UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51944237_51944253del | CA2575420443 | ATP7B | c.*894-1699_*894-1683del (n.*894-1699_*894-1683del) c.*1843_*1859del (n.*1843_*1859del) c.2478_2494del (p.Gly828AlafsTer28) c.3099_3115del (p.Gly1035AlafsTer28) c.2766_2782del (p.Gly924AlafsTer28) c.2847_2863del (p.Gly951AlafsTer28) c.2865_2881del (p.Gly957AlafsTer28) n.3238_3254del n.3462_3478del c.2034_2050del (p.Gly680AlafsTer28) c.1809_1825del (p.Gly605AlafsTer28) c.2904_2920del (p.Gly970AlafsTer28) n.319_335del c.1022-1699_1022-1683del c.*200_*216del (n.*200_*216del) n.3843_3859del n.2444_2460del c.2955_2971del (p.Gly987AlafsTer28) n.445_461del c.3003_3019del (p.Gly1003AlafsTer28) c.3063_3079del (p.Gly1023AlafsTer28) c.2613_2629del (p.Gly873AlafsTer28) c.915_931del (p.Gly307AlafsTer28) c.877-1699_877-1683del (n.877-1699_877-1683del) c.2964_2980del (p.Gly990AlafsTer28) c.3061-1699_3061-1683del (n.3061-1699_3061-1683del) c.2685_2701del (p.Gly897AlafsTer28) c.2731-1699_2731-1683del (n.2731-1699_2731-1683del) c.1767_1783del (p.Gly591AlafsTer28) n.3318_3334del | |
| 13 | g.51944252G>A | CA388030454 | ATP7B | c.*894-1698C>T (n.*894-1698C>T) c.*1844C>T (n.*1844C>T) c.2479C>T (p.His827Tyr) c.3100C>T (p.His1034Tyr) c.2767C>T (p.His923Tyr) c.2848C>T (p.His950Tyr) c.2866C>T (p.His956Tyr) n.3239C>T n.3463C>T c.2035C>T (p.His679Tyr) c.1810C>T (p.His604Tyr) c.2905C>T (p.His969Tyr) n.320C>T c.1022-1698C>T c.*201C>T (n.*201C>T) n.3844C>T n.2445C>T c.2956C>T (p.His986Tyr) n.446C>T c.3004C>T (p.His1002Tyr) c.3064C>T (p.His1022Tyr) c.2614C>T (p.His872Tyr) c.916C>T (p.His306Tyr) c.877-1698C>T (n.877-1698C>T) c.2965C>T (p.His989Tyr) c.3061-1698C>T (n.3061-1698C>T) c.2686C>T (p.His896Tyr) c.2731-1698C>T (n.2731-1698C>T) c.1768C>T (p.His590Tyr) n.3319C>T | |
| 13 | g.51944252G>C | CA388030457 | ATP7B | c.*894-1698C>G (n.*894-1698C>G) c.*1844C>G (n.*1844C>G) c.2479C>G (p.His827Asp) c.3100C>G (p.His1034Asp) c.2767C>G (p.His923Asp) c.2848C>G (p.His950Asp) c.2866C>G (p.His956Asp) n.3239C>G n.3463C>G c.2035C>G (p.His679Asp) c.1810C>G (p.His604Asp) c.2905C>G (p.His969Asp) n.320C>G c.1022-1698C>G c.*201C>G (n.*201C>G) n.3844C>G n.2445C>G c.2956C>G (p.His986Asp) n.446C>G c.3004C>G (p.His1002Asp) c.3064C>G (p.His1022Asp) c.2614C>G (p.His872Asp) c.916C>G (p.His306Asp) c.877-1698C>G (n.877-1698C>G) c.2965C>G (p.His989Asp) c.3061-1698C>G (n.3061-1698C>G) c.2686C>G (p.His896Asp) c.2731-1698C>G (n.2731-1698C>G) c.1768C>G (p.His590Asp) n.3319C>G | gnomAD v4 |
| 13 | g.51944252G= | CA2091564149 | ATP7B | c.*894-1698C= (n.*894-1698C=) c.*1844C= (n.*1844C=) c.2479C= (p.His827=) c.3100C= (p.His1034=) c.2767C= (p.His923=) c.2848C= (p.His950=) c.2866C= (p.His956=) n.3239C= n.3463C= c.2035C= (p.His679=) c.1810C= (p.His604=) c.2905C= (p.His969=) n.320C= c.1022-1698C= c.*201C= (n.*201C=) n.3844C= n.2445C= c.2956C= (p.His986=) n.446C= c.3004C= (p.His1002=) c.3064C= (p.His1022=) c.2614C= (p.His872=) c.916C= (p.His306=) c.877-1698C= (n.877-1698C=) c.2965C= (p.His989=) c.3061-1698C= (n.3061-1698C=) c.2686C= (p.His896=) c.2731-1698C= (n.2731-1698C=) c.1768C= (p.His590=) n.3319C= | |
| 13 | g.51944252G>T | CA388030462 | ATP7B | c.*894-1698C>A (n.*894-1698C>A) c.*1844C>A (n.*1844C>A) c.2479C>A (p.His827Asn) c.3100C>A (p.His1034Asn) c.2767C>A (p.His923Asn) c.2848C>A (p.His950Asn) c.2866C>A (p.His956Asn) n.3239C>A n.3463C>A c.2035C>A (p.His679Asn) c.1810C>A (p.His604Asn) c.2905C>A (p.His969Asn) n.320C>A c.1022-1698C>A c.*201C>A (n.*201C>A) n.3844C>A n.2445C>A c.2956C>A (p.His986Asn) n.446C>A c.3004C>A (p.His1002Asn) c.3064C>A (p.His1022Asn) c.2614C>A (p.His872Asn) c.916C>A (p.His306Asn) c.877-1698C>A (n.877-1698C>A) c.2965C>A (p.His989Asn) c.3061-1698C>A (n.3061-1698C>A) c.2686C>A (p.His896Asn) c.2731-1698C>A (n.2731-1698C>A) c.1768C>A (p.His590Asn) n.3319C>A | |
| 13 | g.51944253G>A | CA483894750 | ATP7B | c.*894-1699C>T (n.*894-1699C>T) c.*1843C>T (n.*1843C>T) c.2478C>T (p.Thr826=) c.3099C>T (p.Thr1033=) c.2766C>T (p.Thr922=) c.2847C>T (p.Thr949=) c.2865C>T (p.Thr955=) n.3238C>T n.3462C>T c.2034C>T (p.Thr678=) c.1809C>T (p.Thr603=) c.2904C>T (p.Thr968=) n.319C>T c.1022-1699C>T c.*200C>T (n.*200C>T) n.3843C>T n.2444C>T c.2955C>T (p.Thr985=) n.445C>T c.3003C>T (p.Thr1001=) c.3063C>T (p.Thr1021=) c.2613C>T (p.Thr871=) c.915C>T (p.Thr305=) c.877-1699C>T (n.877-1699C>T) c.2964C>T (p.Thr988=) c.3061-1699C>T (n.3061-1699C>T) c.2685C>T (p.Thr895=) c.2731-1699C>T (n.2731-1699C>T) c.1767C>T (p.Thr589=) n.3318C>T | ClinVar |
| 13 | g.51944253G>C | CA483894751 | ATP7B | c.*894-1699C>G (n.*894-1699C>G) c.*1843C>G (n.*1843C>G) c.2478C>G (p.Thr826=) c.3099C>G (p.Thr1033=) c.2766C>G (p.Thr922=) c.2847C>G (p.Thr949=) c.2865C>G (p.Thr955=) n.3238C>G n.3462C>G c.2034C>G (p.Thr678=) c.1809C>G (p.Thr603=) c.2904C>G (p.Thr968=) n.319C>G c.1022-1699C>G c.*200C>G (n.*200C>G) n.3843C>G n.2444C>G c.2955C>G (p.Thr985=) n.445C>G c.3003C>G (p.Thr1001=) c.3063C>G (p.Thr1021=) c.2613C>G (p.Thr871=) c.915C>G (p.Thr305=) c.877-1699C>G (n.877-1699C>G) c.2964C>G (p.Thr988=) c.3061-1699C>G (n.3061-1699C>G) c.2685C>G (p.Thr895=) c.2731-1699C>G (n.2731-1699C>G) c.1767C>G (p.Thr589=) n.3318C>G | |
| 13 | g.51944253G>T | CA483894752 | ATP7B | c.*894-1699C>A (n.*894-1699C>A) c.*1843C>A (n.*1843C>A) c.2478C>A (p.Thr826=) c.3099C>A (p.Thr1033=) c.2766C>A (p.Thr922=) c.2847C>A (p.Thr949=) c.2865C>A (p.Thr955=) n.3238C>A n.3462C>A c.2034C>A (p.Thr678=) c.1809C>A (p.Thr603=) c.2904C>A (p.Thr968=) n.319C>A c.1022-1699C>A c.*200C>A (n.*200C>A) n.3843C>A n.2444C>A c.2955C>A (p.Thr985=) n.445C>A c.3003C>A (p.Thr1001=) c.3063C>A (p.Thr1021=) c.2613C>A (p.Thr871=) c.915C>A (p.Thr305=) c.877-1699C>A (n.877-1699C>A) c.2964C>A (p.Thr988=) c.3061-1699C>A (n.3061-1699C>A) c.2685C>A (p.Thr895=) c.2731-1699C>A (n.2731-1699C>A) c.1767C>A (p.Thr589=) n.3318C>A | |
| 13 | g.51944256_51944261dup | CA2091564158 | ATP7B | c.*894-1704_*894-1699dup (n.*894-1704_*894-1699dup) c.*1838_*1843dup (n.*1838_*1843dup) c.2473_2478dup (p.Thr826_His827insIleThr) c.3094_3099dup (p.Thr1033_His1034insIleThr) c.2761_2766dup (p.Thr922_His923insIleThr) c.2842_2847dup (p.Thr949_His950insIleThr) c.2860_2865dup (p.Thr955_His956insIleThr) n.3233_3238dup n.3457_3462dup c.2029_2034dup (p.Thr678_His679insIleThr) c.1804_1809dup (p.Thr603_His604insIleThr) c.2899_2904dup (p.Thr968_His969insIleThr) n.314_319dup c.1022-1704_1022-1699dup c.*195_*200dup (n.*195_*200dup) n.3838_3843dup n.2439_2444dup c.2950_2955dup (p.Thr985_His986insIleThr) n.440_445dup c.2998_3003dup (p.Thr1001_His1002insIleThr) c.3058_3063dup (p.Thr1021_His1022insIleThr) c.2608_2613dup (p.Thr871_His872insIleThr) c.910_915dup (p.Thr305_His306insIleThr) c.877-1704_877-1699dup (n.877-1704_877-1699dup) c.2959_2964dup (p.Thr988_His989insIleThr) c.3061-1704_3061-1699dup (n.3061-1704_3061-1699dup) c.2680_2685dup (p.Thr895_His896insIleThr) c.2731-1704_2731-1699dup (n.2731-1704_2731-1699dup) c.1762_1767dup (p.Thr589_His590insIleThr) n.3313_3318dup | dbSNP |
| 13 | g.51944254G>A | CA388030475 | ATP7B | c.*894-1700C>T (n.*894-1700C>T) c.*1842C>T (n.*1842C>T) c.2477C>T (p.Thr826Ile) c.3098C>T (p.Thr1033Ile) c.2765C>T (p.Thr922Ile) c.2846C>T (p.Thr949Ile) c.2864C>T (p.Thr955Ile) n.3237C>T n.3461C>T c.2033C>T (p.Thr678Ile) c.1808C>T (p.Thr603Ile) c.2903C>T (p.Thr968Ile) n.318C>T c.1022-1700C>T c.*199C>T (n.*199C>T) n.3842C>T n.2443C>T c.2954C>T (p.Thr985Ile) n.444C>T c.3002C>T (p.Thr1001Ile) c.3062C>T (p.Thr1021Ile) c.2612C>T (p.Thr871Ile) c.914C>T (p.Thr305Ile) c.877-1700C>T (n.877-1700C>T) c.2963C>T (p.Thr988Ile) c.3061-1700C>T (n.3061-1700C>T) c.2684C>T (p.Thr895Ile) c.2731-1700C>T (n.2731-1700C>T) c.1766C>T (p.Thr589Ile) n.3317C>T | |
| 13 | g.51944254G>C | CA388030494 | ATP7B | c.*894-1700C>G (n.*894-1700C>G) c.*1842C>G (n.*1842C>G) c.2477C>G (p.Thr826Ser) c.3098C>G (p.Thr1033Ser) c.2765C>G (p.Thr922Ser) c.2846C>G (p.Thr949Ser) c.2864C>G (p.Thr955Ser) n.3237C>G n.3461C>G c.2033C>G (p.Thr678Ser) c.1808C>G (p.Thr603Ser) c.2903C>G (p.Thr968Ser) n.318C>G c.1022-1700C>G c.*199C>G (n.*199C>G) n.3842C>G n.2443C>G c.2954C>G (p.Thr985Ser) n.444C>G c.3002C>G (p.Thr1001Ser) c.3062C>G (p.Thr1021Ser) c.2612C>G (p.Thr871Ser) c.914C>G (p.Thr305Ser) c.877-1700C>G (n.877-1700C>G) c.2963C>G (p.Thr988Ser) c.3061-1700C>G (n.3061-1700C>G) c.2684C>G (p.Thr895Ser) c.2731-1700C>G (n.2731-1700C>G) c.1766C>G (p.Thr589Ser) n.3317C>G | |
| 13 | g.51944254G>T | CA388030472 | ATP7B | c.*894-1700C>A (n.*894-1700C>A) c.*1842C>A (n.*1842C>A) c.2477C>A (p.Thr826Asn) c.3098C>A (p.Thr1033Asn) c.2765C>A (p.Thr922Asn) c.2846C>A (p.Thr949Asn) c.2864C>A (p.Thr955Asn) n.3237C>A n.3461C>A c.2033C>A (p.Thr678Asn) c.1808C>A (p.Thr603Asn) c.2903C>A (p.Thr968Asn) n.318C>A c.1022-1700C>A c.*199C>A (n.*199C>A) n.3842C>A n.2443C>A c.2954C>A (p.Thr985Asn) n.444C>A c.3002C>A (p.Thr1001Asn) c.3062C>A (p.Thr1021Asn) c.2612C>A (p.Thr871Asn) c.914C>A (p.Thr305Asn) c.877-1700C>A (n.877-1700C>A) c.2963C>A (p.Thr988Asn) c.3061-1700C>A (n.3061-1700C>A) c.2684C>A (p.Thr895Asn) c.2731-1700C>A (n.2731-1700C>A) c.1766C>A (p.Thr589Asn) n.3317C>A | |
| 13 | g.51944255T>A | CA388030498 | ATP7B | c.*894-1701A>T (n.*894-1701A>T) c.*1841A>T (n.*1841A>T) c.2476A>T (p.Thr826Ser) c.3097A>T (p.Thr1033Ser) c.2764A>T (p.Thr922Ser) c.2845A>T (p.Thr949Ser) c.2863A>T (p.Thr955Ser) n.3236A>T n.3460A>T c.2032A>T (p.Thr678Ser) c.1807A>T (p.Thr603Ser) c.2902A>T (p.Thr968Ser) n.317A>T c.1022-1701A>T c.*198A>T (n.*198A>T) n.3841A>T n.2442A>T c.2953A>T (p.Thr985Ser) n.443A>T c.3001A>T (p.Thr1001Ser) c.3061A>T (p.Thr1021Ser) c.2611A>T (p.Thr871Ser) c.913A>T (p.Thr305Ser) c.877-1701A>T (n.877-1701A>T) c.2962A>T (p.Thr988Ser) c.3061-1701A>T (n.3061-1701A>T) c.2683A>T (p.Thr895Ser) c.2731-1701A>T (n.2731-1701A>T) c.1765A>T (p.Thr589Ser) n.3316A>T | |
| 13 | g.51944255T>C | CA388030499 | ATP7B | c.*894-1701A>G (n.*894-1701A>G) c.*1841A>G (n.*1841A>G) c.2476A>G (p.Thr826Ala) c.3097A>G (p.Thr1033Ala) c.2764A>G (p.Thr922Ala) c.2845A>G (p.Thr949Ala) c.2863A>G (p.Thr955Ala) n.3236A>G n.3460A>G c.2032A>G (p.Thr678Ala) c.1807A>G (p.Thr603Ala) c.2902A>G (p.Thr968Ala) n.317A>G c.1022-1701A>G c.*198A>G (n.*198A>G) n.3841A>G n.2442A>G c.2953A>G (p.Thr985Ala) n.443A>G c.3001A>G (p.Thr1001Ala) c.3061A>G (p.Thr1021Ala) c.2611A>G (p.Thr871Ala) c.913A>G (p.Thr305Ala) c.877-1701A>G (n.877-1701A>G) c.2962A>G (p.Thr988Ala) c.3061-1701A>G (n.3061-1701A>G) c.2683A>G (p.Thr895Ala) c.2731-1701A>G (n.2731-1701A>G) c.1765A>G (p.Thr589Ala) n.3316A>G | ClinVar dbSNP |
| 13 | g.51944255T>G | CA388030500 | ATP7B | c.*894-1701A>C (n.*894-1701A>C) c.*1841A>C (n.*1841A>C) c.2476A>C (p.Thr826Pro) c.3097A>C (p.Thr1033Pro) c.2764A>C (p.Thr922Pro) c.2845A>C (p.Thr949Pro) c.2863A>C (p.Thr955Pro) n.3236A>C n.3460A>C c.2032A>C (p.Thr678Pro) c.1807A>C (p.Thr603Pro) c.2902A>C (p.Thr968Pro) n.317A>C c.1022-1701A>C c.*198A>C (n.*198A>C) n.3841A>C n.2442A>C c.2953A>C (p.Thr985Pro) n.443A>C c.3001A>C (p.Thr1001Pro) c.3061A>C (p.Thr1021Pro) c.2611A>C (p.Thr871Pro) c.913A>C (p.Thr305Pro) c.877-1701A>C (n.877-1701A>C) c.2962A>C (p.Thr988Pro) c.3061-1701A>C (n.3061-1701A>C) c.2683A>C (p.Thr895Pro) c.2731-1701A>C (n.2731-1701A>C) c.1765A>C (p.Thr589Pro) n.3316A>C | |
| 13 | g.51944255T= | CA2091564166 | ATP7B | c.*894-1701A= (n.*894-1701A=) c.*1841A= (n.*1841A=) c.2476A= (p.Thr826=) c.3097A= (p.Thr1033=) c.2764A= (p.Thr922=) c.2845A= (p.Thr949=) c.2863A= (p.Thr955=) n.3236A= n.3460A= c.2032A= (p.Thr678=) c.1807A= (p.Thr603=) c.2902A= (p.Thr968=) n.317A= c.1022-1701A= c.*198A= (n.*198A=) n.3841A= n.2442A= c.2953A= (p.Thr985=) n.443A= c.3001A= (p.Thr1001=) c.3061A= (p.Thr1021=) c.2611A= (p.Thr871=) c.913A= (p.Thr305=) c.877-1701A= (n.877-1701A=) c.2962A= (p.Thr988=) c.3061-1701A= (n.3061-1701A=) c.2683A= (p.Thr895=) c.2731-1701A= (n.2731-1701A=) c.1765A= (p.Thr589=) n.3316A= | |
| 13 | g.51944256A>C | CA388030501 | ATP7B | c.*894-1702T>G (n.*894-1702T>G) c.*1840T>G (n.*1840T>G) c.2475T>G (p.Ile825Met) c.3096T>G (p.Ile1032Met) c.2763T>G (p.Ile921Met) c.2844T>G (p.Ile948Met) c.2862T>G (p.Ile954Met) n.3235T>G n.3459T>G c.2031T>G (p.Ile677Met) c.1806T>G (p.Ile602Met) c.2901T>G (p.Ile967Met) n.316T>G c.1022-1702T>G c.*197T>G (n.*197T>G) n.3840T>G n.2441T>G c.2952T>G (p.Ile984Met) n.442T>G c.3000T>G (p.Ile1000Met) c.3060T>G (p.Ile1020Met) c.2610T>G (p.Ile870Met) c.912T>G (p.Ile304Met) c.877-1702T>G (n.877-1702T>G) c.2961T>G (p.Ile987Met) c.3061-1702T>G (n.3061-1702T>G) c.2682T>G (p.Ile894Met) c.2731-1702T>G (n.2731-1702T>G) c.1764T>G (p.Ile588Met) n.3315T>G | |
| 13 | g.51944256A>G | CA483894754 | ATP7B | c.*894-1702T>C (n.*894-1702T>C) c.*1840T>C (n.*1840T>C) c.2475T>C (p.Ile825=) c.3096T>C (p.Ile1032=) c.2763T>C (p.Ile921=) c.2844T>C (p.Ile948=) c.2862T>C (p.Ile954=) n.3235T>C n.3459T>C c.2031T>C (p.Ile677=) c.1806T>C (p.Ile602=) c.2901T>C (p.Ile967=) n.316T>C c.1022-1702T>C c.*197T>C (n.*197T>C) n.3840T>C n.2441T>C c.2952T>C (p.Ile984=) n.442T>C c.3000T>C (p.Ile1000=) c.3060T>C (p.Ile1020=) c.2610T>C (p.Ile870=) c.912T>C (p.Ile304=) c.877-1702T>C (n.877-1702T>C) c.2961T>C (p.Ile987=) c.3061-1702T>C (n.3061-1702T>C) c.2682T>C (p.Ile894=) c.2731-1702T>C (n.2731-1702T>C) c.1764T>C (p.Ile588=) n.3315T>C | gnomAD v4 |
| 13 | g.51944256A>T | CA483894753 | ATP7B | c.*894-1702T>A (n.*894-1702T>A) c.*1840T>A (n.*1840T>A) c.2475T>A (p.Ile825=) c.3096T>A (p.Ile1032=) c.2763T>A (p.Ile921=) c.2844T>A (p.Ile948=) c.2862T>A (p.Ile954=) n.3235T>A n.3459T>A c.2031T>A (p.Ile677=) c.1806T>A (p.Ile602=) c.2901T>A (p.Ile967=) n.316T>A c.1022-1702T>A c.*197T>A (n.*197T>A) n.3840T>A n.2441T>A c.2952T>A (p.Ile984=) n.442T>A c.3000T>A (p.Ile1000=) c.3060T>A (p.Ile1020=) c.2610T>A (p.Ile870=) c.912T>A (p.Ile304=) c.877-1702T>A (n.877-1702T>A) c.2961T>A (p.Ile987=) c.3061-1702T>A (n.3061-1702T>A) c.2682T>A (p.Ile894=) c.2731-1702T>A (n.2731-1702T>A) c.1764T>A (p.Ile588=) n.3315T>A | |
| 13 | g.51944257A>C | CA388030504 | ATP7B | c.*894-1703T>G (n.*894-1703T>G) c.*1839T>G (n.*1839T>G) c.2474T>G (p.Ile825Ser) c.3095T>G (p.Ile1032Ser) c.2762T>G (p.Ile921Ser) c.2843T>G (p.Ile948Ser) c.2861T>G (p.Ile954Ser) n.3234T>G n.3458T>G c.2030T>G (p.Ile677Ser) c.1805T>G (p.Ile602Ser) c.2900T>G (p.Ile967Ser) n.315T>G c.1022-1703T>G c.*196T>G (n.*196T>G) n.3839T>G n.2440T>G c.2951T>G (p.Ile984Ser) n.441T>G c.2999T>G (p.Ile1000Ser) c.3059T>G (p.Ile1020Ser) c.2609T>G (p.Ile870Ser) c.911T>G (p.Ile304Ser) c.877-1703T>G (n.877-1703T>G) c.2960T>G (p.Ile987Ser) c.3061-1703T>G (n.3061-1703T>G) c.2681T>G (p.Ile894Ser) c.2731-1703T>G (n.2731-1703T>G) c.1763T>G (p.Ile588Ser) n.3314T>G | |
| 13 | g.51944257A>G | CA388030503 | ATP7B | c.*894-1703T>C (n.*894-1703T>C) c.*1839T>C (n.*1839T>C) c.2474T>C (p.Ile825Thr) c.3095T>C (p.Ile1032Thr) c.2762T>C (p.Ile921Thr) c.2843T>C (p.Ile948Thr) c.2861T>C (p.Ile954Thr) n.3234T>C n.3458T>C c.2030T>C (p.Ile677Thr) c.1805T>C (p.Ile602Thr) c.2900T>C (p.Ile967Thr) n.315T>C c.1022-1703T>C c.*196T>C (n.*196T>C) n.3839T>C n.2440T>C c.2951T>C (p.Ile984Thr) n.441T>C c.2999T>C (p.Ile1000Thr) c.3059T>C (p.Ile1020Thr) c.2609T>C (p.Ile870Thr) c.911T>C (p.Ile304Thr) c.877-1703T>C (n.877-1703T>C) c.2960T>C (p.Ile987Thr) c.3061-1703T>C (n.3061-1703T>C) c.2681T>C (p.Ile894Thr) c.2731-1703T>C (n.2731-1703T>C) c.1763T>C (p.Ile588Thr) n.3314T>C | gnomAD v4 |
| 13 | g.51944257A>T | CA388030502 | ATP7B | c.*894-1703T>A (n.*894-1703T>A) c.*1839T>A (n.*1839T>A) c.2474T>A (p.Ile825Asn) c.3095T>A (p.Ile1032Asn) c.2762T>A (p.Ile921Asn) c.2843T>A (p.Ile948Asn) c.2861T>A (p.Ile954Asn) n.3234T>A n.3458T>A c.2030T>A (p.Ile677Asn) c.1805T>A (p.Ile602Asn) c.2900T>A (p.Ile967Asn) n.315T>A c.1022-1703T>A c.*196T>A (n.*196T>A) n.3839T>A n.2440T>A c.2951T>A (p.Ile984Asn) n.441T>A c.2999T>A (p.Ile1000Asn) c.3059T>A (p.Ile1020Asn) c.2609T>A (p.Ile870Asn) c.911T>A (p.Ile304Asn) c.877-1703T>A (n.877-1703T>A) c.2960T>A (p.Ile987Asn) c.3061-1703T>A (n.3061-1703T>A) c.2681T>A (p.Ile894Asn) c.2731-1703T>A (n.2731-1703T>A) c.1763T>A (p.Ile588Asn) n.3314T>A | |
| 13 | g.51944258T>A | CA388030505 | ATP7B | c.*894-1704A>T (n.*894-1704A>T) c.*1838A>T (n.*1838A>T) c.2473A>T (p.Ile825Phe) c.3094A>T (p.Ile1032Phe) c.2761A>T (p.Ile921Phe) c.2842A>T (p.Ile948Phe) c.2860A>T (p.Ile954Phe) n.3233A>T n.3457A>T c.2029A>T (p.Ile677Phe) c.1804A>T (p.Ile602Phe) c.2899A>T (p.Ile967Phe) n.314A>T c.1022-1704A>T c.*195A>T (n.*195A>T) n.3838A>T n.2439A>T c.2950A>T (p.Ile984Phe) n.440A>T c.2998A>T (p.Ile1000Phe) c.3058A>T (p.Ile1020Phe) c.2608A>T (p.Ile870Phe) c.910A>T (p.Ile304Phe) c.877-1704A>T (n.877-1704A>T) c.2959A>T (p.Ile987Phe) c.3061-1704A>T (n.3061-1704A>T) c.2680A>T (p.Ile894Phe) c.2731-1704A>T (n.2731-1704A>T) c.1762A>T (p.Ile588Phe) n.3313A>T | |
| 13 | g.51944258T>C | CA6988810 | ATP7B | c.*894-1704A>G (n.*894-1704A>G) c.*1838A>G (n.*1838A>G) c.2473A>G (p.Ile825Val) c.3094A>G (p.Ile1032Val) c.2761A>G (p.Ile921Val) c.2842A>G (p.Ile948Val) c.2860A>G (p.Ile954Val) n.3233A>G n.3457A>G c.2029A>G (p.Ile677Val) c.1804A>G (p.Ile602Val) c.2899A>G (p.Ile967Val) n.314A>G c.1022-1704A>G c.*195A>G (n.*195A>G) n.3838A>G n.2439A>G c.2950A>G (p.Ile984Val) n.440A>G c.2998A>G (p.Ile1000Val) c.3058A>G (p.Ile1020Val) c.2608A>G (p.Ile870Val) c.910A>G (p.Ile304Val) c.877-1704A>G (n.877-1704A>G) c.2959A>G (p.Ile987Val) c.3061-1704A>G (n.3061-1704A>G) c.2680A>G (p.Ile894Val) c.2731-1704A>G (n.2731-1704A>G) c.1762A>G (p.Ile588Val) n.3313A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51944258T>G | CA388030509 | ATP7B | c.*894-1704A>C (n.*894-1704A>C) c.*1838A>C (n.*1838A>C) c.2473A>C (p.Ile825Leu) c.3094A>C (p.Ile1032Leu) c.2761A>C (p.Ile921Leu) c.2842A>C (p.Ile948Leu) c.2860A>C (p.Ile954Leu) n.3233A>C n.3457A>C c.2029A>C (p.Ile677Leu) c.1804A>C (p.Ile602Leu) c.2899A>C (p.Ile967Leu) n.314A>C c.1022-1704A>C c.*195A>C (n.*195A>C) n.3838A>C n.2439A>C c.2950A>C (p.Ile984Leu) n.440A>C c.2998A>C (p.Ile1000Leu) c.3058A>C (p.Ile1020Leu) c.2608A>C (p.Ile870Leu) c.910A>C (p.Ile304Leu) c.877-1704A>C (n.877-1704A>C) c.2959A>C (p.Ile987Leu) c.3061-1704A>C (n.3061-1704A>C) c.2680A>C (p.Ile894Leu) c.2731-1704A>C (n.2731-1704A>C) c.1762A>C (p.Ile588Leu) n.3313A>C | |
| 13 | g.51944258T= | CA2091564174 | ATP7B | c.*894-1704A= (n.*894-1704A=) c.*1838A= (n.*1838A=) c.2473A= (p.Ile825=) c.3094A= (p.Ile1032=) c.2761A= (p.Ile921=) c.2842A= (p.Ile948=) c.2860A= (p.Ile954=) n.3233A= n.3457A= c.2029A= (p.Ile677=) c.1804A= (p.Ile602=) c.2899A= (p.Ile967=) n.314A= c.1022-1704A= c.*195A= (n.*195A=) n.3838A= n.2439A= c.2950A= (p.Ile984=) n.440A= c.2998A= (p.Ile1000=) c.3058A= (p.Ile1020=) c.2608A= (p.Ile870=) c.910A= (p.Ile304=) c.877-1704A= (n.877-1704A=) c.2959A= (p.Ile987=) c.3061-1704A= (n.3061-1704A=) c.2680A= (p.Ile894=) c.2731-1704A= (n.2731-1704A=) c.1762A= (p.Ile588=) n.3313A= | |
| 13 | g.51944259G>A | CA483894755 | ATP7B | c.*894-1705C>T (n.*894-1705C>T) c.*1837C>T (n.*1837C>T) c.2472C>T (p.Thr824=) c.3093C>T (p.Thr1031=) c.2760C>T (p.Thr920=) c.2841C>T (p.Thr947=) c.2859C>T (p.Thr953=) n.3232C>T n.3456C>T c.2028C>T (p.Thr676=) c.1803C>T (p.Thr601=) c.2898C>T (p.Thr966=) n.313C>T c.1022-1705C>T c.*194C>T (n.*194C>T) n.3837C>T n.2438C>T c.2949C>T (p.Thr983=) n.439C>T c.2997C>T (p.Thr999=) c.3057C>T (p.Thr1019=) c.2607C>T (p.Thr869=) c.909C>T (p.Thr303=) c.877-1705C>T (n.877-1705C>T) c.2958C>T (p.Thr986=) c.3061-1705C>T (n.3061-1705C>T) c.2679C>T (p.Thr893=) c.2731-1705C>T (n.2731-1705C>T) c.1761C>T (p.Thr587=) n.3312C>T | |
| 13 | g.51944259G>C | CA483894756 | ATP7B | c.*894-1705C>G (n.*894-1705C>G) c.*1837C>G (n.*1837C>G) c.2472C>G (p.Thr824=) c.3093C>G (p.Thr1031=) c.2760C>G (p.Thr920=) c.2841C>G (p.Thr947=) c.2859C>G (p.Thr953=) n.3232C>G n.3456C>G c.2028C>G (p.Thr676=) c.1803C>G (p.Thr601=) c.2898C>G (p.Thr966=) n.313C>G c.1022-1705C>G c.*194C>G (n.*194C>G) n.3837C>G n.2438C>G c.2949C>G (p.Thr983=) n.439C>G c.2997C>G (p.Thr999=) c.3057C>G (p.Thr1019=) c.2607C>G (p.Thr869=) c.909C>G (p.Thr303=) c.877-1705C>G (n.877-1705C>G) c.2958C>G (p.Thr986=) c.3061-1705C>G (n.3061-1705C>G) c.2679C>G (p.Thr893=) c.2731-1705C>G (n.2731-1705C>G) c.1761C>G (p.Thr587=) n.3312C>G | gnomAD v4 |
| 13 | g.51944259G>T | CA483894757 | ATP7B | c.*894-1705C>A (n.*894-1705C>A) c.*1837C>A (n.*1837C>A) c.2472C>A (p.Thr824=) c.3093C>A (p.Thr1031=) c.2760C>A (p.Thr920=) c.2841C>A (p.Thr947=) c.2859C>A (p.Thr953=) n.3232C>A n.3456C>A c.2028C>A (p.Thr676=) c.1803C>A (p.Thr601=) c.2898C>A (p.Thr966=) n.313C>A c.1022-1705C>A c.*194C>A (n.*194C>A) n.3837C>A n.2438C>A c.2949C>A (p.Thr983=) n.439C>A c.2997C>A (p.Thr999=) c.3057C>A (p.Thr1019=) c.2607C>A (p.Thr869=) c.909C>A (p.Thr303=) c.877-1705C>A (n.877-1705C>A) c.2958C>A (p.Thr986=) c.3061-1705C>A (n.3061-1705C>A) c.2679C>A (p.Thr893=) c.2731-1705C>A (n.2731-1705C>A) c.1761C>A (p.Thr587=) n.3312C>A | COSMIC |
| 13 | g.51944260G>A | CA388030514 | ATP7B | c.*894-1706C>T (n.*894-1706C>T) c.*1836C>T (n.*1836C>T) c.2471C>T (p.Thr824Ile) c.3092C>T (p.Thr1031Ile) c.2759C>T (p.Thr920Ile) c.2840C>T (p.Thr947Ile) c.2858C>T (p.Thr953Ile) n.3231C>T n.3455C>T c.2027C>T (p.Thr676Ile) c.1802C>T (p.Thr601Ile) c.2897C>T (p.Thr966Ile) n.312C>T c.1022-1706C>T c.*193C>T (n.*193C>T) n.3836C>T n.2437C>T c.2948C>T (p.Thr983Ile) n.438C>T c.2996C>T (p.Thr999Ile) c.3056C>T (p.Thr1019Ile) c.2606C>T (p.Thr869Ile) c.908C>T (p.Thr303Ile) c.877-1706C>T (n.877-1706C>T) c.2957C>T (p.Thr986Ile) c.3061-1706C>T (n.3061-1706C>T) c.2678C>T (p.Thr893Ile) c.2731-1706C>T (n.2731-1706C>T) c.1760C>T (p.Thr587Ile) n.3311C>T | |
| 13 | g.51944260G>C | CA388030515 | ATP7B | c.*894-1706C>G (n.*894-1706C>G) c.*1836C>G (n.*1836C>G) c.2471C>G (p.Thr824Ser) c.3092C>G (p.Thr1031Ser) c.2759C>G (p.Thr920Ser) c.2840C>G (p.Thr947Ser) c.2858C>G (p.Thr953Ser) n.3231C>G n.3455C>G c.2027C>G (p.Thr676Ser) c.1802C>G (p.Thr601Ser) c.2897C>G (p.Thr966Ser) n.312C>G c.1022-1706C>G c.*193C>G (n.*193C>G) n.3836C>G n.2437C>G c.2948C>G (p.Thr983Ser) n.438C>G c.2996C>G (p.Thr999Ser) c.3056C>G (p.Thr1019Ser) c.2606C>G (p.Thr869Ser) c.908C>G (p.Thr303Ser) c.877-1706C>G (n.877-1706C>G) c.2957C>G (p.Thr986Ser) c.3061-1706C>G (n.3061-1706C>G) c.2678C>G (p.Thr893Ser) c.2731-1706C>G (n.2731-1706C>G) c.1760C>G (p.Thr587Ser) n.3311C>G | |
| 13 | g.51944260G>T | CA388030518 | ATP7B | c.*894-1706C>A (n.*894-1706C>A) c.*1836C>A (n.*1836C>A) c.2471C>A (p.Thr824Asn) c.3092C>A (p.Thr1031Asn) c.2759C>A (p.Thr920Asn) c.2840C>A (p.Thr947Asn) c.2858C>A (p.Thr953Asn) n.3231C>A n.3455C>A c.2027C>A (p.Thr676Asn) c.1802C>A (p.Thr601Asn) c.2897C>A (p.Thr966Asn) n.312C>A c.1022-1706C>A c.*193C>A (n.*193C>A) n.3836C>A n.2437C>A c.2948C>A (p.Thr983Asn) n.438C>A c.2996C>A (p.Thr999Asn) c.3056C>A (p.Thr1019Asn) c.2606C>A (p.Thr869Asn) c.908C>A (p.Thr303Asn) c.877-1706C>A (n.877-1706C>A) c.2957C>A (p.Thr986Asn) c.3061-1706C>A (n.3061-1706C>A) c.2678C>A (p.Thr893Asn) c.2731-1706C>A (n.2731-1706C>A) c.1760C>A (p.Thr587Asn) n.3311C>A | |
| 13 | g.51944261T>A | CA388030520 | ATP7B | c.*894-1707A>T (n.*894-1707A>T) c.*1835A>T (n.*1835A>T) c.2470A>T (p.Thr824Ser) c.3091A>T (p.Thr1031Ser) c.2758A>T (p.Thr920Ser) c.2839A>T (p.Thr947Ser) c.2857A>T (p.Thr953Ser) n.3230A>T n.3454A>T c.2026A>T (p.Thr676Ser) c.1801A>T (p.Thr601Ser) c.2896A>T (p.Thr966Ser) n.311A>T c.1022-1707A>T c.*192A>T (n.*192A>T) n.3835A>T n.2436A>T c.2947A>T (p.Thr983Ser) n.437A>T c.2995A>T (p.Thr999Ser) c.3055A>T (p.Thr1019Ser) c.2605A>T (p.Thr869Ser) c.907A>T (p.Thr303Ser) c.877-1707A>T (n.877-1707A>T) c.2956A>T (p.Thr986Ser) c.3061-1707A>T (n.3061-1707A>T) c.2677A>T (p.Thr893Ser) c.2731-1707A>T (n.2731-1707A>T) c.1759A>T (p.Thr587Ser) n.3310A>T | |
| 13 | g.51944261T>C | CA388030527 | ATP7B | c.*894-1707A>G (n.*894-1707A>G) c.*1835A>G (n.*1835A>G) c.2470A>G (p.Thr824Ala) c.3091A>G (p.Thr1031Ala) c.2758A>G (p.Thr920Ala) c.2839A>G (p.Thr947Ala) c.2857A>G (p.Thr953Ala) n.3230A>G n.3454A>G c.2026A>G (p.Thr676Ala) c.1801A>G (p.Thr601Ala) c.2896A>G (p.Thr966Ala) n.311A>G c.1022-1707A>G c.*192A>G (n.*192A>G) n.3835A>G n.2436A>G c.2947A>G (p.Thr983Ala) n.437A>G c.2995A>G (p.Thr999Ala) c.3055A>G (p.Thr1019Ala) c.2605A>G (p.Thr869Ala) c.907A>G (p.Thr303Ala) c.877-1707A>G (n.877-1707A>G) c.2956A>G (p.Thr986Ala) c.3061-1707A>G (n.3061-1707A>G) c.2677A>G (p.Thr893Ala) c.2731-1707A>G (n.2731-1707A>G) c.1759A>G (p.Thr587Ala) n.3310A>G | |
| 13 | g.51944261T>G | CA388030524 | ATP7B | c.*894-1707A>C (n.*894-1707A>C) c.*1835A>C (n.*1835A>C) c.2470A>C (p.Thr824Pro) c.3091A>C (p.Thr1031Pro) c.2758A>C (p.Thr920Pro) c.2839A>C (p.Thr947Pro) c.2857A>C (p.Thr953Pro) n.3230A>C n.3454A>C c.2026A>C (p.Thr676Pro) c.1801A>C (p.Thr601Pro) c.2896A>C (p.Thr966Pro) n.311A>C c.1022-1707A>C c.*192A>C (n.*192A>C) n.3835A>C n.2436A>C c.2947A>C (p.Thr983Pro) n.437A>C c.2995A>C (p.Thr999Pro) c.3055A>C (p.Thr1019Pro) c.2605A>C (p.Thr869Pro) c.907A>C (p.Thr303Pro) c.877-1707A>C (n.877-1707A>C) c.2956A>C (p.Thr986Pro) c.3061-1707A>C (n.3061-1707A>C) c.2677A>C (p.Thr893Pro) c.2731-1707A>C (n.2731-1707A>C) c.1759A>C (p.Thr587Pro) n.3310A>C | |
| 13 | g.51944262G>A | CA6988811 | ATP7B | c.*894-1708C>T (n.*894-1708C>T) c.*1834C>T (n.*1834C>T) c.2469C>T (p.Gly823=) c.3090C>T (p.Gly1030=) c.2757C>T (p.Gly919=) c.2838C>T (p.Gly946=) c.2856C>T (p.Gly952=) n.3229C>T n.3453C>T c.2025C>T (p.Gly675=) c.1800C>T (p.Gly600=) c.2895C>T (p.Gly965=) n.310C>T c.1022-1708C>T c.*191C>T (n.*191C>T) n.3834C>T n.2435C>T c.2946C>T (p.Gly982=) n.436C>T c.2994C>T (p.Gly998=) c.3054C>T (p.Gly1018=) c.2604C>T (p.Gly868=) c.906C>T (p.Gly302=) c.877-1708C>T (n.877-1708C>T) c.2955C>T (p.Gly985=) c.3061-1708C>T (n.3061-1708C>T) c.2676C>T (p.Gly892=) c.2731-1708C>T (n.2731-1708C>T) c.1758C>T (p.Gly586=) n.3309C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51944262G>C | CA483894759 | ATP7B | c.*894-1708C>G (n.*894-1708C>G) c.*1834C>G (n.*1834C>G) c.2469C>G (p.Gly823=) c.3090C>G (p.Gly1030=) c.2757C>G (p.Gly919=) c.2838C>G (p.Gly946=) c.2856C>G (p.Gly952=) n.3229C>G n.3453C>G c.2025C>G (p.Gly675=) c.1800C>G (p.Gly600=) c.2895C>G (p.Gly965=) n.310C>G c.1022-1708C>G c.*191C>G (n.*191C>G) n.3834C>G n.2435C>G c.2946C>G (p.Gly982=) n.436C>G c.2994C>G (p.Gly998=) c.3054C>G (p.Gly1018=) c.2604C>G (p.Gly868=) c.906C>G (p.Gly302=) c.877-1708C>G (n.877-1708C>G) c.2955C>G (p.Gly985=) c.3061-1708C>G (n.3061-1708C>G) c.2676C>G (p.Gly892=) c.2731-1708C>G (n.2731-1708C>G) c.1758C>G (p.Gly586=) n.3309C>G | |
| 13 | g.51944262G= | CA2091564179 | ATP7B | c.*894-1708C= (n.*894-1708C=) c.*1834C= (n.*1834C=) c.2469C= (p.Gly823=) c.3090C= (p.Gly1030=) c.2757C= (p.Gly919=) c.2838C= (p.Gly946=) c.2856C= (p.Gly952=) n.3229C= n.3453C= c.2025C= (p.Gly675=) c.1800C= (p.Gly600=) c.2895C= (p.Gly965=) n.310C= c.1022-1708C= c.*191C= (n.*191C=) n.3834C= n.2435C= c.2946C= (p.Gly982=) n.436C= c.2994C= (p.Gly998=) c.3054C= (p.Gly1018=) c.2604C= (p.Gly868=) c.906C= (p.Gly302=) c.877-1708C= (n.877-1708C=) c.2955C= (p.Gly985=) c.3061-1708C= (n.3061-1708C=) c.2676C= (p.Gly892=) c.2731-1708C= (n.2731-1708C=) c.1758C= (p.Gly586=) n.3309C= | |
| 13 | g.51944262G>T | CA483894758 | ATP7B | c.*894-1708C>A (n.*894-1708C>A) c.*1834C>A (n.*1834C>A) c.2469C>A (p.Gly823=) c.3090C>A (p.Gly1030=) c.2757C>A (p.Gly919=) c.2838C>A (p.Gly946=) c.2856C>A (p.Gly952=) n.3229C>A n.3453C>A c.2025C>A (p.Gly675=) c.1800C>A (p.Gly600=) c.2895C>A (p.Gly965=) n.310C>A c.1022-1708C>A c.*191C>A (n.*191C>A) n.3834C>A n.2435C>A c.2946C>A (p.Gly982=) n.436C>A c.2994C>A (p.Gly998=) c.3054C>A (p.Gly1018=) c.2604C>A (p.Gly868=) c.906C>A (p.Gly302=) c.877-1708C>A (n.877-1708C>A) c.2955C>A (p.Gly985=) c.3061-1708C>A (n.3061-1708C>A) c.2676C>A (p.Gly892=) c.2731-1708C>A (n.2731-1708C>A) c.1758C>A (p.Gly586=) n.3309C>A | |
| 13 | g.51944263C>A | CA388030533 | ATP7B | c.*894-1709G>T (n.*894-1709G>T) c.*1833G>T (n.*1833G>T) c.2468G>T (p.Gly823Val) c.3089G>T (p.Gly1030Val) c.2756G>T (p.Gly919Val) c.2837G>T (p.Gly946Val) c.2855G>T (p.Gly952Val) n.3228G>T n.3452G>T c.2024G>T (p.Gly675Val) c.1799G>T (p.Gly600Val) c.2894G>T (p.Gly965Val) n.309G>T c.1022-1709G>T c.*190G>T (n.*190G>T) n.3833G>T n.2434G>T c.2945G>T (p.Gly982Val) n.435G>T c.2993G>T (p.Gly998Val) c.3053G>T (p.Gly1018Val) c.2603G>T (p.Gly868Val) c.905G>T (p.Gly302Val) c.877-1709G>T (n.877-1709G>T) c.2954G>T (p.Gly985Val) c.3061-1709G>T (n.3061-1709G>T) c.2675G>T (p.Gly892Val) c.2731-1709G>T (n.2731-1709G>T) c.1757G>T (p.Gly586Val) n.3308G>T | ClinVar |
| 13 | g.51944263C>G | CA388030528 | ATP7B | c.*894-1709G>C (n.*894-1709G>C) c.*1833G>C (n.*1833G>C) c.2468G>C (p.Gly823Ala) c.3089G>C (p.Gly1030Ala) c.2756G>C (p.Gly919Ala) c.2837G>C (p.Gly946Ala) c.2855G>C (p.Gly952Ala) n.3228G>C n.3452G>C c.2024G>C (p.Gly675Ala) c.1799G>C (p.Gly600Ala) c.2894G>C (p.Gly965Ala) n.309G>C c.1022-1709G>C c.*190G>C (n.*190G>C) n.3833G>C n.2434G>C c.2945G>C (p.Gly982Ala) n.435G>C c.2993G>C (p.Gly998Ala) c.3053G>C (p.Gly1018Ala) c.2603G>C (p.Gly868Ala) c.905G>C (p.Gly302Ala) c.877-1709G>C (n.877-1709G>C) c.2954G>C (p.Gly985Ala) c.3061-1709G>C (n.3061-1709G>C) c.2675G>C (p.Gly892Ala) c.2731-1709G>C (n.2731-1709G>C) c.1757G>C (p.Gly586Ala) n.3308G>C | |
| 13 | g.51944263C>T | CA388030529 | ATP7B | c.*894-1709G>A (n.*894-1709G>A) c.*1833G>A (n.*1833G>A) c.2468G>A (p.Gly823Asp) c.3089G>A (p.Gly1030Asp) c.2756G>A (p.Gly919Asp) c.2837G>A (p.Gly946Asp) c.2855G>A (p.Gly952Asp) n.3228G>A n.3452G>A c.2024G>A (p.Gly675Asp) c.1799G>A (p.Gly600Asp) c.2894G>A (p.Gly965Asp) n.309G>A c.1022-1709G>A c.*190G>A (n.*190G>A) n.3833G>A n.2434G>A c.2945G>A (p.Gly982Asp) n.435G>A c.2993G>A (p.Gly998Asp) c.3053G>A (p.Gly1018Asp) c.2603G>A (p.Gly868Asp) c.905G>A (p.Gly302Asp) c.877-1709G>A (n.877-1709G>A) c.2954G>A (p.Gly985Asp) c.3061-1709G>A (n.3061-1709G>A) c.2675G>A (p.Gly892Asp) c.2731-1709G>A (n.2731-1709G>A) c.1757G>A (p.Gly586Asp) n.3308G>A | ClinVar dbSNP |
| 13 | g.51944264C>A | CA388030543 | ATP7B | c.*894-1710G>T (n.*894-1710G>T) c.*1832G>T (n.*1832G>T) c.2467G>T (p.Gly823Cys) c.3088G>T (p.Gly1030Cys) c.2755G>T (p.Gly919Cys) c.2836G>T (p.Gly946Cys) c.2854G>T (p.Gly952Cys) n.3227G>T n.3451G>T c.2023G>T (p.Gly675Cys) c.1798G>T (p.Gly600Cys) c.2893G>T (p.Gly965Cys) n.308G>T c.1022-1710G>T c.*189G>T (n.*189G>T) n.3832G>T n.2433G>T c.2944G>T (p.Gly982Cys) n.434G>T c.2992G>T (p.Gly998Cys) c.3052G>T (p.Gly1018Cys) c.2602G>T (p.Gly868Cys) c.904G>T (p.Gly302Cys) c.877-1710G>T (n.877-1710G>T) c.2953G>T (p.Gly985Cys) c.3061-1710G>T (n.3061-1710G>T) c.2674G>T (p.Gly892Cys) c.2731-1710G>T (n.2731-1710G>T) c.1756G>T (p.Gly586Cys) n.3307G>T | |
| 13 | g.51944264C= | CA2091564186 | ATP7B | c.*894-1710G= (n.*894-1710G=) c.*1832G= (n.*1832G=) c.2467G= (p.Gly823=) c.3088G= (p.Gly1030=) c.2755G= (p.Gly919=) c.2836G= (p.Gly946=) c.2854G= (p.Gly952=) n.3227G= n.3451G= c.2023G= (p.Gly675=) c.1798G= (p.Gly600=) c.2893G= (p.Gly965=) n.308G= c.1022-1710G= c.*189G= (n.*189G=) n.3832G= n.2433G= c.2944G= (p.Gly982=) n.434G= c.2992G= (p.Gly998=) c.3052G= (p.Gly1018=) c.2602G= (p.Gly868=) c.904G= (p.Gly302=) c.877-1710G= (n.877-1710G=) c.2953G= (p.Gly985=) c.3061-1710G= (n.3061-1710G=) c.2674G= (p.Gly892=) c.2731-1710G= (n.2731-1710G=) c.1756G= (p.Gly586=) n.3307G= | |
| 13 | g.51944264C>G | CA388030547 | ATP7B | c.*894-1710G>C (n.*894-1710G>C) c.*1832G>C (n.*1832G>C) c.2467G>C (p.Gly823Arg) c.3088G>C (p.Gly1030Arg) c.2755G>C (p.Gly919Arg) c.2836G>C (p.Gly946Arg) c.2854G>C (p.Gly952Arg) n.3227G>C n.3451G>C c.2023G>C (p.Gly675Arg) c.1798G>C (p.Gly600Arg) c.2893G>C (p.Gly965Arg) n.308G>C c.1022-1710G>C c.*189G>C (n.*189G>C) n.3832G>C n.2433G>C c.2944G>C (p.Gly982Arg) n.434G>C c.2992G>C (p.Gly998Arg) c.3052G>C (p.Gly1018Arg) c.2602G>C (p.Gly868Arg) c.904G>C (p.Gly302Arg) c.877-1710G>C (n.877-1710G>C) c.2953G>C (p.Gly985Arg) c.3061-1710G>C (n.3061-1710G>C) c.2674G>C (p.Gly892Arg) c.2731-1710G>C (n.2731-1710G>C) c.1756G>C (p.Gly586Arg) n.3307G>C | |
| 13 | g.51944264C>T | CA388030552 | ATP7B | c.*894-1710G>A (n.*894-1710G>A) c.*1832G>A (n.*1832G>A) c.2467G>A (p.Gly823Ser) c.3088G>A (p.Gly1030Ser) c.2755G>A (p.Gly919Ser) c.2836G>A (p.Gly946Ser) c.2854G>A (p.Gly952Ser) n.3227G>A n.3451G>A c.2023G>A (p.Gly675Ser) c.1798G>A (p.Gly600Ser) c.2893G>A (p.Gly965Ser) n.308G>A c.1022-1710G>A c.*189G>A (n.*189G>A) n.3832G>A n.2433G>A c.2944G>A (p.Gly982Ser) n.434G>A c.2992G>A (p.Gly998Ser) c.3052G>A (p.Gly1018Ser) c.2602G>A (p.Gly868Ser) c.904G>A (p.Gly302Ser) c.877-1710G>A (n.877-1710G>A) c.2953G>A (p.Gly985Ser) c.3061-1710G>A (n.3061-1710G>A) c.2674G>A (p.Gly892Ser) c.2731-1710G>A (n.2731-1710G>A) c.1756G>A (p.Gly586Ser) n.3307G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.51944265del | CA2695218753 | ATP7B | c.*894-1711del (n.*894-1711del) c.*1831del (n.*1831del) c.2466del (p.Gly823AlafsTer?) c.3087del (p.Gly1030AlafsTer?) c.2754del (p.Gly919AlafsTer?) c.2835del (p.Gly946AlafsTer?) c.2853del (p.Gly952AlafsTer?) n.3226del n.3450del c.2022del (p.Gly675AlafsTer?) c.1797del (p.Gly600AlafsTer?) c.2892del (p.Gly965AlafsTer?) n.307del c.1022-1711del c.*188del (n.*188del) n.3831del n.2432del c.2943del (p.Gly982AlafsTer?) n.433del c.2991del (p.Gly998AlafsTer?) c.3051del (p.Gly1018AlafsTer?) c.2601del (p.Gly868AlafsTer?) c.903del (p.Gly302AlafsTer?) c.877-1711del (n.877-1711del) c.2952del (p.Gly985AlafsTer?) c.3061-1711del (n.3061-1711del) c.2673del (p.Gly892AlafsTer?) c.2731-1711del (n.2731-1711del) c.1755del (p.Gly586AlafsTer?) n.3306del | |
| 13 | g.51944265A>C | CA483894760 | ATP7B | c.*894-1711T>G (n.*894-1711T>G) c.*1831T>G (n.*1831T>G) c.2466T>G (p.Thr822=) c.3087T>G (p.Thr1029=) c.2754T>G (p.Thr918=) c.2835T>G (p.Thr945=) c.2853T>G (p.Thr951=) n.3226T>G n.3450T>G c.2022T>G (p.Thr674=) c.1797T>G (p.Thr599=) c.2892T>G (p.Thr964=) n.307T>G c.1022-1711T>G c.*188T>G (n.*188T>G) n.3831T>G n.2432T>G c.2943T>G (p.Thr981=) n.433T>G c.2991T>G (p.Thr997=) c.3051T>G (p.Thr1017=) c.2601T>G (p.Thr867=) c.903T>G (p.Thr301=) c.877-1711T>G (n.877-1711T>G) c.2952T>G (p.Thr984=) c.3061-1711T>G (n.3061-1711T>G) c.2673T>G (p.Thr891=) c.2731-1711T>G (n.2731-1711T>G) c.1755T>G (p.Thr585=) n.3306T>G | |
| 13 | g.51944265A>G | CA483894761 | ATP7B | c.*894-1711T>C (n.*894-1711T>C) c.*1831T>C (n.*1831T>C) c.2466T>C (p.Thr822=) c.3087T>C (p.Thr1029=) c.2754T>C (p.Thr918=) c.2835T>C (p.Thr945=) c.2853T>C (p.Thr951=) n.3226T>C n.3450T>C c.2022T>C (p.Thr674=) c.1797T>C (p.Thr599=) c.2892T>C (p.Thr964=) n.307T>C c.1022-1711T>C c.*188T>C (n.*188T>C) n.3831T>C n.2432T>C c.2943T>C (p.Thr981=) n.433T>C c.2991T>C (p.Thr997=) c.3051T>C (p.Thr1017=) c.2601T>C (p.Thr867=) c.903T>C (p.Thr301=) c.877-1711T>C (n.877-1711T>C) c.2952T>C (p.Thr984=) c.3061-1711T>C (n.3061-1711T>C) c.2673T>C (p.Thr891=) c.2731-1711T>C (n.2731-1711T>C) c.1755T>C (p.Thr585=) n.3306T>C | |
| 13 | g.51944265A>T | CA483894762 | ATP7B | c.*894-1711T>A (n.*894-1711T>A) c.*1831T>A (n.*1831T>A) c.2466T>A (p.Thr822=) c.3087T>A (p.Thr1029=) c.2754T>A (p.Thr918=) c.2835T>A (p.Thr945=) c.2853T>A (p.Thr951=) n.3226T>A n.3450T>A c.2022T>A (p.Thr674=) c.1797T>A (p.Thr599=) c.2892T>A (p.Thr964=) n.307T>A c.1022-1711T>A c.*188T>A (n.*188T>A) n.3831T>A n.2432T>A c.2943T>A (p.Thr981=) n.433T>A c.2991T>A (p.Thr997=) c.3051T>A (p.Thr1017=) c.2601T>A (p.Thr867=) c.903T>A (p.Thr301=) c.877-1711T>A (n.877-1711T>A) c.2952T>A (p.Thr984=) c.3061-1711T>A (n.3061-1711T>A) c.2673T>A (p.Thr891=) c.2731-1711T>A (n.2731-1711T>A) c.1755T>A (p.Thr585=) n.3306T>A |