Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.51949663_51949666del | CA2695218775 | ATP7B | c.*695_*698del (n.*695_*698del) c.*1606_*1609del (n.*1606_*1609del) c.2244+342_2244+345del (n.2244+342_2244+345del) c.2862_2865del (p.Phe954LeufsTer12) c.2529_2532del (p.Phe843LeufsTer12) c.2610_2613del (p.Phe870LeufsTer12) c.2628_2631del (p.Phe876LeufsTer12) n.42_45del c.1800+342_1800+345del (n.1800+342_1800+345del) c.1572_1575del (p.Phe524LeufsTer12) c.2862_2865del (p.Phe954LeufsTer2) c.823_826del c.2628_2631del (p.Phe876LeufsTer7) n.3609+51_3609+54del n.2207_2210del c.2718_2721del (p.Phe906LeufsTer12) n.212-3187_212-3184del c.2766_2769del (p.Phe922LeufsTer12) c.2826_2829del (p.Phe942LeufsTer12) c.2376_2379del (p.Phe792LeufsTer12) c.678_681del (p.Phe226LeufsTer12) c.2730+342_2730+345del (n.2730+342_2730+345del) c.2448_2451del (p.Phe816LeufsTer12) c.1530_1533del (p.Phe510LeufsTer12) n.3081_3084del | |
13 | g.51949666A>C | CA388033181 | ATP7B | c.*694T>G (n.*694T>G) c.*1605T>G (n.*1605T>G) c.2244+341T>G (n.2244+341T>G) c.2861T>G (p.Phe954Cys) c.2528T>G (p.Phe843Cys) c.2609T>G (p.Phe870Cys) c.2627T>G (p.Phe876Cys) n.41T>G c.1800+341T>G (n.1800+341T>G) c.1571T>G (p.Phe524Cys) c.822T>G n.3609+50T>G n.2206T>G c.2717T>G (p.Phe906Cys) n.212-3188T>G c.2765T>G (p.Phe922Cys) c.2825T>G (p.Phe942Cys) c.2375T>G (p.Phe792Cys) c.677T>G (p.Phe226Cys) c.2730+341T>G (n.2730+341T>G) c.2447T>G (p.Phe816Cys) c.1529T>G (p.Phe510Cys) n.3080T>G | |
13 | g.51949666A>G | CA388033183 | ATP7B | c.*694T>C (n.*694T>C) c.*1605T>C (n.*1605T>C) c.2244+341T>C (n.2244+341T>C) c.2861T>C (p.Phe954Ser) c.2528T>C (p.Phe843Ser) c.2609T>C (p.Phe870Ser) c.2627T>C (p.Phe876Ser) n.41T>C c.1800+341T>C (n.1800+341T>C) c.1571T>C (p.Phe524Ser) c.822T>C n.3609+50T>C n.2206T>C c.2717T>C (p.Phe906Ser) n.212-3188T>C c.2765T>C (p.Phe922Ser) c.2825T>C (p.Phe942Ser) c.2375T>C (p.Phe792Ser) c.677T>C (p.Phe226Ser) c.2730+341T>C (n.2730+341T>C) c.2447T>C (p.Phe816Ser) c.1529T>C (p.Phe510Ser) n.3080T>C | |
13 | g.51949666A>T | CA388033185 | ATP7B | c.*694T>A (n.*694T>A) c.*1605T>A (n.*1605T>A) c.2244+341T>A (n.2244+341T>A) c.2861T>A (p.Phe954Tyr) c.2528T>A (p.Phe843Tyr) c.2609T>A (p.Phe870Tyr) c.2627T>A (p.Phe876Tyr) n.41T>A c.1800+341T>A (n.1800+341T>A) c.1571T>A (p.Phe524Tyr) c.822T>A n.3609+50T>A n.2206T>A c.2717T>A (p.Phe906Tyr) n.212-3188T>A c.2765T>A (p.Phe922Tyr) c.2825T>A (p.Phe942Tyr) c.2375T>A (p.Phe792Tyr) c.677T>A (p.Phe226Tyr) c.2730+341T>A (n.2730+341T>A) c.2447T>A (p.Phe816Tyr) c.1529T>A (p.Phe510Tyr) n.3080T>A | |
13 | g.51949667A>C | CA388033187 | ATP7B | c.*693T>G (n.*693T>G) c.*1604T>G (n.*1604T>G) c.2244+340T>G (n.2244+340T>G) c.2860T>G (p.Phe954Val) c.2527T>G (p.Phe843Val) c.2608T>G (p.Phe870Val) c.2626T>G (p.Phe876Val) n.40T>G c.1800+340T>G (n.1800+340T>G) c.1570T>G (p.Phe524Val) c.821T>G n.3609+49T>G n.2205T>G c.2716T>G (p.Phe906Val) n.212-3189T>G c.2764T>G (p.Phe922Val) c.2824T>G (p.Phe942Val) c.2374T>G (p.Phe792Val) c.676T>G (p.Phe226Val) c.2730+340T>G (n.2730+340T>G) c.2446T>G (p.Phe816Val) c.1528T>G (p.Phe510Val) n.3079T>G | |
13 | g.51949667A>G | CA388033189 | ATP7B | c.*693T>C (n.*693T>C) c.*1604T>C (n.*1604T>C) c.2244+340T>C (n.2244+340T>C) c.2860T>C (p.Phe954Leu) c.2527T>C (p.Phe843Leu) c.2608T>C (p.Phe870Leu) c.2626T>C (p.Phe876Leu) n.40T>C c.1800+340T>C (n.1800+340T>C) c.1570T>C (p.Phe524Leu) c.821T>C n.3609+49T>C n.2205T>C c.2716T>C (p.Phe906Leu) n.212-3189T>C c.2764T>C (p.Phe922Leu) c.2824T>C (p.Phe942Leu) c.2374T>C (p.Phe792Leu) c.676T>C (p.Phe226Leu) c.2730+340T>C (n.2730+340T>C) c.2446T>C (p.Phe816Leu) c.1528T>C (p.Phe510Leu) n.3079T>C | |
13 | g.51949667A>T | CA388033191 | ATP7B | c.*693T>A (n.*693T>A) c.*1604T>A (n.*1604T>A) c.2244+340T>A (n.2244+340T>A) c.2860T>A (p.Phe954Ile) c.2527T>A (p.Phe843Ile) c.2608T>A (p.Phe870Ile) c.2626T>A (p.Phe876Ile) n.40T>A c.1800+340T>A (n.1800+340T>A) c.1570T>A (p.Phe524Ile) c.821T>A n.3609+49T>A n.2205T>A c.2716T>A (p.Phe906Ile) n.212-3189T>A c.2764T>A (p.Phe922Ile) c.2824T>A (p.Phe942Ile) c.2374T>A (p.Phe792Ile) c.676T>A (p.Phe226Ile) c.2730+340T>A (n.2730+340T>A) c.2446T>A (p.Phe816Ile) c.1528T>A (p.Phe510Ile) n.3079T>A | gnomAD v4 |
13 | g.51949668G>A | CA6988895 | ATP7B | c.*692C>T (n.*692C>T) c.*1603C>T (n.*1603C>T) c.2244+339C>T (n.2244+339C>T) c.2859C>T (p.Tyr953=) c.2526C>T (p.Tyr842=) c.2607C>T (p.Tyr869=) c.2625C>T (p.Tyr875=) n.39C>T c.1800+339C>T (n.1800+339C>T) c.1569C>T (p.Tyr523=) c.820C>T n.3609+48C>T n.2204C>T c.2715C>T (p.Tyr905=) n.212-3190C>T c.2763C>T (p.Tyr921=) c.2823C>T (p.Tyr941=) c.2373C>T (p.Tyr791=) c.675C>T (p.Tyr225=) c.2730+339C>T (n.2730+339C>T) c.2445C>T (p.Tyr815=) c.1527C>T (p.Tyr509=) n.3078C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51949668G>C | CA388033194 | ATP7B | c.*692C>G (n.*692C>G) c.*1603C>G (n.*1603C>G) c.2244+339C>G (n.2244+339C>G) c.2859C>G (p.Tyr953Ter) c.2526C>G (p.Tyr842Ter) c.2607C>G (p.Tyr869Ter) c.2625C>G (p.Tyr875Ter) n.39C>G c.1800+339C>G (n.1800+339C>G) c.1569C>G (p.Tyr523Ter) c.820C>G n.3609+48C>G n.2204C>G c.2715C>G (p.Tyr905Ter) n.212-3190C>G c.2763C>G (p.Tyr921Ter) c.2823C>G (p.Tyr941Ter) c.2373C>G (p.Tyr791Ter) c.675C>G (p.Tyr225Ter) c.2730+339C>G (n.2730+339C>G) c.2445C>G (p.Tyr815Ter) c.1527C>G (p.Tyr509Ter) n.3078C>G | gnomAD v4 |
13 | g.51949668G= | CA2091541278 | ATP7B | c.*692C= (n.*692C=) c.*1603C= (n.*1603C=) c.2244+339C= (n.2244+339C=) c.2859C= (p.Tyr953=) c.2526C= (p.Tyr842=) c.2607C= (p.Tyr869=) c.2625C= (p.Tyr875=) n.39C= c.1800+339C= (n.1800+339C=) c.1569C= (p.Tyr523=) c.820C= n.3609+48C= n.2204C= c.2715C= (p.Tyr905=) n.212-3190C= c.2763C= (p.Tyr921=) c.2823C= (p.Tyr941=) c.2373C= (p.Tyr791=) c.675C= (p.Tyr225=) c.2730+339C= (n.2730+339C=) c.2445C= (p.Tyr815=) c.1527C= (p.Tyr509=) n.3078C= | |
13 | g.51949668G>T | CA388033205 | ATP7B | c.*692C>A (n.*692C>A) c.*1603C>A (n.*1603C>A) c.2244+339C>A (n.2244+339C>A) c.2859C>A (p.Tyr953Ter) c.2526C>A (p.Tyr842Ter) c.2607C>A (p.Tyr869Ter) c.2625C>A (p.Tyr875Ter) n.39C>A c.1800+339C>A (n.1800+339C>A) c.1569C>A (p.Tyr523Ter) c.820C>A n.3609+48C>A n.2204C>A c.2715C>A (p.Tyr905Ter) n.212-3190C>A c.2763C>A (p.Tyr921Ter) c.2823C>A (p.Tyr941Ter) c.2373C>A (p.Tyr791Ter) c.675C>A (p.Tyr225Ter) c.2730+339C>A (n.2730+339C>A) c.2445C>A (p.Tyr815Ter) c.1527C>A (p.Tyr509Ter) n.3078C>A | |
13 | g.51949669T>A | CA388033208 | ATP7B | c.*691A>T (n.*691A>T) c.*1602A>T (n.*1602A>T) c.2244+338A>T (n.2244+338A>T) c.2858A>T (p.Tyr953Phe) c.2525A>T (p.Tyr842Phe) c.2606A>T (p.Tyr869Phe) c.2624A>T (p.Tyr875Phe) n.38A>T c.1800+338A>T (n.1800+338A>T) c.1568A>T (p.Tyr523Phe) c.819A>T n.3609+47A>T n.2203A>T c.2714A>T (p.Tyr905Phe) n.212-3191A>T c.2762A>T (p.Tyr921Phe) c.2822A>T (p.Tyr941Phe) c.2372A>T (p.Tyr791Phe) c.674A>T (p.Tyr225Phe) c.2730+338A>T (n.2730+338A>T) c.2444A>T (p.Tyr815Phe) c.1526A>T (p.Tyr509Phe) n.3077A>T | |
13 | g.51949669T>C | CA388033210 | ATP7B | c.*691A>G (n.*691A>G) c.*1602A>G (n.*1602A>G) c.2244+338A>G (n.2244+338A>G) c.2858A>G (p.Tyr953Cys) c.2525A>G (p.Tyr842Cys) c.2606A>G (p.Tyr869Cys) c.2624A>G (p.Tyr875Cys) n.38A>G c.1800+338A>G (n.1800+338A>G) c.1568A>G (p.Tyr523Cys) c.819A>G n.3609+47A>G n.2203A>G c.2714A>G (p.Tyr905Cys) n.212-3191A>G c.2762A>G (p.Tyr921Cys) c.2822A>G (p.Tyr941Cys) c.2372A>G (p.Tyr791Cys) c.674A>G (p.Tyr225Cys) c.2730+338A>G (n.2730+338A>G) c.2444A>G (p.Tyr815Cys) c.1526A>G (p.Tyr509Cys) n.3077A>G | |
13 | g.51949669T>G | CA6988896 | ATP7B | c.*691A>C (n.*691A>C) c.*1602A>C (n.*1602A>C) c.2244+338A>C (n.2244+338A>C) c.2858A>C (p.Tyr953Ser) c.2525A>C (p.Tyr842Ser) c.2606A>C (p.Tyr869Ser) c.2624A>C (p.Tyr875Ser) n.38A>C c.1800+338A>C (n.1800+338A>C) c.1568A>C (p.Tyr523Ser) c.819A>C n.3609+47A>C n.2203A>C c.2714A>C (p.Tyr905Ser) n.212-3191A>C c.2762A>C (p.Tyr921Ser) c.2822A>C (p.Tyr941Ser) c.2372A>C (p.Tyr791Ser) c.674A>C (p.Tyr225Ser) c.2730+338A>C (n.2730+338A>C) c.2444A>C (p.Tyr815Ser) c.1526A>C (p.Tyr509Ser) n.3077A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51949669T= | CA2091541287 | ATP7B | c.*691A= (n.*691A=) c.*1602A= (n.*1602A=) c.2244+338A= (n.2244+338A=) c.2858A= (p.Tyr953=) c.2525A= (p.Tyr842=) c.2606A= (p.Tyr869=) c.2624A= (p.Tyr875=) n.38A= c.1800+338A= (n.1800+338A=) c.1568A= (p.Tyr523=) c.819A= n.3609+47A= n.2203A= c.2714A= (p.Tyr905=) n.212-3191A= c.2762A= (p.Tyr921=) c.2822A= (p.Tyr941=) c.2372A= (p.Tyr791=) c.674A= (p.Tyr225=) c.2730+338A= (n.2730+338A=) c.2444A= (p.Tyr815=) c.1526A= (p.Tyr509=) n.3077A= | |
13 | g.51949670A>C | CA388033222 | ATP7B | c.*690T>G (n.*690T>G) c.*1601T>G (n.*1601T>G) c.2244+337T>G (n.2244+337T>G) c.2857T>G (p.Tyr953Asp) c.2524T>G (p.Tyr842Asp) c.2605T>G (p.Tyr869Asp) c.2623T>G (p.Tyr875Asp) n.37T>G c.1800+337T>G (n.1800+337T>G) c.1567T>G (p.Tyr523Asp) c.818T>G n.3609+46T>G n.2202T>G c.2713T>G (p.Tyr905Asp) n.212-3192T>G c.2761T>G (p.Tyr921Asp) c.2821T>G (p.Tyr941Asp) c.2371T>G (p.Tyr791Asp) c.673T>G (p.Tyr225Asp) c.2730+337T>G (n.2730+337T>G) c.2443T>G (p.Tyr815Asp) c.1525T>G (p.Tyr509Asp) n.3076T>G | |
13 | g.51949670A>G | CA388033218 | ATP7B | c.*690T>C (n.*690T>C) c.*1601T>C (n.*1601T>C) c.2244+337T>C (n.2244+337T>C) c.2857T>C (p.Tyr953His) c.2524T>C (p.Tyr842His) c.2605T>C (p.Tyr869His) c.2623T>C (p.Tyr875His) n.37T>C c.1800+337T>C (n.1800+337T>C) c.1567T>C (p.Tyr523His) c.818T>C n.3609+46T>C n.2202T>C c.2713T>C (p.Tyr905His) n.212-3192T>C c.2761T>C (p.Tyr921His) c.2821T>C (p.Tyr941His) c.2371T>C (p.Tyr791His) c.673T>C (p.Tyr225His) c.2730+337T>C (n.2730+337T>C) c.2443T>C (p.Tyr815His) c.1525T>C (p.Tyr509His) n.3076T>C | |
13 | g.51949670A>T | CA388033215 | ATP7B | c.*690T>A (n.*690T>A) c.*1601T>A (n.*1601T>A) c.2244+337T>A (n.2244+337T>A) c.2857T>A (p.Tyr953Asn) c.2524T>A (p.Tyr842Asn) c.2605T>A (p.Tyr869Asn) c.2623T>A (p.Tyr875Asn) n.37T>A c.1800+337T>A (n.1800+337T>A) c.1567T>A (p.Tyr523Asn) c.818T>A n.3609+46T>A n.2202T>A c.2713T>A (p.Tyr905Asn) n.212-3192T>A c.2761T>A (p.Tyr921Asn) c.2821T>A (p.Tyr941Asn) c.2371T>A (p.Tyr791Asn) c.673T>A (p.Tyr225Asn) c.2730+337T>A (n.2730+337T>A) c.2443T>A (p.Tyr815Asn) c.1525T>A (p.Tyr509Asn) n.3076T>A | |
13 | g.51949671T>A | CA388033224 | ATP7B | c.*689A>T (n.*689A>T) c.*1600A>T (n.*1600A>T) c.2244+336A>T (n.2244+336A>T) c.2856A>T (p.Arg952Ser) c.2523A>T (p.Arg841Ser) c.2604A>T (p.Arg868Ser) c.2622A>T (p.Arg874Ser) n.36A>T c.1800+336A>T (n.1800+336A>T) c.1566A>T (p.Arg522Ser) c.817A>T n.3609+45A>T n.2201A>T c.2712A>T (p.Arg904Ser) n.212-3193A>T c.2760A>T (p.Arg920Ser) c.2820A>T (p.Arg940Ser) c.2370A>T (p.Arg790Ser) c.672A>T (p.Arg224Ser) c.2730+336A>T (n.2730+336A>T) c.2442A>T (p.Arg814Ser) c.1524A>T (p.Arg508Ser) n.3075A>T | |
13 | g.51949671T>C | CA484024450 | ATP7B | c.*689A>G (n.*689A>G) c.*1600A>G (n.*1600A>G) c.2244+336A>G (n.2244+336A>G) c.2856A>G (p.Arg952=) c.2523A>G (p.Arg841=) c.2604A>G (p.Arg868=) c.2622A>G (p.Arg874=) n.36A>G c.1800+336A>G (n.1800+336A>G) c.1566A>G (p.Arg522=) c.817A>G n.3609+45A>G n.2201A>G c.2712A>G (p.Arg904=) n.212-3193A>G c.2760A>G (p.Arg920=) c.2820A>G (p.Arg940=) c.2370A>G (p.Arg790=) c.672A>G (p.Arg224=) c.2730+336A>G (n.2730+336A>G) c.2442A>G (p.Arg814=) c.1524A>G (p.Arg508=) n.3075A>G | |
13 | g.51949671T>G | CA388033227 | ATP7B | c.*689A>C (n.*689A>C) c.*1600A>C (n.*1600A>C) c.2244+336A>C (n.2244+336A>C) c.2856A>C (p.Arg952Ser) c.2523A>C (p.Arg841Ser) c.2604A>C (p.Arg868Ser) c.2622A>C (p.Arg874Ser) n.36A>C c.1800+336A>C (n.1800+336A>C) c.1566A>C (p.Arg522Ser) c.817A>C n.3609+45A>C n.2201A>C c.2712A>C (p.Arg904Ser) n.212-3193A>C c.2760A>C (p.Arg920Ser) c.2820A>C (p.Arg940Ser) c.2370A>C (p.Arg790Ser) c.672A>C (p.Arg224Ser) c.2730+336A>C (n.2730+336A>C) c.2442A>C (p.Arg814Ser) c.1524A>C (p.Arg508Ser) n.3075A>C | |
13 | g.51949672_51949675del | CA2695218777 | ATP7B | c.*686_*689del (n.*686_*689del) c.*1597_*1600del (n.*1597_*1600del) c.2244+333_2244+336del (n.2244+333_2244+336del) c.2853_2856del (p.Gln951HisfsTer15) c.2520_2523del (p.Gln840HisfsTer15) c.2601_2604del (p.Gln867HisfsTer15) c.2619_2622del (p.Gln873HisfsTer15) n.33_36del c.1800+333_1800+336del (n.1800+333_1800+336del) c.1563_1566del (p.Gln521HisfsTer15) c.2853_2856del (p.Gln951HisfsTer5) c.814_817del c.2619_2622del (p.Gln873HisfsTer10) n.3609+42_3609+45del n.2198_2201del c.2709_2712del (p.Gln903HisfsTer15) n.212-3196_212-3193del c.2757_2760del (p.Gln919HisfsTer15) c.2817_2820del (p.Gln939HisfsTer15) c.2367_2370del (p.Gln789HisfsTer15) c.669_672del (p.Gln223HisfsTer15) c.2730+333_2730+336del (n.2730+333_2730+336del) c.2439_2442del (p.Gln813HisfsTer15) c.1521_1524del (p.Gln507HisfsTer15) n.3072_3075del | |
13 | g.51949672C>A | CA388033231 | ATP7B | c.*688G>T (n.*688G>T) c.*1599G>T (n.*1599G>T) c.2244+335G>T (n.2244+335G>T) c.2855G>T (p.Arg952Ile) c.2522G>T (p.Arg841Ile) c.2603G>T (p.Arg868Ile) c.2621G>T (p.Arg874Ile) n.35G>T c.1800+335G>T (n.1800+335G>T) c.1565G>T (p.Arg522Ile) c.816G>T n.3609+44G>T n.2200G>T c.2711G>T (p.Arg904Ile) n.212-3194G>T c.2759G>T (p.Arg920Ile) c.2819G>T (p.Arg940Ile) c.2369G>T (p.Arg790Ile) c.671G>T (p.Arg224Ile) c.2730+335G>T (n.2730+335G>T) c.2441G>T (p.Arg814Ile) c.1523G>T (p.Arg508Ile) n.3074G>T | |
13 | g.51949672C= | CA2091541294 | ATP7B | c.*688G= (n.*688G=) c.*1599G= (n.*1599G=) c.2244+335G= (n.2244+335G=) c.2855G= (p.Arg952=) c.2522G= (p.Arg841=) c.2603G= (p.Arg868=) c.2621G= (p.Arg874=) n.35G= c.1800+335G= (n.1800+335G=) c.1565G= (p.Arg522=) c.816G= n.3609+44G= n.2200G= c.2711G= (p.Arg904=) n.212-3194G= c.2759G= (p.Arg920=) c.2819G= (p.Arg940=) c.2369G= (p.Arg790=) c.671G= (p.Arg224=) c.2730+335G= (n.2730+335G=) c.2441G= (p.Arg814=) c.1523G= (p.Arg508=) n.3074G= | |
13 | g.51949672C>G | CA388033235 | ATP7B | c.*688G>C (n.*688G>C) c.*1599G>C (n.*1599G>C) c.2244+335G>C (n.2244+335G>C) c.2855G>C (p.Arg952Thr) c.2522G>C (p.Arg841Thr) c.2603G>C (p.Arg868Thr) c.2621G>C (p.Arg874Thr) n.35G>C c.1800+335G>C (n.1800+335G>C) c.1565G>C (p.Arg522Thr) c.816G>C n.3609+44G>C n.2200G>C c.2711G>C (p.Arg904Thr) n.212-3194G>C c.2759G>C (p.Arg920Thr) c.2819G>C (p.Arg940Thr) c.2369G>C (p.Arg790Thr) c.671G>C (p.Arg224Thr) c.2730+335G>C (n.2730+335G>C) c.2441G>C (p.Arg814Thr) c.1523G>C (p.Arg508Thr) n.3074G>C | |
13 | g.51949672C>T | CA145676 | ATP7B | c.*688G>A (n.*688G>A) c.*1599G>A (n.*1599G>A) c.2244+335G>A (n.2244+335G>A) c.2855G>A (p.Arg952Lys) c.2522G>A (p.Arg841Lys) c.2603G>A (p.Arg868Lys) c.2621G>A (p.Arg874Lys) n.35G>A c.1800+335G>A (n.1800+335G>A) c.1565G>A (p.Arg522Lys) c.816G>A n.3609+44G>A n.2200G>A c.2711G>A (p.Arg904Lys) n.212-3194G>A c.2759G>A (p.Arg920Lys) c.2819G>A (p.Arg940Lys) c.2369G>A (p.Arg790Lys) c.671G>A (p.Arg224Lys) c.2730+335G>A (n.2730+335G>A) c.2441G>A (p.Arg814Lys) c.1523G>A (p.Arg508Lys) n.3074G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51949673T>A | CA388033239 | ATP7B | c.*687A>T (n.*687A>T) c.*1598A>T (n.*1598A>T) c.2244+334A>T (n.2244+334A>T) c.2854A>T (p.Arg952Ter) c.2521A>T (p.Arg841Ter) c.2602A>T (p.Arg868Ter) c.2620A>T (p.Arg874Ter) n.34A>T c.1800+334A>T (n.1800+334A>T) c.1564A>T (p.Arg522Ter) c.815A>T n.3609+43A>T n.2199A>T c.2710A>T (p.Arg904Ter) n.212-3195A>T c.2758A>T (p.Arg920Ter) c.2818A>T (p.Arg940Ter) c.2368A>T (p.Arg790Ter) c.670A>T (p.Arg224Ter) c.2730+334A>T (n.2730+334A>T) c.2440A>T (p.Arg814Ter) c.1522A>T (p.Arg508Ter) n.3073A>T | |
13 | g.51949673T>C | CA388033241 | ATP7B | c.*687A>G (n.*687A>G) c.*1598A>G (n.*1598A>G) c.2244+334A>G (n.2244+334A>G) c.2854A>G (p.Arg952Gly) c.2521A>G (p.Arg841Gly) c.2602A>G (p.Arg868Gly) c.2620A>G (p.Arg874Gly) n.34A>G c.1800+334A>G (n.1800+334A>G) c.1564A>G (p.Arg522Gly) c.815A>G n.3609+43A>G n.2199A>G c.2710A>G (p.Arg904Gly) n.212-3195A>G c.2758A>G (p.Arg920Gly) c.2818A>G (p.Arg940Gly) c.2368A>G (p.Arg790Gly) c.670A>G (p.Arg224Gly) c.2730+334A>G (n.2730+334A>G) c.2440A>G (p.Arg814Gly) c.1522A>G (p.Arg508Gly) n.3073A>G | |
13 | g.51949673T>G | CA484024451 | ATP7B | c.*687A>C (n.*687A>C) c.*1598A>C (n.*1598A>C) c.2244+334A>C (n.2244+334A>C) c.2854A>C (p.Arg952=) c.2521A>C (p.Arg841=) c.2602A>C (p.Arg868=) c.2620A>C (p.Arg874=) n.34A>C c.1800+334A>C (n.1800+334A>C) c.1564A>C (p.Arg522=) c.815A>C n.3609+43A>C n.2199A>C c.2710A>C (p.Arg904=) n.212-3195A>C c.2758A>C (p.Arg920=) c.2818A>C (p.Arg940=) c.2368A>C (p.Arg790=) c.670A>C (p.Arg224=) c.2730+334A>C (n.2730+334A>C) c.2440A>C (p.Arg814=) c.1522A>C (p.Arg508=) n.3073A>C | |
13 | g.51949674C>A | CA388033243 | ATP7B | c.*686G>T (n.*686G>T) c.*1597G>T (n.*1597G>T) c.2244+333G>T (n.2244+333G>T) c.2853G>T (p.Gln951His) c.2520G>T (p.Gln840His) c.2601G>T (p.Gln867His) c.2619G>T (p.Gln873His) n.33G>T c.1800+333G>T (n.1800+333G>T) c.1563G>T (p.Gln521His) c.814G>T n.3609+42G>T n.2198G>T c.2709G>T (p.Gln903His) n.212-3196G>T c.2757G>T (p.Gln919His) c.2817G>T (p.Gln939His) c.2367G>T (p.Gln789His) c.669G>T (p.Gln223His) c.2730+333G>T (n.2730+333G>T) c.2439G>T (p.Gln813His) c.1521G>T (p.Gln507His) n.3072G>T | |
13 | g.51949674C>G | CA388033244 | ATP7B | c.*686G>C (n.*686G>C) c.*1597G>C (n.*1597G>C) c.2244+333G>C (n.2244+333G>C) c.2853G>C (p.Gln951His) c.2520G>C (p.Gln840His) c.2601G>C (p.Gln867His) c.2619G>C (p.Gln873His) n.33G>C c.1800+333G>C (n.1800+333G>C) c.1563G>C (p.Gln521His) c.814G>C n.3609+42G>C n.2198G>C c.2709G>C (p.Gln903His) n.212-3196G>C c.2757G>C (p.Gln919His) c.2817G>C (p.Gln939His) c.2367G>C (p.Gln789His) c.669G>C (p.Gln223His) c.2730+333G>C (n.2730+333G>C) c.2439G>C (p.Gln813His) c.1521G>C (p.Gln507His) n.3072G>C | |
13 | g.51949674C>T | CA484024452 | ATP7B | c.*686G>A (n.*686G>A) c.*1597G>A (n.*1597G>A) c.2244+333G>A (n.2244+333G>A) c.2853G>A (p.Gln951=) c.2520G>A (p.Gln840=) c.2601G>A (p.Gln867=) c.2619G>A (p.Gln873=) n.33G>A c.1800+333G>A (n.1800+333G>A) c.1563G>A (p.Gln521=) c.814G>A n.3609+42G>A n.2198G>A c.2709G>A (p.Gln903=) n.212-3196G>A c.2757G>A (p.Gln919=) c.2817G>A (p.Gln939=) c.2367G>A (p.Gln789=) c.669G>A (p.Gln223=) c.2730+333G>A (n.2730+333G>A) c.2439G>A (p.Gln813=) c.1521G>A (p.Gln507=) n.3072G>A | |
13 | g.51949675T>A | CA388033247 | ATP7B | c.*685A>T (n.*685A>T) c.*1596A>T (n.*1596A>T) c.2244+332A>T (n.2244+332A>T) c.2852A>T (p.Gln951Leu) c.2519A>T (p.Gln840Leu) c.2600A>T (p.Gln867Leu) c.2618A>T (p.Gln873Leu) n.32A>T c.1800+332A>T (n.1800+332A>T) c.1562A>T (p.Gln521Leu) c.813A>T n.3609+41A>T n.2197A>T c.2708A>T (p.Gln903Leu) n.212-3197A>T c.2756A>T (p.Gln919Leu) c.2816A>T (p.Gln939Leu) c.2366A>T (p.Gln789Leu) c.668A>T (p.Gln223Leu) c.2730+332A>T (n.2730+332A>T) c.2438A>T (p.Gln813Leu) c.1520A>T (p.Gln507Leu) n.3071A>T | |
13 | g.51949675T>C | CA388033250 | ATP7B | c.*685A>G (n.*685A>G) c.*1596A>G (n.*1596A>G) c.2244+332A>G (n.2244+332A>G) c.2852A>G (p.Gln951Arg) c.2519A>G (p.Gln840Arg) c.2600A>G (p.Gln867Arg) c.2618A>G (p.Gln873Arg) n.32A>G c.1800+332A>G (n.1800+332A>G) c.1562A>G (p.Gln521Arg) c.813A>G n.3609+41A>G n.2197A>G c.2708A>G (p.Gln903Arg) n.212-3197A>G c.2756A>G (p.Gln919Arg) c.2816A>G (p.Gln939Arg) c.2366A>G (p.Gln789Arg) c.668A>G (p.Gln223Arg) c.2730+332A>G (n.2730+332A>G) c.2438A>G (p.Gln813Arg) c.1520A>G (p.Gln507Arg) n.3071A>G | |
13 | g.51949675T>G | CA388033253 | ATP7B | c.*685A>C (n.*685A>C) c.*1596A>C (n.*1596A>C) c.2244+332A>C (n.2244+332A>C) c.2852A>C (p.Gln951Pro) c.2519A>C (p.Gln840Pro) c.2600A>C (p.Gln867Pro) c.2618A>C (p.Gln873Pro) n.32A>C c.1800+332A>C (n.1800+332A>C) c.1562A>C (p.Gln521Pro) c.813A>C n.3609+41A>C n.2197A>C c.2708A>C (p.Gln903Pro) n.212-3197A>C c.2756A>C (p.Gln919Pro) c.2816A>C (p.Gln939Pro) c.2366A>C (p.Gln789Pro) c.668A>C (p.Gln223Pro) c.2730+332A>C (n.2730+332A>C) c.2438A>C (p.Gln813Pro) c.1520A>C (p.Gln507Pro) n.3071A>C | |
13 | g.51949676G>A | CA388033268 | ATP7B | c.*684C>T (n.*684C>T) c.*1595C>T (n.*1595C>T) c.2244+331C>T (n.2244+331C>T) c.2851C>T (p.Gln951Ter) c.2518C>T (p.Gln840Ter) c.2599C>T (p.Gln867Ter) c.2617C>T (p.Gln873Ter) n.31C>T c.1800+331C>T (n.1800+331C>T) c.1561C>T (p.Gln521Ter) c.812C>T n.3609+40C>T n.2196C>T c.2707C>T (p.Gln903Ter) n.212-3198C>T c.2755C>T (p.Gln919Ter) c.2815C>T (p.Gln939Ter) c.2365C>T (p.Gln789Ter) c.667C>T (p.Gln223Ter) c.2730+331C>T (n.2730+331C>T) c.2437C>T (p.Gln813Ter) c.1519C>T (p.Gln507Ter) n.3070C>T | ClinVar |
13 | g.51949676G>C | CA388033265 | ATP7B | c.*684C>G (n.*684C>G) c.*1595C>G (n.*1595C>G) c.2244+331C>G (n.2244+331C>G) c.2851C>G (p.Gln951Glu) c.2518C>G (p.Gln840Glu) c.2599C>G (p.Gln867Glu) c.2617C>G (p.Gln873Glu) n.31C>G c.1800+331C>G (n.1800+331C>G) c.1561C>G (p.Gln521Glu) c.812C>G n.3609+40C>G n.2196C>G c.2707C>G (p.Gln903Glu) n.212-3198C>G c.2755C>G (p.Gln919Glu) c.2815C>G (p.Gln939Glu) c.2365C>G (p.Gln789Glu) c.667C>G (p.Gln223Glu) c.2730+331C>G (n.2730+331C>G) c.2437C>G (p.Gln813Glu) c.1519C>G (p.Gln507Glu) n.3070C>G | |
13 | g.51949676G>T | CA388033261 | ATP7B | c.*684C>A (n.*684C>A) c.*1595C>A (n.*1595C>A) c.2244+331C>A (n.2244+331C>A) c.2851C>A (p.Gln951Lys) c.2518C>A (p.Gln840Lys) c.2599C>A (p.Gln867Lys) c.2617C>A (p.Gln873Lys) n.31C>A c.1800+331C>A (n.1800+331C>A) c.1561C>A (p.Gln521Lys) c.812C>A n.3609+40C>A n.2196C>A c.2707C>A (p.Gln903Lys) n.212-3198C>A c.2755C>A (p.Gln919Lys) c.2815C>A (p.Gln939Lys) c.2365C>A (p.Gln789Lys) c.667C>A (p.Gln223Lys) c.2730+331C>A (n.2730+331C>A) c.2437C>A (p.Gln813Lys) c.1519C>A (p.Gln507Lys) n.3070C>A | |
13 | g.51949676_51949679del | CA912974799 | ATP7B | c.*681_*684del (n.*681_*684del) c.*1592_*1595del (n.*1592_*1595del) c.2244+328_2244+331del (n.2244+328_2244+331del) c.2848_2851del (p.Val950ArgfsTer16) c.2515_2518del (p.Val839ArgfsTer16) c.2596_2599del (p.Val866ArgfsTer16) c.2614_2617del (p.Val872ArgfsTer16) n.28_31del c.1800+328_1800+331del (n.1800+328_1800+331del) c.1558_1561del (p.Val520ArgfsTer16) c.2848_2851del (p.Val950ArgfsTer6) c.809_812del c.2614_2617del (p.Val872ArgfsTer11) n.3609+37_3609+40del n.2193_2196del c.2704_2707del (p.Val902ArgfsTer16) n.212-3201_212-3198del c.2752_2755del (p.Val918ArgfsTer16) c.2812_2815del (p.Val938ArgfsTer16) c.2362_2365del (p.Val788ArgfsTer16) c.664_667del (p.Val222ArgfsTer16) c.2730+328_2730+331del (n.2730+328_2730+331del) c.2434_2437del (p.Val812ArgfsTer16) c.1516_1519del (p.Val506ArgfsTer16) n.3067_3070del | |
13 | g.51949676_51949679delinsGAAC | CA2091541298 | ATP7B | c.*681_*684delinsGTTC (n.*681_*684delinsGTTC) c.*1592_*1595delinsGTTC (n.*1592_*1595delinsGTTC) c.2244+328_2244+331delinsGTTC (n.2244+328_2244+331delinsGTTC) c.2848_2851delinsGTTC (p.Val950=) c.2515_2518delinsGTTC (p.Val839=) c.2596_2599delinsGTTC (p.Val866=) c.2614_2617delinsGTTC (p.Val872=) n.28_31delinsGTTC c.1800+328_1800+331delinsGTTC (n.1800+328_1800+331delinsGTTC) c.1558_1561delinsGTTC (p.Val520=) c.809_812delinsGTTC n.3609+37_3609+40delinsGTTC n.2193_2196delinsGTTC c.2704_2707delinsGTTC (p.Val902=) n.212-3201_212-3198delinsGTTC c.2752_2755delinsGTTC (p.Val918=) c.2812_2815delinsGTTC (p.Val938=) c.2362_2365delinsGTTC (p.Val788=) c.664_667delinsGTTC (p.Val222=) c.2730+328_2730+331delinsGTTC (n.2730+328_2730+331delinsGTTC) c.2434_2437delinsGTTC (p.Val812=) c.1516_1519delinsGTTC (p.Val506=) n.3067_3070delinsGTTC | |
13 | g.51949677A>C | CA484024453 | ATP7B | c.*683T>G (n.*683T>G) c.*1594T>G (n.*1594T>G) c.2244+330T>G (n.2244+330T>G) c.2850T>G (p.Val950=) c.2517T>G (p.Val839=) c.2598T>G (p.Val866=) c.2616T>G (p.Val872=) n.30T>G c.1800+330T>G (n.1800+330T>G) c.1560T>G (p.Val520=) c.811T>G n.3609+39T>G n.2195T>G c.2706T>G (p.Val902=) n.212-3199T>G c.2754T>G (p.Val918=) c.2814T>G (p.Val938=) c.2364T>G (p.Val788=) c.666T>G (p.Val222=) c.2730+330T>G (n.2730+330T>G) c.2436T>G (p.Val812=) c.1518T>G (p.Val506=) n.3069T>G | |
13 | g.51949677A>G | CA484024454 | ATP7B | c.*683T>C (n.*683T>C) c.*1594T>C (n.*1594T>C) c.2244+330T>C (n.2244+330T>C) c.2850T>C (p.Val950=) c.2517T>C (p.Val839=) c.2598T>C (p.Val866=) c.2616T>C (p.Val872=) n.30T>C c.1800+330T>C (n.1800+330T>C) c.1560T>C (p.Val520=) c.811T>C n.3609+39T>C n.2195T>C c.2706T>C (p.Val902=) n.212-3199T>C c.2754T>C (p.Val918=) c.2814T>C (p.Val938=) c.2364T>C (p.Val788=) c.666T>C (p.Val222=) c.2730+330T>C (n.2730+330T>C) c.2436T>C (p.Val812=) c.1518T>C (p.Val506=) n.3069T>C | |
13 | g.51949677A>T | CA484024455 | ATP7B | c.*683T>A (n.*683T>A) c.*1594T>A (n.*1594T>A) c.2244+330T>A (n.2244+330T>A) c.2850T>A (p.Val950=) c.2517T>A (p.Val839=) c.2598T>A (p.Val866=) c.2616T>A (p.Val872=) n.30T>A c.1800+330T>A (n.1800+330T>A) c.1560T>A (p.Val520=) c.811T>A n.3609+39T>A n.2195T>A c.2706T>A (p.Val902=) n.212-3199T>A c.2754T>A (p.Val918=) c.2814T>A (p.Val938=) c.2364T>A (p.Val788=) c.666T>A (p.Val222=) c.2730+330T>A (n.2730+330T>A) c.2436T>A (p.Val812=) c.1518T>A (p.Val506=) n.3069T>A | |
13 | g.51949681_51949683del | CA610425773 | ATP7B | c.*681_*683del (n.*681_*683del) c.*1592_*1594del (n.*1592_*1594del) c.2244+328_2244+330del (n.2244+328_2244+330del) c.2848_2850del (p.Val950del) c.2515_2517del (p.Val839del) c.2596_2598del (p.Val866del) c.2614_2616del (p.Val872del) n.28_30del c.1800+328_1800+330del (n.1800+328_1800+330del) c.1558_1560del (p.Val520del) c.809_811del n.3609+37_3609+39del n.2193_2195del c.2704_2706del (p.Val902del) n.212-3201_212-3199del c.2752_2754del (p.Val918del) c.2812_2814del (p.Val938del) c.2362_2364del (p.Val788del) c.664_666del (p.Val222del) c.2730+328_2730+330del (n.2730+328_2730+330del) c.2434_2436del (p.Val812del) c.1516_1518del (p.Val506del) n.3067_3069del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51949678A>C | CA388033274 | ATP7B | c.*682T>G (n.*682T>G) c.*1593T>G (n.*1593T>G) c.2244+329T>G (n.2244+329T>G) c.2849T>G (p.Val950Gly) c.2516T>G (p.Val839Gly) c.2597T>G (p.Val866Gly) c.2615T>G (p.Val872Gly) n.29T>G c.1800+329T>G (n.1800+329T>G) c.1559T>G (p.Val520Gly) c.810T>G n.3609+38T>G n.2194T>G c.2705T>G (p.Val902Gly) n.212-3200T>G c.2753T>G (p.Val918Gly) c.2813T>G (p.Val938Gly) c.2363T>G (p.Val788Gly) c.665T>G (p.Val222Gly) c.2730+329T>G (n.2730+329T>G) c.2435T>G (p.Val812Gly) c.1517T>G (p.Val506Gly) n.3068T>G | |
13 | g.51949678A>G | CA388033276 | ATP7B | c.*682T>C (n.*682T>C) c.*1593T>C (n.*1593T>C) c.2244+329T>C (n.2244+329T>C) c.2849T>C (p.Val950Ala) c.2516T>C (p.Val839Ala) c.2597T>C (p.Val866Ala) c.2615T>C (p.Val872Ala) n.29T>C c.1800+329T>C (n.1800+329T>C) c.1559T>C (p.Val520Ala) c.810T>C n.3609+38T>C n.2194T>C c.2705T>C (p.Val902Ala) n.212-3200T>C c.2753T>C (p.Val918Ala) c.2813T>C (p.Val938Ala) c.2363T>C (p.Val788Ala) c.665T>C (p.Val222Ala) c.2730+329T>C (n.2730+329T>C) c.2435T>C (p.Val812Ala) c.1517T>C (p.Val506Ala) n.3068T>C | gnomAD v4 |
13 | g.51949678A>T | CA388033278 | ATP7B | c.*682T>A (n.*682T>A) c.*1593T>A (n.*1593T>A) c.2244+329T>A (n.2244+329T>A) c.2849T>A (p.Val950Asp) c.2516T>A (p.Val839Asp) c.2597T>A (p.Val866Asp) c.2615T>A (p.Val872Asp) n.29T>A c.1800+329T>A (n.1800+329T>A) c.1559T>A (p.Val520Asp) c.810T>A n.3609+38T>A n.2194T>A c.2705T>A (p.Val902Asp) n.212-3200T>A c.2753T>A (p.Val918Asp) c.2813T>A (p.Val938Asp) c.2363T>A (p.Val788Asp) c.665T>A (p.Val222Asp) c.2730+329T>A (n.2730+329T>A) c.2435T>A (p.Val812Asp) c.1517T>A (p.Val506Asp) n.3068T>A | |
13 | g.51949679C>A | CA388033283 | ATP7B | c.*681G>T (n.*681G>T) c.*1592G>T (n.*1592G>T) c.2244+328G>T (n.2244+328G>T) c.2848G>T (p.Val950Phe) c.2515G>T (p.Val839Phe) c.2596G>T (p.Val866Phe) c.2614G>T (p.Val872Phe) n.28G>T c.1800+328G>T (n.1800+328G>T) c.1558G>T (p.Val520Phe) c.809G>T n.3609+37G>T n.2193G>T c.2704G>T (p.Val902Phe) n.212-3201G>T c.2752G>T (p.Val918Phe) c.2812G>T (p.Val938Phe) c.2362G>T (p.Val788Phe) c.664G>T (p.Val222Phe) c.2730+328G>T (n.2730+328G>T) c.2434G>T (p.Val812Phe) c.1516G>T (p.Val506Phe) n.3067G>T | |
13 | g.51949679C>G | CA388033288 | ATP7B | c.*681G>C (n.*681G>C) c.*1592G>C (n.*1592G>C) c.2244+328G>C (n.2244+328G>C) c.2848G>C (p.Val950Leu) c.2515G>C (p.Val839Leu) c.2596G>C (p.Val866Leu) c.2614G>C (p.Val872Leu) n.28G>C c.1800+328G>C (n.1800+328G>C) c.1558G>C (p.Val520Leu) c.809G>C n.3609+37G>C n.2193G>C c.2704G>C (p.Val902Leu) n.212-3201G>C c.2752G>C (p.Val918Leu) c.2812G>C (p.Val938Leu) c.2362G>C (p.Val788Leu) c.664G>C (p.Val222Leu) c.2730+328G>C (n.2730+328G>C) c.2434G>C (p.Val812Leu) c.1516G>C (p.Val506Leu) n.3067G>C | |
13 | g.51949679C>T | CA388033292 | ATP7B | c.*681G>A (n.*681G>A) c.*1592G>A (n.*1592G>A) c.2244+328G>A (n.2244+328G>A) c.2848G>A (p.Val950Ile) c.2515G>A (p.Val839Ile) c.2596G>A (p.Val866Ile) c.2614G>A (p.Val872Ile) n.28G>A c.1800+328G>A (n.1800+328G>A) c.1558G>A (p.Val520Ile) c.809G>A n.3609+37G>A n.2193G>A c.2704G>A (p.Val902Ile) n.212-3201G>A c.2752G>A (p.Val918Ile) c.2812G>A (p.Val938Ile) c.2362G>A (p.Val788Ile) c.664G>A (p.Val222Ile) c.2730+328G>A (n.2730+328G>A) c.2434G>A (p.Val812Ile) c.1516G>A (p.Val506Ile) n.3067G>A | gnomAD v4 |
13 | g.51949680A= | CA2091541306 | ATP7B | c.*680T= (n.*680T=) c.*1591T= (n.*1591T=) c.2244+327T= (n.2244+327T=) c.2847T= (p.Val949=) c.2514T= (p.Val838=) c.2595T= (p.Val865=) c.2613T= (p.Val871=) n.27T= c.1800+327T= (n.1800+327T=) c.1557T= (p.Val519=) c.808T= n.3609+36T= n.2192T= c.2703T= (p.Val901=) n.212-3202T= c.2751T= (p.Val917=) c.2811T= (p.Val937=) c.2361T= (p.Val787=) c.663T= (p.Val221=) c.2730+327T= (n.2730+327T=) c.2433T= (p.Val811=) c.1515T= (p.Val505=) n.3066T= | |
13 | g.51949680A>C | CA484024456 | ATP7B | c.*680T>G (n.*680T>G) c.*1591T>G (n.*1591T>G) c.2244+327T>G (n.2244+327T>G) c.2847T>G (p.Val949=) c.2514T>G (p.Val838=) c.2595T>G (p.Val865=) c.2613T>G (p.Val871=) n.27T>G c.1800+327T>G (n.1800+327T>G) c.1557T>G (p.Val519=) c.808T>G n.3609+36T>G n.2192T>G c.2703T>G (p.Val901=) n.212-3202T>G c.2751T>G (p.Val917=) c.2811T>G (p.Val937=) c.2361T>G (p.Val787=) c.663T>G (p.Val221=) c.2730+327T>G (n.2730+327T>G) c.2433T>G (p.Val811=) c.1515T>G (p.Val505=) n.3066T>G | |
13 | g.51949680A>G | CA484024457 | ATP7B | c.*680T>C (n.*680T>C) c.*1591T>C (n.*1591T>C) c.2244+327T>C (n.2244+327T>C) c.2847T>C (p.Val949=) c.2514T>C (p.Val838=) c.2595T>C (p.Val865=) c.2613T>C (p.Val871=) n.27T>C c.1800+327T>C (n.1800+327T>C) c.1557T>C (p.Val519=) c.808T>C n.3609+36T>C n.2192T>C c.2703T>C (p.Val901=) n.212-3202T>C c.2751T>C (p.Val917=) c.2811T>C (p.Val937=) c.2361T>C (p.Val787=) c.663T>C (p.Val221=) c.2730+327T>C (n.2730+327T>C) c.2433T>C (p.Val811=) c.1515T>C (p.Val505=) n.3066T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51949680A>T | CA484024458 | ATP7B | c.*680T>A (n.*680T>A) c.*1591T>A (n.*1591T>A) c.2244+327T>A (n.2244+327T>A) c.2847T>A (p.Val949=) c.2514T>A (p.Val838=) c.2595T>A (p.Val865=) c.2613T>A (p.Val871=) n.27T>A c.1800+327T>A (n.1800+327T>A) c.1557T>A (p.Val519=) c.808T>A n.3609+36T>A n.2192T>A c.2703T>A (p.Val901=) n.212-3202T>A c.2751T>A (p.Val917=) c.2811T>A (p.Val937=) c.2361T>A (p.Val787=) c.663T>A (p.Val221=) c.2730+327T>A (n.2730+327T>A) c.2433T>A (p.Val811=) c.1515T>A (p.Val505=) n.3066T>A | |
13 | g.51949681A= | CA2091541310 | ATP7B | c.*679T= (n.*679T=) c.*1590T= (n.*1590T=) c.2244+326T= (n.2244+326T=) c.2846T= (p.Val949=) c.2513T= (p.Val838=) c.2594T= (p.Val865=) c.2612T= (p.Val871=) n.26T= c.1800+326T= (n.1800+326T=) c.1556T= (p.Val519=) c.807T= n.3609+35T= n.2191T= c.2702T= (p.Val901=) n.212-3203T= c.2750T= (p.Val917=) c.2810T= (p.Val937=) c.2360T= (p.Val787=) c.662T= (p.Val221=) c.2730+326T= (n.2730+326T=) c.2432T= (p.Val811=) c.1514T= (p.Val505=) n.3065T= | |
13 | g.51949681A>C | CA388033295 | ATP7B | c.*679T>G (n.*679T>G) c.*1590T>G (n.*1590T>G) c.2244+326T>G (n.2244+326T>G) c.2846T>G (p.Val949Gly) c.2513T>G (p.Val838Gly) c.2594T>G (p.Val865Gly) c.2612T>G (p.Val871Gly) n.26T>G c.1800+326T>G (n.1800+326T>G) c.1556T>G (p.Val519Gly) c.807T>G n.3609+35T>G n.2191T>G c.2702T>G (p.Val901Gly) n.212-3203T>G c.2750T>G (p.Val917Gly) c.2810T>G (p.Val937Gly) c.2360T>G (p.Val787Gly) c.662T>G (p.Val221Gly) c.2730+326T>G (n.2730+326T>G) c.2432T>G (p.Val811Gly) c.1514T>G (p.Val505Gly) n.3065T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51949681A>G | CA388033298 | ATP7B | c.*679T>C (n.*679T>C) c.*1590T>C (n.*1590T>C) c.2244+326T>C (n.2244+326T>C) c.2846T>C (p.Val949Ala) c.2513T>C (p.Val838Ala) c.2594T>C (p.Val865Ala) c.2612T>C (p.Val871Ala) n.26T>C c.1800+326T>C (n.1800+326T>C) c.1556T>C (p.Val519Ala) c.807T>C n.3609+35T>C n.2191T>C c.2702T>C (p.Val901Ala) n.212-3203T>C c.2750T>C (p.Val917Ala) c.2810T>C (p.Val937Ala) c.2360T>C (p.Val787Ala) c.662T>C (p.Val221Ala) c.2730+326T>C (n.2730+326T>C) c.2432T>C (p.Val811Ala) c.1514T>C (p.Val505Ala) n.3065T>C | |
13 | g.51949681A>T | CA388033302 | ATP7B | c.*679T>A (n.*679T>A) c.*1590T>A (n.*1590T>A) c.2244+326T>A (n.2244+326T>A) c.2846T>A (p.Val949Asp) c.2513T>A (p.Val838Asp) c.2594T>A (p.Val865Asp) c.2612T>A (p.Val871Asp) n.26T>A c.1800+326T>A (n.1800+326T>A) c.1556T>A (p.Val519Asp) c.807T>A n.3609+35T>A n.2191T>A c.2702T>A (p.Val901Asp) n.212-3203T>A c.2750T>A (p.Val917Asp) c.2810T>A (p.Val937Asp) c.2360T>A (p.Val787Asp) c.662T>A (p.Val221Asp) c.2730+326T>A (n.2730+326T>A) c.2432T>A (p.Val811Asp) c.1514T>A (p.Val505Asp) n.3065T>A | |
13 | g.51949682C>A | CA388033305 | ATP7B | c.*678G>T (n.*678G>T) c.*1589G>T (n.*1589G>T) c.2244+325G>T (n.2244+325G>T) c.2845G>T (p.Val949Phe) c.2512G>T (p.Val838Phe) c.2593G>T (p.Val865Phe) c.2611G>T (p.Val871Phe) n.25G>T c.1800+325G>T (n.1800+325G>T) c.1555G>T (p.Val519Phe) c.806G>T n.3609+34G>T n.2190G>T c.2701G>T (p.Val901Phe) n.212-3204G>T c.2749G>T (p.Val917Phe) c.2809G>T (p.Val937Phe) c.2359G>T (p.Val787Phe) c.661G>T (p.Val221Phe) c.2730+325G>T (n.2730+325G>T) c.2431G>T (p.Val811Phe) c.1513G>T (p.Val505Phe) n.3064G>T | |
13 | g.51949682C>G | CA388033306 | ATP7B | c.*678G>C (n.*678G>C) c.*1589G>C (n.*1589G>C) c.2244+325G>C (n.2244+325G>C) c.2845G>C (p.Val949Leu) c.2512G>C (p.Val838Leu) c.2593G>C (p.Val865Leu) c.2611G>C (p.Val871Leu) n.25G>C c.1800+325G>C (n.1800+325G>C) c.1555G>C (p.Val519Leu) c.806G>C n.3609+34G>C n.2190G>C c.2701G>C (p.Val901Leu) n.212-3204G>C c.2749G>C (p.Val917Leu) c.2809G>C (p.Val937Leu) c.2359G>C (p.Val787Leu) c.661G>C (p.Val221Leu) c.2730+325G>C (n.2730+325G>C) c.2431G>C (p.Val811Leu) c.1513G>C (p.Val505Leu) n.3064G>C | |
13 | g.51949682C>T | CA388033309 | ATP7B | c.*678G>A (n.*678G>A) c.*1589G>A (n.*1589G>A) c.2244+325G>A (n.2244+325G>A) c.2845G>A (p.Val949Ile) c.2512G>A (p.Val838Ile) c.2593G>A (p.Val865Ile) c.2611G>A (p.Val871Ile) n.25G>A c.1800+325G>A (n.1800+325G>A) c.1555G>A (p.Val519Ile) c.806G>A n.3609+34G>A n.2190G>A c.2701G>A (p.Val901Ile) n.212-3204G>A c.2749G>A (p.Val917Ile) c.2809G>A (p.Val937Ile) c.2359G>A (p.Val787Ile) c.661G>A (p.Val221Ile) c.2730+325G>A (n.2730+325G>A) c.2431G>A (p.Val811Ile) c.1513G>A (p.Val505Ile) n.3064G>A | |
13 | g.51949683A>C | CA484024459 | ATP7B | c.*677T>G (n.*677T>G) c.*1588T>G (n.*1588T>G) c.2244+324T>G (n.2244+324T>G) c.2844T>G (p.Gly948=) c.2511T>G (p.Gly837=) c.2592T>G (p.Gly864=) c.2610T>G (p.Gly870=) n.24T>G c.1800+324T>G (n.1800+324T>G) c.1554T>G (p.Gly518=) c.805T>G n.3609+33T>G n.2189T>G c.2700T>G (p.Gly900=) n.212-3205T>G c.2748T>G (p.Gly916=) c.2808T>G (p.Gly936=) c.2358T>G (p.Gly786=) c.660T>G (p.Gly220=) c.2730+324T>G (n.2730+324T>G) c.2430T>G (p.Gly810=) c.1512T>G (p.Gly504=) n.3063T>G | |
13 | g.51949683A>G | CA484024460 | ATP7B | c.*677T>C (n.*677T>C) c.*1588T>C (n.*1588T>C) c.2244+324T>C (n.2244+324T>C) c.2844T>C (p.Gly948=) c.2511T>C (p.Gly837=) c.2592T>C (p.Gly864=) c.2610T>C (p.Gly870=) n.24T>C c.1800+324T>C (n.1800+324T>C) c.1554T>C (p.Gly518=) c.805T>C n.3609+33T>C n.2189T>C c.2700T>C (p.Gly900=) n.212-3205T>C c.2748T>C (p.Gly916=) c.2808T>C (p.Gly936=) c.2358T>C (p.Gly786=) c.660T>C (p.Gly220=) c.2730+324T>C (n.2730+324T>C) c.2430T>C (p.Gly810=) c.1512T>C (p.Gly504=) n.3063T>C | |
13 | g.51949683A>T | CA484024461 | ATP7B | c.*677T>A (n.*677T>A) c.*1588T>A (n.*1588T>A) c.2244+324T>A (n.2244+324T>A) c.2844T>A (p.Gly948=) c.2511T>A (p.Gly837=) c.2592T>A (p.Gly864=) c.2610T>A (p.Gly870=) n.24T>A c.1800+324T>A (n.1800+324T>A) c.1554T>A (p.Gly518=) c.805T>A n.3609+33T>A n.2189T>A c.2700T>A (p.Gly900=) n.212-3205T>A c.2748T>A (p.Gly916=) c.2808T>A (p.Gly936=) c.2358T>A (p.Gly786=) c.660T>A (p.Gly220=) c.2730+324T>A (n.2730+324T>A) c.2430T>A (p.Gly810=) c.1512T>A (p.Gly504=) n.3063T>A | |
13 | g.51949684C>A | CA388033318 | ATP7B | c.*676G>T (n.*676G>T) c.*1587G>T (n.*1587G>T) c.2244+323G>T (n.2244+323G>T) c.2843G>T (p.Gly948Val) c.2510G>T (p.Gly837Val) c.2591G>T (p.Gly864Val) c.2609G>T (p.Gly870Val) n.23G>T c.1800+323G>T (n.1800+323G>T) c.1553G>T (p.Gly518Val) c.804G>T n.3609+32G>T n.2188G>T c.2699G>T (p.Gly900Val) n.212-3206G>T c.2747G>T (p.Gly916Val) c.2807G>T (p.Gly936Val) c.2357G>T (p.Gly786Val) c.659G>T (p.Gly220Val) c.2730+323G>T (n.2730+323G>T) c.2429G>T (p.Gly810Val) c.1511G>T (p.Gly504Val) n.3062G>T | ClinVar |
13 | g.51949684C= | CA2091541314 | ATP7B | c.*676G= (n.*676G=) c.*1587G= (n.*1587G=) c.2244+323G= (n.2244+323G=) c.2843G= (p.Gly948=) c.2510G= (p.Gly837=) c.2591G= (p.Gly864=) c.2609G= (p.Gly870=) n.23G= c.1800+323G= (n.1800+323G=) c.1553G= (p.Gly518=) c.804G= n.3609+32G= n.2188G= c.2699G= (p.Gly900=) n.212-3206G= c.2747G= (p.Gly916=) c.2807G= (p.Gly936=) c.2357G= (p.Gly786=) c.659G= (p.Gly220=) c.2730+323G= (n.2730+323G=) c.2429G= (p.Gly810=) c.1511G= (p.Gly504=) n.3062G= | |
13 | g.51949684C>G | CA388033316 | ATP7B | c.*676G>C (n.*676G>C) c.*1587G>C (n.*1587G>C) c.2244+323G>C (n.2244+323G>C) c.2843G>C (p.Gly948Ala) c.2510G>C (p.Gly837Ala) c.2591G>C (p.Gly864Ala) c.2609G>C (p.Gly870Ala) n.23G>C c.1800+323G>C (n.1800+323G>C) c.1553G>C (p.Gly518Ala) c.804G>C n.3609+32G>C n.2188G>C c.2699G>C (p.Gly900Ala) n.212-3206G>C c.2747G>C (p.Gly916Ala) c.2807G>C (p.Gly936Ala) c.2357G>C (p.Gly786Ala) c.659G>C (p.Gly220Ala) c.2730+323G>C (n.2730+323G>C) c.2429G>C (p.Gly810Ala) c.1511G>C (p.Gly504Ala) n.3062G>C | |
13 | g.51949684C>T | CA388033313 | ATP7B | c.*676G>A (n.*676G>A) c.*1587G>A (n.*1587G>A) c.2244+323G>A (n.2244+323G>A) c.2843G>A (p.Gly948Asp) c.2510G>A (p.Gly837Asp) c.2591G>A (p.Gly864Asp) c.2609G>A (p.Gly870Asp) n.23G>A c.1800+323G>A (n.1800+323G>A) c.1553G>A (p.Gly518Asp) c.804G>A n.3609+32G>A n.2188G>A c.2699G>A (p.Gly900Asp) n.212-3206G>A c.2747G>A (p.Gly916Asp) c.2807G>A (p.Gly936Asp) c.2357G>A (p.Gly786Asp) c.659G>A (p.Gly220Asp) c.2730+323G>A (n.2730+323G>A) c.2429G>A (p.Gly810Asp) c.1511G>A (p.Gly504Asp) n.3062G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51949685C>A | CA6988897 | ATP7B | c.*675G>T (n.*675G>T) c.*1586G>T (n.*1586G>T) c.2244+322G>T (n.2244+322G>T) c.2842G>T (p.Gly948Cys) c.2509G>T (p.Gly837Cys) c.2590G>T (p.Gly864Cys) c.2608G>T (p.Gly870Cys) n.22G>T c.1800+322G>T (n.1800+322G>T) c.1552G>T (p.Gly518Cys) c.803G>T n.3609+31G>T n.2187G>T c.2698G>T (p.Gly900Cys) n.212-3207G>T c.2746G>T (p.Gly916Cys) c.2806G>T (p.Gly936Cys) c.2356G>T (p.Gly786Cys) c.658G>T (p.Gly220Cys) c.2730+322G>T (n.2730+322G>T) c.2428G>T (p.Gly810Cys) c.1510G>T (p.Gly504Cys) n.3061G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51949685C= | CA2091541318 | ATP7B | c.*675G= (n.*675G=) c.*1586G= (n.*1586G=) c.2244+322G= (n.2244+322G=) c.2842G= (p.Gly948=) c.2509G= (p.Gly837=) c.2590G= (p.Gly864=) c.2608G= (p.Gly870=) n.22G= c.1800+322G= (n.1800+322G=) c.1552G= (p.Gly518=) c.803G= n.3609+31G= n.2187G= c.2698G= (p.Gly900=) n.212-3207G= c.2746G= (p.Gly916=) c.2806G= (p.Gly936=) c.2356G= (p.Gly786=) c.658G= (p.Gly220=) c.2730+322G= (n.2730+322G=) c.2428G= (p.Gly810=) c.1510G= (p.Gly504=) n.3061G= | |
13 | g.51949685C>G | CA388033329 | ATP7B | c.*675G>C (n.*675G>C) c.*1586G>C (n.*1586G>C) c.2244+322G>C (n.2244+322G>C) c.2842G>C (p.Gly948Arg) c.2509G>C (p.Gly837Arg) c.2590G>C (p.Gly864Arg) c.2608G>C (p.Gly870Arg) n.22G>C c.1800+322G>C (n.1800+322G>C) c.1552G>C (p.Gly518Arg) c.803G>C n.3609+31G>C n.2187G>C c.2698G>C (p.Gly900Arg) n.212-3207G>C c.2746G>C (p.Gly916Arg) c.2806G>C (p.Gly936Arg) c.2356G>C (p.Gly786Arg) c.658G>C (p.Gly220Arg) c.2730+322G>C (n.2730+322G>C) c.2428G>C (p.Gly810Arg) c.1510G>C (p.Gly504Arg) n.3061G>C | |
13 | g.51949685C>T | CA388033325 | ATP7B | c.*675G>A (n.*675G>A) c.*1586G>A (n.*1586G>A) c.2244+322G>A (n.2244+322G>A) c.2842G>A (p.Gly948Ser) c.2509G>A (p.Gly837Ser) c.2590G>A (p.Gly864Ser) c.2608G>A (p.Gly870Ser) n.22G>A c.1800+322G>A (n.1800+322G>A) c.1552G>A (p.Gly518Ser) c.803G>A n.3609+31G>A n.2187G>A c.2698G>A (p.Gly900Ser) n.212-3207G>A c.2746G>A (p.Gly916Ser) c.2806G>A (p.Gly936Ser) c.2356G>A (p.Gly786Ser) c.658G>A (p.Gly220Ser) c.2730+322G>A (n.2730+322G>A) c.2428G>A (p.Gly810Ser) c.1510G>A (p.Gly504Ser) n.3061G>A | dbSNP |
13 | g.51949686A>C | CA388033332 | ATP7B | c.*674T>G (n.*674T>G) c.*1585T>G (n.*1585T>G) c.2244+321T>G (n.2244+321T>G) c.2841T>G (p.Phe947Leu) c.2508T>G (p.Phe836Leu) c.2589T>G (p.Phe863Leu) c.2607T>G (p.Phe869Leu) n.21T>G c.1800+321T>G (n.1800+321T>G) c.1551T>G (p.Phe517Leu) c.802T>G n.3609+30T>G n.2186T>G c.2697T>G (p.Phe899Leu) n.212-3208T>G c.2745T>G (p.Phe915Leu) c.2805T>G (p.Phe935Leu) c.2355T>G (p.Phe785Leu) c.657T>G (p.Phe219Leu) c.2730+321T>G (n.2730+321T>G) c.2427T>G (p.Phe809Leu) c.1509T>G (p.Phe503Leu) n.3060T>G | |
13 | g.51949686A>G | CA484024462 | ATP7B | c.*674T>C (n.*674T>C) c.*1585T>C (n.*1585T>C) c.2244+321T>C (n.2244+321T>C) c.2841T>C (p.Phe947=) c.2508T>C (p.Phe836=) c.2589T>C (p.Phe863=) c.2607T>C (p.Phe869=) n.21T>C c.1800+321T>C (n.1800+321T>C) c.1551T>C (p.Phe517=) c.802T>C n.3609+30T>C n.2186T>C c.2697T>C (p.Phe899=) n.212-3208T>C c.2745T>C (p.Phe915=) c.2805T>C (p.Phe935=) c.2355T>C (p.Phe785=) c.657T>C (p.Phe219=) c.2730+321T>C (n.2730+321T>C) c.2427T>C (p.Phe809=) c.1509T>C (p.Phe503=) n.3060T>C | |
13 | g.51949686A>T | CA388033333 | ATP7B | c.*674T>A (n.*674T>A) c.*1585T>A (n.*1585T>A) c.2244+321T>A (n.2244+321T>A) c.2841T>A (p.Phe947Leu) c.2508T>A (p.Phe836Leu) c.2589T>A (p.Phe863Leu) c.2607T>A (p.Phe869Leu) n.21T>A c.1800+321T>A (n.1800+321T>A) c.1551T>A (p.Phe517Leu) c.802T>A n.3609+30T>A n.2186T>A c.2697T>A (p.Phe899Leu) n.212-3208T>A c.2745T>A (p.Phe915Leu) c.2805T>A (p.Phe935Leu) c.2355T>A (p.Phe785Leu) c.657T>A (p.Phe219Leu) c.2730+321T>A (n.2730+321T>A) c.2427T>A (p.Phe809Leu) c.1509T>A (p.Phe503Leu) n.3060T>A | |
13 | g.51949687A>C | CA388033334 | ATP7B | c.*673T>G (n.*673T>G) c.*1584T>G (n.*1584T>G) c.2244+320T>G (n.2244+320T>G) c.2840T>G (p.Phe947Cys) c.2507T>G (p.Phe836Cys) c.2588T>G (p.Phe863Cys) c.2606T>G (p.Phe869Cys) n.20T>G c.1800+320T>G (n.1800+320T>G) c.1550T>G (p.Phe517Cys) c.801T>G n.3609+29T>G n.2185T>G c.2696T>G (p.Phe899Cys) n.212-3209T>G c.2744T>G (p.Phe915Cys) c.2804T>G (p.Phe935Cys) c.2354T>G (p.Phe785Cys) c.656T>G (p.Phe219Cys) c.2730+320T>G (n.2730+320T>G) c.2426T>G (p.Phe809Cys) c.1508T>G (p.Phe503Cys) n.3059T>G | |
13 | g.51949687A>G | CA388033335 | ATP7B | c.*673T>C (n.*673T>C) c.*1584T>C (n.*1584T>C) c.2244+320T>C (n.2244+320T>C) c.2840T>C (p.Phe947Ser) c.2507T>C (p.Phe836Ser) c.2588T>C (p.Phe863Ser) c.2606T>C (p.Phe869Ser) n.20T>C c.1800+320T>C (n.1800+320T>C) c.1550T>C (p.Phe517Ser) c.801T>C n.3609+29T>C n.2185T>C c.2696T>C (p.Phe899Ser) n.212-3209T>C c.2744T>C (p.Phe915Ser) c.2804T>C (p.Phe935Ser) c.2354T>C (p.Phe785Ser) c.656T>C (p.Phe219Ser) c.2730+320T>C (n.2730+320T>C) c.2426T>C (p.Phe809Ser) c.1508T>C (p.Phe503Ser) n.3059T>C | |
13 | g.51949687A>T | CA388033336 | ATP7B | c.*673T>A (n.*673T>A) c.*1584T>A (n.*1584T>A) c.2244+320T>A (n.2244+320T>A) c.2840T>A (p.Phe947Tyr) c.2507T>A (p.Phe836Tyr) c.2588T>A (p.Phe863Tyr) c.2606T>A (p.Phe869Tyr) n.20T>A c.1800+320T>A (n.1800+320T>A) c.1550T>A (p.Phe517Tyr) c.801T>A n.3609+29T>A n.2185T>A c.2696T>A (p.Phe899Tyr) n.212-3209T>A c.2744T>A (p.Phe915Tyr) c.2804T>A (p.Phe935Tyr) c.2354T>A (p.Phe785Tyr) c.656T>A (p.Phe219Tyr) c.2730+320T>A (n.2730+320T>A) c.2426T>A (p.Phe809Tyr) c.1508T>A (p.Phe503Tyr) n.3059T>A | |
13 | g.51949688A>C | CA388033337 | ATP7B | c.*672T>G (n.*672T>G) c.*1583T>G (n.*1583T>G) c.2244+319T>G (n.2244+319T>G) c.2839T>G (p.Phe947Val) c.2506T>G (p.Phe836Val) c.2587T>G (p.Phe863Val) c.2605T>G (p.Phe869Val) n.19T>G c.1800+319T>G (n.1800+319T>G) c.1549T>G (p.Phe517Val) c.800T>G n.3609+28T>G n.2184T>G c.2695T>G (p.Phe899Val) n.212-3210T>G c.2743T>G (p.Phe915Val) c.2803T>G (p.Phe935Val) c.2353T>G (p.Phe785Val) c.655T>G (p.Phe219Val) c.2730+319T>G (n.2730+319T>G) c.2425T>G (p.Phe809Val) c.1507T>G (p.Phe503Val) n.3058T>G | |
13 | g.51949688A>G | CA388033339 | ATP7B | c.*672T>C (n.*672T>C) c.*1583T>C (n.*1583T>C) c.2244+319T>C (n.2244+319T>C) c.2839T>C (p.Phe947Leu) c.2506T>C (p.Phe836Leu) c.2587T>C (p.Phe863Leu) c.2605T>C (p.Phe869Leu) n.19T>C c.1800+319T>C (n.1800+319T>C) c.1549T>C (p.Phe517Leu) c.800T>C n.3609+28T>C n.2184T>C c.2695T>C (p.Phe899Leu) n.212-3210T>C c.2743T>C (p.Phe915Leu) c.2803T>C (p.Phe935Leu) c.2353T>C (p.Phe785Leu) c.655T>C (p.Phe219Leu) c.2730+319T>C (n.2730+319T>C) c.2425T>C (p.Phe809Leu) c.1507T>C (p.Phe503Leu) n.3058T>C | |
13 | g.51949688A>T | CA388033341 | ATP7B | c.*672T>A (n.*672T>A) c.*1583T>A (n.*1583T>A) c.2244+319T>A (n.2244+319T>A) c.2839T>A (p.Phe947Ile) c.2506T>A (p.Phe836Ile) c.2587T>A (p.Phe863Ile) c.2605T>A (p.Phe869Ile) n.19T>A c.1800+319T>A (n.1800+319T>A) c.1549T>A (p.Phe517Ile) c.800T>A n.3609+28T>A n.2184T>A c.2695T>A (p.Phe899Ile) n.212-3210T>A c.2743T>A (p.Phe915Ile) c.2803T>A (p.Phe935Ile) c.2353T>A (p.Phe785Ile) c.655T>A (p.Phe219Ile) c.2730+319T>A (n.2730+319T>A) c.2425T>A (p.Phe809Ile) c.1507T>A (p.Phe503Ile) n.3058T>A | |
13 | g.51949689A>C | CA388033343 | ATP7B | c.*671T>G (n.*671T>G) c.*1582T>G (n.*1582T>G) c.2244+318T>G (n.2244+318T>G) c.2838T>G (p.Asp946Glu) c.2505T>G (p.Asp835Glu) c.2586T>G (p.Asp862Glu) c.2604T>G (p.Asp868Glu) n.18T>G c.1800+318T>G (n.1800+318T>G) c.1548T>G (p.Asp516Glu) c.799T>G n.3609+27T>G n.2183T>G c.2694T>G (p.Asp898Glu) n.212-3211T>G c.2742T>G (p.Asp914Glu) c.2802T>G (p.Asp934Glu) c.2352T>G (p.Asp784Glu) c.654T>G (p.Asp218Glu) c.2730+318T>G (n.2730+318T>G) c.2424T>G (p.Asp808Glu) c.1506T>G (p.Asp502Glu) n.3057T>G | |
13 | g.51949689A>G | CA484024463 | ATP7B | c.*671T>C (n.*671T>C) c.*1582T>C (n.*1582T>C) c.2244+318T>C (n.2244+318T>C) c.2838T>C (p.Asp946=) c.2505T>C (p.Asp835=) c.2586T>C (p.Asp862=) c.2604T>C (p.Asp868=) n.18T>C c.1800+318T>C (n.1800+318T>C) c.1548T>C (p.Asp516=) c.799T>C n.3609+27T>C n.2183T>C c.2694T>C (p.Asp898=) n.212-3211T>C c.2742T>C (p.Asp914=) c.2802T>C (p.Asp934=) c.2352T>C (p.Asp784=) c.654T>C (p.Asp218=) c.2730+318T>C (n.2730+318T>C) c.2424T>C (p.Asp808=) c.1506T>C (p.Asp502=) n.3057T>C | ClinVar |
13 | g.51949689A>T | CA388033346 | ATP7B | c.*671T>A (n.*671T>A) c.*1582T>A (n.*1582T>A) c.2244+318T>A (n.2244+318T>A) c.2838T>A (p.Asp946Glu) c.2505T>A (p.Asp835Glu) c.2586T>A (p.Asp862Glu) c.2604T>A (p.Asp868Glu) n.18T>A c.1800+318T>A (n.1800+318T>A) c.1548T>A (p.Asp516Glu) c.799T>A n.3609+27T>A n.2183T>A c.2694T>A (p.Asp898Glu) n.212-3211T>A c.2742T>A (p.Asp914Glu) c.2802T>A (p.Asp934Glu) c.2352T>A (p.Asp784Glu) c.654T>A (p.Asp218Glu) c.2730+318T>A (n.2730+318T>A) c.2424T>A (p.Asp808Glu) c.1506T>A (p.Asp502Glu) n.3057T>A | |
13 | g.51949690T>A | CA388033349 | ATP7B | c.*670A>T (n.*670A>T) c.*1581A>T (n.*1581A>T) c.2244+317A>T (n.2244+317A>T) c.2837A>T (p.Asp946Val) c.2504A>T (p.Asp835Val) c.2585A>T (p.Asp862Val) c.2603A>T (p.Asp868Val) n.17A>T c.1800+317A>T (n.1800+317A>T) c.1547A>T (p.Asp516Val) c.798A>T n.3609+26A>T n.2182A>T c.2693A>T (p.Asp898Val) n.212-3212A>T c.2741A>T (p.Asp914Val) c.2801A>T (p.Asp934Val) c.2351A>T (p.Asp784Val) c.653A>T (p.Asp218Val) c.2730+317A>T (n.2730+317A>T) c.2423A>T (p.Asp808Val) c.1505A>T (p.Asp502Val) n.3056A>T | ClinVar dbSNP |
13 | g.51949690T>C | CA388033352 | ATP7B | c.*670A>G (n.*670A>G) c.*1581A>G (n.*1581A>G) c.2244+317A>G (n.2244+317A>G) c.2837A>G (p.Asp946Gly) c.2504A>G (p.Asp835Gly) c.2585A>G (p.Asp862Gly) c.2603A>G (p.Asp868Gly) n.17A>G c.1800+317A>G (n.1800+317A>G) c.1547A>G (p.Asp516Gly) c.798A>G n.3609+26A>G n.2182A>G c.2693A>G (p.Asp898Gly) n.212-3212A>G c.2741A>G (p.Asp914Gly) c.2801A>G (p.Asp934Gly) c.2351A>G (p.Asp784Gly) c.653A>G (p.Asp218Gly) c.2730+317A>G (n.2730+317A>G) c.2423A>G (p.Asp808Gly) c.1505A>G (p.Asp502Gly) n.3056A>G | |
13 | g.51949690T>G | CA388033355 | ATP7B | c.*670A>C (n.*670A>C) c.*1581A>C (n.*1581A>C) c.2244+317A>C (n.2244+317A>C) c.2837A>C (p.Asp946Ala) c.2504A>C (p.Asp835Ala) c.2585A>C (p.Asp862Ala) c.2603A>C (p.Asp868Ala) n.17A>C c.1800+317A>C (n.1800+317A>C) c.1547A>C (p.Asp516Ala) c.798A>C n.3609+26A>C n.2182A>C c.2693A>C (p.Asp898Ala) n.212-3212A>C c.2741A>C (p.Asp914Ala) c.2801A>C (p.Asp934Ala) c.2351A>C (p.Asp784Ala) c.653A>C (p.Asp218Ala) c.2730+317A>C (n.2730+317A>C) c.2423A>C (p.Asp808Ala) c.1505A>C (p.Asp502Ala) n.3056A>C | |
13 | g.51949691C>A | CA388033360 | ATP7B | c.*669G>T (n.*669G>T) c.*1580G>T (n.*1580G>T) c.2244+316G>T (n.2244+316G>T) c.2836G>T (p.Asp946Tyr) c.2503G>T (p.Asp835Tyr) c.2584G>T (p.Asp862Tyr) c.2602G>T (p.Asp868Tyr) n.16G>T c.1800+316G>T (n.1800+316G>T) c.1546G>T (p.Asp516Tyr) c.797G>T n.3609+25G>T n.2181G>T c.2692G>T (p.Asp898Tyr) n.212-3213G>T c.2740G>T (p.Asp914Tyr) c.2800G>T (p.Asp934Tyr) c.2350G>T (p.Asp784Tyr) c.652G>T (p.Asp218Tyr) c.2730+316G>T (n.2730+316G>T) c.2422G>T (p.Asp808Tyr) c.1504G>T (p.Asp502Tyr) n.3055G>T | |
13 | g.51949691C= | CA2091541323 | ATP7B | c.*669G= (n.*669G=) c.*1580G= (n.*1580G=) c.2244+316G= (n.2244+316G=) c.2836G= (p.Asp946=) c.2503G= (p.Asp835=) c.2584G= (p.Asp862=) c.2602G= (p.Asp868=) n.16G= c.1800+316G= (n.1800+316G=) c.1546G= (p.Asp516=) c.797G= n.3609+25G= n.2181G= c.2692G= (p.Asp898=) n.212-3213G= c.2740G= (p.Asp914=) c.2800G= (p.Asp934=) c.2350G= (p.Asp784=) c.652G= (p.Asp218=) c.2730+316G= (n.2730+316G=) c.2422G= (p.Asp808=) c.1504G= (p.Asp502=) n.3055G= | |
13 | g.51949691C>G | CA388033363 | ATP7B | c.*669G>C (n.*669G>C) c.*1580G>C (n.*1580G>C) c.2244+316G>C (n.2244+316G>C) c.2836G>C (p.Asp946His) c.2503G>C (p.Asp835His) c.2584G>C (p.Asp862His) c.2602G>C (p.Asp868His) n.16G>C c.1800+316G>C (n.1800+316G>C) c.1546G>C (p.Asp516His) c.797G>C n.3609+25G>C n.2181G>C c.2692G>C (p.Asp898His) n.212-3213G>C c.2740G>C (p.Asp914His) c.2800G>C (p.Asp934His) c.2350G>C (p.Asp784His) c.652G>C (p.Asp218His) c.2730+316G>C (n.2730+316G>C) c.2422G>C (p.Asp808His) c.1504G>C (p.Asp502His) n.3055G>C | gnomAD v4 |
13 | g.51949691C>T | CA6988898 | ATP7B | c.*669G>A (n.*669G>A) c.*1580G>A (n.*1580G>A) c.2244+316G>A (n.2244+316G>A) c.2836G>A (p.Asp946Asn) c.2503G>A (p.Asp835Asn) c.2584G>A (p.Asp862Asn) c.2602G>A (p.Asp868Asn) n.16G>A c.1800+316G>A (n.1800+316G>A) c.1546G>A (p.Asp516Asn) c.797G>A n.3609+25G>A n.2181G>A c.2692G>A (p.Asp898Asn) n.212-3213G>A c.2740G>A (p.Asp914Asn) c.2800G>A (p.Asp934Asn) c.2350G>A (p.Asp784Asn) c.652G>A (p.Asp218Asn) c.2730+316G>A (n.2730+316G>A) c.2422G>A (p.Asp808Asn) c.1504G>A (p.Asp502Asn) n.3055G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51949692G>A | CA6988899 | ATP7B | c.*668C>T (n.*668C>T) c.*1579C>T (n.*1579C>T) c.2244+315C>T (n.2244+315C>T) c.2835C>T (p.Ile945=) c.2502C>T (p.Ile834=) c.2583C>T (p.Ile861=) c.2601C>T (p.Ile867=) n.15C>T c.1800+315C>T (n.1800+315C>T) c.1545C>T (p.Ile515=) c.796C>T n.3609+24C>T n.2180C>T c.2691C>T (p.Ile897=) n.212-3214C>T c.2739C>T (p.Ile913=) c.2799C>T (p.Ile933=) c.2349C>T (p.Ile783=) c.651C>T (p.Ile217=) c.2730+315C>T (n.2730+315C>T) c.2421C>T (p.Ile807=) c.1503C>T (p.Ile501=) n.3054C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.51949692G>C | CA388033366 | ATP7B | c.*668C>G (n.*668C>G) c.*1579C>G (n.*1579C>G) c.2244+315C>G (n.2244+315C>G) c.2835C>G (p.Ile945Met) c.2502C>G (p.Ile834Met) c.2583C>G (p.Ile861Met) c.2601C>G (p.Ile867Met) n.15C>G c.1800+315C>G (n.1800+315C>G) c.1545C>G (p.Ile515Met) c.796C>G n.3609+24C>G n.2180C>G c.2691C>G (p.Ile897Met) n.212-3214C>G c.2739C>G (p.Ile913Met) c.2799C>G (p.Ile933Met) c.2349C>G (p.Ile783Met) c.651C>G (p.Ile217Met) c.2730+315C>G (n.2730+315C>G) c.2421C>G (p.Ile807Met) c.1503C>G (p.Ile501Met) n.3054C>G | |
13 | g.51949692G= | CA2091541327 | ATP7B | c.*668C= (n.*668C=) c.*1579C= (n.*1579C=) c.2244+315C= (n.2244+315C=) c.2835C= (p.Ile945=) c.2502C= (p.Ile834=) c.2583C= (p.Ile861=) c.2601C= (p.Ile867=) n.15C= c.1800+315C= (n.1800+315C=) c.1545C= (p.Ile515=) c.796C= n.3609+24C= n.2180C= c.2691C= (p.Ile897=) n.212-3214C= c.2739C= (p.Ile913=) c.2799C= (p.Ile933=) c.2349C= (p.Ile783=) c.651C= (p.Ile217=) c.2730+315C= (n.2730+315C=) c.2421C= (p.Ile807=) c.1503C= (p.Ile501=) n.3054C= | |
13 | g.51949692G>T | CA484024464 | ATP7B | c.*668C>A (n.*668C>A) c.*1579C>A (n.*1579C>A) c.2244+315C>A (n.2244+315C>A) c.2835C>A (p.Ile945=) c.2502C>A (p.Ile834=) c.2583C>A (p.Ile861=) c.2601C>A (p.Ile867=) n.15C>A c.1800+315C>A (n.1800+315C>A) c.1545C>A (p.Ile515=) c.796C>A n.3609+24C>A n.2180C>A c.2691C>A (p.Ile897=) n.212-3214C>A c.2739C>A (p.Ile913=) c.2799C>A (p.Ile933=) c.2349C>A (p.Ile783=) c.651C>A (p.Ile217=) c.2730+315C>A (n.2730+315C>A) c.2421C>A (p.Ile807=) c.1503C>A (p.Ile501=) n.3054C>A | |
13 | g.51949693A>C | CA388033370 | ATP7B | c.*667T>G (n.*667T>G) c.*1578T>G (n.*1578T>G) c.2244+314T>G (n.2244+314T>G) c.2834T>G (p.Ile945Ser) c.2501T>G (p.Ile834Ser) c.2582T>G (p.Ile861Ser) c.2600T>G (p.Ile867Ser) n.14T>G c.1800+314T>G (n.1800+314T>G) c.1544T>G (p.Ile515Ser) c.795T>G n.3609+23T>G n.2179T>G c.2690T>G (p.Ile897Ser) n.212-3215T>G c.2738T>G (p.Ile913Ser) c.2798T>G (p.Ile933Ser) c.2348T>G (p.Ile783Ser) c.650T>G (p.Ile217Ser) c.2730+314T>G (n.2730+314T>G) c.2420T>G (p.Ile807Ser) c.1502T>G (p.Ile501Ser) n.3053T>G | |
13 | g.51949693A>G | CA388033372 | ATP7B | c.*667T>C (n.*667T>C) c.*1578T>C (n.*1578T>C) c.2244+314T>C (n.2244+314T>C) c.2834T>C (p.Ile945Thr) c.2501T>C (p.Ile834Thr) c.2582T>C (p.Ile861Thr) c.2600T>C (p.Ile867Thr) n.14T>C c.1800+314T>C (n.1800+314T>C) c.1544T>C (p.Ile515Thr) c.795T>C n.3609+23T>C n.2179T>C c.2690T>C (p.Ile897Thr) n.212-3215T>C c.2738T>C (p.Ile913Thr) c.2798T>C (p.Ile933Thr) c.2348T>C (p.Ile783Thr) c.650T>C (p.Ile217Thr) c.2730+314T>C (n.2730+314T>C) c.2420T>C (p.Ile807Thr) c.1502T>C (p.Ile501Thr) n.3053T>C | |
13 | g.51949693A>T | CA388033375 | ATP7B | c.*667T>A (n.*667T>A) c.*1578T>A (n.*1578T>A) c.2244+314T>A (n.2244+314T>A) c.2834T>A (p.Ile945Asn) c.2501T>A (p.Ile834Asn) c.2582T>A (p.Ile861Asn) c.2600T>A (p.Ile867Asn) n.14T>A c.1800+314T>A (n.1800+314T>A) c.1544T>A (p.Ile515Asn) c.795T>A n.3609+23T>A n.2179T>A c.2690T>A (p.Ile897Asn) n.212-3215T>A c.2738T>A (p.Ile913Asn) c.2798T>A (p.Ile933Asn) c.2348T>A (p.Ile783Asn) c.650T>A (p.Ile217Asn) c.2730+314T>A (n.2730+314T>A) c.2420T>A (p.Ile807Asn) c.1502T>A (p.Ile501Asn) n.3053T>A | |
13 | g.51949694T>A | CA388033376 | ATP7B | c.*666A>T (n.*666A>T) c.*1577A>T (n.*1577A>T) c.2244+313A>T (n.2244+313A>T) c.2833A>T (p.Ile945Phe) c.2500A>T (p.Ile834Phe) c.2581A>T (p.Ile861Phe) c.2599A>T (p.Ile867Phe) n.13A>T c.1800+313A>T (n.1800+313A>T) c.1543A>T (p.Ile515Phe) c.794A>T n.3609+22A>T n.2178A>T c.2689A>T (p.Ile897Phe) n.212-3216A>T c.2737A>T (p.Ile913Phe) c.2797A>T (p.Ile933Phe) c.2347A>T (p.Ile783Phe) c.649A>T (p.Ile217Phe) c.2730+313A>T (n.2730+313A>T) c.2419A>T (p.Ile807Phe) c.1501A>T (p.Ile501Phe) n.3052A>T | |
13 | g.51949694T>C | CA6988900 | ATP7B | c.*666A>G (n.*666A>G) c.*1577A>G (n.*1577A>G) c.2244+313A>G (n.2244+313A>G) c.2833A>G (p.Ile945Val) c.2500A>G (p.Ile834Val) c.2581A>G (p.Ile861Val) c.2599A>G (p.Ile867Val) n.13A>G c.1800+313A>G (n.1800+313A>G) c.1543A>G (p.Ile515Val) c.794A>G n.3609+22A>G n.2178A>G c.2689A>G (p.Ile897Val) n.212-3216A>G c.2737A>G (p.Ile913Val) c.2797A>G (p.Ile933Val) c.2347A>G (p.Ile783Val) c.649A>G (p.Ile217Val) c.2730+313A>G (n.2730+313A>G) c.2419A>G (p.Ile807Val) c.1501A>G (p.Ile501Val) n.3052A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.51949694T>G | CA388033377 | ATP7B | c.*666A>C (n.*666A>C) c.*1577A>C (n.*1577A>C) c.2244+313A>C (n.2244+313A>C) c.2833A>C (p.Ile945Leu) c.2500A>C (p.Ile834Leu) c.2581A>C (p.Ile861Leu) c.2599A>C (p.Ile867Leu) n.13A>C c.1800+313A>C (n.1800+313A>C) c.1543A>C (p.Ile515Leu) c.794A>C n.3609+22A>C n.2178A>C c.2689A>C (p.Ile897Leu) n.212-3216A>C c.2737A>C (p.Ile913Leu) c.2797A>C (p.Ile933Leu) c.2347A>C (p.Ile783Leu) c.649A>C (p.Ile217Leu) c.2730+313A>C (n.2730+313A>C) c.2419A>C (p.Ile807Leu) c.1501A>C (p.Ile501Leu) n.3052A>C | |
13 | g.51949694T= | CA2091541329 | ATP7B | c.*666A= (n.*666A=) c.*1577A= (n.*1577A=) c.2244+313A= (n.2244+313A=) c.2833A= (p.Ile945=) c.2500A= (p.Ile834=) c.2581A= (p.Ile861=) c.2599A= (p.Ile867=) n.13A= c.1800+313A= (n.1800+313A=) c.1543A= (p.Ile515=) c.794A= n.3609+22A= n.2178A= c.2689A= (p.Ile897=) n.212-3216A= c.2737A= (p.Ile913=) c.2797A= (p.Ile933=) c.2347A= (p.Ile783=) c.649A= (p.Ile217=) c.2730+313A= (n.2730+313A=) c.2419A= (p.Ile807=) c.1501A= (p.Ile501=) n.3052A= | |
13 | g.51949694_51949701del | CA912974800 | ATP7B | c.*659_*666del (n.*659_*666del) c.*1570_*1577del (n.*1570_*1577del) c.2244+306_2244+313del (n.2244+306_2244+313del) c.2826_2833del (p.Gly943ArgfsTer11) c.2493_2500del (p.Gly832ArgfsTer11) c.2574_2581del (p.Gly859ArgfsTer11) c.2592_2599del (p.Gly865ArgfsTer11) n.6_13del c.1800+306_1800+313del (n.1800+306_1800+313del) c.1536_1543del (p.Gly513ArgfsTer11) c.2826_2833del (p.Gly943ArgfsTer17) c.787_794del c.2592_2599del (p.Gly865ArgfsTer?) n.3609+15_3609+22del n.2171_2178del c.2682_2689del (p.Gly895ArgfsTer11) n.212-3223_212-3216del c.2730_2737del (p.Gly911ArgfsTer11) c.2790_2797del (p.Gly931ArgfsTer11) c.2340_2347del (p.Gly781ArgfsTer11) c.642_649del (p.Gly215ArgfsTer11) c.2730+306_2730+313del (n.2730+306_2730+313del) c.2412_2419del (p.Gly805ArgfsTer11) c.1494_1501del (p.Gly499ArgfsTer11) n.3045_3052del | |
13 | g.51949694_51949701delinsTAAAACCG | CA2091541330 | ATP7B | c.*659_*666delinsCGGTTTTA (n.*659_*666delinsCGGTTTTA) c.*1570_*1577delinsCGGTTTTA (n.*1570_*1577delinsCGGTTTTA) c.2244+306_2244+313delinsCGGTTTTA (n.2244+306_2244+313delinsCGGTTTTA) c.2826_2833delinsCGGTTTTA (p.Ile942=) c.2493_2500delinsCGGTTTTA (p.Ile831=) c.2574_2581delinsCGGTTTTA (p.Ile858=) c.2592_2599delinsCGGTTTTA (p.Ile864=) n.6_13delinsCGGTTTTA c.1800+306_1800+313delinsCGGTTTTA (n.1800+306_1800+313delinsCGGTTTTA) c.1536_1543delinsCGGTTTTA (p.Ile512=) c.787_794delinsCGGTTTTA n.3609+15_3609+22delinsCGGTTTTA n.2171_2178delinsCGGTTTTA c.2682_2689delinsCGGTTTTA (p.Ile894=) n.212-3223_212-3216delinsCGGTTTTA c.2730_2737delinsCGGTTTTA (p.Ile910=) c.2790_2797delinsCGGTTTTA (p.Ile930=) c.2340_2347delinsCGGTTTTA (p.Ile780=) c.642_649delinsCGGTTTTA (p.Ile214=) c.2730+306_2730+313delinsCGGTTTTA (n.2730+306_2730+313delinsCGGTTTTA) c.2412_2419delinsCGGTTTTA (p.Ile804=) c.1494_1501delinsCGGTTTTA (p.Ile498=) n.3045_3052delinsCGGTTTTA | |
13 | g.51949695A= | CA2091541337 | ATP7B | c.*665T= (n.*665T=) c.*1576T= (n.*1576T=) c.2244+312T= (n.2244+312T=) c.2832T= (p.Phe944=) c.2499T= (p.Phe833=) c.2580T= (p.Phe860=) c.2598T= (p.Phe866=) n.12T= c.1800+312T= (n.1800+312T=) c.1542T= (p.Phe514=) c.793T= n.3609+21T= n.2177T= c.2688T= (p.Phe896=) n.212-3217T= c.2736T= (p.Phe912=) c.2796T= (p.Phe932=) c.2346T= (p.Phe782=) c.648T= (p.Phe216=) c.2730+312T= (n.2730+312T=) c.2418T= (p.Phe806=) c.1500T= (p.Phe500=) n.3051T= | |
13 | g.51949695A>C | CA388033378 | ATP7B | c.*665T>G (n.*665T>G) c.*1576T>G (n.*1576T>G) c.2244+312T>G (n.2244+312T>G) c.2832T>G (p.Phe944Leu) c.2499T>G (p.Phe833Leu) c.2580T>G (p.Phe860Leu) c.2598T>G (p.Phe866Leu) n.12T>G c.1800+312T>G (n.1800+312T>G) c.1542T>G (p.Phe514Leu) c.793T>G n.3609+21T>G n.2177T>G c.2688T>G (p.Phe896Leu) n.212-3217T>G c.2736T>G (p.Phe912Leu) c.2796T>G (p.Phe932Leu) c.2346T>G (p.Phe782Leu) c.648T>G (p.Phe216Leu) c.2730+312T>G (n.2730+312T>G) c.2418T>G (p.Phe806Leu) c.1500T>G (p.Phe500Leu) n.3051T>G | |
13 | g.51949695A>G | CA484024468 | ATP7B | c.*665T>C (n.*665T>C) c.*1576T>C (n.*1576T>C) c.2244+312T>C (n.2244+312T>C) c.2832T>C (p.Phe944=) c.2499T>C (p.Phe833=) c.2580T>C (p.Phe860=) c.2598T>C (p.Phe866=) n.12T>C c.1800+312T>C (n.1800+312T>C) c.1542T>C (p.Phe514=) c.793T>C n.3609+21T>C n.2177T>C c.2688T>C (p.Phe896=) n.212-3217T>C c.2736T>C (p.Phe912=) c.2796T>C (p.Phe932=) c.2346T>C (p.Phe782=) c.648T>C (p.Phe216=) c.2730+312T>C (n.2730+312T>C) c.2418T>C (p.Phe806=) c.1500T>C (p.Phe500=) n.3051T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51949695A>T | CA388033379 | ATP7B | c.*665T>A (n.*665T>A) c.*1576T>A (n.*1576T>A) c.2244+312T>A (n.2244+312T>A) c.2832T>A (p.Phe944Leu) c.2499T>A (p.Phe833Leu) c.2580T>A (p.Phe860Leu) c.2598T>A (p.Phe866Leu) n.12T>A c.1800+312T>A (n.1800+312T>A) c.1542T>A (p.Phe514Leu) c.793T>A n.3609+21T>A n.2177T>A c.2688T>A (p.Phe896Leu) n.212-3217T>A c.2736T>A (p.Phe912Leu) c.2796T>A (p.Phe932Leu) c.2346T>A (p.Phe782Leu) c.648T>A (p.Phe216Leu) c.2730+312T>A (n.2730+312T>A) c.2418T>A (p.Phe806Leu) c.1500T>A (p.Phe500Leu) n.3051T>A | |
13 | g.51949696_51949702del | CA658823707 | ATP7B | c.*659_*665del (n.*659_*665del) c.*1570_*1576del (n.*1570_*1576del) c.2244+306_2244+312del (n.2244+306_2244+312del) c.2826_2832del (p.Gly943SerfsTer22) c.2493_2499del (p.Gly832SerfsTer22) c.2574_2580del (p.Gly859SerfsTer22) c.2592_2598del (p.Gly865SerfsTer22) n.6_12del c.1800+306_1800+312del (n.1800+306_1800+312del) c.1536_1542del (p.Gly513SerfsTer22) c.2826_2832del (p.Gly943SerfsTer12) c.787_793del c.2592_2598del (p.Gly865SerfsTer17) n.3609+15_3609+21del n.2171_2177del c.2682_2688del (p.Gly895SerfsTer22) n.212-3223_212-3217del c.2730_2736del (p.Gly911SerfsTer22) c.2790_2796del (p.Gly931SerfsTer22) c.2340_2346del (p.Gly781SerfsTer22) c.642_648del (p.Gly215SerfsTer22) c.2730+306_2730+312del (n.2730+306_2730+312del) c.2412_2418del (p.Gly805SerfsTer22) c.1494_1500del (p.Gly499SerfsTer22) n.3045_3051del | ClinVar dbSNP |
13 | g.51949696A>C | CA388033387 | ATP7B | c.*664T>G (n.*664T>G) c.*1575T>G (n.*1575T>G) c.2244+311T>G (n.2244+311T>G) c.2831T>G (p.Phe944Cys) c.2498T>G (p.Phe833Cys) c.2579T>G (p.Phe860Cys) c.2597T>G (p.Phe866Cys) n.11T>G c.1800+311T>G (n.1800+311T>G) c.1541T>G (p.Phe514Cys) c.792T>G n.3609+20T>G n.2176T>G c.2687T>G (p.Phe896Cys) n.212-3218T>G c.2735T>G (p.Phe912Cys) c.2795T>G (p.Phe932Cys) c.2345T>G (p.Phe782Cys) c.647T>G (p.Phe216Cys) c.2730+311T>G (n.2730+311T>G) c.2417T>G (p.Phe806Cys) c.1499T>G (p.Phe500Cys) n.3050T>G | |
13 | g.51949696A>G | CA388033385 | ATP7B | c.*664T>C (n.*664T>C) c.*1575T>C (n.*1575T>C) c.2244+311T>C (n.2244+311T>C) c.2831T>C (p.Phe944Ser) c.2498T>C (p.Phe833Ser) c.2579T>C (p.Phe860Ser) c.2597T>C (p.Phe866Ser) n.11T>C c.1800+311T>C (n.1800+311T>C) c.1541T>C (p.Phe514Ser) c.792T>C n.3609+20T>C n.2176T>C c.2687T>C (p.Phe896Ser) n.212-3218T>C c.2735T>C (p.Phe912Ser) c.2795T>C (p.Phe932Ser) c.2345T>C (p.Phe782Ser) c.647T>C (p.Phe216Ser) c.2730+311T>C (n.2730+311T>C) c.2417T>C (p.Phe806Ser) c.1499T>C (p.Phe500Ser) n.3050T>C | |
13 | g.51949696A>T | CA388033382 | ATP7B | c.*664T>A (n.*664T>A) c.*1575T>A (n.*1575T>A) c.2244+311T>A (n.2244+311T>A) c.2831T>A (p.Phe944Tyr) c.2498T>A (p.Phe833Tyr) c.2579T>A (p.Phe860Tyr) c.2597T>A (p.Phe866Tyr) n.11T>A c.1800+311T>A (n.1800+311T>A) c.1541T>A (p.Phe514Tyr) c.792T>A n.3609+20T>A n.2176T>A c.2687T>A (p.Phe896Tyr) n.212-3218T>A c.2735T>A (p.Phe912Tyr) c.2795T>A (p.Phe932Tyr) c.2345T>A (p.Phe782Tyr) c.647T>A (p.Phe216Tyr) c.2730+311T>A (n.2730+311T>A) c.2417T>A (p.Phe806Tyr) c.1499T>A (p.Phe500Tyr) n.3050T>A | gnomAD v4 |
13 | g.51949697A>C | CA388033399 | ATP7B | c.*663T>G (n.*663T>G) c.*1574T>G (n.*1574T>G) c.2244+310T>G (n.2244+310T>G) c.2830T>G (p.Phe944Val) c.2497T>G (p.Phe833Val) c.2578T>G (p.Phe860Val) c.2596T>G (p.Phe866Val) n.10T>G c.1800+310T>G (n.1800+310T>G) c.1540T>G (p.Phe514Val) c.791T>G n.3609+19T>G n.2175T>G c.2686T>G (p.Phe896Val) n.212-3219T>G c.2734T>G (p.Phe912Val) c.2794T>G (p.Phe932Val) c.2344T>G (p.Phe782Val) c.646T>G (p.Phe216Val) c.2730+310T>G (n.2730+310T>G) c.2416T>G (p.Phe806Val) c.1498T>G (p.Phe500Val) n.3049T>G | gnomAD v4 |
13 | g.51949697A>G | CA388033403 | ATP7B | c.*663T>C (n.*663T>C) c.*1574T>C (n.*1574T>C) c.2244+310T>C (n.2244+310T>C) c.2830T>C (p.Phe944Leu) c.2497T>C (p.Phe833Leu) c.2578T>C (p.Phe860Leu) c.2596T>C (p.Phe866Leu) n.10T>C c.1800+310T>C (n.1800+310T>C) c.1540T>C (p.Phe514Leu) c.791T>C n.3609+19T>C n.2175T>C c.2686T>C (p.Phe896Leu) n.212-3219T>C c.2734T>C (p.Phe912Leu) c.2794T>C (p.Phe932Leu) c.2344T>C (p.Phe782Leu) c.646T>C (p.Phe216Leu) c.2730+310T>C (n.2730+310T>C) c.2416T>C (p.Phe806Leu) c.1498T>C (p.Phe500Leu) n.3049T>C | |
13 | g.51949697A>T | CA388033406 | ATP7B | c.*663T>A (n.*663T>A) c.*1574T>A (n.*1574T>A) c.2244+310T>A (n.2244+310T>A) c.2830T>A (p.Phe944Ile) c.2497T>A (p.Phe833Ile) c.2578T>A (p.Phe860Ile) c.2596T>A (p.Phe866Ile) n.10T>A c.1800+310T>A (n.1800+310T>A) c.1540T>A (p.Phe514Ile) c.791T>A n.3609+19T>A n.2175T>A c.2686T>A (p.Phe896Ile) n.212-3219T>A c.2734T>A (p.Phe912Ile) c.2794T>A (p.Phe932Ile) c.2344T>A (p.Phe782Ile) c.646T>A (p.Phe216Ile) c.2730+310T>A (n.2730+310T>A) c.2416T>A (p.Phe806Ile) c.1498T>A (p.Phe500Ile) n.3049T>A | |
13 | g.51949698A>C | CA484024476 | ATP7B | c.*662T>G (n.*662T>G) c.*1573T>G (n.*1573T>G) c.2244+309T>G (n.2244+309T>G) c.2829T>G (p.Gly943=) c.2496T>G (p.Gly832=) c.2577T>G (p.Gly859=) c.2595T>G (p.Gly865=) n.9T>G c.1800+309T>G (n.1800+309T>G) c.1539T>G (p.Gly513=) c.790T>G n.3609+18T>G n.2174T>G c.2685T>G (p.Gly895=) n.212-3220T>G c.2733T>G (p.Gly911=) c.2793T>G (p.Gly931=) c.2343T>G (p.Gly781=) c.645T>G (p.Gly215=) c.2730+309T>G (n.2730+309T>G) c.2415T>G (p.Gly805=) c.1497T>G (p.Gly499=) n.3048T>G | |
13 | g.51949698A>G | CA484024474 | ATP7B | c.*662T>C (n.*662T>C) c.*1573T>C (n.*1573T>C) c.2244+309T>C (n.2244+309T>C) c.2829T>C (p.Gly943=) c.2496T>C (p.Gly832=) c.2577T>C (p.Gly859=) c.2595T>C (p.Gly865=) n.9T>C c.1800+309T>C (n.1800+309T>C) c.1539T>C (p.Gly513=) c.790T>C n.3609+18T>C n.2174T>C c.2685T>C (p.Gly895=) n.212-3220T>C c.2733T>C (p.Gly911=) c.2793T>C (p.Gly931=) c.2343T>C (p.Gly781=) c.645T>C (p.Gly215=) c.2730+309T>C (n.2730+309T>C) c.2415T>C (p.Gly805=) c.1497T>C (p.Gly499=) n.3048T>C | ClinVar |
13 | g.51949698A>T | CA484024475 | ATP7B | c.*662T>A (n.*662T>A) c.*1573T>A (n.*1573T>A) c.2244+309T>A (n.2244+309T>A) c.2829T>A (p.Gly943=) c.2496T>A (p.Gly832=) c.2577T>A (p.Gly859=) c.2595T>A (p.Gly865=) n.9T>A c.1800+309T>A (n.1800+309T>A) c.1539T>A (p.Gly513=) c.790T>A n.3609+18T>A n.2174T>A c.2685T>A (p.Gly895=) n.212-3220T>A c.2733T>A (p.Gly911=) c.2793T>A (p.Gly931=) c.2343T>A (p.Gly781=) c.645T>A (p.Gly215=) c.2730+309T>A (n.2730+309T>A) c.2415T>A (p.Gly805=) c.1497T>A (p.Gly499=) n.3048T>A | |
13 | g.51949699C>A | CA388033408 | ATP7B | c.*661G>T (n.*661G>T) c.*1572G>T (n.*1572G>T) c.2244+308G>T (n.2244+308G>T) c.2828G>T (p.Gly943Val) c.2495G>T (p.Gly832Val) c.2576G>T (p.Gly859Val) c.2594G>T (p.Gly865Val) n.8G>T c.1800+308G>T (n.1800+308G>T) c.1538G>T (p.Gly513Val) c.789G>T n.3609+17G>T n.2173G>T c.2684G>T (p.Gly895Val) n.212-3221G>T c.2732G>T (p.Gly911Val) c.2792G>T (p.Gly931Val) c.2342G>T (p.Gly781Val) c.644G>T (p.Gly215Val) c.2730+308G>T (n.2730+308G>T) c.2414G>T (p.Gly805Val) c.1496G>T (p.Gly499Val) n.3047G>T | |
13 | g.51949699C= | CA2091541344 | ATP7B | c.*661G= (n.*661G=) c.*1572G= (n.*1572G=) c.2244+308G= (n.2244+308G=) c.2828G= (p.Gly943=) c.2495G= (p.Gly832=) c.2576G= (p.Gly859=) c.2594G= (p.Gly865=) n.8G= c.1800+308G= (n.1800+308G=) c.1538G= (p.Gly513=) c.789G= n.3609+17G= n.2173G= c.2684G= (p.Gly895=) n.212-3221G= c.2732G= (p.Gly911=) c.2792G= (p.Gly931=) c.2342G= (p.Gly781=) c.644G= (p.Gly215=) c.2730+308G= (n.2730+308G=) c.2414G= (p.Gly805=) c.1496G= (p.Gly499=) n.3047G= | |
13 | g.51949699C>G | CA388033411 | ATP7B | c.*661G>C (n.*661G>C) c.*1572G>C (n.*1572G>C) c.2244+308G>C (n.2244+308G>C) c.2828G>C (p.Gly943Ala) c.2495G>C (p.Gly832Ala) c.2576G>C (p.Gly859Ala) c.2594G>C (p.Gly865Ala) n.8G>C c.1800+308G>C (n.1800+308G>C) c.1538G>C (p.Gly513Ala) c.789G>C n.3609+17G>C n.2173G>C c.2684G>C (p.Gly895Ala) n.212-3221G>C c.2732G>C (p.Gly911Ala) c.2792G>C (p.Gly931Ala) c.2342G>C (p.Gly781Ala) c.644G>C (p.Gly215Ala) c.2730+308G>C (n.2730+308G>C) c.2414G>C (p.Gly805Ala) c.1496G>C (p.Gly499Ala) n.3047G>C | |
13 | g.51949699C>T | CA274329 | ATP7B | c.*661G>A (n.*661G>A) c.*1572G>A (n.*1572G>A) c.2244+308G>A (n.2244+308G>A) c.2828G>A (p.Gly943Asp) c.2495G>A (p.Gly832Asp) c.2576G>A (p.Gly859Asp) c.2594G>A (p.Gly865Asp) n.8G>A c.1800+308G>A (n.1800+308G>A) c.1538G>A (p.Gly513Asp) c.789G>A n.3609+17G>A n.2173G>A c.2684G>A (p.Gly895Asp) n.212-3221G>A c.2732G>A (p.Gly911Asp) c.2792G>A (p.Gly931Asp) c.2342G>A (p.Gly781Asp) c.644G>A (p.Gly215Asp) c.2730+308G>A (n.2730+308G>A) c.2414G>A (p.Gly805Asp) c.1496G>A (p.Gly499Asp) n.3047G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51949700C>A | CA388033415 | ATP7B | c.*660G>T (n.*660G>T) c.*1571G>T (n.*1571G>T) c.2244+307G>T (n.2244+307G>T) c.2827G>T (p.Gly943Cys) c.2494G>T (p.Gly832Cys) c.2575G>T (p.Gly859Cys) c.2593G>T (p.Gly865Cys) n.7G>T c.1800+307G>T (n.1800+307G>T) c.1537G>T (p.Gly513Cys) c.788G>T n.3609+16G>T n.2172G>T c.2683G>T (p.Gly895Cys) n.212-3222G>T c.2731G>T (p.Gly911Cys) c.2791G>T (p.Gly931Cys) c.2341G>T (p.Gly781Cys) c.643G>T (p.Gly215Cys) c.2730+307G>T (n.2730+307G>T) c.2413G>T (p.Gly805Cys) c.1495G>T (p.Gly499Cys) n.3046G>T | ClinVar dbSNP gnomAD v4 |
13 | g.51949700C= | CA2091541351 | ATP7B | c.*660G= (n.*660G=) c.*1571G= (n.*1571G=) c.2244+307G= (n.2244+307G=) c.2827G= (p.Gly943=) c.2494G= (p.Gly832=) c.2575G= (p.Gly859=) c.2593G= (p.Gly865=) n.7G= c.1800+307G= (n.1800+307G=) c.1537G= (p.Gly513=) c.788G= n.3609+16G= n.2172G= c.2683G= (p.Gly895=) n.212-3222G= c.2731G= (p.Gly911=) c.2791G= (p.Gly931=) c.2341G= (p.Gly781=) c.643G= (p.Gly215=) c.2730+307G= (n.2730+307G=) c.2413G= (p.Gly805=) c.1495G= (p.Gly499=) n.3046G= | |
13 | g.51949700C>G | CA388033418 | ATP7B | c.*660G>C (n.*660G>C) c.*1571G>C (n.*1571G>C) c.2244+307G>C (n.2244+307G>C) c.2827G>C (p.Gly943Arg) c.2494G>C (p.Gly832Arg) c.2575G>C (p.Gly859Arg) c.2593G>C (p.Gly865Arg) n.7G>C c.1800+307G>C (n.1800+307G>C) c.1537G>C (p.Gly513Arg) c.788G>C n.3609+16G>C n.2172G>C c.2683G>C (p.Gly895Arg) n.212-3222G>C c.2731G>C (p.Gly911Arg) c.2791G>C (p.Gly931Arg) c.2341G>C (p.Gly781Arg) c.643G>C (p.Gly215Arg) c.2730+307G>C (n.2730+307G>C) c.2413G>C (p.Gly805Arg) c.1495G>C (p.Gly499Arg) n.3046G>C | ClinVar dbSNP gnomAD v4 |
13 | g.51949700C>T | CA252894 | ATP7B | c.*660G>A (n.*660G>A) c.*1571G>A (n.*1571G>A) c.2244+307G>A (n.2244+307G>A) c.2827G>A (p.Gly943Ser) c.2494G>A (p.Gly832Ser) c.2575G>A (p.Gly859Ser) c.2593G>A (p.Gly865Ser) n.7G>A c.1800+307G>A (n.1800+307G>A) c.1537G>A (p.Gly513Ser) c.788G>A n.3609+16G>A n.2172G>A c.2683G>A (p.Gly895Ser) n.212-3222G>A c.2731G>A (p.Gly911Ser) c.2791G>A (p.Gly931Ser) c.2341G>A (p.Gly781Ser) c.643G>A (p.Gly215Ser) c.2730+307G>A (n.2730+307G>A) c.2413G>A (p.Gly805Ser) c.1495G>A (p.Gly499Ser) n.3046G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51949701G>A | CA6988901 | ATP7B | c.*659C>T (n.*659C>T) c.*1570C>T (n.*1570C>T) c.2244+306C>T (n.2244+306C>T) c.2826C>T (p.Ile942=) c.2493C>T (p.Ile831=) c.2574C>T (p.Ile858=) c.2592C>T (p.Ile864=) n.6C>T c.1800+306C>T (n.1800+306C>T) c.1536C>T (p.Ile512=) c.787C>T n.3609+15C>T n.2171C>T c.2682C>T (p.Ile894=) n.212-3223C>T c.2730C>T (p.Ile910=) c.2790C>T (p.Ile930=) c.2340C>T (p.Ile780=) c.642C>T (p.Ile214=) c.2730+306C>T (n.2730+306C>T) c.2412C>T (p.Ile804=) c.1494C>T (p.Ile498=) n.3045C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51949701G>C | CA388033423 | ATP7B | c.*659C>G (n.*659C>G) c.*1570C>G (n.*1570C>G) c.2244+306C>G (n.2244+306C>G) c.2826C>G (p.Ile942Met) c.2493C>G (p.Ile831Met) c.2574C>G (p.Ile858Met) c.2592C>G (p.Ile864Met) n.6C>G c.1800+306C>G (n.1800+306C>G) c.1536C>G (p.Ile512Met) c.787C>G n.3609+15C>G n.2171C>G c.2682C>G (p.Ile894Met) n.212-3223C>G c.2730C>G (p.Ile910Met) c.2790C>G (p.Ile930Met) c.2340C>G (p.Ile780Met) c.642C>G (p.Ile214Met) c.2730+306C>G (n.2730+306C>G) c.2412C>G (p.Ile804Met) c.1494C>G (p.Ile498Met) n.3045C>G | |
13 | g.51949701G= | CA2091541358 | ATP7B | c.*659C= (n.*659C=) c.*1570C= (n.*1570C=) c.2244+306C= (n.2244+306C=) c.2826C= (p.Ile942=) c.2493C= (p.Ile831=) c.2574C= (p.Ile858=) c.2592C= (p.Ile864=) n.6C= c.1800+306C= (n.1800+306C=) c.1536C= (p.Ile512=) c.787C= n.3609+15C= n.2171C= c.2682C= (p.Ile894=) n.212-3223C= c.2730C= (p.Ile910=) c.2790C= (p.Ile930=) c.2340C= (p.Ile780=) c.642C= (p.Ile214=) c.2730+306C= (n.2730+306C=) c.2412C= (p.Ile804=) c.1494C= (p.Ile498=) n.3045C= | |
13 | g.51949701G>T | CA6988902 | ATP7B | c.*659C>A (n.*659C>A) c.*1570C>A (n.*1570C>A) c.2244+306C>A (n.2244+306C>A) c.2826C>A (p.Ile942=) c.2493C>A (p.Ile831=) c.2574C>A (p.Ile858=) c.2592C>A (p.Ile864=) n.6C>A c.1800+306C>A (n.1800+306C>A) c.1536C>A (p.Ile512=) c.787C>A n.3609+15C>A n.2171C>A c.2682C>A (p.Ile894=) n.212-3223C>A c.2730C>A (p.Ile910=) c.2790C>A (p.Ile930=) c.2340C>A (p.Ile780=) c.642C>A (p.Ile214=) c.2730+306C>A (n.2730+306C>A) c.2412C>A (p.Ile804=) c.1494C>A (p.Ile498=) n.3045C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51949702A>C | CA388033435 | ATP7B | c.*658T>G (n.*658T>G) c.*1569T>G (n.*1569T>G) c.2244+305T>G (n.2244+305T>G) c.2825T>G (p.Ile942Ser) c.2492T>G (p.Ile831Ser) c.2573T>G (p.Ile858Ser) c.2591T>G (p.Ile864Ser) n.5T>G c.1800+305T>G (n.1800+305T>G) c.1535T>G (p.Ile512Ser) c.786T>G n.3609+14T>G n.2170T>G c.2681T>G (p.Ile894Ser) n.212-3224T>G c.2729T>G (p.Ile910Ser) c.2789T>G (p.Ile930Ser) c.2339T>G (p.Ile780Ser) c.641T>G (p.Ile214Ser) c.2730+305T>G (n.2730+305T>G) c.2411T>G (p.Ile804Ser) c.1493T>G (p.Ile498Ser) n.3044T>G | |
13 | g.51949702A>G | CA388033431 | ATP7B | c.*658T>C (n.*658T>C) c.*1569T>C (n.*1569T>C) c.2244+305T>C (n.2244+305T>C) c.2825T>C (p.Ile942Thr) c.2492T>C (p.Ile831Thr) c.2573T>C (p.Ile858Thr) c.2591T>C (p.Ile864Thr) n.5T>C c.1800+305T>C (n.1800+305T>C) c.1535T>C (p.Ile512Thr) c.786T>C n.3609+14T>C n.2170T>C c.2681T>C (p.Ile894Thr) n.212-3224T>C c.2729T>C (p.Ile910Thr) c.2789T>C (p.Ile930Thr) c.2339T>C (p.Ile780Thr) c.641T>C (p.Ile214Thr) c.2730+305T>C (n.2730+305T>C) c.2411T>C (p.Ile804Thr) c.1493T>C (p.Ile498Thr) n.3044T>C | |
13 | g.51949702A>T | CA388033428 | ATP7B | c.*658T>A (n.*658T>A) c.*1569T>A (n.*1569T>A) c.2244+305T>A (n.2244+305T>A) c.2825T>A (p.Ile942Asn) c.2492T>A (p.Ile831Asn) c.2573T>A (p.Ile858Asn) c.2591T>A (p.Ile864Asn) n.5T>A c.1800+305T>A (n.1800+305T>A) c.1535T>A (p.Ile512Asn) c.786T>A n.3609+14T>A n.2170T>A c.2681T>A (p.Ile894Asn) n.212-3224T>A c.2729T>A (p.Ile910Asn) c.2789T>A (p.Ile930Asn) c.2339T>A (p.Ile780Asn) c.641T>A (p.Ile214Asn) c.2730+305T>A (n.2730+305T>A) c.2411T>A (p.Ile804Asn) c.1493T>A (p.Ile498Asn) n.3044T>A | |
13 | g.51949703T>A | CA388033449 | ATP7B | c.*657A>T (n.*657A>T) c.*1568A>T (n.*1568A>T) c.2244+304A>T (n.2244+304A>T) c.2824A>T (p.Ile942Phe) c.2491A>T (p.Ile831Phe) c.2572A>T (p.Ile858Phe) c.2590A>T (p.Ile864Phe) n.4A>T c.1800+304A>T (n.1800+304A>T) c.1534A>T (p.Ile512Phe) c.785A>T n.3609+13A>T n.2169A>T c.2680A>T (p.Ile894Phe) n.212-3225A>T c.2728A>T (p.Ile910Phe) c.2788A>T (p.Ile930Phe) c.2338A>T (p.Ile780Phe) c.640A>T (p.Ile214Phe) c.2730+304A>T (n.2730+304A>T) c.2410A>T (p.Ile804Phe) c.1492A>T (p.Ile498Phe) n.3043A>T | |
13 | g.51949703T>C | CA388033452 | ATP7B | c.*657A>G (n.*657A>G) c.*1568A>G (n.*1568A>G) c.2244+304A>G (n.2244+304A>G) c.2824A>G (p.Ile942Val) c.2491A>G (p.Ile831Val) c.2572A>G (p.Ile858Val) c.2590A>G (p.Ile864Val) n.4A>G c.1800+304A>G (n.1800+304A>G) c.1534A>G (p.Ile512Val) c.785A>G n.3609+13A>G n.2169A>G c.2680A>G (p.Ile894Val) n.212-3225A>G c.2728A>G (p.Ile910Val) c.2788A>G (p.Ile930Val) c.2338A>G (p.Ile780Val) c.640A>G (p.Ile214Val) c.2730+304A>G (n.2730+304A>G) c.2410A>G (p.Ile804Val) c.1492A>G (p.Ile498Val) n.3043A>G | |
13 | g.51949703T>G | CA388033460 | ATP7B | c.*657A>C (n.*657A>C) c.*1568A>C (n.*1568A>C) c.2244+304A>C (n.2244+304A>C) c.2824A>C (p.Ile942Leu) c.2491A>C (p.Ile831Leu) c.2572A>C (p.Ile858Leu) c.2590A>C (p.Ile864Leu) n.4A>C c.1800+304A>C (n.1800+304A>C) c.1534A>C (p.Ile512Leu) c.785A>C n.3609+13A>C n.2169A>C c.2680A>C (p.Ile894Leu) n.212-3225A>C c.2728A>C (p.Ile910Leu) c.2788A>C (p.Ile930Leu) c.2338A>C (p.Ile780Leu) c.640A>C (p.Ile214Leu) c.2730+304A>C (n.2730+304A>C) c.2410A>C (p.Ile804Leu) c.1492A>C (p.Ile498Leu) n.3043A>C | |
13 | g.51949704T>A | CA484024483 | ATP7B | c.*656A>T (n.*656A>T) c.*1567A>T (n.*1567A>T) c.2244+303A>T (n.2244+303A>T) c.2823A>T (p.Val941=) c.2490A>T (p.Val830=) c.2571A>T (p.Val857=) c.2589A>T (p.Val863=) n.3A>T c.1800+303A>T (n.1800+303A>T) c.1533A>T (p.Val511=) c.784A>T n.3609+12A>T n.2168A>T c.2679A>T (p.Val893=) n.212-3226A>T c.2727A>T (p.Val909=) c.2787A>T (p.Val929=) c.2337A>T (p.Val779=) c.639A>T (p.Val213=) c.2730+303A>T (n.2730+303A>T) c.2409A>T (p.Val803=) c.1491A>T (p.Val497=) n.3042A>T | |
13 | g.51949704T>C | CA484024484 | ATP7B | c.*656A>G (n.*656A>G) c.*1567A>G (n.*1567A>G) c.2244+303A>G (n.2244+303A>G) c.2823A>G (p.Val941=) c.2490A>G (p.Val830=) c.2571A>G (p.Val857=) c.2589A>G (p.Val863=) n.3A>G c.1800+303A>G (n.1800+303A>G) c.1533A>G (p.Val511=) c.784A>G n.3609+12A>G n.2168A>G c.2679A>G (p.Val893=) n.212-3226A>G c.2727A>G (p.Val909=) c.2787A>G (p.Val929=) c.2337A>G (p.Val779=) c.639A>G (p.Val213=) c.2730+303A>G (n.2730+303A>G) c.2409A>G (p.Val803=) c.1491A>G (p.Val497=) n.3042A>G | |
13 | g.51949704T>G | CA484024485 | ATP7B | c.*656A>C (n.*656A>C) c.*1567A>C (n.*1567A>C) c.2244+303A>C (n.2244+303A>C) c.2823A>C (p.Val941=) c.2490A>C (p.Val830=) c.2571A>C (p.Val857=) c.2589A>C (p.Val863=) n.3A>C c.1800+303A>C (n.1800+303A>C) c.1533A>C (p.Val511=) c.784A>C n.3609+12A>C n.2168A>C c.2679A>C (p.Val893=) n.212-3226A>C c.2727A>C (p.Val909=) c.2787A>C (p.Val929=) c.2337A>C (p.Val779=) c.639A>C (p.Val213=) c.2730+303A>C (n.2730+303A>C) c.2409A>C (p.Val803=) c.1491A>C (p.Val497=) n.3042A>C | ClinVar dbSNP |
13 | g.51949705A>C | CA388033463 | ATP7B | c.*655T>G (n.*655T>G) c.*1566T>G (n.*1566T>G) c.2244+302T>G (n.2244+302T>G) c.2822T>G (p.Val941Gly) c.2489T>G (p.Val830Gly) c.2570T>G (p.Val857Gly) c.2588T>G (p.Val863Gly) n.2T>G c.1800+302T>G (n.1800+302T>G) c.1532T>G (p.Val511Gly) c.783T>G n.3609+11T>G n.2167T>G c.2678T>G (p.Val893Gly) n.212-3227T>G c.2726T>G (p.Val909Gly) c.2786T>G (p.Val929Gly) c.2336T>G (p.Val779Gly) c.638T>G (p.Val213Gly) c.2730+302T>G (n.2730+302T>G) c.2408T>G (p.Val803Gly) c.1490T>G (p.Val497Gly) n.3041T>G | |
13 | g.51949705A>G | CA388033472 | ATP7B | c.*655T>C (n.*655T>C) c.*1566T>C (n.*1566T>C) c.2244+302T>C (n.2244+302T>C) c.2822T>C (p.Val941Ala) c.2489T>C (p.Val830Ala) c.2570T>C (p.Val857Ala) c.2588T>C (p.Val863Ala) n.2T>C c.1800+302T>C (n.1800+302T>C) c.1532T>C (p.Val511Ala) c.783T>C n.3609+11T>C n.2167T>C c.2678T>C (p.Val893Ala) n.212-3227T>C c.2726T>C (p.Val909Ala) c.2786T>C (p.Val929Ala) c.2336T>C (p.Val779Ala) c.638T>C (p.Val213Ala) c.2730+302T>C (n.2730+302T>C) c.2408T>C (p.Val803Ala) c.1490T>C (p.Val497Ala) n.3041T>C | |
13 | g.51949705A>T | CA388033474 | ATP7B | c.*655T>A (n.*655T>A) c.*1566T>A (n.*1566T>A) c.2244+302T>A (n.2244+302T>A) c.2822T>A (p.Val941Glu) c.2489T>A (p.Val830Glu) c.2570T>A (p.Val857Glu) c.2588T>A (p.Val863Glu) n.2T>A c.1800+302T>A (n.1800+302T>A) c.1532T>A (p.Val511Glu) c.783T>A n.3609+11T>A n.2167T>A c.2678T>A (p.Val893Glu) n.212-3227T>A c.2726T>A (p.Val909Glu) c.2786T>A (p.Val929Glu) c.2336T>A (p.Val779Glu) c.638T>A (p.Val213Glu) c.2730+302T>A (n.2730+302T>A) c.2408T>A (p.Val803Glu) c.1490T>A (p.Val497Glu) n.3041T>A | |
13 | g.51949706C>A | CA388033478 | ATP7B | c.*654G>T (n.*654G>T) c.*1565G>T (n.*1565G>T) c.2244+301G>T (n.2244+301G>T) c.2821G>T (p.Val941Leu) c.2488G>T (p.Val830Leu) c.2569G>T (p.Val857Leu) c.2587G>T (p.Val863Leu) n.1G>T c.1800+301G>T (n.1800+301G>T) c.1531G>T (p.Val511Leu) c.782G>T n.3609+10G>T n.2166G>T c.2677G>T (p.Val893Leu) n.212-3228G>T c.2725G>T (p.Val909Leu) c.2785G>T (p.Val929Leu) c.2335G>T (p.Val779Leu) c.637G>T (p.Val213Leu) c.2730+301G>T (n.2730+301G>T) c.2407G>T (p.Val803Leu) c.1489G>T (p.Val497Leu) n.3040G>T | gnomAD v4 |
13 | g.51949706C>G | CA388033480 | ATP7B | c.*654G>C (n.*654G>C) c.*1565G>C (n.*1565G>C) c.2244+301G>C (n.2244+301G>C) c.2821G>C (p.Val941Leu) c.2488G>C (p.Val830Leu) c.2569G>C (p.Val857Leu) c.2587G>C (p.Val863Leu) n.1G>C c.1800+301G>C (n.1800+301G>C) c.1531G>C (p.Val511Leu) c.782G>C n.3609+10G>C n.2166G>C c.2677G>C (p.Val893Leu) n.212-3228G>C c.2725G>C (p.Val909Leu) c.2785G>C (p.Val929Leu) c.2335G>C (p.Val779Leu) c.637G>C (p.Val213Leu) c.2730+301G>C (n.2730+301G>C) c.2407G>C (p.Val803Leu) c.1489G>C (p.Val497Leu) n.3040G>C | |
13 | g.51949706C>T | CA388033482 | ATP7B | c.*654G>A (n.*654G>A) c.*1565G>A (n.*1565G>A) c.2244+301G>A (n.2244+301G>A) c.2821G>A (p.Val941Ile) c.2488G>A (p.Val830Ile) c.2569G>A (p.Val857Ile) c.2587G>A (p.Val863Ile) n.1G>A c.1800+301G>A (n.1800+301G>A) c.1531G>A (p.Val511Ile) c.782G>A n.3609+10G>A n.2166G>A c.2677G>A (p.Val893Ile) n.212-3228G>A c.2725G>A (p.Val909Ile) c.2785G>A (p.Val929Ile) c.2335G>A (p.Val779Ile) c.637G>A (p.Val213Ile) c.2730+301G>A (n.2730+301G>A) c.2407G>A (p.Val803Ile) c.1489G>A (p.Val497Ile) n.3040G>A | |
13 | g.51949709_51949721del | CA2623118045 | ATP7B | c.*642_*654del (n.*642_*654del) c.*1553_*1565del (n.*1553_*1565del) c.2244+289_2244+301del (n.2244+289_2244+301del) c.2809_2821del (p.Val937Ter) c.2476_2488del (p.Val826Ter) c.2557_2569del (p.Val853Ter) c.2575_2587del (p.Val859Ter) c.1800+289_1800+301del (n.1800+289_1800+301del) c.1519_1531del (p.Val507Ter) c.770_782del n.3607_3609+10del n.2154_2166del c.2665_2677del (p.Val889Ter) n.212-3240_212-3228del c.2713_2725del (p.Val905Ter) c.2773_2785del (p.Val925Ter) c.2323_2335del (p.Val775Ter) c.625_637del (p.Val209Ter) c.2730+289_2730+301del (n.2730+289_2730+301del) c.2395_2407del (p.Val799Ter) c.1477_1489del (p.Val493Ter) n.3028_3040del | gnomAD v4 |
13 | g.51949707A>C | CA388033483 | ATP7B | c.*653T>G (n.*653T>G) c.*1564T>G (n.*1564T>G) c.2244+300T>G (n.2244+300T>G) c.2820T>G (p.Ile940Met) c.2487T>G (p.Ile829Met) c.2568T>G (p.Ile856Met) c.2586T>G (p.Ile862Met) c.1800+300T>G (n.1800+300T>G) c.1530T>G (p.Ile510Met) c.781T>G n.3609+9T>G n.2165T>G c.2676T>G (p.Ile892Met) n.212-3229T>G c.2724T>G (p.Ile908Met) c.2784T>G (p.Ile928Met) c.2334T>G (p.Ile778Met) c.636T>G (p.Ile212Met) c.2730+300T>G (n.2730+300T>G) c.2406T>G (p.Ile802Met) c.1488T>G (p.Ile496Met) n.3039T>G | |
13 | g.51949707A>G | CA484024487 | ATP7B | c.*653T>C (n.*653T>C) c.*1564T>C (n.*1564T>C) c.2244+300T>C (n.2244+300T>C) c.2820T>C (p.Ile940=) c.2487T>C (p.Ile829=) c.2568T>C (p.Ile856=) c.2586T>C (p.Ile862=) c.1800+300T>C (n.1800+300T>C) c.1530T>C (p.Ile510=) c.781T>C n.3609+9T>C n.2165T>C c.2676T>C (p.Ile892=) n.212-3229T>C c.2724T>C (p.Ile908=) c.2784T>C (p.Ile928=) c.2334T>C (p.Ile778=) c.636T>C (p.Ile212=) c.2730+300T>C (n.2730+300T>C) c.2406T>C (p.Ile802=) c.1488T>C (p.Ile496=) n.3039T>C | |
13 | g.51949707A>T | CA484024488 | ATP7B | c.*653T>A (n.*653T>A) c.*1564T>A (n.*1564T>A) c.2244+300T>A (n.2244+300T>A) c.2820T>A (p.Ile940=) c.2487T>A (p.Ile829=) c.2568T>A (p.Ile856=) c.2586T>A (p.Ile862=) c.1800+300T>A (n.1800+300T>A) c.1530T>A (p.Ile510=) c.781T>A n.3609+9T>A n.2165T>A c.2676T>A (p.Ile892=) n.212-3229T>A c.2724T>A (p.Ile908=) c.2784T>A (p.Ile928=) c.2334T>A (p.Ile778=) c.636T>A (p.Ile212=) c.2730+300T>A (n.2730+300T>A) c.2406T>A (p.Ile802=) c.1488T>A (p.Ile496=) n.3039T>A | |
13 | g.51949708A= | CA2091541360 | ATP7B | c.*652T= (n.*652T=) c.*1563T= (n.*1563T=) c.2244+299T= (n.2244+299T=) c.2819T= (p.Ile940=) c.2486T= (p.Ile829=) c.2567T= (p.Ile856=) c.2585T= (p.Ile862=) c.1800+299T= (n.1800+299T=) c.1529T= (p.Ile510=) c.780T= n.3609+8T= n.2164T= c.2675T= (p.Ile892=) n.212-3230T= c.2723T= (p.Ile908=) c.2783T= (p.Ile928=) c.2333T= (p.Ile778=) c.635T= (p.Ile212=) c.2730+299T= (n.2730+299T=) c.2405T= (p.Ile802=) c.1487T= (p.Ile496=) n.3038T= | |
13 | g.51949708A>C | CA388033486 | ATP7B | c.*652T>G (n.*652T>G) c.*1563T>G (n.*1563T>G) c.2244+299T>G (n.2244+299T>G) c.2819T>G (p.Ile940Ser) c.2486T>G (p.Ile829Ser) c.2567T>G (p.Ile856Ser) c.2585T>G (p.Ile862Ser) c.1800+299T>G (n.1800+299T>G) c.1529T>G (p.Ile510Ser) c.780T>G n.3609+8T>G n.2164T>G c.2675T>G (p.Ile892Ser) n.212-3230T>G c.2723T>G (p.Ile908Ser) c.2783T>G (p.Ile928Ser) c.2333T>G (p.Ile778Ser) c.635T>G (p.Ile212Ser) c.2730+299T>G (n.2730+299T>G) c.2405T>G (p.Ile802Ser) c.1487T>G (p.Ile496Ser) n.3038T>G | |
13 | g.51949708A>G | CA6988903 | ATP7B | c.*652T>C (n.*652T>C) c.*1563T>C (n.*1563T>C) c.2244+299T>C (n.2244+299T>C) c.2819T>C (p.Ile940Thr) c.2486T>C (p.Ile829Thr) c.2567T>C (p.Ile856Thr) c.2585T>C (p.Ile862Thr) c.1800+299T>C (n.1800+299T>C) c.1529T>C (p.Ile510Thr) c.780T>C n.3609+8T>C n.2164T>C c.2675T>C (p.Ile892Thr) n.212-3230T>C c.2723T>C (p.Ile908Thr) c.2783T>C (p.Ile928Thr) c.2333T>C (p.Ile778Thr) c.635T>C (p.Ile212Thr) c.2730+299T>C (n.2730+299T>C) c.2405T>C (p.Ile802Thr) c.1487T>C (p.Ile496Thr) n.3038T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51949708A>T | CA388033497 | ATP7B | c.*652T>A (n.*652T>A) c.*1563T>A (n.*1563T>A) c.2244+299T>A (n.2244+299T>A) c.2819T>A (p.Ile940Asn) c.2486T>A (p.Ile829Asn) c.2567T>A (p.Ile856Asn) c.2585T>A (p.Ile862Asn) c.1800+299T>A (n.1800+299T>A) c.1529T>A (p.Ile510Asn) c.780T>A n.3609+8T>A n.2164T>A c.2675T>A (p.Ile892Asn) n.212-3230T>A c.2723T>A (p.Ile908Asn) c.2783T>A (p.Ile928Asn) c.2333T>A (p.Ile778Asn) c.635T>A (p.Ile212Asn) c.2730+299T>A (n.2730+299T>A) c.2405T>A (p.Ile802Asn) c.1487T>A (p.Ile496Asn) n.3038T>A | |
13 | g.51949709T>A | CA388033502 | ATP7B | c.*651A>T (n.*651A>T) c.*1562A>T (n.*1562A>T) c.2244+298A>T (n.2244+298A>T) c.2818A>T (p.Ile940Phe) c.2485A>T (p.Ile829Phe) c.2566A>T (p.Ile856Phe) c.2584A>T (p.Ile862Phe) c.1800+298A>T (n.1800+298A>T) c.1528A>T (p.Ile510Phe) c.779A>T n.3609+7A>T n.2163A>T c.2674A>T (p.Ile892Phe) n.212-3231A>T c.2722A>T (p.Ile908Phe) c.2782A>T (p.Ile928Phe) c.2332A>T (p.Ile778Phe) c.634A>T (p.Ile212Phe) c.2730+298A>T (n.2730+298A>T) c.2404A>T (p.Ile802Phe) c.1486A>T (p.Ile496Phe) n.3037A>T | |
13 | g.51949709T>C | CA388033504 | ATP7B | c.*651A>G (n.*651A>G) c.*1562A>G (n.*1562A>G) c.2244+298A>G (n.2244+298A>G) c.2818A>G (p.Ile940Val) c.2485A>G (p.Ile829Val) c.2566A>G (p.Ile856Val) c.2584A>G (p.Ile862Val) c.1800+298A>G (n.1800+298A>G) c.1528A>G (p.Ile510Val) c.779A>G n.3609+7A>G n.2163A>G c.2674A>G (p.Ile892Val) n.212-3231A>G c.2722A>G (p.Ile908Val) c.2782A>G (p.Ile928Val) c.2332A>G (p.Ile778Val) c.634A>G (p.Ile212Val) c.2730+298A>G (n.2730+298A>G) c.2404A>G (p.Ile802Val) c.1486A>G (p.Ile496Val) n.3037A>G | |
13 | g.51949709T>G | CA388033500 | ATP7B | c.*651A>C (n.*651A>C) c.*1562A>C (n.*1562A>C) c.2244+298A>C (n.2244+298A>C) c.2818A>C (p.Ile940Leu) c.2485A>C (p.Ile829Leu) c.2566A>C (p.Ile856Leu) c.2584A>C (p.Ile862Leu) c.1800+298A>C (n.1800+298A>C) c.1528A>C (p.Ile510Leu) c.779A>C n.3609+7A>C n.2163A>C c.2674A>C (p.Ile892Leu) n.212-3231A>C c.2722A>C (p.Ile908Leu) c.2782A>C (p.Ile928Leu) c.2332A>C (p.Ile778Leu) c.634A>C (p.Ile212Leu) c.2730+298A>C (n.2730+298A>C) c.2404A>C (p.Ile802Leu) c.1486A>C (p.Ile496Leu) n.3037A>C | |
13 | g.51949710C>A | CA16041667 | ATP7B | c.*650G>T (n.*650G>T) c.*1561G>T (n.*1561G>T) c.2244+297G>T (n.2244+297G>T) c.2817G>T (p.Trp939Cys) c.2484G>T (p.Trp828Cys) c.2565G>T (p.Trp855Cys) c.2583G>T (p.Trp861Cys) c.1800+297G>T (n.1800+297G>T) c.1527G>T (p.Trp509Cys) c.778G>T n.3609+6G>T n.2162G>T c.2673G>T (p.Trp891Cys) n.212-3232G>T c.2721G>T (p.Trp907Cys) c.2781G>T (p.Trp927Cys) c.2331G>T (p.Trp777Cys) c.633G>T (p.Trp211Cys) c.2730+297G>T (n.2730+297G>T) c.2403G>T (p.Trp801Cys) c.1485G>T (p.Trp495Cys) n.3036G>T | ClinVar dbSNP gnomAD v4 |
13 | g.51949710C= | CA2091541365 | ATP7B | c.*650G= (n.*650G=) c.*1561G= (n.*1561G=) c.2244+297G= (n.2244+297G=) c.2817G= (p.Trp939=) c.2484G= (p.Trp828=) c.2565G= (p.Trp855=) c.2583G= (p.Trp861=) c.1800+297G= (n.1800+297G=) c.1527G= (p.Trp509=) c.778G= n.3609+6G= n.2162G= c.2673G= (p.Trp891=) n.212-3232G= c.2721G= (p.Trp907=) c.2781G= (p.Trp927=) c.2331G= (p.Trp777=) c.633G= (p.Trp211=) c.2730+297G= (n.2730+297G=) c.2403G= (p.Trp801=) c.1485G= (p.Trp495=) n.3036G= | |
13 | g.51949710C>G | CA388033509 | ATP7B | c.*650G>C (n.*650G>C) c.*1561G>C (n.*1561G>C) c.2244+297G>C (n.2244+297G>C) c.2817G>C (p.Trp939Cys) c.2484G>C (p.Trp828Cys) c.2565G>C (p.Trp855Cys) c.2583G>C (p.Trp861Cys) c.1800+297G>C (n.1800+297G>C) c.1527G>C (p.Trp509Cys) c.778G>C n.3609+6G>C n.2162G>C c.2673G>C (p.Trp891Cys) n.212-3232G>C c.2721G>C (p.Trp907Cys) c.2781G>C (p.Trp927Cys) c.2331G>C (p.Trp777Cys) c.633G>C (p.Trp211Cys) c.2730+297G>C (n.2730+297G>C) c.2403G>C (p.Trp801Cys) c.1485G>C (p.Trp495Cys) n.3036G>C | ClinVar dbSNP |
13 | g.51949710C>T | CA388033512 | ATP7B | c.*650G>A (n.*650G>A) c.*1561G>A (n.*1561G>A) c.2244+297G>A (n.2244+297G>A) c.2817G>A (p.Trp939Ter) c.2484G>A (p.Trp828Ter) c.2565G>A (p.Trp855Ter) c.2583G>A (p.Trp861Ter) c.1800+297G>A (n.1800+297G>A) c.1527G>A (p.Trp509Ter) c.778G>A n.3609+6G>A n.2162G>A c.2673G>A (p.Trp891Ter) n.212-3232G>A c.2721G>A (p.Trp907Ter) c.2781G>A (p.Trp927Ter) c.2331G>A (p.Trp777Ter) c.633G>A (p.Trp211Ter) c.2730+297G>A (n.2730+297G>A) c.2403G>A (p.Trp801Ter) c.1485G>A (p.Trp495Ter) n.3036G>A | |
13 | g.51949711C>A | CA388033515 | ATP7B | c.*649G>T (n.*649G>T) c.*1560G>T (n.*1560G>T) c.2244+296G>T (n.2244+296G>T) c.2816G>T (p.Trp939Leu) c.2483G>T (p.Trp828Leu) c.2564G>T (p.Trp855Leu) c.2582G>T (p.Trp861Leu) c.1800+296G>T (n.1800+296G>T) c.1526G>T (p.Trp509Leu) c.777G>T n.3609+5G>T n.2161G>T c.2672G>T (p.Trp891Leu) n.212-3233G>T c.2720G>T (p.Trp907Leu) c.2780G>T (p.Trp927Leu) c.2330G>T (p.Trp777Leu) c.632G>T (p.Trp211Leu) c.2730+296G>T (n.2730+296G>T) c.2402G>T (p.Trp801Leu) c.1484G>T (p.Trp495Leu) n.3035G>T | dbSNP |
13 | g.51949711C= | CA2091541371 | ATP7B | c.*649G= (n.*649G=) c.*1560G= (n.*1560G=) c.2244+296G= (n.2244+296G=) c.2816G= (p.Trp939=) c.2483G= (p.Trp828=) c.2564G= (p.Trp855=) c.2582G= (p.Trp861=) c.1800+296G= (n.1800+296G=) c.1526G= (p.Trp509=) c.777G= n.3609+5G= n.2161G= c.2672G= (p.Trp891=) n.212-3233G= c.2720G= (p.Trp907=) c.2780G= (p.Trp927=) c.2330G= (p.Trp777=) c.632G= (p.Trp211=) c.2730+296G= (n.2730+296G=) c.2402G= (p.Trp801=) c.1484G= (p.Trp495=) n.3035G= | |
13 | g.51949711C>G | CA388033517 | ATP7B | c.*649G>C (n.*649G>C) c.*1560G>C (n.*1560G>C) c.2244+296G>C (n.2244+296G>C) c.2816G>C (p.Trp939Ser) c.2483G>C (p.Trp828Ser) c.2564G>C (p.Trp855Ser) c.2582G>C (p.Trp861Ser) c.1800+296G>C (n.1800+296G>C) c.1526G>C (p.Trp509Ser) c.777G>C n.3609+5G>C n.2161G>C c.2672G>C (p.Trp891Ser) n.212-3233G>C c.2720G>C (p.Trp907Ser) c.2780G>C (p.Trp927Ser) c.2330G>C (p.Trp777Ser) c.632G>C (p.Trp211Ser) c.2730+296G>C (n.2730+296G>C) c.2402G>C (p.Trp801Ser) c.1484G>C (p.Trp495Ser) n.3035G>C | |
13 | g.51949711C>T | CA388033520 | ATP7B | c.*649G>A (n.*649G>A) c.*1560G>A (n.*1560G>A) c.2244+296G>A (n.2244+296G>A) c.2816G>A (p.Trp939Ter) c.2483G>A (p.Trp828Ter) c.2564G>A (p.Trp855Ter) c.2582G>A (p.Trp861Ter) c.1800+296G>A (n.1800+296G>A) c.1526G>A (p.Trp509Ter) c.777G>A n.3609+5G>A n.2161G>A c.2672G>A (p.Trp891Ter) n.212-3233G>A c.2720G>A (p.Trp907Ter) c.2780G>A (p.Trp927Ter) c.2330G>A (p.Trp777Ter) c.632G>A (p.Trp211Ter) c.2730+296G>A (n.2730+296G>A) c.2402G>A (p.Trp801Ter) c.1484G>A (p.Trp495Ter) n.3035G>A | |
13 | g.51949711_51949712insT | CA2695218779 | ATP7B | c.*648_*649insA (n.*648_*649insA) c.*1559_*1560insA (n.*1559_*1560insA) c.2244+295_2244+296insA (n.2244+295_2244+296insA) c.2815_2816insA (p.Trp939Ter) c.2482_2483insA (p.Trp828Ter) c.2563_2564insA (p.Trp855Ter) c.2581_2582insA (p.Trp861Ter) c.1800+295_1800+296insA (n.1800+295_1800+296insA) c.1525_1526insA (p.Trp509Ter) c.776_777insA n.3609+4_3609+5insA n.2160_2161insA c.2671_2672insA (p.Trp891Ter) n.212-3234_212-3233insA c.2719_2720insA (p.Trp907Ter) c.2779_2780insA (p.Trp927Ter) c.2329_2330insA (p.Trp777Ter) c.631_632insA (p.Trp211Ter) c.2730+295_2730+296insA (n.2730+295_2730+296insA) c.2401_2402insA (p.Trp801Ter) c.1483_1484insA (p.Trp495Ter) n.3034_3035insA | |
13 | g.51949712A>C | CA388033523 | ATP7B | c.*648T>G (n.*648T>G) c.*1559T>G (n.*1559T>G) c.2244+295T>G (n.2244+295T>G) c.2815T>G (p.Trp939Gly) c.2482T>G (p.Trp828Gly) c.2563T>G (p.Trp855Gly) c.2581T>G (p.Trp861Gly) c.1800+295T>G (n.1800+295T>G) c.1525T>G (p.Trp509Gly) c.776T>G n.3609+4T>G n.2160T>G c.2671T>G (p.Trp891Gly) n.212-3234T>G c.2719T>G (p.Trp907Gly) c.2779T>G (p.Trp927Gly) c.2329T>G (p.Trp777Gly) c.631T>G (p.Trp211Gly) c.2730+295T>G (n.2730+295T>G) c.2401T>G (p.Trp801Gly) c.1483T>G (p.Trp495Gly) n.3034T>G | |
13 | g.51949712A>G | CA388033525 | ATP7B | c.*648T>C (n.*648T>C) c.*1559T>C (n.*1559T>C) c.2244+295T>C (n.2244+295T>C) c.2815T>C (p.Trp939Arg) c.2482T>C (p.Trp828Arg) c.2563T>C (p.Trp855Arg) c.2581T>C (p.Trp861Arg) c.1800+295T>C (n.1800+295T>C) c.1525T>C (p.Trp509Arg) c.776T>C n.3609+4T>C n.2160T>C c.2671T>C (p.Trp891Arg) n.212-3234T>C c.2719T>C (p.Trp907Arg) c.2779T>C (p.Trp927Arg) c.2329T>C (p.Trp777Arg) c.631T>C (p.Trp211Arg) c.2730+295T>C (n.2730+295T>C) c.2401T>C (p.Trp801Arg) c.1483T>C (p.Trp495Arg) n.3034T>C | gnomAD v4 |
13 | g.51949712A>T | CA388033527 | ATP7B | c.*648T>A (n.*648T>A) c.*1559T>A (n.*1559T>A) c.2244+295T>A (n.2244+295T>A) c.2815T>A (p.Trp939Arg) c.2482T>A (p.Trp828Arg) c.2563T>A (p.Trp855Arg) c.2581T>A (p.Trp861Arg) c.1800+295T>A (n.1800+295T>A) c.1525T>A (p.Trp509Arg) c.776T>A n.3609+4T>A n.2160T>A c.2671T>A (p.Trp891Arg) n.212-3234T>A c.2719T>A (p.Trp907Arg) c.2779T>A (p.Trp927Arg) c.2329T>A (p.Trp777Arg) c.631T>A (p.Trp211Arg) c.2730+295T>A (n.2730+295T>A) c.2401T>A (p.Trp801Arg) c.1483T>A (p.Trp495Arg) n.3034T>A | |
13 | g.51949713T>A | CA484024490 | ATP7B | c.*647A>T (n.*647A>T) c.*1558A>T (n.*1558A>T) c.2244+294A>T (n.2244+294A>T) c.2814A>T (p.Val938=) c.2481A>T (p.Val827=) c.2562A>T (p.Val854=) c.2580A>T (p.Val860=) c.1800+294A>T (n.1800+294A>T) c.1524A>T (p.Val508=) c.775A>T n.3609+3A>T n.2159A>T c.2670A>T (p.Val890=) n.212-3235A>T c.2718A>T (p.Val906=) c.2778A>T (p.Val926=) c.2328A>T (p.Val776=) c.630A>T (p.Val210=) c.2730+294A>T (n.2730+294A>T) c.2400A>T (p.Val800=) c.1482A>T (p.Val494=) n.3033A>T | |
13 | g.51949713T>C | CA484024491 | ATP7B | c.*647A>G (n.*647A>G) c.*1558A>G (n.*1558A>G) c.2244+294A>G (n.2244+294A>G) c.2814A>G (p.Val938=) c.2481A>G (p.Val827=) c.2562A>G (p.Val854=) c.2580A>G (p.Val860=) c.1800+294A>G (n.1800+294A>G) c.1524A>G (p.Val508=) c.775A>G n.3609+3A>G n.2159A>G c.2670A>G (p.Val890=) n.212-3235A>G c.2718A>G (p.Val906=) c.2778A>G (p.Val926=) c.2328A>G (p.Val776=) c.630A>G (p.Val210=) c.2730+294A>G (n.2730+294A>G) c.2400A>G (p.Val800=) c.1482A>G (p.Val494=) n.3033A>G | |
13 | g.51949713T>G | CA484024489 | ATP7B | c.*647A>C (n.*647A>C) c.*1558A>C (n.*1558A>C) c.2244+294A>C (n.2244+294A>C) c.2814A>C (p.Val938=) c.2481A>C (p.Val827=) c.2562A>C (p.Val854=) c.2580A>C (p.Val860=) c.1800+294A>C (n.1800+294A>C) c.1524A>C (p.Val508=) c.775A>C n.3609+3A>C n.2159A>C c.2670A>C (p.Val890=) n.212-3235A>C c.2718A>C (p.Val906=) c.2778A>C (p.Val926=) c.2328A>C (p.Val776=) c.630A>C (p.Val210=) c.2730+294A>C (n.2730+294A>C) c.2400A>C (p.Val800=) c.1482A>C (p.Val494=) n.3033A>C | |
13 | g.51949714A>C | CA388033530 | ATP7B | c.*646T>G (n.*646T>G) c.*1557T>G (n.*1557T>G) c.2244+293T>G (n.2244+293T>G) c.2813T>G (p.Val938Gly) c.2480T>G (p.Val827Gly) c.2561T>G (p.Val854Gly) c.2579T>G (p.Val860Gly) c.1800+293T>G (n.1800+293T>G) c.1523T>G (p.Val508Gly) c.774T>G n.3609+2T>G n.2158T>G c.2669T>G (p.Val890Gly) n.212-3236T>G c.2717T>G (p.Val906Gly) c.2777T>G (p.Val926Gly) c.2327T>G (p.Val776Gly) c.629T>G (p.Val210Gly) c.2730+293T>G (n.2730+293T>G) c.2399T>G (p.Val800Gly) c.1481T>G (p.Val494Gly) n.3032T>G | |
13 | g.51949714A>G | CA388033533 | ATP7B | c.*646T>C (n.*646T>C) c.*1557T>C (n.*1557T>C) c.2244+293T>C (n.2244+293T>C) c.2813T>C (p.Val938Ala) c.2480T>C (p.Val827Ala) c.2561T>C (p.Val854Ala) c.2579T>C (p.Val860Ala) c.1800+293T>C (n.1800+293T>C) c.1523T>C (p.Val508Ala) c.774T>C n.3609+2T>C n.2158T>C c.2669T>C (p.Val890Ala) n.212-3236T>C c.2717T>C (p.Val906Ala) c.2777T>C (p.Val926Ala) c.2327T>C (p.Val776Ala) c.629T>C (p.Val210Ala) c.2730+293T>C (n.2730+293T>C) c.2399T>C (p.Val800Ala) c.1481T>C (p.Val494Ala) n.3032T>C | |
13 | g.51949714A>T | CA388033535 | ATP7B | c.*646T>A (n.*646T>A) c.*1557T>A (n.*1557T>A) c.2244+293T>A (n.2244+293T>A) c.2813T>A (p.Val938Glu) c.2480T>A (p.Val827Glu) c.2561T>A (p.Val854Glu) c.2579T>A (p.Val860Glu) c.1800+293T>A (n.1800+293T>A) c.1523T>A (p.Val508Glu) c.774T>A n.3609+2T>A n.2158T>A c.2669T>A (p.Val890Glu) n.212-3236T>A c.2717T>A (p.Val906Glu) c.2777T>A (p.Val926Glu) c.2327T>A (p.Val776Glu) c.629T>A (p.Val210Glu) c.2730+293T>A (n.2730+293T>A) c.2399T>A (p.Val800Glu) c.1481T>A (p.Val494Glu) n.3032T>A | |
13 | g.51949715C>A | CA388033537 | ATP7B | c.*645G>T (n.*645G>T) c.*1556G>T (n.*1556G>T) c.2244+292G>T (n.2244+292G>T) c.2812G>T (p.Val938Leu) c.2479G>T (p.Val827Leu) c.2560G>T (p.Val854Leu) c.2578G>T (p.Val860Leu) c.1800+292G>T (n.1800+292G>T) c.1522G>T (p.Val508Leu) c.773G>T n.3609+1G>T n.2157G>T c.2668G>T (p.Val890Leu) n.212-3237G>T c.2716G>T (p.Val906Leu) c.2776G>T (p.Val926Leu) c.2326G>T (p.Val776Leu) c.628G>T (p.Val210Leu) c.2730+292G>T (n.2730+292G>T) c.2398G>T (p.Val800Leu) c.1480G>T (p.Val494Leu) n.3031G>T | |
13 | g.51949715C= | CA2091541375 | ATP7B | c.*645G= (n.*645G=) c.*1556G= (n.*1556G=) c.2244+292G= (n.2244+292G=) c.2812G= (p.Val938=) c.2479G= (p.Val827=) c.2560G= (p.Val854=) c.2578G= (p.Val860=) c.1800+292G= (n.1800+292G=) c.1522G= (p.Val508=) c.773G= n.3609+1G= n.2157G= c.2668G= (p.Val890=) n.212-3237G= c.2716G= (p.Val906=) c.2776G= (p.Val926=) c.2326G= (p.Val776=) c.628G= (p.Val210=) c.2730+292G= (n.2730+292G=) c.2398G= (p.Val800=) c.1480G= (p.Val494=) n.3031G= | |
13 | g.51949715C>G | CA388033540 | ATP7B | c.*645G>C (n.*645G>C) c.*1556G>C (n.*1556G>C) c.2244+292G>C (n.2244+292G>C) c.2812G>C (p.Val938Leu) c.2479G>C (p.Val827Leu) c.2560G>C (p.Val854Leu) c.2578G>C (p.Val860Leu) c.1800+292G>C (n.1800+292G>C) c.1522G>C (p.Val508Leu) c.773G>C n.3609+1G>C n.2157G>C c.2668G>C (p.Val890Leu) n.212-3237G>C c.2716G>C (p.Val906Leu) c.2776G>C (p.Val926Leu) c.2326G>C (p.Val776Leu) c.628G>C (p.Val210Leu) c.2730+292G>C (n.2730+292G>C) c.2398G>C (p.Val800Leu) c.1480G>C (p.Val494Leu) n.3031G>C | |
13 | g.51949715C>T | CA388033542 | ATP7B | c.*645G>A (n.*645G>A) c.*1556G>A (n.*1556G>A) c.2244+292G>A (n.2244+292G>A) c.2812G>A (p.Val938Ile) c.2479G>A (p.Val827Ile) c.2560G>A (p.Val854Ile) c.2578G>A (p.Val860Ile) c.1800+292G>A (n.1800+292G>A) c.1522G>A (p.Val508Ile) c.773G>A n.3609+1G>A n.2157G>A c.2668G>A (p.Val890Ile) n.212-3237G>A c.2716G>A (p.Val906Ile) c.2776G>A (p.Val926Ile) c.2326G>A (p.Val776Ile) c.628G>A (p.Val210Ile) c.2730+292G>A (n.2730+292G>A) c.2398G>A (p.Val800Ile) c.1480G>A (p.Val494Ile) n.3031G>A | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51949716C>A | CA484024492 | ATP7B | c.*644G>T (n.*644G>T) c.*1555G>T (n.*1555G>T) c.2244+291G>T (n.2244+291G>T) c.2811G>T (p.Val937=) c.2478G>T (p.Val826=) c.2559G>T (p.Val853=) c.2577G>T (p.Val859=) c.1800+291G>T (n.1800+291G>T) c.1521G>T (p.Val507=) c.772G>T n.3609G>T n.2156G>T c.2667G>T (p.Val889=) n.212-3238G>T c.2715G>T (p.Val905=) c.2775G>T (p.Val925=) c.2325G>T (p.Val775=) c.627G>T (p.Val209=) c.2730+291G>T (n.2730+291G>T) c.2397G>T (p.Val799=) c.1479G>T (p.Val493=) n.3030G>T | gnomAD v4 |
13 | g.51949716C= | CA2091541377 | ATP7B | c.*644G= (n.*644G=) c.*1555G= (n.*1555G=) c.2244+291G= (n.2244+291G=) c.2811G= (p.Val937=) c.2478G= (p.Val826=) c.2559G= (p.Val853=) c.2577G= (p.Val859=) c.1800+291G= (n.1800+291G=) c.1521G= (p.Val507=) c.772G= n.3609G= n.2156G= c.2667G= (p.Val889=) n.212-3238G= c.2715G= (p.Val905=) c.2775G= (p.Val925=) c.2325G= (p.Val775=) c.627G= (p.Val209=) c.2730+291G= (n.2730+291G=) c.2397G= (p.Val799=) c.1479G= (p.Val493=) n.3030G= | |
13 | g.51949716C>G | CA484024493 | ATP7B | c.*644G>C (n.*644G>C) c.*1555G>C (n.*1555G>C) c.2244+291G>C (n.2244+291G>C) c.2811G>C (p.Val937=) c.2478G>C (p.Val826=) c.2559G>C (p.Val853=) c.2577G>C (p.Val859=) c.1800+291G>C (n.1800+291G>C) c.1521G>C (p.Val507=) c.772G>C n.3609G>C n.2156G>C c.2667G>C (p.Val889=) n.212-3238G>C c.2715G>C (p.Val905=) c.2775G>C (p.Val925=) c.2325G>C (p.Val775=) c.627G>C (p.Val209=) c.2730+291G>C (n.2730+291G>C) c.2397G>C (p.Val799=) c.1479G>C (p.Val493=) n.3030G>C | gnomAD v4 |
13 | g.51949716C>T | CA6988904 | ATP7B | c.*644G>A (n.*644G>A) c.*1555G>A (n.*1555G>A) c.2244+291G>A (n.2244+291G>A) c.2811G>A (p.Val937=) c.2478G>A (p.Val826=) c.2559G>A (p.Val853=) c.2577G>A (p.Val859=) c.1800+291G>A (n.1800+291G>A) c.1521G>A (p.Val507=) c.772G>A n.3609G>A n.2156G>A c.2667G>A (p.Val889=) n.212-3238G>A c.2715G>A (p.Val905=) c.2775G>A (p.Val925=) c.2325G>A (p.Val775=) c.627G>A (p.Val209=) c.2730+291G>A (n.2730+291G>A) c.2397G>A (p.Val799=) c.1479G>A (p.Val493=) n.3030G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51949716_51949717delinsCA | CA2091541378 | ATP7B | c.*643_*644delinsTG (n.*643_*644delinsTG) c.*1554_*1555delinsTG (n.*1554_*1555delinsTG) c.2244+290_2244+291delinsTG (n.2244+290_2244+291delinsTG) c.2810_2811delinsTG (p.Val937=) c.2477_2478delinsTG (p.Val826=) c.2558_2559delinsTG (p.Val853=) c.2576_2577delinsTG (p.Val859=) c.1800+290_1800+291delinsTG (n.1800+290_1800+291delinsTG) c.1520_1521delinsTG (p.Val507=) c.771_772delinsTG n.3608_3609delinsTG n.2155_2156delinsTG c.2666_2667delinsTG (p.Val889=) n.212-3239_212-3238delinsTG c.2714_2715delinsTG (p.Val905=) c.2774_2775delinsTG (p.Val925=) c.2324_2325delinsTG (p.Val775=) c.626_627delinsTG (p.Val209=) c.2730+290_2730+291delinsTG (n.2730+290_2730+291delinsTG) c.2396_2397delinsTG (p.Val799=) c.1478_1479delinsTG (p.Val493=) n.3029_3030delinsTG | |
13 | g.51949717del | CA16041668 | ATP7B | c.*643del (n.*643del) c.*1554del (n.*1554del) c.2244+290del (n.2244+290del) c.2810del (p.Val937GlyfsTer5) c.2477del (p.Val826GlyfsTer5) c.2558del (p.Val853GlyfsTer5) c.2576del (p.Val859GlyfsTer5) c.1800+290del (n.1800+290del) c.1520del (p.Val507GlyfsTer5) c.771del n.3608del n.2155del c.2666del (p.Val889GlyfsTer5) n.212-3239del c.2714del (p.Val905GlyfsTer5) c.2774del (p.Val925GlyfsTer5) c.2324del (p.Val775GlyfsTer5) c.626del (p.Val209GlyfsTer5) c.2730+290del (n.2730+290del) c.2396del (p.Val799GlyfsTer5) c.1478del (p.Val493GlyfsTer5) n.3029del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51949717A>C | CA388033554 | ATP7B | c.*643T>G (n.*643T>G) c.*1554T>G (n.*1554T>G) c.2244+290T>G (n.2244+290T>G) c.2810T>G (p.Val937Gly) c.2477T>G (p.Val826Gly) c.2558T>G (p.Val853Gly) c.2576T>G (p.Val859Gly) c.1800+290T>G (n.1800+290T>G) c.1520T>G (p.Val507Gly) c.771T>G n.3608T>G n.2155T>G c.2666T>G (p.Val889Gly) n.212-3239T>G c.2714T>G (p.Val905Gly) c.2774T>G (p.Val925Gly) c.2324T>G (p.Val775Gly) c.626T>G (p.Val209Gly) c.2730+290T>G (n.2730+290T>G) c.2396T>G (p.Val799Gly) c.1478T>G (p.Val493Gly) n.3029T>G | |
13 | g.51949717A>G | CA388033547 | ATP7B | c.*643T>C (n.*643T>C) c.*1554T>C (n.*1554T>C) c.2244+290T>C (n.2244+290T>C) c.2810T>C (p.Val937Ala) c.2477T>C (p.Val826Ala) c.2558T>C (p.Val853Ala) c.2576T>C (p.Val859Ala) c.1800+290T>C (n.1800+290T>C) c.1520T>C (p.Val507Ala) c.771T>C n.3608T>C n.2155T>C c.2666T>C (p.Val889Ala) n.212-3239T>C c.2714T>C (p.Val905Ala) c.2774T>C (p.Val925Ala) c.2324T>C (p.Val775Ala) c.626T>C (p.Val209Ala) c.2730+290T>C (n.2730+290T>C) c.2396T>C (p.Val799Ala) c.1478T>C (p.Val493Ala) n.3029T>C | |
13 | g.51949717A>T | CA388033550 | ATP7B | c.*643T>A (n.*643T>A) c.*1554T>A (n.*1554T>A) c.2244+290T>A (n.2244+290T>A) c.2810T>A (p.Val937Glu) c.2477T>A (p.Val826Glu) c.2558T>A (p.Val853Glu) c.2576T>A (p.Val859Glu) c.1800+290T>A (n.1800+290T>A) c.1520T>A (p.Val507Glu) c.771T>A n.3608T>A n.2155T>A c.2666T>A (p.Val889Glu) n.212-3239T>A c.2714T>A (p.Val905Glu) c.2774T>A (p.Val925Glu) c.2324T>A (p.Val775Glu) c.626T>A (p.Val209Glu) c.2730+290T>A (n.2730+290T>A) c.2396T>A (p.Val799Glu) c.1478T>A (p.Val493Glu) n.3029T>A | |
13 | g.51949718C>A | CA388033557 | ATP7B | c.*642G>T (n.*642G>T) c.*1553G>T (n.*1553G>T) c.2244+289G>T (n.2244+289G>T) c.2809G>T (p.Val937Leu) c.2476G>T (p.Val826Leu) c.2557G>T (p.Val853Leu) c.2575G>T (p.Val859Leu) c.1800+289G>T (n.1800+289G>T) c.1519G>T (p.Val507Leu) c.770G>T n.3607G>T n.2154G>T c.2665G>T (p.Val889Leu) n.212-3240G>T c.2713G>T (p.Val905Leu) c.2773G>T (p.Val925Leu) c.2323G>T (p.Val775Leu) c.625G>T (p.Val209Leu) c.2730+289G>T (n.2730+289G>T) c.2395G>T (p.Val799Leu) c.1477G>T (p.Val493Leu) n.3028G>T | |
13 | g.51949718C>G | CA388033559 | ATP7B | c.*642G>C (n.*642G>C) c.*1553G>C (n.*1553G>C) c.2244+289G>C (n.2244+289G>C) c.2809G>C (p.Val937Leu) c.2476G>C (p.Val826Leu) c.2557G>C (p.Val853Leu) c.2575G>C (p.Val859Leu) c.1800+289G>C (n.1800+289G>C) c.1519G>C (p.Val507Leu) c.770G>C n.3607G>C n.2154G>C c.2665G>C (p.Val889Leu) n.212-3240G>C c.2713G>C (p.Val905Leu) c.2773G>C (p.Val925Leu) c.2323G>C (p.Val775Leu) c.625G>C (p.Val209Leu) c.2730+289G>C (n.2730+289G>C) c.2395G>C (p.Val799Leu) c.1477G>C (p.Val493Leu) n.3028G>C | |
13 | g.51949718C>T | CA388033562 | ATP7B | c.*642G>A (n.*642G>A) c.*1553G>A (n.*1553G>A) c.2244+289G>A (n.2244+289G>A) c.2809G>A (p.Val937Met) c.2476G>A (p.Val826Met) c.2557G>A (p.Val853Met) c.2575G>A (p.Val859Met) c.1800+289G>A (n.1800+289G>A) c.1519G>A (p.Val507Met) c.770G>A n.3607G>A n.2154G>A c.2665G>A (p.Val889Met) n.212-3240G>A c.2713G>A (p.Val905Met) c.2773G>A (p.Val925Met) c.2323G>A (p.Val775Met) c.625G>A (p.Val209Met) c.2730+289G>A (n.2730+289G>A) c.2395G>A (p.Val799Met) c.1477G>A (p.Val493Met) n.3028G>A | |
13 | g.51949719C>A | CA388033569 | ATP7B | c.*641G>T (n.*641G>T) c.*1552G>T (n.*1552G>T) c.2244+288G>T (n.2244+288G>T) c.2808G>T (p.Leu936Phe) c.2475G>T (p.Leu825Phe) c.2556G>T (p.Leu852Phe) c.2574G>T (p.Leu858Phe) c.1800+288G>T (n.1800+288G>T) c.1518G>T (p.Leu506Phe) c.769G>T n.3606G>T n.2153G>T c.2664G>T (p.Leu888Phe) n.212-3241G>T c.2712G>T (p.Leu904Phe) c.2772G>T (p.Leu924Phe) c.2322G>T (p.Leu774Phe) c.624G>T (p.Leu208Phe) c.2730+288G>T (n.2730+288G>T) c.2394G>T (p.Leu798Phe) c.1476G>T (p.Leu492Phe) n.3027G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51949719C= | CA2091541386 | ATP7B | c.*641G= (n.*641G=) c.*1552G= (n.*1552G=) c.2244+288G= (n.2244+288G=) c.2808G= (p.Leu936=) c.2475G= (p.Leu825=) c.2556G= (p.Leu852=) c.2574G= (p.Leu858=) c.1800+288G= (n.1800+288G=) c.1518G= (p.Leu506=) c.769G= n.3606G= n.2153G= c.2664G= (p.Leu888=) n.212-3241G= c.2712G= (p.Leu904=) c.2772G= (p.Leu924=) c.2322G= (p.Leu774=) c.624G= (p.Leu208=) c.2730+288G= (n.2730+288G=) c.2394G= (p.Leu798=) c.1476G= (p.Leu492=) n.3027G= | |
13 | g.51949719C>G | CA388033566 | ATP7B | c.*641G>C (n.*641G>C) c.*1552G>C (n.*1552G>C) c.2244+288G>C (n.2244+288G>C) c.2808G>C (p.Leu936Phe) c.2475G>C (p.Leu825Phe) c.2556G>C (p.Leu852Phe) c.2574G>C (p.Leu858Phe) c.1800+288G>C (n.1800+288G>C) c.1518G>C (p.Leu506Phe) c.769G>C n.3606G>C n.2153G>C c.2664G>C (p.Leu888Phe) n.212-3241G>C c.2712G>C (p.Leu904Phe) c.2772G>C (p.Leu924Phe) c.2322G>C (p.Leu774Phe) c.624G>C (p.Leu208Phe) c.2730+288G>C (n.2730+288G>C) c.2394G>C (p.Leu798Phe) c.1476G>C (p.Leu492Phe) n.3027G>C | |
13 | g.51949719C>T | CA484024494 | ATP7B | c.*641G>A (n.*641G>A) c.*1552G>A (n.*1552G>A) c.2244+288G>A (n.2244+288G>A) c.2808G>A (p.Leu936=) c.2475G>A (p.Leu825=) c.2556G>A (p.Leu852=) c.2574G>A (p.Leu858=) c.1800+288G>A (n.1800+288G>A) c.1518G>A (p.Leu506=) c.769G>A n.3606G>A n.2153G>A c.2664G>A (p.Leu888=) n.212-3241G>A c.2712G>A (p.Leu904=) c.2772G>A (p.Leu924=) c.2322G>A (p.Leu774=) c.624G>A (p.Leu208=) c.2730+288G>A (n.2730+288G>A) c.2394G>A (p.Leu798=) c.1476G>A (p.Leu492=) n.3027G>A | gnomAD v4 |
13 | g.51949720_51949722del | CA2623118046 | ATP7B | c.*639_*641del (n.*639_*641del) c.*1550_*1552del (n.*1550_*1552del) c.2244+286_2244+288del (n.2244+286_2244+288del) c.2806_2808del (p.Leu936del) c.2473_2475del (p.Leu825del) c.2554_2556del (p.Leu852del) c.2572_2574del (p.Leu858del) c.1800+286_1800+288del (n.1800+286_1800+288del) c.1516_1518del (p.Leu506del) c.767_769del n.3604_3606del n.2151_2153del c.2662_2664del (p.Leu888del) n.212-3243_212-3241del c.2710_2712del (p.Leu904del) c.2770_2772del (p.Leu924del) c.2320_2322del (p.Leu774del) c.622_624del (p.Leu208del) c.2730+286_2730+288del (n.2730+286_2730+288del) c.2392_2394del (p.Leu798del) c.1474_1476del (p.Leu492del) n.3025_3027del | gnomAD v4 |
13 | g.51949720A= | CA2091541390 | ATP7B | c.*640T= (n.*640T=) c.*1551T= (n.*1551T=) c.2244+287T= (n.2244+287T=) c.2807T= (p.Leu936=) c.2474T= (p.Leu825=) c.2555T= (p.Leu852=) c.2573T= (p.Leu858=) c.1800+287T= (n.1800+287T=) c.1517T= (p.Leu506=) c.768T= n.3605T= n.2152T= c.2663T= (p.Leu888=) n.212-3242T= c.2711T= (p.Leu904=) c.2771T= (p.Leu924=) c.2321T= (p.Leu774=) c.623T= (p.Leu208=) c.2730+287T= (n.2730+287T=) c.2393T= (p.Leu798=) c.1475T= (p.Leu492=) n.3026T= | |
13 | g.51949720A>C | CA388033572 | ATP7B | c.*640T>G (n.*640T>G) c.*1551T>G (n.*1551T>G) c.2244+287T>G (n.2244+287T>G) c.2807T>G (p.Leu936Trp) c.2474T>G (p.Leu825Trp) c.2555T>G (p.Leu852Trp) c.2573T>G (p.Leu858Trp) c.1800+287T>G (n.1800+287T>G) c.1517T>G (p.Leu506Trp) c.768T>G n.3605T>G n.2152T>G c.2663T>G (p.Leu888Trp) n.212-3242T>G c.2711T>G (p.Leu904Trp) c.2771T>G (p.Leu924Trp) c.2321T>G (p.Leu774Trp) c.623T>G (p.Leu208Trp) c.2730+287T>G (n.2730+287T>G) c.2393T>G (p.Leu798Trp) c.1475T>G (p.Leu492Trp) n.3026T>G | |
13 | g.51949720A>G | CA388033575 | ATP7B | c.*640T>C (n.*640T>C) c.*1551T>C (n.*1551T>C) c.2244+287T>C (n.2244+287T>C) c.2807T>C (p.Leu936Ser) c.2474T>C (p.Leu825Ser) c.2555T>C (p.Leu852Ser) c.2573T>C (p.Leu858Ser) c.1800+287T>C (n.1800+287T>C) c.1517T>C (p.Leu506Ser) c.768T>C n.3605T>C n.2152T>C c.2663T>C (p.Leu888Ser) n.212-3242T>C c.2711T>C (p.Leu904Ser) c.2771T>C (p.Leu924Ser) c.2321T>C (p.Leu774Ser) c.623T>C (p.Leu208Ser) c.2730+287T>C (n.2730+287T>C) c.2393T>C (p.Leu798Ser) c.1475T>C (p.Leu492Ser) n.3026T>C | gnomAD v4 |
13 | g.51949720A>T | CA6988905 | ATP7B | c.*640T>A (n.*640T>A) c.*1551T>A (n.*1551T>A) c.2244+287T>A (n.2244+287T>A) c.2807T>A (p.Leu936Ter) c.2474T>A (p.Leu825Ter) c.2555T>A (p.Leu852Ter) c.2573T>A (p.Leu858Ter) c.1800+287T>A (n.1800+287T>A) c.1517T>A (p.Leu506Ter) c.768T>A n.3605T>A n.2152T>A c.2663T>A (p.Leu888Ter) n.212-3242T>A c.2711T>A (p.Leu904Ter) c.2771T>A (p.Leu924Ter) c.2321T>A (p.Leu774Ter) c.623T>A (p.Leu208Ter) c.2730+287T>A (n.2730+287T>A) c.2393T>A (p.Leu798Ter) c.1475T>A (p.Leu492Ter) n.3026T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51949721A= | CA2091541393 | ATP7B | c.*639T= (n.*639T=) c.*1550T= (n.*1550T=) c.2244+286T= (n.2244+286T=) c.2806T= (p.Leu936=) c.2473T= (p.Leu825=) c.2554T= (p.Leu852=) c.2572T= (p.Leu858=) c.1800+286T= (n.1800+286T=) c.1516T= (p.Leu506=) c.767T= n.3604T= n.2151T= c.2662T= (p.Leu888=) n.212-3243T= c.2710T= (p.Leu904=) c.2770T= (p.Leu924=) c.2320T= (p.Leu774=) c.622T= (p.Leu208=) c.2730+286T= (n.2730+286T=) c.2392T= (p.Leu798=) c.1474T= (p.Leu492=) n.3025T= | |
13 | g.51949721A>C | CA6988906 | ATP7B | c.*639T>G (n.*639T>G) c.*1550T>G (n.*1550T>G) c.2244+286T>G (n.2244+286T>G) c.2806T>G (p.Leu936Val) c.2473T>G (p.Leu825Val) c.2554T>G (p.Leu852Val) c.2572T>G (p.Leu858Val) c.1800+286T>G (n.1800+286T>G) c.1516T>G (p.Leu506Val) c.767T>G n.3604T>G n.2151T>G c.2662T>G (p.Leu888Val) n.212-3243T>G c.2710T>G (p.Leu904Val) c.2770T>G (p.Leu924Val) c.2320T>G (p.Leu774Val) c.622T>G (p.Leu208Val) c.2730+286T>G (n.2730+286T>G) c.2392T>G (p.Leu798Val) c.1474T>G (p.Leu492Val) n.3025T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51949721A>G | CA484024495 | ATP7B | c.*639T>C (n.*639T>C) c.*1550T>C (n.*1550T>C) c.2244+286T>C (n.2244+286T>C) c.2806T>C (p.Leu936=) c.2473T>C (p.Leu825=) c.2554T>C (p.Leu852=) c.2572T>C (p.Leu858=) c.1800+286T>C (n.1800+286T>C) c.1516T>C (p.Leu506=) c.767T>C n.3604T>C n.2151T>C c.2662T>C (p.Leu888=) n.212-3243T>C c.2710T>C (p.Leu904=) c.2770T>C (p.Leu924=) c.2320T>C (p.Leu774=) c.622T>C (p.Leu208=) c.2730+286T>C (n.2730+286T>C) c.2392T>C (p.Leu798=) c.1474T>C (p.Leu492=) n.3025T>C | |
13 | g.51949721A>T | CA388033579 | ATP7B | c.*639T>A (n.*639T>A) c.*1550T>A (n.*1550T>A) c.2244+286T>A (n.2244+286T>A) c.2806T>A (p.Leu936Met) c.2473T>A (p.Leu825Met) c.2554T>A (p.Leu852Met) c.2572T>A (p.Leu858Met) c.1800+286T>A (n.1800+286T>A) c.1516T>A (p.Leu506Met) c.767T>A n.3604T>A n.2151T>A c.2662T>A (p.Leu888Met) n.212-3243T>A c.2710T>A (p.Leu904Met) c.2770T>A (p.Leu924Met) c.2320T>A (p.Leu774Met) c.622T>A (p.Leu208Met) c.2730+286T>A (n.2730+286T>A) c.2392T>A (p.Leu798Met) c.1474T>A (p.Leu492Met) n.3025T>A | |
13 | g.51949722C>A | CA484024496 | ATP7B | c.*638G>T (n.*638G>T) c.*1549G>T (n.*1549G>T) c.2244+285G>T (n.2244+285G>T) c.2805G>T (p.Thr935=) c.2472G>T (p.Thr824=) c.2553G>T (p.Thr851=) c.2571G>T (p.Thr857=) c.1800+285G>T (n.1800+285G>T) c.1515G>T (p.Thr505=) c.766G>T n.3603G>T n.2150G>T c.2661G>T (p.Thr887=) n.212-3244G>T c.2709G>T (p.Thr903=) c.2769G>T (p.Thr923=) c.2319G>T (p.Thr773=) c.621G>T (p.Thr207=) c.2730+285G>T (n.2730+285G>T) c.2391G>T (p.Thr797=) c.1473G>T (p.Thr491=) n.3024G>T | |
13 | g.51949722C= | CA2091541402 | ATP7B | c.*638G= (n.*638G=) c.*1549G= (n.*1549G=) c.2244+285G= (n.2244+285G=) c.2805G= (p.Thr935=) c.2472G= (p.Thr824=) c.2553G= (p.Thr851=) c.2571G= (p.Thr857=) c.1800+285G= (n.1800+285G=) c.1515G= (p.Thr505=) c.766G= n.3603G= n.2150G= c.2661G= (p.Thr887=) n.212-3244G= c.2709G= (p.Thr903=) c.2769G= (p.Thr923=) c.2319G= (p.Thr773=) c.621G= (p.Thr207=) c.2730+285G= (n.2730+285G=) c.2391G= (p.Thr797=) c.1473G= (p.Thr491=) n.3024G= | |
13 | g.51949722C>G | CA484024497 | ATP7B | c.*638G>C (n.*638G>C) c.*1549G>C (n.*1549G>C) c.2244+285G>C (n.2244+285G>C) c.2805G>C (p.Thr935=) c.2472G>C (p.Thr824=) c.2553G>C (p.Thr851=) c.2571G>C (p.Thr857=) c.1800+285G>C (n.1800+285G>C) c.1515G>C (p.Thr505=) c.766G>C n.3603G>C n.2150G>C c.2661G>C (p.Thr887=) n.212-3244G>C c.2709G>C (p.Thr903=) c.2769G>C (p.Thr923=) c.2319G>C (p.Thr773=) c.621G>C (p.Thr207=) c.2730+285G>C (n.2730+285G>C) c.2391G>C (p.Thr797=) c.1473G>C (p.Thr491=) n.3024G>C | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51949722C>T | CA6988907 | ATP7B | c.*638G>A (n.*638G>A) c.*1549G>A (n.*1549G>A) c.2244+285G>A (n.2244+285G>A) c.2805G>A (p.Thr935=) c.2472G>A (p.Thr824=) c.2553G>A (p.Thr851=) c.2571G>A (p.Thr857=) c.1800+285G>A (n.1800+285G>A) c.1515G>A (p.Thr505=) c.766G>A n.3603G>A n.2150G>A c.2661G>A (p.Thr887=) n.212-3244G>A c.2709G>A (p.Thr903=) c.2769G>A (p.Thr923=) c.2319G>A (p.Thr773=) c.621G>A (p.Thr207=) c.2730+285G>A (n.2730+285G>A) c.2391G>A (p.Thr797=) c.1473G>A (p.Thr491=) n.3024G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.51949723G>A | CA273878 | ATP7B | c.*637C>T (n.*637C>T) c.*1548C>T (n.*1548C>T) c.2244+284C>T (n.2244+284C>T) c.2804C>T (p.Thr935Met) c.2471C>T (p.Thr824Met) c.2552C>T (p.Thr851Met) c.2570C>T (p.Thr857Met) c.1800+284C>T (n.1800+284C>T) c.1514C>T (p.Thr505Met) c.765C>T n.3602C>T n.2149C>T c.2660C>T (p.Thr887Met) n.212-3245C>T c.2708C>T (p.Thr903Met) c.2768C>T (p.Thr923Met) c.2318C>T (p.Thr773Met) c.620C>T (p.Thr207Met) c.2730+284C>T (n.2730+284C>T) c.2390C>T (p.Thr797Met) c.1472C>T (p.Thr491Met) n.3023C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51949723G>C | CA388033585 | ATP7B | c.*637C>G (n.*637C>G) c.*1548C>G (n.*1548C>G) c.2244+284C>G (n.2244+284C>G) c.2804C>G (p.Thr935Arg) c.2471C>G (p.Thr824Arg) c.2552C>G (p.Thr851Arg) c.2570C>G (p.Thr857Arg) c.1800+284C>G (n.1800+284C>G) c.1514C>G (p.Thr505Arg) c.765C>G n.3602C>G n.2149C>G c.2660C>G (p.Thr887Arg) n.212-3245C>G c.2708C>G (p.Thr903Arg) c.2768C>G (p.Thr923Arg) c.2318C>G (p.Thr773Arg) c.620C>G (p.Thr207Arg) c.2730+284C>G (n.2730+284C>G) c.2390C>G (p.Thr797Arg) c.1472C>G (p.Thr491Arg) n.3023C>G | |
13 | g.51949723G= | CA2091541406 | ATP7B | c.*637C= (n.*637C=) c.*1548C= (n.*1548C=) c.2244+284C= (n.2244+284C=) c.2804C= (p.Thr935=) c.2471C= (p.Thr824=) c.2552C= (p.Thr851=) c.2570C= (p.Thr857=) c.1800+284C= (n.1800+284C=) c.1514C= (p.Thr505=) c.765C= n.3602C= n.2149C= c.2660C= (p.Thr887=) n.212-3245C= c.2708C= (p.Thr903=) c.2768C= (p.Thr923=) c.2318C= (p.Thr773=) c.620C= (p.Thr207=) c.2730+284C= (n.2730+284C=) c.2390C= (p.Thr797=) c.1472C= (p.Thr491=) n.3023C= | |
13 | g.51949723G>T | CA388033584 | ATP7B | c.*637C>A (n.*637C>A) c.*1548C>A (n.*1548C>A) c.2244+284C>A (n.2244+284C>A) c.2804C>A (p.Thr935Lys) c.2471C>A (p.Thr824Lys) c.2552C>A (p.Thr851Lys) c.2570C>A (p.Thr857Lys) c.1800+284C>A (n.1800+284C>A) c.1514C>A (p.Thr505Lys) c.765C>A n.3602C>A n.2149C>A c.2660C>A (p.Thr887Lys) n.212-3245C>A c.2708C>A (p.Thr903Lys) c.2768C>A (p.Thr923Lys) c.2318C>A (p.Thr773Lys) c.620C>A (p.Thr207Lys) c.2730+284C>A (n.2730+284C>A) c.2390C>A (p.Thr797Lys) c.1472C>A (p.Thr491Lys) n.3023C>A | |
13 | g.51949724T>A | CA388033588 | ATP7B | c.*636A>T (n.*636A>T) c.*1547A>T (n.*1547A>T) c.2244+283A>T (n.2244+283A>T) c.2803A>T (p.Thr935Ser) c.2470A>T (p.Thr824Ser) c.2551A>T (p.Thr851Ser) c.2569A>T (p.Thr857Ser) c.1800+283A>T (n.1800+283A>T) c.1513A>T (p.Thr505Ser) c.764A>T n.3601A>T n.2148A>T c.2659A>T (p.Thr887Ser) n.212-3246A>T c.2707A>T (p.Thr903Ser) c.2767A>T (p.Thr923Ser) c.2317A>T (p.Thr773Ser) c.619A>T (p.Thr207Ser) c.2730+283A>T (n.2730+283A>T) c.2389A>T (p.Thr797Ser) c.1471A>T (p.Thr491Ser) n.3022A>T | |
13 | g.51949724T>C | CA388033591 | ATP7B | c.*636A>G (n.*636A>G) c.*1547A>G (n.*1547A>G) c.2244+283A>G (n.2244+283A>G) c.2803A>G (p.Thr935Ala) c.2470A>G (p.Thr824Ala) c.2551A>G (p.Thr851Ala) c.2569A>G (p.Thr857Ala) c.1800+283A>G (n.1800+283A>G) c.1513A>G (p.Thr505Ala) c.764A>G n.3601A>G n.2148A>G c.2659A>G (p.Thr887Ala) n.212-3246A>G c.2707A>G (p.Thr903Ala) c.2767A>G (p.Thr923Ala) c.2317A>G (p.Thr773Ala) c.619A>G (p.Thr207Ala) c.2730+283A>G (n.2730+283A>G) c.2389A>G (p.Thr797Ala) c.1471A>G (p.Thr491Ala) n.3022A>G | |
13 | g.51949724T>G | CA388033594 | ATP7B | c.*636A>C (n.*636A>C) c.*1547A>C (n.*1547A>C) c.2244+283A>C (n.2244+283A>C) c.2803A>C (p.Thr935Pro) c.2470A>C (p.Thr824Pro) c.2551A>C (p.Thr851Pro) c.2569A>C (p.Thr857Pro) c.1800+283A>C (n.1800+283A>C) c.1513A>C (p.Thr505Pro) c.764A>C n.3601A>C n.2148A>C c.2659A>C (p.Thr887Pro) n.212-3246A>C c.2707A>C (p.Thr903Pro) c.2767A>C (p.Thr923Pro) c.2317A>C (p.Thr773Pro) c.619A>C (p.Thr207Pro) c.2730+283A>C (n.2730+283A>C) c.2389A>C (p.Thr797Pro) c.1471A>C (p.Thr491Pro) n.3022A>C | |
13 | g.51949725C>A | CA388033597 | ATP7B | c.*635G>T (n.*635G>T) c.*1546G>T (n.*1546G>T) c.2244+282G>T (n.2244+282G>T) c.2802G>T (p.Leu934Phe) c.2469G>T (p.Leu823Phe) c.2550G>T (p.Leu850Phe) c.2568G>T (p.Leu856Phe) c.1800+282G>T (n.1800+282G>T) c.1512G>T (p.Leu504Phe) c.763G>T n.3600G>T n.2147G>T c.2658G>T (p.Leu886Phe) n.212-3247G>T c.2706G>T (p.Leu902Phe) c.2766G>T (p.Leu922Phe) c.2316G>T (p.Leu772Phe) c.618G>T (p.Leu206Phe) c.2730+282G>T (n.2730+282G>T) c.2388G>T (p.Leu796Phe) c.1470G>T (p.Leu490Phe) n.3021G>T | |
13 | g.51949725C>G | CA388033599 | ATP7B | c.*635G>C (n.*635G>C) c.*1546G>C (n.*1546G>C) c.2244+282G>C (n.2244+282G>C) c.2802G>C (p.Leu934Phe) c.2469G>C (p.Leu823Phe) c.2550G>C (p.Leu850Phe) c.2568G>C (p.Leu856Phe) c.1800+282G>C (n.1800+282G>C) c.1512G>C (p.Leu504Phe) c.763G>C n.3600G>C n.2147G>C c.2658G>C (p.Leu886Phe) n.212-3247G>C c.2706G>C (p.Leu902Phe) c.2766G>C (p.Leu922Phe) c.2316G>C (p.Leu772Phe) c.618G>C (p.Leu206Phe) c.2730+282G>C (n.2730+282G>C) c.2388G>C (p.Leu796Phe) c.1470G>C (p.Leu490Phe) n.3021G>C | |
13 | g.51949725C>T | CA484024498 | ATP7B | c.*635G>A (n.*635G>A) c.*1546G>A (n.*1546G>A) c.2244+282G>A (n.2244+282G>A) c.2802G>A (p.Leu934=) c.2469G>A (p.Leu823=) c.2550G>A (p.Leu850=) c.2568G>A (p.Leu856=) c.1800+282G>A (n.1800+282G>A) c.1512G>A (p.Leu504=) c.763G>A n.3600G>A n.2147G>A c.2658G>A (p.Leu886=) n.212-3247G>A c.2706G>A (p.Leu902=) c.2766G>A (p.Leu922=) c.2316G>A (p.Leu772=) c.618G>A (p.Leu206=) c.2730+282G>A (n.2730+282G>A) c.2388G>A (p.Leu796=) c.1470G>A (p.Leu490=) n.3021G>A | |
13 | g.51949726A>C | CA388033601 | ATP7B | c.*634T>G (n.*634T>G) c.*1545T>G (n.*1545T>G) c.2244+281T>G (n.2244+281T>G) c.2801T>G (p.Leu934Trp) c.2468T>G (p.Leu823Trp) c.2549T>G (p.Leu850Trp) c.2567T>G (p.Leu856Trp) c.1800+281T>G (n.1800+281T>G) c.1511T>G (p.Leu504Trp) c.762T>G n.3599T>G n.2146T>G c.2657T>G (p.Leu886Trp) n.212-3248T>G c.2705T>G (p.Leu902Trp) c.2765T>G (p.Leu922Trp) c.2315T>G (p.Leu772Trp) c.617T>G (p.Leu206Trp) c.2730+281T>G (n.2730+281T>G) c.2387T>G (p.Leu796Trp) c.1469T>G (p.Leu490Trp) n.3020T>G | gnomAD v4 |
13 | g.51949726A>G | CA388033604 | ATP7B | c.*634T>C (n.*634T>C) c.*1545T>C (n.*1545T>C) c.2244+281T>C (n.2244+281T>C) c.2801T>C (p.Leu934Ser) c.2468T>C (p.Leu823Ser) c.2549T>C (p.Leu850Ser) c.2567T>C (p.Leu856Ser) c.1800+281T>C (n.1800+281T>C) c.1511T>C (p.Leu504Ser) c.762T>C n.3599T>C n.2146T>C c.2657T>C (p.Leu886Ser) n.212-3248T>C c.2705T>C (p.Leu902Ser) c.2765T>C (p.Leu922Ser) c.2315T>C (p.Leu772Ser) c.617T>C (p.Leu206Ser) c.2730+281T>C (n.2730+281T>C) c.2387T>C (p.Leu796Ser) c.1469T>C (p.Leu490Ser) n.3020T>C | |
13 | g.51949726A>T | CA388033606 | ATP7B | c.*634T>A (n.*634T>A) c.*1545T>A (n.*1545T>A) c.2244+281T>A (n.2244+281T>A) c.2801T>A (p.Leu934Ter) c.2468T>A (p.Leu823Ter) c.2549T>A (p.Leu850Ter) c.2567T>A (p.Leu856Ter) c.1800+281T>A (n.1800+281T>A) c.1511T>A (p.Leu504Ter) c.762T>A n.3599T>A n.2146T>A c.2657T>A (p.Leu886Ter) n.212-3248T>A c.2705T>A (p.Leu902Ter) c.2765T>A (p.Leu922Ter) c.2315T>A (p.Leu772Ter) c.617T>A (p.Leu206Ter) c.2730+281T>A (n.2730+281T>A) c.2387T>A (p.Leu796Ter) c.1469T>A (p.Leu490Ter) n.3020T>A | |
13 | g.51949727A>C | CA388033609 | ATP7B | c.*633T>G (n.*633T>G) c.*1544T>G (n.*1544T>G) c.2244+280T>G (n.2244+280T>G) c.2800T>G (p.Leu934Val) c.2467T>G (p.Leu823Val) c.2548T>G (p.Leu850Val) c.2566T>G (p.Leu856Val) c.1800+280T>G (n.1800+280T>G) c.1510T>G (p.Leu504Val) c.761T>G n.3598T>G n.2145T>G c.2656T>G (p.Leu886Val) n.212-3249T>G c.2704T>G (p.Leu902Val) c.2764T>G (p.Leu922Val) c.2314T>G (p.Leu772Val) c.616T>G (p.Leu206Val) c.2730+280T>G (n.2730+280T>G) c.2386T>G (p.Leu796Val) c.1468T>G (p.Leu490Val) n.3019T>G | |
13 | g.51949727A>G | CA484024499 | ATP7B | c.*633T>C (n.*633T>C) c.*1544T>C (n.*1544T>C) c.2244+280T>C (n.2244+280T>C) c.2800T>C (p.Leu934=) c.2467T>C (p.Leu823=) c.2548T>C (p.Leu850=) c.2566T>C (p.Leu856=) c.1800+280T>C (n.1800+280T>C) c.1510T>C (p.Leu504=) c.761T>C n.3598T>C n.2145T>C c.2656T>C (p.Leu886=) n.212-3249T>C c.2704T>C (p.Leu902=) c.2764T>C (p.Leu922=) c.2314T>C (p.Leu772=) c.616T>C (p.Leu206=) c.2730+280T>C (n.2730+280T>C) c.2386T>C (p.Leu796=) c.1468T>C (p.Leu490=) n.3019T>C | |
13 | g.51949727A>T | CA388033611 | ATP7B | c.*633T>A (n.*633T>A) c.*1544T>A (n.*1544T>A) c.2244+280T>A (n.2244+280T>A) c.2800T>A (p.Leu934Met) c.2467T>A (p.Leu823Met) c.2548T>A (p.Leu850Met) c.2566T>A (p.Leu856Met) c.1800+280T>A (n.1800+280T>A) c.1510T>A (p.Leu504Met) c.761T>A n.3598T>A n.2145T>A c.2656T>A (p.Leu886Met) n.212-3249T>A c.2704T>A (p.Leu902Met) c.2764T>A (p.Leu922Met) c.2314T>A (p.Leu772Met) c.616T>A (p.Leu206Met) c.2730+280T>A (n.2730+280T>A) c.2386T>A (p.Leu796Met) c.1468T>A (p.Leu490Met) n.3019T>A | |
13 | g.51949728A>C | CA484024500 | ATP7B | c.*632T>G (n.*632T>G) c.*1543T>G (n.*1543T>G) c.2244+279T>G (n.2244+279T>G) c.2799T>G (p.Thr933=) c.2466T>G (p.Thr822=) c.2547T>G (p.Thr849=) c.2565T>G (p.Thr855=) c.1800+279T>G (n.1800+279T>G) c.1509T>G (p.Thr503=) c.760T>G n.3597T>G n.2144T>G c.2655T>G (p.Thr885=) n.212-3250T>G c.2703T>G (p.Thr901=) c.2763T>G (p.Thr921=) c.2313T>G (p.Thr771=) c.615T>G (p.Thr205=) c.2730+279T>G (n.2730+279T>G) c.2385T>G (p.Thr795=) c.1467T>G (p.Thr489=) n.3018T>G | |
13 | g.51949728A>G | CA484024501 | ATP7B | c.*632T>C (n.*632T>C) c.*1543T>C (n.*1543T>C) c.2244+279T>C (n.2244+279T>C) c.2799T>C (p.Thr933=) c.2466T>C (p.Thr822=) c.2547T>C (p.Thr849=) c.2565T>C (p.Thr855=) c.1800+279T>C (n.1800+279T>C) c.1509T>C (p.Thr503=) c.760T>C n.3597T>C n.2144T>C c.2655T>C (p.Thr885=) n.212-3250T>C c.2703T>C (p.Thr901=) c.2763T>C (p.Thr921=) c.2313T>C (p.Thr771=) c.615T>C (p.Thr205=) c.2730+279T>C (n.2730+279T>C) c.2385T>C (p.Thr795=) c.1467T>C (p.Thr489=) n.3018T>C | |
13 | g.51949728A>T | CA484024502 | ATP7B | c.*632T>A (n.*632T>A) c.*1543T>A (n.*1543T>A) c.2244+279T>A (n.2244+279T>A) c.2799T>A (p.Thr933=) c.2466T>A (p.Thr822=) c.2547T>A (p.Thr849=) c.2565T>A (p.Thr855=) c.1800+279T>A (n.1800+279T>A) c.1509T>A (p.Thr503=) c.760T>A n.3597T>A n.2144T>A c.2655T>A (p.Thr885=) n.212-3250T>A c.2703T>A (p.Thr901=) c.2763T>A (p.Thr921=) c.2313T>A (p.Thr771=) c.615T>A (p.Thr205=) c.2730+279T>A (n.2730+279T>A) c.2385T>A (p.Thr795=) c.1467T>A (p.Thr489=) n.3018T>A | |
13 | g.51949729G>A | CA388033615 | ATP7B | c.*631C>T (n.*631C>T) c.*1542C>T (n.*1542C>T) c.2244+278C>T (n.2244+278C>T) c.2798C>T (p.Thr933Ile) c.2465C>T (p.Thr822Ile) c.2546C>T (p.Thr849Ile) c.2564C>T (p.Thr855Ile) c.1800+278C>T (n.1800+278C>T) c.1508C>T (p.Thr503Ile) c.759C>T n.3596C>T n.2143C>T c.2654C>T (p.Thr885Ile) n.212-3251C>T c.2702C>T (p.Thr901Ile) c.2762C>T (p.Thr921Ile) c.2312C>T (p.Thr771Ile) c.614C>T (p.Thr205Ile) c.2730+278C>T (n.2730+278C>T) c.2384C>T (p.Thr795Ile) c.1466C>T (p.Thr489Ile) n.3017C>T | |
13 | g.51949729G>C | CA388033618 | ATP7B | c.*631C>G (n.*631C>G) c.*1542C>G (n.*1542C>G) c.2244+278C>G (n.2244+278C>G) c.2798C>G (p.Thr933Ser) c.2465C>G (p.Thr822Ser) c.2546C>G (p.Thr849Ser) c.2564C>G (p.Thr855Ser) c.1800+278C>G (n.1800+278C>G) c.1508C>G (p.Thr503Ser) c.759C>G n.3596C>G n.2143C>G c.2654C>G (p.Thr885Ser) n.212-3251C>G c.2702C>G (p.Thr901Ser) c.2762C>G (p.Thr921Ser) c.2312C>G (p.Thr771Ser) c.614C>G (p.Thr205Ser) c.2730+278C>G (n.2730+278C>G) c.2384C>G (p.Thr795Ser) c.1466C>G (p.Thr489Ser) n.3017C>G | |
13 | g.51949729G>T | CA388033620 | ATP7B | c.*631C>A (n.*631C>A) c.*1542C>A (n.*1542C>A) c.2244+278C>A (n.2244+278C>A) c.2798C>A (p.Thr933Asn) c.2465C>A (p.Thr822Asn) c.2546C>A (p.Thr849Asn) c.2564C>A (p.Thr855Asn) c.1800+278C>A (n.1800+278C>A) c.1508C>A (p.Thr503Asn) c.759C>A n.3596C>A n.2143C>A c.2654C>A (p.Thr885Asn) n.212-3251C>A c.2702C>A (p.Thr901Asn) c.2762C>A (p.Thr921Asn) c.2312C>A (p.Thr771Asn) c.614C>A (p.Thr205Asn) c.2730+278C>A (n.2730+278C>A) c.2384C>A (p.Thr795Asn) c.1466C>A (p.Thr489Asn) n.3017C>A | |
13 | g.51949729_51949730delinsGT | CA2091541411 | ATP7B | c.*630_*631delinsAC (n.*630_*631delinsAC) c.*1541_*1542delinsAC (n.*1541_*1542delinsAC) c.2244+277_2244+278delinsAC (n.2244+277_2244+278delinsAC) c.2797_2798delinsAC (p.Thr933=) c.2464_2465delinsAC (p.Thr822=) c.2545_2546delinsAC (p.Thr849=) c.2563_2564delinsAC (p.Thr855=) c.1800+277_1800+278delinsAC (n.1800+277_1800+278delinsAC) c.1507_1508delinsAC (p.Thr503=) c.758_759delinsAC n.3595_3596delinsAC n.2142_2143delinsAC c.2653_2654delinsAC (p.Thr885=) n.212-3252_212-3251delinsAC c.2701_2702delinsAC (p.Thr901=) c.2761_2762delinsAC (p.Thr921=) c.2311_2312delinsAC (p.Thr771=) c.613_614delinsAC (p.Thr205=) c.2730+277_2730+278delinsAC (n.2730+277_2730+278delinsAC) c.2383_2384delinsAC (p.Thr795=) c.1465_1466delinsAC (p.Thr489=) n.3016_3017delinsAC | |
13 | g.51949730T>A | CA388033629 | ATP7B | c.*630A>T (n.*630A>T) c.*1541A>T (n.*1541A>T) c.2244+277A>T (n.2244+277A>T) c.2797A>T (p.Thr933Ser) c.2464A>T (p.Thr822Ser) c.2545A>T (p.Thr849Ser) c.2563A>T (p.Thr855Ser) c.1800+277A>T (n.1800+277A>T) c.1507A>T (p.Thr503Ser) c.758A>T n.3595A>T n.2142A>T c.2653A>T (p.Thr885Ser) n.212-3252A>T c.2701A>T (p.Thr901Ser) c.2761A>T (p.Thr921Ser) c.2311A>T (p.Thr771Ser) c.613A>T (p.Thr205Ser) c.2730+277A>T (n.2730+277A>T) c.2383A>T (p.Thr795Ser) c.1465A>T (p.Thr489Ser) n.3016A>T | |
13 | g.51949730T>C | CA388033624 | ATP7B | c.*630A>G (n.*630A>G) c.*1541A>G (n.*1541A>G) c.2244+277A>G (n.2244+277A>G) c.2797A>G (p.Thr933Ala) c.2464A>G (p.Thr822Ala) c.2545A>G (p.Thr849Ala) c.2563A>G (p.Thr855Ala) c.1800+277A>G (n.1800+277A>G) c.1507A>G (p.Thr503Ala) c.758A>G n.3595A>G n.2142A>G c.2653A>G (p.Thr885Ala) n.212-3252A>G c.2701A>G (p.Thr901Ala) c.2761A>G (p.Thr921Ala) c.2311A>G (p.Thr771Ala) c.613A>G (p.Thr205Ala) c.2730+277A>G (n.2730+277A>G) c.2383A>G (p.Thr795Ala) c.1465A>G (p.Thr489Ala) n.3016A>G | |
13 | g.51949730T>G | CA388033626 | ATP7B | c.*630A>C (n.*630A>C) c.*1541A>C (n.*1541A>C) c.2244+277A>C (n.2244+277A>C) c.2797A>C (p.Thr933Pro) c.2464A>C (p.Thr822Pro) c.2545A>C (p.Thr849Pro) c.2563A>C (p.Thr855Pro) c.1800+277A>C (n.1800+277A>C) c.1507A>C (p.Thr503Pro) c.758A>C n.3595A>C n.2142A>C c.2653A>C (p.Thr885Pro) n.212-3252A>C c.2701A>C (p.Thr901Pro) c.2761A>C (p.Thr921Pro) c.2311A>C (p.Thr771Pro) c.613A>C (p.Thr205Pro) c.2730+277A>C (n.2730+277A>C) c.2383A>C (p.Thr795Pro) c.1465A>C (p.Thr489Pro) n.3016A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.51949730T= | CA2091541416 | ATP7B | c.*630A= (n.*630A=) c.*1541A= (n.*1541A=) c.2244+277A= (n.2244+277A=) c.2797A= (p.Thr933=) c.2464A= (p.Thr822=) c.2545A= (p.Thr849=) c.2563A= (p.Thr855=) c.1800+277A= (n.1800+277A=) c.1507A= (p.Thr503=) c.758A= n.3595A= n.2142A= c.2653A= (p.Thr885=) n.212-3252A= c.2701A= (p.Thr901=) c.2761A= (p.Thr921=) c.2311A= (p.Thr771=) c.613A= (p.Thr205=) c.2730+277A= (n.2730+277A=) c.2383A= (p.Thr795=) c.1465A= (p.Thr489=) n.3016A= | |
13 | g.51949731del | CA610425774 | ATP7B | c.*630del (n.*630del) c.*1541del (n.*1541del) c.2244+277del (n.2244+277del) c.2797del (p.Thr933LeufsTer2) c.2464del (p.Thr822LeufsTer2) c.2545del (p.Thr849LeufsTer2) c.2563del (p.Thr855LeufsTer2) c.1800+277del (n.1800+277del) c.1507del (p.Thr503LeufsTer2) c.758del n.3595del n.2142del c.2653del (p.Thr885LeufsTer2) n.212-3252del c.2701del (p.Thr901LeufsTer2) c.2761del (p.Thr921LeufsTer2) c.2311del (p.Thr771LeufsTer2) c.613del (p.Thr205LeufsTer2) c.2730+277del (n.2730+277del) c.2383del (p.Thr795LeufsTer2) c.1465del (p.Thr489LeufsTer2) n.3016del | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51949731T>A | CA484024503 | ATP7B | c.*629A>T (n.*629A>T) c.*1540A>T (n.*1540A>T) c.2244+276A>T (n.2244+276A>T) c.2796A>T (p.Ser932=) c.2463A>T (p.Ser821=) c.2544A>T (p.Ser848=) c.2562A>T (p.Ser854=) c.1800+276A>T (n.1800+276A>T) c.1506A>T (p.Ser502=) c.757A>T n.3594A>T n.2141A>T c.2652A>T (p.Ser884=) n.212-3253A>T c.2700A>T (p.Ser900=) c.2760A>T (p.Ser920=) c.2310A>T (p.Ser770=) c.612A>T (p.Ser204=) c.2730+276A>T (n.2730+276A>T) c.2382A>T (p.Ser794=) c.1464A>T (p.Ser488=) n.3015A>T | |
13 | g.51949731T>C | CA484024504 | ATP7B | c.*629A>G (n.*629A>G) c.*1540A>G (n.*1540A>G) c.2244+276A>G (n.2244+276A>G) c.2796A>G (p.Ser932=) c.2463A>G (p.Ser821=) c.2544A>G (p.Ser848=) c.2562A>G (p.Ser854=) c.1800+276A>G (n.1800+276A>G) c.1506A>G (p.Ser502=) c.757A>G n.3594A>G n.2141A>G c.2652A>G (p.Ser884=) n.212-3253A>G c.2700A>G (p.Ser900=) c.2760A>G (p.Ser920=) c.2310A>G (p.Ser770=) c.612A>G (p.Ser204=) c.2730+276A>G (n.2730+276A>G) c.2382A>G (p.Ser794=) c.1464A>G (p.Ser488=) n.3015A>G | ClinVar dbSNP |
13 | g.51949731T>G | CA484024505 | ATP7B | c.*629A>C (n.*629A>C) c.*1540A>C (n.*1540A>C) c.2244+276A>C (n.2244+276A>C) c.2796A>C (p.Ser932=) c.2463A>C (p.Ser821=) c.2544A>C (p.Ser848=) c.2562A>C (p.Ser854=) c.1800+276A>C (n.1800+276A>C) c.1506A>C (p.Ser502=) c.757A>C n.3594A>C n.2141A>C c.2652A>C (p.Ser884=) n.212-3253A>C c.2700A>C (p.Ser900=) c.2760A>C (p.Ser920=) c.2310A>C (p.Ser770=) c.612A>C (p.Ser204=) c.2730+276A>C (n.2730+276A>C) c.2382A>C (p.Ser794=) c.1464A>C (p.Ser488=) n.3015A>C | |
13 | g.51949731T= | CA2091541420 | ATP7B | c.*629A= (n.*629A=) c.*1540A= (n.*1540A=) c.2244+276A= (n.2244+276A=) c.2796A= (p.Ser932=) c.2463A= (p.Ser821=) c.2544A= (p.Ser848=) c.2562A= (p.Ser854=) c.1800+276A= (n.1800+276A=) c.1506A= (p.Ser502=) c.757A= n.3594A= n.2141A= c.2652A= (p.Ser884=) n.212-3253A= c.2700A= (p.Ser900=) c.2760A= (p.Ser920=) c.2310A= (p.Ser770=) c.612A= (p.Ser204=) c.2730+276A= (n.2730+276A=) c.2382A= (p.Ser794=) c.1464A= (p.Ser488=) n.3015A= | |
13 | g.51949732G>A | CA388033634 | ATP7B | c.*628C>T (n.*628C>T) c.*1539C>T (n.*1539C>T) c.2244+275C>T (n.2244+275C>T) c.2795C>T (p.Ser932Leu) c.2462C>T (p.Ser821Leu) c.2543C>T (p.Ser848Leu) c.2561C>T (p.Ser854Leu) c.1800+275C>T (n.1800+275C>T) c.1505C>T (p.Ser502Leu) c.756C>T n.3593C>T n.2140C>T c.2651C>T (p.Ser884Leu) n.212-3254C>T c.2699C>T (p.Ser900Leu) c.2759C>T (p.Ser920Leu) c.2309C>T (p.Ser770Leu) c.611C>T (p.Ser204Leu) c.2730+275C>T (n.2730+275C>T) c.2381C>T (p.Ser794Leu) c.1463C>T (p.Ser488Leu) n.3014C>T | gnomAD v4 |
13 | g.51949732G>C | CA388033635 | ATP7B | c.*628C>G (n.*628C>G) c.*1539C>G (n.*1539C>G) c.2244+275C>G (n.2244+275C>G) c.2795C>G (p.Ser932Ter) c.2462C>G (p.Ser821Ter) c.2543C>G (p.Ser848Ter) c.2561C>G (p.Ser854Ter) c.1800+275C>G (n.1800+275C>G) c.1505C>G (p.Ser502Ter) c.756C>G n.3593C>G n.2140C>G c.2651C>G (p.Ser884Ter) n.212-3254C>G c.2699C>G (p.Ser900Ter) c.2759C>G (p.Ser920Ter) c.2309C>G (p.Ser770Ter) c.611C>G (p.Ser204Ter) c.2730+275C>G (n.2730+275C>G) c.2381C>G (p.Ser794Ter) c.1463C>G (p.Ser488Ter) n.3014C>G | dbSNP gnomAD v4 |
13 | g.51949732G= | CA2091541426 | ATP7B | c.*628C= (n.*628C=) c.*1539C= (n.*1539C=) c.2244+275C= (n.2244+275C=) c.2795C= (p.Ser932=) c.2462C= (p.Ser821=) c.2543C= (p.Ser848=) c.2561C= (p.Ser854=) c.1800+275C= (n.1800+275C=) c.1505C= (p.Ser502=) c.756C= n.3593C= n.2140C= c.2651C= (p.Ser884=) n.212-3254C= c.2699C= (p.Ser900=) c.2759C= (p.Ser920=) c.2309C= (p.Ser770=) c.611C= (p.Ser204=) c.2730+275C= (n.2730+275C=) c.2381C= (p.Ser794=) c.1463C= (p.Ser488=) n.3014C= | |
13 | g.51949732G>T | CA388033637 | ATP7B | c.*628C>A (n.*628C>A) c.*1539C>A (n.*1539C>A) c.2244+275C>A (n.2244+275C>A) c.2795C>A (p.Ser932Ter) c.2462C>A (p.Ser821Ter) c.2543C>A (p.Ser848Ter) c.2561C>A (p.Ser854Ter) c.1800+275C>A (n.1800+275C>A) c.1505C>A (p.Ser502Ter) c.756C>A n.3593C>A n.2140C>A c.2651C>A (p.Ser884Ter) n.212-3254C>A c.2699C>A (p.Ser900Ter) c.2759C>A (p.Ser920Ter) c.2309C>A (p.Ser770Ter) c.611C>A (p.Ser204Ter) c.2730+275C>A (n.2730+275C>A) c.2381C>A (p.Ser794Ter) c.1463C>A (p.Ser488Ter) n.3014C>A | ClinVar dbSNP |
13 | g.51949733A>C | CA388033640 | ATP7B | c.*627T>G (n.*627T>G) c.*1538T>G (n.*1538T>G) c.2244+274T>G (n.2244+274T>G) c.2794T>G (p.Ser932Ala) c.2461T>G (p.Ser821Ala) c.2542T>G (p.Ser848Ala) c.2560T>G (p.Ser854Ala) c.1800+274T>G (n.1800+274T>G) c.1504T>G (p.Ser502Ala) c.755T>G n.3592T>G n.2139T>G c.2650T>G (p.Ser884Ala) n.212-3255T>G c.2698T>G (p.Ser900Ala) c.2758T>G (p.Ser920Ala) c.2308T>G (p.Ser770Ala) c.610T>G (p.Ser204Ala) c.2730+274T>G (n.2730+274T>G) c.2380T>G (p.Ser794Ala) c.1462T>G (p.Ser488Ala) n.3013T>G | |
13 | g.51949733A>G | CA388033643 | ATP7B | c.*627T>C (n.*627T>C) c.*1538T>C (n.*1538T>C) c.2244+274T>C (n.2244+274T>C) c.2794T>C (p.Ser932Pro) c.2461T>C (p.Ser821Pro) c.2542T>C (p.Ser848Pro) c.2560T>C (p.Ser854Pro) c.1800+274T>C (n.1800+274T>C) c.1504T>C (p.Ser502Pro) c.755T>C n.3592T>C n.2139T>C c.2650T>C (p.Ser884Pro) n.212-3255T>C c.2698T>C (p.Ser900Pro) c.2758T>C (p.Ser920Pro) c.2308T>C (p.Ser770Pro) c.610T>C (p.Ser204Pro) c.2730+274T>C (n.2730+274T>C) c.2380T>C (p.Ser794Pro) c.1462T>C (p.Ser488Pro) n.3013T>C | |
13 | g.51949733A>T | CA388033645 | ATP7B | c.*627T>A (n.*627T>A) c.*1538T>A (n.*1538T>A) c.2244+274T>A (n.2244+274T>A) c.2794T>A (p.Ser932Thr) c.2461T>A (p.Ser821Thr) c.2542T>A (p.Ser848Thr) c.2560T>A (p.Ser854Thr) c.1800+274T>A (n.1800+274T>A) c.1504T>A (p.Ser502Thr) c.755T>A n.3592T>A n.2139T>A c.2650T>A (p.Ser884Thr) n.212-3255T>A c.2698T>A (p.Ser900Thr) c.2758T>A (p.Ser920Thr) c.2308T>A (p.Ser770Thr) c.610T>A (p.Ser204Thr) c.2730+274T>A (n.2730+274T>A) c.2380T>A (p.Ser794Thr) c.1462T>A (p.Ser488Thr) n.3013T>A | |
13 | g.51949734_51949735dup | CA2695218781 | ATP7B | c.*626_*627dup (n.*626_*627dup) c.*1537_*1538dup (n.*1537_*1538dup) c.2244+273_2244+274dup (n.2244+273_2244+274dup) c.2793_2794dup (p.Ser932CysfsTer4) c.2460_2461dup (p.Ser821CysfsTer4) c.2541_2542dup (p.Ser848CysfsTer4) c.2559_2560dup (p.Ser854CysfsTer4) c.1800+273_1800+274dup (n.1800+273_1800+274dup) c.1503_1504dup (p.Ser502CysfsTer4) c.754_755dup n.3591_3592dup n.2138_2139dup c.2649_2650dup (p.Ser884CysfsTer4) n.212-3256_212-3255dup c.2697_2698dup (p.Ser900CysfsTer4) c.2757_2758dup (p.Ser920CysfsTer4) c.2307_2308dup (p.Ser770CysfsTer4) c.609_610dup (p.Ser204CysfsTer4) c.2730+273_2730+274dup (n.2730+273_2730+274dup) c.2379_2380dup (p.Ser794CysfsTer4) c.1461_1462dup (p.Ser488CysfsTer4) n.3012_3013dup | |
13 | g.51949734C>A | CA388033648 | ATP7B | c.*626G>T (n.*626G>T) c.*1537G>T (n.*1537G>T) c.2244+273G>T (n.2244+273G>T) c.2793G>T (p.Met931Ile) c.2460G>T (p.Met820Ile) c.2541G>T (p.Met847Ile) c.2559G>T (p.Met853Ile) c.1800+273G>T (n.1800+273G>T) c.1503G>T (p.Met501Ile) c.754G>T n.3591G>T n.2138G>T c.2649G>T (p.Met883Ile) n.212-3256G>T c.2697G>T (p.Met899Ile) c.2757G>T (p.Met919Ile) c.2307G>T (p.Met769Ile) c.609G>T (p.Met203Ile) c.2730+273G>T (n.2730+273G>T) c.2379G>T (p.Met793Ile) c.1461G>T (p.Met487Ile) n.3012G>T | |
13 | g.51949734C>G | CA388033650 | ATP7B | c.*626G>C (n.*626G>C) c.*1537G>C (n.*1537G>C) c.2244+273G>C (n.2244+273G>C) c.2793G>C (p.Met931Ile) c.2460G>C (p.Met820Ile) c.2541G>C (p.Met847Ile) c.2559G>C (p.Met853Ile) c.1800+273G>C (n.1800+273G>C) c.1503G>C (p.Met501Ile) c.754G>C n.3591G>C n.2138G>C c.2649G>C (p.Met883Ile) n.212-3256G>C c.2697G>C (p.Met899Ile) c.2757G>C (p.Met919Ile) c.2307G>C (p.Met769Ile) c.609G>C (p.Met203Ile) c.2730+273G>C (n.2730+273G>C) c.2379G>C (p.Met793Ile) c.1461G>C (p.Met487Ile) n.3012G>C | |
13 | g.51949734C>T | CA388033652 | ATP7B | c.*626G>A (n.*626G>A) c.*1537G>A (n.*1537G>A) c.2244+273G>A (n.2244+273G>A) c.2793G>A (p.Met931Ile) c.2460G>A (p.Met820Ile) c.2541G>A (p.Met847Ile) c.2559G>A (p.Met853Ile) c.1800+273G>A (n.1800+273G>A) c.1503G>A (p.Met501Ile) c.754G>A n.3591G>A n.2138G>A c.2649G>A (p.Met883Ile) n.212-3256G>A c.2697G>A (p.Met899Ile) c.2757G>A (p.Met919Ile) c.2307G>A (p.Met769Ile) c.609G>A (p.Met203Ile) c.2730+273G>A (n.2730+273G>A) c.2379G>A (p.Met793Ile) c.1461G>A (p.Met487Ile) n.3012G>A | |
13 | g.51949734_51949737delinsCATG | CA2091541429 | ATP7B | c.*623_*626delinsCATG (n.*623_*626delinsCATG) c.*1534_*1537delinsCATG (n.*1534_*1537delinsCATG) c.2244+270_2244+273delinsCATG (n.2244+270_2244+273delinsCATG) c.2790_2793delinsCATG (p.Ile930=) c.2457_2460delinsCATG (p.Ile819=) c.2538_2541delinsCATG (p.Ile846=) c.2556_2559delinsCATG (p.Ile852=) c.1800+270_1800+273delinsCATG (n.1800+270_1800+273delinsCATG) c.1500_1503delinsCATG (p.Ile500=) c.751_754delinsCATG n.3588_3591delinsCATG n.2135_2138delinsCATG c.2646_2649delinsCATG (p.Ile882=) n.212-3259_212-3256delinsCATG c.2694_2697delinsCATG (p.Ile898=) c.2754_2757delinsCATG (p.Ile918=) c.2304_2307delinsCATG (p.Ile768=) c.606_609delinsCATG (p.Ile202=) c.2730+270_2730+273delinsCATG (n.2730+270_2730+273delinsCATG) c.2376_2379delinsCATG (p.Ile792=) c.1458_1461delinsCATG (p.Ile486=) n.3009_3012delinsCATG | |
13 | g.51949735A= | CA2091541438 | ATP7B | c.*625T= (n.*625T=) c.*1536T= (n.*1536T=) c.2244+272T= (n.2244+272T=) c.2792T= (p.Met931=) c.2459T= (p.Met820=) c.2540T= (p.Met847=) c.2558T= (p.Met853=) c.1800+272T= (n.1800+272T=) c.1502T= (p.Met501=) c.753T= n.3590T= n.2137T= c.2648T= (p.Met883=) n.212-3257T= c.2696T= (p.Met899=) c.2756T= (p.Met919=) c.2306T= (p.Met769=) c.608T= (p.Met203=) c.2730+272T= (n.2730+272T=) c.2378T= (p.Met793=) c.1460T= (p.Met487=) n.3011T= | |
13 | g.51949735A>C | CA388033655 | ATP7B | c.*625T>G (n.*625T>G) c.*1536T>G (n.*1536T>G) c.2244+272T>G (n.2244+272T>G) c.2792T>G (p.Met931Arg) c.2459T>G (p.Met820Arg) c.2540T>G (p.Met847Arg) c.2558T>G (p.Met853Arg) c.1800+272T>G (n.1800+272T>G) c.1502T>G (p.Met501Arg) c.753T>G n.3590T>G n.2137T>G c.2648T>G (p.Met883Arg) n.212-3257T>G c.2696T>G (p.Met899Arg) c.2756T>G (p.Met919Arg) c.2306T>G (p.Met769Arg) c.608T>G (p.Met203Arg) c.2730+272T>G (n.2730+272T>G) c.2378T>G (p.Met793Arg) c.1460T>G (p.Met487Arg) n.3011T>G | |
13 | g.51949735A>G | CA6988908 | ATP7B | c.*625T>C (n.*625T>C) c.*1536T>C (n.*1536T>C) c.2244+272T>C (n.2244+272T>C) c.2792T>C (p.Met931Thr) c.2459T>C (p.Met820Thr) c.2540T>C (p.Met847Thr) c.2558T>C (p.Met853Thr) c.1800+272T>C (n.1800+272T>C) c.1502T>C (p.Met501Thr) c.753T>C n.3590T>C n.2137T>C c.2648T>C (p.Met883Thr) n.212-3257T>C c.2696T>C (p.Met899Thr) c.2756T>C (p.Met919Thr) c.2306T>C (p.Met769Thr) c.608T>C (p.Met203Thr) c.2730+272T>C (n.2730+272T>C) c.2378T>C (p.Met793Thr) c.1460T>C (p.Met487Thr) n.3011T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51949735A>T | CA388033659 | ATP7B | c.*625T>A (n.*625T>A) c.*1536T>A (n.*1536T>A) c.2244+272T>A (n.2244+272T>A) c.2792T>A (p.Met931Lys) c.2459T>A (p.Met820Lys) c.2540T>A (p.Met847Lys) c.2558T>A (p.Met853Lys) c.1800+272T>A (n.1800+272T>A) c.1502T>A (p.Met501Lys) c.753T>A n.3590T>A n.2137T>A c.2648T>A (p.Met883Lys) n.212-3257T>A c.2696T>A (p.Met899Lys) c.2756T>A (p.Met919Lys) c.2306T>A (p.Met769Lys) c.608T>A (p.Met203Lys) c.2730+272T>A (n.2730+272T>A) c.2378T>A (p.Met793Lys) c.1460T>A (p.Met487Lys) n.3011T>A | |
13 | g.51949743_51949745del | CA610425775 | ATP7B | c.*623_*625del (n.*623_*625del) c.*1534_*1536del (n.*1534_*1536del) c.2244+270_2244+272del (n.2244+270_2244+272del) c.2790_2792del (p.Ile930del) c.2457_2459del (p.Ile819del) c.2538_2540del (p.Ile846del) c.2556_2558del (p.Ile852del) c.1800+270_1800+272del (n.1800+270_1800+272del) c.1500_1502del (p.Ile500del) c.751_753del n.3588_3590del n.2135_2137del c.2646_2648del (p.Ile882del) n.212-3259_212-3257del c.2694_2696del (p.Ile898del) c.2754_2756del (p.Ile918del) c.2304_2306del (p.Ile768del) c.606_608del (p.Ile202del) c.2730+270_2730+272del (n.2730+270_2730+272del) c.2376_2378del (p.Ile792del) c.1458_1460del (p.Ile486del) n.3009_3011del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51949736T>A | CA388033672 | ATP7B | c.*624A>T (n.*624A>T) c.*1535A>T (n.*1535A>T) c.2244+271A>T (n.2244+271A>T) c.2791A>T (p.Met931Leu) c.2458A>T (p.Met820Leu) c.2539A>T (p.Met847Leu) c.2557A>T (p.Met853Leu) c.1800+271A>T (n.1800+271A>T) c.1501A>T (p.Met501Leu) c.752A>T n.3589A>T n.2136A>T c.2647A>T (p.Met883Leu) n.212-3258A>T c.2695A>T (p.Met899Leu) c.2755A>T (p.Met919Leu) c.2305A>T (p.Met769Leu) c.607A>T (p.Met203Leu) c.2730+271A>T (n.2730+271A>T) c.2377A>T (p.Met793Leu) c.1459A>T (p.Met487Leu) n.3010A>T | gnomAD v4 |
13 | g.51949736T>C | CA388033663 | ATP7B | c.*624A>G (n.*624A>G) c.*1535A>G (n.*1535A>G) c.2244+271A>G (n.2244+271A>G) c.2791A>G (p.Met931Val) c.2458A>G (p.Met820Val) c.2539A>G (p.Met847Val) c.2557A>G (p.Met853Val) c.1800+271A>G (n.1800+271A>G) c.1501A>G (p.Met501Val) c.752A>G n.3589A>G n.2136A>G c.2647A>G (p.Met883Val) n.212-3258A>G c.2695A>G (p.Met899Val) c.2755A>G (p.Met919Val) c.2305A>G (p.Met769Val) c.607A>G (p.Met203Val) c.2730+271A>G (n.2730+271A>G) c.2377A>G (p.Met793Val) c.1459A>G (p.Met487Val) n.3010A>G | gnomAD v3 gnomAD v4 |
13 | g.51949736T>G | CA388033669 | ATP7B | c.*624A>C (n.*624A>C) c.*1535A>C (n.*1535A>C) c.2244+271A>C (n.2244+271A>C) c.2791A>C (p.Met931Leu) c.2458A>C (p.Met820Leu) c.2539A>C (p.Met847Leu) c.2557A>C (p.Met853Leu) c.1800+271A>C (n.1800+271A>C) c.1501A>C (p.Met501Leu) c.752A>C n.3589A>C n.2136A>C c.2647A>C (p.Met883Leu) n.212-3258A>C c.2695A>C (p.Met899Leu) c.2755A>C (p.Met919Leu) c.2305A>C (p.Met769Leu) c.607A>C (p.Met203Leu) c.2730+271A>C (n.2730+271A>C) c.2377A>C (p.Met793Leu) c.1459A>C (p.Met487Leu) n.3010A>C | |
13 | g.51949737G>A | CA484024506 | ATP7B | c.*623C>T (n.*623C>T) c.*1534C>T (n.*1534C>T) c.2244+270C>T (n.2244+270C>T) c.2790C>T (p.Ile930=) c.2457C>T (p.Ile819=) c.2538C>T (p.Ile846=) c.2556C>T (p.Ile852=) c.1800+270C>T (n.1800+270C>T) c.1500C>T (p.Ile500=) c.751C>T n.3588C>T n.2135C>T c.2646C>T (p.Ile882=) n.212-3259C>T c.2694C>T (p.Ile898=) c.2754C>T (p.Ile918=) c.2304C>T (p.Ile768=) c.606C>T (p.Ile202=) c.2730+270C>T (n.2730+270C>T) c.2376C>T (p.Ile792=) c.1458C>T (p.Ile486=) n.3009C>T | gnomAD v4 |
13 | g.51949737G>C | CA388033675 | ATP7B | c.*623C>G (n.*623C>G) c.*1534C>G (n.*1534C>G) c.2244+270C>G (n.2244+270C>G) c.2790C>G (p.Ile930Met) c.2457C>G (p.Ile819Met) c.2538C>G (p.Ile846Met) c.2556C>G (p.Ile852Met) c.1800+270C>G (n.1800+270C>G) c.1500C>G (p.Ile500Met) c.751C>G n.3588C>G n.2135C>G c.2646C>G (p.Ile882Met) n.212-3259C>G c.2694C>G (p.Ile898Met) c.2754C>G (p.Ile918Met) c.2304C>G (p.Ile768Met) c.606C>G (p.Ile202Met) c.2730+270C>G (n.2730+270C>G) c.2376C>G (p.Ile792Met) c.1458C>G (p.Ile486Met) n.3009C>G | gnomAD v4 |
13 | g.51949737G= | CA2091541445 | ATP7B | c.*623C= (n.*623C=) c.*1534C= (n.*1534C=) c.2244+270C= (n.2244+270C=) c.2790C= (p.Ile930=) c.2457C= (p.Ile819=) c.2538C= (p.Ile846=) c.2556C= (p.Ile852=) c.1800+270C= (n.1800+270C=) c.1500C= (p.Ile500=) c.751C= n.3588C= n.2135C= c.2646C= (p.Ile882=) n.212-3259C= c.2694C= (p.Ile898=) c.2754C= (p.Ile918=) c.2304C= (p.Ile768=) c.606C= (p.Ile202=) c.2730+270C= (n.2730+270C=) c.2376C= (p.Ile792=) c.1458C= (p.Ile486=) n.3009C= | |
13 | g.51949737G>T | CA6988909 | ATP7B | c.*623C>A (n.*623C>A) c.*1534C>A (n.*1534C>A) c.2244+270C>A (n.2244+270C>A) c.2790C>A (p.Ile930=) c.2457C>A (p.Ile819=) c.2538C>A (p.Ile846=) c.2556C>A (p.Ile852=) c.1800+270C>A (n.1800+270C>A) c.1500C>A (p.Ile500=) c.751C>A n.3588C>A n.2135C>A c.2646C>A (p.Ile882=) n.212-3259C>A c.2694C>A (p.Ile898=) c.2754C>A (p.Ile918=) c.2304C>A (p.Ile768=) c.606C>A (p.Ile202=) c.2730+270C>A (n.2730+270C>A) c.2376C>A (p.Ile792=) c.1458C>A (p.Ile486=) n.3009C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51949738A= | CA2091541450 | ATP7B | c.*622T= (n.*622T=) c.*1533T= (n.*1533T=) c.2244+269T= (n.2244+269T=) c.2789T= (p.Ile930=) c.2456T= (p.Ile819=) c.2537T= (p.Ile846=) c.2555T= (p.Ile852=) c.1800+269T= (n.1800+269T=) c.1499T= (p.Ile500=) c.750T= n.3587T= n.2134T= c.2645T= (p.Ile882=) n.212-3260T= c.2693T= (p.Ile898=) c.2753T= (p.Ile918=) c.2303T= (p.Ile768=) c.605T= (p.Ile202=) c.2730+269T= (n.2730+269T=) c.2375T= (p.Ile792=) c.1457T= (p.Ile486=) n.3008T= | |
13 | g.51949738A>C | CA388033680 | ATP7B | c.*622T>G (n.*622T>G) c.*1533T>G (n.*1533T>G) c.2244+269T>G (n.2244+269T>G) c.2789T>G (p.Ile930Ser) c.2456T>G (p.Ile819Ser) c.2537T>G (p.Ile846Ser) c.2555T>G (p.Ile852Ser) c.1800+269T>G (n.1800+269T>G) c.1499T>G (p.Ile500Ser) c.750T>G n.3587T>G n.2134T>G c.2645T>G (p.Ile882Ser) n.212-3260T>G c.2693T>G (p.Ile898Ser) c.2753T>G (p.Ile918Ser) c.2303T>G (p.Ile768Ser) c.605T>G (p.Ile202Ser) c.2730+269T>G (n.2730+269T>G) c.2375T>G (p.Ile792Ser) c.1457T>G (p.Ile486Ser) n.3008T>G | |
13 | g.51949738A>G | CA388033682 | ATP7B | c.*622T>C (n.*622T>C) c.*1533T>C (n.*1533T>C) c.2244+269T>C (n.2244+269T>C) c.2789T>C (p.Ile930Thr) c.2456T>C (p.Ile819Thr) c.2537T>C (p.Ile846Thr) c.2555T>C (p.Ile852Thr) c.1800+269T>C (n.1800+269T>C) c.1499T>C (p.Ile500Thr) c.750T>C n.3587T>C n.2134T>C c.2645T>C (p.Ile882Thr) n.212-3260T>C c.2693T>C (p.Ile898Thr) c.2753T>C (p.Ile918Thr) c.2303T>C (p.Ile768Thr) c.605T>C (p.Ile202Thr) c.2730+269T>C (n.2730+269T>C) c.2375T>C (p.Ile792Thr) c.1457T>C (p.Ile486Thr) n.3008T>C | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51949738A>T | CA388033684 | ATP7B | c.*622T>A (n.*622T>A) c.*1533T>A (n.*1533T>A) c.2244+269T>A (n.2244+269T>A) c.2789T>A (p.Ile930Asn) c.2456T>A (p.Ile819Asn) c.2537T>A (p.Ile846Asn) c.2555T>A (p.Ile852Asn) c.1800+269T>A (n.1800+269T>A) c.1499T>A (p.Ile500Asn) c.750T>A n.3587T>A n.2134T>A c.2645T>A (p.Ile882Asn) n.212-3260T>A c.2693T>A (p.Ile898Asn) c.2753T>A (p.Ile918Asn) c.2303T>A (p.Ile768Asn) c.605T>A (p.Ile202Asn) c.2730+269T>A (n.2730+269T>A) c.2375T>A (p.Ile792Asn) c.1457T>A (p.Ile486Asn) n.3008T>A | |
13 | g.51949739T>A | CA388033687 | ATP7B | c.*621A>T (n.*621A>T) c.*1532A>T (n.*1532A>T) c.2244+268A>T (n.2244+268A>T) c.2788A>T (p.Ile930Phe) c.2455A>T (p.Ile819Phe) c.2536A>T (p.Ile846Phe) c.2554A>T (p.Ile852Phe) c.1800+268A>T (n.1800+268A>T) c.1498A>T (p.Ile500Phe) c.749A>T n.3586A>T n.2133A>T c.2644A>T (p.Ile882Phe) n.212-3261A>T c.2692A>T (p.Ile898Phe) c.2752A>T (p.Ile918Phe) c.2302A>T (p.Ile768Phe) c.604A>T (p.Ile202Phe) c.2730+268A>T (n.2730+268A>T) c.2374A>T (p.Ile792Phe) c.1456A>T (p.Ile486Phe) n.3007A>T | |
13 | g.51949739T>C | CA388033690 | ATP7B | c.*621A>G (n.*621A>G) c.*1532A>G (n.*1532A>G) c.2244+268A>G (n.2244+268A>G) c.2788A>G (p.Ile930Val) c.2455A>G (p.Ile819Val) c.2536A>G (p.Ile846Val) c.2554A>G (p.Ile852Val) c.1800+268A>G (n.1800+268A>G) c.1498A>G (p.Ile500Val) c.749A>G n.3586A>G n.2133A>G c.2644A>G (p.Ile882Val) n.212-3261A>G c.2692A>G (p.Ile898Val) c.2752A>G (p.Ile918Val) c.2302A>G (p.Ile768Val) c.604A>G (p.Ile202Val) c.2730+268A>G (n.2730+268A>G) c.2374A>G (p.Ile792Val) c.1456A>G (p.Ile486Val) n.3007A>G | gnomAD v4 |
13 | g.51949739T>G | CA388033693 | ATP7B | c.*621A>C (n.*621A>C) c.*1532A>C (n.*1532A>C) c.2244+268A>C (n.2244+268A>C) c.2788A>C (p.Ile930Leu) c.2455A>C (p.Ile819Leu) c.2536A>C (p.Ile846Leu) c.2554A>C (p.Ile852Leu) c.1800+268A>C (n.1800+268A>C) c.1498A>C (p.Ile500Leu) c.749A>C n.3586A>C n.2133A>C c.2644A>C (p.Ile882Leu) n.212-3261A>C c.2692A>C (p.Ile898Leu) c.2752A>C (p.Ile918Leu) c.2302A>C (p.Ile768Leu) c.604A>C (p.Ile202Leu) c.2730+268A>C (n.2730+268A>C) c.2374A>C (p.Ile792Leu) c.1456A>C (p.Ile486Leu) n.3007A>C | gnomAD v4 |
13 | g.51949740G>A | CA250084863 | ATP7B | c.*620C>T (n.*620C>T) c.*1531C>T (n.*1531C>T) c.2244+267C>T (n.2244+267C>T) c.2787C>T (p.Ile929=) c.2454C>T (p.Ile818=) c.2535C>T (p.Ile845=) c.2553C>T (p.Ile851=) c.1800+267C>T (n.1800+267C>T) c.1497C>T (p.Ile499=) c.748C>T n.3585C>T n.2132C>T c.2643C>T (p.Ile881=) n.212-3262C>T c.2691C>T (p.Ile897=) c.2751C>T (p.Ile917=) c.2301C>T (p.Ile767=) c.603C>T (p.Ile201=) c.2730+267C>T (n.2730+267C>T) c.2373C>T (p.Ile791=) c.1455C>T (p.Ile485=) n.3006C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51949740G>C | CA6988910 | ATP7B | c.*620C>G (n.*620C>G) c.*1531C>G (n.*1531C>G) c.2244+267C>G (n.2244+267C>G) c.2787C>G (p.Ile929Met) c.2454C>G (p.Ile818Met) c.2535C>G (p.Ile845Met) c.2553C>G (p.Ile851Met) c.1800+267C>G (n.1800+267C>G) c.1497C>G (p.Ile499Met) c.748C>G n.3585C>G n.2132C>G c.2643C>G (p.Ile881Met) n.212-3262C>G c.2691C>G (p.Ile897Met) c.2751C>G (p.Ile917Met) c.2301C>G (p.Ile767Met) c.603C>G (p.Ile201Met) c.2730+267C>G (n.2730+267C>G) c.2373C>G (p.Ile791Met) c.1455C>G (p.Ile485Met) n.3006C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51949740G= | CA2091541454 | ATP7B | c.*620C= (n.*620C=) c.*1531C= (n.*1531C=) c.2244+267C= (n.2244+267C=) c.2787C= (p.Ile929=) c.2454C= (p.Ile818=) c.2535C= (p.Ile845=) c.2553C= (p.Ile851=) c.1800+267C= (n.1800+267C=) c.1497C= (p.Ile499=) c.748C= n.3585C= n.2132C= c.2643C= (p.Ile881=) n.212-3262C= c.2691C= (p.Ile897=) c.2751C= (p.Ile917=) c.2301C= (p.Ile767=) c.603C= (p.Ile201=) c.2730+267C= (n.2730+267C=) c.2373C= (p.Ile791=) c.1455C= (p.Ile485=) n.3006C= | |
13 | g.51949740G>T | CA484024507 | ATP7B | c.*620C>A (n.*620C>A) c.*1531C>A (n.*1531C>A) c.2244+267C>A (n.2244+267C>A) c.2787C>A (p.Ile929=) c.2454C>A (p.Ile818=) c.2535C>A (p.Ile845=) c.2553C>A (p.Ile851=) c.1800+267C>A (n.1800+267C>A) c.1497C>A (p.Ile499=) c.748C>A n.3585C>A n.2132C>A c.2643C>A (p.Ile881=) n.212-3262C>A c.2691C>A (p.Ile897=) c.2751C>A (p.Ile917=) c.2301C>A (p.Ile767=) c.603C>A (p.Ile201=) c.2730+267C>A (n.2730+267C>A) c.2373C>A (p.Ile791=) c.1455C>A (p.Ile485=) n.3006C>A | ClinVar |
13 | g.51949741A>C | CA388033698 | ATP7B | c.*619T>G (n.*619T>G) c.*1530T>G (n.*1530T>G) c.2244+266T>G (n.2244+266T>G) c.2786T>G (p.Ile929Ser) c.2453T>G (p.Ile818Ser) c.2534T>G (p.Ile845Ser) c.2552T>G (p.Ile851Ser) c.1800+266T>G (n.1800+266T>G) c.1496T>G (p.Ile499Ser) c.747T>G n.3584T>G n.2131T>G c.2642T>G (p.Ile881Ser) n.212-3263T>G c.2690T>G (p.Ile897Ser) c.2750T>G (p.Ile917Ser) c.2300T>G (p.Ile767Ser) c.602T>G (p.Ile201Ser) c.2730+266T>G (n.2730+266T>G) c.2372T>G (p.Ile791Ser) c.1454T>G (p.Ile485Ser) n.3005T>G | |
13 | g.51949741A>G | CA388033701 | ATP7B | c.*619T>C (n.*619T>C) c.*1530T>C (n.*1530T>C) c.2244+266T>C (n.2244+266T>C) c.2786T>C (p.Ile929Thr) c.2453T>C (p.Ile818Thr) c.2534T>C (p.Ile845Thr) c.2552T>C (p.Ile851Thr) c.1800+266T>C (n.1800+266T>C) c.1496T>C (p.Ile499Thr) c.747T>C n.3584T>C n.2131T>C c.2642T>C (p.Ile881Thr) n.212-3263T>C c.2690T>C (p.Ile897Thr) c.2750T>C (p.Ile917Thr) c.2300T>C (p.Ile767Thr) c.602T>C (p.Ile201Thr) c.2730+266T>C (n.2730+266T>C) c.2372T>C (p.Ile791Thr) c.1454T>C (p.Ile485Thr) n.3005T>C | |
13 | g.51949741A>T | CA388033703 | ATP7B | c.*619T>A (n.*619T>A) c.*1530T>A (n.*1530T>A) c.2244+266T>A (n.2244+266T>A) c.2786T>A (p.Ile929Asn) c.2453T>A (p.Ile818Asn) c.2534T>A (p.Ile845Asn) c.2552T>A (p.Ile851Asn) c.1800+266T>A (n.1800+266T>A) c.1496T>A (p.Ile499Asn) c.747T>A n.3584T>A n.2131T>A c.2642T>A (p.Ile881Asn) n.212-3263T>A c.2690T>A (p.Ile897Asn) c.2750T>A (p.Ile917Asn) c.2300T>A (p.Ile767Asn) c.602T>A (p.Ile201Asn) c.2730+266T>A (n.2730+266T>A) c.2372T>A (p.Ile791Asn) c.1454T>A (p.Ile485Asn) n.3005T>A | |
13 | g.51949742T>A | CA388033706 | ATP7B | c.*618A>T (n.*618A>T) c.*1529A>T (n.*1529A>T) c.2244+265A>T (n.2244+265A>T) c.2785A>T (p.Ile929Phe) c.2452A>T (p.Ile818Phe) c.2533A>T (p.Ile845Phe) c.2551A>T (p.Ile851Phe) c.1800+265A>T (n.1800+265A>T) c.1495A>T (p.Ile499Phe) c.746A>T n.3583A>T n.2130A>T c.2641A>T (p.Ile881Phe) n.212-3264A>T c.2689A>T (p.Ile897Phe) c.2749A>T (p.Ile917Phe) c.2299A>T (p.Ile767Phe) c.601A>T (p.Ile201Phe) c.2730+265A>T (n.2730+265A>T) c.2371A>T (p.Ile791Phe) c.1453A>T (p.Ile485Phe) n.3004A>T | |
13 | g.51949742T>C | CA200886 | ATP7B | c.*618A>G (n.*618A>G) c.*1529A>G (n.*1529A>G) c.2244+265A>G (n.2244+265A>G) c.2785A>G (p.Ile929Val) c.2452A>G (p.Ile818Val) c.2533A>G (p.Ile845Val) c.2551A>G (p.Ile851Val) c.1800+265A>G (n.1800+265A>G) c.1495A>G (p.Ile499Val) c.746A>G n.3583A>G n.2130A>G c.2641A>G (p.Ile881Val) n.212-3264A>G c.2689A>G (p.Ile897Val) c.2749A>G (p.Ile917Val) c.2299A>G (p.Ile767Val) c.601A>G (p.Ile201Val) c.2730+265A>G (n.2730+265A>G) c.2371A>G (p.Ile791Val) c.1453A>G (p.Ile485Val) n.3004A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51949742T>G | CA388033709 | ATP7B | c.*618A>C (n.*618A>C) c.*1529A>C (n.*1529A>C) c.2244+265A>C (n.2244+265A>C) c.2785A>C (p.Ile929Leu) c.2452A>C (p.Ile818Leu) c.2533A>C (p.Ile845Leu) c.2551A>C (p.Ile851Leu) c.1800+265A>C (n.1800+265A>C) c.1495A>C (p.Ile499Leu) c.746A>C n.3583A>C n.2130A>C c.2641A>C (p.Ile881Leu) n.212-3264A>C c.2689A>C (p.Ile897Leu) c.2749A>C (p.Ile917Leu) c.2299A>C (p.Ile767Leu) c.601A>C (p.Ile201Leu) c.2730+265A>C (n.2730+265A>C) c.2371A>C (p.Ile791Leu) c.1453A>C (p.Ile485Leu) n.3004A>C | |
13 | g.51949742T= | CA2091541462 | ATP7B | c.*618A= (n.*618A=) c.*1529A= (n.*1529A=) c.2244+265A= (n.2244+265A=) c.2785A= (p.Ile929=) c.2452A= (p.Ile818=) c.2533A= (p.Ile845=) c.2551A= (p.Ile851=) c.1800+265A= (n.1800+265A=) c.1495A= (p.Ile499=) c.746A= n.3583A= n.2130A= c.2641A= (p.Ile881=) n.212-3264A= c.2689A= (p.Ile897=) c.2749A= (p.Ile917=) c.2299A= (p.Ile767=) c.601A= (p.Ile201=) c.2730+265A= (n.2730+265A=) c.2371A= (p.Ile791=) c.1453A= (p.Ile485=) n.3004A= | |
13 | g.51949743G>A | CA484024508 | ATP7B | c.*617C>T (n.*617C>T) c.*1528C>T (n.*1528C>T) c.2244+264C>T (n.2244+264C>T) c.2784C>T (p.Ile928=) c.2451C>T (p.Ile817=) c.2532C>T (p.Ile844=) c.2550C>T (p.Ile850=) c.1800+264C>T (n.1800+264C>T) c.1494C>T (p.Ile498=) c.745C>T n.3582C>T n.2129C>T c.2640C>T (p.Ile880=) n.212-3265C>T c.2688C>T (p.Ile896=) c.2748C>T (p.Ile916=) c.2298C>T (p.Ile766=) c.600C>T (p.Ile200=) c.2730+264C>T (n.2730+264C>T) c.2370C>T (p.Ile790=) c.1452C>T (p.Ile484=) n.3003C>T | |
13 | g.51949743G>C | CA388033711 | ATP7B | c.*617C>G (n.*617C>G) c.*1528C>G (n.*1528C>G) c.2244+264C>G (n.2244+264C>G) c.2784C>G (p.Ile928Met) c.2451C>G (p.Ile817Met) c.2532C>G (p.Ile844Met) c.2550C>G (p.Ile850Met) c.1800+264C>G (n.1800+264C>G) c.1494C>G (p.Ile498Met) c.745C>G n.3582C>G n.2129C>G c.2640C>G (p.Ile880Met) n.212-3265C>G c.2688C>G (p.Ile896Met) c.2748C>G (p.Ile916Met) c.2298C>G (p.Ile766Met) c.600C>G (p.Ile200Met) c.2730+264C>G (n.2730+264C>G) c.2370C>G (p.Ile790Met) c.1452C>G (p.Ile484Met) n.3003C>G | |
13 | g.51949743G>T | CA484024509 | ATP7B | c.*617C>A (n.*617C>A) c.*1528C>A (n.*1528C>A) c.2244+264C>A (n.2244+264C>A) c.2784C>A (p.Ile928=) c.2451C>A (p.Ile817=) c.2532C>A (p.Ile844=) c.2550C>A (p.Ile850=) c.1800+264C>A (n.1800+264C>A) c.1494C>A (p.Ile498=) c.745C>A n.3582C>A n.2129C>A c.2640C>A (p.Ile880=) n.212-3265C>A c.2688C>A (p.Ile896=) c.2748C>A (p.Ile916=) c.2298C>A (p.Ile766=) c.600C>A (p.Ile200=) c.2730+264C>A (n.2730+264C>A) c.2370C>A (p.Ile790=) c.1452C>A (p.Ile484=) n.3003C>A | |
13 | g.51949744A>C | CA388033712 | ATP7B | c.*616T>G (n.*616T>G) c.*1527T>G (n.*1527T>G) c.2244+263T>G (n.2244+263T>G) c.2783T>G (p.Ile928Ser) c.2450T>G (p.Ile817Ser) c.2531T>G (p.Ile844Ser) c.2549T>G (p.Ile850Ser) c.1800+263T>G (n.1800+263T>G) c.1493T>G (p.Ile498Ser) c.744T>G n.3581T>G n.2128T>G c.2639T>G (p.Ile880Ser) n.212-3266T>G c.2687T>G (p.Ile896Ser) c.2747T>G (p.Ile916Ser) c.2297T>G (p.Ile766Ser) c.599T>G (p.Ile200Ser) c.2730+263T>G (n.2730+263T>G) c.2369T>G (p.Ile790Ser) c.1451T>G (p.Ile484Ser) n.3002T>G | |
13 | g.51949744A>G | CA388033713 | ATP7B | c.*616T>C (n.*616T>C) c.*1527T>C (n.*1527T>C) c.2244+263T>C (n.2244+263T>C) c.2783T>C (p.Ile928Thr) c.2450T>C (p.Ile817Thr) c.2531T>C (p.Ile844Thr) c.2549T>C (p.Ile850Thr) c.1800+263T>C (n.1800+263T>C) c.1493T>C (p.Ile498Thr) c.744T>C n.3581T>C n.2128T>C c.2639T>C (p.Ile880Thr) n.212-3266T>C c.2687T>C (p.Ile896Thr) c.2747T>C (p.Ile916Thr) c.2297T>C (p.Ile766Thr) c.599T>C (p.Ile200Thr) c.2730+263T>C (n.2730+263T>C) c.2369T>C (p.Ile790Thr) c.1451T>C (p.Ile484Thr) n.3002T>C | |
13 | g.51949744A>T | CA388033715 | ATP7B | c.*616T>A (n.*616T>A) c.*1527T>A (n.*1527T>A) c.2244+263T>A (n.2244+263T>A) c.2783T>A (p.Ile928Asn) c.2450T>A (p.Ile817Asn) c.2531T>A (p.Ile844Asn) c.2549T>A (p.Ile850Asn) c.1800+263T>A (n.1800+263T>A) c.1493T>A (p.Ile498Asn) c.744T>A n.3581T>A n.2128T>A c.2639T>A (p.Ile880Asn) n.212-3266T>A c.2687T>A (p.Ile896Asn) c.2747T>A (p.Ile916Asn) c.2297T>A (p.Ile766Asn) c.599T>A (p.Ile200Asn) c.2730+263T>A (n.2730+263T>A) c.2369T>A (p.Ile790Asn) c.1451T>A (p.Ile484Asn) n.3002T>A | |
13 | g.51949745T>A | CA388033716 | ATP7B | c.*615A>T (n.*615A>T) c.*1526A>T (n.*1526A>T) c.2244+262A>T (n.2244+262A>T) c.2782A>T (p.Ile928Phe) c.2449A>T (p.Ile817Phe) c.2530A>T (p.Ile844Phe) c.2548A>T (p.Ile850Phe) c.1800+262A>T (n.1800+262A>T) c.1492A>T (p.Ile498Phe) c.743A>T n.3580A>T n.2127A>T c.2638A>T (p.Ile880Phe) n.212-3267A>T c.2686A>T (p.Ile896Phe) c.2746A>T (p.Ile916Phe) c.2296A>T (p.Ile766Phe) c.598A>T (p.Ile200Phe) c.2730+262A>T (n.2730+262A>T) c.2368A>T (p.Ile790Phe) c.1450A>T (p.Ile484Phe) n.3001A>T | |
13 | g.51949745T>C | CA388033719 | ATP7B | c.*615A>G (n.*615A>G) c.*1526A>G (n.*1526A>G) c.2244+262A>G (n.2244+262A>G) c.2782A>G (p.Ile928Val) c.2449A>G (p.Ile817Val) c.2530A>G (p.Ile844Val) c.2548A>G (p.Ile850Val) c.1800+262A>G (n.1800+262A>G) c.1492A>G (p.Ile498Val) c.743A>G n.3580A>G n.2127A>G c.2638A>G (p.Ile880Val) n.212-3267A>G c.2686A>G (p.Ile896Val) c.2746A>G (p.Ile916Val) c.2296A>G (p.Ile766Val) c.598A>G (p.Ile200Val) c.2730+262A>G (n.2730+262A>G) c.2368A>G (p.Ile790Val) c.1450A>G (p.Ile484Val) n.3001A>G | gnomAD v4 |
13 | g.51949745T>G | CA388033720 | ATP7B | c.*615A>C (n.*615A>C) c.*1526A>C (n.*1526A>C) c.2244+262A>C (n.2244+262A>C) c.2782A>C (p.Ile928Leu) c.2449A>C (p.Ile817Leu) c.2530A>C (p.Ile844Leu) c.2548A>C (p.Ile850Leu) c.1800+262A>C (n.1800+262A>C) c.1492A>C (p.Ile498Leu) c.743A>C n.3580A>C n.2127A>C c.2638A>C (p.Ile880Leu) n.212-3267A>C c.2686A>C (p.Ile896Leu) c.2746A>C (p.Ile916Leu) c.2296A>C (p.Ile766Leu) c.598A>C (p.Ile200Leu) c.2730+262A>C (n.2730+262A>C) c.2368A>C (p.Ile790Leu) c.1450A>C (p.Ile484Leu) n.3001A>C | |
13 | g.51949745_51949746delinsTA | CA2091541466 | ATP7B | c.*614_*615delinsTA (n.*614_*615delinsTA) c.*1525_*1526delinsTA (n.*1525_*1526delinsTA) c.2244+261_2244+262delinsTA (n.2244+261_2244+262delinsTA) c.2781_2782delinsTA (p.Phe927=) c.2448_2449delinsTA (p.Phe816=) c.2529_2530delinsTA (p.Phe843=) c.2547_2548delinsTA (p.Phe849=) c.1800+261_1800+262delinsTA (n.1800+261_1800+262delinsTA) c.1491_1492delinsTA (p.Phe497=) c.742_743delinsTA n.3579_3580delinsTA n.2126_2127delinsTA c.2637_2638delinsTA (p.Phe879=) n.212-3268_212-3267delinsTA c.2685_2686delinsTA (p.Phe895=) c.2745_2746delinsTA (p.Phe915=) c.2295_2296delinsTA (p.Phe765=) c.597_598delinsTA (p.Phe199=) c.2730+261_2730+262delinsTA (n.2730+261_2730+262delinsTA) c.2367_2368delinsTA (p.Phe789=) c.1449_1450delinsTA (p.Phe483=) n.3000_3001delinsTA | |
13 | g.51949746A>C | CA388033722 | ATP7B | c.*614T>G (n.*614T>G) c.*1525T>G (n.*1525T>G) c.2244+261T>G (n.2244+261T>G) c.2781T>G (p.Phe927Leu) c.2448T>G (p.Phe816Leu) c.2529T>G (p.Phe843Leu) c.2547T>G (p.Phe849Leu) c.1800+261T>G (n.1800+261T>G) c.1491T>G (p.Phe497Leu) c.742T>G n.3579T>G n.2126T>G c.2637T>G (p.Phe879Leu) n.212-3268T>G c.2685T>G (p.Phe895Leu) c.2745T>G (p.Phe915Leu) c.2295T>G (p.Phe765Leu) c.597T>G (p.Phe199Leu) c.2730+261T>G (n.2730+261T>G) c.2367T>G (p.Phe789Leu) c.1449T>G (p.Phe483Leu) n.3000T>G | |
13 | g.51949746A>G | CA484024510 | ATP7B | c.*614T>C (n.*614T>C) c.*1525T>C (n.*1525T>C) c.2244+261T>C (n.2244+261T>C) c.2781T>C (p.Phe927=) c.2448T>C (p.Phe816=) c.2529T>C (p.Phe843=) c.2547T>C (p.Phe849=) c.1800+261T>C (n.1800+261T>C) c.1491T>C (p.Phe497=) c.742T>C n.3579T>C n.2126T>C c.2637T>C (p.Phe879=) n.212-3268T>C c.2685T>C (p.Phe895=) c.2745T>C (p.Phe915=) c.2295T>C (p.Phe765=) c.597T>C (p.Phe199=) c.2730+261T>C (n.2730+261T>C) c.2367T>C (p.Phe789=) c.1449T>C (p.Phe483=) n.3000T>C | |
13 | g.51949746A>T | CA388033724 | ATP7B | c.*614T>A (n.*614T>A) c.*1525T>A (n.*1525T>A) c.2244+261T>A (n.2244+261T>A) c.2781T>A (p.Phe927Leu) c.2448T>A (p.Phe816Leu) c.2529T>A (p.Phe843Leu) c.2547T>A (p.Phe849Leu) c.1800+261T>A (n.1800+261T>A) c.1491T>A (p.Phe497Leu) c.742T>A n.3579T>A n.2126T>A c.2637T>A (p.Phe879Leu) n.212-3268T>A c.2685T>A (p.Phe895Leu) c.2745T>A (p.Phe915Leu) c.2295T>A (p.Phe765Leu) c.597T>A (p.Phe199Leu) c.2730+261T>A (n.2730+261T>A) c.2367T>A (p.Phe789Leu) c.1449T>A (p.Phe483Leu) n.3000T>A | |
13 | g.51949748del | CA916083357 | ATP7B | c.*614del (n.*614del) c.*1525del (n.*1525del) c.2244+261del (n.2244+261del) c.2781del (p.Phe927LeufsTer8) c.2448del (p.Phe816LeufsTer8) c.2529del (p.Phe843LeufsTer8) c.2547del (p.Phe849LeufsTer8) c.1800+261del (n.1800+261del) c.1491del (p.Phe497LeufsTer8) c.742del n.3579del n.2126del c.2637del (p.Phe879LeufsTer8) n.212-3268del c.2685del (p.Phe895LeufsTer8) c.2745del (p.Phe915LeufsTer8) c.2295del (p.Phe765LeufsTer8) c.597del (p.Phe199LeufsTer8) c.2730+261del (n.2730+261del) c.2367del (p.Phe789LeufsTer8) c.1449del (p.Phe483LeufsTer8) n.3000del | ClinVar dbSNP |
13 | g.51949747A>C | CA388033726 | ATP7B | c.*613T>G (n.*613T>G) c.*1524T>G (n.*1524T>G) c.2244+260T>G (n.2244+260T>G) c.2780T>G (p.Phe927Cys) c.2447T>G (p.Phe816Cys) c.2528T>G (p.Phe843Cys) c.2546T>G (p.Phe849Cys) c.1800+260T>G (n.1800+260T>G) c.1490T>G (p.Phe497Cys) c.741T>G n.3578T>G n.2125T>G c.2636T>G (p.Phe879Cys) n.212-3269T>G c.2684T>G (p.Phe895Cys) c.2744T>G (p.Phe915Cys) c.2294T>G (p.Phe765Cys) c.596T>G (p.Phe199Cys) c.2730+260T>G (n.2730+260T>G) c.2366T>G (p.Phe789Cys) c.1448T>G (p.Phe483Cys) n.2999T>G | |
13 | g.51949747A>G | CA388033727 | ATP7B | c.*613T>C (n.*613T>C) c.*1524T>C (n.*1524T>C) c.2244+260T>C (n.2244+260T>C) c.2780T>C (p.Phe927Ser) c.2447T>C (p.Phe816Ser) c.2528T>C (p.Phe843Ser) c.2546T>C (p.Phe849Ser) c.1800+260T>C (n.1800+260T>C) c.1490T>C (p.Phe497Ser) c.741T>C n.3578T>C n.2125T>C c.2636T>C (p.Phe879Ser) n.212-3269T>C c.2684T>C (p.Phe895Ser) c.2744T>C (p.Phe915Ser) c.2294T>C (p.Phe765Ser) c.596T>C (p.Phe199Ser) c.2730+260T>C (n.2730+260T>C) c.2366T>C (p.Phe789Ser) c.1448T>C (p.Phe483Ser) n.2999T>C | |
13 | g.51949747A>T | CA388033730 | ATP7B | c.*613T>A (n.*613T>A) c.*1524T>A (n.*1524T>A) c.2244+260T>A (n.2244+260T>A) c.2780T>A (p.Phe927Tyr) c.2447T>A (p.Phe816Tyr) c.2528T>A (p.Phe843Tyr) c.2546T>A (p.Phe849Tyr) c.1800+260T>A (n.1800+260T>A) c.1490T>A (p.Phe497Tyr) c.741T>A n.3578T>A n.2125T>A c.2636T>A (p.Phe879Tyr) n.212-3269T>A c.2684T>A (p.Phe895Tyr) c.2744T>A (p.Phe915Tyr) c.2294T>A (p.Phe765Tyr) c.596T>A (p.Phe199Tyr) c.2730+260T>A (n.2730+260T>A) c.2366T>A (p.Phe789Tyr) c.1448T>A (p.Phe483Tyr) n.2999T>A | |
13 | g.51949748A>C | CA388033732 | ATP7B | c.*612T>G (n.*612T>G) c.*1523T>G (n.*1523T>G) c.2244+259T>G (n.2244+259T>G) c.2779T>G (p.Phe927Val) c.2446T>G (p.Phe816Val) c.2527T>G (p.Phe843Val) c.2545T>G (p.Phe849Val) c.1800+259T>G (n.1800+259T>G) c.1489T>G (p.Phe497Val) c.740T>G n.3577T>G n.2124T>G c.2635T>G (p.Phe879Val) n.212-3270T>G c.2683T>G (p.Phe895Val) c.2743T>G (p.Phe915Val) c.2293T>G (p.Phe765Val) c.595T>G (p.Phe199Val) c.2730+259T>G (n.2730+259T>G) c.2365T>G (p.Phe789Val) c.1447T>G (p.Phe483Val) n.2998T>G | |
13 | g.51949748A>G | CA388033733 | ATP7B | c.*612T>C (n.*612T>C) c.*1523T>C (n.*1523T>C) c.2244+259T>C (n.2244+259T>C) c.2779T>C (p.Phe927Leu) c.2446T>C (p.Phe816Leu) c.2527T>C (p.Phe843Leu) c.2545T>C (p.Phe849Leu) c.1800+259T>C (n.1800+259T>C) c.1489T>C (p.Phe497Leu) c.740T>C n.3577T>C n.2124T>C c.2635T>C (p.Phe879Leu) n.212-3270T>C c.2683T>C (p.Phe895Leu) c.2743T>C (p.Phe915Leu) c.2293T>C (p.Phe765Leu) c.595T>C (p.Phe199Leu) c.2730+259T>C (n.2730+259T>C) c.2365T>C (p.Phe789Leu) c.1447T>C (p.Phe483Leu) n.2998T>C | |
13 | g.51949748A>T | CA388033735 | ATP7B | c.*612T>A (n.*612T>A) c.*1523T>A (n.*1523T>A) c.2244+259T>A (n.2244+259T>A) c.2779T>A (p.Phe927Ile) c.2446T>A (p.Phe816Ile) c.2527T>A (p.Phe843Ile) c.2545T>A (p.Phe849Ile) c.1800+259T>A (n.1800+259T>A) c.1489T>A (p.Phe497Ile) c.740T>A n.3577T>A n.2124T>A c.2635T>A (p.Phe879Ile) n.212-3270T>A c.2683T>A (p.Phe895Ile) c.2743T>A (p.Phe915Ile) c.2293T>A (p.Phe765Ile) c.595T>A (p.Phe199Ile) c.2730+259T>A (n.2730+259T>A) c.2365T>A (p.Phe789Ile) c.1447T>A (p.Phe483Ile) n.2998T>A | |
13 | g.51949749T>A | CA484024511 | ATP7B | c.*611A>T (n.*611A>T) c.*1522A>T (n.*1522A>T) c.2244+258A>T (n.2244+258A>T) c.2778A>T (p.Pro926=) c.2445A>T (p.Pro815=) c.2526A>T (p.Pro842=) c.2544A>T (p.Pro848=) c.1800+258A>T (n.1800+258A>T) c.1488A>T (p.Pro496=) c.739A>T n.3576A>T n.2123A>T c.2634A>T (p.Pro878=) n.212-3271A>T c.2682A>T (p.Pro894=) c.2742A>T (p.Pro914=) c.2292A>T (p.Pro764=) c.594A>T (p.Pro198=) c.2730+258A>T (n.2730+258A>T) c.2364A>T (p.Pro788=) c.1446A>T (p.Pro482=) n.2997A>T | |
13 | g.51949749T>C | CA484024512 | ATP7B | c.*611A>G (n.*611A>G) c.*1522A>G (n.*1522A>G) c.2244+258A>G (n.2244+258A>G) c.2778A>G (p.Pro926=) c.2445A>G (p.Pro815=) c.2526A>G (p.Pro842=) c.2544A>G (p.Pro848=) c.1800+258A>G (n.1800+258A>G) c.1488A>G (p.Pro496=) c.739A>G n.3576A>G n.2123A>G c.2634A>G (p.Pro878=) n.212-3271A>G c.2682A>G (p.Pro894=) c.2742A>G (p.Pro914=) c.2292A>G (p.Pro764=) c.594A>G (p.Pro198=) c.2730+258A>G (n.2730+258A>G) c.2364A>G (p.Pro788=) c.1446A>G (p.Pro482=) n.2997A>G | ClinVar |
13 | g.51949749T>G | CA484024513 | ATP7B | c.*611A>C (n.*611A>C) c.*1522A>C (n.*1522A>C) c.2244+258A>C (n.2244+258A>C) c.2778A>C (p.Pro926=) c.2445A>C (p.Pro815=) c.2526A>C (p.Pro842=) c.2544A>C (p.Pro848=) c.1800+258A>C (n.1800+258A>C) c.1488A>C (p.Pro496=) c.739A>C n.3576A>C n.2123A>C c.2634A>C (p.Pro878=) n.212-3271A>C c.2682A>C (p.Pro894=) c.2742A>C (p.Pro914=) c.2292A>C (p.Pro764=) c.594A>C (p.Pro198=) c.2730+258A>C (n.2730+258A>C) c.2364A>C (p.Pro788=) c.1446A>C (p.Pro482=) n.2997A>C | |
13 | g.51949750G>A | CA388033741 | ATP7B | c.*610C>T (n.*610C>T) c.*1521C>T (n.*1521C>T) c.2244+257C>T (n.2244+257C>T) c.2777C>T (p.Pro926Leu) c.2444C>T (p.Pro815Leu) c.2525C>T (p.Pro842Leu) c.2543C>T (p.Pro848Leu) c.1800+257C>T (n.1800+257C>T) c.1487C>T (p.Pro496Leu) c.738C>T n.3575C>T n.2122C>T c.2633C>T (p.Pro878Leu) n.212-3272C>T c.2681C>T (p.Pro894Leu) c.2741C>T (p.Pro914Leu) c.2291C>T (p.Pro764Leu) c.593C>T (p.Pro198Leu) c.2730+257C>T (n.2730+257C>T) c.2363C>T (p.Pro788Leu) c.1445C>T (p.Pro482Leu) n.2996C>T | |
13 | g.51949750G>C | CA6988911 | ATP7B | c.*610C>G (n.*610C>G) c.*1521C>G (n.*1521C>G) c.2244+257C>G (n.2244+257C>G) c.2777C>G (p.Pro926Arg) c.2444C>G (p.Pro815Arg) c.2525C>G (p.Pro842Arg) c.2543C>G (p.Pro848Arg) c.1800+257C>G (n.1800+257C>G) c.1487C>G (p.Pro496Arg) c.738C>G n.3575C>G n.2122C>G c.2633C>G (p.Pro878Arg) n.212-3272C>G c.2681C>G (p.Pro894Arg) c.2741C>G (p.Pro914Arg) c.2291C>G (p.Pro764Arg) c.593C>G (p.Pro198Arg) c.2730+257C>G (n.2730+257C>G) c.2363C>G (p.Pro788Arg) c.1445C>G (p.Pro482Arg) n.2996C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51949750G= | CA2091541475 | ATP7B | c.*610C= (n.*610C=) c.*1521C= (n.*1521C=) c.2244+257C= (n.2244+257C=) c.2777C= (p.Pro926=) c.2444C= (p.Pro815=) c.2525C= (p.Pro842=) c.2543C= (p.Pro848=) c.1800+257C= (n.1800+257C=) c.1487C= (p.Pro496=) c.738C= n.3575C= n.2122C= c.2633C= (p.Pro878=) n.212-3272C= c.2681C= (p.Pro894=) c.2741C= (p.Pro914=) c.2291C= (p.Pro764=) c.593C= (p.Pro198=) c.2730+257C= (n.2730+257C=) c.2363C= (p.Pro788=) c.1445C= (p.Pro482=) n.2996C= | |
13 | g.51949750G>T | CA388033740 | ATP7B | c.*610C>A (n.*610C>A) c.*1521C>A (n.*1521C>A) c.2244+257C>A (n.2244+257C>A) c.2777C>A (p.Pro926Gln) c.2444C>A (p.Pro815Gln) c.2525C>A (p.Pro842Gln) c.2543C>A (p.Pro848Gln) c.1800+257C>A (n.1800+257C>A) c.1487C>A (p.Pro496Gln) c.738C>A n.3575C>A n.2122C>A c.2633C>A (p.Pro878Gln) n.212-3272C>A c.2681C>A (p.Pro894Gln) c.2741C>A (p.Pro914Gln) c.2291C>A (p.Pro764Gln) c.593C>A (p.Pro198Gln) c.2730+257C>A (n.2730+257C>A) c.2363C>A (p.Pro788Gln) c.1445C>A (p.Pro482Gln) n.2996C>A | |
13 | g.51949751G>A | CA250084871 | ATP7B | c.*609C>T (n.*609C>T) c.*1520C>T (n.*1520C>T) c.2244+256C>T (n.2244+256C>T) c.2776C>T (p.Pro926Ser) c.2443C>T (p.Pro815Ser) c.2524C>T (p.Pro842Ser) c.2542C>T (p.Pro848Ser) c.1800+256C>T (n.1800+256C>T) c.1486C>T (p.Pro496Ser) c.737C>T n.3574C>T n.2121C>T c.2632C>T (p.Pro878Ser) n.212-3273C>T c.2680C>T (p.Pro894Ser) c.2740C>T (p.Pro914Ser) c.2290C>T (p.Pro764Ser) c.592C>T (p.Pro198Ser) c.2730+256C>T (n.2730+256C>T) c.2362C>T (p.Pro788Ser) c.1444C>T (p.Pro482Ser) n.2995C>T | dbSNP |
13 | g.51949751G>C | CA250084876 | ATP7B | c.*609C>G (n.*609C>G) c.*1520C>G (n.*1520C>G) c.2244+256C>G (n.2244+256C>G) c.2776C>G (p.Pro926Ala) c.2443C>G (p.Pro815Ala) c.2524C>G (p.Pro842Ala) c.2542C>G (p.Pro848Ala) c.1800+256C>G (n.1800+256C>G) c.1486C>G (p.Pro496Ala) c.737C>G n.3574C>G n.2121C>G c.2632C>G (p.Pro878Ala) n.212-3273C>G c.2680C>G (p.Pro894Ala) c.2740C>G (p.Pro914Ala) c.2290C>G (p.Pro764Ala) c.592C>G (p.Pro198Ala) c.2730+256C>G (n.2730+256C>G) c.2362C>G (p.Pro788Ala) c.1444C>G (p.Pro482Ala) n.2995C>G | dbSNP gnomAD v4 |
13 | g.51949751G= | CA2091541478 | ATP7B | c.*609C= (n.*609C=) c.*1520C= (n.*1520C=) c.2244+256C= (n.2244+256C=) c.2776C= (p.Pro926=) c.2443C= (p.Pro815=) c.2524C= (p.Pro842=) c.2542C= (p.Pro848=) c.1800+256C= (n.1800+256C=) c.1486C= (p.Pro496=) c.737C= n.3574C= n.2121C= c.2632C= (p.Pro878=) n.212-3273C= c.2680C= (p.Pro894=) c.2740C= (p.Pro914=) c.2290C= (p.Pro764=) c.592C= (p.Pro198=) c.2730+256C= (n.2730+256C=) c.2362C= (p.Pro788=) c.1444C= (p.Pro482=) n.2995C= | |
13 | g.51949751G>T | CA388033747 | ATP7B | c.*609C>A (n.*609C>A) c.*1520C>A (n.*1520C>A) c.2244+256C>A (n.2244+256C>A) c.2776C>A (p.Pro926Thr) c.2443C>A (p.Pro815Thr) c.2524C>A (p.Pro842Thr) c.2542C>A (p.Pro848Thr) c.1800+256C>A (n.1800+256C>A) c.1486C>A (p.Pro496Thr) c.737C>A n.3574C>A n.2121C>A c.2632C>A (p.Pro878Thr) n.212-3273C>A c.2680C>A (p.Pro894Thr) c.2740C>A (p.Pro914Thr) c.2290C>A (p.Pro764Thr) c.592C>A (p.Pro198Thr) c.2730+256C>A (n.2730+256C>A) c.2362C>A (p.Pro788Thr) c.1444C>A (p.Pro482Thr) n.2995C>A | |
13 | g.51949752G>A | CA484024516 | ATP7B | c.*608C>T (n.*608C>T) c.*1519C>T (n.*1519C>T) c.2244+255C>T (n.2244+255C>T) c.2775C>T (p.Val925=) c.2442C>T (p.Val814=) c.2523C>T (p.Val841=) c.2541C>T (p.Val847=) c.1800+255C>T (n.1800+255C>T) c.1485C>T (p.Val495=) c.736C>T n.3573C>T n.2120C>T c.2631C>T (p.Val877=) n.212-3274C>T c.2679C>T (p.Val893=) c.2739C>T (p.Val913=) c.2289C>T (p.Val763=) c.591C>T (p.Val197=) c.2730+255C>T (n.2730+255C>T) c.2361C>T (p.Val787=) c.1443C>T (p.Val481=) n.2994C>T | |
13 | g.51949752G>C | CA484024515 | ATP7B | c.*608C>G (n.*608C>G) c.*1519C>G (n.*1519C>G) c.2244+255C>G (n.2244+255C>G) c.2775C>G (p.Val925=) c.2442C>G (p.Val814=) c.2523C>G (p.Val841=) c.2541C>G (p.Val847=) c.1800+255C>G (n.1800+255C>G) c.1485C>G (p.Val495=) c.736C>G n.3573C>G n.2120C>G c.2631C>G (p.Val877=) n.212-3274C>G c.2679C>G (p.Val893=) c.2739C>G (p.Val913=) c.2289C>G (p.Val763=) c.591C>G (p.Val197=) c.2730+255C>G (n.2730+255C>G) c.2361C>G (p.Val787=) c.1443C>G (p.Val481=) n.2994C>G | |
13 | g.51949752G>T | CA484024514 | ATP7B | c.*608C>A (n.*608C>A) c.*1519C>A (n.*1519C>A) c.2244+255C>A (n.2244+255C>A) c.2775C>A (p.Val925=) c.2442C>A (p.Val814=) c.2523C>A (p.Val841=) c.2541C>A (p.Val847=) c.1800+255C>A (n.1800+255C>A) c.1485C>A (p.Val495=) c.736C>A n.3573C>A n.2120C>A c.2631C>A (p.Val877=) n.212-3274C>A c.2679C>A (p.Val893=) c.2739C>A (p.Val913=) c.2289C>A (p.Val763=) c.591C>A (p.Val197=) c.2730+255C>A (n.2730+255C>A) c.2361C>A (p.Val787=) c.1443C>A (p.Val481=) n.2994C>A | |
13 | g.51949753A>C | CA388033750 | ATP7B | c.*607T>G (n.*607T>G) c.*1518T>G (n.*1518T>G) c.2244+254T>G (n.2244+254T>G) c.2774T>G (p.Val925Gly) c.2441T>G (p.Val814Gly) c.2522T>G (p.Val841Gly) c.2540T>G (p.Val847Gly) c.1800+254T>G (n.1800+254T>G) c.1484T>G (p.Val495Gly) c.735T>G n.3572T>G n.2119T>G c.2630T>G (p.Val877Gly) n.212-3275T>G c.2678T>G (p.Val893Gly) c.2738T>G (p.Val913Gly) c.2288T>G (p.Val763Gly) c.590T>G (p.Val197Gly) c.2730+254T>G (n.2730+254T>G) c.2360T>G (p.Val787Gly) c.1442T>G (p.Val481Gly) n.2993T>G | |
13 | g.51949753A>G | CA388033753 | ATP7B | c.*607T>C (n.*607T>C) c.*1518T>C (n.*1518T>C) c.2244+254T>C (n.2244+254T>C) c.2774T>C (p.Val925Ala) c.2441T>C (p.Val814Ala) c.2522T>C (p.Val841Ala) c.2540T>C (p.Val847Ala) c.1800+254T>C (n.1800+254T>C) c.1484T>C (p.Val495Ala) c.735T>C n.3572T>C n.2119T>C c.2630T>C (p.Val877Ala) n.212-3275T>C c.2678T>C (p.Val893Ala) c.2738T>C (p.Val913Ala) c.2288T>C (p.Val763Ala) c.590T>C (p.Val197Ala) c.2730+254T>C (n.2730+254T>C) c.2360T>C (p.Val787Ala) c.1442T>C (p.Val481Ala) n.2993T>C | COSMIC |
13 | g.51949753A>T | CA388033755 | ATP7B | c.*607T>A (n.*607T>A) c.*1518T>A (n.*1518T>A) c.2244+254T>A (n.2244+254T>A) c.2774T>A (p.Val925Asp) c.2441T>A (p.Val814Asp) c.2522T>A (p.Val841Asp) c.2540T>A (p.Val847Asp) c.1800+254T>A (n.1800+254T>A) c.1484T>A (p.Val495Asp) c.735T>A n.3572T>A n.2119T>A c.2630T>A (p.Val877Asp) n.212-3275T>A c.2678T>A (p.Val893Asp) c.2738T>A (p.Val913Asp) c.2288T>A (p.Val763Asp) c.590T>A (p.Val197Asp) c.2730+254T>A (n.2730+254T>A) c.2360T>A (p.Val787Asp) c.1442T>A (p.Val481Asp) n.2993T>A | |
13 | g.51949753_51949762delinsACAAAATATC | CA2091541483 | ATP7B | c.*598_*607delinsGATATTTTGT (n.*598_*607delinsGATATTTTGT) c.*1509_*1518delinsGATATTTTGT (n.*1509_*1518delinsGATATTTTGT) c.2244+245_2244+254delinsGATATTTTGT (n.2244+245_2244+254delinsGATATTTTGT) c.2765_2774delinsGATATTTTGT (p.Gly922=) c.2432_2441delinsGATATTTTGT (p.Gly811=) c.2513_2522delinsGATATTTTGT (p.Gly838=) c.2531_2540delinsGATATTTTGT (p.Gly844=) c.1800+245_1800+254delinsGATATTTTGT (n.1800+245_1800+254delinsGATATTTTGT) c.1475_1484delinsGATATTTTGT (p.Gly492=) c.726_735delinsGATATTTTGT n.3563_3572delinsGATATTTTGT n.2110_2119delinsGATATTTTGT c.2621_2630delinsGATATTTTGT (p.Gly874=) n.212-3284_212-3275delinsGATATTTTGT c.2669_2678delinsGATATTTTGT (p.Gly890=) c.2729_2738delinsGATATTTTGT (p.Gly910=) c.2279_2288delinsGATATTTTGT (p.Gly760=) c.581_590delinsGATATTTTGT (p.Gly194=) c.2730+245_2730+254delinsGATATTTTGT (n.2730+245_2730+254delinsGATATTTTGT) c.2351_2360delinsGATATTTTGT (p.Gly784=) c.1433_1442delinsGATATTTTGT (p.Gly478=) n.2984_2993delinsGATATTTTGT | |
13 | g.51949754C>A | CA250084890 | ATP7B | c.*606G>T (n.*606G>T) c.*1517G>T (n.*1517G>T) c.2244+253G>T (n.2244+253G>T) c.2773G>T (p.Val925Phe) c.2440G>T (p.Val814Phe) c.2521G>T (p.Val841Phe) c.2539G>T (p.Val847Phe) c.1800+253G>T (n.1800+253G>T) c.1483G>T (p.Val495Phe) c.734G>T n.3571G>T n.2118G>T c.2629G>T (p.Val877Phe) n.212-3276G>T c.2677G>T (p.Val893Phe) c.2737G>T (p.Val913Phe) c.2287G>T (p.Val763Phe) c.589G>T (p.Val197Phe) c.2730+253G>T (n.2730+253G>T) c.2359G>T (p.Val787Phe) c.1441G>T (p.Val481Phe) n.2992G>T | dbSNP |
13 | g.51949754C= | CA2091541488 | ATP7B | c.*606G= (n.*606G=) c.*1517G= (n.*1517G=) c.2244+253G= (n.2244+253G=) c.2773G= (p.Val925=) c.2440G= (p.Val814=) c.2521G= (p.Val841=) c.2539G= (p.Val847=) c.1800+253G= (n.1800+253G=) c.1483G= (p.Val495=) c.734G= n.3571G= n.2118G= c.2629G= (p.Val877=) n.212-3276G= c.2677G= (p.Val893=) c.2737G= (p.Val913=) c.2287G= (p.Val763=) c.589G= (p.Val197=) c.2730+253G= (n.2730+253G=) c.2359G= (p.Val787=) c.1441G= (p.Val481=) n.2992G= | |
13 | g.51949754C>G | CA388033759 | ATP7B | c.*606G>C (n.*606G>C) c.*1517G>C (n.*1517G>C) c.2244+253G>C (n.2244+253G>C) c.2773G>C (p.Val925Leu) c.2440G>C (p.Val814Leu) c.2521G>C (p.Val841Leu) c.2539G>C (p.Val847Leu) c.1800+253G>C (n.1800+253G>C) c.1483G>C (p.Val495Leu) c.734G>C n.3571G>C n.2118G>C c.2629G>C (p.Val877Leu) n.212-3276G>C c.2677G>C (p.Val893Leu) c.2737G>C (p.Val913Leu) c.2287G>C (p.Val763Leu) c.589G>C (p.Val197Leu) c.2730+253G>C (n.2730+253G>C) c.2359G>C (p.Val787Leu) c.1441G>C (p.Val481Leu) n.2992G>C | dbSNP |
13 | g.51949754C>T | CA388033761 | ATP7B | c.*606G>A (n.*606G>A) c.*1517G>A (n.*1517G>A) c.2244+253G>A (n.2244+253G>A) c.2773G>A (p.Val925Ile) c.2440G>A (p.Val814Ile) c.2521G>A (p.Val841Ile) c.2539G>A (p.Val847Ile) c.1800+253G>A (n.1800+253G>A) c.1483G>A (p.Val495Ile) c.734G>A n.3571G>A n.2118G>A c.2629G>A (p.Val877Ile) n.212-3276G>A c.2677G>A (p.Val893Ile) c.2737G>A (p.Val913Ile) c.2287G>A (p.Val763Ile) c.589G>A (p.Val197Ile) c.2730+253G>A (n.2730+253G>A) c.2359G>A (p.Val787Ile) c.1441G>A (p.Val481Ile) n.2992G>A | dbSNP |
13 | g.51949756_51949764del | CA2091541486 | ATP7B | c.*598_*606del (n.*598_*606del) c.*1509_*1517del (n.*1509_*1517del) c.2244+245_2244+253del (n.2244+245_2244+253del) c.2765_2773del (p.Gly922_Phe924del) c.2432_2440del (p.Gly811_Phe813del) c.2513_2521del (p.Gly838_Phe840del) c.2531_2539del (p.Gly844_Phe846del) c.1800+245_1800+253del (n.1800+245_1800+253del) c.1475_1483del (p.Gly492_Phe494del) c.726_734del n.3563_3571del n.2110_2118del c.2621_2629del (p.Gly874_Phe876del) n.212-3284_212-3276del c.2669_2677del (p.Gly890_Phe892del) c.2729_2737del (p.Gly910_Phe912del) c.2279_2287del (p.Gly760_Phe762del) c.581_589del (p.Gly194_Phe196del) c.2730+245_2730+253del (n.2730+245_2730+253del) c.2351_2359del (p.Gly784_Phe786del) c.1433_1441del (p.Gly478_Phe480del) n.2984_2992del | ClinVar dbSNP |
13 | g.51949755A>C | CA388033766 | ATP7B | c.*605T>G (n.*605T>G) c.*1516T>G (n.*1516T>G) c.2244+252T>G (n.2244+252T>G) c.2772T>G (p.Phe924Leu) c.2439T>G (p.Phe813Leu) c.2520T>G (p.Phe840Leu) c.2538T>G (p.Phe846Leu) c.1800+252T>G (n.1800+252T>G) c.1482T>G (p.Phe494Leu) c.733T>G n.3570T>G n.2117T>G c.2628T>G (p.Phe876Leu) n.212-3277T>G c.2676T>G (p.Phe892Leu) c.2736T>G (p.Phe912Leu) c.2286T>G (p.Phe762Leu) c.588T>G (p.Phe196Leu) c.2730+252T>G (n.2730+252T>G) c.2358T>G (p.Phe786Leu) c.1440T>G (p.Phe480Leu) n.2991T>G | |
13 | g.51949755A>G | CA484024517 | ATP7B | c.*605T>C (n.*605T>C) c.*1516T>C (n.*1516T>C) c.2244+252T>C (n.2244+252T>C) c.2772T>C (p.Phe924=) c.2439T>C (p.Phe813=) c.2520T>C (p.Phe840=) c.2538T>C (p.Phe846=) c.1800+252T>C (n.1800+252T>C) c.1482T>C (p.Phe494=) c.733T>C n.3570T>C n.2117T>C c.2628T>C (p.Phe876=) n.212-3277T>C c.2676T>C (p.Phe892=) c.2736T>C (p.Phe912=) c.2286T>C (p.Phe762=) c.588T>C (p.Phe196=) c.2730+252T>C (n.2730+252T>C) c.2358T>C (p.Phe786=) c.1440T>C (p.Phe480=) n.2991T>C | ClinVar dbSNP gnomAD v4 |
13 | g.51949755A>T | CA388033767 | ATP7B | c.*605T>A (n.*605T>A) c.*1516T>A (n.*1516T>A) c.2244+252T>A (n.2244+252T>A) c.2772T>A (p.Phe924Leu) c.2439T>A (p.Phe813Leu) c.2520T>A (p.Phe840Leu) c.2538T>A (p.Phe846Leu) c.1800+252T>A (n.1800+252T>A) c.1482T>A (p.Phe494Leu) c.733T>A n.3570T>A n.2117T>A c.2628T>A (p.Phe876Leu) n.212-3277T>A c.2676T>A (p.Phe892Leu) c.2736T>A (p.Phe912Leu) c.2286T>A (p.Phe762Leu) c.588T>A (p.Phe196Leu) c.2730+252T>A (n.2730+252T>A) c.2358T>A (p.Phe786Leu) c.1440T>A (p.Phe480Leu) n.2991T>A | |
13 | g.51949756A>C | CA388033771 | ATP7B | c.*604T>G (n.*604T>G) c.*1515T>G (n.*1515T>G) c.2244+251T>G (n.2244+251T>G) c.2771T>G (p.Phe924Cys) c.2438T>G (p.Phe813Cys) c.2519T>G (p.Phe840Cys) c.2537T>G (p.Phe846Cys) c.1800+251T>G (n.1800+251T>G) c.1481T>G (p.Phe494Cys) c.732T>G n.3569T>G n.2116T>G c.2627T>G (p.Phe876Cys) n.212-3278T>G c.2675T>G (p.Phe892Cys) c.2735T>G (p.Phe912Cys) c.2285T>G (p.Phe762Cys) c.587T>G (p.Phe196Cys) c.2730+251T>G (n.2730+251T>G) c.2357T>G (p.Phe786Cys) c.1439T>G (p.Phe480Cys) n.2990T>G | |
13 | g.51949756A>G | CA388033772 | ATP7B | c.*604T>C (n.*604T>C) c.*1515T>C (n.*1515T>C) c.2244+251T>C (n.2244+251T>C) c.2771T>C (p.Phe924Ser) c.2438T>C (p.Phe813Ser) c.2519T>C (p.Phe840Ser) c.2537T>C (p.Phe846Ser) c.1800+251T>C (n.1800+251T>C) c.1481T>C (p.Phe494Ser) c.732T>C n.3569T>C n.2116T>C c.2627T>C (p.Phe876Ser) n.212-3278T>C c.2675T>C (p.Phe892Ser) c.2735T>C (p.Phe912Ser) c.2285T>C (p.Phe762Ser) c.587T>C (p.Phe196Ser) c.2730+251T>C (n.2730+251T>C) c.2357T>C (p.Phe786Ser) c.1439T>C (p.Phe480Ser) n.2990T>C | |
13 | g.51949756A>T | CA388033777 | ATP7B | c.*604T>A (n.*604T>A) c.*1515T>A (n.*1515T>A) c.2244+251T>A (n.2244+251T>A) c.2771T>A (p.Phe924Tyr) c.2438T>A (p.Phe813Tyr) c.2519T>A (p.Phe840Tyr) c.2537T>A (p.Phe846Tyr) c.1800+251T>A (n.1800+251T>A) c.1481T>A (p.Phe494Tyr) c.732T>A n.3569T>A n.2116T>A c.2627T>A (p.Phe876Tyr) n.212-3278T>A c.2675T>A (p.Phe892Tyr) c.2735T>A (p.Phe912Tyr) c.2285T>A (p.Phe762Tyr) c.587T>A (p.Phe196Tyr) c.2730+251T>A (n.2730+251T>A) c.2357T>A (p.Phe786Tyr) c.1439T>A (p.Phe480Tyr) n.2990T>A | |
13 | g.51949757A>C | CA388033780 | ATP7B | c.*603T>G (n.*603T>G) c.*1514T>G (n.*1514T>G) c.2244+250T>G (n.2244+250T>G) c.2770T>G (p.Phe924Val) c.2437T>G (p.Phe813Val) c.2518T>G (p.Phe840Val) c.2536T>G (p.Phe846Val) c.1800+250T>G (n.1800+250T>G) c.1480T>G (p.Phe494Val) c.731T>G n.3568T>G n.2115T>G c.2626T>G (p.Phe876Val) n.212-3279T>G c.2674T>G (p.Phe892Val) c.2734T>G (p.Phe912Val) c.2284T>G (p.Phe762Val) c.586T>G (p.Phe196Val) c.2730+250T>G (n.2730+250T>G) c.2356T>G (p.Phe786Val) c.1438T>G (p.Phe480Val) n.2989T>G | |
13 | g.51949757A>G | CA388033784 | ATP7B | c.*603T>C (n.*603T>C) c.*1514T>C (n.*1514T>C) c.2244+250T>C (n.2244+250T>C) c.2770T>C (p.Phe924Leu) c.2437T>C (p.Phe813Leu) c.2518T>C (p.Phe840Leu) c.2536T>C (p.Phe846Leu) c.1800+250T>C (n.1800+250T>C) c.1480T>C (p.Phe494Leu) c.731T>C n.3568T>C n.2115T>C c.2626T>C (p.Phe876Leu) n.212-3279T>C c.2674T>C (p.Phe892Leu) c.2734T>C (p.Phe912Leu) c.2284T>C (p.Phe762Leu) c.586T>C (p.Phe196Leu) c.2730+250T>C (n.2730+250T>C) c.2356T>C (p.Phe786Leu) c.1438T>C (p.Phe480Leu) n.2989T>C | ClinVar |
13 | g.51949757A>T | CA388033782 | ATP7B | c.*603T>A (n.*603T>A) c.*1514T>A (n.*1514T>A) c.2244+250T>A (n.2244+250T>A) c.2770T>A (p.Phe924Ile) c.2437T>A (p.Phe813Ile) c.2518T>A (p.Phe840Ile) c.2536T>A (p.Phe846Ile) c.1800+250T>A (n.1800+250T>A) c.1480T>A (p.Phe494Ile) c.731T>A n.3568T>A n.2115T>A c.2626T>A (p.Phe876Ile) n.212-3279T>A c.2674T>A (p.Phe892Ile) c.2734T>A (p.Phe912Ile) c.2284T>A (p.Phe762Ile) c.586T>A (p.Phe196Ile) c.2730+250T>A (n.2730+250T>A) c.2356T>A (p.Phe786Ile) c.1438T>A (p.Phe480Ile) n.2989T>A | |
13 | g.51949758A>C | CA388033787 | ATP7B | c.*602T>G (n.*602T>G) c.*1513T>G (n.*1513T>G) c.2244+249T>G (n.2244+249T>G) c.2769T>G (p.Tyr923Ter) c.2436T>G (p.Tyr812Ter) c.2517T>G (p.Tyr839Ter) c.2535T>G (p.Tyr845Ter) c.1800+249T>G (n.1800+249T>G) c.1479T>G (p.Tyr493Ter) c.730T>G n.3567T>G n.2114T>G c.2625T>G (p.Tyr875Ter) n.212-3280T>G c.2673T>G (p.Tyr891Ter) c.2733T>G (p.Tyr911Ter) c.2283T>G (p.Tyr761Ter) c.585T>G (p.Tyr195Ter) c.2730+249T>G (n.2730+249T>G) c.2355T>G (p.Tyr785Ter) c.1437T>G (p.Tyr479Ter) n.2988T>G | |
13 | g.51949758A>G | CA484024518 | ATP7B | c.*602T>C (n.*602T>C) c.*1513T>C (n.*1513T>C) c.2244+249T>C (n.2244+249T>C) c.2769T>C (p.Tyr923=) c.2436T>C (p.Tyr812=) c.2517T>C (p.Tyr839=) c.2535T>C (p.Tyr845=) c.1800+249T>C (n.1800+249T>C) c.1479T>C (p.Tyr493=) c.730T>C n.3567T>C n.2114T>C c.2625T>C (p.Tyr875=) n.212-3280T>C c.2673T>C (p.Tyr891=) c.2733T>C (p.Tyr911=) c.2283T>C (p.Tyr761=) c.585T>C (p.Tyr195=) c.2730+249T>C (n.2730+249T>C) c.2355T>C (p.Tyr785=) c.1437T>C (p.Tyr479=) n.2988T>C | |
13 | g.51949758A>T | CA388033790 | ATP7B | c.*602T>A (n.*602T>A) c.*1513T>A (n.*1513T>A) c.2244+249T>A (n.2244+249T>A) c.2769T>A (p.Tyr923Ter) c.2436T>A (p.Tyr812Ter) c.2517T>A (p.Tyr839Ter) c.2535T>A (p.Tyr845Ter) c.1800+249T>A (n.1800+249T>A) c.1479T>A (p.Tyr493Ter) c.730T>A n.3567T>A n.2114T>A c.2625T>A (p.Tyr875Ter) n.212-3280T>A c.2673T>A (p.Tyr891Ter) c.2733T>A (p.Tyr911Ter) c.2283T>A (p.Tyr761Ter) c.585T>A (p.Tyr195Ter) c.2730+249T>A (n.2730+249T>A) c.2355T>A (p.Tyr785Ter) c.1437T>A (p.Tyr479Ter) n.2988T>A | |
13 | g.51949759T>A | CA388033792 | ATP7B | c.*601A>T (n.*601A>T) c.*1512A>T (n.*1512A>T) c.2244+248A>T (n.2244+248A>T) c.2768A>T (p.Tyr923Phe) c.2435A>T (p.Tyr812Phe) c.2516A>T (p.Tyr839Phe) c.2534A>T (p.Tyr845Phe) c.1800+248A>T (n.1800+248A>T) c.1478A>T (p.Tyr493Phe) c.729A>T n.3566A>T n.2113A>T c.2624A>T (p.Tyr875Phe) n.212-3281A>T c.2672A>T (p.Tyr891Phe) c.2732A>T (p.Tyr911Phe) c.2282A>T (p.Tyr761Phe) c.584A>T (p.Tyr195Phe) c.2730+248A>T (n.2730+248A>T) c.2354A>T (p.Tyr785Phe) c.1436A>T (p.Tyr479Phe) n.2987A>T | |
13 | g.51949759T>C | CA388033794 | ATP7B | c.*601A>G (n.*601A>G) c.*1512A>G (n.*1512A>G) c.2244+248A>G (n.2244+248A>G) c.2768A>G (p.Tyr923Cys) c.2435A>G (p.Tyr812Cys) c.2516A>G (p.Tyr839Cys) c.2534A>G (p.Tyr845Cys) c.1800+248A>G (n.1800+248A>G) c.1478A>G (p.Tyr493Cys) c.729A>G n.3566A>G n.2113A>G c.2624A>G (p.Tyr875Cys) n.212-3281A>G c.2672A>G (p.Tyr891Cys) c.2732A>G (p.Tyr911Cys) c.2282A>G (p.Tyr761Cys) c.584A>G (p.Tyr195Cys) c.2730+248A>G (n.2730+248A>G) c.2354A>G (p.Tyr785Cys) c.1436A>G (p.Tyr479Cys) n.2987A>G | ClinVar gnomAD v4 |
13 | g.51949759T>G | CA388033798 | ATP7B | c.*601A>C (n.*601A>C) c.*1512A>C (n.*1512A>C) c.2244+248A>C (n.2244+248A>C) c.2768A>C (p.Tyr923Ser) c.2435A>C (p.Tyr812Ser) c.2516A>C (p.Tyr839Ser) c.2534A>C (p.Tyr845Ser) c.1800+248A>C (n.1800+248A>C) c.1478A>C (p.Tyr493Ser) c.729A>C n.3566A>C n.2113A>C c.2624A>C (p.Tyr875Ser) n.212-3281A>C c.2672A>C (p.Tyr891Ser) c.2732A>C (p.Tyr911Ser) c.2282A>C (p.Tyr761Ser) c.584A>C (p.Tyr195Ser) c.2730+248A>C (n.2730+248A>C) c.2354A>C (p.Tyr785Ser) c.1436A>C (p.Tyr479Ser) n.2987A>C | |
13 | g.51949759dup | CA2623118064 | ATP7B | c.*601dup (n.*601dup) c.*1512dup (n.*1512dup) c.2244+248dup (n.2244+248dup) c.2768dup (p.Tyr923Ter) c.2435dup (p.Tyr812Ter) c.2516dup (p.Tyr839Ter) c.2534dup (p.Tyr845Ter) c.1800+248dup (n.1800+248dup) c.1478dup (p.Tyr493Ter) c.729dup n.3566dup n.2113dup c.2624dup (p.Tyr875Ter) n.212-3281dup c.2672dup (p.Tyr891Ter) c.2732dup (p.Tyr911Ter) c.2282dup (p.Tyr761Ter) c.584dup (p.Tyr195Ter) c.2730+248dup (n.2730+248dup) c.2354dup (p.Tyr785Ter) c.1436dup (p.Tyr479Ter) n.2987dup | gnomAD v4 |
13 | g.51949760A>C | CA388033800 | ATP7B | c.*600T>G (n.*600T>G) c.*1511T>G (n.*1511T>G) c.2244+247T>G (n.2244+247T>G) c.2767T>G (p.Tyr923Asp) c.2434T>G (p.Tyr812Asp) c.2515T>G (p.Tyr839Asp) c.2533T>G (p.Tyr845Asp) c.1800+247T>G (n.1800+247T>G) c.1477T>G (p.Tyr493Asp) c.728T>G n.3565T>G n.2112T>G c.2623T>G (p.Tyr875Asp) n.212-3282T>G c.2671T>G (p.Tyr891Asp) c.2731T>G (p.Tyr911Asp) c.2281T>G (p.Tyr761Asp) c.583T>G (p.Tyr195Asp) c.2730+247T>G (n.2730+247T>G) c.2353T>G (p.Tyr785Asp) c.1435T>G (p.Tyr479Asp) n.2986T>G | |
13 | g.51949760A>G | CA388033802 | ATP7B | c.*600T>C (n.*600T>C) c.*1511T>C (n.*1511T>C) c.2244+247T>C (n.2244+247T>C) c.2767T>C (p.Tyr923His) c.2434T>C (p.Tyr812His) c.2515T>C (p.Tyr839His) c.2533T>C (p.Tyr845His) c.1800+247T>C (n.1800+247T>C) c.1477T>C (p.Tyr493His) c.728T>C n.3565T>C n.2112T>C c.2623T>C (p.Tyr875His) n.212-3282T>C c.2671T>C (p.Tyr891His) c.2731T>C (p.Tyr911His) c.2281T>C (p.Tyr761His) c.583T>C (p.Tyr195His) c.2730+247T>C (n.2730+247T>C) c.2353T>C (p.Tyr785His) c.1435T>C (p.Tyr479His) n.2986T>C | |
13 | g.51949760A>T | CA388033804 | ATP7B | c.*600T>A (n.*600T>A) c.*1511T>A (n.*1511T>A) c.2244+247T>A (n.2244+247T>A) c.2767T>A (p.Tyr923Asn) c.2434T>A (p.Tyr812Asn) c.2515T>A (p.Tyr839Asn) c.2533T>A (p.Tyr845Asn) c.1800+247T>A (n.1800+247T>A) c.1477T>A (p.Tyr493Asn) c.728T>A n.3565T>A n.2112T>A c.2623T>A (p.Tyr875Asn) n.212-3282T>A c.2671T>A (p.Tyr891Asn) c.2731T>A (p.Tyr911Asn) c.2281T>A (p.Tyr761Asn) c.583T>A (p.Tyr195Asn) c.2730+247T>A (n.2730+247T>A) c.2353T>A (p.Tyr785Asn) c.1435T>A (p.Tyr479Asn) n.2986T>A | |
13 | g.51949761T>A | CA484024519 | ATP7B | c.*599A>T (n.*599A>T) c.*1510A>T (n.*1510A>T) c.2244+246A>T (n.2244+246A>T) c.2766A>T (p.Gly922=) c.2433A>T (p.Gly811=) c.2514A>T (p.Gly838=) c.2532A>T (p.Gly844=) c.1800+246A>T (n.1800+246A>T) c.1476A>T (p.Gly492=) c.727A>T n.3564A>T n.2111A>T c.2622A>T (p.Gly874=) n.212-3283A>T c.2670A>T (p.Gly890=) c.2730A>T (p.Gly910=) c.2280A>T (p.Gly760=) c.582A>T (p.Gly194=) c.2730+246A>T (n.2730+246A>T) c.2352A>T (p.Gly784=) c.1434A>T (p.Gly478=) n.2985A>T | ClinVar gnomAD v4 |
13 | g.51949761T>C | CA484024520 | ATP7B | c.*599A>G (n.*599A>G) c.*1510A>G (n.*1510A>G) c.2244+246A>G (n.2244+246A>G) c.2766A>G (p.Gly922=) c.2433A>G (p.Gly811=) c.2514A>G (p.Gly838=) c.2532A>G (p.Gly844=) c.1800+246A>G (n.1800+246A>G) c.1476A>G (p.Gly492=) c.727A>G n.3564A>G n.2111A>G c.2622A>G (p.Gly874=) n.212-3283A>G c.2670A>G (p.Gly890=) c.2730A>G (p.Gly910=) c.2280A>G (p.Gly760=) c.582A>G (p.Gly194=) c.2730+246A>G (n.2730+246A>G) c.2352A>G (p.Gly784=) c.1434A>G (p.Gly478=) n.2985A>G | ClinVar |
13 | g.51949761T>G | CA484024521 | ATP7B | c.*599A>C (n.*599A>C) c.*1510A>C (n.*1510A>C) c.2244+246A>C (n.2244+246A>C) c.2766A>C (p.Gly922=) c.2433A>C (p.Gly811=) c.2514A>C (p.Gly838=) c.2532A>C (p.Gly844=) c.1800+246A>C (n.1800+246A>C) c.1476A>C (p.Gly492=) c.727A>C n.3564A>C n.2111A>C c.2622A>C (p.Gly874=) n.212-3283A>C c.2670A>C (p.Gly890=) c.2730A>C (p.Gly910=) c.2280A>C (p.Gly760=) c.582A>C (p.Gly194=) c.2730+246A>C (n.2730+246A>C) c.2352A>C (p.Gly784=) c.1434A>C (p.Gly478=) n.2985A>C | gnomAD v4 |
13 | g.51949762C>A | CA6988912 | ATP7B | c.*598G>T (n.*598G>T) c.*1509G>T (n.*1509G>T) c.2244+245G>T (n.2244+245G>T) c.2765G>T (p.Gly922Val) c.2432G>T (p.Gly811Val) c.2513G>T (p.Gly838Val) c.2531G>T (p.Gly844Val) c.1800+245G>T (n.1800+245G>T) c.1475G>T (p.Gly492Val) c.726G>T n.3563G>T n.2110G>T c.2621G>T (p.Gly874Val) n.212-3284G>T c.2669G>T (p.Gly890Val) c.2729G>T (p.Gly910Val) c.2279G>T (p.Gly760Val) c.581G>T (p.Gly194Val) c.2730+245G>T (n.2730+245G>T) c.2351G>T (p.Gly784Val) c.1433G>T (p.Gly478Val) n.2984G>T | dbSNP ExAC gnomAD v2 |
13 | g.51949762C= | CA2091541490 | ATP7B | c.*598G= (n.*598G=) c.*1509G= (n.*1509G=) c.2244+245G= (n.2244+245G=) c.2765G= (p.Gly922=) c.2432G= (p.Gly811=) c.2513G= (p.Gly838=) c.2531G= (p.Gly844=) c.1800+245G= (n.1800+245G=) c.1475G= (p.Gly492=) c.726G= n.3563G= n.2110G= c.2621G= (p.Gly874=) n.212-3284G= c.2669G= (p.Gly890=) c.2729G= (p.Gly910=) c.2279G= (p.Gly760=) c.581G= (p.Gly194=) c.2730+245G= (n.2730+245G=) c.2351G= (p.Gly784=) c.1433G= (p.Gly478=) n.2984G= | |
13 | g.51949762C>G | CA388033808 | ATP7B | c.*598G>C (n.*598G>C) c.*1509G>C (n.*1509G>C) c.2244+245G>C (n.2244+245G>C) c.2765G>C (p.Gly922Ala) c.2432G>C (p.Gly811Ala) c.2513G>C (p.Gly838Ala) c.2531G>C (p.Gly844Ala) c.1800+245G>C (n.1800+245G>C) c.1475G>C (p.Gly492Ala) c.726G>C n.3563G>C n.2110G>C c.2621G>C (p.Gly874Ala) n.212-3284G>C c.2669G>C (p.Gly890Ala) c.2729G>C (p.Gly910Ala) c.2279G>C (p.Gly760Ala) c.581G>C (p.Gly194Ala) c.2730+245G>C (n.2730+245G>C) c.2351G>C (p.Gly784Ala) c.1433G>C (p.Gly478Ala) n.2984G>C | |
13 | g.51949762C>T | CA388033811 | ATP7B | c.*598G>A (n.*598G>A) c.*1509G>A (n.*1509G>A) c.2244+245G>A (n.2244+245G>A) c.2765G>A (p.Gly922Glu) c.2432G>A (p.Gly811Glu) c.2513G>A (p.Gly838Glu) c.2531G>A (p.Gly844Glu) c.1800+245G>A (n.1800+245G>A) c.1475G>A (p.Gly492Glu) c.726G>A n.3563G>A n.2110G>A c.2621G>A (p.Gly874Glu) n.212-3284G>A c.2669G>A (p.Gly890Glu) c.2729G>A (p.Gly910Glu) c.2279G>A (p.Gly760Glu) c.581G>A (p.Gly194Glu) c.2730+245G>A (n.2730+245G>A) c.2351G>A (p.Gly784Glu) c.1433G>A (p.Gly478Glu) n.2984G>A | gnomAD v4 |
13 | g.51949763C>A | CA388033813 | ATP7B | c.*597G>T (n.*597G>T) c.*1508G>T (n.*1508G>T) c.2244+244G>T (n.2244+244G>T) c.2764G>T (p.Gly922Ter) c.2431G>T (p.Gly811Ter) c.2512G>T (p.Gly838Ter) c.2530G>T (p.Gly844Ter) c.1800+244G>T (n.1800+244G>T) c.1474G>T (p.Gly492Ter) c.725G>T n.3562G>T n.2109G>T c.2620G>T (p.Gly874Ter) n.212-3285G>T c.2668G>T (p.Gly890Ter) c.2728G>T (p.Gly910Ter) c.2278G>T (p.Gly760Ter) c.580G>T (p.Gly194Ter) c.2730+244G>T (n.2730+244G>T) c.2350G>T (p.Gly784Ter) c.1432G>T (p.Gly478Ter) n.2983G>T | |
13 | g.51949763C= | CA2091541493 | ATP7B | c.*597G= (n.*597G=) c.*1508G= (n.*1508G=) c.2244+244G= (n.2244+244G=) c.2764G= (p.Gly922=) c.2431G= (p.Gly811=) c.2512G= (p.Gly838=) c.2530G= (p.Gly844=) c.1800+244G= (n.1800+244G=) c.1474G= (p.Gly492=) c.725G= n.3562G= n.2109G= c.2620G= (p.Gly874=) n.212-3285G= c.2668G= (p.Gly890=) c.2728G= (p.Gly910=) c.2278G= (p.Gly760=) c.580G= (p.Gly194=) c.2730+244G= (n.2730+244G=) c.2350G= (p.Gly784=) c.1432G= (p.Gly478=) n.2983G= | |
13 | g.51949763C>G | CA388033816 | ATP7B | c.*597G>C (n.*597G>C) c.*1508G>C (n.*1508G>C) c.2244+244G>C (n.2244+244G>C) c.2764G>C (p.Gly922Arg) c.2431G>C (p.Gly811Arg) c.2512G>C (p.Gly838Arg) c.2530G>C (p.Gly844Arg) c.1800+244G>C (n.1800+244G>C) c.1474G>C (p.Gly492Arg) c.725G>C n.3562G>C n.2109G>C c.2620G>C (p.Gly874Arg) n.212-3285G>C c.2668G>C (p.Gly890Arg) c.2728G>C (p.Gly910Arg) c.2278G>C (p.Gly760Arg) c.580G>C (p.Gly194Arg) c.2730+244G>C (n.2730+244G>C) c.2350G>C (p.Gly784Arg) c.1432G>C (p.Gly478Arg) n.2983G>C | |
13 | g.51949763C>T | CA388033815 | ATP7B | c.*597G>A (n.*597G>A) c.*1508G>A (n.*1508G>A) c.2244+244G>A (n.2244+244G>A) c.2764G>A (p.Gly922Arg) c.2431G>A (p.Gly811Arg) c.2512G>A (p.Gly838Arg) c.2530G>A (p.Gly844Arg) c.1800+244G>A (n.1800+244G>A) c.1474G>A (p.Gly492Arg) c.725G>A n.3562G>A n.2109G>A c.2620G>A (p.Gly874Arg) n.212-3285G>A c.2668G>A (p.Gly890Arg) c.2728G>A (p.Gly910Arg) c.2278G>A (p.Gly760Arg) c.580G>A (p.Gly194Arg) c.2730+244G>A (n.2730+244G>A) c.2350G>A (p.Gly784Arg) c.1432G>A (p.Gly478Arg) n.2983G>A | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51949764A= | CA2091541496 | ATP7B | c.*596T= (n.*596T=) c.*1507T= (n.*1507T=) c.2244+243T= (n.2244+243T=) c.2763T= (p.Ser921=) c.2430T= (p.Ser810=) c.2511T= (p.Ser837=) c.2529T= (p.Ser843=) c.1800+243T= (n.1800+243T=) c.1473T= (p.Ser491=) c.724T= n.3561T= n.2108T= c.2619T= (p.Ser873=) n.212-3286T= c.2667T= (p.Ser889=) c.2727T= (p.Ser909=) c.2277T= (p.Ser759=) c.579T= (p.Ser193=) c.2730+243T= (n.2730+243T=) c.2349T= (p.Ser783=) c.1431T= (p.Ser477=) n.2982T= | |
13 | g.51949764A>C | CA388033818 | ATP7B | c.*596T>G (n.*596T>G) c.*1507T>G (n.*1507T>G) c.2244+243T>G (n.2244+243T>G) c.2763T>G (p.Ser921Arg) c.2430T>G (p.Ser810Arg) c.2511T>G (p.Ser837Arg) c.2529T>G (p.Ser843Arg) c.1800+243T>G (n.1800+243T>G) c.1473T>G (p.Ser491Arg) c.724T>G n.3561T>G n.2108T>G c.2619T>G (p.Ser873Arg) n.212-3286T>G c.2667T>G (p.Ser889Arg) c.2727T>G (p.Ser909Arg) c.2277T>G (p.Ser759Arg) c.579T>G (p.Ser193Arg) c.2730+243T>G (n.2730+243T>G) c.2349T>G (p.Ser783Arg) c.1431T>G (p.Ser477Arg) n.2982T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51949764A>G | CA250084891 | ATP7B | c.*596T>C (n.*596T>C) c.*1507T>C (n.*1507T>C) c.2244+243T>C (n.2244+243T>C) c.2763T>C (p.Ser921=) c.2430T>C (p.Ser810=) c.2511T>C (p.Ser837=) c.2529T>C (p.Ser843=) c.1800+243T>C (n.1800+243T>C) c.1473T>C (p.Ser491=) c.724T>C n.3561T>C n.2108T>C c.2619T>C (p.Ser873=) n.212-3286T>C c.2667T>C (p.Ser889=) c.2727T>C (p.Ser909=) c.2277T>C (p.Ser759=) c.579T>C (p.Ser193=) c.2730+243T>C (n.2730+243T>C) c.2349T>C (p.Ser783=) c.1431T>C (p.Ser477=) n.2982T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51949764A>T | CA250084899 | ATP7B | c.*596T>A (n.*596T>A) c.*1507T>A (n.*1507T>A) c.2244+243T>A (n.2244+243T>A) c.2763T>A (p.Ser921Arg) c.2430T>A (p.Ser810Arg) c.2511T>A (p.Ser837Arg) c.2529T>A (p.Ser843Arg) c.1800+243T>A (n.1800+243T>A) c.1473T>A (p.Ser491Arg) c.724T>A n.3561T>A n.2108T>A c.2619T>A (p.Ser873Arg) n.212-3286T>A c.2667T>A (p.Ser889Arg) c.2727T>A (p.Ser909Arg) c.2277T>A (p.Ser759Arg) c.579T>A (p.Ser193Arg) c.2730+243T>A (n.2730+243T>A) c.2349T>A (p.Ser783Arg) c.1431T>A (p.Ser477Arg) n.2982T>A | ClinVar dbSNP gnomAD v4 |
13 | g.51949765C>A | CA388033823 | ATP7B | c.*595G>T (n.*595G>T) c.*1506G>T (n.*1506G>T) c.2244+242G>T (n.2244+242G>T) c.2762G>T (p.Ser921Ile) c.2429G>T (p.Ser810Ile) c.2510G>T (p.Ser837Ile) c.2528G>T (p.Ser843Ile) c.1800+242G>T (n.1800+242G>T) c.1472G>T (p.Ser491Ile) c.723G>T n.3560G>T n.2107G>T c.2618G>T (p.Ser873Ile) n.212-3287G>T c.2666G>T (p.Ser889Ile) c.2726G>T (p.Ser909Ile) c.2276G>T (p.Ser759Ile) c.578G>T (p.Ser193Ile) c.2730+242G>T (n.2730+242G>T) c.2348G>T (p.Ser783Ile) c.1430G>T (p.Ser477Ile) n.2981G>T | ClinVar |
13 | g.51949765C= | CA2091541504 | ATP7B | c.*595G= (n.*595G=) c.*1506G= (n.*1506G=) c.2244+242G= (n.2244+242G=) c.2762G= (p.Ser921=) c.2429G= (p.Ser810=) c.2510G= (p.Ser837=) c.2528G= (p.Ser843=) c.1800+242G= (n.1800+242G=) c.1472G= (p.Ser491=) c.723G= n.3560G= n.2107G= c.2618G= (p.Ser873=) n.212-3287G= c.2666G= (p.Ser889=) c.2726G= (p.Ser909=) c.2276G= (p.Ser759=) c.578G= (p.Ser193=) c.2730+242G= (n.2730+242G=) c.2348G= (p.Ser783=) c.1430G= (p.Ser477=) n.2981G= | |
13 | g.51949765C>G | CA388033826 | ATP7B | c.*595G>C (n.*595G>C) c.*1506G>C (n.*1506G>C) c.2244+242G>C (n.2244+242G>C) c.2762G>C (p.Ser921Thr) c.2429G>C (p.Ser810Thr) c.2510G>C (p.Ser837Thr) c.2528G>C (p.Ser843Thr) c.1800+242G>C (n.1800+242G>C) c.1472G>C (p.Ser491Thr) c.723G>C n.3560G>C n.2107G>C c.2618G>C (p.Ser873Thr) n.212-3287G>C c.2666G>C (p.Ser889Thr) c.2726G>C (p.Ser909Thr) c.2276G>C (p.Ser759Thr) c.578G>C (p.Ser193Thr) c.2730+242G>C (n.2730+242G>C) c.2348G>C (p.Ser783Thr) c.1430G>C (p.Ser477Thr) n.2981G>C | |
13 | g.51949765C>T | CA388033824 | ATP7B | c.*595G>A (n.*595G>A) c.*1506G>A (n.*1506G>A) c.2244+242G>A (n.2244+242G>A) c.2762G>A (p.Ser921Asn) c.2429G>A (p.Ser810Asn) c.2510G>A (p.Ser837Asn) c.2528G>A (p.Ser843Asn) c.1800+242G>A (n.1800+242G>A) c.1472G>A (p.Ser491Asn) c.723G>A n.3560G>A n.2107G>A c.2618G>A (p.Ser873Asn) n.212-3287G>A c.2666G>A (p.Ser889Asn) c.2726G>A (p.Ser909Asn) c.2276G>A (p.Ser759Asn) c.578G>A (p.Ser193Asn) c.2730+242G>A (n.2730+242G>A) c.2348G>A (p.Ser783Asn) c.1430G>A (p.Ser477Asn) n.2981G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51949766T>A | CA388033829 | ATP7B | c.*594A>T (n.*594A>T) c.*1505A>T (n.*1505A>T) c.2244+241A>T (n.2244+241A>T) c.2761A>T (p.Ser921Cys) c.2428A>T (p.Ser810Cys) c.2509A>T (p.Ser837Cys) c.2527A>T (p.Ser843Cys) c.1800+241A>T (n.1800+241A>T) c.1471A>T (p.Ser491Cys) c.722A>T n.3559A>T n.2106A>T c.2617A>T (p.Ser873Cys) n.212-3288A>T c.2665A>T (p.Ser889Cys) c.2725A>T (p.Ser909Cys) c.2275A>T (p.Ser759Cys) c.577A>T (p.Ser193Cys) c.2730+241A>T (n.2730+241A>T) c.2347A>T (p.Ser783Cys) c.1429A>T (p.Ser477Cys) n.2980A>T | |
13 | g.51949766T>C | CA388033831 | ATP7B | c.*594A>G (n.*594A>G) c.*1505A>G (n.*1505A>G) c.2244+241A>G (n.2244+241A>G) c.2761A>G (p.Ser921Gly) c.2428A>G (p.Ser810Gly) c.2509A>G (p.Ser837Gly) c.2527A>G (p.Ser843Gly) c.1800+241A>G (n.1800+241A>G) c.1471A>G (p.Ser491Gly) c.722A>G n.3559A>G n.2106A>G c.2617A>G (p.Ser873Gly) n.212-3288A>G c.2665A>G (p.Ser889Gly) c.2725A>G (p.Ser909Gly) c.2275A>G (p.Ser759Gly) c.577A>G (p.Ser193Gly) c.2730+241A>G (n.2730+241A>G) c.2347A>G (p.Ser783Gly) c.1429A>G (p.Ser477Gly) n.2980A>G | |
13 | g.51949766T>G | CA388033834 | ATP7B | c.*594A>C (n.*594A>C) c.*1505A>C (n.*1505A>C) c.2244+241A>C (n.2244+241A>C) c.2761A>C (p.Ser921Arg) c.2428A>C (p.Ser810Arg) c.2509A>C (p.Ser837Arg) c.2527A>C (p.Ser843Arg) c.1800+241A>C (n.1800+241A>C) c.1471A>C (p.Ser491Arg) c.722A>C n.3559A>C n.2106A>C c.2617A>C (p.Ser873Arg) n.212-3288A>C c.2665A>C (p.Ser889Arg) c.2725A>C (p.Ser909Arg) c.2275A>C (p.Ser759Arg) c.577A>C (p.Ser193Arg) c.2730+241A>C (n.2730+241A>C) c.2347A>C (p.Ser783Arg) c.1429A>C (p.Ser477Arg) n.2980A>C |