Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51944231G>ACA6988802ATP7Bc.*894-1677C>T (n.*894-1677C>T)
c.*1865C>T (n.*1865C>T)
c.2500C>T (p.Arg834Trp)
c.3121C>T (p.Arg1041Trp)
c.2788C>T (p.Arg930Trp)
c.2869C>T (p.Arg957Trp)
c.2887C>T (p.Arg963Trp)
n.3260C>T
n.3484C>T
c.2056C>T (p.Arg686Trp)
c.1831C>T (p.Arg611Trp)
c.2926C>T (p.Arg976Trp)
n.341C>T
c.1022-1677C>T
c.*222C>T (n.*222C>T)
n.3865C>T
n.2466C>T
c.2977C>T (p.Arg993Trp)
n.467C>T
c.3025C>T (p.Arg1009Trp)
c.3085C>T (p.Arg1029Trp)
c.2635C>T (p.Arg879Trp)
c.937C>T (p.Arg313Trp)
c.877-1677C>T (n.877-1677C>T)
c.2986C>T (p.Arg996Trp)
c.3061-1677C>T (n.3061-1677C>T)
c.2707C>T (p.Arg903Trp)
c.2731-1677C>T (n.2731-1677C>T)
c.1789C>T (p.Arg597Trp)
n.3340C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944231G>CCA6988803ATP7Bc.*894-1677C>G (n.*894-1677C>G)
c.*1865C>G (n.*1865C>G)
c.2500C>G (p.Arg834Gly)
c.3121C>G (p.Arg1041Gly)
c.2788C>G (p.Arg930Gly)
c.2869C>G (p.Arg957Gly)
c.2887C>G (p.Arg963Gly)
n.3260C>G
n.3484C>G
c.2056C>G (p.Arg686Gly)
c.1831C>G (p.Arg611Gly)
c.2926C>G (p.Arg976Gly)
n.341C>G
c.1022-1677C>G
c.*222C>G (n.*222C>G)
n.3865C>G
n.2466C>G
c.2977C>G (p.Arg993Gly)
n.467C>G
c.3025C>G (p.Arg1009Gly)
c.3085C>G (p.Arg1029Gly)
c.2635C>G (p.Arg879Gly)
c.937C>G (p.Arg313Gly)
c.877-1677C>G (n.877-1677C>G)
c.2986C>G (p.Arg996Gly)
c.3061-1677C>G (n.3061-1677C>G)
c.2707C>G (p.Arg903Gly)
c.2731-1677C>G (n.2731-1677C>G)
c.1789C>G (p.Arg597Gly)
n.3340C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944231G=CA2091564053ATP7Bc.*894-1677C= (n.*894-1677C=)
c.*1865C= (n.*1865C=)
c.2500C= (p.Arg834=)
c.3121C= (p.Arg1041=)
c.2788C= (p.Arg930=)
c.2869C= (p.Arg957=)
c.2887C= (p.Arg963=)
n.3260C=
n.3484C=
c.2056C= (p.Arg686=)
c.1831C= (p.Arg611=)
c.2926C= (p.Arg976=)
n.341C=
c.1022-1677C=
c.*222C= (n.*222C=)
n.3865C=
n.2466C=
c.2977C= (p.Arg993=)
n.467C=
c.3025C= (p.Arg1009=)
c.3085C= (p.Arg1029=)
c.2635C= (p.Arg879=)
c.937C= (p.Arg313=)
c.877-1677C= (n.877-1677C=)
c.2986C= (p.Arg996=)
c.3061-1677C= (n.3061-1677C=)
c.2707C= (p.Arg903=)
c.2731-1677C= (n.2731-1677C=)
c.1789C= (p.Arg597=)
n.3340C=
13g.51944231G>TCA483894736ATP7Bc.*894-1677C>A (n.*894-1677C>A)
c.*1865C>A (n.*1865C>A)
c.2500C>A (p.Arg834=)
c.3121C>A (p.Arg1041=)
c.2788C>A (p.Arg930=)
c.2869C>A (p.Arg957=)
c.2887C>A (p.Arg963=)
n.3260C>A
n.3484C>A
c.2056C>A (p.Arg686=)
c.1831C>A (p.Arg611=)
c.2926C>A (p.Arg976=)
n.341C>A
c.1022-1677C>A
c.*222C>A (n.*222C>A)
n.3865C>A
n.2466C>A
c.2977C>A (p.Arg993=)
n.467C>A
c.3025C>A (p.Arg1009=)
c.3085C>A (p.Arg1029=)
c.2635C>A (p.Arg879=)
c.937C>A (p.Arg313=)
c.877-1677C>A (n.877-1677C>A)
c.2986C>A (p.Arg996=)
c.3061-1677C>A (n.3061-1677C>A)
c.2707C>A (p.Arg903=)
c.2731-1677C>A (n.2731-1677C>A)
c.1789C>A (p.Arg597=)
n.3340C>A
 gnomAD v4
13g.51944232C>ACA388030315ATP7Bc.*894-1678G>T (n.*894-1678G>T)
c.*1864G>T (n.*1864G>T)
c.2499G>T (p.Met833Ile)
c.3120G>T (p.Met1040Ile)
c.2787G>T (p.Met929Ile)
c.2868G>T (p.Met956Ile)
c.2886G>T (p.Met962Ile)
n.3259G>T
n.3483G>T
c.2055G>T (p.Met685Ile)
c.1830G>T (p.Met610Ile)
c.2925G>T (p.Met975Ile)
n.340G>T
c.1022-1678G>T
c.*221G>T (n.*221G>T)
n.3864G>T
n.2465G>T
c.2976G>T (p.Met992Ile)
n.466G>T
c.3024G>T (p.Met1008Ile)
c.3084G>T (p.Met1028Ile)
c.2634G>T (p.Met878Ile)
c.936G>T (p.Met312Ile)
c.877-1678G>T (n.877-1678G>T)
c.2985G>T (p.Met995Ile)
c.3061-1678G>T (n.3061-1678G>T)
c.2706G>T (p.Met902Ile)
c.2731-1678G>T (n.2731-1678G>T)
c.1788G>T (p.Met596Ile)
n.3339G>T
13g.51944232C>GCA388030321ATP7Bc.*894-1678G>C (n.*894-1678G>C)
c.*1864G>C (n.*1864G>C)
c.2499G>C (p.Met833Ile)
c.3120G>C (p.Met1040Ile)
c.2787G>C (p.Met929Ile)
c.2868G>C (p.Met956Ile)
c.2886G>C (p.Met962Ile)
n.3259G>C
n.3483G>C
c.2055G>C (p.Met685Ile)
c.1830G>C (p.Met610Ile)
c.2925G>C (p.Met975Ile)
n.340G>C
c.1022-1678G>C
c.*221G>C (n.*221G>C)
n.3864G>C
n.2465G>C
c.2976G>C (p.Met992Ile)
n.466G>C
c.3024G>C (p.Met1008Ile)
c.3084G>C (p.Met1028Ile)
c.2634G>C (p.Met878Ile)
c.936G>C (p.Met312Ile)
c.877-1678G>C (n.877-1678G>C)
c.2985G>C (p.Met995Ile)
c.3061-1678G>C (n.3061-1678G>C)
c.2706G>C (p.Met902Ile)
c.2731-1678G>C (n.2731-1678G>C)
c.1788G>C (p.Met596Ile)
n.3339G>C
13g.51944232C>TCA388030310ATP7Bc.*894-1678G>A (n.*894-1678G>A)
c.*1864G>A (n.*1864G>A)
c.2499G>A (p.Met833Ile)
c.3120G>A (p.Met1040Ile)
c.2787G>A (p.Met929Ile)
c.2868G>A (p.Met956Ile)
c.2886G>A (p.Met962Ile)
n.3259G>A
n.3483G>A
c.2055G>A (p.Met685Ile)
c.1830G>A (p.Met610Ile)
c.2925G>A (p.Met975Ile)
n.340G>A
c.1022-1678G>A
c.*221G>A (n.*221G>A)
n.3864G>A
n.2465G>A
c.2976G>A (p.Met992Ile)
n.466G>A
c.3024G>A (p.Met1008Ile)
c.3084G>A (p.Met1028Ile)
c.2634G>A (p.Met878Ile)
c.936G>A (p.Met312Ile)
c.877-1678G>A (n.877-1678G>A)
c.2985G>A (p.Met995Ile)
c.3061-1678G>A (n.3061-1678G>A)
c.2706G>A (p.Met902Ile)
c.2731-1678G>A (n.2731-1678G>A)
c.1788G>A (p.Met596Ile)
n.3339G>A
13g.51944233A>CCA388030328ATP7Bc.*894-1679T>G (n.*894-1679T>G)
c.*1863T>G (n.*1863T>G)
c.2498T>G (p.Met833Arg)
c.3119T>G (p.Met1040Arg)
c.2786T>G (p.Met929Arg)
c.2867T>G (p.Met956Arg)
c.2885T>G (p.Met962Arg)
n.3258T>G
n.3482T>G
c.2054T>G (p.Met685Arg)
c.1829T>G (p.Met610Arg)
c.2924T>G (p.Met975Arg)
n.339T>G
c.1022-1679T>G
c.*220T>G (n.*220T>G)
n.3863T>G
n.2464T>G
c.2975T>G (p.Met992Arg)
n.465T>G
c.3023T>G (p.Met1008Arg)
c.3083T>G (p.Met1028Arg)
c.2633T>G (p.Met878Arg)
c.935T>G (p.Met312Arg)
c.877-1679T>G (n.877-1679T>G)
c.2984T>G (p.Met995Arg)
c.3061-1679T>G (n.3061-1679T>G)
c.2705T>G (p.Met902Arg)
c.2731-1679T>G (n.2731-1679T>G)
c.1787T>G (p.Met596Arg)
n.3338T>G
13g.51944233A>GCA388030324ATP7Bc.*894-1679T>C (n.*894-1679T>C)
c.*1863T>C (n.*1863T>C)
c.2498T>C (p.Met833Thr)
c.3119T>C (p.Met1040Thr)
c.2786T>C (p.Met929Thr)
c.2867T>C (p.Met956Thr)
c.2885T>C (p.Met962Thr)
n.3258T>C
n.3482T>C
c.2054T>C (p.Met685Thr)
c.1829T>C (p.Met610Thr)
c.2924T>C (p.Met975Thr)
n.339T>C
c.1022-1679T>C
c.*220T>C (n.*220T>C)
n.3863T>C
n.2464T>C
c.2975T>C (p.Met992Thr)
n.465T>C
c.3023T>C (p.Met1008Thr)
c.3083T>C (p.Met1028Thr)
c.2633T>C (p.Met878Thr)
c.935T>C (p.Met312Thr)
c.877-1679T>C (n.877-1679T>C)
c.2984T>C (p.Met995Thr)
c.3061-1679T>C (n.3061-1679T>C)
c.2705T>C (p.Met902Thr)
c.2731-1679T>C (n.2731-1679T>C)
c.1787T>C (p.Met596Thr)
n.3338T>C
13g.51944233A>TCA388030331ATP7Bc.*894-1679T>A (n.*894-1679T>A)
c.*1863T>A (n.*1863T>A)
c.2498T>A (p.Met833Lys)
c.3119T>A (p.Met1040Lys)
c.2786T>A (p.Met929Lys)
c.2867T>A (p.Met956Lys)
c.2885T>A (p.Met962Lys)
n.3258T>A
n.3482T>A
c.2054T>A (p.Met685Lys)
c.1829T>A (p.Met610Lys)
c.2924T>A (p.Met975Lys)
n.339T>A
c.1022-1679T>A
c.*220T>A (n.*220T>A)
n.3863T>A
n.2464T>A
c.2975T>A (p.Met992Lys)
n.465T>A
c.3023T>A (p.Met1008Lys)
c.3083T>A (p.Met1028Lys)
c.2633T>A (p.Met878Lys)
c.935T>A (p.Met312Lys)
c.877-1679T>A (n.877-1679T>A)
c.2984T>A (p.Met995Lys)
c.3061-1679T>A (n.3061-1679T>A)
c.2705T>A (p.Met902Lys)
c.2731-1679T>A (n.2731-1679T>A)
c.1787T>A (p.Met596Lys)
n.3338T>A
13g.51944234T>ACA388030333ATP7Bc.*894-1680A>T (n.*894-1680A>T)
c.*1862A>T (n.*1862A>T)
c.2497A>T (p.Met833Leu)
c.3118A>T (p.Met1040Leu)
c.2785A>T (p.Met929Leu)
c.2866A>T (p.Met956Leu)
c.2884A>T (p.Met962Leu)
n.3257A>T
n.3481A>T
c.2053A>T (p.Met685Leu)
c.1828A>T (p.Met610Leu)
c.2923A>T (p.Met975Leu)
n.338A>T
c.1022-1680A>T
c.*219A>T (n.*219A>T)
n.3862A>T
n.2463A>T
c.2974A>T (p.Met992Leu)
n.464A>T
c.3022A>T (p.Met1008Leu)
c.3082A>T (p.Met1028Leu)
c.2632A>T (p.Met878Leu)
c.934A>T (p.Met312Leu)
c.877-1680A>T (n.877-1680A>T)
c.2983A>T (p.Met995Leu)
c.3061-1680A>T (n.3061-1680A>T)
c.2704A>T (p.Met902Leu)
c.2731-1680A>T (n.2731-1680A>T)
c.1786A>T (p.Met596Leu)
n.3337A>T
 ClinVar
13g.51944234T>CCA388030336ATP7Bc.*894-1680A>G (n.*894-1680A>G)
c.*1862A>G (n.*1862A>G)
c.2497A>G (p.Met833Val)
c.3118A>G (p.Met1040Val)
c.2785A>G (p.Met929Val)
c.2866A>G (p.Met956Val)
c.2884A>G (p.Met962Val)
n.3257A>G
n.3481A>G
c.2053A>G (p.Met685Val)
c.1828A>G (p.Met610Val)
c.2923A>G (p.Met975Val)
n.338A>G
c.1022-1680A>G
c.*219A>G (n.*219A>G)
n.3862A>G
n.2463A>G
c.2974A>G (p.Met992Val)
n.464A>G
c.3022A>G (p.Met1008Val)
c.3082A>G (p.Met1028Val)
c.2632A>G (p.Met878Val)
c.934A>G (p.Met312Val)
c.877-1680A>G (n.877-1680A>G)
c.2983A>G (p.Met995Val)
c.3061-1680A>G (n.3061-1680A>G)
c.2704A>G (p.Met902Val)
c.2731-1680A>G (n.2731-1680A>G)
c.1786A>G (p.Met596Val)
n.3337A>G
 gnomAD v4
13g.51944234T>GCA388030341ATP7Bc.*894-1680A>C (n.*894-1680A>C)
c.*1862A>C (n.*1862A>C)
c.2497A>C (p.Met833Leu)
c.3118A>C (p.Met1040Leu)
c.2785A>C (p.Met929Leu)
c.2866A>C (p.Met956Leu)
c.2884A>C (p.Met962Leu)
n.3257A>C
n.3481A>C
c.2053A>C (p.Met685Leu)
c.1828A>C (p.Met610Leu)
c.2923A>C (p.Met975Leu)
n.338A>C
c.1022-1680A>C
c.*219A>C (n.*219A>C)
n.3862A>C
n.2463A>C
c.2974A>C (p.Met992Leu)
n.464A>C
c.3022A>C (p.Met1008Leu)
c.3082A>C (p.Met1028Leu)
c.2632A>C (p.Met878Leu)
c.934A>C (p.Met312Leu)
c.877-1680A>C (n.877-1680A>C)
c.2983A>C (p.Met995Leu)
c.3061-1680A>C (n.3061-1680A>C)
c.2704A>C (p.Met902Leu)
c.2731-1680A>C (n.2731-1680A>C)
c.1786A>C (p.Met596Leu)
n.3337A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51944234T=CA2091564062ATP7Bc.*894-1680A= (n.*894-1680A=)
c.*1862A= (n.*1862A=)
c.2497A= (p.Met833=)
c.3118A= (p.Met1040=)
c.2785A= (p.Met929=)
c.2866A= (p.Met956=)
c.2884A= (p.Met962=)
n.3257A=
n.3481A=
c.2053A= (p.Met685=)
c.1828A= (p.Met610=)
c.2923A= (p.Met975=)
n.338A=
c.1022-1680A=
c.*219A= (n.*219A=)
n.3862A=
n.2463A=
c.2974A= (p.Met992=)
n.464A=
c.3022A= (p.Met1008=)
c.3082A= (p.Met1028=)
c.2632A= (p.Met878=)
c.934A= (p.Met312=)
c.877-1680A= (n.877-1680A=)
c.2983A= (p.Met995=)
c.3061-1680A= (n.3061-1680A=)
c.2704A= (p.Met902=)
c.2731-1680A= (n.2731-1680A=)
c.1786A= (p.Met596=)
n.3337A=
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.51944235G>ACA483894737ATP7Bc.*894-1681C>T (n.*894-1681C>T)
c.*1861C>T (n.*1861C>T)
c.2496C>T (p.Val832=)
c.3117C>T (p.Val1039=)
c.2784C>T (p.Val928=)
c.2865C>T (p.Val955=)
c.2883C>T (p.Val961=)
n.3256C>T
n.3480C>T
c.2052C>T (p.Val684=)
c.1827C>T (p.Val609=)
c.2922C>T (p.Val974=)
n.337C>T
c.1022-1681C>T
c.*218C>T (n.*218C>T)
n.3861C>T
n.2462C>T
c.2973C>T (p.Val991=)
n.463C>T
c.3021C>T (p.Val1007=)
c.3081C>T (p.Val1027=)
c.2631C>T (p.Val877=)
c.933C>T (p.Val311=)
c.877-1681C>T (n.877-1681C>T)
c.2982C>T (p.Val994=)
c.3061-1681C>T (n.3061-1681C>T)
c.2703C>T (p.Val901=)
c.2731-1681C>T (n.2731-1681C>T)
c.1785C>T (p.Val595=)
n.3336C>T
 ClinVar dbSNP
13g.51944235G>CCA483894738ATP7Bc.*894-1681C>G (n.*894-1681C>G)
c.*1861C>G (n.*1861C>G)
c.2496C>G (p.Val832=)
c.3117C>G (p.Val1039=)
c.2784C>G (p.Val928=)
c.2865C>G (p.Val955=)
c.2883C>G (p.Val961=)
n.3256C>G
n.3480C>G
c.2052C>G (p.Val684=)
c.1827C>G (p.Val609=)
c.2922C>G (p.Val974=)
n.337C>G
c.1022-1681C>G
c.*218C>G (n.*218C>G)
n.3861C>G
n.2462C>G
c.2973C>G (p.Val991=)
n.463C>G
c.3021C>G (p.Val1007=)
c.3081C>G (p.Val1027=)
c.2631C>G (p.Val877=)
c.933C>G (p.Val311=)
c.877-1681C>G (n.877-1681C>G)
c.2982C>G (p.Val994=)
c.3061-1681C>G (n.3061-1681C>G)
c.2703C>G (p.Val901=)
c.2731-1681C>G (n.2731-1681C>G)
c.1785C>G (p.Val595=)
n.3336C>G
13g.51944235G>TCA483894739ATP7Bc.*894-1681C>A (n.*894-1681C>A)
c.*1861C>A (n.*1861C>A)
c.2496C>A (p.Val832=)
c.3117C>A (p.Val1039=)
c.2784C>A (p.Val928=)
c.2865C>A (p.Val955=)
c.2883C>A (p.Val961=)
n.3256C>A
n.3480C>A
c.2052C>A (p.Val684=)
c.1827C>A (p.Val609=)
c.2922C>A (p.Val974=)
n.337C>A
c.1022-1681C>A
c.*218C>A (n.*218C>A)
n.3861C>A
n.2462C>A
c.2973C>A (p.Val991=)
n.463C>A
c.3021C>A (p.Val1007=)
c.3081C>A (p.Val1027=)
c.2631C>A (p.Val877=)
c.933C>A (p.Val311=)
c.877-1681C>A (n.877-1681C>A)
c.2982C>A (p.Val994=)
c.3061-1681C>A (n.3061-1681C>A)
c.2703C>A (p.Val901=)
c.2731-1681C>A (n.2731-1681C>A)
c.1785C>A (p.Val595=)
n.3336C>A
 COSMIC
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.51944236A>CCA388030342ATP7Bc.*894-1682T>G (n.*894-1682T>G)
c.*1860T>G (n.*1860T>G)
c.2495T>G (p.Val832Gly)
c.3116T>G (p.Val1039Gly)
c.2783T>G (p.Val928Gly)
c.2864T>G (p.Val955Gly)
c.2882T>G (p.Val961Gly)
n.3255T>G
n.3479T>G
c.2051T>G (p.Val684Gly)
c.1826T>G (p.Val609Gly)
c.2921T>G (p.Val974Gly)
n.336T>G
c.1022-1682T>G
c.*217T>G (n.*217T>G)
n.3860T>G
n.2461T>G
c.2972T>G (p.Val991Gly)
n.462T>G
c.3020T>G (p.Val1007Gly)
c.3080T>G (p.Val1027Gly)
c.2630T>G (p.Val877Gly)
c.932T>G (p.Val311Gly)
c.877-1682T>G (n.877-1682T>G)
c.2981T>G (p.Val994Gly)
c.3061-1682T>G (n.3061-1682T>G)
c.2702T>G (p.Val901Gly)
c.2731-1682T>G (n.2731-1682T>G)
c.1784T>G (p.Val595Gly)
n.3335T>G
13g.51944236A>GCA388030343ATP7Bc.*894-1682T>C (n.*894-1682T>C)
c.*1860T>C (n.*1860T>C)
c.2495T>C (p.Val832Ala)
c.3116T>C (p.Val1039Ala)
c.2783T>C (p.Val928Ala)
c.2864T>C (p.Val955Ala)
c.2882T>C (p.Val961Ala)
n.3255T>C
n.3479T>C
c.2051T>C (p.Val684Ala)
c.1826T>C (p.Val609Ala)
c.2921T>C (p.Val974Ala)
n.336T>C
c.1022-1682T>C
c.*217T>C (n.*217T>C)
n.3860T>C
n.2461T>C
c.2972T>C (p.Val991Ala)
n.462T>C
c.3020T>C (p.Val1007Ala)
c.3080T>C (p.Val1027Ala)
c.2630T>C (p.Val877Ala)
c.932T>C (p.Val311Ala)
c.877-1682T>C (n.877-1682T>C)
c.2981T>C (p.Val994Ala)
c.3061-1682T>C (n.3061-1682T>C)
c.2702T>C (p.Val901Ala)
c.2731-1682T>C (n.2731-1682T>C)
c.1784T>C (p.Val595Ala)
n.3335T>C
13g.51944236A>TCA388030344ATP7Bc.*894-1682T>A (n.*894-1682T>A)
c.*1860T>A (n.*1860T>A)
c.2495T>A (p.Val832Asp)
c.3116T>A (p.Val1039Asp)
c.2783T>A (p.Val928Asp)
c.2864T>A (p.Val955Asp)
c.2882T>A (p.Val961Asp)
n.3255T>A
n.3479T>A
c.2051T>A (p.Val684Asp)
c.1826T>A (p.Val609Asp)
c.2921T>A (p.Val974Asp)
n.336T>A
c.1022-1682T>A
c.*217T>A (n.*217T>A)
n.3860T>A
n.2461T>A
c.2972T>A (p.Val991Asp)
n.462T>A
c.3020T>A (p.Val1007Asp)
c.3080T>A (p.Val1027Asp)
c.2630T>A (p.Val877Asp)
c.932T>A (p.Val311Asp)
c.877-1682T>A (n.877-1682T>A)
c.2981T>A (p.Val994Asp)
c.3061-1682T>A (n.3061-1682T>A)
c.2702T>A (p.Val901Asp)
c.2731-1682T>A (n.2731-1682T>A)
c.1784T>A (p.Val595Asp)
n.3335T>A
13g.51944237C>ACA388030345ATP7Bc.*894-1683G>T (n.*894-1683G>T)
c.*1859G>T (n.*1859G>T)
c.2494G>T (p.Val832Phe)
c.3115G>T (p.Val1039Phe)
c.2782G>T (p.Val928Phe)
c.2863G>T (p.Val955Phe)
c.2881G>T (p.Val961Phe)
n.3254G>T
n.3478G>T
c.2050G>T (p.Val684Phe)
c.1825G>T (p.Val609Phe)
c.2920G>T (p.Val974Phe)
n.335G>T
c.1022-1683G>T
c.*216G>T (n.*216G>T)
n.3859G>T
n.2460G>T
c.2971G>T (p.Val991Phe)
n.461G>T
c.3019G>T (p.Val1007Phe)
c.3079G>T (p.Val1027Phe)
c.2629G>T (p.Val877Phe)
c.931G>T (p.Val311Phe)
c.877-1683G>T (n.877-1683G>T)
c.2980G>T (p.Val994Phe)
c.3061-1683G>T (n.3061-1683G>T)
c.2701G>T (p.Val901Phe)
c.2731-1683G>T (n.2731-1683G>T)
c.1783G>T (p.Val595Phe)
n.3334G>T
13g.51944237C>GCA388030348ATP7Bc.*894-1683G>C (n.*894-1683G>C)
c.*1859G>C (n.*1859G>C)
c.2494G>C (p.Val832Leu)
c.3115G>C (p.Val1039Leu)
c.2782G>C (p.Val928Leu)
c.2863G>C (p.Val955Leu)
c.2881G>C (p.Val961Leu)
n.3254G>C
n.3478G>C
c.2050G>C (p.Val684Leu)
c.1825G>C (p.Val609Leu)
c.2920G>C (p.Val974Leu)
n.335G>C
c.1022-1683G>C
c.*216G>C (n.*216G>C)
n.3859G>C
n.2460G>C
c.2971G>C (p.Val991Leu)
n.461G>C
c.3019G>C (p.Val1007Leu)
c.3079G>C (p.Val1027Leu)
c.2629G>C (p.Val877Leu)
c.931G>C (p.Val311Leu)
c.877-1683G>C (n.877-1683G>C)
c.2980G>C (p.Val994Leu)
c.3061-1683G>C (n.3061-1683G>C)
c.2701G>C (p.Val901Leu)
c.2731-1683G>C (n.2731-1683G>C)
c.1783G>C (p.Val595Leu)
n.3334G>C
13g.51944237C>TCA388030354ATP7Bc.*894-1683G>A (n.*894-1683G>A)
c.*1859G>A (n.*1859G>A)
c.2494G>A (p.Val832Ile)
c.3115G>A (p.Val1039Ile)
c.2782G>A (p.Val928Ile)
c.2863G>A (p.Val955Ile)
c.2881G>A (p.Val961Ile)
n.3254G>A
n.3478G>A
c.2050G>A (p.Val684Ile)
c.1825G>A (p.Val609Ile)
c.2920G>A (p.Val974Ile)
n.335G>A
c.1022-1683G>A
c.*216G>A (n.*216G>A)
n.3859G>A
n.2460G>A
c.2971G>A (p.Val991Ile)
n.461G>A
c.3019G>A (p.Val1007Ile)
c.3079G>A (p.Val1027Ile)
c.2629G>A (p.Val877Ile)
c.931G>A (p.Val311Ile)
c.877-1683G>A (n.877-1683G>A)
c.2980G>A (p.Val994Ile)
c.3061-1683G>A (n.3061-1683G>A)
c.2701G>A (p.Val901Ile)
c.2731-1683G>A (n.2731-1683G>A)
c.1783G>A (p.Val595Ile)
n.3334G>A
13g.51944239delCA2695218747ATP7Bc.*894-1683del (n.*894-1683del)
c.*1859del (n.*1859del)
c.2494del (p.Val832SerfsTer?)
c.3115del (p.Val1039SerfsTer?)
c.2782del (p.Val928SerfsTer?)
c.2863del (p.Val955SerfsTer?)
c.2881del (p.Val961SerfsTer?)
n.3254del
n.3478del
c.2050del (p.Val684SerfsTer?)
c.1825del (p.Val609SerfsTer?)
c.2920del (p.Val974SerfsTer?)
n.335del
c.1022-1683del
c.*216del (n.*216del)
n.3859del
n.2460del
c.2971del (p.Val991SerfsTer?)
n.461del
c.3019del (p.Val1007SerfsTer?)
c.3079del (p.Val1027SerfsTer?)
c.2629del (p.Val877SerfsTer?)
c.931del (p.Val311SerfsTer?)
c.877-1683del (n.877-1683del)
c.2980del (p.Val994SerfsTer?)
c.3061-1683del (n.3061-1683del)
c.2701del (p.Val901SerfsTer?)
c.2731-1683del (n.2731-1683del)
c.1783del (p.Val595SerfsTer?)
n.3334del
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.51944238C>ACA388030361ATP7Bc.*894-1684G>T (n.*894-1684G>T)
c.*1858G>T (n.*1858G>T)
c.2493G>T (p.Arg831Ser)
c.3114G>T (p.Arg1038Ser)
c.2781G>T (p.Arg927Ser)
c.2862G>T (p.Arg954Ser)
c.2880G>T (p.Arg960Ser)
n.3253G>T
n.3477G>T
c.2049G>T (p.Arg683Ser)
c.1824G>T (p.Arg608Ser)
c.2919G>T (p.Arg973Ser)
n.334G>T
c.1022-1684G>T
c.*215G>T (n.*215G>T)
n.3858G>T
n.2459G>T
c.2970G>T (p.Arg990Ser)
n.460G>T
c.3018G>T (p.Arg1006Ser)
c.3078G>T (p.Arg1026Ser)
c.2628G>T (p.Arg876Ser)
c.930G>T (p.Arg310Ser)
c.877-1684G>T (n.877-1684G>T)
c.2979G>T (p.Arg993Ser)
c.3061-1684G>T (n.3061-1684G>T)
c.2700G>T (p.Arg900Ser)
c.2731-1684G>T (n.2731-1684G>T)
c.1782G>T (p.Arg594Ser)
n.3333G>T
13g.51944238C=CA2091564071ATP7Bc.*894-1684G= (n.*894-1684G=)
c.*1858G= (n.*1858G=)
c.2493G= (p.Arg831=)
c.3114G= (p.Arg1038=)
c.2781G= (p.Arg927=)
c.2862G= (p.Arg954=)
c.2880G= (p.Arg960=)
n.3253G=
n.3477G=
c.2049G= (p.Arg683=)
c.1824G= (p.Arg608=)
c.2919G= (p.Arg973=)
n.334G=
c.1022-1684G=
c.*215G= (n.*215G=)
n.3858G=
n.2459G=
c.2970G= (p.Arg990=)
n.460G=
c.3018G= (p.Arg1006=)
c.3078G= (p.Arg1026=)
c.2628G= (p.Arg876=)
c.930G= (p.Arg310=)
c.877-1684G= (n.877-1684G=)
c.2979G= (p.Arg993=)
c.3061-1684G= (n.3061-1684G=)
c.2700G= (p.Arg900=)
c.2731-1684G= (n.2731-1684G=)
c.1782G= (p.Arg594=)
n.3333G=
13g.51944238C>GCA388030363ATP7Bc.*894-1684G>C (n.*894-1684G>C)
c.*1858G>C (n.*1858G>C)
c.2493G>C (p.Arg831Ser)
c.3114G>C (p.Arg1038Ser)
c.2781G>C (p.Arg927Ser)
c.2862G>C (p.Arg954Ser)
c.2880G>C (p.Arg960Ser)
n.3253G>C
n.3477G>C
c.2049G>C (p.Arg683Ser)
c.1824G>C (p.Arg608Ser)
c.2919G>C (p.Arg973Ser)
n.334G>C
c.1022-1684G>C
c.*215G>C (n.*215G>C)
n.3858G>C
n.2459G>C
c.2970G>C (p.Arg990Ser)
n.460G>C
c.3018G>C (p.Arg1006Ser)
c.3078G>C (p.Arg1026Ser)
c.2628G>C (p.Arg876Ser)
c.930G>C (p.Arg310Ser)
c.877-1684G>C (n.877-1684G>C)
c.2979G>C (p.Arg993Ser)
c.3061-1684G>C (n.3061-1684G>C)
c.2700G>C (p.Arg900Ser)
c.2731-1684G>C (n.2731-1684G>C)
c.1782G>C (p.Arg594Ser)
n.3333G>C
13g.51944238C>TCA6988804ATP7Bc.*894-1684G>A (n.*894-1684G>A)
c.*1858G>A (n.*1858G>A)
c.2493G>A (p.Arg831=)
c.3114G>A (p.Arg1038=)
c.2781G>A (p.Arg927=)
c.2862G>A (p.Arg954=)
c.2880G>A (p.Arg960=)
n.3253G>A
n.3477G>A
c.2049G>A (p.Arg683=)
c.1824G>A (p.Arg608=)
c.2919G>A (p.Arg973=)
n.334G>A
c.1022-1684G>A
c.*215G>A (n.*215G>A)
n.3858G>A
n.2459G>A
c.2970G>A (p.Arg990=)
n.460G>A
c.3018G>A (p.Arg1006=)
c.3078G>A (p.Arg1026=)
c.2628G>A (p.Arg876=)
c.930G>A (p.Arg310=)
c.877-1684G>A (n.877-1684G>A)
c.2979G>A (p.Arg993=)
c.3061-1684G>A (n.3061-1684G>A)
c.2700G>A (p.Arg900=)
c.2731-1684G>A (n.2731-1684G>A)
c.1782G>A (p.Arg594=)
n.3333G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51944239C>ACA388030373ATP7Bc.*894-1685G>T (n.*894-1685G>T)
c.*1857G>T (n.*1857G>T)
c.2492G>T (p.Arg831Met)
c.3113G>T (p.Arg1038Met)
c.2780G>T (p.Arg927Met)
c.2861G>T (p.Arg954Met)
c.2879G>T (p.Arg960Met)
n.3252G>T
n.3476G>T
c.2048G>T (p.Arg683Met)
c.1823G>T (p.Arg608Met)
c.2918G>T (p.Arg973Met)
n.333G>T
c.1022-1685G>T
c.*214G>T (n.*214G>T)
n.3857G>T
n.2458G>T
c.2969G>T (p.Arg990Met)
n.459G>T
c.3017G>T (p.Arg1006Met)
c.3077G>T (p.Arg1026Met)
c.2627G>T (p.Arg876Met)
c.929G>T (p.Arg310Met)
c.877-1685G>T (n.877-1685G>T)
c.2978G>T (p.Arg993Met)
c.3061-1685G>T (n.3061-1685G>T)
c.2699G>T (p.Arg900Met)
c.2731-1685G>T (n.2731-1685G>T)
c.1781G>T (p.Arg594Met)
n.3332G>T
13g.51944239C=CA2091564075ATP7Bc.*894-1685G= (n.*894-1685G=)
c.*1857G= (n.*1857G=)
c.2492G= (p.Arg831=)
c.3113G= (p.Arg1038=)
c.2780G= (p.Arg927=)
c.2861G= (p.Arg954=)
c.2879G= (p.Arg960=)
n.3252G=
n.3476G=
c.2048G= (p.Arg683=)
c.1823G= (p.Arg608=)
c.2918G= (p.Arg973=)
n.333G=
c.1022-1685G=
c.*214G= (n.*214G=)
n.3857G=
n.2458G=
c.2969G= (p.Arg990=)
n.459G=
c.3017G= (p.Arg1006=)
c.3077G= (p.Arg1026=)
c.2627G= (p.Arg876=)
c.929G= (p.Arg310=)
c.877-1685G= (n.877-1685G=)
c.2978G= (p.Arg993=)
c.3061-1685G= (n.3061-1685G=)
c.2699G= (p.Arg900=)
c.2731-1685G= (n.2731-1685G=)
c.1781G= (p.Arg594=)
n.3332G=
13g.51944239C>GCA250080239ATP7Bc.*894-1685G>C (n.*894-1685G>C)
c.*1857G>C (n.*1857G>C)
c.2492G>C (p.Arg831Thr)
c.3113G>C (p.Arg1038Thr)
c.2780G>C (p.Arg927Thr)
c.2861G>C (p.Arg954Thr)
c.2879G>C (p.Arg960Thr)
n.3252G>C
n.3476G>C
c.2048G>C (p.Arg683Thr)
c.1823G>C (p.Arg608Thr)
c.2918G>C (p.Arg973Thr)
n.333G>C
c.1022-1685G>C
c.*214G>C (n.*214G>C)
n.3857G>C
n.2458G>C
c.2969G>C (p.Arg990Thr)
n.459G>C
c.3017G>C (p.Arg1006Thr)
c.3077G>C (p.Arg1026Thr)
c.2627G>C (p.Arg876Thr)
c.929G>C (p.Arg310Thr)
c.877-1685G>C (n.877-1685G>C)
c.2978G>C (p.Arg993Thr)
c.3061-1685G>C (n.3061-1685G>C)
c.2699G>C (p.Arg900Thr)
c.2731-1685G>C (n.2731-1685G>C)
c.1781G>C (p.Arg594Thr)
n.3332G>C
 dbSNP gnomAD v4
13g.51944239C>TCA6988805ATP7Bc.*894-1685G>A (n.*894-1685G>A)
c.*1857G>A (n.*1857G>A)
c.2492G>A (p.Arg831Lys)
c.3113G>A (p.Arg1038Lys)
c.2780G>A (p.Arg927Lys)
c.2861G>A (p.Arg954Lys)
c.2879G>A (p.Arg960Lys)
n.3252G>A
n.3476G>A
c.2048G>A (p.Arg683Lys)
c.1823G>A (p.Arg608Lys)
c.2918G>A (p.Arg973Lys)
n.333G>A
c.1022-1685G>A
c.*214G>A (n.*214G>A)
n.3857G>A
n.2458G>A
c.2969G>A (p.Arg990Lys)
n.459G>A
c.3017G>A (p.Arg1006Lys)
c.3077G>A (p.Arg1026Lys)
c.2627G>A (p.Arg876Lys)
c.929G>A (p.Arg310Lys)
c.877-1685G>A (n.877-1685G>A)
c.2978G>A (p.Arg993Lys)
c.3061-1685G>A (n.3061-1685G>A)
c.2699G>A (p.Arg900Lys)
c.2731-1685G>A (n.2731-1685G>A)
c.1781G>A (p.Arg594Lys)
n.3332G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51944240T>ACA388030378ATP7Bc.*894-1686A>T (n.*894-1686A>T)
c.*1856A>T (n.*1856A>T)
c.2491A>T (p.Arg831Trp)
c.3112A>T (p.Arg1038Trp)
c.2779A>T (p.Arg927Trp)
c.2860A>T (p.Arg954Trp)
c.2878A>T (p.Arg960Trp)
n.3251A>T
n.3475A>T
c.2047A>T (p.Arg683Trp)
c.1822A>T (p.Arg608Trp)
c.2917A>T (p.Arg973Trp)
n.332A>T
c.1022-1686A>T
c.*213A>T (n.*213A>T)
n.3856A>T
n.2457A>T
c.2968A>T (p.Arg990Trp)
n.458A>T
c.3016A>T (p.Arg1006Trp)
c.3076A>T (p.Arg1026Trp)
c.2626A>T (p.Arg876Trp)
c.928A>T (p.Arg310Trp)
c.877-1686A>T (n.877-1686A>T)
c.2977A>T (p.Arg993Trp)
c.3061-1686A>T (n.3061-1686A>T)
c.2698A>T (p.Arg900Trp)
c.2731-1686A>T (n.2731-1686A>T)
c.1780A>T (p.Arg594Trp)
n.3331A>T
13g.51944240T>CCA388030387ATP7Bc.*894-1686A>G (n.*894-1686A>G)
c.*1856A>G (n.*1856A>G)
c.2491A>G (p.Arg831Gly)
c.3112A>G (p.Arg1038Gly)
c.2779A>G (p.Arg927Gly)
c.2860A>G (p.Arg954Gly)
c.2878A>G (p.Arg960Gly)
n.3251A>G
n.3475A>G
c.2047A>G (p.Arg683Gly)
c.1822A>G (p.Arg608Gly)
c.2917A>G (p.Arg973Gly)
n.332A>G
c.1022-1686A>G
c.*213A>G (n.*213A>G)
n.3856A>G
n.2457A>G
c.2968A>G (p.Arg990Gly)
n.458A>G
c.3016A>G (p.Arg1006Gly)
c.3076A>G (p.Arg1026Gly)
c.2626A>G (p.Arg876Gly)
c.928A>G (p.Arg310Gly)
c.877-1686A>G (n.877-1686A>G)
c.2977A>G (p.Arg993Gly)
c.3061-1686A>G (n.3061-1686A>G)
c.2698A>G (p.Arg900Gly)
c.2731-1686A>G (n.2731-1686A>G)
c.1780A>G (p.Arg594Gly)
n.3331A>G
13g.51944240T>GCA483894740ATP7Bc.*894-1686A>C (n.*894-1686A>C)
c.*1856A>C (n.*1856A>C)
c.2491A>C (p.Arg831=)
c.3112A>C (p.Arg1038=)
c.2779A>C (p.Arg927=)
c.2860A>C (p.Arg954=)
c.2878A>C (p.Arg960=)
n.3251A>C
n.3475A>C
c.2047A>C (p.Arg683=)
c.1822A>C (p.Arg608=)
c.2917A>C (p.Arg973=)
n.332A>C
c.1022-1686A>C
c.*213A>C (n.*213A>C)
n.3856A>C
n.2457A>C
c.2968A>C (p.Arg990=)
n.458A>C
c.3016A>C (p.Arg1006=)
c.3076A>C (p.Arg1026=)
c.2626A>C (p.Arg876=)
c.928A>C (p.Arg310=)
c.877-1686A>C (n.877-1686A>C)
c.2977A>C (p.Arg993=)
c.3061-1686A>C (n.3061-1686A>C)
c.2698A>C (p.Arg900=)
c.2731-1686A>C (n.2731-1686A>C)
c.1780A>C (p.Arg594=)
n.3331A>C
 ClinVar dbSNP
13g.51944240T=CA2091564080ATP7Bc.*894-1686A= (n.*894-1686A=)
c.*1856A= (n.*1856A=)
c.2491A= (p.Arg831=)
c.3112A= (p.Arg1038=)
c.2779A= (p.Arg927=)
c.2860A= (p.Arg954=)
c.2878A= (p.Arg960=)
n.3251A=
n.3475A=
c.2047A= (p.Arg683=)
c.1822A= (p.Arg608=)
c.2917A= (p.Arg973=)
n.332A=
c.1022-1686A=
c.*213A= (n.*213A=)
n.3856A=
n.2457A=
c.2968A= (p.Arg990=)
n.458A=
c.3016A= (p.Arg1006=)
c.3076A= (p.Arg1026=)
c.2626A= (p.Arg876=)
c.928A= (p.Arg310=)
c.877-1686A= (n.877-1686A=)
c.2977A= (p.Arg993=)
c.3061-1686A= (n.3061-1686A=)
c.2698A= (p.Arg900=)
c.2731-1686A= (n.2731-1686A=)
c.1780A= (p.Arg594=)
n.3331A=
13g.51944241G>ACA483894741ATP7Bc.*894-1687C>T (n.*894-1687C>T)
c.*1855C>T (n.*1855C>T)
c.2490C>T (p.Pro830=)
c.3111C>T (p.Pro1037=)
c.2778C>T (p.Pro926=)
c.2859C>T (p.Pro953=)
c.2877C>T (p.Pro959=)
n.3250C>T
n.3474C>T
c.2046C>T (p.Pro682=)
c.1821C>T (p.Pro607=)
c.2916C>T (p.Pro972=)
n.331C>T
c.1022-1687C>T
c.*212C>T (n.*212C>T)
n.3855C>T
n.2456C>T
c.2967C>T (p.Pro989=)
n.457C>T
c.3015C>T (p.Pro1005=)
c.3075C>T (p.Pro1025=)
c.2625C>T (p.Pro875=)
c.927C>T (p.Pro309=)
c.877-1687C>T (n.877-1687C>T)
c.2976C>T (p.Pro992=)
c.3061-1687C>T (n.3061-1687C>T)
c.2697C>T (p.Pro899=)
c.2731-1687C>T (n.2731-1687C>T)
c.1779C>T (p.Pro593=)
n.3330C>T
13g.51944241G>CCA483894742ATP7Bc.*894-1687C>G (n.*894-1687C>G)
c.*1855C>G (n.*1855C>G)
c.2490C>G (p.Pro830=)
c.3111C>G (p.Pro1037=)
c.2778C>G (p.Pro926=)
c.2859C>G (p.Pro953=)
c.2877C>G (p.Pro959=)
n.3250C>G
n.3474C>G
c.2046C>G (p.Pro682=)
c.1821C>G (p.Pro607=)
c.2916C>G (p.Pro972=)
n.331C>G
c.1022-1687C>G
c.*212C>G (n.*212C>G)
n.3855C>G
n.2456C>G
c.2967C>G (p.Pro989=)
n.457C>G
c.3015C>G (p.Pro1005=)
c.3075C>G (p.Pro1025=)
c.2625C>G (p.Pro875=)
c.927C>G (p.Pro309=)
c.877-1687C>G (n.877-1687C>G)
c.2976C>G (p.Pro992=)
c.3061-1687C>G (n.3061-1687C>G)
c.2697C>G (p.Pro899=)
c.2731-1687C>G (n.2731-1687C>G)
c.1779C>G (p.Pro593=)
n.3330C>G
13g.51944241G>TCA483894743ATP7Bc.*894-1687C>A (n.*894-1687C>A)
c.*1855C>A (n.*1855C>A)
c.2490C>A (p.Pro830=)
c.3111C>A (p.Pro1037=)
c.2778C>A (p.Pro926=)
c.2859C>A (p.Pro953=)
c.2877C>A (p.Pro959=)
n.3250C>A
n.3474C>A
c.2046C>A (p.Pro682=)
c.1821C>A (p.Pro607=)
c.2916C>A (p.Pro972=)
n.331C>A
c.1022-1687C>A
c.*212C>A (n.*212C>A)
n.3855C>A
n.2456C>A
c.2967C>A (p.Pro989=)
n.457C>A
c.3015C>A (p.Pro1005=)
c.3075C>A (p.Pro1025=)
c.2625C>A (p.Pro875=)
c.927C>A (p.Pro309=)
c.877-1687C>A (n.877-1687C>A)
c.2976C>A (p.Pro992=)
c.3061-1687C>A (n.3061-1687C>A)
c.2697C>A (p.Pro899=)
c.2731-1687C>A (n.2731-1687C>A)
c.1779C>A (p.Pro593=)
n.3330C>A
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=

Number of alleles fetched