Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51941111_51941115delCA2695199762ATP7Bc.*1174_*1178del (n.*1174_*1178del)
c.*2268_*2272del (n.*2268_*2272del)
c.2903_2907del (p.Lys968ThrfsTer9)
c.3524_3528del (p.Lys1175ThrfsTer9)
c.3191_3195del (p.Lys1064ThrfsTer9)
c.3272_3276del (p.Lys1091ThrfsTer9)
c.3290_3294del (p.Lys1097ThrfsTer9)
n.3663_3667del
n.3887_3891del
c.2459_2463del (p.Lys820ThrfsTer9)
c.2234_2238del (p.Lys745ThrfsTer9)
c.3329_3333del (p.Lys1110ThrfsTer9)
c.1302_1306del
c.*625_*629del (n.*625_*629del)
n.4268_4272del
n.2869_2873del
c.3380_3384del (p.Lys1127ThrfsTer9)
c.3428_3432del (p.Lys1143ThrfsTer9)
c.3488_3492del (p.Lys1163ThrfsTer9)
c.3038_3042del (p.Lys1013ThrfsTer9)
c.1340_1344del (p.Lys447ThrfsTer9)
c.1157_1161del (p.Lys386ThrfsTer9)
c.3389_3393del (p.Lys1130ThrfsTer9)
c.3341_3345del (p.Lys1114ThrfsTer9)
c.3110_3114del (p.Lys1037ThrfsTer9)
c.3011_3015del (p.Lys1004ThrfsTer9)
c.2192_2196del (p.Lys731ThrfsTer9)
n.3743_3747del
 ClinVar
13g.51941111C>ACA270738ATP7Bc.*1176G>T (n.*1176G>T)
c.*2270G>T (n.*2270G>T)
c.2905G>T (p.Gly969Ter)
c.3526G>T (p.Gly1176Ter)
c.3193G>T (p.Gly1065Ter)
c.3274G>T (p.Gly1092Ter)
c.3292G>T (p.Gly1098Ter)
n.3665G>T
n.3889G>T
c.2461G>T (p.Gly821Ter)
c.2236G>T (p.Gly746Ter)
c.3331G>T (p.Gly1111Ter)
c.1304G>T
c.*627G>T (n.*627G>T)
n.4270G>T
n.2871G>T
c.3382G>T (p.Gly1128Ter)
c.3430G>T (p.Gly1144Ter)
c.3490G>T (p.Gly1164Ter)
c.3040G>T (p.Gly1014Ter)
c.1342G>T (p.Gly448Ter)
c.1159G>T (p.Gly387Ter)
c.3391G>T (p.Gly1131Ter)
c.3343G>T (p.Gly1115Ter)
c.3112G>T (p.Gly1038Ter)
c.3013G>T (p.Gly1005Ter)
c.2194G>T (p.Gly732Ter)
n.3745G>T
 dbSNP
13g.51941111C=CA2091559378ATP7Bc.*1176G= (n.*1176G=)
c.*2270G= (n.*2270G=)
c.2905G= (p.Gly969=)
c.3526G= (p.Gly1176=)
c.3193G= (p.Gly1065=)
c.3274G= (p.Gly1092=)
c.3292G= (p.Gly1098=)
n.3665G=
n.3889G=
c.2461G= (p.Gly821=)
c.2236G= (p.Gly746=)
c.3331G= (p.Gly1111=)
c.1304G=
c.*627G= (n.*627G=)
n.4270G=
n.2871G=
c.3382G= (p.Gly1128=)
c.3430G= (p.Gly1144=)
c.3490G= (p.Gly1164=)
c.3040G= (p.Gly1014=)
c.1342G= (p.Gly448=)
c.1159G= (p.Gly387=)
c.3391G= (p.Gly1131=)
c.3343G= (p.Gly1115=)
c.3112G= (p.Gly1038=)
c.3013G= (p.Gly1005=)
c.2194G= (p.Gly732=)
n.3745G=
13g.51941111C>GCA388026079ATP7Bc.*1176G>C (n.*1176G>C)
c.*2270G>C (n.*2270G>C)
c.2905G>C (p.Gly969Arg)
c.3526G>C (p.Gly1176Arg)
c.3193G>C (p.Gly1065Arg)
c.3274G>C (p.Gly1092Arg)
c.3292G>C (p.Gly1098Arg)
n.3665G>C
n.3889G>C
c.2461G>C (p.Gly821Arg)
c.2236G>C (p.Gly746Arg)
c.3331G>C (p.Gly1111Arg)
c.1304G>C
c.*627G>C (n.*627G>C)
n.4270G>C
n.2871G>C
c.3382G>C (p.Gly1128Arg)
c.3430G>C (p.Gly1144Arg)
c.3490G>C (p.Gly1164Arg)
c.3040G>C (p.Gly1014Arg)
c.1342G>C (p.Gly448Arg)
c.1159G>C (p.Gly387Arg)
c.3391G>C (p.Gly1131Arg)
c.3343G>C (p.Gly1115Arg)
c.3112G>C (p.Gly1038Arg)
c.3013G>C (p.Gly1005Arg)
c.2194G>C (p.Gly732Arg)
n.3745G>C
13g.51941111C>TCA351338ATP7Bc.*1176G>A (n.*1176G>A)
c.*2270G>A (n.*2270G>A)
c.2905G>A (p.Gly969Arg)
c.3526G>A (p.Gly1176Arg)
c.3193G>A (p.Gly1065Arg)
c.3274G>A (p.Gly1092Arg)
c.3292G>A (p.Gly1098Arg)
n.3665G>A
n.3889G>A
c.2461G>A (p.Gly821Arg)
c.2236G>A (p.Gly746Arg)
c.3331G>A (p.Gly1111Arg)
c.1304G>A
c.*627G>A (n.*627G>A)
n.4270G>A
n.2871G>A
c.3382G>A (p.Gly1128Arg)
c.3430G>A (p.Gly1144Arg)
c.3490G>A (p.Gly1164Arg)
c.3040G>A (p.Gly1014Arg)
c.1342G>A (p.Gly448Arg)
c.1159G>A (p.Gly387Arg)
c.3391G>A (p.Gly1131Arg)
c.3343G>A (p.Gly1115Arg)
c.3112G>A (p.Gly1038Arg)
c.3013G>A (p.Gly1005Arg)
c.2194G>A (p.Gly732Arg)
n.3745G>A
 ClinVar dbSNP
13g.[51941111C>T;51941194A>G]CA351339ATP7Bc.[*1093T>C;*1176G>A] (n.[*1093T>C;*1176G>A])
c.[*2187T>C;*2270G>A] (n.[*2187T>C;*2270G>A])
c.[2822T>C;2905G>A] (p.[Ile941Thr;Gly969Arg])
c.[3443T>C;3526G>A] (p.[Ile1148Thr;Gly1176Arg])
c.[3110T>C;3193G>A] (p.[Ile1037Thr;Gly1065Arg])
c.[3191T>C;3274G>A] (p.[Ile1064Thr;Gly1092Arg])
c.[3209T>C;3292G>A] (p.[Ile1070Thr;Gly1098Arg])
n.[3582T>C;3665G>A]
n.[3806T>C;3889G>A]
c.[2378T>C;2461G>A] (p.[Ile793Thr;Gly821Arg])
c.[2153T>C;2236G>A] (p.[Ile718Thr;Gly746Arg])
c.[3248T>C;3331G>A] (p.[Ile1083Thr;Gly1111Arg])
c.[1221T>C;1304G>A]
c.[*544T>C;*627G>A] (n.[*544T>C;*627G>A])
n.[4187T>C;4270G>A]
n.[2788T>C;2871G>A]
c.[3299T>C;3382G>A] (p.[Ile1100Thr;Gly1128Arg])
c.[3347T>C;3430G>A] (p.[Ile1116Thr;Gly1144Arg])
c.[3407T>C;3490G>A] (p.[Ile1136Thr;Gly1164Arg])
c.[2957T>C;3040G>A] (p.[Ile986Thr;Gly1014Arg])
c.[1259T>C;1342G>A] (p.[Ile420Thr;Gly448Arg])
c.[1076T>C;1159G>A] (p.[Ile359Thr;Gly387Arg])
c.[3308T>C;3391G>A] (p.[Ile1103Thr;Gly1131Arg])
c.[3260T>C;3343G>A] (p.[Ile1087Thr;Gly1115Arg])
c.[3029T>C;3112G>A] (p.[Ile1010Thr;Gly1038Arg])
c.[2930T>C;3013G>A] (p.[Ile977Thr;Gly1005Arg])
c.[2111T>C;2194G>A] (p.[Ile704Thr;Gly732Arg])
n.[3662T>C;3745G>A]
 ClinVar
13g.51941112T>ACA388026086ATP7Bc.*1175A>T (n.*1175A>T)
c.*2269A>T (n.*2269A>T)
c.2904A>T (p.Lys968Asn)
c.3525A>T (p.Lys1175Asn)
c.3192A>T (p.Lys1064Asn)
c.3273A>T (p.Lys1091Asn)
c.3291A>T (p.Lys1097Asn)
n.3664A>T
n.3888A>T
c.2460A>T (p.Lys820Asn)
c.2235A>T (p.Lys745Asn)
c.3330A>T (p.Lys1110Asn)
c.1303A>T
c.*626A>T (n.*626A>T)
n.4269A>T
n.2870A>T
c.3381A>T (p.Lys1127Asn)
c.3429A>T (p.Lys1143Asn)
c.3489A>T (p.Lys1163Asn)
c.3039A>T (p.Lys1013Asn)
c.1341A>T (p.Lys447Asn)
c.1158A>T (p.Lys386Asn)
c.3390A>T (p.Lys1130Asn)
c.3342A>T (p.Lys1114Asn)
c.3111A>T (p.Lys1037Asn)
c.3012A>T (p.Lys1004Asn)
c.2193A>T (p.Lys731Asn)
n.3744A>T
13g.51941112T>CCA483893944ATP7Bc.*1175A>G (n.*1175A>G)
c.*2269A>G (n.*2269A>G)
c.2904A>G (p.Lys968=)
c.3525A>G (p.Lys1175=)
c.3192A>G (p.Lys1064=)
c.3273A>G (p.Lys1091=)
c.3291A>G (p.Lys1097=)
n.3664A>G
n.3888A>G
c.2460A>G (p.Lys820=)
c.2235A>G (p.Lys745=)
c.3330A>G (p.Lys1110=)
c.1303A>G
c.*626A>G (n.*626A>G)
n.4269A>G
n.2870A>G
c.3381A>G (p.Lys1127=)
c.3429A>G (p.Lys1143=)
c.3489A>G (p.Lys1163=)
c.3039A>G (p.Lys1013=)
c.1341A>G (p.Lys447=)
c.1158A>G (p.Lys386=)
c.3390A>G (p.Lys1130=)
c.3342A>G (p.Lys1114=)
c.3111A>G (p.Lys1037=)
c.3012A>G (p.Lys1004=)
c.2193A>G (p.Lys731=)
n.3744A>G
 dbSNP
13g.51941112T>GCA388026089ATP7Bc.*1175A>C (n.*1175A>C)
c.*2269A>C (n.*2269A>C)
c.2904A>C (p.Lys968Asn)
c.3525A>C (p.Lys1175Asn)
c.3192A>C (p.Lys1064Asn)
c.3273A>C (p.Lys1091Asn)
c.3291A>C (p.Lys1097Asn)
n.3664A>C
n.3888A>C
c.2460A>C (p.Lys820Asn)
c.2235A>C (p.Lys745Asn)
c.3330A>C (p.Lys1110Asn)
c.1303A>C
c.*626A>C (n.*626A>C)
n.4269A>C
n.2870A>C
c.3381A>C (p.Lys1127Asn)
c.3429A>C (p.Lys1143Asn)
c.3489A>C (p.Lys1163Asn)
c.3039A>C (p.Lys1013Asn)
c.1341A>C (p.Lys447Asn)
c.1158A>C (p.Lys386Asn)
c.3390A>C (p.Lys1130Asn)
c.3342A>C (p.Lys1114Asn)
c.3111A>C (p.Lys1037Asn)
c.3012A>C (p.Lys1004Asn)
c.2193A>C (p.Lys731Asn)
n.3744A>C
13g.51941112T=CA2091559382ATP7Bc.*1175A= (n.*1175A=)
c.*2269A= (n.*2269A=)
c.2904A= (p.Lys968=)
c.3525A= (p.Lys1175=)
c.3192A= (p.Lys1064=)
c.3273A= (p.Lys1091=)
c.3291A= (p.Lys1097=)
n.3664A=
n.3888A=
c.2460A= (p.Lys820=)
c.2235A= (p.Lys745=)
c.3330A= (p.Lys1110=)
c.1303A=
c.*626A= (n.*626A=)
n.4269A=
n.2870A=
c.3381A= (p.Lys1127=)
c.3429A= (p.Lys1143=)
c.3489A= (p.Lys1163=)
c.3039A= (p.Lys1013=)
c.1341A= (p.Lys447=)
c.1158A= (p.Lys386=)
c.3390A= (p.Lys1130=)
c.3342A= (p.Lys1114=)
c.3111A= (p.Lys1037=)
c.3012A= (p.Lys1004=)
c.2193A= (p.Lys731=)
n.3744A=
13g.51941113T>ACA388026099ATP7Bc.*1174A>T (n.*1174A>T)
c.*2268A>T (n.*2268A>T)
c.2903A>T (p.Lys968Ile)
c.3524A>T (p.Lys1175Ile)
c.3191A>T (p.Lys1064Ile)
c.3272A>T (p.Lys1091Ile)
c.3290A>T (p.Lys1097Ile)
n.3663A>T
n.3887A>T
c.2459A>T (p.Lys820Ile)
c.2234A>T (p.Lys745Ile)
c.3329A>T (p.Lys1110Ile)
c.1302A>T
c.*625A>T (n.*625A>T)
n.4268A>T
n.2869A>T
c.3380A>T (p.Lys1127Ile)
c.3428A>T (p.Lys1143Ile)
c.3488A>T (p.Lys1163Ile)
c.3038A>T (p.Lys1013Ile)
c.1340A>T (p.Lys447Ile)
c.1157A>T (p.Lys386Ile)
c.3389A>T (p.Lys1130Ile)
c.3341A>T (p.Lys1114Ile)
c.3110A>T (p.Lys1037Ile)
c.3011A>T (p.Lys1004Ile)
c.2192A>T (p.Lys731Ile)
n.3743A>T
13g.51941113T>CCA388026093ATP7Bc.*1174A>G (n.*1174A>G)
c.*2268A>G (n.*2268A>G)
c.2903A>G (p.Lys968Arg)
c.3524A>G (p.Lys1175Arg)
c.3191A>G (p.Lys1064Arg)
c.3272A>G (p.Lys1091Arg)
c.3290A>G (p.Lys1097Arg)
n.3663A>G
n.3887A>G
c.2459A>G (p.Lys820Arg)
c.2234A>G (p.Lys745Arg)
c.3329A>G (p.Lys1110Arg)
c.1302A>G
c.*625A>G (n.*625A>G)
n.4268A>G
n.2869A>G
c.3380A>G (p.Lys1127Arg)
c.3428A>G (p.Lys1143Arg)
c.3488A>G (p.Lys1163Arg)
c.3038A>G (p.Lys1013Arg)
c.1340A>G (p.Lys447Arg)
c.1157A>G (p.Lys386Arg)
c.3389A>G (p.Lys1130Arg)
c.3341A>G (p.Lys1114Arg)
c.3110A>G (p.Lys1037Arg)
c.3011A>G (p.Lys1004Arg)
c.2192A>G (p.Lys731Arg)
n.3743A>G
 gnomAD v4
13g.51941113T>GCA250077133ATP7Bc.*1174A>C (n.*1174A>C)
c.*2268A>C (n.*2268A>C)
c.2903A>C (p.Lys968Thr)
c.3524A>C (p.Lys1175Thr)
c.3191A>C (p.Lys1064Thr)
c.3272A>C (p.Lys1091Thr)
c.3290A>C (p.Lys1097Thr)
n.3663A>C
n.3887A>C
c.2459A>C (p.Lys820Thr)
c.2234A>C (p.Lys745Thr)
c.3329A>C (p.Lys1110Thr)
c.1302A>C
c.*625A>C (n.*625A>C)
n.4268A>C
n.2869A>C
c.3380A>C (p.Lys1127Thr)
c.3428A>C (p.Lys1143Thr)
c.3488A>C (p.Lys1163Thr)
c.3038A>C (p.Lys1013Thr)
c.1340A>C (p.Lys447Thr)
c.1157A>C (p.Lys386Thr)
c.3389A>C (p.Lys1130Thr)
c.3341A>C (p.Lys1114Thr)
c.3110A>C (p.Lys1037Thr)
c.3011A>C (p.Lys1004Thr)
c.2192A>C (p.Lys731Thr)
n.3743A>C
 dbSNP gnomAD v3 gnomAD v4
13g.51941113T=CA2091559383ATP7Bc.*1174A= (n.*1174A=)
c.*2268A= (n.*2268A=)
c.2903A= (p.Lys968=)
c.3524A= (p.Lys1175=)
c.3191A= (p.Lys1064=)
c.3272A= (p.Lys1091=)
c.3290A= (p.Lys1097=)
n.3663A=
n.3887A=
c.2459A= (p.Lys820=)
c.2234A= (p.Lys745=)
c.3329A= (p.Lys1110=)
c.1302A=
c.*625A= (n.*625A=)
n.4268A=
n.2869A=
c.3380A= (p.Lys1127=)
c.3428A= (p.Lys1143=)
c.3488A= (p.Lys1163=)
c.3038A= (p.Lys1013=)
c.1340A= (p.Lys447=)
c.1157A= (p.Lys386=)
c.3389A= (p.Lys1130=)
c.3341A= (p.Lys1114=)
c.3110A= (p.Lys1037=)
c.3011A= (p.Lys1004=)
c.2192A= (p.Lys731=)
n.3743A=
13g.51941114T>ACA388026103ATP7Bc.*1173A>T (n.*1173A>T)
c.*2267A>T (n.*2267A>T)
c.2902A>T (p.Lys968Ter)
c.3523A>T (p.Lys1175Ter)
c.3190A>T (p.Lys1064Ter)
c.3271A>T (p.Lys1091Ter)
c.3289A>T (p.Lys1097Ter)
n.3662A>T
n.3886A>T
c.2458A>T (p.Lys820Ter)
c.2233A>T (p.Lys745Ter)
c.3328A>T (p.Lys1110Ter)
c.1301A>T
c.*624A>T (n.*624A>T)
n.4267A>T
n.2868A>T
c.3379A>T (p.Lys1127Ter)
c.3427A>T (p.Lys1143Ter)
c.3487A>T (p.Lys1163Ter)
c.3037A>T (p.Lys1013Ter)
c.1339A>T (p.Lys447Ter)
c.1156A>T (p.Lys386Ter)
c.3388A>T (p.Lys1130Ter)
c.3340A>T (p.Lys1114Ter)
c.3109A>T (p.Lys1037Ter)
c.3010A>T (p.Lys1004Ter)
c.2191A>T (p.Lys731Ter)
n.3742A>T
 ClinVar dbSNP
13g.51941114T>CCA388026112ATP7Bc.*1173A>G (n.*1173A>G)
c.*2267A>G (n.*2267A>G)
c.2902A>G (p.Lys968Glu)
c.3523A>G (p.Lys1175Glu)
c.3190A>G (p.Lys1064Glu)
c.3271A>G (p.Lys1091Glu)
c.3289A>G (p.Lys1097Glu)
n.3662A>G
n.3886A>G
c.2458A>G (p.Lys820Glu)
c.2233A>G (p.Lys745Glu)
c.3328A>G (p.Lys1110Glu)
c.1301A>G
c.*624A>G (n.*624A>G)
n.4267A>G
n.2868A>G
c.3379A>G (p.Lys1127Glu)
c.3427A>G (p.Lys1143Glu)
c.3487A>G (p.Lys1163Glu)
c.3037A>G (p.Lys1013Glu)
c.1339A>G (p.Lys447Glu)
c.1156A>G (p.Lys386Glu)
c.3388A>G (p.Lys1130Glu)
c.3340A>G (p.Lys1114Glu)
c.3109A>G (p.Lys1037Glu)
c.3010A>G (p.Lys1004Glu)
c.2191A>G (p.Lys731Glu)
n.3742A>G
13g.51941114T>GCA250077167ATP7Bc.*1173A>C (n.*1173A>C)
c.*2267A>C (n.*2267A>C)
c.2902A>C (p.Lys968Gln)
c.3523A>C (p.Lys1175Gln)
c.3190A>C (p.Lys1064Gln)
c.3271A>C (p.Lys1091Gln)
c.3289A>C (p.Lys1097Gln)
n.3662A>C
n.3886A>C
c.2458A>C (p.Lys820Gln)
c.2233A>C (p.Lys745Gln)
c.3328A>C (p.Lys1110Gln)
c.1301A>C
c.*624A>C (n.*624A>C)
n.4267A>C
n.2868A>C
c.3379A>C (p.Lys1127Gln)
c.3427A>C (p.Lys1143Gln)
c.3487A>C (p.Lys1163Gln)
c.3037A>C (p.Lys1013Gln)
c.1339A>C (p.Lys447Gln)
c.1156A>C (p.Lys386Gln)
c.3388A>C (p.Lys1130Gln)
c.3340A>C (p.Lys1114Gln)
c.3109A>C (p.Lys1037Gln)
c.3010A>C (p.Lys1004Gln)
c.2191A>C (p.Lys731Gln)
n.3742A>C
 ClinVar dbSNP
13g.51941114T=CA2091559389ATP7Bc.*1173A= (n.*1173A=)
c.*2267A= (n.*2267A=)
c.2902A= (p.Lys968=)
c.3523A= (p.Lys1175=)
c.3190A= (p.Lys1064=)
c.3271A= (p.Lys1091=)
c.3289A= (p.Lys1097=)
n.3662A=
n.3886A=
c.2458A= (p.Lys820=)
c.2233A= (p.Lys745=)
c.3328A= (p.Lys1110=)
c.1301A=
c.*624A= (n.*624A=)
n.4267A=
n.2868A=
c.3379A= (p.Lys1127=)
c.3427A= (p.Lys1143=)
c.3487A= (p.Lys1163=)
c.3037A= (p.Lys1013=)
c.1339A= (p.Lys447=)
c.1156A= (p.Lys386=)
c.3388A= (p.Lys1130=)
c.3340A= (p.Lys1114=)
c.3109A= (p.Lys1037=)
c.3010A= (p.Lys1004=)
c.2191A= (p.Lys731=)
n.3742A=
13g.51941115C>ACA388026116ATP7Bc.*1172G>T (n.*1172G>T)
c.*2266G>T (n.*2266G>T)
c.2901G>T (p.Met967Ile)
c.3522G>T (p.Met1174Ile)
c.3189G>T (p.Met1063Ile)
c.3270G>T (p.Met1090Ile)
c.3288G>T (p.Met1096Ile)
n.3661G>T
n.3885G>T
c.2457G>T (p.Met819Ile)
c.2232G>T (p.Met744Ile)
c.3327G>T (p.Met1109Ile)
c.1300G>T
c.*623G>T (n.*623G>T)
n.4266G>T
n.2867G>T
c.3378G>T (p.Met1126Ile)
c.3426G>T (p.Met1142Ile)
c.3486G>T (p.Met1162Ile)
c.3036G>T (p.Met1012Ile)
c.1338G>T (p.Met446Ile)
c.1155G>T (p.Met385Ile)
c.3387G>T (p.Met1129Ile)
c.3339G>T (p.Met1113Ile)
c.3108G>T (p.Met1036Ile)
c.3009G>T (p.Met1003Ile)
c.2190G>T (p.Met730Ile)
n.3741G>T
13g.51941115C>GCA388026123ATP7Bc.*1172G>C (n.*1172G>C)
c.*2266G>C (n.*2266G>C)
c.2901G>C (p.Met967Ile)
c.3522G>C (p.Met1174Ile)
c.3189G>C (p.Met1063Ile)
c.3270G>C (p.Met1090Ile)
c.3288G>C (p.Met1096Ile)
n.3661G>C
n.3885G>C
c.2457G>C (p.Met819Ile)
c.2232G>C (p.Met744Ile)
c.3327G>C (p.Met1109Ile)
c.1300G>C
c.*623G>C (n.*623G>C)
n.4266G>C
n.2867G>C
c.3378G>C (p.Met1126Ile)
c.3426G>C (p.Met1142Ile)
c.3486G>C (p.Met1162Ile)
c.3036G>C (p.Met1012Ile)
c.1338G>C (p.Met446Ile)
c.1155G>C (p.Met385Ile)
c.3387G>C (p.Met1129Ile)
c.3339G>C (p.Met1113Ile)
c.3108G>C (p.Met1036Ile)
c.3009G>C (p.Met1003Ile)
c.2190G>C (p.Met730Ile)
n.3741G>C
13g.51941115C>TCA388026127ATP7Bc.*1172G>A (n.*1172G>A)
c.*2266G>A (n.*2266G>A)
c.2901G>A (p.Met967Ile)
c.3522G>A (p.Met1174Ile)
c.3189G>A (p.Met1063Ile)
c.3270G>A (p.Met1090Ile)
c.3288G>A (p.Met1096Ile)
n.3661G>A
n.3885G>A
c.2457G>A (p.Met819Ile)
c.2232G>A (p.Met744Ile)
c.3327G>A (p.Met1109Ile)
c.1300G>A
c.*623G>A (n.*623G>A)
n.4266G>A
n.2867G>A
c.3378G>A (p.Met1126Ile)
c.3426G>A (p.Met1142Ile)
c.3486G>A (p.Met1162Ile)
c.3036G>A (p.Met1012Ile)
c.1338G>A (p.Met446Ile)
c.1155G>A (p.Met385Ile)
c.3387G>A (p.Met1129Ile)
c.3339G>A (p.Met1113Ile)
c.3108G>A (p.Met1036Ile)
c.3009G>A (p.Met1003Ile)
c.2190G>A (p.Met730Ile)
n.3741G>A
13g.51941116A>CCA388026128ATP7Bc.*1171T>G (n.*1171T>G)
c.*2265T>G (n.*2265T>G)
c.2900T>G (p.Met967Arg)
c.3521T>G (p.Met1174Arg)
c.3188T>G (p.Met1063Arg)
c.3269T>G (p.Met1090Arg)
c.3287T>G (p.Met1096Arg)
n.3660T>G
n.3884T>G
c.2456T>G (p.Met819Arg)
c.2231T>G (p.Met744Arg)
c.3326T>G (p.Met1109Arg)
c.1299T>G
c.*622T>G (n.*622T>G)
n.4265T>G
n.2866T>G
c.3377T>G (p.Met1126Arg)
c.3425T>G (p.Met1142Arg)
c.3485T>G (p.Met1162Arg)
c.3035T>G (p.Met1012Arg)
c.1337T>G (p.Met446Arg)
c.1154T>G (p.Met385Arg)
c.3386T>G (p.Met1129Arg)
c.3338T>G (p.Met1113Arg)
c.3107T>G (p.Met1036Arg)
c.3008T>G (p.Met1003Arg)
c.2189T>G (p.Met730Arg)
n.3740T>G
13g.51941116A>GCA388026131ATP7Bc.*1171T>C (n.*1171T>C)
c.*2265T>C (n.*2265T>C)
c.2900T>C (p.Met967Thr)
c.3521T>C (p.Met1174Thr)
c.3188T>C (p.Met1063Thr)
c.3269T>C (p.Met1090Thr)
c.3287T>C (p.Met1096Thr)
n.3660T>C
n.3884T>C
c.2456T>C (p.Met819Thr)
c.2231T>C (p.Met744Thr)
c.3326T>C (p.Met1109Thr)
c.1299T>C
c.*622T>C (n.*622T>C)
n.4265T>C
n.2866T>C
c.3377T>C (p.Met1126Thr)
c.3425T>C (p.Met1142Thr)
c.3485T>C (p.Met1162Thr)
c.3035T>C (p.Met1012Thr)
c.1337T>C (p.Met446Thr)
c.1154T>C (p.Met385Thr)
c.3386T>C (p.Met1129Thr)
c.3338T>C (p.Met1113Thr)
c.3107T>C (p.Met1036Thr)
c.3008T>C (p.Met1003Thr)
c.2189T>C (p.Met730Thr)
n.3740T>C
13g.51941116A>TCA388026129ATP7Bc.*1171T>A (n.*1171T>A)
c.*2265T>A (n.*2265T>A)
c.2900T>A (p.Met967Lys)
c.3521T>A (p.Met1174Lys)
c.3188T>A (p.Met1063Lys)
c.3269T>A (p.Met1090Lys)
c.3287T>A (p.Met1096Lys)
n.3660T>A
n.3884T>A
c.2456T>A (p.Met819Lys)
c.2231T>A (p.Met744Lys)
c.3326T>A (p.Met1109Lys)
c.1299T>A
c.*622T>A (n.*622T>A)
n.4265T>A
n.2866T>A
c.3377T>A (p.Met1126Lys)
c.3425T>A (p.Met1142Lys)
c.3485T>A (p.Met1162Lys)
c.3035T>A (p.Met1012Lys)
c.1337T>A (p.Met446Lys)
c.1154T>A (p.Met385Lys)
c.3386T>A (p.Met1129Lys)
c.3338T>A (p.Met1113Lys)
c.3107T>A (p.Met1036Lys)
c.3008T>A (p.Met1003Lys)
c.2189T>A (p.Met730Lys)
n.3740T>A
13g.51941117T>ACA388026133ATP7Bc.*1170A>T (n.*1170A>T)
c.*2264A>T (n.*2264A>T)
c.2899A>T (p.Met967Leu)
c.3520A>T (p.Met1174Leu)
c.3187A>T (p.Met1063Leu)
c.3268A>T (p.Met1090Leu)
c.3286A>T (p.Met1096Leu)
n.3659A>T
n.3883A>T
c.2455A>T (p.Met819Leu)
c.2230A>T (p.Met744Leu)
c.3325A>T (p.Met1109Leu)
c.1298A>T
c.*621A>T (n.*621A>T)
n.4264A>T
n.2865A>T
c.3376A>T (p.Met1126Leu)
c.3424A>T (p.Met1142Leu)
c.3484A>T (p.Met1162Leu)
c.3034A>T (p.Met1012Leu)
c.1336A>T (p.Met446Leu)
c.1153A>T (p.Met385Leu)
c.3385A>T (p.Met1129Leu)
c.3337A>T (p.Met1113Leu)
c.3106A>T (p.Met1036Leu)
c.3007A>T (p.Met1003Leu)
c.2188A>T (p.Met730Leu)
n.3739A>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
13g.51941117T>CCA6988666ATP7Bc.*1170A>G (n.*1170A>G)
c.*2264A>G (n.*2264A>G)
c.2899A>G (p.Met967Val)
c.3520A>G (p.Met1174Val)
c.3187A>G (p.Met1063Val)
c.3268A>G (p.Met1090Val)
c.3286A>G (p.Met1096Val)
n.3659A>G
n.3883A>G
c.2455A>G (p.Met819Val)
c.2230A>G (p.Met744Val)
c.3325A>G (p.Met1109Val)
c.1298A>G
c.*621A>G (n.*621A>G)
n.4264A>G
n.2865A>G
c.3376A>G (p.Met1126Val)
c.3424A>G (p.Met1142Val)
c.3484A>G (p.Met1162Val)
c.3034A>G (p.Met1012Val)
c.1336A>G (p.Met446Val)
c.1153A>G (p.Met385Val)
c.3385A>G (p.Met1129Val)
c.3337A>G (p.Met1113Val)
c.3106A>G (p.Met1036Val)
c.3007A>G (p.Met1003Val)
c.2188A>G (p.Met730Val)
n.3739A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51941117T>GCA388026139ATP7Bc.*1170A>C (n.*1170A>C)
c.*2264A>C (n.*2264A>C)
c.2899A>C (p.Met967Leu)
c.3520A>C (p.Met1174Leu)
c.3187A>C (p.Met1063Leu)
c.3268A>C (p.Met1090Leu)
c.3286A>C (p.Met1096Leu)
n.3659A>C
n.3883A>C
c.2455A>C (p.Met819Leu)
c.2230A>C (p.Met744Leu)
c.3325A>C (p.Met1109Leu)
c.1298A>C
c.*621A>C (n.*621A>C)
n.4264A>C
n.2865A>C
c.3376A>C (p.Met1126Leu)
c.3424A>C (p.Met1142Leu)
c.3484A>C (p.Met1162Leu)
c.3034A>C (p.Met1012Leu)
c.1336A>C (p.Met446Leu)
c.1153A>C (p.Met385Leu)
c.3385A>C (p.Met1129Leu)
c.3337A>C (p.Met1113Leu)
c.3106A>C (p.Met1036Leu)
c.3007A>C (p.Met1003Leu)
c.2188A>C (p.Met730Leu)
n.3739A>C
13g.51941117T=CA2091559393ATP7Bc.*1170A= (n.*1170A=)
c.*2264A= (n.*2264A=)
c.2899A= (p.Met967=)
c.3520A= (p.Met1174=)
c.3187A= (p.Met1063=)
c.3268A= (p.Met1090=)
c.3286A= (p.Met1096=)
n.3659A=
n.3883A=
c.2455A= (p.Met819=)
c.2230A= (p.Met744=)
c.3325A= (p.Met1109=)
c.1298A=
c.*621A= (n.*621A=)
n.4264A=
n.2865A=
c.3376A= (p.Met1126=)
c.3424A= (p.Met1142=)
c.3484A= (p.Met1162=)
c.3034A= (p.Met1012=)
c.1336A= (p.Met446=)
c.1153A= (p.Met385=)
c.3385A= (p.Met1129=)
c.3337A= (p.Met1113=)
c.3106A= (p.Met1036=)
c.3007A= (p.Met1003=)
c.2188A= (p.Met730=)
n.3739A=
13g.51941118C>ACA388026143ATP7Bc.*1169G>T (n.*1169G>T)
c.*2263G>T (n.*2263G>T)
c.2898G>T (p.Glu966Asp)
c.3519G>T (p.Glu1173Asp)
c.3186G>T (p.Glu1062Asp)
c.3267G>T (p.Glu1089Asp)
c.3285G>T (p.Glu1095Asp)
n.3658G>T
n.3882G>T
c.2454G>T (p.Glu818Asp)
c.2229G>T (p.Glu743Asp)
c.3324G>T (p.Glu1108Asp)
c.1297G>T
c.*620G>T (n.*620G>T)
n.4263G>T
n.2864G>T
c.3375G>T (p.Glu1125Asp)
c.3423G>T (p.Glu1141Asp)
c.3483G>T (p.Glu1161Asp)
c.3033G>T (p.Glu1011Asp)
c.1335G>T (p.Glu445Asp)
c.1152G>T (p.Glu384Asp)
c.3384G>T (p.Glu1128Asp)
c.3336G>T (p.Glu1112Asp)
c.3105G>T (p.Glu1035Asp)
c.3006G>T (p.Glu1002Asp)
c.2187G>T (p.Glu729Asp)
n.3738G>T
13g.51941118C>GCA388026144ATP7Bc.*1169G>C (n.*1169G>C)
c.*2263G>C (n.*2263G>C)
c.2898G>C (p.Glu966Asp)
c.3519G>C (p.Glu1173Asp)
c.3186G>C (p.Glu1062Asp)
c.3267G>C (p.Glu1089Asp)
c.3285G>C (p.Glu1095Asp)
n.3658G>C
n.3882G>C
c.2454G>C (p.Glu818Asp)
c.2229G>C (p.Glu743Asp)
c.3324G>C (p.Glu1108Asp)
c.1297G>C
c.*620G>C (n.*620G>C)
n.4263G>C
n.2864G>C
c.3375G>C (p.Glu1125Asp)
c.3423G>C (p.Glu1141Asp)
c.3483G>C (p.Glu1161Asp)
c.3033G>C (p.Glu1011Asp)
c.1335G>C (p.Glu445Asp)
c.1152G>C (p.Glu384Asp)
c.3384G>C (p.Glu1128Asp)
c.3336G>C (p.Glu1112Asp)
c.3105G>C (p.Glu1035Asp)
c.3006G>C (p.Glu1002Asp)
c.2187G>C (p.Glu729Asp)
n.3738G>C
13g.51941118C>TCA483893945ATP7Bc.*1169G>A (n.*1169G>A)
c.*2263G>A (n.*2263G>A)
c.2898G>A (p.Glu966=)
c.3519G>A (p.Glu1173=)
c.3186G>A (p.Glu1062=)
c.3267G>A (p.Glu1089=)
c.3285G>A (p.Glu1095=)
n.3658G>A
n.3882G>A
c.2454G>A (p.Glu818=)
c.2229G>A (p.Glu743=)
c.3324G>A (p.Glu1108=)
c.1297G>A
c.*620G>A (n.*620G>A)
n.4263G>A
n.2864G>A
c.3375G>A (p.Glu1125=)
c.3423G>A (p.Glu1141=)
c.3483G>A (p.Glu1161=)
c.3033G>A (p.Glu1011=)
c.1335G>A (p.Glu445=)
c.1152G>A (p.Glu384=)
c.3384G>A (p.Glu1128=)
c.3336G>A (p.Glu1112=)
c.3105G>A (p.Glu1035=)
c.3006G>A (p.Glu1002=)
c.2187G>A (p.Glu729=)
n.3738G>A
 gnomAD v4
13g.51941119T>ACA388026145ATP7Bc.*1168A>T (n.*1168A>T)
c.*2262A>T (n.*2262A>T)
c.2897A>T (p.Glu966Val)
c.3518A>T (p.Glu1173Val)
c.3185A>T (p.Glu1062Val)
c.3266A>T (p.Glu1089Val)
c.3284A>T (p.Glu1095Val)
n.3657A>T
n.3881A>T
c.2453A>T (p.Glu818Val)
c.2228A>T (p.Glu743Val)
c.3323A>T (p.Glu1108Val)
c.1296A>T
c.*619A>T (n.*619A>T)
n.4262A>T
n.2863A>T
c.3374A>T (p.Glu1125Val)
c.3422A>T (p.Glu1141Val)
c.3482A>T (p.Glu1161Val)
c.3032A>T (p.Glu1011Val)
c.1334A>T (p.Glu445Val)
c.1151A>T (p.Glu384Val)
c.3383A>T (p.Glu1128Val)
c.3335A>T (p.Glu1112Val)
c.3104A>T (p.Glu1035Val)
c.3005A>T (p.Glu1002Val)
c.2186A>T (p.Glu729Val)
n.3737A>T
 gnomAD v4
13g.51941119T>CCA388026146ATP7Bc.*1168A>G (n.*1168A>G)
c.*2262A>G (n.*2262A>G)
c.2897A>G (p.Glu966Gly)
c.3518A>G (p.Glu1173Gly)
c.3185A>G (p.Glu1062Gly)
c.3266A>G (p.Glu1089Gly)
c.3284A>G (p.Glu1095Gly)
n.3657A>G
n.3881A>G
c.2453A>G (p.Glu818Gly)
c.2228A>G (p.Glu743Gly)
c.3323A>G (p.Glu1108Gly)
c.1296A>G
c.*619A>G (n.*619A>G)
n.4262A>G
n.2863A>G
c.3374A>G (p.Glu1125Gly)
c.3422A>G (p.Glu1141Gly)
c.3482A>G (p.Glu1161Gly)
c.3032A>G (p.Glu1011Gly)
c.1334A>G (p.Glu445Gly)
c.1151A>G (p.Glu384Gly)
c.3383A>G (p.Glu1128Gly)
c.3335A>G (p.Glu1112Gly)
c.3104A>G (p.Glu1035Gly)
c.3005A>G (p.Glu1002Gly)
c.2186A>G (p.Glu729Gly)
n.3737A>G
 gnomAD v4
13g.51941119T>GCA388026147ATP7Bc.*1168A>C (n.*1168A>C)
c.*2262A>C (n.*2262A>C)
c.2897A>C (p.Glu966Ala)
c.3518A>C (p.Glu1173Ala)
c.3185A>C (p.Glu1062Ala)
c.3266A>C (p.Glu1089Ala)
c.3284A>C (p.Glu1095Ala)
n.3657A>C
n.3881A>C
c.2453A>C (p.Glu818Ala)
c.2228A>C (p.Glu743Ala)
c.3323A>C (p.Glu1108Ala)
c.1296A>C
c.*619A>C (n.*619A>C)
n.4262A>C
n.2863A>C
c.3374A>C (p.Glu1125Ala)
c.3422A>C (p.Glu1141Ala)
c.3482A>C (p.Glu1161Ala)
c.3032A>C (p.Glu1011Ala)
c.1334A>C (p.Glu445Ala)
c.1151A>C (p.Glu384Ala)
c.3383A>C (p.Glu1128Ala)
c.3335A>C (p.Glu1112Ala)
c.3104A>C (p.Glu1035Ala)
c.3005A>C (p.Glu1002Ala)
c.2186A>C (p.Glu729Ala)
n.3737A>C
13g.51941120C>ACA388026150ATP7Bc.*1167G>T (n.*1167G>T)
c.*2261G>T (n.*2261G>T)
c.2896G>T (p.Glu966Ter)
c.3517G>T (p.Glu1173Ter)
c.3184G>T (p.Glu1062Ter)
c.3265G>T (p.Glu1089Ter)
c.3283G>T (p.Glu1095Ter)
n.3656G>T
n.3880G>T
c.2452G>T (p.Glu818Ter)
c.2227G>T (p.Glu743Ter)
c.3322G>T (p.Glu1108Ter)
c.1295G>T
c.*618G>T (n.*618G>T)
n.4261G>T
n.2862G>T
c.3373G>T (p.Glu1125Ter)
c.3421G>T (p.Glu1141Ter)
c.3481G>T (p.Glu1161Ter)
c.3031G>T (p.Glu1011Ter)
c.1333G>T (p.Glu445Ter)
c.1150G>T (p.Glu384Ter)
c.3382G>T (p.Glu1128Ter)
c.3334G>T (p.Glu1112Ter)
c.3103G>T (p.Glu1035Ter)
c.3004G>T (p.Glu1002Ter)
c.2185G>T (p.Glu729Ter)
n.3736G>T
13g.51941120C=CA2091559398ATP7Bc.*1167G= (n.*1167G=)
c.*2261G= (n.*2261G=)
c.2896G= (p.Glu966=)
c.3517G= (p.Glu1173=)
c.3184G= (p.Glu1062=)
c.3265G= (p.Glu1089=)
c.3283G= (p.Glu1095=)
n.3656G=
n.3880G=
c.2452G= (p.Glu818=)
c.2227G= (p.Glu743=)
c.3322G= (p.Glu1108=)
c.1295G=
c.*618G= (n.*618G=)
n.4261G=
n.2862G=
c.3373G= (p.Glu1125=)
c.3421G= (p.Glu1141=)
c.3481G= (p.Glu1161=)
c.3031G= (p.Glu1011=)
c.1333G= (p.Glu445=)
c.1150G= (p.Glu384=)
c.3382G= (p.Glu1128=)
c.3334G= (p.Glu1112=)
c.3103G= (p.Glu1035=)
c.3004G= (p.Glu1002=)
c.2185G= (p.Glu729=)
n.3736G=
13g.51941120C>GCA388026153ATP7Bc.*1167G>C (n.*1167G>C)
c.*2261G>C (n.*2261G>C)
c.2896G>C (p.Glu966Gln)
c.3517G>C (p.Glu1173Gln)
c.3184G>C (p.Glu1062Gln)
c.3265G>C (p.Glu1089Gln)
c.3283G>C (p.Glu1095Gln)
n.3656G>C
n.3880G>C
c.2452G>C (p.Glu818Gln)
c.2227G>C (p.Glu743Gln)
c.3322G>C (p.Glu1108Gln)
c.1295G>C
c.*618G>C (n.*618G>C)
n.4261G>C
n.2862G>C
c.3373G>C (p.Glu1125Gln)
c.3421G>C (p.Glu1141Gln)
c.3481G>C (p.Glu1161Gln)
c.3031G>C (p.Glu1011Gln)
c.1333G>C (p.Glu445Gln)
c.1150G>C (p.Glu384Gln)
c.3382G>C (p.Glu1128Gln)
c.3334G>C (p.Glu1112Gln)
c.3103G>C (p.Glu1035Gln)
c.3004G>C (p.Glu1002Gln)
c.2185G>C (p.Glu729Gln)
n.3736G>C
13g.51941120C>TCA274321ATP7Bc.*1167G>A (n.*1167G>A)
c.*2261G>A (n.*2261G>A)
c.2896G>A (p.Glu966Lys)
c.3517G>A (p.Glu1173Lys)
c.3184G>A (p.Glu1062Lys)
c.3265G>A (p.Glu1089Lys)
c.3283G>A (p.Glu1095Lys)
n.3656G>A
n.3880G>A
c.2452G>A (p.Glu818Lys)
c.2227G>A (p.Glu743Lys)
c.3322G>A (p.Glu1108Lys)
c.1295G>A
c.*618G>A (n.*618G>A)
n.4261G>A
n.2862G>A
c.3373G>A (p.Glu1125Lys)
c.3421G>A (p.Glu1141Lys)
c.3481G>A (p.Glu1161Lys)
c.3031G>A (p.Glu1011Lys)
c.1333G>A (p.Glu445Lys)
c.1150G>A (p.Glu384Lys)
c.3382G>A (p.Glu1128Lys)
c.3334G>A (p.Glu1112Lys)
c.3103G>A (p.Glu1035Lys)
c.3004G>A (p.Glu1002Lys)
c.2185G>A (p.Glu729Lys)
n.3736G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51941121G>ACA6988667ATP7Bc.*1166C>T (n.*1166C>T)
c.*2260C>T (n.*2260C>T)
c.2895C>T (p.His965=)
c.3516C>T (p.His1172=)
c.3183C>T (p.His1061=)
c.3264C>T (p.His1088=)
c.3282C>T (p.His1094=)
n.3655C>T
n.3879C>T
c.2451C>T (p.His817=)
c.2226C>T (p.His742=)
c.3321C>T (p.His1107=)
c.1294C>T
c.*617C>T (n.*617C>T)
n.4260C>T
n.2861C>T
c.3372C>T (p.His1124=)
c.3420C>T (p.His1140=)
c.3480C>T (p.His1160=)
c.3030C>T (p.His1010=)
c.1332C>T (p.His444=)
c.1149C>T (p.His383=)
c.3381C>T (p.His1127=)
c.3333C>T (p.His1111=)
c.3102C>T (p.His1034=)
c.3003C>T (p.His1001=)
c.2184C>T (p.His728=)
n.3735C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941121G>CCA388026177ATP7Bc.*1166C>G (n.*1166C>G)
c.*2260C>G (n.*2260C>G)
c.2895C>G (p.His965Gln)
c.3516C>G (p.His1172Gln)
c.3183C>G (p.His1061Gln)
c.3264C>G (p.His1088Gln)
c.3282C>G (p.His1094Gln)
n.3655C>G
n.3879C>G
c.2451C>G (p.His817Gln)
c.2226C>G (p.His742Gln)
c.3321C>G (p.His1107Gln)
c.1294C>G
c.*617C>G (n.*617C>G)
n.4260C>G
n.2861C>G
c.3372C>G (p.His1124Gln)
c.3420C>G (p.His1140Gln)
c.3480C>G (p.His1160Gln)
c.3030C>G (p.His1010Gln)
c.1332C>G (p.His444Gln)
c.1149C>G (p.His383Gln)
c.3381C>G (p.His1127Gln)
c.3333C>G (p.His1111Gln)
c.3102C>G (p.His1034Gln)
c.3003C>G (p.His1001Gln)
c.2184C>G (p.His728Gln)
n.3735C>G
13g.51941121G=CA2091559403ATP7Bc.*1166C= (n.*1166C=)
c.*2260C= (n.*2260C=)
c.2895C= (p.His965=)
c.3516C= (p.His1172=)
c.3183C= (p.His1061=)
c.3264C= (p.His1088=)
c.3282C= (p.His1094=)
n.3655C=
n.3879C=
c.2451C= (p.His817=)
c.2226C= (p.His742=)
c.3321C= (p.His1107=)
c.1294C=
c.*617C= (n.*617C=)
n.4260C=
n.2861C=
c.3372C= (p.His1124=)
c.3420C= (p.His1140=)
c.3480C= (p.His1160=)
c.3030C= (p.His1010=)
c.1332C= (p.His444=)
c.1149C= (p.His383=)
c.3381C= (p.His1127=)
c.3333C= (p.His1111=)
c.3102C= (p.His1034=)
c.3003C= (p.His1001=)
c.2184C= (p.His728=)
n.3735C=
13g.51941121G>TCA388026173ATP7Bc.*1166C>A (n.*1166C>A)
c.*2260C>A (n.*2260C>A)
c.2895C>A (p.His965Gln)
c.3516C>A (p.His1172Gln)
c.3183C>A (p.His1061Gln)
c.3264C>A (p.His1088Gln)
c.3282C>A (p.His1094Gln)
n.3655C>A
n.3879C>A
c.2451C>A (p.His817Gln)
c.2226C>A (p.His742Gln)
c.3321C>A (p.His1107Gln)
c.1294C>A
c.*617C>A (n.*617C>A)
n.4260C>A
n.2861C>A
c.3372C>A (p.His1124Gln)
c.3420C>A (p.His1140Gln)
c.3480C>A (p.His1160Gln)
c.3030C>A (p.His1010Gln)
c.1332C>A (p.His444Gln)
c.1149C>A (p.His383Gln)
c.3381C>A (p.His1127Gln)
c.3333C>A (p.His1111Gln)
c.3102C>A (p.His1034Gln)
c.3003C>A (p.His1001Gln)
c.2184C>A (p.His728Gln)
n.3735C>A
13g.51941122T>ACA388026180ATP7Bc.*1165A>T (n.*1165A>T)
c.*2259A>T (n.*2259A>T)
c.2894A>T (p.His965Leu)
c.3515A>T (p.His1172Leu)
c.3182A>T (p.His1061Leu)
c.3263A>T (p.His1088Leu)
c.3281A>T (p.His1094Leu)
n.3654A>T
n.3878A>T
c.2450A>T (p.His817Leu)
c.2225A>T (p.His742Leu)
c.3320A>T (p.His1107Leu)
c.1293A>T
c.*616A>T (n.*616A>T)
n.4259A>T
n.2860A>T
c.3371A>T (p.His1124Leu)
c.3419A>T (p.His1140Leu)
c.3479A>T (p.His1160Leu)
c.3029A>T (p.His1010Leu)
c.1331A>T (p.His444Leu)
c.1148A>T (p.His383Leu)
c.3380A>T (p.His1127Leu)
c.3332A>T (p.His1111Leu)
c.3101A>T (p.His1034Leu)
c.3002A>T (p.His1001Leu)
c.2183A>T (p.His728Leu)
n.3734A>T
13g.51941122T>CCA388026185ATP7Bc.*1165A>G (n.*1165A>G)
c.*2259A>G (n.*2259A>G)
c.2894A>G (p.His965Arg)
c.3515A>G (p.His1172Arg)
c.3182A>G (p.His1061Arg)
c.3263A>G (p.His1088Arg)
c.3281A>G (p.His1094Arg)
n.3654A>G
n.3878A>G
c.2450A>G (p.His817Arg)
c.2225A>G (p.His742Arg)
c.3320A>G (p.His1107Arg)
c.1293A>G
c.*616A>G (n.*616A>G)
n.4259A>G
n.2860A>G
c.3371A>G (p.His1124Arg)
c.3419A>G (p.His1140Arg)
c.3479A>G (p.His1160Arg)
c.3029A>G (p.His1010Arg)
c.1331A>G (p.His444Arg)
c.1148A>G (p.His383Arg)
c.3380A>G (p.His1127Arg)
c.3332A>G (p.His1111Arg)
c.3101A>G (p.His1034Arg)
c.3002A>G (p.His1001Arg)
c.2183A>G (p.His728Arg)
n.3734A>G
13g.51941122T>GCA388026183ATP7Bc.*1165A>C (n.*1165A>C)
c.*2259A>C (n.*2259A>C)
c.2894A>C (p.His965Pro)
c.3515A>C (p.His1172Pro)
c.3182A>C (p.His1061Pro)
c.3263A>C (p.His1088Pro)
c.3281A>C (p.His1094Pro)
n.3654A>C
n.3878A>C
c.2450A>C (p.His817Pro)
c.2225A>C (p.His742Pro)
c.3320A>C (p.His1107Pro)
c.1293A>C
c.*616A>C (n.*616A>C)
n.4259A>C
n.2860A>C
c.3371A>C (p.His1124Pro)
c.3419A>C (p.His1140Pro)
c.3479A>C (p.His1160Pro)
c.3029A>C (p.His1010Pro)
c.1331A>C (p.His444Pro)
c.1148A>C (p.His383Pro)
c.3380A>C (p.His1127Pro)
c.3332A>C (p.His1111Pro)
c.3101A>C (p.His1034Pro)
c.3002A>C (p.His1001Pro)
c.2183A>C (p.His728Pro)
n.3734A>C
13g.51941123G>ACA388026190ATP7Bc.*1164C>T (n.*1164C>T)
c.*2258C>T (n.*2258C>T)
c.2893C>T (p.His965Tyr)
c.3514C>T (p.His1172Tyr)
c.3181C>T (p.His1061Tyr)
c.3262C>T (p.His1088Tyr)
c.3280C>T (p.His1094Tyr)
n.3653C>T
n.3877C>T
c.2449C>T (p.His817Tyr)
c.2224C>T (p.His742Tyr)
c.3319C>T (p.His1107Tyr)
c.1292C>T
c.*615C>T (n.*615C>T)
n.4258C>T
n.2859C>T
c.3370C>T (p.His1124Tyr)
c.3418C>T (p.His1140Tyr)
c.3478C>T (p.His1160Tyr)
c.3028C>T (p.His1010Tyr)
c.1330C>T (p.His444Tyr)
c.1147C>T (p.His383Tyr)
c.3379C>T (p.His1127Tyr)
c.3331C>T (p.His1111Tyr)
c.3100C>T (p.His1034Tyr)
c.3001C>T (p.His1001Tyr)
c.2182C>T (p.His728Tyr)
n.3733C>T
13g.51941123G>CCA388026197ATP7Bc.*1164C>G (n.*1164C>G)
c.*2258C>G (n.*2258C>G)
c.2893C>G (p.His965Asp)
c.3514C>G (p.His1172Asp)
c.3181C>G (p.His1061Asp)
c.3262C>G (p.His1088Asp)
c.3280C>G (p.His1094Asp)
n.3653C>G
n.3877C>G
c.2449C>G (p.His817Asp)
c.2224C>G (p.His742Asp)
c.3319C>G (p.His1107Asp)
c.1292C>G
c.*615C>G (n.*615C>G)
n.4258C>G
n.2859C>G
c.3370C>G (p.His1124Asp)
c.3418C>G (p.His1140Asp)
c.3478C>G (p.His1160Asp)
c.3028C>G (p.His1010Asp)
c.1330C>G (p.His444Asp)
c.1147C>G (p.His383Asp)
c.3379C>G (p.His1127Asp)
c.3331C>G (p.His1111Asp)
c.3100C>G (p.His1034Asp)
c.3001C>G (p.His1001Asp)
c.2182C>G (p.His728Asp)
n.3733C>G
13g.51941123G>TCA388026194ATP7Bc.*1164C>A (n.*1164C>A)
c.*2258C>A (n.*2258C>A)
c.2893C>A (p.His965Asn)
c.3514C>A (p.His1172Asn)
c.3181C>A (p.His1061Asn)
c.3262C>A (p.His1088Asn)
c.3280C>A (p.His1094Asn)
n.3653C>A
n.3877C>A
c.2449C>A (p.His817Asn)
c.2224C>A (p.His742Asn)
c.3319C>A (p.His1107Asn)
c.1292C>A
c.*615C>A (n.*615C>A)
n.4258C>A
n.2859C>A
c.3370C>A (p.His1124Asn)
c.3418C>A (p.His1140Asn)
c.3478C>A (p.His1160Asn)
c.3028C>A (p.His1010Asn)
c.1330C>A (p.His444Asn)
c.1147C>A (p.His383Asn)
c.3379C>A (p.His1127Asn)
c.3331C>A (p.His1111Asn)
c.3100C>A (p.His1034Asn)
c.3001C>A (p.His1001Asn)
c.2182C>A (p.His728Asn)
n.3733C>A
13g.51941124G>ACA483893946ATP7Bc.*1163C>T (n.*1163C>T)
c.*2257C>T (n.*2257C>T)
c.2892C>T (p.Asp964=)
c.3513C>T (p.Asp1171=)
c.3180C>T (p.Asp1060=)
c.3261C>T (p.Asp1087=)
c.3279C>T (p.Asp1093=)
n.3652C>T
n.3876C>T
c.2448C>T (p.Asp816=)
c.2223C>T (p.Asp741=)
c.3318C>T (p.Asp1106=)
c.1291C>T
c.*614C>T (n.*614C>T)
n.4257C>T
n.2858C>T
c.3369C>T (p.Asp1123=)
c.3417C>T (p.Asp1139=)
c.3477C>T (p.Asp1159=)
c.3027C>T (p.Asp1009=)
c.1329C>T (p.Asp443=)
c.1146C>T (p.Asp382=)
c.3378C>T (p.Asp1126=)
c.3330C>T (p.Asp1110=)
c.3099C>T (p.Asp1033=)
c.3000C>T (p.Asp1000=)
c.2181C>T (p.Asp727=)
n.3732C>T
13g.51941124G>CCA388026201ATP7Bc.*1163C>G (n.*1163C>G)
c.*2257C>G (n.*2257C>G)
c.2892C>G (p.Asp964Glu)
c.3513C>G (p.Asp1171Glu)
c.3180C>G (p.Asp1060Glu)
c.3261C>G (p.Asp1087Glu)
c.3279C>G (p.Asp1093Glu)
n.3652C>G
n.3876C>G
c.2448C>G (p.Asp816Glu)
c.2223C>G (p.Asp741Glu)
c.3318C>G (p.Asp1106Glu)
c.1291C>G
c.*614C>G (n.*614C>G)
n.4257C>G
n.2858C>G
c.3369C>G (p.Asp1123Glu)
c.3417C>G (p.Asp1139Glu)
c.3477C>G (p.Asp1159Glu)
c.3027C>G (p.Asp1009Glu)
c.1329C>G (p.Asp443Glu)
c.1146C>G (p.Asp382Glu)
c.3378C>G (p.Asp1126Glu)
c.3330C>G (p.Asp1110Glu)
c.3099C>G (p.Asp1033Glu)
c.3000C>G (p.Asp1000Glu)
c.2181C>G (p.Asp727Glu)
n.3732C>G

Number of alleles fetched