772G= (p.Gly591=)
n.3323G=
13g.51944248C>GCA388030434ATP7Bc.*894-1694G>C (n.*894-1694G>C)
c.*1848G>C (n.*1848G>C)
c.2483G>C (p.Gly828Ala)
c.3104G>C (p.Gly1035Ala)
c.2771G>C (p.Gly924Ala)
c.2852G>C (p.Gly951Ala)
c.2870G>C (p.Gly957Ala)
n.3243G>C
n.3467G>C
c.2039G>C (p.Gly680Ala)
c.1814G>C (p.Gly605Ala)
c.2909G>C (p.Gly970Ala)
n.324G>C
c.1022-1694G>C
c.*205G>C (n.*205G>C)
n.3848G>C
n.2449G>C
c.2960G>C (p.Gly987Ala)
n.450G>C
c.3008G>C (p.Gly1003Ala)
c.3068G>C (p.Gly1023Ala)
c.2618G>C (p.Gly873Ala)
c.920G>C (p.Gly307Ala)
c.877-1694G>C (n.877-1694G>C)
c.2969G>C (p.Gly990Ala)
c.3061-1694G>C (n.3061-1694G>C)
c.2690G>C (p.Gly897Ala)
c.2731-1694G>C (n.2731-1694G>C)
c.1772G>C (p.Gly591Ala)
n.3323G>C
13g.51944248C>TCA6988809ATP7Bc.*894-1694G>A (n.*894-1694G>A)
c.*1848G>A (n.*1848G>A)
c.2483G>A (p.Gly828Asp)
c.3104G>A (p.Gly1035Asp)
c.2771G>A (p.Gly924Asp)
c.2852G>A (p.Gly951Asp)
c.2870G>A (p.Gly957Asp)
n.3243G>A
n.3467G>A
c.2039G>A (p.Gly680Asp)
c.1814G>A (p.Gly605Asp)
c.2909G>A (p.Gly970Asp)
n.324G>A
c.1022-1694G>A
c.*205G>A (n.*205G>A)
n.3848G>A
n.2449G>A
c.2960G>A (p.Gly987Asp)
n.450G>A
c.3008G>A (p.Gly1003Asp)
c.3068G>A (p.Gly1023Asp)
c.2618G>A (p.Gly873Asp)
c.920G>A (p.Gly307Asp)
c.877-1694G>A (n.877-1694G>A)
c.2969G>A (p.Gly990Asp)
c.3061-1694G>A (n.3061-1694G>A)
c.2690G>A (p.Gly897Asp)
c.2731-1694G>A (n.2731-1694G>A)
c.1772G>A (p.Gly591Asp)
n.3323G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944249C>ACA388030438ATP7Bc.*894-1695G>T (n.*894-1695G>T)
c.*1847G>T (n.*1847G>T)
c.2482G>T (p.Gly828Cys)
c.3103G>T (p.Gly1035Cys)
c.2770G>T (p.Gly924Cys)
c.2851G>T (p.Gly951Cys)
c.2869G>T (p.Gly957Cys)
n.3242G>T
n.3466G>T
c.2038G>T (p.Gly680Cys)
c.1813G>T (p.Gly605Cys)
c.2908G>T (p.Gly970Cys)
n.323G>T
c.1022-1695G>T
c.*204G>T (n.*204G>T)
n.3847G>T
n.2448G>T
c.2959G>T (p.Gly987Cys)
n.449G>T
c.3007G>T (p.Gly1003Cys)
c.3067G>T (p.Gly1023Cys)
c.2617G>T (p.Gly873Cys)
c.919G>T (p.Gly307Cys)
c.877-1695G>T (n.877-1695G>T)
c.2968G>T (p.Gly990Cys)
c.3061-1695G>T (n.3061-1695G>T)
c.2689G>T (p.Gly897Cys)
c.2731-1695G>T (n.2731-1695G>T)
c.1771G>T (p.Gly591Cys)
n.3322G>T
13g.51944249C>GCA388030442ATP7Bc.*894-1695G>C (n.*894-1695G>C)
c.*1847G>C (n.*1847G>C)
c.2482G>C (p.Gly828Arg)
c.3103G>C (p.Gly1035Arg)
c.2770G>C (p.Gly924Arg)
c.2851G>C (p.Gly951Arg)
c.2869G>C (p.Gly957Arg)
n.3242G>C
n.3466G>C
c.2038G>C (p.Gly680Arg)
c.1813G>C (p.Gly605Arg)
c.2908G>C (p.Gly970Arg)
n.323G>C
c.1022-1695G>C
c.*204G>C (n.*204G>C)
n.3847G>C
n.2448G>C
c.2959G>C (p.Gly987Arg)
n.449G>C
c.3007G>C (p.Gly1003Arg)
c.3067G>C (p.Gly1023Arg)
c.2617G>C (p.Gly873Arg)
c.919G>C (p.Gly307Arg)
c.877-1695G>C (n.877-1695G>C)
c.2968G>C (p.Gly990Arg)
c.3061-1695G>C (n.3061-1695G>C)
c.2689G>C (p.Gly897Arg)
c.2731-1695G>C (n.2731-1695G>C)
c.1771G>C (p.Gly591Arg)
n.3322G>C
13g.51944249C>TCA388030443ATP7Bc.*894-1695G>A (n.*894-1695G>A)
c.*1847G>A (n.*1847G>A)
c.2482G>A (p.Gly828Ser)
c.3103G>A (p.Gly1035Ser)
c.2770G>A (p.Gly924Ser)
c.2851G>A (p.Gly951Ser)
c.2869G>A (p.Gly957Ser)
n.3242G>A
n.3466G>A
c.2038G>A (p.Gly680Ser)
c.1813G>A (p.Gly605Ser)
c.2908G>A (p.Gly970Ser)
n.323G>A
c.1022-1695G>A
c.*204G>A (n.*204G>A)
n.3847G>A
n.2448G>A
c.2959G>A (p.Gly987Ser)
n.449G>A
c.3007G>A (p.Gly1003Ser)
c.3067G>A (p.Gly1023Ser)
c.2617G>A (p.Gly873Ser)
c.919G>A (p.Gly307Ser)
c.877-1695G>A (n.877-1695G>A)
c.2968G>A (p.Gly990Ser)
c.3061-1695G>A (n.3061-1695G>A)
c.2689G>A (p.Gly897Ser)
c.2731-1695G>A (n.2731-1695G>A)
c.1771G>A (p.Gly591Ser)
n.3322G>A
13g.51944250A=CA2091564130ATP7Bc.*894-1696T= (n.*894-1696T=)
c.*1846T= (n.*1846T=)
c.2481T= (p.His827=)
c.3102T= (p.His1034=)
c.2769T= (p.His923=)
c.2850T= (p.His950=)
c.2868T= (p.His956=)
n.3241T=
n.3465T=
c.2037T= (p.His679=)
c.1812T= (p.His604=)
c.2907T= (p.His969=)
n.322T=
c.1022-1696T=
c.*203T= (n.*203T=)
n.3846T=
n.2447T=
c.2958T= (p.His986=)
n.448T=
c.3006T= (p.His1002=)
c.3066T= (p.His1022=)
c.2616T= (p.His872=)
c.918T= (p.His306=)
c.877-1696T= (n.877-1696T=)
c.2967T= (p.His989=)
c.3061-1696T= (n.3061-1696T=)
c.2688T= (p.His896=)
c.2731-1696T= (n.2731-1696T=)
c.1770T= (p.His590=)
n.3321T=
13g.51944250A>CCA388030444ATP7Bc.*894-1696T>G (n.*894-1696T>G)
c.*1846T>G (n.*1846T>G)
c.2481T>G (p.His827Gln)
c.3102T>G (p.His1034Gln)
c.2769T>G (p.His923Gln)
c.2850T>G (p.His950Gln)
c.2868T>G (p.His956Gln)
n.3241T>G
n.3465T>G
c.2037T>G (p.His679Gln)
c.1812T>G (p.His604Gln)
c.2907T>G (p.His969Gln)
n.322T>G
c.1022-1696T>G
c.*203T>G (n.*203T>G)
n.3846T>G
n.2447T>G
c.2958T>G (p.His986Gln)
n.448T>G
c.3006T>G (p.His1002Gln)
c.3066T>G (p.His1022Gln)
c.2616T>G (p.His872Gln)
c.918T>G (p.His306Gln)
c.877-1696T>G (n.877-1696T>G)
c.2967T>G (p.His989Gln)
c.3061-1696T>G (n.3061-1696T>G)
c.2688T>G (p.His896Gln)
c.2731-1696T>G (n.2731-1696T>G)
c.1770T>G (p.His590Gln)
n.3321T>G
13g.51944250A>GCA483894749ATP7Bc.*894-1696T>C (n.*894-1696T>C)
c.*1846T>C (n.*1846T>C)
c.2481T>C (p.His827=)
c.3102T>C (p.His1034=)
c.2769T>C (p.His923=)
c.2850T>C (p.His950=)
c.2868T>C (p.His956=)
n.3241T>C
n.3465T>C
c.2037T>C (p.His679=)
c.1812T>C (p.His604=)
c.2907T>C (p.His969=)
n.322T>C
c.1022-1696T>C
c.*203T>C (n.*203T>C)
n.3846T>C
n.2447T>C
c.2958T>C (p.His986=)
n.448T>C
c.3006T>C (p.His1002=)
c.3066T>C (p.His1022=)
c.2616T>C (p.His872=)
c.918T>C (p.His306=)
c.877-1696T>C (n.877-1696T>C)
c.2967T>C (p.His989=)
c.3061-1696T>C (n.3061-1696T>C)
c.2688T>C (p.His896=)
c.2731-1696T>C (n.2731-1696T>C)
c.1770T>C (p.His590=)
n.3321T>C
13g.51944250A>TCA388030445ATP7Bc.*894-1696T>A (n.*894-1696T>A)
c.*1846T>A (n.*1846T>A)
c.2481T>A (p.His827Gln)
c.3102T>A (p.His1034Gln)
c.2769T>A (p.His923Gln)
c.2850T>A (p.His950Gln)
c.2868T>A (p.His956Gln)
n.3241T>A
n.3465T>A
c.2037T>A (p.His679Gln)
c.1812T>A (p.His604Gln)
c.2907T>A (p.His969Gln)
n.322T>A
c.1022-1696T>A
c.*203T>A (n.*203T>A)
n.3846T>A
n.2447T>A
c.2958T>A (p.His986Gln)
n.448T>A
c.3006T>A (p.His1002Gln)
c.3066T>A (p.His1022Gln)
c.2616T>A (p.His872Gln)
c.918T>A (p.His306Gln)
c.877-1696T>A (n.877-1696T>A)
c.2967T>A (p.His989Gln)
c.3061-1696T>A (n.3061-1696T>A)
c.2688T>A (p.His896Gln)
c.2731-1696T>A (n.2731-1696T>A)
c.1770T>A (p.His590Gln)
n.3321T>A
13g.51944251T>ACA388030446ATP7Bc.*894-1697A>T (n.*894-1697A>T)
c.*1845A>T (n.*1845A>T)
c.2480A>T (p.His827Leu)
c.3101A>T (p.His1034Leu)
c.2768A>T (p.His923Leu)
c.2849A>T (p.His950Leu)
c.2867A>T (p.His956Leu)
n.3240A>T
n.3464A>T
c.2036A>T (p.His679Leu)
c.1811A>T (p.His604Leu)
c.2906A>T (p.His969Leu)
n.321A>T
c.1022-1697A>T
c.*202A>T (n.*202A>T)
n.3845A>T
n.2446A>T
c.2957A>T (p.His986Leu)
n.447A>T
c.3005A>T (p.His1002Leu)
c.3065A>T (p.His1022Leu)
c.2615A>T (p.His872Leu)
c.917A>T (p.His306Leu)
c.877-1697A>T (n.877-1697A>T)
c.2966A>T (p.His989Leu)
c.3061-1697A>T (n.3061-1697A>T)
c.2687A>T (p.His896Leu)
c.2731-1697A>T (n.2731-1697A>T)
c.1769A>T (p.His590Leu)
n.3320A>T
13g.51944251T>CCA260138ATP7Bc.*894-1697A>G (n.*894-1697A>G)
c.*1845A>G (n.*1845A>G)
c.2480A>G (p.His827Arg)
c.3101A>G (p.His1034Arg)
c.2768A>G (p.His923Arg)
c.2849A>G (p.His950Arg)
c.2867A>G (p.His956Arg)
n.3240A>G
n.3464A>G
c.2036A>G (p.His679Arg)
c.1811A>G (p.His604Arg)
c.2906A>G (p.His969Arg)
n.321A>G
c.1022-1697A>G
c.*202A>G (n.*202A>G)
n.3845A>G
n.2446A>G
c.2957A>G (p.His986Arg)
n.447A>G
c.3005A>G (p.His1002Arg)
c.3065A>G (p.His1022Arg)
c.2615A>G (p.His872Arg)
c.917A>G (p.His306Arg)
c.877-1697A>G (n.877-1697A>G)
c.2966A>G (p.His989Arg)
c.3061-1697A>G (n.3061-1697A>G)
c.2687A>G (p.His896Arg)
c.2731-1697A>G (n.2731-1697A>G)
c.1769A>G (p.His590Arg)
n.3320A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944251T>GCA388030449ATP7Bc.*894-1697A>C (n.*894-1697A>C)
c.*1845A>C (n.*1845A>C)
c.2480A>C (p.His827Pro)
c.3101A>C (p.His1034Pro)
c.2768A>C (p.His923Pro)
c.2849A>C (p.His950Pro)
c.2867A>C (p.His956Pro)
n.3240A>C
n.3464A>C
c.2036A>C (p.His679Pro)
c.1811A>C (p.His604Pro)
c.2906A>C (p.His969Pro)
n.321A>C
c.1022-1697A>C
c.*202A>C (n.*202A>C)
n.3845A>C
n.2446A>C
c.2957A>C (p.His986Pro)
n.447A>C
c.3005A>C (p.His1002Pro)
c.3065A>C (p.His1022Pro)
c.2615A>C (p.His872Pro)
c.917A>C (p.His306Pro)
c.877-1697A>C (n.877-1697A>C)
c.2966A>C (p.His989Pro)
c.3061-1697A>C (n.3061-1697A>C)
c.2687A>C (p.His896Pro)
c.2731-1697A>C (n.2731-1697A>C)
c.1769A>C (p.His590Pro)
n.3320A>C
13g.51944251T=CA2091564141ATP7Bc.*894-1697A= (n.*894-1697A=)
c.*1845A= (n.*1845A=)
c.2480A= (p.His827=)
c.3101A= (p.His1034=)
c.2768A= (p.His923=)
c.2849A= (p.His950=)
c.2867A= (p.His956=)
n.3240A=
n.3464A=
c.2036A= (p.His679=)
c.1811A= (p.His604=)
c.2906A= (p.His969=)
n.321A=
c.1022-1697A=
c.*202A= (n.*202A=)
n.3845A=
n.2446A=
c.2957A= (p.His986=)
n.447A=
c.3005A= (p.His1002=)
c.3065A= (p.His1022=)
c.2615A= (p.His872=)
c.917A= (p.His306=)
c.877-1697A= (n.877-1697A=)
c.2966A= (p.His989=)
c.3061-1697A= (n.3061-1697A=)
c.2687A= (p.His896=)
c.2731-1697A= (n.2731-1697A=)
c.1769A= (p.His590=)
n.3320A=
13g.51944251dupCA1139663303ATP7Bc.*894-1697dup (n.*894-1697dup)
c.*1845dup (n.*1845dup)
c.2480dup (p.His827GlnfsTer?)
c.3101dup (p.His1034GlnfsTer?)
c.2768dup (p.His923GlnfsTer?)
c.2849dup (p.His950GlnfsTer?)
c.2867dup (p.His956GlnfsTer?)
n.3240dup
n.3464dup
c.2036dup (p.His679GlnfsTer?)
c.1811dup (p.His604GlnfsTer?)
c.2906dup (p.His969GlnfsTer?)
n.321dup
c.1022-1697dup
c.*202dup (n.*202dup)
n.3845dup
n.2446dup
c.2957dup (p.His986GlnfsTer?)
n.447dup
c.3005dup (p.His1002GlnfsTer?)
c.3065dup (p.His1022GlnfsTer?)
c.2615dup (p.His872GlnfsTer?)
c.917dup (p.His306GlnfsTer?)
c.877-1697dup (n.877-1697dup)
c.2966dup (p.His989GlnfsTer?)
c.3061-1697dup (n.3061-1697dup)
c.2687dup (p.His896GlnfsTer?)
c.2731-1697dup (n.2731-1697dup)
c.1769dup (p.His590GlnfsTer?)
n.3320dup
 ClinVar dbSNP
13g.51944252G>ACA388030454ATP7Bc.*894-1698C>T (n.*894-1698C>T)
c.*1844C>T (n.*1844C>T)
c.2479C>T (p.His827Tyr)
c.3100C>T (p.His1034Tyr)
c.2767C>T (p.His923Tyr)
c.2848C>T (p.His950Tyr)
c.2866C>T (p.His956Tyr)
n.3239C>T
n.3463C>T
c.2035C>T (p.His679Tyr)
c.1810C>T (p.His604Tyr)
c.2905C>T (p.His969Tyr)
n.320C>T
c.1022-1698C>T
c.*201C>T (n.*201C>T)
n.3844C>T
n.2445C>T
c.2956C>T (p.His986Tyr)
n.446C>T
c.3004C>T (p.His1002Tyr)
c.3064C>T (p.His1022Tyr)
c.2614C>T (p.His872Tyr)
c.916C>T (p.His306Tyr)
c.877-1698C>T (n.877-1698C>T)
c.2965C>T (p.His989Tyr)
c.3061-1698C>T (n.3061-1698C>T)
c.2686C>T (p.His896Tyr)
c.2731-1698C>T (n.2731-1698C>T)
c.1768C>T (p.His590Tyr)
n.3319C>T
13g.51944252G>CCA388030457ATP7Bc.*894-1698C>G (n.*894-1698C>G)
c.*1844C>G (n.*1844C>G)
c.2479C>G (p.His827Asp)
c.3100C>G (p.His1034Asp)
c.2767C>G (p.His923Asp)
c.2848C>G (p.His950Asp)
c.2866C>G (p.His956Asp)
n.3239C>G
n.3463C>G
c.2035C>G (p.His679Asp)
c.1810C>G (p.His604Asp)
c.2905C>G (p.His969Asp)
n.320C>G
c.1022-1698C>G
c.*201C>G (n.*201C>G)
n.3844C>G
n.2445C>G
c.2956C>G (p.His986Asp)
n.446C>G
c.3004C>G (p.His1002Asp)
c.3064C>G (p.His1022Asp)
c.2614C>G (p.His872Asp)
c.916C>G (p.His306Asp)
c.877-1698C>G (n.877-1698C>G)
c.2965C>G (p.His989Asp)
c.3061-1698C>G (n.3061-1698C>G)
c.2686C>G (p.His896Asp)
c.2731-1698C>G (n.2731-1698C>G)
c.1768C>G (p.His590Asp)
n.3319C>G
 gnomAD v4
13g.51944252G=CA2091564149ATP7Bc.*894-1698C= (n.*894-1698C=)
c.*1844C= (n.*1844C=)
c.2479C= (p.His827=)
c.3100C= (p.His1034=)
c.2767C= (p.His923=)
c.2848C= (p.His950=)
c.2866C= (p.His956=)
n.3239C=
n.3463C=
c.2035C= (p.His679=)
c.1810C= (p.His604=)
c.2905C= (p.His969=)
n.320C=
c.1022-1698C=
c.*201C= (n.*201C=)
n.3844C=
n.2445C=
c.2956C= (p.His986=)
n.446C=
c.3004C= (p.His1002=)
c.3064C= (p.His1022=)
c.2614C= (p.His872=)
c.916C= (p.His306=)
c.877-1698C= (n.877-1698C=)
c.2965C= (p.His989=)
c.3061-1698C= (n.3061-1698C=)
c.2686C= (p.His896=)
c.2731-1698C= (n.2731-1698C=)
c.1768C= (p.His590=)
n.3319C=
13g.51944252G>TCA388030462ATP7Bc.*894-1698C>A (n.*894-1698C>A)
c.*1844C>A (n.*1844C>A)
c.2479C>A (p.His827Asn)
c.3100C>A (p.His1034Asn)
c.2767C>A (p.His923Asn)
c.2848C>A (p.His950Asn)
c.2866C>A (p.His956Asn)
n.3239C>A
n.3463C>A
c.2035C>A (p.His679Asn)
c.1810C>A (p.His604Asn)
c.2905C>A (p.His969Asn)
n.320C>A
c.1022-1698C>A
c.*201C>A (n.*201C>A)
n.3844C>A
n.2445C>A
c.2956C>A (p.His986Asn)
n.446C>A
c.3004C>A (p.His1002Asn)
c.3064C>A (p.His1022Asn)
c.2614C>A (p.His872Asn)
c.916C>A (p.His306Asn)
c.877-1698C>A (n.877-1698C>A)
c.2965C>A (p.His989Asn)
c.3061-1698C>A (n.3061-1698C>A)
c.2686C>A (p.His896Asn)
c.2731-1698C>A (n.2731-1698C>A)
c.1768C>A (p.His590Asn)
n.3319C>A

Number of alleles fetched