Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.51944204_51944205del | CA912974798 | ATP7B | c.*894-1648_*894-1647del (n.*894-1648_*894-1647del) c.*1894_*1895del (n.*1894_*1895del) c.2529_2530del (p.Leu844AlafsTer17) c.3150_3151del (p.Leu1051AlafsTer17) c.2817_2818del (p.Leu940AlafsTer17) c.2898_2899del (p.Leu967AlafsTer17) c.2916_2917del (p.Leu973AlafsTer17) n.3289_3290del n.3513_3514del c.2085_2086del (p.Leu696AlafsTer17) c.1860_1861del (p.Leu621AlafsTer17) c.2955_2956del (p.Leu986AlafsTer17) n.370_371del c.1022-1648_1022-1647del c.*251_*252del (n.*251_*252del) n.3894_3895del n.2495_2496del c.3006_3007del (p.Leu1003AlafsTer17) n.496_497del c.3054_3055del (p.Leu1019AlafsTer17) c.3114_3115del (p.Leu1039AlafsTer17) c.2664_2665del (p.Leu889AlafsTer17) c.966_967del (p.Leu323AlafsTer17) c.877-1648_877-1647del (n.877-1648_877-1647del) c.3015_3016del (p.Leu1006AlafsTer17) c.3061-1648_3061-1647del (n.3061-1648_3061-1647del) c.2736_2737del (p.Leu913AlafsTer17) c.2731-1648_2731-1647del (n.2731-1648_2731-1647del) c.1818_1819del (p.Leu607AlafsTer17) n.3369_3370del | |
13 | g.51944202T>A | CA483894709 | ATP7B | c.*894-1648A>T (n.*894-1648A>T) c.*1894A>T (n.*1894A>T) c.2529A>T (p.Thr843=) c.3150A>T (p.Thr1050=) c.2817A>T (p.Thr939=) c.2898A>T (p.Thr966=) c.2916A>T (p.Thr972=) n.3289A>T n.3513A>T c.2085A>T (p.Thr695=) c.1860A>T (p.Thr620=) c.2955A>T (p.Thr985=) n.370A>T c.1022-1648A>T c.*251A>T (n.*251A>T) n.3894A>T n.2495A>T c.3006A>T (p.Thr1002=) n.496A>T c.3054A>T (p.Thr1018=) c.3114A>T (p.Thr1038=) c.2664A>T (p.Thr888=) c.966A>T (p.Thr322=) c.877-1648A>T (n.877-1648A>T) c.3015A>T (p.Thr1005=) c.3061-1648A>T (n.3061-1648A>T) c.2736A>T (p.Thr912=) c.2731-1648A>T (n.2731-1648A>T) c.1818A>T (p.Thr606=) n.3369A>T | |
13 | g.51944202T>C | CA6988795 | ATP7B | c.*894-1648A>G (n.*894-1648A>G) c.*1894A>G (n.*1894A>G) c.2529A>G (p.Thr843=) c.3150A>G (p.Thr1050=) c.2817A>G (p.Thr939=) c.2898A>G (p.Thr966=) c.2916A>G (p.Thr972=) n.3289A>G n.3513A>G c.2085A>G (p.Thr695=) c.1860A>G (p.Thr620=) c.2955A>G (p.Thr985=) n.370A>G c.1022-1648A>G c.*251A>G (n.*251A>G) n.3894A>G n.2495A>G c.3006A>G (p.Thr1002=) n.496A>G c.3054A>G (p.Thr1018=) c.3114A>G (p.Thr1038=) c.2664A>G (p.Thr888=) c.966A>G (p.Thr322=) c.877-1648A>G (n.877-1648A>G) c.3015A>G (p.Thr1005=) c.3061-1648A>G (n.3061-1648A>G) c.2736A>G (p.Thr912=) c.2731-1648A>G (n.2731-1648A>G) c.1818A>G (p.Thr606=) n.3369A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944202T>G | CA483894710 | ATP7B | c.*894-1648A>C (n.*894-1648A>C) c.*1894A>C (n.*1894A>C) c.2529A>C (p.Thr843=) c.3150A>C (p.Thr1050=) c.2817A>C (p.Thr939=) c.2898A>C (p.Thr966=) c.2916A>C (p.Thr972=) n.3289A>C n.3513A>C c.2085A>C (p.Thr695=) c.1860A>C (p.Thr620=) c.2955A>C (p.Thr985=) n.370A>C c.1022-1648A>C c.*251A>C (n.*251A>C) n.3894A>C n.2495A>C c.3006A>C (p.Thr1002=) n.496A>C c.3054A>C (p.Thr1018=) c.3114A>C (p.Thr1038=) c.2664A>C (p.Thr888=) c.966A>C (p.Thr322=) c.877-1648A>C (n.877-1648A>C) c.3015A>C (p.Thr1005=) c.3061-1648A>C (n.3061-1648A>C) c.2736A>C (p.Thr912=) c.2731-1648A>C (n.2731-1648A>C) c.1818A>C (p.Thr606=) n.3369A>C | |
13 | g.51944202T= | CA2091563963 | ATP7B | c.*894-1648A= (n.*894-1648A=) c.*1894A= (n.*1894A=) c.2529A= (p.Thr843=) c.3150A= (p.Thr1050=) c.2817A= (p.Thr939=) c.2898A= (p.Thr966=) c.2916A= (p.Thr972=) n.3289A= n.3513A= c.2085A= (p.Thr695=) c.1860A= (p.Thr620=) c.2955A= (p.Thr985=) n.370A= c.1022-1648A= c.*251A= (n.*251A=) n.3894A= n.2495A= c.3006A= (p.Thr1002=) n.496A= c.3054A= (p.Thr1018=) c.3114A= (p.Thr1038=) c.2664A= (p.Thr888=) c.966A= (p.Thr322=) c.877-1648A= (n.877-1648A=) c.3015A= (p.Thr1005=) c.3061-1648A= (n.3061-1648A=) c.2736A= (p.Thr912=) c.2731-1648A= (n.2731-1648A=) c.1818A= (p.Thr606=) n.3369A= | |
13 | g.51944202dup | CA2842235516 | ATP7B | c.*894-1648dup (n.*894-1648dup) c.*1894dup (n.*1894dup) c.2529dup (p.Leu844ThrfsTer18) c.3150dup (p.Leu1051ThrfsTer18) c.2817dup (p.Leu940ThrfsTer18) c.2898dup (p.Leu967ThrfsTer18) c.2916dup (p.Leu973ThrfsTer18) n.3289dup n.3513dup c.2085dup (p.Leu696ThrfsTer18) c.1860dup (p.Leu621ThrfsTer18) c.2955dup (p.Leu986ThrfsTer18) n.370dup c.1022-1648dup c.*251dup (n.*251dup) n.3894dup n.2495dup c.3006dup (p.Leu1003ThrfsTer18) n.496dup c.3054dup (p.Leu1019ThrfsTer18) c.3114dup (p.Leu1039ThrfsTer18) c.2664dup (p.Leu889ThrfsTer18) c.966dup (p.Leu323ThrfsTer18) c.877-1648dup (n.877-1648dup) c.3015dup (p.Leu1006ThrfsTer18) c.3061-1648dup (n.3061-1648dup) c.2736dup (p.Leu913ThrfsTer18) c.2731-1648dup (n.2731-1648dup) c.1818dup (p.Leu607ThrfsTer18) n.3369dup | |
13 | g.51944203G>A | CA388030144 | ATP7B | c.*894-1649C>T (n.*894-1649C>T) c.*1893C>T (n.*1893C>T) c.2528C>T (p.Thr843Ile) c.3149C>T (p.Thr1050Ile) c.2816C>T (p.Thr939Ile) c.2897C>T (p.Thr966Ile) c.2915C>T (p.Thr972Ile) n.3288C>T n.3512C>T c.2084C>T (p.Thr695Ile) c.1859C>T (p.Thr620Ile) c.2954C>T (p.Thr985Ile) n.369C>T c.1022-1649C>T c.*250C>T (n.*250C>T) n.3893C>T n.2494C>T c.3005C>T (p.Thr1002Ile) n.495C>T c.3053C>T (p.Thr1018Ile) c.3113C>T (p.Thr1038Ile) c.2663C>T (p.Thr888Ile) c.965C>T (p.Thr322Ile) c.877-1649C>T (n.877-1649C>T) c.3014C>T (p.Thr1005Ile) c.3061-1649C>T (n.3061-1649C>T) c.2735C>T (p.Thr912Ile) c.2731-1649C>T (n.2731-1649C>T) c.1817C>T (p.Thr606Ile) n.3368C>T | |
13 | g.51944203G>C | CA388030142 | ATP7B | c.*894-1649C>G (n.*894-1649C>G) c.*1893C>G (n.*1893C>G) c.2528C>G (p.Thr843Arg) c.3149C>G (p.Thr1050Arg) c.2816C>G (p.Thr939Arg) c.2897C>G (p.Thr966Arg) c.2915C>G (p.Thr972Arg) n.3288C>G n.3512C>G c.2084C>G (p.Thr695Arg) c.1859C>G (p.Thr620Arg) c.2954C>G (p.Thr985Arg) n.369C>G c.1022-1649C>G c.*250C>G (n.*250C>G) n.3893C>G n.2494C>G c.3005C>G (p.Thr1002Arg) n.495C>G c.3053C>G (p.Thr1018Arg) c.3113C>G (p.Thr1038Arg) c.2663C>G (p.Thr888Arg) c.965C>G (p.Thr322Arg) c.877-1649C>G (n.877-1649C>G) c.3014C>G (p.Thr1005Arg) c.3061-1649C>G (n.3061-1649C>G) c.2735C>G (p.Thr912Arg) c.2731-1649C>G (n.2731-1649C>G) c.1817C>G (p.Thr606Arg) n.3368C>G | |
13 | g.51944203G>T | CA388030139 | ATP7B | c.*894-1649C>A (n.*894-1649C>A) c.*1893C>A (n.*1893C>A) c.2528C>A (p.Thr843Lys) c.3149C>A (p.Thr1050Lys) c.2816C>A (p.Thr939Lys) c.2897C>A (p.Thr966Lys) c.2915C>A (p.Thr972Lys) n.3288C>A n.3512C>A c.2084C>A (p.Thr695Lys) c.1859C>A (p.Thr620Lys) c.2954C>A (p.Thr985Lys) n.369C>A c.1022-1649C>A c.*250C>A (n.*250C>A) n.3893C>A n.2494C>A c.3005C>A (p.Thr1002Lys) n.495C>A c.3053C>A (p.Thr1018Lys) c.3113C>A (p.Thr1038Lys) c.2663C>A (p.Thr888Lys) c.965C>A (p.Thr322Lys) c.877-1649C>A (n.877-1649C>A) c.3014C>A (p.Thr1005Lys) c.3061-1649C>A (n.3061-1649C>A) c.2735C>A (p.Thr912Lys) c.2731-1649C>A (n.2731-1649C>A) c.1817C>A (p.Thr606Lys) n.3368C>A | |
13 | g.51944204T>A | CA388030146 | ATP7B | c.*894-1650A>T (n.*894-1650A>T) c.*1892A>T (n.*1892A>T) c.2527A>T (p.Thr843Ser) c.3148A>T (p.Thr1050Ser) c.2815A>T (p.Thr939Ser) c.2896A>T (p.Thr966Ser) c.2914A>T (p.Thr972Ser) n.3287A>T n.3511A>T c.2083A>T (p.Thr695Ser) c.1858A>T (p.Thr620Ser) c.2953A>T (p.Thr985Ser) n.368A>T c.1022-1650A>T c.*249A>T (n.*249A>T) n.3892A>T n.2493A>T c.3004A>T (p.Thr1002Ser) n.494A>T c.3052A>T (p.Thr1018Ser) c.3112A>T (p.Thr1038Ser) c.2662A>T (p.Thr888Ser) c.964A>T (p.Thr322Ser) c.877-1650A>T (n.877-1650A>T) c.3013A>T (p.Thr1005Ser) c.3061-1650A>T (n.3061-1650A>T) c.2734A>T (p.Thr912Ser) c.2731-1650A>T (n.2731-1650A>T) c.1816A>T (p.Thr606Ser) n.3367A>T | |
13 | g.51944204T>C | CA388030149 | ATP7B | c.*894-1650A>G (n.*894-1650A>G) c.*1892A>G (n.*1892A>G) c.2527A>G (p.Thr843Ala) c.3148A>G (p.Thr1050Ala) c.2815A>G (p.Thr939Ala) c.2896A>G (p.Thr966Ala) c.2914A>G (p.Thr972Ala) n.3287A>G n.3511A>G c.2083A>G (p.Thr695Ala) c.1858A>G (p.Thr620Ala) c.2953A>G (p.Thr985Ala) n.368A>G c.1022-1650A>G c.*249A>G (n.*249A>G) n.3892A>G n.2493A>G c.3004A>G (p.Thr1002Ala) n.494A>G c.3052A>G (p.Thr1018Ala) c.3112A>G (p.Thr1038Ala) c.2662A>G (p.Thr888Ala) c.964A>G (p.Thr322Ala) c.877-1650A>G (n.877-1650A>G) c.3013A>G (p.Thr1005Ala) c.3061-1650A>G (n.3061-1650A>G) c.2734A>G (p.Thr912Ala) c.2731-1650A>G (n.2731-1650A>G) c.1816A>G (p.Thr606Ala) n.3367A>G | gnomAD v4 |
13 | g.51944204T>G | CA388030147 | ATP7B | c.*894-1650A>C (n.*894-1650A>C) c.*1892A>C (n.*1892A>C) c.2527A>C (p.Thr843Pro) c.3148A>C (p.Thr1050Pro) c.2815A>C (p.Thr939Pro) c.2896A>C (p.Thr966Pro) c.2914A>C (p.Thr972Pro) n.3287A>C n.3511A>C c.2083A>C (p.Thr695Pro) c.1858A>C (p.Thr620Pro) c.2953A>C (p.Thr985Pro) n.368A>C c.1022-1650A>C c.*249A>C (n.*249A>C) n.3892A>C n.2493A>C c.3004A>C (p.Thr1002Pro) n.494A>C c.3052A>C (p.Thr1018Pro) c.3112A>C (p.Thr1038Pro) c.2662A>C (p.Thr888Pro) c.964A>C (p.Thr322Pro) c.877-1650A>C (n.877-1650A>C) c.3013A>C (p.Thr1005Pro) c.3061-1650A>C (n.3061-1650A>C) c.2734A>C (p.Thr912Pro) c.2731-1650A>C (n.2731-1650A>C) c.1816A>C (p.Thr606Pro) n.3367A>C | |
13 | g.51944204_51944205delinsTG | CA2091563969 | ATP7B | c.*894-1651_*894-1650delinsCA (n.*894-1651_*894-1650delinsCA) c.*1891_*1892delinsCA (n.*1891_*1892delinsCA) c.2526_2527delinsCA (p.Ala842=) c.3147_3148delinsCA (p.Ala1049=) c.2814_2815delinsCA (p.Ala938=) c.2895_2896delinsCA (p.Ala965=) c.2913_2914delinsCA (p.Ala971=) n.3286_3287delinsCA n.3510_3511delinsCA c.2082_2083delinsCA (p.Ala694=) c.1857_1858delinsCA (p.Ala619=) c.2952_2953delinsCA (p.Ala984=) n.367_368delinsCA c.1022-1651_1022-1650delinsCA c.*248_*249delinsCA (n.*248_*249delinsCA) n.3891_3892delinsCA n.2492_2493delinsCA c.3003_3004delinsCA (p.Ala1001=) n.493_494delinsCA c.3051_3052delinsCA (p.Ala1017=) c.3111_3112delinsCA (p.Ala1037=) c.2661_2662delinsCA (p.Ala887=) c.963_964delinsCA (p.Ala321=) c.877-1651_877-1650delinsCA (n.877-1651_877-1650delinsCA) c.3012_3013delinsCA (p.Ala1004=) c.3061-1651_3061-1650delinsCA (n.3061-1651_3061-1650delinsCA) c.2733_2734delinsCA (p.Ala911=) c.2731-1651_2731-1650delinsCA (n.2731-1651_2731-1650delinsCA) c.1815_1816delinsCA (p.Ala605=) n.3366_3367delinsCA | |
13 | g.51944205G>A | CA483894711 | ATP7B | c.*894-1651C>T (n.*894-1651C>T) c.*1891C>T (n.*1891C>T) c.2526C>T (p.Ala842=) c.3147C>T (p.Ala1049=) c.2814C>T (p.Ala938=) c.2895C>T (p.Ala965=) c.2913C>T (p.Ala971=) n.3286C>T n.3510C>T c.2082C>T (p.Ala694=) c.1857C>T (p.Ala619=) c.2952C>T (p.Ala984=) n.367C>T c.1022-1651C>T c.*248C>T (n.*248C>T) n.3891C>T n.2492C>T c.3003C>T (p.Ala1001=) n.493C>T c.3051C>T (p.Ala1017=) c.3111C>T (p.Ala1037=) c.2661C>T (p.Ala887=) c.963C>T (p.Ala321=) c.877-1651C>T (n.877-1651C>T) c.3012C>T (p.Ala1004=) c.3061-1651C>T (n.3061-1651C>T) c.2733C>T (p.Ala911=) c.2731-1651C>T (n.2731-1651C>T) c.1815C>T (p.Ala605=) n.3366C>T | |
13 | g.51944205G>C | CA483894712 | ATP7B | c.*894-1651C>G (n.*894-1651C>G) c.*1891C>G (n.*1891C>G) c.2526C>G (p.Ala842=) c.3147C>G (p.Ala1049=) c.2814C>G (p.Ala938=) c.2895C>G (p.Ala965=) c.2913C>G (p.Ala971=) n.3286C>G n.3510C>G c.2082C>G (p.Ala694=) c.1857C>G (p.Ala619=) c.2952C>G (p.Ala984=) n.367C>G c.1022-1651C>G c.*248C>G (n.*248C>G) n.3891C>G n.2492C>G c.3003C>G (p.Ala1001=) n.493C>G c.3051C>G (p.Ala1017=) c.3111C>G (p.Ala1037=) c.2661C>G (p.Ala887=) c.963C>G (p.Ala321=) c.877-1651C>G (n.877-1651C>G) c.3012C>G (p.Ala1004=) c.3061-1651C>G (n.3061-1651C>G) c.2733C>G (p.Ala911=) c.2731-1651C>G (n.2731-1651C>G) c.1815C>G (p.Ala605=) n.3366C>G | |
13 | g.51944205G>T | CA483894713 | ATP7B | c.*894-1651C>A (n.*894-1651C>A) c.*1891C>A (n.*1891C>A) c.2526C>A (p.Ala842=) c.3147C>A (p.Ala1049=) c.2814C>A (p.Ala938=) c.2895C>A (p.Ala965=) c.2913C>A (p.Ala971=) n.3286C>A n.3510C>A c.2082C>A (p.Ala694=) c.1857C>A (p.Ala619=) c.2952C>A (p.Ala984=) n.367C>A c.1022-1651C>A c.*248C>A (n.*248C>A) n.3891C>A n.2492C>A c.3003C>A (p.Ala1001=) n.493C>A c.3051C>A (p.Ala1017=) c.3111C>A (p.Ala1037=) c.2661C>A (p.Ala887=) c.963C>A (p.Ala321=) c.877-1651C>A (n.877-1651C>A) c.3012C>A (p.Ala1004=) c.3061-1651C>A (n.3061-1651C>A) c.2733C>A (p.Ala911=) c.2731-1651C>A (n.2731-1651C>A) c.1815C>A (p.Ala605=) n.3366C>A | |
13 | g.51944206del | CA6988796 | ATP7B | c.*894-1651del (n.*894-1651del) c.*1891del (n.*1891del) c.2526del (p.Thr843HisfsTer?) c.3147del (p.Thr1050HisfsTer?) c.2814del (p.Thr939HisfsTer?) c.2895del (p.Thr966HisfsTer?) c.2913del (p.Thr972HisfsTer?) n.3286del n.3510del c.2082del (p.Thr695HisfsTer?) c.1857del (p.Thr620HisfsTer?) c.2952del (p.Thr985HisfsTer?) n.367del c.1022-1651del c.*248del (n.*248del) n.3891del n.2492del c.3003del (p.Thr1002HisfsTer?) n.493del c.3051del (p.Thr1018HisfsTer?) c.3111del (p.Thr1038HisfsTer?) c.2661del (p.Thr888HisfsTer?) c.963del (p.Thr322HisfsTer?) c.877-1651del (n.877-1651del) c.3012del (p.Thr1005HisfsTer?) c.3061-1651del (n.3061-1651del) c.2733del (p.Thr912HisfsTer?) c.2731-1651del (n.2731-1651del) c.1815del (p.Thr606HisfsTer?) n.3366del | ClinVar dbSNP ExAC gnomAD v4 |
13 | g.51944206G>A | CA6988797 | ATP7B | c.*894-1652C>T (n.*894-1652C>T) c.*1890C>T (n.*1890C>T) c.2525C>T (p.Ala842Val) c.3146C>T (p.Ala1049Val) c.2813C>T (p.Ala938Val) c.2894C>T (p.Ala965Val) c.2912C>T (p.Ala971Val) n.3285C>T n.3509C>T c.2081C>T (p.Ala694Val) c.1856C>T (p.Ala619Val) c.2951C>T (p.Ala984Val) n.366C>T c.1022-1652C>T c.*247C>T (n.*247C>T) n.3890C>T n.2491C>T c.3002C>T (p.Ala1001Val) n.492C>T c.3050C>T (p.Ala1017Val) c.3110C>T (p.Ala1037Val) c.2660C>T (p.Ala887Val) c.962C>T (p.Ala321Val) c.877-1652C>T (n.877-1652C>T) c.3011C>T (p.Ala1004Val) c.3061-1652C>T (n.3061-1652C>T) c.2732C>T (p.Ala911Val) c.2731-1652C>T (n.2731-1652C>T) c.1814C>T (p.Ala605Val) n.3365C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944206G>C | CA388030157 | ATP7B | c.*894-1652C>G (n.*894-1652C>G) c.*1890C>G (n.*1890C>G) c.2525C>G (p.Ala842Gly) c.3146C>G (p.Ala1049Gly) c.2813C>G (p.Ala938Gly) c.2894C>G (p.Ala965Gly) c.2912C>G (p.Ala971Gly) n.3285C>G n.3509C>G c.2081C>G (p.Ala694Gly) c.1856C>G (p.Ala619Gly) c.2951C>G (p.Ala984Gly) n.366C>G c.1022-1652C>G c.*247C>G (n.*247C>G) n.3890C>G n.2491C>G c.3002C>G (p.Ala1001Gly) n.492C>G c.3050C>G (p.Ala1017Gly) c.3110C>G (p.Ala1037Gly) c.2660C>G (p.Ala887Gly) c.962C>G (p.Ala321Gly) c.877-1652C>G (n.877-1652C>G) c.3011C>G (p.Ala1004Gly) c.3061-1652C>G (n.3061-1652C>G) c.2732C>G (p.Ala911Gly) c.2731-1652C>G (n.2731-1652C>G) c.1814C>G (p.Ala605Gly) n.3365C>G | |
13 | g.51944206G= | CA2091563980 | ATP7B | c.*894-1652C= (n.*894-1652C=) c.*1890C= (n.*1890C=) c.2525C= (p.Ala842=) c.3146C= (p.Ala1049=) c.2813C= (p.Ala938=) c.2894C= (p.Ala965=) c.2912C= (p.Ala971=) n.3285C= n.3509C= c.2081C= (p.Ala694=) c.1856C= (p.Ala619=) c.2951C= (p.Ala984=) n.366C= c.1022-1652C= c.*247C= (n.*247C=) n.3890C= n.2491C= c.3002C= (p.Ala1001=) n.492C= c.3050C= (p.Ala1017=) c.3110C= (p.Ala1037=) c.2660C= (p.Ala887=) c.962C= (p.Ala321=) c.877-1652C= (n.877-1652C=) c.3011C= (p.Ala1004=) c.3061-1652C= (n.3061-1652C=) c.2732C= (p.Ala911=) c.2731-1652C= (n.2731-1652C=) c.1814C= (p.Ala605=) n.3365C= | |
13 | g.51944206G>T | CA388030159 | ATP7B | c.*894-1652C>A (n.*894-1652C>A) c.*1890C>A (n.*1890C>A) c.2525C>A (p.Ala842Asp) c.3146C>A (p.Ala1049Asp) c.2813C>A (p.Ala938Asp) c.2894C>A (p.Ala965Asp) c.2912C>A (p.Ala971Asp) n.3285C>A n.3509C>A c.2081C>A (p.Ala694Asp) c.1856C>A (p.Ala619Asp) c.2951C>A (p.Ala984Asp) n.366C>A c.1022-1652C>A c.*247C>A (n.*247C>A) n.3890C>A n.2491C>A c.3002C>A (p.Ala1001Asp) n.492C>A c.3050C>A (p.Ala1017Asp) c.3110C>A (p.Ala1037Asp) c.2660C>A (p.Ala887Asp) c.962C>A (p.Ala321Asp) c.877-1652C>A (n.877-1652C>A) c.3011C>A (p.Ala1004Asp) c.3061-1652C>A (n.3061-1652C>A) c.2732C>A (p.Ala911Asp) c.2731-1652C>A (n.2731-1652C>A) c.1814C>A (p.Ala605Asp) n.3365C>A | |
13 | g.51944207C>A | CA388030162 | ATP7B | c.*894-1653G>T (n.*894-1653G>T) c.*1889G>T (n.*1889G>T) c.2524G>T (p.Ala842Ser) c.3145G>T (p.Ala1049Ser) c.2812G>T (p.Ala938Ser) c.2893G>T (p.Ala965Ser) c.2911G>T (p.Ala971Ser) n.3284G>T n.3508G>T c.2080G>T (p.Ala694Ser) c.1855G>T (p.Ala619Ser) c.2950G>T (p.Ala984Ser) n.365G>T c.1022-1653G>T c.*246G>T (n.*246G>T) n.3889G>T n.2490G>T c.3001G>T (p.Ala1001Ser) n.491G>T c.3049G>T (p.Ala1017Ser) c.3109G>T (p.Ala1037Ser) c.2659G>T (p.Ala887Ser) c.961G>T (p.Ala321Ser) c.877-1653G>T (n.877-1653G>T) c.3010G>T (p.Ala1004Ser) c.3061-1653G>T (n.3061-1653G>T) c.2731G>T (p.Ala911Ser) c.2731-1653G>T (n.2731-1653G>T) c.1813G>T (p.Ala605Ser) n.3364G>T | |
13 | g.51944207C>G | CA388030166 | ATP7B | c.*894-1653G>C (n.*894-1653G>C) c.*1889G>C (n.*1889G>C) c.2524G>C (p.Ala842Pro) c.3145G>C (p.Ala1049Pro) c.2812G>C (p.Ala938Pro) c.2893G>C (p.Ala965Pro) c.2911G>C (p.Ala971Pro) n.3284G>C n.3508G>C c.2080G>C (p.Ala694Pro) c.1855G>C (p.Ala619Pro) c.2950G>C (p.Ala984Pro) n.365G>C c.1022-1653G>C c.*246G>C (n.*246G>C) n.3889G>C n.2490G>C c.3001G>C (p.Ala1001Pro) n.491G>C c.3049G>C (p.Ala1017Pro) c.3109G>C (p.Ala1037Pro) c.2659G>C (p.Ala887Pro) c.961G>C (p.Ala321Pro) c.877-1653G>C (n.877-1653G>C) c.3010G>C (p.Ala1004Pro) c.3061-1653G>C (n.3061-1653G>C) c.2731G>C (p.Ala911Pro) c.2731-1653G>C (n.2731-1653G>C) c.1813G>C (p.Ala605Pro) n.3364G>C | gnomAD v4 |
13 | g.51944207C>T | CA388030172 | ATP7B | c.*894-1653G>A (n.*894-1653G>A) c.*1889G>A (n.*1889G>A) c.2524G>A (p.Ala842Thr) c.3145G>A (p.Ala1049Thr) c.2812G>A (p.Ala938Thr) c.2893G>A (p.Ala965Thr) c.2911G>A (p.Ala971Thr) n.3284G>A n.3508G>A c.2080G>A (p.Ala694Thr) c.1855G>A (p.Ala619Thr) c.2950G>A (p.Ala984Thr) n.365G>A c.1022-1653G>A c.*246G>A (n.*246G>A) n.3889G>A n.2490G>A c.3001G>A (p.Ala1001Thr) n.491G>A c.3049G>A (p.Ala1017Thr) c.3109G>A (p.Ala1037Thr) c.2659G>A (p.Ala887Thr) c.961G>A (p.Ala321Thr) c.877-1653G>A (n.877-1653G>A) c.3010G>A (p.Ala1004Thr) c.3061-1653G>A (n.3061-1653G>A) c.2731G>A (p.Ala911Thr) c.2731-1653G>A (n.2731-1653G>A) c.1813G>A (p.Ala605Thr) n.3364G>A | gnomAD v4 |
13 | g.51944208C>A | CA483894714 | ATP7B | c.*894-1654G>T (n.*894-1654G>T) c.*1888G>T (n.*1888G>T) c.2523G>T (p.Val841=) c.3144G>T (p.Val1048=) c.2811G>T (p.Val937=) c.2892G>T (p.Val964=) c.2910G>T (p.Val970=) n.3283G>T n.3507G>T c.2079G>T (p.Val693=) c.1854G>T (p.Val618=) c.2949G>T (p.Val983=) n.364G>T c.1022-1654G>T c.*245G>T (n.*245G>T) n.3888G>T n.2489G>T c.3000G>T (p.Val1000=) n.490G>T c.3048G>T (p.Val1016=) c.3108G>T (p.Val1036=) c.2658G>T (p.Val886=) c.960G>T (p.Val320=) c.877-1654G>T (n.877-1654G>T) c.3009G>T (p.Val1003=) c.3061-1654G>T (n.3061-1654G>T) c.2730G>T (p.Val910=) c.2731-1654G>T (n.2731-1654G>T) c.1812G>T (p.Val604=) n.3363G>T | |
13 | g.51944208C>G | CA483894716 | ATP7B | c.*894-1654G>C (n.*894-1654G>C) c.*1888G>C (n.*1888G>C) c.2523G>C (p.Val841=) c.3144G>C (p.Val1048=) c.2811G>C (p.Val937=) c.2892G>C (p.Val964=) c.2910G>C (p.Val970=) n.3283G>C n.3507G>C c.2079G>C (p.Val693=) c.1854G>C (p.Val618=) c.2949G>C (p.Val983=) n.364G>C c.1022-1654G>C c.*245G>C (n.*245G>C) n.3888G>C n.2489G>C c.3000G>C (p.Val1000=) n.490G>C c.3048G>C (p.Val1016=) c.3108G>C (p.Val1036=) c.2658G>C (p.Val886=) c.960G>C (p.Val320=) c.877-1654G>C (n.877-1654G>C) c.3009G>C (p.Val1003=) c.3061-1654G>C (n.3061-1654G>C) c.2730G>C (p.Val910=) c.2731-1654G>C (n.2731-1654G>C) c.1812G>C (p.Val604=) n.3363G>C | |
13 | g.51944208C>T | CA483894715 | ATP7B | c.*894-1654G>A (n.*894-1654G>A) c.*1888G>A (n.*1888G>A) c.2523G>A (p.Val841=) c.3144G>A (p.Val1048=) c.2811G>A (p.Val937=) c.2892G>A (p.Val964=) c.2910G>A (p.Val970=) n.3283G>A n.3507G>A c.2079G>A (p.Val693=) c.1854G>A (p.Val618=) c.2949G>A (p.Val983=) n.364G>A c.1022-1654G>A c.*245G>A (n.*245G>A) n.3888G>A n.2489G>A c.3000G>A (p.Val1000=) n.490G>A c.3048G>A (p.Val1016=) c.3108G>A (p.Val1036=) c.2658G>A (p.Val886=) c.960G>A (p.Val320=) c.877-1654G>A (n.877-1654G>A) c.3009G>A (p.Val1003=) c.3061-1654G>A (n.3061-1654G>A) c.2730G>A (p.Val910=) c.2731-1654G>A (n.2731-1654G>A) c.1812G>A (p.Val604=) n.3363G>A | |
13 | g.51944209A= | CA2091563989 | ATP7B | c.*894-1655T= (n.*894-1655T=) c.*1887T= (n.*1887T=) c.2522T= (p.Val841=) c.3143T= (p.Val1048=) c.2810T= (p.Val937=) c.2891T= (p.Val964=) c.2909T= (p.Val970=) n.3282T= n.3506T= c.2078T= (p.Val693=) c.1853T= (p.Val618=) c.2948T= (p.Val983=) n.363T= c.1022-1655T= c.*244T= (n.*244T=) n.3887T= n.2488T= c.2999T= (p.Val1000=) n.489T= c.3047T= (p.Val1016=) c.3107T= (p.Val1036=) c.2657T= (p.Val886=) c.959T= (p.Val320=) c.877-1655T= (n.877-1655T=) c.3008T= (p.Val1003=) c.3061-1655T= (n.3061-1655T=) c.2729T= (p.Val910=) c.2731-1655T= (n.2731-1655T=) c.1811T= (p.Val604=) n.3362T= | |
13 | g.51944209A>C | CA388030174 | ATP7B | c.*894-1655T>G (n.*894-1655T>G) c.*1887T>G (n.*1887T>G) c.2522T>G (p.Val841Gly) c.3143T>G (p.Val1048Gly) c.2810T>G (p.Val937Gly) c.2891T>G (p.Val964Gly) c.2909T>G (p.Val970Gly) n.3282T>G n.3506T>G c.2078T>G (p.Val693Gly) c.1853T>G (p.Val618Gly) c.2948T>G (p.Val983Gly) n.363T>G c.1022-1655T>G c.*244T>G (n.*244T>G) n.3887T>G n.2488T>G c.2999T>G (p.Val1000Gly) n.489T>G c.3047T>G (p.Val1016Gly) c.3107T>G (p.Val1036Gly) c.2657T>G (p.Val886Gly) c.959T>G (p.Val320Gly) c.877-1655T>G (n.877-1655T>G) c.3008T>G (p.Val1003Gly) c.3061-1655T>G (n.3061-1655T>G) c.2729T>G (p.Val910Gly) c.2731-1655T>G (n.2731-1655T>G) c.1811T>G (p.Val604Gly) n.3362T>G | |
13 | g.51944209A>G | CA388030176 | ATP7B | c.*894-1655T>C (n.*894-1655T>C) c.*1887T>C (n.*1887T>C) c.2522T>C (p.Val841Ala) c.3143T>C (p.Val1048Ala) c.2810T>C (p.Val937Ala) c.2891T>C (p.Val964Ala) c.2909T>C (p.Val970Ala) n.3282T>C n.3506T>C c.2078T>C (p.Val693Ala) c.1853T>C (p.Val618Ala) c.2948T>C (p.Val983Ala) n.363T>C c.1022-1655T>C c.*244T>C (n.*244T>C) n.3887T>C n.2488T>C c.2999T>C (p.Val1000Ala) n.489T>C c.3047T>C (p.Val1016Ala) c.3107T>C (p.Val1036Ala) c.2657T>C (p.Val886Ala) c.959T>C (p.Val320Ala) c.877-1655T>C (n.877-1655T>C) c.3008T>C (p.Val1003Ala) c.3061-1655T>C (n.3061-1655T>C) c.2729T>C (p.Val910Ala) c.2731-1655T>C (n.2731-1655T>C) c.1811T>C (p.Val604Ala) n.3362T>C | |
13 | g.51944209A>T | CA388030178 | ATP7B | c.*894-1655T>A (n.*894-1655T>A) c.*1887T>A (n.*1887T>A) c.2522T>A (p.Val841Glu) c.3143T>A (p.Val1048Glu) c.2810T>A (p.Val937Glu) c.2891T>A (p.Val964Glu) c.2909T>A (p.Val970Glu) n.3282T>A n.3506T>A c.2078T>A (p.Val693Glu) c.1853T>A (p.Val618Glu) c.2948T>A (p.Val983Glu) n.363T>A c.1022-1655T>A c.*244T>A (n.*244T>A) n.3887T>A n.2488T>A c.2999T>A (p.Val1000Glu) n.489T>A c.3047T>A (p.Val1016Glu) c.3107T>A (p.Val1036Glu) c.2657T>A (p.Val886Glu) c.959T>A (p.Val320Glu) c.877-1655T>A (n.877-1655T>A) c.3008T>A (p.Val1003Glu) c.3061-1655T>A (n.3061-1655T>A) c.2729T>A (p.Val910Glu) c.2731-1655T>A (n.2731-1655T>A) c.1811T>A (p.Val604Glu) n.3362T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944210C>A | CA388030185 | ATP7B | c.*894-1656G>T (n.*894-1656G>T) c.*1886G>T (n.*1886G>T) c.2521G>T (p.Val841Leu) c.3142G>T (p.Val1048Leu) c.2809G>T (p.Val937Leu) c.2890G>T (p.Val964Leu) c.2908G>T (p.Val970Leu) n.3281G>T n.3505G>T c.2077G>T (p.Val693Leu) c.1852G>T (p.Val618Leu) c.2947G>T (p.Val983Leu) n.362G>T c.1022-1656G>T c.*243G>T (n.*243G>T) n.3886G>T n.2487G>T c.2998G>T (p.Val1000Leu) n.488G>T c.3046G>T (p.Val1016Leu) c.3106G>T (p.Val1036Leu) c.2656G>T (p.Val886Leu) c.958G>T (p.Val320Leu) c.877-1656G>T (n.877-1656G>T) c.3007G>T (p.Val1003Leu) c.3061-1656G>T (n.3061-1656G>T) c.2728G>T (p.Val910Leu) c.2731-1656G>T (n.2731-1656G>T) c.1810G>T (p.Val604Leu) n.3361G>T | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944210C= | CA2091563995 | ATP7B | c.*894-1656G= (n.*894-1656G=) c.*1886G= (n.*1886G=) c.2521G= (p.Val841=) c.3142G= (p.Val1048=) c.2809G= (p.Val937=) c.2890G= (p.Val964=) c.2908G= (p.Val970=) n.3281G= n.3505G= c.2077G= (p.Val693=) c.1852G= (p.Val618=) c.2947G= (p.Val983=) n.362G= c.1022-1656G= c.*243G= (n.*243G=) n.3886G= n.2487G= c.2998G= (p.Val1000=) n.488G= c.3046G= (p.Val1016=) c.3106G= (p.Val1036=) c.2656G= (p.Val886=) c.958G= (p.Val320=) c.877-1656G= (n.877-1656G=) c.3007G= (p.Val1003=) c.3061-1656G= (n.3061-1656G=) c.2728G= (p.Val910=) c.2731-1656G= (n.2731-1656G=) c.1810G= (p.Val604=) n.3361G= | |
13 | g.51944210C>G | CA388030182 | ATP7B | c.*894-1656G>C (n.*894-1656G>C) c.*1886G>C (n.*1886G>C) c.2521G>C (p.Val841Leu) c.3142G>C (p.Val1048Leu) c.2809G>C (p.Val937Leu) c.2890G>C (p.Val964Leu) c.2908G>C (p.Val970Leu) n.3281G>C n.3505G>C c.2077G>C (p.Val693Leu) c.1852G>C (p.Val618Leu) c.2947G>C (p.Val983Leu) n.362G>C c.1022-1656G>C c.*243G>C (n.*243G>C) n.3886G>C n.2487G>C c.2998G>C (p.Val1000Leu) n.488G>C c.3046G>C (p.Val1016Leu) c.3106G>C (p.Val1036Leu) c.2656G>C (p.Val886Leu) c.958G>C (p.Val320Leu) c.877-1656G>C (n.877-1656G>C) c.3007G>C (p.Val1003Leu) c.3061-1656G>C (n.3061-1656G>C) c.2728G>C (p.Val910Leu) c.2731-1656G>C (n.2731-1656G>C) c.1810G>C (p.Val604Leu) n.3361G>C | |
13 | g.51944210C>T | CA388030181 | ATP7B | c.*894-1656G>A (n.*894-1656G>A) c.*1886G>A (n.*1886G>A) c.2521G>A (p.Val841Met) c.3142G>A (p.Val1048Met) c.2809G>A (p.Val937Met) c.2890G>A (p.Val964Met) c.2908G>A (p.Val970Met) n.3281G>A n.3505G>A c.2077G>A (p.Val693Met) c.1852G>A (p.Val618Met) c.2947G>A (p.Val983Met) n.362G>A c.1022-1656G>A c.*243G>A (n.*243G>A) n.3886G>A n.2487G>A c.2998G>A (p.Val1000Met) n.488G>A c.3046G>A (p.Val1016Met) c.3106G>A (p.Val1036Met) c.2656G>A (p.Val886Met) c.958G>A (p.Val320Met) c.877-1656G>A (n.877-1656G>A) c.3007G>A (p.Val1003Met) c.3061-1656G>A (n.3061-1656G>A) c.2728G>A (p.Val910Met) c.2731-1656G>A (n.2731-1656G>A) c.1810G>A (p.Val604Met) n.3361G>A | gnomAD v4 |
13 | g.51944211A= | CA2091564000 | ATP7B | c.*894-1657T= (n.*894-1657T=) c.*1885T= (n.*1885T=) c.2520T= (p.Asp840=) c.3141T= (p.Asp1047=) c.2808T= (p.Asp936=) c.2889T= (p.Asp963=) c.2907T= (p.Asp969=) n.3280T= n.3504T= c.2076T= (p.Asp692=) c.1851T= (p.Asp617=) c.2946T= (p.Asp982=) n.361T= c.1022-1657T= c.*242T= (n.*242T=) n.3885T= n.2486T= c.2997T= (p.Asp999=) n.487T= c.3045T= (p.Asp1015=) c.3105T= (p.Asp1035=) c.2655T= (p.Asp885=) c.957T= (p.Asp319=) c.877-1657T= (n.877-1657T=) c.3006T= (p.Asp1002=) c.3061-1657T= (n.3061-1657T=) c.2727T= (p.Asp909=) c.2731-1657T= (n.2731-1657T=) c.1809T= (p.Asp603=) n.3360T= | |
13 | g.51944211A>C | CA388030191 | ATP7B | c.*894-1657T>G (n.*894-1657T>G) c.*1885T>G (n.*1885T>G) c.2520T>G (p.Asp840Glu) c.3141T>G (p.Asp1047Glu) c.2808T>G (p.Asp936Glu) c.2889T>G (p.Asp963Glu) c.2907T>G (p.Asp969Glu) n.3280T>G n.3504T>G c.2076T>G (p.Asp692Glu) c.1851T>G (p.Asp617Glu) c.2946T>G (p.Asp982Glu) n.361T>G c.1022-1657T>G c.*242T>G (n.*242T>G) n.3885T>G n.2486T>G c.2997T>G (p.Asp999Glu) n.487T>G c.3045T>G (p.Asp1015Glu) c.3105T>G (p.Asp1035Glu) c.2655T>G (p.Asp885Glu) c.957T>G (p.Asp319Glu) c.877-1657T>G (n.877-1657T>G) c.3006T>G (p.Asp1002Glu) c.3061-1657T>G (n.3061-1657T>G) c.2727T>G (p.Asp909Glu) c.2731-1657T>G (n.2731-1657T>G) c.1809T>G (p.Asp603Glu) n.3360T>G | |
13 | g.51944211A>G | CA483894717 | ATP7B | c.*894-1657T>C (n.*894-1657T>C) c.*1885T>C (n.*1885T>C) c.2520T>C (p.Asp840=) c.3141T>C (p.Asp1047=) c.2808T>C (p.Asp936=) c.2889T>C (p.Asp963=) c.2907T>C (p.Asp969=) n.3280T>C n.3504T>C c.2076T>C (p.Asp692=) c.1851T>C (p.Asp617=) c.2946T>C (p.Asp982=) n.361T>C c.1022-1657T>C c.*242T>C (n.*242T>C) n.3885T>C n.2486T>C c.2997T>C (p.Asp999=) n.487T>C c.3045T>C (p.Asp1015=) c.3105T>C (p.Asp1035=) c.2655T>C (p.Asp885=) c.957T>C (p.Asp319=) c.877-1657T>C (n.877-1657T>C) c.3006T>C (p.Asp1002=) c.3061-1657T>C (n.3061-1657T>C) c.2727T>C (p.Asp909=) c.2731-1657T>C (n.2731-1657T>C) c.1809T>C (p.Asp603=) n.3360T>C | |
13 | g.51944211A>T | CA6988798 | ATP7B | c.*894-1657T>A (n.*894-1657T>A) c.*1885T>A (n.*1885T>A) c.2520T>A (p.Asp840Glu) c.3141T>A (p.Asp1047Glu) c.2808T>A (p.Asp936Glu) c.2889T>A (p.Asp963Glu) c.2907T>A (p.Asp969Glu) n.3280T>A n.3504T>A c.2076T>A (p.Asp692Glu) c.1851T>A (p.Asp617Glu) c.2946T>A (p.Asp982Glu) n.361T>A c.1022-1657T>A c.*242T>A (n.*242T>A) n.3885T>A n.2486T>A c.2997T>A (p.Asp999Glu) n.487T>A c.3045T>A (p.Asp1015Glu) c.3105T>A (p.Asp1035Glu) c.2655T>A (p.Asp885Glu) c.957T>A (p.Asp319Glu) c.877-1657T>A (n.877-1657T>A) c.3006T>A (p.Asp1002Glu) c.3061-1657T>A (n.3061-1657T>A) c.2727T>A (p.Asp909Glu) c.2731-1657T>A (n.2731-1657T>A) c.1809T>A (p.Asp603Glu) n.3360T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944212del | CA2499222491 | ATP7B | c.*894-1658del (n.*894-1658del) c.*1884del (n.*1884del) c.2519del (p.Asp840ValfsTer?) c.3140del (p.Asp1047ValfsTer?) c.2807del (p.Asp936ValfsTer?) c.2888del (p.Asp963ValfsTer?) c.2906del (p.Asp969ValfsTer?) n.3279del n.3503del c.2075del (p.Asp692ValfsTer?) c.1850del (p.Asp617ValfsTer?) c.2945del (p.Asp982ValfsTer?) n.360del c.1022-1658del c.*241del (n.*241del) n.3884del n.2485del c.2996del (p.Asp999ValfsTer?) n.486del c.3044del (p.Asp1015ValfsTer?) c.3104del (p.Asp1035ValfsTer?) c.2654del (p.Asp885ValfsTer?) c.956del (p.Asp319ValfsTer?) c.877-1658del (n.877-1658del) c.3005del (p.Asp1002ValfsTer?) c.3061-1658del (n.3061-1658del) c.2726del (p.Asp909ValfsTer?) c.2731-1658del (n.2731-1658del) c.1808del (p.Asp603ValfsTer?) n.3359del | ClinVar dbSNP |
13 | g.51944212T>A | CA388030192 | ATP7B | c.*894-1658A>T (n.*894-1658A>T) c.*1884A>T (n.*1884A>T) c.2519A>T (p.Asp840Val) c.3140A>T (p.Asp1047Val) c.2807A>T (p.Asp936Val) c.2888A>T (p.Asp963Val) c.2906A>T (p.Asp969Val) n.3279A>T n.3503A>T c.2075A>T (p.Asp692Val) c.1850A>T (p.Asp617Val) c.2945A>T (p.Asp982Val) n.360A>T c.1022-1658A>T c.*241A>T (n.*241A>T) n.3884A>T n.2485A>T c.2996A>T (p.Asp999Val) n.486A>T c.3044A>T (p.Asp1015Val) c.3104A>T (p.Asp1035Val) c.2654A>T (p.Asp885Val) c.956A>T (p.Asp319Val) c.877-1658A>T (n.877-1658A>T) c.3005A>T (p.Asp1002Val) c.3061-1658A>T (n.3061-1658A>T) c.2726A>T (p.Asp909Val) c.2731-1658A>T (n.2731-1658A>T) c.1808A>T (p.Asp603Val) n.3359A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944212T>C | CA388030193 | ATP7B | c.*894-1658A>G (n.*894-1658A>G) c.*1884A>G (n.*1884A>G) c.2519A>G (p.Asp840Gly) c.3140A>G (p.Asp1047Gly) c.2807A>G (p.Asp936Gly) c.2888A>G (p.Asp963Gly) c.2906A>G (p.Asp969Gly) n.3279A>G n.3503A>G c.2075A>G (p.Asp692Gly) c.1850A>G (p.Asp617Gly) c.2945A>G (p.Asp982Gly) n.360A>G c.1022-1658A>G c.*241A>G (n.*241A>G) n.3884A>G n.2485A>G c.2996A>G (p.Asp999Gly) n.486A>G c.3044A>G (p.Asp1015Gly) c.3104A>G (p.Asp1035Gly) c.2654A>G (p.Asp885Gly) c.956A>G (p.Asp319Gly) c.877-1658A>G (n.877-1658A>G) c.3005A>G (p.Asp1002Gly) c.3061-1658A>G (n.3061-1658A>G) c.2726A>G (p.Asp909Gly) c.2731-1658A>G (n.2731-1658A>G) c.1808A>G (p.Asp603Gly) n.3359A>G | |
13 | g.51944212T>G | CA388030194 | ATP7B | c.*894-1658A>C (n.*894-1658A>C) c.*1884A>C (n.*1884A>C) c.2519A>C (p.Asp840Ala) c.3140A>C (p.Asp1047Ala) c.2807A>C (p.Asp936Ala) c.2888A>C (p.Asp963Ala) c.2906A>C (p.Asp969Ala) n.3279A>C n.3503A>C c.2075A>C (p.Asp692Ala) c.1850A>C (p.Asp617Ala) c.2945A>C (p.Asp982Ala) n.360A>C c.1022-1658A>C c.*241A>C (n.*241A>C) n.3884A>C n.2485A>C c.2996A>C (p.Asp999Ala) n.486A>C c.3044A>C (p.Asp1015Ala) c.3104A>C (p.Asp1035Ala) c.2654A>C (p.Asp885Ala) c.956A>C (p.Asp319Ala) c.877-1658A>C (n.877-1658A>C) c.3005A>C (p.Asp1002Ala) c.3061-1658A>C (n.3061-1658A>C) c.2726A>C (p.Asp909Ala) c.2731-1658A>C (n.2731-1658A>C) c.1808A>C (p.Asp603Ala) n.3359A>C | |
13 | g.51944212T= | CA2091564007 | ATP7B | c.*894-1658A= (n.*894-1658A=) c.*1884A= (n.*1884A=) c.2519A= (p.Asp840=) c.3140A= (p.Asp1047=) c.2807A= (p.Asp936=) c.2888A= (p.Asp963=) c.2906A= (p.Asp969=) n.3279A= n.3503A= c.2075A= (p.Asp692=) c.1850A= (p.Asp617=) c.2945A= (p.Asp982=) n.360A= c.1022-1658A= c.*241A= (n.*241A=) n.3884A= n.2485A= c.2996A= (p.Asp999=) n.486A= c.3044A= (p.Asp1015=) c.3104A= (p.Asp1035=) c.2654A= (p.Asp885=) c.956A= (p.Asp319=) c.877-1658A= (n.877-1658A=) c.3005A= (p.Asp1002=) c.3061-1658A= (n.3061-1658A=) c.2726A= (p.Asp909=) c.2731-1658A= (n.2731-1658A=) c.1808A= (p.Asp603=) n.3359A= | |
13 | g.51944212dup | CA2091564004 | ATP7B | c.*894-1658dup (n.*894-1658dup) c.*1884dup (n.*1884dup) c.2519dup (p.Asp840GlufsTer22) c.3140dup (p.Asp1047GlufsTer22) c.2807dup (p.Asp936GlufsTer22) c.2888dup (p.Asp963GlufsTer22) c.2906dup (p.Asp969GlufsTer22) n.3279dup n.3503dup c.2075dup (p.Asp692GlufsTer22) c.1850dup (p.Asp617GlufsTer22) c.2945dup (p.Asp982GlufsTer22) n.360dup c.1022-1658dup c.*241dup (n.*241dup) n.3884dup n.2485dup c.2996dup (p.Asp999GlufsTer22) n.486dup c.3044dup (p.Asp1015GlufsTer22) c.3104dup (p.Asp1035GlufsTer22) c.2654dup (p.Asp885GlufsTer22) c.956dup (p.Asp319GlufsTer22) c.877-1658dup (n.877-1658dup) c.3005dup (p.Asp1002GlufsTer22) c.3061-1658dup (n.3061-1658dup) c.2726dup (p.Asp909GlufsTer22) c.2731-1658dup (n.2731-1658dup) c.1808dup (p.Asp603GlufsTer22) n.3359dup | ClinVar dbSNP |
13 | g.51944213C>A | CA388030195 | ATP7B | c.*894-1659G>T (n.*894-1659G>T) c.*1883G>T (n.*1883G>T) c.2518G>T (p.Asp840Tyr) c.3139G>T (p.Asp1047Tyr) c.2806G>T (p.Asp936Tyr) c.2887G>T (p.Asp963Tyr) c.2905G>T (p.Asp969Tyr) n.3278G>T n.3502G>T c.2074G>T (p.Asp692Tyr) c.1849G>T (p.Asp617Tyr) c.2944G>T (p.Asp982Tyr) n.359G>T c.1022-1659G>T c.*240G>T (n.*240G>T) n.3883G>T n.2484G>T c.2995G>T (p.Asp999Tyr) n.485G>T c.3043G>T (p.Asp1015Tyr) c.3103G>T (p.Asp1035Tyr) c.2653G>T (p.Asp885Tyr) c.955G>T (p.Asp319Tyr) c.877-1659G>T (n.877-1659G>T) c.3004G>T (p.Asp1002Tyr) c.3061-1659G>T (n.3061-1659G>T) c.2725G>T (p.Asp909Tyr) c.2731-1659G>T (n.2731-1659G>T) c.1807G>T (p.Asp603Tyr) n.3358G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944213C= | CA2091564017 | ATP7B | c.*894-1659G= (n.*894-1659G=) c.*1883G= (n.*1883G=) c.2518G= (p.Asp840=) c.3139G= (p.Asp1047=) c.2806G= (p.Asp936=) c.2887G= (p.Asp963=) c.2905G= (p.Asp969=) n.3278G= n.3502G= c.2074G= (p.Asp692=) c.1849G= (p.Asp617=) c.2944G= (p.Asp982=) n.359G= c.1022-1659G= c.*240G= (n.*240G=) n.3883G= n.2484G= c.2995G= (p.Asp999=) n.485G= c.3043G= (p.Asp1015=) c.3103G= (p.Asp1035=) c.2653G= (p.Asp885=) c.955G= (p.Asp319=) c.877-1659G= (n.877-1659G=) c.3004G= (p.Asp1002=) c.3061-1659G= (n.3061-1659G=) c.2725G= (p.Asp909=) c.2731-1659G= (n.2731-1659G=) c.1807G= (p.Asp603=) n.3358G= | |
13 | g.51944213C>G | CA388030197 | ATP7B | c.*894-1659G>C (n.*894-1659G>C) c.*1883G>C (n.*1883G>C) c.2518G>C (p.Asp840His) c.3139G>C (p.Asp1047His) c.2806G>C (p.Asp936His) c.2887G>C (p.Asp963His) c.2905G>C (p.Asp969His) n.3278G>C n.3502G>C c.2074G>C (p.Asp692His) c.1849G>C (p.Asp617His) c.2944G>C (p.Asp982His) n.359G>C c.1022-1659G>C c.*240G>C (n.*240G>C) n.3883G>C n.2484G>C c.2995G>C (p.Asp999His) n.485G>C c.3043G>C (p.Asp1015His) c.3103G>C (p.Asp1035His) c.2653G>C (p.Asp885His) c.955G>C (p.Asp319His) c.877-1659G>C (n.877-1659G>C) c.3004G>C (p.Asp1002His) c.3061-1659G>C (n.3061-1659G>C) c.2725G>C (p.Asp909His) c.2731-1659G>C (n.2731-1659G>C) c.1807G>C (p.Asp603His) n.3358G>C | |
13 | g.51944213C>T | CA388030198 | ATP7B | c.*894-1659G>A (n.*894-1659G>A) c.*1883G>A (n.*1883G>A) c.2518G>A (p.Asp840Asn) c.3139G>A (p.Asp1047Asn) c.2806G>A (p.Asp936Asn) c.2887G>A (p.Asp963Asn) c.2905G>A (p.Asp969Asn) n.3278G>A n.3502G>A c.2074G>A (p.Asp692Asn) c.1849G>A (p.Asp617Asn) c.2944G>A (p.Asp982Asn) n.359G>A c.1022-1659G>A c.*240G>A (n.*240G>A) n.3883G>A n.2484G>A c.2995G>A (p.Asp999Asn) n.485G>A c.3043G>A (p.Asp1015Asn) c.3103G>A (p.Asp1035Asn) c.2653G>A (p.Asp885Asn) c.955G>A (p.Asp319Asn) c.877-1659G>A (n.877-1659G>A) c.3004G>A (p.Asp1002Asn) c.3061-1659G>A (n.3061-1659G>A) c.2725G>A (p.Asp909Asn) c.2731-1659G>A (n.2731-1659G>A) c.1807G>A (p.Asp603Asn) n.3358G>A | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51944214C>A | CA483894718 | ATP7B | c.*894-1660G>T (n.*894-1660G>T) c.*1882G>T (n.*1882G>T) c.2517G>T (p.Gly839=) c.3138G>T (p.Gly1046=) c.2805G>T (p.Gly935=) c.2886G>T (p.Gly962=) c.2904G>T (p.Gly968=) n.3277G>T n.3501G>T c.2073G>T (p.Gly691=) c.1848G>T (p.Gly616=) c.2943G>T (p.Gly981=) n.358G>T c.1022-1660G>T c.*239G>T (n.*239G>T) n.3882G>T n.2483G>T c.2994G>T (p.Gly998=) n.484G>T c.3042G>T (p.Gly1014=) c.3102G>T (p.Gly1034=) c.2652G>T (p.Gly884=) c.954G>T (p.Gly318=) c.877-1660G>T (n.877-1660G>T) c.3003G>T (p.Gly1001=) c.3061-1660G>T (n.3061-1660G>T) c.2724G>T (p.Gly908=) c.2731-1660G>T (n.2731-1660G>T) c.1806G>T (p.Gly602=) n.3357G>T | |
13 | g.51944214C>G | CA483894719 | ATP7B | c.*894-1660G>C (n.*894-1660G>C) c.*1882G>C (n.*1882G>C) c.2517G>C (p.Gly839=) c.3138G>C (p.Gly1046=) c.2805G>C (p.Gly935=) c.2886G>C (p.Gly962=) c.2904G>C (p.Gly968=) n.3277G>C n.3501G>C c.2073G>C (p.Gly691=) c.1848G>C (p.Gly616=) c.2943G>C (p.Gly981=) n.358G>C c.1022-1660G>C c.*239G>C (n.*239G>C) n.3882G>C n.2483G>C c.2994G>C (p.Gly998=) n.484G>C c.3042G>C (p.Gly1014=) c.3102G>C (p.Gly1034=) c.2652G>C (p.Gly884=) c.954G>C (p.Gly318=) c.877-1660G>C (n.877-1660G>C) c.3003G>C (p.Gly1001=) c.3061-1660G>C (n.3061-1660G>C) c.2724G>C (p.Gly908=) c.2731-1660G>C (n.2731-1660G>C) c.1806G>C (p.Gly602=) n.3357G>C | |
13 | g.51944214C>T | CA483894720 | ATP7B | c.*894-1660G>A (n.*894-1660G>A) c.*1882G>A (n.*1882G>A) c.2517G>A (p.Gly839=) c.3138G>A (p.Gly1046=) c.2805G>A (p.Gly935=) c.2886G>A (p.Gly962=) c.2904G>A (p.Gly968=) n.3277G>A n.3501G>A c.2073G>A (p.Gly691=) c.1848G>A (p.Gly616=) c.2943G>A (p.Gly981=) n.358G>A c.1022-1660G>A c.*239G>A (n.*239G>A) n.3882G>A n.2483G>A c.2994G>A (p.Gly998=) n.484G>A c.3042G>A (p.Gly1014=) c.3102G>A (p.Gly1034=) c.2652G>A (p.Gly884=) c.954G>A (p.Gly318=) c.877-1660G>A (n.877-1660G>A) c.3003G>A (p.Gly1001=) c.3061-1660G>A (n.3061-1660G>A) c.2724G>A (p.Gly908=) c.2731-1660G>A (n.2731-1660G>A) c.1806G>A (p.Gly602=) n.3357G>A | ClinVar |
13 | g.51944215C>A | CA388030203 | ATP7B | c.*894-1661G>T (n.*894-1661G>T) c.*1881G>T (n.*1881G>T) c.2516G>T (p.Gly839Val) c.3137G>T (p.Gly1046Val) c.2804G>T (p.Gly935Val) c.2885G>T (p.Gly962Val) c.2903G>T (p.Gly968Val) n.3276G>T n.3500G>T c.2072G>T (p.Gly691Val) c.1847G>T (p.Gly616Val) c.2942G>T (p.Gly981Val) n.357G>T c.1022-1661G>T c.*238G>T (n.*238G>T) n.3881G>T n.2482G>T c.2993G>T (p.Gly998Val) n.483G>T c.3041G>T (p.Gly1014Val) c.3101G>T (p.Gly1034Val) c.2651G>T (p.Gly884Val) c.953G>T (p.Gly318Val) c.877-1661G>T (n.877-1661G>T) c.3002G>T (p.Gly1001Val) c.3061-1661G>T (n.3061-1661G>T) c.2723G>T (p.Gly908Val) c.2731-1661G>T (n.2731-1661G>T) c.1805G>T (p.Gly602Val) n.3356G>T | |
13 | g.51944215C>G | CA388030206 | ATP7B | c.*894-1661G>C (n.*894-1661G>C) c.*1881G>C (n.*1881G>C) c.2516G>C (p.Gly839Ala) c.3137G>C (p.Gly1046Ala) c.2804G>C (p.Gly935Ala) c.2885G>C (p.Gly962Ala) c.2903G>C (p.Gly968Ala) n.3276G>C n.3500G>C c.2072G>C (p.Gly691Ala) c.1847G>C (p.Gly616Ala) c.2942G>C (p.Gly981Ala) n.357G>C c.1022-1661G>C c.*238G>C (n.*238G>C) n.3881G>C n.2482G>C c.2993G>C (p.Gly998Ala) n.483G>C c.3041G>C (p.Gly1014Ala) c.3101G>C (p.Gly1034Ala) c.2651G>C (p.Gly884Ala) c.953G>C (p.Gly318Ala) c.877-1661G>C (n.877-1661G>C) c.3002G>C (p.Gly1001Ala) c.3061-1661G>C (n.3061-1661G>C) c.2723G>C (p.Gly908Ala) c.2731-1661G>C (n.2731-1661G>C) c.1805G>C (p.Gly602Ala) n.3356G>C | gnomAD v4 |
13 | g.51944215C>T | CA388030207 | ATP7B | c.*894-1661G>A (n.*894-1661G>A) c.*1881G>A (n.*1881G>A) c.2516G>A (p.Gly839Glu) c.3137G>A (p.Gly1046Glu) c.2804G>A (p.Gly935Glu) c.2885G>A (p.Gly962Glu) c.2903G>A (p.Gly968Glu) n.3276G>A n.3500G>A c.2072G>A (p.Gly691Glu) c.1847G>A (p.Gly616Glu) c.2942G>A (p.Gly981Glu) n.357G>A c.1022-1661G>A c.*238G>A (n.*238G>A) n.3881G>A n.2482G>A c.2993G>A (p.Gly998Glu) n.483G>A c.3041G>A (p.Gly1014Glu) c.3101G>A (p.Gly1034Glu) c.2651G>A (p.Gly884Glu) c.953G>A (p.Gly318Glu) c.877-1661G>A (n.877-1661G>A) c.3002G>A (p.Gly1001Glu) c.3061-1661G>A (n.3061-1661G>A) c.2723G>A (p.Gly908Glu) c.2731-1661G>A (n.2731-1661G>A) c.1805G>A (p.Gly602Glu) n.3356G>A | gnomAD v4 |
13 | g.51944216C>A | CA388030214 | ATP7B | c.*894-1662G>T (n.*894-1662G>T) c.*1880G>T (n.*1880G>T) c.2515G>T (p.Gly839Trp) c.3136G>T (p.Gly1046Trp) c.2803G>T (p.Gly935Trp) c.2884G>T (p.Gly962Trp) c.2902G>T (p.Gly968Trp) n.3275G>T n.3499G>T c.2071G>T (p.Gly691Trp) c.1846G>T (p.Gly616Trp) c.2941G>T (p.Gly981Trp) n.356G>T c.1022-1662G>T c.*237G>T (n.*237G>T) n.3880G>T n.2481G>T c.2992G>T (p.Gly998Trp) n.482G>T c.3040G>T (p.Gly1014Trp) c.3100G>T (p.Gly1034Trp) c.2650G>T (p.Gly884Trp) c.952G>T (p.Gly318Trp) c.877-1662G>T (n.877-1662G>T) c.3001G>T (p.Gly1001Trp) c.3061-1662G>T (n.3061-1662G>T) c.2722G>T (p.Gly908Trp) c.2731-1662G>T (n.2731-1662G>T) c.1804G>T (p.Gly602Trp) n.3355G>T | |
13 | g.51944216C>G | CA388030215 | ATP7B | c.*894-1662G>C (n.*894-1662G>C) c.*1880G>C (n.*1880G>C) c.2515G>C (p.Gly839Arg) c.3136G>C (p.Gly1046Arg) c.2803G>C (p.Gly935Arg) c.2884G>C (p.Gly962Arg) c.2902G>C (p.Gly968Arg) n.3275G>C n.3499G>C c.2071G>C (p.Gly691Arg) c.1846G>C (p.Gly616Arg) c.2941G>C (p.Gly981Arg) n.356G>C c.1022-1662G>C c.*237G>C (n.*237G>C) n.3880G>C n.2481G>C c.2992G>C (p.Gly998Arg) n.482G>C c.3040G>C (p.Gly1014Arg) c.3100G>C (p.Gly1034Arg) c.2650G>C (p.Gly884Arg) c.952G>C (p.Gly318Arg) c.877-1662G>C (n.877-1662G>C) c.3001G>C (p.Gly1001Arg) c.3061-1662G>C (n.3061-1662G>C) c.2722G>C (p.Gly908Arg) c.2731-1662G>C (n.2731-1662G>C) c.1804G>C (p.Gly602Arg) n.3355G>C | |
13 | g.51944216C>T | CA388030208 | ATP7B | c.*894-1662G>A (n.*894-1662G>A) c.*1880G>A (n.*1880G>A) c.2515G>A (p.Gly839Arg) c.3136G>A (p.Gly1046Arg) c.2803G>A (p.Gly935Arg) c.2884G>A (p.Gly962Arg) c.2902G>A (p.Gly968Arg) n.3275G>A n.3499G>A c.2071G>A (p.Gly691Arg) c.1846G>A (p.Gly616Arg) c.2941G>A (p.Gly981Arg) n.356G>A c.1022-1662G>A c.*237G>A (n.*237G>A) n.3880G>A n.2481G>A c.2992G>A (p.Gly998Arg) n.482G>A c.3040G>A (p.Gly1014Arg) c.3100G>A (p.Gly1034Arg) c.2650G>A (p.Gly884Arg) c.952G>A (p.Gly318Arg) c.877-1662G>A (n.877-1662G>A) c.3001G>A (p.Gly1001Arg) c.3061-1662G>A (n.3061-1662G>A) c.2722G>A (p.Gly908Arg) c.2731-1662G>A (n.2731-1662G>A) c.1804G>A (p.Gly602Arg) n.3355G>A | |
13 | g.51944217C>A | CA483894721 | ATP7B | c.*894-1663G>T (n.*894-1663G>T) c.*1879G>T (n.*1879G>T) c.2514G>T (p.Leu838=) c.3135G>T (p.Leu1045=) c.2802G>T (p.Leu934=) c.2883G>T (p.Leu961=) c.2901G>T (p.Leu967=) n.3274G>T n.3498G>T c.2070G>T (p.Leu690=) c.1845G>T (p.Leu615=) c.2940G>T (p.Leu980=) n.355G>T c.1022-1663G>T c.*236G>T (n.*236G>T) n.3879G>T n.2480G>T c.2991G>T (p.Leu997=) n.481G>T c.3039G>T (p.Leu1013=) c.3099G>T (p.Leu1033=) c.2649G>T (p.Leu883=) c.951G>T (p.Leu317=) c.877-1663G>T (n.877-1663G>T) c.3000G>T (p.Leu1000=) c.3061-1663G>T (n.3061-1663G>T) c.2721G>T (p.Leu907=) c.2731-1663G>T (n.2731-1663G>T) c.1803G>T (p.Leu601=) n.3354G>T | gnomAD v4 |
13 | g.51944217C>G | CA483894722 | ATP7B | c.*894-1663G>C (n.*894-1663G>C) c.*1879G>C (n.*1879G>C) c.2514G>C (p.Leu838=) c.3135G>C (p.Leu1045=) c.2802G>C (p.Leu934=) c.2883G>C (p.Leu961=) c.2901G>C (p.Leu967=) n.3274G>C n.3498G>C c.2070G>C (p.Leu690=) c.1845G>C (p.Leu615=) c.2940G>C (p.Leu980=) n.355G>C c.1022-1663G>C c.*236G>C (n.*236G>C) n.3879G>C n.2480G>C c.2991G>C (p.Leu997=) n.481G>C c.3039G>C (p.Leu1013=) c.3099G>C (p.Leu1033=) c.2649G>C (p.Leu883=) c.951G>C (p.Leu317=) c.877-1663G>C (n.877-1663G>C) c.3000G>C (p.Leu1000=) c.3061-1663G>C (n.3061-1663G>C) c.2721G>C (p.Leu907=) c.2731-1663G>C (n.2731-1663G>C) c.1803G>C (p.Leu601=) n.3354G>C | |
13 | g.51944217C>T | CA483894723 | ATP7B | c.*894-1663G>A (n.*894-1663G>A) c.*1879G>A (n.*1879G>A) c.2514G>A (p.Leu838=) c.3135G>A (p.Leu1045=) c.2802G>A (p.Leu934=) c.2883G>A (p.Leu961=) c.2901G>A (p.Leu967=) n.3274G>A n.3498G>A c.2070G>A (p.Leu690=) c.1845G>A (p.Leu615=) c.2940G>A (p.Leu980=) n.355G>A c.1022-1663G>A c.*236G>A (n.*236G>A) n.3879G>A n.2480G>A c.2991G>A (p.Leu997=) n.481G>A c.3039G>A (p.Leu1013=) c.3099G>A (p.Leu1033=) c.2649G>A (p.Leu883=) c.951G>A (p.Leu317=) c.877-1663G>A (n.877-1663G>A) c.3000G>A (p.Leu1000=) c.3061-1663G>A (n.3061-1663G>A) c.2721G>A (p.Leu907=) c.2731-1663G>A (n.2731-1663G>A) c.1803G>A (p.Leu601=) n.3354G>A | |
13 | g.51944218A>C | CA388030218 | ATP7B | c.*894-1664T>G (n.*894-1664T>G) c.*1878T>G (n.*1878T>G) c.2513T>G (p.Leu838Arg) c.3134T>G (p.Leu1045Arg) c.2801T>G (p.Leu934Arg) c.2882T>G (p.Leu961Arg) c.2900T>G (p.Leu967Arg) n.3273T>G n.3497T>G c.2069T>G (p.Leu690Arg) c.1844T>G (p.Leu615Arg) c.2939T>G (p.Leu980Arg) n.354T>G c.1022-1664T>G c.*235T>G (n.*235T>G) n.3878T>G n.2479T>G c.2990T>G (p.Leu997Arg) n.480T>G c.3038T>G (p.Leu1013Arg) c.3098T>G (p.Leu1033Arg) c.2648T>G (p.Leu883Arg) c.950T>G (p.Leu317Arg) c.877-1664T>G (n.877-1664T>G) c.2999T>G (p.Leu1000Arg) c.3061-1664T>G (n.3061-1664T>G) c.2720T>G (p.Leu907Arg) c.2731-1664T>G (n.2731-1664T>G) c.1802T>G (p.Leu601Arg) n.3353T>G | |
13 | g.51944218A>G | CA388030219 | ATP7B | c.*894-1664T>C (n.*894-1664T>C) c.*1878T>C (n.*1878T>C) c.2513T>C (p.Leu838Pro) c.3134T>C (p.Leu1045Pro) c.2801T>C (p.Leu934Pro) c.2882T>C (p.Leu961Pro) c.2900T>C (p.Leu967Pro) n.3273T>C n.3497T>C c.2069T>C (p.Leu690Pro) c.1844T>C (p.Leu615Pro) c.2939T>C (p.Leu980Pro) n.354T>C c.1022-1664T>C c.*235T>C (n.*235T>C) n.3878T>C n.2479T>C c.2990T>C (p.Leu997Pro) n.480T>C c.3038T>C (p.Leu1013Pro) c.3098T>C (p.Leu1033Pro) c.2648T>C (p.Leu883Pro) c.950T>C (p.Leu317Pro) c.877-1664T>C (n.877-1664T>C) c.2999T>C (p.Leu1000Pro) c.3061-1664T>C (n.3061-1664T>C) c.2720T>C (p.Leu907Pro) c.2731-1664T>C (n.2731-1664T>C) c.1802T>C (p.Leu601Pro) n.3353T>C | |
13 | g.51944218A>T | CA388030221 | ATP7B | c.*894-1664T>A (n.*894-1664T>A) c.*1878T>A (n.*1878T>A) c.2513T>A (p.Leu838Gln) c.3134T>A (p.Leu1045Gln) c.2801T>A (p.Leu934Gln) c.2882T>A (p.Leu961Gln) c.2900T>A (p.Leu967Gln) n.3273T>A n.3497T>A c.2069T>A (p.Leu690Gln) c.1844T>A (p.Leu615Gln) c.2939T>A (p.Leu980Gln) n.354T>A c.1022-1664T>A c.*235T>A (n.*235T>A) n.3878T>A n.2479T>A c.2990T>A (p.Leu997Gln) n.480T>A c.3038T>A (p.Leu1013Gln) c.3098T>A (p.Leu1033Gln) c.2648T>A (p.Leu883Gln) c.950T>A (p.Leu317Gln) c.877-1664T>A (n.877-1664T>A) c.2999T>A (p.Leu1000Gln) c.3061-1664T>A (n.3061-1664T>A) c.2720T>A (p.Leu907Gln) c.2731-1664T>A (n.2731-1664T>A) c.1802T>A (p.Leu601Gln) n.3353T>A | |
13 | g.51944219G>A | CA483894724 | ATP7B | c.*894-1665C>T (n.*894-1665C>T) c.*1877C>T (n.*1877C>T) c.2512C>T (p.Leu838=) c.3133C>T (p.Leu1045=) c.2800C>T (p.Leu934=) c.2881C>T (p.Leu961=) c.2899C>T (p.Leu967=) n.3272C>T n.3496C>T c.2068C>T (p.Leu690=) c.1843C>T (p.Leu615=) c.2938C>T (p.Leu980=) n.353C>T c.1022-1665C>T c.*234C>T (n.*234C>T) n.3877C>T n.2478C>T c.2989C>T (p.Leu997=) n.479C>T c.3037C>T (p.Leu1013=) c.3097C>T (p.Leu1033=) c.2647C>T (p.Leu883=) c.949C>T (p.Leu317=) c.877-1665C>T (n.877-1665C>T) c.2998C>T (p.Leu1000=) c.3061-1665C>T (n.3061-1665C>T) c.2719C>T (p.Leu907=) c.2731-1665C>T (n.2731-1665C>T) c.1801C>T (p.Leu601=) n.3352C>T | |
13 | g.51944219G>C | CA388030223 | ATP7B | c.*894-1665C>G (n.*894-1665C>G) c.*1877C>G (n.*1877C>G) c.2512C>G (p.Leu838Val) c.3133C>G (p.Leu1045Val) c.2800C>G (p.Leu934Val) c.2881C>G (p.Leu961Val) c.2899C>G (p.Leu967Val) n.3272C>G n.3496C>G c.2068C>G (p.Leu690Val) c.1843C>G (p.Leu615Val) c.2938C>G (p.Leu980Val) n.353C>G c.1022-1665C>G c.*234C>G (n.*234C>G) n.3877C>G n.2478C>G c.2989C>G (p.Leu997Val) n.479C>G c.3037C>G (p.Leu1013Val) c.3097C>G (p.Leu1033Val) c.2647C>G (p.Leu883Val) c.949C>G (p.Leu317Val) c.877-1665C>G (n.877-1665C>G) c.2998C>G (p.Leu1000Val) c.3061-1665C>G (n.3061-1665C>G) c.2719C>G (p.Leu907Val) c.2731-1665C>G (n.2731-1665C>G) c.1801C>G (p.Leu601Val) n.3352C>G | ClinVar gnomAD v4 |
13 | g.51944219G>T | CA388030225 | ATP7B | c.*894-1665C>A (n.*894-1665C>A) c.*1877C>A (n.*1877C>A) c.2512C>A (p.Leu838Met) c.3133C>A (p.Leu1045Met) c.2800C>A (p.Leu934Met) c.2881C>A (p.Leu961Met) c.2899C>A (p.Leu967Met) n.3272C>A n.3496C>A c.2068C>A (p.Leu690Met) c.1843C>A (p.Leu615Met) c.2938C>A (p.Leu980Met) n.353C>A c.1022-1665C>A c.*234C>A (n.*234C>A) n.3877C>A n.2478C>A c.2989C>A (p.Leu997Met) n.479C>A c.3037C>A (p.Leu1013Met) c.3097C>A (p.Leu1033Met) c.2647C>A (p.Leu883Met) c.949C>A (p.Leu317Met) c.877-1665C>A (n.877-1665C>A) c.2998C>A (p.Leu1000Met) c.3061-1665C>A (n.3061-1665C>A) c.2719C>A (p.Leu907Met) c.2731-1665C>A (n.2731-1665C>A) c.1801C>A (p.Leu601Met) n.3352C>A | |
13 | g.51944220C>A | CA483894725 | ATP7B | c.*894-1666G>T (n.*894-1666G>T) c.*1876G>T (n.*1876G>T) c.2511G>T (p.Leu837=) c.3132G>T (p.Leu1044=) c.2799G>T (p.Leu933=) c.2880G>T (p.Leu960=) c.2898G>T (p.Leu966=) n.3271G>T n.3495G>T c.2067G>T (p.Leu689=) c.1842G>T (p.Leu614=) c.2937G>T (p.Leu979=) n.352G>T c.1022-1666G>T c.*233G>T (n.*233G>T) n.3876G>T n.2477G>T c.2988G>T (p.Leu996=) n.478G>T c.3036G>T (p.Leu1012=) c.3096G>T (p.Leu1032=) c.2646G>T (p.Leu882=) c.948G>T (p.Leu316=) c.877-1666G>T (n.877-1666G>T) c.2997G>T (p.Leu999=) c.3061-1666G>T (n.3061-1666G>T) c.2718G>T (p.Leu906=) c.2731-1666G>T (n.2731-1666G>T) c.1800G>T (p.Leu600=) n.3351G>T | ClinVar dbSNP |
13 | g.51944220C= | CA2091564020 | ATP7B | c.*894-1666G= (n.*894-1666G=) c.*1876G= (n.*1876G=) c.2511G= (p.Leu837=) c.3132G= (p.Leu1044=) c.2799G= (p.Leu933=) c.2880G= (p.Leu960=) c.2898G= (p.Leu966=) n.3271G= n.3495G= c.2067G= (p.Leu689=) c.1842G= (p.Leu614=) c.2937G= (p.Leu979=) n.352G= c.1022-1666G= c.*233G= (n.*233G=) n.3876G= n.2477G= c.2988G= (p.Leu996=) n.478G= c.3036G= (p.Leu1012=) c.3096G= (p.Leu1032=) c.2646G= (p.Leu882=) c.948G= (p.Leu316=) c.877-1666G= (n.877-1666G=) c.2997G= (p.Leu999=) c.3061-1666G= (n.3061-1666G=) c.2718G= (p.Leu906=) c.2731-1666G= (n.2731-1666G=) c.1800G= (p.Leu600=) n.3351G= | |
13 | g.51944220C>G | CA483894726 | ATP7B | c.*894-1666G>C (n.*894-1666G>C) c.*1876G>C (n.*1876G>C) c.2511G>C (p.Leu837=) c.3132G>C (p.Leu1044=) c.2799G>C (p.Leu933=) c.2880G>C (p.Leu960=) c.2898G>C (p.Leu966=) n.3271G>C n.3495G>C c.2067G>C (p.Leu689=) c.1842G>C (p.Leu614=) c.2937G>C (p.Leu979=) n.352G>C c.1022-1666G>C c.*233G>C (n.*233G>C) n.3876G>C n.2477G>C c.2988G>C (p.Leu996=) n.478G>C c.3036G>C (p.Leu1012=) c.3096G>C (p.Leu1032=) c.2646G>C (p.Leu882=) c.948G>C (p.Leu316=) c.877-1666G>C (n.877-1666G>C) c.2997G>C (p.Leu999=) c.3061-1666G>C (n.3061-1666G>C) c.2718G>C (p.Leu906=) c.2731-1666G>C (n.2731-1666G>C) c.1800G>C (p.Leu600=) n.3351G>C | gnomAD v4 |
13 | g.51944220C>T | CA483894727 | ATP7B | c.*894-1666G>A (n.*894-1666G>A) c.*1876G>A (n.*1876G>A) c.2511G>A (p.Leu837=) c.3132G>A (p.Leu1044=) c.2799G>A (p.Leu933=) c.2880G>A (p.Leu960=) c.2898G>A (p.Leu966=) n.3271G>A n.3495G>A c.2067G>A (p.Leu689=) c.1842G>A (p.Leu614=) c.2937G>A (p.Leu979=) n.352G>A c.1022-1666G>A c.*233G>A (n.*233G>A) n.3876G>A n.2477G>A c.2988G>A (p.Leu996=) n.478G>A c.3036G>A (p.Leu1012=) c.3096G>A (p.Leu1032=) c.2646G>A (p.Leu882=) c.948G>A (p.Leu316=) c.877-1666G>A (n.877-1666G>A) c.2997G>A (p.Leu999=) c.3061-1666G>A (n.3061-1666G>A) c.2718G>A (p.Leu906=) c.2731-1666G>A (n.2731-1666G>A) c.1800G>A (p.Leu600=) n.3351G>A | gnomAD v4 |
13 | g.51944221A>C | CA388030227 | ATP7B | c.*894-1667T>G (n.*894-1667T>G) c.*1875T>G (n.*1875T>G) c.2510T>G (p.Leu837Arg) c.3131T>G (p.Leu1044Arg) c.2798T>G (p.Leu933Arg) c.2879T>G (p.Leu960Arg) c.2897T>G (p.Leu966Arg) n.3270T>G n.3494T>G c.2066T>G (p.Leu689Arg) c.1841T>G (p.Leu614Arg) c.2936T>G (p.Leu979Arg) n.351T>G c.1022-1667T>G c.*232T>G (n.*232T>G) n.3875T>G n.2476T>G c.2987T>G (p.Leu996Arg) n.477T>G c.3035T>G (p.Leu1012Arg) c.3095T>G (p.Leu1032Arg) c.2645T>G (p.Leu882Arg) c.947T>G (p.Leu316Arg) c.877-1667T>G (n.877-1667T>G) c.2996T>G (p.Leu999Arg) c.3061-1667T>G (n.3061-1667T>G) c.2717T>G (p.Leu906Arg) c.2731-1667T>G (n.2731-1667T>G) c.1799T>G (p.Leu600Arg) n.3350T>G | |
13 | g.51944221A>G | CA388030241 | ATP7B | c.*894-1667T>C (n.*894-1667T>C) c.*1875T>C (n.*1875T>C) c.2510T>C (p.Leu837Pro) c.3131T>C (p.Leu1044Pro) c.2798T>C (p.Leu933Pro) c.2879T>C (p.Leu960Pro) c.2897T>C (p.Leu966Pro) n.3270T>C n.3494T>C c.2066T>C (p.Leu689Pro) c.1841T>C (p.Leu614Pro) c.2936T>C (p.Leu979Pro) n.351T>C c.1022-1667T>C c.*232T>C (n.*232T>C) n.3875T>C n.2476T>C c.2987T>C (p.Leu996Pro) n.477T>C c.3035T>C (p.Leu1012Pro) c.3095T>C (p.Leu1032Pro) c.2645T>C (p.Leu882Pro) c.947T>C (p.Leu316Pro) c.877-1667T>C (n.877-1667T>C) c.2996T>C (p.Leu999Pro) c.3061-1667T>C (n.3061-1667T>C) c.2717T>C (p.Leu906Pro) c.2731-1667T>C (n.2731-1667T>C) c.1799T>C (p.Leu600Pro) n.3350T>C | |
13 | g.51944221A>T | CA388030244 | ATP7B | c.*894-1667T>A (n.*894-1667T>A) c.*1875T>A (n.*1875T>A) c.2510T>A (p.Leu837Gln) c.3131T>A (p.Leu1044Gln) c.2798T>A (p.Leu933Gln) c.2879T>A (p.Leu960Gln) c.2897T>A (p.Leu966Gln) n.3270T>A n.3494T>A c.2066T>A (p.Leu689Gln) c.1841T>A (p.Leu614Gln) c.2936T>A (p.Leu979Gln) n.351T>A c.1022-1667T>A c.*232T>A (n.*232T>A) n.3875T>A n.2476T>A c.2987T>A (p.Leu996Gln) n.477T>A c.3035T>A (p.Leu1012Gln) c.3095T>A (p.Leu1032Gln) c.2645T>A (p.Leu882Gln) c.947T>A (p.Leu316Gln) c.877-1667T>A (n.877-1667T>A) c.2996T>A (p.Leu999Gln) c.3061-1667T>A (n.3061-1667T>A) c.2717T>A (p.Leu906Gln) c.2731-1667T>A (n.2731-1667T>A) c.1799T>A (p.Leu600Gln) n.3350T>A | |
13 | g.51944222G>A | CA483894728 | ATP7B | c.*894-1668C>T (n.*894-1668C>T) c.*1874C>T (n.*1874C>T) c.2509C>T (p.Leu837=) c.3130C>T (p.Leu1044=) c.2797C>T (p.Leu933=) c.2878C>T (p.Leu960=) c.2896C>T (p.Leu966=) n.3269C>T n.3493C>T c.2065C>T (p.Leu689=) c.1840C>T (p.Leu614=) c.2935C>T (p.Leu979=) n.350C>T c.1022-1668C>T c.*231C>T (n.*231C>T) n.3874C>T n.2475C>T c.2986C>T (p.Leu996=) n.476C>T c.3034C>T (p.Leu1012=) c.3094C>T (p.Leu1032=) c.2644C>T (p.Leu882=) c.946C>T (p.Leu316=) c.877-1668C>T (n.877-1668C>T) c.2995C>T (p.Leu999=) c.3061-1668C>T (n.3061-1668C>T) c.2716C>T (p.Leu906=) c.2731-1668C>T (n.2731-1668C>T) c.1798C>T (p.Leu600=) n.3349C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944222G>C | CA388030248 | ATP7B | c.*894-1668C>G (n.*894-1668C>G) c.*1874C>G (n.*1874C>G) c.2509C>G (p.Leu837Val) c.3130C>G (p.Leu1044Val) c.2797C>G (p.Leu933Val) c.2878C>G (p.Leu960Val) c.2896C>G (p.Leu966Val) n.3269C>G n.3493C>G c.2065C>G (p.Leu689Val) c.1840C>G (p.Leu614Val) c.2935C>G (p.Leu979Val) n.350C>G c.1022-1668C>G c.*231C>G (n.*231C>G) n.3874C>G n.2475C>G c.2986C>G (p.Leu996Val) n.476C>G c.3034C>G (p.Leu1012Val) c.3094C>G (p.Leu1032Val) c.2644C>G (p.Leu882Val) c.946C>G (p.Leu316Val) c.877-1668C>G (n.877-1668C>G) c.2995C>G (p.Leu999Val) c.3061-1668C>G (n.3061-1668C>G) c.2716C>G (p.Leu906Val) c.2731-1668C>G (n.2731-1668C>G) c.1798C>G (p.Leu600Val) n.3349C>G | gnomAD v4 |
13 | g.51944222G= | CA2091564023 | ATP7B | c.*894-1668C= (n.*894-1668C=) c.*1874C= (n.*1874C=) c.2509C= (p.Leu837=) c.3130C= (p.Leu1044=) c.2797C= (p.Leu933=) c.2878C= (p.Leu960=) c.2896C= (p.Leu966=) n.3269C= n.3493C= c.2065C= (p.Leu689=) c.1840C= (p.Leu614=) c.2935C= (p.Leu979=) n.350C= c.1022-1668C= c.*231C= (n.*231C=) n.3874C= n.2475C= c.2986C= (p.Leu996=) n.476C= c.3034C= (p.Leu1012=) c.3094C= (p.Leu1032=) c.2644C= (p.Leu882=) c.946C= (p.Leu316=) c.877-1668C= (n.877-1668C=) c.2995C= (p.Leu999=) c.3061-1668C= (n.3061-1668C=) c.2716C= (p.Leu906=) c.2731-1668C= (n.2731-1668C=) c.1798C= (p.Leu600=) n.3349C= | |
13 | g.51944222G>T | CA388030249 | ATP7B | c.*894-1668C>A (n.*894-1668C>A) c.*1874C>A (n.*1874C>A) c.2509C>A (p.Leu837Met) c.3130C>A (p.Leu1044Met) c.2797C>A (p.Leu933Met) c.2878C>A (p.Leu960Met) c.2896C>A (p.Leu966Met) n.3269C>A n.3493C>A c.2065C>A (p.Leu689Met) c.1840C>A (p.Leu614Met) c.2935C>A (p.Leu979Met) n.350C>A c.1022-1668C>A c.*231C>A (n.*231C>A) n.3874C>A n.2475C>A c.2986C>A (p.Leu996Met) n.476C>A c.3034C>A (p.Leu1012Met) c.3094C>A (p.Leu1032Met) c.2644C>A (p.Leu882Met) c.946C>A (p.Leu316Met) c.877-1668C>A (n.877-1668C>A) c.2995C>A (p.Leu999Met) c.3061-1668C>A (n.3061-1668C>A) c.2716C>A (p.Leu906Met) c.2731-1668C>A (n.2731-1668C>A) c.1798C>A (p.Leu600Met) n.3349C>A | |
13 | g.51944223G>A | CA6988799 | ATP7B | c.*894-1669C>T (n.*894-1669C>T) c.*1873C>T (n.*1873C>T) c.2508C>T (p.Leu836=) c.3129C>T (p.Leu1043=) c.2796C>T (p.Leu932=) c.2877C>T (p.Leu959=) c.2895C>T (p.Leu965=) n.3268C>T n.3492C>T c.2064C>T (p.Leu688=) c.1839C>T (p.Leu613=) c.2934C>T (p.Leu978=) n.349C>T c.1022-1669C>T c.*230C>T (n.*230C>T) n.3873C>T n.2474C>T c.2985C>T (p.Leu995=) n.475C>T c.3033C>T (p.Leu1011=) c.3093C>T (p.Leu1031=) c.2643C>T (p.Leu881=) c.945C>T (p.Leu315=) c.877-1669C>T (n.877-1669C>T) c.2994C>T (p.Leu998=) c.3061-1669C>T (n.3061-1669C>T) c.2715C>T (p.Leu905=) c.2731-1669C>T (n.2731-1669C>T) c.1797C>T (p.Leu599=) n.3348C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944223G>C | CA6988800 | ATP7B | c.*894-1669C>G (n.*894-1669C>G) c.*1873C>G (n.*1873C>G) c.2508C>G (p.Leu836=) c.3129C>G (p.Leu1043=) c.2796C>G (p.Leu932=) c.2877C>G (p.Leu959=) c.2895C>G (p.Leu965=) n.3268C>G n.3492C>G c.2064C>G (p.Leu688=) c.1839C>G (p.Leu613=) c.2934C>G (p.Leu978=) n.349C>G c.1022-1669C>G c.*230C>G (n.*230C>G) n.3873C>G n.2474C>G c.2985C>G (p.Leu995=) n.475C>G c.3033C>G (p.Leu1011=) c.3093C>G (p.Leu1031=) c.2643C>G (p.Leu881=) c.945C>G (p.Leu315=) c.877-1669C>G (n.877-1669C>G) c.2994C>G (p.Leu998=) c.3061-1669C>G (n.3061-1669C>G) c.2715C>G (p.Leu905=) c.2731-1669C>G (n.2731-1669C>G) c.1797C>G (p.Leu599=) n.3348C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944223G= | CA2091564026 | ATP7B | c.*894-1669C= (n.*894-1669C=) c.*1873C= (n.*1873C=) c.2508C= (p.Leu836=) c.3129C= (p.Leu1043=) c.2796C= (p.Leu932=) c.2877C= (p.Leu959=) c.2895C= (p.Leu965=) n.3268C= n.3492C= c.2064C= (p.Leu688=) c.1839C= (p.Leu613=) c.2934C= (p.Leu978=) n.349C= c.1022-1669C= c.*230C= (n.*230C=) n.3873C= n.2474C= c.2985C= (p.Leu995=) n.475C= c.3033C= (p.Leu1011=) c.3093C= (p.Leu1031=) c.2643C= (p.Leu881=) c.945C= (p.Leu315=) c.877-1669C= (n.877-1669C=) c.2994C= (p.Leu998=) c.3061-1669C= (n.3061-1669C=) c.2715C= (p.Leu905=) c.2731-1669C= (n.2731-1669C=) c.1797C= (p.Leu599=) n.3348C= | |
13 | g.51944223G>T | CA483894729 | ATP7B | c.*894-1669C>A (n.*894-1669C>A) c.*1873C>A (n.*1873C>A) c.2508C>A (p.Leu836=) c.3129C>A (p.Leu1043=) c.2796C>A (p.Leu932=) c.2877C>A (p.Leu959=) c.2895C>A (p.Leu965=) n.3268C>A n.3492C>A c.2064C>A (p.Leu688=) c.1839C>A (p.Leu613=) c.2934C>A (p.Leu978=) n.349C>A c.1022-1669C>A c.*230C>A (n.*230C>A) n.3873C>A n.2474C>A c.2985C>A (p.Leu995=) n.475C>A c.3033C>A (p.Leu1011=) c.3093C>A (p.Leu1031=) c.2643C>A (p.Leu881=) c.945C>A (p.Leu315=) c.877-1669C>A (n.877-1669C>A) c.2994C>A (p.Leu998=) c.3061-1669C>A (n.3061-1669C>A) c.2715C>A (p.Leu905=) c.2731-1669C>A (n.2731-1669C>A) c.1797C>A (p.Leu599=) n.3348C>A | |
13 | g.51944224A= | CA2091564034 | ATP7B | c.*894-1670T= (n.*894-1670T=) c.*1872T= (n.*1872T=) c.2507T= (p.Leu836=) c.3128T= (p.Leu1043=) c.2795T= (p.Leu932=) c.2876T= (p.Leu959=) c.2894T= (p.Leu965=) n.3267T= n.3491T= c.2063T= (p.Leu688=) c.1838T= (p.Leu613=) c.2933T= (p.Leu978=) n.348T= c.1022-1670T= c.*229T= (n.*229T=) n.3872T= n.2473T= c.2984T= (p.Leu995=) n.474T= c.3032T= (p.Leu1011=) c.3092T= (p.Leu1031=) c.2642T= (p.Leu881=) c.944T= (p.Leu315=) c.877-1670T= (n.877-1670T=) c.2993T= (p.Leu998=) c.3061-1670T= (n.3061-1670T=) c.2714T= (p.Leu905=) c.2731-1670T= (n.2731-1670T=) c.1796T= (p.Leu599=) n.3347T= | |
13 | g.51944224A>C | CA388030262 | ATP7B | c.*894-1670T>G (n.*894-1670T>G) c.*1872T>G (n.*1872T>G) c.2507T>G (p.Leu836Arg) c.3128T>G (p.Leu1043Arg) c.2795T>G (p.Leu932Arg) c.2876T>G (p.Leu959Arg) c.2894T>G (p.Leu965Arg) n.3267T>G n.3491T>G c.2063T>G (p.Leu688Arg) c.1838T>G (p.Leu613Arg) c.2933T>G (p.Leu978Arg) n.348T>G c.1022-1670T>G c.*229T>G (n.*229T>G) n.3872T>G n.2473T>G c.2984T>G (p.Leu995Arg) n.474T>G c.3032T>G (p.Leu1011Arg) c.3092T>G (p.Leu1031Arg) c.2642T>G (p.Leu881Arg) c.944T>G (p.Leu315Arg) c.877-1670T>G (n.877-1670T>G) c.2993T>G (p.Leu998Arg) c.3061-1670T>G (n.3061-1670T>G) c.2714T>G (p.Leu905Arg) c.2731-1670T>G (n.2731-1670T>G) c.1796T>G (p.Leu599Arg) n.3347T>G | |
13 | g.51944224A>G | CA388030271 | ATP7B | c.*894-1670T>C (n.*894-1670T>C) c.*1872T>C (n.*1872T>C) c.2507T>C (p.Leu836Pro) c.3128T>C (p.Leu1043Pro) c.2795T>C (p.Leu932Pro) c.2876T>C (p.Leu959Pro) c.2894T>C (p.Leu965Pro) n.3267T>C n.3491T>C c.2063T>C (p.Leu688Pro) c.1838T>C (p.Leu613Pro) c.2933T>C (p.Leu978Pro) n.348T>C c.1022-1670T>C c.*229T>C (n.*229T>C) n.3872T>C n.2473T>C c.2984T>C (p.Leu995Pro) n.474T>C c.3032T>C (p.Leu1011Pro) c.3092T>C (p.Leu1031Pro) c.2642T>C (p.Leu881Pro) c.944T>C (p.Leu315Pro) c.877-1670T>C (n.877-1670T>C) c.2993T>C (p.Leu998Pro) c.3061-1670T>C (n.3061-1670T>C) c.2714T>C (p.Leu905Pro) c.2731-1670T>C (n.2731-1670T>C) c.1796T>C (p.Leu599Pro) n.3347T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.51944224A>T | CA388030260 | ATP7B | c.*894-1670T>A (n.*894-1670T>A) c.*1872T>A (n.*1872T>A) c.2507T>A (p.Leu836His) c.3128T>A (p.Leu1043His) c.2795T>A (p.Leu932His) c.2876T>A (p.Leu959His) c.2894T>A (p.Leu965His) n.3267T>A n.3491T>A c.2063T>A (p.Leu688His) c.1838T>A (p.Leu613His) c.2933T>A (p.Leu978His) n.348T>A c.1022-1670T>A c.*229T>A (n.*229T>A) n.3872T>A n.2473T>A c.2984T>A (p.Leu995His) n.474T>A c.3032T>A (p.Leu1011His) c.3092T>A (p.Leu1031His) c.2642T>A (p.Leu881His) c.944T>A (p.Leu315His) c.877-1670T>A (n.877-1670T>A) c.2993T>A (p.Leu998His) c.3061-1670T>A (n.3061-1670T>A) c.2714T>A (p.Leu905His) c.2731-1670T>A (n.2731-1670T>A) c.1796T>A (p.Leu599His) n.3347T>A | |
13 | g.51944225G>A | CA388030274 | ATP7B | c.*894-1671C>T (n.*894-1671C>T) c.*1871C>T (n.*1871C>T) c.2506C>T (p.Leu836Phe) c.3127C>T (p.Leu1043Phe) c.2794C>T (p.Leu932Phe) c.2875C>T (p.Leu959Phe) c.2893C>T (p.Leu965Phe) n.3266C>T n.3490C>T c.2062C>T (p.Leu688Phe) c.1837C>T (p.Leu613Phe) c.2932C>T (p.Leu978Phe) n.347C>T c.1022-1671C>T c.*228C>T (n.*228C>T) n.3871C>T n.2472C>T c.2983C>T (p.Leu995Phe) n.473C>T c.3031C>T (p.Leu1011Phe) c.3091C>T (p.Leu1031Phe) c.2641C>T (p.Leu881Phe) c.943C>T (p.Leu315Phe) c.877-1671C>T (n.877-1671C>T) c.2992C>T (p.Leu998Phe) c.3061-1671C>T (n.3061-1671C>T) c.2713C>T (p.Leu905Phe) c.2731-1671C>T (n.2731-1671C>T) c.1795C>T (p.Leu599Phe) n.3346C>T | |
13 | g.51944225G>C | CA388030276 | ATP7B | c.*894-1671C>G (n.*894-1671C>G) c.*1871C>G (n.*1871C>G) c.2506C>G (p.Leu836Val) c.3127C>G (p.Leu1043Val) c.2794C>G (p.Leu932Val) c.2875C>G (p.Leu959Val) c.2893C>G (p.Leu965Val) n.3266C>G n.3490C>G c.2062C>G (p.Leu688Val) c.1837C>G (p.Leu613Val) c.2932C>G (p.Leu978Val) n.347C>G c.1022-1671C>G c.*228C>G (n.*228C>G) n.3871C>G n.2472C>G c.2983C>G (p.Leu995Val) n.473C>G c.3031C>G (p.Leu1011Val) c.3091C>G (p.Leu1031Val) c.2641C>G (p.Leu881Val) c.943C>G (p.Leu315Val) c.877-1671C>G (n.877-1671C>G) c.2992C>G (p.Leu998Val) c.3061-1671C>G (n.3061-1671C>G) c.2713C>G (p.Leu905Val) c.2731-1671C>G (n.2731-1671C>G) c.1795C>G (p.Leu599Val) n.3346C>G | |
13 | g.51944225G>T | CA388030278 | ATP7B | c.*894-1671C>A (n.*894-1671C>A) c.*1871C>A (n.*1871C>A) c.2506C>A (p.Leu836Ile) c.3127C>A (p.Leu1043Ile) c.2794C>A (p.Leu932Ile) c.2875C>A (p.Leu959Ile) c.2893C>A (p.Leu965Ile) n.3266C>A n.3490C>A c.2062C>A (p.Leu688Ile) c.1837C>A (p.Leu613Ile) c.2932C>A (p.Leu978Ile) n.347C>A c.1022-1671C>A c.*228C>A (n.*228C>A) n.3871C>A n.2472C>A c.2983C>A (p.Leu995Ile) n.473C>A c.3031C>A (p.Leu1011Ile) c.3091C>A (p.Leu1031Ile) c.2641C>A (p.Leu881Ile) c.943C>A (p.Leu315Ile) c.877-1671C>A (n.877-1671C>A) c.2992C>A (p.Leu998Ile) c.3061-1671C>A (n.3061-1671C>A) c.2713C>A (p.Leu905Ile) c.2731-1671C>A (n.2731-1671C>A) c.1795C>A (p.Leu599Ile) n.3346C>A | |
13 | g.51944226C>A | CA483894730 | ATP7B | c.*894-1672G>T (n.*894-1672G>T) c.*1870G>T (n.*1870G>T) c.2505G>T (p.Val835=) c.3126G>T (p.Val1042=) c.2793G>T (p.Val931=) c.2874G>T (p.Val958=) c.2892G>T (p.Val964=) n.3265G>T n.3489G>T c.2061G>T (p.Val687=) c.1836G>T (p.Val612=) c.2931G>T (p.Val977=) n.346G>T c.1022-1672G>T c.*227G>T (n.*227G>T) n.3870G>T n.2471G>T c.2982G>T (p.Val994=) n.472G>T c.3030G>T (p.Val1010=) c.3090G>T (p.Val1030=) c.2640G>T (p.Val880=) c.942G>T (p.Val314=) c.877-1672G>T (n.877-1672G>T) c.2991G>T (p.Val997=) c.3061-1672G>T (n.3061-1672G>T) c.2712G>T (p.Val904=) c.2731-1672G>T (n.2731-1672G>T) c.1794G>T (p.Val598=) n.3345G>T | |
13 | g.51944226C>G | CA483894731 | ATP7B | c.*894-1672G>C (n.*894-1672G>C) c.*1870G>C (n.*1870G>C) c.2505G>C (p.Val835=) c.3126G>C (p.Val1042=) c.2793G>C (p.Val931=) c.2874G>C (p.Val958=) c.2892G>C (p.Val964=) n.3265G>C n.3489G>C c.2061G>C (p.Val687=) c.1836G>C (p.Val612=) c.2931G>C (p.Val977=) n.346G>C c.1022-1672G>C c.*227G>C (n.*227G>C) n.3870G>C n.2471G>C c.2982G>C (p.Val994=) n.472G>C c.3030G>C (p.Val1010=) c.3090G>C (p.Val1030=) c.2640G>C (p.Val880=) c.942G>C (p.Val314=) c.877-1672G>C (n.877-1672G>C) c.2991G>C (p.Val997=) c.3061-1672G>C (n.3061-1672G>C) c.2712G>C (p.Val904=) c.2731-1672G>C (n.2731-1672G>C) c.1794G>C (p.Val598=) n.3345G>C | |
13 | g.51944226C>T | CA483894732 | ATP7B | c.*894-1672G>A (n.*894-1672G>A) c.*1870G>A (n.*1870G>A) c.2505G>A (p.Val835=) c.3126G>A (p.Val1042=) c.2793G>A (p.Val931=) c.2874G>A (p.Val958=) c.2892G>A (p.Val964=) n.3265G>A n.3489G>A c.2061G>A (p.Val687=) c.1836G>A (p.Val612=) c.2931G>A (p.Val977=) n.346G>A c.1022-1672G>A c.*227G>A (n.*227G>A) n.3870G>A n.2471G>A c.2982G>A (p.Val994=) n.472G>A c.3030G>A (p.Val1010=) c.3090G>A (p.Val1030=) c.2640G>A (p.Val880=) c.942G>A (p.Val314=) c.877-1672G>A (n.877-1672G>A) c.2991G>A (p.Val997=) c.3061-1672G>A (n.3061-1672G>A) c.2712G>A (p.Val904=) c.2731-1672G>A (n.2731-1672G>A) c.1794G>A (p.Val598=) n.3345G>A | ClinVar |
13 | g.51944227A>C | CA388030280 | ATP7B | c.*894-1673T>G (n.*894-1673T>G) c.*1869T>G (n.*1869T>G) c.2504T>G (p.Val835Gly) c.3125T>G (p.Val1042Gly) c.2792T>G (p.Val931Gly) c.2873T>G (p.Val958Gly) c.2891T>G (p.Val964Gly) n.3264T>G n.3488T>G c.2060T>G (p.Val687Gly) c.1835T>G (p.Val612Gly) c.2930T>G (p.Val977Gly) n.345T>G c.1022-1673T>G c.*226T>G (n.*226T>G) n.3869T>G n.2470T>G c.2981T>G (p.Val994Gly) n.471T>G c.3029T>G (p.Val1010Gly) c.3089T>G (p.Val1030Gly) c.2639T>G (p.Val880Gly) c.941T>G (p.Val314Gly) c.877-1673T>G (n.877-1673T>G) c.2990T>G (p.Val997Gly) c.3061-1673T>G (n.3061-1673T>G) c.2711T>G (p.Val904Gly) c.2731-1673T>G (n.2731-1673T>G) c.1793T>G (p.Val598Gly) n.3344T>G | |
13 | g.51944227A>G | CA388030284 | ATP7B | c.*894-1673T>C (n.*894-1673T>C) c.*1869T>C (n.*1869T>C) c.2504T>C (p.Val835Ala) c.3125T>C (p.Val1042Ala) c.2792T>C (p.Val931Ala) c.2873T>C (p.Val958Ala) c.2891T>C (p.Val964Ala) n.3264T>C n.3488T>C c.2060T>C (p.Val687Ala) c.1835T>C (p.Val612Ala) c.2930T>C (p.Val977Ala) n.345T>C c.1022-1673T>C c.*226T>C (n.*226T>C) n.3869T>C n.2470T>C c.2981T>C (p.Val994Ala) n.471T>C c.3029T>C (p.Val1010Ala) c.3089T>C (p.Val1030Ala) c.2639T>C (p.Val880Ala) c.941T>C (p.Val314Ala) c.877-1673T>C (n.877-1673T>C) c.2990T>C (p.Val997Ala) c.3061-1673T>C (n.3061-1673T>C) c.2711T>C (p.Val904Ala) c.2731-1673T>C (n.2731-1673T>C) c.1793T>C (p.Val598Ala) n.3344T>C | |
13 | g.51944227A>T | CA388030287 | ATP7B | c.*894-1673T>A (n.*894-1673T>A) c.*1869T>A (n.*1869T>A) c.2504T>A (p.Val835Glu) c.3125T>A (p.Val1042Glu) c.2792T>A (p.Val931Glu) c.2873T>A (p.Val958Glu) c.2891T>A (p.Val964Glu) n.3264T>A n.3488T>A c.2060T>A (p.Val687Glu) c.1835T>A (p.Val612Glu) c.2930T>A (p.Val977Glu) n.345T>A c.1022-1673T>A c.*226T>A (n.*226T>A) n.3869T>A n.2470T>A c.2981T>A (p.Val994Glu) n.471T>A c.3029T>A (p.Val1010Glu) c.3089T>A (p.Val1030Glu) c.2639T>A (p.Val880Glu) c.941T>A (p.Val314Glu) c.877-1673T>A (n.877-1673T>A) c.2990T>A (p.Val997Glu) c.3061-1673T>A (n.3061-1673T>A) c.2711T>A (p.Val904Glu) c.2731-1673T>A (n.2731-1673T>A) c.1793T>A (p.Val598Glu) n.3344T>A | |
13 | g.51944228C>A | CA6988801 | ATP7B | c.*894-1674G>T (n.*894-1674G>T) c.*1868G>T (n.*1868G>T) c.2503G>T (p.Val835Leu) c.3124G>T (p.Val1042Leu) c.2791G>T (p.Val931Leu) c.2872G>T (p.Val958Leu) c.2890G>T (p.Val964Leu) n.3263G>T n.3487G>T c.2059G>T (p.Val687Leu) c.1834G>T (p.Val612Leu) c.2929G>T (p.Val977Leu) n.344G>T c.1022-1674G>T c.*225G>T (n.*225G>T) n.3868G>T n.2469G>T c.2980G>T (p.Val994Leu) n.470G>T c.3028G>T (p.Val1010Leu) c.3088G>T (p.Val1030Leu) c.2638G>T (p.Val880Leu) c.940G>T (p.Val314Leu) c.877-1674G>T (n.877-1674G>T) c.2989G>T (p.Val997Leu) c.3061-1674G>T (n.3061-1674G>T) c.2710G>T (p.Val904Leu) c.2731-1674G>T (n.2731-1674G>T) c.1792G>T (p.Val598Leu) n.3343G>T | dbSNP ExAC gnomAD v2 |
13 | g.51944228C= | CA2091564044 | ATP7B | c.*894-1674G= (n.*894-1674G=) c.*1868G= (n.*1868G=) c.2503G= (p.Val835=) c.3124G= (p.Val1042=) c.2791G= (p.Val931=) c.2872G= (p.Val958=) c.2890G= (p.Val964=) n.3263G= n.3487G= c.2059G= (p.Val687=) c.1834G= (p.Val612=) c.2929G= (p.Val977=) n.344G= c.1022-1674G= c.*225G= (n.*225G=) n.3868G= n.2469G= c.2980G= (p.Val994=) n.470G= c.3028G= (p.Val1010=) c.3088G= (p.Val1030=) c.2638G= (p.Val880=) c.940G= (p.Val314=) c.877-1674G= (n.877-1674G=) c.2989G= (p.Val997=) c.3061-1674G= (n.3061-1674G=) c.2710G= (p.Val904=) c.2731-1674G= (n.2731-1674G=) c.1792G= (p.Val598=) n.3343G= | |
13 | g.51944228C>G | CA388030299 | ATP7B | c.*894-1674G>C (n.*894-1674G>C) c.*1868G>C (n.*1868G>C) c.2503G>C (p.Val835Leu) c.3124G>C (p.Val1042Leu) c.2791G>C (p.Val931Leu) c.2872G>C (p.Val958Leu) c.2890G>C (p.Val964Leu) n.3263G>C n.3487G>C c.2059G>C (p.Val687Leu) c.1834G>C (p.Val612Leu) c.2929G>C (p.Val977Leu) n.344G>C c.1022-1674G>C c.*225G>C (n.*225G>C) n.3868G>C n.2469G>C c.2980G>C (p.Val994Leu) n.470G>C c.3028G>C (p.Val1010Leu) c.3088G>C (p.Val1030Leu) c.2638G>C (p.Val880Leu) c.940G>C (p.Val314Leu) c.877-1674G>C (n.877-1674G>C) c.2989G>C (p.Val997Leu) c.3061-1674G>C (n.3061-1674G>C) c.2710G>C (p.Val904Leu) c.2731-1674G>C (n.2731-1674G>C) c.1792G>C (p.Val598Leu) n.3343G>C | |
13 | g.51944228C>T | CA388030296 | ATP7B | c.*894-1674G>A (n.*894-1674G>A) c.*1868G>A (n.*1868G>A) c.2503G>A (p.Val835Met) c.3124G>A (p.Val1042Met) c.2791G>A (p.Val931Met) c.2872G>A (p.Val958Met) c.2890G>A (p.Val964Met) n.3263G>A n.3487G>A c.2059G>A (p.Val687Met) c.1834G>A (p.Val612Met) c.2929G>A (p.Val977Met) n.344G>A c.1022-1674G>A c.*225G>A (n.*225G>A) n.3868G>A n.2469G>A c.2980G>A (p.Val994Met) n.470G>A c.3028G>A (p.Val1010Met) c.3088G>A (p.Val1030Met) c.2638G>A (p.Val880Met) c.940G>A (p.Val314Met) c.877-1674G>A (n.877-1674G>A) c.2989G>A (p.Val997Met) c.3061-1674G>A (n.3061-1674G>A) c.2710G>A (p.Val904Met) c.2731-1674G>A (n.2731-1674G>A) c.1792G>A (p.Val598Met) n.3343G>A | |
13 | g.51944230dup | CA2739277656 | ATP7B | c.*894-1674dup (n.*894-1674dup) c.*1868dup (n.*1868dup) c.2503dup (p.Val835GlyfsTer27) c.3124dup (p.Val1042GlyfsTer27) c.2791dup (p.Val931GlyfsTer27) c.2872dup (p.Val958GlyfsTer27) c.2890dup (p.Val964GlyfsTer27) n.3263dup n.3487dup c.2059dup (p.Val687GlyfsTer27) c.1834dup (p.Val612GlyfsTer27) c.2929dup (p.Val977GlyfsTer27) n.344dup c.1022-1674dup c.*225dup (n.*225dup) n.3868dup n.2469dup c.2980dup (p.Val994GlyfsTer27) n.470dup c.3028dup (p.Val1010GlyfsTer27) c.3088dup (p.Val1030GlyfsTer27) c.2638dup (p.Val880GlyfsTer27) c.940dup (p.Val314GlyfsTer27) c.877-1674dup (n.877-1674dup) c.2989dup (p.Val997GlyfsTer27) c.3061-1674dup (n.3061-1674dup) c.2710dup (p.Val904GlyfsTer27) c.2731-1674dup (n.2731-1674dup) c.1792dup (p.Val598GlyfsTer27) n.3343dup | ClinVar |
13 | g.51944230del | CA2695218745 | ATP7B | c.*894-1674del (n.*894-1674del) c.*1868del (n.*1868del) c.2503del (p.Val835CysfsTer?) c.3124del (p.Val1042CysfsTer?) c.2791del (p.Val931CysfsTer?) c.2872del (p.Val958CysfsTer?) c.2890del (p.Val964CysfsTer?) n.3263del n.3487del c.2059del (p.Val687CysfsTer?) c.1834del (p.Val612CysfsTer?) c.2929del (p.Val977CysfsTer?) n.344del c.1022-1674del c.*225del (n.*225del) n.3868del n.2469del c.2980del (p.Val994CysfsTer?) n.470del c.3028del (p.Val1010CysfsTer?) c.3088del (p.Val1030CysfsTer?) c.2638del (p.Val880CysfsTer?) c.940del (p.Val314CysfsTer?) c.877-1674del (n.877-1674del) c.2989del (p.Val997CysfsTer?) c.3061-1674del (n.3061-1674del) c.2710del (p.Val904CysfsTer?) c.2731-1674del (n.2731-1674del) c.1792del (p.Val598CysfsTer?) n.3343del | |
13 | g.51944229C>A | CA483894733 | ATP7B | c.*894-1675G>T (n.*894-1675G>T) c.*1867G>T (n.*1867G>T) c.2502G>T (p.Arg834=) c.3123G>T (p.Arg1041=) c.2790G>T (p.Arg930=) c.2871G>T (p.Arg957=) c.2889G>T (p.Arg963=) n.3262G>T n.3486G>T c.2058G>T (p.Arg686=) c.1833G>T (p.Arg611=) c.2928G>T (p.Arg976=) n.343G>T c.1022-1675G>T c.*224G>T (n.*224G>T) n.3867G>T n.2468G>T c.2979G>T (p.Arg993=) n.469G>T c.3027G>T (p.Arg1009=) c.3087G>T (p.Arg1029=) c.2637G>T (p.Arg879=) c.939G>T (p.Arg313=) c.877-1675G>T (n.877-1675G>T) c.2988G>T (p.Arg996=) c.3061-1675G>T (n.3061-1675G>T) c.2709G>T (p.Arg903=) c.2731-1675G>T (n.2731-1675G>T) c.1791G>T (p.Arg597=) n.3342G>T | |
13 | g.51944229C= | CA2091564049 | ATP7B | c.*894-1675G= (n.*894-1675G=) c.*1867G= (n.*1867G=) c.2502G= (p.Arg834=) c.3123G= (p.Arg1041=) c.2790G= (p.Arg930=) c.2871G= (p.Arg957=) c.2889G= (p.Arg963=) n.3262G= n.3486G= c.2058G= (p.Arg686=) c.1833G= (p.Arg611=) c.2928G= (p.Arg976=) n.343G= c.1022-1675G= c.*224G= (n.*224G=) n.3867G= n.2468G= c.2979G= (p.Arg993=) n.469G= c.3027G= (p.Arg1009=) c.3087G= (p.Arg1029=) c.2637G= (p.Arg879=) c.939G= (p.Arg313=) c.877-1675G= (n.877-1675G=) c.2988G= (p.Arg996=) c.3061-1675G= (n.3061-1675G=) c.2709G= (p.Arg903=) c.2731-1675G= (n.2731-1675G=) c.1791G= (p.Arg597=) n.3342G= | |
13 | g.51944229C>G | CA483894735 | ATP7B | c.*894-1675G>C (n.*894-1675G>C) c.*1867G>C (n.*1867G>C) c.2502G>C (p.Arg834=) c.3123G>C (p.Arg1041=) c.2790G>C (p.Arg930=) c.2871G>C (p.Arg957=) c.2889G>C (p.Arg963=) n.3262G>C n.3486G>C c.2058G>C (p.Arg686=) c.1833G>C (p.Arg611=) c.2928G>C (p.Arg976=) n.343G>C c.1022-1675G>C c.*224G>C (n.*224G>C) n.3867G>C n.2468G>C c.2979G>C (p.Arg993=) n.469G>C c.3027G>C (p.Arg1009=) c.3087G>C (p.Arg1029=) c.2637G>C (p.Arg879=) c.939G>C (p.Arg313=) c.877-1675G>C (n.877-1675G>C) c.2988G>C (p.Arg996=) c.3061-1675G>C (n.3061-1675G>C) c.2709G>C (p.Arg903=) c.2731-1675G>C (n.2731-1675G>C) c.1791G>C (p.Arg597=) n.3342G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944229C>T | CA483894734 | ATP7B | c.*894-1675G>A (n.*894-1675G>A) c.*1867G>A (n.*1867G>A) c.2502G>A (p.Arg834=) c.3123G>A (p.Arg1041=) c.2790G>A (p.Arg930=) c.2871G>A (p.Arg957=) c.2889G>A (p.Arg963=) n.3262G>A n.3486G>A c.2058G>A (p.Arg686=) c.1833G>A (p.Arg611=) c.2928G>A (p.Arg976=) n.343G>A c.1022-1675G>A c.*224G>A (n.*224G>A) n.3867G>A n.2468G>A c.2979G>A (p.Arg993=) n.469G>A c.3027G>A (p.Arg1009=) c.3087G>A (p.Arg1029=) c.2637G>A (p.Arg879=) c.939G>A (p.Arg313=) c.877-1675G>A (n.877-1675G>A) c.2988G>A (p.Arg996=) c.3061-1675G>A (n.3061-1675G>A) c.2709G>A (p.Arg903=) c.2731-1675G>A (n.2731-1675G>A) c.1791G>A (p.Arg597=) n.3342G>A | |
13 | g.51944230C>A | CA388030302 | ATP7B | c.*894-1676G>T (n.*894-1676G>T) c.*1866G>T (n.*1866G>T) c.2501G>T (p.Arg834Leu) c.3122G>T (p.Arg1041Leu) c.2789G>T (p.Arg930Leu) c.2870G>T (p.Arg957Leu) c.2888G>T (p.Arg963Leu) n.3261G>T n.3485G>T c.2057G>T (p.Arg686Leu) c.1832G>T (p.Arg611Leu) c.2927G>T (p.Arg976Leu) n.342G>T c.1022-1676G>T c.*223G>T (n.*223G>T) n.3866G>T n.2467G>T c.2978G>T (p.Arg993Leu) n.468G>T c.3026G>T (p.Arg1009Leu) c.3086G>T (p.Arg1029Leu) c.2636G>T (p.Arg879Leu) c.938G>T (p.Arg313Leu) c.877-1676G>T (n.877-1676G>T) c.2987G>T (p.Arg996Leu) c.3061-1676G>T (n.3061-1676G>T) c.2708G>T (p.Arg903Leu) c.2731-1676G>T (n.2731-1676G>T) c.1790G>T (p.Arg597Leu) n.3341G>T | ClinVar |
13 | g.51944230C>G | CA388030304 | ATP7B | c.*894-1676G>C (n.*894-1676G>C) c.*1866G>C (n.*1866G>C) c.2501G>C (p.Arg834Pro) c.3122G>C (p.Arg1041Pro) c.2789G>C (p.Arg930Pro) c.2870G>C (p.Arg957Pro) c.2888G>C (p.Arg963Pro) n.3261G>C n.3485G>C c.2057G>C (p.Arg686Pro) c.1832G>C (p.Arg611Pro) c.2927G>C (p.Arg976Pro) n.342G>C c.1022-1676G>C c.*223G>C (n.*223G>C) n.3866G>C n.2467G>C c.2978G>C (p.Arg993Pro) n.468G>C c.3026G>C (p.Arg1009Pro) c.3086G>C (p.Arg1029Pro) c.2636G>C (p.Arg879Pro) c.938G>C (p.Arg313Pro) c.877-1676G>C (n.877-1676G>C) c.2987G>C (p.Arg996Pro) c.3061-1676G>C (n.3061-1676G>C) c.2708G>C (p.Arg903Pro) c.2731-1676G>C (n.2731-1676G>C) c.1790G>C (p.Arg597Pro) n.3341G>C | ClinVar |
13 | g.51944230C>T | CA388030306 | ATP7B | c.*894-1676G>A (n.*894-1676G>A) c.*1866G>A (n.*1866G>A) c.2501G>A (p.Arg834Gln) c.3122G>A (p.Arg1041Gln) c.2789G>A (p.Arg930Gln) c.2870G>A (p.Arg957Gln) c.2888G>A (p.Arg963Gln) n.3261G>A n.3485G>A c.2057G>A (p.Arg686Gln) c.1832G>A (p.Arg611Gln) c.2927G>A (p.Arg976Gln) n.342G>A c.1022-1676G>A c.*223G>A (n.*223G>A) n.3866G>A n.2467G>A c.2978G>A (p.Arg993Gln) n.468G>A c.3026G>A (p.Arg1009Gln) c.3086G>A (p.Arg1029Gln) c.2636G>A (p.Arg879Gln) c.938G>A (p.Arg313Gln) c.877-1676G>A (n.877-1676G>A) c.2987G>A (p.Arg996Gln) c.3061-1676G>A (n.3061-1676G>A) c.2708G>A (p.Arg903Gln) c.2731-1676G>A (n.2731-1676G>A) c.1790G>A (p.Arg597Gln) n.3341G>A | ClinVar gnomAD v4 |
13 | g.51944231G>A | CA6988802 | ATP7B | c.*894-1677C>T (n.*894-1677C>T) c.*1865C>T (n.*1865C>T) c.2500C>T (p.Arg834Trp) c.3121C>T (p.Arg1041Trp) c.2788C>T (p.Arg930Trp) c.2869C>T (p.Arg957Trp) c.2887C>T (p.Arg963Trp) n.3260C>T n.3484C>T c.2056C>T (p.Arg686Trp) c.1831C>T (p.Arg611Trp) c.2926C>T (p.Arg976Trp) n.341C>T c.1022-1677C>T c.*222C>T (n.*222C>T) n.3865C>T n.2466C>T c.2977C>T (p.Arg993Trp) n.467C>T c.3025C>T (p.Arg1009Trp) c.3085C>T (p.Arg1029Trp) c.2635C>T (p.Arg879Trp) c.937C>T (p.Arg313Trp) c.877-1677C>T (n.877-1677C>T) c.2986C>T (p.Arg996Trp) c.3061-1677C>T (n.3061-1677C>T) c.2707C>T (p.Arg903Trp) c.2731-1677C>T (n.2731-1677C>T) c.1789C>T (p.Arg597Trp) n.3340C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944231G>C | CA6988803 | ATP7B | c.*894-1677C>G (n.*894-1677C>G) c.*1865C>G (n.*1865C>G) c.2500C>G (p.Arg834Gly) c.3121C>G (p.Arg1041Gly) c.2788C>G (p.Arg930Gly) c.2869C>G (p.Arg957Gly) c.2887C>G (p.Arg963Gly) n.3260C>G n.3484C>G c.2056C>G (p.Arg686Gly) c.1831C>G (p.Arg611Gly) c.2926C>G (p.Arg976Gly) n.341C>G c.1022-1677C>G c.*222C>G (n.*222C>G) n.3865C>G n.2466C>G c.2977C>G (p.Arg993Gly) n.467C>G c.3025C>G (p.Arg1009Gly) c.3085C>G (p.Arg1029Gly) c.2635C>G (p.Arg879Gly) c.937C>G (p.Arg313Gly) c.877-1677C>G (n.877-1677C>G) c.2986C>G (p.Arg996Gly) c.3061-1677C>G (n.3061-1677C>G) c.2707C>G (p.Arg903Gly) c.2731-1677C>G (n.2731-1677C>G) c.1789C>G (p.Arg597Gly) n.3340C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944231G= | CA2091564053 | ATP7B | c.*894-1677C= (n.*894-1677C=) c.*1865C= (n.*1865C=) c.2500C= (p.Arg834=) c.3121C= (p.Arg1041=) c.2788C= (p.Arg930=) c.2869C= (p.Arg957=) c.2887C= (p.Arg963=) n.3260C= n.3484C= c.2056C= (p.Arg686=) c.1831C= (p.Arg611=) c.2926C= (p.Arg976=) n.341C= c.1022-1677C= c.*222C= (n.*222C=) n.3865C= n.2466C= c.2977C= (p.Arg993=) n.467C= c.3025C= (p.Arg1009=) c.3085C= (p.Arg1029=) c.2635C= (p.Arg879=) c.937C= (p.Arg313=) c.877-1677C= (n.877-1677C=) c.2986C= (p.Arg996=) c.3061-1677C= (n.3061-1677C=) c.2707C= (p.Arg903=) c.2731-1677C= (n.2731-1677C=) c.1789C= (p.Arg597=) n.3340C= | |
13 | g.51944231G>T | CA483894736 | ATP7B | c.*894-1677C>A (n.*894-1677C>A) c.*1865C>A (n.*1865C>A) c.2500C>A (p.Arg834=) c.3121C>A (p.Arg1041=) c.2788C>A (p.Arg930=) c.2869C>A (p.Arg957=) c.2887C>A (p.Arg963=) n.3260C>A n.3484C>A c.2056C>A (p.Arg686=) c.1831C>A (p.Arg611=) c.2926C>A (p.Arg976=) n.341C>A c.1022-1677C>A c.*222C>A (n.*222C>A) n.3865C>A n.2466C>A c.2977C>A (p.Arg993=) n.467C>A c.3025C>A (p.Arg1009=) c.3085C>A (p.Arg1029=) c.2635C>A (p.Arg879=) c.937C>A (p.Arg313=) c.877-1677C>A (n.877-1677C>A) c.2986C>A (p.Arg996=) c.3061-1677C>A (n.3061-1677C>A) c.2707C>A (p.Arg903=) c.2731-1677C>A (n.2731-1677C>A) c.1789C>A (p.Arg597=) n.3340C>A | gnomAD v4 |
13 | g.51944232C>A | CA388030315 | ATP7B | c.*894-1678G>T (n.*894-1678G>T) c.*1864G>T (n.*1864G>T) c.2499G>T (p.Met833Ile) c.3120G>T (p.Met1040Ile) c.2787G>T (p.Met929Ile) c.2868G>T (p.Met956Ile) c.2886G>T (p.Met962Ile) n.3259G>T n.3483G>T c.2055G>T (p.Met685Ile) c.1830G>T (p.Met610Ile) c.2925G>T (p.Met975Ile) n.340G>T c.1022-1678G>T c.*221G>T (n.*221G>T) n.3864G>T n.2465G>T c.2976G>T (p.Met992Ile) n.466G>T c.3024G>T (p.Met1008Ile) c.3084G>T (p.Met1028Ile) c.2634G>T (p.Met878Ile) c.936G>T (p.Met312Ile) c.877-1678G>T (n.877-1678G>T) c.2985G>T (p.Met995Ile) c.3061-1678G>T (n.3061-1678G>T) c.2706G>T (p.Met902Ile) c.2731-1678G>T (n.2731-1678G>T) c.1788G>T (p.Met596Ile) n.3339G>T | |
13 | g.51944232C>G | CA388030321 | ATP7B | c.*894-1678G>C (n.*894-1678G>C) c.*1864G>C (n.*1864G>C) c.2499G>C (p.Met833Ile) c.3120G>C (p.Met1040Ile) c.2787G>C (p.Met929Ile) c.2868G>C (p.Met956Ile) c.2886G>C (p.Met962Ile) n.3259G>C n.3483G>C c.2055G>C (p.Met685Ile) c.1830G>C (p.Met610Ile) c.2925G>C (p.Met975Ile) n.340G>C c.1022-1678G>C c.*221G>C (n.*221G>C) n.3864G>C n.2465G>C c.2976G>C (p.Met992Ile) n.466G>C c.3024G>C (p.Met1008Ile) c.3084G>C (p.Met1028Ile) c.2634G>C (p.Met878Ile) c.936G>C (p.Met312Ile) c.877-1678G>C (n.877-1678G>C) c.2985G>C (p.Met995Ile) c.3061-1678G>C (n.3061-1678G>C) c.2706G>C (p.Met902Ile) c.2731-1678G>C (n.2731-1678G>C) c.1788G>C (p.Met596Ile) n.3339G>C | |
13 | g.51944232C>T | CA388030310 | ATP7B | c.*894-1678G>A (n.*894-1678G>A) c.*1864G>A (n.*1864G>A) c.2499G>A (p.Met833Ile) c.3120G>A (p.Met1040Ile) c.2787G>A (p.Met929Ile) c.2868G>A (p.Met956Ile) c.2886G>A (p.Met962Ile) n.3259G>A n.3483G>A c.2055G>A (p.Met685Ile) c.1830G>A (p.Met610Ile) c.2925G>A (p.Met975Ile) n.340G>A c.1022-1678G>A c.*221G>A (n.*221G>A) n.3864G>A n.2465G>A c.2976G>A (p.Met992Ile) n.466G>A c.3024G>A (p.Met1008Ile) c.3084G>A (p.Met1028Ile) c.2634G>A (p.Met878Ile) c.936G>A (p.Met312Ile) c.877-1678G>A (n.877-1678G>A) c.2985G>A (p.Met995Ile) c.3061-1678G>A (n.3061-1678G>A) c.2706G>A (p.Met902Ile) c.2731-1678G>A (n.2731-1678G>A) c.1788G>A (p.Met596Ile) n.3339G>A | |
13 | g.51944233A>C | CA388030328 | ATP7B | c.*894-1679T>G (n.*894-1679T>G) c.*1863T>G (n.*1863T>G) c.2498T>G (p.Met833Arg) c.3119T>G (p.Met1040Arg) c.2786T>G (p.Met929Arg) c.2867T>G (p.Met956Arg) c.2885T>G (p.Met962Arg) n.3258T>G n.3482T>G c.2054T>G (p.Met685Arg) c.1829T>G (p.Met610Arg) c.2924T>G (p.Met975Arg) n.339T>G c.1022-1679T>G c.*220T>G (n.*220T>G) n.3863T>G n.2464T>G c.2975T>G (p.Met992Arg) n.465T>G c.3023T>G (p.Met1008Arg) c.3083T>G (p.Met1028Arg) c.2633T>G (p.Met878Arg) c.935T>G (p.Met312Arg) c.877-1679T>G (n.877-1679T>G) c.2984T>G (p.Met995Arg) c.3061-1679T>G (n.3061-1679T>G) c.2705T>G (p.Met902Arg) c.2731-1679T>G (n.2731-1679T>G) c.1787T>G (p.Met596Arg) n.3338T>G | |
13 | g.51944233A>G | CA388030324 | ATP7B | c.*894-1679T>C (n.*894-1679T>C) c.*1863T>C (n.*1863T>C) c.2498T>C (p.Met833Thr) c.3119T>C (p.Met1040Thr) c.2786T>C (p.Met929Thr) c.2867T>C (p.Met956Thr) c.2885T>C (p.Met962Thr) n.3258T>C n.3482T>C c.2054T>C (p.Met685Thr) c.1829T>C (p.Met610Thr) c.2924T>C (p.Met975Thr) n.339T>C c.1022-1679T>C c.*220T>C (n.*220T>C) n.3863T>C n.2464T>C c.2975T>C (p.Met992Thr) n.465T>C c.3023T>C (p.Met1008Thr) c.3083T>C (p.Met1028Thr) c.2633T>C (p.Met878Thr) c.935T>C (p.Met312Thr) c.877-1679T>C (n.877-1679T>C) c.2984T>C (p.Met995Thr) c.3061-1679T>C (n.3061-1679T>C) c.2705T>C (p.Met902Thr) c.2731-1679T>C (n.2731-1679T>C) c.1787T>C (p.Met596Thr) n.3338T>C | |
13 | g.51944233A>T | CA388030331 | ATP7B | c.*894-1679T>A (n.*894-1679T>A) c.*1863T>A (n.*1863T>A) c.2498T>A (p.Met833Lys) c.3119T>A (p.Met1040Lys) c.2786T>A (p.Met929Lys) c.2867T>A (p.Met956Lys) c.2885T>A (p.Met962Lys) n.3258T>A n.3482T>A c.2054T>A (p.Met685Lys) c.1829T>A (p.Met610Lys) c.2924T>A (p.Met975Lys) n.339T>A c.1022-1679T>A c.*220T>A (n.*220T>A) n.3863T>A n.2464T>A c.2975T>A (p.Met992Lys) n.465T>A c.3023T>A (p.Met1008Lys) c.3083T>A (p.Met1028Lys) c.2633T>A (p.Met878Lys) c.935T>A (p.Met312Lys) c.877-1679T>A (n.877-1679T>A) c.2984T>A (p.Met995Lys) c.3061-1679T>A (n.3061-1679T>A) c.2705T>A (p.Met902Lys) c.2731-1679T>A (n.2731-1679T>A) c.1787T>A (p.Met596Lys) n.3338T>A | |
13 | g.51944234T>A | CA388030333 | ATP7B | c.*894-1680A>T (n.*894-1680A>T) c.*1862A>T (n.*1862A>T) c.2497A>T (p.Met833Leu) c.3118A>T (p.Met1040Leu) c.2785A>T (p.Met929Leu) c.2866A>T (p.Met956Leu) c.2884A>T (p.Met962Leu) n.3257A>T n.3481A>T c.2053A>T (p.Met685Leu) c.1828A>T (p.Met610Leu) c.2923A>T (p.Met975Leu) n.338A>T c.1022-1680A>T c.*219A>T (n.*219A>T) n.3862A>T n.2463A>T c.2974A>T (p.Met992Leu) n.464A>T c.3022A>T (p.Met1008Leu) c.3082A>T (p.Met1028Leu) c.2632A>T (p.Met878Leu) c.934A>T (p.Met312Leu) c.877-1680A>T (n.877-1680A>T) c.2983A>T (p.Met995Leu) c.3061-1680A>T (n.3061-1680A>T) c.2704A>T (p.Met902Leu) c.2731-1680A>T (n.2731-1680A>T) c.1786A>T (p.Met596Leu) n.3337A>T | ClinVar |
13 | g.51944234T>C | CA388030336 | ATP7B | c.*894-1680A>G (n.*894-1680A>G) c.*1862A>G (n.*1862A>G) c.2497A>G (p.Met833Val) c.3118A>G (p.Met1040Val) c.2785A>G (p.Met929Val) c.2866A>G (p.Met956Val) c.2884A>G (p.Met962Val) n.3257A>G n.3481A>G c.2053A>G (p.Met685Val) c.1828A>G (p.Met610Val) c.2923A>G (p.Met975Val) n.338A>G c.1022-1680A>G c.*219A>G (n.*219A>G) n.3862A>G n.2463A>G c.2974A>G (p.Met992Val) n.464A>G c.3022A>G (p.Met1008Val) c.3082A>G (p.Met1028Val) c.2632A>G (p.Met878Val) c.934A>G (p.Met312Val) c.877-1680A>G (n.877-1680A>G) c.2983A>G (p.Met995Val) c.3061-1680A>G (n.3061-1680A>G) c.2704A>G (p.Met902Val) c.2731-1680A>G (n.2731-1680A>G) c.1786A>G (p.Met596Val) n.3337A>G | gnomAD v4 |
13 | g.51944234T>G | CA388030341 | ATP7B | c.*894-1680A>C (n.*894-1680A>C) c.*1862A>C (n.*1862A>C) c.2497A>C (p.Met833Leu) c.3118A>C (p.Met1040Leu) c.2785A>C (p.Met929Leu) c.2866A>C (p.Met956Leu) c.2884A>C (p.Met962Leu) n.3257A>C n.3481A>C c.2053A>C (p.Met685Leu) c.1828A>C (p.Met610Leu) c.2923A>C (p.Met975Leu) n.338A>C c.1022-1680A>C c.*219A>C (n.*219A>C) n.3862A>C n.2463A>C c.2974A>C (p.Met992Leu) n.464A>C c.3022A>C (p.Met1008Leu) c.3082A>C (p.Met1028Leu) c.2632A>C (p.Met878Leu) c.934A>C (p.Met312Leu) c.877-1680A>C (n.877-1680A>C) c.2983A>C (p.Met995Leu) c.3061-1680A>C (n.3061-1680A>C) c.2704A>C (p.Met902Leu) c.2731-1680A>C (n.2731-1680A>C) c.1786A>C (p.Met596Leu) n.3337A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.51944234T= | CA2091564062 | ATP7B | c.*894-1680A= (n.*894-1680A=) c.*1862A= (n.*1862A=) c.2497A= (p.Met833=) c.3118A= (p.Met1040=) c.2785A= (p.Met929=) c.2866A= (p.Met956=) c.2884A= (p.Met962=) n.3257A= n.3481A= c.2053A= (p.Met685=) c.1828A= (p.Met610=) c.2923A= (p.Met975=) n.338A= c.1022-1680A= c.*219A= (n.*219A=) n.3862A= n.2463A= c.2974A= (p.Met992=) n.464A= c.3022A= (p.Met1008=) c.3082A= (p.Met1028=) c.2632A= (p.Met878=) c.934A= (p.Met312=) c.877-1680A= (n.877-1680A=) c.2983A= (p.Met995=) c.3061-1680A= (n.3061-1680A=) c.2704A= (p.Met902=) c.2731-1680A= (n.2731-1680A=) c.1786A= (p.Met596=) n.3337A= | |
13 | g.51944234_51944243delinsTGACCCTGGG | CA2091564059 | ATP7B | c.*894-1689_*894-1680delinsCCCAGGGTCA (n.*894-1689_*894-1680delinsCCCAGGGTCA) c.*1853_*1862delinsCCCAGGGTCA (n.*1853_*1862delinsCCCAGGGTCA) c.2488_2497delinsCCCAGGGTCA (p.Pro830=) c.3109_3118delinsCCCAGGGTCA (p.Pro1037=) c.2776_2785delinsCCCAGGGTCA (p.Pro926=) c.2857_2866delinsCCCAGGGTCA (p.Pro953=) c.2875_2884delinsCCCAGGGTCA (p.Pro959=) n.3248_3257delinsCCCAGGGTCA n.3472_3481delinsCCCAGGGTCA c.2044_2053delinsCCCAGGGTCA (p.Pro682=) c.1819_1828delinsCCCAGGGTCA (p.Pro607=) c.2914_2923delinsCCCAGGGTCA (p.Pro972=) n.329_338delinsCCCAGGGTCA c.1022-1689_1022-1680delinsCCCAGGGTCA c.*210_*219delinsCCCAGGGTCA (n.*210_*219delinsCCCAGGGTCA) n.3853_3862delinsCCCAGGGTCA n.2454_2463delinsCCCAGGGTCA c.2965_2974delinsCCCAGGGTCA (p.Pro989=) n.455_464delinsCCCAGGGTCA c.3013_3022delinsCCCAGGGTCA (p.Pro1005=) c.3073_3082delinsCCCAGGGTCA (p.Pro1025=) c.2623_2632delinsCCCAGGGTCA (p.Pro875=) c.925_934delinsCCCAGGGTCA (p.Pro309=) c.877-1689_877-1680delinsCCCAGGGTCA (n.877-1689_877-1680delinsCCCAGGGTCA) c.2974_2983delinsCCCAGGGTCA (p.Pro992=) c.3061-1689_3061-1680delinsCCCAGGGTCA (n.3061-1689_3061-1680delinsCCCAGGGTCA) c.2695_2704delinsCCCAGGGTCA (p.Pro899=) c.2731-1689_2731-1680delinsCCCAGGGTCA (n.2731-1689_2731-1680delinsCCCAGGGTCA) c.1777_1786delinsCCCAGGGTCA (p.Pro593=) n.3328_3337delinsCCCAGGGTCA | |
13 | g.51944235G>A | CA483894737 | ATP7B | c.*894-1681C>T (n.*894-1681C>T) c.*1861C>T (n.*1861C>T) c.2496C>T (p.Val832=) c.3117C>T (p.Val1039=) c.2784C>T (p.Val928=) c.2865C>T (p.Val955=) c.2883C>T (p.Val961=) n.3256C>T n.3480C>T c.2052C>T (p.Val684=) c.1827C>T (p.Val609=) c.2922C>T (p.Val974=) n.337C>T c.1022-1681C>T c.*218C>T (n.*218C>T) n.3861C>T n.2462C>T c.2973C>T (p.Val991=) n.463C>T c.3021C>T (p.Val1007=) c.3081C>T (p.Val1027=) c.2631C>T (p.Val877=) c.933C>T (p.Val311=) c.877-1681C>T (n.877-1681C>T) c.2982C>T (p.Val994=) c.3061-1681C>T (n.3061-1681C>T) c.2703C>T (p.Val901=) c.2731-1681C>T (n.2731-1681C>T) c.1785C>T (p.Val595=) n.3336C>T | ClinVar dbSNP |
13 | g.51944235G>C | CA483894738 | ATP7B | c.*894-1681C>G (n.*894-1681C>G) c.*1861C>G (n.*1861C>G) c.2496C>G (p.Val832=) c.3117C>G (p.Val1039=) c.2784C>G (p.Val928=) c.2865C>G (p.Val955=) c.2883C>G (p.Val961=) n.3256C>G n.3480C>G c.2052C>G (p.Val684=) c.1827C>G (p.Val609=) c.2922C>G (p.Val974=) n.337C>G c.1022-1681C>G c.*218C>G (n.*218C>G) n.3861C>G n.2462C>G c.2973C>G (p.Val991=) n.463C>G c.3021C>G (p.Val1007=) c.3081C>G (p.Val1027=) c.2631C>G (p.Val877=) c.933C>G (p.Val311=) c.877-1681C>G (n.877-1681C>G) c.2982C>G (p.Val994=) c.3061-1681C>G (n.3061-1681C>G) c.2703C>G (p.Val901=) c.2731-1681C>G (n.2731-1681C>G) c.1785C>G (p.Val595=) n.3336C>G | |
13 | g.51944235G>T | CA483894739 | ATP7B | c.*894-1681C>A (n.*894-1681C>A) c.*1861C>A (n.*1861C>A) c.2496C>A (p.Val832=) c.3117C>A (p.Val1039=) c.2784C>A (p.Val928=) c.2865C>A (p.Val955=) c.2883C>A (p.Val961=) n.3256C>A n.3480C>A c.2052C>A (p.Val684=) c.1827C>A (p.Val609=) c.2922C>A (p.Val974=) n.337C>A c.1022-1681C>A c.*218C>A (n.*218C>A) n.3861C>A n.2462C>A c.2973C>A (p.Val991=) n.463C>A c.3021C>A (p.Val1007=) c.3081C>A (p.Val1027=) c.2631C>A (p.Val877=) c.933C>A (p.Val311=) c.877-1681C>A (n.877-1681C>A) c.2982C>A (p.Val994=) c.3061-1681C>A (n.3061-1681C>A) c.2703C>A (p.Val901=) c.2731-1681C>A (n.2731-1681C>A) c.1785C>A (p.Val595=) n.3336C>A | COSMIC |
13 | g.51944238_51944246del | CA610425797 | ATP7B | c.*894-1689_*894-1681del (n.*894-1689_*894-1681del) c.*1853_*1861del (n.*1853_*1861del) c.2488_2496del (p.Pro830_Val832del) c.3109_3117del (p.Pro1037_Val1039del) c.2776_2784del (p.Pro926_Val928del) c.2857_2865del (p.Pro953_Val955del) c.2875_2883del (p.Pro959_Val961del) n.3248_3256del n.3472_3480del c.2044_2052del (p.Pro682_Val684del) c.1819_1827del (p.Pro607_Val609del) c.2914_2922del (p.Pro972_Val974del) n.329_337del c.1022-1689_1022-1681del c.*210_*218del (n.*210_*218del) n.3853_3861del n.2454_2462del c.2965_2973del (p.Pro989_Val991del) n.455_463del c.3013_3021del (p.Pro1005_Val1007del) c.3073_3081del (p.Pro1025_Val1027del) c.2623_2631del (p.Pro875_Val877del) c.925_933del (p.Pro309_Val311del) c.877-1689_877-1681del (n.877-1689_877-1681del) c.2974_2982del (p.Pro992_Val994del) c.3061-1689_3061-1681del (n.3061-1689_3061-1681del) c.2695_2703del (p.Pro899_Val901del) c.2731-1689_2731-1681del (n.2731-1689_2731-1681del) c.1777_1785del (p.Pro593_Val595del) n.3328_3336del | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944236A>C | CA388030342 | ATP7B | c.*894-1682T>G (n.*894-1682T>G) c.*1860T>G (n.*1860T>G) c.2495T>G (p.Val832Gly) c.3116T>G (p.Val1039Gly) c.2783T>G (p.Val928Gly) c.2864T>G (p.Val955Gly) c.2882T>G (p.Val961Gly) n.3255T>G n.3479T>G c.2051T>G (p.Val684Gly) c.1826T>G (p.Val609Gly) c.2921T>G (p.Val974Gly) n.336T>G c.1022-1682T>G c.*217T>G (n.*217T>G) n.3860T>G n.2461T>G c.2972T>G (p.Val991Gly) n.462T>G c.3020T>G (p.Val1007Gly) c.3080T>G (p.Val1027Gly) c.2630T>G (p.Val877Gly) c.932T>G (p.Val311Gly) c.877-1682T>G (n.877-1682T>G) c.2981T>G (p.Val994Gly) c.3061-1682T>G (n.3061-1682T>G) c.2702T>G (p.Val901Gly) c.2731-1682T>G (n.2731-1682T>G) c.1784T>G (p.Val595Gly) n.3335T>G | |
13 | g.51944236A>G | CA388030343 | ATP7B | c.*894-1682T>C (n.*894-1682T>C) c.*1860T>C (n.*1860T>C) c.2495T>C (p.Val832Ala) c.3116T>C (p.Val1039Ala) c.2783T>C (p.Val928Ala) c.2864T>C (p.Val955Ala) c.2882T>C (p.Val961Ala) n.3255T>C n.3479T>C c.2051T>C (p.Val684Ala) c.1826T>C (p.Val609Ala) c.2921T>C (p.Val974Ala) n.336T>C c.1022-1682T>C c.*217T>C (n.*217T>C) n.3860T>C n.2461T>C c.2972T>C (p.Val991Ala) n.462T>C c.3020T>C (p.Val1007Ala) c.3080T>C (p.Val1027Ala) c.2630T>C (p.Val877Ala) c.932T>C (p.Val311Ala) c.877-1682T>C (n.877-1682T>C) c.2981T>C (p.Val994Ala) c.3061-1682T>C (n.3061-1682T>C) c.2702T>C (p.Val901Ala) c.2731-1682T>C (n.2731-1682T>C) c.1784T>C (p.Val595Ala) n.3335T>C | |
13 | g.51944236A>T | CA388030344 | ATP7B | c.*894-1682T>A (n.*894-1682T>A) c.*1860T>A (n.*1860T>A) c.2495T>A (p.Val832Asp) c.3116T>A (p.Val1039Asp) c.2783T>A (p.Val928Asp) c.2864T>A (p.Val955Asp) c.2882T>A (p.Val961Asp) n.3255T>A n.3479T>A c.2051T>A (p.Val684Asp) c.1826T>A (p.Val609Asp) c.2921T>A (p.Val974Asp) n.336T>A c.1022-1682T>A c.*217T>A (n.*217T>A) n.3860T>A n.2461T>A c.2972T>A (p.Val991Asp) n.462T>A c.3020T>A (p.Val1007Asp) c.3080T>A (p.Val1027Asp) c.2630T>A (p.Val877Asp) c.932T>A (p.Val311Asp) c.877-1682T>A (n.877-1682T>A) c.2981T>A (p.Val994Asp) c.3061-1682T>A (n.3061-1682T>A) c.2702T>A (p.Val901Asp) c.2731-1682T>A (n.2731-1682T>A) c.1784T>A (p.Val595Asp) n.3335T>A | |
13 | g.51944237C>A | CA388030345 | ATP7B | c.*894-1683G>T (n.*894-1683G>T) c.*1859G>T (n.*1859G>T) c.2494G>T (p.Val832Phe) c.3115G>T (p.Val1039Phe) c.2782G>T (p.Val928Phe) c.2863G>T (p.Val955Phe) c.2881G>T (p.Val961Phe) n.3254G>T n.3478G>T c.2050G>T (p.Val684Phe) c.1825G>T (p.Val609Phe) c.2920G>T (p.Val974Phe) n.335G>T c.1022-1683G>T c.*216G>T (n.*216G>T) n.3859G>T n.2460G>T c.2971G>T (p.Val991Phe) n.461G>T c.3019G>T (p.Val1007Phe) c.3079G>T (p.Val1027Phe) c.2629G>T (p.Val877Phe) c.931G>T (p.Val311Phe) c.877-1683G>T (n.877-1683G>T) c.2980G>T (p.Val994Phe) c.3061-1683G>T (n.3061-1683G>T) c.2701G>T (p.Val901Phe) c.2731-1683G>T (n.2731-1683G>T) c.1783G>T (p.Val595Phe) n.3334G>T | |
13 | g.51944237C>G | CA388030348 | ATP7B | c.*894-1683G>C (n.*894-1683G>C) c.*1859G>C (n.*1859G>C) c.2494G>C (p.Val832Leu) c.3115G>C (p.Val1039Leu) c.2782G>C (p.Val928Leu) c.2863G>C (p.Val955Leu) c.2881G>C (p.Val961Leu) n.3254G>C n.3478G>C c.2050G>C (p.Val684Leu) c.1825G>C (p.Val609Leu) c.2920G>C (p.Val974Leu) n.335G>C c.1022-1683G>C c.*216G>C (n.*216G>C) n.3859G>C n.2460G>C c.2971G>C (p.Val991Leu) n.461G>C c.3019G>C (p.Val1007Leu) c.3079G>C (p.Val1027Leu) c.2629G>C (p.Val877Leu) c.931G>C (p.Val311Leu) c.877-1683G>C (n.877-1683G>C) c.2980G>C (p.Val994Leu) c.3061-1683G>C (n.3061-1683G>C) c.2701G>C (p.Val901Leu) c.2731-1683G>C (n.2731-1683G>C) c.1783G>C (p.Val595Leu) n.3334G>C | |
13 | g.51944237C>T | CA388030354 | ATP7B | c.*894-1683G>A (n.*894-1683G>A) c.*1859G>A (n.*1859G>A) c.2494G>A (p.Val832Ile) c.3115G>A (p.Val1039Ile) c.2782G>A (p.Val928Ile) c.2863G>A (p.Val955Ile) c.2881G>A (p.Val961Ile) n.3254G>A n.3478G>A c.2050G>A (p.Val684Ile) c.1825G>A (p.Val609Ile) c.2920G>A (p.Val974Ile) n.335G>A c.1022-1683G>A c.*216G>A (n.*216G>A) n.3859G>A n.2460G>A c.2971G>A (p.Val991Ile) n.461G>A c.3019G>A (p.Val1007Ile) c.3079G>A (p.Val1027Ile) c.2629G>A (p.Val877Ile) c.931G>A (p.Val311Ile) c.877-1683G>A (n.877-1683G>A) c.2980G>A (p.Val994Ile) c.3061-1683G>A (n.3061-1683G>A) c.2701G>A (p.Val901Ile) c.2731-1683G>A (n.2731-1683G>A) c.1783G>A (p.Val595Ile) n.3334G>A | |
13 | g.51944239del | CA2695218747 | ATP7B | c.*894-1683del (n.*894-1683del) c.*1859del (n.*1859del) c.2494del (p.Val832SerfsTer?) c.3115del (p.Val1039SerfsTer?) c.2782del (p.Val928SerfsTer?) c.2863del (p.Val955SerfsTer?) c.2881del (p.Val961SerfsTer?) n.3254del n.3478del c.2050del (p.Val684SerfsTer?) c.1825del (p.Val609SerfsTer?) c.2920del (p.Val974SerfsTer?) n.335del c.1022-1683del c.*216del (n.*216del) n.3859del n.2460del c.2971del (p.Val991SerfsTer?) n.461del c.3019del (p.Val1007SerfsTer?) c.3079del (p.Val1027SerfsTer?) c.2629del (p.Val877SerfsTer?) c.931del (p.Val311SerfsTer?) c.877-1683del (n.877-1683del) c.2980del (p.Val994SerfsTer?) c.3061-1683del (n.3061-1683del) c.2701del (p.Val901SerfsTer?) c.2731-1683del (n.2731-1683del) c.1783del (p.Val595SerfsTer?) n.3334del | |
13 | g.51944237_51944253del | CA2575420443 | ATP7B | c.*894-1699_*894-1683del (n.*894-1699_*894-1683del) c.*1843_*1859del (n.*1843_*1859del) c.2478_2494del (p.Gly828AlafsTer28) c.3099_3115del (p.Gly1035AlafsTer28) c.2766_2782del (p.Gly924AlafsTer28) c.2847_2863del (p.Gly951AlafsTer28) c.2865_2881del (p.Gly957AlafsTer28) n.3238_3254del n.3462_3478del c.2034_2050del (p.Gly680AlafsTer28) c.1809_1825del (p.Gly605AlafsTer28) c.2904_2920del (p.Gly970AlafsTer28) n.319_335del c.1022-1699_1022-1683del c.*200_*216del (n.*200_*216del) n.3843_3859del n.2444_2460del c.2955_2971del (p.Gly987AlafsTer28) n.445_461del c.3003_3019del (p.Gly1003AlafsTer28) c.3063_3079del (p.Gly1023AlafsTer28) c.2613_2629del (p.Gly873AlafsTer28) c.915_931del (p.Gly307AlafsTer28) c.877-1699_877-1683del (n.877-1699_877-1683del) c.2964_2980del (p.Gly990AlafsTer28) c.3061-1699_3061-1683del (n.3061-1699_3061-1683del) c.2685_2701del (p.Gly897AlafsTer28) c.2731-1699_2731-1683del (n.2731-1699_2731-1683del) c.1767_1783del (p.Gly591AlafsTer28) n.3318_3334del | |
13 | g.51944238C>A | CA388030361 | ATP7B | c.*894-1684G>T (n.*894-1684G>T) c.*1858G>T (n.*1858G>T) c.2493G>T (p.Arg831Ser) c.3114G>T (p.Arg1038Ser) c.2781G>T (p.Arg927Ser) c.2862G>T (p.Arg954Ser) c.2880G>T (p.Arg960Ser) n.3253G>T n.3477G>T c.2049G>T (p.Arg683Ser) c.1824G>T (p.Arg608Ser) c.2919G>T (p.Arg973Ser) n.334G>T c.1022-1684G>T c.*215G>T (n.*215G>T) n.3858G>T n.2459G>T c.2970G>T (p.Arg990Ser) n.460G>T c.3018G>T (p.Arg1006Ser) c.3078G>T (p.Arg1026Ser) c.2628G>T (p.Arg876Ser) c.930G>T (p.Arg310Ser) c.877-1684G>T (n.877-1684G>T) c.2979G>T (p.Arg993Ser) c.3061-1684G>T (n.3061-1684G>T) c.2700G>T (p.Arg900Ser) c.2731-1684G>T (n.2731-1684G>T) c.1782G>T (p.Arg594Ser) n.3333G>T | |
13 | g.51944238C= | CA2091564071 | ATP7B | c.*894-1684G= (n.*894-1684G=) c.*1858G= (n.*1858G=) c.2493G= (p.Arg831=) c.3114G= (p.Arg1038=) c.2781G= (p.Arg927=) c.2862G= (p.Arg954=) c.2880G= (p.Arg960=) n.3253G= n.3477G= c.2049G= (p.Arg683=) c.1824G= (p.Arg608=) c.2919G= (p.Arg973=) n.334G= c.1022-1684G= c.*215G= (n.*215G=) n.3858G= n.2459G= c.2970G= (p.Arg990=) n.460G= c.3018G= (p.Arg1006=) c.3078G= (p.Arg1026=) c.2628G= (p.Arg876=) c.930G= (p.Arg310=) c.877-1684G= (n.877-1684G=) c.2979G= (p.Arg993=) c.3061-1684G= (n.3061-1684G=) c.2700G= (p.Arg900=) c.2731-1684G= (n.2731-1684G=) c.1782G= (p.Arg594=) n.3333G= | |
13 | g.51944238C>G | CA388030363 | ATP7B | c.*894-1684G>C (n.*894-1684G>C) c.*1858G>C (n.*1858G>C) c.2493G>C (p.Arg831Ser) c.3114G>C (p.Arg1038Ser) c.2781G>C (p.Arg927Ser) c.2862G>C (p.Arg954Ser) c.2880G>C (p.Arg960Ser) n.3253G>C n.3477G>C c.2049G>C (p.Arg683Ser) c.1824G>C (p.Arg608Ser) c.2919G>C (p.Arg973Ser) n.334G>C c.1022-1684G>C c.*215G>C (n.*215G>C) n.3858G>C n.2459G>C c.2970G>C (p.Arg990Ser) n.460G>C c.3018G>C (p.Arg1006Ser) c.3078G>C (p.Arg1026Ser) c.2628G>C (p.Arg876Ser) c.930G>C (p.Arg310Ser) c.877-1684G>C (n.877-1684G>C) c.2979G>C (p.Arg993Ser) c.3061-1684G>C (n.3061-1684G>C) c.2700G>C (p.Arg900Ser) c.2731-1684G>C (n.2731-1684G>C) c.1782G>C (p.Arg594Ser) n.3333G>C | |
13 | g.51944238C>T | CA6988804 | ATP7B | c.*894-1684G>A (n.*894-1684G>A) c.*1858G>A (n.*1858G>A) c.2493G>A (p.Arg831=) c.3114G>A (p.Arg1038=) c.2781G>A (p.Arg927=) c.2862G>A (p.Arg954=) c.2880G>A (p.Arg960=) n.3253G>A n.3477G>A c.2049G>A (p.Arg683=) c.1824G>A (p.Arg608=) c.2919G>A (p.Arg973=) n.334G>A c.1022-1684G>A c.*215G>A (n.*215G>A) n.3858G>A n.2459G>A c.2970G>A (p.Arg990=) n.460G>A c.3018G>A (p.Arg1006=) c.3078G>A (p.Arg1026=) c.2628G>A (p.Arg876=) c.930G>A (p.Arg310=) c.877-1684G>A (n.877-1684G>A) c.2979G>A (p.Arg993=) c.3061-1684G>A (n.3061-1684G>A) c.2700G>A (p.Arg900=) c.2731-1684G>A (n.2731-1684G>A) c.1782G>A (p.Arg594=) n.3333G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944239C>A | CA388030373 | ATP7B | c.*894-1685G>T (n.*894-1685G>T) c.*1857G>T (n.*1857G>T) c.2492G>T (p.Arg831Met) c.3113G>T (p.Arg1038Met) c.2780G>T (p.Arg927Met) c.2861G>T (p.Arg954Met) c.2879G>T (p.Arg960Met) n.3252G>T n.3476G>T c.2048G>T (p.Arg683Met) c.1823G>T (p.Arg608Met) c.2918G>T (p.Arg973Met) n.333G>T c.1022-1685G>T c.*214G>T (n.*214G>T) n.3857G>T n.2458G>T c.2969G>T (p.Arg990Met) n.459G>T c.3017G>T (p.Arg1006Met) c.3077G>T (p.Arg1026Met) c.2627G>T (p.Arg876Met) c.929G>T (p.Arg310Met) c.877-1685G>T (n.877-1685G>T) c.2978G>T (p.Arg993Met) c.3061-1685G>T (n.3061-1685G>T) c.2699G>T (p.Arg900Met) c.2731-1685G>T (n.2731-1685G>T) c.1781G>T (p.Arg594Met) n.3332G>T | |
13 | g.51944239C= | CA2091564075 | ATP7B | c.*894-1685G= (n.*894-1685G=) c.*1857G= (n.*1857G=) c.2492G= (p.Arg831=) c.3113G= (p.Arg1038=) c.2780G= (p.Arg927=) c.2861G= (p.Arg954=) c.2879G= (p.Arg960=) n.3252G= n.3476G= c.2048G= (p.Arg683=) c.1823G= (p.Arg608=) c.2918G= (p.Arg973=) n.333G= c.1022-1685G= c.*214G= (n.*214G=) n.3857G= n.2458G= c.2969G= (p.Arg990=) n.459G= c.3017G= (p.Arg1006=) c.3077G= (p.Arg1026=) c.2627G= (p.Arg876=) c.929G= (p.Arg310=) c.877-1685G= (n.877-1685G=) c.2978G= (p.Arg993=) c.3061-1685G= (n.3061-1685G=) c.2699G= (p.Arg900=) c.2731-1685G= (n.2731-1685G=) c.1781G= (p.Arg594=) n.3332G= | |
13 | g.51944239C>G | CA250080239 | ATP7B | c.*894-1685G>C (n.*894-1685G>C) c.*1857G>C (n.*1857G>C) c.2492G>C (p.Arg831Thr) c.3113G>C (p.Arg1038Thr) c.2780G>C (p.Arg927Thr) c.2861G>C (p.Arg954Thr) c.2879G>C (p.Arg960Thr) n.3252G>C n.3476G>C c.2048G>C (p.Arg683Thr) c.1823G>C (p.Arg608Thr) c.2918G>C (p.Arg973Thr) n.333G>C c.1022-1685G>C c.*214G>C (n.*214G>C) n.3857G>C n.2458G>C c.2969G>C (p.Arg990Thr) n.459G>C c.3017G>C (p.Arg1006Thr) c.3077G>C (p.Arg1026Thr) c.2627G>C (p.Arg876Thr) c.929G>C (p.Arg310Thr) c.877-1685G>C (n.877-1685G>C) c.2978G>C (p.Arg993Thr) c.3061-1685G>C (n.3061-1685G>C) c.2699G>C (p.Arg900Thr) c.2731-1685G>C (n.2731-1685G>C) c.1781G>C (p.Arg594Thr) n.3332G>C | dbSNP gnomAD v4 |
13 | g.51944239C>T | CA6988805 | ATP7B | c.*894-1685G>A (n.*894-1685G>A) c.*1857G>A (n.*1857G>A) c.2492G>A (p.Arg831Lys) c.3113G>A (p.Arg1038Lys) c.2780G>A (p.Arg927Lys) c.2861G>A (p.Arg954Lys) c.2879G>A (p.Arg960Lys) n.3252G>A n.3476G>A c.2048G>A (p.Arg683Lys) c.1823G>A (p.Arg608Lys) c.2918G>A (p.Arg973Lys) n.333G>A c.1022-1685G>A c.*214G>A (n.*214G>A) n.3857G>A n.2458G>A c.2969G>A (p.Arg990Lys) n.459G>A c.3017G>A (p.Arg1006Lys) c.3077G>A (p.Arg1026Lys) c.2627G>A (p.Arg876Lys) c.929G>A (p.Arg310Lys) c.877-1685G>A (n.877-1685G>A) c.2978G>A (p.Arg993Lys) c.3061-1685G>A (n.3061-1685G>A) c.2699G>A (p.Arg900Lys) c.2731-1685G>A (n.2731-1685G>A) c.1781G>A (p.Arg594Lys) n.3332G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944240T>A | CA388030378 | ATP7B | c.*894-1686A>T (n.*894-1686A>T) c.*1856A>T (n.*1856A>T) c.2491A>T (p.Arg831Trp) c.3112A>T (p.Arg1038Trp) c.2779A>T (p.Arg927Trp) c.2860A>T (p.Arg954Trp) c.2878A>T (p.Arg960Trp) n.3251A>T n.3475A>T c.2047A>T (p.Arg683Trp) c.1822A>T (p.Arg608Trp) c.2917A>T (p.Arg973Trp) n.332A>T c.1022-1686A>T c.*213A>T (n.*213A>T) n.3856A>T n.2457A>T c.2968A>T (p.Arg990Trp) n.458A>T c.3016A>T (p.Arg1006Trp) c.3076A>T (p.Arg1026Trp) c.2626A>T (p.Arg876Trp) c.928A>T (p.Arg310Trp) c.877-1686A>T (n.877-1686A>T) c.2977A>T (p.Arg993Trp) c.3061-1686A>T (n.3061-1686A>T) c.2698A>T (p.Arg900Trp) c.2731-1686A>T (n.2731-1686A>T) c.1780A>T (p.Arg594Trp) n.3331A>T | |
13 | g.51944240T>C | CA388030387 | ATP7B | c.*894-1686A>G (n.*894-1686A>G) c.*1856A>G (n.*1856A>G) c.2491A>G (p.Arg831Gly) c.3112A>G (p.Arg1038Gly) c.2779A>G (p.Arg927Gly) c.2860A>G (p.Arg954Gly) c.2878A>G (p.Arg960Gly) n.3251A>G n.3475A>G c.2047A>G (p.Arg683Gly) c.1822A>G (p.Arg608Gly) c.2917A>G (p.Arg973Gly) n.332A>G c.1022-1686A>G c.*213A>G (n.*213A>G) n.3856A>G n.2457A>G c.2968A>G (p.Arg990Gly) n.458A>G c.3016A>G (p.Arg1006Gly) c.3076A>G (p.Arg1026Gly) c.2626A>G (p.Arg876Gly) c.928A>G (p.Arg310Gly) c.877-1686A>G (n.877-1686A>G) c.2977A>G (p.Arg993Gly) c.3061-1686A>G (n.3061-1686A>G) c.2698A>G (p.Arg900Gly) c.2731-1686A>G (n.2731-1686A>G) c.1780A>G (p.Arg594Gly) n.3331A>G | |
13 | g.51944240T>G | CA483894740 | ATP7B | c.*894-1686A>C (n.*894-1686A>C) c.*1856A>C (n.*1856A>C) c.2491A>C (p.Arg831=) c.3112A>C (p.Arg1038=) c.2779A>C (p.Arg927=) c.2860A>C (p.Arg954=) c.2878A>C (p.Arg960=) n.3251A>C n.3475A>C c.2047A>C (p.Arg683=) c.1822A>C (p.Arg608=) c.2917A>C (p.Arg973=) n.332A>C c.1022-1686A>C c.*213A>C (n.*213A>C) n.3856A>C n.2457A>C c.2968A>C (p.Arg990=) n.458A>C c.3016A>C (p.Arg1006=) c.3076A>C (p.Arg1026=) c.2626A>C (p.Arg876=) c.928A>C (p.Arg310=) c.877-1686A>C (n.877-1686A>C) c.2977A>C (p.Arg993=) c.3061-1686A>C (n.3061-1686A>C) c.2698A>C (p.Arg900=) c.2731-1686A>C (n.2731-1686A>C) c.1780A>C (p.Arg594=) n.3331A>C | ClinVar dbSNP |
13 | g.51944240T= | CA2091564080 | ATP7B | c.*894-1686A= (n.*894-1686A=) c.*1856A= (n.*1856A=) c.2491A= (p.Arg831=) c.3112A= (p.Arg1038=) c.2779A= (p.Arg927=) c.2860A= (p.Arg954=) c.2878A= (p.Arg960=) n.3251A= n.3475A= c.2047A= (p.Arg683=) c.1822A= (p.Arg608=) c.2917A= (p.Arg973=) n.332A= c.1022-1686A= c.*213A= (n.*213A=) n.3856A= n.2457A= c.2968A= (p.Arg990=) n.458A= c.3016A= (p.Arg1006=) c.3076A= (p.Arg1026=) c.2626A= (p.Arg876=) c.928A= (p.Arg310=) c.877-1686A= (n.877-1686A=) c.2977A= (p.Arg993=) c.3061-1686A= (n.3061-1686A=) c.2698A= (p.Arg900=) c.2731-1686A= (n.2731-1686A=) c.1780A= (p.Arg594=) n.3331A= | |
13 | g.51944241G>A | CA483894741 | ATP7B | c.*894-1687C>T (n.*894-1687C>T) c.*1855C>T (n.*1855C>T) c.2490C>T (p.Pro830=) c.3111C>T (p.Pro1037=) c.2778C>T (p.Pro926=) c.2859C>T (p.Pro953=) c.2877C>T (p.Pro959=) n.3250C>T n.3474C>T c.2046C>T (p.Pro682=) c.1821C>T (p.Pro607=) c.2916C>T (p.Pro972=) n.331C>T c.1022-1687C>T c.*212C>T (n.*212C>T) n.3855C>T n.2456C>T c.2967C>T (p.Pro989=) n.457C>T c.3015C>T (p.Pro1005=) c.3075C>T (p.Pro1025=) c.2625C>T (p.Pro875=) c.927C>T (p.Pro309=) c.877-1687C>T (n.877-1687C>T) c.2976C>T (p.Pro992=) c.3061-1687C>T (n.3061-1687C>T) c.2697C>T (p.Pro899=) c.2731-1687C>T (n.2731-1687C>T) c.1779C>T (p.Pro593=) n.3330C>T | |
13 | g.51944241G>C | CA483894742 | ATP7B | c.*894-1687C>G (n.*894-1687C>G) c.*1855C>G (n.*1855C>G) c.2490C>G (p.Pro830=) c.3111C>G (p.Pro1037=) c.2778C>G (p.Pro926=) c.2859C>G (p.Pro953=) c.2877C>G (p.Pro959=) n.3250C>G n.3474C>G c.2046C>G (p.Pro682=) c.1821C>G (p.Pro607=) c.2916C>G (p.Pro972=) n.331C>G c.1022-1687C>G c.*212C>G (n.*212C>G) n.3855C>G n.2456C>G c.2967C>G (p.Pro989=) n.457C>G c.3015C>G (p.Pro1005=) c.3075C>G (p.Pro1025=) c.2625C>G (p.Pro875=) c.927C>G (p.Pro309=) c.877-1687C>G (n.877-1687C>G) c.2976C>G (p.Pro992=) c.3061-1687C>G (n.3061-1687C>G) c.2697C>G (p.Pro899=) c.2731-1687C>G (n.2731-1687C>G) c.1779C>G (p.Pro593=) n.3330C>G | |
13 | g.51944241G>T | CA483894743 | ATP7B | c.*894-1687C>A (n.*894-1687C>A) c.*1855C>A (n.*1855C>A) c.2490C>A (p.Pro830=) c.3111C>A (p.Pro1037=) c.2778C>A (p.Pro926=) c.2859C>A (p.Pro953=) c.2877C>A (p.Pro959=) n.3250C>A n.3474C>A c.2046C>A (p.Pro682=) c.1821C>A (p.Pro607=) c.2916C>A (p.Pro972=) n.331C>A c.1022-1687C>A c.*212C>A (n.*212C>A) n.3855C>A n.2456C>A c.2967C>A (p.Pro989=) n.457C>A c.3015C>A (p.Pro1005=) c.3075C>A (p.Pro1025=) c.2625C>A (p.Pro875=) c.927C>A (p.Pro309=) c.877-1687C>A (n.877-1687C>A) c.2976C>A (p.Pro992=) c.3061-1687C>A (n.3061-1687C>A) c.2697C>A (p.Pro899=) c.2731-1687C>A (n.2731-1687C>A) c.1779C>A (p.Pro593=) n.3330C>A | |
13 | g.51944244del | CA2580087657 | ATP7B | c.*894-1687del (n.*894-1687del) c.*1855del (n.*1855del) c.2490del (p.Arg831GlyfsTer?) c.3111del (p.Arg1038GlyfsTer?) c.2778del (p.Arg927GlyfsTer?) c.2859del (p.Arg954GlyfsTer?) c.2877del (p.Arg960GlyfsTer?) n.3250del n.3474del c.2046del (p.Arg683GlyfsTer?) c.1821del (p.Arg608GlyfsTer?) c.2916del (p.Arg973GlyfsTer?) n.331del c.1022-1687del c.*212del (n.*212del) n.3855del n.2456del c.2967del (p.Arg990GlyfsTer?) n.457del c.3015del (p.Arg1006GlyfsTer?) c.3075del (p.Arg1026GlyfsTer?) c.2625del (p.Arg876GlyfsTer?) c.927del (p.Arg310GlyfsTer?) c.877-1687del (n.877-1687del) c.2976del (p.Arg993GlyfsTer?) c.3061-1687del (n.3061-1687del) c.2697del (p.Arg900GlyfsTer?) c.2731-1687del (n.2731-1687del) c.1779del (p.Arg594GlyfsTer?) n.3330del | ClinVar |
13 | g.51944242G>A | CA388030388 | ATP7B | c.*894-1688C>T (n.*894-1688C>T) c.*1854C>T (n.*1854C>T) c.2489C>T (p.Pro830Leu) c.3110C>T (p.Pro1037Leu) c.2777C>T (p.Pro926Leu) c.2858C>T (p.Pro953Leu) c.2876C>T (p.Pro959Leu) n.3249C>T n.3473C>T c.2045C>T (p.Pro682Leu) c.1820C>T (p.Pro607Leu) c.2915C>T (p.Pro972Leu) n.330C>T c.1022-1688C>T c.*211C>T (n.*211C>T) n.3854C>T n.2455C>T c.2966C>T (p.Pro989Leu) n.456C>T c.3014C>T (p.Pro1005Leu) c.3074C>T (p.Pro1025Leu) c.2624C>T (p.Pro875Leu) c.926C>T (p.Pro309Leu) c.877-1688C>T (n.877-1688C>T) c.2975C>T (p.Pro992Leu) c.3061-1688C>T (n.3061-1688C>T) c.2696C>T (p.Pro899Leu) c.2731-1688C>T (n.2731-1688C>T) c.1778C>T (p.Pro593Leu) n.3329C>T | ClinVar |
13 | g.51944242G>C | CA388030389 | ATP7B | c.*894-1688C>G (n.*894-1688C>G) c.*1854C>G (n.*1854C>G) c.2489C>G (p.Pro830Arg) c.3110C>G (p.Pro1037Arg) c.2777C>G (p.Pro926Arg) c.2858C>G (p.Pro953Arg) c.2876C>G (p.Pro959Arg) n.3249C>G n.3473C>G c.2045C>G (p.Pro682Arg) c.1820C>G (p.Pro607Arg) c.2915C>G (p.Pro972Arg) n.330C>G c.1022-1688C>G c.*211C>G (n.*211C>G) n.3854C>G n.2455C>G c.2966C>G (p.Pro989Arg) n.456C>G c.3014C>G (p.Pro1005Arg) c.3074C>G (p.Pro1025Arg) c.2624C>G (p.Pro875Arg) c.926C>G (p.Pro309Arg) c.877-1688C>G (n.877-1688C>G) c.2975C>G (p.Pro992Arg) c.3061-1688C>G (n.3061-1688C>G) c.2696C>G (p.Pro899Arg) c.2731-1688C>G (n.2731-1688C>G) c.1778C>G (p.Pro593Arg) n.3329C>G | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944242G= | CA2091564084 | ATP7B | c.*894-1688C= (n.*894-1688C=) c.*1854C= (n.*1854C=) c.2489C= (p.Pro830=) c.3110C= (p.Pro1037=) c.2777C= (p.Pro926=) c.2858C= (p.Pro953=) c.2876C= (p.Pro959=) n.3249C= n.3473C= c.2045C= (p.Pro682=) c.1820C= (p.Pro607=) c.2915C= (p.Pro972=) n.330C= c.1022-1688C= c.*211C= (n.*211C=) n.3854C= n.2455C= c.2966C= (p.Pro989=) n.456C= c.3014C= (p.Pro1005=) c.3074C= (p.Pro1025=) c.2624C= (p.Pro875=) c.926C= (p.Pro309=) c.877-1688C= (n.877-1688C=) c.2975C= (p.Pro992=) c.3061-1688C= (n.3061-1688C=) c.2696C= (p.Pro899=) c.2731-1688C= (n.2731-1688C=) c.1778C= (p.Pro593=) n.3329C= | |
13 | g.51944242G>T | CA388030390 | ATP7B | c.*894-1688C>A (n.*894-1688C>A) c.*1854C>A (n.*1854C>A) c.2489C>A (p.Pro830His) c.3110C>A (p.Pro1037His) c.2777C>A (p.Pro926His) c.2858C>A (p.Pro953His) c.2876C>A (p.Pro959His) n.3249C>A n.3473C>A c.2045C>A (p.Pro682His) c.1820C>A (p.Pro607His) c.2915C>A (p.Pro972His) n.330C>A c.1022-1688C>A c.*211C>A (n.*211C>A) n.3854C>A n.2455C>A c.2966C>A (p.Pro989His) n.456C>A c.3014C>A (p.Pro1005His) c.3074C>A (p.Pro1025His) c.2624C>A (p.Pro875His) c.926C>A (p.Pro309His) c.877-1688C>A (n.877-1688C>A) c.2975C>A (p.Pro992His) c.3061-1688C>A (n.3061-1688C>A) c.2696C>A (p.Pro899His) c.2731-1688C>A (n.2731-1688C>A) c.1778C>A (p.Pro593His) n.3329C>A | |
13 | g.51944243G>A | CA6988806 | ATP7B | c.*894-1689C>T (n.*894-1689C>T) c.*1853C>T (n.*1853C>T) c.2488C>T (p.Pro830Ser) c.3109C>T (p.Pro1037Ser) c.2776C>T (p.Pro926Ser) c.2857C>T (p.Pro953Ser) c.2875C>T (p.Pro959Ser) n.3248C>T n.3472C>T c.2044C>T (p.Pro682Ser) c.1819C>T (p.Pro607Ser) c.2914C>T (p.Pro972Ser) n.329C>T c.1022-1689C>T c.*210C>T (n.*210C>T) n.3853C>T n.2454C>T c.2965C>T (p.Pro989Ser) n.455C>T c.3013C>T (p.Pro1005Ser) c.3073C>T (p.Pro1025Ser) c.2623C>T (p.Pro875Ser) c.925C>T (p.Pro309Ser) c.877-1689C>T (n.877-1689C>T) c.2974C>T (p.Pro992Ser) c.3061-1689C>T (n.3061-1689C>T) c.2695C>T (p.Pro899Ser) c.2731-1689C>T (n.2731-1689C>T) c.1777C>T (p.Pro593Ser) n.3328C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944243G>C | CA250080255 | ATP7B | c.*894-1689C>G (n.*894-1689C>G) c.*1853C>G (n.*1853C>G) c.2488C>G (p.Pro830Ala) c.3109C>G (p.Pro1037Ala) c.2776C>G (p.Pro926Ala) c.2857C>G (p.Pro953Ala) c.2875C>G (p.Pro959Ala) n.3248C>G n.3472C>G c.2044C>G (p.Pro682Ala) c.1819C>G (p.Pro607Ala) c.2914C>G (p.Pro972Ala) n.329C>G c.1022-1689C>G c.*210C>G (n.*210C>G) n.3853C>G n.2454C>G c.2965C>G (p.Pro989Ala) n.455C>G c.3013C>G (p.Pro1005Ala) c.3073C>G (p.Pro1025Ala) c.2623C>G (p.Pro875Ala) c.925C>G (p.Pro309Ala) c.877-1689C>G (n.877-1689C>G) c.2974C>G (p.Pro992Ala) c.3061-1689C>G (n.3061-1689C>G) c.2695C>G (p.Pro899Ala) c.2731-1689C>G (n.2731-1689C>G) c.1777C>G (p.Pro593Ala) n.3328C>G | dbSNP |
13 | g.51944243G= | CA2091564088 | ATP7B | c.*894-1689C= (n.*894-1689C=) c.*1853C= (n.*1853C=) c.2488C= (p.Pro830=) c.3109C= (p.Pro1037=) c.2776C= (p.Pro926=) c.2857C= (p.Pro953=) c.2875C= (p.Pro959=) n.3248C= n.3472C= c.2044C= (p.Pro682=) c.1819C= (p.Pro607=) c.2914C= (p.Pro972=) n.329C= c.1022-1689C= c.*210C= (n.*210C=) n.3853C= n.2454C= c.2965C= (p.Pro989=) n.455C= c.3013C= (p.Pro1005=) c.3073C= (p.Pro1025=) c.2623C= (p.Pro875=) c.925C= (p.Pro309=) c.877-1689C= (n.877-1689C=) c.2974C= (p.Pro992=) c.3061-1689C= (n.3061-1689C=) c.2695C= (p.Pro899=) c.2731-1689C= (n.2731-1689C=) c.1777C= (p.Pro593=) n.3328C= | |
13 | g.51944243G>T | CA388030393 | ATP7B | c.*894-1689C>A (n.*894-1689C>A) c.*1853C>A (n.*1853C>A) c.2488C>A (p.Pro830Thr) c.3109C>A (p.Pro1037Thr) c.2776C>A (p.Pro926Thr) c.2857C>A (p.Pro953Thr) c.2875C>A (p.Pro959Thr) n.3248C>A n.3472C>A c.2044C>A (p.Pro682Thr) c.1819C>A (p.Pro607Thr) c.2914C>A (p.Pro972Thr) n.329C>A c.1022-1689C>A c.*210C>A (n.*210C>A) n.3853C>A n.2454C>A c.2965C>A (p.Pro989Thr) n.455C>A c.3013C>A (p.Pro1005Thr) c.3073C>A (p.Pro1025Thr) c.2623C>A (p.Pro875Thr) c.925C>A (p.Pro309Thr) c.877-1689C>A (n.877-1689C>A) c.2974C>A (p.Pro992Thr) c.3061-1689C>A (n.3061-1689C>A) c.2695C>A (p.Pro899Thr) c.2731-1689C>A (n.2731-1689C>A) c.1777C>A (p.Pro593Thr) n.3328C>A | |
13 | g.51944244G>A | CA483894744 | ATP7B | c.*894-1690C>T (n.*894-1690C>T) c.*1852C>T (n.*1852C>T) c.2487C>T (p.Val829=) c.3108C>T (p.Val1036=) c.2775C>T (p.Val925=) c.2856C>T (p.Val952=) c.2874C>T (p.Val958=) n.3247C>T n.3471C>T c.2043C>T (p.Val681=) c.1818C>T (p.Val606=) c.2913C>T (p.Val971=) n.328C>T c.1022-1690C>T c.*209C>T (n.*209C>T) n.3852C>T n.2453C>T c.2964C>T (p.Val988=) n.454C>T c.3012C>T (p.Val1004=) c.3072C>T (p.Val1024=) c.2622C>T (p.Val874=) c.924C>T (p.Val308=) c.877-1690C>T (n.877-1690C>T) c.2973C>T (p.Val991=) c.3061-1690C>T (n.3061-1690C>T) c.2694C>T (p.Val898=) c.2731-1690C>T (n.2731-1690C>T) c.1776C>T (p.Val592=) n.3327C>T | |
13 | g.51944244G>C | CA483894745 | ATP7B | c.*894-1690C>G (n.*894-1690C>G) c.*1852C>G (n.*1852C>G) c.2487C>G (p.Val829=) c.3108C>G (p.Val1036=) c.2775C>G (p.Val925=) c.2856C>G (p.Val952=) c.2874C>G (p.Val958=) n.3247C>G n.3471C>G c.2043C>G (p.Val681=) c.1818C>G (p.Val606=) c.2913C>G (p.Val971=) n.328C>G c.1022-1690C>G c.*209C>G (n.*209C>G) n.3852C>G n.2453C>G c.2964C>G (p.Val988=) n.454C>G c.3012C>G (p.Val1004=) c.3072C>G (p.Val1024=) c.2622C>G (p.Val874=) c.924C>G (p.Val308=) c.877-1690C>G (n.877-1690C>G) c.2973C>G (p.Val991=) c.3061-1690C>G (n.3061-1690C>G) c.2694C>G (p.Val898=) c.2731-1690C>G (n.2731-1690C>G) c.1776C>G (p.Val592=) n.3327C>G | |
13 | g.51944244G= | CA2091564094 | ATP7B | c.*894-1690C= (n.*894-1690C=) c.*1852C= (n.*1852C=) c.2487C= (p.Val829=) c.3108C= (p.Val1036=) c.2775C= (p.Val925=) c.2856C= (p.Val952=) c.2874C= (p.Val958=) n.3247C= n.3471C= c.2043C= (p.Val681=) c.1818C= (p.Val606=) c.2913C= (p.Val971=) n.328C= c.1022-1690C= c.*209C= (n.*209C=) n.3852C= n.2453C= c.2964C= (p.Val988=) n.454C= c.3012C= (p.Val1004=) c.3072C= (p.Val1024=) c.2622C= (p.Val874=) c.924C= (p.Val308=) c.877-1690C= (n.877-1690C=) c.2973C= (p.Val991=) c.3061-1690C= (n.3061-1690C=) c.2694C= (p.Val898=) c.2731-1690C= (n.2731-1690C=) c.1776C= (p.Val592=) n.3327C= | |
13 | g.51944244G>T | CA483894746 | ATP7B | c.*894-1690C>A (n.*894-1690C>A) c.*1852C>A (n.*1852C>A) c.2487C>A (p.Val829=) c.3108C>A (p.Val1036=) c.2775C>A (p.Val925=) c.2856C>A (p.Val952=) c.2874C>A (p.Val958=) n.3247C>A n.3471C>A c.2043C>A (p.Val681=) c.1818C>A (p.Val606=) c.2913C>A (p.Val971=) n.328C>A c.1022-1690C>A c.*209C>A (n.*209C>A) n.3852C>A n.2453C>A c.2964C>A (p.Val988=) n.454C>A c.3012C>A (p.Val1004=) c.3072C>A (p.Val1024=) c.2622C>A (p.Val874=) c.924C>A (p.Val308=) c.877-1690C>A (n.877-1690C>A) c.2973C>A (p.Val991=) c.3061-1690C>A (n.3061-1690C>A) c.2694C>A (p.Val898=) c.2731-1690C>A (n.2731-1690C>A) c.1776C>A (p.Val592=) n.3327C>A | ClinVar dbSNP gnomAD v4 |
13 | g.51944245A= | CA2091564102 | ATP7B | c.*894-1691T= (n.*894-1691T=) c.*1851T= (n.*1851T=) c.2486T= (p.Val829=) c.3107T= (p.Val1036=) c.2774T= (p.Val925=) c.2855T= (p.Val952=) c.2873T= (p.Val958=) n.3246T= n.3470T= c.2042T= (p.Val681=) c.1817T= (p.Val606=) c.2912T= (p.Val971=) n.327T= c.1022-1691T= c.*208T= (n.*208T=) n.3851T= n.2452T= c.2963T= (p.Val988=) n.453T= c.3011T= (p.Val1004=) c.3071T= (p.Val1024=) c.2621T= (p.Val874=) c.923T= (p.Val308=) c.877-1691T= (n.877-1691T=) c.2972T= (p.Val991=) c.3061-1691T= (n.3061-1691T=) c.2693T= (p.Val898=) c.2731-1691T= (n.2731-1691T=) c.1775T= (p.Val592=) n.3326T= | |
13 | g.51944245A>C | CA388030404 | ATP7B | c.*894-1691T>G (n.*894-1691T>G) c.*1851T>G (n.*1851T>G) c.2486T>G (p.Val829Gly) c.3107T>G (p.Val1036Gly) c.2774T>G (p.Val925Gly) c.2855T>G (p.Val952Gly) c.2873T>G (p.Val958Gly) n.3246T>G n.3470T>G c.2042T>G (p.Val681Gly) c.1817T>G (p.Val606Gly) c.2912T>G (p.Val971Gly) n.327T>G c.1022-1691T>G c.*208T>G (n.*208T>G) n.3851T>G n.2452T>G c.2963T>G (p.Val988Gly) n.453T>G c.3011T>G (p.Val1004Gly) c.3071T>G (p.Val1024Gly) c.2621T>G (p.Val874Gly) c.923T>G (p.Val308Gly) c.877-1691T>G (n.877-1691T>G) c.2972T>G (p.Val991Gly) c.3061-1691T>G (n.3061-1691T>G) c.2693T>G (p.Val898Gly) c.2731-1691T>G (n.2731-1691T>G) c.1775T>G (p.Val592Gly) n.3326T>G | |
13 | g.51944245A>G | CA388030406 | ATP7B | c.*894-1691T>C (n.*894-1691T>C) c.*1851T>C (n.*1851T>C) c.2486T>C (p.Val829Ala) c.3107T>C (p.Val1036Ala) c.2774T>C (p.Val925Ala) c.2855T>C (p.Val952Ala) c.2873T>C (p.Val958Ala) n.3246T>C n.3470T>C c.2042T>C (p.Val681Ala) c.1817T>C (p.Val606Ala) c.2912T>C (p.Val971Ala) n.327T>C c.1022-1691T>C c.*208T>C (n.*208T>C) n.3851T>C n.2452T>C c.2963T>C (p.Val988Ala) n.453T>C c.3011T>C (p.Val1004Ala) c.3071T>C (p.Val1024Ala) c.2621T>C (p.Val874Ala) c.923T>C (p.Val308Ala) c.877-1691T>C (n.877-1691T>C) c.2972T>C (p.Val991Ala) c.3061-1691T>C (n.3061-1691T>C) c.2693T>C (p.Val898Ala) c.2731-1691T>C (n.2731-1691T>C) c.1775T>C (p.Val592Ala) n.3326T>C | |
13 | g.51944245A>T | CA388030408 | ATP7B | c.*894-1691T>A (n.*894-1691T>A) c.*1851T>A (n.*1851T>A) c.2486T>A (p.Val829Asp) c.3107T>A (p.Val1036Asp) c.2774T>A (p.Val925Asp) c.2855T>A (p.Val952Asp) c.2873T>A (p.Val958Asp) n.3246T>A n.3470T>A c.2042T>A (p.Val681Asp) c.1817T>A (p.Val606Asp) c.2912T>A (p.Val971Asp) n.327T>A c.1022-1691T>A c.*208T>A (n.*208T>A) n.3851T>A n.2452T>A c.2963T>A (p.Val988Asp) n.453T>A c.3011T>A (p.Val1004Asp) c.3071T>A (p.Val1024Asp) c.2621T>A (p.Val874Asp) c.923T>A (p.Val308Asp) c.877-1691T>A (n.877-1691T>A) c.2972T>A (p.Val991Asp) c.3061-1691T>A (n.3061-1691T>A) c.2693T>A (p.Val898Asp) c.2731-1691T>A (n.2731-1691T>A) c.1775T>A (p.Val592Asp) n.3326T>A | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944245dup | CA10605504 | ATP7B | c.*894-1691dup (n.*894-1691dup) c.*1851dup (n.*1851dup) c.2486dup (p.Arg831GlnfsTer?) c.3107dup (p.Arg1038GlnfsTer?) c.2774dup (p.Arg927GlnfsTer?) c.2855dup (p.Arg954GlnfsTer?) c.2873dup (p.Arg960GlnfsTer?) n.3246dup n.3470dup c.2042dup (p.Arg683GlnfsTer?) c.1817dup (p.Arg608GlnfsTer?) c.2912dup (p.Arg973GlnfsTer?) n.327dup c.1022-1691dup c.*208dup (n.*208dup) n.3851dup n.2452dup c.2963dup (p.Arg990GlnfsTer?) n.453dup c.3011dup (p.Arg1006GlnfsTer?) c.3071dup (p.Arg1026GlnfsTer?) c.2621dup (p.Arg876GlnfsTer?) c.923dup (p.Arg310GlnfsTer?) c.877-1691dup (n.877-1691dup) c.2972dup (p.Arg993GlnfsTer?) c.3061-1691dup (n.3061-1691dup) c.2693dup (p.Arg900GlnfsTer?) c.2731-1691dup (n.2731-1691dup) c.1775dup (p.Arg594GlnfsTer?) n.3326dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944246C>A | CA388030411 | ATP7B | c.*894-1692G>T (n.*894-1692G>T) c.*1850G>T (n.*1850G>T) c.2485G>T (p.Val829Phe) c.3106G>T (p.Val1036Phe) c.2773G>T (p.Val925Phe) c.2854G>T (p.Val952Phe) c.2872G>T (p.Val958Phe) n.3245G>T n.3469G>T c.2041G>T (p.Val681Phe) c.1816G>T (p.Val606Phe) c.2911G>T (p.Val971Phe) n.326G>T c.1022-1692G>T c.*207G>T (n.*207G>T) n.3850G>T n.2451G>T c.2962G>T (p.Val988Phe) n.452G>T c.3010G>T (p.Val1004Phe) c.3070G>T (p.Val1024Phe) c.2620G>T (p.Val874Phe) c.922G>T (p.Val308Phe) c.877-1692G>T (n.877-1692G>T) c.2971G>T (p.Val991Phe) c.3061-1692G>T (n.3061-1692G>T) c.2692G>T (p.Val898Phe) c.2731-1692G>T (n.2731-1692G>T) c.1774G>T (p.Val592Phe) n.3325G>T | ClinVar dbSNP gnomAD v4 |
13 | g.51944246C= | CA2091564110 | ATP7B | c.*894-1692G= (n.*894-1692G=) c.*1850G= (n.*1850G=) c.2485G= (p.Val829=) c.3106G= (p.Val1036=) c.2773G= (p.Val925=) c.2854G= (p.Val952=) c.2872G= (p.Val958=) n.3245G= n.3469G= c.2041G= (p.Val681=) c.1816G= (p.Val606=) c.2911G= (p.Val971=) n.326G= c.1022-1692G= c.*207G= (n.*207G=) n.3850G= n.2451G= c.2962G= (p.Val988=) n.452G= c.3010G= (p.Val1004=) c.3070G= (p.Val1024=) c.2620G= (p.Val874=) c.922G= (p.Val308=) c.877-1692G= (n.877-1692G=) c.2971G= (p.Val991=) c.3061-1692G= (n.3061-1692G=) c.2692G= (p.Val898=) c.2731-1692G= (n.2731-1692G=) c.1774G= (p.Val592=) n.3325G= | |
13 | g.51944246C>G | CA388030424 | ATP7B | c.*894-1692G>C (n.*894-1692G>C) c.*1850G>C (n.*1850G>C) c.2485G>C (p.Val829Leu) c.3106G>C (p.Val1036Leu) c.2773G>C (p.Val925Leu) c.2854G>C (p.Val952Leu) c.2872G>C (p.Val958Leu) n.3245G>C n.3469G>C c.2041G>C (p.Val681Leu) c.1816G>C (p.Val606Leu) c.2911G>C (p.Val971Leu) n.326G>C c.1022-1692G>C c.*207G>C (n.*207G>C) n.3850G>C n.2451G>C c.2962G>C (p.Val988Leu) n.452G>C c.3010G>C (p.Val1004Leu) c.3070G>C (p.Val1024Leu) c.2620G>C (p.Val874Leu) c.922G>C (p.Val308Leu) c.877-1692G>C (n.877-1692G>C) c.2971G>C (p.Val991Leu) c.3061-1692G>C (n.3061-1692G>C) c.2692G>C (p.Val898Leu) c.2731-1692G>C (n.2731-1692G>C) c.1774G>C (p.Val592Leu) n.3325G>C | |
13 | g.51944246C>T | CA6988807 | ATP7B | c.*894-1692G>A (n.*894-1692G>A) c.*1850G>A (n.*1850G>A) c.2485G>A (p.Val829Ile) c.3106G>A (p.Val1036Ile) c.2773G>A (p.Val925Ile) c.2854G>A (p.Val952Ile) c.2872G>A (p.Val958Ile) n.3245G>A n.3469G>A c.2041G>A (p.Val681Ile) c.1816G>A (p.Val606Ile) c.2911G>A (p.Val971Ile) n.326G>A c.1022-1692G>A c.*207G>A (n.*207G>A) n.3850G>A n.2451G>A c.2962G>A (p.Val988Ile) n.452G>A c.3010G>A (p.Val1004Ile) c.3070G>A (p.Val1024Ile) c.2620G>A (p.Val874Ile) c.922G>A (p.Val308Ile) c.877-1692G>A (n.877-1692G>A) c.2971G>A (p.Val991Ile) c.3061-1692G>A (n.3061-1692G>A) c.2692G>A (p.Val898Ile) c.2731-1692G>A (n.2731-1692G>A) c.1774G>A (p.Val592Ile) n.3325G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.51944247G>A | CA6988808 | ATP7B | c.*894-1693C>T (n.*894-1693C>T) c.*1849C>T (n.*1849C>T) c.2484C>T (p.Gly828=) c.3105C>T (p.Gly1035=) c.2772C>T (p.Gly924=) c.2853C>T (p.Gly951=) c.2871C>T (p.Gly957=) n.3244C>T n.3468C>T c.2040C>T (p.Gly680=) c.1815C>T (p.Gly605=) c.2910C>T (p.Gly970=) n.325C>T c.1022-1693C>T c.*206C>T (n.*206C>T) n.3849C>T n.2450C>T c.2961C>T (p.Gly987=) n.451C>T c.3009C>T (p.Gly1003=) c.3069C>T (p.Gly1023=) c.2619C>T (p.Gly873=) c.921C>T (p.Gly307=) c.877-1693C>T (n.877-1693C>T) c.2970C>T (p.Gly990=) c.3061-1693C>T (n.3061-1693C>T) c.2691C>T (p.Gly897=) c.2731-1693C>T (n.2731-1693C>T) c.1773C>T (p.Gly591=) n.3324C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944247G>C | CA483894747 | ATP7B | c.*894-1693C>G (n.*894-1693C>G) c.*1849C>G (n.*1849C>G) c.2484C>G (p.Gly828=) c.3105C>G (p.Gly1035=) c.2772C>G (p.Gly924=) c.2853C>G (p.Gly951=) c.2871C>G (p.Gly957=) n.3244C>G n.3468C>G c.2040C>G (p.Gly680=) c.1815C>G (p.Gly605=) c.2910C>G (p.Gly970=) n.325C>G c.1022-1693C>G c.*206C>G (n.*206C>G) n.3849C>G n.2450C>G c.2961C>G (p.Gly987=) n.451C>G c.3009C>G (p.Gly1003=) c.3069C>G (p.Gly1023=) c.2619C>G (p.Gly873=) c.921C>G (p.Gly307=) c.877-1693C>G (n.877-1693C>G) c.2970C>G (p.Gly990=) c.3061-1693C>G (n.3061-1693C>G) c.2691C>G (p.Gly897=) c.2731-1693C>G (n.2731-1693C>G) c.1773C>G (p.Gly591=) n.3324C>G | |
13 | g.51944247G= | CA2091564117 | ATP7B | c.*894-1693C= (n.*894-1693C=) c.*1849C= (n.*1849C=) c.2484C= (p.Gly828=) c.3105C= (p.Gly1035=) c.2772C= (p.Gly924=) c.2853C= (p.Gly951=) c.2871C= (p.Gly957=) n.3244C= n.3468C= c.2040C= (p.Gly680=) c.1815C= (p.Gly605=) c.2910C= (p.Gly970=) n.325C= c.1022-1693C= c.*206C= (n.*206C=) n.3849C= n.2450C= c.2961C= (p.Gly987=) n.451C= c.3009C= (p.Gly1003=) c.3069C= (p.Gly1023=) c.2619C= (p.Gly873=) c.921C= (p.Gly307=) c.877-1693C= (n.877-1693C=) c.2970C= (p.Gly990=) c.3061-1693C= (n.3061-1693C=) c.2691C= (p.Gly897=) c.2731-1693C= (n.2731-1693C=) c.1773C= (p.Gly591=) n.3324C= | |
13 | g.51944247G>T | CA483894748 | ATP7B | c.*894-1693C>A (n.*894-1693C>A) c.*1849C>A (n.*1849C>A) c.2484C>A (p.Gly828=) c.3105C>A (p.Gly1035=) c.2772C>A (p.Gly924=) c.2853C>A (p.Gly951=) c.2871C>A (p.Gly957=) n.3244C>A n.3468C>A c.2040C>A (p.Gly680=) c.1815C>A (p.Gly605=) c.2910C>A (p.Gly970=) n.325C>A c.1022-1693C>A c.*206C>A (n.*206C>A) n.3849C>A n.2450C>A c.2961C>A (p.Gly987=) n.451C>A c.3009C>A (p.Gly1003=) c.3069C>A (p.Gly1023=) c.2619C>A (p.Gly873=) c.921C>A (p.Gly307=) c.877-1693C>A (n.877-1693C>A) c.2970C>A (p.Gly990=) c.3061-1693C>A (n.3061-1693C>A) c.2691C>A (p.Gly897=) c.2731-1693C>A (n.2731-1693C>A) c.1773C>A (p.Gly591=) n.3324C>A | ClinVar dbSNP gnomAD v4 |
13 | g.51944247dup | CA2695218749 | ATP7B | c.*894-1693dup (n.*894-1693dup) c.*1849dup (n.*1849dup) c.2484dup (p.Val829ArgfsTer?) c.3105dup (p.Val1036ArgfsTer?) c.2772dup (p.Val925ArgfsTer?) c.2853dup (p.Val952ArgfsTer?) c.2871dup (p.Val958ArgfsTer?) n.3244dup n.3468dup c.2040dup (p.Val681ArgfsTer?) c.1815dup (p.Val606ArgfsTer?) c.2910dup (p.Val971ArgfsTer?) n.325dup c.1022-1693dup c.*206dup (n.*206dup) n.3849dup n.2450dup c.2961dup (p.Val988ArgfsTer?) n.451dup c.3009dup (p.Val1004ArgfsTer?) c.3069dup (p.Val1024ArgfsTer?) c.2619dup (p.Val874ArgfsTer?) c.921dup (p.Val308ArgfsTer?) c.877-1693dup (n.877-1693dup) c.2970dup (p.Val991ArgfsTer?) c.3061-1693dup (n.3061-1693dup) c.2691dup (p.Val898ArgfsTer?) c.2731-1693dup (n.2731-1693dup) c.1773dup (p.Val592ArgfsTer?) n.3324dup | |
13 | g.51944248C>A | CA16041666 | ATP7B | c.*894-1694G>T (n.*894-1694G>T) c.*1848G>T (n.*1848G>T) c.2483G>T (p.Gly828Val) c.3104G>T (p.Gly1035Val) c.2771G>T (p.Gly924Val) c.2852G>T (p.Gly951Val) c.2870G>T (p.Gly957Val) n.3243G>T n.3467G>T c.2039G>T (p.Gly680Val) c.1814G>T (p.Gly605Val) c.2909G>T (p.Gly970Val) n.324G>T c.1022-1694G>T c.*205G>T (n.*205G>T) n.3848G>T n.2449G>T c.2960G>T (p.Gly987Val) n.450G>T c.3008G>T (p.Gly1003Val) c.3068G>T (p.Gly1023Val) c.2618G>T (p.Gly873Val) c.920G>T (p.Gly307Val) c.877-1694G>T (n.877-1694G>T) c.2969G>T (p.Gly990Val) c.3061-1694G>T (n.3061-1694G>T) c.2690G>T (p.Gly897Val) c.2731-1694G>T (n.2731-1694G>T) c.1772G>T (p.Gly591Val) n.3323G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944248C= | CA2091564126 | ATP7B | c.*894-1694G= (n.*894-1694G=) c.*1848G= (n.*1848G=) c.2483G= (p.Gly828=) c.3104G= (p.Gly1035=) c.2771G= (p.Gly924=) c.2852G= (p.Gly951=) c.2870G= (p.Gly957=) n.3243G= n.3467G= c.2039G= (p.Gly680=) c.1814G= (p.Gly605=) c.2909G= (p.Gly970=) n.324G= c.1022-1694G= c.*205G= (n.*205G=) n.3848G= n.2449G= c.2960G= (p.Gly987=) n.450G= c.3008G= (p.Gly1003=) c.3068G= (p.Gly1023=) c.2618G= (p.Gly873=) c.920G= (p.Gly307=) c.877-1694G= (n.877-1694G=) c.2969G= (p.Gly990=) c.3061-1694G= (n.3061-1694G=) c.2690G= (p.Gly897=) c.2731-1694G= (n.2731-1694G=) c.1772G= (p.Gly591=) n.3323G= | |
13 | g.51944248C>G | CA388030434 | ATP7B | c.*894-1694G>C (n.*894-1694G>C) c.*1848G>C (n.*1848G>C) c.2483G>C (p.Gly828Ala) c.3104G>C (p.Gly1035Ala) c.2771G>C (p.Gly924Ala) c.2852G>C (p.Gly951Ala) c.2870G>C (p.Gly957Ala) n.3243G>C n.3467G>C c.2039G>C (p.Gly680Ala) c.1814G>C (p.Gly605Ala) c.2909G>C (p.Gly970Ala) n.324G>C c.1022-1694G>C c.*205G>C (n.*205G>C) n.3848G>C n.2449G>C c.2960G>C (p.Gly987Ala) n.450G>C c.3008G>C (p.Gly1003Ala) c.3068G>C (p.Gly1023Ala) c.2618G>C (p.Gly873Ala) c.920G>C (p.Gly307Ala) c.877-1694G>C (n.877-1694G>C) c.2969G>C (p.Gly990Ala) c.3061-1694G>C (n.3061-1694G>C) c.2690G>C (p.Gly897Ala) c.2731-1694G>C (n.2731-1694G>C) c.1772G>C (p.Gly591Ala) n.3323G>C | |
13 | g.51944248C>T | CA6988809 | ATP7B | c.*894-1694G>A (n.*894-1694G>A) c.*1848G>A (n.*1848G>A) c.2483G>A (p.Gly828Asp) c.3104G>A (p.Gly1035Asp) c.2771G>A (p.Gly924Asp) c.2852G>A (p.Gly951Asp) c.2870G>A (p.Gly957Asp) n.3243G>A n.3467G>A c.2039G>A (p.Gly680Asp) c.1814G>A (p.Gly605Asp) c.2909G>A (p.Gly970Asp) n.324G>A c.1022-1694G>A c.*205G>A (n.*205G>A) n.3848G>A n.2449G>A c.2960G>A (p.Gly987Asp) n.450G>A c.3008G>A (p.Gly1003Asp) c.3068G>A (p.Gly1023Asp) c.2618G>A (p.Gly873Asp) c.920G>A (p.Gly307Asp) c.877-1694G>A (n.877-1694G>A) c.2969G>A (p.Gly990Asp) c.3061-1694G>A (n.3061-1694G>A) c.2690G>A (p.Gly897Asp) c.2731-1694G>A (n.2731-1694G>A) c.1772G>A (p.Gly591Asp) n.3323G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944249C>A | CA388030438 | ATP7B | c.*894-1695G>T (n.*894-1695G>T) c.*1847G>T (n.*1847G>T) c.2482G>T (p.Gly828Cys) c.3103G>T (p.Gly1035Cys) c.2770G>T (p.Gly924Cys) c.2851G>T (p.Gly951Cys) c.2869G>T (p.Gly957Cys) n.3242G>T n.3466G>T c.2038G>T (p.Gly680Cys) c.1813G>T (p.Gly605Cys) c.2908G>T (p.Gly970Cys) n.323G>T c.1022-1695G>T c.*204G>T (n.*204G>T) n.3847G>T n.2448G>T c.2959G>T (p.Gly987Cys) n.449G>T c.3007G>T (p.Gly1003Cys) c.3067G>T (p.Gly1023Cys) c.2617G>T (p.Gly873Cys) c.919G>T (p.Gly307Cys) c.877-1695G>T (n.877-1695G>T) c.2968G>T (p.Gly990Cys) c.3061-1695G>T (n.3061-1695G>T) c.2689G>T (p.Gly897Cys) c.2731-1695G>T (n.2731-1695G>T) c.1771G>T (p.Gly591Cys) n.3322G>T | |
13 | g.51944249C>G | CA388030442 | ATP7B | c.*894-1695G>C (n.*894-1695G>C) c.*1847G>C (n.*1847G>C) c.2482G>C (p.Gly828Arg) c.3103G>C (p.Gly1035Arg) c.2770G>C (p.Gly924Arg) c.2851G>C (p.Gly951Arg) c.2869G>C (p.Gly957Arg) n.3242G>C n.3466G>C c.2038G>C (p.Gly680Arg) c.1813G>C (p.Gly605Arg) c.2908G>C (p.Gly970Arg) n.323G>C c.1022-1695G>C c.*204G>C (n.*204G>C) n.3847G>C n.2448G>C c.2959G>C (p.Gly987Arg) n.449G>C c.3007G>C (p.Gly1003Arg) c.3067G>C (p.Gly1023Arg) c.2617G>C (p.Gly873Arg) c.919G>C (p.Gly307Arg) c.877-1695G>C (n.877-1695G>C) c.2968G>C (p.Gly990Arg) c.3061-1695G>C (n.3061-1695G>C) c.2689G>C (p.Gly897Arg) c.2731-1695G>C (n.2731-1695G>C) c.1771G>C (p.Gly591Arg) n.3322G>C | |
13 | g.51944249C>T | CA388030443 | ATP7B | c.*894-1695G>A (n.*894-1695G>A) c.*1847G>A (n.*1847G>A) c.2482G>A (p.Gly828Ser) c.3103G>A (p.Gly1035Ser) c.2770G>A (p.Gly924Ser) c.2851G>A (p.Gly951Ser) c.2869G>A (p.Gly957Ser) n.3242G>A n.3466G>A c.2038G>A (p.Gly680Ser) c.1813G>A (p.Gly605Ser) c.2908G>A (p.Gly970Ser) n.323G>A c.1022-1695G>A c.*204G>A (n.*204G>A) n.3847G>A n.2448G>A c.2959G>A (p.Gly987Ser) n.449G>A c.3007G>A (p.Gly1003Ser) c.3067G>A (p.Gly1023Ser) c.2617G>A (p.Gly873Ser) c.919G>A (p.Gly307Ser) c.877-1695G>A (n.877-1695G>A) c.2968G>A (p.Gly990Ser) c.3061-1695G>A (n.3061-1695G>A) c.2689G>A (p.Gly897Ser) c.2731-1695G>A (n.2731-1695G>A) c.1771G>A (p.Gly591Ser) n.3322G>A | |
13 | g.51944250A= | CA2091564130 | ATP7B | c.*894-1696T= (n.*894-1696T=) c.*1846T= (n.*1846T=) c.2481T= (p.His827=) c.3102T= (p.His1034=) c.2769T= (p.His923=) c.2850T= (p.His950=) c.2868T= (p.His956=) n.3241T= n.3465T= c.2037T= (p.His679=) c.1812T= (p.His604=) c.2907T= (p.His969=) n.322T= c.1022-1696T= c.*203T= (n.*203T=) n.3846T= n.2447T= c.2958T= (p.His986=) n.448T= c.3006T= (p.His1002=) c.3066T= (p.His1022=) c.2616T= (p.His872=) c.918T= (p.His306=) c.877-1696T= (n.877-1696T=) c.2967T= (p.His989=) c.3061-1696T= (n.3061-1696T=) c.2688T= (p.His896=) c.2731-1696T= (n.2731-1696T=) c.1770T= (p.His590=) n.3321T= | |
13 | g.51944250A>C | CA388030444 | ATP7B | c.*894-1696T>G (n.*894-1696T>G) c.*1846T>G (n.*1846T>G) c.2481T>G (p.His827Gln) c.3102T>G (p.His1034Gln) c.2769T>G (p.His923Gln) c.2850T>G (p.His950Gln) c.2868T>G (p.His956Gln) n.3241T>G n.3465T>G c.2037T>G (p.His679Gln) c.1812T>G (p.His604Gln) c.2907T>G (p.His969Gln) n.322T>G c.1022-1696T>G c.*203T>G (n.*203T>G) n.3846T>G n.2447T>G c.2958T>G (p.His986Gln) n.448T>G c.3006T>G (p.His1002Gln) c.3066T>G (p.His1022Gln) c.2616T>G (p.His872Gln) c.918T>G (p.His306Gln) c.877-1696T>G (n.877-1696T>G) c.2967T>G (p.His989Gln) c.3061-1696T>G (n.3061-1696T>G) c.2688T>G (p.His896Gln) c.2731-1696T>G (n.2731-1696T>G) c.1770T>G (p.His590Gln) n.3321T>G | |
13 | g.51944250A>G | CA483894749 | ATP7B | c.*894-1696T>C (n.*894-1696T>C) c.*1846T>C (n.*1846T>C) c.2481T>C (p.His827=) c.3102T>C (p.His1034=) c.2769T>C (p.His923=) c.2850T>C (p.His950=) c.2868T>C (p.His956=) n.3241T>C n.3465T>C c.2037T>C (p.His679=) c.1812T>C (p.His604=) c.2907T>C (p.His969=) n.322T>C c.1022-1696T>C c.*203T>C (n.*203T>C) n.3846T>C n.2447T>C c.2958T>C (p.His986=) n.448T>C c.3006T>C (p.His1002=) c.3066T>C (p.His1022=) c.2616T>C (p.His872=) c.918T>C (p.His306=) c.877-1696T>C (n.877-1696T>C) c.2967T>C (p.His989=) c.3061-1696T>C (n.3061-1696T>C) c.2688T>C (p.His896=) c.2731-1696T>C (n.2731-1696T>C) c.1770T>C (p.His590=) n.3321T>C | |
13 | g.51944250A>T | CA388030445 | ATP7B | c.*894-1696T>A (n.*894-1696T>A) c.*1846T>A (n.*1846T>A) c.2481T>A (p.His827Gln) c.3102T>A (p.His1034Gln) c.2769T>A (p.His923Gln) c.2850T>A (p.His950Gln) c.2868T>A (p.His956Gln) n.3241T>A n.3465T>A c.2037T>A (p.His679Gln) c.1812T>A (p.His604Gln) c.2907T>A (p.His969Gln) n.322T>A c.1022-1696T>A c.*203T>A (n.*203T>A) n.3846T>A n.2447T>A c.2958T>A (p.His986Gln) n.448T>A c.3006T>A (p.His1002Gln) c.3066T>A (p.His1022Gln) c.2616T>A (p.His872Gln) c.918T>A (p.His306Gln) c.877-1696T>A (n.877-1696T>A) c.2967T>A (p.His989Gln) c.3061-1696T>A (n.3061-1696T>A) c.2688T>A (p.His896Gln) c.2731-1696T>A (n.2731-1696T>A) c.1770T>A (p.His590Gln) n.3321T>A | |
13 | g.51944251T>A | CA388030446 | ATP7B | c.*894-1697A>T (n.*894-1697A>T) c.*1845A>T (n.*1845A>T) c.2480A>T (p.His827Leu) c.3101A>T (p.His1034Leu) c.2768A>T (p.His923Leu) c.2849A>T (p.His950Leu) c.2867A>T (p.His956Leu) n.3240A>T n.3464A>T c.2036A>T (p.His679Leu) c.1811A>T (p.His604Leu) c.2906A>T (p.His969Leu) n.321A>T c.1022-1697A>T c.*202A>T (n.*202A>T) n.3845A>T n.2446A>T c.2957A>T (p.His986Leu) n.447A>T c.3005A>T (p.His1002Leu) c.3065A>T (p.His1022Leu) c.2615A>T (p.His872Leu) c.917A>T (p.His306Leu) c.877-1697A>T (n.877-1697A>T) c.2966A>T (p.His989Leu) c.3061-1697A>T (n.3061-1697A>T) c.2687A>T (p.His896Leu) c.2731-1697A>T (n.2731-1697A>T) c.1769A>T (p.His590Leu) n.3320A>T | |
13 | g.51944251T>C | CA260138 | ATP7B | c.*894-1697A>G (n.*894-1697A>G) c.*1845A>G (n.*1845A>G) c.2480A>G (p.His827Arg) c.3101A>G (p.His1034Arg) c.2768A>G (p.His923Arg) c.2849A>G (p.His950Arg) c.2867A>G (p.His956Arg) n.3240A>G n.3464A>G c.2036A>G (p.His679Arg) c.1811A>G (p.His604Arg) c.2906A>G (p.His969Arg) n.321A>G c.1022-1697A>G c.*202A>G (n.*202A>G) n.3845A>G n.2446A>G c.2957A>G (p.His986Arg) n.447A>G c.3005A>G (p.His1002Arg) c.3065A>G (p.His1022Arg) c.2615A>G (p.His872Arg) c.917A>G (p.His306Arg) c.877-1697A>G (n.877-1697A>G) c.2966A>G (p.His989Arg) c.3061-1697A>G (n.3061-1697A>G) c.2687A>G (p.His896Arg) c.2731-1697A>G (n.2731-1697A>G) c.1769A>G (p.His590Arg) n.3320A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944251T>G | CA388030449 | ATP7B | c.*894-1697A>C (n.*894-1697A>C) c.*1845A>C (n.*1845A>C) c.2480A>C (p.His827Pro) c.3101A>C (p.His1034Pro) c.2768A>C (p.His923Pro) c.2849A>C (p.His950Pro) c.2867A>C (p.His956Pro) n.3240A>C n.3464A>C c.2036A>C (p.His679Pro) c.1811A>C (p.His604Pro) c.2906A>C (p.His969Pro) n.321A>C c.1022-1697A>C c.*202A>C (n.*202A>C) n.3845A>C n.2446A>C c.2957A>C (p.His986Pro) n.447A>C c.3005A>C (p.His1002Pro) c.3065A>C (p.His1022Pro) c.2615A>C (p.His872Pro) c.917A>C (p.His306Pro) c.877-1697A>C (n.877-1697A>C) c.2966A>C (p.His989Pro) c.3061-1697A>C (n.3061-1697A>C) c.2687A>C (p.His896Pro) c.2731-1697A>C (n.2731-1697A>C) c.1769A>C (p.His590Pro) n.3320A>C | |
13 | g.51944251T= | CA2091564141 | ATP7B | c.*894-1697A= (n.*894-1697A=) c.*1845A= (n.*1845A=) c.2480A= (p.His827=) c.3101A= (p.His1034=) c.2768A= (p.His923=) c.2849A= (p.His950=) c.2867A= (p.His956=) n.3240A= n.3464A= c.2036A= (p.His679=) c.1811A= (p.His604=) c.2906A= (p.His969=) n.321A= c.1022-1697A= c.*202A= (n.*202A=) n.3845A= n.2446A= c.2957A= (p.His986=) n.447A= c.3005A= (p.His1002=) c.3065A= (p.His1022=) c.2615A= (p.His872=) c.917A= (p.His306=) c.877-1697A= (n.877-1697A=) c.2966A= (p.His989=) c.3061-1697A= (n.3061-1697A=) c.2687A= (p.His896=) c.2731-1697A= (n.2731-1697A=) c.1769A= (p.His590=) n.3320A= | |
13 | g.51944251dup | CA1139663303 | ATP7B | c.*894-1697dup (n.*894-1697dup) c.*1845dup (n.*1845dup) c.2480dup (p.His827GlnfsTer?) c.3101dup (p.His1034GlnfsTer?) c.2768dup (p.His923GlnfsTer?) c.2849dup (p.His950GlnfsTer?) c.2867dup (p.His956GlnfsTer?) n.3240dup n.3464dup c.2036dup (p.His679GlnfsTer?) c.1811dup (p.His604GlnfsTer?) c.2906dup (p.His969GlnfsTer?) n.321dup c.1022-1697dup c.*202dup (n.*202dup) n.3845dup n.2446dup c.2957dup (p.His986GlnfsTer?) n.447dup c.3005dup (p.His1002GlnfsTer?) c.3065dup (p.His1022GlnfsTer?) c.2615dup (p.His872GlnfsTer?) c.917dup (p.His306GlnfsTer?) c.877-1697dup (n.877-1697dup) c.2966dup (p.His989GlnfsTer?) c.3061-1697dup (n.3061-1697dup) c.2687dup (p.His896GlnfsTer?) c.2731-1697dup (n.2731-1697dup) c.1769dup (p.His590GlnfsTer?) n.3320dup | ClinVar dbSNP |
13 | g.51944252G>A | CA388030454 | ATP7B | c.*894-1698C>T (n.*894-1698C>T) c.*1844C>T (n.*1844C>T) c.2479C>T (p.His827Tyr) c.3100C>T (p.His1034Tyr) c.2767C>T (p.His923Tyr) c.2848C>T (p.His950Tyr) c.2866C>T (p.His956Tyr) n.3239C>T n.3463C>T c.2035C>T (p.His679Tyr) c.1810C>T (p.His604Tyr) c.2905C>T (p.His969Tyr) n.320C>T c.1022-1698C>T c.*201C>T (n.*201C>T) n.3844C>T n.2445C>T c.2956C>T (p.His986Tyr) n.446C>T c.3004C>T (p.His1002Tyr) c.3064C>T (p.His1022Tyr) c.2614C>T (p.His872Tyr) c.916C>T (p.His306Tyr) c.877-1698C>T (n.877-1698C>T) c.2965C>T (p.His989Tyr) c.3061-1698C>T (n.3061-1698C>T) c.2686C>T (p.His896Tyr) c.2731-1698C>T (n.2731-1698C>T) c.1768C>T (p.His590Tyr) n.3319C>T | |
13 | g.51944252G>C | CA388030457 | ATP7B | c.*894-1698C>G (n.*894-1698C>G) c.*1844C>G (n.*1844C>G) c.2479C>G (p.His827Asp) c.3100C>G (p.His1034Asp) c.2767C>G (p.His923Asp) c.2848C>G (p.His950Asp) c.2866C>G (p.His956Asp) n.3239C>G n.3463C>G c.2035C>G (p.His679Asp) c.1810C>G (p.His604Asp) c.2905C>G (p.His969Asp) n.320C>G c.1022-1698C>G c.*201C>G (n.*201C>G) n.3844C>G n.2445C>G c.2956C>G (p.His986Asp) n.446C>G c.3004C>G (p.His1002Asp) c.3064C>G (p.His1022Asp) c.2614C>G (p.His872Asp) c.916C>G (p.His306Asp) c.877-1698C>G (n.877-1698C>G) c.2965C>G (p.His989Asp) c.3061-1698C>G (n.3061-1698C>G) c.2686C>G (p.His896Asp) c.2731-1698C>G (n.2731-1698C>G) c.1768C>G (p.His590Asp) n.3319C>G | gnomAD v4 |
13 | g.51944252G= | CA2091564149 | ATP7B | c.*894-1698C= (n.*894-1698C=) c.*1844C= (n.*1844C=) c.2479C= (p.His827=) c.3100C= (p.His1034=) c.2767C= (p.His923=) c.2848C= (p.His950=) c.2866C= (p.His956=) n.3239C= n.3463C= c.2035C= (p.His679=) c.1810C= (p.His604=) c.2905C= (p.His969=) n.320C= c.1022-1698C= c.*201C= (n.*201C=) n.3844C= n.2445C= c.2956C= (p.His986=) n.446C= c.3004C= (p.His1002=) c.3064C= (p.His1022=) c.2614C= (p.His872=) c.916C= (p.His306=) c.877-1698C= (n.877-1698C=) c.2965C= (p.His989=) c.3061-1698C= (n.3061-1698C=) c.2686C= (p.His896=) c.2731-1698C= (n.2731-1698C=) c.1768C= (p.His590=) n.3319C= | |
13 | g.51944252G>T | CA388030462 | ATP7B | c.*894-1698C>A (n.*894-1698C>A) c.*1844C>A (n.*1844C>A) c.2479C>A (p.His827Asn) c.3100C>A (p.His1034Asn) c.2767C>A (p.His923Asn) c.2848C>A (p.His950Asn) c.2866C>A (p.His956Asn) n.3239C>A n.3463C>A c.2035C>A (p.His679Asn) c.1810C>A (p.His604Asn) c.2905C>A (p.His969Asn) n.320C>A c.1022-1698C>A c.*201C>A (n.*201C>A) n.3844C>A n.2445C>A c.2956C>A (p.His986Asn) n.446C>A c.3004C>A (p.His1002Asn) c.3064C>A (p.His1022Asn) c.2614C>A (p.His872Asn) c.916C>A (p.His306Asn) c.877-1698C>A (n.877-1698C>A) c.2965C>A (p.His989Asn) c.3061-1698C>A (n.3061-1698C>A) c.2686C>A (p.His896Asn) c.2731-1698C>A (n.2731-1698C>A) c.1768C>A (p.His590Asn) n.3319C>A | |
13 | g.51944253G>A | CA483894750 | ATP7B | c.*894-1699C>T (n.*894-1699C>T) c.*1843C>T (n.*1843C>T) c.2478C>T (p.Thr826=) c.3099C>T (p.Thr1033=) c.2766C>T (p.Thr922=) c.2847C>T (p.Thr949=) c.2865C>T (p.Thr955=) n.3238C>T n.3462C>T c.2034C>T (p.Thr678=) c.1809C>T (p.Thr603=) c.2904C>T (p.Thr968=) n.319C>T c.1022-1699C>T c.*200C>T (n.*200C>T) n.3843C>T n.2444C>T c.2955C>T (p.Thr985=) n.445C>T c.3003C>T (p.Thr1001=) c.3063C>T (p.Thr1021=) c.2613C>T (p.Thr871=) c.915C>T (p.Thr305=) c.877-1699C>T (n.877-1699C>T) c.2964C>T (p.Thr988=) c.3061-1699C>T (n.3061-1699C>T) c.2685C>T (p.Thr895=) c.2731-1699C>T (n.2731-1699C>T) c.1767C>T (p.Thr589=) n.3318C>T | ClinVar |
13 | g.51944253G>C | CA483894751 | ATP7B | c.*894-1699C>G (n.*894-1699C>G) c.*1843C>G (n.*1843C>G) c.2478C>G (p.Thr826=) c.3099C>G (p.Thr1033=) c.2766C>G (p.Thr922=) c.2847C>G (p.Thr949=) c.2865C>G (p.Thr955=) n.3238C>G n.3462C>G c.2034C>G (p.Thr678=) c.1809C>G (p.Thr603=) c.2904C>G (p.Thr968=) n.319C>G c.1022-1699C>G c.*200C>G (n.*200C>G) n.3843C>G n.2444C>G c.2955C>G (p.Thr985=) n.445C>G c.3003C>G (p.Thr1001=) c.3063C>G (p.Thr1021=) c.2613C>G (p.Thr871=) c.915C>G (p.Thr305=) c.877-1699C>G (n.877-1699C>G) c.2964C>G (p.Thr988=) c.3061-1699C>G (n.3061-1699C>G) c.2685C>G (p.Thr895=) c.2731-1699C>G (n.2731-1699C>G) c.1767C>G (p.Thr589=) n.3318C>G | |
13 | g.51944253G>T | CA483894752 | ATP7B | c.*894-1699C>A (n.*894-1699C>A) c.*1843C>A (n.*1843C>A) c.2478C>A (p.Thr826=) c.3099C>A (p.Thr1033=) c.2766C>A (p.Thr922=) c.2847C>A (p.Thr949=) c.2865C>A (p.Thr955=) n.3238C>A n.3462C>A c.2034C>A (p.Thr678=) c.1809C>A (p.Thr603=) c.2904C>A (p.Thr968=) n.319C>A c.1022-1699C>A c.*200C>A (n.*200C>A) n.3843C>A n.2444C>A c.2955C>A (p.Thr985=) n.445C>A c.3003C>A (p.Thr1001=) c.3063C>A (p.Thr1021=) c.2613C>A (p.Thr871=) c.915C>A (p.Thr305=) c.877-1699C>A (n.877-1699C>A) c.2964C>A (p.Thr988=) c.3061-1699C>A (n.3061-1699C>A) c.2685C>A (p.Thr895=) c.2731-1699C>A (n.2731-1699C>A) c.1767C>A (p.Thr589=) n.3318C>A | |
13 | g.51944256_51944261dup | CA2091564158 | ATP7B | c.*894-1704_*894-1699dup (n.*894-1704_*894-1699dup) c.*1838_*1843dup (n.*1838_*1843dup) c.2473_2478dup (p.Thr826_His827insIleThr) c.3094_3099dup (p.Thr1033_His1034insIleThr) c.2761_2766dup (p.Thr922_His923insIleThr) c.2842_2847dup (p.Thr949_His950insIleThr) c.2860_2865dup (p.Thr955_His956insIleThr) n.3233_3238dup n.3457_3462dup c.2029_2034dup (p.Thr678_His679insIleThr) c.1804_1809dup (p.Thr603_His604insIleThr) c.2899_2904dup (p.Thr968_His969insIleThr) n.314_319dup c.1022-1704_1022-1699dup c.*195_*200dup (n.*195_*200dup) n.3838_3843dup n.2439_2444dup c.2950_2955dup (p.Thr985_His986insIleThr) n.440_445dup c.2998_3003dup (p.Thr1001_His1002insIleThr) c.3058_3063dup (p.Thr1021_His1022insIleThr) c.2608_2613dup (p.Thr871_His872insIleThr) c.910_915dup (p.Thr305_His306insIleThr) c.877-1704_877-1699dup (n.877-1704_877-1699dup) c.2959_2964dup (p.Thr988_His989insIleThr) c.3061-1704_3061-1699dup (n.3061-1704_3061-1699dup) c.2680_2685dup (p.Thr895_His896insIleThr) c.2731-1704_2731-1699dup (n.2731-1704_2731-1699dup) c.1762_1767dup (p.Thr589_His590insIleThr) n.3313_3318dup | dbSNP |
13 | g.51944254G>A | CA388030475 | ATP7B | c.*894-1700C>T (n.*894-1700C>T) c.*1842C>T (n.*1842C>T) c.2477C>T (p.Thr826Ile) c.3098C>T (p.Thr1033Ile) c.2765C>T (p.Thr922Ile) c.2846C>T (p.Thr949Ile) c.2864C>T (p.Thr955Ile) n.3237C>T n.3461C>T c.2033C>T (p.Thr678Ile) c.1808C>T (p.Thr603Ile) c.2903C>T (p.Thr968Ile) n.318C>T c.1022-1700C>T c.*199C>T (n.*199C>T) n.3842C>T n.2443C>T c.2954C>T (p.Thr985Ile) n.444C>T c.3002C>T (p.Thr1001Ile) c.3062C>T (p.Thr1021Ile) c.2612C>T (p.Thr871Ile) c.914C>T (p.Thr305Ile) c.877-1700C>T (n.877-1700C>T) c.2963C>T (p.Thr988Ile) c.3061-1700C>T (n.3061-1700C>T) c.2684C>T (p.Thr895Ile) c.2731-1700C>T (n.2731-1700C>T) c.1766C>T (p.Thr589Ile) n.3317C>T | |
13 | g.51944254G>C | CA388030494 | ATP7B | c.*894-1700C>G (n.*894-1700C>G) c.*1842C>G (n.*1842C>G) c.2477C>G (p.Thr826Ser) c.3098C>G (p.Thr1033Ser) c.2765C>G (p.Thr922Ser) c.2846C>G (p.Thr949Ser) c.2864C>G (p.Thr955Ser) n.3237C>G n.3461C>G c.2033C>G (p.Thr678Ser) c.1808C>G (p.Thr603Ser) c.2903C>G (p.Thr968Ser) n.318C>G c.1022-1700C>G c.*199C>G (n.*199C>G) n.3842C>G n.2443C>G c.2954C>G (p.Thr985Ser) n.444C>G c.3002C>G (p.Thr1001Ser) c.3062C>G (p.Thr1021Ser) c.2612C>G (p.Thr871Ser) c.914C>G (p.Thr305Ser) c.877-1700C>G (n.877-1700C>G) c.2963C>G (p.Thr988Ser) c.3061-1700C>G (n.3061-1700C>G) c.2684C>G (p.Thr895Ser) c.2731-1700C>G (n.2731-1700C>G) c.1766C>G (p.Thr589Ser) n.3317C>G | |
13 | g.51944254G>T | CA388030472 | ATP7B | c.*894-1700C>A (n.*894-1700C>A) c.*1842C>A (n.*1842C>A) c.2477C>A (p.Thr826Asn) c.3098C>A (p.Thr1033Asn) c.2765C>A (p.Thr922Asn) c.2846C>A (p.Thr949Asn) c.2864C>A (p.Thr955Asn) n.3237C>A n.3461C>A c.2033C>A (p.Thr678Asn) c.1808C>A (p.Thr603Asn) c.2903C>A (p.Thr968Asn) n.318C>A c.1022-1700C>A c.*199C>A (n.*199C>A) n.3842C>A n.2443C>A c.2954C>A (p.Thr985Asn) n.444C>A c.3002C>A (p.Thr1001Asn) c.3062C>A (p.Thr1021Asn) c.2612C>A (p.Thr871Asn) c.914C>A (p.Thr305Asn) c.877-1700C>A (n.877-1700C>A) c.2963C>A (p.Thr988Asn) c.3061-1700C>A (n.3061-1700C>A) c.2684C>A (p.Thr895Asn) c.2731-1700C>A (n.2731-1700C>A) c.1766C>A (p.Thr589Asn) n.3317C>A | |
13 | g.51944255T>A | CA388030498 | ATP7B | c.*894-1701A>T (n.*894-1701A>T) c.*1841A>T (n.*1841A>T) c.2476A>T (p.Thr826Ser) c.3097A>T (p.Thr1033Ser) c.2764A>T (p.Thr922Ser) c.2845A>T (p.Thr949Ser) c.2863A>T (p.Thr955Ser) n.3236A>T n.3460A>T c.2032A>T (p.Thr678Ser) c.1807A>T (p.Thr603Ser) c.2902A>T (p.Thr968Ser) n.317A>T c.1022-1701A>T c.*198A>T (n.*198A>T) n.3841A>T n.2442A>T c.2953A>T (p.Thr985Ser) n.443A>T c.3001A>T (p.Thr1001Ser) c.3061A>T (p.Thr1021Ser) c.2611A>T (p.Thr871Ser) c.913A>T (p.Thr305Ser) c.877-1701A>T (n.877-1701A>T) c.2962A>T (p.Thr988Ser) c.3061-1701A>T (n.3061-1701A>T) c.2683A>T (p.Thr895Ser) c.2731-1701A>T (n.2731-1701A>T) c.1765A>T (p.Thr589Ser) n.3316A>T | |
13 | g.51944255T>C | CA388030499 | ATP7B | c.*894-1701A>G (n.*894-1701A>G) c.*1841A>G (n.*1841A>G) c.2476A>G (p.Thr826Ala) c.3097A>G (p.Thr1033Ala) c.2764A>G (p.Thr922Ala) c.2845A>G (p.Thr949Ala) c.2863A>G (p.Thr955Ala) n.3236A>G n.3460A>G c.2032A>G (p.Thr678Ala) c.1807A>G (p.Thr603Ala) c.2902A>G (p.Thr968Ala) n.317A>G c.1022-1701A>G c.*198A>G (n.*198A>G) n.3841A>G n.2442A>G c.2953A>G (p.Thr985Ala) n.443A>G c.3001A>G (p.Thr1001Ala) c.3061A>G (p.Thr1021Ala) c.2611A>G (p.Thr871Ala) c.913A>G (p.Thr305Ala) c.877-1701A>G (n.877-1701A>G) c.2962A>G (p.Thr988Ala) c.3061-1701A>G (n.3061-1701A>G) c.2683A>G (p.Thr895Ala) c.2731-1701A>G (n.2731-1701A>G) c.1765A>G (p.Thr589Ala) n.3316A>G | ClinVar dbSNP |
13 | g.51944255T>G | CA388030500 | ATP7B | c.*894-1701A>C (n.*894-1701A>C) c.*1841A>C (n.*1841A>C) c.2476A>C (p.Thr826Pro) c.3097A>C (p.Thr1033Pro) c.2764A>C (p.Thr922Pro) c.2845A>C (p.Thr949Pro) c.2863A>C (p.Thr955Pro) n.3236A>C n.3460A>C c.2032A>C (p.Thr678Pro) c.1807A>C (p.Thr603Pro) c.2902A>C (p.Thr968Pro) n.317A>C c.1022-1701A>C c.*198A>C (n.*198A>C) n.3841A>C n.2442A>C c.2953A>C (p.Thr985Pro) n.443A>C c.3001A>C (p.Thr1001Pro) c.3061A>C (p.Thr1021Pro) c.2611A>C (p.Thr871Pro) c.913A>C (p.Thr305Pro) c.877-1701A>C (n.877-1701A>C) c.2962A>C (p.Thr988Pro) c.3061-1701A>C (n.3061-1701A>C) c.2683A>C (p.Thr895Pro) c.2731-1701A>C (n.2731-1701A>C) c.1765A>C (p.Thr589Pro) n.3316A>C | |
13 | g.51944255T= | CA2091564166 | ATP7B | c.*894-1701A= (n.*894-1701A=) c.*1841A= (n.*1841A=) c.2476A= (p.Thr826=) c.3097A= (p.Thr1033=) c.2764A= (p.Thr922=) c.2845A= (p.Thr949=) c.2863A= (p.Thr955=) n.3236A= n.3460A= c.2032A= (p.Thr678=) c.1807A= (p.Thr603=) c.2902A= (p.Thr968=) n.317A= c.1022-1701A= c.*198A= (n.*198A=) n.3841A= n.2442A= c.2953A= (p.Thr985=) n.443A= c.3001A= (p.Thr1001=) c.3061A= (p.Thr1021=) c.2611A= (p.Thr871=) c.913A= (p.Thr305=) c.877-1701A= (n.877-1701A=) c.2962A= (p.Thr988=) c.3061-1701A= (n.3061-1701A=) c.2683A= (p.Thr895=) c.2731-1701A= (n.2731-1701A=) c.1765A= (p.Thr589=) n.3316A= | |
13 | g.51944256A>C | CA388030501 | ATP7B | c.*894-1702T>G (n.*894-1702T>G) c.*1840T>G (n.*1840T>G) c.2475T>G (p.Ile825Met) c.3096T>G (p.Ile1032Met) c.2763T>G (p.Ile921Met) c.2844T>G (p.Ile948Met) c.2862T>G (p.Ile954Met) n.3235T>G n.3459T>G c.2031T>G (p.Ile677Met) c.1806T>G (p.Ile602Met) c.2901T>G (p.Ile967Met) n.316T>G c.1022-1702T>G c.*197T>G (n.*197T>G) n.3840T>G n.2441T>G c.2952T>G (p.Ile984Met) n.442T>G c.3000T>G (p.Ile1000Met) c.3060T>G (p.Ile1020Met) c.2610T>G (p.Ile870Met) c.912T>G (p.Ile304Met) c.877-1702T>G (n.877-1702T>G) c.2961T>G (p.Ile987Met) c.3061-1702T>G (n.3061-1702T>G) c.2682T>G (p.Ile894Met) c.2731-1702T>G (n.2731-1702T>G) c.1764T>G (p.Ile588Met) n.3315T>G | |
13 | g.51944256A>G | CA483894754 | ATP7B | c.*894-1702T>C (n.*894-1702T>C) c.*1840T>C (n.*1840T>C) c.2475T>C (p.Ile825=) c.3096T>C (p.Ile1032=) c.2763T>C (p.Ile921=) c.2844T>C (p.Ile948=) c.2862T>C (p.Ile954=) n.3235T>C n.3459T>C c.2031T>C (p.Ile677=) c.1806T>C (p.Ile602=) c.2901T>C (p.Ile967=) n.316T>C c.1022-1702T>C c.*197T>C (n.*197T>C) n.3840T>C n.2441T>C c.2952T>C (p.Ile984=) n.442T>C c.3000T>C (p.Ile1000=) c.3060T>C (p.Ile1020=) c.2610T>C (p.Ile870=) c.912T>C (p.Ile304=) c.877-1702T>C (n.877-1702T>C) c.2961T>C (p.Ile987=) c.3061-1702T>C (n.3061-1702T>C) c.2682T>C (p.Ile894=) c.2731-1702T>C (n.2731-1702T>C) c.1764T>C (p.Ile588=) n.3315T>C | gnomAD v4 |
13 | g.51944256A>T | CA483894753 | ATP7B | c.*894-1702T>A (n.*894-1702T>A) c.*1840T>A (n.*1840T>A) c.2475T>A (p.Ile825=) c.3096T>A (p.Ile1032=) c.2763T>A (p.Ile921=) c.2844T>A (p.Ile948=) c.2862T>A (p.Ile954=) n.3235T>A n.3459T>A c.2031T>A (p.Ile677=) c.1806T>A (p.Ile602=) c.2901T>A (p.Ile967=) n.316T>A c.1022-1702T>A c.*197T>A (n.*197T>A) n.3840T>A n.2441T>A c.2952T>A (p.Ile984=) n.442T>A c.3000T>A (p.Ile1000=) c.3060T>A (p.Ile1020=) c.2610T>A (p.Ile870=) c.912T>A (p.Ile304=) c.877-1702T>A (n.877-1702T>A) c.2961T>A (p.Ile987=) c.3061-1702T>A (n.3061-1702T>A) c.2682T>A (p.Ile894=) c.2731-1702T>A (n.2731-1702T>A) c.1764T>A (p.Ile588=) n.3315T>A | |
13 | g.51944257A>C | CA388030504 | ATP7B | c.*894-1703T>G (n.*894-1703T>G) c.*1839T>G (n.*1839T>G) c.2474T>G (p.Ile825Ser) c.3095T>G (p.Ile1032Ser) c.2762T>G (p.Ile921Ser) c.2843T>G (p.Ile948Ser) c.2861T>G (p.Ile954Ser) n.3234T>G n.3458T>G c.2030T>G (p.Ile677Ser) c.1805T>G (p.Ile602Ser) c.2900T>G (p.Ile967Ser) n.315T>G c.1022-1703T>G c.*196T>G (n.*196T>G) n.3839T>G n.2440T>G c.2951T>G (p.Ile984Ser) n.441T>G c.2999T>G (p.Ile1000Ser) c.3059T>G (p.Ile1020Ser) c.2609T>G (p.Ile870Ser) c.911T>G (p.Ile304Ser) c.877-1703T>G (n.877-1703T>G) c.2960T>G (p.Ile987Ser) c.3061-1703T>G (n.3061-1703T>G) c.2681T>G (p.Ile894Ser) c.2731-1703T>G (n.2731-1703T>G) c.1763T>G (p.Ile588Ser) n.3314T>G | |
13 | g.51944257A>G | CA388030503 | ATP7B | c.*894-1703T>C (n.*894-1703T>C) c.*1839T>C (n.*1839T>C) c.2474T>C (p.Ile825Thr) c.3095T>C (p.Ile1032Thr) c.2762T>C (p.Ile921Thr) c.2843T>C (p.Ile948Thr) c.2861T>C (p.Ile954Thr) n.3234T>C n.3458T>C c.2030T>C (p.Ile677Thr) c.1805T>C (p.Ile602Thr) c.2900T>C (p.Ile967Thr) n.315T>C c.1022-1703T>C c.*196T>C (n.*196T>C) n.3839T>C n.2440T>C c.2951T>C (p.Ile984Thr) n.441T>C c.2999T>C (p.Ile1000Thr) c.3059T>C (p.Ile1020Thr) c.2609T>C (p.Ile870Thr) c.911T>C (p.Ile304Thr) c.877-1703T>C (n.877-1703T>C) c.2960T>C (p.Ile987Thr) c.3061-1703T>C (n.3061-1703T>C) c.2681T>C (p.Ile894Thr) c.2731-1703T>C (n.2731-1703T>C) c.1763T>C (p.Ile588Thr) n.3314T>C | gnomAD v4 |
13 | g.51944257A>T | CA388030502 | ATP7B | c.*894-1703T>A (n.*894-1703T>A) c.*1839T>A (n.*1839T>A) c.2474T>A (p.Ile825Asn) c.3095T>A (p.Ile1032Asn) c.2762T>A (p.Ile921Asn) c.2843T>A (p.Ile948Asn) c.2861T>A (p.Ile954Asn) n.3234T>A n.3458T>A c.2030T>A (p.Ile677Asn) c.1805T>A (p.Ile602Asn) c.2900T>A (p.Ile967Asn) n.315T>A c.1022-1703T>A c.*196T>A (n.*196T>A) n.3839T>A n.2440T>A c.2951T>A (p.Ile984Asn) n.441T>A c.2999T>A (p.Ile1000Asn) c.3059T>A (p.Ile1020Asn) c.2609T>A (p.Ile870Asn) c.911T>A (p.Ile304Asn) c.877-1703T>A (n.877-1703T>A) c.2960T>A (p.Ile987Asn) c.3061-1703T>A (n.3061-1703T>A) c.2681T>A (p.Ile894Asn) c.2731-1703T>A (n.2731-1703T>A) c.1763T>A (p.Ile588Asn) n.3314T>A | |
13 | g.51944258T>A | CA388030505 | ATP7B | c.*894-1704A>T (n.*894-1704A>T) c.*1838A>T (n.*1838A>T) c.2473A>T (p.Ile825Phe) c.3094A>T (p.Ile1032Phe) c.2761A>T (p.Ile921Phe) c.2842A>T (p.Ile948Phe) c.2860A>T (p.Ile954Phe) n.3233A>T n.3457A>T c.2029A>T (p.Ile677Phe) c.1804A>T (p.Ile602Phe) c.2899A>T (p.Ile967Phe) n.314A>T c.1022-1704A>T c.*195A>T (n.*195A>T) n.3838A>T n.2439A>T c.2950A>T (p.Ile984Phe) n.440A>T c.2998A>T (p.Ile1000Phe) c.3058A>T (p.Ile1020Phe) c.2608A>T (p.Ile870Phe) c.910A>T (p.Ile304Phe) c.877-1704A>T (n.877-1704A>T) c.2959A>T (p.Ile987Phe) c.3061-1704A>T (n.3061-1704A>T) c.2680A>T (p.Ile894Phe) c.2731-1704A>T (n.2731-1704A>T) c.1762A>T (p.Ile588Phe) n.3313A>T | |
13 | g.51944258T>C | CA6988810 | ATP7B | c.*894-1704A>G (n.*894-1704A>G) c.*1838A>G (n.*1838A>G) c.2473A>G (p.Ile825Val) c.3094A>G (p.Ile1032Val) c.2761A>G (p.Ile921Val) c.2842A>G (p.Ile948Val) c.2860A>G (p.Ile954Val) n.3233A>G n.3457A>G c.2029A>G (p.Ile677Val) c.1804A>G (p.Ile602Val) c.2899A>G (p.Ile967Val) n.314A>G c.1022-1704A>G c.*195A>G (n.*195A>G) n.3838A>G n.2439A>G c.2950A>G (p.Ile984Val) n.440A>G c.2998A>G (p.Ile1000Val) c.3058A>G (p.Ile1020Val) c.2608A>G (p.Ile870Val) c.910A>G (p.Ile304Val) c.877-1704A>G (n.877-1704A>G) c.2959A>G (p.Ile987Val) c.3061-1704A>G (n.3061-1704A>G) c.2680A>G (p.Ile894Val) c.2731-1704A>G (n.2731-1704A>G) c.1762A>G (p.Ile588Val) n.3313A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944258T>G | CA388030509 | ATP7B | c.*894-1704A>C (n.*894-1704A>C) c.*1838A>C (n.*1838A>C) c.2473A>C (p.Ile825Leu) c.3094A>C (p.Ile1032Leu) c.2761A>C (p.Ile921Leu) c.2842A>C (p.Ile948Leu) c.2860A>C (p.Ile954Leu) n.3233A>C n.3457A>C c.2029A>C (p.Ile677Leu) c.1804A>C (p.Ile602Leu) c.2899A>C (p.Ile967Leu) n.314A>C c.1022-1704A>C c.*195A>C (n.*195A>C) n.3838A>C n.2439A>C c.2950A>C (p.Ile984Leu) n.440A>C c.2998A>C (p.Ile1000Leu) c.3058A>C (p.Ile1020Leu) c.2608A>C (p.Ile870Leu) c.910A>C (p.Ile304Leu) c.877-1704A>C (n.877-1704A>C) c.2959A>C (p.Ile987Leu) c.3061-1704A>C (n.3061-1704A>C) c.2680A>C (p.Ile894Leu) c.2731-1704A>C (n.2731-1704A>C) c.1762A>C (p.Ile588Leu) n.3313A>C | |
13 | g.51944258T= | CA2091564174 | ATP7B | c.*894-1704A= (n.*894-1704A=) c.*1838A= (n.*1838A=) c.2473A= (p.Ile825=) c.3094A= (p.Ile1032=) c.2761A= (p.Ile921=) c.2842A= (p.Ile948=) c.2860A= (p.Ile954=) n.3233A= n.3457A= c.2029A= (p.Ile677=) c.1804A= (p.Ile602=) c.2899A= (p.Ile967=) n.314A= c.1022-1704A= c.*195A= (n.*195A=) n.3838A= n.2439A= c.2950A= (p.Ile984=) n.440A= c.2998A= (p.Ile1000=) c.3058A= (p.Ile1020=) c.2608A= (p.Ile870=) c.910A= (p.Ile304=) c.877-1704A= (n.877-1704A=) c.2959A= (p.Ile987=) c.3061-1704A= (n.3061-1704A=) c.2680A= (p.Ile894=) c.2731-1704A= (n.2731-1704A=) c.1762A= (p.Ile588=) n.3313A= | |
13 | g.51944259G>A | CA483894755 | ATP7B | c.*894-1705C>T (n.*894-1705C>T) c.*1837C>T (n.*1837C>T) c.2472C>T (p.Thr824=) c.3093C>T (p.Thr1031=) c.2760C>T (p.Thr920=) c.2841C>T (p.Thr947=) c.2859C>T (p.Thr953=) n.3232C>T n.3456C>T c.2028C>T (p.Thr676=) c.1803C>T (p.Thr601=) c.2898C>T (p.Thr966=) n.313C>T c.1022-1705C>T c.*194C>T (n.*194C>T) n.3837C>T n.2438C>T c.2949C>T (p.Thr983=) n.439C>T c.2997C>T (p.Thr999=) c.3057C>T (p.Thr1019=) c.2607C>T (p.Thr869=) c.909C>T (p.Thr303=) c.877-1705C>T (n.877-1705C>T) c.2958C>T (p.Thr986=) c.3061-1705C>T (n.3061-1705C>T) c.2679C>T (p.Thr893=) c.2731-1705C>T (n.2731-1705C>T) c.1761C>T (p.Thr587=) n.3312C>T | |
13 | g.51944259G>C | CA483894756 | ATP7B | c.*894-1705C>G (n.*894-1705C>G) c.*1837C>G (n.*1837C>G) c.2472C>G (p.Thr824=) c.3093C>G (p.Thr1031=) c.2760C>G (p.Thr920=) c.2841C>G (p.Thr947=) c.2859C>G (p.Thr953=) n.3232C>G n.3456C>G c.2028C>G (p.Thr676=) c.1803C>G (p.Thr601=) c.2898C>G (p.Thr966=) n.313C>G c.1022-1705C>G c.*194C>G (n.*194C>G) n.3837C>G n.2438C>G c.2949C>G (p.Thr983=) n.439C>G c.2997C>G (p.Thr999=) c.3057C>G (p.Thr1019=) c.2607C>G (p.Thr869=) c.909C>G (p.Thr303=) c.877-1705C>G (n.877-1705C>G) c.2958C>G (p.Thr986=) c.3061-1705C>G (n.3061-1705C>G) c.2679C>G (p.Thr893=) c.2731-1705C>G (n.2731-1705C>G) c.1761C>G (p.Thr587=) n.3312C>G | gnomAD v4 |
13 | g.51944259G>T | CA483894757 | ATP7B | c.*894-1705C>A (n.*894-1705C>A) c.*1837C>A (n.*1837C>A) c.2472C>A (p.Thr824=) c.3093C>A (p.Thr1031=) c.2760C>A (p.Thr920=) c.2841C>A (p.Thr947=) c.2859C>A (p.Thr953=) n.3232C>A n.3456C>A c.2028C>A (p.Thr676=) c.1803C>A (p.Thr601=) c.2898C>A (p.Thr966=) n.313C>A c.1022-1705C>A c.*194C>A (n.*194C>A) n.3837C>A n.2438C>A c.2949C>A (p.Thr983=) n.439C>A c.2997C>A (p.Thr999=) c.3057C>A (p.Thr1019=) c.2607C>A (p.Thr869=) c.909C>A (p.Thr303=) c.877-1705C>A (n.877-1705C>A) c.2958C>A (p.Thr986=) c.3061-1705C>A (n.3061-1705C>A) c.2679C>A (p.Thr893=) c.2731-1705C>A (n.2731-1705C>A) c.1761C>A (p.Thr587=) n.3312C>A | COSMIC |
13 | g.51944260G>A | CA388030514 | ATP7B | c.*894-1706C>T (n.*894-1706C>T) c.*1836C>T (n.*1836C>T) c.2471C>T (p.Thr824Ile) c.3092C>T (p.Thr1031Ile) c.2759C>T (p.Thr920Ile) c.2840C>T (p.Thr947Ile) c.2858C>T (p.Thr953Ile) n.3231C>T n.3455C>T c.2027C>T (p.Thr676Ile) c.1802C>T (p.Thr601Ile) c.2897C>T (p.Thr966Ile) n.312C>T c.1022-1706C>T c.*193C>T (n.*193C>T) n.3836C>T n.2437C>T c.2948C>T (p.Thr983Ile) n.438C>T c.2996C>T (p.Thr999Ile) c.3056C>T (p.Thr1019Ile) c.2606C>T (p.Thr869Ile) c.908C>T (p.Thr303Ile) c.877-1706C>T (n.877-1706C>T) c.2957C>T (p.Thr986Ile) c.3061-1706C>T (n.3061-1706C>T) c.2678C>T (p.Thr893Ile) c.2731-1706C>T (n.2731-1706C>T) c.1760C>T (p.Thr587Ile) n.3311C>T | |
13 | g.51944260G>C | CA388030515 | ATP7B | c.*894-1706C>G (n.*894-1706C>G) c.*1836C>G (n.*1836C>G) c.2471C>G (p.Thr824Ser) c.3092C>G (p.Thr1031Ser) c.2759C>G (p.Thr920Ser) c.2840C>G (p.Thr947Ser) c.2858C>G (p.Thr953Ser) n.3231C>G n.3455C>G c.2027C>G (p.Thr676Ser) c.1802C>G (p.Thr601Ser) c.2897C>G (p.Thr966Ser) n.312C>G c.1022-1706C>G c.*193C>G (n.*193C>G) n.3836C>G n.2437C>G c.2948C>G (p.Thr983Ser) n.438C>G c.2996C>G (p.Thr999Ser) c.3056C>G (p.Thr1019Ser) c.2606C>G (p.Thr869Ser) c.908C>G (p.Thr303Ser) c.877-1706C>G (n.877-1706C>G) c.2957C>G (p.Thr986Ser) c.3061-1706C>G (n.3061-1706C>G) c.2678C>G (p.Thr893Ser) c.2731-1706C>G (n.2731-1706C>G) c.1760C>G (p.Thr587Ser) n.3311C>G | |
13 | g.51944260G>T | CA388030518 | ATP7B | c.*894-1706C>A (n.*894-1706C>A) c.*1836C>A (n.*1836C>A) c.2471C>A (p.Thr824Asn) c.3092C>A (p.Thr1031Asn) c.2759C>A (p.Thr920Asn) c.2840C>A (p.Thr947Asn) c.2858C>A (p.Thr953Asn) n.3231C>A n.3455C>A c.2027C>A (p.Thr676Asn) c.1802C>A (p.Thr601Asn) c.2897C>A (p.Thr966Asn) n.312C>A c.1022-1706C>A c.*193C>A (n.*193C>A) n.3836C>A n.2437C>A c.2948C>A (p.Thr983Asn) n.438C>A c.2996C>A (p.Thr999Asn) c.3056C>A (p.Thr1019Asn) c.2606C>A (p.Thr869Asn) c.908C>A (p.Thr303Asn) c.877-1706C>A (n.877-1706C>A) c.2957C>A (p.Thr986Asn) c.3061-1706C>A (n.3061-1706C>A) c.2678C>A (p.Thr893Asn) c.2731-1706C>A (n.2731-1706C>A) c.1760C>A (p.Thr587Asn) n.3311C>A | |
13 | g.51944261T>A | CA388030520 | ATP7B | c.*894-1707A>T (n.*894-1707A>T) c.*1835A>T (n.*1835A>T) c.2470A>T (p.Thr824Ser) c.3091A>T (p.Thr1031Ser) c.2758A>T (p.Thr920Ser) c.2839A>T (p.Thr947Ser) c.2857A>T (p.Thr953Ser) n.3230A>T n.3454A>T c.2026A>T (p.Thr676Ser) c.1801A>T (p.Thr601Ser) c.2896A>T (p.Thr966Ser) n.311A>T c.1022-1707A>T c.*192A>T (n.*192A>T) n.3835A>T n.2436A>T c.2947A>T (p.Thr983Ser) n.437A>T c.2995A>T (p.Thr999Ser) c.3055A>T (p.Thr1019Ser) c.2605A>T (p.Thr869Ser) c.907A>T (p.Thr303Ser) c.877-1707A>T (n.877-1707A>T) c.2956A>T (p.Thr986Ser) c.3061-1707A>T (n.3061-1707A>T) c.2677A>T (p.Thr893Ser) c.2731-1707A>T (n.2731-1707A>T) c.1759A>T (p.Thr587Ser) n.3310A>T | |
13 | g.51944261T>C | CA388030527 | ATP7B | c.*894-1707A>G (n.*894-1707A>G) c.*1835A>G (n.*1835A>G) c.2470A>G (p.Thr824Ala) c.3091A>G (p.Thr1031Ala) c.2758A>G (p.Thr920Ala) c.2839A>G (p.Thr947Ala) c.2857A>G (p.Thr953Ala) n.3230A>G n.3454A>G c.2026A>G (p.Thr676Ala) c.1801A>G (p.Thr601Ala) c.2896A>G (p.Thr966Ala) n.311A>G c.1022-1707A>G c.*192A>G (n.*192A>G) n.3835A>G n.2436A>G c.2947A>G (p.Thr983Ala) n.437A>G c.2995A>G (p.Thr999Ala) c.3055A>G (p.Thr1019Ala) c.2605A>G (p.Thr869Ala) c.907A>G (p.Thr303Ala) c.877-1707A>G (n.877-1707A>G) c.2956A>G (p.Thr986Ala) c.3061-1707A>G (n.3061-1707A>G) c.2677A>G (p.Thr893Ala) c.2731-1707A>G (n.2731-1707A>G) c.1759A>G (p.Thr587Ala) n.3310A>G | |
13 | g.51944261T>G | CA388030524 | ATP7B | c.*894-1707A>C (n.*894-1707A>C) c.*1835A>C (n.*1835A>C) c.2470A>C (p.Thr824Pro) c.3091A>C (p.Thr1031Pro) c.2758A>C (p.Thr920Pro) c.2839A>C (p.Thr947Pro) c.2857A>C (p.Thr953Pro) n.3230A>C n.3454A>C c.2026A>C (p.Thr676Pro) c.1801A>C (p.Thr601Pro) c.2896A>C (p.Thr966Pro) n.311A>C c.1022-1707A>C c.*192A>C (n.*192A>C) n.3835A>C n.2436A>C c.2947A>C (p.Thr983Pro) n.437A>C c.2995A>C (p.Thr999Pro) c.3055A>C (p.Thr1019Pro) c.2605A>C (p.Thr869Pro) c.907A>C (p.Thr303Pro) c.877-1707A>C (n.877-1707A>C) c.2956A>C (p.Thr986Pro) c.3061-1707A>C (n.3061-1707A>C) c.2677A>C (p.Thr893Pro) c.2731-1707A>C (n.2731-1707A>C) c.1759A>C (p.Thr587Pro) n.3310A>C | |
13 | g.51944262G>A | CA6988811 | ATP7B | c.*894-1708C>T (n.*894-1708C>T) c.*1834C>T (n.*1834C>T) c.2469C>T (p.Gly823=) c.3090C>T (p.Gly1030=) c.2757C>T (p.Gly919=) c.2838C>T (p.Gly946=) c.2856C>T (p.Gly952=) n.3229C>T n.3453C>T c.2025C>T (p.Gly675=) c.1800C>T (p.Gly600=) c.2895C>T (p.Gly965=) n.310C>T c.1022-1708C>T c.*191C>T (n.*191C>T) n.3834C>T n.2435C>T c.2946C>T (p.Gly982=) n.436C>T c.2994C>T (p.Gly998=) c.3054C>T (p.Gly1018=) c.2604C>T (p.Gly868=) c.906C>T (p.Gly302=) c.877-1708C>T (n.877-1708C>T) c.2955C>T (p.Gly985=) c.3061-1708C>T (n.3061-1708C>T) c.2676C>T (p.Gly892=) c.2731-1708C>T (n.2731-1708C>T) c.1758C>T (p.Gly586=) n.3309C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944262G>C | CA483894759 | ATP7B | c.*894-1708C>G (n.*894-1708C>G) c.*1834C>G (n.*1834C>G) c.2469C>G (p.Gly823=) c.3090C>G (p.Gly1030=) c.2757C>G (p.Gly919=) c.2838C>G (p.Gly946=) c.2856C>G (p.Gly952=) n.3229C>G n.3453C>G c.2025C>G (p.Gly675=) c.1800C>G (p.Gly600=) c.2895C>G (p.Gly965=) n.310C>G c.1022-1708C>G c.*191C>G (n.*191C>G) n.3834C>G n.2435C>G c.2946C>G (p.Gly982=) n.436C>G c.2994C>G (p.Gly998=) c.3054C>G (p.Gly1018=) c.2604C>G (p.Gly868=) c.906C>G (p.Gly302=) c.877-1708C>G (n.877-1708C>G) c.2955C>G (p.Gly985=) c.3061-1708C>G (n.3061-1708C>G) c.2676C>G (p.Gly892=) c.2731-1708C>G (n.2731-1708C>G) c.1758C>G (p.Gly586=) n.3309C>G | |
13 | g.51944262G= | CA2091564179 | ATP7B | c.*894-1708C= (n.*894-1708C=) c.*1834C= (n.*1834C=) c.2469C= (p.Gly823=) c.3090C= (p.Gly1030=) c.2757C= (p.Gly919=) c.2838C= (p.Gly946=) c.2856C= (p.Gly952=) n.3229C= n.3453C= c.2025C= (p.Gly675=) c.1800C= (p.Gly600=) c.2895C= (p.Gly965=) n.310C= c.1022-1708C= c.*191C= (n.*191C=) n.3834C= n.2435C= c.2946C= (p.Gly982=) n.436C= c.2994C= (p.Gly998=) c.3054C= (p.Gly1018=) c.2604C= (p.Gly868=) c.906C= (p.Gly302=) c.877-1708C= (n.877-1708C=) c.2955C= (p.Gly985=) c.3061-1708C= (n.3061-1708C=) c.2676C= (p.Gly892=) c.2731-1708C= (n.2731-1708C=) c.1758C= (p.Gly586=) n.3309C= | |
13 | g.51944262G>T | CA483894758 | ATP7B | c.*894-1708C>A (n.*894-1708C>A) c.*1834C>A (n.*1834C>A) c.2469C>A (p.Gly823=) c.3090C>A (p.Gly1030=) c.2757C>A (p.Gly919=) c.2838C>A (p.Gly946=) c.2856C>A (p.Gly952=) n.3229C>A n.3453C>A c.2025C>A (p.Gly675=) c.1800C>A (p.Gly600=) c.2895C>A (p.Gly965=) n.310C>A c.1022-1708C>A c.*191C>A (n.*191C>A) n.3834C>A n.2435C>A c.2946C>A (p.Gly982=) n.436C>A c.2994C>A (p.Gly998=) c.3054C>A (p.Gly1018=) c.2604C>A (p.Gly868=) c.906C>A (p.Gly302=) c.877-1708C>A (n.877-1708C>A) c.2955C>A (p.Gly985=) c.3061-1708C>A (n.3061-1708C>A) c.2676C>A (p.Gly892=) c.2731-1708C>A (n.2731-1708C>A) c.1758C>A (p.Gly586=) n.3309C>A | |
13 | g.51944263C>A | CA388030533 | ATP7B | c.*894-1709G>T (n.*894-1709G>T) c.*1833G>T (n.*1833G>T) c.2468G>T (p.Gly823Val) c.3089G>T (p.Gly1030Val) c.2756G>T (p.Gly919Val) c.2837G>T (p.Gly946Val) c.2855G>T (p.Gly952Val) n.3228G>T n.3452G>T c.2024G>T (p.Gly675Val) c.1799G>T (p.Gly600Val) c.2894G>T (p.Gly965Val) n.309G>T c.1022-1709G>T c.*190G>T (n.*190G>T) n.3833G>T n.2434G>T c.2945G>T (p.Gly982Val) n.435G>T c.2993G>T (p.Gly998Val) c.3053G>T (p.Gly1018Val) c.2603G>T (p.Gly868Val) c.905G>T (p.Gly302Val) c.877-1709G>T (n.877-1709G>T) c.2954G>T (p.Gly985Val) c.3061-1709G>T (n.3061-1709G>T) c.2675G>T (p.Gly892Val) c.2731-1709G>T (n.2731-1709G>T) c.1757G>T (p.Gly586Val) n.3308G>T | ClinVar |
13 | g.51944263C>G | CA388030528 | ATP7B | c.*894-1709G>C (n.*894-1709G>C) c.*1833G>C (n.*1833G>C) c.2468G>C (p.Gly823Ala) c.3089G>C (p.Gly1030Ala) c.2756G>C (p.Gly919Ala) c.2837G>C (p.Gly946Ala) c.2855G>C (p.Gly952Ala) n.3228G>C n.3452G>C c.2024G>C (p.Gly675Ala) c.1799G>C (p.Gly600Ala) c.2894G>C (p.Gly965Ala) n.309G>C c.1022-1709G>C c.*190G>C (n.*190G>C) n.3833G>C n.2434G>C c.2945G>C (p.Gly982Ala) n.435G>C c.2993G>C (p.Gly998Ala) c.3053G>C (p.Gly1018Ala) c.2603G>C (p.Gly868Ala) c.905G>C (p.Gly302Ala) c.877-1709G>C (n.877-1709G>C) c.2954G>C (p.Gly985Ala) c.3061-1709G>C (n.3061-1709G>C) c.2675G>C (p.Gly892Ala) c.2731-1709G>C (n.2731-1709G>C) c.1757G>C (p.Gly586Ala) n.3308G>C | |
13 | g.51944263C>T | CA388030529 | ATP7B | c.*894-1709G>A (n.*894-1709G>A) c.*1833G>A (n.*1833G>A) c.2468G>A (p.Gly823Asp) c.3089G>A (p.Gly1030Asp) c.2756G>A (p.Gly919Asp) c.2837G>A (p.Gly946Asp) c.2855G>A (p.Gly952Asp) n.3228G>A n.3452G>A c.2024G>A (p.Gly675Asp) c.1799G>A (p.Gly600Asp) c.2894G>A (p.Gly965Asp) n.309G>A c.1022-1709G>A c.*190G>A (n.*190G>A) n.3833G>A n.2434G>A c.2945G>A (p.Gly982Asp) n.435G>A c.2993G>A (p.Gly998Asp) c.3053G>A (p.Gly1018Asp) c.2603G>A (p.Gly868Asp) c.905G>A (p.Gly302Asp) c.877-1709G>A (n.877-1709G>A) c.2954G>A (p.Gly985Asp) c.3061-1709G>A (n.3061-1709G>A) c.2675G>A (p.Gly892Asp) c.2731-1709G>A (n.2731-1709G>A) c.1757G>A (p.Gly586Asp) n.3308G>A | ClinVar dbSNP |
13 | g.51944264C>A | CA388030543 | ATP7B | c.*894-1710G>T (n.*894-1710G>T) c.*1832G>T (n.*1832G>T) c.2467G>T (p.Gly823Cys) c.3088G>T (p.Gly1030Cys) c.2755G>T (p.Gly919Cys) c.2836G>T (p.Gly946Cys) c.2854G>T (p.Gly952Cys) n.3227G>T n.3451G>T c.2023G>T (p.Gly675Cys) c.1798G>T (p.Gly600Cys) c.2893G>T (p.Gly965Cys) n.308G>T c.1022-1710G>T c.*189G>T (n.*189G>T) n.3832G>T n.2433G>T c.2944G>T (p.Gly982Cys) n.434G>T c.2992G>T (p.Gly998Cys) c.3052G>T (p.Gly1018Cys) c.2602G>T (p.Gly868Cys) c.904G>T (p.Gly302Cys) c.877-1710G>T (n.877-1710G>T) c.2953G>T (p.Gly985Cys) c.3061-1710G>T (n.3061-1710G>T) c.2674G>T (p.Gly892Cys) c.2731-1710G>T (n.2731-1710G>T) c.1756G>T (p.Gly586Cys) n.3307G>T | |
13 | g.51944264C= | CA2091564186 | ATP7B | c.*894-1710G= (n.*894-1710G=) c.*1832G= (n.*1832G=) c.2467G= (p.Gly823=) c.3088G= (p.Gly1030=) c.2755G= (p.Gly919=) c.2836G= (p.Gly946=) c.2854G= (p.Gly952=) n.3227G= n.3451G= c.2023G= (p.Gly675=) c.1798G= (p.Gly600=) c.2893G= (p.Gly965=) n.308G= c.1022-1710G= c.*189G= (n.*189G=) n.3832G= n.2433G= c.2944G= (p.Gly982=) n.434G= c.2992G= (p.Gly998=) c.3052G= (p.Gly1018=) c.2602G= (p.Gly868=) c.904G= (p.Gly302=) c.877-1710G= (n.877-1710G=) c.2953G= (p.Gly985=) c.3061-1710G= (n.3061-1710G=) c.2674G= (p.Gly892=) c.2731-1710G= (n.2731-1710G=) c.1756G= (p.Gly586=) n.3307G= | |
13 | g.51944264C>G | CA388030547 | ATP7B | c.*894-1710G>C (n.*894-1710G>C) c.*1832G>C (n.*1832G>C) c.2467G>C (p.Gly823Arg) c.3088G>C (p.Gly1030Arg) c.2755G>C (p.Gly919Arg) c.2836G>C (p.Gly946Arg) c.2854G>C (p.Gly952Arg) n.3227G>C n.3451G>C c.2023G>C (p.Gly675Arg) c.1798G>C (p.Gly600Arg) c.2893G>C (p.Gly965Arg) n.308G>C c.1022-1710G>C c.*189G>C (n.*189G>C) n.3832G>C n.2433G>C c.2944G>C (p.Gly982Arg) n.434G>C c.2992G>C (p.Gly998Arg) c.3052G>C (p.Gly1018Arg) c.2602G>C (p.Gly868Arg) c.904G>C (p.Gly302Arg) c.877-1710G>C (n.877-1710G>C) c.2953G>C (p.Gly985Arg) c.3061-1710G>C (n.3061-1710G>C) c.2674G>C (p.Gly892Arg) c.2731-1710G>C (n.2731-1710G>C) c.1756G>C (p.Gly586Arg) n.3307G>C | |
13 | g.51944264C>T | CA388030552 | ATP7B | c.*894-1710G>A (n.*894-1710G>A) c.*1832G>A (n.*1832G>A) c.2467G>A (p.Gly823Ser) c.3088G>A (p.Gly1030Ser) c.2755G>A (p.Gly919Ser) c.2836G>A (p.Gly946Ser) c.2854G>A (p.Gly952Ser) n.3227G>A n.3451G>A c.2023G>A (p.Gly675Ser) c.1798G>A (p.Gly600Ser) c.2893G>A (p.Gly965Ser) n.308G>A c.1022-1710G>A c.*189G>A (n.*189G>A) n.3832G>A n.2433G>A c.2944G>A (p.Gly982Ser) n.434G>A c.2992G>A (p.Gly998Ser) c.3052G>A (p.Gly1018Ser) c.2602G>A (p.Gly868Ser) c.904G>A (p.Gly302Ser) c.877-1710G>A (n.877-1710G>A) c.2953G>A (p.Gly985Ser) c.3061-1710G>A (n.3061-1710G>A) c.2674G>A (p.Gly892Ser) c.2731-1710G>A (n.2731-1710G>A) c.1756G>A (p.Gly586Ser) n.3307G>A | ClinVar dbSNP gnomAD v4 |
13 | g.51944265del | CA2695218753 | ATP7B | c.*894-1711del (n.*894-1711del) c.*1831del (n.*1831del) c.2466del (p.Gly823AlafsTer?) c.3087del (p.Gly1030AlafsTer?) c.2754del (p.Gly919AlafsTer?) c.2835del (p.Gly946AlafsTer?) c.2853del (p.Gly952AlafsTer?) n.3226del n.3450del c.2022del (p.Gly675AlafsTer?) c.1797del (p.Gly600AlafsTer?) c.2892del (p.Gly965AlafsTer?) n.307del c.1022-1711del c.*188del (n.*188del) n.3831del n.2432del c.2943del (p.Gly982AlafsTer?) n.433del c.2991del (p.Gly998AlafsTer?) c.3051del (p.Gly1018AlafsTer?) c.2601del (p.Gly868AlafsTer?) c.903del (p.Gly302AlafsTer?) c.877-1711del (n.877-1711del) c.2952del (p.Gly985AlafsTer?) c.3061-1711del (n.3061-1711del) c.2673del (p.Gly892AlafsTer?) c.2731-1711del (n.2731-1711del) c.1755del (p.Gly586AlafsTer?) n.3306del | |
13 | g.51944265A>C | CA483894760 | ATP7B | c.*894-1711T>G (n.*894-1711T>G) c.*1831T>G (n.*1831T>G) c.2466T>G (p.Thr822=) c.3087T>G (p.Thr1029=) c.2754T>G (p.Thr918=) c.2835T>G (p.Thr945=) c.2853T>G (p.Thr951=) n.3226T>G n.3450T>G c.2022T>G (p.Thr674=) c.1797T>G (p.Thr599=) c.2892T>G (p.Thr964=) n.307T>G c.1022-1711T>G c.*188T>G (n.*188T>G) n.3831T>G n.2432T>G c.2943T>G (p.Thr981=) n.433T>G c.2991T>G (p.Thr997=) c.3051T>G (p.Thr1017=) c.2601T>G (p.Thr867=) c.903T>G (p.Thr301=) c.877-1711T>G (n.877-1711T>G) c.2952T>G (p.Thr984=) c.3061-1711T>G (n.3061-1711T>G) c.2673T>G (p.Thr891=) c.2731-1711T>G (n.2731-1711T>G) c.1755T>G (p.Thr585=) n.3306T>G | |
13 | g.51944265A>G | CA483894761 | ATP7B | c.*894-1711T>C (n.*894-1711T>C) c.*1831T>C (n.*1831T>C) c.2466T>C (p.Thr822=) c.3087T>C (p.Thr1029=) c.2754T>C (p.Thr918=) c.2835T>C (p.Thr945=) c.2853T>C (p.Thr951=) n.3226T>C n.3450T>C c.2022T>C (p.Thr674=) c.1797T>C (p.Thr599=) c.2892T>C (p.Thr964=) n.307T>C c.1022-1711T>C c.*188T>C (n.*188T>C) n.3831T>C n.2432T>C c.2943T>C (p.Thr981=) n.433T>C c.2991T>C (p.Thr997=) c.3051T>C (p.Thr1017=) c.2601T>C (p.Thr867=) c.903T>C (p.Thr301=) c.877-1711T>C (n.877-1711T>C) c.2952T>C (p.Thr984=) c.3061-1711T>C (n.3061-1711T>C) c.2673T>C (p.Thr891=) c.2731-1711T>C (n.2731-1711T>C) c.1755T>C (p.Thr585=) n.3306T>C | |
13 | g.51944265A>T | CA483894762 | ATP7B | c.*894-1711T>A (n.*894-1711T>A) c.*1831T>A (n.*1831T>A) c.2466T>A (p.Thr822=) c.3087T>A (p.Thr1029=) c.2754T>A (p.Thr918=) c.2835T>A (p.Thr945=) c.2853T>A (p.Thr951=) n.3226T>A n.3450T>A c.2022T>A (p.Thr674=) c.1797T>A (p.Thr599=) c.2892T>A (p.Thr964=) n.307T>A c.1022-1711T>A c.*188T>A (n.*188T>A) n.3831T>A n.2432T>A c.2943T>A (p.Thr981=) n.433T>A c.2991T>A (p.Thr997=) c.3051T>A (p.Thr1017=) c.2601T>A (p.Thr867=) c.903T>A (p.Thr301=) c.877-1711T>A (n.877-1711T>A) c.2952T>A (p.Thr984=) c.3061-1711T>A (n.3061-1711T>A) c.2673T>A (p.Thr891=) c.2731-1711T>A (n.2731-1711T>A) c.1755T>A (p.Thr585=) n.3306T>A | |
13 | g.51944265dup | CA2695218752 | ATP7B | c.*894-1711dup (n.*894-1711dup) c.*1831dup (n.*1831dup) c.2466dup (p.Gly823TrpfsTer?) c.3087dup (p.Gly1030TrpfsTer?) c.2754dup (p.Gly919TrpfsTer?) c.2835dup (p.Gly946TrpfsTer?) c.2853dup (p.Gly952TrpfsTer?) n.3226dup n.3450dup c.2022dup (p.Gly675TrpfsTer?) c.1797dup (p.Gly600TrpfsTer?) c.2892dup (p.Gly965TrpfsTer?) n.307dup c.1022-1711dup c.*188dup (n.*188dup) n.3831dup n.2432dup c.2943dup (p.Gly982TrpfsTer?) n.433dup c.2991dup (p.Gly998TrpfsTer?) c.3051dup (p.Gly1018TrpfsTer?) c.2601dup (p.Gly868TrpfsTer?) c.903dup (p.Gly302TrpfsTer?) c.877-1711dup (n.877-1711dup) c.2952dup (p.Gly985TrpfsTer?) c.3061-1711dup (n.3061-1711dup) c.2673dup (p.Gly892TrpfsTer?) c.2731-1711dup (n.2731-1711dup) c.1755dup (p.Gly586TrpfsTer?) n.3306dup | |
13 | g.51944266G>A | CA388030555 | ATP7B | c.*894-1712C>T (n.*894-1712C>T) c.*1830C>T (n.*1830C>T) c.2465C>T (p.Thr822Ile) c.3086C>T (p.Thr1029Ile) c.2753C>T (p.Thr918Ile) c.2834C>T (p.Thr945Ile) c.2852C>T (p.Thr951Ile) n.3225C>T n.3449C>T c.2021C>T (p.Thr674Ile) c.1796C>T (p.Thr599Ile) c.2891C>T (p.Thr964Ile) n.306C>T c.1022-1712C>T c.*187C>T (n.*187C>T) n.3830C>T n.2431C>T c.2942C>T (p.Thr981Ile) n.432C>T c.2990C>T (p.Thr997Ile) c.3050C>T (p.Thr1017Ile) c.2600C>T (p.Thr867Ile) c.902C>T (p.Thr301Ile) c.877-1712C>T (n.877-1712C>T) c.2951C>T (p.Thr984Ile) c.3061-1712C>T (n.3061-1712C>T) c.2672C>T (p.Thr891Ile) c.2731-1712C>T (n.2731-1712C>T) c.1754C>T (p.Thr585Ile) n.3305C>T | ClinVar dbSNP gnomAD v4 |
13 | g.51944266G>C | CA388030559 | ATP7B | c.*894-1712C>G (n.*894-1712C>G) c.*1830C>G (n.*1830C>G) c.2465C>G (p.Thr822Ser) c.3086C>G (p.Thr1029Ser) c.2753C>G (p.Thr918Ser) c.2834C>G (p.Thr945Ser) c.2852C>G (p.Thr951Ser) n.3225C>G n.3449C>G c.2021C>G (p.Thr674Ser) c.1796C>G (p.Thr599Ser) c.2891C>G (p.Thr964Ser) n.306C>G c.1022-1712C>G c.*187C>G (n.*187C>G) n.3830C>G n.2431C>G c.2942C>G (p.Thr981Ser) n.432C>G c.2990C>G (p.Thr997Ser) c.3050C>G (p.Thr1017Ser) c.2600C>G (p.Thr867Ser) c.902C>G (p.Thr301Ser) c.877-1712C>G (n.877-1712C>G) c.2951C>G (p.Thr984Ser) c.3061-1712C>G (n.3061-1712C>G) c.2672C>G (p.Thr891Ser) c.2731-1712C>G (n.2731-1712C>G) c.1754C>G (p.Thr585Ser) n.3305C>G | |
13 | g.51944266G= | CA2091564198 | ATP7B | c.*894-1712C= (n.*894-1712C=) c.*1830C= (n.*1830C=) c.2465C= (p.Thr822=) c.3086C= (p.Thr1029=) c.2753C= (p.Thr918=) c.2834C= (p.Thr945=) c.2852C= (p.Thr951=) n.3225C= n.3449C= c.2021C= (p.Thr674=) c.1796C= (p.Thr599=) c.2891C= (p.Thr964=) n.306C= c.1022-1712C= c.*187C= (n.*187C=) n.3830C= n.2431C= c.2942C= (p.Thr981=) n.432C= c.2990C= (p.Thr997=) c.3050C= (p.Thr1017=) c.2600C= (p.Thr867=) c.902C= (p.Thr301=) c.877-1712C= (n.877-1712C=) c.2951C= (p.Thr984=) c.3061-1712C= (n.3061-1712C=) c.2672C= (p.Thr891=) c.2731-1712C= (n.2731-1712C=) c.1754C= (p.Thr585=) n.3305C= | |
13 | g.51944266G>T | CA388030581 | ATP7B | c.*894-1712C>A (n.*894-1712C>A) c.*1830C>A (n.*1830C>A) c.2465C>A (p.Thr822Asn) c.3086C>A (p.Thr1029Asn) c.2753C>A (p.Thr918Asn) c.2834C>A (p.Thr945Asn) c.2852C>A (p.Thr951Asn) n.3225C>A n.3449C>A c.2021C>A (p.Thr674Asn) c.1796C>A (p.Thr599Asn) c.2891C>A (p.Thr964Asn) n.306C>A c.1022-1712C>A c.*187C>A (n.*187C>A) n.3830C>A n.2431C>A c.2942C>A (p.Thr981Asn) n.432C>A c.2990C>A (p.Thr997Asn) c.3050C>A (p.Thr1017Asn) c.2600C>A (p.Thr867Asn) c.902C>A (p.Thr301Asn) c.877-1712C>A (n.877-1712C>A) c.2951C>A (p.Thr984Asn) c.3061-1712C>A (n.3061-1712C>A) c.2672C>A (p.Thr891Asn) c.2731-1712C>A (n.2731-1712C>A) c.1754C>A (p.Thr585Asn) n.3305C>A | |
13 | g.51944266_51944267del | CA2695218754 | ATP7B | c.*894-1713_*894-1712del (n.*894-1713_*894-1712del) c.*1829_*1830del (n.*1829_*1830del) c.2464_2465del (p.Thr822TrpfsTer?) c.3085_3086del (p.Thr1029TrpfsTer?) c.2752_2753del (p.Thr918TrpfsTer?) c.2833_2834del (p.Thr945TrpfsTer?) c.2851_2852del (p.Thr951TrpfsTer?) n.3224_3225del n.3448_3449del c.2020_2021del (p.Thr674TrpfsTer?) c.1795_1796del (p.Thr599TrpfsTer?) c.2890_2891del (p.Thr964TrpfsTer?) n.305_306del c.1022-1713_1022-1712del c.*186_*187del (n.*186_*187del) n.3829_3830del n.2430_2431del c.2941_2942del (p.Thr981TrpfsTer?) n.431_432del c.2989_2990del (p.Thr997TrpfsTer?) c.3049_3050del (p.Thr1017TrpfsTer?) c.2599_2600del (p.Thr867TrpfsTer?) c.901_902del (p.Thr301TrpfsTer?) c.877-1713_877-1712del (n.877-1713_877-1712del) c.2950_2951del (p.Thr984TrpfsTer?) c.3061-1713_3061-1712del (n.3061-1713_3061-1712del) c.2671_2672del (p.Thr891TrpfsTer?) c.2731-1713_2731-1712del (n.2731-1713_2731-1712del) c.1753_1754del (p.Thr585TrpfsTer?) n.3304_3305del | |
13 | g.51944266_51944269delinsGTCT | CA2091564197 | ATP7B | c.*894-1715_*894-1712delinsAGAC (n.*894-1715_*894-1712delinsAGAC) c.*1827_*1830delinsAGAC (n.*1827_*1830delinsAGAC) c.2462_2465delinsAGAC (p.Lys821=) c.3083_3086delinsAGAC (p.Lys1028=) c.2750_2753delinsAGAC (p.Lys917=) c.2831_2834delinsAGAC (p.Lys944=) c.2849_2852delinsAGAC (p.Lys950=) n.3222_3225delinsAGAC n.3446_3449delinsAGAC c.2018_2021delinsAGAC (p.Lys673=) c.1793_1796delinsAGAC (p.Lys598=) c.2888_2891delinsAGAC (p.Lys963=) n.303_306delinsAGAC c.1022-1715_1022-1712delinsAGAC c.*184_*187delinsAGAC (n.*184_*187delinsAGAC) n.3827_3830delinsAGAC n.2428_2431delinsAGAC c.2939_2942delinsAGAC (p.Lys980=) n.429_432delinsAGAC c.2987_2990delinsAGAC (p.Lys996=) c.3047_3050delinsAGAC (p.Lys1016=) c.2597_2600delinsAGAC (p.Lys866=) c.899_902delinsAGAC (p.Lys300=) c.877-1715_877-1712delinsAGAC (n.877-1715_877-1712delinsAGAC) c.2948_2951delinsAGAC (p.Lys983=) c.3061-1715_3061-1712delinsAGAC (n.3061-1715_3061-1712delinsAGAC) c.2669_2672delinsAGAC (p.Lys890=) c.2731-1715_2731-1712delinsAGAC (n.2731-1715_2731-1712delinsAGAC) c.1751_1754delinsAGAC (p.Lys584=) n.3302_3305delinsAGAC | |
13 | g.51944267del | CA2623116464 | ATP7B | c.*894-1713del (n.*894-1713del) c.*1829del (n.*1829del) c.2464del (p.Thr822LeufsTer?) c.3085del (p.Thr1029LeufsTer?) c.2752del (p.Thr918LeufsTer?) c.2833del (p.Thr945LeufsTer?) c.2851del (p.Thr951LeufsTer?) n.3224del n.3448del c.2020del (p.Thr674LeufsTer?) c.1795del (p.Thr599LeufsTer?) c.2890del (p.Thr964LeufsTer?) n.305del c.1022-1713del c.*186del (n.*186del) n.3829del n.2430del c.2941del (p.Thr981LeufsTer?) n.431del c.2989del (p.Thr997LeufsTer?) c.3049del (p.Thr1017LeufsTer?) c.2599del (p.Thr867LeufsTer?) c.901del (p.Thr301LeufsTer?) c.877-1713del (n.877-1713del) c.2950del (p.Thr984LeufsTer?) c.3061-1713del (n.3061-1713del) c.2671del (p.Thr891LeufsTer?) c.2731-1713del (n.2731-1713del) c.1753del (p.Thr585LeufsTer?) n.3304del | gnomAD v4 |
13 | g.51944267T>A | CA388030587 | ATP7B | c.*894-1713A>T (n.*894-1713A>T) c.*1829A>T (n.*1829A>T) c.2464A>T (p.Thr822Ser) c.3085A>T (p.Thr1029Ser) c.2752A>T (p.Thr918Ser) c.2833A>T (p.Thr945Ser) c.2851A>T (p.Thr951Ser) n.3224A>T n.3448A>T c.2020A>T (p.Thr674Ser) c.1795A>T (p.Thr599Ser) c.2890A>T (p.Thr964Ser) n.305A>T c.1022-1713A>T c.*186A>T (n.*186A>T) n.3829A>T n.2430A>T c.2941A>T (p.Thr981Ser) n.431A>T c.2989A>T (p.Thr997Ser) c.3049A>T (p.Thr1017Ser) c.2599A>T (p.Thr867Ser) c.901A>T (p.Thr301Ser) c.877-1713A>T (n.877-1713A>T) c.2950A>T (p.Thr984Ser) c.3061-1713A>T (n.3061-1713A>T) c.2671A>T (p.Thr891Ser) c.2731-1713A>T (n.2731-1713A>T) c.1753A>T (p.Thr585Ser) n.3304A>T | |
13 | g.51944267T>C | CA388030592 | ATP7B | c.*894-1713A>G (n.*894-1713A>G) c.*1829A>G (n.*1829A>G) c.2464A>G (p.Thr822Ala) c.3085A>G (p.Thr1029Ala) c.2752A>G (p.Thr918Ala) c.2833A>G (p.Thr945Ala) c.2851A>G (p.Thr951Ala) n.3224A>G n.3448A>G c.2020A>G (p.Thr674Ala) c.1795A>G (p.Thr599Ala) c.2890A>G (p.Thr964Ala) n.305A>G c.1022-1713A>G c.*186A>G (n.*186A>G) n.3829A>G n.2430A>G c.2941A>G (p.Thr981Ala) n.431A>G c.2989A>G (p.Thr997Ala) c.3049A>G (p.Thr1017Ala) c.2599A>G (p.Thr867Ala) c.901A>G (p.Thr301Ala) c.877-1713A>G (n.877-1713A>G) c.2950A>G (p.Thr984Ala) c.3061-1713A>G (n.3061-1713A>G) c.2671A>G (p.Thr891Ala) c.2731-1713A>G (n.2731-1713A>G) c.1753A>G (p.Thr585Ala) n.3304A>G | |
13 | g.51944267T>G | CA388030595 | ATP7B | c.*894-1713A>C (n.*894-1713A>C) c.*1829A>C (n.*1829A>C) c.2464A>C (p.Thr822Pro) c.3085A>C (p.Thr1029Pro) c.2752A>C (p.Thr918Pro) c.2833A>C (p.Thr945Pro) c.2851A>C (p.Thr951Pro) n.3224A>C n.3448A>C c.2020A>C (p.Thr674Pro) c.1795A>C (p.Thr599Pro) c.2890A>C (p.Thr964Pro) n.305A>C c.1022-1713A>C c.*186A>C (n.*186A>C) n.3829A>C n.2430A>C c.2941A>C (p.Thr981Pro) n.431A>C c.2989A>C (p.Thr997Pro) c.3049A>C (p.Thr1017Pro) c.2599A>C (p.Thr867Pro) c.901A>C (p.Thr301Pro) c.877-1713A>C (n.877-1713A>C) c.2950A>C (p.Thr984Pro) c.3061-1713A>C (n.3061-1713A>C) c.2671A>C (p.Thr891Pro) c.2731-1713A>C (n.2731-1713A>C) c.1753A>C (p.Thr585Pro) n.3304A>C | |
13 | g.51944267_51944269delinsC | CA913190609 | ATP7B | c.*894-1715_*894-1713delinsG (n.*894-1715_*894-1713delinsG) c.*1827_*1829delinsG (n.*1827_*1829delinsG) c.2462_2464delinsG (p.Lys821SerfsTer?) c.3083_3085delinsG (p.Lys1028SerfsTer?) c.2750_2752delinsG (p.Lys917SerfsTer?) c.2831_2833delinsG (p.Lys944SerfsTer?) c.2849_2851delinsG (p.Lys950SerfsTer?) n.3222_3224delinsG n.3446_3448delinsG c.2018_2020delinsG (p.Lys673SerfsTer?) c.1793_1795delinsG (p.Lys598SerfsTer?) c.2888_2890delinsG (p.Lys963SerfsTer?) n.303_305delinsG c.1022-1715_1022-1713delinsG c.*184_*186delinsG (n.*184_*186delinsG) n.3827_3829delinsG n.2428_2430delinsG c.2939_2941delinsG (p.Lys980SerfsTer?) n.429_431delinsG c.2987_2989delinsG (p.Lys996SerfsTer?) c.3047_3049delinsG (p.Lys1016SerfsTer?) c.2597_2599delinsG (p.Lys866SerfsTer?) c.899_901delinsG (p.Lys300SerfsTer?) c.877-1715_877-1713delinsG (n.877-1715_877-1713delinsG) c.2948_2950delinsG (p.Lys983SerfsTer?) c.3061-1715_3061-1713delinsG (n.3061-1715_3061-1713delinsG) c.2669_2671delinsG (p.Lys890SerfsTer?) c.2731-1715_2731-1713delinsG (n.2731-1715_2731-1713delinsG) c.1751_1753delinsG (p.Lys584SerfsTer?) n.3302_3304delinsG | ClinVar dbSNP |
13 | g.51944267_51944269delinsG | CA2499222492 | ATP7B | c.*894-1715_*894-1713delinsC (n.*894-1715_*894-1713delinsC) c.*1827_*1829delinsC (n.*1827_*1829delinsC) c.2462_2464delinsC (p.Lys821ThrfsTer?) c.3083_3085delinsC (p.Lys1028ThrfsTer?) c.2750_2752delinsC (p.Lys917ThrfsTer?) c.2831_2833delinsC (p.Lys944ThrfsTer?) c.2849_2851delinsC (p.Lys950ThrfsTer?) n.3222_3224delinsC n.3446_3448delinsC c.2018_2020delinsC (p.Lys673ThrfsTer?) c.1793_1795delinsC (p.Lys598ThrfsTer?) c.2888_2890delinsC (p.Lys963ThrfsTer?) n.303_305delinsC c.1022-1715_1022-1713delinsC c.*184_*186delinsC (n.*184_*186delinsC) n.3827_3829delinsC n.2428_2430delinsC c.2939_2941delinsC (p.Lys980ThrfsTer?) n.429_431delinsC c.2987_2989delinsC (p.Lys996ThrfsTer?) c.3047_3049delinsC (p.Lys1016ThrfsTer?) c.2597_2599delinsC (p.Lys866ThrfsTer?) c.899_901delinsC (p.Lys300ThrfsTer?) c.877-1715_877-1713delinsC (n.877-1715_877-1713delinsC) c.2948_2950delinsC (p.Lys983ThrfsTer?) c.3061-1715_3061-1713delinsC (n.3061-1715_3061-1713delinsC) c.2669_2671delinsC (p.Lys890ThrfsTer?) c.2731-1715_2731-1713delinsC (n.2731-1715_2731-1713delinsC) c.1751_1753delinsC (p.Lys584ThrfsTer?) n.3302_3304delinsC | ClinVar dbSNP |
13 | g.51944268_51944269del | CA698885556 | ATP7B | c.*894-1714_*894-1713del (n.*894-1714_*894-1713del) c.*1828_*1829del (n.*1828_*1829del) c.2463_2464del (p.Lys821AsnfsTer?) c.3084_3085del (p.Lys1028AsnfsTer?) c.2751_2752del (p.Lys917AsnfsTer?) c.2832_2833del (p.Lys944AsnfsTer?) c.2850_2851del (p.Lys950AsnfsTer?) n.3223_3224del n.3447_3448del c.2019_2020del (p.Lys673AsnfsTer?) c.1794_1795del (p.Lys598AsnfsTer?) c.2889_2890del (p.Lys963AsnfsTer?) n.304_305del c.1022-1714_1022-1713del c.*185_*186del (n.*185_*186del) n.3828_3829del n.2429_2430del c.2940_2941del (p.Lys980AsnfsTer?) n.430_431del c.2988_2989del (p.Lys996AsnfsTer?) c.3048_3049del (p.Lys1016AsnfsTer?) c.2598_2599del (p.Lys866AsnfsTer?) c.900_901del (p.Lys300AsnfsTer?) c.877-1714_877-1713del (n.877-1714_877-1713del) c.2949_2950del (p.Lys983AsnfsTer?) c.3061-1714_3061-1713del (n.3061-1714_3061-1713del) c.2670_2671del (p.Lys890AsnfsTer?) c.2731-1714_2731-1713del (n.2731-1714_2731-1713del) c.1752_1753del (p.Lys584AsnfsTer?) n.3303_3304del | dbSNP |
13 | g.51944267_51944270delinsCG | CA2695218755 | ATP7B | c.*894-1716_*894-1713delinsCG (n.*894-1716_*894-1713delinsCG) c.*1826_*1829delinsCG (n.*1826_*1829delinsCG) c.2461_2464delinsCG (p.Lys821ArgfsTer?) c.3082_3085delinsCG (p.Lys1028ArgfsTer?) c.2749_2752delinsCG (p.Lys917ArgfsTer?) c.2830_2833delinsCG (p.Lys944ArgfsTer?) c.2848_2851delinsCG (p.Lys950ArgfsTer?) n.3221_3224delinsCG n.3445_3448delinsCG c.2017_2020delinsCG (p.Lys673ArgfsTer?) c.1792_1795delinsCG (p.Lys598ArgfsTer?) c.2887_2890delinsCG (p.Lys963ArgfsTer?) n.302_305delinsCG c.1022-1716_1022-1713delinsCG c.*183_*186delinsCG (n.*183_*186delinsCG) n.3826_3829delinsCG n.2427_2430delinsCG c.2938_2941delinsCG (p.Lys980ArgfsTer?) n.428_431delinsCG c.2986_2989delinsCG (p.Lys996ArgfsTer?) c.3046_3049delinsCG (p.Lys1016ArgfsTer?) c.2596_2599delinsCG (p.Lys866ArgfsTer?) c.898_901delinsCG (p.Lys300ArgfsTer?) c.877-1716_877-1713delinsCG (n.877-1716_877-1713delinsCG) c.2947_2950delinsCG (p.Lys983ArgfsTer?) c.3061-1716_3061-1713delinsCG (n.3061-1716_3061-1713delinsCG) c.2668_2671delinsCG (p.Lys890ArgfsTer?) c.2731-1716_2731-1713delinsCG (n.2731-1716_2731-1713delinsCG) c.1750_1753delinsCG (p.Lys584ArgfsTer?) n.3301_3304delinsCG | |
13 | g.51944268C>A | CA388030600 | ATP7B | c.*894-1714G>T (n.*894-1714G>T) c.*1828G>T (n.*1828G>T) c.2463G>T (p.Lys821Asn) c.3084G>T (p.Lys1028Asn) c.2751G>T (p.Lys917Asn) c.2832G>T (p.Lys944Asn) c.2850G>T (p.Lys950Asn) n.3223G>T n.3447G>T c.2019G>T (p.Lys673Asn) c.1794G>T (p.Lys598Asn) c.2889G>T (p.Lys963Asn) n.304G>T c.1022-1714G>T c.*185G>T (n.*185G>T) n.3828G>T n.2429G>T c.2940G>T (p.Lys980Asn) n.430G>T c.2988G>T (p.Lys996Asn) c.3048G>T (p.Lys1016Asn) c.2598G>T (p.Lys866Asn) c.900G>T (p.Lys300Asn) c.877-1714G>T (n.877-1714G>T) c.2949G>T (p.Lys983Asn) c.3061-1714G>T (n.3061-1714G>T) c.2670G>T (p.Lys890Asn) c.2731-1714G>T (n.2731-1714G>T) c.1752G>T (p.Lys584Asn) n.3303G>T | |
13 | g.51944268C>G | CA388030609 | ATP7B | c.*894-1714G>C (n.*894-1714G>C) c.*1828G>C (n.*1828G>C) c.2463G>C (p.Lys821Asn) c.3084G>C (p.Lys1028Asn) c.2751G>C (p.Lys917Asn) c.2832G>C (p.Lys944Asn) c.2850G>C (p.Lys950Asn) n.3223G>C n.3447G>C c.2019G>C (p.Lys673Asn) c.1794G>C (p.Lys598Asn) c.2889G>C (p.Lys963Asn) n.304G>C c.1022-1714G>C c.*185G>C (n.*185G>C) n.3828G>C n.2429G>C c.2940G>C (p.Lys980Asn) n.430G>C c.2988G>C (p.Lys996Asn) c.3048G>C (p.Lys1016Asn) c.2598G>C (p.Lys866Asn) c.900G>C (p.Lys300Asn) c.877-1714G>C (n.877-1714G>C) c.2949G>C (p.Lys983Asn) c.3061-1714G>C (n.3061-1714G>C) c.2670G>C (p.Lys890Asn) c.2731-1714G>C (n.2731-1714G>C) c.1752G>C (p.Lys584Asn) n.3303G>C | |
13 | g.51944268C>T | CA483894763 | ATP7B | c.*894-1714G>A (n.*894-1714G>A) c.*1828G>A (n.*1828G>A) c.2463G>A (p.Lys821=) c.3084G>A (p.Lys1028=) c.2751G>A (p.Lys917=) c.2832G>A (p.Lys944=) c.2850G>A (p.Lys950=) n.3223G>A n.3447G>A c.2019G>A (p.Lys673=) c.1794G>A (p.Lys598=) c.2889G>A (p.Lys963=) n.304G>A c.1022-1714G>A c.*185G>A (n.*185G>A) n.3828G>A n.2429G>A c.2940G>A (p.Lys980=) n.430G>A c.2988G>A (p.Lys996=) c.3048G>A (p.Lys1016=) c.2598G>A (p.Lys866=) c.900G>A (p.Lys300=) c.877-1714G>A (n.877-1714G>A) c.2949G>A (p.Lys983=) c.3061-1714G>A (n.3061-1714G>A) c.2670G>A (p.Lys890=) c.2731-1714G>A (n.2731-1714G>A) c.1752G>A (p.Lys584=) n.3303G>A | |
13 | g.51944269T>A | CA388030615 | ATP7B | c.*894-1715A>T (n.*894-1715A>T) c.*1827A>T (n.*1827A>T) c.2462A>T (p.Lys821Met) c.3083A>T (p.Lys1028Met) c.2750A>T (p.Lys917Met) c.2831A>T (p.Lys944Met) c.2849A>T (p.Lys950Met) n.3222A>T n.3446A>T c.2018A>T (p.Lys673Met) c.1793A>T (p.Lys598Met) c.2888A>T (p.Lys963Met) n.303A>T c.1022-1715A>T c.*184A>T (n.*184A>T) n.3827A>T n.2428A>T c.2939A>T (p.Lys980Met) n.429A>T c.2987A>T (p.Lys996Met) c.3047A>T (p.Lys1016Met) c.2597A>T (p.Lys866Met) c.899A>T (p.Lys300Met) c.877-1715A>T (n.877-1715A>T) c.2948A>T (p.Lys983Met) c.3061-1715A>T (n.3061-1715A>T) c.2669A>T (p.Lys890Met) c.2731-1715A>T (n.2731-1715A>T) c.1751A>T (p.Lys584Met) n.3302A>T | |
13 | g.51944269T>C | CA388030617 | ATP7B | c.*894-1715A>G (n.*894-1715A>G) c.*1827A>G (n.*1827A>G) c.2462A>G (p.Lys821Arg) c.3083A>G (p.Lys1028Arg) c.2750A>G (p.Lys917Arg) c.2831A>G (p.Lys944Arg) c.2849A>G (p.Lys950Arg) n.3222A>G n.3446A>G c.2018A>G (p.Lys673Arg) c.1793A>G (p.Lys598Arg) c.2888A>G (p.Lys963Arg) n.303A>G c.1022-1715A>G c.*184A>G (n.*184A>G) n.3827A>G n.2428A>G c.2939A>G (p.Lys980Arg) n.429A>G c.2987A>G (p.Lys996Arg) c.3047A>G (p.Lys1016Arg) c.2597A>G (p.Lys866Arg) c.899A>G (p.Lys300Arg) c.877-1715A>G (n.877-1715A>G) c.2948A>G (p.Lys983Arg) c.3061-1715A>G (n.3061-1715A>G) c.2669A>G (p.Lys890Arg) c.2731-1715A>G (n.2731-1715A>G) c.1751A>G (p.Lys584Arg) n.3302A>G | dbSNP |
13 | g.51944269T>G | CA388030616 | ATP7B | c.*894-1715A>C (n.*894-1715A>C) c.*1827A>C (n.*1827A>C) c.2462A>C (p.Lys821Thr) c.3083A>C (p.Lys1028Thr) c.2750A>C (p.Lys917Thr) c.2831A>C (p.Lys944Thr) c.2849A>C (p.Lys950Thr) n.3222A>C n.3446A>C c.2018A>C (p.Lys673Thr) c.1793A>C (p.Lys598Thr) c.2888A>C (p.Lys963Thr) n.303A>C c.1022-1715A>C c.*184A>C (n.*184A>C) n.3827A>C n.2428A>C c.2939A>C (p.Lys980Thr) n.429A>C c.2987A>C (p.Lys996Thr) c.3047A>C (p.Lys1016Thr) c.2597A>C (p.Lys866Thr) c.899A>C (p.Lys300Thr) c.877-1715A>C (n.877-1715A>C) c.2948A>C (p.Lys983Thr) c.3061-1715A>C (n.3061-1715A>C) c.2669A>C (p.Lys890Thr) c.2731-1715A>C (n.2731-1715A>C) c.1751A>C (p.Lys584Thr) n.3302A>C | |
13 | g.51944269T= | CA2091564212 | ATP7B | c.*894-1715A= (n.*894-1715A=) c.*1827A= (n.*1827A=) c.2462A= (p.Lys821=) c.3083A= (p.Lys1028=) c.2750A= (p.Lys917=) c.2831A= (p.Lys944=) c.2849A= (p.Lys950=) n.3222A= n.3446A= c.2018A= (p.Lys673=) c.1793A= (p.Lys598=) c.2888A= (p.Lys963=) n.303A= c.1022-1715A= c.*184A= (n.*184A=) n.3827A= n.2428A= c.2939A= (p.Lys980=) n.429A= c.2987A= (p.Lys996=) c.3047A= (p.Lys1016=) c.2597A= (p.Lys866=) c.899A= (p.Lys300=) c.877-1715A= (n.877-1715A=) c.2948A= (p.Lys983=) c.3061-1715A= (n.3061-1715A=) c.2669A= (p.Lys890=) c.2731-1715A= (n.2731-1715A=) c.1751A= (p.Lys584=) n.3302A= | |
13 | g.51944270del | CA2623116470 | ATP7B | c.*894-1715del (n.*894-1715del) c.*1827del (n.*1827del) c.2462del (p.Lys821ArgfsTer?) c.3083del (p.Lys1028ArgfsTer?) c.2750del (p.Lys917ArgfsTer?) c.2831del (p.Lys944ArgfsTer?) c.2849del (p.Lys950ArgfsTer?) n.3222del n.3446del c.2018del (p.Lys673ArgfsTer?) c.1793del (p.Lys598ArgfsTer?) c.2888del (p.Lys963ArgfsTer?) n.303del c.1022-1715del c.*184del (n.*184del) n.3827del n.2428del c.2939del (p.Lys980ArgfsTer?) n.429del c.2987del (p.Lys996ArgfsTer?) c.3047del (p.Lys1016ArgfsTer?) c.2597del (p.Lys866ArgfsTer?) c.899del (p.Lys300ArgfsTer?) c.877-1715del (n.877-1715del) c.2948del (p.Lys983ArgfsTer?) c.3061-1715del (n.3061-1715del) c.2669del (p.Lys890ArgfsTer?) c.2731-1715del (n.2731-1715del) c.1751del (p.Lys584ArgfsTer?) n.3302del | gnomAD v4 |
13 | g.51944270T>A | CA388030618 | ATP7B | c.*894-1716A>T (n.*894-1716A>T) c.*1826A>T (n.*1826A>T) c.2461A>T (p.Lys821Ter) c.3082A>T (p.Lys1028Ter) c.2749A>T (p.Lys917Ter) c.2830A>T (p.Lys944Ter) c.2848A>T (p.Lys950Ter) n.3221A>T n.3445A>T c.2017A>T (p.Lys673Ter) c.1792A>T (p.Lys598Ter) c.2887A>T (p.Lys963Ter) n.302A>T c.1022-1716A>T c.*183A>T (n.*183A>T) n.3826A>T n.2427A>T c.2938A>T (p.Lys980Ter) n.428A>T c.2986A>T (p.Lys996Ter) c.3046A>T (p.Lys1016Ter) c.2596A>T (p.Lys866Ter) c.898A>T (p.Lys300Ter) c.877-1716A>T (n.877-1716A>T) c.2947A>T (p.Lys983Ter) c.3061-1716A>T (n.3061-1716A>T) c.2668A>T (p.Lys890Ter) c.2731-1716A>T (n.2731-1716A>T) c.1750A>T (p.Lys584Ter) n.3301A>T | |
13 | g.51944270T>C | CA6988812 | ATP7B | c.*894-1716A>G (n.*894-1716A>G) c.*1826A>G (n.*1826A>G) c.2461A>G (p.Lys821Glu) c.3082A>G (p.Lys1028Glu) c.2749A>G (p.Lys917Glu) c.2830A>G (p.Lys944Glu) c.2848A>G (p.Lys950Glu) n.3221A>G n.3445A>G c.2017A>G (p.Lys673Glu) c.1792A>G (p.Lys598Glu) c.2887A>G (p.Lys963Glu) n.302A>G c.1022-1716A>G c.*183A>G (n.*183A>G) n.3826A>G n.2427A>G c.2938A>G (p.Lys980Glu) n.428A>G c.2986A>G (p.Lys996Glu) c.3046A>G (p.Lys1016Glu) c.2596A>G (p.Lys866Glu) c.898A>G (p.Lys300Glu) c.877-1716A>G (n.877-1716A>G) c.2947A>G (p.Lys983Glu) c.3061-1716A>G (n.3061-1716A>G) c.2668A>G (p.Lys890Glu) c.2731-1716A>G (n.2731-1716A>G) c.1750A>G (p.Lys584Glu) n.3301A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944270T>G | CA388030624 | ATP7B | c.*894-1716A>C (n.*894-1716A>C) c.*1826A>C (n.*1826A>C) c.2461A>C (p.Lys821Gln) c.3082A>C (p.Lys1028Gln) c.2749A>C (p.Lys917Gln) c.2830A>C (p.Lys944Gln) c.2848A>C (p.Lys950Gln) n.3221A>C n.3445A>C c.2017A>C (p.Lys673Gln) c.1792A>C (p.Lys598Gln) c.2887A>C (p.Lys963Gln) n.302A>C c.1022-1716A>C c.*183A>C (n.*183A>C) n.3826A>C n.2427A>C c.2938A>C (p.Lys980Gln) n.428A>C c.2986A>C (p.Lys996Gln) c.3046A>C (p.Lys1016Gln) c.2596A>C (p.Lys866Gln) c.898A>C (p.Lys300Gln) c.877-1716A>C (n.877-1716A>C) c.2947A>C (p.Lys983Gln) c.3061-1716A>C (n.3061-1716A>C) c.2668A>C (p.Lys890Gln) c.2731-1716A>C (n.2731-1716A>C) c.1750A>C (p.Lys584Gln) n.3301A>C | |
13 | g.51944270T= | CA2091564215 | ATP7B | c.*894-1716A= (n.*894-1716A=) c.*1826A= (n.*1826A=) c.2461A= (p.Lys821=) c.3082A= (p.Lys1028=) c.2749A= (p.Lys917=) c.2830A= (p.Lys944=) c.2848A= (p.Lys950=) n.3221A= n.3445A= c.2017A= (p.Lys673=) c.1792A= (p.Lys598=) c.2887A= (p.Lys963=) n.302A= c.1022-1716A= c.*183A= (n.*183A=) n.3826A= n.2427A= c.2938A= (p.Lys980=) n.428A= c.2986A= (p.Lys996=) c.3046A= (p.Lys1016=) c.2596A= (p.Lys866=) c.898A= (p.Lys300=) c.877-1716A= (n.877-1716A=) c.2947A= (p.Lys983=) c.3061-1716A= (n.3061-1716A=) c.2668A= (p.Lys890=) c.2731-1716A= (n.2731-1716A=) c.1750A= (p.Lys584=) n.3301A= | |
13 | g.51944270_51944840delinsTGTCAAACATCACAGTCTTTATCTGCCAAAAACAACCACAACTCACTGACCACAATACAGATGGAGGGGCTTCCATAGTCACACTCCTGAGGCAGAACTTCACCCAACCTGCCTCAGACAGGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAGGTCAGGAGTCAGGACCCTGAGGGACACCTGCCTCCCTGTCCACTGCCATCCGCCGAGCCCAACCTCAGCTTCCTTTTGCCTGCCTAAGTGCAAAAGCTACTGGGAATAGAGTCCTCACACTCTGAGTTCAAGAAAGGAAAGGACTATTCTATGGCCATAATGACAAACAAACCCCCAGAGCCAGTTTTAAGTTGGTCACACTTAGTCAATGGCAGTCTGCAGA | CA2091564217 | ATP7B | c.*893+1444_*894-1716delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA (n.*893+1444_*894-1716delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA) c.*1805-549_*1826delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA c.2440-549_2461delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA c.3061-549_3082delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA c.2728-549_2749delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA c.2809-549_2830delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA c.2827-549_2848delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA n.2651_3221delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA n.3424-549_3445delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA c.1996-549_2017delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA c.1771-549_1792delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA c.2866-549_2887delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA n.281-549_302delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA c.1021+1444_1022-1716delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA c.*162-549_*183delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA n.3805-549_3826delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA n.2406-549_2427delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA c.2917-549_2938delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA n.407-549_428delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA c.2965-549_2986delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA c.3025-549_3046delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA c.2575-549_2596delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA c.877-549_898delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA c.876+1444_877-1716delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA (n.876+1444_877-1716delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA) c.2926-549_2947delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA c.3060+1444_3061-1716delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA (n.3060+1444_3061-1716delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA) c.2647-549_2668delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA c.2731-2286_2731-1716delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA (n.2731-2286_2731-1716delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA) c.1729-549_1750delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA n.3280-549_3301delinsTCTGCAGACTGCCATTGACTAAGTGTGACCAACTTAAAACTGGCTCTGGGGGTTTGTTTGTCATTATGGCCATAGAATAGTCCTTTCCTTTCTTGAACTCAGAGTGTGAGGACTCTATTCCCAGTAGCTTTTGCACTTAGGCAGGCAAAAGGAAGCTGAGGTTGGGCTCGGCGGATGGCAGTGGACAGGGAGGCAGGTGTCCCTCAGGGTCCTGACTCCTGACCTGATGTGGGGGAGTATGTGGATGGTGTCACTGTCTGGGGGACAGTGCTGTGCCATCTCCTGTACAGCCGACTGAGGGTTTCTGGCTTTGCCTGGTCAAGGTCAAGCCTCAGTGTGGCTGGTTTGACTGGACACATAGGGAAACAGTTTCTTTGCAGTGGGAGTTGTTGAACCCTGAGATTGAACGACAGAGGATCACGTTAGGAAGCTGTGCAGGTGTCTTGTTTCCTGTCTGAGGCAGGTTGGGTGAAGTTCTGCCTCAGGAGTGTGACTATGGAAGCCCCTCCATCTGTATTGTGGTCAGTGAGTTGTGGTTGTTTTTGGCAGATAAAGACTGTGATGTTTGACA | |
13 | g.51944271G>A | CA483894764 | ATP7B | c.*894-1717C>T (n.*894-1717C>T) c.*1825C>T (n.*1825C>T) c.2460C>T (p.Asp820=) c.3081C>T (p.Asp1027=) c.2748C>T (p.Asp916=) c.2829C>T (p.Asp943=) c.2847C>T (p.Asp949=) n.3220C>T n.3444C>T c.2016C>T (p.Asp672=) c.1791C>T (p.Asp597=) c.2886C>T (p.Asp962=) n.301C>T c.1022-1717C>T c.*182C>T (n.*182C>T) n.3825C>T n.2426C>T c.2937C>T (p.Asp979=) n.427C>T c.2985C>T (p.Asp995=) c.3045C>T (p.Asp1015=) c.2595C>T (p.Asp865=) c.897C>T (p.Asp299=) c.877-1717C>T (n.877-1717C>T) c.2946C>T (p.Asp982=) c.3061-1717C>T (n.3061-1717C>T) c.2667C>T (p.Asp889=) c.2731-1717C>T (n.2731-1717C>T) c.1749C>T (p.Asp583=) n.3300C>T | |
13 | g.51944271G>C | CA388030629 | ATP7B | c.*894-1717C>G (n.*894-1717C>G) c.*1825C>G (n.*1825C>G) c.2460C>G (p.Asp820Glu) c.3081C>G (p.Asp1027Glu) c.2748C>G (p.Asp916Glu) c.2829C>G (p.Asp943Glu) c.2847C>G (p.Asp949Glu) n.3220C>G n.3444C>G c.2016C>G (p.Asp672Glu) c.1791C>G (p.Asp597Glu) c.2886C>G (p.Asp962Glu) n.301C>G c.1022-1717C>G c.*182C>G (n.*182C>G) n.3825C>G n.2426C>G c.2937C>G (p.Asp979Glu) n.427C>G c.2985C>G (p.Asp995Glu) c.3045C>G (p.Asp1015Glu) c.2595C>G (p.Asp865Glu) c.897C>G (p.Asp299Glu) c.877-1717C>G (n.877-1717C>G) c.2946C>G (p.Asp982Glu) c.3061-1717C>G (n.3061-1717C>G) c.2667C>G (p.Asp889Glu) c.2731-1717C>G (n.2731-1717C>G) c.1749C>G (p.Asp583Glu) n.3300C>G | |
13 | g.51944271G>T | CA388030635 | ATP7B | c.*894-1717C>A (n.*894-1717C>A) c.*1825C>A (n.*1825C>A) c.2460C>A (p.Asp820Glu) c.3081C>A (p.Asp1027Glu) c.2748C>A (p.Asp916Glu) c.2829C>A (p.Asp943Glu) c.2847C>A (p.Asp949Glu) n.3220C>A n.3444C>A c.2016C>A (p.Asp672Glu) c.1791C>A (p.Asp597Glu) c.2886C>A (p.Asp962Glu) n.301C>A c.1022-1717C>A c.*182C>A (n.*182C>A) n.3825C>A n.2426C>A c.2937C>A (p.Asp979Glu) n.427C>A c.2985C>A (p.Asp995Glu) c.3045C>A (p.Asp1015Glu) c.2595C>A (p.Asp865Glu) c.897C>A (p.Asp299Glu) c.877-1717C>A (n.877-1717C>A) c.2946C>A (p.Asp982Glu) c.3061-1717C>A (n.3061-1717C>A) c.2667C>A (p.Asp889Glu) c.2731-1717C>A (n.2731-1717C>A) c.1749C>A (p.Asp583Glu) n.3300C>A | |
13 | g.51944274_51944843del | CA916083356 | ATP7B | c.*893+1444_*894-1717del (n.*893+1444_*894-1717del) c.*1805-549_*1825del c.2440-549_2460del c.3061-549_3081del c.2728-549_2748del c.2809-549_2829del c.2827-549_2847del n.2651_3220del n.3424-549_3444del c.1996-549_2016del c.1771-549_1791del c.2866-549_2886del n.281-549_301del c.1021+1444_1022-1717del c.*162-549_*182del n.3805-549_3825del n.2406-549_2426del c.2917-549_2937del n.407-549_427del c.2965-549_2985del c.3025-549_3045del c.2575-549_2595del c.877-549_897del c.876+1444_877-1717del (n.876+1444_877-1717del) c.2926-549_2946del c.3060+1444_3061-1717del (n.3060+1444_3061-1717del) c.2647-549_2667del c.2731-2286_2731-1717del (n.2731-2286_2731-1717del) c.1729-549_1749del n.3280-549_3300del | ClinVar dbSNP |
13 | g.51944272T>A | CA388030648 | ATP7B | c.*894-1718A>T (n.*894-1718A>T) c.*1824A>T (n.*1824A>T) c.2459A>T (p.Asp820Val) c.3080A>T (p.Asp1027Val) c.2747A>T (p.Asp916Val) c.2828A>T (p.Asp943Val) c.2846A>T (p.Asp949Val) n.3219A>T n.3443A>T c.2015A>T (p.Asp672Val) c.1790A>T (p.Asp597Val) c.2885A>T (p.Asp962Val) n.300A>T c.1022-1718A>T c.*181A>T (n.*181A>T) n.3824A>T n.2425A>T c.2936A>T (p.Asp979Val) n.426A>T c.2984A>T (p.Asp995Val) c.3044A>T (p.Asp1015Val) c.2594A>T (p.Asp865Val) c.896A>T (p.Asp299Val) c.877-1718A>T (n.877-1718A>T) c.2945A>T (p.Asp982Val) c.3061-1718A>T (n.3061-1718A>T) c.2666A>T (p.Asp889Val) c.2731-1718A>T (n.2731-1718A>T) c.1748A>T (p.Asp583Val) n.3299A>T | |
13 | g.51944272T>C | CA388030649 | ATP7B | c.*894-1718A>G (n.*894-1718A>G) c.*1824A>G (n.*1824A>G) c.2459A>G (p.Asp820Gly) c.3080A>G (p.Asp1027Gly) c.2747A>G (p.Asp916Gly) c.2828A>G (p.Asp943Gly) c.2846A>G (p.Asp949Gly) n.3219A>G n.3443A>G c.2015A>G (p.Asp672Gly) c.1790A>G (p.Asp597Gly) c.2885A>G (p.Asp962Gly) n.300A>G c.1022-1718A>G c.*181A>G (n.*181A>G) n.3824A>G n.2425A>G c.2936A>G (p.Asp979Gly) n.426A>G c.2984A>G (p.Asp995Gly) c.3044A>G (p.Asp1015Gly) c.2594A>G (p.Asp865Gly) c.896A>G (p.Asp299Gly) c.877-1718A>G (n.877-1718A>G) c.2945A>G (p.Asp982Gly) c.3061-1718A>G (n.3061-1718A>G) c.2666A>G (p.Asp889Gly) c.2731-1718A>G (n.2731-1718A>G) c.1748A>G (p.Asp583Gly) n.3299A>G | |
13 | g.51944272T>G | CA388030651 | ATP7B | c.*894-1718A>C (n.*894-1718A>C) c.*1824A>C (n.*1824A>C) c.2459A>C (p.Asp820Ala) c.3080A>C (p.Asp1027Ala) c.2747A>C (p.Asp916Ala) c.2828A>C (p.Asp943Ala) c.2846A>C (p.Asp949Ala) n.3219A>C n.3443A>C c.2015A>C (p.Asp672Ala) c.1790A>C (p.Asp597Ala) c.2885A>C (p.Asp962Ala) n.300A>C c.1022-1718A>C c.*181A>C (n.*181A>C) n.3824A>C n.2425A>C c.2936A>C (p.Asp979Ala) n.426A>C c.2984A>C (p.Asp995Ala) c.3044A>C (p.Asp1015Ala) c.2594A>C (p.Asp865Ala) c.896A>C (p.Asp299Ala) c.877-1718A>C (n.877-1718A>C) c.2945A>C (p.Asp982Ala) c.3061-1718A>C (n.3061-1718A>C) c.2666A>C (p.Asp889Ala) c.2731-1718A>C (n.2731-1718A>C) c.1748A>C (p.Asp583Ala) n.3299A>C | |
13 | g.51944273C>A | CA388030655 | ATP7B | c.*894-1719G>T (n.*894-1719G>T) c.*1823G>T (n.*1823G>T) c.2458G>T (p.Asp820Tyr) c.3079G>T (p.Asp1027Tyr) c.2746G>T (p.Asp916Tyr) c.2827G>T (p.Asp943Tyr) c.2845G>T (p.Asp949Tyr) n.3218G>T n.3442G>T c.2014G>T (p.Asp672Tyr) c.1789G>T (p.Asp597Tyr) c.2884G>T (p.Asp962Tyr) n.299G>T c.1022-1719G>T c.*180G>T (n.*180G>T) n.3823G>T n.2424G>T c.2935G>T (p.Asp979Tyr) n.425G>T c.2983G>T (p.Asp995Tyr) c.3043G>T (p.Asp1015Tyr) c.2593G>T (p.Asp865Tyr) c.895G>T (p.Asp299Tyr) c.877-1719G>T (n.877-1719G>T) c.2944G>T (p.Asp982Tyr) c.3061-1719G>T (n.3061-1719G>T) c.2665G>T (p.Asp889Tyr) c.2731-1719G>T (n.2731-1719G>T) c.1747G>T (p.Asp583Tyr) n.3298G>T | |
13 | g.51944273C= | CA2091564229 | ATP7B | c.*894-1719G= (n.*894-1719G=) c.*1823G= (n.*1823G=) c.2458G= (p.Asp820=) c.3079G= (p.Asp1027=) c.2746G= (p.Asp916=) c.2827G= (p.Asp943=) c.2845G= (p.Asp949=) n.3218G= n.3442G= c.2014G= (p.Asp672=) c.1789G= (p.Asp597=) c.2884G= (p.Asp962=) n.299G= c.1022-1719G= c.*180G= (n.*180G=) n.3823G= n.2424G= c.2935G= (p.Asp979=) n.425G= c.2983G= (p.Asp995=) c.3043G= (p.Asp1015=) c.2593G= (p.Asp865=) c.895G= (p.Asp299=) c.877-1719G= (n.877-1719G=) c.2944G= (p.Asp982=) c.3061-1719G= (n.3061-1719G=) c.2665G= (p.Asp889=) c.2731-1719G= (n.2731-1719G=) c.1747G= (p.Asp583=) n.3298G= | |
13 | g.51944273C>G | CA388030658 | ATP7B | c.*894-1719G>C (n.*894-1719G>C) c.*1823G>C (n.*1823G>C) c.2458G>C (p.Asp820His) c.3079G>C (p.Asp1027His) c.2746G>C (p.Asp916His) c.2827G>C (p.Asp943His) c.2845G>C (p.Asp949His) n.3218G>C n.3442G>C c.2014G>C (p.Asp672His) c.1789G>C (p.Asp597His) c.2884G>C (p.Asp962His) n.299G>C c.1022-1719G>C c.*180G>C (n.*180G>C) n.3823G>C n.2424G>C c.2935G>C (p.Asp979His) n.425G>C c.2983G>C (p.Asp995His) c.3043G>C (p.Asp1015His) c.2593G>C (p.Asp865His) c.895G>C (p.Asp299His) c.877-1719G>C (n.877-1719G>C) c.2944G>C (p.Asp982His) c.3061-1719G>C (n.3061-1719G>C) c.2665G>C (p.Asp889His) c.2731-1719G>C (n.2731-1719G>C) c.1747G>C (p.Asp583His) n.3298G>C | ClinVar dbSNP gnomAD v4 COSMIC |
13 | g.51944273C>T | CA388030659 | ATP7B | c.*894-1719G>A (n.*894-1719G>A) c.*1823G>A (n.*1823G>A) c.2458G>A (p.Asp820Asn) c.3079G>A (p.Asp1027Asn) c.2746G>A (p.Asp916Asn) c.2827G>A (p.Asp943Asn) c.2845G>A (p.Asp949Asn) n.3218G>A n.3442G>A c.2014G>A (p.Asp672Asn) c.1789G>A (p.Asp597Asn) c.2884G>A (p.Asp962Asn) n.299G>A c.1022-1719G>A c.*180G>A (n.*180G>A) n.3823G>A n.2424G>A c.2935G>A (p.Asp979Asn) n.425G>A c.2983G>A (p.Asp995Asn) c.3043G>A (p.Asp1015Asn) c.2593G>A (p.Asp865Asn) c.895G>A (p.Asp299Asn) c.877-1719G>A (n.877-1719G>A) c.2944G>A (p.Asp982Asn) c.3061-1719G>A (n.3061-1719G>A) c.2665G>A (p.Asp889Asn) c.2731-1719G>A (n.2731-1719G>A) c.1747G>A (p.Asp583Asn) n.3298G>A | |
13 | g.51944274A= | CA2091564233 | ATP7B | c.*894-1720T= (n.*894-1720T=) c.*1822T= (n.*1822T=) c.2457T= (p.Phe819=) c.3078T= (p.Phe1026=) c.2745T= (p.Phe915=) c.2826T= (p.Phe942=) c.2844T= (p.Phe948=) n.3217T= n.3441T= c.2013T= (p.Phe671=) c.1788T= (p.Phe596=) c.2883T= (p.Phe961=) n.298T= c.1022-1720T= c.*179T= (n.*179T=) n.3822T= n.2423T= c.2934T= (p.Phe978=) n.424T= c.2982T= (p.Phe994=) c.3042T= (p.Phe1014=) c.2592T= (p.Phe864=) c.894T= (p.Phe298=) c.877-1720T= (n.877-1720T=) c.2943T= (p.Phe981=) c.3061-1720T= (n.3061-1720T=) c.2664T= (p.Phe888=) c.2731-1720T= (n.2731-1720T=) c.1746T= (p.Phe582=) n.3297T= | |
13 | g.51944274A>C | CA388030661 | ATP7B | c.*894-1720T>G (n.*894-1720T>G) c.*1822T>G (n.*1822T>G) c.2457T>G (p.Phe819Leu) c.3078T>G (p.Phe1026Leu) c.2745T>G (p.Phe915Leu) c.2826T>G (p.Phe942Leu) c.2844T>G (p.Phe948Leu) n.3217T>G n.3441T>G c.2013T>G (p.Phe671Leu) c.1788T>G (p.Phe596Leu) c.2883T>G (p.Phe961Leu) n.298T>G c.1022-1720T>G c.*179T>G (n.*179T>G) n.3822T>G n.2423T>G c.2934T>G (p.Phe978Leu) n.424T>G c.2982T>G (p.Phe994Leu) c.3042T>G (p.Phe1014Leu) c.2592T>G (p.Phe864Leu) c.894T>G (p.Phe298Leu) c.877-1720T>G (n.877-1720T>G) c.2943T>G (p.Phe981Leu) c.3061-1720T>G (n.3061-1720T>G) c.2664T>G (p.Phe888Leu) c.2731-1720T>G (n.2731-1720T>G) c.1746T>G (p.Phe582Leu) n.3297T>G | |
13 | g.51944274A>G | CA483894765 | ATP7B | c.*894-1720T>C (n.*894-1720T>C) c.*1822T>C (n.*1822T>C) c.2457T>C (p.Phe819=) c.3078T>C (p.Phe1026=) c.2745T>C (p.Phe915=) c.2826T>C (p.Phe942=) c.2844T>C (p.Phe948=) n.3217T>C n.3441T>C c.2013T>C (p.Phe671=) c.1788T>C (p.Phe596=) c.2883T>C (p.Phe961=) n.298T>C c.1022-1720T>C c.*179T>C (n.*179T>C) n.3822T>C n.2423T>C c.2934T>C (p.Phe978=) n.424T>C c.2982T>C (p.Phe994=) c.3042T>C (p.Phe1014=) c.2592T>C (p.Phe864=) c.894T>C (p.Phe298=) c.877-1720T>C (n.877-1720T>C) c.2943T>C (p.Phe981=) c.3061-1720T>C (n.3061-1720T>C) c.2664T>C (p.Phe888=) c.2731-1720T>C (n.2731-1720T>C) c.1746T>C (p.Phe582=) n.3297T>C | dbSNP |
13 | g.51944274A>T | CA388030665 | ATP7B | c.*894-1720T>A (n.*894-1720T>A) c.*1822T>A (n.*1822T>A) c.2457T>A (p.Phe819Leu) c.3078T>A (p.Phe1026Leu) c.2745T>A (p.Phe915Leu) c.2826T>A (p.Phe942Leu) c.2844T>A (p.Phe948Leu) n.3217T>A n.3441T>A c.2013T>A (p.Phe671Leu) c.1788T>A (p.Phe596Leu) c.2883T>A (p.Phe961Leu) n.298T>A c.1022-1720T>A c.*179T>A (n.*179T>A) n.3822T>A n.2423T>A c.2934T>A (p.Phe978Leu) n.424T>A c.2982T>A (p.Phe994Leu) c.3042T>A (p.Phe1014Leu) c.2592T>A (p.Phe864Leu) c.894T>A (p.Phe298Leu) c.877-1720T>A (n.877-1720T>A) c.2943T>A (p.Phe981Leu) c.3061-1720T>A (n.3061-1720T>A) c.2664T>A (p.Phe888Leu) c.2731-1720T>A (n.2731-1720T>A) c.1746T>A (p.Phe582Leu) n.3297T>A | |
13 | g.51944275A>C | CA388030673 | ATP7B | c.*894-1721T>G (n.*894-1721T>G) c.*1821T>G (n.*1821T>G) c.2456T>G (p.Phe819Cys) c.3077T>G (p.Phe1026Cys) c.2744T>G (p.Phe915Cys) c.2825T>G (p.Phe942Cys) c.2843T>G (p.Phe948Cys) n.3216T>G n.3440T>G c.2012T>G (p.Phe671Cys) c.1787T>G (p.Phe596Cys) c.2882T>G (p.Phe961Cys) n.297T>G c.1022-1721T>G c.*178T>G (n.*178T>G) n.3821T>G n.2422T>G c.2933T>G (p.Phe978Cys) n.423T>G c.2981T>G (p.Phe994Cys) c.3041T>G (p.Phe1014Cys) c.2591T>G (p.Phe864Cys) c.893T>G (p.Phe298Cys) c.877-1721T>G (n.877-1721T>G) c.2942T>G (p.Phe981Cys) c.3061-1721T>G (n.3061-1721T>G) c.2663T>G (p.Phe888Cys) c.2731-1721T>G (n.2731-1721T>G) c.1745T>G (p.Phe582Cys) n.3296T>G | |
13 | g.51944275A>G | CA388030677 | ATP7B | c.*894-1721T>C (n.*894-1721T>C) c.*1821T>C (n.*1821T>C) c.2456T>C (p.Phe819Ser) c.3077T>C (p.Phe1026Ser) c.2744T>C (p.Phe915Ser) c.2825T>C (p.Phe942Ser) c.2843T>C (p.Phe948Ser) n.3216T>C n.3440T>C c.2012T>C (p.Phe671Ser) c.1787T>C (p.Phe596Ser) c.2882T>C (p.Phe961Ser) n.297T>C c.1022-1721T>C c.*178T>C (n.*178T>C) n.3821T>C n.2422T>C c.2933T>C (p.Phe978Ser) n.423T>C c.2981T>C (p.Phe994Ser) c.3041T>C (p.Phe1014Ser) c.2591T>C (p.Phe864Ser) c.893T>C (p.Phe298Ser) c.877-1721T>C (n.877-1721T>C) c.2942T>C (p.Phe981Ser) c.3061-1721T>C (n.3061-1721T>C) c.2663T>C (p.Phe888Ser) c.2731-1721T>C (n.2731-1721T>C) c.1745T>C (p.Phe582Ser) n.3296T>C | |
13 | g.51944275A>T | CA388030679 | ATP7B | c.*894-1721T>A (n.*894-1721T>A) c.*1821T>A (n.*1821T>A) c.2456T>A (p.Phe819Tyr) c.3077T>A (p.Phe1026Tyr) c.2744T>A (p.Phe915Tyr) c.2825T>A (p.Phe942Tyr) c.2843T>A (p.Phe948Tyr) n.3216T>A n.3440T>A c.2012T>A (p.Phe671Tyr) c.1787T>A (p.Phe596Tyr) c.2882T>A (p.Phe961Tyr) n.297T>A c.1022-1721T>A c.*178T>A (n.*178T>A) n.3821T>A n.2422T>A c.2933T>A (p.Phe978Tyr) n.423T>A c.2981T>A (p.Phe994Tyr) c.3041T>A (p.Phe1014Tyr) c.2591T>A (p.Phe864Tyr) c.893T>A (p.Phe298Tyr) c.877-1721T>A (n.877-1721T>A) c.2942T>A (p.Phe981Tyr) c.3061-1721T>A (n.3061-1721T>A) c.2663T>A (p.Phe888Tyr) c.2731-1721T>A (n.2731-1721T>A) c.1745T>A (p.Phe582Tyr) n.3296T>A | |
13 | g.51944276A= | CA2091564236 | ATP7B | c.*894-1722T= (n.*894-1722T=) c.*1820T= (n.*1820T=) c.2455T= (p.Phe819=) c.3076T= (p.Phe1026=) c.2743T= (p.Phe915=) c.2824T= (p.Phe942=) c.2842T= (p.Phe948=) n.3215T= n.3439T= c.2011T= (p.Phe671=) c.1786T= (p.Phe596=) c.2881T= (p.Phe961=) n.296T= c.1022-1722T= c.*177T= (n.*177T=) n.3820T= n.2421T= c.2932T= (p.Phe978=) n.422T= c.2980T= (p.Phe994=) c.3040T= (p.Phe1014=) c.2590T= (p.Phe864=) c.892T= (p.Phe298=) c.877-1722T= (n.877-1722T=) c.2941T= (p.Phe981=) c.3061-1722T= (n.3061-1722T=) c.2662T= (p.Phe888=) c.2731-1722T= (n.2731-1722T=) c.1744T= (p.Phe582=) n.3295T= | |
13 | g.51944276A>C | CA388030683 | ATP7B | c.*894-1722T>G (n.*894-1722T>G) c.*1820T>G (n.*1820T>G) c.2455T>G (p.Phe819Val) c.3076T>G (p.Phe1026Val) c.2743T>G (p.Phe915Val) c.2824T>G (p.Phe942Val) c.2842T>G (p.Phe948Val) n.3215T>G n.3439T>G c.2011T>G (p.Phe671Val) c.1786T>G (p.Phe596Val) c.2881T>G (p.Phe961Val) n.296T>G c.1022-1722T>G c.*177T>G (n.*177T>G) n.3820T>G n.2421T>G c.2932T>G (p.Phe978Val) n.422T>G c.2980T>G (p.Phe994Val) c.3040T>G (p.Phe1014Val) c.2590T>G (p.Phe864Val) c.892T>G (p.Phe298Val) c.877-1722T>G (n.877-1722T>G) c.2941T>G (p.Phe981Val) c.3061-1722T>G (n.3061-1722T>G) c.2662T>G (p.Phe888Val) c.2731-1722T>G (n.2731-1722T>G) c.1744T>G (p.Phe582Val) n.3295T>G | |
13 | g.51944276A>G | CA388030685 | ATP7B | c.*894-1722T>C (n.*894-1722T>C) c.*1820T>C (n.*1820T>C) c.2455T>C (p.Phe819Leu) c.3076T>C (p.Phe1026Leu) c.2743T>C (p.Phe915Leu) c.2824T>C (p.Phe942Leu) c.2842T>C (p.Phe948Leu) n.3215T>C n.3439T>C c.2011T>C (p.Phe671Leu) c.1786T>C (p.Phe596Leu) c.2881T>C (p.Phe961Leu) n.296T>C c.1022-1722T>C c.*177T>C (n.*177T>C) n.3820T>C n.2421T>C c.2932T>C (p.Phe978Leu) n.422T>C c.2980T>C (p.Phe994Leu) c.3040T>C (p.Phe1014Leu) c.2590T>C (p.Phe864Leu) c.892T>C (p.Phe298Leu) c.877-1722T>C (n.877-1722T>C) c.2941T>C (p.Phe981Leu) c.3061-1722T>C (n.3061-1722T>C) c.2662T>C (p.Phe888Leu) c.2731-1722T>C (n.2731-1722T>C) c.1744T>C (p.Phe582Leu) n.3295T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944276A>T | CA388030686 | ATP7B | c.*894-1722T>A (n.*894-1722T>A) c.*1820T>A (n.*1820T>A) c.2455T>A (p.Phe819Ile) c.3076T>A (p.Phe1026Ile) c.2743T>A (p.Phe915Ile) c.2824T>A (p.Phe942Ile) c.2842T>A (p.Phe948Ile) n.3215T>A n.3439T>A c.2011T>A (p.Phe671Ile) c.1786T>A (p.Phe596Ile) c.2881T>A (p.Phe961Ile) n.296T>A c.1022-1722T>A c.*177T>A (n.*177T>A) n.3820T>A n.2421T>A c.2932T>A (p.Phe978Ile) n.422T>A c.2980T>A (p.Phe994Ile) c.3040T>A (p.Phe1014Ile) c.2590T>A (p.Phe864Ile) c.892T>A (p.Phe298Ile) c.877-1722T>A (n.877-1722T>A) c.2941T>A (p.Phe981Ile) c.3061-1722T>A (n.3061-1722T>A) c.2662T>A (p.Phe888Ile) c.2731-1722T>A (n.2731-1722T>A) c.1744T>A (p.Phe582Ile) n.3295T>A | |
13 | g.51944276_51944277insGGCAATCGTGCGCACCTTTGCCAATGTCTCCATATAGTTAGAGCCCTTAATGAGCACACCCTTTCGCGATGCTCCACCGATGCCTCCAAAGAAAGTGAGAGGCACGGAGATAACGAGAGCACAAGGG | CA610425798 | ATP7B | c.*894-1723_*894-1722insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (n.*894-1723_*894-1722insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC) c.*1819_*1820insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (n.*1819_*1820insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC) c.2454_2455insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe819ProfsTer27) c.3075_3076insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe1026ProfsTer27) c.2742_2743insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe915ProfsTer27) c.2823_2824insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe942ProfsTer27) c.2841_2842insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe948ProfsTer27) n.3214_3215insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC n.3438_3439insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC c.2010_2011insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe671ProfsTer27) c.1785_1786insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe596ProfsTer27) c.2880_2881insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe961ProfsTer27) n.295_296insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC c.1022-1723_1022-1722insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC c.*176_*177insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (n.*176_*177insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC) n.3819_3820insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC n.2420_2421insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC c.2931_2932insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe978ProfsTer27) n.421_422insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC c.2979_2980insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe994ProfsTer27) c.3039_3040insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe1014ProfsTer27) c.2589_2590insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe864ProfsTer27) c.891_892insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe298ProfsTer27) c.877-1723_877-1722insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (n.877-1723_877-1722insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC) c.2940_2941insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe981ProfsTer27) c.3061-1723_3061-1722insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (n.3061-1723_3061-1722insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC) c.2661_2662insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe888ProfsTer27) c.2731-1723_2731-1722insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (n.2731-1723_2731-1722insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC) c.1743_1744insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC (p.Phe582ProfsTer27) n.3294_3295insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC | gnomAD v2 |
13 | g.51944277C>A | CA388030687 | ATP7B | c.*894-1723G>T (n.*894-1723G>T) c.*1819G>T (n.*1819G>T) c.2454G>T (p.Met818Ile) c.3075G>T (p.Met1025Ile) c.2742G>T (p.Met914Ile) c.2823G>T (p.Met941Ile) c.2841G>T (p.Met947Ile) n.3214G>T n.3438G>T c.2010G>T (p.Met670Ile) c.1785G>T (p.Met595Ile) c.2880G>T (p.Met960Ile) n.295G>T c.1022-1723G>T c.*176G>T (n.*176G>T) n.3819G>T n.2420G>T c.2931G>T (p.Met977Ile) n.421G>T c.2979G>T (p.Met993Ile) c.3039G>T (p.Met1013Ile) c.2589G>T (p.Met863Ile) c.891G>T (p.Met297Ile) c.877-1723G>T (n.877-1723G>T) c.2940G>T (p.Met980Ile) c.3061-1723G>T (n.3061-1723G>T) c.2661G>T (p.Met887Ile) c.2731-1723G>T (n.2731-1723G>T) c.1743G>T (p.Met581Ile) n.3294G>T | |
13 | g.51944277C>G | CA388030688 | ATP7B | c.*894-1723G>C (n.*894-1723G>C) c.*1819G>C (n.*1819G>C) c.2454G>C (p.Met818Ile) c.3075G>C (p.Met1025Ile) c.2742G>C (p.Met914Ile) c.2823G>C (p.Met941Ile) c.2841G>C (p.Met947Ile) n.3214G>C n.3438G>C c.2010G>C (p.Met670Ile) c.1785G>C (p.Met595Ile) c.2880G>C (p.Met960Ile) n.295G>C c.1022-1723G>C c.*176G>C (n.*176G>C) n.3819G>C n.2420G>C c.2931G>C (p.Met977Ile) n.421G>C c.2979G>C (p.Met993Ile) c.3039G>C (p.Met1013Ile) c.2589G>C (p.Met863Ile) c.891G>C (p.Met297Ile) c.877-1723G>C (n.877-1723G>C) c.2940G>C (p.Met980Ile) c.3061-1723G>C (n.3061-1723G>C) c.2661G>C (p.Met887Ile) c.2731-1723G>C (n.2731-1723G>C) c.1743G>C (p.Met581Ile) n.3294G>C | |
13 | g.51944277C>T | CA388030691 | ATP7B | c.*894-1723G>A (n.*894-1723G>A) c.*1819G>A (n.*1819G>A) c.2454G>A (p.Met818Ile) c.3075G>A (p.Met1025Ile) c.2742G>A (p.Met914Ile) c.2823G>A (p.Met941Ile) c.2841G>A (p.Met947Ile) n.3214G>A n.3438G>A c.2010G>A (p.Met670Ile) c.1785G>A (p.Met595Ile) c.2880G>A (p.Met960Ile) n.295G>A c.1022-1723G>A c.*176G>A (n.*176G>A) n.3819G>A n.2420G>A c.2931G>A (p.Met977Ile) n.421G>A c.2979G>A (p.Met993Ile) c.3039G>A (p.Met1013Ile) c.2589G>A (p.Met863Ile) c.891G>A (p.Met297Ile) c.877-1723G>A (n.877-1723G>A) c.2940G>A (p.Met980Ile) c.3061-1723G>A (n.3061-1723G>A) c.2661G>A (p.Met887Ile) c.2731-1723G>A (n.2731-1723G>A) c.1743G>A (p.Met581Ile) n.3294G>A | |
13 | g.51944278A= | CA2091564242 | ATP7B | c.*894-1724T= (n.*894-1724T=) c.*1818T= (n.*1818T=) c.2453T= (p.Met818=) c.3074T= (p.Met1025=) c.2741T= (p.Met914=) c.2822T= (p.Met941=) c.2840T= (p.Met947=) n.3213T= n.3437T= c.2009T= (p.Met670=) c.1784T= (p.Met595=) c.2879T= (p.Met960=) n.294T= c.1022-1724T= c.*175T= (n.*175T=) n.3818T= n.2419T= c.2930T= (p.Met977=) n.420T= c.2978T= (p.Met993=) c.3038T= (p.Met1013=) c.2588T= (p.Met863=) c.890T= (p.Met297=) c.877-1724T= (n.877-1724T=) c.2939T= (p.Met980=) c.3061-1724T= (n.3061-1724T=) c.2660T= (p.Met887=) c.2731-1724T= (n.2731-1724T=) c.1742T= (p.Met581=) n.3293T= | |
13 | g.51944278A>C | CA388030694 | ATP7B | c.*894-1724T>G (n.*894-1724T>G) c.*1818T>G (n.*1818T>G) c.2453T>G (p.Met818Arg) c.3074T>G (p.Met1025Arg) c.2741T>G (p.Met914Arg) c.2822T>G (p.Met941Arg) c.2840T>G (p.Met947Arg) n.3213T>G n.3437T>G c.2009T>G (p.Met670Arg) c.1784T>G (p.Met595Arg) c.2879T>G (p.Met960Arg) n.294T>G c.1022-1724T>G c.*175T>G (n.*175T>G) n.3818T>G n.2419T>G c.2930T>G (p.Met977Arg) n.420T>G c.2978T>G (p.Met993Arg) c.3038T>G (p.Met1013Arg) c.2588T>G (p.Met863Arg) c.890T>G (p.Met297Arg) c.877-1724T>G (n.877-1724T>G) c.2939T>G (p.Met980Arg) c.3061-1724T>G (n.3061-1724T>G) c.2660T>G (p.Met887Arg) c.2731-1724T>G (n.2731-1724T>G) c.1742T>G (p.Met581Arg) n.3293T>G | ClinVar dbSNP |
13 | g.51944278A>G | CA388030698 | ATP7B | c.*894-1724T>C (n.*894-1724T>C) c.*1818T>C (n.*1818T>C) c.2453T>C (p.Met818Thr) c.3074T>C (p.Met1025Thr) c.2741T>C (p.Met914Thr) c.2822T>C (p.Met941Thr) c.2840T>C (p.Met947Thr) n.3213T>C n.3437T>C c.2009T>C (p.Met670Thr) c.1784T>C (p.Met595Thr) c.2879T>C (p.Met960Thr) n.294T>C c.1022-1724T>C c.*175T>C (n.*175T>C) n.3818T>C n.2419T>C c.2930T>C (p.Met977Thr) n.420T>C c.2978T>C (p.Met993Thr) c.3038T>C (p.Met1013Thr) c.2588T>C (p.Met863Thr) c.890T>C (p.Met297Thr) c.877-1724T>C (n.877-1724T>C) c.2939T>C (p.Met980Thr) c.3061-1724T>C (n.3061-1724T>C) c.2660T>C (p.Met887Thr) c.2731-1724T>C (n.2731-1724T>C) c.1742T>C (p.Met581Thr) n.3293T>C | ClinVar gnomAD v4 |
13 | g.51944278A>T | CA388030705 | ATP7B | c.*894-1724T>A (n.*894-1724T>A) c.*1818T>A (n.*1818T>A) c.2453T>A (p.Met818Lys) c.3074T>A (p.Met1025Lys) c.2741T>A (p.Met914Lys) c.2822T>A (p.Met941Lys) c.2840T>A (p.Met947Lys) n.3213T>A n.3437T>A c.2009T>A (p.Met670Lys) c.1784T>A (p.Met595Lys) c.2879T>A (p.Met960Lys) n.294T>A c.1022-1724T>A c.*175T>A (n.*175T>A) n.3818T>A n.2419T>A c.2930T>A (p.Met977Lys) n.420T>A c.2978T>A (p.Met993Lys) c.3038T>A (p.Met1013Lys) c.2588T>A (p.Met863Lys) c.890T>A (p.Met297Lys) c.877-1724T>A (n.877-1724T>A) c.2939T>A (p.Met980Lys) c.3061-1724T>A (n.3061-1724T>A) c.2660T>A (p.Met887Lys) c.2731-1724T>A (n.2731-1724T>A) c.1742T>A (p.Met581Lys) n.3293T>A | ClinVar dbSNP |
13 | g.51944279T>A | CA388030730 | ATP7B | c.*894-1725A>T (n.*894-1725A>T) c.*1817A>T (n.*1817A>T) c.2452A>T (p.Met818Leu) c.3073A>T (p.Met1025Leu) c.2740A>T (p.Met914Leu) c.2821A>T (p.Met941Leu) c.2839A>T (p.Met947Leu) n.3212A>T n.3436A>T c.2008A>T (p.Met670Leu) c.1783A>T (p.Met595Leu) c.2878A>T (p.Met960Leu) n.293A>T c.1022-1725A>T c.*174A>T (n.*174A>T) n.3817A>T n.2418A>T c.2929A>T (p.Met977Leu) n.419A>T c.2977A>T (p.Met993Leu) c.3037A>T (p.Met1013Leu) c.2587A>T (p.Met863Leu) c.889A>T (p.Met297Leu) c.877-1725A>T (n.877-1725A>T) c.2938A>T (p.Met980Leu) c.3061-1725A>T (n.3061-1725A>T) c.2659A>T (p.Met887Leu) c.2731-1725A>T (n.2731-1725A>T) c.1741A>T (p.Met581Leu) n.3292A>T | |
13 | g.51944279T>C | CA388030719 | ATP7B | c.*894-1725A>G (n.*894-1725A>G) c.*1817A>G (n.*1817A>G) c.2452A>G (p.Met818Val) c.3073A>G (p.Met1025Val) c.2740A>G (p.Met914Val) c.2821A>G (p.Met941Val) c.2839A>G (p.Met947Val) n.3212A>G n.3436A>G c.2008A>G (p.Met670Val) c.1783A>G (p.Met595Val) c.2878A>G (p.Met960Val) n.293A>G c.1022-1725A>G c.*174A>G (n.*174A>G) n.3817A>G n.2418A>G c.2929A>G (p.Met977Val) n.419A>G c.2977A>G (p.Met993Val) c.3037A>G (p.Met1013Val) c.2587A>G (p.Met863Val) c.889A>G (p.Met297Val) c.877-1725A>G (n.877-1725A>G) c.2938A>G (p.Met980Val) c.3061-1725A>G (n.3061-1725A>G) c.2659A>G (p.Met887Val) c.2731-1725A>G (n.2731-1725A>G) c.1741A>G (p.Met581Val) n.3292A>G | gnomAD v4 |
13 | g.51944279T>G | CA388030712 | ATP7B | c.*894-1725A>C (n.*894-1725A>C) c.*1817A>C (n.*1817A>C) c.2452A>C (p.Met818Leu) c.3073A>C (p.Met1025Leu) c.2740A>C (p.Met914Leu) c.2821A>C (p.Met941Leu) c.2839A>C (p.Met947Leu) n.3212A>C n.3436A>C c.2008A>C (p.Met670Leu) c.1783A>C (p.Met595Leu) c.2878A>C (p.Met960Leu) n.293A>C c.1022-1725A>C c.*174A>C (n.*174A>C) n.3817A>C n.2418A>C c.2929A>C (p.Met977Leu) n.419A>C c.2977A>C (p.Met993Leu) c.3037A>C (p.Met1013Leu) c.2587A>C (p.Met863Leu) c.889A>C (p.Met297Leu) c.877-1725A>C (n.877-1725A>C) c.2938A>C (p.Met980Leu) c.3061-1725A>C (n.3061-1725A>C) c.2659A>C (p.Met887Leu) c.2731-1725A>C (n.2731-1725A>C) c.1741A>C (p.Met581Leu) n.3292A>C | |
13 | g.51944279_51944281delinsTCA | CA2091564245 | ATP7B | c.*894-1727_*894-1725delinsTGA (n.*894-1727_*894-1725delinsTGA) c.*1815_*1817delinsTGA (n.*1815_*1817delinsTGA) c.2450_2452delinsTGA (p.Val817=) c.3071_3073delinsTGA (p.Val1024=) c.2738_2740delinsTGA (p.Val913=) c.2819_2821delinsTGA (p.Val940=) c.2837_2839delinsTGA (p.Val946=) n.3210_3212delinsTGA n.3434_3436delinsTGA c.2006_2008delinsTGA (p.Val669=) c.1781_1783delinsTGA (p.Val594=) c.2876_2878delinsTGA (p.Val959=) n.291_293delinsTGA c.1022-1727_1022-1725delinsTGA c.*172_*174delinsTGA (n.*172_*174delinsTGA) n.3815_3817delinsTGA n.2416_2418delinsTGA c.2927_2929delinsTGA (p.Val976=) n.417_419delinsTGA c.2975_2977delinsTGA (p.Val992=) c.3035_3037delinsTGA (p.Val1012=) c.2585_2587delinsTGA (p.Val862=) c.887_889delinsTGA (p.Val296=) c.877-1727_877-1725delinsTGA (n.877-1727_877-1725delinsTGA) c.2936_2938delinsTGA (p.Val979=) c.3061-1727_3061-1725delinsTGA (n.3061-1727_3061-1725delinsTGA) c.2657_2659delinsTGA (p.Val886=) c.2731-1727_2731-1725delinsTGA (n.2731-1727_2731-1725delinsTGA) c.1739_1741delinsTGA (p.Val580=) n.3290_3292delinsTGA | |
13 | g.51944280C>A | CA483894766 | ATP7B | c.*894-1726G>T (n.*894-1726G>T) c.*1816G>T (n.*1816G>T) c.2451G>T (p.Val817=) c.3072G>T (p.Val1024=) c.2739G>T (p.Val913=) c.2820G>T (p.Val940=) c.2838G>T (p.Val946=) n.3211G>T n.3435G>T c.2007G>T (p.Val669=) c.1782G>T (p.Val594=) c.2877G>T (p.Val959=) n.292G>T c.1022-1726G>T c.*173G>T (n.*173G>T) n.3816G>T n.2417G>T c.2928G>T (p.Val976=) n.418G>T c.2976G>T (p.Val992=) c.3036G>T (p.Val1012=) c.2586G>T (p.Val862=) c.888G>T (p.Val296=) c.877-1726G>T (n.877-1726G>T) c.2937G>T (p.Val979=) c.3061-1726G>T (n.3061-1726G>T) c.2658G>T (p.Val886=) c.2731-1726G>T (n.2731-1726G>T) c.1740G>T (p.Val580=) n.3291G>T | |
13 | g.51944280C>G | CA483894767 | ATP7B | c.*894-1726G>C (n.*894-1726G>C) c.*1816G>C (n.*1816G>C) c.2451G>C (p.Val817=) c.3072G>C (p.Val1024=) c.2739G>C (p.Val913=) c.2820G>C (p.Val940=) c.2838G>C (p.Val946=) n.3211G>C n.3435G>C c.2007G>C (p.Val669=) c.1782G>C (p.Val594=) c.2877G>C (p.Val959=) n.292G>C c.1022-1726G>C c.*173G>C (n.*173G>C) n.3816G>C n.2417G>C c.2928G>C (p.Val976=) n.418G>C c.2976G>C (p.Val992=) c.3036G>C (p.Val1012=) c.2586G>C (p.Val862=) c.888G>C (p.Val296=) c.877-1726G>C (n.877-1726G>C) c.2937G>C (p.Val979=) c.3061-1726G>C (n.3061-1726G>C) c.2658G>C (p.Val886=) c.2731-1726G>C (n.2731-1726G>C) c.1740G>C (p.Val580=) n.3291G>C | |
13 | g.51944280C>T | CA483894768 | ATP7B | c.*894-1726G>A (n.*894-1726G>A) c.*1816G>A (n.*1816G>A) c.2451G>A (p.Val817=) c.3072G>A (p.Val1024=) c.2739G>A (p.Val913=) c.2820G>A (p.Val940=) c.2838G>A (p.Val946=) n.3211G>A n.3435G>A c.2007G>A (p.Val669=) c.1782G>A (p.Val594=) c.2877G>A (p.Val959=) n.292G>A c.1022-1726G>A c.*173G>A (n.*173G>A) n.3816G>A n.2417G>A c.2928G>A (p.Val976=) n.418G>A c.2976G>A (p.Val992=) c.3036G>A (p.Val1012=) c.2586G>A (p.Val862=) c.888G>A (p.Val296=) c.877-1726G>A (n.877-1726G>A) c.2937G>A (p.Val979=) c.3061-1726G>A (n.3061-1726G>A) c.2658G>A (p.Val886=) c.2731-1726G>A (n.2731-1726G>A) c.1740G>A (p.Val580=) n.3291G>A | |
13 | g.51944282_51944283del | CA2091564247 | ATP7B | c.*894-1727_*894-1726del (n.*894-1727_*894-1726del) c.*1815_*1816del (n.*1815_*1816del) c.2450_2451del (p.Val817AspfsTer3) c.3071_3072del (p.Val1024AspfsTer3) c.2738_2739del (p.Val913AspfsTer3) c.2819_2820del (p.Val940AspfsTer3) c.2837_2838del (p.Val946AspfsTer3) n.3210_3211del n.3434_3435del c.2006_2007del (p.Val669AspfsTer3) c.1781_1782del (p.Val594AspfsTer3) c.2876_2877del (p.Val959AspfsTer3) n.291_292del c.1022-1727_1022-1726del c.*172_*173del (n.*172_*173del) n.3815_3816del n.2416_2417del c.2927_2928del (p.Val976AspfsTer3) n.417_418del c.2975_2976del (p.Val992AspfsTer3) c.3035_3036del (p.Val1012AspfsTer3) c.2585_2586del (p.Val862AspfsTer3) c.887_888del (p.Val296AspfsTer3) c.877-1727_877-1726del (n.877-1727_877-1726del) c.2936_2937del (p.Val979AspfsTer3) c.3061-1727_3061-1726del (n.3061-1727_3061-1726del) c.2657_2658del (p.Val886AspfsTer3) c.2731-1727_2731-1726del (n.2731-1727_2731-1726del) c.1739_1740del (p.Val580AspfsTer3) n.3290_3291del | ClinVar dbSNP gnomAD v4 |
13 | g.51944281A= | CA2091564253 | ATP7B | c.*894-1727T= (n.*894-1727T=) c.*1815T= (n.*1815T=) c.2450T= (p.Val817=) c.3071T= (p.Val1024=) c.2738T= (p.Val913=) c.2819T= (p.Val940=) c.2837T= (p.Val946=) n.3210T= n.3434T= c.2006T= (p.Val669=) c.1781T= (p.Val594=) c.2876T= (p.Val959=) n.291T= c.1022-1727T= c.*172T= (n.*172T=) n.3815T= n.2416T= c.2927T= (p.Val976=) n.417T= c.2975T= (p.Val992=) c.3035T= (p.Val1012=) c.2585T= (p.Val862=) c.887T= (p.Val296=) c.877-1727T= (n.877-1727T=) c.2936T= (p.Val979=) c.3061-1727T= (n.3061-1727T=) c.2657T= (p.Val886=) c.2731-1727T= (n.2731-1727T=) c.1739T= (p.Val580=) n.3290T= | |
13 | g.51944281A>C | CA388030734 | ATP7B | c.*894-1727T>G (n.*894-1727T>G) c.*1815T>G (n.*1815T>G) c.2450T>G (p.Val817Gly) c.3071T>G (p.Val1024Gly) c.2738T>G (p.Val913Gly) c.2819T>G (p.Val940Gly) c.2837T>G (p.Val946Gly) n.3210T>G n.3434T>G c.2006T>G (p.Val669Gly) c.1781T>G (p.Val594Gly) c.2876T>G (p.Val959Gly) n.291T>G c.1022-1727T>G c.*172T>G (n.*172T>G) n.3815T>G n.2416T>G c.2927T>G (p.Val976Gly) n.417T>G c.2975T>G (p.Val992Gly) c.3035T>G (p.Val1012Gly) c.2585T>G (p.Val862Gly) c.887T>G (p.Val296Gly) c.877-1727T>G (n.877-1727T>G) c.2936T>G (p.Val979Gly) c.3061-1727T>G (n.3061-1727T>G) c.2657T>G (p.Val886Gly) c.2731-1727T>G (n.2731-1727T>G) c.1739T>G (p.Val580Gly) n.3290T>G | |
13 | g.51944281A>G | CA388030735 | ATP7B | c.*894-1727T>C (n.*894-1727T>C) c.*1815T>C (n.*1815T>C) c.2450T>C (p.Val817Ala) c.3071T>C (p.Val1024Ala) c.2738T>C (p.Val913Ala) c.2819T>C (p.Val940Ala) c.2837T>C (p.Val946Ala) n.3210T>C n.3434T>C c.2006T>C (p.Val669Ala) c.1781T>C (p.Val594Ala) c.2876T>C (p.Val959Ala) n.291T>C c.1022-1727T>C c.*172T>C (n.*172T>C) n.3815T>C n.2416T>C c.2927T>C (p.Val976Ala) n.417T>C c.2975T>C (p.Val992Ala) c.3035T>C (p.Val1012Ala) c.2585T>C (p.Val862Ala) c.887T>C (p.Val296Ala) c.877-1727T>C (n.877-1727T>C) c.2936T>C (p.Val979Ala) c.3061-1727T>C (n.3061-1727T>C) c.2657T>C (p.Val886Ala) c.2731-1727T>C (n.2731-1727T>C) c.1739T>C (p.Val580Ala) n.3290T>C | ClinVar dbSNP |
13 | g.51944281A>T | CA388030740 | ATP7B | c.*894-1727T>A (n.*894-1727T>A) c.*1815T>A (n.*1815T>A) c.2450T>A (p.Val817Glu) c.3071T>A (p.Val1024Glu) c.2738T>A (p.Val913Glu) c.2819T>A (p.Val940Glu) c.2837T>A (p.Val946Glu) n.3210T>A n.3434T>A c.2006T>A (p.Val669Glu) c.1781T>A (p.Val594Glu) c.2876T>A (p.Val959Glu) n.291T>A c.1022-1727T>A c.*172T>A (n.*172T>A) n.3815T>A n.2416T>A c.2927T>A (p.Val976Glu) n.417T>A c.2975T>A (p.Val992Glu) c.3035T>A (p.Val1012Glu) c.2585T>A (p.Val862Glu) c.887T>A (p.Val296Glu) c.877-1727T>A (n.877-1727T>A) c.2936T>A (p.Val979Glu) c.3061-1727T>A (n.3061-1727T>A) c.2657T>A (p.Val886Glu) c.2731-1727T>A (n.2731-1727T>A) c.1739T>A (p.Val580Glu) n.3290T>A | |
13 | g.51944282C>A | CA388030741 | ATP7B | c.*894-1728G>T (n.*894-1728G>T) c.*1814G>T (n.*1814G>T) c.2449G>T (p.Val817Leu) c.3070G>T (p.Val1024Leu) c.2737G>T (p.Val913Leu) c.2818G>T (p.Val940Leu) c.2836G>T (p.Val946Leu) n.3209G>T n.3433G>T c.2005G>T (p.Val669Leu) c.1780G>T (p.Val594Leu) c.2875G>T (p.Val959Leu) n.290G>T c.1022-1728G>T c.*171G>T (n.*171G>T) n.3814G>T n.2415G>T c.2926G>T (p.Val976Leu) n.416G>T c.2974G>T (p.Val992Leu) c.3034G>T (p.Val1012Leu) c.2584G>T (p.Val862Leu) c.886G>T (p.Val296Leu) c.877-1728G>T (n.877-1728G>T) c.2935G>T (p.Val979Leu) c.3061-1728G>T (n.3061-1728G>T) c.2656G>T (p.Val886Leu) c.2731-1728G>T (n.2731-1728G>T) c.1738G>T (p.Val580Leu) n.3289G>T | |
13 | g.51944282C= | CA2091564257 | ATP7B | c.*894-1728G= (n.*894-1728G=) c.*1814G= (n.*1814G=) c.2449G= (p.Val817=) c.3070G= (p.Val1024=) c.2737G= (p.Val913=) c.2818G= (p.Val940=) c.2836G= (p.Val946=) n.3209G= n.3433G= c.2005G= (p.Val669=) c.1780G= (p.Val594=) c.2875G= (p.Val959=) n.290G= c.1022-1728G= c.*171G= (n.*171G=) n.3814G= n.2415G= c.2926G= (p.Val976=) n.416G= c.2974G= (p.Val992=) c.3034G= (p.Val1012=) c.2584G= (p.Val862=) c.886G= (p.Val296=) c.877-1728G= (n.877-1728G=) c.2935G= (p.Val979=) c.3061-1728G= (n.3061-1728G=) c.2656G= (p.Val886=) c.2731-1728G= (n.2731-1728G=) c.1738G= (p.Val580=) n.3289G= | |
13 | g.51944282C>G | CA250080284 | ATP7B | c.*894-1728G>C (n.*894-1728G>C) c.*1814G>C (n.*1814G>C) c.2449G>C (p.Val817Leu) c.3070G>C (p.Val1024Leu) c.2737G>C (p.Val913Leu) c.2818G>C (p.Val940Leu) c.2836G>C (p.Val946Leu) n.3209G>C n.3433G>C c.2005G>C (p.Val669Leu) c.1780G>C (p.Val594Leu) c.2875G>C (p.Val959Leu) n.290G>C c.1022-1728G>C c.*171G>C (n.*171G>C) n.3814G>C n.2415G>C c.2926G>C (p.Val976Leu) n.416G>C c.2974G>C (p.Val992Leu) c.3034G>C (p.Val1012Leu) c.2584G>C (p.Val862Leu) c.886G>C (p.Val296Leu) c.877-1728G>C (n.877-1728G>C) c.2935G>C (p.Val979Leu) c.3061-1728G>C (n.3061-1728G>C) c.2656G>C (p.Val886Leu) c.2731-1728G>C (n.2731-1728G>C) c.1738G>C (p.Val580Leu) n.3289G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.51944282C>T | CA388030742 | ATP7B | c.*894-1728G>A (n.*894-1728G>A) c.*1814G>A (n.*1814G>A) c.2449G>A (p.Val817Met) c.3070G>A (p.Val1024Met) c.2737G>A (p.Val913Met) c.2818G>A (p.Val940Met) c.2836G>A (p.Val946Met) n.3209G>A n.3433G>A c.2005G>A (p.Val669Met) c.1780G>A (p.Val594Met) c.2875G>A (p.Val959Met) n.290G>A c.1022-1728G>A c.*171G>A (n.*171G>A) n.3814G>A n.2415G>A c.2926G>A (p.Val976Met) n.416G>A c.2974G>A (p.Val992Met) c.3034G>A (p.Val1012Met) c.2584G>A (p.Val862Met) c.886G>A (p.Val296Met) c.877-1728G>A (n.877-1728G>A) c.2935G>A (p.Val979Met) c.3061-1728G>A (n.3061-1728G>A) c.2656G>A (p.Val886Met) c.2731-1728G>A (n.2731-1728G>A) c.1738G>A (p.Val580Met) n.3289G>A | |
13 | g.51944283A= | CA2091564262 | ATP7B | c.*894-1729T= (n.*894-1729T=) c.*1813T= (n.*1813T=) c.2448T= (p.Thr816=) c.3069T= (p.Thr1023=) c.2736T= (p.Thr912=) c.2817T= (p.Thr939=) c.2835T= (p.Thr945=) n.3208T= n.3432T= c.2004T= (p.Thr668=) c.1779T= (p.Thr593=) c.2874T= (p.Thr958=) n.289T= c.1022-1729T= c.*170T= (n.*170T=) n.3813T= n.2414T= c.2925T= (p.Thr975=) n.415T= c.2973T= (p.Thr991=) c.3033T= (p.Thr1011=) c.2583T= (p.Thr861=) c.885T= (p.Thr295=) c.877-1729T= (n.877-1729T=) c.2934T= (p.Thr978=) c.3061-1729T= (n.3061-1729T=) c.2655T= (p.Thr885=) c.2731-1729T= (n.2731-1729T=) c.1737T= (p.Thr579=) n.3288T= | |
13 | g.51944283A>C | CA483894769 | ATP7B | c.*894-1729T>G (n.*894-1729T>G) c.*1813T>G (n.*1813T>G) c.2448T>G (p.Thr816=) c.3069T>G (p.Thr1023=) c.2736T>G (p.Thr912=) c.2817T>G (p.Thr939=) c.2835T>G (p.Thr945=) n.3208T>G n.3432T>G c.2004T>G (p.Thr668=) c.1779T>G (p.Thr593=) c.2874T>G (p.Thr958=) n.289T>G c.1022-1729T>G c.*170T>G (n.*170T>G) n.3813T>G n.2414T>G c.2925T>G (p.Thr975=) n.415T>G c.2973T>G (p.Thr991=) c.3033T>G (p.Thr1011=) c.2583T>G (p.Thr861=) c.885T>G (p.Thr295=) c.877-1729T>G (n.877-1729T>G) c.2934T>G (p.Thr978=) c.3061-1729T>G (n.3061-1729T>G) c.2655T>G (p.Thr885=) c.2731-1729T>G (n.2731-1729T>G) c.1737T>G (p.Thr579=) n.3288T>G | |
13 | g.51944283A>G | CA205295 | ATP7B | c.*894-1729T>C (n.*894-1729T>C) c.*1813T>C (n.*1813T>C) c.2448T>C (p.Thr816=) c.3069T>C (p.Thr1023=) c.2736T>C (p.Thr912=) c.2817T>C (p.Thr939=) c.2835T>C (p.Thr945=) n.3208T>C n.3432T>C c.2004T>C (p.Thr668=) c.1779T>C (p.Thr593=) c.2874T>C (p.Thr958=) n.289T>C c.1022-1729T>C c.*170T>C (n.*170T>C) n.3813T>C n.2414T>C c.2925T>C (p.Thr975=) n.415T>C c.2973T>C (p.Thr991=) c.3033T>C (p.Thr1011=) c.2583T>C (p.Thr861=) c.885T>C (p.Thr295=) c.877-1729T>C (n.877-1729T>C) c.2934T>C (p.Thr978=) c.3061-1729T>C (n.3061-1729T>C) c.2655T>C (p.Thr885=) c.2731-1729T>C (n.2731-1729T>C) c.1737T>C (p.Thr579=) n.3288T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944283A>T | CA483894770 | ATP7B | c.*894-1729T>A (n.*894-1729T>A) c.*1813T>A (n.*1813T>A) c.2448T>A (p.Thr816=) c.3069T>A (p.Thr1023=) c.2736T>A (p.Thr912=) c.2817T>A (p.Thr939=) c.2835T>A (p.Thr945=) n.3208T>A n.3432T>A c.2004T>A (p.Thr668=) c.1779T>A (p.Thr593=) c.2874T>A (p.Thr958=) n.289T>A c.1022-1729T>A c.*170T>A (n.*170T>A) n.3813T>A n.2414T>A c.2925T>A (p.Thr975=) n.415T>A c.2973T>A (p.Thr991=) c.3033T>A (p.Thr1011=) c.2583T>A (p.Thr861=) c.885T>A (p.Thr295=) c.877-1729T>A (n.877-1729T>A) c.2934T>A (p.Thr978=) c.3061-1729T>A (n.3061-1729T>A) c.2655T>A (p.Thr885=) c.2731-1729T>A (n.2731-1729T>A) c.1737T>A (p.Thr579=) n.3288T>A | dbSNP |
13 | g.51944284G>A | CA388030750 | ATP7B | c.*894-1730C>T (n.*894-1730C>T) c.*1812C>T (n.*1812C>T) c.2447C>T (p.Thr816Ile) c.3068C>T (p.Thr1023Ile) c.2735C>T (p.Thr912Ile) c.2816C>T (p.Thr939Ile) c.2834C>T (p.Thr945Ile) n.3207C>T n.3431C>T c.2003C>T (p.Thr668Ile) c.1778C>T (p.Thr593Ile) c.2873C>T (p.Thr958Ile) n.288C>T c.1022-1730C>T c.*169C>T (n.*169C>T) n.3812C>T n.2413C>T c.2924C>T (p.Thr975Ile) n.414C>T c.2972C>T (p.Thr991Ile) c.3032C>T (p.Thr1011Ile) c.2582C>T (p.Thr861Ile) c.884C>T (p.Thr295Ile) c.877-1730C>T (n.877-1730C>T) c.2933C>T (p.Thr978Ile) c.3061-1730C>T (n.3061-1730C>T) c.2654C>T (p.Thr885Ile) c.2731-1730C>T (n.2731-1730C>T) c.1736C>T (p.Thr579Ile) n.3287C>T | |
13 | g.51944284G>C | CA388030752 | ATP7B | c.*894-1730C>G (n.*894-1730C>G) c.*1812C>G (n.*1812C>G) c.2447C>G (p.Thr816Ser) c.3068C>G (p.Thr1023Ser) c.2735C>G (p.Thr912Ser) c.2816C>G (p.Thr939Ser) c.2834C>G (p.Thr945Ser) n.3207C>G n.3431C>G c.2003C>G (p.Thr668Ser) c.1778C>G (p.Thr593Ser) c.2873C>G (p.Thr958Ser) n.288C>G c.1022-1730C>G c.*169C>G (n.*169C>G) n.3812C>G n.2413C>G c.2924C>G (p.Thr975Ser) n.414C>G c.2972C>G (p.Thr991Ser) c.3032C>G (p.Thr1011Ser) c.2582C>G (p.Thr861Ser) c.884C>G (p.Thr295Ser) c.877-1730C>G (n.877-1730C>G) c.2933C>G (p.Thr978Ser) c.3061-1730C>G (n.3061-1730C>G) c.2654C>G (p.Thr885Ser) c.2731-1730C>G (n.2731-1730C>G) c.1736C>G (p.Thr579Ser) n.3287C>G | |
13 | g.51944284G>T | CA388030753 | ATP7B | c.*894-1730C>A (n.*894-1730C>A) c.*1812C>A (n.*1812C>A) c.2447C>A (p.Thr816Asn) c.3068C>A (p.Thr1023Asn) c.2735C>A (p.Thr912Asn) c.2816C>A (p.Thr939Asn) c.2834C>A (p.Thr945Asn) n.3207C>A n.3431C>A c.2003C>A (p.Thr668Asn) c.1778C>A (p.Thr593Asn) c.2873C>A (p.Thr958Asn) n.288C>A c.1022-1730C>A c.*169C>A (n.*169C>A) n.3812C>A n.2413C>A c.2924C>A (p.Thr975Asn) n.414C>A c.2972C>A (p.Thr991Asn) c.3032C>A (p.Thr1011Asn) c.2582C>A (p.Thr861Asn) c.884C>A (p.Thr295Asn) c.877-1730C>A (n.877-1730C>A) c.2933C>A (p.Thr978Asn) c.3061-1730C>A (n.3061-1730C>A) c.2654C>A (p.Thr885Asn) c.2731-1730C>A (n.2731-1730C>A) c.1736C>A (p.Thr579Asn) n.3287C>A | |
13 | g.51944285T>A | CA388030754 | ATP7B | c.*894-1731A>T (n.*894-1731A>T) c.*1811A>T (n.*1811A>T) c.2446A>T (p.Thr816Ser) c.3067A>T (p.Thr1023Ser) c.2734A>T (p.Thr912Ser) c.2815A>T (p.Thr939Ser) c.2833A>T (p.Thr945Ser) n.3206A>T n.3430A>T c.2002A>T (p.Thr668Ser) c.1777A>T (p.Thr593Ser) c.2872A>T (p.Thr958Ser) n.287A>T c.1022-1731A>T c.*168A>T (n.*168A>T) n.3811A>T n.2412A>T c.2923A>T (p.Thr975Ser) n.413A>T c.2971A>T (p.Thr991Ser) c.3031A>T (p.Thr1011Ser) c.2581A>T (p.Thr861Ser) c.883A>T (p.Thr295Ser) c.877-1731A>T (n.877-1731A>T) c.2932A>T (p.Thr978Ser) c.3061-1731A>T (n.3061-1731A>T) c.2653A>T (p.Thr885Ser) c.2731-1731A>T (n.2731-1731A>T) c.1735A>T (p.Thr579Ser) n.3286A>T | |
13 | g.51944285T>C | CA6988813 | ATP7B | c.*894-1731A>G (n.*894-1731A>G) c.*1811A>G (n.*1811A>G) c.2446A>G (p.Thr816Ala) c.3067A>G (p.Thr1023Ala) c.2734A>G (p.Thr912Ala) c.2815A>G (p.Thr939Ala) c.2833A>G (p.Thr945Ala) n.3206A>G n.3430A>G c.2002A>G (p.Thr668Ala) c.1777A>G (p.Thr593Ala) c.2872A>G (p.Thr958Ala) n.287A>G c.1022-1731A>G c.*168A>G (n.*168A>G) n.3811A>G n.2412A>G c.2923A>G (p.Thr975Ala) n.413A>G c.2971A>G (p.Thr991Ala) c.3031A>G (p.Thr1011Ala) c.2581A>G (p.Thr861Ala) c.883A>G (p.Thr295Ala) c.877-1731A>G (n.877-1731A>G) c.2932A>G (p.Thr978Ala) c.3061-1731A>G (n.3061-1731A>G) c.2653A>G (p.Thr885Ala) c.2731-1731A>G (n.2731-1731A>G) c.1735A>G (p.Thr579Ala) n.3286A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944285T>G | CA388030760 | ATP7B | c.*894-1731A>C (n.*894-1731A>C) c.*1811A>C (n.*1811A>C) c.2446A>C (p.Thr816Pro) c.3067A>C (p.Thr1023Pro) c.2734A>C (p.Thr912Pro) c.2815A>C (p.Thr939Pro) c.2833A>C (p.Thr945Pro) n.3206A>C n.3430A>C c.2002A>C (p.Thr668Pro) c.1777A>C (p.Thr593Pro) c.2872A>C (p.Thr958Pro) n.287A>C c.1022-1731A>C c.*168A>C (n.*168A>C) n.3811A>C n.2412A>C c.2923A>C (p.Thr975Pro) n.413A>C c.2971A>C (p.Thr991Pro) c.3031A>C (p.Thr1011Pro) c.2581A>C (p.Thr861Pro) c.883A>C (p.Thr295Pro) c.877-1731A>C (n.877-1731A>C) c.2932A>C (p.Thr978Pro) c.3061-1731A>C (n.3061-1731A>C) c.2653A>C (p.Thr885Pro) c.2731-1731A>C (n.2731-1731A>C) c.1735A>C (p.Thr579Pro) n.3286A>C | |
13 | g.51944285T= | CA2091564268 | ATP7B | c.*894-1731A= (n.*894-1731A=) c.*1811A= (n.*1811A=) c.2446A= (p.Thr816=) c.3067A= (p.Thr1023=) c.2734A= (p.Thr912=) c.2815A= (p.Thr939=) c.2833A= (p.Thr945=) n.3206A= n.3430A= c.2002A= (p.Thr668=) c.1777A= (p.Thr593=) c.2872A= (p.Thr958=) n.287A= c.1022-1731A= c.*168A= (n.*168A=) n.3811A= n.2412A= c.2923A= (p.Thr975=) n.413A= c.2971A= (p.Thr991=) c.3031A= (p.Thr1011=) c.2581A= (p.Thr861=) c.883A= (p.Thr295=) c.877-1731A= (n.877-1731A=) c.2932A= (p.Thr978=) c.3061-1731A= (n.3061-1731A=) c.2653A= (p.Thr885=) c.2731-1731A= (n.2731-1731A=) c.1735A= (p.Thr579=) n.3286A= | |
13 | g.51944286_51944288del | CA2623116490 | ATP7B | c.*894-1733_*894-1731del (n.*894-1733_*894-1731del) c.*1809_*1811del (n.*1809_*1811del) c.2444_2446del (p.Lys815del) c.3065_3067del (p.Lys1022del) c.2732_2734del (p.Lys911del) c.2813_2815del (p.Lys938del) c.2831_2833del (p.Lys944del) n.3204_3206del n.3428_3430del c.2000_2002del (p.Lys667del) c.1775_1777del (p.Lys592del) c.2870_2872del (p.Lys957del) n.285_287del c.1022-1733_1022-1731del c.*166_*168del (n.*166_*168del) n.3809_3811del n.2410_2412del c.2921_2923del (p.Lys974del) n.411_413del c.2969_2971del (p.Lys990del) c.3029_3031del (p.Lys1010del) c.2579_2581del (p.Lys860del) c.881_883del (p.Lys294del) c.877-1733_877-1731del (n.877-1733_877-1731del) c.2930_2932del (p.Lys977del) c.3061-1733_3061-1731del (n.3061-1733_3061-1731del) c.2651_2653del (p.Lys884del) c.2731-1733_2731-1731del (n.2731-1733_2731-1731del) c.1733_1735del (p.Lys578del) n.3284_3286del | gnomAD v4 |
13 | g.51944286C>A | CA388030765 | ATP7B | c.*894-1732G>T (n.*894-1732G>T) c.*1810G>T (n.*1810G>T) c.2445G>T (p.Lys815Asn) c.3066G>T (p.Lys1022Asn) c.2733G>T (p.Lys911Asn) c.2814G>T (p.Lys938Asn) c.2832G>T (p.Lys944Asn) n.3205G>T n.3429G>T c.2001G>T (p.Lys667Asn) c.1776G>T (p.Lys592Asn) c.2871G>T (p.Lys957Asn) n.286G>T c.1022-1732G>T c.*167G>T (n.*167G>T) n.3810G>T n.2411G>T c.2922G>T (p.Lys974Asn) n.412G>T c.2970G>T (p.Lys990Asn) c.3030G>T (p.Lys1010Asn) c.2580G>T (p.Lys860Asn) c.882G>T (p.Lys294Asn) c.877-1732G>T (n.877-1732G>T) c.2931G>T (p.Lys977Asn) c.3061-1732G>T (n.3061-1732G>T) c.2652G>T (p.Lys884Asn) c.2731-1732G>T (n.2731-1732G>T) c.1734G>T (p.Lys578Asn) n.3285G>T | |
13 | g.51944286C>G | CA388030764 | ATP7B | c.*894-1732G>C (n.*894-1732G>C) c.*1810G>C (n.*1810G>C) c.2445G>C (p.Lys815Asn) c.3066G>C (p.Lys1022Asn) c.2733G>C (p.Lys911Asn) c.2814G>C (p.Lys938Asn) c.2832G>C (p.Lys944Asn) n.3205G>C n.3429G>C c.2001G>C (p.Lys667Asn) c.1776G>C (p.Lys592Asn) c.2871G>C (p.Lys957Asn) n.286G>C c.1022-1732G>C c.*167G>C (n.*167G>C) n.3810G>C n.2411G>C c.2922G>C (p.Lys974Asn) n.412G>C c.2970G>C (p.Lys990Asn) c.3030G>C (p.Lys1010Asn) c.2580G>C (p.Lys860Asn) c.882G>C (p.Lys294Asn) c.877-1732G>C (n.877-1732G>C) c.2931G>C (p.Lys977Asn) c.3061-1732G>C (n.3061-1732G>C) c.2652G>C (p.Lys884Asn) c.2731-1732G>C (n.2731-1732G>C) c.1734G>C (p.Lys578Asn) n.3285G>C | |
13 | g.51944286C>T | CA483894771 | ATP7B | c.*894-1732G>A (n.*894-1732G>A) c.*1810G>A (n.*1810G>A) c.2445G>A (p.Lys815=) c.3066G>A (p.Lys1022=) c.2733G>A (p.Lys911=) c.2814G>A (p.Lys938=) c.2832G>A (p.Lys944=) n.3205G>A n.3429G>A c.2001G>A (p.Lys667=) c.1776G>A (p.Lys592=) c.2871G>A (p.Lys957=) n.286G>A c.1022-1732G>A c.*167G>A (n.*167G>A) n.3810G>A n.2411G>A c.2922G>A (p.Lys974=) n.412G>A c.2970G>A (p.Lys990=) c.3030G>A (p.Lys1010=) c.2580G>A (p.Lys860=) c.882G>A (p.Lys294=) c.877-1732G>A (n.877-1732G>A) c.2931G>A (p.Lys977=) c.3061-1732G>A (n.3061-1732G>A) c.2652G>A (p.Lys884=) c.2731-1732G>A (n.2731-1732G>A) c.1734G>A (p.Lys578=) n.3285G>A | ClinVar dbSNP gnomAD v4 |
13 | g.51944287T>A | CA388030772 | ATP7B | c.*894-1733A>T (n.*894-1733A>T) c.*1809A>T (n.*1809A>T) c.2444A>T (p.Lys815Met) c.3065A>T (p.Lys1022Met) c.2732A>T (p.Lys911Met) c.2813A>T (p.Lys938Met) c.2831A>T (p.Lys944Met) n.3204A>T n.3428A>T c.2000A>T (p.Lys667Met) c.1775A>T (p.Lys592Met) c.2870A>T (p.Lys957Met) n.285A>T c.1022-1733A>T c.*166A>T (n.*166A>T) n.3809A>T n.2410A>T c.2921A>T (p.Lys974Met) n.411A>T c.2969A>T (p.Lys990Met) c.3029A>T (p.Lys1010Met) c.2579A>T (p.Lys860Met) c.881A>T (p.Lys294Met) c.877-1733A>T (n.877-1733A>T) c.2930A>T (p.Lys977Met) c.3061-1733A>T (n.3061-1733A>T) c.2651A>T (p.Lys884Met) c.2731-1733A>T (n.2731-1733A>T) c.1733A>T (p.Lys578Met) n.3284A>T | |
13 | g.51944287T>C | CA388030783 | ATP7B | c.*894-1733A>G (n.*894-1733A>G) c.*1809A>G (n.*1809A>G) c.2444A>G (p.Lys815Arg) c.3065A>G (p.Lys1022Arg) c.2732A>G (p.Lys911Arg) c.2813A>G (p.Lys938Arg) c.2831A>G (p.Lys944Arg) n.3204A>G n.3428A>G c.2000A>G (p.Lys667Arg) c.1775A>G (p.Lys592Arg) c.2870A>G (p.Lys957Arg) n.285A>G c.1022-1733A>G c.*166A>G (n.*166A>G) n.3809A>G n.2410A>G c.2921A>G (p.Lys974Arg) n.411A>G c.2969A>G (p.Lys990Arg) c.3029A>G (p.Lys1010Arg) c.2579A>G (p.Lys860Arg) c.881A>G (p.Lys294Arg) c.877-1733A>G (n.877-1733A>G) c.2930A>G (p.Lys977Arg) c.3061-1733A>G (n.3061-1733A>G) c.2651A>G (p.Lys884Arg) c.2731-1733A>G (n.2731-1733A>G) c.1733A>G (p.Lys578Arg) n.3284A>G | |
13 | g.51944287T>G | CA388030779 | ATP7B | c.*894-1733A>C (n.*894-1733A>C) c.*1809A>C (n.*1809A>C) c.2444A>C (p.Lys815Thr) c.3065A>C (p.Lys1022Thr) c.2732A>C (p.Lys911Thr) c.2813A>C (p.Lys938Thr) c.2831A>C (p.Lys944Thr) n.3204A>C n.3428A>C c.2000A>C (p.Lys667Thr) c.1775A>C (p.Lys592Thr) c.2870A>C (p.Lys957Thr) n.285A>C c.1022-1733A>C c.*166A>C (n.*166A>C) n.3809A>C n.2410A>C c.2921A>C (p.Lys974Thr) n.411A>C c.2969A>C (p.Lys990Thr) c.3029A>C (p.Lys1010Thr) c.2579A>C (p.Lys860Thr) c.881A>C (p.Lys294Thr) c.877-1733A>C (n.877-1733A>C) c.2930A>C (p.Lys977Thr) c.3061-1733A>C (n.3061-1733A>C) c.2651A>C (p.Lys884Thr) c.2731-1733A>C (n.2731-1733A>C) c.1733A>C (p.Lys578Thr) n.3284A>C | |
13 | g.51944288T>A | CA388030788 | ATP7B | c.*894-1734A>T (n.*894-1734A>T) c.*1808A>T (n.*1808A>T) c.2443A>T (p.Lys815Ter) c.3064A>T (p.Lys1022Ter) c.2731A>T (p.Lys911Ter) c.2812A>T (p.Lys938Ter) c.2830A>T (p.Lys944Ter) n.3203A>T n.3427A>T c.1999A>T (p.Lys667Ter) c.1774A>T (p.Lys592Ter) c.2869A>T (p.Lys957Ter) n.284A>T c.1022-1734A>T c.*165A>T (n.*165A>T) n.3808A>T n.2409A>T c.2920A>T (p.Lys974Ter) n.410A>T c.2968A>T (p.Lys990Ter) c.3028A>T (p.Lys1010Ter) c.2578A>T (p.Lys860Ter) c.880A>T (p.Lys294Ter) c.877-1734A>T (n.877-1734A>T) c.2929A>T (p.Lys977Ter) c.3061-1734A>T (n.3061-1734A>T) c.2650A>T (p.Lys884Ter) c.2731-1734A>T (n.2731-1734A>T) c.1732A>T (p.Lys578Ter) n.3283A>T | |
13 | g.51944288T>C | CA388030795 | ATP7B | c.*894-1734A>G (n.*894-1734A>G) c.*1808A>G (n.*1808A>G) c.2443A>G (p.Lys815Glu) c.3064A>G (p.Lys1022Glu) c.2731A>G (p.Lys911Glu) c.2812A>G (p.Lys938Glu) c.2830A>G (p.Lys944Glu) n.3203A>G n.3427A>G c.1999A>G (p.Lys667Glu) c.1774A>G (p.Lys592Glu) c.2869A>G (p.Lys957Glu) n.284A>G c.1022-1734A>G c.*165A>G (n.*165A>G) n.3808A>G n.2409A>G c.2920A>G (p.Lys974Glu) n.410A>G c.2968A>G (p.Lys990Glu) c.3028A>G (p.Lys1010Glu) c.2578A>G (p.Lys860Glu) c.880A>G (p.Lys294Glu) c.877-1734A>G (n.877-1734A>G) c.2929A>G (p.Lys977Glu) c.3061-1734A>G (n.3061-1734A>G) c.2650A>G (p.Lys884Glu) c.2731-1734A>G (n.2731-1734A>G) c.1732A>G (p.Lys578Glu) n.3283A>G | |
13 | g.51944288T>G | CA388030790 | ATP7B | c.*894-1734A>C (n.*894-1734A>C) c.*1808A>C (n.*1808A>C) c.2443A>C (p.Lys815Gln) c.3064A>C (p.Lys1022Gln) c.2731A>C (p.Lys911Gln) c.2812A>C (p.Lys938Gln) c.2830A>C (p.Lys944Gln) n.3203A>C n.3427A>C c.1999A>C (p.Lys667Gln) c.1774A>C (p.Lys592Gln) c.2869A>C (p.Lys957Gln) n.284A>C c.1022-1734A>C c.*165A>C (n.*165A>C) n.3808A>C n.2409A>C c.2920A>C (p.Lys974Gln) n.410A>C c.2968A>C (p.Lys990Gln) c.3028A>C (p.Lys1010Gln) c.2578A>C (p.Lys860Gln) c.880A>C (p.Lys294Gln) c.877-1734A>C (n.877-1734A>C) c.2929A>C (p.Lys977Gln) c.3061-1734A>C (n.3061-1734A>C) c.2650A>C (p.Lys884Gln) c.2731-1734A>C (n.2731-1734A>C) c.1732A>C (p.Lys578Gln) n.3283A>C | |
13 | g.51944288_51944289insG | CA2623116494 | ATP7B | c.*894-1735_*894-1734insC (n.*894-1735_*894-1734insC) c.*1807_*1808insC (n.*1807_*1808insC) c.2442_2443insC (p.Lys815GlnfsTer6) c.3063_3064insC (p.Lys1022GlnfsTer6) c.2730_2731insC (p.Lys911GlnfsTer6) c.2811_2812insC (p.Lys938GlnfsTer6) c.2829_2830insC (p.Lys944GlnfsTer6) n.3202_3203insC n.3426_3427insC c.1998_1999insC (p.Lys667GlnfsTer6) c.1773_1774insC (p.Lys592GlnfsTer6) c.2868_2869insC (p.Lys957GlnfsTer6) n.283_284insC c.1022-1735_1022-1734insC c.*164_*165insC (n.*164_*165insC) n.3807_3808insC n.2408_2409insC c.2919_2920insC (p.Lys974GlnfsTer6) n.409_410insC c.2967_2968insC (p.Lys990GlnfsTer6) c.3027_3028insC (p.Lys1010GlnfsTer6) c.2577_2578insC (p.Lys860GlnfsTer6) c.879_880insC (p.Lys294GlnfsTer6) c.877-1735_877-1734insC (n.877-1735_877-1734insC) c.2928_2929insC (p.Lys977GlnfsTer6) c.3061-1735_3061-1734insC (n.3061-1735_3061-1734insC) c.2649_2650insC (p.Lys884GlnfsTer6) c.2731-1735_2731-1734insC (n.2731-1735_2731-1734insC) c.1731_1732insC (p.Lys578GlnfsTer6) n.3282_3283insC | gnomAD v4 |
13 | g.51944289T>A | CA483894772 | ATP7B | c.*894-1735A>T (n.*894-1735A>T) c.*1807A>T (n.*1807A>T) c.2442A>T (p.Ile814=) c.3063A>T (p.Ile1021=) c.2730A>T (p.Ile910=) c.2811A>T (p.Ile937=) c.2829A>T (p.Ile943=) n.3202A>T n.3426A>T c.1998A>T (p.Ile666=) c.1773A>T (p.Ile591=) c.2868A>T (p.Ile956=) n.283A>T c.1022-1735A>T c.*164A>T (n.*164A>T) n.3807A>T n.2408A>T c.2919A>T (p.Ile973=) n.409A>T c.2967A>T (p.Ile989=) c.3027A>T (p.Ile1009=) c.2577A>T (p.Ile859=) c.879A>T (p.Ile293=) c.877-1735A>T (n.877-1735A>T) c.2928A>T (p.Ile976=) c.3061-1735A>T (n.3061-1735A>T) c.2649A>T (p.Ile883=) c.2731-1735A>T (n.2731-1735A>T) c.1731A>T (p.Ile577=) n.3282A>T | |
13 | g.51944289T>C | CA388030797 | ATP7B | c.*894-1735A>G (n.*894-1735A>G) c.*1807A>G (n.*1807A>G) c.2442A>G (p.Ile814Met) c.3063A>G (p.Ile1021Met) c.2730A>G (p.Ile910Met) c.2811A>G (p.Ile937Met) c.2829A>G (p.Ile943Met) n.3202A>G n.3426A>G c.1998A>G (p.Ile666Met) c.1773A>G (p.Ile591Met) c.2868A>G (p.Ile956Met) n.283A>G c.1022-1735A>G c.*164A>G (n.*164A>G) n.3807A>G n.2408A>G c.2919A>G (p.Ile973Met) n.409A>G c.2967A>G (p.Ile989Met) c.3027A>G (p.Ile1009Met) c.2577A>G (p.Ile859Met) c.879A>G (p.Ile293Met) c.877-1735A>G (n.877-1735A>G) c.2928A>G (p.Ile976Met) c.3061-1735A>G (n.3061-1735A>G) c.2649A>G (p.Ile883Met) c.2731-1735A>G (n.2731-1735A>G) c.1731A>G (p.Ile577Met) n.3282A>G | dbSNP |
13 | g.51944289T>G | CA483894773 | ATP7B | c.*894-1735A>C (n.*894-1735A>C) c.*1807A>C (n.*1807A>C) c.2442A>C (p.Ile814=) c.3063A>C (p.Ile1021=) c.2730A>C (p.Ile910=) c.2811A>C (p.Ile937=) c.2829A>C (p.Ile943=) n.3202A>C n.3426A>C c.1998A>C (p.Ile666=) c.1773A>C (p.Ile591=) c.2868A>C (p.Ile956=) n.283A>C c.1022-1735A>C c.*164A>C (n.*164A>C) n.3807A>C n.2408A>C c.2919A>C (p.Ile973=) n.409A>C c.2967A>C (p.Ile989=) c.3027A>C (p.Ile1009=) c.2577A>C (p.Ile859=) c.879A>C (p.Ile293=) c.877-1735A>C (n.877-1735A>C) c.2928A>C (p.Ile976=) c.3061-1735A>C (n.3061-1735A>C) c.2649A>C (p.Ile883=) c.2731-1735A>C (n.2731-1735A>C) c.1731A>C (p.Ile577=) n.3282A>C | |
13 | g.51944289T= | CA2091564275 | ATP7B | c.*894-1735A= (n.*894-1735A=) c.*1807A= (n.*1807A=) c.2442A= (p.Ile814=) c.3063A= (p.Ile1021=) c.2730A= (p.Ile910=) c.2811A= (p.Ile937=) c.2829A= (p.Ile943=) n.3202A= n.3426A= c.1998A= (p.Ile666=) c.1773A= (p.Ile591=) c.2868A= (p.Ile956=) n.283A= c.1022-1735A= c.*164A= (n.*164A=) n.3807A= n.2408A= c.2919A= (p.Ile973=) n.409A= c.2967A= (p.Ile989=) c.3027A= (p.Ile1009=) c.2577A= (p.Ile859=) c.879A= (p.Ile293=) c.877-1735A= (n.877-1735A=) c.2928A= (p.Ile976=) c.3061-1735A= (n.3061-1735A=) c.2649A= (p.Ile883=) c.2731-1735A= (n.2731-1735A=) c.1731A= (p.Ile577=) n.3282A= | |
13 | g.51944289_51944290insG | CA2623116502 | ATP7B | c.*894-1736_*894-1735insC (n.*894-1736_*894-1735insC) c.*1806_*1807insC (n.*1806_*1807insC) c.2441_2442insC (p.Thr816AspfsTer5) c.3062_3063insC (p.Thr1023AspfsTer5) c.2729_2730insC (p.Thr912AspfsTer5) c.2810_2811insC (p.Thr939AspfsTer5) c.2828_2829insC (p.Thr945AspfsTer5) n.3201_3202insC n.3425_3426insC c.1997_1998insC (p.Thr668AspfsTer5) c.1772_1773insC (p.Thr593AspfsTer5) c.2867_2868insC (p.Thr958AspfsTer5) n.282_283insC c.1022-1736_1022-1735insC c.*163_*164insC (n.*163_*164insC) n.3806_3807insC n.2407_2408insC c.2918_2919insC (p.Thr975AspfsTer5) n.408_409insC c.2966_2967insC (p.Thr991AspfsTer5) c.3026_3027insC (p.Thr1011AspfsTer5) c.2576_2577insC (p.Thr861AspfsTer5) c.878_879insC (p.Thr295AspfsTer5) c.877-1736_877-1735insC (n.877-1736_877-1735insC) c.2927_2928insC (p.Thr978AspfsTer5) c.3061-1736_3061-1735insC (n.3061-1736_3061-1735insC) c.2648_2649insC (p.Thr885AspfsTer5) c.2731-1736_2731-1735insC (n.2731-1736_2731-1735insC) c.1730_1731insC (p.Thr579AspfsTer5) n.3281_3282insC | gnomAD v4 |
13 | g.51944290A= | CA2091564280 | ATP7B | c.*894-1736T= (n.*894-1736T=) c.*1806T= (n.*1806T=) c.2441T= (p.Ile814=) c.3062T= (p.Ile1021=) c.2729T= (p.Ile910=) c.2810T= (p.Ile937=) c.2828T= (p.Ile943=) n.3201T= n.3425T= c.1997T= (p.Ile666=) c.1772T= (p.Ile591=) c.2867T= (p.Ile956=) n.282T= c.1022-1736T= c.*163T= (n.*163T=) n.3806T= n.2407T= c.2918T= (p.Ile973=) n.408T= c.2966T= (p.Ile989=) c.3026T= (p.Ile1009=) c.2576T= (p.Ile859=) c.878T= (p.Ile293=) c.877-1736T= (n.877-1736T=) c.2927T= (p.Ile976=) c.3061-1736T= (n.3061-1736T=) c.2648T= (p.Ile883=) c.2731-1736T= (n.2731-1736T=) c.1730T= (p.Ile577=) n.3281T= | |
13 | g.51944290A>C | CA388030799 | ATP7B | c.*894-1736T>G (n.*894-1736T>G) c.*1806T>G (n.*1806T>G) c.2441T>G (p.Ile814Arg) c.3062T>G (p.Ile1021Arg) c.2729T>G (p.Ile910Arg) c.2810T>G (p.Ile937Arg) c.2828T>G (p.Ile943Arg) n.3201T>G n.3425T>G c.1997T>G (p.Ile666Arg) c.1772T>G (p.Ile591Arg) c.2867T>G (p.Ile956Arg) n.282T>G c.1022-1736T>G c.*163T>G (n.*163T>G) n.3806T>G n.2407T>G c.2918T>G (p.Ile973Arg) n.408T>G c.2966T>G (p.Ile989Arg) c.3026T>G (p.Ile1009Arg) c.2576T>G (p.Ile859Arg) c.878T>G (p.Ile293Arg) c.877-1736T>G (n.877-1736T>G) c.2927T>G (p.Ile976Arg) c.3061-1736T>G (n.3061-1736T>G) c.2648T>G (p.Ile883Arg) c.2731-1736T>G (n.2731-1736T>G) c.1730T>G (p.Ile577Arg) n.3281T>G | |
13 | g.51944290A>G | CA388030800 | ATP7B | c.*894-1736T>C (n.*894-1736T>C) c.*1806T>C (n.*1806T>C) c.2441T>C (p.Ile814Thr) c.3062T>C (p.Ile1021Thr) c.2729T>C (p.Ile910Thr) c.2810T>C (p.Ile937Thr) c.2828T>C (p.Ile943Thr) n.3201T>C n.3425T>C c.1997T>C (p.Ile666Thr) c.1772T>C (p.Ile591Thr) c.2867T>C (p.Ile956Thr) n.282T>C c.1022-1736T>C c.*163T>C (n.*163T>C) n.3806T>C n.2407T>C c.2918T>C (p.Ile973Thr) n.408T>C c.2966T>C (p.Ile989Thr) c.3026T>C (p.Ile1009Thr) c.2576T>C (p.Ile859Thr) c.878T>C (p.Ile293Thr) c.877-1736T>C (n.877-1736T>C) c.2927T>C (p.Ile976Thr) c.3061-1736T>C (n.3061-1736T>C) c.2648T>C (p.Ile883Thr) c.2731-1736T>C (n.2731-1736T>C) c.1730T>C (p.Ile577Thr) n.3281T>C | |
13 | g.51944290A>T | CA250080312 | ATP7B | c.*894-1736T>A (n.*894-1736T>A) c.*1806T>A (n.*1806T>A) c.2441T>A (p.Ile814Lys) c.3062T>A (p.Ile1021Lys) c.2729T>A (p.Ile910Lys) c.2810T>A (p.Ile937Lys) c.2828T>A (p.Ile943Lys) n.3201T>A n.3425T>A c.1997T>A (p.Ile666Lys) c.1772T>A (p.Ile591Lys) c.2867T>A (p.Ile956Lys) n.282T>A c.1022-1736T>A c.*163T>A (n.*163T>A) n.3806T>A n.2407T>A c.2918T>A (p.Ile973Lys) n.408T>A c.2966T>A (p.Ile989Lys) c.3026T>A (p.Ile1009Lys) c.2576T>A (p.Ile859Lys) c.878T>A (p.Ile293Lys) c.877-1736T>A (n.877-1736T>A) c.2927T>A (p.Ile976Lys) c.3061-1736T>A (n.3061-1736T>A) c.2648T>A (p.Ile883Lys) c.2731-1736T>A (n.2731-1736T>A) c.1730T>A (p.Ile577Lys) n.3281T>A | ClinVar dbSNP |
13 | g.51944291T>A | CA388030806 | ATP7B | c.*894-1737A>T (n.*894-1737A>T) c.*1805A>T (n.*1805A>T) c.2440A>T (p.Ile814Leu) c.3061A>T (p.Ile1021Leu) c.2728A>T (p.Ile910Leu) c.2809A>T (p.Ile937Leu) c.2827A>T (p.Ile943Leu) n.3200A>T n.3424A>T c.1996A>T (p.Ile666Leu) c.1771A>T (p.Ile591Leu) c.2866A>T (p.Ile956Leu) n.281A>T c.1022-1737A>T c.*162A>T (n.*162A>T) n.3805A>T n.2406A>T c.2917A>T (p.Ile973Leu) n.407A>T c.2965A>T (p.Ile989Leu) c.3025A>T (p.Ile1009Leu) c.2575A>T (p.Ile859Leu) c.877A>T (p.Ile293Leu) c.877-1737A>T (n.877-1737A>T) c.2926A>T (p.Ile976Leu) c.3061-1737A>T (n.3061-1737A>T) c.2647A>T (p.Ile883Leu) c.2731-1737A>T (n.2731-1737A>T) c.1729A>T (p.Ile577Leu) n.3280A>T | |
13 | g.51944291T>C | CA6988814 | ATP7B | c.*894-1737A>G (n.*894-1737A>G) c.*1805A>G (n.*1805A>G) c.2440A>G (p.Ile814Val) c.3061A>G (p.Ile1021Val) c.2728A>G (p.Ile910Val) c.2809A>G (p.Ile937Val) c.2827A>G (p.Ile943Val) n.3200A>G n.3424A>G c.1996A>G (p.Ile666Val) c.1771A>G (p.Ile591Val) c.2866A>G (p.Ile956Val) n.281A>G c.1022-1737A>G c.*162A>G (n.*162A>G) n.3805A>G n.2406A>G c.2917A>G (p.Ile973Val) n.407A>G c.2965A>G (p.Ile989Val) c.3025A>G (p.Ile1009Val) c.2575A>G (p.Ile859Val) c.877A>G (p.Ile293Val) c.877-1737A>G (n.877-1737A>G) c.2926A>G (p.Ile976Val) c.3061-1737A>G (n.3061-1737A>G) c.2647A>G (p.Ile883Val) c.2731-1737A>G (n.2731-1737A>G) c.1729A>G (p.Ile577Val) n.3280A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944291T>G | CA388030811 | ATP7B | c.*894-1737A>C (n.*894-1737A>C) c.*1805A>C (n.*1805A>C) c.2440A>C (p.Ile814Leu) c.3061A>C (p.Ile1021Leu) c.2728A>C (p.Ile910Leu) c.2809A>C (p.Ile937Leu) c.2827A>C (p.Ile943Leu) n.3200A>C n.3424A>C c.1996A>C (p.Ile666Leu) c.1771A>C (p.Ile591Leu) c.2866A>C (p.Ile956Leu) n.281A>C c.1022-1737A>C c.*162A>C (n.*162A>C) n.3805A>C n.2406A>C c.2917A>C (p.Ile973Leu) n.407A>C c.2965A>C (p.Ile989Leu) c.3025A>C (p.Ile1009Leu) c.2575A>C (p.Ile859Leu) c.877A>C (p.Ile293Leu) c.877-1737A>C (n.877-1737A>C) c.2926A>C (p.Ile976Leu) c.3061-1737A>C (n.3061-1737A>C) c.2647A>C (p.Ile883Leu) c.2731-1737A>C (n.2731-1737A>C) c.1729A>C (p.Ile577Leu) n.3280A>C | |
13 | g.51944291T= | CA2091564288 | ATP7B | c.*894-1737A= (n.*894-1737A=) c.*1805A= (n.*1805A=) c.2440A= (p.Ile814=) c.3061A= (p.Ile1021=) c.2728A= (p.Ile910=) c.2809A= (p.Ile937=) c.2827A= (p.Ile943=) n.3200A= n.3424A= c.1996A= (p.Ile666=) c.1771A= (p.Ile591=) c.2866A= (p.Ile956=) n.281A= c.1022-1737A= c.*162A= (n.*162A=) n.3805A= n.2406A= c.2917A= (p.Ile973=) n.407A= c.2965A= (p.Ile989=) c.3025A= (p.Ile1009=) c.2575A= (p.Ile859=) c.877A= (p.Ile293=) c.877-1737A= (n.877-1737A=) c.2926A= (p.Ile976=) c.3061-1737A= (n.3061-1737A=) c.2647A= (p.Ile883=) c.2731-1737A= (n.2731-1737A=) c.1729A= (p.Ile577=) n.3280A= | |
13 | g.51944292_51944293del | CA2623116511 | ATP7B | c.*894-1738_*894-1737del (n.*894-1738_*894-1737del) c.*1805-1_*1805del c.2440-1_2440del c.3061-1_3061del c.2728-1_2728del c.2809-1_2809del c.2827-1_2827del n.3199_3200del n.3424-1_3424del c.1996-1_1996del c.1771-1_1771del c.2866-1_2866del n.281-1_281del c.1022-1738_1022-1737del c.*162-1_*162del n.3805-1_3805del n.2406-1_2406del c.2917-1_2917del n.407-1_407del c.2965-1_2965del c.3025-1_3025del c.2575-1_2575del c.877-1_877del c.877-1738_877-1737del (n.877-1738_877-1737del) c.2926-1_2926del c.3061-1738_3061-1737del (n.3061-1738_3061-1737del) c.2647-1_2647del c.2731-1738_2731-1737del (n.2731-1738_2731-1737del) c.1729-1_1729del n.3280-1_3280del | gnomAD v4 |
13 | g.51944292C>A | CA388030816 | ATP7B | c.*894-1738G>T (n.*894-1738G>T) c.*1805-1G>T (n.*1805-1G>T) c.2440-1G>T (n.2440-1G>T) c.3061-1G>T (n.3061-1G>T) c.2728-1G>T (n.2728-1G>T) c.2809-1G>T (n.2809-1G>T) c.2827-1G>T (n.2827-1G>T) n.3199G>T n.3424-1G>T c.1996-1G>T (n.1996-1G>T) c.1771-1G>T (n.1771-1G>T) c.2866-1G>T (n.2866-1G>T) n.281-1G>T c.1022-1738G>T c.*162-1G>T (n.*162-1G>T) n.3805-1G>T n.2406-1G>T c.2917-1G>T (n.2917-1G>T) n.407-1G>T c.2965-1G>T (n.2965-1G>T) c.3025-1G>T (n.3025-1G>T) c.2575-1G>T (n.2575-1G>T) c.877-1G>T (n.877-1G>T) c.877-1738G>T (n.877-1738G>T) c.2926-1G>T (n.2926-1G>T) c.3061-1738G>T (n.3061-1738G>T) c.2647-1G>T (n.2647-1G>T) c.2731-1738G>T (n.2731-1738G>T) c.1729-1G>T (n.1729-1G>T) n.3280-1G>T | |
13 | g.51944292C= | CA2091564293 | ATP7B | c.*894-1738G= (n.*894-1738G=) c.*1805-1G= (n.*1805-1G=) c.2440-1G= (n.2440-1G=) c.3061-1G= (n.3061-1G=) c.2728-1G= (n.2728-1G=) c.2809-1G= (n.2809-1G=) c.2827-1G= (n.2827-1G=) n.3199G= n.3424-1G= c.1996-1G= (n.1996-1G=) c.1771-1G= (n.1771-1G=) c.2866-1G= (n.2866-1G=) n.281-1G= c.1022-1738G= c.*162-1G= (n.*162-1G=) n.3805-1G= n.2406-1G= c.2917-1G= (n.2917-1G=) n.407-1G= c.2965-1G= (n.2965-1G=) c.3025-1G= (n.3025-1G=) c.2575-1G= (n.2575-1G=) c.877-1G= (n.877-1G=) c.877-1738G= (n.877-1738G=) c.2926-1G= (n.2926-1G=) c.3061-1738G= (n.3061-1738G=) c.2647-1G= (n.2647-1G=) c.2731-1738G= (n.2731-1738G=) c.1729-1G= (n.1729-1G=) n.3280-1G= | |
13 | g.51944292C>G | CA388030821 | ATP7B | c.*894-1738G>C (n.*894-1738G>C) c.*1805-1G>C (n.*1805-1G>C) c.2440-1G>C (n.2440-1G>C) c.3061-1G>C (n.3061-1G>C) c.2728-1G>C (n.2728-1G>C) c.2809-1G>C (n.2809-1G>C) c.2827-1G>C (n.2827-1G>C) n.3199G>C n.3424-1G>C c.1996-1G>C (n.1996-1G>C) c.1771-1G>C (n.1771-1G>C) c.2866-1G>C (n.2866-1G>C) n.281-1G>C c.1022-1738G>C c.*162-1G>C (n.*162-1G>C) n.3805-1G>C n.2406-1G>C c.2917-1G>C (n.2917-1G>C) n.407-1G>C c.2965-1G>C (n.2965-1G>C) c.3025-1G>C (n.3025-1G>C) c.2575-1G>C (n.2575-1G>C) c.877-1G>C (n.877-1G>C) c.877-1738G>C (n.877-1738G>C) c.2926-1G>C (n.2926-1G>C) c.3061-1738G>C (n.3061-1738G>C) c.2647-1G>C (n.2647-1G>C) c.2731-1738G>C (n.2731-1738G>C) c.1729-1G>C (n.1729-1G>C) n.3280-1G>C | gnomAD v4 |
13 | g.51944292C>T | CA6988815 | ATP7B | c.*894-1738G>A (n.*894-1738G>A) c.*1805-1G>A (n.*1805-1G>A) c.2440-1G>A (n.2440-1G>A) c.3061-1G>A (n.3061-1G>A) c.2728-1G>A (n.2728-1G>A) c.2809-1G>A (n.2809-1G>A) c.2827-1G>A (n.2827-1G>A) n.3199G>A n.3424-1G>A c.1996-1G>A (n.1996-1G>A) c.1771-1G>A (n.1771-1G>A) c.2866-1G>A (n.2866-1G>A) n.281-1G>A c.1022-1738G>A c.*162-1G>A (n.*162-1G>A) n.3805-1G>A n.2406-1G>A c.2917-1G>A (n.2917-1G>A) n.407-1G>A c.2965-1G>A (n.2965-1G>A) c.3025-1G>A (n.3025-1G>A) c.2575-1G>A (n.2575-1G>A) c.877-1G>A (n.877-1G>A) c.877-1738G>A (n.877-1738G>A) c.2926-1G>A (n.2926-1G>A) c.3061-1738G>A (n.3061-1738G>A) c.2647-1G>A (n.2647-1G>A) c.2731-1738G>A (n.2731-1738G>A) c.1729-1G>A (n.1729-1G>A) n.3280-1G>A | ClinVar dbSNP ExAC gnomAD v4 |
13 | g.51944293T>A | CA388030831 | ATP7B | c.*894-1739A>T (n.*894-1739A>T) c.*1805-2A>T (n.*1805-2A>T) c.2440-2A>T (n.2440-2A>T) c.3061-2A>T (n.3061-2A>T) c.2728-2A>T (n.2728-2A>T) c.2809-2A>T (n.2809-2A>T) c.2827-2A>T (n.2827-2A>T) n.3198A>T n.3424-2A>T c.1996-2A>T (n.1996-2A>T) c.1771-2A>T (n.1771-2A>T) c.2866-2A>T (n.2866-2A>T) n.281-2A>T c.1022-1739A>T c.*162-2A>T (n.*162-2A>T) n.3805-2A>T n.2406-2A>T c.2917-2A>T (n.2917-2A>T) n.407-2A>T c.2965-2A>T (n.2965-2A>T) c.3025-2A>T (n.3025-2A>T) c.2575-2A>T (n.2575-2A>T) c.877-2A>T (n.877-2A>T) c.877-1739A>T (n.877-1739A>T) c.2926-2A>T (n.2926-2A>T) c.3061-1739A>T (n.3061-1739A>T) c.2647-2A>T (n.2647-2A>T) c.2731-1739A>T (n.2731-1739A>T) c.1729-2A>T (n.1729-2A>T) n.3280-2A>T | |
13 | g.51944293T>C | CA388030847 | ATP7B | c.*894-1739A>G (n.*894-1739A>G) c.*1805-2A>G (n.*1805-2A>G) c.2440-2A>G (n.2440-2A>G) c.3061-2A>G (n.3061-2A>G) c.2728-2A>G (n.2728-2A>G) c.2809-2A>G (n.2809-2A>G) c.2827-2A>G (n.2827-2A>G) n.3198A>G n.3424-2A>G c.1996-2A>G (n.1996-2A>G) c.1771-2A>G (n.1771-2A>G) c.2866-2A>G (n.2866-2A>G) n.281-2A>G c.1022-1739A>G c.*162-2A>G (n.*162-2A>G) n.3805-2A>G n.2406-2A>G c.2917-2A>G (n.2917-2A>G) n.407-2A>G c.2965-2A>G (n.2965-2A>G) c.3025-2A>G (n.3025-2A>G) c.2575-2A>G (n.2575-2A>G) c.877-2A>G (n.877-2A>G) c.877-1739A>G (n.877-1739A>G) c.2926-2A>G (n.2926-2A>G) c.3061-1739A>G (n.3061-1739A>G) c.2647-2A>G (n.2647-2A>G) c.2731-1739A>G (n.2731-1739A>G) c.1729-2A>G (n.1729-2A>G) n.3280-2A>G | ClinVar dbSNP |
13 | g.51944293T>G | CA388030854 | ATP7B | c.*894-1739A>C (n.*894-1739A>C) c.*1805-2A>C (n.*1805-2A>C) c.2440-2A>C (n.2440-2A>C) c.3061-2A>C (n.3061-2A>C) c.2728-2A>C (n.2728-2A>C) c.2809-2A>C (n.2809-2A>C) c.2827-2A>C (n.2827-2A>C) n.3198A>C n.3424-2A>C c.1996-2A>C (n.1996-2A>C) c.1771-2A>C (n.1771-2A>C) c.2866-2A>C (n.2866-2A>C) n.281-2A>C c.1022-1739A>C c.*162-2A>C (n.*162-2A>C) n.3805-2A>C n.2406-2A>C c.2917-2A>C (n.2917-2A>C) n.407-2A>C c.2965-2A>C (n.2965-2A>C) c.3025-2A>C (n.3025-2A>C) c.2575-2A>C (n.2575-2A>C) c.877-2A>C (n.877-2A>C) c.877-1739A>C (n.877-1739A>C) c.2926-2A>C (n.2926-2A>C) c.3061-1739A>C (n.3061-1739A>C) c.2647-2A>C (n.2647-2A>C) c.2731-1739A>C (n.2731-1739A>C) c.1729-2A>C (n.1729-2A>C) n.3280-2A>C | |
13 | g.51944293T= | CA2091564298 | ATP7B | c.*894-1739A= (n.*894-1739A=) c.*1805-2A= (n.*1805-2A=) c.2440-2A= (n.2440-2A=) c.3061-2A= (n.3061-2A=) c.2728-2A= (n.2728-2A=) c.2809-2A= (n.2809-2A=) c.2827-2A= (n.2827-2A=) n.3198A= n.3424-2A= c.1996-2A= (n.1996-2A=) c.1771-2A= (n.1771-2A=) c.2866-2A= (n.2866-2A=) n.281-2A= c.1022-1739A= c.*162-2A= (n.*162-2A=) n.3805-2A= n.2406-2A= c.2917-2A= (n.2917-2A=) n.407-2A= c.2965-2A= (n.2965-2A=) c.3025-2A= (n.3025-2A=) c.2575-2A= (n.2575-2A=) c.877-2A= (n.877-2A=) c.877-1739A= (n.877-1739A=) c.2926-2A= (n.2926-2A=) c.3061-1739A= (n.3061-1739A=) c.2647-2A= (n.2647-2A=) c.2731-1739A= (n.2731-1739A=) c.1729-2A= (n.1729-2A=) n.3280-2A= | |
13 | g.51944294G>C | CA2623116515 | ATP7B | c.*894-1740C>G (n.*894-1740C>G) c.*1805-3C>G (n.*1805-3C>G) c.2440-3C>G (n.2440-3C>G) c.3061-3C>G (n.3061-3C>G) c.2728-3C>G (n.2728-3C>G) c.2809-3C>G (n.2809-3C>G) c.2827-3C>G (n.2827-3C>G) n.3197C>G n.3424-3C>G c.1996-3C>G (n.1996-3C>G) c.1771-3C>G (n.1771-3C>G) c.2866-3C>G (n.2866-3C>G) n.281-3C>G c.1022-1740C>G c.*162-3C>G (n.*162-3C>G) n.3805-3C>G n.2406-3C>G c.2917-3C>G (n.2917-3C>G) n.407-3C>G c.2965-3C>G (n.2965-3C>G) c.3025-3C>G (n.3025-3C>G) c.2575-3C>G (n.2575-3C>G) c.877-3C>G (n.877-3C>G) c.877-1740C>G (n.877-1740C>G) c.2926-3C>G (n.2926-3C>G) c.3061-1740C>G (n.3061-1740C>G) c.2647-3C>G (n.2647-3C>G) c.2731-1740C>G (n.2731-1740C>G) c.1729-3C>G (n.1729-3C>G) n.3280-3C>G | gnomAD v4 |
13 | g.51944294G>T | CA2695218757 | ATP7B | c.*894-1740C>A (n.*894-1740C>A) c.*1805-3C>A (n.*1805-3C>A) c.2440-3C>A (n.2440-3C>A) c.3061-3C>A (n.3061-3C>A) c.2728-3C>A (n.2728-3C>A) c.2809-3C>A (n.2809-3C>A) c.2827-3C>A (n.2827-3C>A) n.3197C>A n.3424-3C>A c.1996-3C>A (n.1996-3C>A) c.1771-3C>A (n.1771-3C>A) c.2866-3C>A (n.2866-3C>A) n.281-3C>A c.1022-1740C>A c.*162-3C>A (n.*162-3C>A) n.3805-3C>A n.2406-3C>A c.2917-3C>A (n.2917-3C>A) n.407-3C>A c.2965-3C>A (n.2965-3C>A) c.3025-3C>A (n.3025-3C>A) c.2575-3C>A (n.2575-3C>A) c.877-3C>A (n.877-3C>A) c.877-1740C>A (n.877-1740C>A) c.2926-3C>A (n.2926-3C>A) c.3061-1740C>A (n.3061-1740C>A) c.2647-3C>A (n.2647-3C>A) c.2731-1740C>A (n.2731-1740C>A) c.1729-3C>A (n.1729-3C>A) n.3280-3C>A | ClinVar |
13 | g.51944295C>A | CA2739277657 | ATP7B | c.*894-1741G>T (n.*894-1741G>T) c.*1805-4G>T (n.*1805-4G>T) c.2440-4G>T (n.2440-4G>T) c.3061-4G>T (n.3061-4G>T) c.2728-4G>T (n.2728-4G>T) c.2809-4G>T (n.2809-4G>T) c.2827-4G>T (n.2827-4G>T) n.3196G>T n.3424-4G>T c.1996-4G>T (n.1996-4G>T) c.1771-4G>T (n.1771-4G>T) c.2866-4G>T (n.2866-4G>T) n.281-4G>T c.1022-1741G>T c.*162-4G>T (n.*162-4G>T) n.3805-4G>T n.2406-4G>T c.2917-4G>T (n.2917-4G>T) n.407-4G>T c.2965-4G>T (n.2965-4G>T) c.3025-4G>T (n.3025-4G>T) c.2575-4G>T (n.2575-4G>T) c.877-4G>T (n.877-4G>T) c.877-1741G>T (n.877-1741G>T) c.2926-4G>T (n.2926-4G>T) c.3061-1741G>T (n.3061-1741G>T) c.2647-4G>T (n.2647-4G>T) c.2731-1741G>T (n.2731-1741G>T) c.1729-4G>T (n.1729-4G>T) n.3280-4G>T | ClinVar |
13 | g.51944296del | CA2623116516 | ATP7B | c.*894-1741del (n.*894-1741del) c.*1805-4del (n.*1805-4del) c.2440-4del (n.2440-4del) c.3061-4del (n.3061-4del) c.2728-4del (n.2728-4del) c.2809-4del (n.2809-4del) c.2827-4del (n.2827-4del) n.3196del n.3424-4del c.1996-4del (n.1996-4del) c.1771-4del (n.1771-4del) c.2866-4del (n.2866-4del) n.281-4del c.1022-1741del c.*162-4del (n.*162-4del) n.3805-4del n.2406-4del c.2917-4del (n.2917-4del) n.407-4del c.2965-4del (n.2965-4del) c.3025-4del (n.3025-4del) c.2575-4del (n.2575-4del) c.877-4del (n.877-4del) c.877-1741del (n.877-1741del) c.2926-4del (n.2926-4del) c.3061-1741del (n.3061-1741del) c.2647-4del (n.2647-4del) c.2731-1741del (n.2731-1741del) c.1729-4del (n.1729-4del) n.3280-4del | gnomAD v4 |
13 | g.51944296C>A | CA250080337 | ATP7B | c.*894-1742G>T (n.*894-1742G>T) c.*1805-5G>T (n.*1805-5G>T) c.2440-5G>T (n.2440-5G>T) c.3061-5G>T (n.3061-5G>T) c.2728-5G>T (n.2728-5G>T) c.2809-5G>T (n.2809-5G>T) c.2827-5G>T (n.2827-5G>T) n.3195G>T n.3424-5G>T c.1996-5G>T (n.1996-5G>T) c.1771-5G>T (n.1771-5G>T) c.2866-5G>T (n.2866-5G>T) n.281-5G>T c.1022-1742G>T c.*162-5G>T (n.*162-5G>T) n.3805-5G>T n.2406-5G>T c.2917-5G>T (n.2917-5G>T) n.407-5G>T c.2965-5G>T (n.2965-5G>T) c.3025-5G>T (n.3025-5G>T) c.2575-5G>T (n.2575-5G>T) c.877-5G>T (n.877-5G>T) c.877-1742G>T (n.877-1742G>T) c.2926-5G>T (n.2926-5G>T) c.3061-1742G>T (n.3061-1742G>T) c.2647-5G>T (n.2647-5G>T) c.2731-1742G>T (n.2731-1742G>T) c.1729-5G>T (n.1729-5G>T) n.3280-5G>T | dbSNP |
13 | g.51944296C= | CA2091564306 | ATP7B | c.*894-1742G= (n.*894-1742G=) c.*1805-5G= (n.*1805-5G=) c.2440-5G= (n.2440-5G=) c.3061-5G= (n.3061-5G=) c.2728-5G= (n.2728-5G=) c.2809-5G= (n.2809-5G=) c.2827-5G= (n.2827-5G=) n.3195G= n.3424-5G= c.1996-5G= (n.1996-5G=) c.1771-5G= (n.1771-5G=) c.2866-5G= (n.2866-5G=) n.281-5G= c.1022-1742G= c.*162-5G= (n.*162-5G=) n.3805-5G= n.2406-5G= c.2917-5G= (n.2917-5G=) n.407-5G= c.2965-5G= (n.2965-5G=) c.3025-5G= (n.3025-5G=) c.2575-5G= (n.2575-5G=) c.877-5G= (n.877-5G=) c.877-1742G= (n.877-1742G=) c.2926-5G= (n.2926-5G=) c.3061-1742G= (n.3061-1742G=) c.2647-5G= (n.2647-5G=) c.2731-1742G= (n.2731-1742G=) c.1729-5G= (n.1729-5G=) n.3280-5G= | |
13 | g.51944296C>G | CA2091564304 | ATP7B | c.*894-1742G>C (n.*894-1742G>C) c.*1805-5G>C (n.*1805-5G>C) c.2440-5G>C (n.2440-5G>C) c.3061-5G>C (n.3061-5G>C) c.2728-5G>C (n.2728-5G>C) c.2809-5G>C (n.2809-5G>C) c.2827-5G>C (n.2827-5G>C) n.3195G>C n.3424-5G>C c.1996-5G>C (n.1996-5G>C) c.1771-5G>C (n.1771-5G>C) c.2866-5G>C (n.2866-5G>C) n.281-5G>C c.1022-1742G>C c.*162-5G>C (n.*162-5G>C) n.3805-5G>C n.2406-5G>C c.2917-5G>C (n.2917-5G>C) n.407-5G>C c.2965-5G>C (n.2965-5G>C) c.3025-5G>C (n.3025-5G>C) c.2575-5G>C (n.2575-5G>C) c.877-5G>C (n.877-5G>C) c.877-1742G>C (n.877-1742G>C) c.2926-5G>C (n.2926-5G>C) c.3061-1742G>C (n.3061-1742G>C) c.2647-5G>C (n.2647-5G>C) c.2731-1742G>C (n.2731-1742G>C) c.1729-5G>C (n.1729-5G>C) n.3280-5G>C | dbSNP gnomAD v4 |
13 | g.51944296C>T | CA2623116518 | ATP7B | c.*894-1742G>A (n.*894-1742G>A) c.*1805-5G>A (n.*1805-5G>A) c.2440-5G>A (n.2440-5G>A) c.3061-5G>A (n.3061-5G>A) c.2728-5G>A (n.2728-5G>A) c.2809-5G>A (n.2809-5G>A) c.2827-5G>A (n.2827-5G>A) n.3195G>A n.3424-5G>A c.1996-5G>A (n.1996-5G>A) c.1771-5G>A (n.1771-5G>A) c.2866-5G>A (n.2866-5G>A) n.281-5G>A c.1022-1742G>A c.*162-5G>A (n.*162-5G>A) n.3805-5G>A n.2406-5G>A c.2917-5G>A (n.2917-5G>A) n.407-5G>A c.2965-5G>A (n.2965-5G>A) c.3025-5G>A (n.3025-5G>A) c.2575-5G>A (n.2575-5G>A) c.877-5G>A (n.877-5G>A) c.877-1742G>A (n.877-1742G>A) c.2926-5G>A (n.2926-5G>A) c.3061-1742G>A (n.3061-1742G>A) c.2647-5G>A (n.2647-5G>A) c.2731-1742G>A (n.2731-1742G>A) c.1729-5G>A (n.1729-5G>A) n.3280-5G>A | gnomAD v4 |
13 | g.51944301dup | CA2580087659 | ATP7B | c.*894-1743dup (n.*894-1743dup) c.*1805-6dup (n.*1805-6dup) c.2440-6dup (n.2440-6dup) c.3061-6dup (n.3061-6dup) c.2728-6dup (n.2728-6dup) c.2809-6dup (n.2809-6dup) c.2827-6dup (n.2827-6dup) n.3194dup n.3424-6dup c.1996-6dup (n.1996-6dup) c.1771-6dup (n.1771-6dup) c.2866-6dup (n.2866-6dup) n.281-6dup c.1022-1743dup c.*162-6dup (n.*162-6dup) n.3805-6dup n.2406-6dup c.2917-6dup (n.2917-6dup) n.407-6dup c.2965-6dup (n.2965-6dup) c.3025-6dup (n.3025-6dup) c.2575-6dup (n.2575-6dup) c.877-6dup (n.877-6dup) c.877-1743dup (n.877-1743dup) c.2926-6dup (n.2926-6dup) c.3061-1743dup (n.3061-1743dup) c.2647-6dup (n.2647-6dup) c.2731-1743dup (n.2731-1743dup) c.1729-6dup (n.1729-6dup) n.3280-6dup | ClinVar |
13 | g.51944301del | CA2623116523 | ATP7B | c.*894-1743del (n.*894-1743del) c.*1805-6del (n.*1805-6del) c.2440-6del (n.2440-6del) c.3061-6del (n.3061-6del) c.2728-6del (n.2728-6del) c.2809-6del (n.2809-6del) c.2827-6del (n.2827-6del) n.3194del n.3424-6del c.1996-6del (n.1996-6del) c.1771-6del (n.1771-6del) c.2866-6del (n.2866-6del) n.281-6del c.1022-1743del c.*162-6del (n.*162-6del) n.3805-6del n.2406-6del c.2917-6del (n.2917-6del) n.407-6del c.2965-6del (n.2965-6del) c.3025-6del (n.3025-6del) c.2575-6del (n.2575-6del) c.877-6del (n.877-6del) c.877-1743del (n.877-1743del) c.2926-6del (n.2926-6del) c.3061-1743del (n.3061-1743del) c.2647-6del (n.2647-6del) c.2731-1743del (n.2731-1743del) c.1729-6del (n.1729-6del) n.3280-6del | gnomAD v4 |
13 | g.51944298A>G | CA2623116525 | ATP7B | c.*894-1744T>C (n.*894-1744T>C) c.*1805-7T>C (n.*1805-7T>C) c.2440-7T>C (n.2440-7T>C) c.3061-7T>C (n.3061-7T>C) c.2728-7T>C (n.2728-7T>C) c.2809-7T>C (n.2809-7T>C) c.2827-7T>C (n.2827-7T>C) n.3193T>C n.3424-7T>C c.1996-7T>C (n.1996-7T>C) c.1771-7T>C (n.1771-7T>C) c.2866-7T>C (n.2866-7T>C) n.281-7T>C c.1022-1744T>C c.*162-7T>C (n.*162-7T>C) n.3805-7T>C n.2406-7T>C c.2917-7T>C (n.2917-7T>C) n.407-7T>C c.2965-7T>C (n.2965-7T>C) c.3025-7T>C (n.3025-7T>C) c.2575-7T>C (n.2575-7T>C) c.877-7T>C (n.877-7T>C) c.877-1744T>C (n.877-1744T>C) c.2926-7T>C (n.2926-7T>C) c.3061-1744T>C (n.3061-1744T>C) c.2647-7T>C (n.2647-7T>C) c.2731-1744T>C (n.2731-1744T>C) c.1729-7T>C (n.1729-7T>C) n.3280-7T>C | gnomAD v4 |
13 | g.51944299A>C | CA2623116526 | ATP7B | c.*894-1745T>G (n.*894-1745T>G) c.*1805-8T>G (n.*1805-8T>G) c.2440-8T>G (n.2440-8T>G) c.3061-8T>G (n.3061-8T>G) c.2728-8T>G (n.2728-8T>G) c.2809-8T>G (n.2809-8T>G) c.2827-8T>G (n.2827-8T>G) n.3192T>G n.3424-8T>G c.1996-8T>G (n.1996-8T>G) c.1771-8T>G (n.1771-8T>G) c.2866-8T>G (n.2866-8T>G) n.281-8T>G c.1022-1745T>G c.*162-8T>G (n.*162-8T>G) n.3805-8T>G n.2406-8T>G c.2917-8T>G (n.2917-8T>G) n.407-8T>G c.2965-8T>G (n.2965-8T>G) c.3025-8T>G (n.3025-8T>G) c.2575-8T>G (n.2575-8T>G) c.877-8T>G (n.877-8T>G) c.877-1745T>G (n.877-1745T>G) c.2926-8T>G (n.2926-8T>G) c.3061-1745T>G (n.3061-1745T>G) c.2647-8T>G (n.2647-8T>G) c.2731-1745T>G (n.2731-1745T>G) c.1729-8T>G (n.1729-8T>G) n.3280-8T>G | gnomAD v4 |
13 | g.51944299A>G | CA2580087660 | ATP7B | c.*894-1745T>C (n.*894-1745T>C) c.*1805-8T>C (n.*1805-8T>C) c.2440-8T>C (n.2440-8T>C) c.3061-8T>C (n.3061-8T>C) c.2728-8T>C (n.2728-8T>C) c.2809-8T>C (n.2809-8T>C) c.2827-8T>C (n.2827-8T>C) n.3192T>C n.3424-8T>C c.1996-8T>C (n.1996-8T>C) c.1771-8T>C (n.1771-8T>C) c.2866-8T>C (n.2866-8T>C) n.281-8T>C c.1022-1745T>C c.*162-8T>C (n.*162-8T>C) n.3805-8T>C n.2406-8T>C c.2917-8T>C (n.2917-8T>C) n.407-8T>C c.2965-8T>C (n.2965-8T>C) c.3025-8T>C (n.3025-8T>C) c.2575-8T>C (n.2575-8T>C) c.877-8T>C (n.877-8T>C) c.877-1745T>C (n.877-1745T>C) c.2926-8T>C (n.2926-8T>C) c.3061-1745T>C (n.3061-1745T>C) c.2647-8T>C (n.2647-8T>C) c.2731-1745T>C (n.2731-1745T>C) c.1729-8T>C (n.1729-8T>C) n.3280-8T>C | ClinVar |
13 | g.51944302C>T | CA2575420448 | ATP7B | c.*894-1748G>A (n.*894-1748G>A) c.*1805-11G>A (n.*1805-11G>A) c.2440-11G>A (n.2440-11G>A) c.3061-11G>A (n.3061-11G>A) c.2728-11G>A (n.2728-11G>A) c.2809-11G>A (n.2809-11G>A) c.2827-11G>A (n.2827-11G>A) n.3189G>A n.3424-11G>A c.1996-11G>A (n.1996-11G>A) c.1771-11G>A (n.1771-11G>A) c.2866-11G>A (n.2866-11G>A) n.281-11G>A c.1022-1748G>A c.*162-11G>A (n.*162-11G>A) n.3805-11G>A n.2406-11G>A c.2917-11G>A (n.2917-11G>A) n.407-11G>A c.2965-11G>A (n.2965-11G>A) c.3025-11G>A (n.3025-11G>A) c.2575-11G>A (n.2575-11G>A) c.877-11G>A (n.877-11G>A) c.877-1748G>A (n.877-1748G>A) c.2926-11G>A (n.2926-11G>A) c.3061-1748G>A (n.3061-1748G>A) c.2647-11G>A (n.2647-11G>A) c.2731-1748G>A (n.2731-1748G>A) c.1729-11G>A (n.1729-11G>A) n.3280-11G>A |