WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51946336_51946351del | CA2695218763 | ATP7B | c.*829_*844del (n.*829_*844del) c.*1740_*1755del (n.*1740_*1755del) c.2375_2390del (p.Thr792ArgfsTer18) c.2996_3011del (p.Thr999ArgfsTer18) c.2663_2678del (p.Thr888ArgfsTer18) c.2744_2759del (p.Thr915ArgfsTer18) c.2762_2777del (p.Thr921ArgfsTer18) n.1143_1158del n.3359_3374del c.1931_1946del (p.Thr644ArgfsTer18) c.1706_1721del (p.Thr569ArgfsTer18) c.2866-2057_2866-2042del (n.2866-2057_2866-2042del) n.216_231del c.957_972del c.*97_*112del (n.*97_*112del) n.3740_3755del n.2341_2356del c.2852_2867del (p.Thr951ArgfsTer18) n.342_357del c.2900_2915del (p.Thr967ArgfsTer18) c.2960_2975del (p.Thr987ArgfsTer18) c.2510_2525del (p.Thr837ArgfsTer18) c.812_827del (p.Thr271ArgfsTer18) c.812_827del (p.Thr271ArgfsTer?) c.2861_2876del (p.Thr954ArgfsTer18) c.2996_3011del (p.Thr999ArgfsTer?) c.2582_2597del (p.Thr861ArgfsTer18) c.2730+3659_2730+3674del (n.2730+3659_2730+3674del) c.1664_1679del (p.Thr555ArgfsTer18) n.3215_3230del | |
| 13 | g.51946350G>A | CA6988843 | ATP7B | c.*827C>T (n.*827C>T) c.*1738C>T (n.*1738C>T) c.2373C>T (p.Gly791=) c.2994C>T (p.Gly998=) c.2661C>T (p.Gly887=) c.2742C>T (p.Gly914=) c.2760C>T (p.Gly920=) n.1141C>T n.3357C>T c.1929C>T (p.Gly643=) c.1704C>T (p.Gly568=) c.2866-2059C>T (n.2866-2059C>T) n.214C>T c.955C>T c.*95C>T (n.*95C>T) n.3738C>T n.2339C>T c.2850C>T (p.Gly950=) n.340C>T c.2898C>T (p.Gly966=) c.2958C>T (p.Gly986=) c.2508C>T (p.Gly836=) c.810C>T (p.Gly270=) c.2859C>T (p.Gly953=) c.2580C>T (p.Gly860=) c.2730+3657C>T (n.2730+3657C>T) c.1662C>T (p.Gly554=) n.3213C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51946350G>C | CA483894906 | ATP7B | c.*827C>G (n.*827C>G) c.*1738C>G (n.*1738C>G) c.2373C>G (p.Gly791=) c.2994C>G (p.Gly998=) c.2661C>G (p.Gly887=) c.2742C>G (p.Gly914=) c.2760C>G (p.Gly920=) n.1141C>G n.3357C>G c.1929C>G (p.Gly643=) c.1704C>G (p.Gly568=) c.2866-2059C>G (n.2866-2059C>G) n.214C>G c.955C>G c.*95C>G (n.*95C>G) n.3738C>G n.2339C>G c.2850C>G (p.Gly950=) n.340C>G c.2898C>G (p.Gly966=) c.2958C>G (p.Gly986=) c.2508C>G (p.Gly836=) c.810C>G (p.Gly270=) c.2859C>G (p.Gly953=) c.2580C>G (p.Gly860=) c.2730+3657C>G (n.2730+3657C>G) c.1662C>G (p.Gly554=) n.3213C>G | |
| 13 | g.51946350G= | CA2091566156 | ATP7B | c.*827C= (n.*827C=) c.*1738C= (n.*1738C=) c.2373C= (p.Gly791=) c.2994C= (p.Gly998=) c.2661C= (p.Gly887=) c.2742C= (p.Gly914=) c.2760C= (p.Gly920=) n.1141C= n.3357C= c.1929C= (p.Gly643=) c.1704C= (p.Gly568=) c.2866-2059C= (n.2866-2059C=) n.214C= c.955C= c.*95C= (n.*95C=) n.3738C= n.2339C= c.2850C= (p.Gly950=) n.340C= c.2898C= (p.Gly966=) c.2958C= (p.Gly986=) c.2508C= (p.Gly836=) c.810C= (p.Gly270=) c.2859C= (p.Gly953=) c.2580C= (p.Gly860=) c.2730+3657C= (n.2730+3657C=) c.1662C= (p.Gly554=) n.3213C= | |
| 13 | g.51946350G>T | CA483894908 | ATP7B | c.*827C>A (n.*827C>A) c.*1738C>A (n.*1738C>A) c.2373C>A (p.Gly791=) c.2994C>A (p.Gly998=) c.2661C>A (p.Gly887=) c.2742C>A (p.Gly914=) c.2760C>A (p.Gly920=) n.1141C>A n.3357C>A c.1929C>A (p.Gly643=) c.1704C>A (p.Gly568=) c.2866-2059C>A (n.2866-2059C>A) n.214C>A c.955C>A c.*95C>A (n.*95C>A) n.3738C>A n.2339C>A c.2850C>A (p.Gly950=) n.340C>A c.2898C>A (p.Gly966=) c.2958C>A (p.Gly986=) c.2508C>A (p.Gly836=) c.810C>A (p.Gly270=) c.2859C>A (p.Gly953=) c.2580C>A (p.Gly860=) c.2730+3657C>A (n.2730+3657C>A) c.1662C>A (p.Gly554=) n.3213C>A | |
| 13 | g.51946351C>A | CA388032104 | ATP7B | c.*826G>T (n.*826G>T) c.*1737G>T (n.*1737G>T) c.2372G>T (p.Gly791Val) c.2993G>T (p.Gly998Val) c.2660G>T (p.Gly887Val) c.2741G>T (p.Gly914Val) c.2759G>T (p.Gly920Val) n.1140G>T n.3356G>T c.1928G>T (p.Gly643Val) c.1703G>T (p.Gly568Val) c.2866-2060G>T (n.2866-2060G>T) n.213G>T c.954G>T c.*94G>T (n.*94G>T) n.3737G>T n.2338G>T c.2849G>T (p.Gly950Val) n.339G>T c.2897G>T (p.Gly966Val) c.2957G>T (p.Gly986Val) c.2507G>T (p.Gly836Val) c.809G>T (p.Gly270Val) c.2858G>T (p.Gly953Val) c.2579G>T (p.Gly860Val) c.2730+3656G>T (n.2730+3656G>T) c.1661G>T (p.Gly554Val) n.3212G>T | gnomAD v4 |
| 13 | g.51946351C>G | CA388032106 | ATP7B | c.*826G>C (n.*826G>C) c.*1737G>C (n.*1737G>C) c.2372G>C (p.Gly791Ala) c.2993G>C (p.Gly998Ala) c.2660G>C (p.Gly887Ala) c.2741G>C (p.Gly914Ala) c.2759G>C (p.Gly920Ala) n.1140G>C n.3356G>C c.1928G>C (p.Gly643Ala) c.1703G>C (p.Gly568Ala) c.2866-2060G>C (n.2866-2060G>C) n.213G>C c.954G>C c.*94G>C (n.*94G>C) n.3737G>C n.2338G>C c.2849G>C (p.Gly950Ala) n.339G>C c.2897G>C (p.Gly966Ala) c.2957G>C (p.Gly986Ala) c.2507G>C (p.Gly836Ala) c.809G>C (p.Gly270Ala) c.2858G>C (p.Gly953Ala) c.2579G>C (p.Gly860Ala) c.2730+3656G>C (n.2730+3656G>C) c.1661G>C (p.Gly554Ala) n.3212G>C | gnomAD v4 |
| 13 | g.51946351C>T | CA388032107 | ATP7B | c.*826G>A (n.*826G>A) c.*1737G>A (n.*1737G>A) c.2372G>A (p.Gly791Asp) c.2993G>A (p.Gly998Asp) c.2660G>A (p.Gly887Asp) c.2741G>A (p.Gly914Asp) c.2759G>A (p.Gly920Asp) n.1140G>A n.3356G>A c.1928G>A (p.Gly643Asp) c.1703G>A (p.Gly568Asp) c.2866-2060G>A (n.2866-2060G>A) n.213G>A c.954G>A c.*94G>A (n.*94G>A) n.3737G>A n.2338G>A c.2849G>A (p.Gly950Asp) n.339G>A c.2897G>A (p.Gly966Asp) c.2957G>A (p.Gly986Asp) c.2507G>A (p.Gly836Asp) c.809G>A (p.Gly270Asp) c.2858G>A (p.Gly953Asp) c.2579G>A (p.Gly860Asp) c.2730+3656G>A (n.2730+3656G>A) c.1661G>A (p.Gly554Asp) n.3212G>A | |
| 13 | g.51946352C>A | CA388032110 | ATP7B | c.*825G>T (n.*825G>T) c.*1736G>T (n.*1736G>T) c.2371G>T (p.Gly791Cys) c.2992G>T (p.Gly998Cys) c.2659G>T (p.Gly887Cys) c.2740G>T (p.Gly914Cys) c.2758G>T (p.Gly920Cys) n.1139G>T n.3355G>T c.1927G>T (p.Gly643Cys) c.1702G>T (p.Gly568Cys) c.2866-2061G>T (n.2866-2061G>T) n.212G>T c.953G>T c.*93G>T (n.*93G>T) n.3736G>T n.2337G>T c.2848G>T (p.Gly950Cys) n.338G>T c.2896G>T (p.Gly966Cys) c.2956G>T (p.Gly986Cys) c.2506G>T (p.Gly836Cys) c.808G>T (p.Gly270Cys) c.2857G>T (p.Gly953Cys) c.2578G>T (p.Gly860Cys) c.2730+3655G>T (n.2730+3655G>T) c.1660G>T (p.Gly554Cys) n.3211G>T | |
| 13 | g.51946352C>G | CA388032114 | ATP7B | c.*825G>C (n.*825G>C) c.*1736G>C (n.*1736G>C) c.2371G>C (p.Gly791Arg) c.2992G>C (p.Gly998Arg) c.2659G>C (p.Gly887Arg) c.2740G>C (p.Gly914Arg) c.2758G>C (p.Gly920Arg) n.1139G>C n.3355G>C c.1927G>C (p.Gly643Arg) c.1702G>C (p.Gly568Arg) c.2866-2061G>C (n.2866-2061G>C) n.212G>C c.953G>C c.*93G>C (n.*93G>C) n.3736G>C n.2337G>C c.2848G>C (p.Gly950Arg) n.338G>C c.2896G>C (p.Gly966Arg) c.2956G>C (p.Gly986Arg) c.2506G>C (p.Gly836Arg) c.808G>C (p.Gly270Arg) c.2857G>C (p.Gly953Arg) c.2578G>C (p.Gly860Arg) c.2730+3655G>C (n.2730+3655G>C) c.1660G>C (p.Gly554Arg) n.3211G>C | |
| 13 | g.51946352C>T | CA388032117 | ATP7B | c.*825G>A (n.*825G>A) c.*1736G>A (n.*1736G>A) c.2371G>A (p.Gly791Ser) c.2992G>A (p.Gly998Ser) c.2659G>A (p.Gly887Ser) c.2740G>A (p.Gly914Ser) c.2758G>A (p.Gly920Ser) n.1139G>A n.3355G>A c.1927G>A (p.Gly643Ser) c.1702G>A (p.Gly568Ser) c.2866-2061G>A (n.2866-2061G>A) n.212G>A c.953G>A c.*93G>A (n.*93G>A) n.3736G>A n.2337G>A c.2848G>A (p.Gly950Ser) n.338G>A c.2896G>A (p.Gly966Ser) c.2956G>A (p.Gly986Ser) c.2506G>A (p.Gly836Ser) c.808G>A (p.Gly270Ser) c.2857G>A (p.Gly953Ser) c.2578G>A (p.Gly860Ser) c.2730+3655G>A (n.2730+3655G>A) c.1660G>A (p.Gly554Ser) n.3211G>A | gnomAD v4 |
| 13 | g.51946353C>A | CA483894911 | ATP7B | c.*824G>T (n.*824G>T) c.*1735G>T (n.*1735G>T) c.2370G>T (p.Val790=) c.2991G>T (p.Val997=) c.2658G>T (p.Val886=) c.2739G>T (p.Val913=) c.2757G>T (p.Val919=) n.1138G>T n.3354G>T c.1926G>T (p.Val642=) c.1701G>T (p.Val567=) c.2866-2062G>T (n.2866-2062G>T) n.211G>T c.952G>T c.*92G>T (n.*92G>T) n.3735G>T n.2336G>T c.2847G>T (p.Val949=) n.337G>T c.2895G>T (p.Val965=) c.2955G>T (p.Val985=) c.2505G>T (p.Val835=) c.807G>T (p.Val269=) c.2856G>T (p.Val952=) c.2577G>T (p.Val859=) c.2730+3654G>T (n.2730+3654G>T) c.1659G>T (p.Val553=) n.3210G>T | ClinVar |
| 13 | g.51946353C>G | CA483894912 | ATP7B | c.*824G>C (n.*824G>C) c.*1735G>C (n.*1735G>C) c.2370G>C (p.Val790=) c.2991G>C (p.Val997=) c.2658G>C (p.Val886=) c.2739G>C (p.Val913=) c.2757G>C (p.Val919=) n.1138G>C n.3354G>C c.1926G>C (p.Val642=) c.1701G>C (p.Val567=) c.2866-2062G>C (n.2866-2062G>C) n.211G>C c.952G>C c.*92G>C (n.*92G>C) n.3735G>C n.2336G>C c.2847G>C (p.Val949=) n.337G>C c.2895G>C (p.Val965=) c.2955G>C (p.Val985=) c.2505G>C (p.Val835=) c.807G>C (p.Val269=) c.2856G>C (p.Val952=) c.2577G>C (p.Val859=) c.2730+3654G>C (n.2730+3654G>C) c.1659G>C (p.Val553=) n.3210G>C | |
| 13 | g.51946353C>T | CA483894910 | ATP7B | c.*824G>A (n.*824G>A) c.*1735G>A (n.*1735G>A) c.2370G>A (p.Val790=) c.2991G>A (p.Val997=) c.2658G>A (p.Val886=) c.2739G>A (p.Val913=) c.2757G>A (p.Val919=) n.1138G>A n.3354G>A c.1926G>A (p.Val642=) c.1701G>A (p.Val567=) c.2866-2062G>A (n.2866-2062G>A) n.211G>A c.952G>A c.*92G>A (n.*92G>A) n.3735G>A n.2336G>A c.2847G>A (p.Val949=) n.337G>A c.2895G>A (p.Val965=) c.2955G>A (p.Val985=) c.2505G>A (p.Val835=) c.807G>A (p.Val269=) c.2856G>A (p.Val952=) c.2577G>A (p.Val859=) c.2730+3654G>A (n.2730+3654G>A) c.1659G>A (p.Val553=) n.3210G>A | |
| 13 | g.51946354A= | CA2091566157 | ATP7B | c.*823T= (n.*823T=) c.*1734T= (n.*1734T=) c.2369T= (p.Val790=) c.2990T= (p.Val997=) c.2657T= (p.Val886=) c.2738T= (p.Val913=) c.2756T= (p.Val919=) n.1137T= n.3353T= c.1925T= (p.Val642=) c.1700T= (p.Val567=) c.2866-2063T= (n.2866-2063T=) n.210T= c.951T= c.*91T= (n.*91T=) n.3734T= n.2335T= c.2846T= (p.Val949=) n.336T= c.2894T= (p.Val965=) c.2954T= (p.Val985=) c.2504T= (p.Val835=) c.806T= (p.Val269=) c.2855T= (p.Val952=) c.2576T= (p.Val859=) c.2730+3653T= (n.2730+3653T=) c.1658T= (p.Val553=) n.3209T= | |
| 13 | g.51946354A>C | CA388032119 | ATP7B | c.*823T>G (n.*823T>G) c.*1734T>G (n.*1734T>G) c.2369T>G (p.Val790Gly) c.2990T>G (p.Val997Gly) c.2657T>G (p.Val886Gly) c.2738T>G (p.Val913Gly) c.2756T>G (p.Val919Gly) n.1137T>G n.3353T>G c.1925T>G (p.Val642Gly) c.1700T>G (p.Val567Gly) c.2866-2063T>G (n.2866-2063T>G) n.210T>G c.951T>G c.*91T>G (n.*91T>G) n.3734T>G n.2335T>G c.2846T>G (p.Val949Gly) n.336T>G c.2894T>G (p.Val965Gly) c.2954T>G (p.Val985Gly) c.2504T>G (p.Val835Gly) c.806T>G (p.Val269Gly) c.2855T>G (p.Val952Gly) c.2576T>G (p.Val859Gly) c.2730+3653T>G (n.2730+3653T>G) c.1658T>G (p.Val553Gly) n.3209T>G | dbSNP |
| 13 | g.51946354A>G | CA388032122 | ATP7B | c.*823T>C (n.*823T>C) c.*1734T>C (n.*1734T>C) c.2369T>C (p.Val790Ala) c.2990T>C (p.Val997Ala) c.2657T>C (p.Val886Ala) c.2738T>C (p.Val913Ala) c.2756T>C (p.Val919Ala) n.1137T>C n.3353T>C c.1925T>C (p.Val642Ala) c.1700T>C (p.Val567Ala) c.2866-2063T>C (n.2866-2063T>C) n.210T>C c.951T>C c.*91T>C (n.*91T>C) n.3734T>C n.2335T>C c.2846T>C (p.Val949Ala) n.336T>C c.2894T>C (p.Val965Ala) c.2954T>C (p.Val985Ala) c.2504T>C (p.Val835Ala) c.806T>C (p.Val269Ala) c.2855T>C (p.Val952Ala) c.2576T>C (p.Val859Ala) c.2730+3653T>C (n.2730+3653T>C) c.1658T>C (p.Val553Ala) n.3209T>C | |
| 13 | g.51946354A>T | CA388032124 | ATP7B | c.*823T>A (n.*823T>A) c.*1734T>A (n.*1734T>A) c.2369T>A (p.Val790Glu) c.2990T>A (p.Val997Glu) c.2657T>A (p.Val886Glu) c.2738T>A (p.Val913Glu) c.2756T>A (p.Val919Glu) n.1137T>A n.3353T>A c.1925T>A (p.Val642Glu) c.1700T>A (p.Val567Glu) c.2866-2063T>A (n.2866-2063T>A) n.210T>A c.951T>A c.*91T>A (n.*91T>A) n.3734T>A n.2335T>A c.2846T>A (p.Val949Glu) n.336T>A c.2894T>A (p.Val965Glu) c.2954T>A (p.Val985Glu) c.2504T>A (p.Val835Glu) c.806T>A (p.Val269Glu) c.2855T>A (p.Val952Glu) c.2576T>A (p.Val859Glu) c.2730+3653T>A (n.2730+3653T>A) c.1658T>A (p.Val553Glu) n.3209T>A | |
| 13 | g.51946355C>A | CA388032126 | ATP7B | c.*822G>T (n.*822G>T) c.*1733G>T (n.*1733G>T) c.2368G>T (p.Val790Leu) c.2989G>T (p.Val997Leu) c.2656G>T (p.Val886Leu) c.2737G>T (p.Val913Leu) c.2755G>T (p.Val919Leu) n.1136G>T n.3352G>T c.1924G>T (p.Val642Leu) c.1699G>T (p.Val567Leu) c.2866-2064G>T (n.2866-2064G>T) n.209G>T c.950G>T c.*90G>T (n.*90G>T) n.3733G>T n.2334G>T c.2845G>T (p.Val949Leu) n.335G>T c.2893G>T (p.Val965Leu) c.2953G>T (p.Val985Leu) c.2503G>T (p.Val835Leu) c.805G>T (p.Val269Leu) c.2854G>T (p.Val952Leu) c.2575G>T (p.Val859Leu) c.2730+3652G>T (n.2730+3652G>T) c.1657G>T (p.Val553Leu) n.3208G>T | |
| 13 | g.51946355C= | CA2091566158 | ATP7B | c.*822G= (n.*822G=) c.*1733G= (n.*1733G=) c.2368G= (p.Val790=) c.2989G= (p.Val997=) c.2656G= (p.Val886=) c.2737G= (p.Val913=) c.2755G= (p.Val919=) n.1136G= n.3352G= c.1924G= (p.Val642=) c.1699G= (p.Val567=) c.2866-2064G= (n.2866-2064G=) n.209G= c.950G= c.*90G= (n.*90G=) n.3733G= n.2334G= c.2845G= (p.Val949=) n.335G= c.2893G= (p.Val965=) c.2953G= (p.Val985=) c.2503G= (p.Val835=) c.805G= (p.Val269=) c.2854G= (p.Val952=) c.2575G= (p.Val859=) c.2730+3652G= (n.2730+3652G=) c.1657G= (p.Val553=) n.3208G= | |
| 13 | g.51946355C>G | CA388032130 | ATP7B | c.*822G>C (n.*822G>C) c.*1733G>C (n.*1733G>C) c.2368G>C (p.Val790Leu) c.2989G>C (p.Val997Leu) c.2656G>C (p.Val886Leu) c.2737G>C (p.Val913Leu) c.2755G>C (p.Val919Leu) n.1136G>C n.3352G>C c.1924G>C (p.Val642Leu) c.1699G>C (p.Val567Leu) c.2866-2064G>C (n.2866-2064G>C) n.209G>C c.950G>C c.*90G>C (n.*90G>C) n.3733G>C n.2334G>C c.2845G>C (p.Val949Leu) n.335G>C c.2893G>C (p.Val965Leu) c.2953G>C (p.Val985Leu) c.2503G>C (p.Val835Leu) c.805G>C (p.Val269Leu) c.2854G>C (p.Val952Leu) c.2575G>C (p.Val859Leu) c.2730+3652G>C (n.2730+3652G>C) c.1657G>C (p.Val553Leu) n.3208G>C | gnomAD v4 |
| 13 | g.51946355C>T | CA388032133 | ATP7B | c.*822G>A (n.*822G>A) c.*1733G>A (n.*1733G>A) c.2368G>A (p.Val790Met) c.2989G>A (p.Val997Met) c.2656G>A (p.Val886Met) c.2737G>A (p.Val913Met) c.2755G>A (p.Val919Met) n.1136G>A n.3352G>A c.1924G>A (p.Val642Met) c.1699G>A (p.Val567Met) c.2866-2064G>A (n.2866-2064G>A) n.209G>A c.950G>A c.*90G>A (n.*90G>A) n.3733G>A n.2334G>A c.2845G>A (p.Val949Met) n.335G>A c.2893G>A (p.Val965Met) c.2953G>A (p.Val985Met) c.2503G>A (p.Val835Met) c.805G>A (p.Val269Met) c.2854G>A (p.Val952Met) c.2575G>A (p.Val859Met) c.2730+3652G>A (n.2730+3652G>A) c.1657G>A (p.Val553Met) n.3208G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.51946356C>A | CA6988844 | ATP7B | c.*821G>T (n.*821G>T) c.*1732G>T (n.*1732G>T) c.2367G>T (p.Met789Ile) c.2988G>T (p.Met996Ile) c.2655G>T (p.Met885Ile) c.2736G>T (p.Met912Ile) c.2754G>T (p.Met918Ile) n.1135G>T n.3351G>T c.1923G>T (p.Met641Ile) c.1698G>T (p.Met566Ile) c.2866-2065G>T (n.2866-2065G>T) n.208G>T c.949G>T c.*89G>T (n.*89G>T) n.3732G>T n.2333G>T c.2844G>T (p.Met948Ile) n.334G>T c.2892G>T (p.Met964Ile) c.2952G>T (p.Met984Ile) c.2502G>T (p.Met834Ile) c.804G>T (p.Met268Ile) c.2853G>T (p.Met951Ile) c.2574G>T (p.Met858Ile) c.2730+3651G>T (n.2730+3651G>T) c.1656G>T (p.Met552Ile) n.3207G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51946356C= | CA2091566159 | ATP7B | c.*821G= (n.*821G=) c.*1732G= (n.*1732G=) c.2367G= (p.Met789=) c.2988G= (p.Met996=) c.2655G= (p.Met885=) c.2736G= (p.Met912=) c.2754G= (p.Met918=) n.1135G= n.3351G= c.1923G= (p.Met641=) c.1698G= (p.Met566=) c.2866-2065G= (n.2866-2065G=) n.208G= c.949G= c.*89G= (n.*89G=) n.3732G= n.2333G= c.2844G= (p.Met948=) n.334G= c.2892G= (p.Met964=) c.2952G= (p.Met984=) c.2502G= (p.Met834=) c.804G= (p.Met268=) c.2853G= (p.Met951=) c.2574G= (p.Met858=) c.2730+3651G= (n.2730+3651G=) c.1656G= (p.Met552=) n.3207G= | |
| 13 | g.51946356C>G | CA388032144 | ATP7B | c.*821G>C (n.*821G>C) c.*1732G>C (n.*1732G>C) c.2367G>C (p.Met789Ile) c.2988G>C (p.Met996Ile) c.2655G>C (p.Met885Ile) c.2736G>C (p.Met912Ile) c.2754G>C (p.Met918Ile) n.1135G>C n.3351G>C c.1923G>C (p.Met641Ile) c.1698G>C (p.Met566Ile) c.2866-2065G>C (n.2866-2065G>C) n.208G>C c.949G>C c.*89G>C (n.*89G>C) n.3732G>C n.2333G>C c.2844G>C (p.Met948Ile) n.334G>C c.2892G>C (p.Met964Ile) c.2952G>C (p.Met984Ile) c.2502G>C (p.Met834Ile) c.804G>C (p.Met268Ile) c.2853G>C (p.Met951Ile) c.2574G>C (p.Met858Ile) c.2730+3651G>C (n.2730+3651G>C) c.1656G>C (p.Met552Ile) n.3207G>C | |
| 13 | g.51946356C>T | CA388032141 | ATP7B | c.*821G>A (n.*821G>A) c.*1732G>A (n.*1732G>A) c.2367G>A (p.Met789Ile) c.2988G>A (p.Met996Ile) c.2655G>A (p.Met885Ile) c.2736G>A (p.Met912Ile) c.2754G>A (p.Met918Ile) n.1135G>A n.3351G>A c.1923G>A (p.Met641Ile) c.1698G>A (p.Met566Ile) c.2866-2065G>A (n.2866-2065G>A) n.208G>A c.949G>A c.*89G>A (n.*89G>A) n.3732G>A n.2333G>A c.2844G>A (p.Met948Ile) n.334G>A c.2892G>A (p.Met964Ile) c.2952G>A (p.Met984Ile) c.2502G>A (p.Met834Ile) c.804G>A (p.Met268Ile) c.2853G>A (p.Met951Ile) c.2574G>A (p.Met858Ile) c.2730+3651G>A (n.2730+3651G>A) c.1656G>A (p.Met552Ile) n.3207G>A | |
| 13 | g.51946357del | CA2573149710 | ATP7B | c.*820del (n.*820del) c.*1731del (n.*1731del) c.2366del (p.Met789ArgfsTer26) c.2987del (p.Met996ArgfsTer26) c.2654del (p.Met885ArgfsTer26) c.2735del (p.Met912ArgfsTer26) c.2753del (p.Met918ArgfsTer26) n.1134del n.3350del c.1922del (p.Met641ArgfsTer26) c.1697del (p.Met566ArgfsTer26) c.2866-2066del (n.2866-2066del) n.207del c.948del c.*88del (n.*88del) n.3731del n.2332del c.2843del (p.Met948ArgfsTer26) n.333del c.2891del (p.Met964ArgfsTer26) c.2951del (p.Met984ArgfsTer26) c.2501del (p.Met834ArgfsTer26) c.803del (p.Met268ArgfsTer26) c.803del (p.Met268ArgfsTer?) c.2852del (p.Met951ArgfsTer26) c.2987del (p.Met996ArgfsTer?) c.2573del (p.Met858ArgfsTer26) c.2730+3650del (n.2730+3650del) c.1655del (p.Met552ArgfsTer26) n.3206del | ClinVar dbSNP |
| 13 | g.51946357A= | CA2091566160 | ATP7B | c.*820T= (n.*820T=) c.*1731T= (n.*1731T=) c.2366T= (p.Met789=) c.2987T= (p.Met996=) c.2654T= (p.Met885=) c.2735T= (p.Met912=) c.2753T= (p.Met918=) n.1134T= n.3350T= c.1922T= (p.Met641=) c.1697T= (p.Met566=) c.2866-2066T= (n.2866-2066T=) n.207T= c.948T= c.*88T= (n.*88T=) n.3731T= n.2332T= c.2843T= (p.Met948=) n.333T= c.2891T= (p.Met964=) c.2951T= (p.Met984=) c.2501T= (p.Met834=) c.803T= (p.Met268=) c.2852T= (p.Met951=) c.2573T= (p.Met858=) c.2730+3650T= (n.2730+3650T=) c.1655T= (p.Met552=) n.3206T= | |
| 13 | g.51946357A>C | CA388032146 | ATP7B | c.*820T>G (n.*820T>G) c.*1731T>G (n.*1731T>G) c.2366T>G (p.Met789Arg) c.2987T>G (p.Met996Arg) c.2654T>G (p.Met885Arg) c.2735T>G (p.Met912Arg) c.2753T>G (p.Met918Arg) n.1134T>G n.3350T>G c.1922T>G (p.Met641Arg) c.1697T>G (p.Met566Arg) c.2866-2066T>G (n.2866-2066T>G) n.207T>G c.948T>G c.*88T>G (n.*88T>G) n.3731T>G n.2332T>G c.2843T>G (p.Met948Arg) n.333T>G c.2891T>G (p.Met964Arg) c.2951T>G (p.Met984Arg) c.2501T>G (p.Met834Arg) c.803T>G (p.Met268Arg) c.2852T>G (p.Met951Arg) c.2573T>G (p.Met858Arg) c.2730+3650T>G (n.2730+3650T>G) c.1655T>G (p.Met552Arg) n.3206T>G | |
| 13 | g.51946357A>G | CA6988845 | ATP7B | c.*820T>C (n.*820T>C) c.*1731T>C (n.*1731T>C) c.2366T>C (p.Met789Thr) c.2987T>C (p.Met996Thr) c.2654T>C (p.Met885Thr) c.2735T>C (p.Met912Thr) c.2753T>C (p.Met918Thr) n.1134T>C n.3350T>C c.1922T>C (p.Met641Thr) c.1697T>C (p.Met566Thr) c.2866-2066T>C (n.2866-2066T>C) n.207T>C c.948T>C c.*88T>C (n.*88T>C) n.3731T>C n.2332T>C c.2843T>C (p.Met948Thr) n.333T>C c.2891T>C (p.Met964Thr) c.2951T>C (p.Met984Thr) c.2501T>C (p.Met834Thr) c.803T>C (p.Met268Thr) c.2852T>C (p.Met951Thr) c.2573T>C (p.Met858Thr) c.2730+3650T>C (n.2730+3650T>C) c.1655T>C (p.Met552Thr) n.3206T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51946357A>T | CA388032155 | ATP7B | c.*820T>A (n.*820T>A) c.*1731T>A (n.*1731T>A) c.2366T>A (p.Met789Lys) c.2987T>A (p.Met996Lys) c.2654T>A (p.Met885Lys) c.2735T>A (p.Met912Lys) c.2753T>A (p.Met918Lys) n.1134T>A n.3350T>A c.1922T>A (p.Met641Lys) c.1697T>A (p.Met566Lys) c.2866-2066T>A (n.2866-2066T>A) n.207T>A c.948T>A c.*88T>A (n.*88T>A) n.3731T>A n.2332T>A c.2843T>A (p.Met948Lys) n.333T>A c.2891T>A (p.Met964Lys) c.2951T>A (p.Met984Lys) c.2501T>A (p.Met834Lys) c.803T>A (p.Met268Lys) c.2852T>A (p.Met951Lys) c.2573T>A (p.Met858Lys) c.2730+3650T>A (n.2730+3650T>A) c.1655T>A (p.Met552Lys) n.3206T>A | |
| 13 | g.51946358T>A | CA388032163 | ATP7B | c.*819A>T (n.*819A>T) c.*1730A>T (n.*1730A>T) c.2365A>T (p.Met789Leu) c.2986A>T (p.Met996Leu) c.2653A>T (p.Met885Leu) c.2734A>T (p.Met912Leu) c.2752A>T (p.Met918Leu) n.1133A>T n.3349A>T c.1921A>T (p.Met641Leu) c.1696A>T (p.Met566Leu) c.2866-2067A>T (n.2866-2067A>T) n.206A>T c.947A>T c.*87A>T (n.*87A>T) n.3730A>T n.2331A>T c.2842A>T (p.Met948Leu) n.332A>T c.2890A>T (p.Met964Leu) c.2950A>T (p.Met984Leu) c.2500A>T (p.Met834Leu) c.802A>T (p.Met268Leu) c.2851A>T (p.Met951Leu) c.2572A>T (p.Met858Leu) c.2730+3649A>T (n.2730+3649A>T) c.1654A>T (p.Met552Leu) n.3205A>T | |
| 13 | g.51946358T>C | CA388032164 | ATP7B | c.*819A>G (n.*819A>G) c.*1730A>G (n.*1730A>G) c.2365A>G (p.Met789Val) c.2986A>G (p.Met996Val) c.2653A>G (p.Met885Val) c.2734A>G (p.Met912Val) c.2752A>G (p.Met918Val) n.1133A>G n.3349A>G c.1921A>G (p.Met641Val) c.1696A>G (p.Met566Val) c.2866-2067A>G (n.2866-2067A>G) n.206A>G c.947A>G c.*87A>G (n.*87A>G) n.3730A>G n.2331A>G c.2842A>G (p.Met948Val) n.332A>G c.2890A>G (p.Met964Val) c.2950A>G (p.Met984Val) c.2500A>G (p.Met834Val) c.802A>G (p.Met268Val) c.2851A>G (p.Met951Val) c.2572A>G (p.Met858Val) c.2730+3649A>G (n.2730+3649A>G) c.1654A>G (p.Met552Val) n.3205A>G | ClinVar |
| 13 | g.51946358T>G | CA388032168 | ATP7B | c.*819A>C (n.*819A>C) c.*1730A>C (n.*1730A>C) c.2365A>C (p.Met789Leu) c.2986A>C (p.Met996Leu) c.2653A>C (p.Met885Leu) c.2734A>C (p.Met912Leu) c.2752A>C (p.Met918Leu) n.1133A>C n.3349A>C c.1921A>C (p.Met641Leu) c.1696A>C (p.Met566Leu) c.2866-2067A>C (n.2866-2067A>C) n.206A>C c.947A>C c.*87A>C (n.*87A>C) n.3730A>C n.2331A>C c.2842A>C (p.Met948Leu) n.332A>C c.2890A>C (p.Met964Leu) c.2950A>C (p.Met984Leu) c.2500A>C (p.Met834Leu) c.802A>C (p.Met268Leu) c.2851A>C (p.Met951Leu) c.2572A>C (p.Met858Leu) c.2730+3649A>C (n.2730+3649A>C) c.1654A>C (p.Met552Leu) n.3205A>C | |
| 13 | g.51946359G>A | CA6988846 | ATP7B | c.*818C>T (n.*818C>T) c.*1729C>T (n.*1729C>T) c.2364C>T (p.Val788=) c.2985C>T (p.Val995=) c.2652C>T (p.Val884=) c.2733C>T (p.Val911=) c.2751C>T (p.Val917=) n.1132C>T n.3348C>T c.1920C>T (p.Val640=) c.1695C>T (p.Val565=) c.2866-2068C>T (n.2866-2068C>T) n.205C>T c.946C>T c.*86C>T (n.*86C>T) n.3729C>T n.2330C>T c.2841C>T (p.Val947=) n.331C>T c.2889C>T (p.Val963=) c.2949C>T (p.Val983=) c.2499C>T (p.Val833=) c.801C>T (p.Val267=) c.2850C>T (p.Val950=) c.2571C>T (p.Val857=) c.2730+3648C>T (n.2730+3648C>T) c.1653C>T (p.Val551=) n.3204C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51946359G>C | CA483894919 | ATP7B | c.*818C>G (n.*818C>G) c.*1729C>G (n.*1729C>G) c.2364C>G (p.Val788=) c.2985C>G (p.Val995=) c.2652C>G (p.Val884=) c.2733C>G (p.Val911=) c.2751C>G (p.Val917=) n.1132C>G n.3348C>G c.1920C>G (p.Val640=) c.1695C>G (p.Val565=) c.2866-2068C>G (n.2866-2068C>G) n.205C>G c.946C>G c.*86C>G (n.*86C>G) n.3729C>G n.2330C>G c.2841C>G (p.Val947=) n.331C>G c.2889C>G (p.Val963=) c.2949C>G (p.Val983=) c.2499C>G (p.Val833=) c.801C>G (p.Val267=) c.2850C>G (p.Val950=) c.2571C>G (p.Val857=) c.2730+3648C>G (n.2730+3648C>G) c.1653C>G (p.Val551=) n.3204C>G | |
| 13 | g.51946359G= | CA2091566161 | ATP7B | c.*818C= (n.*818C=) c.*1729C= (n.*1729C=) c.2364C= (p.Val788=) c.2985C= (p.Val995=) c.2652C= (p.Val884=) c.2733C= (p.Val911=) c.2751C= (p.Val917=) n.1132C= n.3348C= c.1920C= (p.Val640=) c.1695C= (p.Val565=) c.2866-2068C= (n.2866-2068C=) n.205C= c.946C= c.*86C= (n.*86C=) n.3729C= n.2330C= c.2841C= (p.Val947=) n.331C= c.2889C= (p.Val963=) c.2949C= (p.Val983=) c.2499C= (p.Val833=) c.801C= (p.Val267=) c.2850C= (p.Val950=) c.2571C= (p.Val857=) c.2730+3648C= (n.2730+3648C=) c.1653C= (p.Val551=) n.3204C= | |
| 13 | g.51946359G>T | CA483894918 | ATP7B | c.*818C>A (n.*818C>A) c.*1729C>A (n.*1729C>A) c.2364C>A (p.Val788=) c.2985C>A (p.Val995=) c.2652C>A (p.Val884=) c.2733C>A (p.Val911=) c.2751C>A (p.Val917=) n.1132C>A n.3348C>A c.1920C>A (p.Val640=) c.1695C>A (p.Val565=) c.2866-2068C>A (n.2866-2068C>A) n.205C>A c.946C>A c.*86C>A (n.*86C>A) n.3729C>A n.2330C>A c.2841C>A (p.Val947=) n.331C>A c.2889C>A (p.Val963=) c.2949C>A (p.Val983=) c.2499C>A (p.Val833=) c.801C>A (p.Val267=) c.2850C>A (p.Val950=) c.2571C>A (p.Val857=) c.2730+3648C>A (n.2730+3648C>A) c.1653C>A (p.Val551=) n.3204C>A | |
| 13 | g.51946360A= | CA2091566162 | ATP7B | c.*817T= (n.*817T=) c.*1728T= (n.*1728T=) c.2363T= (p.Val788=) c.2984T= (p.Val995=) c.2651T= (p.Val884=) c.2732T= (p.Val911=) c.2750T= (p.Val917=) n.1131T= n.3347T= c.1919T= (p.Val640=) c.1694T= (p.Val565=) c.2866-2069T= (n.2866-2069T=) n.204T= c.945T= c.*85T= (n.*85T=) n.3728T= n.2329T= c.2840T= (p.Val947=) n.330T= c.2888T= (p.Val963=) c.2948T= (p.Val983=) c.2498T= (p.Val833=) c.800T= (p.Val267=) c.2849T= (p.Val950=) c.2570T= (p.Val857=) c.2730+3647T= (n.2730+3647T=) c.1652T= (p.Val551=) n.3203T= | |
| 13 | g.51946360A>C | CA388032172 | ATP7B | c.*817T>G (n.*817T>G) c.*1728T>G (n.*1728T>G) c.2363T>G (p.Val788Gly) c.2984T>G (p.Val995Gly) c.2651T>G (p.Val884Gly) c.2732T>G (p.Val911Gly) c.2750T>G (p.Val917Gly) n.1131T>G n.3347T>G c.1919T>G (p.Val640Gly) c.1694T>G (p.Val565Gly) c.2866-2069T>G (n.2866-2069T>G) n.204T>G c.945T>G c.*85T>G (n.*85T>G) n.3728T>G n.2329T>G c.2840T>G (p.Val947Gly) n.330T>G c.2888T>G (p.Val963Gly) c.2948T>G (p.Val983Gly) c.2498T>G (p.Val833Gly) c.800T>G (p.Val267Gly) c.2849T>G (p.Val950Gly) c.2570T>G (p.Val857Gly) c.2730+3647T>G (n.2730+3647T>G) c.1652T>G (p.Val551Gly) n.3203T>G | dbSNP |
| 13 | g.51946360A>G | CA6988847 | ATP7B | c.*817T>C (n.*817T>C) c.*1728T>C (n.*1728T>C) c.2363T>C (p.Val788Ala) c.2984T>C (p.Val995Ala) c.2651T>C (p.Val884Ala) c.2732T>C (p.Val911Ala) c.2750T>C (p.Val917Ala) n.1131T>C n.3347T>C c.1919T>C (p.Val640Ala) c.1694T>C (p.Val565Ala) c.2866-2069T>C (n.2866-2069T>C) n.204T>C c.945T>C c.*85T>C (n.*85T>C) n.3728T>C n.2329T>C c.2840T>C (p.Val947Ala) n.330T>C c.2888T>C (p.Val963Ala) c.2948T>C (p.Val983Ala) c.2498T>C (p.Val833Ala) c.800T>C (p.Val267Ala) c.2849T>C (p.Val950Ala) c.2570T>C (p.Val857Ala) c.2730+3647T>C (n.2730+3647T>C) c.1652T>C (p.Val551Ala) n.3203T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51946360A>T | CA388032173 | ATP7B | c.*817T>A (n.*817T>A) c.*1728T>A (n.*1728T>A) c.2363T>A (p.Val788Asp) c.2984T>A (p.Val995Asp) c.2651T>A (p.Val884Asp) c.2732T>A (p.Val911Asp) c.2750T>A (p.Val917Asp) n.1131T>A n.3347T>A c.1919T>A (p.Val640Asp) c.1694T>A (p.Val565Asp) c.2866-2069T>A (n.2866-2069T>A) n.204T>A c.945T>A c.*85T>A (n.*85T>A) n.3728T>A n.2329T>A c.2840T>A (p.Val947Asp) n.330T>A c.2888T>A (p.Val963Asp) c.2948T>A (p.Val983Asp) c.2498T>A (p.Val833Asp) c.800T>A (p.Val267Asp) c.2849T>A (p.Val950Asp) c.2570T>A (p.Val857Asp) c.2730+3647T>A (n.2730+3647T>A) c.1652T>A (p.Val551Asp) n.3203T>A | |
| 13 | g.51946361C>A | CA388032175 | ATP7B | c.*816G>T (n.*816G>T) c.*1727G>T (n.*1727G>T) c.2362G>T (p.Val788Phe) c.2983G>T (p.Val995Phe) c.2650G>T (p.Val884Phe) c.2731G>T (p.Val911Phe) c.2749G>T (p.Val917Phe) n.1130G>T n.3346G>T c.1918G>T (p.Val640Phe) c.1693G>T (p.Val565Phe) c.2866-2070G>T (n.2866-2070G>T) n.203G>T c.944G>T c.*84G>T (n.*84G>T) n.3727G>T n.2328G>T c.2839G>T (p.Val947Phe) n.329G>T c.2887G>T (p.Val963Phe) c.2947G>T (p.Val983Phe) c.2497G>T (p.Val833Phe) c.799G>T (p.Val267Phe) c.2848G>T (p.Val950Phe) c.2569G>T (p.Val857Phe) c.2730+3646G>T (n.2730+3646G>T) c.1651G>T (p.Val551Phe) n.3202G>T | |
| 13 | g.51946361C= | CA2091566163 | ATP7B | c.*816G= (n.*816G=) c.*1727G= (n.*1727G=) c.2362G= (p.Val788=) c.2983G= (p.Val995=) c.2650G= (p.Val884=) c.2731G= (p.Val911=) c.2749G= (p.Val917=) n.1130G= n.3346G= c.1918G= (p.Val640=) c.1693G= (p.Val565=) c.2866-2070G= (n.2866-2070G=) n.203G= c.944G= c.*84G= (n.*84G=) n.3727G= n.2328G= c.2839G= (p.Val947=) n.329G= c.2887G= (p.Val963=) c.2947G= (p.Val983=) c.2497G= (p.Val833=) c.799G= (p.Val267=) c.2848G= (p.Val950=) c.2569G= (p.Val857=) c.2730+3646G= (n.2730+3646G=) c.1651G= (p.Val551=) n.3202G= | |
| 13 | g.51946361C>G | CA388032178 | ATP7B | c.*816G>C (n.*816G>C) c.*1727G>C (n.*1727G>C) c.2362G>C (p.Val788Leu) c.2983G>C (p.Val995Leu) c.2650G>C (p.Val884Leu) c.2731G>C (p.Val911Leu) c.2749G>C (p.Val917Leu) n.1130G>C n.3346G>C c.1918G>C (p.Val640Leu) c.1693G>C (p.Val565Leu) c.2866-2070G>C (n.2866-2070G>C) n.203G>C c.944G>C c.*84G>C (n.*84G>C) n.3727G>C n.2328G>C c.2839G>C (p.Val947Leu) n.329G>C c.2887G>C (p.Val963Leu) c.2947G>C (p.Val983Leu) c.2497G>C (p.Val833Leu) c.799G>C (p.Val267Leu) c.2848G>C (p.Val950Leu) c.2569G>C (p.Val857Leu) c.2730+3646G>C (n.2730+3646G>C) c.1651G>C (p.Val551Leu) n.3202G>C | dbSNP COSMIC |
| 13 | g.51946361C>T | CA388032180 | ATP7B | c.*816G>A (n.*816G>A) c.*1727G>A (n.*1727G>A) c.2362G>A (p.Val788Ile) c.2983G>A (p.Val995Ile) c.2650G>A (p.Val884Ile) c.2731G>A (p.Val911Ile) c.2749G>A (p.Val917Ile) n.1130G>A n.3346G>A c.1918G>A (p.Val640Ile) c.1693G>A (p.Val565Ile) c.2866-2070G>A (n.2866-2070G>A) n.203G>A c.944G>A c.*84G>A (n.*84G>A) n.3727G>A n.2328G>A c.2839G>A (p.Val947Ile) n.329G>A c.2887G>A (p.Val963Ile) c.2947G>A (p.Val983Ile) c.2497G>A (p.Val833Ile) c.799G>A (p.Val267Ile) c.2848G>A (p.Val950Ile) c.2569G>A (p.Val857Ile) c.2730+3646G>A (n.2730+3646G>A) c.1651G>A (p.Val551Ile) n.3202G>A | dbSNP |
| 13 | g.51946362A>C | CA483894921 | ATP7B | c.*815T>G (n.*815T>G) c.*1726T>G (n.*1726T>G) c.2361T>G (p.Ala787=) c.2982T>G (p.Ala994=) c.2649T>G (p.Ala883=) c.2730T>G (p.Ala910=) c.2748T>G (p.Ala916=) n.1129T>G n.3345T>G c.1917T>G (p.Ala639=) c.1692T>G (p.Ala564=) c.2866-2071T>G (n.2866-2071T>G) n.202T>G c.943T>G c.*83T>G (n.*83T>G) n.3726T>G n.2327T>G c.2838T>G (p.Ala946=) n.328T>G c.2886T>G (p.Ala962=) c.2946T>G (p.Ala982=) c.2496T>G (p.Ala832=) c.798T>G (p.Ala266=) c.2847T>G (p.Ala949=) c.2568T>G (p.Ala856=) c.2730+3645T>G (n.2730+3645T>G) c.1650T>G (p.Ala550=) n.3201T>G | |
| 13 | g.51946362A>G | CA483894923 | ATP7B | c.*815T>C (n.*815T>C) c.*1726T>C (n.*1726T>C) c.2361T>C (p.Ala787=) c.2982T>C (p.Ala994=) c.2649T>C (p.Ala883=) c.2730T>C (p.Ala910=) c.2748T>C (p.Ala916=) n.1129T>C n.3345T>C c.1917T>C (p.Ala639=) c.1692T>C (p.Ala564=) c.2866-2071T>C (n.2866-2071T>C) n.202T>C c.943T>C c.*83T>C (n.*83T>C) n.3726T>C n.2327T>C c.2838T>C (p.Ala946=) n.328T>C c.2886T>C (p.Ala962=) c.2946T>C (p.Ala982=) c.2496T>C (p.Ala832=) c.798T>C (p.Ala266=) c.2847T>C (p.Ala949=) c.2568T>C (p.Ala856=) c.2730+3645T>C (n.2730+3645T>C) c.1650T>C (p.Ala550=) n.3201T>C | dbSNP |
| 13 | g.51946362A>T | CA483894924 | ATP7B | c.*815T>A (n.*815T>A) c.*1726T>A (n.*1726T>A) c.2361T>A (p.Ala787=) c.2982T>A (p.Ala994=) c.2649T>A (p.Ala883=) c.2730T>A (p.Ala910=) c.2748T>A (p.Ala916=) n.1129T>A n.3345T>A c.1917T>A (p.Ala639=) c.1692T>A (p.Ala564=) c.2866-2071T>A (n.2866-2071T>A) n.202T>A c.943T>A c.*83T>A (n.*83T>A) n.3726T>A n.2327T>A c.2838T>A (p.Ala946=) n.328T>A c.2886T>A (p.Ala962=) c.2946T>A (p.Ala982=) c.2496T>A (p.Ala832=) c.798T>A (p.Ala266=) c.2847T>A (p.Ala949=) c.2568T>A (p.Ala856=) c.2730+3645T>A (n.2730+3645T>A) c.1650T>A (p.Ala550=) n.3201T>A | |
| 13 | g.51946363G>A | CA388032186 | ATP7B | c.*814C>T (n.*814C>T) c.*1725C>T (n.*1725C>T) c.2360C>T (p.Ala787Val) c.2981C>T (p.Ala994Val) c.2648C>T (p.Ala883Val) c.2729C>T (p.Ala910Val) c.2747C>T (p.Ala916Val) n.1128C>T n.3344C>T c.1916C>T (p.Ala639Val) c.1691C>T (p.Ala564Val) c.2866-2072C>T (n.2866-2072C>T) n.201C>T c.942C>T c.*82C>T (n.*82C>T) n.3725C>T n.2326C>T c.2837C>T (p.Ala946Val) n.327C>T c.2885C>T (p.Ala962Val) c.2945C>T (p.Ala982Val) c.2495C>T (p.Ala832Val) c.797C>T (p.Ala266Val) c.2846C>T (p.Ala949Val) c.2567C>T (p.Ala856Val) c.2730+3644C>T (n.2730+3644C>T) c.1649C>T (p.Ala550Val) n.3200C>T |