Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51942449_51942452delCA2623119927ATP7Bc.*998_*1001del (n.*998_*1001del)
c.*2092_*2095del (n.*2092_*2095del)
c.2727_2730del (p.Glu910AlafsTer3)
c.3348_3351del (p.Glu1117AlafsTer3)
c.3015_3018del (p.Glu1006AlafsTer3)
c.3096_3099del (p.Glu1033AlafsTer3)
c.3114_3117del (p.Glu1039AlafsTer3)
n.3487_3490del
n.3711_3714del
c.2283_2286del (p.Glu762AlafsTer3)
c.2058_2061del (p.Glu687AlafsTer3)
c.3153_3156del (p.Glu1052AlafsTer3)
c.1126_1129del
c.*449_*452del (n.*449_*452del)
n.4092_4095del
n.2693_2696del
c.3204_3207del (p.Glu1069AlafsTer3)
c.3252_3255del (p.Glu1085AlafsTer3)
c.3312_3315del (p.Glu1105AlafsTer3)
c.2862_2865del (p.Glu955AlafsTer3)
c.1164_1167del (p.Glu389AlafsTer3)
c.981_984del (p.Glu328AlafsTer3)
c.3213_3216del (p.Glu1072AlafsTer3)
c.3165_3168del (p.Glu1056AlafsTer3)
c.2934_2937del (p.Glu979AlafsTer3)
c.2835_2838del (p.Glu946AlafsTer3)
c.2016_2019del (p.Glu673AlafsTer3)
n.3567_3570del
 gnomAD v4
13g.51942451C>ACA388028163ATP7Bc.*997G>T (n.*997G>T)
c.*2091G>T (n.*2091G>T)
c.2726G>T (p.Ser909Ile)
c.3347G>T (p.Ser1116Ile)
c.3014G>T (p.Ser1005Ile)
c.3095G>T (p.Ser1032Ile)
c.3113G>T (p.Ser1038Ile)
n.3486G>T
n.3710G>T
c.2282G>T (p.Ser761Ile)
c.2057G>T (p.Ser686Ile)
c.3152G>T (p.Ser1051Ile)
c.1125G>T
c.*448G>T (n.*448G>T)
n.4091G>T
n.2692G>T
c.3203G>T (p.Ser1068Ile)
c.3251G>T (p.Ser1084Ile)
c.3311G>T (p.Ser1104Ile)
c.2861G>T (p.Ser954Ile)
c.1163G>T (p.Ser388Ile)
c.980G>T (p.Ser327Ile)
c.3212G>T (p.Ser1071Ile)
c.3164G>T (p.Ser1055Ile)
c.2933G>T (p.Ser978Ile)
c.2834G>T (p.Ser945Ile)
c.2015G>T (p.Ser672Ile)
n.3566G>T
13g.51942451C>GCA388028167ATP7Bc.*997G>C (n.*997G>C)
c.*2091G>C (n.*2091G>C)
c.2726G>C (p.Ser909Thr)
c.3347G>C (p.Ser1116Thr)
c.3014G>C (p.Ser1005Thr)
c.3095G>C (p.Ser1032Thr)
c.3113G>C (p.Ser1038Thr)
n.3486G>C
n.3710G>C
c.2282G>C (p.Ser761Thr)
c.2057G>C (p.Ser686Thr)
c.3152G>C (p.Ser1051Thr)
c.1125G>C
c.*448G>C (n.*448G>C)
n.4091G>C
n.2692G>C
c.3203G>C (p.Ser1068Thr)
c.3251G>C (p.Ser1084Thr)
c.3311G>C (p.Ser1104Thr)
c.2861G>C (p.Ser954Thr)
c.1163G>C (p.Ser388Thr)
c.980G>C (p.Ser327Thr)
c.3212G>C (p.Ser1071Thr)
c.3164G>C (p.Ser1055Thr)
c.2933G>C (p.Ser978Thr)
c.2834G>C (p.Ser945Thr)
c.2015G>C (p.Ser672Thr)
n.3566G>C
13g.51942451C>TCA388028169ATP7Bc.*997G>A (n.*997G>A)
c.*2091G>A (n.*2091G>A)
c.2726G>A (p.Ser909Asn)
c.3347G>A (p.Ser1116Asn)
c.3014G>A (p.Ser1005Asn)
c.3095G>A (p.Ser1032Asn)
c.3113G>A (p.Ser1038Asn)
n.3486G>A
n.3710G>A
c.2282G>A (p.Ser761Asn)
c.2057G>A (p.Ser686Asn)
c.3152G>A (p.Ser1051Asn)
c.1125G>A
c.*448G>A (n.*448G>A)
n.4091G>A
n.2692G>A
c.3203G>A (p.Ser1068Asn)
c.3251G>A (p.Ser1084Asn)
c.3311G>A (p.Ser1104Asn)
c.2861G>A (p.Ser954Asn)
c.1163G>A (p.Ser388Asn)
c.980G>A (p.Ser327Asn)
c.3212G>A (p.Ser1071Asn)
c.3164G>A (p.Ser1055Asn)
c.2933G>A (p.Ser978Asn)
c.2834G>A (p.Ser945Asn)
c.2015G>A (p.Ser672Asn)
n.3566G>A
13g.51942452T>ACA388028173ATP7Bc.*996A>T (n.*996A>T)
c.*2090A>T (n.*2090A>T)
c.2725A>T (p.Ser909Cys)
c.3346A>T (p.Ser1116Cys)
c.3013A>T (p.Ser1005Cys)
c.3094A>T (p.Ser1032Cys)
c.3112A>T (p.Ser1038Cys)
n.3485A>T
n.3709A>T
c.2281A>T (p.Ser761Cys)
c.2056A>T (p.Ser686Cys)
c.3151A>T (p.Ser1051Cys)
c.1124A>T
c.*447A>T (n.*447A>T)
n.4090A>T
n.2691A>T
c.3202A>T (p.Ser1068Cys)
c.3250A>T (p.Ser1084Cys)
c.3310A>T (p.Ser1104Cys)
c.2860A>T (p.Ser954Cys)
c.1162A>T (p.Ser388Cys)
c.979A>T (p.Ser327Cys)
c.3211A>T (p.Ser1071Cys)
c.3163A>T (p.Ser1055Cys)
c.2932A>T (p.Ser978Cys)
c.2833A>T (p.Ser945Cys)
c.2014A>T (p.Ser672Cys)
n.3565A>T
13g.51942452T>CCA388028179ATP7Bc.*996A>G (n.*996A>G)
c.*2090A>G (n.*2090A>G)
c.2725A>G (p.Ser909Gly)
c.3346A>G (p.Ser1116Gly)
c.3013A>G (p.Ser1005Gly)
c.3094A>G (p.Ser1032Gly)
c.3112A>G (p.Ser1038Gly)
n.3485A>G
n.3709A>G
c.2281A>G (p.Ser761Gly)
c.2056A>G (p.Ser686Gly)
c.3151A>G (p.Ser1051Gly)
c.1124A>G
c.*447A>G (n.*447A>G)
n.4090A>G
n.2691A>G
c.3202A>G (p.Ser1068Gly)
c.3250A>G (p.Ser1084Gly)
c.3310A>G (p.Ser1104Gly)
c.2860A>G (p.Ser954Gly)
c.1162A>G (p.Ser388Gly)
c.979A>G (p.Ser327Gly)
c.3211A>G (p.Ser1071Gly)
c.3163A>G (p.Ser1055Gly)
c.2932A>G (p.Ser978Gly)
c.2833A>G (p.Ser945Gly)
c.2014A>G (p.Ser672Gly)
n.3565A>G
 dbSNP gnomAD v2 gnomAD v4
13g.51942452T>GCA388028183ATP7Bc.*996A>C (n.*996A>C)
c.*2090A>C (n.*2090A>C)
c.2725A>C (p.Ser909Arg)
c.3346A>C (p.Ser1116Arg)
c.3013A>C (p.Ser1005Arg)
c.3094A>C (p.Ser1032Arg)
c.3112A>C (p.Ser1038Arg)
n.3485A>C
n.3709A>C
c.2281A>C (p.Ser761Arg)
c.2056A>C (p.Ser686Arg)
c.3151A>C (p.Ser1051Arg)
c.1124A>C
c.*447A>C (n.*447A>C)
n.4090A>C
n.2691A>C
c.3202A>C (p.Ser1068Arg)
c.3250A>C (p.Ser1084Arg)
c.3310A>C (p.Ser1104Arg)
c.2860A>C (p.Ser954Arg)
c.1162A>C (p.Ser388Arg)
c.979A>C (p.Ser327Arg)
c.3211A>C (p.Ser1071Arg)
c.3163A>C (p.Ser1055Arg)
c.2932A>C (p.Ser978Arg)
c.2833A>C (p.Ser945Arg)
c.2014A>C (p.Ser672Arg)
n.3565A>C
13g.51942452T=CA2091561426ATP7Bc.*996A= (n.*996A=)
c.*2090A= (n.*2090A=)
c.2725A= (p.Ser909=)
c.3346A= (p.Ser1116=)
c.3013A= (p.Ser1005=)
c.3094A= (p.Ser1032=)
c.3112A= (p.Ser1038=)
n.3485A=
n.3709A=
c.2281A= (p.Ser761=)
c.2056A= (p.Ser686=)
c.3151A= (p.Ser1051=)
c.1124A=
c.*447A= (n.*447A=)
n.4090A=
n.2691A=
c.3202A= (p.Ser1068=)
c.3250A= (p.Ser1084=)
c.3310A= (p.Ser1104=)
c.2860A= (p.Ser954=)
c.1162A= (p.Ser388=)
c.979A= (p.Ser327=)
c.3211A= (p.Ser1071=)
c.3163A= (p.Ser1055=)
c.2932A= (p.Ser978=)
c.2833A= (p.Ser945=)
c.2014A= (p.Ser672=)
n.3565A=
13g.51942453G>ACA483894380ATP7Bc.*995C>T (n.*995C>T)
c.*2089C>T (n.*2089C>T)
c.2724C>T (p.His908=)
c.3345C>T (p.His1115=)
c.3012C>T (p.His1004=)
c.3093C>T (p.His1031=)
c.3111C>T (p.His1037=)
n.3484C>T
n.3708C>T
c.2280C>T (p.His760=)
c.2055C>T (p.His685=)
c.3150C>T (p.His1050=)
c.1123C>T
c.*446C>T (n.*446C>T)
n.4089C>T
n.2690C>T
c.3201C>T (p.His1067=)
c.3249C>T (p.His1083=)
c.3309C>T (p.His1103=)
c.2859C>T (p.His953=)
c.1161C>T (p.His387=)
c.978C>T (p.His326=)
c.3210C>T (p.His1070=)
c.3162C>T (p.His1054=)
c.2931C>T (p.His977=)
c.2832C>T (p.His944=)
c.2013C>T (p.His671=)
n.3564C>T
13g.51942453G>CCA388028186ATP7Bc.*995C>G (n.*995C>G)
c.*2089C>G (n.*2089C>G)
c.2724C>G (p.His908Gln)
c.3345C>G (p.His1115Gln)
c.3012C>G (p.His1004Gln)
c.3093C>G (p.His1031Gln)
c.3111C>G (p.His1037Gln)
n.3484C>G
n.3708C>G
c.2280C>G (p.His760Gln)
c.2055C>G (p.His685Gln)
c.3150C>G (p.His1050Gln)
c.1123C>G
c.*446C>G (n.*446C>G)
n.4089C>G
n.2690C>G
c.3201C>G (p.His1067Gln)
c.3249C>G (p.His1083Gln)
c.3309C>G (p.His1103Gln)
c.2859C>G (p.His953Gln)
c.1161C>G (p.His387Gln)
c.978C>G (p.His326Gln)
c.3210C>G (p.His1070Gln)
c.3162C>G (p.His1054Gln)
c.2931C>G (p.His977Gln)
c.2832C>G (p.His944Gln)
c.2013C>G (p.His671Gln)
n.3564C>G
 gnomAD v4
13g.51942453G>TCA388028188ATP7Bc.*995C>A (n.*995C>A)
c.*2089C>A (n.*2089C>A)
c.2724C>A (p.His908Gln)
c.3345C>A (p.His1115Gln)
c.3012C>A (p.His1004Gln)
c.3093C>A (p.His1031Gln)
c.3111C>A (p.His1037Gln)
n.3484C>A
n.3708C>A
c.2280C>A (p.His760Gln)
c.2055C>A (p.His685Gln)
c.3150C>A (p.His1050Gln)
c.1123C>A
c.*446C>A (n.*446C>A)
n.4089C>A
n.2690C>A
c.3201C>A (p.His1067Gln)
c.3249C>A (p.His1083Gln)
c.3309C>A (p.His1103Gln)
c.2859C>A (p.His953Gln)
c.1161C>A (p.His387Gln)
c.978C>A (p.His326Gln)
c.3210C>A (p.His1070Gln)
c.3162C>A (p.His1054Gln)
c.2931C>A (p.His977Gln)
c.2832C>A (p.His944Gln)
c.2013C>A (p.His671Gln)
n.3564C>A
13g.51942454T>ACA388028193ATP7Bc.*994A>T (n.*994A>T)
c.*2088A>T (n.*2088A>T)
c.2723A>T (p.His908Leu)
c.3344A>T (p.His1115Leu)
c.3011A>T (p.His1004Leu)
c.3092A>T (p.His1031Leu)
c.3110A>T (p.His1037Leu)
n.3483A>T
n.3707A>T
c.2279A>T (p.His760Leu)
c.2054A>T (p.His685Leu)
c.3149A>T (p.His1050Leu)
c.1122A>T
c.*445A>T (n.*445A>T)
n.4088A>T
n.2689A>T
c.3200A>T (p.His1067Leu)
c.3248A>T (p.His1083Leu)
c.3308A>T (p.His1103Leu)
c.2858A>T (p.His953Leu)
c.1160A>T (p.His387Leu)
c.977A>T (p.His326Leu)
c.3209A>T (p.His1070Leu)
c.3161A>T (p.His1054Leu)
c.2930A>T (p.His977Leu)
c.2831A>T (p.His944Leu)
c.2012A>T (p.His671Leu)
n.3563A>T
13g.51942454T>CCA6988730ATP7Bc.*994A>G (n.*994A>G)
c.*2088A>G (n.*2088A>G)
c.2723A>G (p.His908Arg)
c.3344A>G (p.His1115Arg)
c.3011A>G (p.His1004Arg)
c.3092A>G (p.His1031Arg)
c.3110A>G (p.His1037Arg)
n.3483A>G
n.3707A>G
c.2279A>G (p.His760Arg)
c.2054A>G (p.His685Arg)
c.3149A>G (p.His1050Arg)
c.1122A>G
c.*445A>G (n.*445A>G)
n.4088A>G
n.2689A>G
c.3200A>G (p.His1067Arg)
c.3248A>G (p.His1083Arg)
c.3308A>G (p.His1103Arg)
c.2858A>G (p.His953Arg)
c.1160A>G (p.His387Arg)
c.977A>G (p.His326Arg)
c.3209A>G (p.His1070Arg)
c.3161A>G (p.His1054Arg)
c.2930A>G (p.His977Arg)
c.2831A>G (p.His944Arg)
c.2012A>G (p.His671Arg)
n.3563A>G
 dbSNP ExAC gnomAD v2
13g.51942454T>GCA388028198ATP7Bc.*994A>C (n.*994A>C)
c.*2088A>C (n.*2088A>C)
c.2723A>C (p.His908Pro)
c.3344A>C (p.His1115Pro)
c.3011A>C (p.His1004Pro)
c.3092A>C (p.His1031Pro)
c.3110A>C (p.His1037Pro)
n.3483A>C
n.3707A>C
c.2279A>C (p.His760Pro)
c.2054A>C (p.His685Pro)
c.3149A>C (p.His1050Pro)
c.1122A>C
c.*445A>C (n.*445A>C)
n.4088A>C
n.2689A>C
c.3200A>C (p.His1067Pro)
c.3248A>C (p.His1083Pro)
c.3308A>C (p.His1103Pro)
c.2858A>C (p.His953Pro)
c.1160A>C (p.His387Pro)
c.977A>C (p.His326Pro)
c.3209A>C (p.His1070Pro)
c.3161A>C (p.His1054Pro)
c.2930A>C (p.His977Pro)
c.2831A>C (p.His944Pro)
c.2012A>C (p.His671Pro)
n.3563A>C
13g.51942454T=CA2091561432ATP7Bc.*994A= (n.*994A=)
c.*2088A= (n.*2088A=)
c.2723A= (p.His908=)
c.3344A= (p.His1115=)
c.3011A= (p.His1004=)
c.3092A= (p.His1031=)
c.3110A= (p.His1037=)
n.3483A=
n.3707A=
c.2279A= (p.His760=)
c.2054A= (p.His685=)
c.3149A= (p.His1050=)
c.1122A=
c.*445A= (n.*445A=)
n.4088A=
n.2689A=
c.3200A= (p.His1067=)
c.3248A= (p.His1083=)
c.3308A= (p.His1103=)
c.2858A= (p.His953=)
c.1160A= (p.His387=)
c.977A= (p.His326=)
c.3209A= (p.His1070=)
c.3161A= (p.His1054=)
c.2930A= (p.His977=)
c.2831A= (p.His944=)
c.2012A= (p.His671=)
n.3563A=
13g.51942455G>ACA388028204ATP7Bc.*993C>T (n.*993C>T)
c.*2087C>T (n.*2087C>T)
c.2722C>T (p.His908Tyr)
c.3343C>T (p.His1115Tyr)
c.3010C>T (p.His1004Tyr)
c.3091C>T (p.His1031Tyr)
c.3109C>T (p.His1037Tyr)
n.3482C>T
n.3706C>T
c.2278C>T (p.His760Tyr)
c.2053C>T (p.His685Tyr)
c.3148C>T (p.His1050Tyr)
c.1121C>T
c.*444C>T (n.*444C>T)
n.4087C>T
n.2688C>T
c.3199C>T (p.His1067Tyr)
c.3247C>T (p.His1083Tyr)
c.3307C>T (p.His1103Tyr)
c.2857C>T (p.His953Tyr)
c.1159C>T (p.His387Tyr)
c.976C>T (p.His326Tyr)
c.3208C>T (p.His1070Tyr)
c.3160C>T (p.His1054Tyr)
c.2929C>T (p.His977Tyr)
c.2830C>T (p.His944Tyr)
c.2011C>T (p.His671Tyr)
n.3562C>T
13g.51942455G>CCA388028209ATP7Bc.*993C>G (n.*993C>G)
c.*2087C>G (n.*2087C>G)
c.2722C>G (p.His908Asp)
c.3343C>G (p.His1115Asp)
c.3010C>G (p.His1004Asp)
c.3091C>G (p.His1031Asp)
c.3109C>G (p.His1037Asp)
n.3482C>G
n.3706C>G
c.2278C>G (p.His760Asp)
c.2053C>G (p.His685Asp)
c.3148C>G (p.His1050Asp)
c.1121C>G
c.*444C>G (n.*444C>G)
n.4087C>G
n.2688C>G
c.3199C>G (p.His1067Asp)
c.3247C>G (p.His1083Asp)
c.3307C>G (p.His1103Asp)
c.2857C>G (p.His953Asp)
c.1159C>G (p.His387Asp)
c.976C>G (p.His326Asp)
c.3208C>G (p.His1070Asp)
c.3160C>G (p.His1054Asp)
c.2929C>G (p.His977Asp)
c.2830C>G (p.His944Asp)
c.2011C>G (p.His671Asp)
n.3562C>G
13g.51942455G>TCA388028206ATP7Bc.*993C>A (n.*993C>A)
c.*2087C>A (n.*2087C>A)
c.2722C>A (p.His908Asn)
c.3343C>A (p.His1115Asn)
c.3010C>A (p.His1004Asn)
c.3091C>A (p.His1031Asn)
c.3109C>A (p.His1037Asn)
n.3482C>A
n.3706C>A
c.2278C>A (p.His760Asn)
c.2053C>A (p.His685Asn)
c.3148C>A (p.His1050Asn)
c.1121C>A
c.*444C>A (n.*444C>A)
n.4087C>A
n.2688C>A
c.3199C>A (p.His1067Asn)
c.3247C>A (p.His1083Asn)
c.3307C>A (p.His1103Asn)
c.2857C>A (p.His953Asn)
c.1159C>A (p.His387Asn)
c.976C>A (p.His326Asn)
c.3208C>A (p.His1070Asn)
c.3160C>A (p.His1054Asn)
c.2929C>A (p.His977Asn)
c.2830C>A (p.His944Asn)
c.2011C>A (p.His671Asn)
n.3562C>A
13g.51942456G>ACA6988731ATP7Bc.*992C>T (n.*992C>T)
c.*2086C>T (n.*2086C>T)
c.2721C>T (p.Ala907=)
c.3342C>T (p.Ala1114=)
c.3009C>T (p.Ala1003=)
c.3090C>T (p.Ala1030=)
c.3108C>T (p.Ala1036=)
n.3481C>T
n.3705C>T
c.2277C>T (p.Ala759=)
c.2052C>T (p.Ala684=)
c.3147C>T (p.Ala1049=)
c.1120C>T
c.*443C>T (n.*443C>T)
n.4086C>T
n.2687C>T
c.3198C>T (p.Ala1066=)
c.3246C>T (p.Ala1082=)
c.3306C>T (p.Ala1102=)
c.2856C>T (p.Ala952=)
c.1158C>T (p.Ala386=)
c.975C>T (p.Ala325=)
c.3207C>T (p.Ala1069=)
c.3159C>T (p.Ala1053=)
c.2928C>T (p.Ala976=)
c.2829C>T (p.Ala943=)
c.2010C>T (p.Ala670=)
n.3561C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51942456G>CCA483894383ATP7Bc.*992C>G (n.*992C>G)
c.*2086C>G (n.*2086C>G)
c.2721C>G (p.Ala907=)
c.3342C>G (p.Ala1114=)
c.3009C>G (p.Ala1003=)
c.3090C>G (p.Ala1030=)
c.3108C>G (p.Ala1036=)
n.3481C>G
n.3705C>G
c.2277C>G (p.Ala759=)
c.2052C>G (p.Ala684=)
c.3147C>G (p.Ala1049=)
c.1120C>G
c.*443C>G (n.*443C>G)
n.4086C>G
n.2687C>G
c.3198C>G (p.Ala1066=)
c.3246C>G (p.Ala1082=)
c.3306C>G (p.Ala1102=)
c.2856C>G (p.Ala952=)
c.1158C>G (p.Ala386=)
c.975C>G (p.Ala325=)
c.3207C>G (p.Ala1069=)
c.3159C>G (p.Ala1053=)
c.2928C>G (p.Ala976=)
c.2829C>G (p.Ala943=)
c.2010C>G (p.Ala670=)
n.3561C>G
13g.51942456G=CA2091561436ATP7Bc.*992C= (n.*992C=)
c.*2086C= (n.*2086C=)
c.2721C= (p.Ala907=)
c.3342C= (p.Ala1114=)
c.3009C= (p.Ala1003=)
c.3090C= (p.Ala1030=)
c.3108C= (p.Ala1036=)
n.3481C=
n.3705C=
c.2277C= (p.Ala759=)
c.2052C= (p.Ala684=)
c.3147C= (p.Ala1049=)
c.1120C=
c.*443C= (n.*443C=)
n.4086C=
n.2687C=
c.3198C= (p.Ala1066=)
c.3246C= (p.Ala1082=)
c.3306C= (p.Ala1102=)
c.2856C= (p.Ala952=)
c.1158C= (p.Ala386=)
c.975C= (p.Ala325=)
c.3207C= (p.Ala1069=)
c.3159C= (p.Ala1053=)
c.2928C= (p.Ala976=)
c.2829C= (p.Ala943=)
c.2010C= (p.Ala670=)
n.3561C=
13g.51942456G>TCA483894381ATP7Bc.*992C>A (n.*992C>A)
c.*2086C>A (n.*2086C>A)
c.2721C>A (p.Ala907=)
c.3342C>A (p.Ala1114=)
c.3009C>A (p.Ala1003=)
c.3090C>A (p.Ala1030=)
c.3108C>A (p.Ala1036=)
n.3481C>A
n.3705C>A
c.2277C>A (p.Ala759=)
c.2052C>A (p.Ala684=)
c.3147C>A (p.Ala1049=)
c.1120C>A
c.*443C>A (n.*443C>A)
n.4086C>A
n.2687C>A
c.3198C>A (p.Ala1066=)
c.3246C>A (p.Ala1082=)
c.3306C>A (p.Ala1102=)
c.2856C>A (p.Ala952=)
c.1158C>A (p.Ala386=)
c.975C>A (p.Ala325=)
c.3207C>A (p.Ala1069=)
c.3159C>A (p.Ala1053=)
c.2928C>A (p.Ala976=)
c.2829C>A (p.Ala943=)
c.2010C>A (p.Ala670=)
n.3561C>A
13g.51942457G>ACA388028212ATP7Bc.*991C>T (n.*991C>T)
c.*2085C>T (n.*2085C>T)
c.2720C>T (p.Ala907Val)
c.3341C>T (p.Ala1114Val)
c.3008C>T (p.Ala1003Val)
c.3089C>T (p.Ala1030Val)
c.3107C>T (p.Ala1036Val)
n.3480C>T
n.3704C>T
c.2276C>T (p.Ala759Val)
c.2051C>T (p.Ala684Val)
c.3146C>T (p.Ala1049Val)
c.1119C>T
c.*442C>T (n.*442C>T)
n.4085C>T
n.2686C>T
c.3197C>T (p.Ala1066Val)
c.3245C>T (p.Ala1082Val)
c.3305C>T (p.Ala1102Val)
c.2855C>T (p.Ala952Val)
c.1157C>T (p.Ala386Val)
c.974C>T (p.Ala325Val)
c.3206C>T (p.Ala1069Val)
c.3158C>T (p.Ala1053Val)
c.2927C>T (p.Ala976Val)
c.2828C>T (p.Ala943Val)
c.2009C>T (p.Ala670Val)
n.3560C>T
 ClinVar dbSNP
13g.51942457G>CCA388028217ATP7Bc.*991C>G (n.*991C>G)
c.*2085C>G (n.*2085C>G)
c.2720C>G (p.Ala907Gly)
c.3341C>G (p.Ala1114Gly)
c.3008C>G (p.Ala1003Gly)
c.3089C>G (p.Ala1030Gly)
c.3107C>G (p.Ala1036Gly)
n.3480C>G
n.3704C>G
c.2276C>G (p.Ala759Gly)
c.2051C>G (p.Ala684Gly)
c.3146C>G (p.Ala1049Gly)
c.1119C>G
c.*442C>G (n.*442C>G)
n.4085C>G
n.2686C>G
c.3197C>G (p.Ala1066Gly)
c.3245C>G (p.Ala1082Gly)
c.3305C>G (p.Ala1102Gly)
c.2855C>G (p.Ala952Gly)
c.1157C>G (p.Ala386Gly)
c.974C>G (p.Ala325Gly)
c.3206C>G (p.Ala1069Gly)
c.3158C>G (p.Ala1053Gly)
c.2927C>G (p.Ala976Gly)
c.2828C>G (p.Ala943Gly)
c.2009C>G (p.Ala670Gly)
n.3560C>G
13g.51942457G>TCA388028228ATP7Bc.*991C>A (n.*991C>A)
c.*2085C>A (n.*2085C>A)
c.2720C>A (p.Ala907Asp)
c.3341C>A (p.Ala1114Asp)
c.3008C>A (p.Ala1003Asp)
c.3089C>A (p.Ala1030Asp)
c.3107C>A (p.Ala1036Asp)
n.3480C>A
n.3704C>A
c.2276C>A (p.Ala759Asp)
c.2051C>A (p.Ala684Asp)
c.3146C>A (p.Ala1049Asp)
c.1119C>A
c.*442C>A (n.*442C>A)
n.4085C>A
n.2686C>A
c.3197C>A (p.Ala1066Asp)
c.3245C>A (p.Ala1082Asp)
c.3305C>A (p.Ala1102Asp)
c.2855C>A (p.Ala952Asp)
c.1157C>A (p.Ala386Asp)
c.974C>A (p.Ala325Asp)
c.3206C>A (p.Ala1069Asp)
c.3158C>A (p.Ala1053Asp)
c.2927C>A (p.Ala976Asp)
c.2828C>A (p.Ala943Asp)
c.2009C>A (p.Ala670Asp)
n.3560C>A
13g.51942458C>ACA388028230ATP7Bc.*990G>T (n.*990G>T)
c.*2084G>T (n.*2084G>T)
c.2719G>T (p.Ala907Ser)
c.3340G>T (p.Ala1114Ser)
c.3007G>T (p.Ala1003Ser)
c.3088G>T (p.Ala1030Ser)
c.3106G>T (p.Ala1036Ser)
n.3479G>T
n.3703G>T
c.2275G>T (p.Ala759Ser)
c.2050G>T (p.Ala684Ser)
c.3145G>T (p.Ala1049Ser)
c.1118G>T
c.*441G>T (n.*441G>T)
n.4084G>T
n.2685G>T
c.3196G>T (p.Ala1066Ser)
c.3244G>T (p.Ala1082Ser)
c.3304G>T (p.Ala1102Ser)
c.2854G>T (p.Ala952Ser)
c.1156G>T (p.Ala386Ser)
c.973G>T (p.Ala325Ser)
c.3205G>T (p.Ala1069Ser)
c.3157G>T (p.Ala1053Ser)
c.2926G>T (p.Ala976Ser)
c.2827G>T (p.Ala943Ser)
c.2008G>T (p.Ala670Ser)
n.3559G>T
13g.51942458C=CA2091561441ATP7Bc.*990G= (n.*990G=)
c.*2084G= (n.*2084G=)
c.2719G= (p.Ala907=)
c.3340G= (p.Ala1114=)
c.3007G= (p.Ala1003=)
c.3088G= (p.Ala1030=)
c.3106G= (p.Ala1036=)
n.3479G=
n.3703G=
c.2275G= (p.Ala759=)
c.2050G= (p.Ala684=)
c.3145G= (p.Ala1049=)
c.1118G=
c.*441G= (n.*441G=)
n.4084G=
n.2685G=
c.3196G= (p.Ala1066=)
c.3244G= (p.Ala1082=)
c.3304G= (p.Ala1102=)
c.2854G= (p.Ala952=)
c.1156G= (p.Ala386=)
c.973G= (p.Ala325=)
c.3205G= (p.Ala1069=)
c.3157G= (p.Ala1053=)
c.2926G= (p.Ala976=)
c.2827G= (p.Ala943=)
c.2008G= (p.Ala670=)
n.3559G=
13g.51942458C>GCA388028233ATP7Bc.*990G>C (n.*990G>C)
c.*2084G>C (n.*2084G>C)
c.2719G>C (p.Ala907Pro)
c.3340G>C (p.Ala1114Pro)
c.3007G>C (p.Ala1003Pro)
c.3088G>C (p.Ala1030Pro)
c.3106G>C (p.Ala1036Pro)
n.3479G>C
n.3703G>C
c.2275G>C (p.Ala759Pro)
c.2050G>C (p.Ala684Pro)
c.3145G>C (p.Ala1049Pro)
c.1118G>C
c.*441G>C (n.*441G>C)
n.4084G>C
n.2685G>C
c.3196G>C (p.Ala1066Pro)
c.3244G>C (p.Ala1082Pro)
c.3304G>C (p.Ala1102Pro)
c.2854G>C (p.Ala952Pro)
c.1156G>C (p.Ala386Pro)
c.973G>C (p.Ala325Pro)
c.3205G>C (p.Ala1069Pro)
c.3157G>C (p.Ala1053Pro)
c.2926G>C (p.Ala976Pro)
c.2827G>C (p.Ala943Pro)
c.2008G>C (p.Ala670Pro)
n.3559G>C
13g.51942458C>TCA6988732ATP7Bc.*990G>A (n.*990G>A)
c.*2084G>A (n.*2084G>A)
c.2719G>A (p.Ala907Thr)
c.3340G>A (p.Ala1114Thr)
c.3007G>A (p.Ala1003Thr)
c.3088G>A (p.Ala1030Thr)
c.3106G>A (p.Ala1036Thr)
n.3479G>A
n.3703G>A
c.2275G>A (p.Ala759Thr)
c.2050G>A (p.Ala684Thr)
c.3145G>A (p.Ala1049Thr)
c.1118G>A
c.*441G>A (n.*441G>A)
n.4084G>A
n.2685G>A
c.3196G>A (p.Ala1066Thr)
c.3244G>A (p.Ala1082Thr)
c.3304G>A (p.Ala1102Thr)
c.2854G>A (p.Ala952Thr)
c.1156G>A (p.Ala386Thr)
c.973G>A (p.Ala325Thr)
c.3205G>A (p.Ala1069Thr)
c.3157G>A (p.Ala1053Thr)
c.2926G>A (p.Ala976Thr)
c.2827G>A (p.Ala943Thr)
c.2008G>A (p.Ala670Thr)
n.3559G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51942459C>ACA483894387ATP7Bc.*989G>T (n.*989G>T)
c.*2083G>T (n.*2083G>T)
c.2718G>T (p.Leu906=)
c.3339G>T (p.Leu1113=)
c.3006G>T (p.Leu1002=)
c.3087G>T (p.Leu1029=)
c.3105G>T (p.Leu1035=)
n.3478G>T
n.3702G>T
c.2274G>T (p.Leu758=)
c.2049G>T (p.Leu683=)
c.3144G>T (p.Leu1048=)
c.1117G>T
c.*440G>T (n.*440G>T)
n.4083G>T
n.2684G>T
c.3195G>T (p.Leu1065=)
c.3243G>T (p.Leu1081=)
c.3303G>T (p.Leu1101=)
c.2853G>T (p.Leu951=)
c.1155G>T (p.Leu385=)
c.972G>T (p.Leu324=)
c.3204G>T (p.Leu1068=)
c.3156G>T (p.Leu1052=)
c.2925G>T (p.Leu975=)
c.2826G>T (p.Leu942=)
c.2007G>T (p.Leu669=)
n.3558G>T
13g.51942459C>GCA483894388ATP7Bc.*989G>C (n.*989G>C)
c.*2083G>C (n.*2083G>C)
c.2718G>C (p.Leu906=)
c.3339G>C (p.Leu1113=)
c.3006G>C (p.Leu1002=)
c.3087G>C (p.Leu1029=)
c.3105G>C (p.Leu1035=)
n.3478G>C
n.3702G>C
c.2274G>C (p.Leu758=)
c.2049G>C (p.Leu683=)
c.3144G>C (p.Leu1048=)
c.1117G>C
c.*440G>C (n.*440G>C)
n.4083G>C
n.2684G>C
c.3195G>C (p.Leu1065=)
c.3243G>C (p.Leu1081=)
c.3303G>C (p.Leu1101=)
c.2853G>C (p.Leu951=)
c.1155G>C (p.Leu385=)
c.972G>C (p.Leu324=)
c.3204G>C (p.Leu1068=)
c.3156G>C (p.Leu1052=)
c.2925G>C (p.Leu975=)
c.2826G>C (p.Leu942=)
c.2007G>C (p.Leu669=)
n.3558G>C
13g.51942459C>TCA483894389ATP7Bc.*989G>A (n.*989G>A)
c.*2083G>A (n.*2083G>A)
c.2718G>A (p.Leu906=)
c.3339G>A (p.Leu1113=)
c.3006G>A (p.Leu1002=)
c.3087G>A (p.Leu1029=)
c.3105G>A (p.Leu1035=)
n.3478G>A
n.3702G>A
c.2274G>A (p.Leu758=)
c.2049G>A (p.Leu683=)
c.3144G>A (p.Leu1048=)
c.1117G>A
c.*440G>A (n.*440G>A)
n.4083G>A
n.2684G>A
c.3195G>A (p.Leu1065=)
c.3243G>A (p.Leu1081=)
c.3303G>A (p.Leu1101=)
c.2853G>A (p.Leu951=)
c.1155G>A (p.Leu385=)
c.972G>A (p.Leu324=)
c.3204G>A (p.Leu1068=)
c.3156G>A (p.Leu1052=)
c.2925G>A (p.Leu975=)
c.2826G>A (p.Leu942=)
c.2007G>A (p.Leu669=)
n.3558G>A
13g.51942460A>CCA388028241ATP7Bc.*988T>G (n.*988T>G)
c.*2082T>G (n.*2082T>G)
c.2717T>G (p.Leu906Arg)
c.3338T>G (p.Leu1113Arg)
c.3005T>G (p.Leu1002Arg)
c.3086T>G (p.Leu1029Arg)
c.3104T>G (p.Leu1035Arg)
n.3477T>G
n.3701T>G
c.2273T>G (p.Leu758Arg)
c.2048T>G (p.Leu683Arg)
c.3143T>G (p.Leu1048Arg)
c.1116T>G
c.*439T>G (n.*439T>G)
n.4082T>G
n.2683T>G
c.3194T>G (p.Leu1065Arg)
c.3242T>G (p.Leu1081Arg)
c.3302T>G (p.Leu1101Arg)
c.2852T>G (p.Leu951Arg)
c.1154T>G (p.Leu385Arg)
c.971T>G (p.Leu324Arg)
c.3203T>G (p.Leu1068Arg)
c.3155T>G (p.Leu1052Arg)
c.2924T>G (p.Leu975Arg)
c.2825T>G (p.Leu942Arg)
c.2006T>G (p.Leu669Arg)
n.3557T>G
13g.51942460A>GCA388028253ATP7Bc.*988T>C (n.*988T>C)
c.*2082T>C (n.*2082T>C)
c.2717T>C (p.Leu906Pro)
c.3338T>C (p.Leu1113Pro)
c.3005T>C (p.Leu1002Pro)
c.3086T>C (p.Leu1029Pro)
c.3104T>C (p.Leu1035Pro)
n.3477T>C
n.3701T>C
c.2273T>C (p.Leu758Pro)
c.2048T>C (p.Leu683Pro)
c.3143T>C (p.Leu1048Pro)
c.1116T>C
c.*439T>C (n.*439T>C)
n.4082T>C
n.2683T>C
c.3194T>C (p.Leu1065Pro)
c.3242T>C (p.Leu1081Pro)
c.3302T>C (p.Leu1101Pro)
c.2852T>C (p.Leu951Pro)
c.1154T>C (p.Leu385Pro)
c.971T>C (p.Leu324Pro)
c.3203T>C (p.Leu1068Pro)
c.3155T>C (p.Leu1052Pro)
c.2924T>C (p.Leu975Pro)
c.2825T>C (p.Leu942Pro)
c.2006T>C (p.Leu669Pro)
n.3557T>C
13g.51942460A>TCA388028250ATP7Bc.*988T>A (n.*988T>A)
c.*2082T>A (n.*2082T>A)
c.2717T>A (p.Leu906Gln)
c.3338T>A (p.Leu1113Gln)
c.3005T>A (p.Leu1002Gln)
c.3086T>A (p.Leu1029Gln)
c.3104T>A (p.Leu1035Gln)
n.3477T>A
n.3701T>A
c.2273T>A (p.Leu758Gln)
c.2048T>A (p.Leu683Gln)
c.3143T>A (p.Leu1048Gln)
c.1116T>A
c.*439T>A (n.*439T>A)
n.4082T>A
n.2683T>A
c.3194T>A (p.Leu1065Gln)
c.3242T>A (p.Leu1081Gln)
c.3302T>A (p.Leu1101Gln)
c.2852T>A (p.Leu951Gln)
c.1154T>A (p.Leu385Gln)
c.971T>A (p.Leu324Gln)
c.3203T>A (p.Leu1068Gln)
c.3155T>A (p.Leu1052Gln)
c.2924T>A (p.Leu975Gln)
c.2825T>A (p.Leu942Gln)
c.2006T>A (p.Leu669Gln)
n.3557T>A
13g.51942461G>ACA483894391ATP7Bc.*987C>T (n.*987C>T)
c.*2081C>T (n.*2081C>T)
c.2716C>T (p.Leu906=)
c.3337C>T (p.Leu1113=)
c.3004C>T (p.Leu1002=)
c.3085C>T (p.Leu1029=)
c.3103C>T (p.Leu1035=)
n.3476C>T
n.3700C>T
c.2272C>T (p.Leu758=)
c.2047C>T (p.Leu683=)
c.3142C>T (p.Leu1048=)
c.1115C>T
c.*438C>T (n.*438C>T)
n.4081C>T
n.2682C>T
c.3193C>T (p.Leu1065=)
c.3241C>T (p.Leu1081=)
c.3301C>T (p.Leu1101=)
c.2851C>T (p.Leu951=)
c.1153C>T (p.Leu385=)
c.970C>T (p.Leu324=)
c.3202C>T (p.Leu1068=)
c.3154C>T (p.Leu1052=)
c.2923C>T (p.Leu975=)
c.2824C>T (p.Leu942=)
c.2005C>T (p.Leu669=)
n.3556C>T
 dbSNP
13g.51942461G>CCA388028256ATP7Bc.*987C>G (n.*987C>G)
c.*2081C>G (n.*2081C>G)
c.2716C>G (p.Leu906Val)
c.3337C>G (p.Leu1113Val)
c.3004C>G (p.Leu1002Val)
c.3085C>G (p.Leu1029Val)
c.3103C>G (p.Leu1035Val)
n.3476C>G
n.3700C>G
c.2272C>G (p.Leu758Val)
c.2047C>G (p.Leu683Val)
c.3142C>G (p.Leu1048Val)
c.1115C>G
c.*438C>G (n.*438C>G)
n.4081C>G
n.2682C>G
c.3193C>G (p.Leu1065Val)
c.3241C>G (p.Leu1081Val)
c.3301C>G (p.Leu1101Val)
c.2851C>G (p.Leu951Val)
c.1153C>G (p.Leu385Val)
c.970C>G (p.Leu324Val)
c.3202C>G (p.Leu1068Val)
c.3154C>G (p.Leu1052Val)
c.2923C>G (p.Leu975Val)
c.2824C>G (p.Leu942Val)
c.2005C>G (p.Leu669Val)
n.3556C>G
13g.51942461G>TCA388028261ATP7Bc.*987C>A (n.*987C>A)
c.*2081C>A (n.*2081C>A)
c.2716C>A (p.Leu906Met)
c.3337C>A (p.Leu1113Met)
c.3004C>A (p.Leu1002Met)
c.3085C>A (p.Leu1029Met)
c.3103C>A (p.Leu1035Met)
n.3476C>A
n.3700C>A
c.2272C>A (p.Leu758Met)
c.2047C>A (p.Leu683Met)
c.3142C>A (p.Leu1048Met)
c.1115C>A
c.*438C>A (n.*438C>A)
n.4081C>A
n.2682C>A
c.3193C>A (p.Leu1065Met)
c.3241C>A (p.Leu1081Met)
c.3301C>A (p.Leu1101Met)
c.2851C>A (p.Leu951Met)
c.1153C>A (p.Leu385Met)
c.970C>A (p.Leu324Met)
c.3202C>A (p.Leu1068Met)
c.3154C>A (p.Leu1052Met)
c.2923C>A (p.Leu975Met)
c.2824C>A (p.Leu942Met)
c.2005C>A (p.Leu669Met)
n.3556C>A
13g.51942462G>ACA6988733ATP7Bc.*986C>T (n.*986C>T)
c.*2080C>T (n.*2080C>T)
c.2715C>T (p.Ile905=)
c.3336C>T (p.Ile1112=)
c.3003C>T (p.Ile1001=)
c.3084C>T (p.Ile1028=)
c.3102C>T (p.Ile1034=)
n.3475C>T
n.3699C>T
c.2271C>T (p.Ile757=)
c.2046C>T (p.Ile682=)
c.3141C>T (p.Ile1047=)
c.1114C>T
c.*437C>T (n.*437C>T)
n.4080C>T
n.2681C>T
c.3192C>T (p.Ile1064=)
c.3240C>T (p.Ile1080=)
c.3300C>T (p.Ile1100=)
c.2850C>T (p.Ile950=)
c.1152C>T (p.Ile384=)
c.969C>T (p.Ile323=)
c.3201C>T (p.Ile1067=)
c.3153C>T (p.Ile1051=)
c.2922C>T (p.Ile974=)
c.2823C>T (p.Ile941=)
c.2004C>T (p.Ile668=)
n.3555C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51942462G>CCA388028265ATP7Bc.*986C>G (n.*986C>G)
c.*2080C>G (n.*2080C>G)
c.2715C>G (p.Ile905Met)
c.3336C>G (p.Ile1112Met)
c.3003C>G (p.Ile1001Met)
c.3084C>G (p.Ile1028Met)
c.3102C>G (p.Ile1034Met)
n.3475C>G
n.3699C>G
c.2271C>G (p.Ile757Met)
c.2046C>G (p.Ile682Met)
c.3141C>G (p.Ile1047Met)
c.1114C>G
c.*437C>G (n.*437C>G)
n.4080C>G
n.2681C>G
c.3192C>G (p.Ile1064Met)
c.3240C>G (p.Ile1080Met)
c.3300C>G (p.Ile1100Met)
c.2850C>G (p.Ile950Met)
c.1152C>G (p.Ile384Met)
c.969C>G (p.Ile323Met)
c.3201C>G (p.Ile1067Met)
c.3153C>G (p.Ile1051Met)
c.2922C>G (p.Ile974Met)
c.2823C>G (p.Ile941Met)
c.2004C>G (p.Ile668Met)
n.3555C>G
13g.51942462G=CA2091561448ATP7Bc.*986C= (n.*986C=)
c.*2080C= (n.*2080C=)
c.2715C= (p.Ile905=)
c.3336C= (p.Ile1112=)
c.3003C= (p.Ile1001=)
c.3084C= (p.Ile1028=)
c.3102C= (p.Ile1034=)
n.3475C=
n.3699C=
c.2271C= (p.Ile757=)
c.2046C= (p.Ile682=)
c.3141C= (p.Ile1047=)
c.1114C=
c.*437C= (n.*437C=)
n.4080C=
n.2681C=
c.3192C= (p.Ile1064=)
c.3240C= (p.Ile1080=)
c.3300C= (p.Ile1100=)
c.2850C= (p.Ile950=)
c.1152C= (p.Ile384=)
c.969C= (p.Ile323=)
c.3201C= (p.Ile1067=)
c.3153C= (p.Ile1051=)
c.2922C= (p.Ile974=)
c.2823C= (p.Ile941=)
c.2004C= (p.Ile668=)
n.3555C=
13g.51942462G>TCA483894392ATP7Bc.*986C>A (n.*986C>A)
c.*2080C>A (n.*2080C>A)
c.2715C>A (p.Ile905=)
c.3336C>A (p.Ile1112=)
c.3003C>A (p.Ile1001=)
c.3084C>A (p.Ile1028=)
c.3102C>A (p.Ile1034=)
n.3475C>A
n.3699C>A
c.2271C>A (p.Ile757=)
c.2046C>A (p.Ile682=)
c.3141C>A (p.Ile1047=)
c.1114C>A
c.*437C>A (n.*437C>A)
n.4080C>A
n.2681C>A
c.3192C>A (p.Ile1064=)
c.3240C>A (p.Ile1080=)
c.3300C>A (p.Ile1100=)
c.2850C>A (p.Ile950=)
c.1152C>A (p.Ile384=)
c.969C>A (p.Ile323=)
c.3201C>A (p.Ile1067=)
c.3153C>A (p.Ile1051=)
c.2922C>A (p.Ile974=)
c.2823C>A (p.Ile941=)
c.2004C>A (p.Ile668=)
n.3555C>A
13g.51942463A=CA2091561451ATP7Bc.*985T= (n.*985T=)
c.*2079T= (n.*2079T=)
c.2714T= (p.Ile905=)
c.3335T= (p.Ile1112=)
c.3002T= (p.Ile1001=)
c.3083T= (p.Ile1028=)
c.3101T= (p.Ile1034=)
n.3474T=
n.3698T=
c.2270T= (p.Ile757=)
c.2045T= (p.Ile682=)
c.3140T= (p.Ile1047=)
c.1113T=
c.*436T= (n.*436T=)
n.4079T=
n.2680T=
c.3191T= (p.Ile1064=)
c.3239T= (p.Ile1080=)
c.3299T= (p.Ile1100=)
c.2849T= (p.Ile950=)
c.1151T= (p.Ile384=)
c.968T= (p.Ile323=)
c.3200T= (p.Ile1067=)
c.3152T= (p.Ile1051=)
c.2921T= (p.Ile974=)
c.2822T= (p.Ile941=)
c.2003T= (p.Ile668=)
n.3554T=
13g.51942463A>CCA388028269ATP7Bc.*985T>G (n.*985T>G)
c.*2079T>G (n.*2079T>G)
c.2714T>G (p.Ile905Ser)
c.3335T>G (p.Ile1112Ser)
c.3002T>G (p.Ile1001Ser)
c.3083T>G (p.Ile1028Ser)
c.3101T>G (p.Ile1034Ser)
n.3474T>G
n.3698T>G
c.2270T>G (p.Ile757Ser)
c.2045T>G (p.Ile682Ser)
c.3140T>G (p.Ile1047Ser)
c.1113T>G
c.*436T>G (n.*436T>G)
n.4079T>G
n.2680T>G
c.3191T>G (p.Ile1064Ser)
c.3239T>G (p.Ile1080Ser)
c.3299T>G (p.Ile1100Ser)
c.2849T>G (p.Ile950Ser)
c.1151T>G (p.Ile384Ser)
c.968T>G (p.Ile323Ser)
c.3200T>G (p.Ile1067Ser)
c.3152T>G (p.Ile1051Ser)
c.2921T>G (p.Ile974Ser)
c.2822T>G (p.Ile941Ser)
c.2003T>G (p.Ile668Ser)
n.3554T>G
 ClinVar gnomAD v4
13g.51942463A>GCA388028270ATP7Bc.*985T>C (n.*985T>C)
c.*2079T>C (n.*2079T>C)
c.2714T>C (p.Ile905Thr)
c.3335T>C (p.Ile1112Thr)
c.3002T>C (p.Ile1001Thr)
c.3083T>C (p.Ile1028Thr)
c.3101T>C (p.Ile1034Thr)
n.3474T>C
n.3698T>C
c.2270T>C (p.Ile757Thr)
c.2045T>C (p.Ile682Thr)
c.3140T>C (p.Ile1047Thr)
c.1113T>C
c.*436T>C (n.*436T>C)
n.4079T>C
n.2680T>C
c.3191T>C (p.Ile1064Thr)
c.3239T>C (p.Ile1080Thr)
c.3299T>C (p.Ile1100Thr)
c.2849T>C (p.Ile950Thr)
c.1151T>C (p.Ile384Thr)
c.968T>C (p.Ile323Thr)
c.3200T>C (p.Ile1067Thr)
c.3152T>C (p.Ile1051Thr)
c.2921T>C (p.Ile974Thr)
c.2822T>C (p.Ile941Thr)
c.2003T>C (p.Ile668Thr)
n.3554T>C
13g.51942463A>TCA6988734ATP7Bc.*985T>A (n.*985T>A)
c.*2079T>A (n.*2079T>A)
c.2714T>A (p.Ile905Asn)
c.3335T>A (p.Ile1112Asn)
c.3002T>A (p.Ile1001Asn)
c.3083T>A (p.Ile1028Asn)
c.3101T>A (p.Ile1034Asn)
n.3474T>A
n.3698T>A
c.2270T>A (p.Ile757Asn)
c.2045T>A (p.Ile682Asn)
c.3140T>A (p.Ile1047Asn)
c.1113T>A
c.*436T>A (n.*436T>A)
n.4079T>A
n.2680T>A
c.3191T>A (p.Ile1064Asn)
c.3239T>A (p.Ile1080Asn)
c.3299T>A (p.Ile1100Asn)
c.2849T>A (p.Ile950Asn)
c.1151T>A (p.Ile384Asn)
c.968T>A (p.Ile323Asn)
c.3200T>A (p.Ile1067Asn)
c.3152T>A (p.Ile1051Asn)
c.2921T>A (p.Ile974Asn)
c.2822T>A (p.Ile941Asn)
c.2003T>A (p.Ile668Asn)
n.3554T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51942463_51942464delCA2573053841ATP7Bc.*984_*985del (n.*984_*985del)
c.*2078_*2079del (n.*2078_*2079del)
c.2713_2714del (p.Ile905ProfsTer5)
c.3334_3335del (p.Ile1112ProfsTer5)
c.3001_3002del (p.Ile1001ProfsTer5)
c.3082_3083del (p.Ile1028ProfsTer5)
c.3100_3101del (p.Ile1034ProfsTer5)
n.3473_3474del
n.3697_3698del
c.2269_2270del (p.Ile757ProfsTer5)
c.2044_2045del (p.Ile682ProfsTer5)
c.3139_3140del (p.Ile1047ProfsTer5)
c.1112_1113del
c.*435_*436del (n.*435_*436del)
n.4078_4079del
n.2679_2680del
c.3190_3191del (p.Ile1064ProfsTer5)
c.3238_3239del (p.Ile1080ProfsTer5)
c.3298_3299del (p.Ile1100ProfsTer5)
c.2848_2849del (p.Ile950ProfsTer5)
c.1150_1151del (p.Ile384ProfsTer5)
c.967_968del (p.Ile323ProfsTer5)
c.3199_3200del (p.Ile1067ProfsTer5)
c.3151_3152del (p.Ile1051ProfsTer5)
c.2920_2921del (p.Ile974ProfsTer5)
c.2821_2822del (p.Ile941ProfsTer5)
c.2002_2003del (p.Ile668ProfsTer5)
n.3553_3554del
 ClinVar dbSNP
13g.51942464T>ACA388028271ATP7Bc.*984A>T (n.*984A>T)
c.*2078A>T (n.*2078A>T)
c.2713A>T (p.Ile905Phe)
c.3334A>T (p.Ile1112Phe)
c.3001A>T (p.Ile1001Phe)
c.3082A>T (p.Ile1028Phe)
c.3100A>T (p.Ile1034Phe)
n.3473A>T
n.3697A>T
c.2269A>T (p.Ile757Phe)
c.2044A>T (p.Ile682Phe)
c.3139A>T (p.Ile1047Phe)
c.1112A>T
c.*435A>T (n.*435A>T)
n.4078A>T
n.2679A>T
c.3190A>T (p.Ile1064Phe)
c.3238A>T (p.Ile1080Phe)
c.3298A>T (p.Ile1100Phe)
c.2848A>T (p.Ile950Phe)
c.1150A>T (p.Ile384Phe)
c.967A>T (p.Ile323Phe)
c.3199A>T (p.Ile1067Phe)
c.3151A>T (p.Ile1051Phe)
c.2920A>T (p.Ile974Phe)
c.2821A>T (p.Ile941Phe)
c.2002A>T (p.Ile668Phe)
n.3553A>T
 ClinVar dbSNP gnomAD v4
13g.51942464T>CCA6988735ATP7Bc.*984A>G (n.*984A>G)
c.*2078A>G (n.*2078A>G)
c.2713A>G (p.Ile905Val)
c.3334A>G (p.Ile1112Val)
c.3001A>G (p.Ile1001Val)
c.3082A>G (p.Ile1028Val)
c.3100A>G (p.Ile1034Val)
n.3473A>G
n.3697A>G
c.2269A>G (p.Ile757Val)
c.2044A>G (p.Ile682Val)
c.3139A>G (p.Ile1047Val)
c.1112A>G
c.*435A>G (n.*435A>G)
n.4078A>G
n.2679A>G
c.3190A>G (p.Ile1064Val)
c.3238A>G (p.Ile1080Val)
c.3298A>G (p.Ile1100Val)
c.2848A>G (p.Ile950Val)
c.1150A>G (p.Ile384Val)
c.967A>G (p.Ile323Val)
c.3199A>G (p.Ile1067Val)
c.3151A>G (p.Ile1051Val)
c.2920A>G (p.Ile974Val)
c.2821A>G (p.Ile941Val)
c.2002A>G (p.Ile668Val)
n.3553A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51942464T>GCA388028273ATP7Bc.*984A>C (n.*984A>C)
c.*2078A>C (n.*2078A>C)
c.2713A>C (p.Ile905Leu)
c.3334A>C (p.Ile1112Leu)
c.3001A>C (p.Ile1001Leu)
c.3082A>C (p.Ile1028Leu)
c.3100A>C (p.Ile1034Leu)
n.3473A>C
n.3697A>C
c.2269A>C (p.Ile757Leu)
c.2044A>C (p.Ile682Leu)
c.3139A>C (p.Ile1047Leu)
c.1112A>C
c.*435A>C (n.*435A>C)
n.4078A>C
n.2679A>C
c.3190A>C (p.Ile1064Leu)
c.3238A>C (p.Ile1080Leu)
c.3298A>C (p.Ile1100Leu)
c.2848A>C (p.Ile950Leu)
c.1150A>C (p.Ile384Leu)
c.967A>C (p.Ile323Leu)
c.3199A>C (p.Ile1067Leu)
c.3151A>C (p.Ile1051Leu)
c.2920A>C (p.Ile974Leu)
c.2821A>C (p.Ile941Leu)
c.2002A>C (p.Ile668Leu)
n.3553A>C
13g.51942464T=CA2091561454ATP7Bc.*984A= (n.*984A=)
c.*2078A= (n.*2078A=)
c.2713A= (p.Ile905=)
c.3334A= (p.Ile1112=)
c.3001A= (p.Ile1001=)
c.3082A= (p.Ile1028=)
c.3100A= (p.Ile1034=)
n.3473A=
n.3697A=
c.2269A= (p.Ile757=)
c.2044A= (p.Ile682=)
c.3139A= (p.Ile1047=)
c.1112A=
c.*435A= (n.*435A=)
n.4078A=
n.2679A=
c.3190A= (p.Ile1064=)
c.3238A= (p.Ile1080=)
c.3298A= (p.Ile1100=)
c.2848A= (p.Ile950=)
c.1150A= (p.Ile384=)
c.967A= (p.Ile323=)
c.3199A= (p.Ile1067=)
c.3151A= (p.Ile1051=)
c.2920A= (p.Ile974=)
c.2821A= (p.Ile941=)
c.2002A= (p.Ile668=)
n.3553A=
13g.51942465G>ACA483894395ATP7Bc.*983C>T (n.*983C>T)
c.*2077C>T (n.*2077C>T)
c.2712C>T (p.Gly904=)
c.3333C>T (p.Gly1111=)
c.3000C>T (p.Gly1000=)
c.3081C>T (p.Gly1027=)
c.3099C>T (p.Gly1033=)
n.3472C>T
n.3696C>T
c.2268C>T (p.Gly756=)
c.2043C>T (p.Gly681=)
c.3138C>T (p.Gly1046=)
c.1111C>T
c.*434C>T (n.*434C>T)
n.4077C>T
n.2678C>T
c.3189C>T (p.Gly1063=)
c.3237C>T (p.Gly1079=)
c.3297C>T (p.Gly1099=)
c.2847C>T (p.Gly949=)
c.1149C>T (p.Gly383=)
c.966C>T (p.Gly322=)
c.3198C>T (p.Gly1066=)
c.3150C>T (p.Gly1050=)
c.2919C>T (p.Gly973=)
c.2820C>T (p.Gly940=)
c.2001C>T (p.Gly667=)
n.3552C>T
13g.51942465G>CCA483894396ATP7Bc.*983C>G (n.*983C>G)
c.*2077C>G (n.*2077C>G)
c.2712C>G (p.Gly904=)
c.3333C>G (p.Gly1111=)
c.3000C>G (p.Gly1000=)
c.3081C>G (p.Gly1027=)
c.3099C>G (p.Gly1033=)
n.3472C>G
n.3696C>G
c.2268C>G (p.Gly756=)
c.2043C>G (p.Gly681=)
c.3138C>G (p.Gly1046=)
c.1111C>G
c.*434C>G (n.*434C>G)
n.4077C>G
n.2678C>G
c.3189C>G (p.Gly1063=)
c.3237C>G (p.Gly1079=)
c.3297C>G (p.Gly1099=)
c.2847C>G (p.Gly949=)
c.1149C>G (p.Gly383=)
c.966C>G (p.Gly322=)
c.3198C>G (p.Gly1066=)
c.3150C>G (p.Gly1050=)
c.2919C>G (p.Gly973=)
c.2820C>G (p.Gly940=)
c.2001C>G (p.Gly667=)
n.3552C>G
13g.51942465G>TCA483894397ATP7Bc.*983C>A (n.*983C>A)
c.*2077C>A (n.*2077C>A)
c.2712C>A (p.Gly904=)
c.3333C>A (p.Gly1111=)
c.3000C>A (p.Gly1000=)
c.3081C>A (p.Gly1027=)
c.3099C>A (p.Gly1033=)
n.3472C>A
n.3696C>A
c.2268C>A (p.Gly756=)
c.2043C>A (p.Gly681=)
c.3138C>A (p.Gly1046=)
c.1111C>A
c.*434C>A (n.*434C>A)
n.4077C>A
n.2678C>A
c.3189C>A (p.Gly1063=)
c.3237C>A (p.Gly1079=)
c.3297C>A (p.Gly1099=)
c.2847C>A (p.Gly949=)
c.1149C>A (p.Gly383=)
c.966C>A (p.Gly322=)
c.3198C>A (p.Gly1066=)
c.3150C>A (p.Gly1050=)
c.2919C>A (p.Gly973=)
c.2820C>A (p.Gly940=)
c.2001C>A (p.Gly667=)
n.3552C>A
13g.51942466C>ACA388028276ATP7Bc.*982G>T (n.*982G>T)
c.*2076G>T (n.*2076G>T)
c.2711G>T (p.Gly904Val)
c.3332G>T (p.Gly1111Val)
c.2999G>T (p.Gly1000Val)
c.3080G>T (p.Gly1027Val)
c.3098G>T (p.Gly1033Val)
n.3471G>T
n.3695G>T
c.2267G>T (p.Gly756Val)
c.2042G>T (p.Gly681Val)
c.3137G>T (p.Gly1046Val)
c.1110G>T
c.*433G>T (n.*433G>T)
n.4076G>T
n.2677G>T
c.3188G>T (p.Gly1063Val)
c.3236G>T (p.Gly1079Val)
c.3296G>T (p.Gly1099Val)
c.2846G>T (p.Gly949Val)
c.1148G>T (p.Gly383Val)
c.965G>T (p.Gly322Val)
c.3197G>T (p.Gly1066Val)
c.3149G>T (p.Gly1050Val)
c.2918G>T (p.Gly973Val)
c.2819G>T (p.Gly940Val)
c.2000G>T (p.Gly667Val)
n.3551G>T
 ClinVar gnomAD v4
13g.51942466C=CA2091561460ATP7Bc.*982G= (n.*982G=)
c.*2076G= (n.*2076G=)
c.2711G= (p.Gly904=)
c.3332G= (p.Gly1111=)
c.2999G= (p.Gly1000=)
c.3080G= (p.Gly1027=)
c.3098G= (p.Gly1033=)
n.3471G=
n.3695G=
c.2267G= (p.Gly756=)
c.2042G= (p.Gly681=)
c.3137G= (p.Gly1046=)
c.1110G=
c.*433G= (n.*433G=)
n.4076G=
n.2677G=
c.3188G= (p.Gly1063=)
c.3236G= (p.Gly1079=)
c.3296G= (p.Gly1099=)
c.2846G= (p.Gly949=)
c.1148G= (p.Gly383=)
c.965G= (p.Gly322=)
c.3197G= (p.Gly1066=)
c.3149G= (p.Gly1050=)
c.2918G= (p.Gly973=)
c.2819G= (p.Gly940=)
c.2000G= (p.Gly667=)
n.3551G=
13g.51942466C>GCA388028281ATP7Bc.*982G>C (n.*982G>C)
c.*2076G>C (n.*2076G>C)
c.2711G>C (p.Gly904Ala)
c.3332G>C (p.Gly1111Ala)
c.2999G>C (p.Gly1000Ala)
c.3080G>C (p.Gly1027Ala)
c.3098G>C (p.Gly1033Ala)
n.3471G>C
n.3695G>C
c.2267G>C (p.Gly756Ala)
c.2042G>C (p.Gly681Ala)
c.3137G>C (p.Gly1046Ala)
c.1110G>C
c.*433G>C (n.*433G>C)
n.4076G>C
n.2677G>C
c.3188G>C (p.Gly1063Ala)
c.3236G>C (p.Gly1079Ala)
c.3296G>C (p.Gly1099Ala)
c.2846G>C (p.Gly949Ala)
c.1148G>C (p.Gly383Ala)
c.965G>C (p.Gly322Ala)
c.3197G>C (p.Gly1066Ala)
c.3149G>C (p.Gly1050Ala)
c.2918G>C (p.Gly973Ala)
c.2819G>C (p.Gly940Ala)
c.2000G>C (p.Gly667Ala)
n.3551G>C
 gnomAD v4
13g.51942466C>TCA6988736ATP7Bc.*982G>A (n.*982G>A)
c.*2076G>A (n.*2076G>A)
c.2711G>A (p.Gly904Asp)
c.3332G>A (p.Gly1111Asp)
c.2999G>A (p.Gly1000Asp)
c.3080G>A (p.Gly1027Asp)
c.3098G>A (p.Gly1033Asp)
n.3471G>A
n.3695G>A
c.2267G>A (p.Gly756Asp)
c.2042G>A (p.Gly681Asp)
c.3137G>A (p.Gly1046Asp)
c.1110G>A
c.*433G>A (n.*433G>A)
n.4076G>A
n.2677G>A
c.3188G>A (p.Gly1063Asp)
c.3236G>A (p.Gly1079Asp)
c.3296G>A (p.Gly1099Asp)
c.2846G>A (p.Gly949Asp)
c.1148G>A (p.Gly383Asp)
c.965G>A (p.Gly322Asp)
c.3197G>A (p.Gly1066Asp)
c.3149G>A (p.Gly1050Asp)
c.2918G>A (p.Gly973Asp)
c.2819G>A (p.Gly940Asp)
c.2000G>A (p.Gly667Asp)
n.3551G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51942467C>ACA388028291ATP7Bc.*981G>T (n.*981G>T)
c.*2075G>T (n.*2075G>T)
c.2710G>T (p.Gly904Cys)
c.3331G>T (p.Gly1111Cys)
c.2998G>T (p.Gly1000Cys)
c.3079G>T (p.Gly1027Cys)
c.3097G>T (p.Gly1033Cys)
n.3470G>T
n.3694G>T
c.2266G>T (p.Gly756Cys)
c.2041G>T (p.Gly681Cys)
c.3136G>T (p.Gly1046Cys)
c.1109G>T
c.*432G>T (n.*432G>T)
n.4075G>T
n.2676G>T
c.3187G>T (p.Gly1063Cys)
c.3235G>T (p.Gly1079Cys)
c.3295G>T (p.Gly1099Cys)
c.2845G>T (p.Gly949Cys)
c.1147G>T (p.Gly383Cys)
c.964G>T (p.Gly322Cys)
c.3196G>T (p.Gly1066Cys)
c.3148G>T (p.Gly1050Cys)
c.2917G>T (p.Gly973Cys)
c.2818G>T (p.Gly940Cys)
c.1999G>T (p.Gly667Cys)
n.3550G>T
13g.51942467C>GCA388028292ATP7Bc.*981G>C (n.*981G>C)
c.*2075G>C (n.*2075G>C)
c.2710G>C (p.Gly904Arg)
c.3331G>C (p.Gly1111Arg)
c.2998G>C (p.Gly1000Arg)
c.3079G>C (p.Gly1027Arg)
c.3097G>C (p.Gly1033Arg)
n.3470G>C
n.3694G>C
c.2266G>C (p.Gly756Arg)
c.2041G>C (p.Gly681Arg)
c.3136G>C (p.Gly1046Arg)
c.1109G>C
c.*432G>C (n.*432G>C)
n.4075G>C
n.2676G>C
c.3187G>C (p.Gly1063Arg)
c.3235G>C (p.Gly1079Arg)
c.3295G>C (p.Gly1099Arg)
c.2845G>C (p.Gly949Arg)
c.1147G>C (p.Gly383Arg)
c.964G>C (p.Gly322Arg)
c.3196G>C (p.Gly1066Arg)
c.3148G>C (p.Gly1050Arg)
c.2917G>C (p.Gly973Arg)
c.2818G>C (p.Gly940Arg)
c.1999G>C (p.Gly667Arg)
n.3550G>C
13g.51942467C>TCA388028293ATP7Bc.*981G>A (n.*981G>A)
c.*2075G>A (n.*2075G>A)
c.2710G>A (p.Gly904Ser)
c.3331G>A (p.Gly1111Ser)
c.2998G>A (p.Gly1000Ser)
c.3079G>A (p.Gly1027Ser)
c.3097G>A (p.Gly1033Ser)
n.3470G>A
n.3694G>A
c.2266G>A (p.Gly756Ser)
c.2041G>A (p.Gly681Ser)
c.3136G>A (p.Gly1046Ser)
c.1109G>A
c.*432G>A (n.*432G>A)
n.4075G>A
n.2676G>A
c.3187G>A (p.Gly1063Ser)
c.3235G>A (p.Gly1079Ser)
c.3295G>A (p.Gly1099Ser)
c.2845G>A (p.Gly949Ser)
c.1147G>A (p.Gly383Ser)
c.964G>A (p.Gly322Ser)
c.3196G>A (p.Gly1066Ser)
c.3148G>A (p.Gly1050Ser)
c.2917G>A (p.Gly973Ser)
c.2818G>A (p.Gly940Ser)
c.1999G>A (p.Gly667Ser)
n.3550G>A
13g.51942468T>ACA388028294ATP7Bc.*980A>T (n.*980A>T)
c.*2074A>T (n.*2074A>T)
c.2709A>T (p.Glu903Asp)
c.3330A>T (p.Glu1110Asp)
c.2997A>T (p.Glu999Asp)
c.3078A>T (p.Glu1026Asp)
c.3096A>T (p.Glu1032Asp)
n.3469A>T
n.3693A>T
c.2265A>T (p.Glu755Asp)
c.2040A>T (p.Glu680Asp)
c.3135A>T (p.Glu1045Asp)
c.1108A>T
c.*431A>T (n.*431A>T)
n.4074A>T
n.2675A>T
c.3186A>T (p.Glu1062Asp)
c.3234A>T (p.Glu1078Asp)
c.3294A>T (p.Glu1098Asp)
c.2844A>T (p.Glu948Asp)
c.1146A>T (p.Glu382Asp)
c.963A>T (p.Glu321Asp)
c.3195A>T (p.Glu1065Asp)
c.3147A>T (p.Glu1049Asp)
c.2916A>T (p.Glu972Asp)
c.2817A>T (p.Glu939Asp)
c.1998A>T (p.Glu666Asp)
n.3549A>T
13g.51942468T>CCA483894403ATP7Bc.*980A>G (n.*980A>G)
c.*2074A>G (n.*2074A>G)
c.2709A>G (p.Glu903=)
c.3330A>G (p.Glu1110=)
c.2997A>G (p.Glu999=)
c.3078A>G (p.Glu1026=)
c.3096A>G (p.Glu1032=)
n.3469A>G
n.3693A>G
c.2265A>G (p.Glu755=)
c.2040A>G (p.Glu680=)
c.3135A>G (p.Glu1045=)
c.1108A>G
c.*431A>G (n.*431A>G)
n.4074A>G
n.2675A>G
c.3186A>G (p.Glu1062=)
c.3234A>G (p.Glu1078=)
c.3294A>G (p.Glu1098=)
c.2844A>G (p.Glu948=)
c.1146A>G (p.Glu382=)
c.963A>G (p.Glu321=)
c.3195A>G (p.Glu1065=)
c.3147A>G (p.Glu1049=)
c.2916A>G (p.Glu972=)
c.2817A>G (p.Glu939=)
c.1998A>G (p.Glu666=)
n.3549A>G
 gnomAD v4
13g.51942468T>GCA388028295ATP7Bc.*980A>C (n.*980A>C)
c.*2074A>C (n.*2074A>C)
c.2709A>C (p.Glu903Asp)
c.3330A>C (p.Glu1110Asp)
c.2997A>C (p.Glu999Asp)
c.3078A>C (p.Glu1026Asp)
c.3096A>C (p.Glu1032Asp)
n.3469A>C
n.3693A>C
c.2265A>C (p.Glu755Asp)
c.2040A>C (p.Glu680Asp)
c.3135A>C (p.Glu1045Asp)
c.1108A>C
c.*431A>C (n.*431A>C)
n.4074A>C
n.2675A>C
c.3186A>C (p.Glu1062Asp)
c.3234A>C (p.Glu1078Asp)
c.3294A>C (p.Glu1098Asp)
c.2844A>C (p.Glu948Asp)
c.1146A>C (p.Glu382Asp)
c.963A>C (p.Glu321Asp)
c.3195A>C (p.Glu1065Asp)
c.3147A>C (p.Glu1049Asp)
c.2916A>C (p.Glu972Asp)
c.2817A>C (p.Glu939Asp)
c.1998A>C (p.Glu666Asp)
n.3549A>C
13g.51942469T>ACA388028297ATP7Bc.*979A>T (n.*979A>T)
c.*2073A>T (n.*2073A>T)
c.2708A>T (p.Glu903Val)
c.3329A>T (p.Glu1110Val)
c.2996A>T (p.Glu999Val)
c.3077A>T (p.Glu1026Val)
c.3095A>T (p.Glu1032Val)
n.3468A>T
n.3692A>T
c.2264A>T (p.Glu755Val)
c.2039A>T (p.Glu680Val)
c.3134A>T (p.Glu1045Val)
c.1107A>T
c.*430A>T (n.*430A>T)
n.4073A>T
n.2674A>T
c.3185A>T (p.Glu1062Val)
c.3233A>T (p.Glu1078Val)
c.3293A>T (p.Glu1098Val)
c.2843A>T (p.Glu948Val)
c.1145A>T (p.Glu382Val)
c.962A>T (p.Glu321Val)
c.3194A>T (p.Glu1065Val)
c.3146A>T (p.Glu1049Val)
c.2915A>T (p.Glu972Val)
c.2816A>T (p.Glu939Val)
c.1997A>T (p.Glu666Val)
n.3548A>T
13g.51942469T>CCA388028302ATP7Bc.*979A>G (n.*979A>G)
c.*2073A>G (n.*2073A>G)
c.2708A>G (p.Glu903Gly)
c.3329A>G (p.Glu1110Gly)
c.2996A>G (p.Glu999Gly)
c.3077A>G (p.Glu1026Gly)
c.3095A>G (p.Glu1032Gly)
n.3468A>G
n.3692A>G
c.2264A>G (p.Glu755Gly)
c.2039A>G (p.Glu680Gly)
c.3134A>G (p.Glu1045Gly)
c.1107A>G
c.*430A>G (n.*430A>G)
n.4073A>G
n.2674A>G
c.3185A>G (p.Glu1062Gly)
c.3233A>G (p.Glu1078Gly)
c.3293A>G (p.Glu1098Gly)
c.2843A>G (p.Glu948Gly)
c.1145A>G (p.Glu382Gly)
c.962A>G (p.Glu321Gly)
c.3194A>G (p.Glu1065Gly)
c.3146A>G (p.Glu1049Gly)
c.2915A>G (p.Glu972Gly)
c.2816A>G (p.Glu939Gly)
c.1997A>G (p.Glu666Gly)
n.3548A>G
13g.51942469T>GCA388028299ATP7Bc.*979A>C (n.*979A>C)
c.*2073A>C (n.*2073A>C)
c.2708A>C (p.Glu903Ala)
c.3329A>C (p.Glu1110Ala)
c.2996A>C (p.Glu999Ala)
c.3077A>C (p.Glu1026Ala)
c.3095A>C (p.Glu1032Ala)
n.3468A>C
n.3692A>C
c.2264A>C (p.Glu755Ala)
c.2039A>C (p.Glu680Ala)
c.3134A>C (p.Glu1045Ala)
c.1107A>C
c.*430A>C (n.*430A>C)
n.4073A>C
n.2674A>C
c.3185A>C (p.Glu1062Ala)
c.3233A>C (p.Glu1078Ala)
c.3293A>C (p.Glu1098Ala)
c.2843A>C (p.Glu948Ala)
c.1145A>C (p.Glu382Ala)
c.962A>C (p.Glu321Ala)
c.3194A>C (p.Glu1065Ala)
c.3146A>C (p.Glu1049Ala)
c.2915A>C (p.Glu972Ala)
c.2816A>C (p.Glu939Ala)
c.1997A>C (p.Glu666Ala)
n.3548A>C
 ClinVar
13g.51942470C>ACA388028305ATP7Bc.*978G>T (n.*978G>T)
c.*2072G>T (n.*2072G>T)
c.2707G>T (p.Glu903Ter)
c.3328G>T (p.Glu1110Ter)
c.2995G>T (p.Glu999Ter)
c.3076G>T (p.Glu1026Ter)
c.3094G>T (p.Glu1032Ter)
n.3467G>T
n.3691G>T
c.2263G>T (p.Glu755Ter)
c.2038G>T (p.Glu680Ter)
c.3133G>T (p.Glu1045Ter)
c.1106G>T
c.*429G>T (n.*429G>T)
n.4072G>T
n.2673G>T
c.3184G>T (p.Glu1062Ter)
c.3232G>T (p.Glu1078Ter)
c.3292G>T (p.Glu1098Ter)
c.2842G>T (p.Glu948Ter)
c.1144G>T (p.Glu382Ter)
c.961G>T (p.Glu321Ter)
c.3193G>T (p.Glu1065Ter)
c.3145G>T (p.Glu1049Ter)
c.2914G>T (p.Glu972Ter)
c.2815G>T (p.Glu939Ter)
c.1996G>T (p.Glu666Ter)
n.3547G>T
13g.51942470C=CA2091561466ATP7Bc.*978G= (n.*978G=)
c.*2072G= (n.*2072G=)
c.2707G= (p.Glu903=)
c.3328G= (p.Glu1110=)
c.2995G= (p.Glu999=)
c.3076G= (p.Glu1026=)
c.3094G= (p.Glu1032=)
n.3467G=
n.3691G=
c.2263G= (p.Glu755=)
c.2038G= (p.Glu680=)
c.3133G= (p.Glu1045=)
c.1106G=
c.*429G= (n.*429G=)
n.4072G=
n.2673G=
c.3184G= (p.Glu1062=)
c.3232G= (p.Glu1078=)
c.3292G= (p.Glu1098=)
c.2842G= (p.Glu948=)
c.1144G= (p.Glu382=)
c.961G= (p.Glu321=)
c.3193G= (p.Glu1065=)
c.3145G= (p.Glu1049=)
c.2914G= (p.Glu972=)
c.2815G= (p.Glu939=)
c.1996G= (p.Glu666=)
n.3547G=
13g.51942470C>GCA388028307ATP7Bc.*978G>C (n.*978G>C)
c.*2072G>C (n.*2072G>C)
c.2707G>C (p.Glu903Gln)
c.3328G>C (p.Glu1110Gln)
c.2995G>C (p.Glu999Gln)
c.3076G>C (p.Glu1026Gln)
c.3094G>C (p.Glu1032Gln)
n.3467G>C
n.3691G>C
c.2263G>C (p.Glu755Gln)
c.2038G>C (p.Glu680Gln)
c.3133G>C (p.Glu1045Gln)
c.1106G>C
c.*429G>C (n.*429G>C)
n.4072G>C
n.2673G>C
c.3184G>C (p.Glu1062Gln)
c.3232G>C (p.Glu1078Gln)
c.3292G>C (p.Glu1098Gln)
c.2842G>C (p.Glu948Gln)
c.1144G>C (p.Glu382Gln)
c.961G>C (p.Glu321Gln)
c.3193G>C (p.Glu1065Gln)
c.3145G>C (p.Glu1049Gln)
c.2914G>C (p.Glu972Gln)
c.2815G>C (p.Glu939Gln)
c.1996G>C (p.Glu666Gln)
n.3547G>C
13g.51942470C>TCA388028310ATP7Bc.*978G>A (n.*978G>A)
c.*2072G>A (n.*2072G>A)
c.2707G>A (p.Glu903Lys)
c.3328G>A (p.Glu1110Lys)
c.2995G>A (p.Glu999Lys)
c.3076G>A (p.Glu1026Lys)
c.3094G>A (p.Glu1032Lys)
n.3467G>A
n.3691G>A
c.2263G>A (p.Glu755Lys)
c.2038G>A (p.Glu680Lys)
c.3133G>A (p.Glu1045Lys)
c.1106G>A
c.*429G>A (n.*429G>A)
n.4072G>A
n.2673G>A
c.3184G>A (p.Glu1062Lys)
c.3232G>A (p.Glu1078Lys)
c.3292G>A (p.Glu1098Lys)
c.2842G>A (p.Glu948Lys)
c.1144G>A (p.Glu382Lys)
c.961G>A (p.Glu321Lys)
c.3193G>A (p.Glu1065Lys)
c.3145G>A (p.Glu1049Lys)
c.2914G>A (p.Glu972Lys)
c.2815G>A (p.Glu939Lys)
c.1996G>A (p.Glu666Lys)
n.3547G>A
 dbSNP
13g.51942471C>ACA483894407ATP7Bc.*977G>T (n.*977G>T)
c.*2071G>T (n.*2071G>T)
c.2706G>T (p.Val902=)
c.3327G>T (p.Val1109=)
c.2994G>T (p.Val998=)
c.3075G>T (p.Val1025=)
c.3093G>T (p.Val1031=)
n.3466G>T
n.3690G>T
c.2262G>T (p.Val754=)
c.2037G>T (p.Val679=)
c.3132G>T (p.Val1044=)
c.1105G>T
c.*428G>T (n.*428G>T)
n.4071G>T
n.2672G>T
c.3183G>T (p.Val1061=)
c.3231G>T (p.Val1077=)
c.3291G>T (p.Val1097=)
c.2841G>T (p.Val947=)
c.1143G>T (p.Val381=)
c.960G>T (p.Val320=)
c.3192G>T (p.Val1064=)
c.3144G>T (p.Val1048=)
c.2913G>T (p.Val971=)
c.2814G>T (p.Val938=)
c.1995G>T (p.Val665=)
n.3546G>T
13g.51942471C=CA2091561468ATP7Bc.*977G= (n.*977G=)
c.*2071G= (n.*2071G=)
c.2706G= (p.Val902=)
c.3327G= (p.Val1109=)
c.2994G= (p.Val998=)
c.3075G= (p.Val1025=)
c.3093G= (p.Val1031=)
n.3466G=
n.3690G=
c.2262G= (p.Val754=)
c.2037G= (p.Val679=)
c.3132G= (p.Val1044=)
c.1105G=
c.*428G= (n.*428G=)
n.4071G=
n.2672G=
c.3183G= (p.Val1061=)
c.3231G= (p.Val1077=)
c.3291G= (p.Val1097=)
c.2841G= (p.Val947=)
c.1143G= (p.Val381=)
c.960G= (p.Val320=)
c.3192G= (p.Val1064=)
c.3144G= (p.Val1048=)
c.2913G= (p.Val971=)
c.2814G= (p.Val938=)
c.1995G= (p.Val665=)
n.3546G=
13g.51942471C>GCA483894409ATP7Bc.*977G>C (n.*977G>C)
c.*2071G>C (n.*2071G>C)
c.2706G>C (p.Val902=)
c.3327G>C (p.Val1109=)
c.2994G>C (p.Val998=)
c.3075G>C (p.Val1025=)
c.3093G>C (p.Val1031=)
n.3466G>C
n.3690G>C
c.2262G>C (p.Val754=)
c.2037G>C (p.Val679=)
c.3132G>C (p.Val1044=)
c.1105G>C
c.*428G>C (n.*428G>C)
n.4071G>C
n.2672G>C
c.3183G>C (p.Val1061=)
c.3231G>C (p.Val1077=)
c.3291G>C (p.Val1097=)
c.2841G>C (p.Val947=)
c.1143G>C (p.Val381=)
c.960G>C (p.Val320=)
c.3192G>C (p.Val1064=)
c.3144G>C (p.Val1048=)
c.2913G>C (p.Val971=)
c.2814G>C (p.Val938=)
c.1995G>C (p.Val665=)
n.3546G>C
13g.51942471C>TCA483894411ATP7Bc.*977G>A (n.*977G>A)
c.*2071G>A (n.*2071G>A)
c.2706G>A (p.Val902=)
c.3327G>A (p.Val1109=)
c.2994G>A (p.Val998=)
c.3075G>A (p.Val1025=)
c.3093G>A (p.Val1031=)
n.3466G>A
n.3690G>A
c.2262G>A (p.Val754=)
c.2037G>A (p.Val679=)
c.3132G>A (p.Val1044=)
c.1105G>A
c.*428G>A (n.*428G>A)
n.4071G>A
n.2672G>A
c.3183G>A (p.Val1061=)
c.3231G>A (p.Val1077=)
c.3291G>A (p.Val1097=)
c.2841G>A (p.Val947=)
c.1143G>A (p.Val381=)
c.960G>A (p.Val320=)
c.3192G>A (p.Val1064=)
c.3144G>A (p.Val1048=)
c.2913G>A (p.Val971=)
c.2814G>A (p.Val938=)
c.1995G>A (p.Val665=)
n.3546G>A
 ClinVar dbSNP
13g.51942472A>CCA388028314ATP7Bc.*976T>G (n.*976T>G)
c.*2070T>G (n.*2070T>G)
c.2705T>G (p.Val902Gly)
c.3326T>G (p.Val1109Gly)
c.2993T>G (p.Val998Gly)
c.3074T>G (p.Val1025Gly)
c.3092T>G (p.Val1031Gly)
n.3465T>G
n.3689T>G
c.2261T>G (p.Val754Gly)
c.2036T>G (p.Val679Gly)
c.3131T>G (p.Val1044Gly)
c.1104T>G
c.*427T>G (n.*427T>G)
n.4070T>G
n.2671T>G
c.3182T>G (p.Val1061Gly)
c.3230T>G (p.Val1077Gly)
c.3290T>G (p.Val1097Gly)
c.2840T>G (p.Val947Gly)
c.1142T>G (p.Val381Gly)
c.959T>G (p.Val320Gly)
c.3191T>G (p.Val1064Gly)
c.3143T>G (p.Val1048Gly)
c.2912T>G (p.Val971Gly)
c.2813T>G (p.Val938Gly)
c.1994T>G (p.Val665Gly)
n.3545T>G
13g.51942472A>GCA388028327ATP7Bc.*976T>C (n.*976T>C)
c.*2070T>C (n.*2070T>C)
c.2705T>C (p.Val902Ala)
c.3326T>C (p.Val1109Ala)
c.2993T>C (p.Val998Ala)
c.3074T>C (p.Val1025Ala)
c.3092T>C (p.Val1031Ala)
n.3465T>C
n.3689T>C
c.2261T>C (p.Val754Ala)
c.2036T>C (p.Val679Ala)
c.3131T>C (p.Val1044Ala)
c.1104T>C
c.*427T>C (n.*427T>C)
n.4070T>C
n.2671T>C
c.3182T>C (p.Val1061Ala)
c.3230T>C (p.Val1077Ala)
c.3290T>C (p.Val1097Ala)
c.2840T>C (p.Val947Ala)
c.1142T>C (p.Val381Ala)
c.959T>C (p.Val320Ala)
c.3191T>C (p.Val1064Ala)
c.3143T>C (p.Val1048Ala)
c.2912T>C (p.Val971Ala)
c.2813T>C (p.Val938Ala)
c.1994T>C (p.Val665Ala)
n.3545T>C
13g.51942472A>TCA388028329ATP7Bc.*976T>A (n.*976T>A)
c.*2070T>A (n.*2070T>A)
c.2705T>A (p.Val902Glu)
c.3326T>A (p.Val1109Glu)
c.2993T>A (p.Val998Glu)
c.3074T>A (p.Val1025Glu)
c.3092T>A (p.Val1031Glu)
n.3465T>A
n.3689T>A
c.2261T>A (p.Val754Glu)
c.2036T>A (p.Val679Glu)
c.3131T>A (p.Val1044Glu)
c.1104T>A
c.*427T>A (n.*427T>A)
n.4070T>A
n.2671T>A
c.3182T>A (p.Val1061Glu)
c.3230T>A (p.Val1077Glu)
c.3290T>A (p.Val1097Glu)
c.2840T>A (p.Val947Glu)
c.1142T>A (p.Val381Glu)
c.959T>A (p.Val320Glu)
c.3191T>A (p.Val1064Glu)
c.3143T>A (p.Val1048Glu)
c.2912T>A (p.Val971Glu)
c.2813T>A (p.Val938Glu)
c.1994T>A (p.Val665Glu)
n.3545T>A
13g.51942473C>ACA388028338ATP7Bc.*975G>T (n.*975G>T)
c.*2069G>T (n.*2069G>T)
c.2704G>T (p.Val902Leu)
c.3325G>T (p.Val1109Leu)
c.2992G>T (p.Val998Leu)
c.3073G>T (p.Val1025Leu)
c.3091G>T (p.Val1031Leu)
n.3464G>T
n.3688G>T
c.2260G>T (p.Val754Leu)
c.2035G>T (p.Val679Leu)
c.3130G>T (p.Val1044Leu)
c.1103G>T
c.*426G>T (n.*426G>T)
n.4069G>T
n.2670G>T
c.3181G>T (p.Val1061Leu)
c.3229G>T (p.Val1077Leu)
c.3289G>T (p.Val1097Leu)
c.2839G>T (p.Val947Leu)
c.1141G>T (p.Val381Leu)
c.958G>T (p.Val320Leu)
c.3190G>T (p.Val1064Leu)
c.3142G>T (p.Val1048Leu)
c.2911G>T (p.Val971Leu)
c.2812G>T (p.Val938Leu)
c.1993G>T (p.Val665Leu)
n.3544G>T
 COSMIC
13g.51942473C=CA2091561474ATP7Bc.*975G= (n.*975G=)
c.*2069G= (n.*2069G=)
c.2704G= (p.Val902=)
c.3325G= (p.Val1109=)
c.2992G= (p.Val998=)
c.3073G= (p.Val1025=)
c.3091G= (p.Val1031=)
n.3464G=
n.3688G=
c.2260G= (p.Val754=)
c.2035G= (p.Val679=)
c.3130G= (p.Val1044=)
c.1103G=
c.*426G= (n.*426G=)
n.4069G=
n.2670G=
c.3181G= (p.Val1061=)
c.3229G= (p.Val1077=)
c.3289G= (p.Val1097=)
c.2839G= (p.Val947=)
c.1141G= (p.Val381=)
c.958G= (p.Val320=)
c.3190G= (p.Val1064=)
c.3142G= (p.Val1048=)
c.2911G= (p.Val971=)
c.2812G= (p.Val938=)
c.1993G= (p.Val665=)
n.3544G=
13g.51942473C>GCA388028341ATP7Bc.*975G>C (n.*975G>C)
c.*2069G>C (n.*2069G>C)
c.2704G>C (p.Val902Leu)
c.3325G>C (p.Val1109Leu)
c.2992G>C (p.Val998Leu)
c.3073G>C (p.Val1025Leu)
c.3091G>C (p.Val1031Leu)
n.3464G>C
n.3688G>C
c.2260G>C (p.Val754Leu)
c.2035G>C (p.Val679Leu)
c.3130G>C (p.Val1044Leu)
c.1103G>C
c.*426G>C (n.*426G>C)
n.4069G>C
n.2670G>C
c.3181G>C (p.Val1061Leu)
c.3229G>C (p.Val1077Leu)
c.3289G>C (p.Val1097Leu)
c.2839G>C (p.Val947Leu)
c.1141G>C (p.Val381Leu)
c.958G>C (p.Val320Leu)
c.3190G>C (p.Val1064Leu)
c.3142G>C (p.Val1048Leu)
c.2911G>C (p.Val971Leu)
c.2812G>C (p.Val938Leu)
c.1993G>C (p.Val665Leu)
n.3544G>C
13g.51942473C>TCA6988737ATP7Bc.*975G>A (n.*975G>A)
c.*2069G>A (n.*2069G>A)
c.2704G>A (p.Val902Met)
c.3325G>A (p.Val1109Met)
c.2992G>A (p.Val998Met)
c.3073G>A (p.Val1025Met)
c.3091G>A (p.Val1031Met)
n.3464G>A
n.3688G>A
c.2260G>A (p.Val754Met)
c.2035G>A (p.Val679Met)
c.3130G>A (p.Val1044Met)
c.1103G>A
c.*426G>A (n.*426G>A)
n.4069G>A
n.2670G>A
c.3181G>A (p.Val1061Met)
c.3229G>A (p.Val1077Met)
c.3289G>A (p.Val1097Met)
c.2839G>A (p.Val947Met)
c.1141G>A (p.Val381Met)
c.958G>A (p.Val320Met)
c.3190G>A (p.Val1064Met)
c.3142G>A (p.Val1048Met)
c.2911G>A (p.Val971Met)
c.2812G>A (p.Val938Met)
c.1993G>A (p.Val665Met)
n.3544G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51942474G>ACA271175ATP7Bc.*974C>T (n.*974C>T)
c.*2068C>T (n.*2068C>T)
c.2703C>T (p.Asn901=)
c.3324C>T (p.Asn1108=)
c.2991C>T (p.Asn997=)
c.3072C>T (p.Asn1024=)
c.3090C>T (p.Asn1030=)
n.3463C>T
n.3687C>T
c.2259C>T (p.Asn753=)
c.2034C>T (p.Asn678=)
c.3129C>T (p.Asn1043=)
c.1102C>T
c.*425C>T (n.*425C>T)
n.4068C>T
n.2669C>T
c.3180C>T (p.Asn1060=)
c.3228C>T (p.Asn1076=)
c.3288C>T (p.Asn1096=)
c.2838C>T (p.Asn946=)
c.1140C>T (p.Asn380=)
c.957C>T (p.Asn319=)
c.3189C>T (p.Asn1063=)
c.3141C>T (p.Asn1047=)
c.2910C>T (p.Asn970=)
c.2811C>T (p.Asn937=)
c.1992C>T (p.Asn664=)
n.3543C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51942474G>CCA388028344ATP7Bc.*974C>G (n.*974C>G)
c.*2068C>G (n.*2068C>G)
c.2703C>G (p.Asn901Lys)
c.3324C>G (p.Asn1108Lys)
c.2991C>G (p.Asn997Lys)
c.3072C>G (p.Asn1024Lys)
c.3090C>G (p.Asn1030Lys)
n.3463C>G
n.3687C>G
c.2259C>G (p.Asn753Lys)
c.2034C>G (p.Asn678Lys)
c.3129C>G (p.Asn1043Lys)
c.1102C>G
c.*425C>G (n.*425C>G)
n.4068C>G
n.2669C>G
c.3180C>G (p.Asn1060Lys)
c.3228C>G (p.Asn1076Lys)
c.3288C>G (p.Asn1096Lys)
c.2838C>G (p.Asn946Lys)
c.1140C>G (p.Asn380Lys)
c.957C>G (p.Asn319Lys)
c.3189C>G (p.Asn1063Lys)
c.3141C>G (p.Asn1047Lys)
c.2910C>G (p.Asn970Lys)
c.2811C>G (p.Asn937Lys)
c.1992C>G (p.Asn664Lys)
n.3543C>G
13g.51942474G=CA2091561482ATP7Bc.*974C= (n.*974C=)
c.*2068C= (n.*2068C=)
c.2703C= (p.Asn901=)
c.3324C= (p.Asn1108=)
c.2991C= (p.Asn997=)
c.3072C= (p.Asn1024=)
c.3090C= (p.Asn1030=)
n.3463C=
n.3687C=
c.2259C= (p.Asn753=)
c.2034C= (p.Asn678=)
c.3129C= (p.Asn1043=)
c.1102C=
c.*425C= (n.*425C=)
n.4068C=
n.2669C=
c.3180C= (p.Asn1060=)
c.3228C= (p.Asn1076=)
c.3288C= (p.Asn1096=)
c.2838C= (p.Asn946=)
c.1140C= (p.Asn380=)
c.957C= (p.Asn319=)
c.3189C= (p.Asn1063=)
c.3141C= (p.Asn1047=)
c.2910C= (p.Asn970=)
c.2811C= (p.Asn937=)
c.1992C= (p.Asn664=)
n.3543C=
13g.51942474G>TCA388028345ATP7Bc.*974C>A (n.*974C>A)
c.*2068C>A (n.*2068C>A)
c.2703C>A (p.Asn901Lys)
c.3324C>A (p.Asn1108Lys)
c.2991C>A (p.Asn997Lys)
c.3072C>A (p.Asn1024Lys)
c.3090C>A (p.Asn1030Lys)
n.3463C>A
n.3687C>A
c.2259C>A (p.Asn753Lys)
c.2034C>A (p.Asn678Lys)
c.3129C>A (p.Asn1043Lys)
c.1102C>A
c.*425C>A (n.*425C>A)
n.4068C>A
n.2669C>A
c.3180C>A (p.Asn1060Lys)
c.3228C>A (p.Asn1076Lys)
c.3288C>A (p.Asn1096Lys)
c.2838C>A (p.Asn946Lys)
c.1140C>A (p.Asn380Lys)
c.957C>A (p.Asn319Lys)
c.3189C>A (p.Asn1063Lys)
c.3141C>A (p.Asn1047Lys)
c.2910C>A (p.Asn970Lys)
c.2811C>A (p.Asn937Lys)
c.1992C>A (p.Asn664Lys)
n.3543C>A
13g.51942475T>ACA388028346ATP7Bc.*973A>T (n.*973A>T)
c.*2067A>T (n.*2067A>T)
c.2702A>T (p.Asn901Ile)
c.3323A>T (p.Asn1108Ile)
c.2990A>T (p.Asn997Ile)
c.3071A>T (p.Asn1024Ile)
c.3089A>T (p.Asn1030Ile)
n.3462A>T
n.3686A>T
c.2258A>T (p.Asn753Ile)
c.2033A>T (p.Asn678Ile)
c.3128A>T (p.Asn1043Ile)
c.1101A>T
c.*424A>T (n.*424A>T)
n.4067A>T
n.2668A>T
c.3179A>T (p.Asn1060Ile)
c.3227A>T (p.Asn1076Ile)
c.3287A>T (p.Asn1096Ile)
c.2837A>T (p.Asn946Ile)
c.1139A>T (p.Asn380Ile)
c.956A>T (p.Asn319Ile)
c.3188A>T (p.Asn1063Ile)
c.3140A>T (p.Asn1047Ile)
c.2909A>T (p.Asn970Ile)
c.2810A>T (p.Asn937Ile)
c.1991A>T (p.Asn664Ile)
n.3542A>T
13g.51942475T>CCA388028350ATP7Bc.*973A>G (n.*973A>G)
c.*2067A>G (n.*2067A>G)
c.2702A>G (p.Asn901Ser)
c.3323A>G (p.Asn1108Ser)
c.2990A>G (p.Asn997Ser)
c.3071A>G (p.Asn1024Ser)
c.3089A>G (p.Asn1030Ser)
n.3462A>G
n.3686A>G
c.2258A>G (p.Asn753Ser)
c.2033A>G (p.Asn678Ser)
c.3128A>G (p.Asn1043Ser)
c.1101A>G
c.*424A>G (n.*424A>G)
n.4067A>G
n.2668A>G
c.3179A>G (p.Asn1060Ser)
c.3227A>G (p.Asn1076Ser)
c.3287A>G (p.Asn1096Ser)
c.2837A>G (p.Asn946Ser)
c.1139A>G (p.Asn380Ser)
c.956A>G (p.Asn319Ser)
c.3188A>G (p.Asn1063Ser)
c.3140A>G (p.Asn1047Ser)
c.2909A>G (p.Asn970Ser)
c.2810A>G (p.Asn937Ser)
c.1991A>G (p.Asn664Ser)
n.3542A>G
 gnomAD v4
13g.51942475T>GCA6988738ATP7Bc.*973A>C (n.*973A>C)
c.*2067A>C (n.*2067A>C)
c.2702A>C (p.Asn901Thr)
c.3323A>C (p.Asn1108Thr)
c.2990A>C (p.Asn997Thr)
c.3071A>C (p.Asn1024Thr)
c.3089A>C (p.Asn1030Thr)
n.3462A>C
n.3686A>C
c.2258A>C (p.Asn753Thr)
c.2033A>C (p.Asn678Thr)
c.3128A>C (p.Asn1043Thr)
c.1101A>C
c.*424A>C (n.*424A>C)
n.4067A>C
n.2668A>C
c.3179A>C (p.Asn1060Thr)
c.3227A>C (p.Asn1076Thr)
c.3287A>C (p.Asn1096Thr)
c.2837A>C (p.Asn946Thr)
c.1139A>C (p.Asn380Thr)
c.956A>C (p.Asn319Thr)
c.3188A>C (p.Asn1063Thr)
c.3140A>C (p.Asn1047Thr)
c.2909A>C (p.Asn970Thr)
c.2810A>C (p.Asn937Thr)
c.1991A>C (p.Asn664Thr)
n.3542A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51942475T=CA2091561489ATP7Bc.*973A= (n.*973A=)
c.*2067A= (n.*2067A=)
c.2702A= (p.Asn901=)
c.3323A= (p.Asn1108=)
c.2990A= (p.Asn997=)
c.3071A= (p.Asn1024=)
c.3089A= (p.Asn1030=)
n.3462A=
n.3686A=
c.2258A= (p.Asn753=)
c.2033A= (p.Asn678=)
c.3128A= (p.Asn1043=)
c.1101A=
c.*424A= (n.*424A=)
n.4067A=
n.2668A=
c.3179A= (p.Asn1060=)
c.3227A= (p.Asn1076=)
c.3287A= (p.Asn1096=)
c.2837A= (p.Asn946=)
c.1139A= (p.Asn380=)
c.956A= (p.Asn319=)
c.3188A= (p.Asn1063=)
c.3140A= (p.Asn1047=)
c.2909A= (p.Asn970=)
c.2810A= (p.Asn937=)
c.1991A= (p.Asn664=)
n.3542A=
13g.51942475_51942478delinsTTGCCA2091561486ATP7Bc.*970_*973delinsGCAA (n.*970_*973delinsGCAA)
c.*2064_*2067delinsGCAA (n.*2064_*2067delinsGCAA)
c.2699_2702delinsGCAA (p.Ser900=)
c.3320_3323delinsGCAA (p.Ser1107=)
c.2987_2990delinsGCAA (p.Ser996=)
c.3068_3071delinsGCAA (p.Ser1023=)
c.3086_3089delinsGCAA (p.Ser1029=)
n.3459_3462delinsGCAA
n.3683_3686delinsGCAA
c.2255_2258delinsGCAA (p.Ser752=)
c.2030_2033delinsGCAA (p.Ser677=)
c.3125_3128delinsGCAA (p.Ser1042=)
c.1098_1101delinsGCAA
c.*421_*424delinsGCAA (n.*421_*424delinsGCAA)
n.4064_4067delinsGCAA
n.2665_2668delinsGCAA
c.3176_3179delinsGCAA (p.Ser1059=)
c.3224_3227delinsGCAA (p.Ser1075=)
c.3284_3287delinsGCAA (p.Ser1095=)
c.2834_2837delinsGCAA (p.Ser945=)
c.1136_1139delinsGCAA (p.Ser379=)
c.953_956delinsGCAA (p.Ser318=)
c.3185_3188delinsGCAA (p.Ser1062=)
c.3137_3140delinsGCAA (p.Ser1046=)
c.2906_2909delinsGCAA (p.Ser969=)
c.2807_2810delinsGCAA (p.Ser936=)
c.1988_1991delinsGCAA (p.Ser663=)
n.3539_3542delinsGCAA
13g.51942476T>ACA388028358ATP7Bc.*972A>T (n.*972A>T)
c.*2066A>T (n.*2066A>T)
c.2701A>T (p.Asn901Tyr)
c.3322A>T (p.Asn1108Tyr)
c.2989A>T (p.Asn997Tyr)
c.3070A>T (p.Asn1024Tyr)
c.3088A>T (p.Asn1030Tyr)
n.3461A>T
n.3685A>T
c.2257A>T (p.Asn753Tyr)
c.2032A>T (p.Asn678Tyr)
c.3127A>T (p.Asn1043Tyr)
c.1100A>T
c.*423A>T (n.*423A>T)
n.4066A>T
n.2667A>T
c.3178A>T (p.Asn1060Tyr)
c.3226A>T (p.Asn1076Tyr)
c.3286A>T (p.Asn1096Tyr)
c.2836A>T (p.Asn946Tyr)
c.1138A>T (p.Asn380Tyr)
c.955A>T (p.Asn319Tyr)
c.3187A>T (p.Asn1063Tyr)
c.3139A>T (p.Asn1047Tyr)
c.2908A>T (p.Asn970Tyr)
c.2809A>T (p.Asn937Tyr)
c.1990A>T (p.Asn664Tyr)
n.3541A>T
13g.51942476T>CCA388028359ATP7Bc.*972A>G (n.*972A>G)
c.*2066A>G (n.*2066A>G)
c.2701A>G (p.Asn901Asp)
c.3322A>G (p.Asn1108Asp)
c.2989A>G (p.Asn997Asp)
c.3070A>G (p.Asn1024Asp)
c.3088A>G (p.Asn1030Asp)
n.3461A>G
n.3685A>G
c.2257A>G (p.Asn753Asp)
c.2032A>G (p.Asn678Asp)
c.3127A>G (p.Asn1043Asp)
c.1100A>G
c.*423A>G (n.*423A>G)
n.4066A>G
n.2667A>G
c.3178A>G (p.Asn1060Asp)
c.3226A>G (p.Asn1076Asp)
c.3286A>G (p.Asn1096Asp)
c.2836A>G (p.Asn946Asp)
c.1138A>G (p.Asn380Asp)
c.955A>G (p.Asn319Asp)
c.3187A>G (p.Asn1063Asp)
c.3139A>G (p.Asn1047Asp)
c.2908A>G (p.Asn970Asp)
c.2809A>G (p.Asn937Asp)
c.1990A>G (p.Asn664Asp)
n.3541A>G
13g.51942476T>GCA388028360ATP7Bc.*972A>C (n.*972A>C)
c.*2066A>C (n.*2066A>C)
c.2701A>C (p.Asn901His)
c.3322A>C (p.Asn1108His)
c.2989A>C (p.Asn997His)
c.3070A>C (p.Asn1024His)
c.3088A>C (p.Asn1030His)
n.3461A>C
n.3685A>C
c.2257A>C (p.Asn753His)
c.2032A>C (p.Asn678His)
c.3127A>C (p.Asn1043His)
c.1100A>C
c.*423A>C (n.*423A>C)
n.4066A>C
n.2667A>C
c.3178A>C (p.Asn1060His)
c.3226A>C (p.Asn1076His)
c.3286A>C (p.Asn1096His)
c.2836A>C (p.Asn946His)
c.1138A>C (p.Asn380His)
c.955A>C (p.Asn319His)
c.3187A>C (p.Asn1063His)
c.3139A>C (p.Asn1047His)
c.2908A>C (p.Asn970His)
c.2809A>C (p.Asn937His)
c.1990A>C (p.Asn664His)
n.3541A>C
 ClinVar dbSNP
13g.51942476T=CA2091561503ATP7Bc.*972A= (n.*972A=)
c.*2066A= (n.*2066A=)
c.2701A= (p.Asn901=)
c.3322A= (p.Asn1108=)
c.2989A= (p.Asn997=)
c.3070A= (p.Asn1024=)
c.3088A= (p.Asn1030=)
n.3461A=
n.3685A=
c.2257A= (p.Asn753=)
c.2032A= (p.Asn678=)
c.3127A= (p.Asn1043=)
c.1100A=
c.*423A= (n.*423A=)
n.4066A=
n.2667A=
c.3178A= (p.Asn1060=)
c.3226A= (p.Asn1076=)
c.3286A= (p.Asn1096=)
c.2836A= (p.Asn946=)
c.1138A= (p.Asn380=)
c.955A= (p.Asn319=)
c.3187A= (p.Asn1063=)
c.3139A= (p.Asn1047=)
c.2908A= (p.Asn970=)
c.2809A= (p.Asn937=)
c.1990A= (p.Asn664=)
n.3541A=
13g.51942478_51942480delCA6988739ATP7Bc.*970_*972del (n.*970_*972del)
c.*2064_*2066del (n.*2064_*2066del)
c.2699_2701del (p.Ser900del)
c.3320_3322del (p.Ser1107del)
c.2987_2989del (p.Ser996del)
c.3068_3070del (p.Ser1023del)
c.3086_3088del (p.Ser1029del)
n.3459_3461del
n.3683_3685del
c.2255_2257del (p.Ser752del)
c.2030_2032del (p.Ser677del)
c.3125_3127del (p.Ser1042del)
c.1098_1100del
c.*421_*423del (n.*421_*423del)
n.4064_4066del
n.2665_2667del
c.3176_3178del (p.Ser1059del)
c.3224_3226del (p.Ser1075del)
c.3284_3286del (p.Ser1095del)
c.2834_2836del (p.Ser945del)
c.1136_1138del (p.Ser379del)
c.953_955del (p.Ser318del)
c.3185_3187del (p.Ser1062del)
c.3137_3139del (p.Ser1046del)
c.2906_2908del (p.Ser969del)
c.2807_2809del (p.Ser936del)
c.1988_1990del (p.Ser663del)
n.3539_3541del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51942477delCA2695218728ATP7Bc.*971del (n.*971del)
c.*2065del (n.*2065del)
c.2700del (p.Ser900ArgfsTer14)
c.3321del (p.Ser1107ArgfsTer14)
c.2988del (p.Ser996ArgfsTer14)
c.3069del (p.Ser1023ArgfsTer14)
c.3087del (p.Ser1029ArgfsTer14)
n.3460del
n.3684del
c.2256del (p.Ser752ArgfsTer14)
c.2031del (p.Ser677ArgfsTer14)
c.3126del (p.Ser1042ArgfsTer14)
c.1099del
c.*422del (n.*422del)
n.4065del
n.2666del
c.3177del (p.Ser1059ArgfsTer14)
c.3225del (p.Ser1075ArgfsTer14)
c.3285del (p.Ser1095ArgfsTer14)
c.2835del (p.Ser945ArgfsTer14)
c.1137del (p.Ser379ArgfsTer14)
c.954del (p.Ser318ArgfsTer14)
c.3186del (p.Ser1062ArgfsTer14)
c.3138del (p.Ser1046ArgfsTer14)
c.2907del (p.Ser969ArgfsTer14)
c.2808del (p.Ser936ArgfsTer14)
c.1989del (p.Ser663ArgfsTer14)
n.3540del
13g.51942477G>ACA483894419ATP7Bc.*971C>T (n.*971C>T)
c.*2065C>T (n.*2065C>T)
c.2700C>T (p.Ser900=)
c.3321C>T (p.Ser1107=)
c.2988C>T (p.Ser996=)
c.3069C>T (p.Ser1023=)
c.3087C>T (p.Ser1029=)
n.3460C>T
n.3684C>T
c.2256C>T (p.Ser752=)
c.2031C>T (p.Ser677=)
c.3126C>T (p.Ser1042=)
c.1099C>T
c.*422C>T (n.*422C>T)
n.4065C>T
n.2666C>T
c.3177C>T (p.Ser1059=)
c.3225C>T (p.Ser1075=)
c.3285C>T (p.Ser1095=)
c.2835C>T (p.Ser945=)
c.1137C>T (p.Ser379=)
c.954C>T (p.Ser318=)
c.3186C>T (p.Ser1062=)
c.3138C>T (p.Ser1046=)
c.2907C>T (p.Ser969=)
c.2808C>T (p.Ser936=)
c.1989C>T (p.Ser663=)
n.3540C>T
13g.51942477G>CCA388028361ATP7Bc.*971C>G (n.*971C>G)
c.*2065C>G (n.*2065C>G)
c.2700C>G (p.Ser900Arg)
c.3321C>G (p.Ser1107Arg)
c.2988C>G (p.Ser996Arg)
c.3069C>G (p.Ser1023Arg)
c.3087C>G (p.Ser1029Arg)
n.3460C>G
n.3684C>G
c.2256C>G (p.Ser752Arg)
c.2031C>G (p.Ser677Arg)
c.3126C>G (p.Ser1042Arg)
c.1099C>G
c.*422C>G (n.*422C>G)
n.4065C>G
n.2666C>G
c.3177C>G (p.Ser1059Arg)
c.3225C>G (p.Ser1075Arg)
c.3285C>G (p.Ser1095Arg)
c.2835C>G (p.Ser945Arg)
c.1137C>G (p.Ser379Arg)
c.954C>G (p.Ser318Arg)
c.3186C>G (p.Ser1062Arg)
c.3138C>G (p.Ser1046Arg)
c.2907C>G (p.Ser969Arg)
c.2808C>G (p.Ser936Arg)
c.1989C>G (p.Ser663Arg)
n.3540C>G
13g.51942477G>TCA388028362ATP7Bc.*971C>A (n.*971C>A)
c.*2065C>A (n.*2065C>A)
c.2700C>A (p.Ser900Arg)
c.3321C>A (p.Ser1107Arg)
c.2988C>A (p.Ser996Arg)
c.3069C>A (p.Ser1023Arg)
c.3087C>A (p.Ser1029Arg)
n.3460C>A
n.3684C>A
c.2256C>A (p.Ser752Arg)
c.2031C>A (p.Ser677Arg)
c.3126C>A (p.Ser1042Arg)
c.1099C>A
c.*422C>A (n.*422C>A)
n.4065C>A
n.2666C>A
c.3177C>A (p.Ser1059Arg)
c.3225C>A (p.Ser1075Arg)
c.3285C>A (p.Ser1095Arg)
c.2835C>A (p.Ser945Arg)
c.1137C>A (p.Ser379Arg)
c.954C>A (p.Ser318Arg)
c.3186C>A (p.Ser1062Arg)
c.3138C>A (p.Ser1046Arg)
c.2907C>A (p.Ser969Arg)
c.2808C>A (p.Ser936Arg)
c.1989C>A (p.Ser663Arg)
n.3540C>A
13g.51942478C>ACA388028372ATP7Bc.*970G>T (n.*970G>T)
c.*2064G>T (n.*2064G>T)
c.2699G>T (p.Ser900Ile)
c.3320G>T (p.Ser1107Ile)
c.2987G>T (p.Ser996Ile)
c.3068G>T (p.Ser1023Ile)
c.3086G>T (p.Ser1029Ile)
n.3459G>T
n.3683G>T
c.2255G>T (p.Ser752Ile)
c.2030G>T (p.Ser677Ile)
c.3125G>T (p.Ser1042Ile)
c.1098G>T
c.*421G>T (n.*421G>T)
n.4064G>T
n.2665G>T
c.3176G>T (p.Ser1059Ile)
c.3224G>T (p.Ser1075Ile)
c.3284G>T (p.Ser1095Ile)
c.2834G>T (p.Ser945Ile)
c.1136G>T (p.Ser379Ile)
c.953G>T (p.Ser318Ile)
c.3185G>T (p.Ser1062Ile)
c.3137G>T (p.Ser1046Ile)
c.2906G>T (p.Ser969Ile)
c.2807G>T (p.Ser936Ile)
c.1988G>T (p.Ser663Ile)
n.3539G>T
13g.51942478C>GCA388028375ATP7Bc.*970G>C (n.*970G>C)
c.*2064G>C (n.*2064G>C)
c.2699G>C (p.Ser900Thr)
c.3320G>C (p.Ser1107Thr)
c.2987G>C (p.Ser996Thr)
c.3068G>C (p.Ser1023Thr)
c.3086G>C (p.Ser1029Thr)
n.3459G>C
n.3683G>C
c.2255G>C (p.Ser752Thr)
c.2030G>C (p.Ser677Thr)
c.3125G>C (p.Ser1042Thr)
c.1098G>C
c.*421G>C (n.*421G>C)
n.4064G>C
n.2665G>C
c.3176G>C (p.Ser1059Thr)
c.3224G>C (p.Ser1075Thr)
c.3284G>C (p.Ser1095Thr)
c.2834G>C (p.Ser945Thr)
c.1136G>C (p.Ser379Thr)
c.953G>C (p.Ser318Thr)
c.3185G>C (p.Ser1062Thr)
c.3137G>C (p.Ser1046Thr)
c.2906G>C (p.Ser969Thr)
c.2807G>C (p.Ser936Thr)
c.1988G>C (p.Ser663Thr)
n.3539G>C
 COSMIC
13g.51942478C>TCA388028392ATP7Bc.*970G>A (n.*970G>A)
c.*2064G>A (n.*2064G>A)
c.2699G>A (p.Ser900Asn)
c.3320G>A (p.Ser1107Asn)
c.2987G>A (p.Ser996Asn)
c.3068G>A (p.Ser1023Asn)
c.3086G>A (p.Ser1029Asn)
n.3459G>A
n.3683G>A
c.2255G>A (p.Ser752Asn)
c.2030G>A (p.Ser677Asn)
c.3125G>A (p.Ser1042Asn)
c.1098G>A
c.*421G>A (n.*421G>A)
n.4064G>A
n.2665G>A
c.3176G>A (p.Ser1059Asn)
c.3224G>A (p.Ser1075Asn)
c.3284G>A (p.Ser1095Asn)
c.2834G>A (p.Ser945Asn)
c.1136G>A (p.Ser379Asn)
c.953G>A (p.Ser318Asn)
c.3185G>A (p.Ser1062Asn)
c.3137G>A (p.Ser1046Asn)
c.2906G>A (p.Ser969Asn)
c.2807G>A (p.Ser936Asn)
c.1988G>A (p.Ser663Asn)
n.3539G>A
13g.51942479T>ACA388028404ATP7Bc.*969A>T (n.*969A>T)
c.*2063A>T (n.*2063A>T)
c.2698A>T (p.Ser900Cys)
c.3319A>T (p.Ser1107Cys)
c.2986A>T (p.Ser996Cys)
c.3067A>T (p.Ser1023Cys)
c.3085A>T (p.Ser1029Cys)
n.3458A>T
n.3682A>T
c.2254A>T (p.Ser752Cys)
c.2029A>T (p.Ser677Cys)
c.3124A>T (p.Ser1042Cys)
c.1097A>T
c.*420A>T (n.*420A>T)
n.4063A>T
n.2664A>T
c.3175A>T (p.Ser1059Cys)
c.3223A>T (p.Ser1075Cys)
c.3283A>T (p.Ser1095Cys)
c.2833A>T (p.Ser945Cys)
c.1135A>T (p.Ser379Cys)
c.952A>T (p.Ser318Cys)
c.3184A>T (p.Ser1062Cys)
c.3136A>T (p.Ser1046Cys)
c.2905A>T (p.Ser969Cys)
c.2806A>T (p.Ser936Cys)
c.1987A>T (p.Ser663Cys)
n.3538A>T
13g.51942479T>CCA388028408ATP7Bc.*969A>G (n.*969A>G)
c.*2063A>G (n.*2063A>G)
c.2698A>G (p.Ser900Gly)
c.3319A>G (p.Ser1107Gly)
c.2986A>G (p.Ser996Gly)
c.3067A>G (p.Ser1023Gly)
c.3085A>G (p.Ser1029Gly)
n.3458A>G
n.3682A>G
c.2254A>G (p.Ser752Gly)
c.2029A>G (p.Ser677Gly)
c.3124A>G (p.Ser1042Gly)
c.1097A>G
c.*420A>G (n.*420A>G)
n.4063A>G
n.2664A>G
c.3175A>G (p.Ser1059Gly)
c.3223A>G (p.Ser1075Gly)
c.3283A>G (p.Ser1095Gly)
c.2833A>G (p.Ser945Gly)
c.1135A>G (p.Ser379Gly)
c.952A>G (p.Ser318Gly)
c.3184A>G (p.Ser1062Gly)
c.3136A>G (p.Ser1046Gly)
c.2905A>G (p.Ser969Gly)
c.2806A>G (p.Ser936Gly)
c.1987A>G (p.Ser663Gly)
n.3538A>G
13g.51942479T>GCA388028396ATP7Bc.*969A>C (n.*969A>C)
c.*2063A>C (n.*2063A>C)
c.2698A>C (p.Ser900Arg)
c.3319A>C (p.Ser1107Arg)
c.2986A>C (p.Ser996Arg)
c.3067A>C (p.Ser1023Arg)
c.3085A>C (p.Ser1029Arg)
n.3458A>C
n.3682A>C
c.2254A>C (p.Ser752Arg)
c.2029A>C (p.Ser677Arg)
c.3124A>C (p.Ser1042Arg)
c.1097A>C
c.*420A>C (n.*420A>C)
n.4063A>C
n.2664A>C
c.3175A>C (p.Ser1059Arg)
c.3223A>C (p.Ser1075Arg)
c.3283A>C (p.Ser1095Arg)
c.2833A>C (p.Ser945Arg)
c.1135A>C (p.Ser379Arg)
c.952A>C (p.Ser318Arg)
c.3184A>C (p.Ser1062Arg)
c.3136A>C (p.Ser1046Arg)
c.2905A>C (p.Ser969Arg)
c.2806A>C (p.Ser936Arg)
c.1987A>C (p.Ser663Arg)
n.3538A>C
13g.51942480G>ACA483894424ATP7Bc.*968C>T (n.*968C>T)
c.*2062C>T (n.*2062C>T)
c.2697C>T (p.Val899=)
c.3318C>T (p.Val1106=)
c.2985C>T (p.Val995=)
c.3066C>T (p.Val1022=)
c.3084C>T (p.Val1028=)
n.3457C>T
n.3681C>T
c.2253C>T (p.Val751=)
c.2028C>T (p.Val676=)
c.3123C>T (p.Val1041=)
c.1096C>T
c.*419C>T (n.*419C>T)
n.4062C>T
n.2663C>T
c.3174C>T (p.Val1058=)
c.3222C>T (p.Val1074=)
c.3282C>T (p.Val1094=)
c.2832C>T (p.Val944=)
c.1134C>T (p.Val378=)
c.951C>T (p.Val317=)
c.3183C>T (p.Val1061=)
c.3135C>T (p.Val1045=)
c.2904C>T (p.Val968=)
c.2805C>T (p.Val935=)
c.1986C>T (p.Val662=)
n.3537C>T
 ClinVar dbSNP gnomAD v4
13g.51942480G>CCA483894426ATP7Bc.*968C>G (n.*968C>G)
c.*2062C>G (n.*2062C>G)
c.2697C>G (p.Val899=)
c.3318C>G (p.Val1106=)
c.2985C>G (p.Val995=)
c.3066C>G (p.Val1022=)
c.3084C>G (p.Val1028=)
n.3457C>G
n.3681C>G
c.2253C>G (p.Val751=)
c.2028C>G (p.Val676=)
c.3123C>G (p.Val1041=)
c.1096C>G
c.*419C>G (n.*419C>G)
n.4062C>G
n.2663C>G
c.3174C>G (p.Val1058=)
c.3222C>G (p.Val1074=)
c.3282C>G (p.Val1094=)
c.2832C>G (p.Val944=)
c.1134C>G (p.Val378=)
c.951C>G (p.Val317=)
c.3183C>G (p.Val1061=)
c.3135C>G (p.Val1045=)
c.2904C>G (p.Val968=)
c.2805C>G (p.Val935=)
c.1986C>G (p.Val662=)
n.3537C>G
13g.51942480G>TCA483894427ATP7Bc.*968C>A (n.*968C>A)
c.*2062C>A (n.*2062C>A)
c.2697C>A (p.Val899=)
c.3318C>A (p.Val1106=)
c.2985C>A (p.Val995=)
c.3066C>A (p.Val1022=)
c.3084C>A (p.Val1028=)
n.3457C>A
n.3681C>A
c.2253C>A (p.Val751=)
c.2028C>A (p.Val676=)
c.3123C>A (p.Val1041=)
c.1096C>A
c.*419C>A (n.*419C>A)
n.4062C>A
n.2663C>A
c.3174C>A (p.Val1058=)
c.3222C>A (p.Val1074=)
c.3282C>A (p.Val1094=)
c.2832C>A (p.Val944=)
c.1134C>A (p.Val378=)
c.951C>A (p.Val317=)
c.3183C>A (p.Val1061=)
c.3135C>A (p.Val1045=)
c.2904C>A (p.Val968=)
c.2805C>A (p.Val935=)
c.1986C>A (p.Val662=)
n.3537C>A
13g.51942481A=CA2091561513ATP7Bc.*967T= (n.*967T=)
c.*2061T= (n.*2061T=)
c.2696T= (p.Val899=)
c.3317T= (p.Val1106=)
c.2984T= (p.Val995=)
c.3065T= (p.Val1022=)
c.3083T= (p.Val1028=)
n.3456T=
n.3680T=
c.2252T= (p.Val751=)
c.2027T= (p.Val676=)
c.3122T= (p.Val1041=)
c.1095T=
c.*418T= (n.*418T=)
n.4061T=
n.2662T=
c.3173T= (p.Val1058=)
c.3221T= (p.Val1074=)
c.3281T= (p.Val1094=)
c.2831T= (p.Val944=)
c.1133T= (p.Val378=)
c.950T= (p.Val317=)
c.3182T= (p.Val1061=)
c.3134T= (p.Val1045=)
c.2903T= (p.Val968=)
c.2804T= (p.Val935=)
c.1985T= (p.Val662=)
n.3536T=
13g.51942481A>CCA388028420ATP7Bc.*967T>G (n.*967T>G)
c.*2061T>G (n.*2061T>G)
c.2696T>G (p.Val899Gly)
c.3317T>G (p.Val1106Gly)
c.2984T>G (p.Val995Gly)
c.3065T>G (p.Val1022Gly)
c.3083T>G (p.Val1028Gly)
n.3456T>G
n.3680T>G
c.2252T>G (p.Val751Gly)
c.2027T>G (p.Val676Gly)
c.3122T>G (p.Val1041Gly)
c.1095T>G
c.*418T>G (n.*418T>G)
n.4061T>G
n.2662T>G
c.3173T>G (p.Val1058Gly)
c.3221T>G (p.Val1074Gly)
c.3281T>G (p.Val1094Gly)
c.2831T>G (p.Val944Gly)
c.1133T>G (p.Val378Gly)
c.950T>G (p.Val317Gly)
c.3182T>G (p.Val1061Gly)
c.3134T>G (p.Val1045Gly)
c.2903T>G (p.Val968Gly)
c.2804T>G (p.Val935Gly)
c.1985T>G (p.Val662Gly)
n.3536T>G
13g.51942481A>GCA388028419ATP7Bc.*967T>C (n.*967T>C)
c.*2061T>C (n.*2061T>C)
c.2696T>C (p.Val899Ala)
c.3317T>C (p.Val1106Ala)
c.2984T>C (p.Val995Ala)
c.3065T>C (p.Val1022Ala)
c.3083T>C (p.Val1028Ala)
n.3456T>C
n.3680T>C
c.2252T>C (p.Val751Ala)
c.2027T>C (p.Val676Ala)
c.3122T>C (p.Val1041Ala)
c.1095T>C
c.*418T>C (n.*418T>C)
n.4061T>C
n.2662T>C
c.3173T>C (p.Val1058Ala)
c.3221T>C (p.Val1074Ala)
c.3281T>C (p.Val1094Ala)
c.2831T>C (p.Val944Ala)
c.1133T>C (p.Val378Ala)
c.950T>C (p.Val317Ala)
c.3182T>C (p.Val1061Ala)
c.3134T>C (p.Val1045Ala)
c.2903T>C (p.Val968Ala)
c.2804T>C (p.Val935Ala)
c.1985T>C (p.Val662Ala)
n.3536T>C
 COSMIC
13g.51942481A>TCA6988740ATP7Bc.*967T>A (n.*967T>A)
c.*2061T>A (n.*2061T>A)
c.2696T>A (p.Val899Asp)
c.3317T>A (p.Val1106Asp)
c.2984T>A (p.Val995Asp)
c.3065T>A (p.Val1022Asp)
c.3083T>A (p.Val1028Asp)
n.3456T>A
n.3680T>A
c.2252T>A (p.Val751Asp)
c.2027T>A (p.Val676Asp)
c.3122T>A (p.Val1041Asp)
c.1095T>A
c.*418T>A (n.*418T>A)
n.4061T>A
n.2662T>A
c.3173T>A (p.Val1058Asp)
c.3221T>A (p.Val1074Asp)
c.3281T>A (p.Val1094Asp)
c.2831T>A (p.Val944Asp)
c.1133T>A (p.Val378Asp)
c.950T>A (p.Val317Asp)
c.3182T>A (p.Val1061Asp)
c.3134T>A (p.Val1045Asp)
c.2903T>A (p.Val968Asp)
c.2804T>A (p.Val935Asp)
c.1985T>A (p.Val662Asp)
n.3536T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51942481_51942482dupCA2697551886ATP7Bc.*966_*967dup (n.*966_*967dup)
c.*2060_*2061dup (n.*2060_*2061dup)
c.2695_2696dup (p.Asn901AlafsTer14)
c.3316_3317dup (p.Asn1108AlafsTer14)
c.2983_2984dup (p.Asn997AlafsTer14)
c.3064_3065dup (p.Asn1024AlafsTer14)
c.3082_3083dup (p.Asn1030AlafsTer14)
n.3455_3456dup
n.3679_3680dup
c.2251_2252dup (p.Asn753AlafsTer14)
c.2026_2027dup (p.Asn678AlafsTer14)
c.3121_3122dup (p.Asn1043AlafsTer14)
c.1094_1095dup
c.*417_*418dup (n.*417_*418dup)
n.4060_4061dup
n.2661_2662dup
c.3172_3173dup (p.Asn1060AlafsTer14)
c.3220_3221dup (p.Asn1076AlafsTer14)
c.3280_3281dup (p.Asn1096AlafsTer14)
c.2830_2831dup (p.Asn946AlafsTer14)
c.1132_1133dup (p.Asn380AlafsTer14)
c.949_950dup (p.Asn319AlafsTer14)
c.3181_3182dup (p.Asn1063AlafsTer14)
c.3133_3134dup (p.Asn1047AlafsTer14)
c.2902_2903dup (p.Asn970AlafsTer14)
c.2803_2804dup (p.Asn937AlafsTer14)
c.1984_1985dup (p.Asn664AlafsTer14)
n.3535_3536dup
 ClinVar
13g.51942482C>ACA388028421ATP7Bc.*966G>T (n.*966G>T)
c.*2060G>T (n.*2060G>T)
c.2695G>T (p.Val899Phe)
c.3316G>T (p.Val1106Phe)
c.2983G>T (p.Val995Phe)
c.3064G>T (p.Val1022Phe)
c.3082G>T (p.Val1028Phe)
n.3455G>T
n.3679G>T
c.2251G>T (p.Val751Phe)
c.2026G>T (p.Val676Phe)
c.3121G>T (p.Val1041Phe)
c.1094G>T
c.*417G>T (n.*417G>T)
n.4060G>T
n.2661G>T
c.3172G>T (p.Val1058Phe)
c.3220G>T (p.Val1074Phe)
c.3280G>T (p.Val1094Phe)
c.2830G>T (p.Val944Phe)
c.1132G>T (p.Val378Phe)
c.949G>T (p.Val317Phe)
c.3181G>T (p.Val1061Phe)
c.3133G>T (p.Val1045Phe)
c.2902G>T (p.Val968Phe)
c.2803G>T (p.Val935Phe)
c.1984G>T (p.Val662Phe)
n.3535G>T
13g.51942482C=CA2091561519ATP7Bc.*966G= (n.*966G=)
c.*2060G= (n.*2060G=)
c.2695G= (p.Val899=)
c.3316G= (p.Val1106=)
c.2983G= (p.Val995=)
c.3064G= (p.Val1022=)
c.3082G= (p.Val1028=)
n.3455G=
n.3679G=
c.2251G= (p.Val751=)
c.2026G= (p.Val676=)
c.3121G= (p.Val1041=)
c.1094G=
c.*417G= (n.*417G=)
n.4060G=
n.2661G=
c.3172G= (p.Val1058=)
c.3220G= (p.Val1074=)
c.3280G= (p.Val1094=)
c.2830G= (p.Val944=)
c.1132G= (p.Val378=)
c.949G= (p.Val317=)
c.3181G= (p.Val1061=)
c.3133G= (p.Val1045=)
c.2902G= (p.Val968=)
c.2803G= (p.Val935=)
c.1984G= (p.Val662=)
n.3535G=
13g.51942482C>GCA388028423ATP7Bc.*966G>C (n.*966G>C)
c.*2060G>C (n.*2060G>C)
c.2695G>C (p.Val899Leu)
c.3316G>C (p.Val1106Leu)
c.2983G>C (p.Val995Leu)
c.3064G>C (p.Val1022Leu)
c.3082G>C (p.Val1028Leu)
n.3455G>C
n.3679G>C
c.2251G>C (p.Val751Leu)
c.2026G>C (p.Val676Leu)
c.3121G>C (p.Val1041Leu)
c.1094G>C
c.*417G>C (n.*417G>C)
n.4060G>C
n.2661G>C
c.3172G>C (p.Val1058Leu)
c.3220G>C (p.Val1074Leu)
c.3280G>C (p.Val1094Leu)
c.2830G>C (p.Val944Leu)
c.1132G>C (p.Val378Leu)
c.949G>C (p.Val317Leu)
c.3181G>C (p.Val1061Leu)
c.3133G>C (p.Val1045Leu)
c.2902G>C (p.Val968Leu)
c.2803G>C (p.Val935Leu)
c.1984G>C (p.Val662Leu)
n.3535G>C
 ClinVar dbSNP
13g.51942482C>TCA6988741ATP7Bc.*966G>A (n.*966G>A)
c.*2060G>A (n.*2060G>A)
c.2695G>A (p.Val899Ile)
c.3316G>A (p.Val1106Ile)
c.2983G>A (p.Val995Ile)
c.3064G>A (p.Val1022Ile)
c.3082G>A (p.Val1028Ile)
n.3455G>A
n.3679G>A
c.2251G>A (p.Val751Ile)
c.2026G>A (p.Val676Ile)
c.3121G>A (p.Val1041Ile)
c.1094G>A
c.*417G>A (n.*417G>A)
n.4060G>A
n.2661G>A
c.3172G>A (p.Val1058Ile)
c.3220G>A (p.Val1074Ile)
c.3280G>A (p.Val1094Ile)
c.2830G>A (p.Val944Ile)
c.1132G>A (p.Val378Ile)
c.949G>A (p.Val317Ile)
c.3181G>A (p.Val1061Ile)
c.3133G>A (p.Val1045Ile)
c.2902G>A (p.Val968Ile)
c.2803G>A (p.Val935Ile)
c.1984G>A (p.Val662Ile)
n.3535G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51942483T>ACA388028426ATP7Bc.*965A>T (n.*965A>T)
c.*2059A>T (n.*2059A>T)
c.2694A>T (p.Lys898Asn)
c.3315A>T (p.Lys1105Asn)
c.2982A>T (p.Lys994Asn)
c.3063A>T (p.Lys1021Asn)
c.3081A>T (p.Lys1027Asn)
n.3454A>T
n.3678A>T
c.2250A>T (p.Lys750Asn)
c.2025A>T (p.Lys675Asn)
c.3120A>T (p.Lys1040Asn)
c.1093A>T
c.*416A>T (n.*416A>T)
n.4059A>T
n.2660A>T
c.3171A>T (p.Lys1057Asn)
c.3219A>T (p.Lys1073Asn)
c.3279A>T (p.Lys1093Asn)
c.2829A>T (p.Lys943Asn)
c.1131A>T (p.Lys377Asn)
c.948A>T (p.Lys316Asn)
c.3180A>T (p.Lys1060Asn)
c.3132A>T (p.Lys1044Asn)
c.2901A>T (p.Lys967Asn)
c.2802A>T (p.Lys934Asn)
c.1983A>T (p.Lys661Asn)
n.3534A>T
13g.51942483T>CCA483894433ATP7Bc.*965A>G (n.*965A>G)
c.*2059A>G (n.*2059A>G)
c.2694A>G (p.Lys898=)
c.3315A>G (p.Lys1105=)
c.2982A>G (p.Lys994=)
c.3063A>G (p.Lys1021=)
c.3081A>G (p.Lys1027=)
n.3454A>G
n.3678A>G
c.2250A>G (p.Lys750=)
c.2025A>G (p.Lys675=)
c.3120A>G (p.Lys1040=)
c.1093A>G
c.*416A>G (n.*416A>G)
n.4059A>G
n.2660A>G
c.3171A>G (p.Lys1057=)
c.3219A>G (p.Lys1073=)
c.3279A>G (p.Lys1093=)
c.2829A>G (p.Lys943=)
c.1131A>G (p.Lys377=)
c.948A>G (p.Lys316=)
c.3180A>G (p.Lys1060=)
c.3132A>G (p.Lys1044=)
c.2901A>G (p.Lys967=)
c.2802A>G (p.Lys934=)
c.1983A>G (p.Lys661=)
n.3534A>G
13g.51942483T>GCA388028429ATP7Bc.*965A>C (n.*965A>C)
c.*2059A>C (n.*2059A>C)
c.2694A>C (p.Lys898Asn)
c.3315A>C (p.Lys1105Asn)
c.2982A>C (p.Lys994Asn)
c.3063A>C (p.Lys1021Asn)
c.3081A>C (p.Lys1027Asn)
n.3454A>C
n.3678A>C
c.2250A>C (p.Lys750Asn)
c.2025A>C (p.Lys675Asn)
c.3120A>C (p.Lys1040Asn)
c.1093A>C
c.*416A>C (n.*416A>C)
n.4059A>C
n.2660A>C
c.3171A>C (p.Lys1057Asn)
c.3219A>C (p.Lys1073Asn)
c.3279A>C (p.Lys1093Asn)
c.2829A>C (p.Lys943Asn)
c.1131A>C (p.Lys377Asn)
c.948A>C (p.Lys316Asn)
c.3180A>C (p.Lys1060Asn)
c.3132A>C (p.Lys1044Asn)
c.2901A>C (p.Lys967Asn)
c.2802A>C (p.Lys934Asn)
c.1983A>C (p.Lys661Asn)
n.3534A>C
13g.51942484T>ACA388028433ATP7Bc.*964A>T (n.*964A>T)
c.*2058A>T (n.*2058A>T)
c.2693A>T (p.Lys898Ile)
c.3314A>T (p.Lys1105Ile)
c.2981A>T (p.Lys994Ile)
c.3062A>T (p.Lys1021Ile)
c.3080A>T (p.Lys1027Ile)
n.3453A>T
n.3677A>T
c.2249A>T (p.Lys750Ile)
c.2024A>T (p.Lys675Ile)
c.3119A>T (p.Lys1040Ile)
c.1092A>T
c.*415A>T (n.*415A>T)
n.4058A>T
n.2659A>T
c.3170A>T (p.Lys1057Ile)
c.3218A>T (p.Lys1073Ile)
c.3278A>T (p.Lys1093Ile)
c.2828A>T (p.Lys943Ile)
c.1130A>T (p.Lys377Ile)
c.947A>T (p.Lys316Ile)
c.3179A>T (p.Lys1060Ile)
c.3131A>T (p.Lys1044Ile)
c.2900A>T (p.Lys967Ile)
c.2801A>T (p.Lys934Ile)
c.1982A>T (p.Lys661Ile)
n.3533A>T
13g.51942484T>CCA388028435ATP7Bc.*964A>G (n.*964A>G)
c.*2058A>G (n.*2058A>G)
c.2693A>G (p.Lys898Arg)
c.3314A>G (p.Lys1105Arg)
c.2981A>G (p.Lys994Arg)
c.3062A>G (p.Lys1021Arg)
c.3080A>G (p.Lys1027Arg)
n.3453A>G
n.3677A>G
c.2249A>G (p.Lys750Arg)
c.2024A>G (p.Lys675Arg)
c.3119A>G (p.Lys1040Arg)
c.1092A>G
c.*415A>G (n.*415A>G)
n.4058A>G
n.2659A>G
c.3170A>G (p.Lys1057Arg)
c.3218A>G (p.Lys1073Arg)
c.3278A>G (p.Lys1093Arg)
c.2828A>G (p.Lys943Arg)
c.1130A>G (p.Lys377Arg)
c.947A>G (p.Lys316Arg)
c.3179A>G (p.Lys1060Arg)
c.3131A>G (p.Lys1044Arg)
c.2900A>G (p.Lys967Arg)
c.2801A>G (p.Lys934Arg)
c.1982A>G (p.Lys661Arg)
n.3533A>G
13g.51942484T>GCA388028440ATP7Bc.*964A>C (n.*964A>C)
c.*2058A>C (n.*2058A>C)
c.2693A>C (p.Lys898Thr)
c.3314A>C (p.Lys1105Thr)
c.2981A>C (p.Lys994Thr)
c.3062A>C (p.Lys1021Thr)
c.3080A>C (p.Lys1027Thr)
n.3453A>C
n.3677A>C
c.2249A>C (p.Lys750Thr)
c.2024A>C (p.Lys675Thr)
c.3119A>C (p.Lys1040Thr)
c.1092A>C
c.*415A>C (n.*415A>C)
n.4058A>C
n.2659A>C
c.3170A>C (p.Lys1057Thr)
c.3218A>C (p.Lys1073Thr)
c.3278A>C (p.Lys1093Thr)
c.2828A>C (p.Lys943Thr)
c.1130A>C (p.Lys377Thr)
c.947A>C (p.Lys316Thr)
c.3179A>C (p.Lys1060Thr)
c.3131A>C (p.Lys1044Thr)
c.2900A>C (p.Lys967Thr)
c.2801A>C (p.Lys934Thr)
c.1982A>C (p.Lys661Thr)
n.3533A>C
13g.51942485T>ACA388028444ATP7Bc.*963A>T (n.*963A>T)
c.*2057A>T (n.*2057A>T)
c.2692A>T (p.Lys898Ter)
c.3313A>T (p.Lys1105Ter)
c.2980A>T (p.Lys994Ter)
c.3061A>T (p.Lys1021Ter)
c.3079A>T (p.Lys1027Ter)
n.3452A>T
n.3676A>T
c.2248A>T (p.Lys750Ter)
c.2023A>T (p.Lys675Ter)
c.3118A>T (p.Lys1040Ter)
c.1091A>T
c.*414A>T (n.*414A>T)
n.4057A>T
n.2658A>T
c.3169A>T (p.Lys1057Ter)
c.3217A>T (p.Lys1073Ter)
c.3277A>T (p.Lys1093Ter)
c.2827A>T (p.Lys943Ter)
c.1129A>T (p.Lys377Ter)
c.946A>T (p.Lys316Ter)
c.3178A>T (p.Lys1060Ter)
c.3130A>T (p.Lys1044Ter)
c.2899A>T (p.Lys967Ter)
c.2800A>T (p.Lys934Ter)
c.1981A>T (p.Lys661Ter)
n.3532A>T
 ClinVar dbSNP
13g.51942485T>CCA388028448ATP7Bc.*963A>G (n.*963A>G)
c.*2057A>G (n.*2057A>G)
c.2692A>G (p.Lys898Glu)
c.3313A>G (p.Lys1105Glu)
c.2980A>G (p.Lys994Glu)
c.3061A>G (p.Lys1021Glu)
c.3079A>G (p.Lys1027Glu)
n.3452A>G
n.3676A>G
c.2248A>G (p.Lys750Glu)
c.2023A>G (p.Lys675Glu)
c.3118A>G (p.Lys1040Glu)
c.1091A>G
c.*414A>G (n.*414A>G)
n.4057A>G
n.2658A>G
c.3169A>G (p.Lys1057Glu)
c.3217A>G (p.Lys1073Glu)
c.3277A>G (p.Lys1093Glu)
c.2827A>G (p.Lys943Glu)
c.1129A>G (p.Lys377Glu)
c.946A>G (p.Lys316Glu)
c.3178A>G (p.Lys1060Glu)
c.3130A>G (p.Lys1044Glu)
c.2899A>G (p.Lys967Glu)
c.2800A>G (p.Lys934Glu)
c.1981A>G (p.Lys661Glu)
n.3532A>G
 ClinVar dbSNP gnomAD v4
13g.51942485T>GCA388028453ATP7Bc.*963A>C (n.*963A>C)
c.*2057A>C (n.*2057A>C)
c.2692A>C (p.Lys898Gln)
c.3313A>C (p.Lys1105Gln)
c.2980A>C (p.Lys994Gln)
c.3061A>C (p.Lys1021Gln)
c.3079A>C (p.Lys1027Gln)
n.3452A>C
n.3676A>C
c.2248A>C (p.Lys750Gln)
c.2023A>C (p.Lys675Gln)
c.3118A>C (p.Lys1040Gln)
c.1091A>C
c.*414A>C (n.*414A>C)
n.4057A>C
n.2658A>C
c.3169A>C (p.Lys1057Gln)
c.3217A>C (p.Lys1073Gln)
c.3277A>C (p.Lys1093Gln)
c.2827A>C (p.Lys943Gln)
c.1129A>C (p.Lys377Gln)
c.946A>C (p.Lys316Gln)
c.3178A>C (p.Lys1060Gln)
c.3130A>C (p.Lys1044Gln)
c.2899A>C (p.Lys967Gln)
c.2800A>C (p.Lys934Gln)
c.1981A>C (p.Lys661Gln)
n.3532A>C
13g.51942485T=CA2091561522ATP7Bc.*963A= (n.*963A=)
c.*2057A= (n.*2057A=)
c.2692A= (p.Lys898=)
c.3313A= (p.Lys1105=)
c.2980A= (p.Lys994=)
c.3061A= (p.Lys1021=)
c.3079A= (p.Lys1027=)
n.3452A=
n.3676A=
c.2248A= (p.Lys750=)
c.2023A= (p.Lys675=)
c.3118A= (p.Lys1040=)
c.1091A=
c.*414A= (n.*414A=)
n.4057A=
n.2658A=
c.3169A= (p.Lys1057=)
c.3217A= (p.Lys1073=)
c.3277A= (p.Lys1093=)
c.2827A= (p.Lys943=)
c.1129A= (p.Lys377=)
c.946A= (p.Lys316=)
c.3178A= (p.Lys1060=)
c.3130A= (p.Lys1044=)
c.2899A= (p.Lys967=)
c.2800A= (p.Lys934=)
c.1981A= (p.Lys661=)
n.3532A=
13g.51942486G>ACA483894436ATP7Bc.*962C>T (n.*962C>T)
c.*2056C>T (n.*2056C>T)
c.2691C>T (p.Cys897=)
c.3312C>T (p.Cys1104=)
c.2979C>T (p.Cys993=)
c.3060C>T (p.Cys1020=)
c.3078C>T (p.Cys1026=)
n.3451C>T
n.3675C>T
c.2247C>T (p.Cys749=)
c.2022C>T (p.Cys674=)
c.3117C>T (p.Cys1039=)
c.1090C>T
c.*413C>T (n.*413C>T)
n.4056C>T
n.2657C>T
c.3168C>T (p.Cys1056=)
c.3216C>T (p.Cys1072=)
c.3276C>T (p.Cys1092=)
c.2826C>T (p.Cys942=)
c.1128C>T (p.Cys376=)
c.945C>T (p.Cys315=)
c.3177C>T (p.Cys1059=)
c.3129C>T (p.Cys1043=)
c.2898C>T (p.Cys966=)
c.2799C>T (p.Cys933=)
c.1980C>T (p.Cys660=)
n.3531C>T
13g.51942486G>CCA388028462ATP7Bc.*962C>G (n.*962C>G)
c.*2056C>G (n.*2056C>G)
c.2691C>G (p.Cys897Trp)
c.3312C>G (p.Cys1104Trp)
c.2979C>G (p.Cys993Trp)
c.3060C>G (p.Cys1020Trp)
c.3078C>G (p.Cys1026Trp)
n.3451C>G
n.3675C>G
c.2247C>G (p.Cys749Trp)
c.2022C>G (p.Cys674Trp)
c.3117C>G (p.Cys1039Trp)
c.1090C>G
c.*413C>G (n.*413C>G)
n.4056C>G
n.2657C>G
c.3168C>G (p.Cys1056Trp)
c.3216C>G (p.Cys1072Trp)
c.3276C>G (p.Cys1092Trp)
c.2826C>G (p.Cys942Trp)
c.1128C>G (p.Cys376Trp)
c.945C>G (p.Cys315Trp)
c.3177C>G (p.Cys1059Trp)
c.3129C>G (p.Cys1043Trp)
c.2898C>G (p.Cys966Trp)
c.2799C>G (p.Cys933Trp)
c.1980C>G (p.Cys660Trp)
n.3531C>G
13g.51942486G>TCA388028459ATP7Bc.*962C>A (n.*962C>A)
c.*2056C>A (n.*2056C>A)
c.2691C>A (p.Cys897Ter)
c.3312C>A (p.Cys1104Ter)
c.2979C>A (p.Cys993Ter)
c.3060C>A (p.Cys1020Ter)
c.3078C>A (p.Cys1026Ter)
n.3451C>A
n.3675C>A
c.2247C>A (p.Cys749Ter)
c.2022C>A (p.Cys674Ter)
c.3117C>A (p.Cys1039Ter)
c.1090C>A
c.*413C>A (n.*413C>A)
n.4056C>A
n.2657C>A
c.3168C>A (p.Cys1056Ter)
c.3216C>A (p.Cys1072Ter)
c.3276C>A (p.Cys1092Ter)
c.2826C>A (p.Cys942Ter)
c.1128C>A (p.Cys376Ter)
c.945C>A (p.Cys315Ter)
c.3177C>A (p.Cys1059Ter)
c.3129C>A (p.Cys1043Ter)
c.2898C>A (p.Cys966Ter)
c.2799C>A (p.Cys933Ter)
c.1980C>A (p.Cys660Ter)
n.3531C>A
 ClinVar
13g.51942487C>ACA388028466ATP7Bc.*961G>T (n.*961G>T)
c.*2055G>T (n.*2055G>T)
c.2690G>T (p.Cys897Phe)
c.3311G>T (p.Cys1104Phe)
c.2978G>T (p.Cys993Phe)
c.3059G>T (p.Cys1020Phe)
c.3077G>T (p.Cys1026Phe)
n.3450G>T
n.3674G>T
c.2246G>T (p.Cys749Phe)
c.2021G>T (p.Cys674Phe)
c.3116G>T (p.Cys1039Phe)
c.1089G>T
c.*412G>T (n.*412G>T)
n.4055G>T
n.2656G>T
c.3167G>T (p.Cys1056Phe)
c.3215G>T (p.Cys1072Phe)
c.3275G>T (p.Cys1092Phe)
c.2825G>T (p.Cys942Phe)
c.1127G>T (p.Cys376Phe)
c.944G>T (p.Cys315Phe)
c.3176G>T (p.Cys1059Phe)
c.3128G>T (p.Cys1043Phe)
c.2897G>T (p.Cys966Phe)
c.2798G>T (p.Cys933Phe)
c.1979G>T (p.Cys660Phe)
n.3530G>T
 ClinVar
13g.51942487C=CA2091561526ATP7Bc.*961G= (n.*961G=)
c.*2055G= (n.*2055G=)
c.2690G= (p.Cys897=)
c.3311G= (p.Cys1104=)
c.2978G= (p.Cys993=)
c.3059G= (p.Cys1020=)
c.3077G= (p.Cys1026=)
n.3450G=
n.3674G=
c.2246G= (p.Cys749=)
c.2021G= (p.Cys674=)
c.3116G= (p.Cys1039=)
c.1089G=
c.*412G= (n.*412G=)
n.4055G=
n.2656G=
c.3167G= (p.Cys1056=)
c.3215G= (p.Cys1072=)
c.3275G= (p.Cys1092=)
c.2825G= (p.Cys942=)
c.1127G= (p.Cys376=)
c.944G= (p.Cys315=)
c.3176G= (p.Cys1059=)
c.3128G= (p.Cys1043=)
c.2897G= (p.Cys966=)
c.2798G= (p.Cys933=)
c.1979G= (p.Cys660=)
n.3530G=
13g.51942487C>GCA388028471ATP7Bc.*961G>C (n.*961G>C)
c.*2055G>C (n.*2055G>C)
c.2690G>C (p.Cys897Ser)
c.3311G>C (p.Cys1104Ser)
c.2978G>C (p.Cys993Ser)
c.3059G>C (p.Cys1020Ser)
c.3077G>C (p.Cys1026Ser)
n.3450G>C
n.3674G>C
c.2246G>C (p.Cys749Ser)
c.2021G>C (p.Cys674Ser)
c.3116G>C (p.Cys1039Ser)
c.1089G>C
c.*412G>C (n.*412G>C)
n.4055G>C
n.2656G>C
c.3167G>C (p.Cys1056Ser)
c.3215G>C (p.Cys1072Ser)
c.3275G>C (p.Cys1092Ser)
c.2825G>C (p.Cys942Ser)
c.1127G>C (p.Cys376Ser)
c.944G>C (p.Cys315Ser)
c.3176G>C (p.Cys1059Ser)
c.3128G>C (p.Cys1043Ser)
c.2897G>C (p.Cys966Ser)
c.2798G>C (p.Cys933Ser)
c.1979G>C (p.Cys660Ser)
n.3530G>C
 gnomAD v4
13g.51942487C>TCA6988742ATP7Bc.*961G>A (n.*961G>A)
c.*2055G>A (n.*2055G>A)
c.2690G>A (p.Cys897Tyr)
c.3311G>A (p.Cys1104Tyr)
c.2978G>A (p.Cys993Tyr)
c.3059G>A (p.Cys1020Tyr)
c.3077G>A (p.Cys1026Tyr)
n.3450G>A
n.3674G>A
c.2246G>A (p.Cys749Tyr)
c.2021G>A (p.Cys674Tyr)
c.3116G>A (p.Cys1039Tyr)
c.1089G>A
c.*412G>A (n.*412G>A)
n.4055G>A
n.2656G>A
c.3167G>A (p.Cys1056Tyr)
c.3215G>A (p.Cys1072Tyr)
c.3275G>A (p.Cys1092Tyr)
c.2825G>A (p.Cys942Tyr)
c.1127G>A (p.Cys376Tyr)
c.944G>A (p.Cys315Tyr)
c.3176G>A (p.Cys1059Tyr)
c.3128G>A (p.Cys1043Tyr)
c.2897G>A (p.Cys966Tyr)
c.2798G>A (p.Cys933Tyr)
c.1979G>A (p.Cys660Tyr)
n.3530G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51942488A>CCA388028477ATP7Bc.*960T>G (n.*960T>G)
c.*2054T>G (n.*2054T>G)
c.2689T>G (p.Cys897Gly)
c.3310T>G (p.Cys1104Gly)
c.2977T>G (p.Cys993Gly)
c.3058T>G (p.Cys1020Gly)
c.3076T>G (p.Cys1026Gly)
n.3449T>G
n.3673T>G
c.2245T>G (p.Cys749Gly)
c.2020T>G (p.Cys674Gly)
c.3115T>G (p.Cys1039Gly)
c.1088T>G
c.*411T>G (n.*411T>G)
n.4054T>G
n.2655T>G
c.3166T>G (p.Cys1056Gly)
c.3214T>G (p.Cys1072Gly)
c.3274T>G (p.Cys1092Gly)
c.2824T>G (p.Cys942Gly)
c.1126T>G (p.Cys376Gly)
c.943T>G (p.Cys315Gly)
c.3175T>G (p.Cys1059Gly)
c.3127T>G (p.Cys1043Gly)
c.2896T>G (p.Cys966Gly)
c.2797T>G (p.Cys933Gly)
c.1978T>G (p.Cys660Gly)
n.3529T>G
13g.51942488A>GCA388028480ATP7Bc.*960T>C (n.*960T>C)
c.*2054T>C (n.*2054T>C)
c.2689T>C (p.Cys897Arg)
c.3310T>C (p.Cys1104Arg)
c.2977T>C (p.Cys993Arg)
c.3058T>C (p.Cys1020Arg)
c.3076T>C (p.Cys1026Arg)
n.3449T>C
n.3673T>C
c.2245T>C (p.Cys749Arg)
c.2020T>C (p.Cys674Arg)
c.3115T>C (p.Cys1039Arg)
c.1088T>C
c.*411T>C (n.*411T>C)
n.4054T>C
n.2655T>C
c.3166T>C (p.Cys1056Arg)
c.3214T>C (p.Cys1072Arg)
c.3274T>C (p.Cys1092Arg)
c.2824T>C (p.Cys942Arg)
c.1126T>C (p.Cys376Arg)
c.943T>C (p.Cys315Arg)
c.3175T>C (p.Cys1059Arg)
c.3127T>C (p.Cys1043Arg)
c.2896T>C (p.Cys966Arg)
c.2797T>C (p.Cys933Arg)
c.1978T>C (p.Cys660Arg)
n.3529T>C
13g.51942488A>TCA388028482ATP7Bc.*960T>A (n.*960T>A)
c.*2054T>A (n.*2054T>A)
c.2689T>A (p.Cys897Ser)
c.3310T>A (p.Cys1104Ser)
c.2977T>A (p.Cys993Ser)
c.3058T>A (p.Cys1020Ser)
c.3076T>A (p.Cys1026Ser)
n.3449T>A
n.3673T>A
c.2245T>A (p.Cys749Ser)
c.2020T>A (p.Cys674Ser)
c.3115T>A (p.Cys1039Ser)
c.1088T>A
c.*411T>A (n.*411T>A)
n.4054T>A
n.2655T>A
c.3166T>A (p.Cys1056Ser)
c.3214T>A (p.Cys1072Ser)
c.3274T>A (p.Cys1092Ser)
c.2824T>A (p.Cys942Ser)
c.1126T>A (p.Cys376Ser)
c.943T>A (p.Cys315Ser)
c.3175T>A (p.Cys1059Ser)
c.3127T>A (p.Cys1043Ser)
c.2896T>A (p.Cys966Ser)
c.2797T>A (p.Cys933Ser)
c.1978T>A (p.Cys660Ser)
n.3529T>A
13g.51942489C>ACA483894443ATP7Bc.*959G>T (n.*959G>T)
c.*2053G>T (n.*2053G>T)
c.2688G>T (p.Gly896=)
c.3309G>T (p.Gly1103=)
c.2976G>T (p.Gly992=)
c.3057G>T (p.Gly1019=)
c.3075G>T (p.Gly1025=)
n.3448G>T
n.3672G>T
c.2244G>T (p.Gly748=)
c.2019G>T (p.Gly673=)
c.3114G>T (p.Gly1038=)
c.1087G>T
c.*410G>T (n.*410G>T)
n.4053G>T
n.2654G>T
c.3165G>T (p.Gly1055=)
c.3213G>T (p.Gly1071=)
c.3273G>T (p.Gly1091=)
c.2823G>T (p.Gly941=)
c.1125G>T (p.Gly375=)
c.942G>T (p.Gly314=)
c.3174G>T (p.Gly1058=)
c.3126G>T (p.Gly1042=)
c.2895G>T (p.Gly965=)
c.2796G>T (p.Gly932=)
c.1977G>T (p.Gly659=)
n.3528G>T
13g.51942489C>GCA483894445ATP7Bc.*959G>C (n.*959G>C)
c.*2053G>C (n.*2053G>C)
c.2688G>C (p.Gly896=)
c.3309G>C (p.Gly1103=)
c.2976G>C (p.Gly992=)
c.3057G>C (p.Gly1019=)
c.3075G>C (p.Gly1025=)
n.3448G>C
n.3672G>C
c.2244G>C (p.Gly748=)
c.2019G>C (p.Gly673=)
c.3114G>C (p.Gly1038=)
c.1087G>C
c.*410G>C (n.*410G>C)
n.4053G>C
n.2654G>C
c.3165G>C (p.Gly1055=)
c.3213G>C (p.Gly1071=)
c.3273G>C (p.Gly1091=)
c.2823G>C (p.Gly941=)
c.1125G>C (p.Gly375=)
c.942G>C (p.Gly314=)
c.3174G>C (p.Gly1058=)
c.3126G>C (p.Gly1042=)
c.2895G>C (p.Gly965=)
c.2796G>C (p.Gly932=)
c.1977G>C (p.Gly659=)
n.3528G>C
13g.51942489C>TCA483894446ATP7Bc.*959G>A (n.*959G>A)
c.*2053G>A (n.*2053G>A)
c.2688G>A (p.Gly896=)
c.3309G>A (p.Gly1103=)
c.2976G>A (p.Gly992=)
c.3057G>A (p.Gly1019=)
c.3075G>A (p.Gly1025=)
n.3448G>A
n.3672G>A
c.2244G>A (p.Gly748=)
c.2019G>A (p.Gly673=)
c.3114G>A (p.Gly1038=)
c.1087G>A
c.*410G>A (n.*410G>A)
n.4053G>A
n.2654G>A
c.3165G>A (p.Gly1055=)
c.3213G>A (p.Gly1071=)
c.3273G>A (p.Gly1091=)
c.2823G>A (p.Gly941=)
c.1125G>A (p.Gly375=)
c.942G>A (p.Gly314=)
c.3174G>A (p.Gly1058=)
c.3126G>A (p.Gly1042=)
c.2895G>A (p.Gly965=)
c.2796G>A (p.Gly932=)
c.1977G>A (p.Gly659=)
n.3528G>A
13g.51942491delCA2695218729ATP7Bc.*959del (n.*959del)
c.*2053del (n.*2053del)
c.2688del (p.Cys897AlafsTer17)
c.3309del (p.Cys1104AlafsTer17)
c.2976del (p.Cys993AlafsTer17)
c.3057del (p.Cys1020AlafsTer17)
c.3075del (p.Cys1026AlafsTer17)
n.3448del
n.3672del
c.2244del (p.Cys749AlafsTer17)
c.2019del (p.Cys674AlafsTer17)
c.3114del (p.Cys1039AlafsTer17)
c.1087del
c.*410del (n.*410del)
n.4053del
n.2654del
c.3165del (p.Cys1056AlafsTer17)
c.3213del (p.Cys1072AlafsTer17)
c.3273del (p.Cys1092AlafsTer17)
c.2823del (p.Cys942AlafsTer17)
c.1125del (p.Cys376AlafsTer17)
c.942del (p.Cys315AlafsTer17)
c.3174del (p.Cys1059AlafsTer17)
c.3126del (p.Cys1043AlafsTer17)
c.2895del (p.Cys966AlafsTer17)
c.2796del (p.Cys933AlafsTer17)
c.1977del (p.Cys660AlafsTer17)
n.3528del
13g.51942490C>ACA388028485ATP7Bc.*958G>T (n.*958G>T)
c.*2052G>T (n.*2052G>T)
c.2687G>T (p.Gly896Val)
c.3308G>T (p.Gly1103Val)
c.2975G>T (p.Gly992Val)
c.3056G>T (p.Gly1019Val)
c.3074G>T (p.Gly1025Val)
n.3447G>T
n.3671G>T
c.2243G>T (p.Gly748Val)
c.2018G>T (p.Gly673Val)
c.3113G>T (p.Gly1038Val)
c.1086G>T
c.*409G>T (n.*409G>T)
n.4052G>T
n.2653G>T
c.3164G>T (p.Gly1055Val)
c.3212G>T (p.Gly1071Val)
c.3272G>T (p.Gly1091Val)
c.2822G>T (p.Gly941Val)
c.1124G>T (p.Gly375Val)
c.941G>T (p.Gly314Val)
c.3173G>T (p.Gly1058Val)
c.3125G>T (p.Gly1042Val)
c.2894G>T (p.Gly965Val)
c.2795G>T (p.Gly932Val)
c.1976G>T (p.Gly659Val)
n.3527G>T
13g.51942490C>GCA388028491ATP7Bc.*958G>C (n.*958G>C)
c.*2052G>C (n.*2052G>C)
c.2687G>C (p.Gly896Ala)
c.3308G>C (p.Gly1103Ala)
c.2975G>C (p.Gly992Ala)
c.3056G>C (p.Gly1019Ala)
c.3074G>C (p.Gly1025Ala)
n.3447G>C
n.3671G>C
c.2243G>C (p.Gly748Ala)
c.2018G>C (p.Gly673Ala)
c.3113G>C (p.Gly1038Ala)
c.1086G>C
c.*409G>C (n.*409G>C)
n.4052G>C
n.2653G>C
c.3164G>C (p.Gly1055Ala)
c.3212G>C (p.Gly1071Ala)
c.3272G>C (p.Gly1091Ala)
c.2822G>C (p.Gly941Ala)
c.1124G>C (p.Gly375Ala)
c.941G>C (p.Gly314Ala)
c.3173G>C (p.Gly1058Ala)
c.3125G>C (p.Gly1042Ala)
c.2894G>C (p.Gly965Ala)
c.2795G>C (p.Gly932Ala)
c.1976G>C (p.Gly659Ala)
n.3527G>C
13g.51942490C>TCA388028493ATP7Bc.*958G>A (n.*958G>A)
c.*2052G>A (n.*2052G>A)
c.2687G>A (p.Gly896Glu)
c.3308G>A (p.Gly1103Glu)
c.2975G>A (p.Gly992Glu)
c.3056G>A (p.Gly1019Glu)
c.3074G>A (p.Gly1025Glu)
n.3447G>A
n.3671G>A
c.2243G>A (p.Gly748Glu)
c.2018G>A (p.Gly673Glu)
c.3113G>A (p.Gly1038Glu)
c.1086G>A
c.*409G>A (n.*409G>A)
n.4052G>A
n.2653G>A
c.3164G>A (p.Gly1055Glu)
c.3212G>A (p.Gly1071Glu)
c.3272G>A (p.Gly1091Glu)
c.2822G>A (p.Gly941Glu)
c.1124G>A (p.Gly375Glu)
c.941G>A (p.Gly314Glu)
c.3173G>A (p.Gly1058Glu)
c.3125G>A (p.Gly1042Glu)
c.2894G>A (p.Gly965Glu)
c.2795G>A (p.Gly932Glu)
c.1976G>A (p.Gly659Glu)
n.3527G>A
 ClinVar
13g.51942491C>ACA388028497ATP7Bc.*957G>T (n.*957G>T)
c.*2051G>T (n.*2051G>T)
c.2686G>T (p.Gly896Trp)
c.3307G>T (p.Gly1103Trp)
c.2974G>T (p.Gly992Trp)
c.3055G>T (p.Gly1019Trp)
c.3073G>T (p.Gly1025Trp)
n.3446G>T
n.3670G>T
c.2242G>T (p.Gly748Trp)
c.2017G>T (p.Gly673Trp)
c.3112G>T (p.Gly1038Trp)
c.1085G>T
c.*408G>T (n.*408G>T)
n.4051G>T
n.2652G>T
c.3163G>T (p.Gly1055Trp)
c.3211G>T (p.Gly1071Trp)
c.3271G>T (p.Gly1091Trp)
c.2821G>T (p.Gly941Trp)
c.1123G>T (p.Gly375Trp)
c.940G>T (p.Gly314Trp)
c.3172G>T (p.Gly1058Trp)
c.3124G>T (p.Gly1042Trp)
c.2893G>T (p.Gly965Trp)
c.2794G>T (p.Gly932Trp)
c.1975G>T (p.Gly659Trp)
n.3526G>T
13g.51942491C>GCA388028499ATP7Bc.*957G>C (n.*957G>C)
c.*2051G>C (n.*2051G>C)
c.2686G>C (p.Gly896Arg)
c.3307G>C (p.Gly1103Arg)
c.2974G>C (p.Gly992Arg)
c.3055G>C (p.Gly1019Arg)
c.3073G>C (p.Gly1025Arg)
n.3446G>C
n.3670G>C
c.2242G>C (p.Gly748Arg)
c.2017G>C (p.Gly673Arg)
c.3112G>C (p.Gly1038Arg)
c.1085G>C
c.*408G>C (n.*408G>C)
n.4051G>C
n.2652G>C
c.3163G>C (p.Gly1055Arg)
c.3211G>C (p.Gly1071Arg)
c.3271G>C (p.Gly1091Arg)
c.2821G>C (p.Gly941Arg)
c.1123G>C (p.Gly375Arg)
c.940G>C (p.Gly314Arg)
c.3172G>C (p.Gly1058Arg)
c.3124G>C (p.Gly1042Arg)
c.2893G>C (p.Gly965Arg)
c.2794G>C (p.Gly932Arg)
c.1975G>C (p.Gly659Arg)
n.3526G>C
 COSMIC
13g.51942491C>TCA388028500ATP7Bc.*957G>A (n.*957G>A)
c.*2051G>A (n.*2051G>A)
c.2686G>A (p.Gly896Arg)
c.3307G>A (p.Gly1103Arg)
c.2974G>A (p.Gly992Arg)
c.3055G>A (p.Gly1019Arg)
c.3073G>A (p.Gly1025Arg)
n.3446G>A
n.3670G>A
c.2242G>A (p.Gly748Arg)
c.2017G>A (p.Gly673Arg)
c.3112G>A (p.Gly1038Arg)
c.1085G>A
c.*408G>A (n.*408G>A)
n.4051G>A
n.2652G>A
c.3163G>A (p.Gly1055Arg)
c.3211G>A (p.Gly1071Arg)
c.3271G>A (p.Gly1091Arg)
c.2821G>A (p.Gly941Arg)
c.1123G>A (p.Gly375Arg)
c.940G>A (p.Gly314Arg)
c.3172G>A (p.Gly1058Arg)
c.3124G>A (p.Gly1042Arg)
c.2893G>A (p.Gly965Arg)
c.2794G>A (p.Gly932Arg)
c.1975G>A (p.Gly659Arg)
n.3526G>A
13g.51942492A>CCA388028501ATP7Bc.*956T>G (n.*956T>G)
c.*2050T>G (n.*2050T>G)
c.2685T>G (p.Ile895Met)
c.3306T>G (p.Ile1102Met)
c.2973T>G (p.Ile991Met)
c.3054T>G (p.Ile1018Met)
c.3072T>G (p.Ile1024Met)
n.3445T>G
n.3669T>G
c.2241T>G (p.Ile747Met)
c.2016T>G (p.Ile672Met)
c.3111T>G (p.Ile1037Met)
c.1084T>G
c.*407T>G (n.*407T>G)
n.4050T>G
n.2651T>G
c.3162T>G (p.Ile1054Met)
c.3210T>G (p.Ile1070Met)
c.3270T>G (p.Ile1090Met)
c.2820T>G (p.Ile940Met)
c.1122T>G (p.Ile374Met)
c.939T>G (p.Ile313Met)
c.3171T>G (p.Ile1057Met)
c.3123T>G (p.Ile1041Met)
c.2892T>G (p.Ile964Met)
c.2793T>G (p.Ile931Met)
c.1974T>G (p.Ile658Met)
n.3525T>G
13g.51942492A>GCA483894449ATP7Bc.*956T>C (n.*956T>C)
c.*2050T>C (n.*2050T>C)
c.2685T>C (p.Ile895=)
c.3306T>C (p.Ile1102=)
c.2973T>C (p.Ile991=)
c.3054T>C (p.Ile1018=)
c.3072T>C (p.Ile1024=)
n.3445T>C
n.3669T>C
c.2241T>C (p.Ile747=)
c.2016T>C (p.Ile672=)
c.3111T>C (p.Ile1037=)
c.1084T>C
c.*407T>C (n.*407T>C)
n.4050T>C
n.2651T>C
c.3162T>C (p.Ile1054=)
c.3210T>C (p.Ile1070=)
c.3270T>C (p.Ile1090=)
c.2820T>C (p.Ile940=)
c.1122T>C (p.Ile374=)
c.939T>C (p.Ile313=)
c.3171T>C (p.Ile1057=)
c.3123T>C (p.Ile1041=)
c.2892T>C (p.Ile964=)
c.2793T>C (p.Ile931=)
c.1974T>C (p.Ile658=)
n.3525T>C
13g.51942492A>TCA483894450ATP7Bc.*956T>A (n.*956T>A)
c.*2050T>A (n.*2050T>A)
c.2685T>A (p.Ile895=)
c.3306T>A (p.Ile1102=)
c.2973T>A (p.Ile991=)
c.3054T>A (p.Ile1018=)
c.3072T>A (p.Ile1024=)
n.3445T>A
n.3669T>A
c.2241T>A (p.Ile747=)
c.2016T>A (p.Ile672=)
c.3111T>A (p.Ile1037=)
c.1084T>A
c.*407T>A (n.*407T>A)
n.4050T>A
n.2651T>A
c.3162T>A (p.Ile1054=)
c.3210T>A (p.Ile1070=)
c.3270T>A (p.Ile1090=)
c.2820T>A (p.Ile940=)
c.1122T>A (p.Ile374=)
c.939T>A (p.Ile313=)
c.3171T>A (p.Ile1057=)
c.3123T>A (p.Ile1041=)
c.2892T>A (p.Ile964=)
c.2793T>A (p.Ile931=)
c.1974T>A (p.Ile658=)
n.3525T>A
13g.51942493A=CA2091561533ATP7Bc.*955T= (n.*955T=)
c.*2049T= (n.*2049T=)
c.2684T= (p.Ile895=)
c.3305T= (p.Ile1102=)
c.2972T= (p.Ile991=)
c.3053T= (p.Ile1018=)
c.3071T= (p.Ile1024=)
n.3444T=
n.3668T=
c.2240T= (p.Ile747=)
c.2015T= (p.Ile672=)
c.3110T= (p.Ile1037=)
c.1083T=
c.*406T= (n.*406T=)
n.4049T=
n.2650T=
c.3161T= (p.Ile1054=)
c.3209T= (p.Ile1070=)
c.3269T= (p.Ile1090=)
c.2819T= (p.Ile940=)
c.1121T= (p.Ile374=)
c.938T= (p.Ile313=)
c.3170T= (p.Ile1057=)
c.3122T= (p.Ile1041=)
c.2891T= (p.Ile964=)
c.2792T= (p.Ile931=)
c.1973T= (p.Ile658=)
n.3524T=
13g.51942493A>CCA388028510ATP7Bc.*955T>G (n.*955T>G)
c.*2049T>G (n.*2049T>G)
c.2684T>G (p.Ile895Ser)
c.3305T>G (p.Ile1102Ser)
c.2972T>G (p.Ile991Ser)
c.3053T>G (p.Ile1018Ser)
c.3071T>G (p.Ile1024Ser)
n.3444T>G
n.3668T>G
c.2240T>G (p.Ile747Ser)
c.2015T>G (p.Ile672Ser)
c.3110T>G (p.Ile1037Ser)
c.1083T>G
c.*406T>G (n.*406T>G)
n.4049T>G
n.2650T>G
c.3161T>G (p.Ile1054Ser)
c.3209T>G (p.Ile1070Ser)
c.3269T>G (p.Ile1090Ser)
c.2819T>G (p.Ile940Ser)
c.1121T>G (p.Ile374Ser)
c.938T>G (p.Ile313Ser)
c.3170T>G (p.Ile1057Ser)
c.3122T>G (p.Ile1041Ser)
c.2891T>G (p.Ile964Ser)
c.2792T>G (p.Ile931Ser)
c.1973T>G (p.Ile658Ser)
n.3524T>G
13g.51942493A>GCA6988743ATP7Bc.*955T>C (n.*955T>C)
c.*2049T>C (n.*2049T>C)
c.2684T>C (p.Ile895Thr)
c.3305T>C (p.Ile1102Thr)
c.2972T>C (p.Ile991Thr)
c.3053T>C (p.Ile1018Thr)
c.3071T>C (p.Ile1024Thr)
n.3444T>C
n.3668T>C
c.2240T>C (p.Ile747Thr)
c.2015T>C (p.Ile672Thr)
c.3110T>C (p.Ile1037Thr)
c.1083T>C
c.*406T>C (n.*406T>C)
n.4049T>C
n.2650T>C
c.3161T>C (p.Ile1054Thr)
c.3209T>C (p.Ile1070Thr)
c.3269T>C (p.Ile1090Thr)
c.2819T>C (p.Ile940Thr)
c.1121T>C (p.Ile374Thr)
c.938T>C (p.Ile313Thr)
c.3170T>C (p.Ile1057Thr)
c.3122T>C (p.Ile1041Thr)
c.2891T>C (p.Ile964Thr)
c.2792T>C (p.Ile931Thr)
c.1973T>C (p.Ile658Thr)
n.3524T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51942493A>TCA388028503ATP7Bc.*955T>A (n.*955T>A)
c.*2049T>A (n.*2049T>A)
c.2684T>A (p.Ile895Asn)
c.3305T>A (p.Ile1102Asn)
c.2972T>A (p.Ile991Asn)
c.3053T>A (p.Ile1018Asn)
c.3071T>A (p.Ile1024Asn)
n.3444T>A
n.3668T>A
c.2240T>A (p.Ile747Asn)
c.2015T>A (p.Ile672Asn)
c.3110T>A (p.Ile1037Asn)
c.1083T>A
c.*406T>A (n.*406T>A)
n.4049T>A
n.2650T>A
c.3161T>A (p.Ile1054Asn)
c.3209T>A (p.Ile1070Asn)
c.3269T>A (p.Ile1090Asn)
c.2819T>A (p.Ile940Asn)
c.1121T>A (p.Ile374Asn)
c.938T>A (p.Ile313Asn)
c.3170T>A (p.Ile1057Asn)
c.3122T>A (p.Ile1041Asn)
c.2891T>A (p.Ile964Asn)
c.2792T>A (p.Ile931Asn)
c.1973T>A (p.Ile658Asn)
n.3524T>A
13g.51942494T>ACA388028513ATP7Bc.*954A>T (n.*954A>T)
c.*2048A>T (n.*2048A>T)
c.2683A>T (p.Ile895Phe)
c.3304A>T (p.Ile1102Phe)
c.2971A>T (p.Ile991Phe)
c.3052A>T (p.Ile1018Phe)
c.3070A>T (p.Ile1024Phe)
n.3443A>T
n.3667A>T
c.2239A>T (p.Ile747Phe)
c.2014A>T (p.Ile672Phe)
c.3109A>T (p.Ile1037Phe)
c.1082A>T
c.*405A>T (n.*405A>T)
n.4048A>T
n.2649A>T
c.3160A>T (p.Ile1054Phe)
c.3208A>T (p.Ile1070Phe)
c.3268A>T (p.Ile1090Phe)
c.2818A>T (p.Ile940Phe)
c.1120A>T (p.Ile374Phe)
c.937A>T (p.Ile313Phe)
c.3169A>T (p.Ile1057Phe)
c.3121A>T (p.Ile1041Phe)
c.2890A>T (p.Ile964Phe)
c.2791A>T (p.Ile931Phe)
c.1972A>T (p.Ile658Phe)
n.3523A>T
 ClinVar dbSNP
13g.51942494T>CCA388028515ATP7Bc.*954A>G (n.*954A>G)
c.*2048A>G (n.*2048A>G)
c.2683A>G (p.Ile895Val)
c.3304A>G (p.Ile1102Val)
c.2971A>G (p.Ile991Val)
c.3052A>G (p.Ile1018Val)
c.3070A>G (p.Ile1024Val)
n.3443A>G
n.3667A>G
c.2239A>G (p.Ile747Val)
c.2014A>G (p.Ile672Val)
c.3109A>G (p.Ile1037Val)
c.1082A>G
c.*405A>G (n.*405A>G)
n.4048A>G
n.2649A>G
c.3160A>G (p.Ile1054Val)
c.3208A>G (p.Ile1070Val)
c.3268A>G (p.Ile1090Val)
c.2818A>G (p.Ile940Val)
c.1120A>G (p.Ile374Val)
c.937A>G (p.Ile313Val)
c.3169A>G (p.Ile1057Val)
c.3121A>G (p.Ile1041Val)
c.2890A>G (p.Ile964Val)
c.2791A>G (p.Ile931Val)
c.1972A>G (p.Ile658Val)
n.3523A>G
13g.51942494T>GCA388028517ATP7Bc.*954A>C (n.*954A>C)
c.*2048A>C (n.*2048A>C)
c.2683A>C (p.Ile895Leu)
c.3304A>C (p.Ile1102Leu)
c.2971A>C (p.Ile991Leu)
c.3052A>C (p.Ile1018Leu)
c.3070A>C (p.Ile1024Leu)
n.3443A>C
n.3667A>C
c.2239A>C (p.Ile747Leu)
c.2014A>C (p.Ile672Leu)
c.3109A>C (p.Ile1037Leu)
c.1082A>C
c.*405A>C (n.*405A>C)
n.4048A>C
n.2649A>C
c.3160A>C (p.Ile1054Leu)
c.3208A>C (p.Ile1070Leu)
c.3268A>C (p.Ile1090Leu)
c.2818A>C (p.Ile940Leu)
c.1120A>C (p.Ile374Leu)
c.937A>C (p.Ile313Leu)
c.3169A>C (p.Ile1057Leu)
c.3121A>C (p.Ile1041Leu)
c.2890A>C (p.Ile964Leu)
c.2791A>C (p.Ile931Leu)
c.1972A>C (p.Ile658Leu)
n.3523A>C
13g.51942495T>ACA483894453ATP7Bc.*953A>T (n.*953A>T)
c.*2047A>T (n.*2047A>T)
c.2682A>T (p.Gly894=)
c.3303A>T (p.Gly1101=)
c.2970A>T (p.Gly990=)
c.3051A>T (p.Gly1017=)
c.3069A>T (p.Gly1023=)
n.3442A>T
n.3666A>T
c.2238A>T (p.Gly746=)
c.2013A>T (p.Gly671=)
c.3108A>T (p.Gly1036=)
c.1081A>T
c.*404A>T (n.*404A>T)
n.4047A>T
n.2648A>T
c.3159A>T (p.Gly1053=)
c.3207A>T (p.Gly1069=)
c.3267A>T (p.Gly1089=)
c.2817A>T (p.Gly939=)
c.1119A>T (p.Gly373=)
c.936A>T (p.Gly312=)
c.3168A>T (p.Gly1056=)
c.3120A>T (p.Gly1040=)
c.2889A>T (p.Gly963=)
c.2790A>T (p.Gly930=)
c.1971A>T (p.Gly657=)
n.3522A>T
13g.51942495T>CCA483894454ATP7Bc.*953A>G (n.*953A>G)
c.*2047A>G (n.*2047A>G)
c.2682A>G (p.Gly894=)
c.3303A>G (p.Gly1101=)
c.2970A>G (p.Gly990=)
c.3051A>G (p.Gly1017=)
c.3069A>G (p.Gly1023=)
n.3442A>G
n.3666A>G
c.2238A>G (p.Gly746=)
c.2013A>G (p.Gly671=)
c.3108A>G (p.Gly1036=)
c.1081A>G
c.*404A>G (n.*404A>G)
n.4047A>G
n.2648A>G
c.3159A>G (p.Gly1053=)
c.3207A>G (p.Gly1069=)
c.3267A>G (p.Gly1089=)
c.2817A>G (p.Gly939=)
c.1119A>G (p.Gly373=)
c.936A>G (p.Gly312=)
c.3168A>G (p.Gly1056=)
c.3120A>G (p.Gly1040=)
c.2889A>G (p.Gly963=)
c.2790A>G (p.Gly930=)
c.1971A>G (p.Gly657=)
n.3522A>G
13g.51942495T>GCA483894455ATP7Bc.*953A>C (n.*953A>C)
c.*2047A>C (n.*2047A>C)
c.2682A>C (p.Gly894=)
c.3303A>C (p.Gly1101=)
c.2970A>C (p.Gly990=)
c.3051A>C (p.Gly1017=)
c.3069A>C (p.Gly1023=)
n.3442A>C
n.3666A>C
c.2238A>C (p.Gly746=)
c.2013A>C (p.Gly671=)
c.3108A>C (p.Gly1036=)
c.1081A>C
c.*404A>C (n.*404A>C)
n.4047A>C
n.2648A>C
c.3159A>C (p.Gly1053=)
c.3207A>C (p.Gly1069=)
c.3267A>C (p.Gly1089=)
c.2817A>C (p.Gly939=)
c.1119A>C (p.Gly373=)
c.936A>C (p.Gly312=)
c.3168A>C (p.Gly1056=)
c.3120A>C (p.Gly1040=)
c.2889A>C (p.Gly963=)
c.2790A>C (p.Gly930=)
c.1971A>C (p.Gly657=)
n.3522A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51942495T=CA2091561539ATP7Bc.*953A= (n.*953A=)
c.*2047A= (n.*2047A=)
c.2682A= (p.Gly894=)
c.3303A= (p.Gly1101=)
c.2970A= (p.Gly990=)
c.3051A= (p.Gly1017=)
c.3069A= (p.Gly1023=)
n.3442A=
n.3666A=
c.2238A= (p.Gly746=)
c.2013A= (p.Gly671=)
c.3108A= (p.Gly1036=)
c.1081A=
c.*404A= (n.*404A=)
n.4047A=
n.2648A=
c.3159A= (p.Gly1053=)
c.3207A= (p.Gly1069=)
c.3267A= (p.Gly1089=)
c.2817A= (p.Gly939=)
c.1119A= (p.Gly373=)
c.936A= (p.Gly312=)
c.3168A= (p.Gly1056=)
c.3120A= (p.Gly1040=)
c.2889A= (p.Gly963=)
c.2790A= (p.Gly930=)
c.1971A= (p.Gly657=)
n.3522A=
13g.51942496C>ACA388028518ATP7Bc.*952G>T (n.*952G>T)
c.*2046G>T (n.*2046G>T)
c.2681G>T (p.Gly894Val)
c.3302G>T (p.Gly1101Val)
c.2969G>T (p.Gly990Val)
c.3050G>T (p.Gly1017Val)
c.3068G>T (p.Gly1023Val)
n.3441G>T
n.3665G>T
c.2237G>T (p.Gly746Val)
c.2012G>T (p.Gly671Val)
c.3107G>T (p.Gly1036Val)
c.1080G>T
c.*403G>T (n.*403G>T)
n.4046G>T
n.2647G>T
c.3158G>T (p.Gly1053Val)
c.3206G>T (p.Gly1069Val)
c.3266G>T (p.Gly1089Val)
c.2816G>T (p.Gly939Val)
c.1118G>T (p.Gly373Val)
c.935G>T (p.Gly312Val)
c.3167G>T (p.Gly1056Val)
c.3119G>T (p.Gly1040Val)
c.2888G>T (p.Gly963Val)
c.2789G>T (p.Gly930Val)
c.1970G>T (p.Gly657Val)
n.3521G>T
13g.51942496C=CA2091561545ATP7Bc.*952G= (n.*952G=)
c.*2046G= (n.*2046G=)
c.2681G= (p.Gly894=)
c.3302G= (p.Gly1101=)
c.2969G= (p.Gly990=)
c.3050G= (p.Gly1017=)
c.3068G= (p.Gly1023=)
n.3441G=
n.3665G=
c.2237G= (p.Gly746=)
c.2012G= (p.Gly671=)
c.3107G= (p.Gly1036=)
c.1080G=
c.*403G= (n.*403G=)
n.4046G=
n.2647G=
c.3158G= (p.Gly1053=)
c.3206G= (p.Gly1069=)
c.3266G= (p.Gly1089=)
c.2816G= (p.Gly939=)
c.1118G= (p.Gly373=)
c.935G= (p.Gly312=)
c.3167G= (p.Gly1056=)
c.3119G= (p.Gly1040=)
c.2888G= (p.Gly963=)
c.2789G= (p.Gly930=)
c.1970G= (p.Gly657=)
n.3521G=
13g.51942496C>GCA388028521ATP7Bc.*952G>C (n.*952G>C)
c.*2046G>C (n.*2046G>C)
c.2681G>C (p.Gly894Ala)
c.3302G>C (p.Gly1101Ala)
c.2969G>C (p.Gly990Ala)
c.3050G>C (p.Gly1017Ala)
c.3068G>C (p.Gly1023Ala)
n.3441G>C
n.3665G>C
c.2237G>C (p.Gly746Ala)
c.2012G>C (p.Gly671Ala)
c.3107G>C (p.Gly1036Ala)
c.1080G>C
c.*403G>C (n.*403G>C)
n.4046G>C
n.2647G>C
c.3158G>C (p.Gly1053Ala)
c.3206G>C (p.Gly1069Ala)
c.3266G>C (p.Gly1089Ala)
c.2816G>C (p.Gly939Ala)
c.1118G>C (p.Gly373Ala)
c.935G>C (p.Gly312Ala)
c.3167G>C (p.Gly1056Ala)
c.3119G>C (p.Gly1040Ala)
c.2888G>C (p.Gly963Ala)
c.2789G>C (p.Gly930Ala)
c.1970G>C (p.Gly657Ala)
n.3521G>C
13g.51942496C>TCA388028530ATP7Bc.*952G>A (n.*952G>A)
c.*2046G>A (n.*2046G>A)
c.2681G>A (p.Gly894Glu)
c.3302G>A (p.Gly1101Glu)
c.2969G>A (p.Gly990Glu)
c.3050G>A (p.Gly1017Glu)
c.3068G>A (p.Gly1023Glu)
n.3441G>A
n.3665G>A
c.2237G>A (p.Gly746Glu)
c.2012G>A (p.Gly671Glu)
c.3107G>A (p.Gly1036Glu)
c.1080G>A
c.*403G>A (n.*403G>A)
n.4046G>A
n.2647G>A
c.3158G>A (p.Gly1053Glu)
c.3206G>A (p.Gly1069Glu)
c.3266G>A (p.Gly1089Glu)
c.2816G>A (p.Gly939Glu)
c.1118G>A (p.Gly373Glu)
c.935G>A (p.Gly312Glu)
c.3167G>A (p.Gly1056Glu)
c.3119G>A (p.Gly1040Glu)
c.2888G>A (p.Gly963Glu)
c.2789G>A (p.Gly930Glu)
c.1970G>A (p.Gly657Glu)
n.3521G>A
13g.51942497C>ACA388028533ATP7Bc.*951G>T (n.*951G>T)
c.*2045G>T (n.*2045G>T)
c.2680G>T (p.Gly894Ter)
c.3301G>T (p.Gly1101Ter)
c.2968G>T (p.Gly990Ter)
c.3049G>T (p.Gly1017Ter)
c.3067G>T (p.Gly1023Ter)
n.3440G>T
n.3664G>T
c.2236G>T (p.Gly746Ter)
c.2011G>T (p.Gly671Ter)
c.3106G>T (p.Gly1036Ter)
c.1079G>T
c.*402G>T (n.*402G>T)
n.4045G>T
n.2646G>T
c.3157G>T (p.Gly1053Ter)
c.3205G>T (p.Gly1069Ter)
c.3265G>T (p.Gly1089Ter)
c.2815G>T (p.Gly939Ter)
c.1117G>T (p.Gly373Ter)
c.934G>T (p.Gly312Ter)
c.3166G>T (p.Gly1056Ter)
c.3118G>T (p.Gly1040Ter)
c.2887G>T (p.Gly963Ter)
c.2788G>T (p.Gly930Ter)
c.1969G>T (p.Gly657Ter)
n.3520G>T
13g.51942497C=CA2091561556ATP7Bc.*951G= (n.*951G=)
c.*2045G= (n.*2045G=)
c.2680G= (p.Gly894=)
c.3301G= (p.Gly1101=)
c.2968G= (p.Gly990=)
c.3049G= (p.Gly1017=)
c.3067G= (p.Gly1023=)
n.3440G=
n.3664G=
c.2236G= (p.Gly746=)
c.2011G= (p.Gly671=)
c.3106G= (p.Gly1036=)
c.1079G=
c.*402G= (n.*402G=)
n.4045G=
n.2646G=
c.3157G= (p.Gly1053=)
c.3205G= (p.Gly1069=)
c.3265G= (p.Gly1089=)
c.2815G= (p.Gly939=)
c.1117G= (p.Gly373=)
c.934G= (p.Gly312=)
c.3166G= (p.Gly1056=)
c.3118G= (p.Gly1040=)
c.2887G= (p.Gly963=)
c.2788G= (p.Gly930=)
c.1969G= (p.Gly657=)
n.3520G=
13g.51942497C>GCA388028531ATP7Bc.*951G>C (n.*951G>C)
c.*2045G>C (n.*2045G>C)
c.2680G>C (p.Gly894Arg)
c.3301G>C (p.Gly1101Arg)
c.2968G>C (p.Gly990Arg)
c.3049G>C (p.Gly1017Arg)
c.3067G>C (p.Gly1023Arg)
n.3440G>C
n.3664G>C
c.2236G>C (p.Gly746Arg)
c.2011G>C (p.Gly671Arg)
c.3106G>C (p.Gly1036Arg)
c.1079G>C
c.*402G>C (n.*402G>C)
n.4045G>C
n.2646G>C
c.3157G>C (p.Gly1053Arg)
c.3205G>C (p.Gly1069Arg)
c.3265G>C (p.Gly1089Arg)
c.2815G>C (p.Gly939Arg)
c.1117G>C (p.Gly373Arg)
c.934G>C (p.Gly312Arg)
c.3166G>C (p.Gly1056Arg)
c.3118G>C (p.Gly1040Arg)
c.2887G>C (p.Gly963Arg)
c.2788G>C (p.Gly930Arg)
c.1969G>C (p.Gly657Arg)
n.3520G>C
13g.51942497C>TCA273987ATP7Bc.*951G>A (n.*951G>A)
c.*2045G>A (n.*2045G>A)
c.2680G>A (p.Gly894Arg)
c.3301G>A (p.Gly1101Arg)
c.2968G>A (p.Gly990Arg)
c.3049G>A (p.Gly1017Arg)
c.3067G>A (p.Gly1023Arg)
n.3440G>A
n.3664G>A
c.2236G>A (p.Gly746Arg)
c.2011G>A (p.Gly671Arg)
c.3106G>A (p.Gly1036Arg)
c.1079G>A
c.*402G>A (n.*402G>A)
n.4045G>A
n.2646G>A
c.3157G>A (p.Gly1053Arg)
c.3205G>A (p.Gly1069Arg)
c.3265G>A (p.Gly1089Arg)
c.2815G>A (p.Gly939Arg)
c.1117G>A (p.Gly373Arg)
c.934G>A (p.Gly312Arg)
c.3166G>A (p.Gly1056Arg)
c.3118G>A (p.Gly1040Arg)
c.2887G>A (p.Gly963Arg)
c.2788G>A (p.Gly930Arg)
c.1969G>A (p.Gly657Arg)
n.3520G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51942497_51942498insTGGCACTGCCTGGCCA913190607ATP7Bc.*951_*952insCCAGGCAGTGCCAG (n.*951_*952insCCAGGCAGTGCCAG)
c.*2045_*2046insCCAGGCAGTGCCAG (n.*2045_*2046insCCAGGCAGTGCCAG)
c.2680_2681insCCAGGCAGTGCCAG (p.Gly894AlafsTer25)
c.3301_3302insCCAGGCAGTGCCAG (p.Gly1101AlafsTer25)
c.2968_2969insCCAGGCAGTGCCAG (p.Gly990AlafsTer25)
c.3049_3050insCCAGGCAGTGCCAG (p.Gly1017AlafsTer25)
c.3067_3068insCCAGGCAGTGCCAG (p.Gly1023AlafsTer25)
n.3440_3441insCCAGGCAGTGCCAG
n.3664_3665insCCAGGCAGTGCCAG
c.2236_2237insCCAGGCAGTGCCAG (p.Gly746AlafsTer25)
c.2011_2012insCCAGGCAGTGCCAG (p.Gly671AlafsTer25)
c.3106_3107insCCAGGCAGTGCCAG (p.Gly1036AlafsTer25)
c.1079_1080insCCAGGCAGTGCCAG
c.*402_*403insCCAGGCAGTGCCAG (n.*402_*403insCCAGGCAGTGCCAG)
n.4045_4046insCCAGGCAGTGCCAG
n.2646_2647insCCAGGCAGTGCCAG
c.3157_3158insCCAGGCAGTGCCAG (p.Gly1053AlafsTer25)
c.3205_3206insCCAGGCAGTGCCAG (p.Gly1069AlafsTer25)
c.3265_3266insCCAGGCAGTGCCAG (p.Gly1089AlafsTer25)
c.2815_2816insCCAGGCAGTGCCAG (p.Gly939AlafsTer25)
c.1117_1118insCCAGGCAGTGCCAG (p.Gly373AlafsTer25)
c.934_935insCCAGGCAGTGCCAG (p.Gly312AlafsTer25)
c.3166_3167insCCAGGCAGTGCCAG (p.Gly1056AlafsTer25)
c.3118_3119insCCAGGCAGTGCCAG (p.Gly1040AlafsTer25)
c.2887_2888insCCAGGCAGTGCCAG (p.Gly963AlafsTer25)
c.2788_2789insCCAGGCAGTGCCAG (p.Gly930AlafsTer25)
c.1969_1970insCCAGGCAGTGCCAG (p.Gly657AlafsTer25)
n.3520_3521insCCAGGCAGTGCCAG
 ClinVar dbSNP
13g.51942497_51942500delinsCACACA2091561553ATP7Bc.*948_*951delinsTGTG (n.*948_*951delinsTGTG)
c.*2042_*2045delinsTGTG (n.*2042_*2045delinsTGTG)
c.2677_2680delinsTGTG (p.Cys893=)
c.3298_3301delinsTGTG (p.Cys1100=)
c.2965_2968delinsTGTG (p.Cys989=)
c.3046_3049delinsTGTG (p.Cys1016=)
c.3064_3067delinsTGTG (p.Cys1022=)
n.3437_3440delinsTGTG
n.3661_3664delinsTGTG
c.2233_2236delinsTGTG (p.Cys745=)
c.2008_2011delinsTGTG (p.Cys670=)
c.3103_3106delinsTGTG (p.Cys1035=)
c.1076_1079delinsTGTG
c.*399_*402delinsTGTG (n.*399_*402delinsTGTG)
n.4042_4045delinsTGTG
n.2643_2646delinsTGTG
c.3154_3157delinsTGTG (p.Cys1052=)
c.3202_3205delinsTGTG (p.Cys1068=)
c.3262_3265delinsTGTG (p.Cys1088=)
c.2812_2815delinsTGTG (p.Cys938=)
c.1114_1117delinsTGTG (p.Cys372=)
c.931_934delinsTGTG (p.Cys311=)
c.3163_3166delinsTGTG (p.Cys1055=)
c.3115_3118delinsTGTG (p.Cys1039=)
c.2884_2887delinsTGTG (p.Cys962=)
c.2785_2788delinsTGTG (p.Cys929=)
c.1966_1969delinsTGTG (p.Cys656=)
n.3517_3520delinsTGTG
13g.51942498A>CCA388028537ATP7Bc.*950T>G (n.*950T>G)
c.*2044T>G (n.*2044T>G)
c.2679T>G (p.Cys893Trp)
c.3300T>G (p.Cys1100Trp)
c.2967T>G (p.Cys989Trp)
c.3048T>G (p.Cys1016Trp)
c.3066T>G (p.Cys1022Trp)
n.3439T>G
n.3663T>G
c.2235T>G (p.Cys745Trp)
c.2010T>G (p.Cys670Trp)
c.3105T>G (p.Cys1035Trp)
c.1078T>G
c.*401T>G (n.*401T>G)
n.4044T>G
n.2645T>G
c.3156T>G (p.Cys1052Trp)
c.3204T>G (p.Cys1068Trp)
c.3264T>G (p.Cys1088Trp)
c.2814T>G (p.Cys938Trp)
c.1116T>G (p.Cys372Trp)
c.933T>G (p.Cys311Trp)
c.3165T>G (p.Cys1055Trp)
c.3117T>G (p.Cys1039Trp)
c.2886T>G (p.Cys962Trp)
c.2787T>G (p.Cys929Trp)
c.1968T>G (p.Cys656Trp)
n.3519T>G
13g.51942498A>GCA483894460ATP7Bc.*950T>C (n.*950T>C)
c.*2044T>C (n.*2044T>C)
c.2679T>C (p.Cys893=)
c.3300T>C (p.Cys1100=)
c.2967T>C (p.Cys989=)
c.3048T>C (p.Cys1016=)
c.3066T>C (p.Cys1022=)
n.3439T>C
n.3663T>C
c.2235T>C (p.Cys745=)
c.2010T>C (p.Cys670=)
c.3105T>C (p.Cys1035=)
c.1078T>C
c.*401T>C (n.*401T>C)
n.4044T>C
n.2645T>C
c.3156T>C (p.Cys1052=)
c.3204T>C (p.Cys1068=)
c.3264T>C (p.Cys1088=)
c.2814T>C (p.Cys938=)
c.1116T>C (p.Cys372=)
c.933T>C (p.Cys311=)
c.3165T>C (p.Cys1055=)
c.3117T>C (p.Cys1039=)
c.2886T>C (p.Cys962=)
c.2787T>C (p.Cys929=)
c.1968T>C (p.Cys656=)
n.3519T>C
13g.51942498A>TCA388028542ATP7Bc.*950T>A (n.*950T>A)
c.*2044T>A (n.*2044T>A)
c.2679T>A (p.Cys893Ter)
c.3300T>A (p.Cys1100Ter)
c.2967T>A (p.Cys989Ter)
c.3048T>A (p.Cys1016Ter)
c.3066T>A (p.Cys1022Ter)
n.3439T>A
n.3663T>A
c.2235T>A (p.Cys745Ter)
c.2010T>A (p.Cys670Ter)
c.3105T>A (p.Cys1035Ter)
c.1078T>A
c.*401T>A (n.*401T>A)
n.4044T>A
n.2645T>A
c.3156T>A (p.Cys1052Ter)
c.3204T>A (p.Cys1068Ter)
c.3264T>A (p.Cys1088Ter)
c.2814T>A (p.Cys938Ter)
c.1116T>A (p.Cys372Ter)
c.933T>A (p.Cys311Ter)
c.3165T>A (p.Cys1055Ter)
c.3117T>A (p.Cys1039Ter)
c.2886T>A (p.Cys962Ter)
c.2787T>A (p.Cys929Ter)
c.1968T>A (p.Cys656Ter)
n.3519T>A
13g.51942498_51942500delinsTGGCACTGCCTGGCACTCA913190608ATP7Bc.*948_*950delinsAGTGCCAGGCAGTGCCA (n.*948_*950delinsAGTGCCAGGCAGTGCCA)
c.*2042_*2044delinsAGTGCCAGGCAGTGCCA (n.*2042_*2044delinsAGTGCCAGGCAGTGCCA)
c.2677_2679delinsAGTGCCAGGCAGTGCCA (p.Cys893SerfsTer26)
c.3298_3300delinsAGTGCCAGGCAGTGCCA (p.Cys1100SerfsTer26)
c.2965_2967delinsAGTGCCAGGCAGTGCCA (p.Cys989SerfsTer26)
c.3046_3048delinsAGTGCCAGGCAGTGCCA (p.Cys1016SerfsTer26)
c.3064_3066delinsAGTGCCAGGCAGTGCCA (p.Cys1022SerfsTer26)
n.3437_3439delinsAGTGCCAGGCAGTGCCA
n.3661_3663delinsAGTGCCAGGCAGTGCCA
c.2233_2235delinsAGTGCCAGGCAGTGCCA (p.Cys745SerfsTer26)
c.2008_2010delinsAGTGCCAGGCAGTGCCA (p.Cys670SerfsTer26)
c.3103_3105delinsAGTGCCAGGCAGTGCCA (p.Cys1035SerfsTer26)
c.1076_1078delinsAGTGCCAGGCAGTGCCA
c.*399_*401delinsAGTGCCAGGCAGTGCCA (n.*399_*401delinsAGTGCCAGGCAGTGCCA)
n.4042_4044delinsAGTGCCAGGCAGTGCCA
n.2643_2645delinsAGTGCCAGGCAGTGCCA
c.3154_3156delinsAGTGCCAGGCAGTGCCA (p.Cys1052SerfsTer26)
c.3202_3204delinsAGTGCCAGGCAGTGCCA (p.Cys1068SerfsTer26)
c.3262_3264delinsAGTGCCAGGCAGTGCCA (p.Cys1088SerfsTer26)
c.2812_2814delinsAGTGCCAGGCAGTGCCA (p.Cys938SerfsTer26)
c.1114_1116delinsAGTGCCAGGCAGTGCCA (p.Cys372SerfsTer26)
c.931_933delinsAGTGCCAGGCAGTGCCA (p.Cys311SerfsTer26)
c.3163_3165delinsAGTGCCAGGCAGTGCCA (p.Cys1055SerfsTer26)
c.3115_3117delinsAGTGCCAGGCAGTGCCA (p.Cys1039SerfsTer26)
c.2884_2886delinsAGTGCCAGGCAGTGCCA (p.Cys962SerfsTer26)
c.2785_2787delinsAGTGCCAGGCAGTGCCA (p.Cys929SerfsTer26)
c.1966_1968delinsAGTGCCAGGCAGTGCCA (p.Cys656SerfsTer26)
n.3517_3519delinsAGTGCCAGGCAGTGCCA
 ClinVar dbSNP
13g.51942499C>ACA388028546ATP7Bc.*949G>T (n.*949G>T)
c.*2043G>T (n.*2043G>T)
c.2678G>T (p.Cys893Phe)
c.3299G>T (p.Cys1100Phe)
c.2966G>T (p.Cys989Phe)
c.3047G>T (p.Cys1016Phe)
c.3065G>T (p.Cys1022Phe)
n.3438G>T
n.3662G>T
c.2234G>T (p.Cys745Phe)
c.2009G>T (p.Cys670Phe)
c.3104G>T (p.Cys1035Phe)
c.1077G>T
c.*400G>T (n.*400G>T)
n.4043G>T
n.2644G>T
c.3155G>T (p.Cys1052Phe)
c.3203G>T (p.Cys1068Phe)
c.3263G>T (p.Cys1088Phe)
c.2813G>T (p.Cys938Phe)
c.1115G>T (p.Cys372Phe)
c.932G>T (p.Cys311Phe)
c.3164G>T (p.Cys1055Phe)
c.3116G>T (p.Cys1039Phe)
c.2885G>T (p.Cys962Phe)
c.2786G>T (p.Cys929Phe)
c.1967G>T (p.Cys656Phe)
n.3518G>T
13g.51942499C=CA2091561573ATP7Bc.*949G= (n.*949G=)
c.*2043G= (n.*2043G=)
c.2678G= (p.Cys893=)
c.3299G= (p.Cys1100=)
c.2966G= (p.Cys989=)
c.3047G= (p.Cys1016=)
c.3065G= (p.Cys1022=)
n.3438G=
n.3662G=
c.2234G= (p.Cys745=)
c.2009G= (p.Cys670=)
c.3104G= (p.Cys1035=)
c.1077G=
c.*400G= (n.*400G=)
n.4043G=
n.2644G=
c.3155G= (p.Cys1052=)
c.3203G= (p.Cys1068=)
c.3263G= (p.Cys1088=)
c.2813G= (p.Cys938=)
c.1115G= (p.Cys372=)
c.932G= (p.Cys311=)
c.3164G= (p.Cys1055=)
c.3116G= (p.Cys1039=)
c.2885G= (p.Cys962=)
c.2786G= (p.Cys929=)
c.1967G= (p.Cys656=)
n.3518G=
13g.51942499C>GCA388028549ATP7Bc.*949G>C (n.*949G>C)
c.*2043G>C (n.*2043G>C)
c.2678G>C (p.Cys893Ser)
c.3299G>C (p.Cys1100Ser)
c.2966G>C (p.Cys989Ser)
c.3047G>C (p.Cys1016Ser)
c.3065G>C (p.Cys1022Ser)
n.3438G>C
n.3662G>C
c.2234G>C (p.Cys745Ser)
c.2009G>C (p.Cys670Ser)
c.3104G>C (p.Cys1035Ser)
c.1077G>C
c.*400G>C (n.*400G>C)
n.4043G>C
n.2644G>C
c.3155G>C (p.Cys1052Ser)
c.3203G>C (p.Cys1068Ser)
c.3263G>C (p.Cys1088Ser)
c.2813G>C (p.Cys938Ser)
c.1115G>C (p.Cys372Ser)
c.932G>C (p.Cys311Ser)
c.3164G>C (p.Cys1055Ser)
c.3116G>C (p.Cys1039Ser)
c.2885G>C (p.Cys962Ser)
c.2786G>C (p.Cys929Ser)
c.1967G>C (p.Cys656Ser)
n.3518G>C
13g.51942499C>TCA388028559ATP7Bc.*949G>A (n.*949G>A)
c.*2043G>A (n.*2043G>A)
c.2678G>A (p.Cys893Tyr)
c.3299G>A (p.Cys1100Tyr)
c.2966G>A (p.Cys989Tyr)
c.3047G>A (p.Cys1016Tyr)
c.3065G>A (p.Cys1022Tyr)
n.3438G>A
n.3662G>A
c.2234G>A (p.Cys745Tyr)
c.2009G>A (p.Cys670Tyr)
c.3104G>A (p.Cys1035Tyr)
c.1077G>A
c.*400G>A (n.*400G>A)
n.4043G>A
n.2644G>A
c.3155G>A (p.Cys1052Tyr)
c.3203G>A (p.Cys1068Tyr)
c.3263G>A (p.Cys1088Tyr)
c.2813G>A (p.Cys938Tyr)
c.1115G>A (p.Cys372Tyr)
c.932G>A (p.Cys311Tyr)
c.3164G>A (p.Cys1055Tyr)
c.3116G>A (p.Cys1039Tyr)
c.2885G>A (p.Cys962Tyr)
c.2786G>A (p.Cys929Tyr)
c.1967G>A (p.Cys656Tyr)
n.3518G>A
 dbSNP gnomAD v2 gnomAD v4
13g.51942500A=CA2091561577ATP7Bc.*948T= (n.*948T=)
c.*2042T= (n.*2042T=)
c.2677T= (p.Cys893=)
c.3298T= (p.Cys1100=)
c.2965T= (p.Cys989=)
c.3046T= (p.Cys1016=)
c.3064T= (p.Cys1022=)
n.3437T=
n.3661T=
c.2233T= (p.Cys745=)
c.2008T= (p.Cys670=)
c.3103T= (p.Cys1035=)
c.1076T=
c.*399T= (n.*399T=)
n.4042T=
n.2643T=
c.3154T= (p.Cys1052=)
c.3202T= (p.Cys1068=)
c.3262T= (p.Cys1088=)
c.2812T= (p.Cys938=)
c.1114T= (p.Cys372=)
c.931T= (p.Cys311=)
c.3163T= (p.Cys1055=)
c.3115T= (p.Cys1039=)
c.2884T= (p.Cys962=)
c.2785T= (p.Cys929=)
c.1966T= (p.Cys656=)
n.3517T=
13g.51942500A>CCA388028569ATP7Bc.*948T>G (n.*948T>G)
c.*2042T>G (n.*2042T>G)
c.2677T>G (p.Cys893Gly)
c.3298T>G (p.Cys1100Gly)
c.2965T>G (p.Cys989Gly)
c.3046T>G (p.Cys1016Gly)
c.3064T>G (p.Cys1022Gly)
n.3437T>G
n.3661T>G
c.2233T>G (p.Cys745Gly)
c.2008T>G (p.Cys670Gly)
c.3103T>G (p.Cys1035Gly)
c.1076T>G
c.*399T>G (n.*399T>G)
n.4042T>G
n.2643T>G
c.3154T>G (p.Cys1052Gly)
c.3202T>G (p.Cys1068Gly)
c.3262T>G (p.Cys1088Gly)
c.2812T>G (p.Cys938Gly)
c.1114T>G (p.Cys372Gly)
c.931T>G (p.Cys311Gly)
c.3163T>G (p.Cys1055Gly)
c.3115T>G (p.Cys1039Gly)
c.2884T>G (p.Cys962Gly)
c.2785T>G (p.Cys929Gly)
c.1966T>G (p.Cys656Gly)
n.3517T>G
13g.51942500A>GCA388028577ATP7Bc.*948T>C (n.*948T>C)
c.*2042T>C (n.*2042T>C)
c.2677T>C (p.Cys893Arg)
c.3298T>C (p.Cys1100Arg)
c.2965T>C (p.Cys989Arg)
c.3046T>C (p.Cys1016Arg)
c.3064T>C (p.Cys1022Arg)
n.3437T>C
n.3661T>C
c.2233T>C (p.Cys745Arg)
c.2008T>C (p.Cys670Arg)
c.3103T>C (p.Cys1035Arg)
c.1076T>C
c.*399T>C (n.*399T>C)
n.4042T>C
n.2643T>C
c.3154T>C (p.Cys1052Arg)
c.3202T>C (p.Cys1068Arg)
c.3262T>C (p.Cys1088Arg)
c.2812T>C (p.Cys938Arg)
c.1114T>C (p.Cys372Arg)
c.931T>C (p.Cys311Arg)
c.3163T>C (p.Cys1055Arg)
c.3115T>C (p.Cys1039Arg)
c.2884T>C (p.Cys962Arg)
c.2785T>C (p.Cys929Arg)
c.1966T>C (p.Cys656Arg)
n.3517T>C
 ClinVar
13g.51942500A>TCA388028574ATP7Bc.*948T>A (n.*948T>A)
c.*2042T>A (n.*2042T>A)
c.2677T>A (p.Cys893Ser)
c.3298T>A (p.Cys1100Ser)
c.2965T>A (p.Cys989Ser)
c.3046T>A (p.Cys1016Ser)
c.3064T>A (p.Cys1022Ser)
n.3437T>A
n.3661T>A
c.2233T>A (p.Cys745Ser)
c.2008T>A (p.Cys670Ser)
c.3103T>A (p.Cys1035Ser)
c.1076T>A
c.*399T>A (n.*399T>A)
n.4042T>A
n.2643T>A
c.3154T>A (p.Cys1052Ser)
c.3202T>A (p.Cys1068Ser)
c.3262T>A (p.Cys1088Ser)
c.2812T>A (p.Cys938Ser)
c.1114T>A (p.Cys372Ser)
c.931T>A (p.Cys311Ser)
c.3163T>A (p.Cys1055Ser)
c.3115T>A (p.Cys1039Ser)
c.2884T>A (p.Cys962Ser)
c.2785T>A (p.Cys929Ser)
c.1966T>A (p.Cys656Ser)
n.3517T>A
 ClinVar dbSNP
13g.51942501G>ACA483894465ATP7Bc.*947C>T (n.*947C>T)
c.*2041C>T (n.*2041C>T)
c.2676C>T (p.Gly892=)
c.3297C>T (p.Gly1099=)
c.2964C>T (p.Gly988=)
c.3045C>T (p.Gly1015=)
c.3063C>T (p.Gly1021=)
n.3436C>T
n.3660C>T
c.2232C>T (p.Gly744=)
c.2007C>T (p.Gly669=)
c.3102C>T (p.Gly1034=)
c.1075C>T
c.*398C>T (n.*398C>T)
n.4041C>T
n.2642C>T
c.3153C>T (p.Gly1051=)
c.3201C>T (p.Gly1067=)
c.3261C>T (p.Gly1087=)
c.2811C>T (p.Gly937=)
c.1113C>T (p.Gly371=)
c.930C>T (p.Gly310=)
c.3162C>T (p.Gly1054=)
c.3114C>T (p.Gly1038=)
c.2883C>T (p.Gly961=)
c.2784C>T (p.Gly928=)
c.1965C>T (p.Gly655=)
n.3516C>T
 COSMIC
13g.51942501G>CCA483894466ATP7Bc.*947C>G (n.*947C>G)
c.*2041C>G (n.*2041C>G)
c.2676C>G (p.Gly892=)
c.3297C>G (p.Gly1099=)
c.2964C>G (p.Gly988=)
c.3045C>G (p.Gly1015=)
c.3063C>G (p.Gly1021=)
n.3436C>G
n.3660C>G
c.2232C>G (p.Gly744=)
c.2007C>G (p.Gly669=)
c.3102C>G (p.Gly1034=)
c.1075C>G
c.*398C>G (n.*398C>G)
n.4041C>G
n.2642C>G
c.3153C>G (p.Gly1051=)
c.3201C>G (p.Gly1067=)
c.3261C>G (p.Gly1087=)
c.2811C>G (p.Gly937=)
c.1113C>G (p.Gly371=)
c.930C>G (p.Gly310=)
c.3162C>G (p.Gly1054=)
c.3114C>G (p.Gly1038=)
c.2883C>G (p.Gly961=)
c.2784C>G (p.Gly928=)
c.1965C>G (p.Gly655=)
n.3516C>G
13g.51942501G>TCA483894467ATP7Bc.*947C>A (n.*947C>A)
c.*2041C>A (n.*2041C>A)
c.2676C>A (p.Gly892=)
c.3297C>A (p.Gly1099=)
c.2964C>A (p.Gly988=)
c.3045C>A (p.Gly1015=)
c.3063C>A (p.Gly1021=)
n.3436C>A
n.3660C>A
c.2232C>A (p.Gly744=)
c.2007C>A (p.Gly669=)
c.3102C>A (p.Gly1034=)
c.1075C>A
c.*398C>A (n.*398C>A)
n.4041C>A
n.2642C>A
c.3153C>A (p.Gly1051=)
c.3201C>A (p.Gly1067=)
c.3261C>A (p.Gly1087=)
c.2811C>A (p.Gly937=)
c.1113C>A (p.Gly371=)
c.930C>A (p.Gly310=)
c.3162C>A (p.Gly1054=)
c.3114C>A (p.Gly1038=)
c.2883C>A (p.Gly961=)
c.2784C>A (p.Gly928=)
c.1965C>A (p.Gly655=)
n.3516C>A
13g.51942502C>ACA388028588ATP7Bc.*946G>T (n.*946G>T)
c.*2040G>T (n.*2040G>T)
c.2675G>T (p.Gly892Val)
c.3296G>T (p.Gly1099Val)
c.2963G>T (p.Gly988Val)
c.3044G>T (p.Gly1015Val)
c.3062G>T (p.Gly1021Val)
n.3435G>T
n.3659G>T
c.2231G>T (p.Gly744Val)
c.2006G>T (p.Gly669Val)
c.3101G>T (p.Gly1034Val)
c.1074G>T
c.*397G>T (n.*397G>T)
n.4040G>T
n.2641G>T
c.3152G>T (p.Gly1051Val)
c.3200G>T (p.Gly1067Val)
c.3260G>T (p.Gly1087Val)
c.2810G>T (p.Gly937Val)
c.1112G>T (p.Gly371Val)
c.929G>T (p.Gly310Val)
c.3161G>T (p.Gly1054Val)
c.3113G>T (p.Gly1038Val)
c.2882G>T (p.Gly961Val)
c.2783G>T (p.Gly928Val)
c.1964G>T (p.Gly655Val)
n.3515G>T
13g.51942502C>GCA388028593ATP7Bc.*946G>C (n.*946G>C)
c.*2040G>C (n.*2040G>C)
c.2675G>C (p.Gly892Ala)
c.3296G>C (p.Gly1099Ala)
c.2963G>C (p.Gly988Ala)
c.3044G>C (p.Gly1015Ala)
c.3062G>C (p.Gly1021Ala)
n.3435G>C
n.3659G>C
c.2231G>C (p.Gly744Ala)
c.2006G>C (p.Gly669Ala)
c.3101G>C (p.Gly1034Ala)
c.1074G>C
c.*397G>C (n.*397G>C)
n.4040G>C
n.2641G>C
c.3152G>C (p.Gly1051Ala)
c.3200G>C (p.Gly1067Ala)
c.3260G>C (p.Gly1087Ala)
c.2810G>C (p.Gly937Ala)
c.1112G>C (p.Gly371Ala)
c.929G>C (p.Gly310Ala)
c.3161G>C (p.Gly1054Ala)
c.3113G>C (p.Gly1038Ala)
c.2882G>C (p.Gly961Ala)
c.2783G>C (p.Gly928Ala)
c.1964G>C (p.Gly655Ala)
n.3515G>C
13g.51942502C>TCA388028596ATP7Bc.*946G>A (n.*946G>A)
c.*2040G>A (n.*2040G>A)
c.2675G>A (p.Gly892Asp)
c.3296G>A (p.Gly1099Asp)
c.2963G>A (p.Gly988Asp)
c.3044G>A (p.Gly1015Asp)
c.3062G>A (p.Gly1021Asp)
n.3435G>A
n.3659G>A
c.2231G>A (p.Gly744Asp)
c.2006G>A (p.Gly669Asp)
c.3101G>A (p.Gly1034Asp)
c.1074G>A
c.*397G>A (n.*397G>A)
n.4040G>A
n.2641G>A
c.3152G>A (p.Gly1051Asp)
c.3200G>A (p.Gly1067Asp)
c.3260G>A (p.Gly1087Asp)
c.2810G>A (p.Gly937Asp)
c.1112G>A (p.Gly371Asp)
c.929G>A (p.Gly310Asp)
c.3161G>A (p.Gly1054Asp)
c.3113G>A (p.Gly1038Asp)
c.2882G>A (p.Gly961Asp)
c.2783G>A (p.Gly928Asp)
c.1964G>A (p.Gly655Asp)
n.3515G>A
 ClinVar
13g.51942502_51942503dupCA2739277653ATP7Bc.*945_*946dup (n.*945_*946dup)
c.*2039_*2040dup (n.*2039_*2040dup)
c.2674_2675dup (p.Cys893AlafsTer22)
c.3295_3296dup (p.Cys1100AlafsTer22)
c.2962_2963dup (p.Cys989AlafsTer22)
c.3043_3044dup (p.Cys1016AlafsTer22)
c.3061_3062dup (p.Cys1022AlafsTer22)
n.3434_3435dup
n.3658_3659dup
c.2230_2231dup (p.Cys745AlafsTer22)
c.2005_2006dup (p.Cys670AlafsTer22)
c.3100_3101dup (p.Cys1035AlafsTer22)
c.1073_1074dup
c.*396_*397dup (n.*396_*397dup)
n.4039_4040dup
n.2640_2641dup
c.3151_3152dup (p.Cys1052AlafsTer22)
c.3199_3200dup (p.Cys1068AlafsTer22)
c.3259_3260dup (p.Cys1088AlafsTer22)
c.2809_2810dup (p.Cys938AlafsTer22)
c.1111_1112dup (p.Cys372AlafsTer22)
c.928_929dup (p.Cys311AlafsTer22)
c.3160_3161dup (p.Cys1055AlafsTer22)
c.3112_3113dup (p.Cys1039AlafsTer22)
c.2881_2882dup (p.Cys962AlafsTer22)
c.2782_2783dup (p.Cys929AlafsTer22)
c.1963_1964dup (p.Cys656AlafsTer22)
n.3514_3515dup
 ClinVar
13g.51942503C>ACA388028597ATP7Bc.*945G>T (n.*945G>T)
c.*2039G>T (n.*2039G>T)
c.2674G>T (p.Gly892Cys)
c.3295G>T (p.Gly1099Cys)
c.2962G>T (p.Gly988Cys)
c.3043G>T (p.Gly1015Cys)
c.3061G>T (p.Gly1021Cys)
n.3434G>T
n.3658G>T
c.2230G>T (p.Gly744Cys)
c.2005G>T (p.Gly669Cys)
c.3100G>T (p.Gly1034Cys)
c.1073G>T
c.*396G>T (n.*396G>T)
n.4039G>T
n.2640G>T
c.3151G>T (p.Gly1051Cys)
c.3199G>T (p.Gly1067Cys)
c.3259G>T (p.Gly1087Cys)
c.2809G>T (p.Gly937Cys)
c.1111G>T (p.Gly371Cys)
c.928G>T (p.Gly310Cys)
c.3160G>T (p.Gly1054Cys)
c.3112G>T (p.Gly1038Cys)
c.2881G>T (p.Gly961Cys)
c.2782G>T (p.Gly928Cys)
c.1963G>T (p.Gly655Cys)
n.3514G>T
 gnomAD v4
13g.51942503C=CA2091561581ATP7Bc.*945G= (n.*945G=)
c.*2039G= (n.*2039G=)
c.2674G= (p.Gly892=)
c.3295G= (p.Gly1099=)
c.2962G= (p.Gly988=)
c.3043G= (p.Gly1015=)
c.3061G= (p.Gly1021=)
n.3434G=
n.3658G=
c.2230G= (p.Gly744=)
c.2005G= (p.Gly669=)
c.3100G= (p.Gly1034=)
c.1073G=
c.*396G= (n.*396G=)
n.4039G=
n.2640G=
c.3151G= (p.Gly1051=)
c.3199G= (p.Gly1067=)
c.3259G= (p.Gly1087=)
c.2809G= (p.Gly937=)
c.1111G= (p.Gly371=)
c.928G= (p.Gly310=)
c.3160G= (p.Gly1054=)
c.3112G= (p.Gly1038=)
c.2881G= (p.Gly961=)
c.2782G= (p.Gly928=)
c.1963G= (p.Gly655=)
n.3514G=
13g.51942503C>GCA388028598ATP7Bc.*945G>C (n.*945G>C)
c.*2039G>C (n.*2039G>C)
c.2674G>C (p.Gly892Arg)
c.3295G>C (p.Gly1099Arg)
c.2962G>C (p.Gly988Arg)
c.3043G>C (p.Gly1015Arg)
c.3061G>C (p.Gly1021Arg)
n.3434G>C
n.3658G>C
c.2230G>C (p.Gly744Arg)
c.2005G>C (p.Gly669Arg)
c.3100G>C (p.Gly1034Arg)
c.1073G>C
c.*396G>C (n.*396G>C)
n.4039G>C
n.2640G>C
c.3151G>C (p.Gly1051Arg)
c.3199G>C (p.Gly1067Arg)
c.3259G>C (p.Gly1087Arg)
c.2809G>C (p.Gly937Arg)
c.1111G>C (p.Gly371Arg)
c.928G>C (p.Gly310Arg)
c.3160G>C (p.Gly1054Arg)
c.3112G>C (p.Gly1038Arg)
c.2881G>C (p.Gly961Arg)
c.2782G>C (p.Gly928Arg)
c.1963G>C (p.Gly655Arg)
n.3514G>C
13g.51942503C>TCA6988744ATP7Bc.*945G>A (n.*945G>A)
c.*2039G>A (n.*2039G>A)
c.2674G>A (p.Gly892Ser)
c.3295G>A (p.Gly1099Ser)
c.2962G>A (p.Gly988Ser)
c.3043G>A (p.Gly1015Ser)
c.3061G>A (p.Gly1021Ser)
n.3434G>A
n.3658G>A
c.2230G>A (p.Gly744Ser)
c.2005G>A (p.Gly669Ser)
c.3100G>A (p.Gly1034Ser)
c.1073G>A
c.*396G>A (n.*396G>A)
n.4039G>A
n.2640G>A
c.3151G>A (p.Gly1051Ser)
c.3199G>A (p.Gly1067Ser)
c.3259G>A (p.Gly1087Ser)
c.2809G>A (p.Gly937Ser)
c.1111G>A (p.Gly371Ser)
c.928G>A (p.Gly310Ser)
c.3160G>A (p.Gly1054Ser)
c.3112G>A (p.Gly1038Ser)
c.2881G>A (p.Gly961Ser)
c.2782G>A (p.Gly928Ser)
c.1963G>A (p.Gly655Ser)
n.3514G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51942504T>ACA483894471ATP7Bc.*944A>T (n.*944A>T)
c.*2038A>T (n.*2038A>T)
c.2673A>T (p.Pro891=)
c.3294A>T (p.Pro1098=)
c.2961A>T (p.Pro987=)
c.3042A>T (p.Pro1014=)
c.3060A>T (p.Pro1020=)
n.3433A>T
n.3657A>T
c.2229A>T (p.Pro743=)
c.2004A>T (p.Pro668=)
c.3099A>T (p.Pro1033=)
c.1072A>T
c.*395A>T (n.*395A>T)
n.4038A>T
n.2639A>T
c.3150A>T (p.Pro1050=)
c.3198A>T (p.Pro1066=)
c.3258A>T (p.Pro1086=)
c.2808A>T (p.Pro936=)
c.1110A>T (p.Pro370=)
c.927A>T (p.Pro309=)
c.3159A>T (p.Pro1053=)
c.3111A>T (p.Pro1037=)
c.2880A>T (p.Pro960=)
c.2781A>T (p.Pro927=)
c.1962A>T (p.Pro654=)
n.3513A>T
13g.51942504T>CCA483894472ATP7Bc.*944A>G (n.*944A>G)
c.*2038A>G (n.*2038A>G)
c.2673A>G (p.Pro891=)
c.3294A>G (p.Pro1098=)
c.2961A>G (p.Pro987=)
c.3042A>G (p.Pro1014=)
c.3060A>G (p.Pro1020=)
n.3433A>G
n.3657A>G
c.2229A>G (p.Pro743=)
c.2004A>G (p.Pro668=)
c.3099A>G (p.Pro1033=)
c.1072A>G
c.*395A>G (n.*395A>G)
n.4038A>G
n.2639A>G
c.3150A>G (p.Pro1050=)
c.3198A>G (p.Pro1066=)
c.3258A>G (p.Pro1086=)
c.2808A>G (p.Pro936=)
c.1110A>G (p.Pro370=)
c.927A>G (p.Pro309=)
c.3159A>G (p.Pro1053=)
c.3111A>G (p.Pro1037=)
c.2880A>G (p.Pro960=)
c.2781A>G (p.Pro927=)
c.1962A>G (p.Pro654=)
n.3513A>G
13g.51942504T>GCA483894474ATP7Bc.*944A>C (n.*944A>C)
c.*2038A>C (n.*2038A>C)
c.2673A>C (p.Pro891=)
c.3294A>C (p.Pro1098=)
c.2961A>C (p.Pro987=)
c.3042A>C (p.Pro1014=)
c.3060A>C (p.Pro1020=)
n.3433A>C
n.3657A>C
c.2229A>C (p.Pro743=)
c.2004A>C (p.Pro668=)
c.3099A>C (p.Pro1033=)
c.1072A>C
c.*395A>C (n.*395A>C)
n.4038A>C
n.2639A>C
c.3150A>C (p.Pro1050=)
c.3198A>C (p.Pro1066=)
c.3258A>C (p.Pro1086=)
c.2808A>C (p.Pro936=)
c.1110A>C (p.Pro370=)
c.927A>C (p.Pro309=)
c.3159A>C (p.Pro1053=)
c.3111A>C (p.Pro1037=)
c.2880A>C (p.Pro960=)
c.2781A>C (p.Pro927=)
c.1962A>C (p.Pro654=)
n.3513A>C
 ClinVar dbSNP gnomAD v4
13g.51942505G>ACA388028600ATP7Bc.*943C>T (n.*943C>T)
c.*2037C>T (n.*2037C>T)
c.2672C>T (p.Pro891Leu)
c.3293C>T (p.Pro1098Leu)
c.2960C>T (p.Pro987Leu)
c.3041C>T (p.Pro1014Leu)
c.3059C>T (p.Pro1020Leu)
n.3432C>T
n.3656C>T
c.2228C>T (p.Pro743Leu)
c.2003C>T (p.Pro668Leu)
c.3098C>T (p.Pro1033Leu)
c.1071C>T
c.*394C>T (n.*394C>T)
n.4037C>T
n.2638C>T
c.3149C>T (p.Pro1050Leu)
c.3197C>T (p.Pro1066Leu)
c.3257C>T (p.Pro1086Leu)
c.2807C>T (p.Pro936Leu)
c.1109C>T (p.Pro370Leu)
c.926C>T (p.Pro309Leu)
c.3158C>T (p.Pro1053Leu)
c.3110C>T (p.Pro1037Leu)
c.2879C>T (p.Pro960Leu)
c.2780C>T (p.Pro927Leu)
c.1961C>T (p.Pro654Leu)
n.3512C>T
13g.51942505G>CCA388028602ATP7Bc.*943C>G (n.*943C>G)
c.*2037C>G (n.*2037C>G)
c.2672C>G (p.Pro891Arg)
c.3293C>G (p.Pro1098Arg)
c.2960C>G (p.Pro987Arg)
c.3041C>G (p.Pro1014Arg)
c.3059C>G (p.Pro1020Arg)
n.3432C>G
n.3656C>G
c.2228C>G (p.Pro743Arg)
c.2003C>G (p.Pro668Arg)
c.3098C>G (p.Pro1033Arg)
c.1071C>G
c.*394C>G (n.*394C>G)
n.4037C>G
n.2638C>G
c.3149C>G (p.Pro1050Arg)
c.3197C>G (p.Pro1066Arg)
c.3257C>G (p.Pro1086Arg)
c.2807C>G (p.Pro936Arg)
c.1109C>G (p.Pro370Arg)
c.926C>G (p.Pro309Arg)
c.3158C>G (p.Pro1053Arg)
c.3110C>G (p.Pro1037Arg)
c.2879C>G (p.Pro960Arg)
c.2780C>G (p.Pro927Arg)
c.1961C>G (p.Pro654Arg)
n.3512C>G
13g.51942505G>TCA388028604ATP7Bc.*943C>A (n.*943C>A)
c.*2037C>A (n.*2037C>A)
c.2672C>A (p.Pro891Gln)
c.3293C>A (p.Pro1098Gln)
c.2960C>A (p.Pro987Gln)
c.3041C>A (p.Pro1014Gln)
c.3059C>A (p.Pro1020Gln)
n.3432C>A
n.3656C>A
c.2228C>A (p.Pro743Gln)
c.2003C>A (p.Pro668Gln)
c.3098C>A (p.Pro1033Gln)
c.1071C>A
c.*394C>A (n.*394C>A)
n.4037C>A
n.2638C>A
c.3149C>A (p.Pro1050Gln)
c.3197C>A (p.Pro1066Gln)
c.3257C>A (p.Pro1086Gln)
c.2807C>A (p.Pro936Gln)
c.1109C>A (p.Pro370Gln)
c.926C>A (p.Pro309Gln)
c.3158C>A (p.Pro1053Gln)
c.3110C>A (p.Pro1037Gln)
c.2879C>A (p.Pro960Gln)
c.2780C>A (p.Pro927Gln)
c.1961C>A (p.Pro654Gln)
n.3512C>A
13g.51942506G>ACA388028608ATP7Bc.*942C>T (n.*942C>T)
c.*2036C>T (n.*2036C>T)
c.2671C>T (p.Pro891Ser)
c.3292C>T (p.Pro1098Ser)
c.2959C>T (p.Pro987Ser)
c.3040C>T (p.Pro1014Ser)
c.3058C>T (p.Pro1020Ser)
n.3431C>T
n.3655C>T
c.2227C>T (p.Pro743Ser)
c.2002C>T (p.Pro668Ser)
c.3097C>T (p.Pro1033Ser)
c.1070C>T
c.*393C>T (n.*393C>T)
n.4036C>T
n.2637C>T
c.3148C>T (p.Pro1050Ser)
c.3196C>T (p.Pro1066Ser)
c.3256C>T (p.Pro1086Ser)
c.2806C>T (p.Pro936Ser)
c.1108C>T (p.Pro370Ser)
c.925C>T (p.Pro309Ser)
c.3157C>T (p.Pro1053Ser)
c.3109C>T (p.Pro1037Ser)
c.2878C>T (p.Pro960Ser)
c.2779C>T (p.Pro927Ser)
c.1960C>T (p.Pro654Ser)
n.3511C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51942506G>CCA388028610ATP7Bc.*942C>G (n.*942C>G)
c.*2036C>G (n.*2036C>G)
c.2671C>G (p.Pro891Ala)
c.3292C>G (p.Pro1098Ala)
c.2959C>G (p.Pro987Ala)
c.3040C>G (p.Pro1014Ala)
c.3058C>G (p.Pro1020Ala)
n.3431C>G
n.3655C>G
c.2227C>G (p.Pro743Ala)
c.2002C>G (p.Pro668Ala)
c.3097C>G (p.Pro1033Ala)
c.1070C>G
c.*393C>G (n.*393C>G)
n.4036C>G
n.2637C>G
c.3148C>G (p.Pro1050Ala)
c.3196C>G (p.Pro1066Ala)
c.3256C>G (p.Pro1086Ala)
c.2806C>G (p.Pro936Ala)
c.1108C>G (p.Pro370Ala)
c.925C>G (p.Pro309Ala)
c.3157C>G (p.Pro1053Ala)
c.3109C>G (p.Pro1037Ala)
c.2878C>G (p.Pro960Ala)
c.2779C>G (p.Pro927Ala)
c.1960C>G (p.Pro654Ala)
n.3511C>G
13g.51942506G=CA2091561589ATP7Bc.*942C= (n.*942C=)
c.*2036C= (n.*2036C=)
c.2671C= (p.Pro891=)
c.3292C= (p.Pro1098=)
c.2959C= (p.Pro987=)
c.3040C= (p.Pro1014=)
c.3058C= (p.Pro1020=)
n.3431C=
n.3655C=
c.2227C= (p.Pro743=)
c.2002C= (p.Pro668=)
c.3097C= (p.Pro1033=)
c.1070C=
c.*393C= (n.*393C=)
n.4036C=
n.2637C=
c.3148C= (p.Pro1050=)
c.3196C= (p.Pro1066=)
c.3256C= (p.Pro1086=)
c.2806C= (p.Pro936=)
c.1108C= (p.Pro370=)
c.925C= (p.Pro309=)
c.3157C= (p.Pro1053=)
c.3109C= (p.Pro1037=)
c.2878C= (p.Pro960=)
c.2779C= (p.Pro927=)
c.1960C= (p.Pro654=)
n.3511C=
13g.51942506G>TCA388028615ATP7Bc.*942C>A (n.*942C>A)
c.*2036C>A (n.*2036C>A)
c.2671C>A (p.Pro891Thr)
c.3292C>A (p.Pro1098Thr)
c.2959C>A (p.Pro987Thr)
c.3040C>A (p.Pro1014Thr)
c.3058C>A (p.Pro1020Thr)
n.3431C>A
n.3655C>A
c.2227C>A (p.Pro743Thr)
c.2002C>A (p.Pro668Thr)
c.3097C>A (p.Pro1033Thr)
c.1070C>A
c.*393C>A (n.*393C>A)
n.4036C>A
n.2637C>A
c.3148C>A (p.Pro1050Thr)
c.3196C>A (p.Pro1066Thr)
c.3256C>A (p.Pro1086Thr)
c.2806C>A (p.Pro936Thr)
c.1108C>A (p.Pro370Thr)
c.925C>A (p.Pro309Thr)
c.3157C>A (p.Pro1053Thr)
c.3109C>A (p.Pro1037Thr)
c.2878C>A (p.Pro960Thr)
c.2779C>A (p.Pro927Thr)
c.1960C>A (p.Pro654Thr)
n.3511C>A
13g.51942507C>ACA483894477ATP7Bc.*941G>T (n.*941G>T)
c.*2035G>T (n.*2035G>T)
c.2670G>T (p.Val890=)
c.3291G>T (p.Val1097=)
c.2958G>T (p.Val986=)
c.3039G>T (p.Val1013=)
c.3057G>T (p.Val1019=)
n.3430G>T
n.3654G>T
c.2226G>T (p.Val742=)
c.2001G>T (p.Val667=)
c.3096G>T (p.Val1032=)
c.1069G>T
c.*392G>T (n.*392G>T)
n.4035G>T
n.2636G>T
c.3147G>T (p.Val1049=)
c.3195G>T (p.Val1065=)
c.3255G>T (p.Val1085=)
c.2805G>T (p.Val935=)
c.1107G>T (p.Val369=)
c.924G>T (p.Val308=)
c.3156G>T (p.Val1052=)
c.3108G>T (p.Val1036=)
c.2877G>T (p.Val959=)
c.2778G>T (p.Val926=)
c.1959G>T (p.Val653=)
n.3510G>T
 ClinVar
13g.51942507C=CA2091561593ATP7Bc.*941G= (n.*941G=)
c.*2035G= (n.*2035G=)
c.2670G= (p.Val890=)
c.3291G= (p.Val1097=)
c.2958G= (p.Val986=)
c.3039G= (p.Val1013=)
c.3057G= (p.Val1019=)
n.3430G=
n.3654G=
c.2226G= (p.Val742=)
c.2001G= (p.Val667=)
c.3096G= (p.Val1032=)
c.1069G=
c.*392G= (n.*392G=)
n.4035G=
n.2636G=
c.3147G= (p.Val1049=)
c.3195G= (p.Val1065=)
c.3255G= (p.Val1085=)
c.2805G= (p.Val935=)
c.1107G= (p.Val369=)
c.924G= (p.Val308=)
c.3156G= (p.Val1052=)
c.3108G= (p.Val1036=)
c.2877G= (p.Val959=)
c.2778G= (p.Val926=)
c.1959G= (p.Val653=)
n.3510G=
13g.51942507C>GCA483894479ATP7Bc.*941G>C (n.*941G>C)
c.*2035G>C (n.*2035G>C)
c.2670G>C (p.Val890=)
c.3291G>C (p.Val1097=)
c.2958G>C (p.Val986=)
c.3039G>C (p.Val1013=)
c.3057G>C (p.Val1019=)
n.3430G>C
n.3654G>C
c.2226G>C (p.Val742=)
c.2001G>C (p.Val667=)
c.3096G>C (p.Val1032=)
c.1069G>C
c.*392G>C (n.*392G>C)
n.4035G>C
n.2636G>C
c.3147G>C (p.Val1049=)
c.3195G>C (p.Val1065=)
c.3255G>C (p.Val1085=)
c.2805G>C (p.Val935=)
c.1107G>C (p.Val369=)
c.924G>C (p.Val308=)
c.3156G>C (p.Val1052=)
c.3108G>C (p.Val1036=)
c.2877G>C (p.Val959=)
c.2778G>C (p.Val926=)
c.1959G>C (p.Val653=)
n.3510G>C
13g.51942507C>TCA6988745ATP7Bc.*941G>A (n.*941G>A)
c.*2035G>A (n.*2035G>A)
c.2670G>A (p.Val890=)
c.3291G>A (p.Val1097=)
c.2958G>A (p.Val986=)
c.3039G>A (p.Val1013=)
c.3057G>A (p.Val1019=)
n.3430G>A
n.3654G>A
c.2226G>A (p.Val742=)
c.2001G>A (p.Val667=)
c.3096G>A (p.Val1032=)
c.1069G>A
c.*392G>A (n.*392G>A)
n.4035G>A
n.2636G>A
c.3147G>A (p.Val1049=)
c.3195G>A (p.Val1065=)
c.3255G>A (p.Val1085=)
c.2805G>A (p.Val935=)
c.1107G>A (p.Val369=)
c.924G>A (p.Val308=)
c.3156G>A (p.Val1052=)
c.3108G>A (p.Val1036=)
c.2877G>A (p.Val959=)
c.2778G>A (p.Val926=)
c.1959G>A (p.Val653=)
n.3510G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51942508A>CCA388028623ATP7Bc.*940T>G (n.*940T>G)
c.*2034T>G (n.*2034T>G)
c.2669T>G (p.Val890Gly)
c.3290T>G (p.Val1097Gly)
c.2957T>G (p.Val986Gly)
c.3038T>G (p.Val1013Gly)
c.3056T>G (p.Val1019Gly)
n.3429T>G
n.3653T>G
c.2225T>G (p.Val742Gly)
c.2000T>G (p.Val667Gly)
c.3095T>G (p.Val1032Gly)
c.1068T>G
c.*391T>G (n.*391T>G)
n.4034T>G
n.2635T>G
c.3146T>G (p.Val1049Gly)
c.3194T>G (p.Val1065Gly)
c.3254T>G (p.Val1085Gly)
c.2804T>G (p.Val935Gly)
c.1106T>G (p.Val369Gly)
c.923T>G (p.Val308Gly)
c.3155T>G (p.Val1052Gly)
c.3107T>G (p.Val1036Gly)
c.2876T>G (p.Val959Gly)
c.2777T>G (p.Val926Gly)
c.1958T>G (p.Val653Gly)
n.3509T>G
13g.51942508A>GCA388028622ATP7Bc.*940T>C (n.*940T>C)
c.*2034T>C (n.*2034T>C)
c.2669T>C (p.Val890Ala)
c.3290T>C (p.Val1097Ala)
c.2957T>C (p.Val986Ala)
c.3038T>C (p.Val1013Ala)
c.3056T>C (p.Val1019Ala)
n.3429T>C
n.3653T>C
c.2225T>C (p.Val742Ala)
c.2000T>C (p.Val667Ala)
c.3095T>C (p.Val1032Ala)
c.1068T>C
c.*391T>C (n.*391T>C)
n.4034T>C
n.2635T>C
c.3146T>C (p.Val1049Ala)
c.3194T>C (p.Val1065Ala)
c.3254T>C (p.Val1085Ala)
c.2804T>C (p.Val935Ala)
c.1106T>C (p.Val369Ala)
c.923T>C (p.Val308Ala)
c.3155T>C (p.Val1052Ala)
c.3107T>C (p.Val1036Ala)
c.2876T>C (p.Val959Ala)
c.2777T>C (p.Val926Ala)
c.1958T>C (p.Val653Ala)
n.3509T>C
13g.51942508A>TCA388028637ATP7Bc.*940T>A (n.*940T>A)
c.*2034T>A (n.*2034T>A)
c.2669T>A (p.Val890Glu)
c.3290T>A (p.Val1097Glu)
c.2957T>A (p.Val986Glu)
c.3038T>A (p.Val1013Glu)
c.3056T>A (p.Val1019Glu)
n.3429T>A
n.3653T>A
c.2225T>A (p.Val742Glu)
c.2000T>A (p.Val667Glu)
c.3095T>A (p.Val1032Glu)
c.1068T>A
c.*391T>A (n.*391T>A)
n.4034T>A
n.2635T>A
c.3146T>A (p.Val1049Glu)
c.3194T>A (p.Val1065Glu)
c.3254T>A (p.Val1085Glu)
c.2804T>A (p.Val935Glu)
c.1106T>A (p.Val369Glu)
c.923T>A (p.Val308Glu)
c.3155T>A (p.Val1052Glu)
c.3107T>A (p.Val1036Glu)
c.2876T>A (p.Val959Glu)
c.2777T>A (p.Val926Glu)
c.1958T>A (p.Val653Glu)
n.3509T>A
13g.51942509C>ACA388028642ATP7Bc.*939G>T (n.*939G>T)
c.*2033G>T (n.*2033G>T)
c.2668G>T (p.Val890Leu)
c.3289G>T (p.Val1097Leu)
c.2956G>T (p.Val986Leu)
c.3037G>T (p.Val1013Leu)
c.3055G>T (p.Val1019Leu)
n.3428G>T
n.3652G>T
c.2224G>T (p.Val742Leu)
c.1999G>T (p.Val667Leu)
c.3094G>T (p.Val1032Leu)
c.1067G>T
c.*390G>T (n.*390G>T)
n.4033G>T
n.2634G>T
c.3145G>T (p.Val1049Leu)
c.3193G>T (p.Val1065Leu)
c.3253G>T (p.Val1085Leu)
c.2803G>T (p.Val935Leu)
c.1105G>T (p.Val369Leu)
c.922G>T (p.Val308Leu)
c.3154G>T (p.Val1052Leu)
c.3106G>T (p.Val1036Leu)
c.2875G>T (p.Val959Leu)
c.2776G>T (p.Val926Leu)
c.1957G>T (p.Val653Leu)
n.3508G>T
13g.51942509C=CA2091561597ATP7Bc.*939G= (n.*939G=)
c.*2033G= (n.*2033G=)
c.2668G= (p.Val890=)
c.3289G= (p.Val1097=)
c.2956G= (p.Val986=)
c.3037G= (p.Val1013=)
c.3055G= (p.Val1019=)
n.3428G=
n.3652G=
c.2224G= (p.Val742=)
c.1999G= (p.Val667=)
c.3094G= (p.Val1032=)
c.1067G=
c.*390G= (n.*390G=)
n.4033G=
n.2634G=
c.3145G= (p.Val1049=)
c.3193G= (p.Val1065=)
c.3253G= (p.Val1085=)
c.2803G= (p.Val935=)
c.1105G= (p.Val369=)
c.922G= (p.Val308=)
c.3154G= (p.Val1052=)
c.3106G= (p.Val1036=)
c.2875G= (p.Val959=)
c.2776G= (p.Val926=)
c.1957G= (p.Val653=)
n.3508G=
13g.51942509C>GCA388028656ATP7Bc.*939G>C (n.*939G>C)
c.*2033G>C (n.*2033G>C)
c.2668G>C (p.Val890Leu)
c.3289G>C (p.Val1097Leu)
c.2956G>C (p.Val986Leu)
c.3037G>C (p.Val1013Leu)
c.3055G>C (p.Val1019Leu)
n.3428G>C
n.3652G>C
c.2224G>C (p.Val742Leu)
c.1999G>C (p.Val667Leu)
c.3094G>C (p.Val1032Leu)
c.1067G>C
c.*390G>C (n.*390G>C)
n.4033G>C
n.2634G>C
c.3145G>C (p.Val1049Leu)
c.3193G>C (p.Val1065Leu)
c.3253G>C (p.Val1085Leu)
c.2803G>C (p.Val935Leu)
c.1105G>C (p.Val369Leu)
c.922G>C (p.Val308Leu)
c.3154G>C (p.Val1052Leu)
c.3106G>C (p.Val1036Leu)
c.2875G>C (p.Val959Leu)
c.2776G>C (p.Val926Leu)
c.1957G>C (p.Val653Leu)
n.3508G>C
13g.51942509C>TCA388028651ATP7Bc.*939G>A (n.*939G>A)
c.*2033G>A (n.*2033G>A)
c.2668G>A (p.Val890Met)
c.3289G>A (p.Val1097Met)
c.2956G>A (p.Val986Met)
c.3037G>A (p.Val1013Met)
c.3055G>A (p.Val1019Met)
n.3428G>A
n.3652G>A
c.2224G>A (p.Val742Met)
c.1999G>A (p.Val667Met)
c.3094G>A (p.Val1032Met)
c.1067G>A
c.*390G>A (n.*390G>A)
n.4033G>A
n.2634G>A
c.3145G>A (p.Val1049Met)
c.3193G>A (p.Val1065Met)
c.3253G>A (p.Val1085Met)
c.2803G>A (p.Val935Met)
c.1105G>A (p.Val369Met)
c.922G>A (p.Val308Met)
c.3154G>A (p.Val1052Met)
c.3106G>A (p.Val1036Met)
c.2875G>A (p.Val959Met)
c.2776G>A (p.Val926Met)
c.1957G>A (p.Val653Met)
n.3508G>A
 dbSNP gnomAD v4
13g.51942510T>ACA483894481ATP7Bc.*938A>T (n.*938A>T)
c.*2032A>T (n.*2032A>T)
c.2667A>T (p.Ala889=)
c.3288A>T (p.Ala1096=)
c.2955A>T (p.Ala985=)
c.3036A>T (p.Ala1012=)
c.3054A>T (p.Ala1018=)
n.3427A>T
n.3651A>T
c.2223A>T (p.Ala741=)
c.1998A>T (p.Ala666=)
c.3093A>T (p.Ala1031=)
c.1066A>T
c.*389A>T (n.*389A>T)
n.4032A>T
n.2633A>T
c.3144A>T (p.Ala1048=)
c.3192A>T (p.Ala1064=)
c.3252A>T (p.Ala1084=)
c.2802A>T (p.Ala934=)
c.1104A>T (p.Ala368=)
c.921A>T (p.Ala307=)
c.3153A>T (p.Ala1051=)
c.3105A>T (p.Ala1035=)
c.2874A>T (p.Ala958=)
c.2775A>T (p.Ala925=)
c.1956A>T (p.Ala652=)
n.3507A>T
13g.51942510T>CCA483894483ATP7Bc.*938A>G (n.*938A>G)
c.*2032A>G (n.*2032A>G)
c.2667A>G (p.Ala889=)
c.3288A>G (p.Ala1096=)
c.2955A>G (p.Ala985=)
c.3036A>G (p.Ala1012=)
c.3054A>G (p.Ala1018=)
n.3427A>G
n.3651A>G
c.2223A>G (p.Ala741=)
c.1998A>G (p.Ala666=)
c.3093A>G (p.Ala1031=)
c.1066A>G
c.*389A>G (n.*389A>G)
n.4032A>G
n.2633A>G
c.3144A>G (p.Ala1048=)
c.3192A>G (p.Ala1064=)
c.3252A>G (p.Ala1084=)
c.2802A>G (p.Ala934=)
c.1104A>G (p.Ala368=)
c.921A>G (p.Ala307=)
c.3153A>G (p.Ala1051=)
c.3105A>G (p.Ala1035=)
c.2874A>G (p.Ala958=)
c.2775A>G (p.Ala925=)
c.1956A>G (p.Ala652=)
n.3507A>G
 gnomAD v4
13g.51942510T>GCA483894482ATP7Bc.*938A>C (n.*938A>C)
c.*2032A>C (n.*2032A>C)
c.2667A>C (p.Ala889=)
c.3288A>C (p.Ala1096=)
c.2955A>C (p.Ala985=)
c.3036A>C (p.Ala1012=)
c.3054A>C (p.Ala1018=)
n.3427A>C
n.3651A>C
c.2223A>C (p.Ala741=)
c.1998A>C (p.Ala666=)
c.3093A>C (p.Ala1031=)
c.1066A>C
c.*389A>C (n.*389A>C)
n.4032A>C
n.2633A>C
c.3144A>C (p.Ala1048=)
c.3192A>C (p.Ala1064=)
c.3252A>C (p.Ala1084=)
c.2802A>C (p.Ala934=)
c.1104A>C (p.Ala368=)
c.921A>C (p.Ala307=)
c.3153A>C (p.Ala1051=)
c.3105A>C (p.Ala1035=)
c.2874A>C (p.Ala958=)
c.2775A>C (p.Ala925=)
c.1956A>C (p.Ala652=)
n.3507A>C
 ClinVar
13g.51942511G>ACA388028659ATP7Bc.*937C>T (n.*937C>T)
c.*2031C>T (n.*2031C>T)
c.2666C>T (p.Ala889Val)
c.3287C>T (p.Ala1096Val)
c.2954C>T (p.Ala985Val)
c.3035C>T (p.Ala1012Val)
c.3053C>T (p.Ala1018Val)
n.3426C>T
n.3650C>T
c.2222C>T (p.Ala741Val)
c.1997C>T (p.Ala666Val)
c.3092C>T (p.Ala1031Val)
c.1065C>T
c.*388C>T (n.*388C>T)
n.4031C>T
n.2632C>T
c.3143C>T (p.Ala1048Val)
c.3191C>T (p.Ala1064Val)
c.3251C>T (p.Ala1084Val)
c.2801C>T (p.Ala934Val)
c.1103C>T (p.Ala368Val)
c.920C>T (p.Ala307Val)
c.3152C>T (p.Ala1051Val)
c.3104C>T (p.Ala1035Val)
c.2873C>T (p.Ala958Val)
c.2774C>T (p.Ala925Val)
c.1955C>T (p.Ala652Val)
n.3506C>T
13g.51942511G>CCA388028663ATP7Bc.*937C>G (n.*937C>G)
c.*2031C>G (n.*2031C>G)
c.2666C>G (p.Ala889Gly)
c.3287C>G (p.Ala1096Gly)
c.2954C>G (p.Ala985Gly)
c.3035C>G (p.Ala1012Gly)
c.3053C>G (p.Ala1018Gly)
n.3426C>G
n.3650C>G
c.2222C>G (p.Ala741Gly)
c.1997C>G (p.Ala666Gly)
c.3092C>G (p.Ala1031Gly)
c.1065C>G
c.*388C>G (n.*388C>G)
n.4031C>G
n.2632C>G
c.3143C>G (p.Ala1048Gly)
c.3191C>G (p.Ala1064Gly)
c.3251C>G (p.Ala1084Gly)
c.2801C>G (p.Ala934Gly)
c.1103C>G (p.Ala368Gly)
c.920C>G (p.Ala307Gly)
c.3152C>G (p.Ala1051Gly)
c.3104C>G (p.Ala1035Gly)
c.2873C>G (p.Ala958Gly)
c.2774C>G (p.Ala925Gly)
c.1955C>G (p.Ala652Gly)
n.3506C>G
13g.51942511G>TCA388028672ATP7Bc.*937C>A (n.*937C>A)
c.*2031C>A (n.*2031C>A)
c.2666C>A (p.Ala889Glu)
c.3287C>A (p.Ala1096Glu)
c.2954C>A (p.Ala985Glu)
c.3035C>A (p.Ala1012Glu)
c.3053C>A (p.Ala1018Glu)
n.3426C>A
n.3650C>A
c.2222C>A (p.Ala741Glu)
c.1997C>A (p.Ala666Glu)
c.3092C>A (p.Ala1031Glu)
c.1065C>A
c.*388C>A (n.*388C>A)
n.4031C>A
n.2632C>A
c.3143C>A (p.Ala1048Glu)
c.3191C>A (p.Ala1064Glu)
c.3251C>A (p.Ala1084Glu)
c.2801C>A (p.Ala934Glu)
c.1103C>A (p.Ala368Glu)
c.920C>A (p.Ala307Glu)
c.3152C>A (p.Ala1051Glu)
c.3104C>A (p.Ala1035Glu)
c.2873C>A (p.Ala958Glu)
c.2774C>A (p.Ala925Glu)
c.1955C>A (p.Ala652Glu)
n.3506C>A
13g.51942512C>ACA388028690ATP7Bc.*936G>T (n.*936G>T)
c.*2030G>T (n.*2030G>T)
c.2665G>T (p.Ala889Ser)
c.3286G>T (p.Ala1096Ser)
c.2953G>T (p.Ala985Ser)
c.3034G>T (p.Ala1012Ser)
c.3052G>T (p.Ala1018Ser)
n.3425G>T
n.3649G>T
c.2221G>T (p.Ala741Ser)
c.1996G>T (p.Ala666Ser)
c.3091G>T (p.Ala1031Ser)
c.1064G>T
c.*387G>T (n.*387G>T)
n.4030G>T
n.2631G>T
c.3142G>T (p.Ala1048Ser)
c.3190G>T (p.Ala1064Ser)
c.3250G>T (p.Ala1084Ser)
c.2800G>T (p.Ala934Ser)
c.1102G>T (p.Ala368Ser)
c.919G>T (p.Ala307Ser)
c.3151G>T (p.Ala1051Ser)
c.3103G>T (p.Ala1035Ser)
c.2872G>T (p.Ala958Ser)
c.2773G>T (p.Ala925Ser)
c.1954G>T (p.Ala652Ser)
n.3505G>T
13g.51942512C>GCA388028695ATP7Bc.*936G>C (n.*936G>C)
c.*2030G>C (n.*2030G>C)
c.2665G>C (p.Ala889Pro)
c.3286G>C (p.Ala1096Pro)
c.2953G>C (p.Ala985Pro)
c.3034G>C (p.Ala1012Pro)
c.3052G>C (p.Ala1018Pro)
n.3425G>C
n.3649G>C
c.2221G>C (p.Ala741Pro)
c.1996G>C (p.Ala666Pro)
c.3091G>C (p.Ala1031Pro)
c.1064G>C
c.*387G>C (n.*387G>C)
n.4030G>C
n.2631G>C
c.3142G>C (p.Ala1048Pro)
c.3190G>C (p.Ala1064Pro)
c.3250G>C (p.Ala1084Pro)
c.2800G>C (p.Ala934Pro)
c.1102G>C (p.Ala368Pro)
c.919G>C (p.Ala307Pro)
c.3151G>C (p.Ala1051Pro)
c.3103G>C (p.Ala1035Pro)
c.2872G>C (p.Ala958Pro)
c.2773G>C (p.Ala925Pro)
c.1954G>C (p.Ala652Pro)
n.3505G>C
13g.51942512C>TCA388028699ATP7Bc.*936G>A (n.*936G>A)
c.*2030G>A (n.*2030G>A)
c.2665G>A (p.Ala889Thr)
c.3286G>A (p.Ala1096Thr)
c.2953G>A (p.Ala985Thr)
c.3034G>A (p.Ala1012Thr)
c.3052G>A (p.Ala1018Thr)
n.3425G>A
n.3649G>A
c.2221G>A (p.Ala741Thr)
c.1996G>A (p.Ala666Thr)
c.3091G>A (p.Ala1031Thr)
c.1064G>A
c.*387G>A (n.*387G>A)
n.4030G>A
n.2631G>A
c.3142G>A (p.Ala1048Thr)
c.3190G>A (p.Ala1064Thr)
c.3250G>A (p.Ala1084Thr)
c.2800G>A (p.Ala934Thr)
c.1102G>A (p.Ala368Thr)
c.919G>A (p.Ala307Thr)
c.3151G>A (p.Ala1051Thr)
c.3103G>A (p.Ala1035Thr)
c.2872G>A (p.Ala958Thr)
c.2773G>A (p.Ala925Thr)
c.1954G>A (p.Ala652Thr)
n.3505G>A
 ClinVar
13g.51942513C>ACA388028703ATP7Bc.*935G>T (n.*935G>T)
c.*2029G>T (n.*2029G>T)
c.2664G>T (p.Gln888His)
c.3285G>T (p.Gln1095His)
c.2952G>T (p.Gln984His)
c.3033G>T (p.Gln1011His)
c.3051G>T (p.Gln1017His)
n.3424G>T
n.3648G>T
c.2220G>T (p.Gln740His)
c.1995G>T (p.Gln665His)
c.3090G>T (p.Gln1030His)
c.1063G>T
c.*386G>T (n.*386G>T)
n.4029G>T
n.2630G>T
c.3141G>T (p.Gln1047His)
c.3189G>T (p.Gln1063His)
c.3249G>T (p.Gln1083His)
c.2799G>T (p.Gln933His)
c.1101G>T (p.Gln367His)
c.918G>T (p.Gln306His)
c.3150G>T (p.Gln1050His)
c.3102G>T (p.Gln1034His)
c.2871G>T (p.Gln957His)
c.2772G>T (p.Gln924His)
c.1953G>T (p.Gln651His)
n.3504G>T
13g.51942513C>GCA388028707ATP7Bc.*935G>C (n.*935G>C)
c.*2029G>C (n.*2029G>C)
c.2664G>C (p.Gln888His)
c.3285G>C (p.Gln1095His)
c.2952G>C (p.Gln984His)
c.3033G>C (p.Gln1011His)
c.3051G>C (p.Gln1017His)
n.3424G>C
n.3648G>C
c.2220G>C (p.Gln740His)
c.1995G>C (p.Gln665His)
c.3090G>C (p.Gln1030His)
c.1063G>C
c.*386G>C (n.*386G>C)
n.4029G>C
n.2630G>C
c.3141G>C (p.Gln1047His)
c.3189G>C (p.Gln1063His)
c.3249G>C (p.Gln1083His)
c.2799G>C (p.Gln933His)
c.1101G>C (p.Gln367His)
c.918G>C (p.Gln306His)
c.3150G>C (p.Gln1050His)
c.3102G>C (p.Gln1034His)
c.2871G>C (p.Gln957His)
c.2772G>C (p.Gln924His)
c.1953G>C (p.Gln651His)
n.3504G>C
13g.51942513C>TCA483894488ATP7Bc.*935G>A (n.*935G>A)
c.*2029G>A (n.*2029G>A)
c.2664G>A (p.Gln888=)
c.3285G>A (p.Gln1095=)
c.2952G>A (p.Gln984=)
c.3033G>A (p.Gln1011=)
c.3051G>A (p.Gln1017=)
n.3424G>A
n.3648G>A
c.2220G>A (p.Gln740=)
c.1995G>A (p.Gln665=)
c.3090G>A (p.Gln1030=)
c.1063G>A
c.*386G>A (n.*386G>A)
n.4029G>A
n.2630G>A
c.3141G>A (p.Gln1047=)
c.3189G>A (p.Gln1063=)
c.3249G>A (p.Gln1083=)
c.2799G>A (p.Gln933=)
c.1101G>A (p.Gln367=)
c.918G>A (p.Gln306=)
c.3150G>A (p.Gln1050=)
c.3102G>A (p.Gln1034=)
c.2871G>A (p.Gln957=)
c.2772G>A (p.Gln924=)
c.1953G>A (p.Gln651=)
n.3504G>A
13g.51942514T>ACA388028718ATP7Bc.*934A>T (n.*934A>T)
c.*2028A>T (n.*2028A>T)
c.2663A>T (p.Gln888Leu)
c.3284A>T (p.Gln1095Leu)
c.2951A>T (p.Gln984Leu)
c.3032A>T (p.Gln1011Leu)
c.3050A>T (p.Gln1017Leu)
n.3423A>T
n.3647A>T
c.2219A>T (p.Gln740Leu)
c.1994A>T (p.Gln665Leu)
c.3089A>T (p.Gln1030Leu)
c.1062A>T
c.*385A>T (n.*385A>T)
n.4028A>T
n.2629A>T
c.3140A>T (p.Gln1047Leu)
c.3188A>T (p.Gln1063Leu)
c.3248A>T (p.Gln1083Leu)
c.2798A>T (p.Gln933Leu)
c.1100A>T (p.Gln367Leu)
c.917A>T (p.Gln306Leu)
c.3149A>T (p.Gln1050Leu)
c.3101A>T (p.Gln1034Leu)
c.2870A>T (p.Gln957Leu)
c.2771A>T (p.Gln924Leu)
c.1952A>T (p.Gln651Leu)
n.3503A>T
13g.51942514T>CCA388028724ATP7Bc.*934A>G (n.*934A>G)
c.*2028A>G (n.*2028A>G)
c.2663A>G (p.Gln888Arg)
c.3284A>G (p.Gln1095Arg)
c.2951A>G (p.Gln984Arg)
c.3032A>G (p.Gln1011Arg)
c.3050A>G (p.Gln1017Arg)
n.3423A>G
n.3647A>G
c.2219A>G (p.Gln740Arg)
c.1994A>G (p.Gln665Arg)
c.3089A>G (p.Gln1030Arg)
c.1062A>G
c.*385A>G (n.*385A>G)
n.4028A>G
n.2629A>G
c.3140A>G (p.Gln1047Arg)
c.3188A>G (p.Gln1063Arg)
c.3248A>G (p.Gln1083Arg)
c.2798A>G (p.Gln933Arg)
c.1100A>G (p.Gln367Arg)
c.917A>G (p.Gln306Arg)
c.3149A>G (p.Gln1050Arg)
c.3101A>G (p.Gln1034Arg)
c.2870A>G (p.Gln957Arg)
c.2771A>G (p.Gln924Arg)
c.1952A>G (p.Gln651Arg)
n.3503A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51942514T>GCA388028728ATP7Bc.*934A>C (n.*934A>C)
c.*2028A>C (n.*2028A>C)
c.2663A>C (p.Gln888Pro)
c.3284A>C (p.Gln1095Pro)
c.2951A>C (p.Gln984Pro)
c.3032A>C (p.Gln1011Pro)
c.3050A>C (p.Gln1017Pro)
n.3423A>C
n.3647A>C
c.2219A>C (p.Gln740Pro)
c.1994A>C (p.Gln665Pro)
c.3089A>C (p.Gln1030Pro)
c.1062A>C
c.*385A>C (n.*385A>C)
n.4028A>C
n.2629A>C
c.3140A>C (p.Gln1047Pro)
c.3188A>C (p.Gln1063Pro)
c.3248A>C (p.Gln1083Pro)
c.2798A>C (p.Gln933Pro)
c.1100A>C (p.Gln367Pro)
c.917A>C (p.Gln306Pro)
c.3149A>C (p.Gln1050Pro)
c.3101A>C (p.Gln1034Pro)
c.2870A>C (p.Gln957Pro)
c.2771A>C (p.Gln924Pro)
c.1952A>C (p.Gln651Pro)
n.3503A>C
 ClinVar dbSNP gnomAD v4
13g.51942514T=CA2091561601ATP7Bc.*934A= (n.*934A=)
c.*2028A= (n.*2028A=)
c.2663A= (p.Gln888=)
c.3284A= (p.Gln1095=)
c.2951A= (p.Gln984=)
c.3032A= (p.Gln1011=)
c.3050A= (p.Gln1017=)
n.3423A=
n.3647A=
c.2219A= (p.Gln740=)
c.1994A= (p.Gln665=)
c.3089A= (p.Gln1030=)
c.1062A=
c.*385A= (n.*385A=)
n.4028A=
n.2629A=
c.3140A= (p.Gln1047=)
c.3188A= (p.Gln1063=)
c.3248A= (p.Gln1083=)
c.2798A= (p.Gln933=)
c.1100A= (p.Gln367=)
c.917A= (p.Gln306=)
c.3149A= (p.Gln1050=)
c.3101A= (p.Gln1034=)
c.2870A= (p.Gln957=)
c.2771A= (p.Gln924=)
c.1952A= (p.Gln651=)
n.3503A=
13g.51942514_51942515delinsTGCA2091561600ATP7Bc.*933_*934delinsCA (n.*933_*934delinsCA)
c.*2027_*2028delinsCA (n.*2027_*2028delinsCA)
c.2662_2663delinsCA (p.Gln888=)
c.3283_3284delinsCA (p.Gln1095=)
c.2950_2951delinsCA (p.Gln984=)
c.3031_3032delinsCA (p.Gln1011=)
c.3049_3050delinsCA (p.Gln1017=)
n.3422_3423delinsCA
n.3646_3647delinsCA
c.2218_2219delinsCA (p.Gln740=)
c.1993_1994delinsCA (p.Gln665=)
c.3088_3089delinsCA (p.Gln1030=)
c.1061_1062delinsCA
c.*384_*385delinsCA (n.*384_*385delinsCA)
n.4027_4028delinsCA
n.2628_2629delinsCA
c.3139_3140delinsCA (p.Gln1047=)
c.3187_3188delinsCA (p.Gln1063=)
c.3247_3248delinsCA (p.Gln1083=)
c.2797_2798delinsCA (p.Gln933=)
c.1099_1100delinsCA (p.Gln367=)
c.916_917delinsCA (p.Gln306=)
c.3148_3149delinsCA (p.Gln1050=)
c.3100_3101delinsCA (p.Gln1034=)
c.2869_2870delinsCA (p.Gln957=)
c.2770_2771delinsCA (p.Gln924=)
c.1951_1952delinsCA (p.Gln651=)
n.3502_3503delinsCA
13g.51942515G>ACA388028743ATP7Bc.*933C>T (n.*933C>T)
c.*2027C>T (n.*2027C>T)
c.2662C>T (p.Gln888Ter)
c.3283C>T (p.Gln1095Ter)
c.2950C>T (p.Gln984Ter)
c.3031C>T (p.Gln1011Ter)
c.3049C>T (p.Gln1017Ter)
n.3422C>T
n.3646C>T
c.2218C>T (p.Gln740Ter)
c.1993C>T (p.Gln665Ter)
c.3088C>T (p.Gln1030Ter)
c.1061C>T
c.*384C>T (n.*384C>T)
n.4027C>T
n.2628C>T
c.3139C>T (p.Gln1047Ter)
c.3187C>T (p.Gln1063Ter)
c.3247C>T (p.Gln1083Ter)
c.2797C>T (p.Gln933Ter)
c.1099C>T (p.Gln367Ter)
c.916C>T (p.Gln306Ter)
c.3148C>T (p.Gln1050Ter)
c.3100C>T (p.Gln1034Ter)
c.2869C>T (p.Gln957Ter)
c.2770C>T (p.Gln924Ter)
c.1951C>T (p.Gln651Ter)
n.3502C>T
 ClinVar
13g.51942515G>CCA388028739ATP7Bc.*933C>G (n.*933C>G)
c.*2027C>G (n.*2027C>G)
c.2662C>G (p.Gln888Glu)
c.3283C>G (p.Gln1095Glu)
c.2950C>G (p.Gln984Glu)
c.3031C>G (p.Gln1011Glu)
c.3049C>G (p.Gln1017Glu)
n.3422C>G
n.3646C>G
c.2218C>G (p.Gln740Glu)
c.1993C>G (p.Gln665Glu)
c.3088C>G (p.Gln1030Glu)
c.1061C>G
c.*384C>G (n.*384C>G)
n.4027C>G
n.2628C>G
c.3139C>G (p.Gln1047Glu)
c.3187C>G (p.Gln1063Glu)
c.3247C>G (p.Gln1083Glu)
c.2797C>G (p.Gln933Glu)
c.1099C>G (p.Gln367Glu)
c.916C>G (p.Gln306Glu)
c.3148C>G (p.Gln1050Glu)
c.3100C>G (p.Gln1034Glu)
c.2869C>G (p.Gln957Glu)
c.2770C>G (p.Gln924Glu)
c.1951C>G (p.Gln651Glu)
n.3502C>G
13g.51942515G>TCA388028736ATP7Bc.*933C>A (n.*933C>A)
c.*2027C>A (n.*2027C>A)
c.2662C>A (p.Gln888Lys)
c.3283C>A (p.Gln1095Lys)
c.2950C>A (p.Gln984Lys)
c.3031C>A (p.Gln1011Lys)
c.3049C>A (p.Gln1017Lys)
n.3422C>A
n.3646C>A
c.2218C>A (p.Gln740Lys)
c.1993C>A (p.Gln665Lys)
c.3088C>A (p.Gln1030Lys)
c.1061C>A
c.*384C>A (n.*384C>A)
n.4027C>A
n.2628C>A
c.3139C>A (p.Gln1047Lys)
c.3187C>A (p.Gln1063Lys)
c.3247C>A (p.Gln1083Lys)
c.2797C>A (p.Gln933Lys)
c.1099C>A (p.Gln367Lys)
c.916C>A (p.Gln306Lys)
c.3148C>A (p.Gln1050Lys)
c.3100C>A (p.Gln1034Lys)
c.2869C>A (p.Gln957Lys)
c.2770C>A (p.Gln924Lys)
c.1951C>A (p.Gln651Lys)
n.3502C>A
13g.51942516delCA6988746ATP7Bc.*933del (n.*933del)
c.*2027del (n.*2027del)
c.2662del (p.Gln888ArgfsTer26)
c.3283del (p.Gln1095ArgfsTer26)
c.2950del (p.Gln984ArgfsTer26)
c.3031del (p.Gln1011ArgfsTer26)
c.3049del (p.Gln1017ArgfsTer26)
n.3422del
n.3646del
c.2218del (p.Gln740ArgfsTer26)
c.1993del (p.Gln665ArgfsTer26)
c.3088del (p.Gln1030ArgfsTer26)
c.1061del
c.*384del (n.*384del)
n.4027del
n.2628del
c.3139del (p.Gln1047ArgfsTer26)
c.3187del (p.Gln1063ArgfsTer26)
c.3247del (p.Gln1083ArgfsTer26)
c.2797del (p.Gln933ArgfsTer26)
c.1099del (p.Gln367ArgfsTer26)
c.916del (p.Gln306ArgfsTer26)
c.3148del (p.Gln1050ArgfsTer26)
c.3100del (p.Gln1034ArgfsTer26)
c.2869del (p.Gln957ArgfsTer26)
c.2770del (p.Gln924ArgfsTer26)
c.1951del (p.Gln651ArgfsTer26)
n.3502del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51942516G>ACA483894492ATP7Bc.*932C>T (n.*932C>T)
c.*2026C>T (n.*2026C>T)
c.2661C>T (p.Phe887=)
c.3282C>T (p.Phe1094=)
c.2949C>T (p.Phe983=)
c.3030C>T (p.Phe1010=)
c.3048C>T (p.Phe1016=)
n.3421C>T
n.3645C>T
c.2217C>T (p.Phe739=)
c.1992C>T (p.Phe664=)
c.3087C>T (p.Phe1029=)
c.1060C>T
c.*383C>T (n.*383C>T)
n.4026C>T
n.2627C>T
c.3138C>T (p.Phe1046=)
c.3186C>T (p.Phe1062=)
c.3246C>T (p.Phe1082=)
c.2796C>T (p.Phe932=)
c.1098C>T (p.Phe366=)
c.915C>T (p.Phe305=)
c.3147C>T (p.Phe1049=)
c.3099C>T (p.Phe1033=)
c.2868C>T (p.Phe956=)
c.2769C>T (p.Phe923=)
c.1950C>T (p.Phe650=)
n.3501C>T
 gnomAD v4 COSMIC
13g.51942516G>CCA388028751ATP7Bc.*932C>G (n.*932C>G)
c.*2026C>G (n.*2026C>G)
c.2661C>G (p.Phe887Leu)
c.3282C>G (p.Phe1094Leu)
c.2949C>G (p.Phe983Leu)
c.3030C>G (p.Phe1010Leu)
c.3048C>G (p.Phe1016Leu)
n.3421C>G
n.3645C>G
c.2217C>G (p.Phe739Leu)
c.1992C>G (p.Phe664Leu)
c.3087C>G (p.Phe1029Leu)
c.1060C>G
c.*383C>G (n.*383C>G)
n.4026C>G
n.2627C>G
c.3138C>G (p.Phe1046Leu)
c.3186C>G (p.Phe1062Leu)
c.3246C>G (p.Phe1082Leu)
c.2796C>G (p.Phe932Leu)
c.1098C>G (p.Phe366Leu)
c.915C>G (p.Phe305Leu)
c.3147C>G (p.Phe1049Leu)
c.3099C>G (p.Phe1033Leu)
c.2868C>G (p.Phe956Leu)
c.2769C>G (p.Phe923Leu)
c.1950C>G (p.Phe650Leu)
n.3501C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51942516G=CA2091561613ATP7Bc.*932C= (n.*932C=)
c.*2026C= (n.*2026C=)
c.2661C= (p.Phe887=)
c.3282C= (p.Phe1094=)
c.2949C= (p.Phe983=)
c.3030C= (p.Phe1010=)
c.3048C= (p.Phe1016=)
n.3421C=
n.3645C=
c.2217C= (p.Phe739=)
c.1992C= (p.Phe664=)
c.3087C= (p.Phe1029=)
c.1060C=
c.*383C= (n.*383C=)
n.4026C=
n.2627C=
c.3138C= (p.Phe1046=)
c.3186C= (p.Phe1062=)
c.3246C= (p.Phe1082=)
c.2796C= (p.Phe932=)
c.1098C= (p.Phe366=)
c.915C= (p.Phe305=)
c.3147C= (p.Phe1049=)
c.3099C= (p.Phe1033=)
c.2868C= (p.Phe956=)
c.2769C= (p.Phe923=)
c.1950C= (p.Phe650=)
n.3501C=
13g.51942516G>TCA388028758ATP7Bc.*932C>A (n.*932C>A)
c.*2026C>A (n.*2026C>A)
c.2661C>A (p.Phe887Leu)
c.3282C>A (p.Phe1094Leu)
c.2949C>A (p.Phe983Leu)
c.3030C>A (p.Phe1010Leu)
c.3048C>A (p.Phe1016Leu)
n.3421C>A
n.3645C>A
c.2217C>A (p.Phe739Leu)
c.1992C>A (p.Phe664Leu)
c.3087C>A (p.Phe1029Leu)
c.1060C>A
c.*383C>A (n.*383C>A)
n.4026C>A
n.2627C>A
c.3138C>A (p.Phe1046Leu)
c.3186C>A (p.Phe1062Leu)
c.3246C>A (p.Phe1082Leu)
c.2796C>A (p.Phe932Leu)
c.1098C>A (p.Phe366Leu)
c.915C>A (p.Phe305Leu)
c.3147C>A (p.Phe1049Leu)
c.3099C>A (p.Phe1033Leu)
c.2868C>A (p.Phe956Leu)
c.2769C>A (p.Phe923Leu)
c.1950C>A (p.Phe650Leu)
n.3501C>A
 ClinVar dbSNP
13g.51942517A=CA2091561615ATP7Bc.*931T= (n.*931T=)
c.*2025T= (n.*2025T=)
c.2660T= (p.Phe887=)
c.3281T= (p.Phe1094=)
c.2948T= (p.Phe983=)
c.3029T= (p.Phe1010=)
c.3047T= (p.Phe1016=)
n.3420T=
n.3644T=
c.2216T= (p.Phe739=)
c.1991T= (p.Phe664=)
c.3086T= (p.Phe1029=)
c.1059T=
c.*382T= (n.*382T=)
n.4025T=
n.2626T=
c.3137T= (p.Phe1046=)
c.3185T= (p.Phe1062=)
c.3245T= (p.Phe1082=)
c.2795T= (p.Phe932=)
c.1097T= (p.Phe366=)
c.914T= (p.Phe305=)
c.3146T= (p.Phe1049=)
c.3098T= (p.Phe1033=)
c.2867T= (p.Phe956=)
c.2768T= (p.Phe923=)
c.1949T= (p.Phe650=)
n.3500T=
13g.51942517A>CCA388028762ATP7Bc.*931T>G (n.*931T>G)
c.*2025T>G (n.*2025T>G)
c.2660T>G (p.Phe887Cys)
c.3281T>G (p.Phe1094Cys)
c.2948T>G (p.Phe983Cys)
c.3029T>G (p.Phe1010Cys)
c.3047T>G (p.Phe1016Cys)
n.3420T>G
n.3644T>G
c.2216T>G (p.Phe739Cys)
c.1991T>G (p.Phe664Cys)
c.3086T>G (p.Phe1029Cys)
c.1059T>G
c.*382T>G (n.*382T>G)
n.4025T>G
n.2626T>G
c.3137T>G (p.Phe1046Cys)
c.3185T>G (p.Phe1062Cys)
c.3245T>G (p.Phe1082Cys)
c.2795T>G (p.Phe932Cys)
c.1097T>G (p.Phe366Cys)
c.914T>G (p.Phe305Cys)
c.3146T>G (p.Phe1049Cys)
c.3098T>G (p.Phe1033Cys)
c.2867T>G (p.Phe956Cys)
c.2768T>G (p.Phe923Cys)
c.1949T>G (p.Phe650Cys)
n.3500T>G
13g.51942517A>GCA388028766ATP7Bc.*931T>C (n.*931T>C)
c.*2025T>C (n.*2025T>C)
c.2660T>C (p.Phe887Ser)
c.3281T>C (p.Phe1094Ser)
c.2948T>C (p.Phe983Ser)
c.3029T>C (p.Phe1010Ser)
c.3047T>C (p.Phe1016Ser)
n.3420T>C
n.3644T>C
c.2216T>C (p.Phe739Ser)
c.1991T>C (p.Phe664Ser)
c.3086T>C (p.Phe1029Ser)
c.1059T>C
c.*382T>C (n.*382T>C)
n.4025T>C
n.2626T>C
c.3137T>C (p.Phe1046Ser)
c.3185T>C (p.Phe1062Ser)
c.3245T>C (p.Phe1082Ser)
c.2795T>C (p.Phe932Ser)
c.1097T>C (p.Phe366Ser)
c.914T>C (p.Phe305Ser)
c.3146T>C (p.Phe1049Ser)
c.3098T>C (p.Phe1033Ser)
c.2867T>C (p.Phe956Ser)
c.2768T>C (p.Phe923Ser)
c.1949T>C (p.Phe650Ser)
n.3500T>C
13g.51942517A>TCA388028770ATP7Bc.*931T>A (n.*931T>A)
c.*2025T>A (n.*2025T>A)
c.2660T>A (p.Phe887Tyr)
c.3281T>A (p.Phe1094Tyr)
c.2948T>A (p.Phe983Tyr)
c.3029T>A (p.Phe1010Tyr)
c.3047T>A (p.Phe1016Tyr)
n.3420T>A
n.3644T>A
c.2216T>A (p.Phe739Tyr)
c.1991T>A (p.Phe664Tyr)
c.3086T>A (p.Phe1029Tyr)
c.1059T>A
c.*382T>A (n.*382T>A)
n.4025T>A
n.2626T>A
c.3137T>A (p.Phe1046Tyr)
c.3185T>A (p.Phe1062Tyr)
c.3245T>A (p.Phe1082Tyr)
c.2795T>A (p.Phe932Tyr)
c.1097T>A (p.Phe366Tyr)
c.914T>A (p.Phe305Tyr)
c.3146T>A (p.Phe1049Tyr)
c.3098T>A (p.Phe1033Tyr)
c.2867T>A (p.Phe956Tyr)
c.2768T>A (p.Phe923Tyr)
c.1949T>A (p.Phe650Tyr)
n.3500T>A
13g.51942518A=CA2091561623ATP7Bc.*930T= (n.*930T=)
c.*2024T= (n.*2024T=)
c.2659T= (p.Phe887=)
c.3280T= (p.Phe1094=)
c.2947T= (p.Phe983=)
c.3028T= (p.Phe1010=)
c.3046T= (p.Phe1016=)
n.3419T=
n.3643T=
c.2215T= (p.Phe739=)
c.1990T= (p.Phe664=)
c.3085T= (p.Phe1029=)
c.1058T=
c.*381T= (n.*381T=)
n.4024T=
n.2625T=
c.3136T= (p.Phe1046=)
c.3184T= (p.Phe1062=)
c.3244T= (p.Phe1082=)
c.2794T= (p.Phe932=)
c.1096T= (p.Phe366=)
c.913T= (p.Phe305=)
c.3145T= (p.Phe1049=)
c.3097T= (p.Phe1033=)
c.2866T= (p.Phe956=)
c.2767T= (p.Phe923=)
c.1948T= (p.Phe650=)
n.3499T=
13g.51942518A>CCA388028772ATP7Bc.*930T>G (n.*930T>G)
c.*2024T>G (n.*2024T>G)
c.2659T>G (p.Phe887Val)
c.3280T>G (p.Phe1094Val)
c.2947T>G (p.Phe983Val)
c.3028T>G (p.Phe1010Val)
c.3046T>G (p.Phe1016Val)
n.3419T>G
n.3643T>G
c.2215T>G (p.Phe739Val)
c.1990T>G (p.Phe664Val)
c.3085T>G (p.Phe1029Val)
c.1058T>G
c.*381T>G (n.*381T>G)
n.4024T>G
n.2625T>G
c.3136T>G (p.Phe1046Val)
c.3184T>G (p.Phe1062Val)
c.3244T>G (p.Phe1082Val)
c.2794T>G (p.Phe932Val)
c.1096T>G (p.Phe366Val)
c.913T>G (p.Phe305Val)
c.3145T>G (p.Phe1049Val)
c.3097T>G (p.Phe1033Val)
c.2866T>G (p.Phe956Val)
c.2767T>G (p.Phe923Val)
c.1948T>G (p.Phe650Val)
n.3499T>G
13g.51942518A>GCA388028775ATP7Bc.*930T>C (n.*930T>C)
c.*2024T>C (n.*2024T>C)
c.2659T>C (p.Phe887Leu)
c.3280T>C (p.Phe1094Leu)
c.2947T>C (p.Phe983Leu)
c.3028T>C (p.Phe1010Leu)
c.3046T>C (p.Phe1016Leu)
n.3419T>C
n.3643T>C
c.2215T>C (p.Phe739Leu)
c.1990T>C (p.Phe664Leu)
c.3085T>C (p.Phe1029Leu)
c.1058T>C
c.*381T>C (n.*381T>C)
n.4024T>C
n.2625T>C
c.3136T>C (p.Phe1046Leu)
c.3184T>C (p.Phe1062Leu)
c.3244T>C (p.Phe1082Leu)
c.2794T>C (p.Phe932Leu)
c.1096T>C (p.Phe366Leu)
c.913T>C (p.Phe305Leu)
c.3145T>C (p.Phe1049Leu)
c.3097T>C (p.Phe1033Leu)
c.2866T>C (p.Phe956Leu)
c.2767T>C (p.Phe923Leu)
c.1948T>C (p.Phe650Leu)
n.3499T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51942518A>TCA388028777ATP7Bc.*930T>A (n.*930T>A)
c.*2024T>A (n.*2024T>A)
c.2659T>A (p.Phe887Ile)
c.3280T>A (p.Phe1094Ile)
c.2947T>A (p.Phe983Ile)
c.3028T>A (p.Phe1010Ile)
c.3046T>A (p.Phe1016Ile)
n.3419T>A
n.3643T>A
c.2215T>A (p.Phe739Ile)
c.1990T>A (p.Phe664Ile)
c.3085T>A (p.Phe1029Ile)
c.1058T>A
c.*381T>A (n.*381T>A)
n.4024T>A
n.2625T>A
c.3136T>A (p.Phe1046Ile)
c.3184T>A (p.Phe1062Ile)
c.3244T>A (p.Phe1082Ile)
c.2794T>A (p.Phe932Ile)
c.1096T>A (p.Phe366Ile)
c.913T>A (p.Phe305Ile)
c.3145T>A (p.Phe1049Ile)
c.3097T>A (p.Phe1033Ile)
c.2866T>A (p.Phe956Ile)
c.2767T>A (p.Phe923Ile)
c.1948T>A (p.Phe650Ile)
n.3499T>A
13g.51942518_51942519insTACACA891863025ATP7Bc.*930_*931insGTAT (n.*930_*931insGTAT)
c.*2024_*2025insGTAT (n.*2024_*2025insGTAT)
c.2659_2660insGTAT (p.Phe887CysfsTer25)
c.3280_3281insGTAT (p.Phe1094CysfsTer25)
c.2947_2948insGTAT (p.Phe983CysfsTer25)
c.3028_3029insGTAT (p.Phe1010CysfsTer25)
c.3046_3047insGTAT (p.Phe1016CysfsTer25)
n.3419_3420insGTAT
n.3643_3644insGTAT
c.2215_2216insGTAT (p.Phe739CysfsTer25)
c.1990_1991insGTAT (p.Phe664CysfsTer25)
c.3085_3086insGTAT (p.Phe1029CysfsTer25)
c.1058_1059insGTAT
c.*381_*382insGTAT (n.*381_*382insGTAT)
n.4024_4025insGTAT
n.2625_2626insGTAT
c.3136_3137insGTAT (p.Phe1046CysfsTer25)
c.3184_3185insGTAT (p.Phe1062CysfsTer25)
c.3244_3245insGTAT (p.Phe1082CysfsTer25)
c.2794_2795insGTAT (p.Phe932CysfsTer25)
c.1096_1097insGTAT (p.Phe366CysfsTer25)
c.913_914insGTAT (p.Phe305CysfsTer25)
c.3145_3146insGTAT (p.Phe1049CysfsTer25)
c.3097_3098insGTAT (p.Phe1033CysfsTer25)
c.2866_2867insGTAT (p.Phe956CysfsTer25)
c.2767_2768insGTAT (p.Phe923CysfsTer25)
c.1948_1949insGTAT (p.Phe650CysfsTer25)
n.3499_3500insGTAT
 ClinVar dbSNP
13g.51942519G>ACA483894494ATP7Bc.*929C>T (n.*929C>T)
c.*2023C>T (n.*2023C>T)
c.2658C>T (p.Asp886=)
c.3279C>T (p.Asp1093=)
c.2946C>T (p.Asp982=)
c.3027C>T (p.Asp1009=)
c.3045C>T (p.Asp1015=)
n.3418C>T
n.3642C>T
c.2214C>T (p.Asp738=)
c.1989C>T (p.Asp663=)
c.3084C>T (p.Asp1028=)
c.1057C>T
c.*380C>T (n.*380C>T)
n.4023C>T
n.2624C>T
c.3135C>T (p.Asp1045=)
c.3183C>T (p.Asp1061=)
c.3243C>T (p.Asp1081=)
c.2793C>T (p.Asp931=)
c.1095C>T (p.Asp365=)
c.912C>T (p.Asp304=)
c.3144C>T (p.Asp1048=)
c.3096C>T (p.Asp1032=)
c.2865C>T (p.Asp955=)
c.2766C>T (p.Asp922=)
c.1947C>T (p.Asp649=)
n.3498C>T
13g.51942519G>CCA388028778ATP7Bc.*929C>G (n.*929C>G)
c.*2023C>G (n.*2023C>G)
c.2658C>G (p.Asp886Glu)
c.3279C>G (p.Asp1093Glu)
c.2946C>G (p.Asp982Glu)
c.3027C>G (p.Asp1009Glu)
c.3045C>G (p.Asp1015Glu)
n.3418C>G
n.3642C>G
c.2214C>G (p.Asp738Glu)
c.1989C>G (p.Asp663Glu)
c.3084C>G (p.Asp1028Glu)
c.1057C>G
c.*380C>G (n.*380C>G)
n.4023C>G
n.2624C>G
c.3135C>G (p.Asp1045Glu)
c.3183C>G (p.Asp1061Glu)
c.3243C>G (p.Asp1081Glu)
c.2793C>G (p.Asp931Glu)
c.1095C>G (p.Asp365Glu)
c.912C>G (p.Asp304Glu)
c.3144C>G (p.Asp1048Glu)
c.3096C>G (p.Asp1032Glu)
c.2865C>G (p.Asp955Glu)
c.2766C>G (p.Asp922Glu)
c.1947C>G (p.Asp649Glu)
n.3498C>G
13g.51942519G>TCA388028779ATP7Bc.*929C>A (n.*929C>A)
c.*2023C>A (n.*2023C>A)
c.2658C>A (p.Asp886Glu)
c.3279C>A (p.Asp1093Glu)
c.2946C>A (p.Asp982Glu)
c.3027C>A (p.Asp1009Glu)
c.3045C>A (p.Asp1015Glu)
n.3418C>A
n.3642C>A
c.2214C>A (p.Asp738Glu)
c.1989C>A (p.Asp663Glu)
c.3084C>A (p.Asp1028Glu)
c.1057C>A
c.*380C>A (n.*380C>A)
n.4023C>A
n.2624C>A
c.3135C>A (p.Asp1045Glu)
c.3183C>A (p.Asp1061Glu)
c.3243C>A (p.Asp1081Glu)
c.2793C>A (p.Asp931Glu)
c.1095C>A (p.Asp365Glu)
c.912C>A (p.Asp304Glu)
c.3144C>A (p.Asp1048Glu)
c.3096C>A (p.Asp1032Glu)
c.2865C>A (p.Asp955Glu)
c.2766C>A (p.Asp922Glu)
c.1947C>A (p.Asp649Glu)
n.3498C>A
13g.51942520T>ACA388028780ATP7Bc.*928A>T (n.*928A>T)
c.*2022A>T (n.*2022A>T)
c.2657A>T (p.Asp886Val)
c.3278A>T (p.Asp1093Val)
c.2945A>T (p.Asp982Val)
c.3026A>T (p.Asp1009Val)
c.3044A>T (p.Asp1015Val)
n.3417A>T
n.3641A>T
c.2213A>T (p.Asp738Val)
c.1988A>T (p.Asp663Val)
c.3083A>T (p.Asp1028Val)
c.1056A>T
c.*379A>T (n.*379A>T)
n.4022A>T
n.2623A>T
c.3134A>T (p.Asp1045Val)
c.3182A>T (p.Asp1061Val)
c.3242A>T (p.Asp1081Val)
c.2792A>T (p.Asp931Val)
c.1094A>T (p.Asp365Val)
c.911A>T (p.Asp304Val)
c.3143A>T (p.Asp1048Val)
c.3095A>T (p.Asp1032Val)
c.2864A>T (p.Asp955Val)
c.2765A>T (p.Asp922Val)
c.1946A>T (p.Asp649Val)
n.3497A>T
13g.51942520T>CCA250078566ATP7Bc.*928A>G (n.*928A>G)
c.*2022A>G (n.*2022A>G)
c.2657A>G (p.Asp886Gly)
c.3278A>G (p.Asp1093Gly)
c.2945A>G (p.Asp982Gly)
c.3026A>G (p.Asp1009Gly)
c.3044A>G (p.Asp1015Gly)
n.3417A>G
n.3641A>G
c.2213A>G (p.Asp738Gly)
c.1988A>G (p.Asp663Gly)
c.3083A>G (p.Asp1028Gly)
c.1056A>G
c.*379A>G (n.*379A>G)
n.4022A>G
n.2623A>G
c.3134A>G (p.Asp1045Gly)
c.3182A>G (p.Asp1061Gly)
c.3242A>G (p.Asp1081Gly)
c.2792A>G (p.Asp931Gly)
c.1094A>G (p.Asp365Gly)
c.911A>G (p.Asp304Gly)
c.3143A>G (p.Asp1048Gly)
c.3095A>G (p.Asp1032Gly)
c.2864A>G (p.Asp955Gly)
c.2765A>G (p.Asp922Gly)
c.1946A>G (p.Asp649Gly)
n.3497A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51942520T>GCA388028782ATP7Bc.*928A>C (n.*928A>C)
c.*2022A>C (n.*2022A>C)
c.2657A>C (p.Asp886Ala)
c.3278A>C (p.Asp1093Ala)
c.2945A>C (p.Asp982Ala)
c.3026A>C (p.Asp1009Ala)
c.3044A>C (p.Asp1015Ala)
n.3417A>C
n.3641A>C
c.2213A>C (p.Asp738Ala)
c.1988A>C (p.Asp663Ala)
c.3083A>C (p.Asp1028Ala)
c.1056A>C
c.*379A>C (n.*379A>C)
n.4022A>C
n.2623A>C
c.3134A>C (p.Asp1045Ala)
c.3182A>C (p.Asp1061Ala)
c.3242A>C (p.Asp1081Ala)
c.2792A>C (p.Asp931Ala)
c.1094A>C (p.Asp365Ala)
c.911A>C (p.Asp304Ala)
c.3143A>C (p.Asp1048Ala)
c.3095A>C (p.Asp1032Ala)
c.2864A>C (p.Asp955Ala)
c.2765A>C (p.Asp922Ala)
c.1946A>C (p.Asp649Ala)
n.3497A>C
 ClinVar
13g.51942520T=CA2091561631ATP7Bc.*928A= (n.*928A=)
c.*2022A= (n.*2022A=)
c.2657A= (p.Asp886=)
c.3278A= (p.Asp1093=)
c.2945A= (p.Asp982=)
c.3026A= (p.Asp1009=)
c.3044A= (p.Asp1015=)
n.3417A=
n.3641A=
c.2213A= (p.Asp738=)
c.1988A= (p.Asp663=)
c.3083A= (p.Asp1028=)
c.1056A=
c.*379A= (n.*379A=)
n.4022A=
n.2623A=
c.3134A= (p.Asp1045=)
c.3182A= (p.Asp1061=)
c.3242A= (p.Asp1081=)
c.2792A= (p.Asp931=)
c.1094A= (p.Asp365=)
c.911A= (p.Asp304=)
c.3143A= (p.Asp1048=)
c.3095A= (p.Asp1032=)
c.2864A= (p.Asp955=)
c.2765A= (p.Asp922=)
c.1946A= (p.Asp649=)
n.3497A=
13g.51942521C>ACA388028784ATP7Bc.*927G>T (n.*927G>T)
c.*2021G>T (n.*2021G>T)
c.2656G>T (p.Asp886Tyr)
c.3277G>T (p.Asp1093Tyr)
c.2944G>T (p.Asp982Tyr)
c.3025G>T (p.Asp1009Tyr)
c.3043G>T (p.Asp1015Tyr)
n.3416G>T
n.3640G>T
c.2212G>T (p.Asp738Tyr)
c.1987G>T (p.Asp663Tyr)
c.3082G>T (p.Asp1028Tyr)
c.1055G>T
c.*378G>T (n.*378G>T)
n.4021G>T
n.2622G>T
c.3133G>T (p.Asp1045Tyr)
c.3181G>T (p.Asp1061Tyr)
c.3241G>T (p.Asp1081Tyr)
c.2791G>T (p.Asp931Tyr)
c.1093G>T (p.Asp365Tyr)
c.910G>T (p.Asp304Tyr)
c.3142G>T (p.Asp1048Tyr)
c.3094G>T (p.Asp1032Tyr)
c.2863G>T (p.Asp955Tyr)
c.2764G>T (p.Asp922Tyr)
c.1945G>T (p.Asp649Tyr)
n.3496G>T
13g.51942521C>GCA388028787ATP7Bc.*927G>C (n.*927G>C)
c.*2021G>C (n.*2021G>C)
c.2656G>C (p.Asp886His)
c.3277G>C (p.Asp1093His)
c.2944G>C (p.Asp982His)
c.3025G>C (p.Asp1009His)
c.3043G>C (p.Asp1015His)
n.3416G>C
n.3640G>C
c.2212G>C (p.Asp738His)
c.1987G>C (p.Asp663His)
c.3082G>C (p.Asp1028His)
c.1055G>C
c.*378G>C (n.*378G>C)
n.4021G>C
n.2622G>C
c.3133G>C (p.Asp1045His)
c.3181G>C (p.Asp1061His)
c.3241G>C (p.Asp1081His)
c.2791G>C (p.Asp931His)
c.1093G>C (p.Asp365His)
c.910G>C (p.Asp304His)
c.3142G>C (p.Asp1048His)
c.3094G>C (p.Asp1032His)
c.2863G>C (p.Asp955His)
c.2764G>C (p.Asp922His)
c.1945G>C (p.Asp649His)
n.3496G>C
13g.51942521C>TCA388028783ATP7Bc.*927G>A (n.*927G>A)
c.*2021G>A (n.*2021G>A)
c.2656G>A (p.Asp886Asn)
c.3277G>A (p.Asp1093Asn)
c.2944G>A (p.Asp982Asn)
c.3025G>A (p.Asp1009Asn)
c.3043G>A (p.Asp1015Asn)
n.3416G>A
n.3640G>A
c.2212G>A (p.Asp738Asn)
c.1987G>A (p.Asp663Asn)
c.3082G>A (p.Asp1028Asn)
c.1055G>A
c.*378G>A (n.*378G>A)
n.4021G>A
n.2622G>A
c.3133G>A (p.Asp1045Asn)
c.3181G>A (p.Asp1061Asn)
c.3241G>A (p.Asp1081Asn)
c.2791G>A (p.Asp931Asn)
c.1093G>A (p.Asp365Asn)
c.910G>A (p.Asp304Asn)
c.3142G>A (p.Asp1048Asn)
c.3094G>A (p.Asp1032Asn)
c.2863G>A (p.Asp955Asn)
c.2764G>A (p.Asp922Asn)
c.1945G>A (p.Asp649Asn)
n.3496G>A
13g.51942522C>ACA483894499ATP7Bc.*926G>T (n.*926G>T)
c.*2020G>T (n.*2020G>T)
c.2655G>T (p.Thr885=)
c.3276G>T (p.Thr1092=)
c.2943G>T (p.Thr981=)
c.3024G>T (p.Thr1008=)
c.3042G>T (p.Thr1014=)
n.3415G>T
n.3639G>T
c.2211G>T (p.Thr737=)
c.1986G>T (p.Thr662=)
c.3081G>T (p.Thr1027=)
c.1054G>T
c.*377G>T (n.*377G>T)
n.4020G>T
n.2621G>T
c.3132G>T (p.Thr1044=)
c.3180G>T (p.Thr1060=)
c.3240G>T (p.Thr1080=)
c.2790G>T (p.Thr930=)
c.1092G>T (p.Thr364=)
c.909G>T (p.Thr303=)
c.3141G>T (p.Thr1047=)
c.3093G>T (p.Thr1031=)
c.2862G>T (p.Thr954=)
c.2763G>T (p.Thr921=)
c.1944G>T (p.Thr648=)
n.3495G>T
 dbSNP gnomAD v2
13g.51942522C=CA2091561633ATP7Bc.*926G= (n.*926G=)
c.*2020G= (n.*2020G=)
c.2655G= (p.Thr885=)
c.3276G= (p.Thr1092=)
c.2943G= (p.Thr981=)
c.3024G= (p.Thr1008=)
c.3042G= (p.Thr1014=)
n.3415G=
n.3639G=
c.2211G= (p.Thr737=)
c.1986G= (p.Thr662=)
c.3081G= (p.Thr1027=)
c.1054G=
c.*377G= (n.*377G=)
n.4020G=
n.2621G=
c.3132G= (p.Thr1044=)
c.3180G= (p.Thr1060=)
c.3240G= (p.Thr1080=)
c.2790G= (p.Thr930=)
c.1092G= (p.Thr364=)
c.909G= (p.Thr303=)
c.3141G= (p.Thr1047=)
c.3093G= (p.Thr1031=)
c.2862G= (p.Thr954=)
c.2763G= (p.Thr921=)
c.1944G= (p.Thr648=)
n.3495G=
13g.51942522C>GCA483894500ATP7Bc.*926G>C (n.*926G>C)
c.*2020G>C (n.*2020G>C)
c.2655G>C (p.Thr885=)
c.3276G>C (p.Thr1092=)
c.2943G>C (p.Thr981=)
c.3024G>C (p.Thr1008=)
c.3042G>C (p.Thr1014=)
n.3415G>C
n.3639G>C
c.2211G>C (p.Thr737=)
c.1986G>C (p.Thr662=)
c.3081G>C (p.Thr1027=)
c.1054G>C
c.*377G>C (n.*377G>C)
n.4020G>C
n.2621G>C
c.3132G>C (p.Thr1044=)
c.3180G>C (p.Thr1060=)
c.3240G>C (p.Thr1080=)
c.2790G>C (p.Thr930=)
c.1092G>C (p.Thr364=)
c.909G>C (p.Thr303=)
c.3141G>C (p.Thr1047=)
c.3093G>C (p.Thr1031=)
c.2862G>C (p.Thr954=)
c.2763G>C (p.Thr921=)
c.1944G>C (p.Thr648=)
n.3495G>C
13g.51942522C>TCA6988747ATP7Bc.*926G>A (n.*926G>A)
c.*2020G>A (n.*2020G>A)
c.2655G>A (p.Thr885=)
c.3276G>A (p.Thr1092=)
c.2943G>A (p.Thr981=)
c.3024G>A (p.Thr1008=)
c.3042G>A (p.Thr1014=)
n.3415G>A
n.3639G>A
c.2211G>A (p.Thr737=)
c.1986G>A (p.Thr662=)
c.3081G>A (p.Thr1027=)
c.1054G>A
c.*377G>A (n.*377G>A)
n.4020G>A
n.2621G>A
c.3132G>A (p.Thr1044=)
c.3180G>A (p.Thr1060=)
c.3240G>A (p.Thr1080=)
c.2790G>A (p.Thr930=)
c.1092G>A (p.Thr364=)
c.909G>A (p.Thr303=)
c.3141G>A (p.Thr1047=)
c.3093G>A (p.Thr1031=)
c.2862G>A (p.Thr954=)
c.2763G>A (p.Thr921=)
c.1944G>A (p.Thr648=)
n.3495G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51942523G>ACA6988748ATP7Bc.*925C>T (n.*925C>T)
c.*2019C>T (n.*2019C>T)
c.2654C>T (p.Thr885Met)
c.3275C>T (p.Thr1092Met)
c.2942C>T (p.Thr981Met)
c.3023C>T (p.Thr1008Met)
c.3041C>T (p.Thr1014Met)
n.3414C>T
n.3638C>T
c.2210C>T (p.Thr737Met)
c.1985C>T (p.Thr662Met)
c.3080C>T (p.Thr1027Met)
c.1053C>T
c.*376C>T (n.*376C>T)
n.4019C>T
n.2620C>T
c.3131C>T (p.Thr1044Met)
c.3179C>T (p.Thr1060Met)
c.3239C>T (p.Thr1080Met)
c.2789C>T (p.Thr930Met)
c.1091C>T (p.Thr364Met)
c.908C>T (p.Thr303Met)
c.3140C>T (p.Thr1047Met)
c.3092C>T (p.Thr1031Met)
c.2861C>T (p.Thr954Met)
c.2762C>T (p.Thr921Met)
c.1943C>T (p.Thr648Met)
n.3494C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51942523G>CCA388028792ATP7Bc.*925C>G (n.*925C>G)
c.*2019C>G (n.*2019C>G)
c.2654C>G (p.Thr885Arg)
c.3275C>G (p.Thr1092Arg)
c.2942C>G (p.Thr981Arg)
c.3023C>G (p.Thr1008Arg)
c.3041C>G (p.Thr1014Arg)
n.3414C>G
n.3638C>G
c.2210C>G (p.Thr737Arg)
c.1985C>G (p.Thr662Arg)
c.3080C>G (p.Thr1027Arg)
c.1053C>G
c.*376C>G (n.*376C>G)
n.4019C>G
n.2620C>G
c.3131C>G (p.Thr1044Arg)
c.3179C>G (p.Thr1060Arg)
c.3239C>G (p.Thr1080Arg)
c.2789C>G (p.Thr930Arg)
c.1091C>G (p.Thr364Arg)
c.908C>G (p.Thr303Arg)
c.3140C>G (p.Thr1047Arg)
c.3092C>G (p.Thr1031Arg)
c.2861C>G (p.Thr954Arg)
c.2762C>G (p.Thr921Arg)
c.1943C>G (p.Thr648Arg)
n.3494C>G
13g.51942523G=CA2091561642ATP7Bc.*925C= (n.*925C=)
c.*2019C= (n.*2019C=)
c.2654C= (p.Thr885=)
c.3275C= (p.Thr1092=)
c.2942C= (p.Thr981=)
c.3023C= (p.Thr1008=)
c.3041C= (p.Thr1014=)
n.3414C=
n.3638C=
c.2210C= (p.Thr737=)
c.1985C= (p.Thr662=)
c.3080C= (p.Thr1027=)
c.1053C=
c.*376C= (n.*376C=)
n.4019C=
n.2620C=
c.3131C= (p.Thr1044=)
c.3179C= (p.Thr1060=)
c.3239C= (p.Thr1080=)
c.2789C= (p.Thr930=)
c.1091C= (p.Thr364=)
c.908C= (p.Thr303=)
c.3140C= (p.Thr1047=)
c.3092C= (p.Thr1031=)
c.2861C= (p.Thr954=)
c.2762C= (p.Thr921=)
c.1943C= (p.Thr648=)
n.3494C=
13g.51942523G>TCA388028794ATP7Bc.*925C>A (n.*925C>A)
c.*2019C>A (n.*2019C>A)
c.2654C>A (p.Thr885Lys)
c.3275C>A (p.Thr1092Lys)
c.2942C>A (p.Thr981Lys)
c.3023C>A (p.Thr1008Lys)
c.3041C>A (p.Thr1014Lys)
n.3414C>A
n.3638C>A
c.2210C>A (p.Thr737Lys)
c.1985C>A (p.Thr662Lys)
c.3080C>A (p.Thr1027Lys)
c.1053C>A
c.*376C>A (n.*376C>A)
n.4019C>A
n.2620C>A
c.3131C>A (p.Thr1044Lys)
c.3179C>A (p.Thr1060Lys)
c.3239C>A (p.Thr1080Lys)
c.2789C>A (p.Thr930Lys)
c.1091C>A (p.Thr364Lys)
c.908C>A (p.Thr303Lys)
c.3140C>A (p.Thr1047Lys)
c.3092C>A (p.Thr1031Lys)
c.2861C>A (p.Thr954Lys)
c.2762C>A (p.Thr921Lys)
c.1943C>A (p.Thr648Lys)
n.3494C>A
13g.51942524T>ACA388028796ATP7Bc.*924A>T (n.*924A>T)
c.*2018A>T (n.*2018A>T)
c.2653A>T (p.Thr885Ser)
c.3274A>T (p.Thr1092Ser)
c.2941A>T (p.Thr981Ser)
c.3022A>T (p.Thr1008Ser)
c.3040A>T (p.Thr1014Ser)
n.3413A>T
n.3637A>T
c.2209A>T (p.Thr737Ser)
c.1984A>T (p.Thr662Ser)
c.3079A>T (p.Thr1027Ser)
c.1052A>T
c.*375A>T (n.*375A>T)
n.4018A>T
n.2619A>T
c.3130A>T (p.Thr1044Ser)
c.3178A>T (p.Thr1060Ser)
c.3238A>T (p.Thr1080Ser)
c.2788A>T (p.Thr930Ser)
c.1090A>T (p.Thr364Ser)
c.907A>T (p.Thr303Ser)
c.3139A>T (p.Thr1047Ser)
c.3091A>T (p.Thr1031Ser)
c.2860A>T (p.Thr954Ser)
c.2761A>T (p.Thr921Ser)
c.1942A>T (p.Thr648Ser)
n.3493A>T
13g.51942524T>CCA388028799ATP7Bc.*924A>G (n.*924A>G)
c.*2018A>G (n.*2018A>G)
c.2653A>G (p.Thr885Ala)
c.3274A>G (p.Thr1092Ala)
c.2941A>G (p.Thr981Ala)
c.3022A>G (p.Thr1008Ala)
c.3040A>G (p.Thr1014Ala)
n.3413A>G
n.3637A>G
c.2209A>G (p.Thr737Ala)
c.1984A>G (p.Thr662Ala)
c.3079A>G (p.Thr1027Ala)
c.1052A>G
c.*375A>G (n.*375A>G)
n.4018A>G
n.2619A>G
c.3130A>G (p.Thr1044Ala)
c.3178A>G (p.Thr1060Ala)
c.3238A>G (p.Thr1080Ala)
c.2788A>G (p.Thr930Ala)
c.1090A>G (p.Thr364Ala)
c.907A>G (p.Thr303Ala)
c.3139A>G (p.Thr1047Ala)
c.3091A>G (p.Thr1031Ala)
c.2860A>G (p.Thr954Ala)
c.2761A>G (p.Thr921Ala)
c.1942A>G (p.Thr648Ala)
n.3493A>G
 COSMIC
13g.51942524T>GCA388028804ATP7Bc.*924A>C (n.*924A>C)
c.*2018A>C (n.*2018A>C)
c.2653A>C (p.Thr885Pro)
c.3274A>C (p.Thr1092Pro)
c.2941A>C (p.Thr981Pro)
c.3022A>C (p.Thr1008Pro)
c.3040A>C (p.Thr1014Pro)
n.3413A>C
n.3637A>C
c.2209A>C (p.Thr737Pro)
c.1984A>C (p.Thr662Pro)
c.3079A>C (p.Thr1027Pro)
c.1052A>C
c.*375A>C (n.*375A>C)
n.4018A>C
n.2619A>C
c.3130A>C (p.Thr1044Pro)
c.3178A>C (p.Thr1060Pro)
c.3238A>C (p.Thr1080Pro)
c.2788A>C (p.Thr930Pro)
c.1090A>C (p.Thr364Pro)
c.907A>C (p.Thr303Pro)
c.3139A>C (p.Thr1047Pro)
c.3091A>C (p.Thr1031Pro)
c.2860A>C (p.Thr954Pro)
c.2761A>C (p.Thr921Pro)
c.1942A>C (p.Thr648Pro)
n.3493A>C
13g.51942525G>ACA483894501ATP7Bc.*923C>T (n.*923C>T)
c.*2017C>T (n.*2017C>T)
c.2652C>T (p.Cys884=)
c.3273C>T (p.Cys1091=)
c.2940C>T (p.Cys980=)
c.3021C>T (p.Cys1007=)
c.3039C>T (p.Cys1013=)
n.3412C>T
n.3636C>T
c.2208C>T (p.Cys736=)
c.1983C>T (p.Cys661=)
c.3078C>T (p.Cys1026=)
c.1051C>T
c.*374C>T (n.*374C>T)
n.4017C>T
n.2618C>T
c.3129C>T (p.Cys1043=)
c.3177C>T (p.Cys1059=)
c.3237C>T (p.Cys1079=)
c.2787C>T (p.Cys929=)
c.1089C>T (p.Cys363=)
c.906C>T (p.Cys302=)
c.3138C>T (p.Cys1046=)
c.3090C>T (p.Cys1030=)
c.2859C>T (p.Cys953=)
c.2760C>T (p.Cys920=)
c.1941C>T (p.Cys647=)
n.3492C>T
13g.51942525G>CCA388028808ATP7Bc.*923C>G (n.*923C>G)
c.*2017C>G (n.*2017C>G)
c.2652C>G (p.Cys884Trp)
c.3273C>G (p.Cys1091Trp)
c.2940C>G (p.Cys980Trp)
c.3021C>G (p.Cys1007Trp)
c.3039C>G (p.Cys1013Trp)
n.3412C>G
n.3636C>G
c.2208C>G (p.Cys736Trp)
c.1983C>G (p.Cys661Trp)
c.3078C>G (p.Cys1026Trp)
c.1051C>G
c.*374C>G (n.*374C>G)
n.4017C>G
n.2618C>G
c.3129C>G (p.Cys1043Trp)
c.3177C>G (p.Cys1059Trp)
c.3237C>G (p.Cys1079Trp)
c.2787C>G (p.Cys929Trp)
c.1089C>G (p.Cys363Trp)
c.906C>G (p.Cys302Trp)
c.3138C>G (p.Cys1046Trp)
c.3090C>G (p.Cys1030Trp)
c.2859C>G (p.Cys953Trp)
c.2760C>G (p.Cys920Trp)
c.1941C>G (p.Cys647Trp)
n.3492C>G
13g.51942525G>TCA388028809ATP7Bc.*923C>A (n.*923C>A)
c.*2017C>A (n.*2017C>A)
c.2652C>A (p.Cys884Ter)
c.3273C>A (p.Cys1091Ter)
c.2940C>A (p.Cys980Ter)
c.3021C>A (p.Cys1007Ter)
c.3039C>A (p.Cys1013Ter)
n.3412C>A
n.3636C>A
c.2208C>A (p.Cys736Ter)
c.1983C>A (p.Cys661Ter)
c.3078C>A (p.Cys1026Ter)
c.1051C>A
c.*374C>A (n.*374C>A)
n.4017C>A
n.2618C>A
c.3129C>A (p.Cys1043Ter)
c.3177C>A (p.Cys1059Ter)
c.3237C>A (p.Cys1079Ter)
c.2787C>A (p.Cys929Ter)
c.1089C>A (p.Cys363Ter)
c.906C>A (p.Cys302Ter)
c.3138C>A (p.Cys1046Ter)
c.3090C>A (p.Cys1030Ter)
c.2859C>A (p.Cys953Ter)
c.2760C>A (p.Cys920Ter)
c.1941C>A (p.Cys647Ter)
n.3492C>A
13g.51942525_51942526insGGCA2623119930ATP7Bc.*923_*924insCC (n.*923_*924insCC)
c.*2017_*2018insCC (n.*2017_*2018insCC)
c.2652_2653insCC (p.Thr885ProfsTer30)
c.3273_3274insCC (p.Thr1092ProfsTer30)
c.2940_2941insCC (p.Thr981ProfsTer30)
c.3021_3022insCC (p.Thr1008ProfsTer30)
c.3039_3040insCC (p.Thr1014ProfsTer30)
n.3412_3413insCC
n.3636_3637insCC
c.2208_2209insCC (p.Thr737ProfsTer30)
c.1983_1984insCC (p.Thr662ProfsTer30)
c.3078_3079insCC (p.Thr1027ProfsTer30)
c.1051_1052insCC
c.*374_*375insCC (n.*374_*375insCC)
n.4017_4018insCC
n.2618_2619insCC
c.3129_3130insCC (p.Thr1044ProfsTer30)
c.3177_3178insCC (p.Thr1060ProfsTer30)
c.3237_3238insCC (p.Thr1080ProfsTer30)
c.2787_2788insCC (p.Thr930ProfsTer30)
c.1089_1090insCC (p.Thr364ProfsTer30)
c.906_907insCC (p.Thr303ProfsTer30)
c.3138_3139insCC (p.Thr1047ProfsTer30)
c.3090_3091insCC (p.Thr1031ProfsTer30)
c.2859_2860insCC (p.Thr954ProfsTer30)
c.2760_2761insCC (p.Thr921ProfsTer30)
c.1941_1942insCC (p.Thr648ProfsTer30)
n.3492_3493insCC
 gnomAD v4
13g.51942526C>ACA388028819ATP7Bc.*922G>T (n.*922G>T)
c.*2016G>T (n.*2016G>T)
c.2651G>T (p.Cys884Phe)
c.3272G>T (p.Cys1091Phe)
c.2939G>T (p.Cys980Phe)
c.3020G>T (p.Cys1007Phe)
c.3038G>T (p.Cys1013Phe)
n.3411G>T
n.3635G>T
c.2207G>T (p.Cys736Phe)
c.1982G>T (p.Cys661Phe)
c.3077G>T (p.Cys1026Phe)
c.1050G>T
c.*373G>T (n.*373G>T)
n.4016G>T
n.2617G>T
c.3128G>T (p.Cys1043Phe)
c.3176G>T (p.Cys1059Phe)
c.3236G>T (p.Cys1079Phe)
c.2786G>T (p.Cys929Phe)
c.1088G>T (p.Cys363Phe)
c.905G>T (p.Cys302Phe)
c.3137G>T (p.Cys1046Phe)
c.3089G>T (p.Cys1030Phe)
c.2858G>T (p.Cys953Phe)
c.2759G>T (p.Cys920Phe)
c.1940G>T (p.Cys647Phe)
n.3491G>T
 gnomAD v4
13g.51942526C=CA2091561645ATP7Bc.*922G= (n.*922G=)
c.*2016G= (n.*2016G=)
c.2651G= (p.Cys884=)
c.3272G= (p.Cys1091=)
c.2939G= (p.Cys980=)
c.3020G= (p.Cys1007=)
c.3038G= (p.Cys1013=)
n.3411G=
n.3635G=
c.2207G= (p.Cys736=)
c.1982G= (p.Cys661=)
c.3077G= (p.Cys1026=)
c.1050G=
c.*373G= (n.*373G=)
n.4016G=
n.2617G=
c.3128G= (p.Cys1043=)
c.3176G= (p.Cys1059=)
c.3236G= (p.Cys1079=)
c.2786G= (p.Cys929=)
c.1088G= (p.Cys363=)
c.905G= (p.Cys302=)
c.3137G= (p.Cys1046=)
c.3089G= (p.Cys1030=)
c.2858G= (p.Cys953=)
c.2759G= (p.Cys920=)
c.1940G= (p.Cys647=)
n.3491G=
13g.51942526C>GCA388028821ATP7Bc.*922G>C (n.*922G>C)
c.*2016G>C (n.*2016G>C)
c.2651G>C (p.Cys884Ser)
c.3272G>C (p.Cys1091Ser)
c.2939G>C (p.Cys980Ser)
c.3020G>C (p.Cys1007Ser)
c.3038G>C (p.Cys1013Ser)
n.3411G>C
n.3635G>C
c.2207G>C (p.Cys736Ser)
c.1982G>C (p.Cys661Ser)
c.3077G>C (p.Cys1026Ser)
c.1050G>C
c.*373G>C (n.*373G>C)
n.4016G>C
n.2617G>C
c.3128G>C (p.Cys1043Ser)
c.3176G>C (p.Cys1059Ser)
c.3236G>C (p.Cys1079Ser)
c.2786G>C (p.Cys929Ser)
c.1088G>C (p.Cys363Ser)
c.905G>C (p.Cys302Ser)
c.3137G>C (p.Cys1046Ser)
c.3089G>C (p.Cys1030Ser)
c.2858G>C (p.Cys953Ser)
c.2759G>C (p.Cys920Ser)
c.1940G>C (p.Cys647Ser)
n.3491G>C
13g.51942526C>TCA6988749ATP7Bc.*922G>A (n.*922G>A)
c.*2016G>A (n.*2016G>A)
c.2651G>A (p.Cys884Tyr)
c.3272G>A (p.Cys1091Tyr)
c.2939G>A (p.Cys980Tyr)
c.3020G>A (p.Cys1007Tyr)
c.3038G>A (p.Cys1013Tyr)
n.3411G>A
n.3635G>A
c.2207G>A (p.Cys736Tyr)
c.1982G>A (p.Cys661Tyr)
c.3077G>A (p.Cys1026Tyr)
c.1050G>A
c.*373G>A (n.*373G>A)
n.4016G>A
n.2617G>A
c.3128G>A (p.Cys1043Tyr)
c.3176G>A (p.Cys1059Tyr)
c.3236G>A (p.Cys1079Tyr)
c.2786G>A (p.Cys929Tyr)
c.1088G>A (p.Cys363Tyr)
c.905G>A (p.Cys302Tyr)
c.3137G>A (p.Cys1046Tyr)
c.3089G>A (p.Cys1030Tyr)
c.2858G>A (p.Cys953Tyr)
c.2759G>A (p.Cys920Tyr)
c.1940G>A (p.Cys647Tyr)
n.3491G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51942527A>CCA388028829ATP7Bc.*921T>G (n.*921T>G)
c.*2015T>G (n.*2015T>G)
c.2650T>G (p.Cys884Gly)
c.3271T>G (p.Cys1091Gly)
c.2938T>G (p.Cys980Gly)
c.3019T>G (p.Cys1007Gly)
c.3037T>G (p.Cys1013Gly)
n.3410T>G
n.3634T>G
c.2206T>G (p.Cys736Gly)
c.1981T>G (p.Cys661Gly)
c.3076T>G (p.Cys1026Gly)
c.1049T>G
c.*372T>G (n.*372T>G)
n.4015T>G
n.2616T>G
c.3127T>G (p.Cys1043Gly)
c.3175T>G (p.Cys1059Gly)
c.3235T>G (p.Cys1079Gly)
c.2785T>G (p.Cys929Gly)
c.1087T>G (p.Cys363Gly)
c.904T>G (p.Cys302Gly)
c.3136T>G (p.Cys1046Gly)
c.3088T>G (p.Cys1030Gly)
c.2857T>G (p.Cys953Gly)
c.2758T>G (p.Cys920Gly)
c.1939T>G (p.Cys647Gly)
n.3490T>G
13g.51942527A>GCA388028827ATP7Bc.*921T>C (n.*921T>C)
c.*2015T>C (n.*2015T>C)
c.2650T>C (p.Cys884Arg)
c.3271T>C (p.Cys1091Arg)
c.2938T>C (p.Cys980Arg)
c.3019T>C (p.Cys1007Arg)
c.3037T>C (p.Cys1013Arg)
n.3410T>C
n.3634T>C
c.2206T>C (p.Cys736Arg)
c.1981T>C (p.Cys661Arg)
c.3076T>C (p.Cys1026Arg)
c.1049T>C
c.*372T>C (n.*372T>C)
n.4015T>C
n.2616T>C
c.3127T>C (p.Cys1043Arg)
c.3175T>C (p.Cys1059Arg)
c.3235T>C (p.Cys1079Arg)
c.2785T>C (p.Cys929Arg)
c.1087T>C (p.Cys363Arg)
c.904T>C (p.Cys302Arg)
c.3136T>C (p.Cys1046Arg)
c.3088T>C (p.Cys1030Arg)
c.2857T>C (p.Cys953Arg)
c.2758T>C (p.Cys920Arg)
c.1939T>C (p.Cys647Arg)
n.3490T>C
13g.51942527A>TCA388028828ATP7Bc.*921T>A (n.*921T>A)
c.*2015T>A (n.*2015T>A)
c.2650T>A (p.Cys884Ser)
c.3271T>A (p.Cys1091Ser)
c.2938T>A (p.Cys980Ser)
c.3019T>A (p.Cys1007Ser)
c.3037T>A (p.Cys1013Ser)
n.3410T>A
n.3634T>A
c.2206T>A (p.Cys736Ser)
c.1981T>A (p.Cys661Ser)
c.3076T>A (p.Cys1026Ser)
c.1049T>A
c.*372T>A (n.*372T>A)
n.4015T>A
n.2616T>A
c.3127T>A (p.Cys1043Ser)
c.3175T>A (p.Cys1059Ser)
c.3235T>A (p.Cys1079Ser)
c.2785T>A (p.Cys929Ser)
c.1087T>A (p.Cys363Ser)
c.904T>A (p.Cys302Ser)
c.3136T>A (p.Cys1046Ser)
c.3088T>A (p.Cys1030Ser)
c.2857T>A (p.Cys953Ser)
c.2758T>A (p.Cys920Ser)
c.1939T>A (p.Cys647Ser)
n.3490T>A
13g.51942528G>ACA483894503ATP7Bc.*920C>T (n.*920C>T)
c.*2014C>T (n.*2014C>T)
c.2649C>T (p.Tyr883=)
c.3270C>T (p.Tyr1090=)
c.2937C>T (p.Tyr979=)
c.3018C>T (p.Tyr1006=)
c.3036C>T (p.Tyr1012=)
n.3409C>T
n.3633C>T
c.2205C>T (p.Tyr735=)
c.1980C>T (p.Tyr660=)
c.3075C>T (p.Tyr1025=)
c.1048C>T
c.*371C>T (n.*371C>T)
n.4014C>T
n.2615C>T
c.3126C>T (p.Tyr1042=)
c.3174C>T (p.Tyr1058=)
c.3234C>T (p.Tyr1078=)
c.2784C>T (p.Tyr928=)
c.1086C>T (p.Tyr362=)
c.903C>T (p.Tyr301=)
c.3135C>T (p.Tyr1045=)
c.3087C>T (p.Tyr1029=)
c.2856C>T (p.Tyr952=)
c.2757C>T (p.Tyr919=)
c.1938C>T (p.Tyr646=)
n.3489C>T
13g.51942528G>CCA388028837ATP7Bc.*920C>G (n.*920C>G)
c.*2014C>G (n.*2014C>G)
c.2649C>G (p.Tyr883Ter)
c.3270C>G (p.Tyr1090Ter)
c.2937C>G (p.Tyr979Ter)
c.3018C>G (p.Tyr1006Ter)
c.3036C>G (p.Tyr1012Ter)
n.3409C>G
n.3633C>G
c.2205C>G (p.Tyr735Ter)
c.1980C>G (p.Tyr660Ter)
c.3075C>G (p.Tyr1025Ter)
c.1048C>G
c.*371C>G (n.*371C>G)
n.4014C>G
n.2615C>G
c.3126C>G (p.Tyr1042Ter)
c.3174C>G (p.Tyr1058Ter)
c.3234C>G (p.Tyr1078Ter)
c.2784C>G (p.Tyr928Ter)
c.1086C>G (p.Tyr362Ter)
c.903C>G (p.Tyr301Ter)
c.3135C>G (p.Tyr1045Ter)
c.3087C>G (p.Tyr1029Ter)
c.2856C>G (p.Tyr952Ter)
c.2757C>G (p.Tyr919Ter)
c.1938C>G (p.Tyr646Ter)
n.3489C>G
 ClinVar dbSNP
13g.51942528G>TCA388028849ATP7Bc.*920C>A (n.*920C>A)
c.*2014C>A (n.*2014C>A)
c.2649C>A (p.Tyr883Ter)
c.3270C>A (p.Tyr1090Ter)
c.2937C>A (p.Tyr979Ter)
c.3018C>A (p.Tyr1006Ter)
c.3036C>A (p.Tyr1012Ter)
n.3409C>A
n.3633C>A
c.2205C>A (p.Tyr735Ter)
c.1980C>A (p.Tyr660Ter)
c.3075C>A (p.Tyr1025Ter)
c.1048C>A
c.*371C>A (n.*371C>A)
n.4014C>A
n.2615C>A
c.3126C>A (p.Tyr1042Ter)
c.3174C>A (p.Tyr1058Ter)
c.3234C>A (p.Tyr1078Ter)
c.2784C>A (p.Tyr928Ter)
c.1086C>A (p.Tyr362Ter)
c.903C>A (p.Tyr301Ter)
c.3135C>A (p.Tyr1045Ter)
c.3087C>A (p.Tyr1029Ter)
c.2856C>A (p.Tyr952Ter)
c.2757C>A (p.Tyr919Ter)
c.1938C>A (p.Tyr646Ter)
n.3489C>A
13g.51942529T>ACA388028851ATP7Bc.*919A>T (n.*919A>T)
c.*2013A>T (n.*2013A>T)
c.2648A>T (p.Tyr883Phe)
c.3269A>T (p.Tyr1090Phe)
c.2936A>T (p.Tyr979Phe)
c.3017A>T (p.Tyr1006Phe)
c.3035A>T (p.Tyr1012Phe)
n.3408A>T
n.3632A>T
c.2204A>T (p.Tyr735Phe)
c.1979A>T (p.Tyr660Phe)
c.3074A>T (p.Tyr1025Phe)
c.1047A>T
c.*370A>T (n.*370A>T)
n.4013A>T
n.2614A>T
c.3125A>T (p.Tyr1042Phe)
c.3173A>T (p.Tyr1058Phe)
c.3233A>T (p.Tyr1078Phe)
c.2783A>T (p.Tyr928Phe)
c.1085A>T (p.Tyr362Phe)
c.902A>T (p.Tyr301Phe)
c.3134A>T (p.Tyr1045Phe)
c.3086A>T (p.Tyr1029Phe)
c.2855A>T (p.Tyr952Phe)
c.2756A>T (p.Tyr919Phe)
c.1937A>T (p.Tyr646Phe)
n.3488A>T
13g.51942529T>CCA388028852ATP7Bc.*919A>G (n.*919A>G)
c.*2013A>G (n.*2013A>G)
c.2648A>G (p.Tyr883Cys)
c.3269A>G (p.Tyr1090Cys)
c.2936A>G (p.Tyr979Cys)
c.3017A>G (p.Tyr1006Cys)
c.3035A>G (p.Tyr1012Cys)
n.3408A>G
n.3632A>G
c.2204A>G (p.Tyr735Cys)
c.1979A>G (p.Tyr660Cys)
c.3074A>G (p.Tyr1025Cys)
c.1047A>G
c.*370A>G (n.*370A>G)
n.4013A>G
n.2614A>G
c.3125A>G (p.Tyr1042Cys)
c.3173A>G (p.Tyr1058Cys)
c.3233A>G (p.Tyr1078Cys)
c.2783A>G (p.Tyr928Cys)
c.1085A>G (p.Tyr362Cys)
c.902A>G (p.Tyr301Cys)
c.3134A>G (p.Tyr1045Cys)
c.3086A>G (p.Tyr1029Cys)
c.2855A>G (p.Tyr952Cys)
c.2756A>G (p.Tyr919Cys)
c.1937A>G (p.Tyr646Cys)
n.3488A>G
13g.51942529T>GCA388028854ATP7Bc.*919A>C (n.*919A>C)
c.*2013A>C (n.*2013A>C)
c.2648A>C (p.Tyr883Ser)
c.3269A>C (p.Tyr1090Ser)
c.2936A>C (p.Tyr979Ser)
c.3017A>C (p.Tyr1006Ser)
c.3035A>C (p.Tyr1012Ser)
n.3408A>C
n.3632A>C
c.2204A>C (p.Tyr735Ser)
c.1979A>C (p.Tyr660Ser)
c.3074A>C (p.Tyr1025Ser)
c.1047A>C
c.*370A>C (n.*370A>C)
n.4013A>C
n.2614A>C
c.3125A>C (p.Tyr1042Ser)
c.3173A>C (p.Tyr1058Ser)
c.3233A>C (p.Tyr1078Ser)
c.2783A>C (p.Tyr928Ser)
c.1085A>C (p.Tyr362Ser)
c.902A>C (p.Tyr301Ser)
c.3134A>C (p.Tyr1045Ser)
c.3086A>C (p.Tyr1029Ser)
c.2855A>C (p.Tyr952Ser)
c.2756A>C (p.Tyr919Ser)
c.1937A>C (p.Tyr646Ser)
n.3488A>C
13g.51942530A>CCA388028857ATP7Bc.*918T>G (n.*918T>G)
c.*2012T>G (n.*2012T>G)
c.2647T>G (p.Tyr883Asp)
c.3268T>G (p.Tyr1090Asp)
c.2935T>G (p.Tyr979Asp)
c.3016T>G (p.Tyr1006Asp)
c.3034T>G (p.Tyr1012Asp)
n.3407T>G
n.3631T>G
c.2203T>G (p.Tyr735Asp)
c.1978T>G (p.Tyr660Asp)
c.3073T>G (p.Tyr1025Asp)
c.1046T>G
c.*369T>G (n.*369T>G)
n.4012T>G
n.2613T>G
c.3124T>G (p.Tyr1042Asp)
c.3172T>G (p.Tyr1058Asp)
c.3232T>G (p.Tyr1078Asp)
c.2782T>G (p.Tyr928Asp)
c.1084T>G (p.Tyr362Asp)
c.901T>G (p.Tyr301Asp)
c.3133T>G (p.Tyr1045Asp)
c.3085T>G (p.Tyr1029Asp)
c.2854T>G (p.Tyr952Asp)
c.2755T>G (p.Tyr919Asp)
c.1936T>G (p.Tyr646Asp)
n.3487T>G
13g.51942530A>GCA388028859ATP7Bc.*918T>C (n.*918T>C)
c.*2012T>C (n.*2012T>C)
c.2647T>C (p.Tyr883His)
c.3268T>C (p.Tyr1090His)
c.2935T>C (p.Tyr979His)
c.3016T>C (p.Tyr1006His)
c.3034T>C (p.Tyr1012His)
n.3407T>C
n.3631T>C
c.2203T>C (p.Tyr735His)
c.1978T>C (p.Tyr660His)
c.3073T>C (p.Tyr1025His)
c.1046T>C
c.*369T>C (n.*369T>C)
n.4012T>C
n.2613T>C
c.3124T>C (p.Tyr1042His)
c.3172T>C (p.Tyr1058His)
c.3232T>C (p.Tyr1078His)
c.2782T>C (p.Tyr928His)
c.1084T>C (p.Tyr362His)
c.901T>C (p.Tyr301His)
c.3133T>C (p.Tyr1045His)
c.3085T>C (p.Tyr1029His)
c.2854T>C (p.Tyr952His)
c.2755T>C (p.Tyr919His)
c.1936T>C (p.Tyr646His)
n.3487T>C
13g.51942530A>TCA388028864ATP7Bc.*918T>A (n.*918T>A)
c.*2012T>A (n.*2012T>A)
c.2647T>A (p.Tyr883Asn)
c.3268T>A (p.Tyr1090Asn)
c.2935T>A (p.Tyr979Asn)
c.3016T>A (p.Tyr1006Asn)
c.3034T>A (p.Tyr1012Asn)
n.3407T>A
n.3631T>A
c.2203T>A (p.Tyr735Asn)
c.1978T>A (p.Tyr660Asn)
c.3073T>A (p.Tyr1025Asn)
c.1046T>A
c.*369T>A (n.*369T>A)
n.4012T>A
n.2613T>A
c.3124T>A (p.Tyr1042Asn)
c.3172T>A (p.Tyr1058Asn)
c.3232T>A (p.Tyr1078Asn)
c.2782T>A (p.Tyr928Asn)
c.1084T>A (p.Tyr362Asn)
c.901T>A (p.Tyr301Asn)
c.3133T>A (p.Tyr1045Asn)
c.3085T>A (p.Tyr1029Asn)
c.2854T>A (p.Tyr952Asn)
c.2755T>A (p.Tyr919Asn)
c.1936T>A (p.Tyr646Asn)
n.3487T>A
13g.51942531T>ACA483894506ATP7Bc.*917A>T (n.*917A>T)
c.*2011A>T (n.*2011A>T)
c.2646A>T (p.Gly882=)
c.3267A>T (p.Gly1089=)
c.2934A>T (p.Gly978=)
c.3015A>T (p.Gly1005=)
c.3033A>T (p.Gly1011=)
n.3406A>T
n.3630A>T
c.2202A>T (p.Gly734=)
c.1977A>T (p.Gly659=)
c.3072A>T (p.Gly1024=)
c.1045A>T
c.*368A>T (n.*368A>T)
n.4011A>T
n.2612A>T
c.3123A>T (p.Gly1041=)
c.3171A>T (p.Gly1057=)
c.3231A>T (p.Gly1077=)
c.2781A>T (p.Gly927=)
c.1083A>T (p.Gly361=)
c.900A>T (p.Gly300=)
c.3132A>T (p.Gly1044=)
c.3084A>T (p.Gly1028=)
c.2853A>T (p.Gly951=)
c.2754A>T (p.Gly918=)
c.1935A>T (p.Gly645=)
n.3486A>T
13g.51942531T>CCA483894507ATP7Bc.*917A>G (n.*917A>G)
c.*2011A>G (n.*2011A>G)
c.2646A>G (p.Gly882=)
c.3267A>G (p.Gly1089=)
c.2934A>G (p.Gly978=)
c.3015A>G (p.Gly1005=)
c.3033A>G (p.Gly1011=)
n.3406A>G
n.3630A>G
c.2202A>G (p.Gly734=)
c.1977A>G (p.Gly659=)
c.3072A>G (p.Gly1024=)
c.1045A>G
c.*368A>G (n.*368A>G)
n.4011A>G
n.2612A>G
c.3123A>G (p.Gly1041=)
c.3171A>G (p.Gly1057=)
c.3231A>G (p.Gly1077=)
c.2781A>G (p.Gly927=)
c.1083A>G (p.Gly361=)
c.900A>G (p.Gly300=)
c.3132A>G (p.Gly1044=)
c.3084A>G (p.Gly1028=)
c.2853A>G (p.Gly951=)
c.2754A>G (p.Gly918=)
c.1935A>G (p.Gly645=)
n.3486A>G
 gnomAD v4
13g.51942531T>GCA483894508ATP7Bc.*917A>C (n.*917A>C)
c.*2011A>C (n.*2011A>C)
c.2646A>C (p.Gly882=)
c.3267A>C (p.Gly1089=)
c.2934A>C (p.Gly978=)
c.3015A>C (p.Gly1005=)
c.3033A>C (p.Gly1011=)
n.3406A>C
n.3630A>C
c.2202A>C (p.Gly734=)
c.1977A>C (p.Gly659=)
c.3072A>C (p.Gly1024=)
c.1045A>C
c.*368A>C (n.*368A>C)
n.4011A>C
n.2612A>C
c.3123A>C (p.Gly1041=)
c.3171A>C (p.Gly1057=)
c.3231A>C (p.Gly1077=)
c.2781A>C (p.Gly927=)
c.1083A>C (p.Gly361=)
c.900A>C (p.Gly300=)
c.3132A>C (p.Gly1044=)
c.3084A>C (p.Gly1028=)
c.2853A>C (p.Gly951=)
c.2754A>C (p.Gly918=)
c.1935A>C (p.Gly645=)
n.3486A>C
13g.51942532C>ACA388028867ATP7Bc.*916G>T (n.*916G>T)
c.*2010G>T (n.*2010G>T)
c.2645G>T (p.Gly882Val)
c.3266G>T (p.Gly1089Val)
c.2933G>T (p.Gly978Val)
c.3014G>T (p.Gly1005Val)
c.3032G>T (p.Gly1011Val)
n.3405G>T
n.3629G>T
c.2201G>T (p.Gly734Val)
c.1976G>T (p.Gly659Val)
c.3071G>T (p.Gly1024Val)
c.1044G>T
c.*367G>T (n.*367G>T)
n.4010G>T
n.2611G>T
c.3122G>T (p.Gly1041Val)
c.3170G>T (p.Gly1057Val)
c.3230G>T (p.Gly1077Val)
c.2780G>T (p.Gly927Val)
c.1082G>T (p.Gly361Val)
c.899G>T (p.Gly300Val)
c.3131G>T (p.Gly1044Val)
c.3083G>T (p.Gly1028Val)
c.2852G>T (p.Gly951Val)
c.2753G>T (p.Gly918Val)
c.1934G>T (p.Gly645Val)
n.3485G>T
 ClinVar
13g.51942532C=CA2091561649ATP7Bc.*916G= (n.*916G=)
c.*2010G= (n.*2010G=)
c.2645G= (p.Gly882=)
c.3266G= (p.Gly1089=)
c.2933G= (p.Gly978=)
c.3014G= (p.Gly1005=)
c.3032G= (p.Gly1011=)
n.3405G=
n.3629G=
c.2201G= (p.Gly734=)
c.1976G= (p.Gly659=)
c.3071G= (p.Gly1024=)
c.1044G=
c.*367G= (n.*367G=)
n.4010G=
n.2611G=
c.3122G= (p.Gly1041=)
c.3170G= (p.Gly1057=)
c.3230G= (p.Gly1077=)
c.2780G= (p.Gly927=)
c.1082G= (p.Gly361=)
c.899G= (p.Gly300=)
c.3131G= (p.Gly1044=)
c.3083G= (p.Gly1028=)
c.2852G= (p.Gly951=)
c.2753G= (p.Gly918=)
c.1934G= (p.Gly645=)
n.3485G=
13g.51942532C>GCA388028868ATP7Bc.*916G>C (n.*916G>C)
c.*2010G>C (n.*2010G>C)
c.2645G>C (p.Gly882Ala)
c.3266G>C (p.Gly1089Ala)
c.2933G>C (p.Gly978Ala)
c.3014G>C (p.Gly1005Ala)
c.3032G>C (p.Gly1011Ala)
n.3405G>C
n.3629G>C
c.2201G>C (p.Gly734Ala)
c.1976G>C (p.Gly659Ala)
c.3071G>C (p.Gly1024Ala)
c.1044G>C
c.*367G>C (n.*367G>C)
n.4010G>C
n.2611G>C
c.3122G>C (p.Gly1041Ala)
c.3170G>C (p.Gly1057Ala)
c.3230G>C (p.Gly1077Ala)
c.2780G>C (p.Gly927Ala)
c.1082G>C (p.Gly361Ala)
c.899G>C (p.Gly300Ala)
c.3131G>C (p.Gly1044Ala)
c.3083G>C (p.Gly1028Ala)
c.2852G>C (p.Gly951Ala)
c.2753G>C (p.Gly918Ala)
c.1934G>C (p.Gly645Ala)
n.3485G>C
13g.51942532C>TCA388028869ATP7Bc.*916G>A (n.*916G>A)
c.*2010G>A (n.*2010G>A)
c.2645G>A (p.Gly882Glu)
c.3266G>A (p.Gly1089Glu)
c.2933G>A (p.Gly978Glu)
c.3014G>A (p.Gly1005Glu)
c.3032G>A (p.Gly1011Glu)
n.3405G>A
n.3629G>A
c.2201G>A (p.Gly734Glu)
c.1976G>A (p.Gly659Glu)
c.3071G>A (p.Gly1024Glu)
c.1044G>A
c.*367G>A (n.*367G>A)
n.4010G>A
n.2611G>A
c.3122G>A (p.Gly1041Glu)
c.3170G>A (p.Gly1057Glu)
c.3230G>A (p.Gly1077Glu)
c.2780G>A (p.Gly927Glu)
c.1082G>A (p.Gly361Glu)
c.899G>A (p.Gly300Glu)
c.3131G>A (p.Gly1044Glu)
c.3083G>A (p.Gly1028Glu)
c.2852G>A (p.Gly951Glu)
c.2753G>A (p.Gly918Glu)
c.1934G>A (p.Gly645Glu)
n.3485G>A
 ClinVar dbSNP
13g.51942533C>ACA388028872ATP7Bc.*915G>T (n.*915G>T)
c.*2009G>T (n.*2009G>T)
c.2644G>T (p.Gly882Ter)
c.3265G>T (p.Gly1089Ter)
c.2932G>T (p.Gly978Ter)
c.3013G>T (p.Gly1005Ter)
c.3031G>T (p.Gly1011Ter)
n.3404G>T
n.3628G>T
c.2200G>T (p.Gly734Ter)
c.1975G>T (p.Gly659Ter)
c.3070G>T (p.Gly1024Ter)
c.1043G>T
c.*366G>T (n.*366G>T)
n.4009G>T
n.2610G>T
c.3121G>T (p.Gly1041Ter)
c.3169G>T (p.Gly1057Ter)
c.3229G>T (p.Gly1077Ter)
c.2779G>T (p.Gly927Ter)
c.1081G>T (p.Gly361Ter)
c.898G>T (p.Gly300Ter)
c.3130G>T (p.Gly1044Ter)
c.3082G>T (p.Gly1028Ter)
c.2851G>T (p.Gly951Ter)
c.2752G>T (p.Gly918Ter)
c.1933G>T (p.Gly645Ter)
n.3484G>T
 ClinVar
13g.51942533C=CA2091561650ATP7Bc.*915G= (n.*915G=)
c.*2009G= (n.*2009G=)
c.2644G= (p.Gly882=)
c.3265G= (p.Gly1089=)
c.2932G= (p.Gly978=)
c.3013G= (p.Gly1005=)
c.3031G= (p.Gly1011=)
n.3404G=
n.3628G=
c.2200G= (p.Gly734=)
c.1975G= (p.Gly659=)
c.3070G= (p.Gly1024=)
c.1043G=
c.*366G= (n.*366G=)
n.4009G=
n.2610G=
c.3121G= (p.Gly1041=)
c.3169G= (p.Gly1057=)
c.3229G= (p.Gly1077=)
c.2779G= (p.Gly927=)
c.1081G= (p.Gly361=)
c.898G= (p.Gly300=)
c.3130G= (p.Gly1044=)
c.3082G= (p.Gly1028=)
c.2851G= (p.Gly951=)
c.2752G= (p.Gly918=)
c.1933G= (p.Gly645=)
n.3484G=
13g.51942533C>GCA388028873ATP7Bc.*915G>C (n.*915G>C)
c.*2009G>C (n.*2009G>C)
c.2644G>C (p.Gly882Arg)
c.3265G>C (p.Gly1089Arg)
c.2932G>C (p.Gly978Arg)
c.3013G>C (p.Gly1005Arg)
c.3031G>C (p.Gly1011Arg)
n.3404G>C
n.3628G>C
c.2200G>C (p.Gly734Arg)
c.1975G>C (p.Gly659Arg)
c.3070G>C (p.Gly1024Arg)
c.1043G>C
c.*366G>C (n.*366G>C)
n.4009G>C
n.2610G>C
c.3121G>C (p.Gly1041Arg)
c.3169G>C (p.Gly1057Arg)
c.3229G>C (p.Gly1077Arg)
c.2779G>C (p.Gly927Arg)
c.1081G>C (p.Gly361Arg)
c.898G>C (p.Gly300Arg)
c.3130G>C (p.Gly1044Arg)
c.3082G>C (p.Gly1028Arg)
c.2851G>C (p.Gly951Arg)
c.2752G>C (p.Gly918Arg)
c.1933G>C (p.Gly645Arg)
n.3484G>C
13g.51942533C>TCA388028870ATP7Bc.*915G>A (n.*915G>A)
c.*2009G>A (n.*2009G>A)
c.2644G>A (p.Gly882Arg)
c.3265G>A (p.Gly1089Arg)
c.2932G>A (p.Gly978Arg)
c.3013G>A (p.Gly1005Arg)
c.3031G>A (p.Gly1011Arg)
n.3404G>A
n.3628G>A
c.2200G>A (p.Gly734Arg)
c.1975G>A (p.Gly659Arg)
c.3070G>A (p.Gly1024Arg)
c.1043G>A
c.*366G>A (n.*366G>A)
n.4009G>A
n.2610G>A
c.3121G>A (p.Gly1041Arg)
c.3169G>A (p.Gly1057Arg)
c.3229G>A (p.Gly1077Arg)
c.2779G>A (p.Gly927Arg)
c.1081G>A (p.Gly361Arg)
c.898G>A (p.Gly300Arg)
c.3130G>A (p.Gly1044Arg)
c.3082G>A (p.Gly1028Arg)
c.2851G>A (p.Gly951Arg)
c.2752G>A (p.Gly918Arg)
c.1933G>A (p.Gly645Arg)
n.3484G>A
 dbSNP gnomAD v4
13g.51942534C>ACA388028878ATP7Bc.*914G>T (n.*914G>T)
c.*2008G>T (n.*2008G>T)
c.2643G>T (p.Leu881Phe)
c.3264G>T (p.Leu1088Phe)
c.2931G>T (p.Leu977Phe)
c.3012G>T (p.Leu1004Phe)
c.3030G>T (p.Leu1010Phe)
n.3403G>T
n.3627G>T
c.2199G>T (p.Leu733Phe)
c.1974G>T (p.Leu658Phe)
c.3069G>T (p.Leu1023Phe)
c.1042G>T
c.*365G>T (n.*365G>T)
n.4008G>T
n.2609G>T
c.3120G>T (p.Leu1040Phe)
c.3168G>T (p.Leu1056Phe)
c.3228G>T (p.Leu1076Phe)
c.2778G>T (p.Leu926Phe)
c.1080G>T (p.Leu360Phe)
c.897G>T (p.Leu299Phe)
c.3129G>T (p.Leu1043Phe)
c.3081G>T (p.Leu1027Phe)
c.2850G>T (p.Leu950Phe)
c.2751G>T (p.Leu917Phe)
c.1932G>T (p.Leu644Phe)
n.3483G>T
13g.51942534C=CA2091561655ATP7Bc.*914G= (n.*914G=)
c.*2008G= (n.*2008G=)
c.2643G= (p.Leu881=)
c.3264G= (p.Leu1088=)
c.2931G= (p.Leu977=)
c.3012G= (p.Leu1004=)
c.3030G= (p.Leu1010=)
n.3403G=
n.3627G=
c.2199G= (p.Leu733=)
c.1974G= (p.Leu658=)
c.3069G= (p.Leu1023=)
c.1042G=
c.*365G= (n.*365G=)
n.4008G=
n.2609G=
c.3120G= (p.Leu1040=)
c.3168G= (p.Leu1056=)
c.3228G= (p.Leu1076=)
c.2778G= (p.Leu926=)
c.1080G= (p.Leu360=)
c.897G= (p.Leu299=)
c.3129G= (p.Leu1043=)
c.3081G= (p.Leu1027=)
c.2850G= (p.Leu950=)
c.2751G= (p.Leu917=)
c.1932G= (p.Leu644=)
n.3483G=
13g.51942534C>GCA388028875ATP7Bc.*914G>C (n.*914G>C)
c.*2008G>C (n.*2008G>C)
c.2643G>C (p.Leu881Phe)
c.3264G>C (p.Leu1088Phe)
c.2931G>C (p.Leu977Phe)
c.3012G>C (p.Leu1004Phe)
c.3030G>C (p.Leu1010Phe)
n.3403G>C
n.3627G>C
c.2199G>C (p.Leu733Phe)
c.1974G>C (p.Leu658Phe)
c.3069G>C (p.Leu1023Phe)
c.1042G>C
c.*365G>C (n.*365G>C)
n.4008G>C
n.2609G>C
c.3120G>C (p.Leu1040Phe)
c.3168G>C (p.Leu1056Phe)
c.3228G>C (p.Leu1076Phe)
c.2778G>C (p.Leu926Phe)
c.1080G>C (p.Leu360Phe)
c.897G>C (p.Leu299Phe)
c.3129G>C (p.Leu1043Phe)
c.3081G>C (p.Leu1027Phe)
c.2850G>C (p.Leu950Phe)
c.2751G>C (p.Leu917Phe)
c.1932G>C (p.Leu644Phe)
n.3483G>C
 dbSNP gnomAD v3 gnomAD v4
13g.51942534C>TCA483894512ATP7Bc.*914G>A (n.*914G>A)
c.*2008G>A (n.*2008G>A)
c.2643G>A (p.Leu881=)
c.3264G>A (p.Leu1088=)
c.2931G>A (p.Leu977=)
c.3012G>A (p.Leu1004=)
c.3030G>A (p.Leu1010=)
n.3403G>A
n.3627G>A
c.2199G>A (p.Leu733=)
c.1974G>A (p.Leu658=)
c.3069G>A (p.Leu1023=)
c.1042G>A
c.*365G>A (n.*365G>A)
n.4008G>A
n.2609G>A
c.3120G>A (p.Leu1040=)
c.3168G>A (p.Leu1056=)
c.3228G>A (p.Leu1076=)
c.2778G>A (p.Leu926=)
c.1080G>A (p.Leu360=)
c.897G>A (p.Leu299=)
c.3129G>A (p.Leu1043=)
c.3081G>A (p.Leu1027=)
c.2850G>A (p.Leu950=)
c.2751G>A (p.Leu917=)
c.1932G>A (p.Leu644=)
n.3483G>A
13g.51942535A=CA2091561658ATP7Bc.*913T= (n.*913T=)
c.*2007T= (n.*2007T=)
c.2642T= (p.Leu881=)
c.3263T= (p.Leu1088=)
c.2930T= (p.Leu977=)
c.3011T= (p.Leu1004=)
c.3029T= (p.Leu1010=)
n.3402T=
n.3626T=
c.2198T= (p.Leu733=)
c.1973T= (p.Leu658=)
c.3068T= (p.Leu1023=)
c.1041T=
c.*364T= (n.*364T=)
n.4007T=
n.2608T=
c.3119T= (p.Leu1040=)
c.3167T= (p.Leu1056=)
c.3227T= (p.Leu1076=)
c.2777T= (p.Leu926=)
c.1079T= (p.Leu360=)
c.896T= (p.Leu299=)
c.3128T= (p.Leu1043=)
c.3080T= (p.Leu1027=)
c.2849T= (p.Leu950=)
c.2750T= (p.Leu917=)
c.1931T= (p.Leu644=)
n.3482T=
13g.51942535A>CCA388028883ATP7Bc.*913T>G (n.*913T>G)
c.*2007T>G (n.*2007T>G)
c.2642T>G (p.Leu881Trp)
c.3263T>G (p.Leu1088Trp)
c.2930T>G (p.Leu977Trp)
c.3011T>G (p.Leu1004Trp)
c.3029T>G (p.Leu1010Trp)
n.3402T>G
n.3626T>G
c.2198T>G (p.Leu733Trp)
c.1973T>G (p.Leu658Trp)
c.3068T>G (p.Leu1023Trp)
c.1041T>G
c.*364T>G (n.*364T>G)
n.4007T>G
n.2608T>G
c.3119T>G (p.Leu1040Trp)
c.3167T>G (p.Leu1056Trp)
c.3227T>G (p.Leu1076Trp)
c.2777T>G (p.Leu926Trp)
c.1079T>G (p.Leu360Trp)
c.896T>G (p.Leu299Trp)
c.3128T>G (p.Leu1043Trp)
c.3080T>G (p.Leu1027Trp)
c.2849T>G (p.Leu950Trp)
c.2750T>G (p.Leu917Trp)
c.1931T>G (p.Leu644Trp)
n.3482T>G
 gnomAD v4
13g.51942535A>GCA388028886ATP7Bc.*913T>C (n.*913T>C)
c.*2007T>C (n.*2007T>C)
c.2642T>C (p.Leu881Ser)
c.3263T>C (p.Leu1088Ser)
c.2930T>C (p.Leu977Ser)
c.3011T>C (p.Leu1004Ser)
c.3029T>C (p.Leu1010Ser)
n.3402T>C
n.3626T>C
c.2198T>C (p.Leu733Ser)
c.1973T>C (p.Leu658Ser)
c.3068T>C (p.Leu1023Ser)
c.1041T>C
c.*364T>C (n.*364T>C)
n.4007T>C
n.2608T>C
c.3119T>C (p.Leu1040Ser)
c.3167T>C (p.Leu1056Ser)
c.3227T>C (p.Leu1076Ser)
c.2777T>C (p.Leu926Ser)
c.1079T>C (p.Leu360Ser)
c.896T>C (p.Leu299Ser)
c.3128T>C (p.Leu1043Ser)
c.3080T>C (p.Leu1027Ser)
c.2849T>C (p.Leu950Ser)
c.2750T>C (p.Leu917Ser)
c.1931T>C (p.Leu644Ser)
n.3482T>C
13g.51942535A>TCA274082ATP7Bc.*913T>A (n.*913T>A)
c.*2007T>A (n.*2007T>A)
c.2642T>A (p.Leu881Ter)
c.3263T>A (p.Leu1088Ter)
c.2930T>A (p.Leu977Ter)
c.3011T>A (p.Leu1004Ter)
c.3029T>A (p.Leu1010Ter)
n.3402T>A
n.3626T>A
c.2198T>A (p.Leu733Ter)
c.1973T>A (p.Leu658Ter)
c.3068T>A (p.Leu1023Ter)
c.1041T>A
c.*364T>A (n.*364T>A)
n.4007T>A
n.2608T>A
c.3119T>A (p.Leu1040Ter)
c.3167T>A (p.Leu1056Ter)
c.3227T>A (p.Leu1076Ter)
c.2777T>A (p.Leu926Ter)
c.1079T>A (p.Leu360Ter)
c.896T>A (p.Leu299Ter)
c.3128T>A (p.Leu1043Ter)
c.3080T>A (p.Leu1027Ter)
c.2849T>A (p.Leu950Ter)
c.2750T>A (p.Leu917Ter)
c.1931T>A (p.Leu644Ter)
n.3482T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51942536A=CA2091561662ATP7Bc.*912T= (n.*912T=)
c.*2006T= (n.*2006T=)
c.2641T= (p.Leu881=)
c.3262T= (p.Leu1088=)
c.2929T= (p.Leu977=)
c.3010T= (p.Leu1004=)
c.3028T= (p.Leu1010=)
n.3401T=
n.3625T=
c.2197T= (p.Leu733=)
c.1972T= (p.Leu658=)
c.3067T= (p.Leu1023=)
c.1040T=
c.*363T= (n.*363T=)
n.4006T=
n.2607T=
c.3118T= (p.Leu1040=)
c.3166T= (p.Leu1056=)
c.3226T= (p.Leu1076=)
c.2776T= (p.Leu926=)
c.1078T= (p.Leu360=)
c.895T= (p.Leu299=)
c.3127T= (p.Leu1043=)
c.3079T= (p.Leu1027=)
c.2848T= (p.Leu950=)
c.2749T= (p.Leu917=)
c.1930T= (p.Leu644=)
n.3481T=
13g.51942536A>CCA388028889ATP7Bc.*912T>G (n.*912T>G)
c.*2006T>G (n.*2006T>G)
c.2641T>G (p.Leu881Val)
c.3262T>G (p.Leu1088Val)
c.2929T>G (p.Leu977Val)
c.3010T>G (p.Leu1004Val)
c.3028T>G (p.Leu1010Val)
n.3401T>G
n.3625T>G
c.2197T>G (p.Leu733Val)
c.1972T>G (p.Leu658Val)
c.3067T>G (p.Leu1023Val)
c.1040T>G
c.*363T>G (n.*363T>G)
n.4006T>G
n.2607T>G
c.3118T>G (p.Leu1040Val)
c.3166T>G (p.Leu1056Val)
c.3226T>G (p.Leu1076Val)
c.2776T>G (p.Leu926Val)
c.1078T>G (p.Leu360Val)
c.895T>G (p.Leu299Val)
c.3127T>G (p.Leu1043Val)
c.3079T>G (p.Leu1027Val)
c.2848T>G (p.Leu950Val)
c.2749T>G (p.Leu917Val)
c.1930T>G (p.Leu644Val)
n.3481T>G
13g.51942536A>GCA483894513ATP7Bc.*912T>C (n.*912T>C)
c.*2006T>C (n.*2006T>C)
c.2641T>C (p.Leu881=)
c.3262T>C (p.Leu1088=)
c.2929T>C (p.Leu977=)
c.3010T>C (p.Leu1004=)
c.3028T>C (p.Leu1010=)
n.3401T>C
n.3625T>C
c.2197T>C (p.Leu733=)
c.1972T>C (p.Leu658=)
c.3067T>C (p.Leu1023=)
c.1040T>C
c.*363T>C (n.*363T>C)
n.4006T>C
n.2607T>C
c.3118T>C (p.Leu1040=)
c.3166T>C (p.Leu1056=)
c.3226T>C (p.Leu1076=)
c.2776T>C (p.Leu926=)
c.1078T>C (p.Leu360=)
c.895T>C (p.Leu299=)
c.3127T>C (p.Leu1043=)
c.3079T>C (p.Leu1027=)
c.2848T>C (p.Leu950=)
c.2749T>C (p.Leu917=)
c.1930T>C (p.Leu644=)
n.3481T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51942536A>TCA388028890ATP7Bc.*912T>A (n.*912T>A)
c.*2006T>A (n.*2006T>A)
c.2641T>A (p.Leu881Met)
c.3262T>A (p.Leu1088Met)
c.2929T>A (p.Leu977Met)
c.3010T>A (p.Leu1004Met)
c.3028T>A (p.Leu1010Met)
n.3401T>A
n.3625T>A
c.2197T>A (p.Leu733Met)
c.1972T>A (p.Leu658Met)
c.3067T>A (p.Leu1023Met)
c.1040T>A
c.*363T>A (n.*363T>A)
n.4006T>A
n.2607T>A
c.3118T>A (p.Leu1040Met)
c.3166T>A (p.Leu1056Met)
c.3226T>A (p.Leu1076Met)
c.2776T>A (p.Leu926Met)
c.1078T>A (p.Leu360Met)
c.895T>A (p.Leu299Met)
c.3127T>A (p.Leu1043Met)
c.3079T>A (p.Leu1027Met)
c.2848T>A (p.Leu950Met)
c.2749T>A (p.Leu917Met)
c.1930T>A (p.Leu644Met)
n.3481T>A
13g.51942537G>ACA483894514ATP7Bc.*911C>T (n.*911C>T)
c.*2005C>T (n.*2005C>T)
c.2640C>T (p.Thr880=)
c.3261C>T (p.Thr1087=)
c.2928C>T (p.Thr976=)
c.3009C>T (p.Thr1003=)
c.3027C>T (p.Thr1009=)
n.3400C>T
n.3624C>T
c.2196C>T (p.Thr732=)
c.1971C>T (p.Thr657=)
c.3066C>T (p.Thr1022=)
c.1039C>T
c.*362C>T (n.*362C>T)
n.4005C>T
n.2606C>T
c.3117C>T (p.Thr1039=)
c.3165C>T (p.Thr1055=)
c.3225C>T (p.Thr1075=)
c.2775C>T (p.Thr925=)
c.1077C>T (p.Thr359=)
c.894C>T (p.Thr298=)
c.3126C>T (p.Thr1042=)
c.3078C>T (p.Thr1026=)
c.2847C>T (p.Thr949=)
c.2748C>T (p.Thr916=)
c.1929C>T (p.Thr643=)
n.3480C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51942537G>CCA6988751ATP7Bc.*911C>G (n.*911C>G)
c.*2005C>G (n.*2005C>G)
c.2640C>G (p.Thr880=)
c.3261C>G (p.Thr1087=)
c.2928C>G (p.Thr976=)
c.3009C>G (p.Thr1003=)
c.3027C>G (p.Thr1009=)
n.3400C>G
n.3624C>G
c.2196C>G (p.Thr732=)
c.1971C>G (p.Thr657=)
c.3066C>G (p.Thr1022=)
c.1039C>G
c.*362C>G (n.*362C>G)
n.4005C>G
n.2606C>G
c.3117C>G (p.Thr1039=)
c.3165C>G (p.Thr1055=)
c.3225C>G (p.Thr1075=)
c.2775C>G (p.Thr925=)
c.1077C>G (p.Thr359=)
c.894C>G (p.Thr298=)
c.3126C>G (p.Thr1042=)
c.3078C>G (p.Thr1026=)
c.2847C>G (p.Thr949=)
c.2748C>G (p.Thr916=)
c.1929C>G (p.Thr643=)
n.3480C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51942537G=CA2091561668ATP7Bc.*911C= (n.*911C=)
c.*2005C= (n.*2005C=)
c.2640C= (p.Thr880=)
c.3261C= (p.Thr1087=)
c.2928C= (p.Thr976=)
c.3009C= (p.Thr1003=)
c.3027C= (p.Thr1009=)
n.3400C=
n.3624C=
c.2196C= (p.Thr732=)
c.1971C= (p.Thr657=)
c.3066C= (p.Thr1022=)
c.1039C=
c.*362C= (n.*362C=)
n.4005C=
n.2606C=
c.3117C= (p.Thr1039=)
c.3165C= (p.Thr1055=)
c.3225C= (p.Thr1075=)
c.2775C= (p.Thr925=)
c.1077C= (p.Thr359=)
c.894C= (p.Thr298=)
c.3126C= (p.Thr1042=)
c.3078C= (p.Thr1026=)
c.2847C= (p.Thr949=)
c.2748C= (p.Thr916=)
c.1929C= (p.Thr643=)
n.3480C=
13g.51942537G>TCA6988750ATP7Bc.*911C>A (n.*911C>A)
c.*2005C>A (n.*2005C>A)
c.2640C>A (p.Thr880=)
c.3261C>A (p.Thr1087=)
c.2928C>A (p.Thr976=)
c.3009C>A (p.Thr1003=)
c.3027C>A (p.Thr1009=)
n.3400C>A
n.3624C>A
c.2196C>A (p.Thr732=)
c.1971C>A (p.Thr657=)
c.3066C>A (p.Thr1022=)
c.1039C>A
c.*362C>A (n.*362C>A)
n.4005C>A
n.2606C>A
c.3117C>A (p.Thr1039=)
c.3165C>A (p.Thr1055=)
c.3225C>A (p.Thr1075=)
c.2775C>A (p.Thr925=)
c.1077C>A (p.Thr359=)
c.894C>A (p.Thr298=)
c.3126C>A (p.Thr1042=)
c.3078C>A (p.Thr1026=)
c.2847C>A (p.Thr949=)
c.2748C>A (p.Thr916=)
c.1929C>A (p.Thr643=)
n.3480C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51942538G>ACA388028895ATP7Bc.*910C>T (n.*910C>T)
c.*2004C>T (n.*2004C>T)
c.2639C>T (p.Thr880Ile)
c.3260C>T (p.Thr1087Ile)
c.2927C>T (p.Thr976Ile)
c.3008C>T (p.Thr1003Ile)
c.3026C>T (p.Thr1009Ile)
n.3399C>T
n.3623C>T
c.2195C>T (p.Thr732Ile)
c.1970C>T (p.Thr657Ile)
c.3065C>T (p.Thr1022Ile)
c.1038C>T
c.*361C>T (n.*361C>T)
n.4004C>T
n.2605C>T
c.3116C>T (p.Thr1039Ile)
c.3164C>T (p.Thr1055Ile)
c.3224C>T (p.Thr1075Ile)
c.2774C>T (p.Thr925Ile)
c.1076C>T (p.Thr359Ile)
c.893C>T (p.Thr298Ile)
c.3125C>T (p.Thr1042Ile)
c.3077C>T (p.Thr1026Ile)
c.2846C>T (p.Thr949Ile)
c.2747C>T (p.Thr916Ile)
c.1928C>T (p.Thr643Ile)
n.3479C>T
13g.51942538G>CCA388028904ATP7Bc.*910C>G (n.*910C>G)
c.*2004C>G (n.*2004C>G)
c.2639C>G (p.Thr880Ser)
c.3260C>G (p.Thr1087Ser)
c.2927C>G (p.Thr976Ser)
c.3008C>G (p.Thr1003Ser)
c.3026C>G (p.Thr1009Ser)
n.3399C>G
n.3623C>G
c.2195C>G (p.Thr732Ser)
c.1970C>G (p.Thr657Ser)
c.3065C>G (p.Thr1022Ser)
c.1038C>G
c.*361C>G (n.*361C>G)
n.4004C>G
n.2605C>G
c.3116C>G (p.Thr1039Ser)
c.3164C>G (p.Thr1055Ser)
c.3224C>G (p.Thr1075Ser)
c.2774C>G (p.Thr925Ser)
c.1076C>G (p.Thr359Ser)
c.893C>G (p.Thr298Ser)
c.3125C>G (p.Thr1042Ser)
c.3077C>G (p.Thr1026Ser)
c.2846C>G (p.Thr949Ser)
c.2747C>G (p.Thr916Ser)
c.1928C>G (p.Thr643Ser)
n.3479C>G
13g.51942538G>TCA388028909ATP7Bc.*910C>A (n.*910C>A)
c.*2004C>A (n.*2004C>A)
c.2639C>A (p.Thr880Asn)
c.3260C>A (p.Thr1087Asn)
c.2927C>A (p.Thr976Asn)
c.3008C>A (p.Thr1003Asn)
c.3026C>A (p.Thr1009Asn)
n.3399C>A
n.3623C>A
c.2195C>A (p.Thr732Asn)
c.1970C>A (p.Thr657Asn)
c.3065C>A (p.Thr1022Asn)
c.1038C>A
c.*361C>A (n.*361C>A)
n.4004C>A
n.2605C>A
c.3116C>A (p.Thr1039Asn)
c.3164C>A (p.Thr1055Asn)
c.3224C>A (p.Thr1075Asn)
c.2774C>A (p.Thr925Asn)
c.1076C>A (p.Thr359Asn)
c.893C>A (p.Thr298Asn)
c.3125C>A (p.Thr1042Asn)
c.3077C>A (p.Thr1026Asn)
c.2846C>A (p.Thr949Asn)
c.2747C>A (p.Thr916Asn)
c.1928C>A (p.Thr643Asn)
n.3479C>A
 gnomAD v4
13g.51942539T>ACA388028911ATP7Bc.*909A>T (n.*909A>T)
c.*2003A>T (n.*2003A>T)
c.2638A>T (p.Thr880Ser)
c.3259A>T (p.Thr1087Ser)
c.2926A>T (p.Thr976Ser)
c.3007A>T (p.Thr1003Ser)
c.3025A>T (p.Thr1009Ser)
n.3398A>T
n.3622A>T
c.2194A>T (p.Thr732Ser)
c.1969A>T (p.Thr657Ser)
c.3064A>T (p.Thr1022Ser)
c.1037A>T
c.*360A>T (n.*360A>T)
n.4003A>T
n.2604A>T
c.3115A>T (p.Thr1039Ser)
c.3163A>T (p.Thr1055Ser)
c.3223A>T (p.Thr1075Ser)
c.2773A>T (p.Thr925Ser)
c.1075A>T (p.Thr359Ser)
c.892A>T (p.Thr298Ser)
c.3124A>T (p.Thr1042Ser)
c.3076A>T (p.Thr1026Ser)
c.2845A>T (p.Thr949Ser)
c.2746A>T (p.Thr916Ser)
c.1927A>T (p.Thr643Ser)
n.3478A>T
13g.51942539T>CCA388028913ATP7Bc.*909A>G (n.*909A>G)
c.*2003A>G (n.*2003A>G)
c.2638A>G (p.Thr880Ala)
c.3259A>G (p.Thr1087Ala)
c.2926A>G (p.Thr976Ala)
c.3007A>G (p.Thr1003Ala)
c.3025A>G (p.Thr1009Ala)
n.3398A>G
n.3622A>G
c.2194A>G (p.Thr732Ala)
c.1969A>G (p.Thr657Ala)
c.3064A>G (p.Thr1022Ala)
c.1037A>G
c.*360A>G (n.*360A>G)
n.4003A>G
n.2604A>G
c.3115A>G (p.Thr1039Ala)
c.3163A>G (p.Thr1055Ala)
c.3223A>G (p.Thr1075Ala)
c.2773A>G (p.Thr925Ala)
c.1075A>G (p.Thr359Ala)
c.892A>G (p.Thr298Ala)
c.3124A>G (p.Thr1042Ala)
c.3076A>G (p.Thr1026Ala)
c.2845A>G (p.Thr949Ala)
c.2746A>G (p.Thr916Ala)
c.1927A>G (p.Thr643Ala)
n.3478A>G
 gnomAD v4
13g.51942539T>GCA388028919ATP7Bc.*909A>C (n.*909A>C)
c.*2003A>C (n.*2003A>C)
c.2638A>C (p.Thr880Pro)
c.3259A>C (p.Thr1087Pro)
c.2926A>C (p.Thr976Pro)
c.3007A>C (p.Thr1003Pro)
c.3025A>C (p.Thr1009Pro)
n.3398A>C
n.3622A>C
c.2194A>C (p.Thr732Pro)
c.1969A>C (p.Thr657Pro)
c.3064A>C (p.Thr1022Pro)
c.1037A>C
c.*360A>C (n.*360A>C)
n.4003A>C
n.2604A>C
c.3115A>C (p.Thr1039Pro)
c.3163A>C (p.Thr1055Pro)
c.3223A>C (p.Thr1075Pro)
c.2773A>C (p.Thr925Pro)
c.1075A>C (p.Thr359Pro)
c.892A>C (p.Thr298Pro)
c.3124A>C (p.Thr1042Pro)
c.3076A>C (p.Thr1026Pro)
c.2845A>C (p.Thr949Pro)
c.2746A>C (p.Thr916Pro)
c.1927A>C (p.Thr643Pro)
n.3478A>C
13g.51942540_51942543dupCA2623119932ATP7Bc.*906_*909dup (n.*906_*909dup)
c.*2000_*2003dup (n.*2000_*2003dup)
c.2635_2638dup (p.Thr880ArgfsTer?)
c.3256_3259dup (p.Thr1087ArgfsTer?)
c.2923_2926dup (p.Thr976ArgfsTer?)
c.3004_3007dup (p.Thr1003ArgfsTer?)
c.3022_3025dup (p.Thr1009ArgfsTer?)
n.3395_3398dup
n.3619_3622dup
c.2191_2194dup (p.Thr732ArgfsTer?)
c.1966_1969dup (p.Thr657ArgfsTer?)
c.3061_3064dup (p.Thr1022ArgfsTer?)
c.1034_1037dup
c.*357_*360dup (n.*357_*360dup)
n.4000_4003dup
n.2601_2604dup
c.3112_3115dup (p.Thr1039ArgfsTer?)
c.3160_3163dup (p.Thr1055ArgfsTer?)
c.3220_3223dup (p.Thr1075ArgfsTer?)
c.2770_2773dup (p.Thr925ArgfsTer?)
c.1072_1075dup (p.Thr359ArgfsTer?)
c.889_892dup (p.Thr298ArgfsTer?)
c.3121_3124dup (p.Thr1042ArgfsTer?)
c.3073_3076dup (p.Thr1026ArgfsTer?)
c.2842_2845dup (p.Thr949ArgfsTer?)
c.2743_2746dup (p.Thr916ArgfsTer?)
c.1924_1927dup (p.Thr643ArgfsTer?)
n.3475_3478dup
 gnomAD v4
13g.51942542_51942543delCA2695199757ATP7Bc.*908_*909del (n.*908_*909del)
c.*2002_*2003del (n.*2002_*2003del)
c.2637_2638del (p.Glu879AspfsTer?)
c.3258_3259del (p.Glu1086AspfsTer?)
c.2925_2926del (p.Glu975AspfsTer?)
c.3006_3007del (p.Glu1002AspfsTer?)
c.3024_3025del (p.Glu1008AspfsTer?)
n.3397_3398del
n.3621_3622del
c.2193_2194del (p.Glu731AspfsTer?)
c.1968_1969del (p.Glu656AspfsTer?)
c.3063_3064del (p.Glu1021AspfsTer?)
c.1036_1037del
c.*359_*360del (n.*359_*360del)
n.4002_4003del
n.2603_2604del
c.3114_3115del (p.Glu1038AspfsTer?)
c.3162_3163del (p.Glu1054AspfsTer?)
c.3222_3223del (p.Glu1074AspfsTer?)
c.2772_2773del (p.Glu924AspfsTer?)
c.1074_1075del (p.Glu358AspfsTer?)
c.891_892del (p.Glu297AspfsTer?)
c.3123_3124del (p.Glu1041AspfsTer?)
c.3075_3076del (p.Glu1025AspfsTer?)
c.2844_2845del (p.Glu948AspfsTer?)
c.2745_2746del (p.Glu915AspfsTer?)
c.1926_1927del (p.Glu642AspfsTer?)
n.3477_3478del
 ClinVar
13g.51942540C>ACA388028923ATP7Bc.*908G>T (n.*908G>T)
c.*2002G>T (n.*2002G>T)
c.2637G>T (p.Glu879Asp)
c.3258G>T (p.Glu1086Asp)
c.2925G>T (p.Glu975Asp)
c.3006G>T (p.Glu1002Asp)
c.3024G>T (p.Glu1008Asp)
n.3397G>T
n.3621G>T
c.2193G>T (p.Glu731Asp)
c.1968G>T (p.Glu656Asp)
c.3063G>T (p.Glu1021Asp)
c.1036G>T
c.*359G>T (n.*359G>T)
n.4002G>T
n.2603G>T
c.3114G>T (p.Glu1038Asp)
c.3162G>T (p.Glu1054Asp)
c.3222G>T (p.Glu1074Asp)
c.2772G>T (p.Glu924Asp)
c.1074G>T (p.Glu358Asp)
c.891G>T (p.Glu297Asp)
c.3123G>T (p.Glu1041Asp)
c.3075G>T (p.Glu1025Asp)
c.2844G>T (p.Glu948Asp)
c.2745G>T (p.Glu915Asp)
c.1926G>T (p.Glu642Asp)
n.3477G>T
13g.51942540C>GCA388028926ATP7Bc.*908G>C (n.*908G>C)
c.*2002G>C (n.*2002G>C)
c.2637G>C (p.Glu879Asp)
c.3258G>C (p.Glu1086Asp)
c.2925G>C (p.Glu975Asp)
c.3006G>C (p.Glu1002Asp)
c.3024G>C (p.Glu1008Asp)
n.3397G>C
n.3621G>C
c.2193G>C (p.Glu731Asp)
c.1968G>C (p.Glu656Asp)
c.3063G>C (p.Glu1021Asp)
c.1036G>C
c.*359G>C (n.*359G>C)
n.4002G>C
n.2603G>C
c.3114G>C (p.Glu1038Asp)
c.3162G>C (p.Glu1054Asp)
c.3222G>C (p.Glu1074Asp)
c.2772G>C (p.Glu924Asp)
c.1074G>C (p.Glu358Asp)
c.891G>C (p.Glu297Asp)
c.3123G>C (p.Glu1041Asp)
c.3075G>C (p.Glu1025Asp)
c.2844G>C (p.Glu948Asp)
c.2745G>C (p.Glu915Asp)
c.1926G>C (p.Glu642Asp)
n.3477G>C
 ClinVar gnomAD v4
13g.51942540C>TCA483894517ATP7Bc.*908G>A (n.*908G>A)
c.*2002G>A (n.*2002G>A)
c.2637G>A (p.Glu879=)
c.3258G>A (p.Glu1086=)
c.2925G>A (p.Glu975=)
c.3006G>A (p.Glu1002=)
c.3024G>A (p.Glu1008=)
n.3397G>A
n.3621G>A
c.2193G>A (p.Glu731=)
c.1968G>A (p.Glu656=)
c.3063G>A (p.Glu1021=)
c.1036G>A
c.*359G>A (n.*359G>A)
n.4002G>A
n.2603G>A
c.3114G>A (p.Glu1038=)
c.3162G>A (p.Glu1054=)
c.3222G>A (p.Glu1074=)
c.2772G>A (p.Glu924=)
c.1074G>A (p.Glu358=)
c.891G>A (p.Glu297=)
c.3123G>A (p.Glu1041=)
c.3075G>A (p.Glu1025=)
c.2844G>A (p.Glu948=)
c.2745G>A (p.Glu915=)
c.1926G>A (p.Glu642=)
n.3477G>A
 ClinVar gnomAD v4
13g.51942541T>ACA388028927ATP7Bc.*907A>T (n.*907A>T)
c.*2001A>T (n.*2001A>T)
c.2636A>T (p.Glu879Val)
c.3257A>T (p.Glu1086Val)
c.2924A>T (p.Glu975Val)
c.3005A>T (p.Glu1002Val)
c.3023A>T (p.Glu1008Val)
n.3396A>T
n.3620A>T
c.2192A>T (p.Glu731Val)
c.1967A>T (p.Glu656Val)
c.3062A>T (p.Glu1021Val)
c.1035A>T
c.*358A>T (n.*358A>T)
n.4001A>T
n.2602A>T
c.3113A>T (p.Glu1038Val)
c.3161A>T (p.Glu1054Val)
c.3221A>T (p.Glu1074Val)
c.2771A>T (p.Glu924Val)
c.1073A>T (p.Glu358Val)
c.890A>T (p.Glu297Val)
c.3122A>T (p.Glu1041Val)
c.3074A>T (p.Glu1025Val)
c.2843A>T (p.Glu948Val)
c.2744A>T (p.Glu915Val)
c.1925A>T (p.Glu642Val)
n.3476A>T
13g.51942541T>CCA388028928ATP7Bc.*907A>G (n.*907A>G)
c.*2001A>G (n.*2001A>G)
c.2636A>G (p.Glu879Gly)
c.3257A>G (p.Glu1086Gly)
c.2924A>G (p.Glu975Gly)
c.3005A>G (p.Glu1002Gly)
c.3023A>G (p.Glu1008Gly)
n.3396A>G
n.3620A>G
c.2192A>G (p.Glu731Gly)
c.1967A>G (p.Glu656Gly)
c.3062A>G (p.Glu1021Gly)
c.1035A>G
c.*358A>G (n.*358A>G)
n.4001A>G
n.2602A>G
c.3113A>G (p.Glu1038Gly)
c.3161A>G (p.Glu1054Gly)
c.3221A>G (p.Glu1074Gly)
c.2771A>G (p.Glu924Gly)
c.1073A>G (p.Glu358Gly)
c.890A>G (p.Glu297Gly)
c.3122A>G (p.Glu1041Gly)
c.3074A>G (p.Glu1025Gly)
c.2843A>G (p.Glu948Gly)
c.2744A>G (p.Glu915Gly)
c.1925A>G (p.Glu642Gly)
n.3476A>G
13g.51942541T>GCA388028929ATP7Bc.*907A>C (n.*907A>C)
c.*2001A>C (n.*2001A>C)
c.2636A>C (p.Glu879Ala)
c.3257A>C (p.Glu1086Ala)
c.2924A>C (p.Glu975Ala)
c.3005A>C (p.Glu1002Ala)
c.3023A>C (p.Glu1008Ala)
n.3396A>C
n.3620A>C
c.2192A>C (p.Glu731Ala)
c.1967A>C (p.Glu656Ala)
c.3062A>C (p.Glu1021Ala)
c.1035A>C
c.*358A>C (n.*358A>C)
n.4001A>C
n.2602A>C
c.3113A>C (p.Glu1038Ala)
c.3161A>C (p.Glu1054Ala)
c.3221A>C (p.Glu1074Ala)
c.2771A>C (p.Glu924Ala)
c.1073A>C (p.Glu358Ala)
c.890A>C (p.Glu297Ala)
c.3122A>C (p.Glu1041Ala)
c.3074A>C (p.Glu1025Ala)
c.2843A>C (p.Glu948Ala)
c.2744A>C (p.Glu915Ala)
c.1925A>C (p.Glu642Ala)
n.3476A>C
13g.51942542C>ACA388028932ATP7Bc.*906G>T (n.*906G>T)
c.*2000G>T (n.*2000G>T)
c.2635G>T (p.Glu879Ter)
c.3256G>T (p.Glu1086Ter)
c.2923G>T (p.Glu975Ter)
c.3004G>T (p.Glu1002Ter)
c.3022G>T (p.Glu1008Ter)
n.3395G>T
n.3619G>T
c.2191G>T (p.Glu731Ter)
c.1966G>T (p.Glu656Ter)
c.3061G>T (p.Glu1021Ter)
c.1034G>T
c.*357G>T (n.*357G>T)
n.4000G>T
n.2601G>T
c.3112G>T (p.Glu1038Ter)
c.3160G>T (p.Glu1054Ter)
c.3220G>T (p.Glu1074Ter)
c.2770G>T (p.Glu924Ter)
c.1072G>T (p.Glu358Ter)
c.889G>T (p.Glu297Ter)
c.3121G>T (p.Glu1041Ter)
c.3073G>T (p.Glu1025Ter)
c.2842G>T (p.Glu948Ter)
c.2743G>T (p.Glu915Ter)
c.1924G>T (p.Glu642Ter)
n.3475G>T
13g.51942542C>GCA388028933ATP7Bc.*906G>C (n.*906G>C)
c.*2000G>C (n.*2000G>C)
c.2635G>C (p.Glu879Gln)
c.3256G>C (p.Glu1086Gln)
c.2923G>C (p.Glu975Gln)
c.3004G>C (p.Glu1002Gln)
c.3022G>C (p.Glu1008Gln)
n.3395G>C
n.3619G>C
c.2191G>C (p.Glu731Gln)
c.1966G>C (p.Glu656Gln)
c.3061G>C (p.Glu1021Gln)
c.1034G>C
c.*357G>C (n.*357G>C)
n.4000G>C
n.2601G>C
c.3112G>C (p.Glu1038Gln)
c.3160G>C (p.Glu1054Gln)
c.3220G>C (p.Glu1074Gln)
c.2770G>C (p.Glu924Gln)
c.1072G>C (p.Glu358Gln)
c.889G>C (p.Glu297Gln)
c.3121G>C (p.Glu1041Gln)
c.3073G>C (p.Glu1025Gln)
c.2842G>C (p.Glu948Gln)
c.2743G>C (p.Glu915Gln)
c.1924G>C (p.Glu642Gln)
n.3475G>C
13g.51942542C>TCA388028935ATP7Bc.*906G>A (n.*906G>A)
c.*2000G>A (n.*2000G>A)
c.2635G>A (p.Glu879Lys)
c.3256G>A (p.Glu1086Lys)
c.2923G>A (p.Glu975Lys)
c.3004G>A (p.Glu1002Lys)
c.3022G>A (p.Glu1008Lys)
n.3395G>A
n.3619G>A
c.2191G>A (p.Glu731Lys)
c.1966G>A (p.Glu656Lys)
c.3061G>A (p.Glu1021Lys)
c.1034G>A
c.*357G>A (n.*357G>A)
n.4000G>A
n.2601G>A
c.3112G>A (p.Glu1038Lys)
c.3160G>A (p.Glu1054Lys)
c.3220G>A (p.Glu1074Lys)
c.2770G>A (p.Glu924Lys)
c.1072G>A (p.Glu358Lys)
c.889G>A (p.Glu297Lys)
c.3121G>A (p.Glu1041Lys)
c.3073G>A (p.Glu1025Lys)
c.2842G>A (p.Glu948Lys)
c.2743G>A (p.Glu915Lys)
c.1924G>A (p.Glu642Lys)
n.3475G>A
13g.51942543T>ACA483894520ATP7Bc.*905A>T (n.*905A>T)
c.*1999A>T (n.*1999A>T)
c.2634A>T (p.Thr878=)
c.3255A>T (p.Thr1085=)
c.2922A>T (p.Thr974=)
c.3003A>T (p.Thr1001=)
c.3021A>T (p.Thr1007=)
n.3394A>T
n.3618A>T
c.2190A>T (p.Thr730=)
c.1965A>T (p.Thr655=)
c.3060A>T (p.Thr1020=)
c.1033A>T
c.*356A>T (n.*356A>T)
n.3999A>T
n.2600A>T
c.3111A>T (p.Thr1037=)
c.3159A>T (p.Thr1053=)
c.3219A>T (p.Thr1073=)
c.2769A>T (p.Thr923=)
c.1071A>T (p.Thr357=)
c.888A>T (p.Thr296=)
c.3120A>T (p.Thr1040=)
c.3072A>T (p.Thr1024=)
c.2841A>T (p.Thr947=)
c.2742A>T (p.Thr914=)
c.1923A>T (p.Thr641=)
n.3474A>T
13g.51942543T>CCA483894521ATP7Bc.*905A>G (n.*905A>G)
c.*1999A>G (n.*1999A>G)
c.2634A>G (p.Thr878=)
c.3255A>G (p.Thr1085=)
c.2922A>G (p.Thr974=)
c.3003A>G (p.Thr1001=)
c.3021A>G (p.Thr1007=)
n.3394A>G
n.3618A>G
c.2190A>G (p.Thr730=)
c.1965A>G (p.Thr655=)
c.3060A>G (p.Thr1020=)
c.1033A>G
c.*356A>G (n.*356A>G)
n.3999A>G
n.2600A>G
c.3111A>G (p.Thr1037=)
c.3159A>G (p.Thr1053=)
c.3219A>G (p.Thr1073=)
c.2769A>G (p.Thr923=)
c.1071A>G (p.Thr357=)
c.888A>G (p.Thr296=)
c.3120A>G (p.Thr1040=)
c.3072A>G (p.Thr1024=)
c.2841A>G (p.Thr947=)
c.2742A>G (p.Thr914=)
c.1923A>G (p.Thr641=)
n.3474A>G
 ClinVar dbSNP
13g.51942543T>GCA483894523ATP7Bc.*905A>C (n.*905A>C)
c.*1999A>C (n.*1999A>C)
c.2634A>C (p.Thr878=)
c.3255A>C (p.Thr1085=)
c.2922A>C (p.Thr974=)
c.3003A>C (p.Thr1001=)
c.3021A>C (p.Thr1007=)
n.3394A>C
n.3618A>C
c.2190A>C (p.Thr730=)
c.1965A>C (p.Thr655=)
c.3060A>C (p.Thr1020=)
c.1033A>C
c.*356A>C (n.*356A>C)
n.3999A>C
n.2600A>C
c.3111A>C (p.Thr1037=)
c.3159A>C (p.Thr1053=)
c.3219A>C (p.Thr1073=)
c.2769A>C (p.Thr923=)
c.1071A>C (p.Thr357=)
c.888A>C (p.Thr296=)
c.3120A>C (p.Thr1040=)
c.3072A>C (p.Thr1024=)
c.2841A>C (p.Thr947=)
c.2742A>C (p.Thr914=)
c.1923A>C (p.Thr641=)
n.3474A>C
13g.51942544G>ACA388028942ATP7Bc.*904C>T (n.*904C>T)
c.*1998C>T (n.*1998C>T)
c.2633C>T (p.Thr878Ile)
c.3254C>T (p.Thr1085Ile)
c.2921C>T (p.Thr974Ile)
c.3002C>T (p.Thr1001Ile)
c.3020C>T (p.Thr1007Ile)
n.3393C>T
n.3617C>T
c.2189C>T (p.Thr730Ile)
c.1964C>T (p.Thr655Ile)
c.3059C>T (p.Thr1020Ile)
c.1032C>T
c.*355C>T (n.*355C>T)
n.3998C>T
n.2599C>T
c.3110C>T (p.Thr1037Ile)
c.3158C>T (p.Thr1053Ile)
c.3218C>T (p.Thr1073Ile)
c.2768C>T (p.Thr923Ile)
c.1070C>T (p.Thr357Ile)
c.887C>T (p.Thr296Ile)
c.3119C>T (p.Thr1040Ile)
c.3071C>T (p.Thr1024Ile)
c.2840C>T (p.Thr947Ile)
c.2741C>T (p.Thr914Ile)
c.1922C>T (p.Thr641Ile)
n.3473C>T
 gnomAD v4
13g.51942544G>CCA388028944ATP7Bc.*904C>G (n.*904C>G)
c.*1998C>G (n.*1998C>G)
c.2633C>G (p.Thr878Arg)
c.3254C>G (p.Thr1085Arg)
c.2921C>G (p.Thr974Arg)
c.3002C>G (p.Thr1001Arg)
c.3020C>G (p.Thr1007Arg)
n.3393C>G
n.3617C>G
c.2189C>G (p.Thr730Arg)
c.1964C>G (p.Thr655Arg)
c.3059C>G (p.Thr1020Arg)
c.1032C>G
c.*355C>G (n.*355C>G)
n.3998C>G
n.2599C>G
c.3110C>G (p.Thr1037Arg)
c.3158C>G (p.Thr1053Arg)
c.3218C>G (p.Thr1073Arg)
c.2768C>G (p.Thr923Arg)
c.1070C>G (p.Thr357Arg)
c.887C>G (p.Thr296Arg)
c.3119C>G (p.Thr1040Arg)
c.3071C>G (p.Thr1024Arg)
c.2840C>G (p.Thr947Arg)
c.2741C>G (p.Thr914Arg)
c.1922C>G (p.Thr641Arg)
n.3473C>G
13g.51942544G>TCA388028945ATP7Bc.*904C>A (n.*904C>A)
c.*1998C>A (n.*1998C>A)
c.2633C>A (p.Thr878Lys)
c.3254C>A (p.Thr1085Lys)
c.2921C>A (p.Thr974Lys)
c.3002C>A (p.Thr1001Lys)
c.3020C>A (p.Thr1007Lys)
n.3393C>A
n.3617C>A
c.2189C>A (p.Thr730Lys)
c.1964C>A (p.Thr655Lys)
c.3059C>A (p.Thr1020Lys)
c.1032C>A
c.*355C>A (n.*355C>A)
n.3998C>A
n.2599C>A
c.3110C>A (p.Thr1037Lys)
c.3158C>A (p.Thr1053Lys)
c.3218C>A (p.Thr1073Lys)
c.2768C>A (p.Thr923Lys)
c.1070C>A (p.Thr357Lys)
c.887C>A (p.Thr296Lys)
c.3119C>A (p.Thr1040Lys)
c.3071C>A (p.Thr1024Lys)
c.2840C>A (p.Thr947Lys)
c.2741C>A (p.Thr914Lys)
c.1922C>A (p.Thr641Lys)
n.3473C>A
 gnomAD v4
13g.51942544dupCA2695218734ATP7Bc.*904dup (n.*904dup)
c.*1998dup (n.*1998dup)
c.2633dup (p.Glu879ArgfsTer?)
c.3254dup (p.Glu1086ArgfsTer?)
c.2921dup (p.Glu975ArgfsTer?)
c.3002dup (p.Glu1002ArgfsTer?)
c.3020dup (p.Glu1008ArgfsTer?)
n.3393dup
n.3617dup
c.2189dup (p.Glu731ArgfsTer?)
c.1964dup (p.Glu656ArgfsTer?)
c.3059dup (p.Glu1021ArgfsTer?)
c.1032dup
c.*355dup (n.*355dup)
n.3998dup
n.2599dup
c.3110dup (p.Glu1038ArgfsTer?)
c.3158dup (p.Glu1054ArgfsTer?)
c.3218dup (p.Glu1074ArgfsTer?)
c.2768dup (p.Glu924ArgfsTer?)
c.1070dup (p.Glu358ArgfsTer?)
c.887dup (p.Glu297ArgfsTer?)
c.3119dup (p.Glu1041ArgfsTer?)
c.3071dup (p.Glu1025ArgfsTer?)
c.2840dup (p.Glu948ArgfsTer?)
c.2741dup (p.Glu915ArgfsTer?)
c.1922dup (p.Glu642ArgfsTer?)
n.3473dup
13g.51942545T>ACA388028950ATP7Bc.*903A>T (n.*903A>T)
c.*1997A>T (n.*1997A>T)
c.2632A>T (p.Thr878Ser)
c.3253A>T (p.Thr1085Ser)
c.2920A>T (p.Thr974Ser)
c.3001A>T (p.Thr1001Ser)
c.3019A>T (p.Thr1007Ser)
n.3392A>T
n.3616A>T
c.2188A>T (p.Thr730Ser)
c.1963A>T (p.Thr655Ser)
c.3058A>T (p.Thr1020Ser)
c.1031A>T
c.*354A>T (n.*354A>T)
n.3997A>T
n.2598A>T
c.3109A>T (p.Thr1037Ser)
c.3157A>T (p.Thr1053Ser)
c.3217A>T (p.Thr1073Ser)
c.2767A>T (p.Thr923Ser)
c.1069A>T (p.Thr357Ser)
c.886A>T (p.Thr296Ser)
c.3118A>T (p.Thr1040Ser)
c.3070A>T (p.Thr1024Ser)
c.2839A>T (p.Thr947Ser)
c.2740A>T (p.Thr914Ser)
c.1921A>T (p.Thr641Ser)
n.3472A>T
13g.51942545T>CCA388028963ATP7Bc.*903A>G (n.*903A>G)
c.*1997A>G (n.*1997A>G)
c.2632A>G (p.Thr878Ala)
c.3253A>G (p.Thr1085Ala)
c.2920A>G (p.Thr974Ala)
c.3001A>G (p.Thr1001Ala)
c.3019A>G (p.Thr1007Ala)
n.3392A>G
n.3616A>G
c.2188A>G (p.Thr730Ala)
c.1963A>G (p.Thr655Ala)
c.3058A>G (p.Thr1020Ala)
c.1031A>G
c.*354A>G (n.*354A>G)
n.3997A>G
n.2598A>G
c.3109A>G (p.Thr1037Ala)
c.3157A>G (p.Thr1053Ala)
c.3217A>G (p.Thr1073Ala)
c.2767A>G (p.Thr923Ala)
c.1069A>G (p.Thr357Ala)
c.886A>G (p.Thr296Ala)
c.3118A>G (p.Thr1040Ala)
c.3070A>G (p.Thr1024Ala)
c.2839A>G (p.Thr947Ala)
c.2740A>G (p.Thr914Ala)
c.1921A>G (p.Thr641Ala)
n.3472A>G
13g.51942545T>GCA388028972ATP7Bc.*903A>C (n.*903A>C)
c.*1997A>C (n.*1997A>C)
c.2632A>C (p.Thr878Pro)
c.3253A>C (p.Thr1085Pro)
c.2920A>C (p.Thr974Pro)
c.3001A>C (p.Thr1001Pro)
c.3019A>C (p.Thr1007Pro)
n.3392A>C
n.3616A>C
c.2188A>C (p.Thr730Pro)
c.1963A>C (p.Thr655Pro)
c.3058A>C (p.Thr1020Pro)
c.1031A>C
c.*354A>C (n.*354A>C)
n.3997A>C
n.2598A>C
c.3109A>C (p.Thr1037Pro)
c.3157A>C (p.Thr1053Pro)
c.3217A>C (p.Thr1073Pro)
c.2767A>C (p.Thr923Pro)
c.1069A>C (p.Thr357Pro)
c.886A>C (p.Thr296Pro)
c.3118A>C (p.Thr1040Pro)
c.3070A>C (p.Thr1024Pro)
c.2839A>C (p.Thr947Pro)
c.2740A>C (p.Thr914Pro)
c.1921A>C (p.Thr641Pro)
n.3472A>C
13g.51942546T>ACA483894524ATP7Bc.*902A>T (n.*902A>T)
c.*1996A>T (n.*1996A>T)
c.2631A>T (p.Gly877=)
c.3252A>T (p.Gly1084=)
c.2919A>T (p.Gly973=)
c.3000A>T (p.Gly1000=)
c.3018A>T (p.Gly1006=)
n.3391A>T
n.3615A>T
c.2187A>T (p.Gly729=)
c.1962A>T (p.Gly654=)
c.3057A>T (p.Gly1019=)
c.1030A>T
c.*353A>T (n.*353A>T)
n.3996A>T
n.2597A>T
c.3108A>T (p.Gly1036=)
c.3156A>T (p.Gly1052=)
c.3216A>T (p.Gly1072=)
c.2766A>T (p.Gly922=)
c.1068A>T (p.Gly356=)
c.885A>T (p.Gly295=)
c.3117A>T (p.Gly1039=)
c.3069A>T (p.Gly1023=)
c.2838A>T (p.Gly946=)
c.2739A>T (p.Gly913=)
c.1920A>T (p.Gly640=)
n.3471A>T
13g.51942546T>CCA483894525ATP7Bc.*902A>G (n.*902A>G)
c.*1996A>G (n.*1996A>G)
c.2631A>G (p.Gly877=)
c.3252A>G (p.Gly1084=)
c.2919A>G (p.Gly973=)
c.3000A>G (p.Gly1000=)
c.3018A>G (p.Gly1006=)
n.3391A>G
n.3615A>G
c.2187A>G (p.Gly729=)
c.1962A>G (p.Gly654=)
c.3057A>G (p.Gly1019=)
c.1030A>G
c.*353A>G (n.*353A>G)
n.3996A>G
n.2597A>G
c.3108A>G (p.Gly1036=)
c.3156A>G (p.Gly1052=)
c.3216A>G (p.Gly1072=)
c.2766A>G (p.Gly922=)
c.1068A>G (p.Gly356=)
c.885A>G (p.Gly295=)
c.3117A>G (p.Gly1039=)
c.3069A>G (p.Gly1023=)
c.2838A>G (p.Gly946=)
c.2739A>G (p.Gly913=)
c.1920A>G (p.Gly640=)
n.3471A>G
13g.51942546T>GCA483894527ATP7Bc.*902A>C (n.*902A>C)
c.*1996A>C (n.*1996A>C)
c.2631A>C (p.Gly877=)
c.3252A>C (p.Gly1084=)
c.2919A>C (p.Gly973=)
c.3000A>C (p.Gly1000=)
c.3018A>C (p.Gly1006=)
n.3391A>C
n.3615A>C
c.2187A>C (p.Gly729=)
c.1962A>C (p.Gly654=)
c.3057A>C (p.Gly1019=)
c.1030A>C
c.*353A>C (n.*353A>C)
n.3996A>C
n.2597A>C
c.3108A>C (p.Gly1036=)
c.3156A>C (p.Gly1052=)
c.3216A>C (p.Gly1072=)
c.2766A>C (p.Gly922=)
c.1068A>C (p.Gly356=)
c.885A>C (p.Gly295=)
c.3117A>C (p.Gly1039=)
c.3069A>C (p.Gly1023=)
c.2838A>C (p.Gly946=)
c.2739A>C (p.Gly913=)
c.1920A>C (p.Gly640=)
n.3471A>C
 ClinVar dbSNP
13g.51942547C>ACA388028989ATP7Bc.*901G>T (n.*901G>T)
c.*1995G>T (n.*1995G>T)
c.2630G>T (p.Gly877Val)
c.3251G>T (p.Gly1084Val)
c.2918G>T (p.Gly973Val)
c.2999G>T (p.Gly1000Val)
c.3017G>T (p.Gly1006Val)
n.3390G>T
n.3614G>T
c.2186G>T (p.Gly729Val)
c.1961G>T (p.Gly654Val)
c.3056G>T (p.Gly1019Val)
c.1029G>T
c.*352G>T (n.*352G>T)
n.3995G>T
n.2596G>T
c.3107G>T (p.Gly1036Val)
c.3155G>T (p.Gly1052Val)
c.3215G>T (p.Gly1072Val)
c.2765G>T (p.Gly922Val)
c.1067G>T (p.Gly356Val)
c.884G>T (p.Gly295Val)
c.3116G>T (p.Gly1039Val)
c.3068G>T (p.Gly1023Val)
c.2837G>T (p.Gly946Val)
c.2738G>T (p.Gly913Val)
c.1919G>T (p.Gly640Val)
n.3470G>T
13g.51942547C>GCA388028987ATP7Bc.*901G>C (n.*901G>C)
c.*1995G>C (n.*1995G>C)
c.2630G>C (p.Gly877Ala)
c.3251G>C (p.Gly1084Ala)
c.2918G>C (p.Gly973Ala)
c.2999G>C (p.Gly1000Ala)
c.3017G>C (p.Gly1006Ala)
n.3390G>C
n.3614G>C
c.2186G>C (p.Gly729Ala)
c.1961G>C (p.Gly654Ala)
c.3056G>C (p.Gly1019Ala)
c.1029G>C
c.*352G>C (n.*352G>C)
n.3995G>C
n.2596G>C
c.3107G>C (p.Gly1036Ala)
c.3155G>C (p.Gly1052Ala)
c.3215G>C (p.Gly1072Ala)
c.2765G>C (p.Gly922Ala)
c.1067G>C (p.Gly356Ala)
c.884G>C (p.Gly295Ala)
c.3116G>C (p.Gly1039Ala)
c.3068G>C (p.Gly1023Ala)
c.2837G>C (p.Gly946Ala)
c.2738G>C (p.Gly913Ala)
c.1919G>C (p.Gly640Ala)
n.3470G>C
13g.51942547C>TCA388028981ATP7Bc.*901G>A (n.*901G>A)
c.*1995G>A (n.*1995G>A)
c.2630G>A (p.Gly877Glu)
c.3251G>A (p.Gly1084Glu)
c.2918G>A (p.Gly973Glu)
c.2999G>A (p.Gly1000Glu)
c.3017G>A (p.Gly1006Glu)
n.3390G>A
n.3614G>A
c.2186G>A (p.Gly729Glu)
c.1961G>A (p.Gly654Glu)
c.3056G>A (p.Gly1019Glu)
c.1029G>A
c.*352G>A (n.*352G>A)
n.3995G>A
n.2596G>A
c.3107G>A (p.Gly1036Glu)
c.3155G>A (p.Gly1052Glu)
c.3215G>A (p.Gly1072Glu)
c.2765G>A (p.Gly922Glu)
c.1067G>A (p.Gly356Glu)
c.884G>A (p.Gly295Glu)
c.3116G>A (p.Gly1039Glu)
c.3068G>A (p.Gly1023Glu)
c.2837G>A (p.Gly946Glu)
c.2738G>A (p.Gly913Glu)
c.1919G>A (p.Gly640Glu)
n.3470G>A
13g.51942548C>ACA388028993ATP7Bc.*900G>T (n.*900G>T)
c.*1994G>T (n.*1994G>T)
c.2629G>T (p.Gly877Ter)
c.3250G>T (p.Gly1084Ter)
c.2917G>T (p.Gly973Ter)
c.2998G>T (p.Gly1000Ter)
c.3016G>T (p.Gly1006Ter)
n.3389G>T
n.3613G>T
c.2185G>T (p.Gly729Ter)
c.1960G>T (p.Gly654Ter)
c.3055G>T (p.Gly1019Ter)
c.1028G>T
c.*351G>T (n.*351G>T)
n.3994G>T
n.2595G>T
c.3106G>T (p.Gly1036Ter)
c.3154G>T (p.Gly1052Ter)
c.3214G>T (p.Gly1072Ter)
c.2764G>T (p.Gly922Ter)
c.1066G>T (p.Gly356Ter)
c.883G>T (p.Gly295Ter)
c.3115G>T (p.Gly1039Ter)
c.3067G>T (p.Gly1023Ter)
c.2836G>T (p.Gly946Ter)
c.2737G>T (p.Gly913Ter)
c.1918G>T (p.Gly640Ter)
n.3469G>T
13g.51942548C>GCA388029003ATP7Bc.*900G>C (n.*900G>C)
c.*1994G>C (n.*1994G>C)
c.2629G>C (p.Gly877Arg)
c.3250G>C (p.Gly1084Arg)
c.2917G>C (p.Gly973Arg)
c.2998G>C (p.Gly1000Arg)
c.3016G>C (p.Gly1006Arg)
n.3389G>C
n.3613G>C
c.2185G>C (p.Gly729Arg)
c.1960G>C (p.Gly654Arg)
c.3055G>C (p.Gly1019Arg)
c.1028G>C
c.*351G>C (n.*351G>C)
n.3994G>C
n.2595G>C
c.3106G>C (p.Gly1036Arg)
c.3154G>C (p.Gly1052Arg)
c.3214G>C (p.Gly1072Arg)
c.2764G>C (p.Gly922Arg)
c.1066G>C (p.Gly356Arg)
c.883G>C (p.Gly295Arg)
c.3115G>C (p.Gly1039Arg)
c.3067G>C (p.Gly1023Arg)
c.2836G>C (p.Gly946Arg)
c.2737G>C (p.Gly913Arg)
c.1918G>C (p.Gly640Arg)
n.3469G>C
13g.51942548C>TCA388028995ATP7Bc.*900G>A (n.*900G>A)
c.*1994G>A (n.*1994G>A)
c.2629G>A (p.Gly877Arg)
c.3250G>A (p.Gly1084Arg)
c.2917G>A (p.Gly973Arg)
c.2998G>A (p.Gly1000Arg)
c.3016G>A (p.Gly1006Arg)
n.3389G>A
n.3613G>A
c.2185G>A (p.Gly729Arg)
c.1960G>A (p.Gly654Arg)
c.3055G>A (p.Gly1019Arg)
c.1028G>A
c.*351G>A (n.*351G>A)
n.3994G>A
n.2595G>A
c.3106G>A (p.Gly1036Arg)
c.3154G>A (p.Gly1052Arg)
c.3214G>A (p.Gly1072Arg)
c.2764G>A (p.Gly922Arg)
c.1066G>A (p.Gly356Arg)
c.883G>A (p.Gly295Arg)
c.3115G>A (p.Gly1039Arg)
c.3067G>A (p.Gly1023Arg)
c.2836G>A (p.Gly946Arg)
c.2737G>A (p.Gly913Arg)
c.1918G>A (p.Gly640Arg)
n.3469G>A
13g.51942549A>CCA483894528ATP7Bc.*899T>G (n.*899T>G)
c.*1993T>G (n.*1993T>G)
c.2628T>G (p.Leu876=)
c.3249T>G (p.Leu1083=)
c.2916T>G (p.Leu972=)
c.2997T>G (p.Leu999=)
c.3015T>G (p.Leu1005=)
n.3388T>G
n.3612T>G
c.2184T>G (p.Leu728=)
c.1959T>G (p.Leu653=)
c.3054T>G (p.Leu1018=)
c.1027T>G
c.*350T>G (n.*350T>G)
n.3993T>G
n.2594T>G
c.3105T>G (p.Leu1035=)
c.3153T>G (p.Leu1051=)
c.3213T>G (p.Leu1071=)
c.2763T>G (p.Leu921=)
c.1065T>G (p.Leu355=)
c.882T>G (p.Leu294=)
c.3114T>G (p.Leu1038=)
c.3066T>G (p.Leu1022=)
c.2835T>G (p.Leu945=)
c.2736T>G (p.Leu912=)
c.1917T>G (p.Leu639=)
n.3468T>G
13g.51942549A>GCA483894530ATP7Bc.*899T>C (n.*899T>C)
c.*1993T>C (n.*1993T>C)
c.2628T>C (p.Leu876=)
c.3249T>C (p.Leu1083=)
c.2916T>C (p.Leu972=)
c.2997T>C (p.Leu999=)
c.3015T>C (p.Leu1005=)
n.3388T>C
n.3612T>C
c.2184T>C (p.Leu728=)
c.1959T>C (p.Leu653=)
c.3054T>C (p.Leu1018=)
c.1027T>C
c.*350T>C (n.*350T>C)
n.3993T>C
n.2594T>C
c.3105T>C (p.Leu1035=)
c.3153T>C (p.Leu1051=)
c.3213T>C (p.Leu1071=)
c.2763T>C (p.Leu921=)
c.1065T>C (p.Leu355=)
c.882T>C (p.Leu294=)
c.3114T>C (p.Leu1038=)
c.3066T>C (p.Leu1022=)
c.2835T>C (p.Leu945=)
c.2736T>C (p.Leu912=)
c.1917T>C (p.Leu639=)
n.3468T>C
13g.51942549A>TCA483894532ATP7Bc.*899T>A (n.*899T>A)
c.*1993T>A (n.*1993T>A)
c.2628T>A (p.Leu876=)
c.3249T>A (p.Leu1083=)
c.2916T>A (p.Leu972=)
c.2997T>A (p.Leu999=)
c.3015T>A (p.Leu1005=)
n.3388T>A
n.3612T>A
c.2184T>A (p.Leu728=)
c.1959T>A (p.Leu653=)
c.3054T>A (p.Leu1018=)
c.1027T>A
c.*350T>A (n.*350T>A)
n.3993T>A
n.2594T>A
c.3105T>A (p.Leu1035=)
c.3153T>A (p.Leu1051=)
c.3213T>A (p.Leu1071=)
c.2763T>A (p.Leu921=)
c.1065T>A (p.Leu355=)
c.882T>A (p.Leu294=)
c.3114T>A (p.Leu1038=)
c.3066T>A (p.Leu1022=)
c.2835T>A (p.Leu945=)
c.2736T>A (p.Leu912=)
c.1917T>A (p.Leu639=)
n.3468T>A
13g.51942550A>CCA388029008ATP7Bc.*898T>G (n.*898T>G)
c.*1992T>G (n.*1992T>G)
c.2627T>G (p.Leu876Arg)
c.3248T>G (p.Leu1083Arg)
c.2915T>G (p.Leu972Arg)
c.2996T>G (p.Leu999Arg)
c.3014T>G (p.Leu1005Arg)
n.3387T>G
n.3611T>G
c.2183T>G (p.Leu728Arg)
c.1958T>G (p.Leu653Arg)
c.3053T>G (p.Leu1018Arg)
c.1026T>G
c.*349T>G (n.*349T>G)
n.3992T>G
n.2593T>G
c.3104T>G (p.Leu1035Arg)
c.3152T>G (p.Leu1051Arg)
c.3212T>G (p.Leu1071Arg)
c.2762T>G (p.Leu921Arg)
c.1064T>G (p.Leu355Arg)
c.881T>G (p.Leu294Arg)
c.3113T>G (p.Leu1038Arg)
c.3065T>G (p.Leu1022Arg)
c.2834T>G (p.Leu945Arg)
c.2735T>G (p.Leu912Arg)
c.1916T>G (p.Leu639Arg)
n.3467T>G
13g.51942550A>GCA388029011ATP7Bc.*898T>C (n.*898T>C)
c.*1992T>C (n.*1992T>C)
c.2627T>C (p.Leu876Pro)
c.3248T>C (p.Leu1083Pro)
c.2915T>C (p.Leu972Pro)
c.2996T>C (p.Leu999Pro)
c.3014T>C (p.Leu1005Pro)
n.3387T>C
n.3611T>C
c.2183T>C (p.Leu728Pro)
c.1958T>C (p.Leu653Pro)
c.3053T>C (p.Leu1018Pro)
c.1026T>C
c.*349T>C (n.*349T>C)
n.3992T>C
n.2593T>C
c.3104T>C (p.Leu1035Pro)
c.3152T>C (p.Leu1051Pro)
c.3212T>C (p.Leu1071Pro)
c.2762T>C (p.Leu921Pro)
c.1064T>C (p.Leu355Pro)
c.881T>C (p.Leu294Pro)
c.3113T>C (p.Leu1038Pro)
c.3065T>C (p.Leu1022Pro)
c.2834T>C (p.Leu945Pro)
c.2735T>C (p.Leu912Pro)
c.1916T>C (p.Leu639Pro)
n.3467T>C
13g.51942550A>TCA388029019ATP7Bc.*898T>A (n.*898T>A)
c.*1992T>A (n.*1992T>A)
c.2627T>A (p.Leu876His)
c.3248T>A (p.Leu1083His)
c.2915T>A (p.Leu972His)
c.2996T>A (p.Leu999His)
c.3014T>A (p.Leu1005His)
n.3387T>A
n.3611T>A
c.2183T>A (p.Leu728His)
c.1958T>A (p.Leu653His)
c.3053T>A (p.Leu1018His)
c.1026T>A
c.*349T>A (n.*349T>A)
n.3992T>A
n.2593T>A
c.3104T>A (p.Leu1035His)
c.3152T>A (p.Leu1051His)
c.3212T>A (p.Leu1071His)
c.2762T>A (p.Leu921His)
c.1064T>A (p.Leu355His)
c.881T>A (p.Leu294His)
c.3113T>A (p.Leu1038His)
c.3065T>A (p.Leu1022His)
c.2834T>A (p.Leu945His)
c.2735T>A (p.Leu912His)
c.1916T>A (p.Leu639His)
n.3467T>A
13g.51942551G>ACA388029024ATP7Bc.*897C>T (n.*897C>T)
c.*1991C>T (n.*1991C>T)
c.2626C>T (p.Leu876Phe)
c.3247C>T (p.Leu1083Phe)
c.2914C>T (p.Leu972Phe)
c.2995C>T (p.Leu999Phe)
c.3013C>T (p.Leu1005Phe)
n.3386C>T
n.3610C>T
c.2182C>T (p.Leu728Phe)
c.1957C>T (p.Leu653Phe)
c.3052C>T (p.Leu1018Phe)
c.1025C>T
c.*348C>T (n.*348C>T)
n.3991C>T
n.2592C>T
c.3103C>T (p.Leu1035Phe)
c.3151C>T (p.Leu1051Phe)
c.3211C>T (p.Leu1071Phe)
c.2761C>T (p.Leu921Phe)
c.1063C>T (p.Leu355Phe)
c.880C>T (p.Leu294Phe)
c.3112C>T (p.Leu1038Phe)
c.3064C>T (p.Leu1022Phe)
c.2833C>T (p.Leu945Phe)
c.2734C>T (p.Leu912Phe)
c.1915C>T (p.Leu639Phe)
n.3466C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51942551G>CCA388029025ATP7Bc.*897C>G (n.*897C>G)
c.*1991C>G (n.*1991C>G)
c.2626C>G (p.Leu876Val)
c.3247C>G (p.Leu1083Val)
c.2914C>G (p.Leu972Val)
c.2995C>G (p.Leu999Val)
c.3013C>G (p.Leu1005Val)
n.3386C>G
n.3610C>G
c.2182C>G (p.Leu728Val)
c.1957C>G (p.Leu653Val)
c.3052C>G (p.Leu1018Val)
c.1025C>G
c.*348C>G (n.*348C>G)
n.3991C>G
n.2592C>G
c.3103C>G (p.Leu1035Val)
c.3151C>G (p.Leu1051Val)
c.3211C>G (p.Leu1071Val)
c.2761C>G (p.Leu921Val)
c.1063C>G (p.Leu355Val)
c.880C>G (p.Leu294Val)
c.3112C>G (p.Leu1038Val)
c.3064C>G (p.Leu1022Val)
c.2833C>G (p.Leu945Val)
c.2734C>G (p.Leu912Val)
c.1915C>G (p.Leu639Val)
n.3466C>G
 dbSNP gnomAD v2 gnomAD v4
13g.51942551G=CA2091561674ATP7Bc.*897C= (n.*897C=)
c.*1991C= (n.*1991C=)
c.2626C= (p.Leu876=)
c.3247C= (p.Leu1083=)
c.2914C= (p.Leu972=)
c.2995C= (p.Leu999=)
c.3013C= (p.Leu1005=)
n.3386C=
n.3610C=
c.2182C= (p.Leu728=)
c.1957C= (p.Leu653=)
c.3052C= (p.Leu1018=)
c.1025C=
c.*348C= (n.*348C=)
n.3991C=
n.2592C=
c.3103C= (p.Leu1035=)
c.3151C= (p.Leu1051=)
c.3211C= (p.Leu1071=)
c.2761C= (p.Leu921=)
c.1063C= (p.Leu355=)
c.880C= (p.Leu294=)
c.3112C= (p.Leu1038=)
c.3064C= (p.Leu1022=)
c.2833C= (p.Leu945=)
c.2734C= (p.Leu912=)
c.1915C= (p.Leu639=)
n.3466C=
13g.51942551G>TCA388029026ATP7Bc.*897C>A (n.*897C>A)
c.*1991C>A (n.*1991C>A)
c.2626C>A (p.Leu876Ile)
c.3247C>A (p.Leu1083Ile)
c.2914C>A (p.Leu972Ile)
c.2995C>A (p.Leu999Ile)
c.3013C>A (p.Leu1005Ile)
n.3386C>A
n.3610C>A
c.2182C>A (p.Leu728Ile)
c.1957C>A (p.Leu653Ile)
c.3052C>A (p.Leu1018Ile)
c.1025C>A
c.*348C>A (n.*348C>A)
n.3991C>A
n.2592C>A
c.3103C>A (p.Leu1035Ile)
c.3151C>A (p.Leu1051Ile)
c.3211C>A (p.Leu1071Ile)
c.2761C>A (p.Leu921Ile)
c.1063C>A (p.Leu355Ile)
c.880C>A (p.Leu294Ile)
c.3112C>A (p.Leu1038Ile)
c.3064C>A (p.Leu1022Ile)
c.2833C>A (p.Leu945Ile)
c.2734C>A (p.Leu912Ile)
c.1915C>A (p.Leu639Ile)
n.3466C>A

Number of alleles fetched