| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51941107_51941110del | CA2623119748 | ATP7B | c.*1182_*1185del (n.*1182_*1185del) c.*2276_*2279del (n.*2276_*2279del) c.2911_2914del (p.Thr971ProfsTer13) c.3532_3535del (p.Thr1178ProfsTer13) c.3199_3202del (p.Thr1067ProfsTer13) c.3280_3283del (p.Thr1094ProfsTer13) c.3298_3301del (p.Thr1100ProfsTer13) n.3671_3674del n.3895_3898del c.2467_2470del (p.Thr823ProfsTer13) c.2242_2245del (p.Thr748ProfsTer13) c.3337_3340del (p.Thr1113ProfsTer13) c.1310_1313del c.*633_*636del (n.*633_*636del) n.4276_4279del n.2877_2880del c.3388_3391del (p.Thr1130ProfsTer13) c.3436_3439del (p.Thr1146ProfsTer13) c.3496_3499del (p.Thr1166ProfsTer13) c.3046_3049del (p.Thr1016ProfsTer13) c.1348_1351del (p.Thr450ProfsTer13) c.1165_1168del (p.Thr389ProfsTer13) c.3397_3400del (p.Thr1133ProfsTer13) c.3349_3352del (p.Thr1117ProfsTer13) c.3118_3121del (p.Thr1040ProfsTer13) c.3019_3022del (p.Thr1007ProfsTer13) c.2200_2203del (p.Thr734ProfsTer13) n.3751_3754del | gnomAD v4 |
| 13 | g.51941108G>A | CA16041665 | ATP7B | c.*1179C>T (n.*1179C>T) c.*2273C>T (n.*2273C>T) c.2908C>T (p.Gln970Ter) c.3529C>T (p.Gln1177Ter) c.3196C>T (p.Gln1066Ter) c.3277C>T (p.Gln1093Ter) c.3295C>T (p.Gln1099Ter) n.3668C>T n.3892C>T c.2464C>T (p.Gln822Ter) c.2239C>T (p.Gln747Ter) c.3334C>T (p.Gln1112Ter) c.1307C>T c.*630C>T (n.*630C>T) n.4273C>T n.2874C>T c.3385C>T (p.Gln1129Ter) c.3433C>T (p.Gln1145Ter) c.3493C>T (p.Gln1165Ter) c.3043C>T (p.Gln1015Ter) c.1345C>T (p.Gln449Ter) c.1162C>T (p.Gln388Ter) c.3394C>T (p.Gln1132Ter) c.3346C>T (p.Gln1116Ter) c.3115C>T (p.Gln1039Ter) c.3016C>T (p.Gln1006Ter) c.2197C>T (p.Gln733Ter) n.3748C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51941108G>C | CA388026054 | ATP7B | c.*1179C>G (n.*1179C>G) c.*2273C>G (n.*2273C>G) c.2908C>G (p.Gln970Glu) c.3529C>G (p.Gln1177Glu) c.3196C>G (p.Gln1066Glu) c.3277C>G (p.Gln1093Glu) c.3295C>G (p.Gln1099Glu) n.3668C>G n.3892C>G c.2464C>G (p.Gln822Glu) c.2239C>G (p.Gln747Glu) c.3334C>G (p.Gln1112Glu) c.1307C>G c.*630C>G (n.*630C>G) n.4273C>G n.2874C>G c.3385C>G (p.Gln1129Glu) c.3433C>G (p.Gln1145Glu) c.3493C>G (p.Gln1165Glu) c.3043C>G (p.Gln1015Glu) c.1345C>G (p.Gln449Glu) c.1162C>G (p.Gln388Glu) c.3394C>G (p.Gln1132Glu) c.3346C>G (p.Gln1116Glu) c.3115C>G (p.Gln1039Glu) c.3016C>G (p.Gln1006Glu) c.2197C>G (p.Gln733Glu) n.3748C>G | |
| 13 | g.51941108G= | CA2091559369 | ATP7B | c.*1179C= (n.*1179C=) c.*2273C= (n.*2273C=) c.2908C= (p.Gln970=) c.3529C= (p.Gln1177=) c.3196C= (p.Gln1066=) c.3277C= (p.Gln1093=) c.3295C= (p.Gln1099=) n.3668C= n.3892C= c.2464C= (p.Gln822=) c.2239C= (p.Gln747=) c.3334C= (p.Gln1112=) c.1307C= c.*630C= (n.*630C=) n.4273C= n.2874C= c.3385C= (p.Gln1129=) c.3433C= (p.Gln1145=) c.3493C= (p.Gln1165=) c.3043C= (p.Gln1015=) c.1345C= (p.Gln449=) c.1162C= (p.Gln388=) c.3394C= (p.Gln1132=) c.3346C= (p.Gln1116=) c.3115C= (p.Gln1039=) c.3016C= (p.Gln1006=) c.2197C= (p.Gln733=) n.3748C= | |
| 13 | g.51941108G>T | CA388026057 | ATP7B | c.*1179C>A (n.*1179C>A) c.*2273C>A (n.*2273C>A) c.2908C>A (p.Gln970Lys) c.3529C>A (p.Gln1177Lys) c.3196C>A (p.Gln1066Lys) c.3277C>A (p.Gln1093Lys) c.3295C>A (p.Gln1099Lys) n.3668C>A n.3892C>A c.2464C>A (p.Gln822Lys) c.2239C>A (p.Gln747Lys) c.3334C>A (p.Gln1112Lys) c.1307C>A c.*630C>A (n.*630C>A) n.4273C>A n.2874C>A c.3385C>A (p.Gln1129Lys) c.3433C>A (p.Gln1145Lys) c.3493C>A (p.Gln1165Lys) c.3043C>A (p.Gln1015Lys) c.1345C>A (p.Gln449Lys) c.1162C>A (p.Gln388Lys) c.3394C>A (p.Gln1132Lys) c.3346C>A (p.Gln1116Lys) c.3115C>A (p.Gln1039Lys) c.3016C>A (p.Gln1006Lys) c.2197C>A (p.Gln733Lys) n.3748C>A | |
| 13 | g.51941109T>A | CA483893941 | ATP7B | c.*1178A>T (n.*1178A>T) c.*2272A>T (n.*2272A>T) c.2907A>T (p.Gly969=) c.3528A>T (p.Gly1176=) c.3195A>T (p.Gly1065=) c.3276A>T (p.Gly1092=) c.3294A>T (p.Gly1098=) n.3667A>T n.3891A>T c.2463A>T (p.Gly821=) c.2238A>T (p.Gly746=) c.3333A>T (p.Gly1111=) c.1306A>T c.*629A>T (n.*629A>T) n.4272A>T n.2873A>T c.3384A>T (p.Gly1128=) c.3432A>T (p.Gly1144=) c.3492A>T (p.Gly1164=) c.3042A>T (p.Gly1014=) c.1344A>T (p.Gly448=) c.1161A>T (p.Gly387=) c.3393A>T (p.Gly1131=) c.3345A>T (p.Gly1115=) c.3114A>T (p.Gly1038=) c.3015A>T (p.Gly1005=) c.2196A>T (p.Gly732=) n.3747A>T | |
| 13 | g.51941109T>C | CA483893942 | ATP7B | c.*1178A>G (n.*1178A>G) c.*2272A>G (n.*2272A>G) c.2907A>G (p.Gly969=) c.3528A>G (p.Gly1176=) c.3195A>G (p.Gly1065=) c.3276A>G (p.Gly1092=) c.3294A>G (p.Gly1098=) n.3667A>G n.3891A>G c.2463A>G (p.Gly821=) c.2238A>G (p.Gly746=) c.3333A>G (p.Gly1111=) c.1306A>G c.*629A>G (n.*629A>G) n.4272A>G n.2873A>G c.3384A>G (p.Gly1128=) c.3432A>G (p.Gly1144=) c.3492A>G (p.Gly1164=) c.3042A>G (p.Gly1014=) c.1344A>G (p.Gly448=) c.1161A>G (p.Gly387=) c.3393A>G (p.Gly1131=) c.3345A>G (p.Gly1115=) c.3114A>G (p.Gly1038=) c.3015A>G (p.Gly1005=) c.2196A>G (p.Gly732=) n.3747A>G | |
| 13 | g.51941109T>G | CA483893943 | ATP7B | c.*1178A>C (n.*1178A>C) c.*2272A>C (n.*2272A>C) c.2907A>C (p.Gly969=) c.3528A>C (p.Gly1176=) c.3195A>C (p.Gly1065=) c.3276A>C (p.Gly1092=) c.3294A>C (p.Gly1098=) n.3667A>C n.3891A>C c.2463A>C (p.Gly821=) c.2238A>C (p.Gly746=) c.3333A>C (p.Gly1111=) c.1306A>C c.*629A>C (n.*629A>C) n.4272A>C n.2873A>C c.3384A>C (p.Gly1128=) c.3432A>C (p.Gly1144=) c.3492A>C (p.Gly1164=) c.3042A>C (p.Gly1014=) c.1344A>C (p.Gly448=) c.1161A>C (p.Gly387=) c.3393A>C (p.Gly1131=) c.3345A>C (p.Gly1115=) c.3114A>C (p.Gly1038=) c.3015A>C (p.Gly1005=) c.2196A>C (p.Gly732=) n.3747A>C | |
| 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.51941110C>A | CA388026069 | ATP7B | c.*1177G>T (n.*1177G>T) c.*2271G>T (n.*2271G>T) c.2906G>T (p.Gly969Val) c.3527G>T (p.Gly1176Val) c.3194G>T (p.Gly1065Val) c.3275G>T (p.Gly1092Val) c.3293G>T (p.Gly1098Val) n.3666G>T n.3890G>T c.2462G>T (p.Gly821Val) c.2237G>T (p.Gly746Val) c.3332G>T (p.Gly1111Val) c.1305G>T c.*628G>T (n.*628G>T) n.4271G>T n.2872G>T c.3383G>T (p.Gly1128Val) c.3431G>T (p.Gly1144Val) c.3491G>T (p.Gly1164Val) c.3041G>T (p.Gly1014Val) c.1343G>T (p.Gly448Val) c.1160G>T (p.Gly387Val) c.3392G>T (p.Gly1131Val) c.3344G>T (p.Gly1115Val) c.3113G>T (p.Gly1038Val) c.3014G>T (p.Gly1005Val) c.2195G>T (p.Gly732Val) n.3746G>T | |
| 13 | g.51941110C= | CA2091559371 | ATP7B | c.*1177G= (n.*1177G=) c.*2271G= (n.*2271G=) c.2906G= (p.Gly969=) c.3527G= (p.Gly1176=) c.3194G= (p.Gly1065=) c.3275G= (p.Gly1092=) c.3293G= (p.Gly1098=) n.3666G= n.3890G= c.2462G= (p.Gly821=) c.2237G= (p.Gly746=) c.3332G= (p.Gly1111=) c.1305G= c.*628G= (n.*628G=) n.4271G= n.2872G= c.3383G= (p.Gly1128=) c.3431G= (p.Gly1144=) c.3491G= (p.Gly1164=) c.3041G= (p.Gly1014=) c.1343G= (p.Gly448=) c.1160G= (p.Gly387=) c.3392G= (p.Gly1131=) c.3344G= (p.Gly1115=) c.3113G= (p.Gly1038=) c.3014G= (p.Gly1005=) c.2195G= (p.Gly732=) n.3746G= | |
| 13 | g.51941110C>G | CA388026063 | ATP7B | c.*1177G>C (n.*1177G>C) c.*2271G>C (n.*2271G>C) c.2906G>C (p.Gly969Ala) c.3527G>C (p.Gly1176Ala) c.3194G>C (p.Gly1065Ala) c.3275G>C (p.Gly1092Ala) c.3293G>C (p.Gly1098Ala) n.3666G>C n.3890G>C c.2462G>C (p.Gly821Ala) c.2237G>C (p.Gly746Ala) c.3332G>C (p.Gly1111Ala) c.1305G>C c.*628G>C (n.*628G>C) n.4271G>C n.2872G>C c.3383G>C (p.Gly1128Ala) c.3431G>C (p.Gly1144Ala) c.3491G>C (p.Gly1164Ala) c.3041G>C (p.Gly1014Ala) c.1343G>C (p.Gly448Ala) c.1160G>C (p.Gly387Ala) c.3392G>C (p.Gly1131Ala) c.3344G>C (p.Gly1115Ala) c.3113G>C (p.Gly1038Ala) c.3014G>C (p.Gly1005Ala) c.2195G>C (p.Gly732Ala) n.3746G>C | |
| 13 | g.51941110C>T | CA388026065 | ATP7B | c.*1177G>A (n.*1177G>A) c.*2271G>A (n.*2271G>A) c.2906G>A (p.Gly969Glu) c.3527G>A (p.Gly1176Glu) c.3194G>A (p.Gly1065Glu) c.3275G>A (p.Gly1092Glu) c.3293G>A (p.Gly1098Glu) n.3666G>A n.3890G>A c.2462G>A (p.Gly821Glu) c.2237G>A (p.Gly746Glu) c.3332G>A (p.Gly1111Glu) c.1305G>A c.*628G>A (n.*628G>A) n.4271G>A n.2872G>A c.3383G>A (p.Gly1128Glu) c.3431G>A (p.Gly1144Glu) c.3491G>A (p.Gly1164Glu) c.3041G>A (p.Gly1014Glu) c.1343G>A (p.Gly448Glu) c.1160G>A (p.Gly387Glu) c.3392G>A (p.Gly1131Glu) c.3344G>A (p.Gly1115Glu) c.3113G>A (p.Gly1038Glu) c.3014G>A (p.Gly1005Glu) c.2195G>A (p.Gly732Glu) n.3746G>A | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51941111C>A | CA270738 | ATP7B | c.*1176G>T (n.*1176G>T) c.*2270G>T (n.*2270G>T) c.2905G>T (p.Gly969Ter) c.3526G>T (p.Gly1176Ter) c.3193G>T (p.Gly1065Ter) c.3274G>T (p.Gly1092Ter) c.3292G>T (p.Gly1098Ter) n.3665G>T n.3889G>T c.2461G>T (p.Gly821Ter) c.2236G>T (p.Gly746Ter) c.3331G>T (p.Gly1111Ter) c.1304G>T c.*627G>T (n.*627G>T) n.4270G>T n.2871G>T c.3382G>T (p.Gly1128Ter) c.3430G>T (p.Gly1144Ter) c.3490G>T (p.Gly1164Ter) c.3040G>T (p.Gly1014Ter) c.1342G>T (p.Gly448Ter) c.1159G>T (p.Gly387Ter) c.3391G>T (p.Gly1131Ter) c.3343G>T (p.Gly1115Ter) c.3112G>T (p.Gly1038Ter) c.3013G>T (p.Gly1005Ter) c.2194G>T (p.Gly732Ter) n.3745G>T | dbSNP |
| 13 | g.51941111C= | CA2091559378 | ATP7B | c.*1176G= (n.*1176G=) c.*2270G= (n.*2270G=) c.2905G= (p.Gly969=) c.3526G= (p.Gly1176=) c.3193G= (p.Gly1065=) c.3274G= (p.Gly1092=) c.3292G= (p.Gly1098=) n.3665G= n.3889G= c.2461G= (p.Gly821=) c.2236G= (p.Gly746=) c.3331G= (p.Gly1111=) c.1304G= c.*627G= (n.*627G=) n.4270G= n.2871G= c.3382G= (p.Gly1128=) c.3430G= (p.Gly1144=) c.3490G= (p.Gly1164=) c.3040G= (p.Gly1014=) c.1342G= (p.Gly448=) c.1159G= (p.Gly387=) c.3391G= (p.Gly1131=) c.3343G= (p.Gly1115=) c.3112G= (p.Gly1038=) c.3013G= (p.Gly1005=) c.2194G= (p.Gly732=) n.3745G= | |
| 13 | g.51941111C>G | CA388026079 | ATP7B | c.*1176G>C (n.*1176G>C) c.*2270G>C (n.*2270G>C) c.2905G>C (p.Gly969Arg) c.3526G>C (p.Gly1176Arg) c.3193G>C (p.Gly1065Arg) c.3274G>C (p.Gly1092Arg) c.3292G>C (p.Gly1098Arg) n.3665G>C n.3889G>C c.2461G>C (p.Gly821Arg) c.2236G>C (p.Gly746Arg) c.3331G>C (p.Gly1111Arg) c.1304G>C c.*627G>C (n.*627G>C) n.4270G>C n.2871G>C c.3382G>C (p.Gly1128Arg) c.3430G>C (p.Gly1144Arg) c.3490G>C (p.Gly1164Arg) c.3040G>C (p.Gly1014Arg) c.1342G>C (p.Gly448Arg) c.1159G>C (p.Gly387Arg) c.3391G>C (p.Gly1131Arg) c.3343G>C (p.Gly1115Arg) c.3112G>C (p.Gly1038Arg) c.3013G>C (p.Gly1005Arg) c.2194G>C (p.Gly732Arg) n.3745G>C | |
| 13 | g.51941111C>T | CA351338 | ATP7B | c.*1176G>A (n.*1176G>A) c.*2270G>A (n.*2270G>A) c.2905G>A (p.Gly969Arg) c.3526G>A (p.Gly1176Arg) c.3193G>A (p.Gly1065Arg) c.3274G>A (p.Gly1092Arg) c.3292G>A (p.Gly1098Arg) n.3665G>A n.3889G>A c.2461G>A (p.Gly821Arg) c.2236G>A (p.Gly746Arg) c.3331G>A (p.Gly1111Arg) c.1304G>A c.*627G>A (n.*627G>A) n.4270G>A n.2871G>A c.3382G>A (p.Gly1128Arg) c.3430G>A (p.Gly1144Arg) c.3490G>A (p.Gly1164Arg) c.3040G>A (p.Gly1014Arg) c.1342G>A (p.Gly448Arg) c.1159G>A (p.Gly387Arg) c.3391G>A (p.Gly1131Arg) c.3343G>A (p.Gly1115Arg) c.3112G>A (p.Gly1038Arg) c.3013G>A (p.Gly1005Arg) c.2194G>A (p.Gly732Arg) n.3745G>A | ClinVar dbSNP |
| 13 | g.[51941111C>T;51941194A>G] | CA351339 | ATP7B | c.[*1093T>C;*1176G>A] (n.[*1093T>C;*1176G>A]) c.[*2187T>C;*2270G>A] (n.[*2187T>C;*2270G>A]) c.[2822T>C;2905G>A] (p.[Ile941Thr;Gly969Arg]) c.[3443T>C;3526G>A] (p.[Ile1148Thr;Gly1176Arg]) c.[3110T>C;3193G>A] (p.[Ile1037Thr;Gly1065Arg]) c.[3191T>C;3274G>A] (p.[Ile1064Thr;Gly1092Arg]) c.[3209T>C;3292G>A] (p.[Ile1070Thr;Gly1098Arg]) n.[3582T>C;3665G>A] n.[3806T>C;3889G>A] c.[2378T>C;2461G>A] (p.[Ile793Thr;Gly821Arg]) c.[2153T>C;2236G>A] (p.[Ile718Thr;Gly746Arg]) c.[3248T>C;3331G>A] (p.[Ile1083Thr;Gly1111Arg]) c.[1221T>C;1304G>A] c.[*544T>C;*627G>A] (n.[*544T>C;*627G>A]) n.[4187T>C;4270G>A] n.[2788T>C;2871G>A] c.[3299T>C;3382G>A] (p.[Ile1100Thr;Gly1128Arg]) c.[3347T>C;3430G>A] (p.[Ile1116Thr;Gly1144Arg]) c.[3407T>C;3490G>A] (p.[Ile1136Thr;Gly1164Arg]) c.[2957T>C;3040G>A] (p.[Ile986Thr;Gly1014Arg]) c.[1259T>C;1342G>A] (p.[Ile420Thr;Gly448Arg]) c.[1076T>C;1159G>A] (p.[Ile359Thr;Gly387Arg]) c.[3308T>C;3391G>A] (p.[Ile1103Thr;Gly1131Arg]) c.[3260T>C;3343G>A] (p.[Ile1087Thr;Gly1115Arg]) c.[3029T>C;3112G>A] (p.[Ile1010Thr;Gly1038Arg]) c.[2930T>C;3013G>A] (p.[Ile977Thr;Gly1005Arg]) c.[2111T>C;2194G>A] (p.[Ile704Thr;Gly732Arg]) n.[3662T>C;3745G>A] | ClinVar |
| 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 |