Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.51941111_51941115del | CA2695199762 | ATP7B | c.*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 |
13 | g.51941112T>A | CA388026086 | ATP7B | c.*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 | |
13 | g.51941112T>C | CA483893944 | ATP7B | c.*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 |
13 | g.51941112T>G | CA388026089 | ATP7B | c.*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 | |
13 | g.51941112T= | CA2091559382 | ATP7B | c.*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= | |
13 | g.51941113T>A | CA388026099 | ATP7B | c.*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 | |
13 | g.51941113T>C | CA388026093 | ATP7B | c.*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 |
13 | g.51941113T>G | CA250077133 | ATP7B | c.*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 |
13 | g.51941113T= | CA2091559383 | ATP7B | c.*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= | |
13 | g.51941114T>A | CA388026103 | ATP7B | c.*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 |
13 | g.51941114T>C | CA388026112 | ATP7B | c.*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 | |
13 | g.51941114T>G | CA250077167 | ATP7B | c.*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 |
13 | g.51941114T= | CA2091559389 | ATP7B | c.*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= | |
13 | g.51941115C>A | CA388026116 | ATP7B | c.*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 | |
13 | g.51941115C>G | CA388026123 | ATP7B | c.*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 | |
13 | g.51941115C>T | CA388026127 | ATP7B | c.*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 | |
13 | g.51941116A>C | CA388026128 | ATP7B | c.*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 | |
13 | g.51941116A>G | CA388026131 | ATP7B | c.*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 | |
13 | g.51941116A>T | CA388026129 | ATP7B | c.*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 | |
13 | g.51941117T>A | CA388026133 | ATP7B | c.*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 |
13 | g.51941117T>C | CA6988666 | ATP7B | c.*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 |
13 | g.51941117T>G | CA388026139 | ATP7B | c.*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 | |
13 | g.51941117T= | CA2091559393 | ATP7B | c.*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= | |
13 | g.51941118C>A | CA388026143 | ATP7B | c.*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 | |
13 | g.51941118C>G | CA388026144 | ATP7B | c.*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 | |
13 | g.51941118C>T | CA483893945 | ATP7B | c.*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 |
13 | g.51941119T>A | CA388026145 | ATP7B | c.*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 |
13 | g.51941119T>C | CA388026146 | ATP7B | c.*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 |
13 | g.51941119T>G | CA388026147 | ATP7B | c.*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 | |
13 | g.51941120C>A | CA388026150 | ATP7B | c.*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 | |
13 | g.51941120C= | CA2091559398 | ATP7B | c.*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= | |
13 | g.51941120C>G | CA388026153 | ATP7B | c.*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 | |
13 | g.51941120C>T | CA274321 | ATP7B | c.*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 |
13 | g.51941121G>A | CA6988667 | ATP7B | c.*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 |
13 | g.51941121G>C | CA388026177 | ATP7B | c.*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 | |
13 | g.51941121G= | CA2091559403 | ATP7B | c.*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= | |
13 | g.51941121G>T | CA388026173 | ATP7B | c.*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 | |
13 | g.51941122T>A | CA388026180 | ATP7B | c.*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 | |
13 | g.51941122T>C | CA388026185 | ATP7B | c.*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 | |
13 | g.51941122T>G | CA388026183 | ATP7B | c.*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 | |
13 | g.51941123G>A | CA388026190 | ATP7B | c.*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 | |
13 | g.51941123G>C | CA388026197 | ATP7B | c.*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 | |
13 | g.51941123G>T | CA388026194 | ATP7B | c.*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 | |
13 | g.51941124G>A | CA483893946 | ATP7B | c.*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 | |
13 | g.51941124G>C | CA388026201 | ATP7B | c.*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 | |
13 | g.51941124G>T | CA388026205 | ATP7B | c.*1163C>A (n.*1163C>A) c.*2257C>A (n.*2257C>A) c.2892C>A (p.Asp964Glu) c.3513C>A (p.Asp1171Glu) c.3180C>A (p.Asp1060Glu) c.3261C>A (p.Asp1087Glu) c.3279C>A (p.Asp1093Glu) n.3652C>A n.3876C>A c.2448C>A (p.Asp816Glu) c.2223C>A (p.Asp741Glu) c.3318C>A (p.Asp1106Glu) c.1291C>A c.*614C>A (n.*614C>A) n.4257C>A n.2858C>A c.3369C>A (p.Asp1123Glu) c.3417C>A (p.Asp1139Glu) c.3477C>A (p.Asp1159Glu) c.3027C>A (p.Asp1009Glu) c.1329C>A (p.Asp443Glu) c.1146C>A (p.Asp382Glu) c.3378C>A (p.Asp1126Glu) c.3330C>A (p.Asp1110Glu) c.3099C>A (p.Asp1033Glu) c.3000C>A (p.Asp1000Glu) c.2181C>A (p.Asp727Glu) n.3732C>A | |
13 | g.51941125T>A | CA388026213 | ATP7B | c.*1162A>T (n.*1162A>T) c.*2256A>T (n.*2256A>T) c.2891A>T (p.Asp964Val) c.3512A>T (p.Asp1171Val) c.3179A>T (p.Asp1060Val) c.3260A>T (p.Asp1087Val) c.3278A>T (p.Asp1093Val) n.3651A>T n.3875A>T c.2447A>T (p.Asp816Val) c.2222A>T (p.Asp741Val) c.3317A>T (p.Asp1106Val) c.1290A>T c.*613A>T (n.*613A>T) n.4256A>T n.2857A>T c.3368A>T (p.Asp1123Val) c.3416A>T (p.Asp1139Val) c.3476A>T (p.Asp1159Val) c.3026A>T (p.Asp1009Val) c.1328A>T (p.Asp443Val) c.1145A>T (p.Asp382Val) c.3377A>T (p.Asp1126Val) c.3329A>T (p.Asp1110Val) c.3098A>T (p.Asp1033Val) c.2999A>T (p.Asp1000Val) c.2180A>T (p.Asp727Val) n.3731A>T | |
13 | g.51941125T>C | CA388026215 | ATP7B | c.*1162A>G (n.*1162A>G) c.*2256A>G (n.*2256A>G) c.2891A>G (p.Asp964Gly) c.3512A>G (p.Asp1171Gly) c.3179A>G (p.Asp1060Gly) c.3260A>G (p.Asp1087Gly) c.3278A>G (p.Asp1093Gly) n.3651A>G n.3875A>G c.2447A>G (p.Asp816Gly) c.2222A>G (p.Asp741Gly) c.3317A>G (p.Asp1106Gly) c.1290A>G c.*613A>G (n.*613A>G) n.4256A>G n.2857A>G c.3368A>G (p.Asp1123Gly) c.3416A>G (p.Asp1139Gly) c.3476A>G (p.Asp1159Gly) c.3026A>G (p.Asp1009Gly) c.1328A>G (p.Asp443Gly) c.1145A>G (p.Asp382Gly) c.3377A>G (p.Asp1126Gly) c.3329A>G (p.Asp1110Gly) c.3098A>G (p.Asp1033Gly) c.2999A>G (p.Asp1000Gly) c.2180A>G (p.Asp727Gly) n.3731A>G | |
13 | g.51941125T>G | CA388026218 | ATP7B | c.*1162A>C (n.*1162A>C) c.*2256A>C (n.*2256A>C) c.2891A>C (p.Asp964Ala) c.3512A>C (p.Asp1171Ala) c.3179A>C (p.Asp1060Ala) c.3260A>C (p.Asp1087Ala) c.3278A>C (p.Asp1093Ala) n.3651A>C n.3875A>C c.2447A>C (p.Asp816Ala) c.2222A>C (p.Asp741Ala) c.3317A>C (p.Asp1106Ala) c.1290A>C c.*613A>C (n.*613A>C) n.4256A>C n.2857A>C c.3368A>C (p.Asp1123Ala) c.3416A>C (p.Asp1139Ala) c.3476A>C (p.Asp1159Ala) c.3026A>C (p.Asp1009Ala) c.1328A>C (p.Asp443Ala) c.1145A>C (p.Asp382Ala) c.3377A>C (p.Asp1126Ala) c.3329A>C (p.Asp1110Ala) c.3098A>C (p.Asp1033Ala) c.2999A>C (p.Asp1000Ala) c.2180A>C (p.Asp727Ala) n.3731A>C | |
13 | g.51941126C>A | CA388026221 | ATP7B | c.*1161G>T (n.*1161G>T) c.*2255G>T (n.*2255G>T) c.2890G>T (p.Asp964Tyr) c.3511G>T (p.Asp1171Tyr) c.3178G>T (p.Asp1060Tyr) c.3259G>T (p.Asp1087Tyr) c.3277G>T (p.Asp1093Tyr) n.3650G>T n.3874G>T c.2446G>T (p.Asp816Tyr) c.2221G>T (p.Asp741Tyr) c.3316G>T (p.Asp1106Tyr) c.1289G>T c.*612G>T (n.*612G>T) n.4255G>T n.2856G>T c.3367G>T (p.Asp1123Tyr) c.3415G>T (p.Asp1139Tyr) c.3475G>T (p.Asp1159Tyr) c.3025G>T (p.Asp1009Tyr) c.1327G>T (p.Asp443Tyr) c.1144G>T (p.Asp382Tyr) c.3376G>T (p.Asp1126Tyr) c.3328G>T (p.Asp1110Tyr) c.3097G>T (p.Asp1033Tyr) c.2998G>T (p.Asp1000Tyr) c.2179G>T (p.Asp727Tyr) n.3730G>T | |
13 | g.51941126C>G | CA388026234 | ATP7B | c.*1161G>C (n.*1161G>C) c.*2255G>C (n.*2255G>C) c.2890G>C (p.Asp964His) c.3511G>C (p.Asp1171His) c.3178G>C (p.Asp1060His) c.3259G>C (p.Asp1087His) c.3277G>C (p.Asp1093His) n.3650G>C n.3874G>C c.2446G>C (p.Asp816His) c.2221G>C (p.Asp741His) c.3316G>C (p.Asp1106His) c.1289G>C c.*612G>C (n.*612G>C) n.4255G>C n.2856G>C c.3367G>C (p.Asp1123His) c.3415G>C (p.Asp1139His) c.3475G>C (p.Asp1159His) c.3025G>C (p.Asp1009His) c.1327G>C (p.Asp443His) c.1144G>C (p.Asp382His) c.3376G>C (p.Asp1126His) c.3328G>C (p.Asp1110His) c.3097G>C (p.Asp1033His) c.2998G>C (p.Asp1000His) c.2179G>C (p.Asp727His) n.3730G>C | gnomAD v4 |
13 | g.51941126C>T | CA388026238 | ATP7B | c.*1161G>A (n.*1161G>A) c.*2255G>A (n.*2255G>A) c.2890G>A (p.Asp964Asn) c.3511G>A (p.Asp1171Asn) c.3178G>A (p.Asp1060Asn) c.3259G>A (p.Asp1087Asn) c.3277G>A (p.Asp1093Asn) n.3650G>A n.3874G>A c.2446G>A (p.Asp816Asn) c.2221G>A (p.Asp741Asn) c.3316G>A (p.Asp1106Asn) c.1289G>A c.*612G>A (n.*612G>A) n.4255G>A n.2856G>A c.3367G>A (p.Asp1123Asn) c.3415G>A (p.Asp1139Asn) c.3475G>A (p.Asp1159Asn) c.3025G>A (p.Asp1009Asn) c.1327G>A (p.Asp443Asn) c.1144G>A (p.Asp382Asn) c.3376G>A (p.Asp1126Asn) c.3328G>A (p.Asp1110Asn) c.3097G>A (p.Asp1033Asn) c.2998G>A (p.Asp1000Asn) c.2179G>A (p.Asp727Asn) n.3730G>A | gnomAD v4 |
13 | g.51941127T>A | CA483893947 | ATP7B | c.*1160A>T (n.*1160A>T) c.*2254A>T (n.*2254A>T) c.2889A>T (p.Thr963=) c.3510A>T (p.Thr1170=) c.3177A>T (p.Thr1059=) c.3258A>T (p.Thr1086=) c.3276A>T (p.Thr1092=) n.3649A>T n.3873A>T c.2445A>T (p.Thr815=) c.2220A>T (p.Thr740=) c.3315A>T (p.Thr1105=) c.1288A>T c.*611A>T (n.*611A>T) n.4254A>T n.2855A>T c.3366A>T (p.Thr1122=) c.3414A>T (p.Thr1138=) c.3474A>T (p.Thr1158=) c.3024A>T (p.Thr1008=) c.1326A>T (p.Thr442=) c.1143A>T (p.Thr381=) c.3375A>T (p.Thr1125=) c.3327A>T (p.Thr1109=) c.3096A>T (p.Thr1032=) c.2997A>T (p.Thr999=) c.2178A>T (p.Thr726=) n.3729A>T | |
13 | g.51941127T>C | CA6988668 | ATP7B | c.*1160A>G (n.*1160A>G) c.*2254A>G (n.*2254A>G) c.2889A>G (p.Thr963=) c.3510A>G (p.Thr1170=) c.3177A>G (p.Thr1059=) c.3258A>G (p.Thr1086=) c.3276A>G (p.Thr1092=) n.3649A>G n.3873A>G c.2445A>G (p.Thr815=) c.2220A>G (p.Thr740=) c.3315A>G (p.Thr1105=) c.1288A>G c.*611A>G (n.*611A>G) n.4254A>G n.2855A>G c.3366A>G (p.Thr1122=) c.3414A>G (p.Thr1138=) c.3474A>G (p.Thr1158=) c.3024A>G (p.Thr1008=) c.1326A>G (p.Thr442=) c.1143A>G (p.Thr381=) c.3375A>G (p.Thr1125=) c.3327A>G (p.Thr1109=) c.3096A>G (p.Thr1032=) c.2997A>G (p.Thr999=) c.2178A>G (p.Thr726=) n.3729A>G | dbSNP ExAC gnomAD v2 |
13 | g.51941127T>G | CA483893948 | ATP7B | c.*1160A>C (n.*1160A>C) c.*2254A>C (n.*2254A>C) c.2889A>C (p.Thr963=) c.3510A>C (p.Thr1170=) c.3177A>C (p.Thr1059=) c.3258A>C (p.Thr1086=) c.3276A>C (p.Thr1092=) n.3649A>C n.3873A>C c.2445A>C (p.Thr815=) c.2220A>C (p.Thr740=) c.3315A>C (p.Thr1105=) c.1288A>C c.*611A>C (n.*611A>C) n.4254A>C n.2855A>C c.3366A>C (p.Thr1122=) c.3414A>C (p.Thr1138=) c.3474A>C (p.Thr1158=) c.3024A>C (p.Thr1008=) c.1326A>C (p.Thr442=) c.1143A>C (p.Thr381=) c.3375A>C (p.Thr1125=) c.3327A>C (p.Thr1109=) c.3096A>C (p.Thr1032=) c.2997A>C (p.Thr999=) c.2178A>C (p.Thr726=) n.3729A>C | |
13 | g.51941127T= | CA2091559407 | ATP7B | c.*1160A= (n.*1160A=) c.*2254A= (n.*2254A=) c.2889A= (p.Thr963=) c.3510A= (p.Thr1170=) c.3177A= (p.Thr1059=) c.3258A= (p.Thr1086=) c.3276A= (p.Thr1092=) n.3649A= n.3873A= c.2445A= (p.Thr815=) c.2220A= (p.Thr740=) c.3315A= (p.Thr1105=) c.1288A= c.*611A= (n.*611A=) n.4254A= n.2855A= c.3366A= (p.Thr1122=) c.3414A= (p.Thr1138=) c.3474A= (p.Thr1158=) c.3024A= (p.Thr1008=) c.1326A= (p.Thr442=) c.1143A= (p.Thr381=) c.3375A= (p.Thr1125=) c.3327A= (p.Thr1109=) c.3096A= (p.Thr1032=) c.2997A= (p.Thr999=) c.2178A= (p.Thr726=) n.3729A= | |
13 | g.51941127_51941128delinsTG | CA2091559408 | ATP7B | c.*1159_*1160delinsCA (n.*1159_*1160delinsCA) c.*2253_*2254delinsCA (n.*2253_*2254delinsCA) c.2888_2889delinsCA (p.Thr963=) c.3509_3510delinsCA (p.Thr1170=) c.3176_3177delinsCA (p.Thr1059=) c.3257_3258delinsCA (p.Thr1086=) c.3275_3276delinsCA (p.Thr1092=) n.3648_3649delinsCA n.3872_3873delinsCA c.2444_2445delinsCA (p.Thr815=) c.2219_2220delinsCA (p.Thr740=) c.3314_3315delinsCA (p.Thr1105=) c.1287_1288delinsCA c.*610_*611delinsCA (n.*610_*611delinsCA) n.4253_4254delinsCA n.2854_2855delinsCA c.3365_3366delinsCA (p.Thr1122=) c.3413_3414delinsCA (p.Thr1138=) c.3473_3474delinsCA (p.Thr1158=) c.3023_3024delinsCA (p.Thr1008=) c.1325_1326delinsCA (p.Thr442=) c.1142_1143delinsCA (p.Thr381=) c.3374_3375delinsCA (p.Thr1125=) c.3326_3327delinsCA (p.Thr1109=) c.3095_3096delinsCA (p.Thr1032=) c.2996_2997delinsCA (p.Thr999=) c.2177_2178delinsCA (p.Thr726=) n.3728_3729delinsCA | |
13 | g.51941128del | CA6988669 | ATP7B | c.*1159del (n.*1159del) c.*2253del (n.*2253del) c.2888del (p.Thr963LysfsTer5) c.3509del (p.Thr1170LysfsTer5) c.3176del (p.Thr1059LysfsTer5) c.3257del (p.Thr1086LysfsTer5) c.3275del (p.Thr1092LysfsTer5) n.3648del n.3872del c.2444del (p.Thr815LysfsTer5) c.2219del (p.Thr740LysfsTer5) c.3314del (p.Thr1105LysfsTer5) c.1287del c.*610del (n.*610del) n.4253del n.2854del c.3365del (p.Thr1122LysfsTer5) c.3413del (p.Thr1138LysfsTer5) c.3473del (p.Thr1158LysfsTer5) c.3023del (p.Thr1008LysfsTer5) c.1325del (p.Thr442LysfsTer5) c.1142del (p.Thr381LysfsTer5) c.3374del (p.Thr1125LysfsTer5) c.3326del (p.Thr1109LysfsTer5) c.3095del (p.Thr1032LysfsTer5) c.2996del (p.Thr999LysfsTer5) c.2177del (p.Thr726LysfsTer5) n.3728del | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51941128G>A | CA388026242 | ATP7B | c.*1159C>T (n.*1159C>T) c.*2253C>T (n.*2253C>T) c.2888C>T (p.Thr963Ile) c.3509C>T (p.Thr1170Ile) c.3176C>T (p.Thr1059Ile) c.3257C>T (p.Thr1086Ile) c.3275C>T (p.Thr1092Ile) n.3648C>T n.3872C>T c.2444C>T (p.Thr815Ile) c.2219C>T (p.Thr740Ile) c.3314C>T (p.Thr1105Ile) c.1287C>T c.*610C>T (n.*610C>T) n.4253C>T n.2854C>T c.3365C>T (p.Thr1122Ile) c.3413C>T (p.Thr1138Ile) c.3473C>T (p.Thr1158Ile) c.3023C>T (p.Thr1008Ile) c.1325C>T (p.Thr442Ile) c.1142C>T (p.Thr381Ile) c.3374C>T (p.Thr1125Ile) c.3326C>T (p.Thr1109Ile) c.3095C>T (p.Thr1032Ile) c.2996C>T (p.Thr999Ile) c.2177C>T (p.Thr726Ile) n.3728C>T | |
13 | g.51941128G>C | CA388026244 | ATP7B | c.*1159C>G (n.*1159C>G) c.*2253C>G (n.*2253C>G) c.2888C>G (p.Thr963Arg) c.3509C>G (p.Thr1170Arg) c.3176C>G (p.Thr1059Arg) c.3257C>G (p.Thr1086Arg) c.3275C>G (p.Thr1092Arg) n.3648C>G n.3872C>G c.2444C>G (p.Thr815Arg) c.2219C>G (p.Thr740Arg) c.3314C>G (p.Thr1105Arg) c.1287C>G c.*610C>G (n.*610C>G) n.4253C>G n.2854C>G c.3365C>G (p.Thr1122Arg) c.3413C>G (p.Thr1138Arg) c.3473C>G (p.Thr1158Arg) c.3023C>G (p.Thr1008Arg) c.1325C>G (p.Thr442Arg) c.1142C>G (p.Thr381Arg) c.3374C>G (p.Thr1125Arg) c.3326C>G (p.Thr1109Arg) c.3095C>G (p.Thr1032Arg) c.2996C>G (p.Thr999Arg) c.2177C>G (p.Thr726Arg) n.3728C>G | |
13 | g.51941128G>T | CA388026247 | ATP7B | c.*1159C>A (n.*1159C>A) c.*2253C>A (n.*2253C>A) c.2888C>A (p.Thr963Lys) c.3509C>A (p.Thr1170Lys) c.3176C>A (p.Thr1059Lys) c.3257C>A (p.Thr1086Lys) c.3275C>A (p.Thr1092Lys) n.3648C>A n.3872C>A c.2444C>A (p.Thr815Lys) c.2219C>A (p.Thr740Lys) c.3314C>A (p.Thr1105Lys) c.1287C>A c.*610C>A (n.*610C>A) n.4253C>A n.2854C>A c.3365C>A (p.Thr1122Lys) c.3413C>A (p.Thr1138Lys) c.3473C>A (p.Thr1158Lys) c.3023C>A (p.Thr1008Lys) c.1325C>A (p.Thr442Lys) c.1142C>A (p.Thr381Lys) c.3374C>A (p.Thr1125Lys) c.3326C>A (p.Thr1109Lys) c.3095C>A (p.Thr1032Lys) c.2996C>A (p.Thr999Lys) c.2177C>A (p.Thr726Lys) n.3728C>A | |
13 | g.51941129T>A | CA388026269 | ATP7B | c.*1158A>T (n.*1158A>T) c.*2252A>T (n.*2252A>T) c.2887A>T (p.Thr963Ser) c.3508A>T (p.Thr1170Ser) c.3175A>T (p.Thr1059Ser) c.3256A>T (p.Thr1086Ser) c.3274A>T (p.Thr1092Ser) n.3647A>T n.3871A>T c.2443A>T (p.Thr815Ser) c.2218A>T (p.Thr740Ser) c.3313A>T (p.Thr1105Ser) c.1286A>T c.*609A>T (n.*609A>T) n.4252A>T n.2853A>T c.3364A>T (p.Thr1122Ser) c.3412A>T (p.Thr1138Ser) c.3472A>T (p.Thr1158Ser) c.3022A>T (p.Thr1008Ser) c.1324A>T (p.Thr442Ser) c.1141A>T (p.Thr381Ser) c.3373A>T (p.Thr1125Ser) c.3325A>T (p.Thr1109Ser) c.3094A>T (p.Thr1032Ser) c.2995A>T (p.Thr999Ser) c.2176A>T (p.Thr726Ser) n.3727A>T | |
13 | g.51941129T>C | CA388026265 | ATP7B | c.*1158A>G (n.*1158A>G) c.*2252A>G (n.*2252A>G) c.2887A>G (p.Thr963Ala) c.3508A>G (p.Thr1170Ala) c.3175A>G (p.Thr1059Ala) c.3256A>G (p.Thr1086Ala) c.3274A>G (p.Thr1092Ala) n.3647A>G n.3871A>G c.2443A>G (p.Thr815Ala) c.2218A>G (p.Thr740Ala) c.3313A>G (p.Thr1105Ala) c.1286A>G c.*609A>G (n.*609A>G) n.4252A>G n.2853A>G c.3364A>G (p.Thr1122Ala) c.3412A>G (p.Thr1138Ala) c.3472A>G (p.Thr1158Ala) c.3022A>G (p.Thr1008Ala) c.1324A>G (p.Thr442Ala) c.1141A>G (p.Thr381Ala) c.3373A>G (p.Thr1125Ala) c.3325A>G (p.Thr1109Ala) c.3094A>G (p.Thr1032Ala) c.2995A>G (p.Thr999Ala) c.2176A>G (p.Thr726Ala) n.3727A>G | |
13 | g.51941129T>G | CA388026268 | ATP7B | c.*1158A>C (n.*1158A>C) c.*2252A>C (n.*2252A>C) c.2887A>C (p.Thr963Pro) c.3508A>C (p.Thr1170Pro) c.3175A>C (p.Thr1059Pro) c.3256A>C (p.Thr1086Pro) c.3274A>C (p.Thr1092Pro) n.3647A>C n.3871A>C c.2443A>C (p.Thr815Pro) c.2218A>C (p.Thr740Pro) c.3313A>C (p.Thr1105Pro) c.1286A>C c.*609A>C (n.*609A>C) n.4252A>C n.2853A>C c.3364A>C (p.Thr1122Pro) c.3412A>C (p.Thr1138Pro) c.3472A>C (p.Thr1158Pro) c.3022A>C (p.Thr1008Pro) c.1324A>C (p.Thr442Pro) c.1141A>C (p.Thr381Pro) c.3373A>C (p.Thr1125Pro) c.3325A>C (p.Thr1109Pro) c.3094A>C (p.Thr1032Pro) c.2995A>C (p.Thr999Pro) c.2176A>C (p.Thr726Pro) n.3727A>C | |
13 | g.51941130C>A | CA388026273 | ATP7B | c.*1157G>T (n.*1157G>T) c.*2251G>T (n.*2251G>T) c.2886G>T (p.Met962Ile) c.3507G>T (p.Met1169Ile) c.3174G>T (p.Met1058Ile) c.3255G>T (p.Met1085Ile) c.3273G>T (p.Met1091Ile) n.3646G>T n.3870G>T c.2442G>T (p.Met814Ile) c.2217G>T (p.Met739Ile) c.3312G>T (p.Met1104Ile) c.1285G>T c.*608G>T (n.*608G>T) n.4251G>T n.2852G>T c.3363G>T (p.Met1121Ile) c.3411G>T (p.Met1137Ile) c.3471G>T (p.Met1157Ile) c.3021G>T (p.Met1007Ile) c.1323G>T (p.Met441Ile) c.1140G>T (p.Met380Ile) c.3372G>T (p.Met1124Ile) c.3324G>T (p.Met1108Ile) c.3093G>T (p.Met1031Ile) c.2994G>T (p.Met998Ile) c.2175G>T (p.Met725Ile) n.3726G>T | |
13 | g.51941130C>G | CA388026276 | ATP7B | c.*1157G>C (n.*1157G>C) c.*2251G>C (n.*2251G>C) c.2886G>C (p.Met962Ile) c.3507G>C (p.Met1169Ile) c.3174G>C (p.Met1058Ile) c.3255G>C (p.Met1085Ile) c.3273G>C (p.Met1091Ile) n.3646G>C n.3870G>C c.2442G>C (p.Met814Ile) c.2217G>C (p.Met739Ile) c.3312G>C (p.Met1104Ile) c.1285G>C c.*608G>C (n.*608G>C) n.4251G>C n.2852G>C c.3363G>C (p.Met1121Ile) c.3411G>C (p.Met1137Ile) c.3471G>C (p.Met1157Ile) c.3021G>C (p.Met1007Ile) c.1323G>C (p.Met441Ile) c.1140G>C (p.Met380Ile) c.3372G>C (p.Met1124Ile) c.3324G>C (p.Met1108Ile) c.3093G>C (p.Met1031Ile) c.2994G>C (p.Met998Ile) c.2175G>C (p.Met725Ile) n.3726G>C | |
13 | g.51941130C>T | CA388026279 | ATP7B | c.*1157G>A (n.*1157G>A) c.*2251G>A (n.*2251G>A) c.2886G>A (p.Met962Ile) c.3507G>A (p.Met1169Ile) c.3174G>A (p.Met1058Ile) c.3255G>A (p.Met1085Ile) c.3273G>A (p.Met1091Ile) n.3646G>A n.3870G>A c.2442G>A (p.Met814Ile) c.2217G>A (p.Met739Ile) c.3312G>A (p.Met1104Ile) c.1285G>A c.*608G>A (n.*608G>A) n.4251G>A n.2852G>A c.3363G>A (p.Met1121Ile) c.3411G>A (p.Met1137Ile) c.3471G>A (p.Met1157Ile) c.3021G>A (p.Met1007Ile) c.1323G>A (p.Met441Ile) c.1140G>A (p.Met380Ile) c.3372G>A (p.Met1124Ile) c.3324G>A (p.Met1108Ile) c.3093G>A (p.Met1031Ile) c.2994G>A (p.Met998Ile) c.2175G>A (p.Met725Ile) n.3726G>A | ClinVar dbSNP gnomAD v4 |
13 | g.51941130_51941132delinsCAT | CA2091559414 | ATP7B | c.*1155_*1157delinsATG (n.*1155_*1157delinsATG) c.*2249_*2251delinsATG (n.*2249_*2251delinsATG) c.2884_2886delinsATG (p.Met962=) c.3505_3507delinsATG (p.Met1169=) c.3172_3174delinsATG (p.Met1058=) c.3253_3255delinsATG (p.Met1085=) c.3271_3273delinsATG (p.Met1091=) n.3644_3646delinsATG n.3868_3870delinsATG c.2440_2442delinsATG (p.Met814=) c.2215_2217delinsATG (p.Met739=) c.3310_3312delinsATG (p.Met1104=) c.1283_1285delinsATG c.*606_*608delinsATG (n.*606_*608delinsATG) n.4249_4251delinsATG n.2850_2852delinsATG c.3361_3363delinsATG (p.Met1121=) c.3409_3411delinsATG (p.Met1137=) c.3469_3471delinsATG (p.Met1157=) c.3019_3021delinsATG (p.Met1007=) c.1321_1323delinsATG (p.Met441=) c.1138_1140delinsATG (p.Met380=) c.3370_3372delinsATG (p.Met1124=) c.3322_3324delinsATG (p.Met1108=) c.3091_3093delinsATG (p.Met1031=) c.2992_2994delinsATG (p.Met998=) c.2173_2175delinsATG (p.Met725=) n.3724_3726delinsATG | |
13 | g.51941131A= | CA2091559419 | ATP7B | c.*1156T= (n.*1156T=) c.*2250T= (n.*2250T=) c.2885T= (p.Met962=) c.3506T= (p.Met1169=) c.3173T= (p.Met1058=) c.3254T= (p.Met1085=) c.3272T= (p.Met1091=) n.3645T= n.3869T= c.2441T= (p.Met814=) c.2216T= (p.Met739=) c.3311T= (p.Met1104=) c.1284T= c.*607T= (n.*607T=) n.4250T= n.2851T= c.3362T= (p.Met1121=) c.3410T= (p.Met1137=) c.3470T= (p.Met1157=) c.3020T= (p.Met1007=) c.1322T= (p.Met441=) c.1139T= (p.Met380=) c.3371T= (p.Met1124=) c.3323T= (p.Met1108=) c.3092T= (p.Met1031=) c.2993T= (p.Met998=) c.2174T= (p.Met725=) n.3725T= | |
13 | g.51941131A>C | CA388026283 | ATP7B | c.*1156T>G (n.*1156T>G) c.*2250T>G (n.*2250T>G) c.2885T>G (p.Met962Arg) c.3506T>G (p.Met1169Arg) c.3173T>G (p.Met1058Arg) c.3254T>G (p.Met1085Arg) c.3272T>G (p.Met1091Arg) n.3645T>G n.3869T>G c.2441T>G (p.Met814Arg) c.2216T>G (p.Met739Arg) c.3311T>G (p.Met1104Arg) c.1284T>G c.*607T>G (n.*607T>G) n.4250T>G n.2851T>G c.3362T>G (p.Met1121Arg) c.3410T>G (p.Met1137Arg) c.3470T>G (p.Met1157Arg) c.3020T>G (p.Met1007Arg) c.1322T>G (p.Met441Arg) c.1139T>G (p.Met380Arg) c.3371T>G (p.Met1124Arg) c.3323T>G (p.Met1108Arg) c.3092T>G (p.Met1031Arg) c.2993T>G (p.Met998Arg) c.2174T>G (p.Met725Arg) n.3725T>G | |
13 | g.51941131A>G | CA388026285 | ATP7B | c.*1156T>C (n.*1156T>C) c.*2250T>C (n.*2250T>C) c.2885T>C (p.Met962Thr) c.3506T>C (p.Met1169Thr) c.3173T>C (p.Met1058Thr) c.3254T>C (p.Met1085Thr) c.3272T>C (p.Met1091Thr) n.3645T>C n.3869T>C c.2441T>C (p.Met814Thr) c.2216T>C (p.Met739Thr) c.3311T>C (p.Met1104Thr) c.1284T>C c.*607T>C (n.*607T>C) n.4250T>C n.2851T>C c.3362T>C (p.Met1121Thr) c.3410T>C (p.Met1137Thr) c.3470T>C (p.Met1157Thr) c.3020T>C (p.Met1007Thr) c.1322T>C (p.Met441Thr) c.1139T>C (p.Met380Thr) c.3371T>C (p.Met1124Thr) c.3323T>C (p.Met1108Thr) c.3092T>C (p.Met1031Thr) c.2993T>C (p.Met998Thr) c.2174T>C (p.Met725Thr) n.3725T>C | ClinVar dbSNP |
13 | g.51941131A>T | CA388026288 | ATP7B | c.*1156T>A (n.*1156T>A) c.*2250T>A (n.*2250T>A) c.2885T>A (p.Met962Lys) c.3506T>A (p.Met1169Lys) c.3173T>A (p.Met1058Lys) c.3254T>A (p.Met1085Lys) c.3272T>A (p.Met1091Lys) n.3645T>A n.3869T>A c.2441T>A (p.Met814Lys) c.2216T>A (p.Met739Lys) c.3311T>A (p.Met1104Lys) c.1284T>A c.*607T>A (n.*607T>A) n.4250T>A n.2851T>A c.3362T>A (p.Met1121Lys) c.3410T>A (p.Met1137Lys) c.3470T>A (p.Met1157Lys) c.3020T>A (p.Met1007Lys) c.1322T>A (p.Met441Lys) c.1139T>A (p.Met380Lys) c.3371T>A (p.Met1124Lys) c.3323T>A (p.Met1108Lys) c.3092T>A (p.Met1031Lys) c.2993T>A (p.Met998Lys) c.2174T>A (p.Met725Lys) n.3725T>A | |
13 | g.51941132_51941133del | CA609963665 | ATP7B | c.*1155_*1156del (n.*1155_*1156del) c.*2249_*2250del (n.*2249_*2250del) c.2884_2885del (p.Met962AspfsTer16) c.3505_3506del (p.Met1169AspfsTer16) c.3172_3173del (p.Met1058AspfsTer16) c.3253_3254del (p.Met1085AspfsTer16) c.3271_3272del (p.Met1091AspfsTer16) n.3644_3645del n.3868_3869del c.2440_2441del (p.Met814AspfsTer16) c.2215_2216del (p.Met739AspfsTer16) c.3310_3311del (p.Met1104AspfsTer16) c.1283_1284del c.*606_*607del (n.*606_*607del) n.4249_4250del n.2850_2851del c.3361_3362del (p.Met1121AspfsTer16) c.3409_3410del (p.Met1137AspfsTer16) c.3469_3470del (p.Met1157AspfsTer16) c.3019_3020del (p.Met1007AspfsTer16) c.1321_1322del (p.Met441AspfsTer16) c.1138_1139del (p.Met380AspfsTer16) c.3370_3371del (p.Met1124AspfsTer16) c.3322_3323del (p.Met1108AspfsTer16) c.3091_3092del (p.Met1031AspfsTer16) c.2992_2993del (p.Met998AspfsTer16) c.2173_2174del (p.Met725AspfsTer16) n.3724_3725del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51941132T>A | CA388026291 | ATP7B | c.*1155A>T (n.*1155A>T) c.*2249A>T (n.*2249A>T) c.2884A>T (p.Met962Leu) c.3505A>T (p.Met1169Leu) c.3172A>T (p.Met1058Leu) c.3253A>T (p.Met1085Leu) c.3271A>T (p.Met1091Leu) n.3644A>T n.3868A>T c.2440A>T (p.Met814Leu) c.2215A>T (p.Met739Leu) c.3310A>T (p.Met1104Leu) c.1283A>T c.*606A>T (n.*606A>T) n.4249A>T n.2850A>T c.3361A>T (p.Met1121Leu) c.3409A>T (p.Met1137Leu) c.3469A>T (p.Met1157Leu) c.3019A>T (p.Met1007Leu) c.1321A>T (p.Met441Leu) c.1138A>T (p.Met380Leu) c.3370A>T (p.Met1124Leu) c.3322A>T (p.Met1108Leu) c.3091A>T (p.Met1031Leu) c.2992A>T (p.Met998Leu) c.2173A>T (p.Met725Leu) n.3724A>T | |
13 | g.51941132T>C | CA277193 | ATP7B | c.*1155A>G (n.*1155A>G) c.*2249A>G (n.*2249A>G) c.2884A>G (p.Met962Val) c.3505A>G (p.Met1169Val) c.3172A>G (p.Met1058Val) c.3253A>G (p.Met1085Val) c.3271A>G (p.Met1091Val) n.3644A>G n.3868A>G c.2440A>G (p.Met814Val) c.2215A>G (p.Met739Val) c.3310A>G (p.Met1104Val) c.1283A>G c.*606A>G (n.*606A>G) n.4249A>G n.2850A>G c.3361A>G (p.Met1121Val) c.3409A>G (p.Met1137Val) c.3469A>G (p.Met1157Val) c.3019A>G (p.Met1007Val) c.1321A>G (p.Met441Val) c.1138A>G (p.Met380Val) c.3370A>G (p.Met1124Val) c.3322A>G (p.Met1108Val) c.3091A>G (p.Met1031Val) c.2992A>G (p.Met998Val) c.2173A>G (p.Met725Val) n.3724A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51941132T>G | CA388026299 | ATP7B | c.*1155A>C (n.*1155A>C) c.*2249A>C (n.*2249A>C) c.2884A>C (p.Met962Leu) c.3505A>C (p.Met1169Leu) c.3172A>C (p.Met1058Leu) c.3253A>C (p.Met1085Leu) c.3271A>C (p.Met1091Leu) n.3644A>C n.3868A>C c.2440A>C (p.Met814Leu) c.2215A>C (p.Met739Leu) c.3310A>C (p.Met1104Leu) c.1283A>C c.*606A>C (n.*606A>C) n.4249A>C n.2850A>C c.3361A>C (p.Met1121Leu) c.3409A>C (p.Met1137Leu) c.3469A>C (p.Met1157Leu) c.3019A>C (p.Met1007Leu) c.1321A>C (p.Met441Leu) c.1138A>C (p.Met380Leu) c.3370A>C (p.Met1124Leu) c.3322A>C (p.Met1108Leu) c.3091A>C (p.Met1031Leu) c.2992A>C (p.Met998Leu) c.2173A>C (p.Met725Leu) n.3724A>C | gnomAD v4 |
13 | g.51941132T= | CA2091559428 | ATP7B | c.*1155A= (n.*1155A=) c.*2249A= (n.*2249A=) c.2884A= (p.Met962=) c.3505A= (p.Met1169=) c.3172A= (p.Met1058=) c.3253A= (p.Met1085=) c.3271A= (p.Met1091=) n.3644A= n.3868A= c.2440A= (p.Met814=) c.2215A= (p.Met739=) c.3310A= (p.Met1104=) c.1283A= c.*606A= (n.*606A=) n.4249A= n.2850A= c.3361A= (p.Met1121=) c.3409A= (p.Met1137=) c.3469A= (p.Met1157=) c.3019A= (p.Met1007=) c.1321A= (p.Met441=) c.1138A= (p.Met380=) c.3370A= (p.Met1124=) c.3322A= (p.Met1108=) c.3091A= (p.Met1031=) c.2992A= (p.Met998=) c.2173A= (p.Met725=) n.3724A= | |
13 | g.51941133A= | CA2091559435 | ATP7B | c.*1154T= (n.*1154T=) c.*2248T= (n.*2248T=) c.2883T= (p.Ala961=) c.3504T= (p.Ala1168=) c.3171T= (p.Ala1057=) c.3252T= (p.Ala1084=) c.3270T= (p.Ala1090=) n.3643T= n.3867T= c.2439T= (p.Ala813=) c.2214T= (p.Ala738=) c.3309T= (p.Ala1103=) c.1282T= c.*605T= (n.*605T=) n.4248T= n.2849T= c.3360T= (p.Ala1120=) c.3408T= (p.Ala1136=) c.3468T= (p.Ala1156=) c.3018T= (p.Ala1006=) c.1320T= (p.Ala440=) c.1137T= (p.Ala379=) c.3369T= (p.Ala1123=) c.3321T= (p.Ala1107=) c.3090T= (p.Ala1030=) c.2991T= (p.Ala997=) c.2172T= (p.Ala724=) n.3723T= | |
13 | g.51941133A>C | CA483893950 | ATP7B | c.*1154T>G (n.*1154T>G) c.*2248T>G (n.*2248T>G) c.2883T>G (p.Ala961=) c.3504T>G (p.Ala1168=) c.3171T>G (p.Ala1057=) c.3252T>G (p.Ala1084=) c.3270T>G (p.Ala1090=) n.3643T>G n.3867T>G c.2439T>G (p.Ala813=) c.2214T>G (p.Ala738=) c.3309T>G (p.Ala1103=) c.1282T>G c.*605T>G (n.*605T>G) n.4248T>G n.2849T>G c.3360T>G (p.Ala1120=) c.3408T>G (p.Ala1136=) c.3468T>G (p.Ala1156=) c.3018T>G (p.Ala1006=) c.1320T>G (p.Ala440=) c.1137T>G (p.Ala379=) c.3369T>G (p.Ala1123=) c.3321T>G (p.Ala1107=) c.3090T>G (p.Ala1030=) c.2991T>G (p.Ala997=) c.2172T>G (p.Ala724=) n.3723T>G | |
13 | g.51941133A>G | CA483893951 | ATP7B | c.*1154T>C (n.*1154T>C) c.*2248T>C (n.*2248T>C) c.2883T>C (p.Ala961=) c.3504T>C (p.Ala1168=) c.3171T>C (p.Ala1057=) c.3252T>C (p.Ala1084=) c.3270T>C (p.Ala1090=) n.3643T>C n.3867T>C c.2439T>C (p.Ala813=) c.2214T>C (p.Ala738=) c.3309T>C (p.Ala1103=) c.1282T>C c.*605T>C (n.*605T>C) n.4248T>C n.2849T>C c.3360T>C (p.Ala1120=) c.3408T>C (p.Ala1136=) c.3468T>C (p.Ala1156=) c.3018T>C (p.Ala1006=) c.1320T>C (p.Ala440=) c.1137T>C (p.Ala379=) c.3369T>C (p.Ala1123=) c.3321T>C (p.Ala1107=) c.3090T>C (p.Ala1030=) c.2991T>C (p.Ala997=) c.2172T>C (p.Ala724=) n.3723T>C | ClinVar gnomAD v4 |
13 | g.51941133A>T | CA6988670 | ATP7B | c.*1154T>A (n.*1154T>A) c.*2248T>A (n.*2248T>A) c.2883T>A (p.Ala961=) c.3504T>A (p.Ala1168=) c.3171T>A (p.Ala1057=) c.3252T>A (p.Ala1084=) c.3270T>A (p.Ala1090=) n.3643T>A n.3867T>A c.2439T>A (p.Ala813=) c.2214T>A (p.Ala738=) c.3309T>A (p.Ala1103=) c.1282T>A c.*605T>A (n.*605T>A) n.4248T>A n.2849T>A c.3360T>A (p.Ala1120=) c.3408T>A (p.Ala1136=) c.3468T>A (p.Ala1156=) c.3018T>A (p.Ala1006=) c.1320T>A (p.Ala440=) c.1137T>A (p.Ala379=) c.3369T>A (p.Ala1123=) c.3321T>A (p.Ala1107=) c.3090T>A (p.Ala1030=) c.2991T>A (p.Ala997=) c.2172T>A (p.Ala724=) n.3723T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51941134G>A | CA388026307 | ATP7B | c.*1153C>T (n.*1153C>T) c.*2247C>T (n.*2247C>T) c.2882C>T (p.Ala961Val) c.3503C>T (p.Ala1168Val) c.3170C>T (p.Ala1057Val) c.3251C>T (p.Ala1084Val) c.3269C>T (p.Ala1090Val) n.3642C>T n.3866C>T c.2438C>T (p.Ala813Val) c.2213C>T (p.Ala738Val) c.3308C>T (p.Ala1103Val) c.1281C>T c.*604C>T (n.*604C>T) n.4247C>T n.2848C>T c.3359C>T (p.Ala1120Val) c.3407C>T (p.Ala1136Val) c.3467C>T (p.Ala1156Val) c.3017C>T (p.Ala1006Val) c.1319C>T (p.Ala440Val) c.1136C>T (p.Ala379Val) c.3368C>T (p.Ala1123Val) c.3320C>T (p.Ala1107Val) c.3089C>T (p.Ala1030Val) c.2990C>T (p.Ala997Val) c.2171C>T (p.Ala724Val) n.3722C>T | |
13 | g.51941134G>C | CA388026305 | ATP7B | c.*1153C>G (n.*1153C>G) c.*2247C>G (n.*2247C>G) c.2882C>G (p.Ala961Gly) c.3503C>G (p.Ala1168Gly) c.3170C>G (p.Ala1057Gly) c.3251C>G (p.Ala1084Gly) c.3269C>G (p.Ala1090Gly) n.3642C>G n.3866C>G c.2438C>G (p.Ala813Gly) c.2213C>G (p.Ala738Gly) c.3308C>G (p.Ala1103Gly) c.1281C>G c.*604C>G (n.*604C>G) n.4247C>G n.2848C>G c.3359C>G (p.Ala1120Gly) c.3407C>G (p.Ala1136Gly) c.3467C>G (p.Ala1156Gly) c.3017C>G (p.Ala1006Gly) c.1319C>G (p.Ala440Gly) c.1136C>G (p.Ala379Gly) c.3368C>G (p.Ala1123Gly) c.3320C>G (p.Ala1107Gly) c.3089C>G (p.Ala1030Gly) c.2990C>G (p.Ala997Gly) c.2171C>G (p.Ala724Gly) n.3722C>G | |
13 | g.51941134G>T | CA388026303 | ATP7B | c.*1153C>A (n.*1153C>A) c.*2247C>A (n.*2247C>A) c.2882C>A (p.Ala961Asp) c.3503C>A (p.Ala1168Asp) c.3170C>A (p.Ala1057Asp) c.3251C>A (p.Ala1084Asp) c.3269C>A (p.Ala1090Asp) n.3642C>A n.3866C>A c.2438C>A (p.Ala813Asp) c.2213C>A (p.Ala738Asp) c.3308C>A (p.Ala1103Asp) c.1281C>A c.*604C>A (n.*604C>A) n.4247C>A n.2848C>A c.3359C>A (p.Ala1120Asp) c.3407C>A (p.Ala1136Asp) c.3467C>A (p.Ala1156Asp) c.3017C>A (p.Ala1006Asp) c.1319C>A (p.Ala440Asp) c.1136C>A (p.Ala379Asp) c.3368C>A (p.Ala1123Asp) c.3320C>A (p.Ala1107Asp) c.3089C>A (p.Ala1030Asp) c.2990C>A (p.Ala997Asp) c.2171C>A (p.Ala724Asp) n.3722C>A | gnomAD v4 |
13 | g.51941135C>A | CA6988672 | ATP7B | c.*1152G>T (n.*1152G>T) c.*2246G>T (n.*2246G>T) c.2881G>T (p.Ala961Ser) c.3502G>T (p.Ala1168Ser) c.3169G>T (p.Ala1057Ser) c.3250G>T (p.Ala1084Ser) c.3268G>T (p.Ala1090Ser) n.3641G>T n.3865G>T c.2437G>T (p.Ala813Ser) c.2212G>T (p.Ala738Ser) c.3307G>T (p.Ala1103Ser) c.1280G>T c.*603G>T (n.*603G>T) n.4246G>T n.2847G>T c.3358G>T (p.Ala1120Ser) c.3406G>T (p.Ala1136Ser) c.3466G>T (p.Ala1156Ser) c.3016G>T (p.Ala1006Ser) c.1318G>T (p.Ala440Ser) c.1135G>T (p.Ala379Ser) c.3367G>T (p.Ala1123Ser) c.3319G>T (p.Ala1107Ser) c.3088G>T (p.Ala1030Ser) c.2989G>T (p.Ala997Ser) c.2170G>T (p.Ala724Ser) n.3721G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51941135C= | CA2091559442 | ATP7B | c.*1152G= (n.*1152G=) c.*2246G= (n.*2246G=) c.2881G= (p.Ala961=) c.3502G= (p.Ala1168=) c.3169G= (p.Ala1057=) c.3250G= (p.Ala1084=) c.3268G= (p.Ala1090=) n.3641G= n.3865G= c.2437G= (p.Ala813=) c.2212G= (p.Ala738=) c.3307G= (p.Ala1103=) c.1280G= c.*603G= (n.*603G=) n.4246G= n.2847G= c.3358G= (p.Ala1120=) c.3406G= (p.Ala1136=) c.3466G= (p.Ala1156=) c.3016G= (p.Ala1006=) c.1318G= (p.Ala440=) c.1135G= (p.Ala379=) c.3367G= (p.Ala1123=) c.3319G= (p.Ala1107=) c.3088G= (p.Ala1030=) c.2989G= (p.Ala997=) c.2170G= (p.Ala724=) n.3721G= | |
13 | g.51941135C>G | CA388026312 | ATP7B | c.*1152G>C (n.*1152G>C) c.*2246G>C (n.*2246G>C) c.2881G>C (p.Ala961Pro) c.3502G>C (p.Ala1168Pro) c.3169G>C (p.Ala1057Pro) c.3250G>C (p.Ala1084Pro) c.3268G>C (p.Ala1090Pro) n.3641G>C n.3865G>C c.2437G>C (p.Ala813Pro) c.2212G>C (p.Ala738Pro) c.3307G>C (p.Ala1103Pro) c.1280G>C c.*603G>C (n.*603G>C) n.4246G>C n.2847G>C c.3358G>C (p.Ala1120Pro) c.3406G>C (p.Ala1136Pro) c.3466G>C (p.Ala1156Pro) c.3016G>C (p.Ala1006Pro) c.1318G>C (p.Ala440Pro) c.1135G>C (p.Ala379Pro) c.3367G>C (p.Ala1123Pro) c.3319G>C (p.Ala1107Pro) c.3088G>C (p.Ala1030Pro) c.2989G>C (p.Ala997Pro) c.2170G>C (p.Ala724Pro) n.3721G>C | |
13 | g.51941135C>T | CA6988671 | ATP7B | c.*1152G>A (n.*1152G>A) c.*2246G>A (n.*2246G>A) c.2881G>A (p.Ala961Thr) c.3502G>A (p.Ala1168Thr) c.3169G>A (p.Ala1057Thr) c.3250G>A (p.Ala1084Thr) c.3268G>A (p.Ala1090Thr) n.3641G>A n.3865G>A c.2437G>A (p.Ala813Thr) c.2212G>A (p.Ala738Thr) c.3307G>A (p.Ala1103Thr) c.1280G>A c.*603G>A (n.*603G>A) n.4246G>A n.2847G>A c.3358G>A (p.Ala1120Thr) c.3406G>A (p.Ala1136Thr) c.3466G>A (p.Ala1156Thr) c.3016G>A (p.Ala1006Thr) c.1318G>A (p.Ala440Thr) c.1135G>A (p.Ala379Thr) c.3367G>A (p.Ala1123Thr) c.3319G>A (p.Ala1107Thr) c.3088G>A (p.Ala1030Thr) c.2989G>A (p.Ala997Thr) c.2170G>A (p.Ala724Thr) n.3721G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.51941136G>A | CA6988673 | ATP7B | c.*1151C>T (n.*1151C>T) c.*2245C>T (n.*2245C>T) c.2880C>T (p.Asp960=) c.3501C>T (p.Asp1167=) c.3168C>T (p.Asp1056=) c.3249C>T (p.Asp1083=) c.3267C>T (p.Asp1089=) n.3640C>T n.3864C>T c.2436C>T (p.Asp812=) c.2211C>T (p.Asp737=) c.3306C>T (p.Asp1102=) c.1279C>T c.*602C>T (n.*602C>T) n.4245C>T n.2846C>T c.3357C>T (p.Asp1119=) c.3405C>T (p.Asp1135=) c.3465C>T (p.Asp1155=) c.3015C>T (p.Asp1005=) c.1317C>T (p.Asp439=) c.1134C>T (p.Asp378=) c.3366C>T (p.Asp1122=) c.3318C>T (p.Asp1106=) c.3087C>T (p.Asp1029=) c.2988C>T (p.Asp996=) c.2169C>T (p.Asp723=) n.3720C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51941136G>C | CA388026317 | ATP7B | c.*1151C>G (n.*1151C>G) c.*2245C>G (n.*2245C>G) c.2880C>G (p.Asp960Glu) c.3501C>G (p.Asp1167Glu) c.3168C>G (p.Asp1056Glu) c.3249C>G (p.Asp1083Glu) c.3267C>G (p.Asp1089Glu) n.3640C>G n.3864C>G c.2436C>G (p.Asp812Glu) c.2211C>G (p.Asp737Glu) c.3306C>G (p.Asp1102Glu) c.1279C>G c.*602C>G (n.*602C>G) n.4245C>G n.2846C>G c.3357C>G (p.Asp1119Glu) c.3405C>G (p.Asp1135Glu) c.3465C>G (p.Asp1155Glu) c.3015C>G (p.Asp1005Glu) c.1317C>G (p.Asp439Glu) c.1134C>G (p.Asp378Glu) c.3366C>G (p.Asp1122Glu) c.3318C>G (p.Asp1106Glu) c.3087C>G (p.Asp1029Glu) c.2988C>G (p.Asp996Glu) c.2169C>G (p.Asp723Glu) n.3720C>G | |
13 | g.51941136G= | CA2091559445 | ATP7B | c.*1151C= (n.*1151C=) c.*2245C= (n.*2245C=) c.2880C= (p.Asp960=) c.3501C= (p.Asp1167=) c.3168C= (p.Asp1056=) c.3249C= (p.Asp1083=) c.3267C= (p.Asp1089=) n.3640C= n.3864C= c.2436C= (p.Asp812=) c.2211C= (p.Asp737=) c.3306C= (p.Asp1102=) c.1279C= c.*602C= (n.*602C=) n.4245C= n.2846C= c.3357C= (p.Asp1119=) c.3405C= (p.Asp1135=) c.3465C= (p.Asp1155=) c.3015C= (p.Asp1005=) c.1317C= (p.Asp439=) c.1134C= (p.Asp378=) c.3366C= (p.Asp1122=) c.3318C= (p.Asp1106=) c.3087C= (p.Asp1029=) c.2988C= (p.Asp996=) c.2169C= (p.Asp723=) n.3720C= | |
13 | g.51941136G>T | CA388026319 | ATP7B | c.*1151C>A (n.*1151C>A) c.*2245C>A (n.*2245C>A) c.2880C>A (p.Asp960Glu) c.3501C>A (p.Asp1167Glu) c.3168C>A (p.Asp1056Glu) c.3249C>A (p.Asp1083Glu) c.3267C>A (p.Asp1089Glu) n.3640C>A n.3864C>A c.2436C>A (p.Asp812Glu) c.2211C>A (p.Asp737Glu) c.3306C>A (p.Asp1102Glu) c.1279C>A c.*602C>A (n.*602C>A) n.4245C>A n.2846C>A c.3357C>A (p.Asp1119Glu) c.3405C>A (p.Asp1135Glu) c.3465C>A (p.Asp1155Glu) c.3015C>A (p.Asp1005Glu) c.1317C>A (p.Asp439Glu) c.1134C>A (p.Asp378Glu) c.3366C>A (p.Asp1122Glu) c.3318C>A (p.Asp1106Glu) c.3087C>A (p.Asp1029Glu) c.2988C>A (p.Asp996Glu) c.2169C>A (p.Asp723Glu) n.3720C>A | |
13 | g.51941137T>A | CA388026323 | ATP7B | c.*1150A>T (n.*1150A>T) c.*2244A>T (n.*2244A>T) c.2879A>T (p.Asp960Val) c.3500A>T (p.Asp1167Val) c.3167A>T (p.Asp1056Val) c.3248A>T (p.Asp1083Val) c.3266A>T (p.Asp1089Val) n.3639A>T n.3863A>T c.2435A>T (p.Asp812Val) c.2210A>T (p.Asp737Val) c.3305A>T (p.Asp1102Val) c.1278A>T c.*601A>T (n.*601A>T) n.4244A>T n.2845A>T c.3356A>T (p.Asp1119Val) c.3404A>T (p.Asp1135Val) c.3464A>T (p.Asp1155Val) c.3014A>T (p.Asp1005Val) c.1316A>T (p.Asp439Val) c.1133A>T (p.Asp378Val) c.3365A>T (p.Asp1122Val) c.3317A>T (p.Asp1106Val) c.3086A>T (p.Asp1029Val) c.2987A>T (p.Asp996Val) c.2168A>T (p.Asp723Val) n.3719A>T | |
13 | g.51941137T>C | CA388026326 | ATP7B | c.*1150A>G (n.*1150A>G) c.*2244A>G (n.*2244A>G) c.2879A>G (p.Asp960Gly) c.3500A>G (p.Asp1167Gly) c.3167A>G (p.Asp1056Gly) c.3248A>G (p.Asp1083Gly) c.3266A>G (p.Asp1089Gly) n.3639A>G n.3863A>G c.2435A>G (p.Asp812Gly) c.2210A>G (p.Asp737Gly) c.3305A>G (p.Asp1102Gly) c.1278A>G c.*601A>G (n.*601A>G) n.4244A>G n.2845A>G c.3356A>G (p.Asp1119Gly) c.3404A>G (p.Asp1135Gly) c.3464A>G (p.Asp1155Gly) c.3014A>G (p.Asp1005Gly) c.1316A>G (p.Asp439Gly) c.1133A>G (p.Asp378Gly) c.3365A>G (p.Asp1122Gly) c.3317A>G (p.Asp1106Gly) c.3086A>G (p.Asp1029Gly) c.2987A>G (p.Asp996Gly) c.2168A>G (p.Asp723Gly) n.3719A>G | |
13 | g.51941137T>G | CA388026332 | ATP7B | c.*1150A>C (n.*1150A>C) c.*2244A>C (n.*2244A>C) c.2879A>C (p.Asp960Ala) c.3500A>C (p.Asp1167Ala) c.3167A>C (p.Asp1056Ala) c.3248A>C (p.Asp1083Ala) c.3266A>C (p.Asp1089Ala) n.3639A>C n.3863A>C c.2435A>C (p.Asp812Ala) c.2210A>C (p.Asp737Ala) c.3305A>C (p.Asp1102Ala) c.1278A>C c.*601A>C (n.*601A>C) n.4244A>C n.2845A>C c.3356A>C (p.Asp1119Ala) c.3404A>C (p.Asp1135Ala) c.3464A>C (p.Asp1155Ala) c.3014A>C (p.Asp1005Ala) c.1316A>C (p.Asp439Ala) c.1133A>C (p.Asp378Ala) c.3365A>C (p.Asp1122Ala) c.3317A>C (p.Asp1106Ala) c.3086A>C (p.Asp1029Ala) c.2987A>C (p.Asp996Ala) c.2168A>C (p.Asp723Ala) n.3719A>C | |
13 | g.51941138C>A | CA388026334 | ATP7B | c.*1149G>T (n.*1149G>T) c.*2243G>T (n.*2243G>T) c.2878G>T (p.Asp960Tyr) c.3499G>T (p.Asp1167Tyr) c.3166G>T (p.Asp1056Tyr) c.3247G>T (p.Asp1083Tyr) c.3265G>T (p.Asp1089Tyr) n.3638G>T n.3862G>T c.2434G>T (p.Asp812Tyr) c.2209G>T (p.Asp737Tyr) c.3304G>T (p.Asp1102Tyr) c.1277G>T c.*600G>T (n.*600G>T) n.4243G>T n.2844G>T c.3355G>T (p.Asp1119Tyr) c.3403G>T (p.Asp1135Tyr) c.3463G>T (p.Asp1155Tyr) c.3013G>T (p.Asp1005Tyr) c.1315G>T (p.Asp439Tyr) c.1132G>T (p.Asp378Tyr) c.3364G>T (p.Asp1122Tyr) c.3316G>T (p.Asp1106Tyr) c.3085G>T (p.Asp1029Tyr) c.2986G>T (p.Asp996Tyr) c.2167G>T (p.Asp723Tyr) n.3718G>T | |
13 | g.51941138C>G | CA388026336 | ATP7B | c.*1149G>C (n.*1149G>C) c.*2243G>C (n.*2243G>C) c.2878G>C (p.Asp960His) c.3499G>C (p.Asp1167His) c.3166G>C (p.Asp1056His) c.3247G>C (p.Asp1083His) c.3265G>C (p.Asp1089His) n.3638G>C n.3862G>C c.2434G>C (p.Asp812His) c.2209G>C (p.Asp737His) c.3304G>C (p.Asp1102His) c.1277G>C c.*600G>C (n.*600G>C) n.4243G>C n.2844G>C c.3355G>C (p.Asp1119His) c.3403G>C (p.Asp1135His) c.3463G>C (p.Asp1155His) c.3013G>C (p.Asp1005His) c.1315G>C (p.Asp439His) c.1132G>C (p.Asp378His) c.3364G>C (p.Asp1122His) c.3316G>C (p.Asp1106His) c.3085G>C (p.Asp1029His) c.2986G>C (p.Asp996His) c.2167G>C (p.Asp723His) n.3718G>C | |
13 | g.51941138C>T | CA388026338 | ATP7B | c.*1149G>A (n.*1149G>A) c.*2243G>A (n.*2243G>A) c.2878G>A (p.Asp960Asn) c.3499G>A (p.Asp1167Asn) c.3166G>A (p.Asp1056Asn) c.3247G>A (p.Asp1083Asn) c.3265G>A (p.Asp1089Asn) n.3638G>A n.3862G>A c.2434G>A (p.Asp812Asn) c.2209G>A (p.Asp737Asn) c.3304G>A (p.Asp1102Asn) c.1277G>A c.*600G>A (n.*600G>A) n.4243G>A n.2844G>A c.3355G>A (p.Asp1119Asn) c.3403G>A (p.Asp1135Asn) c.3463G>A (p.Asp1155Asn) c.3013G>A (p.Asp1005Asn) c.1315G>A (p.Asp439Asn) c.1132G>A (p.Asp378Asn) c.3364G>A (p.Asp1122Asn) c.3316G>A (p.Asp1106Asn) c.3085G>A (p.Asp1029Asn) c.2986G>A (p.Asp996Asn) c.2167G>A (p.Asp723Asn) n.3718G>A | |
13 | g.51941139A= | CA2091559450 | ATP7B | c.*1148T= (n.*1148T=) c.*2242T= (n.*2242T=) c.2877T= (p.Ser959=) c.3498T= (p.Ser1166=) c.3165T= (p.Ser1055=) c.3246T= (p.Ser1082=) c.3264T= (p.Ser1088=) n.3637T= n.3861T= c.2433T= (p.Ser811=) c.2208T= (p.Ser736=) c.3303T= (p.Ser1101=) c.1276T= c.*599T= (n.*599T=) n.4242T= n.2843T= c.3354T= (p.Ser1118=) c.3402T= (p.Ser1134=) c.3462T= (p.Ser1154=) c.3012T= (p.Ser1004=) c.1314T= (p.Ser438=) c.1131T= (p.Ser377=) c.3363T= (p.Ser1121=) c.3315T= (p.Ser1105=) c.3084T= (p.Ser1028=) c.2985T= (p.Ser995=) c.2166T= (p.Ser722=) n.3717T= | |
13 | g.51941139A>C | CA388026352 | ATP7B | c.*1148T>G (n.*1148T>G) c.*2242T>G (n.*2242T>G) c.2877T>G (p.Ser959Arg) c.3498T>G (p.Ser1166Arg) c.3165T>G (p.Ser1055Arg) c.3246T>G (p.Ser1082Arg) c.3264T>G (p.Ser1088Arg) n.3637T>G n.3861T>G c.2433T>G (p.Ser811Arg) c.2208T>G (p.Ser736Arg) c.3303T>G (p.Ser1101Arg) c.1276T>G c.*599T>G (n.*599T>G) n.4242T>G n.2843T>G c.3354T>G (p.Ser1118Arg) c.3402T>G (p.Ser1134Arg) c.3462T>G (p.Ser1154Arg) c.3012T>G (p.Ser1004Arg) c.1314T>G (p.Ser438Arg) c.1131T>G (p.Ser377Arg) c.3363T>G (p.Ser1121Arg) c.3315T>G (p.Ser1105Arg) c.3084T>G (p.Ser1028Arg) c.2985T>G (p.Ser995Arg) c.2166T>G (p.Ser722Arg) n.3717T>G | |
13 | g.51941139A>G | CA171319 | ATP7B | c.*1148T>C (n.*1148T>C) c.*2242T>C (n.*2242T>C) c.2877T>C (p.Ser959=) c.3498T>C (p.Ser1166=) c.3165T>C (p.Ser1055=) c.3246T>C (p.Ser1082=) c.3264T>C (p.Ser1088=) n.3637T>C n.3861T>C c.2433T>C (p.Ser811=) c.2208T>C (p.Ser736=) c.3303T>C (p.Ser1101=) c.1276T>C c.*599T>C (n.*599T>C) n.4242T>C n.2843T>C c.3354T>C (p.Ser1118=) c.3402T>C (p.Ser1134=) c.3462T>C (p.Ser1154=) c.3012T>C (p.Ser1004=) c.1314T>C (p.Ser438=) c.1131T>C (p.Ser377=) c.3363T>C (p.Ser1121=) c.3315T>C (p.Ser1105=) c.3084T>C (p.Ser1028=) c.2985T>C (p.Ser995=) c.2166T>C (p.Ser722=) n.3717T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51941139A>T | CA388026349 | ATP7B | c.*1148T>A (n.*1148T>A) c.*2242T>A (n.*2242T>A) c.2877T>A (p.Ser959Arg) c.3498T>A (p.Ser1166Arg) c.3165T>A (p.Ser1055Arg) c.3246T>A (p.Ser1082Arg) c.3264T>A (p.Ser1088Arg) n.3637T>A n.3861T>A c.2433T>A (p.Ser811Arg) c.2208T>A (p.Ser736Arg) c.3303T>A (p.Ser1101Arg) c.1276T>A c.*599T>A (n.*599T>A) n.4242T>A n.2843T>A c.3354T>A (p.Ser1118Arg) c.3402T>A (p.Ser1134Arg) c.3462T>A (p.Ser1154Arg) c.3012T>A (p.Ser1004Arg) c.1314T>A (p.Ser438Arg) c.1131T>A (p.Ser377Arg) c.3363T>A (p.Ser1121Arg) c.3315T>A (p.Ser1105Arg) c.3084T>A (p.Ser1028Arg) c.2985T>A (p.Ser995Arg) c.2166T>A (p.Ser722Arg) n.3717T>A | |
13 | g.51941140C>A | CA388026356 | ATP7B | c.*1147G>T (n.*1147G>T) c.*2241G>T (n.*2241G>T) c.2876G>T (p.Ser959Ile) c.3497G>T (p.Ser1166Ile) c.3164G>T (p.Ser1055Ile) c.3245G>T (p.Ser1082Ile) c.3263G>T (p.Ser1088Ile) n.3636G>T n.3860G>T c.2432G>T (p.Ser811Ile) c.2207G>T (p.Ser736Ile) c.3302G>T (p.Ser1101Ile) c.1275G>T c.*598G>T (n.*598G>T) n.4241G>T n.2842G>T c.3353G>T (p.Ser1118Ile) c.3401G>T (p.Ser1134Ile) c.3461G>T (p.Ser1154Ile) c.3011G>T (p.Ser1004Ile) c.1313G>T (p.Ser438Ile) c.1130G>T (p.Ser377Ile) c.3362G>T (p.Ser1121Ile) c.3314G>T (p.Ser1105Ile) c.3083G>T (p.Ser1028Ile) c.2984G>T (p.Ser995Ile) c.2165G>T (p.Ser722Ile) n.3716G>T | dbSNP gnomAD v2 |
13 | g.51941140C= | CA2091559453 | ATP7B | c.*1147G= (n.*1147G=) c.*2241G= (n.*2241G=) c.2876G= (p.Ser959=) c.3497G= (p.Ser1166=) c.3164G= (p.Ser1055=) c.3245G= (p.Ser1082=) c.3263G= (p.Ser1088=) n.3636G= n.3860G= c.2432G= (p.Ser811=) c.2207G= (p.Ser736=) c.3302G= (p.Ser1101=) c.1275G= c.*598G= (n.*598G=) n.4241G= n.2842G= c.3353G= (p.Ser1118=) c.3401G= (p.Ser1134=) c.3461G= (p.Ser1154=) c.3011G= (p.Ser1004=) c.1313G= (p.Ser438=) c.1130G= (p.Ser377=) c.3362G= (p.Ser1121=) c.3314G= (p.Ser1105=) c.3083G= (p.Ser1028=) c.2984G= (p.Ser995=) c.2165G= (p.Ser722=) n.3716G= | |
13 | g.51941140C>G | CA388026357 | ATP7B | c.*1147G>C (n.*1147G>C) c.*2241G>C (n.*2241G>C) c.2876G>C (p.Ser959Thr) c.3497G>C (p.Ser1166Thr) c.3164G>C (p.Ser1055Thr) c.3245G>C (p.Ser1082Thr) c.3263G>C (p.Ser1088Thr) n.3636G>C n.3860G>C c.2432G>C (p.Ser811Thr) c.2207G>C (p.Ser736Thr) c.3302G>C (p.Ser1101Thr) c.1275G>C c.*598G>C (n.*598G>C) n.4241G>C n.2842G>C c.3353G>C (p.Ser1118Thr) c.3401G>C (p.Ser1134Thr) c.3461G>C (p.Ser1154Thr) c.3011G>C (p.Ser1004Thr) c.1313G>C (p.Ser438Thr) c.1130G>C (p.Ser377Thr) c.3362G>C (p.Ser1121Thr) c.3314G>C (p.Ser1105Thr) c.3083G>C (p.Ser1028Thr) c.2984G>C (p.Ser995Thr) c.2165G>C (p.Ser722Thr) n.3716G>C | |
13 | g.51941140C>T | CA388026360 | ATP7B | c.*1147G>A (n.*1147G>A) c.*2241G>A (n.*2241G>A) c.2876G>A (p.Ser959Asn) c.3497G>A (p.Ser1166Asn) c.3164G>A (p.Ser1055Asn) c.3245G>A (p.Ser1082Asn) c.3263G>A (p.Ser1088Asn) n.3636G>A n.3860G>A c.2432G>A (p.Ser811Asn) c.2207G>A (p.Ser736Asn) c.3302G>A (p.Ser1101Asn) c.1275G>A c.*598G>A (n.*598G>A) n.4241G>A n.2842G>A c.3353G>A (p.Ser1118Asn) c.3401G>A (p.Ser1134Asn) c.3461G>A (p.Ser1154Asn) c.3011G>A (p.Ser1004Asn) c.1313G>A (p.Ser438Asn) c.1130G>A (p.Ser377Asn) c.3362G>A (p.Ser1121Asn) c.3314G>A (p.Ser1105Asn) c.3083G>A (p.Ser1028Asn) c.2984G>A (p.Ser995Asn) c.2165G>A (p.Ser722Asn) n.3716G>A | |
13 | g.51941141T>A | CA388026363 | ATP7B | c.*1146A>T (n.*1146A>T) c.*2240A>T (n.*2240A>T) c.2875A>T (p.Ser959Cys) c.3496A>T (p.Ser1166Cys) c.3163A>T (p.Ser1055Cys) c.3244A>T (p.Ser1082Cys) c.3262A>T (p.Ser1088Cys) n.3635A>T n.3859A>T c.2431A>T (p.Ser811Cys) c.2206A>T (p.Ser736Cys) c.3301A>T (p.Ser1101Cys) c.1274A>T c.*597A>T (n.*597A>T) n.4240A>T n.2841A>T c.3352A>T (p.Ser1118Cys) c.3400A>T (p.Ser1134Cys) c.3460A>T (p.Ser1154Cys) c.3010A>T (p.Ser1004Cys) c.1312A>T (p.Ser438Cys) c.1129A>T (p.Ser377Cys) c.3361A>T (p.Ser1121Cys) c.3313A>T (p.Ser1105Cys) c.3082A>T (p.Ser1028Cys) c.2983A>T (p.Ser995Cys) c.2164A>T (p.Ser722Cys) n.3715A>T | |
13 | g.51941141T>C | CA388026368 | ATP7B | c.*1146A>G (n.*1146A>G) c.*2240A>G (n.*2240A>G) c.2875A>G (p.Ser959Gly) c.3496A>G (p.Ser1166Gly) c.3163A>G (p.Ser1055Gly) c.3244A>G (p.Ser1082Gly) c.3262A>G (p.Ser1088Gly) n.3635A>G n.3859A>G c.2431A>G (p.Ser811Gly) c.2206A>G (p.Ser736Gly) c.3301A>G (p.Ser1101Gly) c.1274A>G c.*597A>G (n.*597A>G) n.4240A>G n.2841A>G c.3352A>G (p.Ser1118Gly) c.3400A>G (p.Ser1134Gly) c.3460A>G (p.Ser1154Gly) c.3010A>G (p.Ser1004Gly) c.1312A>G (p.Ser438Gly) c.1129A>G (p.Ser377Gly) c.3361A>G (p.Ser1121Gly) c.3313A>G (p.Ser1105Gly) c.3082A>G (p.Ser1028Gly) c.2983A>G (p.Ser995Gly) c.2164A>G (p.Ser722Gly) n.3715A>G | |
13 | g.51941141T>G | CA388026370 | ATP7B | c.*1146A>C (n.*1146A>C) c.*2240A>C (n.*2240A>C) c.2875A>C (p.Ser959Arg) c.3496A>C (p.Ser1166Arg) c.3163A>C (p.Ser1055Arg) c.3244A>C (p.Ser1082Arg) c.3262A>C (p.Ser1088Arg) n.3635A>C n.3859A>C c.2431A>C (p.Ser811Arg) c.2206A>C (p.Ser736Arg) c.3301A>C (p.Ser1101Arg) c.1274A>C c.*597A>C (n.*597A>C) n.4240A>C n.2841A>C c.3352A>C (p.Ser1118Arg) c.3400A>C (p.Ser1134Arg) c.3460A>C (p.Ser1154Arg) c.3010A>C (p.Ser1004Arg) c.1312A>C (p.Ser438Arg) c.1129A>C (p.Ser377Arg) c.3361A>C (p.Ser1121Arg) c.3313A>C (p.Ser1105Arg) c.3082A>C (p.Ser1028Arg) c.2983A>C (p.Ser995Arg) c.2164A>C (p.Ser722Arg) n.3715A>C | |
13 | g.51941142G>A | CA483893952 | ATP7B | c.*1145C>T (n.*1145C>T) c.*2239C>T (n.*2239C>T) c.2874C>T (p.Val958=) c.3495C>T (p.Val1165=) c.3162C>T (p.Val1054=) c.3243C>T (p.Val1081=) c.3261C>T (p.Val1087=) n.3634C>T n.3858C>T c.2430C>T (p.Val810=) c.2205C>T (p.Val735=) c.3300C>T (p.Val1100=) c.1273C>T c.*596C>T (n.*596C>T) n.4239C>T n.2840C>T c.3351C>T (p.Val1117=) c.3399C>T (p.Val1133=) c.3459C>T (p.Val1153=) c.3009C>T (p.Val1003=) c.1311C>T (p.Val437=) c.1128C>T (p.Val376=) c.3360C>T (p.Val1120=) c.3312C>T (p.Val1104=) c.3081C>T (p.Val1027=) c.2982C>T (p.Val994=) c.2163C>T (p.Val721=) n.3714C>T | dbSNP |
13 | g.51941142G>C | CA483893954 | ATP7B | c.*1145C>G (n.*1145C>G) c.*2239C>G (n.*2239C>G) c.2874C>G (p.Val958=) c.3495C>G (p.Val1165=) c.3162C>G (p.Val1054=) c.3243C>G (p.Val1081=) c.3261C>G (p.Val1087=) n.3634C>G n.3858C>G c.2430C>G (p.Val810=) c.2205C>G (p.Val735=) c.3300C>G (p.Val1100=) c.1273C>G c.*596C>G (n.*596C>G) n.4239C>G n.2840C>G c.3351C>G (p.Val1117=) c.3399C>G (p.Val1133=) c.3459C>G (p.Val1153=) c.3009C>G (p.Val1003=) c.1311C>G (p.Val437=) c.1128C>G (p.Val376=) c.3360C>G (p.Val1120=) c.3312C>G (p.Val1104=) c.3081C>G (p.Val1027=) c.2982C>G (p.Val994=) c.2163C>G (p.Val721=) n.3714C>G | |
13 | g.51941142G= | CA2091559456 | ATP7B | c.*1145C= (n.*1145C=) c.*2239C= (n.*2239C=) c.2874C= (p.Val958=) c.3495C= (p.Val1165=) c.3162C= (p.Val1054=) c.3243C= (p.Val1081=) c.3261C= (p.Val1087=) n.3634C= n.3858C= c.2430C= (p.Val810=) c.2205C= (p.Val735=) c.3300C= (p.Val1100=) c.1273C= c.*596C= (n.*596C=) n.4239C= n.2840C= c.3351C= (p.Val1117=) c.3399C= (p.Val1133=) c.3459C= (p.Val1153=) c.3009C= (p.Val1003=) c.1311C= (p.Val437=) c.1128C= (p.Val376=) c.3360C= (p.Val1120=) c.3312C= (p.Val1104=) c.3081C= (p.Val1027=) c.2982C= (p.Val994=) c.2163C= (p.Val721=) n.3714C= | |
13 | g.51941142G>T | CA483893953 | ATP7B | c.*1145C>A (n.*1145C>A) c.*2239C>A (n.*2239C>A) c.2874C>A (p.Val958=) c.3495C>A (p.Val1165=) c.3162C>A (p.Val1054=) c.3243C>A (p.Val1081=) c.3261C>A (p.Val1087=) n.3634C>A n.3858C>A c.2430C>A (p.Val810=) c.2205C>A (p.Val735=) c.3300C>A (p.Val1100=) c.1273C>A c.*596C>A (n.*596C>A) n.4239C>A n.2840C>A c.3351C>A (p.Val1117=) c.3399C>A (p.Val1133=) c.3459C>A (p.Val1153=) c.3009C>A (p.Val1003=) c.1311C>A (p.Val437=) c.1128C>A (p.Val376=) c.3360C>A (p.Val1120=) c.3312C>A (p.Val1104=) c.3081C>A (p.Val1027=) c.2982C>A (p.Val994=) c.2163C>A (p.Val721=) n.3714C>A | |
13 | g.51941143A>C | CA388026375 | ATP7B | c.*1144T>G (n.*1144T>G) c.*2238T>G (n.*2238T>G) c.2873T>G (p.Val958Gly) c.3494T>G (p.Val1165Gly) c.3161T>G (p.Val1054Gly) c.3242T>G (p.Val1081Gly) c.3260T>G (p.Val1087Gly) n.3633T>G n.3857T>G c.2429T>G (p.Val810Gly) c.2204T>G (p.Val735Gly) c.3299T>G (p.Val1100Gly) c.1272T>G c.*595T>G (n.*595T>G) n.4238T>G n.2839T>G c.3350T>G (p.Val1117Gly) c.3398T>G (p.Val1133Gly) c.3458T>G (p.Val1153Gly) c.3008T>G (p.Val1003Gly) c.1310T>G (p.Val437Gly) c.1127T>G (p.Val376Gly) c.3359T>G (p.Val1120Gly) c.3311T>G (p.Val1104Gly) c.3080T>G (p.Val1027Gly) c.2981T>G (p.Val994Gly) c.2162T>G (p.Val721Gly) n.3713T>G | |
13 | g.51941143A>G | CA388026376 | ATP7B | c.*1144T>C (n.*1144T>C) c.*2238T>C (n.*2238T>C) c.2873T>C (p.Val958Ala) c.3494T>C (p.Val1165Ala) c.3161T>C (p.Val1054Ala) c.3242T>C (p.Val1081Ala) c.3260T>C (p.Val1087Ala) n.3633T>C n.3857T>C c.2429T>C (p.Val810Ala) c.2204T>C (p.Val735Ala) c.3299T>C (p.Val1100Ala) c.1272T>C c.*595T>C (n.*595T>C) n.4238T>C n.2839T>C c.3350T>C (p.Val1117Ala) c.3398T>C (p.Val1133Ala) c.3458T>C (p.Val1153Ala) c.3008T>C (p.Val1003Ala) c.1310T>C (p.Val437Ala) c.1127T>C (p.Val376Ala) c.3359T>C (p.Val1120Ala) c.3311T>C (p.Val1104Ala) c.3080T>C (p.Val1027Ala) c.2981T>C (p.Val994Ala) c.2162T>C (p.Val721Ala) n.3713T>C | |
13 | g.51941143A>T | CA388026379 | ATP7B | c.*1144T>A (n.*1144T>A) c.*2238T>A (n.*2238T>A) c.2873T>A (p.Val958Asp) c.3494T>A (p.Val1165Asp) c.3161T>A (p.Val1054Asp) c.3242T>A (p.Val1081Asp) c.3260T>A (p.Val1087Asp) n.3633T>A n.3857T>A c.2429T>A (p.Val810Asp) c.2204T>A (p.Val735Asp) c.3299T>A (p.Val1100Asp) c.1272T>A c.*595T>A (n.*595T>A) n.4238T>A n.2839T>A c.3350T>A (p.Val1117Asp) c.3398T>A (p.Val1133Asp) c.3458T>A (p.Val1153Asp) c.3008T>A (p.Val1003Asp) c.1310T>A (p.Val437Asp) c.1127T>A (p.Val376Asp) c.3359T>A (p.Val1120Asp) c.3311T>A (p.Val1104Asp) c.3080T>A (p.Val1027Asp) c.2981T>A (p.Val994Asp) c.2162T>A (p.Val721Asp) n.3713T>A | |
13 | g.51941144C>A | CA388026380 | ATP7B | c.*1143G>T (n.*1143G>T) c.*2237G>T (n.*2237G>T) c.2872G>T (p.Val958Phe) c.3493G>T (p.Val1165Phe) c.3160G>T (p.Val1054Phe) c.3241G>T (p.Val1081Phe) c.3259G>T (p.Val1087Phe) n.3632G>T n.3856G>T c.2428G>T (p.Val810Phe) c.2203G>T (p.Val735Phe) c.3298G>T (p.Val1100Phe) c.1271G>T c.*594G>T (n.*594G>T) n.4237G>T n.2838G>T c.3349G>T (p.Val1117Phe) c.3397G>T (p.Val1133Phe) c.3457G>T (p.Val1153Phe) c.3007G>T (p.Val1003Phe) c.1309G>T (p.Val437Phe) c.1126G>T (p.Val376Phe) c.3358G>T (p.Val1120Phe) c.3310G>T (p.Val1104Phe) c.3079G>T (p.Val1027Phe) c.2980G>T (p.Val994Phe) c.2161G>T (p.Val721Phe) n.3712G>T | |
13 | g.51941144C= | CA2091559459 | ATP7B | c.*1143G= (n.*1143G=) c.*2237G= (n.*2237G=) c.2872G= (p.Val958=) c.3493G= (p.Val1165=) c.3160G= (p.Val1054=) c.3241G= (p.Val1081=) c.3259G= (p.Val1087=) n.3632G= n.3856G= c.2428G= (p.Val810=) c.2203G= (p.Val735=) c.3298G= (p.Val1100=) c.1271G= c.*594G= (n.*594G=) n.4237G= n.2838G= c.3349G= (p.Val1117=) c.3397G= (p.Val1133=) c.3457G= (p.Val1153=) c.3007G= (p.Val1003=) c.1309G= (p.Val437=) c.1126G= (p.Val376=) c.3358G= (p.Val1120=) c.3310G= (p.Val1104=) c.3079G= (p.Val1027=) c.2980G= (p.Val994=) c.2161G= (p.Val721=) n.3712G= | |
13 | g.51941144C>G | CA388026381 | ATP7B | c.*1143G>C (n.*1143G>C) c.*2237G>C (n.*2237G>C) c.2872G>C (p.Val958Leu) c.3493G>C (p.Val1165Leu) c.3160G>C (p.Val1054Leu) c.3241G>C (p.Val1081Leu) c.3259G>C (p.Val1087Leu) n.3632G>C n.3856G>C c.2428G>C (p.Val810Leu) c.2203G>C (p.Val735Leu) c.3298G>C (p.Val1100Leu) c.1271G>C c.*594G>C (n.*594G>C) n.4237G>C n.2838G>C c.3349G>C (p.Val1117Leu) c.3397G>C (p.Val1133Leu) c.3457G>C (p.Val1153Leu) c.3007G>C (p.Val1003Leu) c.1309G>C (p.Val437Leu) c.1126G>C (p.Val376Leu) c.3358G>C (p.Val1120Leu) c.3310G>C (p.Val1104Leu) c.3079G>C (p.Val1027Leu) c.2980G>C (p.Val994Leu) c.2161G>C (p.Val721Leu) n.3712G>C | |
13 | g.51941144C>T | CA250077221 | ATP7B | c.*1143G>A (n.*1143G>A) c.*2237G>A (n.*2237G>A) c.2872G>A (p.Val958Ile) c.3493G>A (p.Val1165Ile) c.3160G>A (p.Val1054Ile) c.3241G>A (p.Val1081Ile) c.3259G>A (p.Val1087Ile) n.3632G>A n.3856G>A c.2428G>A (p.Val810Ile) c.2203G>A (p.Val735Ile) c.3298G>A (p.Val1100Ile) c.1271G>A c.*594G>A (n.*594G>A) n.4237G>A n.2838G>A c.3349G>A (p.Val1117Ile) c.3397G>A (p.Val1133Ile) c.3457G>A (p.Val1153Ile) c.3007G>A (p.Val1003Ile) c.1309G>A (p.Val437Ile) c.1126G>A (p.Val376Ile) c.3358G>A (p.Val1120Ile) c.3310G>A (p.Val1104Ile) c.3079G>A (p.Val1027Ile) c.2980G>A (p.Val994Ile) c.2161G>A (p.Val721Ile) n.3712G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51941145A>C | CA388026383 | ATP7B | c.*1142T>G (n.*1142T>G) c.*2236T>G (n.*2236T>G) c.2871T>G (p.Asp957Glu) c.3492T>G (p.Asp1164Glu) c.3159T>G (p.Asp1053Glu) c.3240T>G (p.Asp1080Glu) c.3258T>G (p.Asp1086Glu) n.3631T>G n.3855T>G c.2427T>G (p.Asp809Glu) c.2202T>G (p.Asp734Glu) c.3297T>G (p.Asp1099Glu) c.1270T>G c.*593T>G (n.*593T>G) n.4236T>G n.2837T>G c.3348T>G (p.Asp1116Glu) c.3396T>G (p.Asp1132Glu) c.3456T>G (p.Asp1152Glu) c.3006T>G (p.Asp1002Glu) c.1308T>G (p.Asp436Glu) c.1125T>G (p.Asp375Glu) c.3357T>G (p.Asp1119Glu) c.3309T>G (p.Asp1103Glu) c.3078T>G (p.Asp1026Glu) c.2979T>G (p.Asp993Glu) c.2160T>G (p.Asp720Glu) n.3711T>G | |
13 | g.51941145A>G | CA483893956 | ATP7B | c.*1142T>C (n.*1142T>C) c.*2236T>C (n.*2236T>C) c.2871T>C (p.Asp957=) c.3492T>C (p.Asp1164=) c.3159T>C (p.Asp1053=) c.3240T>C (p.Asp1080=) c.3258T>C (p.Asp1086=) n.3631T>C n.3855T>C c.2427T>C (p.Asp809=) c.2202T>C (p.Asp734=) c.3297T>C (p.Asp1099=) c.1270T>C c.*593T>C (n.*593T>C) n.4236T>C n.2837T>C c.3348T>C (p.Asp1116=) c.3396T>C (p.Asp1132=) c.3456T>C (p.Asp1152=) c.3006T>C (p.Asp1002=) c.1308T>C (p.Asp436=) c.1125T>C (p.Asp375=) c.3357T>C (p.Asp1119=) c.3309T>C (p.Asp1103=) c.3078T>C (p.Asp1026=) c.2979T>C (p.Asp993=) c.2160T>C (p.Asp720=) n.3711T>C | ClinVar dbSNP gnomAD v4 |
13 | g.51941145A>T | CA388026386 | ATP7B | c.*1142T>A (n.*1142T>A) c.*2236T>A (n.*2236T>A) c.2871T>A (p.Asp957Glu) c.3492T>A (p.Asp1164Glu) c.3159T>A (p.Asp1053Glu) c.3240T>A (p.Asp1080Glu) c.3258T>A (p.Asp1086Glu) n.3631T>A n.3855T>A c.2427T>A (p.Asp809Glu) c.2202T>A (p.Asp734Glu) c.3297T>A (p.Asp1099Glu) c.1270T>A c.*593T>A (n.*593T>A) n.4236T>A n.2837T>A c.3348T>A (p.Asp1116Glu) c.3396T>A (p.Asp1132Glu) c.3456T>A (p.Asp1152Glu) c.3006T>A (p.Asp1002Glu) c.1308T>A (p.Asp436Glu) c.1125T>A (p.Asp375Glu) c.3357T>A (p.Asp1119Glu) c.3309T>A (p.Asp1103Glu) c.3078T>A (p.Asp1026Glu) c.2979T>A (p.Asp993Glu) c.2160T>A (p.Asp720Glu) n.3711T>A | |
13 | g.51941146T>A | CA388026388 | ATP7B | c.*1141A>T (n.*1141A>T) c.*2235A>T (n.*2235A>T) c.2870A>T (p.Asp957Val) c.3491A>T (p.Asp1164Val) c.3158A>T (p.Asp1053Val) c.3239A>T (p.Asp1080Val) c.3257A>T (p.Asp1086Val) n.3630A>T n.3854A>T c.2426A>T (p.Asp809Val) c.2201A>T (p.Asp734Val) c.3296A>T (p.Asp1099Val) c.1269A>T c.*592A>T (n.*592A>T) n.4235A>T n.2836A>T c.3347A>T (p.Asp1116Val) c.3395A>T (p.Asp1132Val) c.3455A>T (p.Asp1152Val) c.3005A>T (p.Asp1002Val) c.1307A>T (p.Asp436Val) c.1124A>T (p.Asp375Val) c.3356A>T (p.Asp1119Val) c.3308A>T (p.Asp1103Val) c.3077A>T (p.Asp1026Val) c.2978A>T (p.Asp993Val) c.2159A>T (p.Asp720Val) n.3710A>T | dbSNP gnomAD v4 |
13 | g.51941146T>C | CA388026392 | ATP7B | c.*1141A>G (n.*1141A>G) c.*2235A>G (n.*2235A>G) c.2870A>G (p.Asp957Gly) c.3491A>G (p.Asp1164Gly) c.3158A>G (p.Asp1053Gly) c.3239A>G (p.Asp1080Gly) c.3257A>G (p.Asp1086Gly) n.3630A>G n.3854A>G c.2426A>G (p.Asp809Gly) c.2201A>G (p.Asp734Gly) c.3296A>G (p.Asp1099Gly) c.1269A>G c.*592A>G (n.*592A>G) n.4235A>G n.2836A>G c.3347A>G (p.Asp1116Gly) c.3395A>G (p.Asp1132Gly) c.3455A>G (p.Asp1152Gly) c.3005A>G (p.Asp1002Gly) c.1307A>G (p.Asp436Gly) c.1124A>G (p.Asp375Gly) c.3356A>G (p.Asp1119Gly) c.3308A>G (p.Asp1103Gly) c.3077A>G (p.Asp1026Gly) c.2978A>G (p.Asp993Gly) c.2159A>G (p.Asp720Gly) n.3710A>G | dbSNP |
13 | g.51941146T>G | CA388026390 | ATP7B | c.*1141A>C (n.*1141A>C) c.*2235A>C (n.*2235A>C) c.2870A>C (p.Asp957Ala) c.3491A>C (p.Asp1164Ala) c.3158A>C (p.Asp1053Ala) c.3239A>C (p.Asp1080Ala) c.3257A>C (p.Asp1086Ala) n.3630A>C n.3854A>C c.2426A>C (p.Asp809Ala) c.2201A>C (p.Asp734Ala) c.3296A>C (p.Asp1099Ala) c.1269A>C c.*592A>C (n.*592A>C) n.4235A>C n.2836A>C c.3347A>C (p.Asp1116Ala) c.3395A>C (p.Asp1132Ala) c.3455A>C (p.Asp1152Ala) c.3005A>C (p.Asp1002Ala) c.1307A>C (p.Asp436Ala) c.1124A>C (p.Asp375Ala) c.3356A>C (p.Asp1119Ala) c.3308A>C (p.Asp1103Ala) c.3077A>C (p.Asp1026Ala) c.2978A>C (p.Asp993Ala) c.2159A>C (p.Asp720Ala) n.3710A>C | |
13 | g.51941146T= | CA2091559461 | ATP7B | c.*1141A= (n.*1141A=) c.*2235A= (n.*2235A=) c.2870A= (p.Asp957=) c.3491A= (p.Asp1164=) c.3158A= (p.Asp1053=) c.3239A= (p.Asp1080=) c.3257A= (p.Asp1086=) n.3630A= n.3854A= c.2426A= (p.Asp809=) c.2201A= (p.Asp734=) c.3296A= (p.Asp1099=) c.1269A= c.*592A= (n.*592A=) n.4235A= n.2836A= c.3347A= (p.Asp1116=) c.3395A= (p.Asp1132=) c.3455A= (p.Asp1152=) c.3005A= (p.Asp1002=) c.1307A= (p.Asp436=) c.1124A= (p.Asp375=) c.3356A= (p.Asp1119=) c.3308A= (p.Asp1103=) c.3077A= (p.Asp1026=) c.2978A= (p.Asp993=) c.2159A= (p.Asp720=) n.3710A= | |
13 | g.51941147C>A | CA388026393 | ATP7B | c.*1140G>T (n.*1140G>T) c.*2234G>T (n.*2234G>T) c.2869G>T (p.Asp957Tyr) c.3490G>T (p.Asp1164Tyr) c.3157G>T (p.Asp1053Tyr) c.3238G>T (p.Asp1080Tyr) c.3256G>T (p.Asp1086Tyr) n.3629G>T n.3853G>T c.2425G>T (p.Asp809Tyr) c.2200G>T (p.Asp734Tyr) c.3295G>T (p.Asp1099Tyr) c.1268G>T c.*591G>T (n.*591G>T) n.4234G>T n.2835G>T c.3346G>T (p.Asp1116Tyr) c.3394G>T (p.Asp1132Tyr) c.3454G>T (p.Asp1152Tyr) c.3004G>T (p.Asp1002Tyr) c.1306G>T (p.Asp436Tyr) c.1123G>T (p.Asp375Tyr) c.3355G>T (p.Asp1119Tyr) c.3307G>T (p.Asp1103Tyr) c.3076G>T (p.Asp1026Tyr) c.2977G>T (p.Asp993Tyr) c.2158G>T (p.Asp720Tyr) n.3709G>T | |
13 | g.51941147C= | CA2091559465 | ATP7B | c.*1140G= (n.*1140G=) c.*2234G= (n.*2234G=) c.2869G= (p.Asp957=) c.3490G= (p.Asp1164=) c.3157G= (p.Asp1053=) c.3238G= (p.Asp1080=) c.3256G= (p.Asp1086=) n.3629G= n.3853G= c.2425G= (p.Asp809=) c.2200G= (p.Asp734=) c.3295G= (p.Asp1099=) c.1268G= c.*591G= (n.*591G=) n.4234G= n.2835G= c.3346G= (p.Asp1116=) c.3394G= (p.Asp1132=) c.3454G= (p.Asp1152=) c.3004G= (p.Asp1002=) c.1306G= (p.Asp436=) c.1123G= (p.Asp375=) c.3355G= (p.Asp1119=) c.3307G= (p.Asp1103=) c.3076G= (p.Asp1026=) c.2977G= (p.Asp993=) c.2158G= (p.Asp720=) n.3709G= | |
13 | g.51941147C>G | CA388026395 | ATP7B | c.*1140G>C (n.*1140G>C) c.*2234G>C (n.*2234G>C) c.2869G>C (p.Asp957His) c.3490G>C (p.Asp1164His) c.3157G>C (p.Asp1053His) c.3238G>C (p.Asp1080His) c.3256G>C (p.Asp1086His) n.3629G>C n.3853G>C c.2425G>C (p.Asp809His) c.2200G>C (p.Asp734His) c.3295G>C (p.Asp1099His) c.1268G>C c.*591G>C (n.*591G>C) n.4234G>C n.2835G>C c.3346G>C (p.Asp1116His) c.3394G>C (p.Asp1132His) c.3454G>C (p.Asp1152His) c.3004G>C (p.Asp1002His) c.1306G>C (p.Asp436His) c.1123G>C (p.Asp375His) c.3355G>C (p.Asp1119His) c.3307G>C (p.Asp1103His) c.3076G>C (p.Asp1026His) c.2977G>C (p.Asp993His) c.2158G>C (p.Asp720His) n.3709G>C | gnomAD v4 |
13 | g.51941147C>T | CA250077239 | ATP7B | c.*1140G>A (n.*1140G>A) c.*2234G>A (n.*2234G>A) c.2869G>A (p.Asp957Asn) c.3490G>A (p.Asp1164Asn) c.3157G>A (p.Asp1053Asn) c.3238G>A (p.Asp1080Asn) c.3256G>A (p.Asp1086Asn) n.3629G>A n.3853G>A c.2425G>A (p.Asp809Asn) c.2200G>A (p.Asp734Asn) c.3295G>A (p.Asp1099Asn) c.1268G>A c.*591G>A (n.*591G>A) n.4234G>A n.2835G>A c.3346G>A (p.Asp1116Asn) c.3394G>A (p.Asp1132Asn) c.3454G>A (p.Asp1152Asn) c.3004G>A (p.Asp1002Asn) c.1306G>A (p.Asp436Asn) c.1123G>A (p.Asp375Asn) c.3355G>A (p.Asp1119Asn) c.3307G>A (p.Asp1103Asn) c.3076G>A (p.Asp1026Asn) c.2977G>A (p.Asp993Asn) c.2158G>A (p.Asp720Asn) n.3709G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51941148G>A | CA260140 | ATP7B | c.*1139C>T (n.*1139C>T) c.*2233C>T (n.*2233C>T) c.2868C>T (p.Ser956=) c.3489C>T (p.Ser1163=) c.3156C>T (p.Ser1052=) c.3237C>T (p.Ser1079=) c.3255C>T (p.Ser1085=) n.3628C>T n.3852C>T c.2424C>T (p.Ser808=) c.2199C>T (p.Ser733=) c.3294C>T (p.Ser1098=) c.1267C>T c.*590C>T (n.*590C>T) n.4233C>T n.2834C>T c.3345C>T (p.Ser1115=) c.3393C>T (p.Ser1131=) c.3453C>T (p.Ser1151=) c.3003C>T (p.Ser1001=) c.1305C>T (p.Ser435=) c.1122C>T (p.Ser374=) c.3354C>T (p.Ser1118=) c.3306C>T (p.Ser1102=) c.3075C>T (p.Ser1025=) c.2976C>T (p.Ser992=) c.2157C>T (p.Ser719=) n.3708C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.51941148G>C | CA388026398 | ATP7B | c.*1139C>G (n.*1139C>G) c.*2233C>G (n.*2233C>G) c.2868C>G (p.Ser956Arg) c.3489C>G (p.Ser1163Arg) c.3156C>G (p.Ser1052Arg) c.3237C>G (p.Ser1079Arg) c.3255C>G (p.Ser1085Arg) n.3628C>G n.3852C>G c.2424C>G (p.Ser808Arg) c.2199C>G (p.Ser733Arg) c.3294C>G (p.Ser1098Arg) c.1267C>G c.*590C>G (n.*590C>G) n.4233C>G n.2834C>G c.3345C>G (p.Ser1115Arg) c.3393C>G (p.Ser1131Arg) c.3453C>G (p.Ser1151Arg) c.3003C>G (p.Ser1001Arg) c.1305C>G (p.Ser435Arg) c.1122C>G (p.Ser374Arg) c.3354C>G (p.Ser1118Arg) c.3306C>G (p.Ser1102Arg) c.3075C>G (p.Ser1025Arg) c.2976C>G (p.Ser992Arg) c.2157C>G (p.Ser719Arg) n.3708C>G | |
13 | g.51941148G= | CA2091559468 | ATP7B | c.*1139C= (n.*1139C=) c.*2233C= (n.*2233C=) c.2868C= (p.Ser956=) c.3489C= (p.Ser1163=) c.3156C= (p.Ser1052=) c.3237C= (p.Ser1079=) c.3255C= (p.Ser1085=) n.3628C= n.3852C= c.2424C= (p.Ser808=) c.2199C= (p.Ser733=) c.3294C= (p.Ser1098=) c.1267C= c.*590C= (n.*590C=) n.4233C= n.2834C= c.3345C= (p.Ser1115=) c.3393C= (p.Ser1131=) c.3453C= (p.Ser1151=) c.3003C= (p.Ser1001=) c.1305C= (p.Ser435=) c.1122C= (p.Ser374=) c.3354C= (p.Ser1118=) c.3306C= (p.Ser1102=) c.3075C= (p.Ser1025=) c.2976C= (p.Ser992=) c.2157C= (p.Ser719=) n.3708C= | |
13 | g.51941148G>T | CA388026399 | ATP7B | c.*1139C>A (n.*1139C>A) c.*2233C>A (n.*2233C>A) c.2868C>A (p.Ser956Arg) c.3489C>A (p.Ser1163Arg) c.3156C>A (p.Ser1052Arg) c.3237C>A (p.Ser1079Arg) c.3255C>A (p.Ser1085Arg) n.3628C>A n.3852C>A c.2424C>A (p.Ser808Arg) c.2199C>A (p.Ser733Arg) c.3294C>A (p.Ser1098Arg) c.1267C>A c.*590C>A (n.*590C>A) n.4233C>A n.2834C>A c.3345C>A (p.Ser1115Arg) c.3393C>A (p.Ser1131Arg) c.3453C>A (p.Ser1151Arg) c.3003C>A (p.Ser1001Arg) c.1305C>A (p.Ser435Arg) c.1122C>A (p.Ser374Arg) c.3354C>A (p.Ser1118Arg) c.3306C>A (p.Ser1102Arg) c.3075C>A (p.Ser1025Arg) c.2976C>A (p.Ser992Arg) c.2157C>A (p.Ser719Arg) n.3708C>A | |
13 | g.51941149C>A | CA388026401 | ATP7B | c.*1138G>T (n.*1138G>T) c.*2232G>T (n.*2232G>T) c.2867G>T (p.Ser956Ile) c.3488G>T (p.Ser1163Ile) c.3155G>T (p.Ser1052Ile) c.3236G>T (p.Ser1079Ile) c.3254G>T (p.Ser1085Ile) n.3627G>T n.3851G>T c.2423G>T (p.Ser808Ile) c.2198G>T (p.Ser733Ile) c.3293G>T (p.Ser1098Ile) c.1266G>T c.*589G>T (n.*589G>T) n.4232G>T n.2833G>T c.3344G>T (p.Ser1115Ile) c.3392G>T (p.Ser1131Ile) c.3452G>T (p.Ser1151Ile) c.3002G>T (p.Ser1001Ile) c.1304G>T (p.Ser435Ile) c.1121G>T (p.Ser374Ile) c.3353G>T (p.Ser1118Ile) c.3305G>T (p.Ser1102Ile) c.3074G>T (p.Ser1025Ile) c.2975G>T (p.Ser992Ile) c.2156G>T (p.Ser719Ile) n.3707G>T | |
13 | g.51941149C>G | CA388026403 | ATP7B | c.*1138G>C (n.*1138G>C) c.*2232G>C (n.*2232G>C) c.2867G>C (p.Ser956Thr) c.3488G>C (p.Ser1163Thr) c.3155G>C (p.Ser1052Thr) c.3236G>C (p.Ser1079Thr) c.3254G>C (p.Ser1085Thr) n.3627G>C n.3851G>C c.2423G>C (p.Ser808Thr) c.2198G>C (p.Ser733Thr) c.3293G>C (p.Ser1098Thr) c.1266G>C c.*589G>C (n.*589G>C) n.4232G>C n.2833G>C c.3344G>C (p.Ser1115Thr) c.3392G>C (p.Ser1131Thr) c.3452G>C (p.Ser1151Thr) c.3002G>C (p.Ser1001Thr) c.1304G>C (p.Ser435Thr) c.1121G>C (p.Ser374Thr) c.3353G>C (p.Ser1118Thr) c.3305G>C (p.Ser1102Thr) c.3074G>C (p.Ser1025Thr) c.2975G>C (p.Ser992Thr) c.2156G>C (p.Ser719Thr) n.3707G>C | |
13 | g.51941149C>T | CA388026406 | ATP7B | c.*1138G>A (n.*1138G>A) c.*2232G>A (n.*2232G>A) c.2867G>A (p.Ser956Asn) c.3488G>A (p.Ser1163Asn) c.3155G>A (p.Ser1052Asn) c.3236G>A (p.Ser1079Asn) c.3254G>A (p.Ser1085Asn) n.3627G>A n.3851G>A c.2423G>A (p.Ser808Asn) c.2198G>A (p.Ser733Asn) c.3293G>A (p.Ser1098Asn) c.1266G>A c.*589G>A (n.*589G>A) n.4232G>A n.2833G>A c.3344G>A (p.Ser1115Asn) c.3392G>A (p.Ser1131Asn) c.3452G>A (p.Ser1151Asn) c.3002G>A (p.Ser1001Asn) c.1304G>A (p.Ser435Asn) c.1121G>A (p.Ser374Asn) c.3353G>A (p.Ser1118Asn) c.3305G>A (p.Ser1102Asn) c.3074G>A (p.Ser1025Asn) c.2975G>A (p.Ser992Asn) c.2156G>A (p.Ser719Asn) n.3707G>A | |
13 | g.51941150T>A | CA388026408 | ATP7B | c.*1137A>T (n.*1137A>T) c.*2231A>T (n.*2231A>T) c.2866A>T (p.Ser956Cys) c.3487A>T (p.Ser1163Cys) c.3154A>T (p.Ser1052Cys) c.3235A>T (p.Ser1079Cys) c.3253A>T (p.Ser1085Cys) n.3626A>T n.3850A>T c.2422A>T (p.Ser808Cys) c.2197A>T (p.Ser733Cys) c.3292A>T (p.Ser1098Cys) c.1265A>T c.*588A>T (n.*588A>T) n.4231A>T n.2832A>T c.3343A>T (p.Ser1115Cys) c.3391A>T (p.Ser1131Cys) c.3451A>T (p.Ser1151Cys) c.3001A>T (p.Ser1001Cys) c.1303A>T (p.Ser435Cys) c.1120A>T (p.Ser374Cys) c.3352A>T (p.Ser1118Cys) c.3304A>T (p.Ser1102Cys) c.3073A>T (p.Ser1025Cys) c.2974A>T (p.Ser992Cys) c.2155A>T (p.Ser719Cys) n.3706A>T | |
13 | g.51941150T>C | CA388026409 | ATP7B | c.*1137A>G (n.*1137A>G) c.*2231A>G (n.*2231A>G) c.2866A>G (p.Ser956Gly) c.3487A>G (p.Ser1163Gly) c.3154A>G (p.Ser1052Gly) c.3235A>G (p.Ser1079Gly) c.3253A>G (p.Ser1085Gly) n.3626A>G n.3850A>G c.2422A>G (p.Ser808Gly) c.2197A>G (p.Ser733Gly) c.3292A>G (p.Ser1098Gly) c.1265A>G c.*588A>G (n.*588A>G) n.4231A>G n.2832A>G c.3343A>G (p.Ser1115Gly) c.3391A>G (p.Ser1131Gly) c.3451A>G (p.Ser1151Gly) c.3001A>G (p.Ser1001Gly) c.1303A>G (p.Ser435Gly) c.1120A>G (p.Ser374Gly) c.3352A>G (p.Ser1118Gly) c.3304A>G (p.Ser1102Gly) c.3073A>G (p.Ser1025Gly) c.2974A>G (p.Ser992Gly) c.2155A>G (p.Ser719Gly) n.3706A>G | |
13 | g.51941150T>G | CA388026412 | ATP7B | c.*1137A>C (n.*1137A>C) c.*2231A>C (n.*2231A>C) c.2866A>C (p.Ser956Arg) c.3487A>C (p.Ser1163Arg) c.3154A>C (p.Ser1052Arg) c.3235A>C (p.Ser1079Arg) c.3253A>C (p.Ser1085Arg) n.3626A>C n.3850A>C c.2422A>C (p.Ser808Arg) c.2197A>C (p.Ser733Arg) c.3292A>C (p.Ser1098Arg) c.1265A>C c.*588A>C (n.*588A>C) n.4231A>C n.2832A>C c.3343A>C (p.Ser1115Arg) c.3391A>C (p.Ser1131Arg) c.3451A>C (p.Ser1151Arg) c.3001A>C (p.Ser1001Arg) c.1303A>C (p.Ser435Arg) c.1120A>C (p.Ser374Arg) c.3352A>C (p.Ser1118Arg) c.3304A>C (p.Ser1102Arg) c.3073A>C (p.Ser1025Arg) c.2974A>C (p.Ser992Arg) c.2155A>C (p.Ser719Arg) n.3706A>C | |
13 | g.51941151A= | CA2091559470 | ATP7B | c.*1136T= (n.*1136T=) c.*2230T= (n.*2230T=) c.2865T= (p.Ser955=) c.3486T= (p.Ser1162=) c.3153T= (p.Ser1051=) c.3234T= (p.Ser1078=) c.3252T= (p.Ser1084=) n.3625T= n.3849T= c.2421T= (p.Ser807=) c.2196T= (p.Ser732=) c.3291T= (p.Ser1097=) c.1264T= c.*587T= (n.*587T=) n.4230T= n.2831T= c.3342T= (p.Ser1114=) c.3390T= (p.Ser1130=) c.3450T= (p.Ser1150=) c.3000T= (p.Ser1000=) c.1302T= (p.Ser434=) c.1119T= (p.Ser373=) c.3351T= (p.Ser1117=) c.3303T= (p.Ser1101=) c.3072T= (p.Ser1024=) c.2973T= (p.Ser991=) c.2154T= (p.Ser718=) n.3705T= | |
13 | g.51941151A>C | CA483893977 | ATP7B | c.*1136T>G (n.*1136T>G) c.*2230T>G (n.*2230T>G) c.2865T>G (p.Ser955=) c.3486T>G (p.Ser1162=) c.3153T>G (p.Ser1051=) c.3234T>G (p.Ser1078=) c.3252T>G (p.Ser1084=) n.3625T>G n.3849T>G c.2421T>G (p.Ser807=) c.2196T>G (p.Ser732=) c.3291T>G (p.Ser1097=) c.1264T>G c.*587T>G (n.*587T>G) n.4230T>G n.2831T>G c.3342T>G (p.Ser1114=) c.3390T>G (p.Ser1130=) c.3450T>G (p.Ser1150=) c.3000T>G (p.Ser1000=) c.1302T>G (p.Ser434=) c.1119T>G (p.Ser373=) c.3351T>G (p.Ser1117=) c.3303T>G (p.Ser1101=) c.3072T>G (p.Ser1024=) c.2973T>G (p.Ser991=) c.2154T>G (p.Ser718=) n.3705T>G | dbSNP |
13 | g.51941151A>G | CA483893978 | ATP7B | c.*1136T>C (n.*1136T>C) c.*2230T>C (n.*2230T>C) c.2865T>C (p.Ser955=) c.3486T>C (p.Ser1162=) c.3153T>C (p.Ser1051=) c.3234T>C (p.Ser1078=) c.3252T>C (p.Ser1084=) n.3625T>C n.3849T>C c.2421T>C (p.Ser807=) c.2196T>C (p.Ser732=) c.3291T>C (p.Ser1097=) c.1264T>C c.*587T>C (n.*587T>C) n.4230T>C n.2831T>C c.3342T>C (p.Ser1114=) c.3390T>C (p.Ser1130=) c.3450T>C (p.Ser1150=) c.3000T>C (p.Ser1000=) c.1302T>C (p.Ser434=) c.1119T>C (p.Ser373=) c.3351T>C (p.Ser1117=) c.3303T>C (p.Ser1101=) c.3072T>C (p.Ser1024=) c.2973T>C (p.Ser991=) c.2154T>C (p.Ser718=) n.3705T>C | |
13 | g.51941151A>T | CA483893980 | ATP7B | c.*1136T>A (n.*1136T>A) c.*2230T>A (n.*2230T>A) c.2865T>A (p.Ser955=) c.3486T>A (p.Ser1162=) c.3153T>A (p.Ser1051=) c.3234T>A (p.Ser1078=) c.3252T>A (p.Ser1084=) n.3625T>A n.3849T>A c.2421T>A (p.Ser807=) c.2196T>A (p.Ser732=) c.3291T>A (p.Ser1097=) c.1264T>A c.*587T>A (n.*587T>A) n.4230T>A n.2831T>A c.3342T>A (p.Ser1114=) c.3390T>A (p.Ser1130=) c.3450T>A (p.Ser1150=) c.3000T>A (p.Ser1000=) c.1302T>A (p.Ser434=) c.1119T>A (p.Ser373=) c.3351T>A (p.Ser1117=) c.3303T>A (p.Ser1101=) c.3072T>A (p.Ser1024=) c.2973T>A (p.Ser991=) c.2154T>A (p.Ser718=) n.3705T>A | |
13 | g.51941152G>A | CA388026415 | ATP7B | c.*1135C>T (n.*1135C>T) c.*2229C>T (n.*2229C>T) c.2864C>T (p.Ser955Phe) c.3485C>T (p.Ser1162Phe) c.3152C>T (p.Ser1051Phe) c.3233C>T (p.Ser1078Phe) c.3251C>T (p.Ser1084Phe) n.3624C>T n.3848C>T c.2420C>T (p.Ser807Phe) c.2195C>T (p.Ser732Phe) c.3290C>T (p.Ser1097Phe) c.1263C>T c.*586C>T (n.*586C>T) n.4229C>T n.2830C>T c.3341C>T (p.Ser1114Phe) c.3389C>T (p.Ser1130Phe) c.3449C>T (p.Ser1150Phe) c.2999C>T (p.Ser1000Phe) c.1301C>T (p.Ser434Phe) c.1118C>T (p.Ser373Phe) c.3350C>T (p.Ser1117Phe) c.3302C>T (p.Ser1101Phe) c.3071C>T (p.Ser1024Phe) c.2972C>T (p.Ser991Phe) c.2153C>T (p.Ser718Phe) n.3704C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51941152G>C | CA388026413 | ATP7B | c.*1135C>G (n.*1135C>G) c.*2229C>G (n.*2229C>G) c.2864C>G (p.Ser955Cys) c.3485C>G (p.Ser1162Cys) c.3152C>G (p.Ser1051Cys) c.3233C>G (p.Ser1078Cys) c.3251C>G (p.Ser1084Cys) n.3624C>G n.3848C>G c.2420C>G (p.Ser807Cys) c.2195C>G (p.Ser732Cys) c.3290C>G (p.Ser1097Cys) c.1263C>G c.*586C>G (n.*586C>G) n.4229C>G n.2830C>G c.3341C>G (p.Ser1114Cys) c.3389C>G (p.Ser1130Cys) c.3449C>G (p.Ser1150Cys) c.2999C>G (p.Ser1000Cys) c.1301C>G (p.Ser434Cys) c.1118C>G (p.Ser373Cys) c.3350C>G (p.Ser1117Cys) c.3302C>G (p.Ser1101Cys) c.3071C>G (p.Ser1024Cys) c.2972C>G (p.Ser991Cys) c.2153C>G (p.Ser718Cys) n.3704C>G | |
13 | g.51941152G= | CA2091559473 | ATP7B | c.*1135C= (n.*1135C=) c.*2229C= (n.*2229C=) c.2864C= (p.Ser955=) c.3485C= (p.Ser1162=) c.3152C= (p.Ser1051=) c.3233C= (p.Ser1078=) c.3251C= (p.Ser1084=) n.3624C= n.3848C= c.2420C= (p.Ser807=) c.2195C= (p.Ser732=) c.3290C= (p.Ser1097=) c.1263C= c.*586C= (n.*586C=) n.4229C= n.2830C= c.3341C= (p.Ser1114=) c.3389C= (p.Ser1130=) c.3449C= (p.Ser1150=) c.2999C= (p.Ser1000=) c.1301C= (p.Ser434=) c.1118C= (p.Ser373=) c.3350C= (p.Ser1117=) c.3302C= (p.Ser1101=) c.3071C= (p.Ser1024=) c.2972C= (p.Ser991=) c.2153C= (p.Ser718=) n.3704C= | |
13 | g.51941152G>T | CA388026414 | ATP7B | c.*1135C>A (n.*1135C>A) c.*2229C>A (n.*2229C>A) c.2864C>A (p.Ser955Tyr) c.3485C>A (p.Ser1162Tyr) c.3152C>A (p.Ser1051Tyr) c.3233C>A (p.Ser1078Tyr) c.3251C>A (p.Ser1084Tyr) n.3624C>A n.3848C>A c.2420C>A (p.Ser807Tyr) c.2195C>A (p.Ser732Tyr) c.3290C>A (p.Ser1097Tyr) c.1263C>A c.*586C>A (n.*586C>A) n.4229C>A n.2830C>A c.3341C>A (p.Ser1114Tyr) c.3389C>A (p.Ser1130Tyr) c.3449C>A (p.Ser1150Tyr) c.2999C>A (p.Ser1000Tyr) c.1301C>A (p.Ser434Tyr) c.1118C>A (p.Ser373Tyr) c.3350C>A (p.Ser1117Tyr) c.3302C>A (p.Ser1101Tyr) c.3071C>A (p.Ser1024Tyr) c.2972C>A (p.Ser991Tyr) c.2153C>A (p.Ser718Tyr) n.3704C>A | |
13 | g.51941153A>C | CA388026419 | ATP7B | c.*1134T>G (n.*1134T>G) c.*2228T>G (n.*2228T>G) c.2863T>G (p.Ser955Ala) c.3484T>G (p.Ser1162Ala) c.3151T>G (p.Ser1051Ala) c.3232T>G (p.Ser1078Ala) c.3250T>G (p.Ser1084Ala) n.3623T>G n.3847T>G c.2419T>G (p.Ser807Ala) c.2194T>G (p.Ser732Ala) c.3289T>G (p.Ser1097Ala) c.1262T>G c.*585T>G (n.*585T>G) n.4228T>G n.2829T>G c.3340T>G (p.Ser1114Ala) c.3388T>G (p.Ser1130Ala) c.3448T>G (p.Ser1150Ala) c.2998T>G (p.Ser1000Ala) c.1300T>G (p.Ser434Ala) c.1117T>G (p.Ser373Ala) c.3349T>G (p.Ser1117Ala) c.3301T>G (p.Ser1101Ala) c.3070T>G (p.Ser1024Ala) c.2971T>G (p.Ser991Ala) c.2152T>G (p.Ser718Ala) n.3703T>G | |
13 | g.51941153A>G | CA388026421 | ATP7B | c.*1134T>C (n.*1134T>C) c.*2228T>C (n.*2228T>C) c.2863T>C (p.Ser955Pro) c.3484T>C (p.Ser1162Pro) c.3151T>C (p.Ser1051Pro) c.3232T>C (p.Ser1078Pro) c.3250T>C (p.Ser1084Pro) n.3623T>C n.3847T>C c.2419T>C (p.Ser807Pro) c.2194T>C (p.Ser732Pro) c.3289T>C (p.Ser1097Pro) c.1262T>C c.*585T>C (n.*585T>C) n.4228T>C n.2829T>C c.3340T>C (p.Ser1114Pro) c.3388T>C (p.Ser1130Pro) c.3448T>C (p.Ser1150Pro) c.2998T>C (p.Ser1000Pro) c.1300T>C (p.Ser434Pro) c.1117T>C (p.Ser373Pro) c.3349T>C (p.Ser1117Pro) c.3301T>C (p.Ser1101Pro) c.3070T>C (p.Ser1024Pro) c.2971T>C (p.Ser991Pro) c.2152T>C (p.Ser718Pro) n.3703T>C | ClinVar dbSNP gnomAD v4 |
13 | g.51941153A>T | CA388026423 | ATP7B | c.*1134T>A (n.*1134T>A) c.*2228T>A (n.*2228T>A) c.2863T>A (p.Ser955Thr) c.3484T>A (p.Ser1162Thr) c.3151T>A (p.Ser1051Thr) c.3232T>A (p.Ser1078Thr) c.3250T>A (p.Ser1084Thr) n.3623T>A n.3847T>A c.2419T>A (p.Ser807Thr) c.2194T>A (p.Ser732Thr) c.3289T>A (p.Ser1097Thr) c.1262T>A c.*585T>A (n.*585T>A) n.4228T>A n.2829T>A c.3340T>A (p.Ser1114Thr) c.3388T>A (p.Ser1130Thr) c.3448T>A (p.Ser1150Thr) c.2998T>A (p.Ser1000Thr) c.1300T>A (p.Ser434Thr) c.1117T>A (p.Ser373Thr) c.3349T>A (p.Ser1117Thr) c.3301T>A (p.Ser1101Thr) c.3070T>A (p.Ser1024Thr) c.2971T>A (p.Ser991Thr) c.2152T>A (p.Ser718Thr) n.3703T>A | |
13 | g.51941154A>C | CA388026425 | ATP7B | c.*1133T>G (n.*1133T>G) c.*2227T>G (n.*2227T>G) c.2862T>G (p.Ile954Met) c.3483T>G (p.Ile1161Met) c.3150T>G (p.Ile1050Met) c.3231T>G (p.Ile1077Met) c.3249T>G (p.Ile1083Met) n.3622T>G n.3846T>G c.2418T>G (p.Ile806Met) c.2193T>G (p.Ile731Met) c.3288T>G (p.Ile1096Met) c.1261T>G c.*584T>G (n.*584T>G) n.4227T>G n.2828T>G c.3339T>G (p.Ile1113Met) c.3387T>G (p.Ile1129Met) c.3447T>G (p.Ile1149Met) c.2997T>G (p.Ile999Met) c.1299T>G (p.Ile433Met) c.1116T>G (p.Ile372Met) c.3348T>G (p.Ile1116Met) c.3300T>G (p.Ile1100Met) c.3069T>G (p.Ile1023Met) c.2970T>G (p.Ile990Met) c.2151T>G (p.Ile717Met) n.3702T>G | |
13 | g.51941154A>G | CA483893988 | ATP7B | c.*1133T>C (n.*1133T>C) c.*2227T>C (n.*2227T>C) c.2862T>C (p.Ile954=) c.3483T>C (p.Ile1161=) c.3150T>C (p.Ile1050=) c.3231T>C (p.Ile1077=) c.3249T>C (p.Ile1083=) n.3622T>C n.3846T>C c.2418T>C (p.Ile806=) c.2193T>C (p.Ile731=) c.3288T>C (p.Ile1096=) c.1261T>C c.*584T>C (n.*584T>C) n.4227T>C n.2828T>C c.3339T>C (p.Ile1113=) c.3387T>C (p.Ile1129=) c.3447T>C (p.Ile1149=) c.2997T>C (p.Ile999=) c.1299T>C (p.Ile433=) c.1116T>C (p.Ile372=) c.3348T>C (p.Ile1116=) c.3300T>C (p.Ile1100=) c.3069T>C (p.Ile1023=) c.2970T>C (p.Ile990=) c.2151T>C (p.Ile717=) n.3702T>C | |
13 | g.51941154A>T | CA483893990 | ATP7B | c.*1133T>A (n.*1133T>A) c.*2227T>A (n.*2227T>A) c.2862T>A (p.Ile954=) c.3483T>A (p.Ile1161=) c.3150T>A (p.Ile1050=) c.3231T>A (p.Ile1077=) c.3249T>A (p.Ile1083=) n.3622T>A n.3846T>A c.2418T>A (p.Ile806=) c.2193T>A (p.Ile731=) c.3288T>A (p.Ile1096=) c.1261T>A c.*584T>A (n.*584T>A) n.4227T>A n.2828T>A c.3339T>A (p.Ile1113=) c.3387T>A (p.Ile1129=) c.3447T>A (p.Ile1149=) c.2997T>A (p.Ile999=) c.1299T>A (p.Ile433=) c.1116T>A (p.Ile372=) c.3348T>A (p.Ile1116=) c.3300T>A (p.Ile1100=) c.3069T>A (p.Ile1023=) c.2970T>A (p.Ile990=) c.2151T>A (p.Ile717=) n.3702T>A | |
13 | g.51941154_51941165delinsAATGGTTAAACC | CA2091559475 | ATP7B | c.*1122_*1133delinsGGTTTAACCATT (n.*1122_*1133delinsGGTTTAACCATT) c.*2216_*2227delinsGGTTTAACCATT (n.*2216_*2227delinsGGTTTAACCATT) c.2851_2862delinsGGTTTAACCATT (p.Gly951=) c.3472_3483delinsGGTTTAACCATT (p.Gly1158=) c.3139_3150delinsGGTTTAACCATT (p.Gly1047=) c.3220_3231delinsGGTTTAACCATT (p.Gly1074=) c.3238_3249delinsGGTTTAACCATT (p.Gly1080=) n.3611_3622delinsGGTTTAACCATT n.3835_3846delinsGGTTTAACCATT c.2407_2418delinsGGTTTAACCATT (p.Gly803=) c.2182_2193delinsGGTTTAACCATT (p.Gly728=) c.3277_3288delinsGGTTTAACCATT (p.Gly1093=) c.1250_1261delinsGGTTTAACCATT c.*573_*584delinsGGTTTAACCATT (n.*573_*584delinsGGTTTAACCATT) n.4216_4227delinsGGTTTAACCATT n.2817_2828delinsGGTTTAACCATT c.3328_3339delinsGGTTTAACCATT (p.Gly1110=) c.3376_3387delinsGGTTTAACCATT (p.Gly1126=) c.3436_3447delinsGGTTTAACCATT (p.Gly1146=) c.2986_2997delinsGGTTTAACCATT (p.Gly996=) c.1288_1299delinsGGTTTAACCATT (p.Gly430=) c.1105_1116delinsGGTTTAACCATT (p.Gly369=) c.3337_3348delinsGGTTTAACCATT (p.Gly1113=) c.3289_3300delinsGGTTTAACCATT (p.Gly1097=) c.3058_3069delinsGGTTTAACCATT (p.Gly1020=) c.2959_2970delinsGGTTTAACCATT (p.Gly987=) c.2140_2151delinsGGTTTAACCATT (p.Gly714=) n.3691_3702delinsGGTTTAACCATT | |
13 | g.51941155A>C | CA388026429 | ATP7B | c.*1132T>G (n.*1132T>G) c.*2226T>G (n.*2226T>G) c.2861T>G (p.Ile954Ser) c.3482T>G (p.Ile1161Ser) c.3149T>G (p.Ile1050Ser) c.3230T>G (p.Ile1077Ser) c.3248T>G (p.Ile1083Ser) n.3621T>G n.3845T>G c.2417T>G (p.Ile806Ser) c.2192T>G (p.Ile731Ser) c.3287T>G (p.Ile1096Ser) c.1260T>G c.*583T>G (n.*583T>G) n.4226T>G n.2827T>G c.3338T>G (p.Ile1113Ser) c.3386T>G (p.Ile1129Ser) c.3446T>G (p.Ile1149Ser) c.2996T>G (p.Ile999Ser) c.1298T>G (p.Ile433Ser) c.1115T>G (p.Ile372Ser) c.3347T>G (p.Ile1116Ser) c.3299T>G (p.Ile1100Ser) c.3068T>G (p.Ile1023Ser) c.2969T>G (p.Ile990Ser) c.2150T>G (p.Ile717Ser) n.3701T>G | |
13 | g.51941155A>G | CA388026431 | ATP7B | c.*1132T>C (n.*1132T>C) c.*2226T>C (n.*2226T>C) c.2861T>C (p.Ile954Thr) c.3482T>C (p.Ile1161Thr) c.3149T>C (p.Ile1050Thr) c.3230T>C (p.Ile1077Thr) c.3248T>C (p.Ile1083Thr) n.3621T>C n.3845T>C c.2417T>C (p.Ile806Thr) c.2192T>C (p.Ile731Thr) c.3287T>C (p.Ile1096Thr) c.1260T>C c.*583T>C (n.*583T>C) n.4226T>C n.2827T>C c.3338T>C (p.Ile1113Thr) c.3386T>C (p.Ile1129Thr) c.3446T>C (p.Ile1149Thr) c.2996T>C (p.Ile999Thr) c.1298T>C (p.Ile433Thr) c.1115T>C (p.Ile372Thr) c.3347T>C (p.Ile1116Thr) c.3299T>C (p.Ile1100Thr) c.3068T>C (p.Ile1023Thr) c.2969T>C (p.Ile990Thr) c.2150T>C (p.Ile717Thr) n.3701T>C | |
13 | g.51941155A>T | CA388026434 | ATP7B | c.*1132T>A (n.*1132T>A) c.*2226T>A (n.*2226T>A) c.2861T>A (p.Ile954Asn) c.3482T>A (p.Ile1161Asn) c.3149T>A (p.Ile1050Asn) c.3230T>A (p.Ile1077Asn) c.3248T>A (p.Ile1083Asn) n.3621T>A n.3845T>A c.2417T>A (p.Ile806Asn) c.2192T>A (p.Ile731Asn) c.3287T>A (p.Ile1096Asn) c.1260T>A c.*583T>A (n.*583T>A) n.4226T>A n.2827T>A c.3338T>A (p.Ile1113Asn) c.3386T>A (p.Ile1129Asn) c.3446T>A (p.Ile1149Asn) c.2996T>A (p.Ile999Asn) c.1298T>A (p.Ile433Asn) c.1115T>A (p.Ile372Asn) c.3347T>A (p.Ile1116Asn) c.3299T>A (p.Ile1100Asn) c.3068T>A (p.Ile1023Asn) c.2969T>A (p.Ile990Asn) c.2150T>A (p.Ile717Asn) n.3701T>A | |
13 | g.51941155_51941165del | CA919272619 | ATP7B | c.*1122_*1132del (n.*1122_*1132del) c.*2216_*2226del (n.*2216_*2226del) c.2851_2861del (p.Gly951PhefsTer2) c.3472_3482del (p.Gly1158PhefsTer2) c.3139_3149del (p.Gly1047PhefsTer2) c.3220_3230del (p.Gly1074PhefsTer2) c.3238_3248del (p.Gly1080PhefsTer2) n.3611_3621del n.3835_3845del c.2407_2417del (p.Gly803PhefsTer2) c.2182_2192del (p.Gly728PhefsTer2) c.3277_3287del (p.Gly1093PhefsTer2) c.1250_1260del c.*573_*583del (n.*573_*583del) n.4216_4226del n.2817_2827del c.3328_3338del (p.Gly1110PhefsTer2) c.3376_3386del (p.Gly1126PhefsTer2) c.3436_3446del (p.Gly1146PhefsTer2) c.2986_2996del (p.Gly996PhefsTer2) c.1288_1298del (p.Gly430PhefsTer2) c.1105_1115del (p.Gly369PhefsTer2) c.3337_3347del (p.Gly1113PhefsTer2) c.3289_3299del (p.Gly1097PhefsTer2) c.3058_3068del (p.Gly1020PhefsTer2) c.2959_2969del (p.Gly987PhefsTer2) c.2140_2150del (p.Gly714PhefsTer2) n.3691_3701del | ClinVar dbSNP gnomAD v4 |
13 | g.51941156T>A | CA388026438 | ATP7B | c.*1131A>T (n.*1131A>T) c.*2225A>T (n.*2225A>T) c.2860A>T (p.Ile954Phe) c.3481A>T (p.Ile1161Phe) c.3148A>T (p.Ile1050Phe) c.3229A>T (p.Ile1077Phe) c.3247A>T (p.Ile1083Phe) n.3620A>T n.3844A>T c.2416A>T (p.Ile806Phe) c.2191A>T (p.Ile731Phe) c.3286A>T (p.Ile1096Phe) c.1259A>T c.*582A>T (n.*582A>T) n.4225A>T n.2826A>T c.3337A>T (p.Ile1113Phe) c.3385A>T (p.Ile1129Phe) c.3445A>T (p.Ile1149Phe) c.2995A>T (p.Ile999Phe) c.1297A>T (p.Ile433Phe) c.1114A>T (p.Ile372Phe) c.3346A>T (p.Ile1116Phe) c.3298A>T (p.Ile1100Phe) c.3067A>T (p.Ile1023Phe) c.2968A>T (p.Ile990Phe) c.2149A>T (p.Ile717Phe) n.3700A>T | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51941156T>C | CA388026440 | ATP7B | c.*1131A>G (n.*1131A>G) c.*2225A>G (n.*2225A>G) c.2860A>G (p.Ile954Val) c.3481A>G (p.Ile1161Val) c.3148A>G (p.Ile1050Val) c.3229A>G (p.Ile1077Val) c.3247A>G (p.Ile1083Val) n.3620A>G n.3844A>G c.2416A>G (p.Ile806Val) c.2191A>G (p.Ile731Val) c.3286A>G (p.Ile1096Val) c.1259A>G c.*582A>G (n.*582A>G) n.4225A>G n.2826A>G c.3337A>G (p.Ile1113Val) c.3385A>G (p.Ile1129Val) c.3445A>G (p.Ile1149Val) c.2995A>G (p.Ile999Val) c.1297A>G (p.Ile433Val) c.1114A>G (p.Ile372Val) c.3346A>G (p.Ile1116Val) c.3298A>G (p.Ile1100Val) c.3067A>G (p.Ile1023Val) c.2968A>G (p.Ile990Val) c.2149A>G (p.Ile717Val) n.3700A>G | gnomAD v4 COSMIC |
13 | g.51941156T>G | CA388026443 | ATP7B | c.*1131A>C (n.*1131A>C) c.*2225A>C (n.*2225A>C) c.2860A>C (p.Ile954Leu) c.3481A>C (p.Ile1161Leu) c.3148A>C (p.Ile1050Leu) c.3229A>C (p.Ile1077Leu) c.3247A>C (p.Ile1083Leu) n.3620A>C n.3844A>C c.2416A>C (p.Ile806Leu) c.2191A>C (p.Ile731Leu) c.3286A>C (p.Ile1096Leu) c.1259A>C c.*582A>C (n.*582A>C) n.4225A>C n.2826A>C c.3337A>C (p.Ile1113Leu) c.3385A>C (p.Ile1129Leu) c.3445A>C (p.Ile1149Leu) c.2995A>C (p.Ile999Leu) c.1297A>C (p.Ile433Leu) c.1114A>C (p.Ile372Leu) c.3346A>C (p.Ile1116Leu) c.3298A>C (p.Ile1100Leu) c.3067A>C (p.Ile1023Leu) c.2968A>C (p.Ile990Leu) c.2149A>C (p.Ile717Leu) n.3700A>C | |
13 | g.51941156T= | CA2091559480 | ATP7B | c.*1131A= (n.*1131A=) c.*2225A= (n.*2225A=) c.2860A= (p.Ile954=) c.3481A= (p.Ile1161=) c.3148A= (p.Ile1050=) c.3229A= (p.Ile1077=) c.3247A= (p.Ile1083=) n.3620A= n.3844A= c.2416A= (p.Ile806=) c.2191A= (p.Ile731=) c.3286A= (p.Ile1096=) c.1259A= c.*582A= (n.*582A=) n.4225A= n.2826A= c.3337A= (p.Ile1113=) c.3385A= (p.Ile1129=) c.3445A= (p.Ile1149=) c.2995A= (p.Ile999=) c.1297A= (p.Ile433=) c.1114A= (p.Ile372=) c.3346A= (p.Ile1116=) c.3298A= (p.Ile1100=) c.3067A= (p.Ile1023=) c.2968A= (p.Ile990=) c.2149A= (p.Ile717=) n.3700A= | |
13 | g.51941157G>A | CA483893999 | ATP7B | c.*1130C>T (n.*1130C>T) c.*2224C>T (n.*2224C>T) c.2859C>T (p.Thr953=) c.3480C>T (p.Thr1160=) c.3147C>T (p.Thr1049=) c.3228C>T (p.Thr1076=) c.3246C>T (p.Thr1082=) n.3619C>T n.3843C>T c.2415C>T (p.Thr805=) c.2190C>T (p.Thr730=) c.3285C>T (p.Thr1095=) c.1258C>T c.*581C>T (n.*581C>T) n.4224C>T n.2825C>T c.3336C>T (p.Thr1112=) c.3384C>T (p.Thr1128=) c.3444C>T (p.Thr1148=) c.2994C>T (p.Thr998=) c.1296C>T (p.Thr432=) c.1113C>T (p.Thr371=) c.3345C>T (p.Thr1115=) c.3297C>T (p.Thr1099=) c.3066C>T (p.Thr1022=) c.2967C>T (p.Thr989=) c.2148C>T (p.Thr716=) n.3699C>T | gnomAD v4 |
13 | g.51941157G>C | CA483894001 | ATP7B | c.*1130C>G (n.*1130C>G) c.*2224C>G (n.*2224C>G) c.2859C>G (p.Thr953=) c.3480C>G (p.Thr1160=) c.3147C>G (p.Thr1049=) c.3228C>G (p.Thr1076=) c.3246C>G (p.Thr1082=) n.3619C>G n.3843C>G c.2415C>G (p.Thr805=) c.2190C>G (p.Thr730=) c.3285C>G (p.Thr1095=) c.1258C>G c.*581C>G (n.*581C>G) n.4224C>G n.2825C>G c.3336C>G (p.Thr1112=) c.3384C>G (p.Thr1128=) c.3444C>G (p.Thr1148=) c.2994C>G (p.Thr998=) c.1296C>G (p.Thr432=) c.1113C>G (p.Thr371=) c.3345C>G (p.Thr1115=) c.3297C>G (p.Thr1099=) c.3066C>G (p.Thr1022=) c.2967C>G (p.Thr989=) c.2148C>G (p.Thr716=) n.3699C>G | |
13 | g.51941157G>T | CA483894003 | ATP7B | c.*1130C>A (n.*1130C>A) c.*2224C>A (n.*2224C>A) c.2859C>A (p.Thr953=) c.3480C>A (p.Thr1160=) c.3147C>A (p.Thr1049=) c.3228C>A (p.Thr1076=) c.3246C>A (p.Thr1082=) n.3619C>A n.3843C>A c.2415C>A (p.Thr805=) c.2190C>A (p.Thr730=) c.3285C>A (p.Thr1095=) c.1258C>A c.*581C>A (n.*581C>A) n.4224C>A n.2825C>A c.3336C>A (p.Thr1112=) c.3384C>A (p.Thr1128=) c.3444C>A (p.Thr1148=) c.2994C>A (p.Thr998=) c.1296C>A (p.Thr432=) c.1113C>A (p.Thr371=) c.3345C>A (p.Thr1115=) c.3297C>A (p.Thr1099=) c.3066C>A (p.Thr1022=) c.2967C>A (p.Thr989=) c.2148C>A (p.Thr716=) n.3699C>A | |
13 | g.51941158G>A | CA6988674 | ATP7B | c.*1129C>T (n.*1129C>T) c.*2223C>T (n.*2223C>T) c.2858C>T (p.Thr953Ile) c.3479C>T (p.Thr1160Ile) c.3146C>T (p.Thr1049Ile) c.3227C>T (p.Thr1076Ile) c.3245C>T (p.Thr1082Ile) n.3618C>T n.3842C>T c.2414C>T (p.Thr805Ile) c.2189C>T (p.Thr730Ile) c.3284C>T (p.Thr1095Ile) c.1257C>T c.*580C>T (n.*580C>T) n.4223C>T n.2824C>T c.3335C>T (p.Thr1112Ile) c.3383C>T (p.Thr1128Ile) c.3443C>T (p.Thr1148Ile) c.2993C>T (p.Thr998Ile) c.1295C>T (p.Thr432Ile) c.1112C>T (p.Thr371Ile) c.3344C>T (p.Thr1115Ile) c.3296C>T (p.Thr1099Ile) c.3065C>T (p.Thr1022Ile) c.2966C>T (p.Thr989Ile) c.2147C>T (p.Thr716Ile) n.3698C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51941158G>C | CA388026449 | ATP7B | c.*1129C>G (n.*1129C>G) c.*2223C>G (n.*2223C>G) c.2858C>G (p.Thr953Ser) c.3479C>G (p.Thr1160Ser) c.3146C>G (p.Thr1049Ser) c.3227C>G (p.Thr1076Ser) c.3245C>G (p.Thr1082Ser) n.3618C>G n.3842C>G c.2414C>G (p.Thr805Ser) c.2189C>G (p.Thr730Ser) c.3284C>G (p.Thr1095Ser) c.1257C>G c.*580C>G (n.*580C>G) n.4223C>G n.2824C>G c.3335C>G (p.Thr1112Ser) c.3383C>G (p.Thr1128Ser) c.3443C>G (p.Thr1148Ser) c.2993C>G (p.Thr998Ser) c.1295C>G (p.Thr432Ser) c.1112C>G (p.Thr371Ser) c.3344C>G (p.Thr1115Ser) c.3296C>G (p.Thr1099Ser) c.3065C>G (p.Thr1022Ser) c.2966C>G (p.Thr989Ser) c.2147C>G (p.Thr716Ser) n.3698C>G | gnomAD v4 |
13 | g.51941158G= | CA2091559483 | ATP7B | c.*1129C= (n.*1129C=) c.*2223C= (n.*2223C=) c.2858C= (p.Thr953=) c.3479C= (p.Thr1160=) c.3146C= (p.Thr1049=) c.3227C= (p.Thr1076=) c.3245C= (p.Thr1082=) n.3618C= n.3842C= c.2414C= (p.Thr805=) c.2189C= (p.Thr730=) c.3284C= (p.Thr1095=) c.1257C= c.*580C= (n.*580C=) n.4223C= n.2824C= c.3335C= (p.Thr1112=) c.3383C= (p.Thr1128=) c.3443C= (p.Thr1148=) c.2993C= (p.Thr998=) c.1295C= (p.Thr432=) c.1112C= (p.Thr371=) c.3344C= (p.Thr1115=) c.3296C= (p.Thr1099=) c.3065C= (p.Thr1022=) c.2966C= (p.Thr989=) c.2147C= (p.Thr716=) n.3698C= | |
13 | g.51941158G>T | CA388026445 | ATP7B | c.*1129C>A (n.*1129C>A) c.*2223C>A (n.*2223C>A) c.2858C>A (p.Thr953Asn) c.3479C>A (p.Thr1160Asn) c.3146C>A (p.Thr1049Asn) c.3227C>A (p.Thr1076Asn) c.3245C>A (p.Thr1082Asn) n.3618C>A n.3842C>A c.2414C>A (p.Thr805Asn) c.2189C>A (p.Thr730Asn) c.3284C>A (p.Thr1095Asn) c.1257C>A c.*580C>A (n.*580C>A) n.4223C>A n.2824C>A c.3335C>A (p.Thr1112Asn) c.3383C>A (p.Thr1128Asn) c.3443C>A (p.Thr1148Asn) c.2993C>A (p.Thr998Asn) c.1295C>A (p.Thr432Asn) c.1112C>A (p.Thr371Asn) c.3344C>A (p.Thr1115Asn) c.3296C>A (p.Thr1099Asn) c.3065C>A (p.Thr1022Asn) c.2966C>A (p.Thr989Asn) c.2147C>A (p.Thr716Asn) n.3698C>A | |
13 | g.51941159T>A | CA388026453 | ATP7B | c.*1128A>T (n.*1128A>T) c.*2222A>T (n.*2222A>T) c.2857A>T (p.Thr953Ser) c.3478A>T (p.Thr1160Ser) c.3145A>T (p.Thr1049Ser) c.3226A>T (p.Thr1076Ser) c.3244A>T (p.Thr1082Ser) n.3617A>T n.3841A>T c.2413A>T (p.Thr805Ser) c.2188A>T (p.Thr730Ser) c.3283A>T (p.Thr1095Ser) c.1256A>T c.*579A>T (n.*579A>T) n.4222A>T n.2823A>T c.3334A>T (p.Thr1112Ser) c.3382A>T (p.Thr1128Ser) c.3442A>T (p.Thr1148Ser) c.2992A>T (p.Thr998Ser) c.1294A>T (p.Thr432Ser) c.1111A>T (p.Thr371Ser) c.3343A>T (p.Thr1115Ser) c.3295A>T (p.Thr1099Ser) c.3064A>T (p.Thr1022Ser) c.2965A>T (p.Thr989Ser) c.2146A>T (p.Thr716Ser) n.3697A>T | |
13 | g.51941159T>C | CA388026457 | ATP7B | c.*1128A>G (n.*1128A>G) c.*2222A>G (n.*2222A>G) c.2857A>G (p.Thr953Ala) c.3478A>G (p.Thr1160Ala) c.3145A>G (p.Thr1049Ala) c.3226A>G (p.Thr1076Ala) c.3244A>G (p.Thr1082Ala) n.3617A>G n.3841A>G c.2413A>G (p.Thr805Ala) c.2188A>G (p.Thr730Ala) c.3283A>G (p.Thr1095Ala) c.1256A>G c.*579A>G (n.*579A>G) n.4222A>G n.2823A>G c.3334A>G (p.Thr1112Ala) c.3382A>G (p.Thr1128Ala) c.3442A>G (p.Thr1148Ala) c.2992A>G (p.Thr998Ala) c.1294A>G (p.Thr432Ala) c.1111A>G (p.Thr371Ala) c.3343A>G (p.Thr1115Ala) c.3295A>G (p.Thr1099Ala) c.3064A>G (p.Thr1022Ala) c.2965A>G (p.Thr989Ala) c.2146A>G (p.Thr716Ala) n.3697A>G | |
13 | g.51941159T>G | CA388026460 | ATP7B | c.*1128A>C (n.*1128A>C) c.*2222A>C (n.*2222A>C) c.2857A>C (p.Thr953Pro) c.3478A>C (p.Thr1160Pro) c.3145A>C (p.Thr1049Pro) c.3226A>C (p.Thr1076Pro) c.3244A>C (p.Thr1082Pro) n.3617A>C n.3841A>C c.2413A>C (p.Thr805Pro) c.2188A>C (p.Thr730Pro) c.3283A>C (p.Thr1095Pro) c.1256A>C c.*579A>C (n.*579A>C) n.4222A>C n.2823A>C c.3334A>C (p.Thr1112Pro) c.3382A>C (p.Thr1128Pro) c.3442A>C (p.Thr1148Pro) c.2992A>C (p.Thr998Pro) c.1294A>C (p.Thr432Pro) c.1111A>C (p.Thr371Pro) c.3343A>C (p.Thr1115Pro) c.3295A>C (p.Thr1099Pro) c.3064A>C (p.Thr1022Pro) c.2965A>C (p.Thr989Pro) c.2146A>C (p.Thr716Pro) n.3697A>C | |
13 | g.51941160T>A | CA388026461 | ATP7B | c.*1127A>T (n.*1127A>T) c.*2221A>T (n.*2221A>T) c.2856A>T (p.Leu952Phe) c.3477A>T (p.Leu1159Phe) c.3144A>T (p.Leu1048Phe) c.3225A>T (p.Leu1075Phe) c.3243A>T (p.Leu1081Phe) n.3616A>T n.3840A>T c.2412A>T (p.Leu804Phe) c.2187A>T (p.Leu729Phe) c.3282A>T (p.Leu1094Phe) c.1255A>T c.*578A>T (n.*578A>T) n.4221A>T n.2822A>T c.3333A>T (p.Leu1111Phe) c.3381A>T (p.Leu1127Phe) c.3441A>T (p.Leu1147Phe) c.2991A>T (p.Leu997Phe) c.1293A>T (p.Leu431Phe) c.1110A>T (p.Leu370Phe) c.3342A>T (p.Leu1114Phe) c.3294A>T (p.Leu1098Phe) c.3063A>T (p.Leu1021Phe) c.2964A>T (p.Leu988Phe) c.2145A>T (p.Leu715Phe) n.3696A>T | ClinVar |
13 | g.51941160T>C | CA483894012 | ATP7B | c.*1127A>G (n.*1127A>G) c.*2221A>G (n.*2221A>G) c.2856A>G (p.Leu952=) c.3477A>G (p.Leu1159=) c.3144A>G (p.Leu1048=) c.3225A>G (p.Leu1075=) c.3243A>G (p.Leu1081=) n.3616A>G n.3840A>G c.2412A>G (p.Leu804=) c.2187A>G (p.Leu729=) c.3282A>G (p.Leu1094=) c.1255A>G c.*578A>G (n.*578A>G) n.4221A>G n.2822A>G c.3333A>G (p.Leu1111=) c.3381A>G (p.Leu1127=) c.3441A>G (p.Leu1147=) c.2991A>G (p.Leu997=) c.1293A>G (p.Leu431=) c.1110A>G (p.Leu370=) c.3342A>G (p.Leu1114=) c.3294A>G (p.Leu1098=) c.3063A>G (p.Leu1021=) c.2964A>G (p.Leu988=) c.2145A>G (p.Leu715=) n.3696A>G | |
13 | g.51941160T>G | CA388026464 | ATP7B | c.*1127A>C (n.*1127A>C) c.*2221A>C (n.*2221A>C) c.2856A>C (p.Leu952Phe) c.3477A>C (p.Leu1159Phe) c.3144A>C (p.Leu1048Phe) c.3225A>C (p.Leu1075Phe) c.3243A>C (p.Leu1081Phe) n.3616A>C n.3840A>C c.2412A>C (p.Leu804Phe) c.2187A>C (p.Leu729Phe) c.3282A>C (p.Leu1094Phe) c.1255A>C c.*578A>C (n.*578A>C) n.4221A>C n.2822A>C c.3333A>C (p.Leu1111Phe) c.3381A>C (p.Leu1127Phe) c.3441A>C (p.Leu1147Phe) c.2991A>C (p.Leu997Phe) c.1293A>C (p.Leu431Phe) c.1110A>C (p.Leu370Phe) c.3342A>C (p.Leu1114Phe) c.3294A>C (p.Leu1098Phe) c.3063A>C (p.Leu1021Phe) c.2964A>C (p.Leu988Phe) c.2145A>C (p.Leu715Phe) n.3696A>C | |
13 | g.51941161A>C | CA388026468 | ATP7B | c.*1126T>G (n.*1126T>G) c.*2220T>G (n.*2220T>G) c.2855T>G (p.Leu952Ter) c.3476T>G (p.Leu1159Ter) c.3143T>G (p.Leu1048Ter) c.3224T>G (p.Leu1075Ter) c.3242T>G (p.Leu1081Ter) n.3615T>G n.3839T>G c.2411T>G (p.Leu804Ter) c.2186T>G (p.Leu729Ter) c.3281T>G (p.Leu1094Ter) c.1254T>G c.*577T>G (n.*577T>G) n.4220T>G n.2821T>G c.3332T>G (p.Leu1111Ter) c.3380T>G (p.Leu1127Ter) c.3440T>G (p.Leu1147Ter) c.2990T>G (p.Leu997Ter) c.1292T>G (p.Leu431Ter) c.1109T>G (p.Leu370Ter) c.3341T>G (p.Leu1114Ter) c.3293T>G (p.Leu1098Ter) c.3062T>G (p.Leu1021Ter) c.2963T>G (p.Leu988Ter) c.2144T>G (p.Leu715Ter) n.3695T>G | |
13 | g.51941161A>G | CA388026469 | ATP7B | c.*1126T>C (n.*1126T>C) c.*2220T>C (n.*2220T>C) c.2855T>C (p.Leu952Ser) c.3476T>C (p.Leu1159Ser) c.3143T>C (p.Leu1048Ser) c.3224T>C (p.Leu1075Ser) c.3242T>C (p.Leu1081Ser) n.3615T>C n.3839T>C c.2411T>C (p.Leu804Ser) c.2186T>C (p.Leu729Ser) c.3281T>C (p.Leu1094Ser) c.1254T>C c.*577T>C (n.*577T>C) n.4220T>C n.2821T>C c.3332T>C (p.Leu1111Ser) c.3380T>C (p.Leu1127Ser) c.3440T>C (p.Leu1147Ser) c.2990T>C (p.Leu997Ser) c.1292T>C (p.Leu431Ser) c.1109T>C (p.Leu370Ser) c.3341T>C (p.Leu1114Ser) c.3293T>C (p.Leu1098Ser) c.3062T>C (p.Leu1021Ser) c.2963T>C (p.Leu988Ser) c.2144T>C (p.Leu715Ser) n.3695T>C | |
13 | g.51941161A>T | CA388026472 | ATP7B | c.*1126T>A (n.*1126T>A) c.*2220T>A (n.*2220T>A) c.2855T>A (p.Leu952Ter) c.3476T>A (p.Leu1159Ter) c.3143T>A (p.Leu1048Ter) c.3224T>A (p.Leu1075Ter) c.3242T>A (p.Leu1081Ter) n.3615T>A n.3839T>A c.2411T>A (p.Leu804Ter) c.2186T>A (p.Leu729Ter) c.3281T>A (p.Leu1094Ter) c.1254T>A c.*577T>A (n.*577T>A) n.4220T>A n.2821T>A c.3332T>A (p.Leu1111Ter) c.3380T>A (p.Leu1127Ter) c.3440T>A (p.Leu1147Ter) c.2990T>A (p.Leu997Ter) c.1292T>A (p.Leu431Ter) c.1109T>A (p.Leu370Ter) c.3341T>A (p.Leu1114Ter) c.3293T>A (p.Leu1098Ter) c.3062T>A (p.Leu1021Ter) c.2963T>A (p.Leu988Ter) c.2144T>A (p.Leu715Ter) n.3695T>A | |
13 | g.51941162A>C | CA388026475 | ATP7B | c.*1125T>G (n.*1125T>G) c.*2219T>G (n.*2219T>G) c.2854T>G (p.Leu952Val) c.3475T>G (p.Leu1159Val) c.3142T>G (p.Leu1048Val) c.3223T>G (p.Leu1075Val) c.3241T>G (p.Leu1081Val) n.3614T>G n.3838T>G c.2410T>G (p.Leu804Val) c.2185T>G (p.Leu729Val) c.3280T>G (p.Leu1094Val) c.1253T>G c.*576T>G (n.*576T>G) n.4219T>G n.2820T>G c.3331T>G (p.Leu1111Val) c.3379T>G (p.Leu1127Val) c.3439T>G (p.Leu1147Val) c.2989T>G (p.Leu997Val) c.1291T>G (p.Leu431Val) c.1108T>G (p.Leu370Val) c.3340T>G (p.Leu1114Val) c.3292T>G (p.Leu1098Val) c.3061T>G (p.Leu1021Val) c.2962T>G (p.Leu988Val) c.2143T>G (p.Leu715Val) n.3694T>G | |
13 | g.51941162A>G | CA483894019 | ATP7B | c.*1125T>C (n.*1125T>C) c.*2219T>C (n.*2219T>C) c.2854T>C (p.Leu952=) c.3475T>C (p.Leu1159=) c.3142T>C (p.Leu1048=) c.3223T>C (p.Leu1075=) c.3241T>C (p.Leu1081=) n.3614T>C n.3838T>C c.2410T>C (p.Leu804=) c.2185T>C (p.Leu729=) c.3280T>C (p.Leu1094=) c.1253T>C c.*576T>C (n.*576T>C) n.4219T>C n.2820T>C c.3331T>C (p.Leu1111=) c.3379T>C (p.Leu1127=) c.3439T>C (p.Leu1147=) c.2989T>C (p.Leu997=) c.1291T>C (p.Leu431=) c.1108T>C (p.Leu370=) c.3340T>C (p.Leu1114=) c.3292T>C (p.Leu1098=) c.3061T>C (p.Leu1021=) c.2962T>C (p.Leu988=) c.2143T>C (p.Leu715=) n.3694T>C | gnomAD v4 |
13 | g.51941162A>T | CA388026476 | ATP7B | c.*1125T>A (n.*1125T>A) c.*2219T>A (n.*2219T>A) c.2854T>A (p.Leu952Ile) c.3475T>A (p.Leu1159Ile) c.3142T>A (p.Leu1048Ile) c.3223T>A (p.Leu1075Ile) c.3241T>A (p.Leu1081Ile) n.3614T>A n.3838T>A c.2410T>A (p.Leu804Ile) c.2185T>A (p.Leu729Ile) c.3280T>A (p.Leu1094Ile) c.1253T>A c.*576T>A (n.*576T>A) n.4219T>A n.2820T>A c.3331T>A (p.Leu1111Ile) c.3379T>A (p.Leu1127Ile) c.3439T>A (p.Leu1147Ile) c.2989T>A (p.Leu997Ile) c.1291T>A (p.Leu431Ile) c.1108T>A (p.Leu370Ile) c.3340T>A (p.Leu1114Ile) c.3292T>A (p.Leu1098Ile) c.3061T>A (p.Leu1021Ile) c.2962T>A (p.Leu988Ile) c.2143T>A (p.Leu715Ile) n.3694T>A | |
13 | g.51941163A= | CA2091559487 | ATP7B | c.*1124T= (n.*1124T=) c.*2218T= (n.*2218T=) c.2853T= (p.Gly951=) c.3474T= (p.Gly1158=) c.3141T= (p.Gly1047=) c.3222T= (p.Gly1074=) c.3240T= (p.Gly1080=) n.3613T= n.3837T= c.2409T= (p.Gly803=) c.2184T= (p.Gly728=) c.3279T= (p.Gly1093=) c.1252T= c.*575T= (n.*575T=) n.4218T= n.2819T= c.3330T= (p.Gly1110=) c.3378T= (p.Gly1126=) c.3438T= (p.Gly1146=) c.2988T= (p.Gly996=) c.1290T= (p.Gly430=) c.1107T= (p.Gly369=) c.3339T= (p.Gly1113=) c.3291T= (p.Gly1097=) c.3060T= (p.Gly1020=) c.2961T= (p.Gly987=) c.2142T= (p.Gly714=) n.3693T= | |
13 | g.51941163A>C | CA483894026 | ATP7B | c.*1124T>G (n.*1124T>G) c.*2218T>G (n.*2218T>G) c.2853T>G (p.Gly951=) c.3474T>G (p.Gly1158=) c.3141T>G (p.Gly1047=) c.3222T>G (p.Gly1074=) c.3240T>G (p.Gly1080=) n.3613T>G n.3837T>G c.2409T>G (p.Gly803=) c.2184T>G (p.Gly728=) c.3279T>G (p.Gly1093=) c.1252T>G c.*575T>G (n.*575T>G) n.4218T>G n.2819T>G c.3330T>G (p.Gly1110=) c.3378T>G (p.Gly1126=) c.3438T>G (p.Gly1146=) c.2988T>G (p.Gly996=) c.1290T>G (p.Gly430=) c.1107T>G (p.Gly369=) c.3339T>G (p.Gly1113=) c.3291T>G (p.Gly1097=) c.3060T>G (p.Gly1020=) c.2961T>G (p.Gly987=) c.2142T>G (p.Gly714=) n.3693T>G | dbSNP |
13 | g.51941163A>G | CA483894022 | ATP7B | c.*1124T>C (n.*1124T>C) c.*2218T>C (n.*2218T>C) c.2853T>C (p.Gly951=) c.3474T>C (p.Gly1158=) c.3141T>C (p.Gly1047=) c.3222T>C (p.Gly1074=) c.3240T>C (p.Gly1080=) n.3613T>C n.3837T>C c.2409T>C (p.Gly803=) c.2184T>C (p.Gly728=) c.3279T>C (p.Gly1093=) c.1252T>C c.*575T>C (n.*575T>C) n.4218T>C n.2819T>C c.3330T>C (p.Gly1110=) c.3378T>C (p.Gly1126=) c.3438T>C (p.Gly1146=) c.2988T>C (p.Gly996=) c.1290T>C (p.Gly430=) c.1107T>C (p.Gly369=) c.3339T>C (p.Gly1113=) c.3291T>C (p.Gly1097=) c.3060T>C (p.Gly1020=) c.2961T>C (p.Gly987=) c.2142T>C (p.Gly714=) n.3693T>C | |
13 | g.51941163A>T | CA483894024 | ATP7B | c.*1124T>A (n.*1124T>A) c.*2218T>A (n.*2218T>A) c.2853T>A (p.Gly951=) c.3474T>A (p.Gly1158=) c.3141T>A (p.Gly1047=) c.3222T>A (p.Gly1074=) c.3240T>A (p.Gly1080=) n.3613T>A n.3837T>A c.2409T>A (p.Gly803=) c.2184T>A (p.Gly728=) c.3279T>A (p.Gly1093=) c.1252T>A c.*575T>A (n.*575T>A) n.4218T>A n.2819T>A c.3330T>A (p.Gly1110=) c.3378T>A (p.Gly1126=) c.3438T>A (p.Gly1146=) c.2988T>A (p.Gly996=) c.1290T>A (p.Gly430=) c.1107T>A (p.Gly369=) c.3339T>A (p.Gly1113=) c.3291T>A (p.Gly1097=) c.3060T>A (p.Gly1020=) c.2961T>A (p.Gly987=) c.2142T>A (p.Gly714=) n.3693T>A | |
13 | g.51941164C>A | CA6988675 | ATP7B | c.*1123G>T (n.*1123G>T) c.*2217G>T (n.*2217G>T) c.2852G>T (p.Gly951Val) c.3473G>T (p.Gly1158Val) c.3140G>T (p.Gly1047Val) c.3221G>T (p.Gly1074Val) c.3239G>T (p.Gly1080Val) n.3612G>T n.3836G>T c.2408G>T (p.Gly803Val) c.2183G>T (p.Gly728Val) c.3278G>T (p.Gly1093Val) c.1251G>T c.*574G>T (n.*574G>T) n.4217G>T n.2818G>T c.3329G>T (p.Gly1110Val) c.3377G>T (p.Gly1126Val) c.3437G>T (p.Gly1146Val) c.2987G>T (p.Gly996Val) c.1289G>T (p.Gly430Val) c.1106G>T (p.Gly369Val) c.3338G>T (p.Gly1113Val) c.3290G>T (p.Gly1097Val) c.3059G>T (p.Gly1020Val) c.2960G>T (p.Gly987Val) c.2141G>T (p.Gly714Val) n.3692G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51941164C= | CA2091559490 | ATP7B | c.*1123G= (n.*1123G=) c.*2217G= (n.*2217G=) c.2852G= (p.Gly951=) c.3473G= (p.Gly1158=) c.3140G= (p.Gly1047=) c.3221G= (p.Gly1074=) c.3239G= (p.Gly1080=) n.3612G= n.3836G= c.2408G= (p.Gly803=) c.2183G= (p.Gly728=) c.3278G= (p.Gly1093=) c.1251G= c.*574G= (n.*574G=) n.4217G= n.2818G= c.3329G= (p.Gly1110=) c.3377G= (p.Gly1126=) c.3437G= (p.Gly1146=) c.2987G= (p.Gly996=) c.1289G= (p.Gly430=) c.1106G= (p.Gly369=) c.3338G= (p.Gly1113=) c.3290G= (p.Gly1097=) c.3059G= (p.Gly1020=) c.2960G= (p.Gly987=) c.2141G= (p.Gly714=) n.3692G= | |
13 | g.51941164C>G | CA388026477 | ATP7B | c.*1123G>C (n.*1123G>C) c.*2217G>C (n.*2217G>C) c.2852G>C (p.Gly951Ala) c.3473G>C (p.Gly1158Ala) c.3140G>C (p.Gly1047Ala) c.3221G>C (p.Gly1074Ala) c.3239G>C (p.Gly1080Ala) n.3612G>C n.3836G>C c.2408G>C (p.Gly803Ala) c.2183G>C (p.Gly728Ala) c.3278G>C (p.Gly1093Ala) c.1251G>C c.*574G>C (n.*574G>C) n.4217G>C n.2818G>C c.3329G>C (p.Gly1110Ala) c.3377G>C (p.Gly1126Ala) c.3437G>C (p.Gly1146Ala) c.2987G>C (p.Gly996Ala) c.1289G>C (p.Gly430Ala) c.1106G>C (p.Gly369Ala) c.3338G>C (p.Gly1113Ala) c.3290G>C (p.Gly1097Ala) c.3059G>C (p.Gly1020Ala) c.2960G>C (p.Gly987Ala) c.2141G>C (p.Gly714Ala) n.3692G>C | |
13 | g.51941164C>T | CA388026478 | ATP7B | c.*1123G>A (n.*1123G>A) c.*2217G>A (n.*2217G>A) c.2852G>A (p.Gly951Asp) c.3473G>A (p.Gly1158Asp) c.3140G>A (p.Gly1047Asp) c.3221G>A (p.Gly1074Asp) c.3239G>A (p.Gly1080Asp) n.3612G>A n.3836G>A c.2408G>A (p.Gly803Asp) c.2183G>A (p.Gly728Asp) c.3278G>A (p.Gly1093Asp) c.1251G>A c.*574G>A (n.*574G>A) n.4217G>A n.2818G>A c.3329G>A (p.Gly1110Asp) c.3377G>A (p.Gly1126Asp) c.3437G>A (p.Gly1146Asp) c.2987G>A (p.Gly996Asp) c.1289G>A (p.Gly430Asp) c.1106G>A (p.Gly369Asp) c.3338G>A (p.Gly1113Asp) c.3290G>A (p.Gly1097Asp) c.3059G>A (p.Gly1020Asp) c.2960G>A (p.Gly987Asp) c.2141G>A (p.Gly714Asp) n.3692G>A | dbSNP gnomAD v4 |
13 | g.51941165C>A | CA388026480 | ATP7B | c.*1122G>T (n.*1122G>T) c.*2216G>T (n.*2216G>T) c.2851G>T (p.Gly951Cys) c.3472G>T (p.Gly1158Cys) c.3139G>T (p.Gly1047Cys) c.3220G>T (p.Gly1074Cys) c.3238G>T (p.Gly1080Cys) n.3611G>T n.3835G>T c.2407G>T (p.Gly803Cys) c.2182G>T (p.Gly728Cys) c.3277G>T (p.Gly1093Cys) c.1250G>T c.*573G>T (n.*573G>T) n.4216G>T n.2817G>T c.3328G>T (p.Gly1110Cys) c.3376G>T (p.Gly1126Cys) c.3436G>T (p.Gly1146Cys) c.2986G>T (p.Gly996Cys) c.1288G>T (p.Gly430Cys) c.1105G>T (p.Gly369Cys) c.3337G>T (p.Gly1113Cys) c.3289G>T (p.Gly1097Cys) c.3058G>T (p.Gly1020Cys) c.2959G>T (p.Gly987Cys) c.2140G>T (p.Gly714Cys) n.3691G>T | |
13 | g.51941165C= | CA2091559495 | ATP7B | c.*1122G= (n.*1122G=) c.*2216G= (n.*2216G=) c.2851G= (p.Gly951=) c.3472G= (p.Gly1158=) c.3139G= (p.Gly1047=) c.3220G= (p.Gly1074=) c.3238G= (p.Gly1080=) n.3611G= n.3835G= c.2407G= (p.Gly803=) c.2182G= (p.Gly728=) c.3277G= (p.Gly1093=) c.1250G= c.*573G= (n.*573G=) n.4216G= n.2817G= c.3328G= (p.Gly1110=) c.3376G= (p.Gly1126=) c.3436G= (p.Gly1146=) c.2986G= (p.Gly996=) c.1288G= (p.Gly430=) c.1105G= (p.Gly369=) c.3337G= (p.Gly1113=) c.3289G= (p.Gly1097=) c.3058G= (p.Gly1020=) c.2959G= (p.Gly987=) c.2140G= (p.Gly714=) n.3691G= | |
13 | g.51941165C>G | CA6988676 | ATP7B | c.*1122G>C (n.*1122G>C) c.*2216G>C (n.*2216G>C) c.2851G>C (p.Gly951Arg) c.3472G>C (p.Gly1158Arg) c.3139G>C (p.Gly1047Arg) c.3220G>C (p.Gly1074Arg) c.3238G>C (p.Gly1080Arg) n.3611G>C n.3835G>C c.2407G>C (p.Gly803Arg) c.2182G>C (p.Gly728Arg) c.3277G>C (p.Gly1093Arg) c.1250G>C c.*573G>C (n.*573G>C) n.4216G>C n.2817G>C c.3328G>C (p.Gly1110Arg) c.3376G>C (p.Gly1126Arg) c.3436G>C (p.Gly1146Arg) c.2986G>C (p.Gly996Arg) c.1288G>C (p.Gly430Arg) c.1105G>C (p.Gly369Arg) c.3337G>C (p.Gly1113Arg) c.3289G>C (p.Gly1097Arg) c.3058G>C (p.Gly1020Arg) c.2959G>C (p.Gly987Arg) c.2140G>C (p.Gly714Arg) n.3691G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51941165C>T | CA6988677 | ATP7B | c.*1122G>A (n.*1122G>A) c.*2216G>A (n.*2216G>A) c.2851G>A (p.Gly951Ser) c.3472G>A (p.Gly1158Ser) c.3139G>A (p.Gly1047Ser) c.3220G>A (p.Gly1074Ser) c.3238G>A (p.Gly1080Ser) n.3611G>A n.3835G>A c.2407G>A (p.Gly803Ser) c.2182G>A (p.Gly728Ser) c.3277G>A (p.Gly1093Ser) c.1250G>A c.*573G>A (n.*573G>A) n.4216G>A n.2817G>A c.3328G>A (p.Gly1110Ser) c.3376G>A (p.Gly1126Ser) c.3436G>A (p.Gly1146Ser) c.2986G>A (p.Gly996Ser) c.1288G>A (p.Gly430Ser) c.1105G>A (p.Gly369Ser) c.3337G>A (p.Gly1113Ser) c.3289G>A (p.Gly1097Ser) c.3058G>A (p.Gly1020Ser) c.2959G>A (p.Gly987Ser) c.2140G>A (p.Gly714Ser) n.3691G>A | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
13 | g.51941166G>A | CA6988678 | ATP7B | c.*1121C>T (n.*1121C>T) c.*2215C>T (n.*2215C>T) c.2850C>T (p.Asn950=) c.3471C>T (p.Asn1157=) c.3138C>T (p.Asn1046=) c.3219C>T (p.Asn1073=) c.3237C>T (p.Asn1079=) n.3610C>T n.3834C>T c.2406C>T (p.Asn802=) c.2181C>T (p.Asn727=) c.3276C>T (p.Asn1092=) c.1249C>T c.*572C>T (n.*572C>T) n.4215C>T n.2816C>T c.3327C>T (p.Asn1109=) c.3375C>T (p.Asn1125=) c.3435C>T (p.Asn1145=) c.2985C>T (p.Asn995=) c.1287C>T (p.Asn429=) c.1104C>T (p.Asn368=) c.3336C>T (p.Asn1112=) c.3288C>T (p.Asn1096=) c.3057C>T (p.Asn1019=) c.2958C>T (p.Asn986=) c.2139C>T (p.Asn713=) n.3690C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51941166G>C | CA388026484 | ATP7B | c.*1121C>G (n.*1121C>G) c.*2215C>G (n.*2215C>G) c.2850C>G (p.Asn950Lys) c.3471C>G (p.Asn1157Lys) c.3138C>G (p.Asn1046Lys) c.3219C>G (p.Asn1073Lys) c.3237C>G (p.Asn1079Lys) n.3610C>G n.3834C>G c.2406C>G (p.Asn802Lys) c.2181C>G (p.Asn727Lys) c.3276C>G (p.Asn1092Lys) c.1249C>G c.*572C>G (n.*572C>G) n.4215C>G n.2816C>G c.3327C>G (p.Asn1109Lys) c.3375C>G (p.Asn1125Lys) c.3435C>G (p.Asn1145Lys) c.2985C>G (p.Asn995Lys) c.1287C>G (p.Asn429Lys) c.1104C>G (p.Asn368Lys) c.3336C>G (p.Asn1112Lys) c.3288C>G (p.Asn1096Lys) c.3057C>G (p.Asn1019Lys) c.2958C>G (p.Asn986Lys) c.2139C>G (p.Asn713Lys) n.3690C>G | |
13 | g.51941166G= | CA2091559499 | ATP7B | c.*1121C= (n.*1121C=) c.*2215C= (n.*2215C=) c.2850C= (p.Asn950=) c.3471C= (p.Asn1157=) c.3138C= (p.Asn1046=) c.3219C= (p.Asn1073=) c.3237C= (p.Asn1079=) n.3610C= n.3834C= c.2406C= (p.Asn802=) c.2181C= (p.Asn727=) c.3276C= (p.Asn1092=) c.1249C= c.*572C= (n.*572C=) n.4215C= n.2816C= c.3327C= (p.Asn1109=) c.3375C= (p.Asn1125=) c.3435C= (p.Asn1145=) c.2985C= (p.Asn995=) c.1287C= (p.Asn429=) c.1104C= (p.Asn368=) c.3336C= (p.Asn1112=) c.3288C= (p.Asn1096=) c.3057C= (p.Asn1019=) c.2958C= (p.Asn986=) c.2139C= (p.Asn713=) n.3690C= | |
13 | g.51941166G>T | CA388026487 | ATP7B | c.*1121C>A (n.*1121C>A) c.*2215C>A (n.*2215C>A) c.2850C>A (p.Asn950Lys) c.3471C>A (p.Asn1157Lys) c.3138C>A (p.Asn1046Lys) c.3219C>A (p.Asn1073Lys) c.3237C>A (p.Asn1079Lys) n.3610C>A n.3834C>A c.2406C>A (p.Asn802Lys) c.2181C>A (p.Asn727Lys) c.3276C>A (p.Asn1092Lys) c.1249C>A c.*572C>A (n.*572C>A) n.4215C>A n.2816C>A c.3327C>A (p.Asn1109Lys) c.3375C>A (p.Asn1125Lys) c.3435C>A (p.Asn1145Lys) c.2985C>A (p.Asn995Lys) c.1287C>A (p.Asn429Lys) c.1104C>A (p.Asn368Lys) c.3336C>A (p.Asn1112Lys) c.3288C>A (p.Asn1096Lys) c.3057C>A (p.Asn1019Lys) c.2958C>A (p.Asn986Lys) c.2139C>A (p.Asn713Lys) n.3690C>A | |
13 | g.51941167T>A | CA388026490 | ATP7B | c.*1120A>T (n.*1120A>T) c.*2214A>T (n.*2214A>T) c.2849A>T (p.Asn950Ile) c.3470A>T (p.Asn1157Ile) c.3137A>T (p.Asn1046Ile) c.3218A>T (p.Asn1073Ile) c.3236A>T (p.Asn1079Ile) n.3609A>T n.3833A>T c.2405A>T (p.Asn802Ile) c.2180A>T (p.Asn727Ile) c.3275A>T (p.Asn1092Ile) c.1248A>T c.*571A>T (n.*571A>T) n.4214A>T n.2815A>T c.3326A>T (p.Asn1109Ile) c.3374A>T (p.Asn1125Ile) c.3434A>T (p.Asn1145Ile) c.2984A>T (p.Asn995Ile) c.1286A>T (p.Asn429Ile) c.1103A>T (p.Asn368Ile) c.3335A>T (p.Asn1112Ile) c.3287A>T (p.Asn1096Ile) c.3056A>T (p.Asn1019Ile) c.2957A>T (p.Asn986Ile) c.2138A>T (p.Asn713Ile) n.3689A>T | |
13 | g.51941167T>C | CA388026500 | ATP7B | c.*1120A>G (n.*1120A>G) c.*2214A>G (n.*2214A>G) c.2849A>G (p.Asn950Ser) c.3470A>G (p.Asn1157Ser) c.3137A>G (p.Asn1046Ser) c.3218A>G (p.Asn1073Ser) c.3236A>G (p.Asn1079Ser) n.3609A>G n.3833A>G c.2405A>G (p.Asn802Ser) c.2180A>G (p.Asn727Ser) c.3275A>G (p.Asn1092Ser) c.1248A>G c.*571A>G (n.*571A>G) n.4214A>G n.2815A>G c.3326A>G (p.Asn1109Ser) c.3374A>G (p.Asn1125Ser) c.3434A>G (p.Asn1145Ser) c.2984A>G (p.Asn995Ser) c.1286A>G (p.Asn429Ser) c.1103A>G (p.Asn368Ser) c.3335A>G (p.Asn1112Ser) c.3287A>G (p.Asn1096Ser) c.3056A>G (p.Asn1019Ser) c.2957A>G (p.Asn986Ser) c.2138A>G (p.Asn713Ser) n.3689A>G | |
13 | g.51941167T>G | CA388026503 | ATP7B | c.*1120A>C (n.*1120A>C) c.*2214A>C (n.*2214A>C) c.2849A>C (p.Asn950Thr) c.3470A>C (p.Asn1157Thr) c.3137A>C (p.Asn1046Thr) c.3218A>C (p.Asn1073Thr) c.3236A>C (p.Asn1079Thr) n.3609A>C n.3833A>C c.2405A>C (p.Asn802Thr) c.2180A>C (p.Asn727Thr) c.3275A>C (p.Asn1092Thr) c.1248A>C c.*571A>C (n.*571A>C) n.4214A>C n.2815A>C c.3326A>C (p.Asn1109Thr) c.3374A>C (p.Asn1125Thr) c.3434A>C (p.Asn1145Thr) c.2984A>C (p.Asn995Thr) c.1286A>C (p.Asn429Thr) c.1103A>C (p.Asn368Thr) c.3335A>C (p.Asn1112Thr) c.3287A>C (p.Asn1096Thr) c.3056A>C (p.Asn1019Thr) c.2957A>C (p.Asn986Thr) c.2138A>C (p.Asn713Thr) n.3689A>C | |
13 | g.51941168T>A | CA388026507 | ATP7B | c.*1119A>T (n.*1119A>T) c.*2213A>T (n.*2213A>T) c.2848A>T (p.Asn950Tyr) c.3469A>T (p.Asn1157Tyr) c.3136A>T (p.Asn1046Tyr) c.3217A>T (p.Asn1073Tyr) c.3235A>T (p.Asn1079Tyr) n.3608A>T n.3832A>T c.2404A>T (p.Asn802Tyr) c.2179A>T (p.Asn727Tyr) c.3274A>T (p.Asn1092Tyr) c.1247A>T c.*570A>T (n.*570A>T) n.4213A>T n.2814A>T c.3325A>T (p.Asn1109Tyr) c.3373A>T (p.Asn1125Tyr) c.3433A>T (p.Asn1145Tyr) c.2983A>T (p.Asn995Tyr) c.1285A>T (p.Asn429Tyr) c.1102A>T (p.Asn368Tyr) c.3334A>T (p.Asn1112Tyr) c.3286A>T (p.Asn1096Tyr) c.3055A>T (p.Asn1019Tyr) c.2956A>T (p.Asn986Tyr) c.2137A>T (p.Asn713Tyr) n.3688A>T | |
13 | g.51941168T>C | CA388026509 | ATP7B | c.*1119A>G (n.*1119A>G) c.*2213A>G (n.*2213A>G) c.2848A>G (p.Asn950Asp) c.3469A>G (p.Asn1157Asp) c.3136A>G (p.Asn1046Asp) c.3217A>G (p.Asn1073Asp) c.3235A>G (p.Asn1079Asp) n.3608A>G n.3832A>G c.2404A>G (p.Asn802Asp) c.2179A>G (p.Asn727Asp) c.3274A>G (p.Asn1092Asp) c.1247A>G c.*570A>G (n.*570A>G) n.4213A>G n.2814A>G c.3325A>G (p.Asn1109Asp) c.3373A>G (p.Asn1125Asp) c.3433A>G (p.Asn1145Asp) c.2983A>G (p.Asn995Asp) c.1285A>G (p.Asn429Asp) c.1102A>G (p.Asn368Asp) c.3334A>G (p.Asn1112Asp) c.3286A>G (p.Asn1096Asp) c.3055A>G (p.Asn1019Asp) c.2956A>G (p.Asn986Asp) c.2137A>G (p.Asn713Asp) n.3688A>G | |
13 | g.51941168T>G | CA388026511 | ATP7B | c.*1119A>C (n.*1119A>C) c.*2213A>C (n.*2213A>C) c.2848A>C (p.Asn950His) c.3469A>C (p.Asn1157His) c.3136A>C (p.Asn1046His) c.3217A>C (p.Asn1073His) c.3235A>C (p.Asn1079His) n.3608A>C n.3832A>C c.2404A>C (p.Asn802His) c.2179A>C (p.Asn727His) c.3274A>C (p.Asn1092His) c.1247A>C c.*570A>C (n.*570A>C) n.4213A>C n.2814A>C c.3325A>C (p.Asn1109His) c.3373A>C (p.Asn1125His) c.3433A>C (p.Asn1145His) c.2983A>C (p.Asn995His) c.1285A>C (p.Asn429His) c.1102A>C (p.Asn368His) c.3334A>C (p.Asn1112His) c.3286A>C (p.Asn1096His) c.3055A>C (p.Asn1019His) c.2956A>C (p.Asn986His) c.2137A>C (p.Asn713His) n.3688A>C | |
13 | g.51941169G>A | CA483894051 | ATP7B | c.*1118C>T (n.*1118C>T) c.*2212C>T (n.*2212C>T) c.2847C>T (p.Arg949=) c.3468C>T (p.Arg1156=) c.3135C>T (p.Arg1045=) c.3216C>T (p.Arg1072=) c.3234C>T (p.Arg1078=) n.3607C>T n.3831C>T c.2403C>T (p.Arg801=) c.2178C>T (p.Arg726=) c.3273C>T (p.Arg1091=) c.1246C>T c.*569C>T (n.*569C>T) n.4212C>T n.2813C>T c.3324C>T (p.Arg1108=) c.3372C>T (p.Arg1124=) c.3432C>T (p.Arg1144=) c.2982C>T (p.Arg994=) c.1284C>T (p.Arg428=) c.1101C>T (p.Arg367=) c.3333C>T (p.Arg1111=) c.3285C>T (p.Arg1095=) c.3054C>T (p.Arg1018=) c.2955C>T (p.Arg985=) c.2136C>T (p.Arg712=) n.3687C>T | gnomAD v4 |
13 | g.51941169G>C | CA483894049 | ATP7B | c.*1118C>G (n.*1118C>G) c.*2212C>G (n.*2212C>G) c.2847C>G (p.Arg949=) c.3468C>G (p.Arg1156=) c.3135C>G (p.Arg1045=) c.3216C>G (p.Arg1072=) c.3234C>G (p.Arg1078=) n.3607C>G n.3831C>G c.2403C>G (p.Arg801=) c.2178C>G (p.Arg726=) c.3273C>G (p.Arg1091=) c.1246C>G c.*569C>G (n.*569C>G) n.4212C>G n.2813C>G c.3324C>G (p.Arg1108=) c.3372C>G (p.Arg1124=) c.3432C>G (p.Arg1144=) c.2982C>G (p.Arg994=) c.1284C>G (p.Arg428=) c.1101C>G (p.Arg367=) c.3333C>G (p.Arg1111=) c.3285C>G (p.Arg1095=) c.3054C>G (p.Arg1018=) c.2955C>G (p.Arg985=) c.2136C>G (p.Arg712=) n.3687C>G | |
13 | g.51941169G>T | CA483894053 | ATP7B | c.*1118C>A (n.*1118C>A) c.*2212C>A (n.*2212C>A) c.2847C>A (p.Arg949=) c.3468C>A (p.Arg1156=) c.3135C>A (p.Arg1045=) c.3216C>A (p.Arg1072=) c.3234C>A (p.Arg1078=) n.3607C>A n.3831C>A c.2403C>A (p.Arg801=) c.2178C>A (p.Arg726=) c.3273C>A (p.Arg1091=) c.1246C>A c.*569C>A (n.*569C>A) n.4212C>A n.2813C>A c.3324C>A (p.Arg1108=) c.3372C>A (p.Arg1124=) c.3432C>A (p.Arg1144=) c.2982C>A (p.Arg994=) c.1284C>A (p.Arg428=) c.1101C>A (p.Arg367=) c.3333C>A (p.Arg1111=) c.3285C>A (p.Arg1095=) c.3054C>A (p.Arg1018=) c.2955C>A (p.Arg985=) c.2136C>A (p.Arg712=) n.3687C>A | |
13 | g.51941169dup | CA2575420561 | ATP7B | c.*1118dup (n.*1118dup) c.*2212dup (n.*2212dup) c.2847dup (p.Asn950GlnfsTer7) c.3468dup (p.Asn1157GlnfsTer7) c.3135dup (p.Asn1046GlnfsTer7) c.3216dup (p.Asn1073GlnfsTer7) c.3234dup (p.Asn1079GlnfsTer7) n.3607dup n.3831dup c.2403dup (p.Asn802GlnfsTer7) c.2178dup (p.Asn727GlnfsTer7) c.3273dup (p.Asn1092GlnfsTer7) c.1246dup c.*569dup (n.*569dup) n.4212dup n.2813dup c.3324dup (p.Asn1109GlnfsTer7) c.3372dup (p.Asn1125GlnfsTer7) c.3432dup (p.Asn1145GlnfsTer7) c.2982dup (p.Asn995GlnfsTer7) c.1284dup (p.Asn429GlnfsTer7) c.1101dup (p.Asn368GlnfsTer7) c.3333dup (p.Asn1112GlnfsTer7) c.3285dup (p.Asn1096GlnfsTer7) c.3054dup (p.Asn1019GlnfsTer7) c.2955dup (p.Asn986GlnfsTer7) c.2136dup (p.Asn713GlnfsTer7) n.3687dup | |
13 | g.51941170C>A | CA388026515 | ATP7B | c.*1117G>T (n.*1117G>T) c.*2211G>T (n.*2211G>T) c.2846G>T (p.Arg949Leu) c.3467G>T (p.Arg1156Leu) c.3134G>T (p.Arg1045Leu) c.3215G>T (p.Arg1072Leu) c.3233G>T (p.Arg1078Leu) n.3606G>T n.3830G>T c.2402G>T (p.Arg801Leu) c.2177G>T (p.Arg726Leu) c.3272G>T (p.Arg1091Leu) c.1245G>T c.*568G>T (n.*568G>T) n.4211G>T n.2812G>T c.3323G>T (p.Arg1108Leu) c.3371G>T (p.Arg1124Leu) c.3431G>T (p.Arg1144Leu) c.2981G>T (p.Arg994Leu) c.1283G>T (p.Arg428Leu) c.1100G>T (p.Arg367Leu) c.3332G>T (p.Arg1111Leu) c.3284G>T (p.Arg1095Leu) c.3053G>T (p.Arg1018Leu) c.2954G>T (p.Arg985Leu) c.2135G>T (p.Arg712Leu) n.3686G>T | |
13 | g.51941170C= | CA2091559503 | ATP7B | c.*1117G= (n.*1117G=) c.*2211G= (n.*2211G=) c.2846G= (p.Arg949=) c.3467G= (p.Arg1156=) c.3134G= (p.Arg1045=) c.3215G= (p.Arg1072=) c.3233G= (p.Arg1078=) n.3606G= n.3830G= c.2402G= (p.Arg801=) c.2177G= (p.Arg726=) c.3272G= (p.Arg1091=) c.1245G= c.*568G= (n.*568G=) n.4211G= n.2812G= c.3323G= (p.Arg1108=) c.3371G= (p.Arg1124=) c.3431G= (p.Arg1144=) c.2981G= (p.Arg994=) c.1283G= (p.Arg428=) c.1100G= (p.Arg367=) c.3332G= (p.Arg1111=) c.3284G= (p.Arg1095=) c.3053G= (p.Arg1018=) c.2954G= (p.Arg985=) c.2135G= (p.Arg712=) n.3686G= | |
13 | g.51941170C>G | CA388026517 | ATP7B | c.*1117G>C (n.*1117G>C) c.*2211G>C (n.*2211G>C) c.2846G>C (p.Arg949Pro) c.3467G>C (p.Arg1156Pro) c.3134G>C (p.Arg1045Pro) c.3215G>C (p.Arg1072Pro) c.3233G>C (p.Arg1078Pro) n.3606G>C n.3830G>C c.2402G>C (p.Arg801Pro) c.2177G>C (p.Arg726Pro) c.3272G>C (p.Arg1091Pro) c.1245G>C c.*568G>C (n.*568G>C) n.4211G>C n.2812G>C c.3323G>C (p.Arg1108Pro) c.3371G>C (p.Arg1124Pro) c.3431G>C (p.Arg1144Pro) c.2981G>C (p.Arg994Pro) c.1283G>C (p.Arg428Pro) c.1100G>C (p.Arg367Pro) c.3332G>C (p.Arg1111Pro) c.3284G>C (p.Arg1095Pro) c.3053G>C (p.Arg1018Pro) c.2954G>C (p.Arg985Pro) c.2135G>C (p.Arg712Pro) n.3686G>C | |
13 | g.51941170C>T | CA6988679 | ATP7B | c.*1117G>A (n.*1117G>A) c.*2211G>A (n.*2211G>A) c.2846G>A (p.Arg949His) c.3467G>A (p.Arg1156His) c.3134G>A (p.Arg1045His) c.3215G>A (p.Arg1072His) c.3233G>A (p.Arg1078His) n.3606G>A n.3830G>A c.2402G>A (p.Arg801His) c.2177G>A (p.Arg726His) c.3272G>A (p.Arg1091His) c.1245G>A c.*568G>A (n.*568G>A) n.4211G>A n.2812G>A c.3323G>A (p.Arg1108His) c.3371G>A (p.Arg1124His) c.3431G>A (p.Arg1144His) c.2981G>A (p.Arg994His) c.1283G>A (p.Arg428His) c.1100G>A (p.Arg367His) c.3332G>A (p.Arg1111His) c.3284G>A (p.Arg1095His) c.3053G>A (p.Arg1018His) c.2954G>A (p.Arg985His) c.2135G>A (p.Arg712His) n.3686G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.51941171G>A | CA388026522 | ATP7B | c.*1116C>T (n.*1116C>T) c.*2210C>T (n.*2210C>T) c.2845C>T (p.Arg949Cys) c.3466C>T (p.Arg1156Cys) c.3133C>T (p.Arg1045Cys) c.3214C>T (p.Arg1072Cys) c.3232C>T (p.Arg1078Cys) n.3605C>T n.3829C>T c.2401C>T (p.Arg801Cys) c.2176C>T (p.Arg726Cys) c.3271C>T (p.Arg1091Cys) c.1244C>T c.*567C>T (n.*567C>T) n.4210C>T n.2811C>T c.3322C>T (p.Arg1108Cys) c.3370C>T (p.Arg1124Cys) c.3430C>T (p.Arg1144Cys) c.2980C>T (p.Arg994Cys) c.1282C>T (p.Arg428Cys) c.1099C>T (p.Arg367Cys) c.3331C>T (p.Arg1111Cys) c.3283C>T (p.Arg1095Cys) c.3052C>T (p.Arg1018Cys) c.2953C>T (p.Arg985Cys) c.2134C>T (p.Arg712Cys) n.3685C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
13 | g.51941171G>C | CA388026526 | ATP7B | c.*1116C>G (n.*1116C>G) c.*2210C>G (n.*2210C>G) c.2845C>G (p.Arg949Gly) c.3466C>G (p.Arg1156Gly) c.3133C>G (p.Arg1045Gly) c.3214C>G (p.Arg1072Gly) c.3232C>G (p.Arg1078Gly) n.3605C>G n.3829C>G c.2401C>G (p.Arg801Gly) c.2176C>G (p.Arg726Gly) c.3271C>G (p.Arg1091Gly) c.1244C>G c.*567C>G (n.*567C>G) n.4210C>G n.2811C>G c.3322C>G (p.Arg1108Gly) c.3370C>G (p.Arg1124Gly) c.3430C>G (p.Arg1144Gly) c.2980C>G (p.Arg994Gly) c.1282C>G (p.Arg428Gly) c.1099C>G (p.Arg367Gly) c.3331C>G (p.Arg1111Gly) c.3283C>G (p.Arg1095Gly) c.3052C>G (p.Arg1018Gly) c.2953C>G (p.Arg985Gly) c.2134C>G (p.Arg712Gly) n.3685C>G | |
13 | g.51941171G= | CA2091559506 | ATP7B | c.*1116C= (n.*1116C=) c.*2210C= (n.*2210C=) c.2845C= (p.Arg949=) c.3466C= (p.Arg1156=) c.3133C= (p.Arg1045=) c.3214C= (p.Arg1072=) c.3232C= (p.Arg1078=) n.3605C= n.3829C= c.2401C= (p.Arg801=) c.2176C= (p.Arg726=) c.3271C= (p.Arg1091=) c.1244C= c.*567C= (n.*567C=) n.4210C= n.2811C= c.3322C= (p.Arg1108=) c.3370C= (p.Arg1124=) c.3430C= (p.Arg1144=) c.2980C= (p.Arg994=) c.1282C= (p.Arg428=) c.1099C= (p.Arg367=) c.3331C= (p.Arg1111=) c.3283C= (p.Arg1095=) c.3052C= (p.Arg1018=) c.2953C= (p.Arg985=) c.2134C= (p.Arg712=) n.3685C= | |
13 | g.51941171G>T | CA388026521 | ATP7B | c.*1116C>A (n.*1116C>A) c.*2210C>A (n.*2210C>A) c.2845C>A (p.Arg949Ser) c.3466C>A (p.Arg1156Ser) c.3133C>A (p.Arg1045Ser) c.3214C>A (p.Arg1072Ser) c.3232C>A (p.Arg1078Ser) n.3605C>A n.3829C>A c.2401C>A (p.Arg801Ser) c.2176C>A (p.Arg726Ser) c.3271C>A (p.Arg1091Ser) c.1244C>A c.*567C>A (n.*567C>A) n.4210C>A n.2811C>A c.3322C>A (p.Arg1108Ser) c.3370C>A (p.Arg1124Ser) c.3430C>A (p.Arg1144Ser) c.2980C>A (p.Arg994Ser) c.1282C>A (p.Arg428Ser) c.1099C>A (p.Arg367Ser) c.3331C>A (p.Arg1111Ser) c.3283C>A (p.Arg1095Ser) c.3052C>A (p.Arg1018Ser) c.2953C>A (p.Arg985Ser) c.2134C>A (p.Arg712Ser) n.3685C>A | dbSNP gnomAD v2 |
13 | g.51941172C>A | CA6988680 | ATP7B | c.*1115G>T (n.*1115G>T) c.*2209G>T (n.*2209G>T) c.2844G>T (p.Arg948Ser) c.3465G>T (p.Arg1155Ser) c.3132G>T (p.Arg1044Ser) c.3213G>T (p.Arg1071Ser) c.3231G>T (p.Arg1077Ser) n.3604G>T n.3828G>T c.2400G>T (p.Arg800Ser) c.2175G>T (p.Arg725Ser) c.3270G>T (p.Arg1090Ser) c.1243G>T c.*566G>T (n.*566G>T) n.4209G>T n.2810G>T c.3321G>T (p.Arg1107Ser) c.3369G>T (p.Arg1123Ser) c.3429G>T (p.Arg1143Ser) c.2979G>T (p.Arg993Ser) c.1281G>T (p.Arg427Ser) c.1098G>T (p.Arg366Ser) c.3330G>T (p.Arg1110Ser) c.3282G>T (p.Arg1094Ser) c.3051G>T (p.Arg1017Ser) c.2952G>T (p.Arg984Ser) c.2133G>T (p.Arg711Ser) n.3684G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51941172C= | CA2091559511 | ATP7B | c.*1115G= (n.*1115G=) c.*2209G= (n.*2209G=) c.2844G= (p.Arg948=) c.3465G= (p.Arg1155=) c.3132G= (p.Arg1044=) c.3213G= (p.Arg1071=) c.3231G= (p.Arg1077=) n.3604G= n.3828G= c.2400G= (p.Arg800=) c.2175G= (p.Arg725=) c.3270G= (p.Arg1090=) c.1243G= c.*566G= (n.*566G=) n.4209G= n.2810G= c.3321G= (p.Arg1107=) c.3369G= (p.Arg1123=) c.3429G= (p.Arg1143=) c.2979G= (p.Arg993=) c.1281G= (p.Arg427=) c.1098G= (p.Arg366=) c.3330G= (p.Arg1110=) c.3282G= (p.Arg1094=) c.3051G= (p.Arg1017=) c.2952G= (p.Arg984=) c.2133G= (p.Arg711=) n.3684G= | |
13 | g.51941172C>G | CA388026532 | ATP7B | c.*1115G>C (n.*1115G>C) c.*2209G>C (n.*2209G>C) c.2844G>C (p.Arg948Ser) c.3465G>C (p.Arg1155Ser) c.3132G>C (p.Arg1044Ser) c.3213G>C (p.Arg1071Ser) c.3231G>C (p.Arg1077Ser) n.3604G>C n.3828G>C c.2400G>C (p.Arg800Ser) c.2175G>C (p.Arg725Ser) c.3270G>C (p.Arg1090Ser) c.1243G>C c.*566G>C (n.*566G>C) n.4209G>C n.2810G>C c.3321G>C (p.Arg1107Ser) c.3369G>C (p.Arg1123Ser) c.3429G>C (p.Arg1143Ser) c.2979G>C (p.Arg993Ser) c.1281G>C (p.Arg427Ser) c.1098G>C (p.Arg366Ser) c.3330G>C (p.Arg1110Ser) c.3282G>C (p.Arg1094Ser) c.3051G>C (p.Arg1017Ser) c.2952G>C (p.Arg984Ser) c.2133G>C (p.Arg711Ser) n.3684G>C | |
13 | g.51941172C>T | CA483894063 | ATP7B | c.*1115G>A (n.*1115G>A) c.*2209G>A (n.*2209G>A) c.2844G>A (p.Arg948=) c.3465G>A (p.Arg1155=) c.3132G>A (p.Arg1044=) c.3213G>A (p.Arg1071=) c.3231G>A (p.Arg1077=) n.3604G>A n.3828G>A c.2400G>A (p.Arg800=) c.2175G>A (p.Arg725=) c.3270G>A (p.Arg1090=) c.1243G>A c.*566G>A (n.*566G>A) n.4209G>A n.2810G>A c.3321G>A (p.Arg1107=) c.3369G>A (p.Arg1123=) c.3429G>A (p.Arg1143=) c.2979G>A (p.Arg993=) c.1281G>A (p.Arg427=) c.1098G>A (p.Arg366=) c.3330G>A (p.Arg1110=) c.3282G>A (p.Arg1094=) c.3051G>A (p.Arg1017=) c.2952G>A (p.Arg984=) c.2133G>A (p.Arg711=) n.3684G>A | |
13 | g.51941173C>A | CA388026539 | ATP7B | c.*1114G>T (n.*1114G>T) c.*2208G>T (n.*2208G>T) c.2843G>T (p.Arg948Met) c.3464G>T (p.Arg1155Met) c.3131G>T (p.Arg1044Met) c.3212G>T (p.Arg1071Met) c.3230G>T (p.Arg1077Met) n.3603G>T n.3827G>T c.2399G>T (p.Arg800Met) c.2174G>T (p.Arg725Met) c.3269G>T (p.Arg1090Met) c.1242G>T c.*565G>T (n.*565G>T) n.4208G>T n.2809G>T c.3320G>T (p.Arg1107Met) c.3368G>T (p.Arg1123Met) c.3428G>T (p.Arg1143Met) c.2978G>T (p.Arg993Met) c.1280G>T (p.Arg427Met) c.1097G>T (p.Arg366Met) c.3329G>T (p.Arg1110Met) c.3281G>T (p.Arg1094Met) c.3050G>T (p.Arg1017Met) c.2951G>T (p.Arg984Met) c.2132G>T (p.Arg711Met) n.3683G>T | |
13 | g.51941173C= | CA2091559516 | ATP7B | c.*1114G= (n.*1114G=) c.*2208G= (n.*2208G=) c.2843G= (p.Arg948=) c.3464G= (p.Arg1155=) c.3131G= (p.Arg1044=) c.3212G= (p.Arg1071=) c.3230G= (p.Arg1077=) n.3603G= n.3827G= c.2399G= (p.Arg800=) c.2174G= (p.Arg725=) c.3269G= (p.Arg1090=) c.1242G= c.*565G= (n.*565G=) n.4208G= n.2809G= c.3320G= (p.Arg1107=) c.3368G= (p.Arg1123=) c.3428G= (p.Arg1143=) c.2978G= (p.Arg993=) c.1280G= (p.Arg427=) c.1097G= (p.Arg366=) c.3329G= (p.Arg1110=) c.3281G= (p.Arg1094=) c.3050G= (p.Arg1017=) c.2951G= (p.Arg984=) c.2132G= (p.Arg711=) n.3683G= | |
13 | g.51941173C>G | CA388026536 | ATP7B | c.*1114G>C (n.*1114G>C) c.*2208G>C (n.*2208G>C) c.2843G>C (p.Arg948Thr) c.3464G>C (p.Arg1155Thr) c.3131G>C (p.Arg1044Thr) c.3212G>C (p.Arg1071Thr) c.3230G>C (p.Arg1077Thr) n.3603G>C n.3827G>C c.2399G>C (p.Arg800Thr) c.2174G>C (p.Arg725Thr) c.3269G>C (p.Arg1090Thr) c.1242G>C c.*565G>C (n.*565G>C) n.4208G>C n.2809G>C c.3320G>C (p.Arg1107Thr) c.3368G>C (p.Arg1123Thr) c.3428G>C (p.Arg1143Thr) c.2978G>C (p.Arg993Thr) c.1280G>C (p.Arg427Thr) c.1097G>C (p.Arg366Thr) c.3329G>C (p.Arg1110Thr) c.3281G>C (p.Arg1094Thr) c.3050G>C (p.Arg1017Thr) c.2951G>C (p.Arg984Thr) c.2132G>C (p.Arg711Thr) n.3683G>C | |
13 | g.51941173C>T | CA388026538 | ATP7B | c.*1114G>A (n.*1114G>A) c.*2208G>A (n.*2208G>A) c.2843G>A (p.Arg948Lys) c.3464G>A (p.Arg1155Lys) c.3131G>A (p.Arg1044Lys) c.3212G>A (p.Arg1071Lys) c.3230G>A (p.Arg1077Lys) n.3603G>A n.3827G>A c.2399G>A (p.Arg800Lys) c.2174G>A (p.Arg725Lys) c.3269G>A (p.Arg1090Lys) c.1242G>A c.*565G>A (n.*565G>A) n.4208G>A n.2809G>A c.3320G>A (p.Arg1107Lys) c.3368G>A (p.Arg1123Lys) c.3428G>A (p.Arg1143Lys) c.2978G>A (p.Arg993Lys) c.1280G>A (p.Arg427Lys) c.1097G>A (p.Arg366Lys) c.3329G>A (p.Arg1110Lys) c.3281G>A (p.Arg1094Lys) c.3050G>A (p.Arg1017Lys) c.2951G>A (p.Arg984Lys) c.2132G>A (p.Arg711Lys) n.3683G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51941174_51941175del | CA2580087736 | ATP7B | c.*1113_*1114del (n.*1113_*1114del) c.*2207_*2208del (n.*2207_*2208del) c.2842_2843del (p.Arg948AlafsTer8) c.3463_3464del (p.Arg1155AlafsTer8) c.3130_3131del (p.Arg1044AlafsTer8) c.3211_3212del (p.Arg1071AlafsTer8) c.3229_3230del (p.Arg1077AlafsTer8) n.3602_3603del n.3826_3827del c.2398_2399del (p.Arg800AlafsTer8) c.2173_2174del (p.Arg725AlafsTer8) c.3268_3269del (p.Arg1090AlafsTer8) c.1241_1242del c.*564_*565del (n.*564_*565del) n.4207_4208del n.2808_2809del c.3319_3320del (p.Arg1107AlafsTer8) c.3367_3368del (p.Arg1123AlafsTer8) c.3427_3428del (p.Arg1143AlafsTer8) c.2977_2978del (p.Arg993AlafsTer8) c.1279_1280del (p.Arg427AlafsTer8) c.1096_1097del (p.Arg366AlafsTer8) c.3328_3329del (p.Arg1110AlafsTer8) c.3280_3281del (p.Arg1094AlafsTer8) c.3049_3050del (p.Arg1017AlafsTer8) c.2950_2951del (p.Arg984AlafsTer8) c.2131_2132del (p.Arg711AlafsTer8) n.3682_3683del | ClinVar |
13 | g.51941174T>A | CA388026541 | ATP7B | c.*1113A>T (n.*1113A>T) c.*2207A>T (n.*2207A>T) c.2842A>T (p.Arg948Trp) c.3463A>T (p.Arg1155Trp) c.3130A>T (p.Arg1044Trp) c.3211A>T (p.Arg1071Trp) c.3229A>T (p.Arg1077Trp) n.3602A>T n.3826A>T c.2398A>T (p.Arg800Trp) c.2173A>T (p.Arg725Trp) c.3268A>T (p.Arg1090Trp) c.1241A>T c.*564A>T (n.*564A>T) n.4207A>T n.2808A>T c.3319A>T (p.Arg1107Trp) c.3367A>T (p.Arg1123Trp) c.3427A>T (p.Arg1143Trp) c.2977A>T (p.Arg993Trp) c.1279A>T (p.Arg427Trp) c.1096A>T (p.Arg366Trp) c.3328A>T (p.Arg1110Trp) c.3280A>T (p.Arg1094Trp) c.3049A>T (p.Arg1017Trp) c.2950A>T (p.Arg984Trp) c.2131A>T (p.Arg711Trp) n.3682A>T | |
13 | g.51941174T>C | CA250077285 | ATP7B | c.*1113A>G (n.*1113A>G) c.*2207A>G (n.*2207A>G) c.2842A>G (p.Arg948Gly) c.3463A>G (p.Arg1155Gly) c.3130A>G (p.Arg1044Gly) c.3211A>G (p.Arg1071Gly) c.3229A>G (p.Arg1077Gly) n.3602A>G n.3826A>G c.2398A>G (p.Arg800Gly) c.2173A>G (p.Arg725Gly) c.3268A>G (p.Arg1090Gly) c.1241A>G c.*564A>G (n.*564A>G) n.4207A>G n.2808A>G c.3319A>G (p.Arg1107Gly) c.3367A>G (p.Arg1123Gly) c.3427A>G (p.Arg1143Gly) c.2977A>G (p.Arg993Gly) c.1279A>G (p.Arg427Gly) c.1096A>G (p.Arg366Gly) c.3328A>G (p.Arg1110Gly) c.3280A>G (p.Arg1094Gly) c.3049A>G (p.Arg1017Gly) c.2950A>G (p.Arg984Gly) c.2131A>G (p.Arg711Gly) n.3682A>G | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51941174T>G | CA483894070 | ATP7B | c.*1113A>C (n.*1113A>C) c.*2207A>C (n.*2207A>C) c.2842A>C (p.Arg948=) c.3463A>C (p.Arg1155=) c.3130A>C (p.Arg1044=) c.3211A>C (p.Arg1071=) c.3229A>C (p.Arg1077=) n.3602A>C n.3826A>C c.2398A>C (p.Arg800=) c.2173A>C (p.Arg725=) c.3268A>C (p.Arg1090=) c.1241A>C c.*564A>C (n.*564A>C) n.4207A>C n.2808A>C c.3319A>C (p.Arg1107=) c.3367A>C (p.Arg1123=) c.3427A>C (p.Arg1143=) c.2977A>C (p.Arg993=) c.1279A>C (p.Arg427=) c.1096A>C (p.Arg366=) c.3328A>C (p.Arg1110=) c.3280A>C (p.Arg1094=) c.3049A>C (p.Arg1017=) c.2950A>C (p.Arg984=) c.2131A>C (p.Arg711=) n.3682A>C | |
13 | g.51941174T= | CA2091559518 | ATP7B | c.*1113A= (n.*1113A=) c.*2207A= (n.*2207A=) c.2842A= (p.Arg948=) c.3463A= (p.Arg1155=) c.3130A= (p.Arg1044=) c.3211A= (p.Arg1071=) c.3229A= (p.Arg1077=) n.3602A= n.3826A= c.2398A= (p.Arg800=) c.2173A= (p.Arg725=) c.3268A= (p.Arg1090=) c.1241A= c.*564A= (n.*564A=) n.4207A= n.2808A= c.3319A= (p.Arg1107=) c.3367A= (p.Arg1123=) c.3427A= (p.Arg1143=) c.2977A= (p.Arg993=) c.1279A= (p.Arg427=) c.1096A= (p.Arg366=) c.3328A= (p.Arg1110=) c.3280A= (p.Arg1094=) c.3049A= (p.Arg1017=) c.2950A= (p.Arg984=) c.2131A= (p.Arg711=) n.3682A= | |
13 | g.51941175C>A | CA483894072 | ATP7B | c.*1112G>T (n.*1112G>T) c.*2206G>T (n.*2206G>T) c.2841G>T (p.Leu947=) c.3462G>T (p.Leu1154=) c.3129G>T (p.Leu1043=) c.3210G>T (p.Leu1070=) c.3228G>T (p.Leu1076=) n.3601G>T n.3825G>T c.2397G>T (p.Leu799=) c.2172G>T (p.Leu724=) c.3267G>T (p.Leu1089=) c.1240G>T c.*563G>T (n.*563G>T) n.4206G>T n.2807G>T c.3318G>T (p.Leu1106=) c.3366G>T (p.Leu1122=) c.3426G>T (p.Leu1142=) c.2976G>T (p.Leu992=) c.1278G>T (p.Leu426=) c.1095G>T (p.Leu365=) c.3327G>T (p.Leu1109=) c.3279G>T (p.Leu1093=) c.3048G>T (p.Leu1016=) c.2949G>T (p.Leu983=) c.2130G>T (p.Leu710=) n.3681G>T | |
13 | g.51941175C= | CA2091559520 | ATP7B | c.*1112G= (n.*1112G=) c.*2206G= (n.*2206G=) c.2841G= (p.Leu947=) c.3462G= (p.Leu1154=) c.3129G= (p.Leu1043=) c.3210G= (p.Leu1070=) c.3228G= (p.Leu1076=) n.3601G= n.3825G= c.2397G= (p.Leu799=) c.2172G= (p.Leu724=) c.3267G= (p.Leu1089=) c.1240G= c.*563G= (n.*563G=) n.4206G= n.2807G= c.3318G= (p.Leu1106=) c.3366G= (p.Leu1122=) c.3426G= (p.Leu1142=) c.2976G= (p.Leu992=) c.1278G= (p.Leu426=) c.1095G= (p.Leu365=) c.3327G= (p.Leu1109=) c.3279G= (p.Leu1093=) c.3048G= (p.Leu1016=) c.2949G= (p.Leu983=) c.2130G= (p.Leu710=) n.3681G= | |
13 | g.51941175C>G | CA483894074 | ATP7B | c.*1112G>C (n.*1112G>C) c.*2206G>C (n.*2206G>C) c.2841G>C (p.Leu947=) c.3462G>C (p.Leu1154=) c.3129G>C (p.Leu1043=) c.3210G>C (p.Leu1070=) c.3228G>C (p.Leu1076=) n.3601G>C n.3825G>C c.2397G>C (p.Leu799=) c.2172G>C (p.Leu724=) c.3267G>C (p.Leu1089=) c.1240G>C c.*563G>C (n.*563G>C) n.4206G>C n.2807G>C c.3318G>C (p.Leu1106=) c.3366G>C (p.Leu1122=) c.3426G>C (p.Leu1142=) c.2976G>C (p.Leu992=) c.1278G>C (p.Leu426=) c.1095G>C (p.Leu365=) c.3327G>C (p.Leu1109=) c.3279G>C (p.Leu1093=) c.3048G>C (p.Leu1016=) c.2949G>C (p.Leu983=) c.2130G>C (p.Leu710=) n.3681G>C | |
13 | g.51941175C>T | CA6988681 | ATP7B | c.*1112G>A (n.*1112G>A) c.*2206G>A (n.*2206G>A) c.2841G>A (p.Leu947=) c.3462G>A (p.Leu1154=) c.3129G>A (p.Leu1043=) c.3210G>A (p.Leu1070=) c.3228G>A (p.Leu1076=) n.3601G>A n.3825G>A c.2397G>A (p.Leu799=) c.2172G>A (p.Leu724=) c.3267G>A (p.Leu1089=) c.1240G>A c.*563G>A (n.*563G>A) n.4206G>A n.2807G>A c.3318G>A (p.Leu1106=) c.3366G>A (p.Leu1122=) c.3426G>A (p.Leu1142=) c.2976G>A (p.Leu992=) c.1278G>A (p.Leu426=) c.1095G>A (p.Leu365=) c.3327G>A (p.Leu1109=) c.3279G>A (p.Leu1093=) c.3048G>A (p.Leu1016=) c.2949G>A (p.Leu983=) c.2130G>A (p.Leu710=) n.3681G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51941176A>C | CA388026552 | ATP7B | c.*1111T>G (n.*1111T>G) c.*2205T>G (n.*2205T>G) c.2840T>G (p.Leu947Arg) c.3461T>G (p.Leu1154Arg) c.3128T>G (p.Leu1043Arg) c.3209T>G (p.Leu1070Arg) c.3227T>G (p.Leu1076Arg) n.3600T>G n.3824T>G c.2396T>G (p.Leu799Arg) c.2171T>G (p.Leu724Arg) c.3266T>G (p.Leu1089Arg) c.1239T>G c.*562T>G (n.*562T>G) n.4205T>G n.2806T>G c.3317T>G (p.Leu1106Arg) c.3365T>G (p.Leu1122Arg) c.3425T>G (p.Leu1142Arg) c.2975T>G (p.Leu992Arg) c.1277T>G (p.Leu426Arg) c.1094T>G (p.Leu365Arg) c.3326T>G (p.Leu1109Arg) c.3278T>G (p.Leu1093Arg) c.3047T>G (p.Leu1016Arg) c.2948T>G (p.Leu983Arg) c.2129T>G (p.Leu710Arg) n.3680T>G | |
13 | g.51941176A>G | CA388026554 | ATP7B | c.*1111T>C (n.*1111T>C) c.*2205T>C (n.*2205T>C) c.2840T>C (p.Leu947Pro) c.3461T>C (p.Leu1154Pro) c.3128T>C (p.Leu1043Pro) c.3209T>C (p.Leu1070Pro) c.3227T>C (p.Leu1076Pro) n.3600T>C n.3824T>C c.2396T>C (p.Leu799Pro) c.2171T>C (p.Leu724Pro) c.3266T>C (p.Leu1089Pro) c.1239T>C c.*562T>C (n.*562T>C) n.4205T>C n.2806T>C c.3317T>C (p.Leu1106Pro) c.3365T>C (p.Leu1122Pro) c.3425T>C (p.Leu1142Pro) c.2975T>C (p.Leu992Pro) c.1277T>C (p.Leu426Pro) c.1094T>C (p.Leu365Pro) c.3326T>C (p.Leu1109Pro) c.3278T>C (p.Leu1093Pro) c.3047T>C (p.Leu1016Pro) c.2948T>C (p.Leu983Pro) c.2129T>C (p.Leu710Pro) n.3680T>C | |
13 | g.51941176A>T | CA388026556 | ATP7B | c.*1111T>A (n.*1111T>A) c.*2205T>A (n.*2205T>A) c.2840T>A (p.Leu947Gln) c.3461T>A (p.Leu1154Gln) c.3128T>A (p.Leu1043Gln) c.3209T>A (p.Leu1070Gln) c.3227T>A (p.Leu1076Gln) n.3600T>A n.3824T>A c.2396T>A (p.Leu799Gln) c.2171T>A (p.Leu724Gln) c.3266T>A (p.Leu1089Gln) c.1239T>A c.*562T>A (n.*562T>A) n.4205T>A n.2806T>A c.3317T>A (p.Leu1106Gln) c.3365T>A (p.Leu1122Gln) c.3425T>A (p.Leu1142Gln) c.2975T>A (p.Leu992Gln) c.1277T>A (p.Leu426Gln) c.1094T>A (p.Leu365Gln) c.3326T>A (p.Leu1109Gln) c.3278T>A (p.Leu1093Gln) c.3047T>A (p.Leu1016Gln) c.2948T>A (p.Leu983Gln) c.2129T>A (p.Leu710Gln) n.3680T>A | |
13 | g.51941177G>A | CA483894079 | ATP7B | c.*1110C>T (n.*1110C>T) c.*2204C>T (n.*2204C>T) c.2839C>T (p.Leu947=) c.3460C>T (p.Leu1154=) c.3127C>T (p.Leu1043=) c.3208C>T (p.Leu1070=) c.3226C>T (p.Leu1076=) n.3599C>T n.3823C>T c.2395C>T (p.Leu799=) c.2170C>T (p.Leu724=) c.3265C>T (p.Leu1089=) c.1238C>T c.*561C>T (n.*561C>T) n.4204C>T n.2805C>T c.3316C>T (p.Leu1106=) c.3364C>T (p.Leu1122=) c.3424C>T (p.Leu1142=) c.2974C>T (p.Leu992=) c.1276C>T (p.Leu426=) c.1093C>T (p.Leu365=) c.3325C>T (p.Leu1109=) c.3277C>T (p.Leu1093=) c.3046C>T (p.Leu1016=) c.2947C>T (p.Leu983=) c.2128C>T (p.Leu710=) n.3679C>T | dbSNP gnomAD v4 |
13 | g.51941177G>C | CA388026557 | ATP7B | c.*1110C>G (n.*1110C>G) c.*2204C>G (n.*2204C>G) c.2839C>G (p.Leu947Val) c.3460C>G (p.Leu1154Val) c.3127C>G (p.Leu1043Val) c.3208C>G (p.Leu1070Val) c.3226C>G (p.Leu1076Val) n.3599C>G n.3823C>G c.2395C>G (p.Leu799Val) c.2170C>G (p.Leu724Val) c.3265C>G (p.Leu1089Val) c.1238C>G c.*561C>G (n.*561C>G) n.4204C>G n.2805C>G c.3316C>G (p.Leu1106Val) c.3364C>G (p.Leu1122Val) c.3424C>G (p.Leu1142Val) c.2974C>G (p.Leu992Val) c.1276C>G (p.Leu426Val) c.1093C>G (p.Leu365Val) c.3325C>G (p.Leu1109Val) c.3277C>G (p.Leu1093Val) c.3046C>G (p.Leu1016Val) c.2947C>G (p.Leu983Val) c.2128C>G (p.Leu710Val) n.3679C>G | |
13 | g.51941177G= | CA2091559524 | ATP7B | c.*1110C= (n.*1110C=) c.*2204C= (n.*2204C=) c.2839C= (p.Leu947=) c.3460C= (p.Leu1154=) c.3127C= (p.Leu1043=) c.3208C= (p.Leu1070=) c.3226C= (p.Leu1076=) n.3599C= n.3823C= c.2395C= (p.Leu799=) c.2170C= (p.Leu724=) c.3265C= (p.Leu1089=) c.1238C= c.*561C= (n.*561C=) n.4204C= n.2805C= c.3316C= (p.Leu1106=) c.3364C= (p.Leu1122=) c.3424C= (p.Leu1142=) c.2974C= (p.Leu992=) c.1276C= (p.Leu426=) c.1093C= (p.Leu365=) c.3325C= (p.Leu1109=) c.3277C= (p.Leu1093=) c.3046C= (p.Leu1016=) c.2947C= (p.Leu983=) c.2128C= (p.Leu710=) n.3679C= | |
13 | g.51941177G>T | CA388026558 | ATP7B | c.*1110C>A (n.*1110C>A) c.*2204C>A (n.*2204C>A) c.2839C>A (p.Leu947Met) c.3460C>A (p.Leu1154Met) c.3127C>A (p.Leu1043Met) c.3208C>A (p.Leu1070Met) c.3226C>A (p.Leu1076Met) n.3599C>A n.3823C>A c.2395C>A (p.Leu799Met) c.2170C>A (p.Leu724Met) c.3265C>A (p.Leu1089Met) c.1238C>A c.*561C>A (n.*561C>A) n.4204C>A n.2805C>A c.3316C>A (p.Leu1106Met) c.3364C>A (p.Leu1122Met) c.3424C>A (p.Leu1142Met) c.2974C>A (p.Leu992Met) c.1276C>A (p.Leu426Met) c.1093C>A (p.Leu365Met) c.3325C>A (p.Leu1109Met) c.3277C>A (p.Leu1093Met) c.3046C>A (p.Leu1016Met) c.2947C>A (p.Leu983Met) c.2128C>A (p.Leu710Met) n.3679C>A | |
13 | g.51941178C>A | CA388026562 | ATP7B | c.*1109G>T (n.*1109G>T) c.*2203G>T (n.*2203G>T) c.2838G>T (p.Trp946Cys) c.3459G>T (p.Trp1153Cys) c.3126G>T (p.Trp1042Cys) c.3207G>T (p.Trp1069Cys) c.3225G>T (p.Trp1075Cys) n.3598G>T n.3822G>T c.2394G>T (p.Trp798Cys) c.2169G>T (p.Trp723Cys) c.3264G>T (p.Trp1088Cys) c.1237G>T c.*560G>T (n.*560G>T) n.4203G>T n.2804G>T c.3315G>T (p.Trp1105Cys) c.3363G>T (p.Trp1121Cys) c.3423G>T (p.Trp1141Cys) c.2973G>T (p.Trp991Cys) c.1275G>T (p.Trp425Cys) c.1092G>T (p.Trp364Cys) c.3324G>T (p.Trp1108Cys) c.3276G>T (p.Trp1092Cys) c.3045G>T (p.Trp1015Cys) c.2946G>T (p.Trp982Cys) c.2127G>T (p.Trp709Cys) n.3678G>T | dbSNP gnomAD v4 |
13 | g.51941178C= | CA2091559527 | ATP7B | c.*1109G= (n.*1109G=) c.*2203G= (n.*2203G=) c.2838G= (p.Trp946=) c.3459G= (p.Trp1153=) c.3126G= (p.Trp1042=) c.3207G= (p.Trp1069=) c.3225G= (p.Trp1075=) n.3598G= n.3822G= c.2394G= (p.Trp798=) c.2169G= (p.Trp723=) c.3264G= (p.Trp1088=) c.1237G= c.*560G= (n.*560G=) n.4203G= n.2804G= c.3315G= (p.Trp1105=) c.3363G= (p.Trp1121=) c.3423G= (p.Trp1141=) c.2973G= (p.Trp991=) c.1275G= (p.Trp425=) c.1092G= (p.Trp364=) c.3324G= (p.Trp1108=) c.3276G= (p.Trp1092=) c.3045G= (p.Trp1015=) c.2946G= (p.Trp982=) c.2127G= (p.Trp709=) n.3678G= | |
13 | g.51941178C>G | CA388026567 | ATP7B | c.*1109G>C (n.*1109G>C) c.*2203G>C (n.*2203G>C) c.2838G>C (p.Trp946Cys) c.3459G>C (p.Trp1153Cys) c.3126G>C (p.Trp1042Cys) c.3207G>C (p.Trp1069Cys) c.3225G>C (p.Trp1075Cys) n.3598G>C n.3822G>C c.2394G>C (p.Trp798Cys) c.2169G>C (p.Trp723Cys) c.3264G>C (p.Trp1088Cys) c.1237G>C c.*560G>C (n.*560G>C) n.4203G>C n.2804G>C c.3315G>C (p.Trp1105Cys) c.3363G>C (p.Trp1121Cys) c.3423G>C (p.Trp1141Cys) c.2973G>C (p.Trp991Cys) c.1275G>C (p.Trp425Cys) c.1092G>C (p.Trp364Cys) c.3324G>C (p.Trp1108Cys) c.3276G>C (p.Trp1092Cys) c.3045G>C (p.Trp1015Cys) c.2946G>C (p.Trp982Cys) c.2127G>C (p.Trp709Cys) n.3678G>C | |
13 | g.51941178C>T | CA388026570 | ATP7B | c.*1109G>A (n.*1109G>A) c.*2203G>A (n.*2203G>A) c.2838G>A (p.Trp946Ter) c.3459G>A (p.Trp1153Ter) c.3126G>A (p.Trp1042Ter) c.3207G>A (p.Trp1069Ter) c.3225G>A (p.Trp1075Ter) n.3598G>A n.3822G>A c.2394G>A (p.Trp798Ter) c.2169G>A (p.Trp723Ter) c.3264G>A (p.Trp1088Ter) c.1237G>A c.*560G>A (n.*560G>A) n.4203G>A n.2804G>A c.3315G>A (p.Trp1105Ter) c.3363G>A (p.Trp1121Ter) c.3423G>A (p.Trp1141Ter) c.2973G>A (p.Trp991Ter) c.1275G>A (p.Trp425Ter) c.1092G>A (p.Trp364Ter) c.3324G>A (p.Trp1108Ter) c.3276G>A (p.Trp1092Ter) c.3045G>A (p.Trp1015Ter) c.2946G>A (p.Trp982Ter) c.2127G>A (p.Trp709Ter) n.3678G>A | |
13 | g.51941179C>A | CA388026584 | ATP7B | c.*1108G>T (n.*1108G>T) c.*2202G>T (n.*2202G>T) c.2837G>T (p.Trp946Leu) c.3458G>T (p.Trp1153Leu) c.3125G>T (p.Trp1042Leu) c.3206G>T (p.Trp1069Leu) c.3224G>T (p.Trp1075Leu) n.3597G>T n.3821G>T c.2393G>T (p.Trp798Leu) c.2168G>T (p.Trp723Leu) c.3263G>T (p.Trp1088Leu) c.1236G>T c.*559G>T (n.*559G>T) n.4202G>T n.2803G>T c.3314G>T (p.Trp1105Leu) c.3362G>T (p.Trp1121Leu) c.3422G>T (p.Trp1141Leu) c.2972G>T (p.Trp991Leu) c.1274G>T (p.Trp425Leu) c.1091G>T (p.Trp364Leu) c.3323G>T (p.Trp1108Leu) c.3275G>T (p.Trp1092Leu) c.3044G>T (p.Trp1015Leu) c.2945G>T (p.Trp982Leu) c.2126G>T (p.Trp709Leu) n.3677G>T | gnomAD v4 |
13 | g.51941179C= | CA2091559530 | ATP7B | c.*1108G= (n.*1108G=) c.*2202G= (n.*2202G=) c.2837G= (p.Trp946=) c.3458G= (p.Trp1153=) c.3125G= (p.Trp1042=) c.3206G= (p.Trp1069=) c.3224G= (p.Trp1075=) n.3597G= n.3821G= c.2393G= (p.Trp798=) c.2168G= (p.Trp723=) c.3263G= (p.Trp1088=) c.1236G= c.*559G= (n.*559G=) n.4202G= n.2803G= c.3314G= (p.Trp1105=) c.3362G= (p.Trp1121=) c.3422G= (p.Trp1141=) c.2972G= (p.Trp991=) c.1274G= (p.Trp425=) c.1091G= (p.Trp364=) c.3323G= (p.Trp1108=) c.3275G= (p.Trp1092=) c.3044G= (p.Trp1015=) c.2945G= (p.Trp982=) c.2126G= (p.Trp709=) n.3677G= | |
13 | g.51941179C>G | CA388026582 | ATP7B | c.*1108G>C (n.*1108G>C) c.*2202G>C (n.*2202G>C) c.2837G>C (p.Trp946Ser) c.3458G>C (p.Trp1153Ser) c.3125G>C (p.Trp1042Ser) c.3206G>C (p.Trp1069Ser) c.3224G>C (p.Trp1075Ser) n.3597G>C n.3821G>C c.2393G>C (p.Trp798Ser) c.2168G>C (p.Trp723Ser) c.3263G>C (p.Trp1088Ser) c.1236G>C c.*559G>C (n.*559G>C) n.4202G>C n.2803G>C c.3314G>C (p.Trp1105Ser) c.3362G>C (p.Trp1121Ser) c.3422G>C (p.Trp1141Ser) c.2972G>C (p.Trp991Ser) c.1274G>C (p.Trp425Ser) c.1091G>C (p.Trp364Ser) c.3323G>C (p.Trp1108Ser) c.3275G>C (p.Trp1092Ser) c.3044G>C (p.Trp1015Ser) c.2945G>C (p.Trp982Ser) c.2126G>C (p.Trp709Ser) n.3677G>C | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51941179C>T | CA388026573 | ATP7B | c.*1108G>A (n.*1108G>A) c.*2202G>A (n.*2202G>A) c.2837G>A (p.Trp946Ter) c.3458G>A (p.Trp1153Ter) c.3125G>A (p.Trp1042Ter) c.3206G>A (p.Trp1069Ter) c.3224G>A (p.Trp1075Ter) n.3597G>A n.3821G>A c.2393G>A (p.Trp798Ter) c.2168G>A (p.Trp723Ter) c.3263G>A (p.Trp1088Ter) c.1236G>A c.*559G>A (n.*559G>A) n.4202G>A n.2803G>A c.3314G>A (p.Trp1105Ter) c.3362G>A (p.Trp1121Ter) c.3422G>A (p.Trp1141Ter) c.2972G>A (p.Trp991Ter) c.1274G>A (p.Trp425Ter) c.1091G>A (p.Trp364Ter) c.3323G>A (p.Trp1108Ter) c.3275G>A (p.Trp1092Ter) c.3044G>A (p.Trp1015Ter) c.2945G>A (p.Trp982Ter) c.2126G>A (p.Trp709Ter) n.3677G>A | ClinVar |
13 | g.51941180A>C | CA388026586 | ATP7B | c.*1107T>G (n.*1107T>G) c.*2201T>G (n.*2201T>G) c.2836T>G (p.Trp946Gly) c.3457T>G (p.Trp1153Gly) c.3124T>G (p.Trp1042Gly) c.3205T>G (p.Trp1069Gly) c.3223T>G (p.Trp1075Gly) n.3596T>G n.3820T>G c.2392T>G (p.Trp798Gly) c.2167T>G (p.Trp723Gly) c.3262T>G (p.Trp1088Gly) c.1235T>G c.*558T>G (n.*558T>G) n.4201T>G n.2802T>G c.3313T>G (p.Trp1105Gly) c.3361T>G (p.Trp1121Gly) c.3421T>G (p.Trp1141Gly) c.2971T>G (p.Trp991Gly) c.1273T>G (p.Trp425Gly) c.1090T>G (p.Trp364Gly) c.3322T>G (p.Trp1108Gly) c.3274T>G (p.Trp1092Gly) c.3043T>G (p.Trp1015Gly) c.2944T>G (p.Trp982Gly) c.2125T>G (p.Trp709Gly) n.3676T>G | gnomAD v4 |
13 | g.51941180A>G | CA388026590 | ATP7B | c.*1107T>C (n.*1107T>C) c.*2201T>C (n.*2201T>C) c.2836T>C (p.Trp946Arg) c.3457T>C (p.Trp1153Arg) c.3124T>C (p.Trp1042Arg) c.3205T>C (p.Trp1069Arg) c.3223T>C (p.Trp1075Arg) n.3596T>C n.3820T>C c.2392T>C (p.Trp798Arg) c.2167T>C (p.Trp723Arg) c.3262T>C (p.Trp1088Arg) c.1235T>C c.*558T>C (n.*558T>C) n.4201T>C n.2802T>C c.3313T>C (p.Trp1105Arg) c.3361T>C (p.Trp1121Arg) c.3421T>C (p.Trp1141Arg) c.2971T>C (p.Trp991Arg) c.1273T>C (p.Trp425Arg) c.1090T>C (p.Trp364Arg) c.3322T>C (p.Trp1108Arg) c.3274T>C (p.Trp1092Arg) c.3043T>C (p.Trp1015Arg) c.2944T>C (p.Trp982Arg) c.2125T>C (p.Trp709Arg) n.3676T>C | |
13 | g.51941180A>T | CA388026592 | ATP7B | c.*1107T>A (n.*1107T>A) c.*2201T>A (n.*2201T>A) c.2836T>A (p.Trp946Arg) c.3457T>A (p.Trp1153Arg) c.3124T>A (p.Trp1042Arg) c.3205T>A (p.Trp1069Arg) c.3223T>A (p.Trp1075Arg) n.3596T>A n.3820T>A c.2392T>A (p.Trp798Arg) c.2167T>A (p.Trp723Arg) c.3262T>A (p.Trp1088Arg) c.1235T>A c.*558T>A (n.*558T>A) n.4201T>A n.2802T>A c.3313T>A (p.Trp1105Arg) c.3361T>A (p.Trp1121Arg) c.3421T>A (p.Trp1141Arg) c.2971T>A (p.Trp991Arg) c.1273T>A (p.Trp425Arg) c.1090T>A (p.Trp364Arg) c.3322T>A (p.Trp1108Arg) c.3274T>A (p.Trp1092Arg) c.3043T>A (p.Trp1015Arg) c.2944T>A (p.Trp982Arg) c.2125T>A (p.Trp709Arg) n.3676T>A | |
13 | g.51941181C>A | CA388026595 | ATP7B | c.*1106G>T (n.*1106G>T) c.*2200G>T (n.*2200G>T) c.2835G>T (p.Glu945Asp) c.3456G>T (p.Glu1152Asp) c.3123G>T (p.Glu1041Asp) c.3204G>T (p.Glu1068Asp) c.3222G>T (p.Glu1074Asp) n.3595G>T n.3819G>T c.2391G>T (p.Glu797Asp) c.2166G>T (p.Glu722Asp) c.3261G>T (p.Glu1087Asp) c.1234G>T c.*557G>T (n.*557G>T) n.4200G>T n.2801G>T c.3312G>T (p.Glu1104Asp) c.3360G>T (p.Glu1120Asp) c.3420G>T (p.Glu1140Asp) c.2970G>T (p.Glu990Asp) c.1272G>T (p.Glu424Asp) c.1089G>T (p.Glu363Asp) c.3321G>T (p.Glu1107Asp) c.3273G>T (p.Glu1091Asp) c.3042G>T (p.Glu1014Asp) c.2943G>T (p.Glu981Asp) c.2124G>T (p.Glu708Asp) n.3675G>T | |
13 | g.51941181C>G | CA388026600 | ATP7B | c.*1106G>C (n.*1106G>C) c.*2200G>C (n.*2200G>C) c.2835G>C (p.Glu945Asp) c.3456G>C (p.Glu1152Asp) c.3123G>C (p.Glu1041Asp) c.3204G>C (p.Glu1068Asp) c.3222G>C (p.Glu1074Asp) n.3595G>C n.3819G>C c.2391G>C (p.Glu797Asp) c.2166G>C (p.Glu722Asp) c.3261G>C (p.Glu1087Asp) c.1234G>C c.*557G>C (n.*557G>C) n.4200G>C n.2801G>C c.3312G>C (p.Glu1104Asp) c.3360G>C (p.Glu1120Asp) c.3420G>C (p.Glu1140Asp) c.2970G>C (p.Glu990Asp) c.1272G>C (p.Glu424Asp) c.1089G>C (p.Glu363Asp) c.3321G>C (p.Glu1107Asp) c.3273G>C (p.Glu1091Asp) c.3042G>C (p.Glu1014Asp) c.2943G>C (p.Glu981Asp) c.2124G>C (p.Glu708Asp) n.3675G>C | |
13 | g.51941181C>T | CA483894091 | ATP7B | c.*1106G>A (n.*1106G>A) c.*2200G>A (n.*2200G>A) c.2835G>A (p.Glu945=) c.3456G>A (p.Glu1152=) c.3123G>A (p.Glu1041=) c.3204G>A (p.Glu1068=) c.3222G>A (p.Glu1074=) n.3595G>A n.3819G>A c.2391G>A (p.Glu797=) c.2166G>A (p.Glu722=) c.3261G>A (p.Glu1087=) c.1234G>A c.*557G>A (n.*557G>A) n.4200G>A n.2801G>A c.3312G>A (p.Glu1104=) c.3360G>A (p.Glu1120=) c.3420G>A (p.Glu1140=) c.2970G>A (p.Glu990=) c.1272G>A (p.Glu424=) c.1089G>A (p.Glu363=) c.3321G>A (p.Glu1107=) c.3273G>A (p.Glu1091=) c.3042G>A (p.Glu1014=) c.2943G>A (p.Glu981=) c.2124G>A (p.Glu708=) n.3675G>A | ClinVar dbSNP |
13 | g.51941182T>A | CA388026603 | ATP7B | c.*1105A>T (n.*1105A>T) c.*2199A>T (n.*2199A>T) c.2834A>T (p.Glu945Val) c.3455A>T (p.Glu1152Val) c.3122A>T (p.Glu1041Val) c.3203A>T (p.Glu1068Val) c.3221A>T (p.Glu1074Val) n.3594A>T n.3818A>T c.2390A>T (p.Glu797Val) c.2165A>T (p.Glu722Val) c.3260A>T (p.Glu1087Val) c.1233A>T c.*556A>T (n.*556A>T) n.4199A>T n.2800A>T c.3311A>T (p.Glu1104Val) c.3359A>T (p.Glu1120Val) c.3419A>T (p.Glu1140Val) c.2969A>T (p.Glu990Val) c.1271A>T (p.Glu424Val) c.1088A>T (p.Glu363Val) c.3320A>T (p.Glu1107Val) c.3272A>T (p.Glu1091Val) c.3041A>T (p.Glu1014Val) c.2942A>T (p.Glu981Val) c.2123A>T (p.Glu708Val) n.3674A>T | |
13 | g.51941182T>C | CA388026604 | ATP7B | c.*1105A>G (n.*1105A>G) c.*2199A>G (n.*2199A>G) c.2834A>G (p.Glu945Gly) c.3455A>G (p.Glu1152Gly) c.3122A>G (p.Glu1041Gly) c.3203A>G (p.Glu1068Gly) c.3221A>G (p.Glu1074Gly) n.3594A>G n.3818A>G c.2390A>G (p.Glu797Gly) c.2165A>G (p.Glu722Gly) c.3260A>G (p.Glu1087Gly) c.1233A>G c.*556A>G (n.*556A>G) n.4199A>G n.2800A>G c.3311A>G (p.Glu1104Gly) c.3359A>G (p.Glu1120Gly) c.3419A>G (p.Glu1140Gly) c.2969A>G (p.Glu990Gly) c.1271A>G (p.Glu424Gly) c.1088A>G (p.Glu363Gly) c.3320A>G (p.Glu1107Gly) c.3272A>G (p.Glu1091Gly) c.3041A>G (p.Glu1014Gly) c.2942A>G (p.Glu981Gly) c.2123A>G (p.Glu708Gly) n.3674A>G | |
13 | g.51941182T>G | CA388026605 | ATP7B | c.*1105A>C (n.*1105A>C) c.*2199A>C (n.*2199A>C) c.2834A>C (p.Glu945Ala) c.3455A>C (p.Glu1152Ala) c.3122A>C (p.Glu1041Ala) c.3203A>C (p.Glu1068Ala) c.3221A>C (p.Glu1074Ala) n.3594A>C n.3818A>C c.2390A>C (p.Glu797Ala) c.2165A>C (p.Glu722Ala) c.3260A>C (p.Glu1087Ala) c.1233A>C c.*556A>C (n.*556A>C) n.4199A>C n.2800A>C c.3311A>C (p.Glu1104Ala) c.3359A>C (p.Glu1120Ala) c.3419A>C (p.Glu1140Ala) c.2969A>C (p.Glu990Ala) c.1271A>C (p.Glu424Ala) c.1088A>C (p.Glu363Ala) c.3320A>C (p.Glu1107Ala) c.3272A>C (p.Glu1091Ala) c.3041A>C (p.Glu1014Ala) c.2942A>C (p.Glu981Ala) c.2123A>C (p.Glu708Ala) n.3674A>C | dbSNP |
13 | g.51941182T= | CA2091559531 | ATP7B | c.*1105A= (n.*1105A=) c.*2199A= (n.*2199A=) c.2834A= (p.Glu945=) c.3455A= (p.Glu1152=) c.3122A= (p.Glu1041=) c.3203A= (p.Glu1068=) c.3221A= (p.Glu1074=) n.3594A= n.3818A= c.2390A= (p.Glu797=) c.2165A= (p.Glu722=) c.3260A= (p.Glu1087=) c.1233A= c.*556A= (n.*556A=) n.4199A= n.2800A= c.3311A= (p.Glu1104=) c.3359A= (p.Glu1120=) c.3419A= (p.Glu1140=) c.2969A= (p.Glu990=) c.1271A= (p.Glu424=) c.1088A= (p.Glu363=) c.3320A= (p.Glu1107=) c.3272A= (p.Glu1091=) c.3041A= (p.Glu1014=) c.2942A= (p.Glu981=) c.2123A= (p.Glu708=) n.3674A= | |
13 | g.51941183C>A | CA388026606 | ATP7B | c.*1104G>T (n.*1104G>T) c.*2198G>T (n.*2198G>T) c.2833G>T (p.Glu945Ter) c.3454G>T (p.Glu1152Ter) c.3121G>T (p.Glu1041Ter) c.3202G>T (p.Glu1068Ter) c.3220G>T (p.Glu1074Ter) n.3593G>T n.3817G>T c.2389G>T (p.Glu797Ter) c.2164G>T (p.Glu722Ter) c.3259G>T (p.Glu1087Ter) c.1232G>T c.*555G>T (n.*555G>T) n.4198G>T n.2799G>T c.3310G>T (p.Glu1104Ter) c.3358G>T (p.Glu1120Ter) c.3418G>T (p.Glu1140Ter) c.2968G>T (p.Glu990Ter) c.1270G>T (p.Glu424Ter) c.1087G>T (p.Glu363Ter) c.3319G>T (p.Glu1107Ter) c.3271G>T (p.Glu1091Ter) c.3040G>T (p.Glu1014Ter) c.2941G>T (p.Glu981Ter) c.2122G>T (p.Glu708Ter) n.3673G>T | |
13 | g.51941183C>G | CA388026607 | ATP7B | c.*1104G>C (n.*1104G>C) c.*2198G>C (n.*2198G>C) c.2833G>C (p.Glu945Gln) c.3454G>C (p.Glu1152Gln) c.3121G>C (p.Glu1041Gln) c.3202G>C (p.Glu1068Gln) c.3220G>C (p.Glu1074Gln) n.3593G>C n.3817G>C c.2389G>C (p.Glu797Gln) c.2164G>C (p.Glu722Gln) c.3259G>C (p.Glu1087Gln) c.1232G>C c.*555G>C (n.*555G>C) n.4198G>C n.2799G>C c.3310G>C (p.Glu1104Gln) c.3358G>C (p.Glu1120Gln) c.3418G>C (p.Glu1140Gln) c.2968G>C (p.Glu990Gln) c.1270G>C (p.Glu424Gln) c.1087G>C (p.Glu363Gln) c.3319G>C (p.Glu1107Gln) c.3271G>C (p.Glu1091Gln) c.3040G>C (p.Glu1014Gln) c.2941G>C (p.Glu981Gln) c.2122G>C (p.Glu708Gln) n.3673G>C | |
13 | g.51941183C>T | CA388026608 | ATP7B | c.*1104G>A (n.*1104G>A) c.*2198G>A (n.*2198G>A) c.2833G>A (p.Glu945Lys) c.3454G>A (p.Glu1152Lys) c.3121G>A (p.Glu1041Lys) c.3202G>A (p.Glu1068Lys) c.3220G>A (p.Glu1074Lys) n.3593G>A n.3817G>A c.2389G>A (p.Glu797Lys) c.2164G>A (p.Glu722Lys) c.3259G>A (p.Glu1087Lys) c.1232G>A c.*555G>A (n.*555G>A) n.4198G>A n.2799G>A c.3310G>A (p.Glu1104Lys) c.3358G>A (p.Glu1120Lys) c.3418G>A (p.Glu1140Lys) c.2968G>A (p.Glu990Lys) c.1270G>A (p.Glu424Lys) c.1087G>A (p.Glu363Lys) c.3319G>A (p.Glu1107Lys) c.3271G>A (p.Glu1091Lys) c.3040G>A (p.Glu1014Lys) c.2941G>A (p.Glu981Lys) c.2122G>A (p.Glu708Lys) n.3673G>A | ClinVar |
13 | g.51941184A>C | CA483894100 | ATP7B | c.*1103T>G (n.*1103T>G) c.*2197T>G (n.*2197T>G) c.2832T>G (p.Arg944=) c.3453T>G (p.Arg1151=) c.3120T>G (p.Arg1040=) c.3201T>G (p.Arg1067=) c.3219T>G (p.Arg1073=) n.3592T>G n.3816T>G c.2388T>G (p.Arg796=) c.2163T>G (p.Arg721=) c.3258T>G (p.Arg1086=) c.1231T>G c.*554T>G (n.*554T>G) n.4197T>G n.2798T>G c.3309T>G (p.Arg1103=) c.3357T>G (p.Arg1119=) c.3417T>G (p.Arg1139=) c.2967T>G (p.Arg989=) c.1269T>G (p.Arg423=) c.1086T>G (p.Arg362=) c.3318T>G (p.Arg1106=) c.3270T>G (p.Arg1090=) c.3039T>G (p.Arg1013=) c.2940T>G (p.Arg980=) c.2121T>G (p.Arg707=) n.3672T>G | ClinVar gnomAD v4 |
13 | g.51941184A>G | CA483894102 | ATP7B | c.*1103T>C (n.*1103T>C) c.*2197T>C (n.*2197T>C) c.2832T>C (p.Arg944=) c.3453T>C (p.Arg1151=) c.3120T>C (p.Arg1040=) c.3201T>C (p.Arg1067=) c.3219T>C (p.Arg1073=) n.3592T>C n.3816T>C c.2388T>C (p.Arg796=) c.2163T>C (p.Arg721=) c.3258T>C (p.Arg1086=) c.1231T>C c.*554T>C (n.*554T>C) n.4197T>C n.2798T>C c.3309T>C (p.Arg1103=) c.3357T>C (p.Arg1119=) c.3417T>C (p.Arg1139=) c.2967T>C (p.Arg989=) c.1269T>C (p.Arg423=) c.1086T>C (p.Arg362=) c.3318T>C (p.Arg1106=) c.3270T>C (p.Arg1090=) c.3039T>C (p.Arg1013=) c.2940T>C (p.Arg980=) c.2121T>C (p.Arg707=) n.3672T>C | |
13 | g.51941184A>T | CA483894103 | ATP7B | c.*1103T>A (n.*1103T>A) c.*2197T>A (n.*2197T>A) c.2832T>A (p.Arg944=) c.3453T>A (p.Arg1151=) c.3120T>A (p.Arg1040=) c.3201T>A (p.Arg1067=) c.3219T>A (p.Arg1073=) n.3592T>A n.3816T>A c.2388T>A (p.Arg796=) c.2163T>A (p.Arg721=) c.3258T>A (p.Arg1086=) c.1231T>A c.*554T>A (n.*554T>A) n.4197T>A n.2798T>A c.3309T>A (p.Arg1103=) c.3357T>A (p.Arg1119=) c.3417T>A (p.Arg1139=) c.2967T>A (p.Arg989=) c.1269T>A (p.Arg423=) c.1086T>A (p.Arg362=) c.3318T>A (p.Arg1106=) c.3270T>A (p.Arg1090=) c.3039T>A (p.Arg1013=) c.2940T>A (p.Arg980=) c.2121T>A (p.Arg707=) n.3672T>A | |
13 | g.51941185C>A | CA388026610 | ATP7B | c.*1102G>T (n.*1102G>T) c.*2196G>T (n.*2196G>T) c.2831G>T (p.Arg944Leu) c.3452G>T (p.Arg1151Leu) c.3119G>T (p.Arg1040Leu) c.3200G>T (p.Arg1067Leu) c.3218G>T (p.Arg1073Leu) n.3591G>T n.3815G>T c.2387G>T (p.Arg796Leu) c.2162G>T (p.Arg721Leu) c.3257G>T (p.Arg1086Leu) c.1230G>T c.*553G>T (n.*553G>T) n.4196G>T n.2797G>T c.3308G>T (p.Arg1103Leu) c.3356G>T (p.Arg1119Leu) c.3416G>T (p.Arg1139Leu) c.2966G>T (p.Arg989Leu) c.1268G>T (p.Arg423Leu) c.1085G>T (p.Arg362Leu) c.3317G>T (p.Arg1106Leu) c.3269G>T (p.Arg1090Leu) c.3038G>T (p.Arg1013Leu) c.2939G>T (p.Arg980Leu) c.2120G>T (p.Arg707Leu) n.3671G>T | |
13 | g.51941185C= | CA2091559534 | ATP7B | c.*1102G= (n.*1102G=) c.*2196G= (n.*2196G=) c.2831G= (p.Arg944=) c.3452G= (p.Arg1151=) c.3119G= (p.Arg1040=) c.3200G= (p.Arg1067=) c.3218G= (p.Arg1073=) n.3591G= n.3815G= c.2387G= (p.Arg796=) c.2162G= (p.Arg721=) c.3257G= (p.Arg1086=) c.1230G= c.*553G= (n.*553G=) n.4196G= n.2797G= c.3308G= (p.Arg1103=) c.3356G= (p.Arg1119=) c.3416G= (p.Arg1139=) c.2966G= (p.Arg989=) c.1268G= (p.Arg423=) c.1085G= (p.Arg362=) c.3317G= (p.Arg1106=) c.3269G= (p.Arg1090=) c.3038G= (p.Arg1013=) c.2939G= (p.Arg980=) c.2120G= (p.Arg707=) n.3671G= | |
13 | g.51941185C>G | CA388026612 | ATP7B | c.*1102G>C (n.*1102G>C) c.*2196G>C (n.*2196G>C) c.2831G>C (p.Arg944Pro) c.3452G>C (p.Arg1151Pro) c.3119G>C (p.Arg1040Pro) c.3200G>C (p.Arg1067Pro) c.3218G>C (p.Arg1073Pro) n.3591G>C n.3815G>C c.2387G>C (p.Arg796Pro) c.2162G>C (p.Arg721Pro) c.3257G>C (p.Arg1086Pro) c.1230G>C c.*553G>C (n.*553G>C) n.4196G>C n.2797G>C c.3308G>C (p.Arg1103Pro) c.3356G>C (p.Arg1119Pro) c.3416G>C (p.Arg1139Pro) c.2966G>C (p.Arg989Pro) c.1268G>C (p.Arg423Pro) c.1085G>C (p.Arg362Pro) c.3317G>C (p.Arg1106Pro) c.3269G>C (p.Arg1090Pro) c.3038G>C (p.Arg1013Pro) c.2939G>C (p.Arg980Pro) c.2120G>C (p.Arg707Pro) n.3671G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51941185C>T | CA6988682 | ATP7B | c.*1102G>A (n.*1102G>A) c.*2196G>A (n.*2196G>A) c.2831G>A (p.Arg944His) c.3452G>A (p.Arg1151His) c.3119G>A (p.Arg1040His) c.3200G>A (p.Arg1067His) c.3218G>A (p.Arg1073His) n.3591G>A n.3815G>A c.2387G>A (p.Arg796His) c.2162G>A (p.Arg721His) c.3257G>A (p.Arg1086His) c.1230G>A c.*553G>A (n.*553G>A) n.4196G>A n.2797G>A c.3308G>A (p.Arg1103His) c.3356G>A (p.Arg1119His) c.3416G>A (p.Arg1139His) c.2966G>A (p.Arg989His) c.1268G>A (p.Arg423His) c.1085G>A (p.Arg362His) c.3317G>A (p.Arg1106His) c.3269G>A (p.Arg1090His) c.3038G>A (p.Arg1013His) c.2939G>A (p.Arg980His) c.2120G>A (p.Arg707His) n.3671G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
13 | g.51941186G>A | CA274020 | ATP7B | c.*1101C>T (n.*1101C>T) c.*2195C>T (n.*2195C>T) c.2830C>T (p.Arg944Cys) c.3451C>T (p.Arg1151Cys) c.3118C>T (p.Arg1040Cys) c.3199C>T (p.Arg1067Cys) c.3217C>T (p.Arg1073Cys) n.3590C>T n.3814C>T c.2386C>T (p.Arg796Cys) c.2161C>T (p.Arg721Cys) c.3256C>T (p.Arg1086Cys) c.1229C>T c.*552C>T (n.*552C>T) n.4195C>T n.2796C>T c.3307C>T (p.Arg1103Cys) c.3355C>T (p.Arg1119Cys) c.3415C>T (p.Arg1139Cys) c.2965C>T (p.Arg989Cys) c.1267C>T (p.Arg423Cys) c.1084C>T (p.Arg362Cys) c.3316C>T (p.Arg1106Cys) c.3268C>T (p.Arg1090Cys) c.3037C>T (p.Arg1013Cys) c.2938C>T (p.Arg980Cys) c.2119C>T (p.Arg707Cys) n.3670C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.51941186G>C | CA388026626 | ATP7B | c.*1101C>G (n.*1101C>G) c.*2195C>G (n.*2195C>G) c.2830C>G (p.Arg944Gly) c.3451C>G (p.Arg1151Gly) c.3118C>G (p.Arg1040Gly) c.3199C>G (p.Arg1067Gly) c.3217C>G (p.Arg1073Gly) n.3590C>G n.3814C>G c.2386C>G (p.Arg796Gly) c.2161C>G (p.Arg721Gly) c.3256C>G (p.Arg1086Gly) c.1229C>G c.*552C>G (n.*552C>G) n.4195C>G n.2796C>G c.3307C>G (p.Arg1103Gly) c.3355C>G (p.Arg1119Gly) c.3415C>G (p.Arg1139Gly) c.2965C>G (p.Arg989Gly) c.1267C>G (p.Arg423Gly) c.1084C>G (p.Arg362Gly) c.3316C>G (p.Arg1106Gly) c.3268C>G (p.Arg1090Gly) c.3037C>G (p.Arg1013Gly) c.2938C>G (p.Arg980Gly) c.2119C>G (p.Arg707Gly) n.3670C>G | ClinVar dbSNP |
13 | g.51941186G= | CA2091559539 | ATP7B | c.*1101C= (n.*1101C=) c.*2195C= (n.*2195C=) c.2830C= (p.Arg944=) c.3451C= (p.Arg1151=) c.3118C= (p.Arg1040=) c.3199C= (p.Arg1067=) c.3217C= (p.Arg1073=) n.3590C= n.3814C= c.2386C= (p.Arg796=) c.2161C= (p.Arg721=) c.3256C= (p.Arg1086=) c.1229C= c.*552C= (n.*552C=) n.4195C= n.2796C= c.3307C= (p.Arg1103=) c.3355C= (p.Arg1119=) c.3415C= (p.Arg1139=) c.2965C= (p.Arg989=) c.1267C= (p.Arg423=) c.1084C= (p.Arg362=) c.3316C= (p.Arg1106=) c.3268C= (p.Arg1090=) c.3037C= (p.Arg1013=) c.2938C= (p.Arg980=) c.2119C= (p.Arg707=) n.3670C= | |
13 | g.51941186G>T | CA388026620 | ATP7B | c.*1101C>A (n.*1101C>A) c.*2195C>A (n.*2195C>A) c.2830C>A (p.Arg944Ser) c.3451C>A (p.Arg1151Ser) c.3118C>A (p.Arg1040Ser) c.3199C>A (p.Arg1067Ser) c.3217C>A (p.Arg1073Ser) n.3590C>A n.3814C>A c.2386C>A (p.Arg796Ser) c.2161C>A (p.Arg721Ser) c.3256C>A (p.Arg1086Ser) c.1229C>A c.*552C>A (n.*552C>A) n.4195C>A n.2796C>A c.3307C>A (p.Arg1103Ser) c.3355C>A (p.Arg1119Ser) c.3415C>A (p.Arg1139Ser) c.2965C>A (p.Arg989Ser) c.1267C>A (p.Arg423Ser) c.1084C>A (p.Arg362Ser) c.3316C>A (p.Arg1106Ser) c.3268C>A (p.Arg1090Ser) c.3037C>A (p.Arg1013Ser) c.2938C>A (p.Arg980Ser) c.2119C>A (p.Arg707Ser) n.3670C>A | |
13 | g.51941187G>A | CA483894111 | ATP7B | c.*1100C>T (n.*1100C>T) c.*2194C>T (n.*2194C>T) c.2829C>T (p.Asn943=) c.3450C>T (p.Asn1150=) c.3117C>T (p.Asn1039=) c.3198C>T (p.Asn1066=) c.3216C>T (p.Asn1072=) n.3589C>T n.3813C>T c.2385C>T (p.Asn795=) c.2160C>T (p.Asn720=) c.3255C>T (p.Asn1085=) c.1228C>T c.*551C>T (n.*551C>T) n.4194C>T n.2795C>T c.3306C>T (p.Asn1102=) c.3354C>T (p.Asn1118=) c.3414C>T (p.Asn1138=) c.2964C>T (p.Asn988=) c.1266C>T (p.Asn422=) c.1083C>T (p.Asn361=) c.3315C>T (p.Asn1105=) c.3267C>T (p.Asn1089=) c.3036C>T (p.Asn1012=) c.2937C>T (p.Asn979=) c.2118C>T (p.Asn706=) n.3669C>T | COSMIC |
13 | g.51941187G>C | CA388026629 | ATP7B | c.*1100C>G (n.*1100C>G) c.*2194C>G (n.*2194C>G) c.2829C>G (p.Asn943Lys) c.3450C>G (p.Asn1150Lys) c.3117C>G (p.Asn1039Lys) c.3198C>G (p.Asn1066Lys) c.3216C>G (p.Asn1072Lys) n.3589C>G n.3813C>G c.2385C>G (p.Asn795Lys) c.2160C>G (p.Asn720Lys) c.3255C>G (p.Asn1085Lys) c.1228C>G c.*551C>G (n.*551C>G) n.4194C>G n.2795C>G c.3306C>G (p.Asn1102Lys) c.3354C>G (p.Asn1118Lys) c.3414C>G (p.Asn1138Lys) c.2964C>G (p.Asn988Lys) c.1266C>G (p.Asn422Lys) c.1083C>G (p.Asn361Lys) c.3315C>G (p.Asn1105Lys) c.3267C>G (p.Asn1089Lys) c.3036C>G (p.Asn1012Lys) c.2937C>G (p.Asn979Lys) c.2118C>G (p.Asn706Lys) n.3669C>G | |
13 | g.51941187G>T | CA388026632 | ATP7B | c.*1100C>A (n.*1100C>A) c.*2194C>A (n.*2194C>A) c.2829C>A (p.Asn943Lys) c.3450C>A (p.Asn1150Lys) c.3117C>A (p.Asn1039Lys) c.3198C>A (p.Asn1066Lys) c.3216C>A (p.Asn1072Lys) n.3589C>A n.3813C>A c.2385C>A (p.Asn795Lys) c.2160C>A (p.Asn720Lys) c.3255C>A (p.Asn1085Lys) c.1228C>A c.*551C>A (n.*551C>A) n.4194C>A n.2795C>A c.3306C>A (p.Asn1102Lys) c.3354C>A (p.Asn1118Lys) c.3414C>A (p.Asn1138Lys) c.2964C>A (p.Asn988Lys) c.1266C>A (p.Asn422Lys) c.1083C>A (p.Asn361Lys) c.3315C>A (p.Asn1105Lys) c.3267C>A (p.Asn1089Lys) c.3036C>A (p.Asn1012Lys) c.2937C>A (p.Asn979Lys) c.2118C>A (p.Asn706Lys) n.3669C>A | |
13 | g.51941187_51941188delinsGT | CA2091559545 | ATP7B | c.*1099_*1100delinsAC (n.*1099_*1100delinsAC) c.*2193_*2194delinsAC (n.*2193_*2194delinsAC) c.2828_2829delinsAC (p.Asn943=) c.3449_3450delinsAC (p.Asn1150=) c.3116_3117delinsAC (p.Asn1039=) c.3197_3198delinsAC (p.Asn1066=) c.3215_3216delinsAC (p.Asn1072=) n.3588_3589delinsAC n.3812_3813delinsAC c.2384_2385delinsAC (p.Asn795=) c.2159_2160delinsAC (p.Asn720=) c.3254_3255delinsAC (p.Asn1085=) c.1227_1228delinsAC c.*550_*551delinsAC (n.*550_*551delinsAC) n.4193_4194delinsAC n.2794_2795delinsAC c.3305_3306delinsAC (p.Asn1102=) c.3353_3354delinsAC (p.Asn1118=) c.3413_3414delinsAC (p.Asn1138=) c.2963_2964delinsAC (p.Asn988=) c.1265_1266delinsAC (p.Asn422=) c.1082_1083delinsAC (p.Asn361=) c.3314_3315delinsAC (p.Asn1105=) c.3266_3267delinsAC (p.Asn1089=) c.3035_3036delinsAC (p.Asn1012=) c.2936_2937delinsAC (p.Asn979=) c.2117_2118delinsAC (p.Asn706=) n.3668_3669delinsAC | |
13 | g.51941188T>A | CA388026644 | ATP7B | c.*1099A>T (n.*1099A>T) c.*2193A>T (n.*2193A>T) c.2828A>T (p.Asn943Ile) c.3449A>T (p.Asn1150Ile) c.3116A>T (p.Asn1039Ile) c.3197A>T (p.Asn1066Ile) c.3215A>T (p.Asn1072Ile) n.3588A>T n.3812A>T c.2384A>T (p.Asn795Ile) c.2159A>T (p.Asn720Ile) c.3254A>T (p.Asn1085Ile) c.1227A>T c.*550A>T (n.*550A>T) n.4193A>T n.2794A>T c.3305A>T (p.Asn1102Ile) c.3353A>T (p.Asn1118Ile) c.3413A>T (p.Asn1138Ile) c.2963A>T (p.Asn988Ile) c.1265A>T (p.Asn422Ile) c.1082A>T (p.Asn361Ile) c.3314A>T (p.Asn1105Ile) c.3266A>T (p.Asn1089Ile) c.3035A>T (p.Asn1012Ile) c.2936A>T (p.Asn979Ile) c.2117A>T (p.Asn706Ile) n.3668A>T | gnomAD v4 |
13 | g.51941188T>C | CA388026647 | ATP7B | c.*1099A>G (n.*1099A>G) c.*2193A>G (n.*2193A>G) c.2828A>G (p.Asn943Ser) c.3449A>G (p.Asn1150Ser) c.3116A>G (p.Asn1039Ser) c.3197A>G (p.Asn1066Ser) c.3215A>G (p.Asn1072Ser) n.3588A>G n.3812A>G c.2384A>G (p.Asn795Ser) c.2159A>G (p.Asn720Ser) c.3254A>G (p.Asn1085Ser) c.1227A>G c.*550A>G (n.*550A>G) n.4193A>G n.2794A>G c.3305A>G (p.Asn1102Ser) c.3353A>G (p.Asn1118Ser) c.3413A>G (p.Asn1138Ser) c.2963A>G (p.Asn988Ser) c.1265A>G (p.Asn422Ser) c.1082A>G (p.Asn361Ser) c.3314A>G (p.Asn1105Ser) c.3266A>G (p.Asn1089Ser) c.3035A>G (p.Asn1012Ser) c.2936A>G (p.Asn979Ser) c.2117A>G (p.Asn706Ser) n.3668A>G | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51941188T>G | CA388026651 | ATP7B | c.*1099A>C (n.*1099A>C) c.*2193A>C (n.*2193A>C) c.2828A>C (p.Asn943Thr) c.3449A>C (p.Asn1150Thr) c.3116A>C (p.Asn1039Thr) c.3197A>C (p.Asn1066Thr) c.3215A>C (p.Asn1072Thr) n.3588A>C n.3812A>C c.2384A>C (p.Asn795Thr) c.2159A>C (p.Asn720Thr) c.3254A>C (p.Asn1085Thr) c.1227A>C c.*550A>C (n.*550A>C) n.4193A>C n.2794A>C c.3305A>C (p.Asn1102Thr) c.3353A>C (p.Asn1118Thr) c.3413A>C (p.Asn1138Thr) c.2963A>C (p.Asn988Thr) c.1265A>C (p.Asn422Thr) c.1082A>C (p.Asn361Thr) c.3314A>C (p.Asn1105Thr) c.3266A>C (p.Asn1089Thr) c.3035A>C (p.Asn1012Thr) c.2936A>C (p.Asn979Thr) c.2117A>C (p.Asn706Thr) n.3668A>C | |
13 | g.51941188T= | CA2091559557 | ATP7B | c.*1099A= (n.*1099A=) c.*2193A= (n.*2193A=) c.2828A= (p.Asn943=) c.3449A= (p.Asn1150=) c.3116A= (p.Asn1039=) c.3197A= (p.Asn1066=) c.3215A= (p.Asn1072=) n.3588A= n.3812A= c.2384A= (p.Asn795=) c.2159A= (p.Asn720=) c.3254A= (p.Asn1085=) c.1227A= c.*550A= (n.*550A=) n.4193A= n.2794A= c.3305A= (p.Asn1102=) c.3353A= (p.Asn1118=) c.3413A= (p.Asn1138=) c.2963A= (p.Asn988=) c.1265A= (p.Asn422=) c.1082A= (p.Asn361=) c.3314A= (p.Asn1105=) c.3266A= (p.Asn1089=) c.3035A= (p.Asn1012=) c.2936A= (p.Asn979=) c.2117A= (p.Asn706=) n.3668A= | |
13 | g.51941190del | CA658798148 | ATP7B | c.*1099del (n.*1099del) c.*2193del (n.*2193del) c.2828del (p.Asn943ThrfsTer5) c.3449del (p.Asn1150ThrfsTer5) c.3116del (p.Asn1039ThrfsTer5) c.3197del (p.Asn1066ThrfsTer5) c.3215del (p.Asn1072ThrfsTer5) n.3588del n.3812del c.2384del (p.Asn795ThrfsTer5) c.2159del (p.Asn720ThrfsTer5) c.3254del (p.Asn1085ThrfsTer5) c.1227del c.*550del (n.*550del) n.4193del n.2794del c.3305del (p.Asn1102ThrfsTer5) c.3353del (p.Asn1118ThrfsTer5) c.3413del (p.Asn1138ThrfsTer5) c.2963del (p.Asn988ThrfsTer5) c.1265del (p.Asn422ThrfsTer5) c.1082del (p.Asn361ThrfsTer5) c.3314del (p.Asn1105ThrfsTer5) c.3266del (p.Asn1089ThrfsTer5) c.3035del (p.Asn1012ThrfsTer5) c.2936del (p.Asn979ThrfsTer5) c.2117del (p.Asn706ThrfsTer5) n.3668del | ClinVar dbSNP gnomAD v4 |
13 | g.51941189T>A | CA388026654 | ATP7B | c.*1098A>T (n.*1098A>T) c.*2192A>T (n.*2192A>T) c.2827A>T (p.Asn943Tyr) c.3448A>T (p.Asn1150Tyr) c.3115A>T (p.Asn1039Tyr) c.3196A>T (p.Asn1066Tyr) c.3214A>T (p.Asn1072Tyr) n.3587A>T n.3811A>T c.2383A>T (p.Asn795Tyr) c.2158A>T (p.Asn720Tyr) c.3253A>T (p.Asn1085Tyr) c.1226A>T c.*549A>T (n.*549A>T) n.4192A>T n.2793A>T c.3304A>T (p.Asn1102Tyr) c.3352A>T (p.Asn1118Tyr) c.3412A>T (p.Asn1138Tyr) c.2962A>T (p.Asn988Tyr) c.1264A>T (p.Asn422Tyr) c.1081A>T (p.Asn361Tyr) c.3313A>T (p.Asn1105Tyr) c.3265A>T (p.Asn1089Tyr) c.3034A>T (p.Asn1012Tyr) c.2935A>T (p.Asn979Tyr) c.2116A>T (p.Asn706Tyr) n.3667A>T | |
13 | g.51941189T>C | CA388026658 | ATP7B | c.*1098A>G (n.*1098A>G) c.*2192A>G (n.*2192A>G) c.2827A>G (p.Asn943Asp) c.3448A>G (p.Asn1150Asp) c.3115A>G (p.Asn1039Asp) c.3196A>G (p.Asn1066Asp) c.3214A>G (p.Asn1072Asp) n.3587A>G n.3811A>G c.2383A>G (p.Asn795Asp) c.2158A>G (p.Asn720Asp) c.3253A>G (p.Asn1085Asp) c.1226A>G c.*549A>G (n.*549A>G) n.4192A>G n.2793A>G c.3304A>G (p.Asn1102Asp) c.3352A>G (p.Asn1118Asp) c.3412A>G (p.Asn1138Asp) c.2962A>G (p.Asn988Asp) c.1264A>G (p.Asn422Asp) c.1081A>G (p.Asn361Asp) c.3313A>G (p.Asn1105Asp) c.3265A>G (p.Asn1089Asp) c.3034A>G (p.Asn1012Asp) c.2935A>G (p.Asn979Asp) c.2116A>G (p.Asn706Asp) n.3667A>G | |
13 | g.51941189T>G | CA388026659 | ATP7B | c.*1098A>C (n.*1098A>C) c.*2192A>C (n.*2192A>C) c.2827A>C (p.Asn943His) c.3448A>C (p.Asn1150His) c.3115A>C (p.Asn1039His) c.3196A>C (p.Asn1066His) c.3214A>C (p.Asn1072His) n.3587A>C n.3811A>C c.2383A>C (p.Asn795His) c.2158A>C (p.Asn720His) c.3253A>C (p.Asn1085His) c.1226A>C c.*549A>C (n.*549A>C) n.4192A>C n.2793A>C c.3304A>C (p.Asn1102His) c.3352A>C (p.Asn1118His) c.3412A>C (p.Asn1138His) c.2962A>C (p.Asn988His) c.1264A>C (p.Asn422His) c.1081A>C (p.Asn361His) c.3313A>C (p.Asn1105His) c.3265A>C (p.Asn1089His) c.3034A>C (p.Asn1012His) c.2935A>C (p.Asn979His) c.2116A>C (p.Asn706His) n.3667A>C | |
13 | g.51941190T>A | CA483894120 | ATP7B | c.*1097A>T (n.*1097A>T) c.*2191A>T (n.*2191A>T) c.2826A>T (p.Gly942=) c.3447A>T (p.Gly1149=) c.3114A>T (p.Gly1038=) c.3195A>T (p.Gly1065=) c.3213A>T (p.Gly1071=) n.3586A>T n.3810A>T c.2382A>T (p.Gly794=) c.2157A>T (p.Gly719=) c.3252A>T (p.Gly1084=) c.1225A>T c.*548A>T (n.*548A>T) n.4191A>T n.2792A>T c.3303A>T (p.Gly1101=) c.3351A>T (p.Gly1117=) c.3411A>T (p.Gly1137=) c.2961A>T (p.Gly987=) c.1263A>T (p.Gly421=) c.1080A>T (p.Gly360=) c.3312A>T (p.Gly1104=) c.3264A>T (p.Gly1088=) c.3033A>T (p.Gly1011=) c.2934A>T (p.Gly978=) c.2115A>T (p.Gly705=) n.3666A>T | |
13 | g.51941190T>C | CA483894122 | ATP7B | c.*1097A>G (n.*1097A>G) c.*2191A>G (n.*2191A>G) c.2826A>G (p.Gly942=) c.3447A>G (p.Gly1149=) c.3114A>G (p.Gly1038=) c.3195A>G (p.Gly1065=) c.3213A>G (p.Gly1071=) n.3586A>G n.3810A>G c.2382A>G (p.Gly794=) c.2157A>G (p.Gly719=) c.3252A>G (p.Gly1084=) c.1225A>G c.*548A>G (n.*548A>G) n.4191A>G n.2792A>G c.3303A>G (p.Gly1101=) c.3351A>G (p.Gly1117=) c.3411A>G (p.Gly1137=) c.2961A>G (p.Gly987=) c.1263A>G (p.Gly421=) c.1080A>G (p.Gly360=) c.3312A>G (p.Gly1104=) c.3264A>G (p.Gly1088=) c.3033A>G (p.Gly1011=) c.2934A>G (p.Gly978=) c.2115A>G (p.Gly705=) n.3666A>G | gnomAD v4 |
13 | g.51941190T>G | CA483894124 | ATP7B | c.*1097A>C (n.*1097A>C) c.*2191A>C (n.*2191A>C) c.2826A>C (p.Gly942=) c.3447A>C (p.Gly1149=) c.3114A>C (p.Gly1038=) c.3195A>C (p.Gly1065=) c.3213A>C (p.Gly1071=) n.3586A>C n.3810A>C c.2382A>C (p.Gly794=) c.2157A>C (p.Gly719=) c.3252A>C (p.Gly1084=) c.1225A>C c.*548A>C (n.*548A>C) n.4191A>C n.2792A>C c.3303A>C (p.Gly1101=) c.3351A>C (p.Gly1117=) c.3411A>C (p.Gly1137=) c.2961A>C (p.Gly987=) c.1263A>C (p.Gly421=) c.1080A>C (p.Gly360=) c.3312A>C (p.Gly1104=) c.3264A>C (p.Gly1088=) c.3033A>C (p.Gly1011=) c.2934A>C (p.Gly978=) c.2115A>C (p.Gly705=) n.3666A>C | |
13 | g.51941191C>A | CA388026662 | ATP7B | c.*1096G>T (n.*1096G>T) c.*2190G>T (n.*2190G>T) c.2825G>T (p.Gly942Val) c.3446G>T (p.Gly1149Val) c.3113G>T (p.Gly1038Val) c.3194G>T (p.Gly1065Val) c.3212G>T (p.Gly1071Val) n.3585G>T n.3809G>T c.2381G>T (p.Gly794Val) c.2156G>T (p.Gly719Val) c.3251G>T (p.Gly1084Val) c.1224G>T c.*547G>T (n.*547G>T) n.4190G>T n.2791G>T c.3302G>T (p.Gly1101Val) c.3350G>T (p.Gly1117Val) c.3410G>T (p.Gly1137Val) c.2960G>T (p.Gly987Val) c.1262G>T (p.Gly421Val) c.1079G>T (p.Gly360Val) c.3311G>T (p.Gly1104Val) c.3263G>T (p.Gly1088Val) c.3032G>T (p.Gly1011Val) c.2933G>T (p.Gly978Val) c.2114G>T (p.Gly705Val) n.3665G>T | |
13 | g.51941191C= | CA2091559562 | ATP7B | c.*1096G= (n.*1096G=) c.*2190G= (n.*2190G=) c.2825G= (p.Gly942=) c.3446G= (p.Gly1149=) c.3113G= (p.Gly1038=) c.3194G= (p.Gly1065=) c.3212G= (p.Gly1071=) n.3585G= n.3809G= c.2381G= (p.Gly794=) c.2156G= (p.Gly719=) c.3251G= (p.Gly1084=) c.1224G= c.*547G= (n.*547G=) n.4190G= n.2791G= c.3302G= (p.Gly1101=) c.3350G= (p.Gly1117=) c.3410G= (p.Gly1137=) c.2960G= (p.Gly987=) c.1262G= (p.Gly421=) c.1079G= (p.Gly360=) c.3311G= (p.Gly1104=) c.3263G= (p.Gly1088=) c.3032G= (p.Gly1011=) c.2933G= (p.Gly978=) c.2114G= (p.Gly705=) n.3665G= | |
13 | g.51941191C>G | CA388026664 | ATP7B | c.*1096G>C (n.*1096G>C) c.*2190G>C (n.*2190G>C) c.2825G>C (p.Gly942Ala) c.3446G>C (p.Gly1149Ala) c.3113G>C (p.Gly1038Ala) c.3194G>C (p.Gly1065Ala) c.3212G>C (p.Gly1071Ala) n.3585G>C n.3809G>C c.2381G>C (p.Gly794Ala) c.2156G>C (p.Gly719Ala) c.3251G>C (p.Gly1084Ala) c.1224G>C c.*547G>C (n.*547G>C) n.4190G>C n.2791G>C c.3302G>C (p.Gly1101Ala) c.3350G>C (p.Gly1117Ala) c.3410G>C (p.Gly1137Ala) c.2960G>C (p.Gly987Ala) c.1262G>C (p.Gly421Ala) c.1079G>C (p.Gly360Ala) c.3311G>C (p.Gly1104Ala) c.3263G>C (p.Gly1088Ala) c.3032G>C (p.Gly1011Ala) c.2933G>C (p.Gly978Ala) c.2114G>C (p.Gly705Ala) n.3665G>C | ClinVar dbSNP |
13 | g.51941191C>T | CA388026666 | ATP7B | c.*1096G>A (n.*1096G>A) c.*2190G>A (n.*2190G>A) c.2825G>A (p.Gly942Glu) c.3446G>A (p.Gly1149Glu) c.3113G>A (p.Gly1038Glu) c.3194G>A (p.Gly1065Glu) c.3212G>A (p.Gly1071Glu) n.3585G>A n.3809G>A c.2381G>A (p.Gly794Glu) c.2156G>A (p.Gly719Glu) c.3251G>A (p.Gly1084Glu) c.1224G>A c.*547G>A (n.*547G>A) n.4190G>A n.2791G>A c.3302G>A (p.Gly1101Glu) c.3350G>A (p.Gly1117Glu) c.3410G>A (p.Gly1137Glu) c.2960G>A (p.Gly987Glu) c.1262G>A (p.Gly421Glu) c.1079G>A (p.Gly360Glu) c.3311G>A (p.Gly1104Glu) c.3263G>A (p.Gly1088Glu) c.3032G>A (p.Gly1011Glu) c.2933G>A (p.Gly978Glu) c.2114G>A (p.Gly705Glu) n.3665G>A | |
13 | g.51941192C>A | CA388026671 | ATP7B | c.*1095G>T (n.*1095G>T) c.*2189G>T (n.*2189G>T) c.2824G>T (p.Gly942Ter) c.3445G>T (p.Gly1149Ter) c.3112G>T (p.Gly1038Ter) c.3193G>T (p.Gly1065Ter) c.3211G>T (p.Gly1071Ter) n.3584G>T n.3808G>T c.2380G>T (p.Gly794Ter) c.2155G>T (p.Gly719Ter) c.3250G>T (p.Gly1084Ter) c.1223G>T c.*546G>T (n.*546G>T) n.4189G>T n.2790G>T c.3301G>T (p.Gly1101Ter) c.3349G>T (p.Gly1117Ter) c.3409G>T (p.Gly1137Ter) c.2959G>T (p.Gly987Ter) c.1261G>T (p.Gly421Ter) c.1078G>T (p.Gly360Ter) c.3310G>T (p.Gly1104Ter) c.3262G>T (p.Gly1088Ter) c.3031G>T (p.Gly1011Ter) c.2932G>T (p.Gly978Ter) c.2113G>T (p.Gly705Ter) n.3664G>T | |
13 | g.51941192C= | CA2091559565 | ATP7B | c.*1095G= (n.*1095G=) c.*2189G= (n.*2189G=) c.2824G= (p.Gly942=) c.3445G= (p.Gly1149=) c.3112G= (p.Gly1038=) c.3193G= (p.Gly1065=) c.3211G= (p.Gly1071=) n.3584G= n.3808G= c.2380G= (p.Gly794=) c.2155G= (p.Gly719=) c.3250G= (p.Gly1084=) c.1223G= c.*546G= (n.*546G=) n.4189G= n.2790G= c.3301G= (p.Gly1101=) c.3349G= (p.Gly1117=) c.3409G= (p.Gly1137=) c.2959G= (p.Gly987=) c.1261G= (p.Gly421=) c.1078G= (p.Gly360=) c.3310G= (p.Gly1104=) c.3262G= (p.Gly1088=) c.3031G= (p.Gly1011=) c.2932G= (p.Gly978=) c.2113G= (p.Gly705=) n.3664G= | |
13 | g.51941192C>G | CA388026670 | ATP7B | c.*1095G>C (n.*1095G>C) c.*2189G>C (n.*2189G>C) c.2824G>C (p.Gly942Arg) c.3445G>C (p.Gly1149Arg) c.3112G>C (p.Gly1038Arg) c.3193G>C (p.Gly1065Arg) c.3211G>C (p.Gly1071Arg) n.3584G>C n.3808G>C c.2380G>C (p.Gly794Arg) c.2155G>C (p.Gly719Arg) c.3250G>C (p.Gly1084Arg) c.1223G>C c.*546G>C (n.*546G>C) n.4189G>C n.2790G>C c.3301G>C (p.Gly1101Arg) c.3349G>C (p.Gly1117Arg) c.3409G>C (p.Gly1137Arg) c.2959G>C (p.Gly987Arg) c.1261G>C (p.Gly421Arg) c.1078G>C (p.Gly360Arg) c.3310G>C (p.Gly1104Arg) c.3262G>C (p.Gly1088Arg) c.3031G>C (p.Gly1011Arg) c.2932G>C (p.Gly978Arg) c.2113G>C (p.Gly705Arg) n.3664G>C | dbSNP gnomAD v4 |
13 | g.51941192C>T | CA388026669 | ATP7B | c.*1095G>A (n.*1095G>A) c.*2189G>A (n.*2189G>A) c.2824G>A (p.Gly942Arg) c.3445G>A (p.Gly1149Arg) c.3112G>A (p.Gly1038Arg) c.3193G>A (p.Gly1065Arg) c.3211G>A (p.Gly1071Arg) n.3584G>A n.3808G>A c.2380G>A (p.Gly794Arg) c.2155G>A (p.Gly719Arg) c.3250G>A (p.Gly1084Arg) c.1223G>A c.*546G>A (n.*546G>A) n.4189G>A n.2790G>A c.3301G>A (p.Gly1101Arg) c.3349G>A (p.Gly1117Arg) c.3409G>A (p.Gly1137Arg) c.2959G>A (p.Gly987Arg) c.1261G>A (p.Gly421Arg) c.1078G>A (p.Gly360Arg) c.3310G>A (p.Gly1104Arg) c.3262G>A (p.Gly1088Arg) c.3031G>A (p.Gly1011Arg) c.2932G>A (p.Gly978Arg) c.2113G>A (p.Gly705Arg) n.3664G>A | gnomAD v4 |
13 | g.51941193A>C | CA388026674 | ATP7B | c.*1094T>G (n.*1094T>G) c.*2188T>G (n.*2188T>G) c.2823T>G (p.Ile941Met) c.3444T>G (p.Ile1148Met) c.3111T>G (p.Ile1037Met) c.3192T>G (p.Ile1064Met) c.3210T>G (p.Ile1070Met) n.3583T>G n.3807T>G c.2379T>G (p.Ile793Met) c.2154T>G (p.Ile718Met) c.3249T>G (p.Ile1083Met) c.1222T>G c.*545T>G (n.*545T>G) n.4188T>G n.2789T>G c.3300T>G (p.Ile1100Met) c.3348T>G (p.Ile1116Met) c.3408T>G (p.Ile1136Met) c.2958T>G (p.Ile986Met) c.1260T>G (p.Ile420Met) c.1077T>G (p.Ile359Met) c.3309T>G (p.Ile1103Met) c.3261T>G (p.Ile1087Met) c.3030T>G (p.Ile1010Met) c.2931T>G (p.Ile977Met) c.2112T>G (p.Ile704Met) n.3663T>G | gnomAD v4 |
13 | g.51941193A>G | CA483894133 | ATP7B | c.*1094T>C (n.*1094T>C) c.*2188T>C (n.*2188T>C) c.2823T>C (p.Ile941=) c.3444T>C (p.Ile1148=) c.3111T>C (p.Ile1037=) c.3192T>C (p.Ile1064=) c.3210T>C (p.Ile1070=) n.3583T>C n.3807T>C c.2379T>C (p.Ile793=) c.2154T>C (p.Ile718=) c.3249T>C (p.Ile1083=) c.1222T>C c.*545T>C (n.*545T>C) n.4188T>C n.2789T>C c.3300T>C (p.Ile1100=) c.3348T>C (p.Ile1116=) c.3408T>C (p.Ile1136=) c.2958T>C (p.Ile986=) c.1260T>C (p.Ile420=) c.1077T>C (p.Ile359=) c.3309T>C (p.Ile1103=) c.3261T>C (p.Ile1087=) c.3030T>C (p.Ile1010=) c.2931T>C (p.Ile977=) c.2112T>C (p.Ile704=) n.3663T>C | |
13 | g.51941193A>T | CA483894135 | ATP7B | c.*1094T>A (n.*1094T>A) c.*2188T>A (n.*2188T>A) c.2823T>A (p.Ile941=) c.3444T>A (p.Ile1148=) c.3111T>A (p.Ile1037=) c.3192T>A (p.Ile1064=) c.3210T>A (p.Ile1070=) n.3583T>A n.3807T>A c.2379T>A (p.Ile793=) c.2154T>A (p.Ile718=) c.3249T>A (p.Ile1083=) c.1222T>A c.*545T>A (n.*545T>A) n.4188T>A n.2789T>A c.3300T>A (p.Ile1100=) c.3348T>A (p.Ile1116=) c.3408T>A (p.Ile1136=) c.2958T>A (p.Ile986=) c.1260T>A (p.Ile420=) c.1077T>A (p.Ile359=) c.3309T>A (p.Ile1103=) c.3261T>A (p.Ile1087=) c.3030T>A (p.Ile1010=) c.2931T>A (p.Ile977=) c.2112T>A (p.Ile704=) n.3663T>A | |
13 | g.51941194A= | CA2091559568 | ATP7B | c.*1093T= (n.*1093T=) c.*2187T= (n.*2187T=) c.2822T= (p.Ile941=) c.3443T= (p.Ile1148=) c.3110T= (p.Ile1037=) c.3191T= (p.Ile1064=) c.3209T= (p.Ile1070=) n.3582T= n.3806T= c.2378T= (p.Ile793=) c.2153T= (p.Ile718=) c.3248T= (p.Ile1083=) c.1221T= c.*544T= (n.*544T=) n.4187T= n.2788T= c.3299T= (p.Ile1100=) c.3347T= (p.Ile1116=) c.3407T= (p.Ile1136=) c.2957T= (p.Ile986=) c.1259T= (p.Ile420=) c.1076T= (p.Ile359=) c.3308T= (p.Ile1103=) c.3260T= (p.Ile1087=) c.3029T= (p.Ile1010=) c.2930T= (p.Ile977=) c.2111T= (p.Ile704=) n.3662T= | |
13 | g.51941194A>C | CA388026675 | ATP7B | c.*1093T>G (n.*1093T>G) c.*2187T>G (n.*2187T>G) c.2822T>G (p.Ile941Ser) c.3443T>G (p.Ile1148Ser) c.3110T>G (p.Ile1037Ser) c.3191T>G (p.Ile1064Ser) c.3209T>G (p.Ile1070Ser) n.3582T>G n.3806T>G c.2378T>G (p.Ile793Ser) c.2153T>G (p.Ile718Ser) c.3248T>G (p.Ile1083Ser) c.1221T>G c.*544T>G (n.*544T>G) n.4187T>G n.2788T>G c.3299T>G (p.Ile1100Ser) c.3347T>G (p.Ile1116Ser) c.3407T>G (p.Ile1136Ser) c.2957T>G (p.Ile986Ser) c.1259T>G (p.Ile420Ser) c.1076T>G (p.Ile359Ser) c.3308T>G (p.Ile1103Ser) c.3260T>G (p.Ile1087Ser) c.3029T>G (p.Ile1010Ser) c.2930T>G (p.Ile977Ser) c.2111T>G (p.Ile704Ser) n.3662T>G | |
13 | g.51941194A>G | CA259856 | ATP7B | c.*1093T>C (n.*1093T>C) c.*2187T>C (n.*2187T>C) c.2822T>C (p.Ile941Thr) c.3443T>C (p.Ile1148Thr) c.3110T>C (p.Ile1037Thr) c.3191T>C (p.Ile1064Thr) c.3209T>C (p.Ile1070Thr) n.3582T>C n.3806T>C c.2378T>C (p.Ile793Thr) c.2153T>C (p.Ile718Thr) c.3248T>C (p.Ile1083Thr) c.1221T>C c.*544T>C (n.*544T>C) n.4187T>C n.2788T>C c.3299T>C (p.Ile1100Thr) c.3347T>C (p.Ile1116Thr) c.3407T>C (p.Ile1136Thr) c.2957T>C (p.Ile986Thr) c.1259T>C (p.Ile420Thr) c.1076T>C (p.Ile359Thr) c.3308T>C (p.Ile1103Thr) c.3260T>C (p.Ile1087Thr) c.3029T>C (p.Ile1010Thr) c.2930T>C (p.Ile977Thr) c.2111T>C (p.Ile704Thr) n.3662T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51941194A>T | CA388026681 | ATP7B | c.*1093T>A (n.*1093T>A) c.*2187T>A (n.*2187T>A) c.2822T>A (p.Ile941Asn) c.3443T>A (p.Ile1148Asn) c.3110T>A (p.Ile1037Asn) c.3191T>A (p.Ile1064Asn) c.3209T>A (p.Ile1070Asn) n.3582T>A n.3806T>A c.2378T>A (p.Ile793Asn) c.2153T>A (p.Ile718Asn) c.3248T>A (p.Ile1083Asn) c.1221T>A c.*544T>A (n.*544T>A) n.4187T>A n.2788T>A c.3299T>A (p.Ile1100Asn) c.3347T>A (p.Ile1116Asn) c.3407T>A (p.Ile1136Asn) c.2957T>A (p.Ile986Asn) c.1259T>A (p.Ile420Asn) c.1076T>A (p.Ile359Asn) c.3308T>A (p.Ile1103Asn) c.3260T>A (p.Ile1087Asn) c.3029T>A (p.Ile1010Asn) c.2930T>A (p.Ile977Asn) c.2111T>A (p.Ile704Asn) n.3662T>A | |
13 | g.51941195T>A | CA388026684 | ATP7B | c.*1092A>T (n.*1092A>T) c.*2186A>T (n.*2186A>T) c.2821A>T (p.Ile941Phe) c.3442A>T (p.Ile1148Phe) c.3109A>T (p.Ile1037Phe) c.3190A>T (p.Ile1064Phe) c.3208A>T (p.Ile1070Phe) n.3581A>T n.3805A>T c.2377A>T (p.Ile793Phe) c.2152A>T (p.Ile718Phe) c.3247A>T (p.Ile1083Phe) c.1220A>T c.*543A>T (n.*543A>T) n.4186A>T n.2787A>T c.3298A>T (p.Ile1100Phe) c.3346A>T (p.Ile1116Phe) c.3406A>T (p.Ile1136Phe) c.2956A>T (p.Ile986Phe) c.1258A>T (p.Ile420Phe) c.1075A>T (p.Ile359Phe) c.3307A>T (p.Ile1103Phe) c.3259A>T (p.Ile1087Phe) c.3028A>T (p.Ile1010Phe) c.2929A>T (p.Ile977Phe) c.2110A>T (p.Ile704Phe) n.3661A>T | |
13 | g.51941195T>C | CA388026687 | ATP7B | c.*1092A>G (n.*1092A>G) c.*2186A>G (n.*2186A>G) c.2821A>G (p.Ile941Val) c.3442A>G (p.Ile1148Val) c.3109A>G (p.Ile1037Val) c.3190A>G (p.Ile1064Val) c.3208A>G (p.Ile1070Val) n.3581A>G n.3805A>G c.2377A>G (p.Ile793Val) c.2152A>G (p.Ile718Val) c.3247A>G (p.Ile1083Val) c.1220A>G c.*543A>G (n.*543A>G) n.4186A>G n.2787A>G c.3298A>G (p.Ile1100Val) c.3346A>G (p.Ile1116Val) c.3406A>G (p.Ile1136Val) c.2956A>G (p.Ile986Val) c.1258A>G (p.Ile420Val) c.1075A>G (p.Ile359Val) c.3307A>G (p.Ile1103Val) c.3259A>G (p.Ile1087Val) c.3028A>G (p.Ile1010Val) c.2929A>G (p.Ile977Val) c.2110A>G (p.Ile704Val) n.3661A>G | |
13 | g.51941195T>G | CA388026689 | ATP7B | c.*1092A>C (n.*1092A>C) c.*2186A>C (n.*2186A>C) c.2821A>C (p.Ile941Leu) c.3442A>C (p.Ile1148Leu) c.3109A>C (p.Ile1037Leu) c.3190A>C (p.Ile1064Leu) c.3208A>C (p.Ile1070Leu) n.3581A>C n.3805A>C c.2377A>C (p.Ile793Leu) c.2152A>C (p.Ile718Leu) c.3247A>C (p.Ile1083Leu) c.1220A>C c.*543A>C (n.*543A>C) n.4186A>C n.2787A>C c.3298A>C (p.Ile1100Leu) c.3346A>C (p.Ile1116Leu) c.3406A>C (p.Ile1136Leu) c.2956A>C (p.Ile986Leu) c.1258A>C (p.Ile420Leu) c.1075A>C (p.Ile359Leu) c.3307A>C (p.Ile1103Leu) c.3259A>C (p.Ile1087Leu) c.3028A>C (p.Ile1010Leu) c.2929A>C (p.Ile977Leu) c.2110A>C (p.Ile704Leu) n.3661A>C | |
13 | g.51941196C>A | CA483894142 | ATP7B | c.*1091G>T (n.*1091G>T) c.*2185G>T (n.*2185G>T) c.2820G>T (p.Leu940=) c.3441G>T (p.Leu1147=) c.3108G>T (p.Leu1036=) c.3189G>T (p.Leu1063=) c.3207G>T (p.Leu1069=) n.3580G>T n.3804G>T c.2376G>T (p.Leu792=) c.2151G>T (p.Leu717=) c.3246G>T (p.Leu1082=) c.1219G>T c.*542G>T (n.*542G>T) n.4185G>T n.2786G>T c.3297G>T (p.Leu1099=) c.3345G>T (p.Leu1115=) c.3405G>T (p.Leu1135=) c.2955G>T (p.Leu985=) c.1257G>T (p.Leu419=) c.1074G>T (p.Leu358=) c.3306G>T (p.Leu1102=) c.3258G>T (p.Leu1086=) c.3027G>T (p.Leu1009=) c.2928G>T (p.Leu976=) c.2109G>T (p.Leu703=) n.3660G>T | |
13 | g.51941196C>G | CA483894144 | ATP7B | c.*1091G>C (n.*1091G>C) c.*2185G>C (n.*2185G>C) c.2820G>C (p.Leu940=) c.3441G>C (p.Leu1147=) c.3108G>C (p.Leu1036=) c.3189G>C (p.Leu1063=) c.3207G>C (p.Leu1069=) n.3580G>C n.3804G>C c.2376G>C (p.Leu792=) c.2151G>C (p.Leu717=) c.3246G>C (p.Leu1082=) c.1219G>C c.*542G>C (n.*542G>C) n.4185G>C n.2786G>C c.3297G>C (p.Leu1099=) c.3345G>C (p.Leu1115=) c.3405G>C (p.Leu1135=) c.2955G>C (p.Leu985=) c.1257G>C (p.Leu419=) c.1074G>C (p.Leu358=) c.3306G>C (p.Leu1102=) c.3258G>C (p.Leu1086=) c.3027G>C (p.Leu1009=) c.2928G>C (p.Leu976=) c.2109G>C (p.Leu703=) n.3660G>C | gnomAD v4 |
13 | g.51941196C>T | CA483894146 | ATP7B | c.*1091G>A (n.*1091G>A) c.*2185G>A (n.*2185G>A) c.2820G>A (p.Leu940=) c.3441G>A (p.Leu1147=) c.3108G>A (p.Leu1036=) c.3189G>A (p.Leu1063=) c.3207G>A (p.Leu1069=) n.3580G>A n.3804G>A c.2376G>A (p.Leu792=) c.2151G>A (p.Leu717=) c.3246G>A (p.Leu1082=) c.1219G>A c.*542G>A (n.*542G>A) n.4185G>A n.2786G>A c.3297G>A (p.Leu1099=) c.3345G>A (p.Leu1115=) c.3405G>A (p.Leu1135=) c.2955G>A (p.Leu985=) c.1257G>A (p.Leu419=) c.1074G>A (p.Leu358=) c.3306G>A (p.Leu1102=) c.3258G>A (p.Leu1086=) c.3027G>A (p.Leu1009=) c.2928G>A (p.Leu976=) c.2109G>A (p.Leu703=) n.3660G>A | |
13 | g.51941197A= | CA2091559571 | ATP7B | c.*1090T= (n.*1090T=) c.*2184T= (n.*2184T=) c.2819T= (p.Leu940=) c.3440T= (p.Leu1147=) c.3107T= (p.Leu1036=) c.3188T= (p.Leu1063=) c.3206T= (p.Leu1069=) n.3579T= n.3803T= c.2375T= (p.Leu792=) c.2150T= (p.Leu717=) c.3245T= (p.Leu1082=) c.1218T= c.*541T= (n.*541T=) n.4184T= n.2785T= c.3296T= (p.Leu1099=) c.3344T= (p.Leu1115=) c.3404T= (p.Leu1135=) c.2954T= (p.Leu985=) c.1256T= (p.Leu419=) c.1073T= (p.Leu358=) c.3305T= (p.Leu1102=) c.3257T= (p.Leu1086=) c.3026T= (p.Leu1009=) c.2927T= (p.Leu976=) c.2108T= (p.Leu703=) n.3659T= | |
13 | g.51941197A>C | CA6988683 | ATP7B | c.*1090T>G (n.*1090T>G) c.*2184T>G (n.*2184T>G) c.2819T>G (p.Leu940Arg) c.3440T>G (p.Leu1147Arg) c.3107T>G (p.Leu1036Arg) c.3188T>G (p.Leu1063Arg) c.3206T>G (p.Leu1069Arg) n.3579T>G n.3803T>G c.2375T>G (p.Leu792Arg) c.2150T>G (p.Leu717Arg) c.3245T>G (p.Leu1082Arg) c.1218T>G c.*541T>G (n.*541T>G) n.4184T>G n.2785T>G c.3296T>G (p.Leu1099Arg) c.3344T>G (p.Leu1115Arg) c.3404T>G (p.Leu1135Arg) c.2954T>G (p.Leu985Arg) c.1256T>G (p.Leu419Arg) c.1073T>G (p.Leu358Arg) c.3305T>G (p.Leu1102Arg) c.3257T>G (p.Leu1086Arg) c.3026T>G (p.Leu1009Arg) c.2927T>G (p.Leu976Arg) c.2108T>G (p.Leu703Arg) n.3659T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51941197A>G | CA388026695 | ATP7B | c.*1090T>C (n.*1090T>C) c.*2184T>C (n.*2184T>C) c.2819T>C (p.Leu940Pro) c.3440T>C (p.Leu1147Pro) c.3107T>C (p.Leu1036Pro) c.3188T>C (p.Leu1063Pro) c.3206T>C (p.Leu1069Pro) n.3579T>C n.3803T>C c.2375T>C (p.Leu792Pro) c.2150T>C (p.Leu717Pro) c.3245T>C (p.Leu1082Pro) c.1218T>C c.*541T>C (n.*541T>C) n.4184T>C n.2785T>C c.3296T>C (p.Leu1099Pro) c.3344T>C (p.Leu1115Pro) c.3404T>C (p.Leu1135Pro) c.2954T>C (p.Leu985Pro) c.1256T>C (p.Leu419Pro) c.1073T>C (p.Leu358Pro) c.3305T>C (p.Leu1102Pro) c.3257T>C (p.Leu1086Pro) c.3026T>C (p.Leu1009Pro) c.2927T>C (p.Leu976Pro) c.2108T>C (p.Leu703Pro) n.3659T>C | gnomAD v4 |
13 | g.51941197A>T | CA388026699 | ATP7B | c.*1090T>A (n.*1090T>A) c.*2184T>A (n.*2184T>A) c.2819T>A (p.Leu940Gln) c.3440T>A (p.Leu1147Gln) c.3107T>A (p.Leu1036Gln) c.3188T>A (p.Leu1063Gln) c.3206T>A (p.Leu1069Gln) n.3579T>A n.3803T>A c.2375T>A (p.Leu792Gln) c.2150T>A (p.Leu717Gln) c.3245T>A (p.Leu1082Gln) c.1218T>A c.*541T>A (n.*541T>A) n.4184T>A n.2785T>A c.3296T>A (p.Leu1099Gln) c.3344T>A (p.Leu1115Gln) c.3404T>A (p.Leu1135Gln) c.2954T>A (p.Leu985Gln) c.1256T>A (p.Leu419Gln) c.1073T>A (p.Leu358Gln) c.3305T>A (p.Leu1102Gln) c.3257T>A (p.Leu1086Gln) c.3026T>A (p.Leu1009Gln) c.2927T>A (p.Leu976Gln) c.2108T>A (p.Leu703Gln) n.3659T>A | |
13 | g.51941198G>A | CA483894152 | ATP7B | c.*1089C>T (n.*1089C>T) c.*2183C>T (n.*2183C>T) c.2818C>T (p.Leu940=) c.3439C>T (p.Leu1147=) c.3106C>T (p.Leu1036=) c.3187C>T (p.Leu1063=) c.3205C>T (p.Leu1069=) n.3578C>T n.3802C>T c.2374C>T (p.Leu792=) c.2149C>T (p.Leu717=) c.3244C>T (p.Leu1082=) c.1217C>T c.*540C>T (n.*540C>T) n.4183C>T n.2784C>T c.3295C>T (p.Leu1099=) c.3343C>T (p.Leu1115=) c.3403C>T (p.Leu1135=) c.2953C>T (p.Leu985=) c.1255C>T (p.Leu419=) c.1072C>T (p.Leu358=) c.3304C>T (p.Leu1102=) c.3256C>T (p.Leu1086=) c.3025C>T (p.Leu1009=) c.2926C>T (p.Leu976=) c.2107C>T (p.Leu703=) n.3658C>T | gnomAD v4 |
13 | g.51941198G>C | CA388026707 | ATP7B | c.*1089C>G (n.*1089C>G) c.*2183C>G (n.*2183C>G) c.2818C>G (p.Leu940Val) c.3439C>G (p.Leu1147Val) c.3106C>G (p.Leu1036Val) c.3187C>G (p.Leu1063Val) c.3205C>G (p.Leu1069Val) n.3578C>G n.3802C>G c.2374C>G (p.Leu792Val) c.2149C>G (p.Leu717Val) c.3244C>G (p.Leu1082Val) c.1217C>G c.*540C>G (n.*540C>G) n.4183C>G n.2784C>G c.3295C>G (p.Leu1099Val) c.3343C>G (p.Leu1115Val) c.3403C>G (p.Leu1135Val) c.2953C>G (p.Leu985Val) c.1255C>G (p.Leu419Val) c.1072C>G (p.Leu358Val) c.3304C>G (p.Leu1102Val) c.3256C>G (p.Leu1086Val) c.3025C>G (p.Leu1009Val) c.2926C>G (p.Leu976Val) c.2107C>G (p.Leu703Val) n.3658C>G | |
13 | g.51941198G>T | CA388026708 | ATP7B | c.*1089C>A (n.*1089C>A) c.*2183C>A (n.*2183C>A) c.2818C>A (p.Leu940Met) c.3439C>A (p.Leu1147Met) c.3106C>A (p.Leu1036Met) c.3187C>A (p.Leu1063Met) c.3205C>A (p.Leu1069Met) n.3578C>A n.3802C>A c.2374C>A (p.Leu792Met) c.2149C>A (p.Leu717Met) c.3244C>A (p.Leu1082Met) c.1217C>A c.*540C>A (n.*540C>A) n.4183C>A n.2784C>A c.3295C>A (p.Leu1099Met) c.3343C>A (p.Leu1115Met) c.3403C>A (p.Leu1135Met) c.2953C>A (p.Leu985Met) c.1255C>A (p.Leu419Met) c.1072C>A (p.Leu358Met) c.3304C>A (p.Leu1102Met) c.3256C>A (p.Leu1086Met) c.3025C>A (p.Leu1009Met) c.2926C>A (p.Leu976Met) c.2107C>A (p.Leu703Met) n.3658C>A | |
13 | g.51941198_51941200delinsGCA | CA2091559573 | ATP7B | c.*1087_*1089delinsTGC (n.*1087_*1089delinsTGC) c.*2181_*2183delinsTGC (n.*2181_*2183delinsTGC) c.2816_2818delinsTGC (p.Val939=) c.3437_3439delinsTGC (p.Val1146=) c.3104_3106delinsTGC (p.Val1035=) c.3185_3187delinsTGC (p.Val1062=) c.3203_3205delinsTGC (p.Val1068=) n.3576_3578delinsTGC n.3800_3802delinsTGC c.2372_2374delinsTGC (p.Val791=) c.2147_2149delinsTGC (p.Val716=) c.3242_3244delinsTGC (p.Val1081=) c.1215_1217delinsTGC c.*538_*540delinsTGC (n.*538_*540delinsTGC) n.4181_4183delinsTGC n.2782_2784delinsTGC c.3293_3295delinsTGC (p.Val1098=) c.3341_3343delinsTGC (p.Val1114=) c.3401_3403delinsTGC (p.Val1134=) c.2951_2953delinsTGC (p.Val984=) c.1253_1255delinsTGC (p.Val418=) c.1070_1072delinsTGC (p.Val357=) c.3302_3304delinsTGC (p.Val1101=) c.3254_3256delinsTGC (p.Val1085=) c.3023_3025delinsTGC (p.Val1008=) c.2924_2926delinsTGC (p.Val975=) c.2105_2107delinsTGC (p.Val702=) n.3656_3658delinsTGC | |
13 | g.51941199C>A | CA483894155 | ATP7B | c.*1088G>T (n.*1088G>T) c.*2182G>T (n.*2182G>T) c.2817G>T (p.Val939=) c.3438G>T (p.Val1146=) c.3105G>T (p.Val1035=) c.3186G>T (p.Val1062=) c.3204G>T (p.Val1068=) n.3577G>T n.3801G>T c.2373G>T (p.Val791=) c.2148G>T (p.Val716=) c.3243G>T (p.Val1081=) c.1216G>T c.*539G>T (n.*539G>T) n.4182G>T n.2783G>T c.3294G>T (p.Val1098=) c.3342G>T (p.Val1114=) c.3402G>T (p.Val1134=) c.2952G>T (p.Val984=) c.1254G>T (p.Val418=) c.1071G>T (p.Val357=) c.3303G>T (p.Val1101=) c.3255G>T (p.Val1085=) c.3024G>T (p.Val1008=) c.2925G>T (p.Val975=) c.2106G>T (p.Val702=) n.3657G>T | |
13 | g.51941199C>G | CA483894157 | ATP7B | c.*1088G>C (n.*1088G>C) c.*2182G>C (n.*2182G>C) c.2817G>C (p.Val939=) c.3438G>C (p.Val1146=) c.3105G>C (p.Val1035=) c.3186G>C (p.Val1062=) c.3204G>C (p.Val1068=) n.3577G>C n.3801G>C c.2373G>C (p.Val791=) c.2148G>C (p.Val716=) c.3243G>C (p.Val1081=) c.1216G>C c.*539G>C (n.*539G>C) n.4182G>C n.2783G>C c.3294G>C (p.Val1098=) c.3342G>C (p.Val1114=) c.3402G>C (p.Val1134=) c.2952G>C (p.Val984=) c.1254G>C (p.Val418=) c.1071G>C (p.Val357=) c.3303G>C (p.Val1101=) c.3255G>C (p.Val1085=) c.3024G>C (p.Val1008=) c.2925G>C (p.Val975=) c.2106G>C (p.Val702=) n.3657G>C | |
13 | g.51941199C>T | CA483894159 | ATP7B | c.*1088G>A (n.*1088G>A) c.*2182G>A (n.*2182G>A) c.2817G>A (p.Val939=) c.3438G>A (p.Val1146=) c.3105G>A (p.Val1035=) c.3186G>A (p.Val1062=) c.3204G>A (p.Val1068=) n.3577G>A n.3801G>A c.2373G>A (p.Val791=) c.2148G>A (p.Val716=) c.3243G>A (p.Val1081=) c.1216G>A c.*539G>A (n.*539G>A) n.4182G>A n.2783G>A c.3294G>A (p.Val1098=) c.3342G>A (p.Val1114=) c.3402G>A (p.Val1134=) c.2952G>A (p.Val984=) c.1254G>A (p.Val418=) c.1071G>A (p.Val357=) c.3303G>A (p.Val1101=) c.3255G>A (p.Val1085=) c.3024G>A (p.Val1008=) c.2925G>A (p.Val975=) c.2106G>A (p.Val702=) n.3657G>A | |
13 | g.51941201_51941202del | CA2091559576 | ATP7B | c.*1087_*1088del (n.*1087_*1088del) c.*2181_*2182del (n.*2181_*2182del) c.2816_2817del (p.Val939AlafsTer6) c.3437_3438del (p.Val1146AlafsTer6) c.3104_3105del (p.Val1035AlafsTer6) c.3185_3186del (p.Val1062AlafsTer6) c.3203_3204del (p.Val1068AlafsTer6) n.3576_3577del n.3800_3801del c.2372_2373del (p.Val791AlafsTer6) c.2147_2148del (p.Val716AlafsTer6) c.3242_3243del (p.Val1081AlafsTer6) c.1215_1216del c.*538_*539del (n.*538_*539del) n.4181_4182del n.2782_2783del c.3293_3294del (p.Val1098AlafsTer6) c.3341_3342del (p.Val1114AlafsTer6) c.3401_3402del (p.Val1134AlafsTer6) c.2951_2952del (p.Val984AlafsTer6) c.1253_1254del (p.Val418AlafsTer6) c.1070_1071del (p.Val357AlafsTer6) c.3302_3303del (p.Val1101AlafsTer6) c.3254_3255del (p.Val1085AlafsTer6) c.3023_3024del (p.Val1008AlafsTer6) c.2924_2925del (p.Val975AlafsTer6) c.2105_2106del (p.Val702AlafsTer6) n.3656_3657del | ClinVar dbSNP |
13 | g.51941200A>C | CA388026714 | ATP7B | c.*1087T>G (n.*1087T>G) c.*2181T>G (n.*2181T>G) c.2816T>G (p.Val939Gly) c.3437T>G (p.Val1146Gly) c.3104T>G (p.Val1035Gly) c.3185T>G (p.Val1062Gly) c.3203T>G (p.Val1068Gly) n.3576T>G n.3800T>G c.2372T>G (p.Val791Gly) c.2147T>G (p.Val716Gly) c.3242T>G (p.Val1081Gly) c.1215T>G c.*538T>G (n.*538T>G) n.4181T>G n.2782T>G c.3293T>G (p.Val1098Gly) c.3341T>G (p.Val1114Gly) c.3401T>G (p.Val1134Gly) c.2951T>G (p.Val984Gly) c.1253T>G (p.Val418Gly) c.1070T>G (p.Val357Gly) c.3302T>G (p.Val1101Gly) c.3254T>G (p.Val1085Gly) c.3023T>G (p.Val1008Gly) c.2924T>G (p.Val975Gly) c.2105T>G (p.Val702Gly) n.3656T>G | |
13 | g.51941200A>G | CA388026713 | ATP7B | c.*1087T>C (n.*1087T>C) c.*2181T>C (n.*2181T>C) c.2816T>C (p.Val939Ala) c.3437T>C (p.Val1146Ala) c.3104T>C (p.Val1035Ala) c.3185T>C (p.Val1062Ala) c.3203T>C (p.Val1068Ala) n.3576T>C n.3800T>C c.2372T>C (p.Val791Ala) c.2147T>C (p.Val716Ala) c.3242T>C (p.Val1081Ala) c.1215T>C c.*538T>C (n.*538T>C) n.4181T>C n.2782T>C c.3293T>C (p.Val1098Ala) c.3341T>C (p.Val1114Ala) c.3401T>C (p.Val1134Ala) c.2951T>C (p.Val984Ala) c.1253T>C (p.Val418Ala) c.1070T>C (p.Val357Ala) c.3302T>C (p.Val1101Ala) c.3254T>C (p.Val1085Ala) c.3023T>C (p.Val1008Ala) c.2924T>C (p.Val975Ala) c.2105T>C (p.Val702Ala) n.3656T>C | ClinVar dbSNP gnomAD v4 |
13 | g.51941200A>T | CA388026712 | ATP7B | c.*1087T>A (n.*1087T>A) c.*2181T>A (n.*2181T>A) c.2816T>A (p.Val939Glu) c.3437T>A (p.Val1146Glu) c.3104T>A (p.Val1035Glu) c.3185T>A (p.Val1062Glu) c.3203T>A (p.Val1068Glu) n.3576T>A n.3800T>A c.2372T>A (p.Val791Glu) c.2147T>A (p.Val716Glu) c.3242T>A (p.Val1081Glu) c.1215T>A c.*538T>A (n.*538T>A) n.4181T>A n.2782T>A c.3293T>A (p.Val1098Glu) c.3341T>A (p.Val1114Glu) c.3401T>A (p.Val1134Glu) c.2951T>A (p.Val984Glu) c.1253T>A (p.Val418Glu) c.1070T>A (p.Val357Glu) c.3302T>A (p.Val1101Glu) c.3254T>A (p.Val1085Glu) c.3023T>A (p.Val1008Glu) c.2924T>A (p.Val975Glu) c.2105T>A (p.Val702Glu) n.3656T>A | |
13 | g.51941201C>A | CA388026715 | ATP7B | c.*1086G>T (n.*1086G>T) c.*2180G>T (n.*2180G>T) c.2815G>T (p.Val939Leu) c.3436G>T (p.Val1146Leu) c.3103G>T (p.Val1035Leu) c.3184G>T (p.Val1062Leu) c.3202G>T (p.Val1068Leu) n.3575G>T n.3799G>T c.2371G>T (p.Val791Leu) c.2146G>T (p.Val716Leu) c.3241G>T (p.Val1081Leu) c.1214G>T c.*537G>T (n.*537G>T) n.4180G>T n.2781G>T c.3292G>T (p.Val1098Leu) c.3340G>T (p.Val1114Leu) c.3400G>T (p.Val1134Leu) c.2950G>T (p.Val984Leu) c.1252G>T (p.Val418Leu) c.1069G>T (p.Val357Leu) c.3301G>T (p.Val1101Leu) c.3253G>T (p.Val1085Leu) c.3022G>T (p.Val1008Leu) c.2923G>T (p.Val975Leu) c.2104G>T (p.Val702Leu) n.3655G>T | |
13 | g.51941201C= | CA2091559580 | ATP7B | c.*1086G= (n.*1086G=) c.*2180G= (n.*2180G=) c.2815G= (p.Val939=) c.3436G= (p.Val1146=) c.3103G= (p.Val1035=) c.3184G= (p.Val1062=) c.3202G= (p.Val1068=) n.3575G= n.3799G= c.2371G= (p.Val791=) c.2146G= (p.Val716=) c.3241G= (p.Val1081=) c.1214G= c.*537G= (n.*537G=) n.4180G= n.2781G= c.3292G= (p.Val1098=) c.3340G= (p.Val1114=) c.3400G= (p.Val1134=) c.2950G= (p.Val984=) c.1252G= (p.Val418=) c.1069G= (p.Val357=) c.3301G= (p.Val1101=) c.3253G= (p.Val1085=) c.3022G= (p.Val1008=) c.2923G= (p.Val975=) c.2104G= (p.Val702=) n.3655G= | |
13 | g.51941201C>G | CA388026722 | ATP7B | c.*1086G>C (n.*1086G>C) c.*2180G>C (n.*2180G>C) c.2815G>C (p.Val939Leu) c.3436G>C (p.Val1146Leu) c.3103G>C (p.Val1035Leu) c.3184G>C (p.Val1062Leu) c.3202G>C (p.Val1068Leu) n.3575G>C n.3799G>C c.2371G>C (p.Val791Leu) c.2146G>C (p.Val716Leu) c.3241G>C (p.Val1081Leu) c.1214G>C c.*537G>C (n.*537G>C) n.4180G>C n.2781G>C c.3292G>C (p.Val1098Leu) c.3340G>C (p.Val1114Leu) c.3400G>C (p.Val1134Leu) c.2950G>C (p.Val984Leu) c.1252G>C (p.Val418Leu) c.1069G>C (p.Val357Leu) c.3301G>C (p.Val1101Leu) c.3253G>C (p.Val1085Leu) c.3022G>C (p.Val1008Leu) c.2923G>C (p.Val975Leu) c.2104G>C (p.Val702Leu) n.3655G>C | |
13 | g.51941201C>T | CA388026717 | ATP7B | c.*1086G>A (n.*1086G>A) c.*2180G>A (n.*2180G>A) c.2815G>A (p.Val939Met) c.3436G>A (p.Val1146Met) c.3103G>A (p.Val1035Met) c.3184G>A (p.Val1062Met) c.3202G>A (p.Val1068Met) n.3575G>A n.3799G>A c.2371G>A (p.Val791Met) c.2146G>A (p.Val716Met) c.3241G>A (p.Val1081Met) c.1214G>A c.*537G>A (n.*537G>A) n.4180G>A n.2781G>A c.3292G>A (p.Val1098Met) c.3340G>A (p.Val1114Met) c.3400G>A (p.Val1134Met) c.2950G>A (p.Val984Met) c.1252G>A (p.Val418Met) c.1069G>A (p.Val357Met) c.3301G>A (p.Val1101Met) c.3253G>A (p.Val1085Met) c.3022G>A (p.Val1008Met) c.2923G>A (p.Val975Met) c.2104G>A (p.Val702Met) n.3655G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51941202A>C | CA483894167 | ATP7B | c.*1085T>G (n.*1085T>G) c.*2179T>G (n.*2179T>G) c.2814T>G (p.Ser938=) c.3435T>G (p.Ser1145=) c.3102T>G (p.Ser1034=) c.3183T>G (p.Ser1061=) c.3201T>G (p.Ser1067=) n.3574T>G n.3798T>G c.2370T>G (p.Ser790=) c.2145T>G (p.Ser715=) c.3240T>G (p.Ser1080=) c.1213T>G c.*536T>G (n.*536T>G) n.4179T>G n.2780T>G c.3291T>G (p.Ser1097=) c.3339T>G (p.Ser1113=) c.3399T>G (p.Ser1133=) c.2949T>G (p.Ser983=) c.1251T>G (p.Ser417=) c.1068T>G (p.Ser356=) c.3300T>G (p.Ser1100=) c.3252T>G (p.Ser1084=) c.3021T>G (p.Ser1007=) c.2922T>G (p.Ser974=) c.2103T>G (p.Ser701=) n.3654T>G | |
13 | g.51941202A>G | CA483894169 | ATP7B | c.*1085T>C (n.*1085T>C) c.*2179T>C (n.*2179T>C) c.2814T>C (p.Ser938=) c.3435T>C (p.Ser1145=) c.3102T>C (p.Ser1034=) c.3183T>C (p.Ser1061=) c.3201T>C (p.Ser1067=) n.3574T>C n.3798T>C c.2370T>C (p.Ser790=) c.2145T>C (p.Ser715=) c.3240T>C (p.Ser1080=) c.1213T>C c.*536T>C (n.*536T>C) n.4179T>C n.2780T>C c.3291T>C (p.Ser1097=) c.3339T>C (p.Ser1113=) c.3399T>C (p.Ser1133=) c.2949T>C (p.Ser983=) c.1251T>C (p.Ser417=) c.1068T>C (p.Ser356=) c.3300T>C (p.Ser1100=) c.3252T>C (p.Ser1084=) c.3021T>C (p.Ser1007=) c.2922T>C (p.Ser974=) c.2103T>C (p.Ser701=) n.3654T>C | |
13 | g.51941202A>T | CA483894171 | ATP7B | c.*1085T>A (n.*1085T>A) c.*2179T>A (n.*2179T>A) c.2814T>A (p.Ser938=) c.3435T>A (p.Ser1145=) c.3102T>A (p.Ser1034=) c.3183T>A (p.Ser1061=) c.3201T>A (p.Ser1067=) n.3574T>A n.3798T>A c.2370T>A (p.Ser790=) c.2145T>A (p.Ser715=) c.3240T>A (p.Ser1080=) c.1213T>A c.*536T>A (n.*536T>A) n.4179T>A n.2780T>A c.3291T>A (p.Ser1097=) c.3339T>A (p.Ser1113=) c.3399T>A (p.Ser1133=) c.2949T>A (p.Ser983=) c.1251T>A (p.Ser417=) c.1068T>A (p.Ser356=) c.3300T>A (p.Ser1100=) c.3252T>A (p.Ser1084=) c.3021T>A (p.Ser1007=) c.2922T>A (p.Ser974=) c.2103T>A (p.Ser701=) n.3654T>A | |
13 | g.51941203_51941206del | CA912974795 | ATP7B | c.*1082_*1085del (n.*1082_*1085del) c.*2176_*2179del (n.*2176_*2179del) c.2811_2814del (p.Phe937LeufsTer3) c.3432_3435del (p.Phe1144LeufsTer3) c.3099_3102del (p.Phe1033LeufsTer3) c.3180_3183del (p.Phe1060LeufsTer3) c.3198_3201del (p.Phe1066LeufsTer3) n.3571_3574del n.3795_3798del c.2367_2370del (p.Phe789LeufsTer3) c.2142_2145del (p.Phe714LeufsTer3) c.3237_3240del (p.Phe1079LeufsTer3) c.1210_1213del c.*533_*536del (n.*533_*536del) n.4176_4179del n.2777_2780del c.3288_3291del (p.Phe1096LeufsTer3) c.3336_3339del (p.Phe1112LeufsTer3) c.3396_3399del (p.Phe1132LeufsTer3) c.2946_2949del (p.Phe982LeufsTer3) c.1248_1251del (p.Phe416LeufsTer3) c.1065_1068del (p.Phe355LeufsTer3) c.3297_3300del (p.Phe1099LeufsTer3) c.3249_3252del (p.Phe1083LeufsTer3) c.3018_3021del (p.Phe1006LeufsTer3) c.2919_2922del (p.Phe973LeufsTer3) c.2100_2103del (p.Phe700LeufsTer3) n.3651_3654del | |
13 | g.51941203G>A | CA388026725 | ATP7B | c.*1084C>T (n.*1084C>T) c.*2178C>T (n.*2178C>T) c.2813C>T (p.Ser938Phe) c.3434C>T (p.Ser1145Phe) c.3101C>T (p.Ser1034Phe) c.3182C>T (p.Ser1061Phe) c.3200C>T (p.Ser1067Phe) n.3573C>T n.3797C>T c.2369C>T (p.Ser790Phe) c.2144C>T (p.Ser715Phe) c.3239C>T (p.Ser1080Phe) c.1212C>T c.*535C>T (n.*535C>T) n.4178C>T n.2779C>T c.3290C>T (p.Ser1097Phe) c.3338C>T (p.Ser1113Phe) c.3398C>T (p.Ser1133Phe) c.2948C>T (p.Ser983Phe) c.1250C>T (p.Ser417Phe) c.1067C>T (p.Ser356Phe) c.3299C>T (p.Ser1100Phe) c.3251C>T (p.Ser1084Phe) c.3020C>T (p.Ser1007Phe) c.2921C>T (p.Ser974Phe) c.2102C>T (p.Ser701Phe) n.3653C>T | |
13 | g.51941203G>C | CA6988684 | ATP7B | c.*1084C>G (n.*1084C>G) c.*2178C>G (n.*2178C>G) c.2813C>G (p.Ser938Cys) c.3434C>G (p.Ser1145Cys) c.3101C>G (p.Ser1034Cys) c.3182C>G (p.Ser1061Cys) c.3200C>G (p.Ser1067Cys) n.3573C>G n.3797C>G c.2369C>G (p.Ser790Cys) c.2144C>G (p.Ser715Cys) c.3239C>G (p.Ser1080Cys) c.1212C>G c.*535C>G (n.*535C>G) n.4178C>G n.2779C>G c.3290C>G (p.Ser1097Cys) c.3338C>G (p.Ser1113Cys) c.3398C>G (p.Ser1133Cys) c.2948C>G (p.Ser983Cys) c.1250C>G (p.Ser417Cys) c.1067C>G (p.Ser356Cys) c.3299C>G (p.Ser1100Cys) c.3251C>G (p.Ser1084Cys) c.3020C>G (p.Ser1007Cys) c.2921C>G (p.Ser974Cys) c.2102C>G (p.Ser701Cys) n.3653C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51941203G= | CA2091559586 | ATP7B | c.*1084C= (n.*1084C=) c.*2178C= (n.*2178C=) c.2813C= (p.Ser938=) c.3434C= (p.Ser1145=) c.3101C= (p.Ser1034=) c.3182C= (p.Ser1061=) c.3200C= (p.Ser1067=) n.3573C= n.3797C= c.2369C= (p.Ser790=) c.2144C= (p.Ser715=) c.3239C= (p.Ser1080=) c.1212C= c.*535C= (n.*535C=) n.4178C= n.2779C= c.3290C= (p.Ser1097=) c.3338C= (p.Ser1113=) c.3398C= (p.Ser1133=) c.2948C= (p.Ser983=) c.1250C= (p.Ser417=) c.1067C= (p.Ser356=) c.3299C= (p.Ser1100=) c.3251C= (p.Ser1084=) c.3020C= (p.Ser1007=) c.2921C= (p.Ser974=) c.2102C= (p.Ser701=) n.3653C= | |
13 | g.51941203G>T | CA388026729 | ATP7B | c.*1084C>A (n.*1084C>A) c.*2178C>A (n.*2178C>A) c.2813C>A (p.Ser938Tyr) c.3434C>A (p.Ser1145Tyr) c.3101C>A (p.Ser1034Tyr) c.3182C>A (p.Ser1061Tyr) c.3200C>A (p.Ser1067Tyr) n.3573C>A n.3797C>A c.2369C>A (p.Ser790Tyr) c.2144C>A (p.Ser715Tyr) c.3239C>A (p.Ser1080Tyr) c.1212C>A c.*535C>A (n.*535C>A) n.4178C>A n.2779C>A c.3290C>A (p.Ser1097Tyr) c.3338C>A (p.Ser1113Tyr) c.3398C>A (p.Ser1133Tyr) c.2948C>A (p.Ser983Tyr) c.1250C>A (p.Ser417Tyr) c.1067C>A (p.Ser356Tyr) c.3299C>A (p.Ser1100Tyr) c.3251C>A (p.Ser1084Tyr) c.3020C>A (p.Ser1007Tyr) c.2921C>A (p.Ser974Tyr) c.2102C>A (p.Ser701Tyr) n.3653C>A | |
13 | g.51941203_51941206delinsGAGA | CA2091559588 | ATP7B | c.*1081_*1084delinsTCTC (n.*1081_*1084delinsTCTC) c.*2175_*2178delinsTCTC (n.*2175_*2178delinsTCTC) c.2810_2813delinsTCTC (p.Phe937=) c.3431_3434delinsTCTC (p.Phe1144=) c.3098_3101delinsTCTC (p.Phe1033=) c.3179_3182delinsTCTC (p.Phe1060=) c.3197_3200delinsTCTC (p.Phe1066=) n.3570_3573delinsTCTC n.3794_3797delinsTCTC c.2366_2369delinsTCTC (p.Phe789=) c.2141_2144delinsTCTC (p.Phe714=) c.3236_3239delinsTCTC (p.Phe1079=) c.1209_1212delinsTCTC c.*532_*535delinsTCTC (n.*532_*535delinsTCTC) n.4175_4178delinsTCTC n.2776_2779delinsTCTC c.3287_3290delinsTCTC (p.Phe1096=) c.3335_3338delinsTCTC (p.Phe1112=) c.3395_3398delinsTCTC (p.Phe1132=) c.2945_2948delinsTCTC (p.Phe982=) c.1247_1250delinsTCTC (p.Phe416=) c.1064_1067delinsTCTC (p.Phe355=) c.3296_3299delinsTCTC (p.Phe1099=) c.3248_3251delinsTCTC (p.Phe1083=) c.3017_3020delinsTCTC (p.Phe1006=) c.2918_2921delinsTCTC (p.Phe973=) c.2099_2102delinsTCTC (p.Phe700=) n.3650_3653delinsTCTC | |
13 | g.51941204A>C | CA388026732 | ATP7B | c.*1083T>G (n.*1083T>G) c.*2177T>G (n.*2177T>G) c.2812T>G (p.Ser938Ala) c.3433T>G (p.Ser1145Ala) c.3100T>G (p.Ser1034Ala) c.3181T>G (p.Ser1061Ala) c.3199T>G (p.Ser1067Ala) n.3572T>G n.3796T>G c.2368T>G (p.Ser790Ala) c.2143T>G (p.Ser715Ala) c.3238T>G (p.Ser1080Ala) c.1211T>G c.*534T>G (n.*534T>G) n.4177T>G n.2778T>G c.3289T>G (p.Ser1097Ala) c.3337T>G (p.Ser1113Ala) c.3397T>G (p.Ser1133Ala) c.2947T>G (p.Ser983Ala) c.1249T>G (p.Ser417Ala) c.1066T>G (p.Ser356Ala) c.3298T>G (p.Ser1100Ala) c.3250T>G (p.Ser1084Ala) c.3019T>G (p.Ser1007Ala) c.2920T>G (p.Ser974Ala) c.2101T>G (p.Ser701Ala) n.3652T>G | |
13 | g.51941204A>G | CA388026734 | ATP7B | c.*1083T>C (n.*1083T>C) c.*2177T>C (n.*2177T>C) c.2812T>C (p.Ser938Pro) c.3433T>C (p.Ser1145Pro) c.3100T>C (p.Ser1034Pro) c.3181T>C (p.Ser1061Pro) c.3199T>C (p.Ser1067Pro) n.3572T>C n.3796T>C c.2368T>C (p.Ser790Pro) c.2143T>C (p.Ser715Pro) c.3238T>C (p.Ser1080Pro) c.1211T>C c.*534T>C (n.*534T>C) n.4177T>C n.2778T>C c.3289T>C (p.Ser1097Pro) c.3337T>C (p.Ser1113Pro) c.3397T>C (p.Ser1133Pro) c.2947T>C (p.Ser983Pro) c.1249T>C (p.Ser417Pro) c.1066T>C (p.Ser356Pro) c.3298T>C (p.Ser1100Pro) c.3250T>C (p.Ser1084Pro) c.3019T>C (p.Ser1007Pro) c.2920T>C (p.Ser974Pro) c.2101T>C (p.Ser701Pro) n.3652T>C | |
13 | g.51941204A>T | CA388026736 | ATP7B | c.*1083T>A (n.*1083T>A) c.*2177T>A (n.*2177T>A) c.2812T>A (p.Ser938Thr) c.3433T>A (p.Ser1145Thr) c.3100T>A (p.Ser1034Thr) c.3181T>A (p.Ser1061Thr) c.3199T>A (p.Ser1067Thr) n.3572T>A n.3796T>A c.2368T>A (p.Ser790Thr) c.2143T>A (p.Ser715Thr) c.3238T>A (p.Ser1080Thr) c.1211T>A c.*534T>A (n.*534T>A) n.4177T>A n.2778T>A c.3289T>A (p.Ser1097Thr) c.3337T>A (p.Ser1113Thr) c.3397T>A (p.Ser1133Thr) c.2947T>A (p.Ser983Thr) c.1249T>A (p.Ser417Thr) c.1066T>A (p.Ser356Thr) c.3298T>A (p.Ser1100Thr) c.3250T>A (p.Ser1084Thr) c.3019T>A (p.Ser1007Thr) c.2920T>A (p.Ser974Thr) c.2101T>A (p.Ser701Thr) n.3652T>A | |
13 | g.51941206_51941208del | CA658823701 | ATP7B | c.*1081_*1083del (n.*1081_*1083del) c.*2175_*2177del (n.*2175_*2177del) c.2810_2812del (p.Phe937del) c.3431_3433del (p.Phe1144del) c.3098_3100del (p.Phe1033del) c.3179_3181del (p.Phe1060del) c.3197_3199del (p.Phe1066del) n.3570_3572del n.3794_3796del c.2366_2368del (p.Phe789del) c.2141_2143del (p.Phe714del) c.3236_3238del (p.Phe1079del) c.1209_1211del c.*532_*534del (n.*532_*534del) n.4175_4177del n.2776_2778del c.3287_3289del (p.Phe1096del) c.3335_3337del (p.Phe1112del) c.3395_3397del (p.Phe1132del) c.2945_2947del (p.Phe982del) c.1247_1249del (p.Phe416del) c.1064_1066del (p.Phe355del) c.3296_3298del (p.Phe1099del) c.3248_3250del (p.Phe1083del) c.3017_3019del (p.Phe1006del) c.2918_2920del (p.Phe973del) c.2099_2101del (p.Phe700del) n.3650_3652del | ClinVar dbSNP gnomAD v4 |
13 | g.51941205G>A | CA483894179 | ATP7B | c.*1082C>T (n.*1082C>T) c.*2176C>T (n.*2176C>T) c.2811C>T (p.Phe937=) c.3432C>T (p.Phe1144=) c.3099C>T (p.Phe1033=) c.3180C>T (p.Phe1060=) c.3198C>T (p.Phe1066=) n.3571C>T n.3795C>T c.2367C>T (p.Phe789=) c.2142C>T (p.Phe714=) c.3237C>T (p.Phe1079=) c.1210C>T c.*533C>T (n.*533C>T) n.4176C>T n.2777C>T c.3288C>T (p.Phe1096=) c.3336C>T (p.Phe1112=) c.3396C>T (p.Phe1132=) c.2946C>T (p.Phe982=) c.1248C>T (p.Phe416=) c.1065C>T (p.Phe355=) c.3297C>T (p.Phe1099=) c.3249C>T (p.Phe1083=) c.3018C>T (p.Phe1006=) c.2919C>T (p.Phe973=) c.2100C>T (p.Phe700=) n.3651C>T | |
13 | g.51941205G>C | CA388026739 | ATP7B | c.*1082C>G (n.*1082C>G) c.*2176C>G (n.*2176C>G) c.2811C>G (p.Phe937Leu) c.3432C>G (p.Phe1144Leu) c.3099C>G (p.Phe1033Leu) c.3180C>G (p.Phe1060Leu) c.3198C>G (p.Phe1066Leu) n.3571C>G n.3795C>G c.2367C>G (p.Phe789Leu) c.2142C>G (p.Phe714Leu) c.3237C>G (p.Phe1079Leu) c.1210C>G c.*533C>G (n.*533C>G) n.4176C>G n.2777C>G c.3288C>G (p.Phe1096Leu) c.3336C>G (p.Phe1112Leu) c.3396C>G (p.Phe1132Leu) c.2946C>G (p.Phe982Leu) c.1248C>G (p.Phe416Leu) c.1065C>G (p.Phe355Leu) c.3297C>G (p.Phe1099Leu) c.3249C>G (p.Phe1083Leu) c.3018C>G (p.Phe1006Leu) c.2919C>G (p.Phe973Leu) c.2100C>G (p.Phe700Leu) n.3651C>G | |
13 | g.51941205G>T | CA388026741 | ATP7B | c.*1082C>A (n.*1082C>A) c.*2176C>A (n.*2176C>A) c.2811C>A (p.Phe937Leu) c.3432C>A (p.Phe1144Leu) c.3099C>A (p.Phe1033Leu) c.3180C>A (p.Phe1060Leu) c.3198C>A (p.Phe1066Leu) n.3571C>A n.3795C>A c.2367C>A (p.Phe789Leu) c.2142C>A (p.Phe714Leu) c.3237C>A (p.Phe1079Leu) c.1210C>A c.*533C>A (n.*533C>A) n.4176C>A n.2777C>A c.3288C>A (p.Phe1096Leu) c.3336C>A (p.Phe1112Leu) c.3396C>A (p.Phe1132Leu) c.2946C>A (p.Phe982Leu) c.1248C>A (p.Phe416Leu) c.1065C>A (p.Phe355Leu) c.3297C>A (p.Phe1099Leu) c.3249C>A (p.Phe1083Leu) c.3018C>A (p.Phe1006Leu) c.2919C>A (p.Phe973Leu) c.2100C>A (p.Phe700Leu) n.3651C>A | |
13 | g.51941206A>C | CA388026743 | ATP7B | c.*1081T>G (n.*1081T>G) c.*2175T>G (n.*2175T>G) c.2810T>G (p.Phe937Cys) c.3431T>G (p.Phe1144Cys) c.3098T>G (p.Phe1033Cys) c.3179T>G (p.Phe1060Cys) c.3197T>G (p.Phe1066Cys) n.3570T>G n.3794T>G c.2366T>G (p.Phe789Cys) c.2141T>G (p.Phe714Cys) c.3236T>G (p.Phe1079Cys) c.1209T>G c.*532T>G (n.*532T>G) n.4175T>G n.2776T>G c.3287T>G (p.Phe1096Cys) c.3335T>G (p.Phe1112Cys) c.3395T>G (p.Phe1132Cys) c.2945T>G (p.Phe982Cys) c.1247T>G (p.Phe416Cys) c.1064T>G (p.Phe355Cys) c.3296T>G (p.Phe1099Cys) c.3248T>G (p.Phe1083Cys) c.3017T>G (p.Phe1006Cys) c.2918T>G (p.Phe973Cys) c.2099T>G (p.Phe700Cys) n.3650T>G | |
13 | g.51941206A>G | CA388026746 | ATP7B | c.*1081T>C (n.*1081T>C) c.*2175T>C (n.*2175T>C) c.2810T>C (p.Phe937Ser) c.3431T>C (p.Phe1144Ser) c.3098T>C (p.Phe1033Ser) c.3179T>C (p.Phe1060Ser) c.3197T>C (p.Phe1066Ser) n.3570T>C n.3794T>C c.2366T>C (p.Phe789Ser) c.2141T>C (p.Phe714Ser) c.3236T>C (p.Phe1079Ser) c.1209T>C c.*532T>C (n.*532T>C) n.4175T>C n.2776T>C c.3287T>C (p.Phe1096Ser) c.3335T>C (p.Phe1112Ser) c.3395T>C (p.Phe1132Ser) c.2945T>C (p.Phe982Ser) c.1247T>C (p.Phe416Ser) c.1064T>C (p.Phe355Ser) c.3296T>C (p.Phe1099Ser) c.3248T>C (p.Phe1083Ser) c.3017T>C (p.Phe1006Ser) c.2918T>C (p.Phe973Ser) c.2099T>C (p.Phe700Ser) n.3650T>C | |
13 | g.51941206A>T | CA388026747 | ATP7B | c.*1081T>A (n.*1081T>A) c.*2175T>A (n.*2175T>A) c.2810T>A (p.Phe937Tyr) c.3431T>A (p.Phe1144Tyr) c.3098T>A (p.Phe1033Tyr) c.3179T>A (p.Phe1060Tyr) c.3197T>A (p.Phe1066Tyr) n.3570T>A n.3794T>A c.2366T>A (p.Phe789Tyr) c.2141T>A (p.Phe714Tyr) c.3236T>A (p.Phe1079Tyr) c.1209T>A c.*532T>A (n.*532T>A) n.4175T>A n.2776T>A c.3287T>A (p.Phe1096Tyr) c.3335T>A (p.Phe1112Tyr) c.3395T>A (p.Phe1132Tyr) c.2945T>A (p.Phe982Tyr) c.1247T>A (p.Phe416Tyr) c.1064T>A (p.Phe355Tyr) c.3296T>A (p.Phe1099Tyr) c.3248T>A (p.Phe1083Tyr) c.3017T>A (p.Phe1006Tyr) c.2918T>A (p.Phe973Tyr) c.2099T>A (p.Phe700Tyr) n.3650T>A | |
13 | g.51941207A>C | CA388026751 | ATP7B | c.*1080T>G (n.*1080T>G) c.*2174T>G (n.*2174T>G) c.2809T>G (p.Phe937Val) c.3430T>G (p.Phe1144Val) c.3097T>G (p.Phe1033Val) c.3178T>G (p.Phe1060Val) c.3196T>G (p.Phe1066Val) n.3569T>G n.3793T>G c.2365T>G (p.Phe789Val) c.2140T>G (p.Phe714Val) c.3235T>G (p.Phe1079Val) c.1208T>G c.*531T>G (n.*531T>G) n.4174T>G n.2775T>G c.3286T>G (p.Phe1096Val) c.3334T>G (p.Phe1112Val) c.3394T>G (p.Phe1132Val) c.2944T>G (p.Phe982Val) c.1246T>G (p.Phe416Val) c.1063T>G (p.Phe355Val) c.3295T>G (p.Phe1099Val) c.3247T>G (p.Phe1083Val) c.3016T>G (p.Phe1006Val) c.2917T>G (p.Phe973Val) c.2098T>G (p.Phe700Val) n.3649T>G | |
13 | g.51941207A>G | CA388026749 | ATP7B | c.*1080T>C (n.*1080T>C) c.*2174T>C (n.*2174T>C) c.2809T>C (p.Phe937Leu) c.3430T>C (p.Phe1144Leu) c.3097T>C (p.Phe1033Leu) c.3178T>C (p.Phe1060Leu) c.3196T>C (p.Phe1066Leu) n.3569T>C n.3793T>C c.2365T>C (p.Phe789Leu) c.2140T>C (p.Phe714Leu) c.3235T>C (p.Phe1079Leu) c.1208T>C c.*531T>C (n.*531T>C) n.4174T>C n.2775T>C c.3286T>C (p.Phe1096Leu) c.3334T>C (p.Phe1112Leu) c.3394T>C (p.Phe1132Leu) c.2944T>C (p.Phe982Leu) c.1246T>C (p.Phe416Leu) c.1063T>C (p.Phe355Leu) c.3295T>C (p.Phe1099Leu) c.3247T>C (p.Phe1083Leu) c.3016T>C (p.Phe1006Leu) c.2917T>C (p.Phe973Leu) c.2098T>C (p.Phe700Leu) n.3649T>C | |
13 | g.51941207A>T | CA388026748 | ATP7B | c.*1080T>A (n.*1080T>A) c.*2174T>A (n.*2174T>A) c.2809T>A (p.Phe937Ile) c.3430T>A (p.Phe1144Ile) c.3097T>A (p.Phe1033Ile) c.3178T>A (p.Phe1060Ile) c.3196T>A (p.Phe1066Ile) n.3569T>A n.3793T>A c.2365T>A (p.Phe789Ile) c.2140T>A (p.Phe714Ile) c.3235T>A (p.Phe1079Ile) c.1208T>A c.*531T>A (n.*531T>A) n.4174T>A n.2775T>A c.3286T>A (p.Phe1096Ile) c.3334T>A (p.Phe1112Ile) c.3394T>A (p.Phe1132Ile) c.2944T>A (p.Phe982Ile) c.1246T>A (p.Phe416Ile) c.1063T>A (p.Phe355Ile) c.3295T>A (p.Phe1099Ile) c.3247T>A (p.Phe1083Ile) c.3016T>A (p.Phe1006Ile) c.2917T>A (p.Phe973Ile) c.2098T>A (p.Phe700Ile) n.3649T>A | |
13 | g.51941208G>A | CA483894187 | ATP7B | c.*1079C>T (n.*1079C>T) c.*2173C>T (n.*2173C>T) c.2808C>T (p.Thr936=) c.3429C>T (p.Thr1143=) c.3096C>T (p.Thr1032=) c.3177C>T (p.Thr1059=) c.3195C>T (p.Thr1065=) n.3568C>T n.3792C>T c.2364C>T (p.Thr788=) c.2139C>T (p.Thr713=) c.3234C>T (p.Thr1078=) c.1207C>T c.*530C>T (n.*530C>T) n.4173C>T n.2774C>T c.3285C>T (p.Thr1095=) c.3333C>T (p.Thr1111=) c.3393C>T (p.Thr1131=) c.2943C>T (p.Thr981=) c.1245C>T (p.Thr415=) c.1062C>T (p.Thr354=) c.3294C>T (p.Thr1098=) c.3246C>T (p.Thr1082=) c.3015C>T (p.Thr1005=) c.2916C>T (p.Thr972=) c.2097C>T (p.Thr699=) n.3648C>T | ClinVar dbSNP |
13 | g.51941208G>C | CA483894189 | ATP7B | c.*1079C>G (n.*1079C>G) c.*2173C>G (n.*2173C>G) c.2808C>G (p.Thr936=) c.3429C>G (p.Thr1143=) c.3096C>G (p.Thr1032=) c.3177C>G (p.Thr1059=) c.3195C>G (p.Thr1065=) n.3568C>G n.3792C>G c.2364C>G (p.Thr788=) c.2139C>G (p.Thr713=) c.3234C>G (p.Thr1078=) c.1207C>G c.*530C>G (n.*530C>G) n.4173C>G n.2774C>G c.3285C>G (p.Thr1095=) c.3333C>G (p.Thr1111=) c.3393C>G (p.Thr1131=) c.2943C>G (p.Thr981=) c.1245C>G (p.Thr415=) c.1062C>G (p.Thr354=) c.3294C>G (p.Thr1098=) c.3246C>G (p.Thr1082=) c.3015C>G (p.Thr1005=) c.2916C>G (p.Thr972=) c.2097C>G (p.Thr699=) n.3648C>G | |
13 | g.51941208G>T | CA483894191 | ATP7B | c.*1079C>A (n.*1079C>A) c.*2173C>A (n.*2173C>A) c.2808C>A (p.Thr936=) c.3429C>A (p.Thr1143=) c.3096C>A (p.Thr1032=) c.3177C>A (p.Thr1059=) c.3195C>A (p.Thr1065=) n.3568C>A n.3792C>A c.2364C>A (p.Thr788=) c.2139C>A (p.Thr713=) c.3234C>A (p.Thr1078=) c.1207C>A c.*530C>A (n.*530C>A) n.4173C>A n.2774C>A c.3285C>A (p.Thr1095=) c.3333C>A (p.Thr1111=) c.3393C>A (p.Thr1131=) c.2943C>A (p.Thr981=) c.1245C>A (p.Thr415=) c.1062C>A (p.Thr354=) c.3294C>A (p.Thr1098=) c.3246C>A (p.Thr1082=) c.3015C>A (p.Thr1005=) c.2916C>A (p.Thr972=) c.2097C>A (p.Thr699=) n.3648C>A | |
13 | g.51941209G>A | CA388026753 | ATP7B | c.*1078C>T (n.*1078C>T) c.*2172C>T (n.*2172C>T) c.2807C>T (p.Thr936Ile) c.3428C>T (p.Thr1143Ile) c.3095C>T (p.Thr1032Ile) c.3176C>T (p.Thr1059Ile) c.3194C>T (p.Thr1065Ile) n.3567C>T n.3791C>T c.2363C>T (p.Thr788Ile) c.2138C>T (p.Thr713Ile) c.3233C>T (p.Thr1078Ile) c.1206C>T c.*529C>T (n.*529C>T) n.4172C>T n.2773C>T c.3284C>T (p.Thr1095Ile) c.3332C>T (p.Thr1111Ile) c.3392C>T (p.Thr1131Ile) c.2942C>T (p.Thr981Ile) c.1244C>T (p.Thr415Ile) c.1061C>T (p.Thr354Ile) c.3293C>T (p.Thr1098Ile) c.3245C>T (p.Thr1082Ile) c.3014C>T (p.Thr1005Ile) c.2915C>T (p.Thr972Ile) c.2096C>T (p.Thr699Ile) n.3647C>T | |
13 | g.51941209G>C | CA388026754 | ATP7B | c.*1078C>G (n.*1078C>G) c.*2172C>G (n.*2172C>G) c.2807C>G (p.Thr936Ser) c.3428C>G (p.Thr1143Ser) c.3095C>G (p.Thr1032Ser) c.3176C>G (p.Thr1059Ser) c.3194C>G (p.Thr1065Ser) n.3567C>G n.3791C>G c.2363C>G (p.Thr788Ser) c.2138C>G (p.Thr713Ser) c.3233C>G (p.Thr1078Ser) c.1206C>G c.*529C>G (n.*529C>G) n.4172C>G n.2773C>G c.3284C>G (p.Thr1095Ser) c.3332C>G (p.Thr1111Ser) c.3392C>G (p.Thr1131Ser) c.2942C>G (p.Thr981Ser) c.1244C>G (p.Thr415Ser) c.1061C>G (p.Thr354Ser) c.3293C>G (p.Thr1098Ser) c.3245C>G (p.Thr1082Ser) c.3014C>G (p.Thr1005Ser) c.2915C>G (p.Thr972Ser) c.2096C>G (p.Thr699Ser) n.3647C>G | |
13 | g.51941209G= | CA2091559594 | ATP7B | c.*1078C= (n.*1078C=) c.*2172C= (n.*2172C=) c.2807C= (p.Thr936=) c.3428C= (p.Thr1143=) c.3095C= (p.Thr1032=) c.3176C= (p.Thr1059=) c.3194C= (p.Thr1065=) n.3567C= n.3791C= c.2363C= (p.Thr788=) c.2138C= (p.Thr713=) c.3233C= (p.Thr1078=) c.1206C= c.*529C= (n.*529C=) n.4172C= n.2773C= c.3284C= (p.Thr1095=) c.3332C= (p.Thr1111=) c.3392C= (p.Thr1131=) c.2942C= (p.Thr981=) c.1244C= (p.Thr415=) c.1061C= (p.Thr354=) c.3293C= (p.Thr1098=) c.3245C= (p.Thr1082=) c.3014C= (p.Thr1005=) c.2915C= (p.Thr972=) c.2096C= (p.Thr699=) n.3647C= | |
13 | g.51941209G>T | CA171317 | ATP7B | c.*1078C>A (n.*1078C>A) c.*2172C>A (n.*2172C>A) c.2807C>A (p.Thr936Asn) c.3428C>A (p.Thr1143Asn) c.3095C>A (p.Thr1032Asn) c.3176C>A (p.Thr1059Asn) c.3194C>A (p.Thr1065Asn) n.3567C>A n.3791C>A c.2363C>A (p.Thr788Asn) c.2138C>A (p.Thr713Asn) c.3233C>A (p.Thr1078Asn) c.1206C>A c.*529C>A (n.*529C>A) n.4172C>A n.2773C>A c.3284C>A (p.Thr1095Asn) c.3332C>A (p.Thr1111Asn) c.3392C>A (p.Thr1131Asn) c.2942C>A (p.Thr981Asn) c.1244C>A (p.Thr415Asn) c.1061C>A (p.Thr354Asn) c.3293C>A (p.Thr1098Asn) c.3245C>A (p.Thr1082Asn) c.3014C>A (p.Thr1005Asn) c.2915C>A (p.Thr972Asn) c.2096C>A (p.Thr699Asn) n.3647C>A | ClinVar dbSNP |
13 | g.51941210T>A | CA388026755 | ATP7B | c.*1077A>T (n.*1077A>T) c.*2171A>T (n.*2171A>T) c.2806A>T (p.Thr936Ser) c.3427A>T (p.Thr1143Ser) c.3094A>T (p.Thr1032Ser) c.3175A>T (p.Thr1059Ser) c.3193A>T (p.Thr1065Ser) n.3566A>T n.3790A>T c.2362A>T (p.Thr788Ser) c.2137A>T (p.Thr713Ser) c.3232A>T (p.Thr1078Ser) c.1205A>T c.*528A>T (n.*528A>T) n.4171A>T n.2772A>T c.3283A>T (p.Thr1095Ser) c.3331A>T (p.Thr1111Ser) c.3391A>T (p.Thr1131Ser) c.2941A>T (p.Thr981Ser) c.1243A>T (p.Thr415Ser) c.1060A>T (p.Thr354Ser) c.3292A>T (p.Thr1098Ser) c.3244A>T (p.Thr1082Ser) c.3013A>T (p.Thr1005Ser) c.2914A>T (p.Thr972Ser) c.2095A>T (p.Thr699Ser) n.3646A>T | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51941210T>C | CA388026757 | ATP7B | c.*1077A>G (n.*1077A>G) c.*2171A>G (n.*2171A>G) c.2806A>G (p.Thr936Ala) c.3427A>G (p.Thr1143Ala) c.3094A>G (p.Thr1032Ala) c.3175A>G (p.Thr1059Ala) c.3193A>G (p.Thr1065Ala) n.3566A>G n.3790A>G c.2362A>G (p.Thr788Ala) c.2137A>G (p.Thr713Ala) c.3232A>G (p.Thr1078Ala) c.1205A>G c.*528A>G (n.*528A>G) n.4171A>G n.2772A>G c.3283A>G (p.Thr1095Ala) c.3331A>G (p.Thr1111Ala) c.3391A>G (p.Thr1131Ala) c.2941A>G (p.Thr981Ala) c.1243A>G (p.Thr415Ala) c.1060A>G (p.Thr354Ala) c.3292A>G (p.Thr1098Ala) c.3244A>G (p.Thr1082Ala) c.3013A>G (p.Thr1005Ala) c.2914A>G (p.Thr972Ala) c.2095A>G (p.Thr699Ala) n.3646A>G | |
13 | g.51941210T>G | CA388026762 | ATP7B | c.*1077A>C (n.*1077A>C) c.*2171A>C (n.*2171A>C) c.2806A>C (p.Thr936Pro) c.3427A>C (p.Thr1143Pro) c.3094A>C (p.Thr1032Pro) c.3175A>C (p.Thr1059Pro) c.3193A>C (p.Thr1065Pro) n.3566A>C n.3790A>C c.2362A>C (p.Thr788Pro) c.2137A>C (p.Thr713Pro) c.3232A>C (p.Thr1078Pro) c.1205A>C c.*528A>C (n.*528A>C) n.4171A>C n.2772A>C c.3283A>C (p.Thr1095Pro) c.3331A>C (p.Thr1111Pro) c.3391A>C (p.Thr1131Pro) c.2941A>C (p.Thr981Pro) c.1243A>C (p.Thr415Pro) c.1060A>C (p.Thr354Pro) c.3292A>C (p.Thr1098Pro) c.3244A>C (p.Thr1082Pro) c.3013A>C (p.Thr1005Pro) c.2914A>C (p.Thr972Pro) c.2095A>C (p.Thr699Pro) n.3646A>C | |
13 | g.51941210T= | CA2091559598 | ATP7B | c.*1077A= (n.*1077A=) c.*2171A= (n.*2171A=) c.2806A= (p.Thr936=) c.3427A= (p.Thr1143=) c.3094A= (p.Thr1032=) c.3175A= (p.Thr1059=) c.3193A= (p.Thr1065=) n.3566A= n.3790A= c.2362A= (p.Thr788=) c.2137A= (p.Thr713=) c.3232A= (p.Thr1078=) c.1205A= c.*528A= (n.*528A=) n.4171A= n.2772A= c.3283A= (p.Thr1095=) c.3331A= (p.Thr1111=) c.3391A= (p.Thr1131=) c.2941A= (p.Thr981=) c.1243A= (p.Thr415=) c.1060A= (p.Thr354=) c.3292A= (p.Thr1098=) c.3244A= (p.Thr1082=) c.3013A= (p.Thr1005=) c.2914A= (p.Thr972=) c.2095A= (p.Thr699=) n.3646A= | |
13 | g.51941211C>A | CA250077293 | ATP7B | c.*1076G>T (n.*1076G>T) c.*2170G>T (n.*2170G>T) c.2805G>T (p.Gln935His) c.3426G>T (p.Gln1142His) c.3093G>T (p.Gln1031His) c.3174G>T (p.Gln1058His) c.3192G>T (p.Gln1064His) n.3565G>T n.3789G>T c.2361G>T (p.Gln787His) c.2136G>T (p.Gln712His) c.3231G>T (p.Gln1077His) c.1204G>T c.*527G>T (n.*527G>T) n.4170G>T n.2771G>T c.3282G>T (p.Gln1094His) c.3330G>T (p.Gln1110His) c.3390G>T (p.Gln1130His) c.2940G>T (p.Gln980His) c.1242G>T (p.Gln414His) c.1059G>T (p.Gln353His) c.3291G>T (p.Gln1097His) c.3243G>T (p.Gln1081His) c.3012G>T (p.Gln1004His) c.2913G>T (p.Gln971His) c.2094G>T (p.Gln698His) n.3645G>T | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51941211C= | CA2091559603 | ATP7B | c.*1076G= (n.*1076G=) c.*2170G= (n.*2170G=) c.2805G= (p.Gln935=) c.3426G= (p.Gln1142=) c.3093G= (p.Gln1031=) c.3174G= (p.Gln1058=) c.3192G= (p.Gln1064=) n.3565G= n.3789G= c.2361G= (p.Gln787=) c.2136G= (p.Gln712=) c.3231G= (p.Gln1077=) c.1204G= c.*527G= (n.*527G=) n.4170G= n.2771G= c.3282G= (p.Gln1094=) c.3330G= (p.Gln1110=) c.3390G= (p.Gln1130=) c.2940G= (p.Gln980=) c.1242G= (p.Gln414=) c.1059G= (p.Gln353=) c.3291G= (p.Gln1097=) c.3243G= (p.Gln1081=) c.3012G= (p.Gln1004=) c.2913G= (p.Gln971=) c.2094G= (p.Gln698=) n.3645G= | |
13 | g.51941211C>G | CA6988685 | ATP7B | c.*1076G>C (n.*1076G>C) c.*2170G>C (n.*2170G>C) c.2805G>C (p.Gln935His) c.3426G>C (p.Gln1142His) c.3093G>C (p.Gln1031His) c.3174G>C (p.Gln1058His) c.3192G>C (p.Gln1064His) n.3565G>C n.3789G>C c.2361G>C (p.Gln787His) c.2136G>C (p.Gln712His) c.3231G>C (p.Gln1077His) c.1204G>C c.*527G>C (n.*527G>C) n.4170G>C n.2771G>C c.3282G>C (p.Gln1094His) c.3330G>C (p.Gln1110His) c.3390G>C (p.Gln1130His) c.2940G>C (p.Gln980His) c.1242G>C (p.Gln414His) c.1059G>C (p.Gln353His) c.3291G>C (p.Gln1097His) c.3243G>C (p.Gln1081His) c.3012G>C (p.Gln1004His) c.2913G>C (p.Gln971His) c.2094G>C (p.Gln698His) n.3645G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51941211C>T | CA483894199 | ATP7B | c.*1076G>A (n.*1076G>A) c.*2170G>A (n.*2170G>A) c.2805G>A (p.Gln935=) c.3426G>A (p.Gln1142=) c.3093G>A (p.Gln1031=) c.3174G>A (p.Gln1058=) c.3192G>A (p.Gln1064=) n.3565G>A n.3789G>A c.2361G>A (p.Gln787=) c.2136G>A (p.Gln712=) c.3231G>A (p.Gln1077=) c.1204G>A c.*527G>A (n.*527G>A) n.4170G>A n.2771G>A c.3282G>A (p.Gln1094=) c.3330G>A (p.Gln1110=) c.3390G>A (p.Gln1130=) c.2940G>A (p.Gln980=) c.1242G>A (p.Gln414=) c.1059G>A (p.Gln353=) c.3291G>A (p.Gln1097=) c.3243G>A (p.Gln1081=) c.3012G>A (p.Gln1004=) c.2913G>A (p.Gln971=) c.2094G>A (p.Gln698=) n.3645G>A | |
13 | g.51941212T>A | CA388026776 | ATP7B | c.*1075A>T (n.*1075A>T) c.*2169A>T (n.*2169A>T) c.2804A>T (p.Gln935Leu) c.3425A>T (p.Gln1142Leu) c.3092A>T (p.Gln1031Leu) c.3173A>T (p.Gln1058Leu) c.3191A>T (p.Gln1064Leu) n.3564A>T n.3788A>T c.2360A>T (p.Gln787Leu) c.2135A>T (p.Gln712Leu) c.3230A>T (p.Gln1077Leu) c.1203A>T c.*526A>T (n.*526A>T) n.4169A>T n.2770A>T c.3281A>T (p.Gln1094Leu) c.3329A>T (p.Gln1110Leu) c.3389A>T (p.Gln1130Leu) c.2939A>T (p.Gln980Leu) c.1241A>T (p.Gln414Leu) c.1058A>T (p.Gln353Leu) c.3290A>T (p.Gln1097Leu) c.3242A>T (p.Gln1081Leu) c.3011A>T (p.Gln1004Leu) c.2912A>T (p.Gln971Leu) c.2093A>T (p.Gln698Leu) n.3644A>T | |
13 | g.51941212T>C | CA388026777 | ATP7B | c.*1075A>G (n.*1075A>G) c.*2169A>G (n.*2169A>G) c.2804A>G (p.Gln935Arg) c.3425A>G (p.Gln1142Arg) c.3092A>G (p.Gln1031Arg) c.3173A>G (p.Gln1058Arg) c.3191A>G (p.Gln1064Arg) n.3564A>G n.3788A>G c.2360A>G (p.Gln787Arg) c.2135A>G (p.Gln712Arg) c.3230A>G (p.Gln1077Arg) c.1203A>G c.*526A>G (n.*526A>G) n.4169A>G n.2770A>G c.3281A>G (p.Gln1094Arg) c.3329A>G (p.Gln1110Arg) c.3389A>G (p.Gln1130Arg) c.2939A>G (p.Gln980Arg) c.1241A>G (p.Gln414Arg) c.1058A>G (p.Gln353Arg) c.3290A>G (p.Gln1097Arg) c.3242A>G (p.Gln1081Arg) c.3011A>G (p.Gln1004Arg) c.2912A>G (p.Gln971Arg) c.2093A>G (p.Gln698Arg) n.3644A>G | |
13 | g.51941212T>G | CA388026778 | ATP7B | c.*1075A>C (n.*1075A>C) c.*2169A>C (n.*2169A>C) c.2804A>C (p.Gln935Pro) c.3425A>C (p.Gln1142Pro) c.3092A>C (p.Gln1031Pro) c.3173A>C (p.Gln1058Pro) c.3191A>C (p.Gln1064Pro) n.3564A>C n.3788A>C c.2360A>C (p.Gln787Pro) c.2135A>C (p.Gln712Pro) c.3230A>C (p.Gln1077Pro) c.1203A>C c.*526A>C (n.*526A>C) n.4169A>C n.2770A>C c.3281A>C (p.Gln1094Pro) c.3329A>C (p.Gln1110Pro) c.3389A>C (p.Gln1130Pro) c.2939A>C (p.Gln980Pro) c.1241A>C (p.Gln414Pro) c.1058A>C (p.Gln353Pro) c.3290A>C (p.Gln1097Pro) c.3242A>C (p.Gln1081Pro) c.3011A>C (p.Gln1004Pro) c.2912A>C (p.Gln971Pro) c.2093A>C (p.Gln698Pro) n.3644A>C | |
13 | g.51941212T= | CA2091559606 | ATP7B | c.*1075A= (n.*1075A=) c.*2169A= (n.*2169A=) c.2804A= (p.Gln935=) c.3425A= (p.Gln1142=) c.3092A= (p.Gln1031=) c.3173A= (p.Gln1058=) c.3191A= (p.Gln1064=) n.3564A= n.3788A= c.2360A= (p.Gln787=) c.2135A= (p.Gln712=) c.3230A= (p.Gln1077=) c.1203A= c.*526A= (n.*526A=) n.4169A= n.2770A= c.3281A= (p.Gln1094=) c.3329A= (p.Gln1110=) c.3389A= (p.Gln1130=) c.2939A= (p.Gln980=) c.1241A= (p.Gln414=) c.1058A= (p.Gln353=) c.3290A= (p.Gln1097=) c.3242A= (p.Gln1081=) c.3011A= (p.Gln1004=) c.2912A= (p.Gln971=) c.2093A= (p.Gln698=) n.3644A= |