Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.51944164G>A | CA171310 | ATP7B | c.*894-1610C>T (n.*894-1610C>T) c.*1932C>T (n.*1932C>T) c.2567C>T (p.Ala856Val) c.3188C>T (p.Ala1063Val) c.2855C>T (p.Ala952Val) c.2936C>T (p.Ala979Val) c.2954C>T (p.Ala985Val) n.3327C>T n.3551C>T c.2123C>T (p.Ala708Val) c.1898C>T (p.Ala633Val) c.2993C>T (p.Ala998Val) n.408C>T c.1022-1610C>T c.*289C>T (n.*289C>T) n.3932C>T n.2533C>T c.3044C>T (p.Ala1015Val) c.3092C>T (p.Ala1031Val) c.3152C>T (p.Ala1051Val) c.2702C>T (p.Ala901Val) c.1004C>T (p.Ala335Val) c.877-1610C>T (n.877-1610C>T) c.3053C>T (p.Ala1018Val) c.3061-1610C>T (n.3061-1610C>T) c.2774C>T (p.Ala925Val) c.2731-1610C>T (n.2731-1610C>T) c.1856C>T (p.Ala619Val) n.3407C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
13 | g.51944164G>C | CA388029980 | ATP7B | c.*894-1610C>G (n.*894-1610C>G) c.*1932C>G (n.*1932C>G) c.2567C>G (p.Ala856Gly) c.3188C>G (p.Ala1063Gly) c.2855C>G (p.Ala952Gly) c.2936C>G (p.Ala979Gly) c.2954C>G (p.Ala985Gly) n.3327C>G n.3551C>G c.2123C>G (p.Ala708Gly) c.1898C>G (p.Ala633Gly) c.2993C>G (p.Ala998Gly) n.408C>G c.1022-1610C>G c.*289C>G (n.*289C>G) n.3932C>G n.2533C>G c.3044C>G (p.Ala1015Gly) c.3092C>G (p.Ala1031Gly) c.3152C>G (p.Ala1051Gly) c.2702C>G (p.Ala901Gly) c.1004C>G (p.Ala335Gly) c.877-1610C>G (n.877-1610C>G) c.3053C>G (p.Ala1018Gly) c.3061-1610C>G (n.3061-1610C>G) c.2774C>G (p.Ala925Gly) c.2731-1610C>G (n.2731-1610C>G) c.1856C>G (p.Ala619Gly) n.3407C>G | COSMIC |
13 | g.51944164G= | CA2091563850 | ATP7B | c.*894-1610C= (n.*894-1610C=) c.*1932C= (n.*1932C=) c.2567C= (p.Ala856=) c.3188C= (p.Ala1063=) c.2855C= (p.Ala952=) c.2936C= (p.Ala979=) c.2954C= (p.Ala985=) n.3327C= n.3551C= c.2123C= (p.Ala708=) c.1898C= (p.Ala633=) c.2993C= (p.Ala998=) n.408C= c.1022-1610C= c.*289C= (n.*289C=) n.3932C= n.2533C= c.3044C= (p.Ala1015=) c.3092C= (p.Ala1031=) c.3152C= (p.Ala1051=) c.2702C= (p.Ala901=) c.1004C= (p.Ala335=) c.877-1610C= (n.877-1610C=) c.3053C= (p.Ala1018=) c.3061-1610C= (n.3061-1610C=) c.2774C= (p.Ala925=) c.2731-1610C= (n.2731-1610C=) c.1856C= (p.Ala619=) n.3407C= | |
13 | g.51944164G>T | CA388029982 | ATP7B | c.*894-1610C>A (n.*894-1610C>A) c.*1932C>A (n.*1932C>A) c.2567C>A (p.Ala856Glu) c.3188C>A (p.Ala1063Glu) c.2855C>A (p.Ala952Glu) c.2936C>A (p.Ala979Glu) c.2954C>A (p.Ala985Glu) n.3327C>A n.3551C>A c.2123C>A (p.Ala708Glu) c.1898C>A (p.Ala633Glu) c.2993C>A (p.Ala998Glu) n.408C>A c.1022-1610C>A c.*289C>A (n.*289C>A) n.3932C>A n.2533C>A c.3044C>A (p.Ala1015Glu) c.3092C>A (p.Ala1031Glu) c.3152C>A (p.Ala1051Glu) c.2702C>A (p.Ala901Glu) c.1004C>A (p.Ala335Glu) c.877-1610C>A (n.877-1610C>A) c.3053C>A (p.Ala1018Glu) c.3061-1610C>A (n.3061-1610C>A) c.2774C>A (p.Ala925Glu) c.2731-1610C>A (n.2731-1610C>A) c.1856C>A (p.Ala619Glu) n.3407C>A | |
13 | g.51944165C>A | CA388029984 | ATP7B | c.*894-1611G>T (n.*894-1611G>T) c.*1931G>T (n.*1931G>T) c.2566G>T (p.Ala856Ser) c.3187G>T (p.Ala1063Ser) c.2854G>T (p.Ala952Ser) c.2935G>T (p.Ala979Ser) c.2953G>T (p.Ala985Ser) n.3326G>T n.3550G>T c.2122G>T (p.Ala708Ser) c.1897G>T (p.Ala633Ser) c.2992G>T (p.Ala998Ser) n.407G>T c.1022-1611G>T c.*288G>T (n.*288G>T) n.3931G>T n.2532G>T c.3043G>T (p.Ala1015Ser) c.3091G>T (p.Ala1031Ser) c.3151G>T (p.Ala1051Ser) c.2701G>T (p.Ala901Ser) c.1003G>T (p.Ala335Ser) c.877-1611G>T (n.877-1611G>T) c.3052G>T (p.Ala1018Ser) c.3061-1611G>T (n.3061-1611G>T) c.2773G>T (p.Ala925Ser) c.2731-1611G>T (n.2731-1611G>T) c.1855G>T (p.Ala619Ser) n.3406G>T | |
13 | g.51944165C>G | CA388029987 | ATP7B | c.*894-1611G>C (n.*894-1611G>C) c.*1931G>C (n.*1931G>C) c.2566G>C (p.Ala856Pro) c.3187G>C (p.Ala1063Pro) c.2854G>C (p.Ala952Pro) c.2935G>C (p.Ala979Pro) c.2953G>C (p.Ala985Pro) n.3326G>C n.3550G>C c.2122G>C (p.Ala708Pro) c.1897G>C (p.Ala633Pro) c.2992G>C (p.Ala998Pro) n.407G>C c.1022-1611G>C c.*288G>C (n.*288G>C) n.3931G>C n.2532G>C c.3043G>C (p.Ala1015Pro) c.3091G>C (p.Ala1031Pro) c.3151G>C (p.Ala1051Pro) c.2701G>C (p.Ala901Pro) c.1003G>C (p.Ala335Pro) c.877-1611G>C (n.877-1611G>C) c.3052G>C (p.Ala1018Pro) c.3061-1611G>C (n.3061-1611G>C) c.2773G>C (p.Ala925Pro) c.2731-1611G>C (n.2731-1611G>C) c.1855G>C (p.Ala619Pro) n.3406G>C | |
13 | g.51944165C>T | CA388029989 | ATP7B | c.*894-1611G>A (n.*894-1611G>A) c.*1931G>A (n.*1931G>A) c.2566G>A (p.Ala856Thr) c.3187G>A (p.Ala1063Thr) c.2854G>A (p.Ala952Thr) c.2935G>A (p.Ala979Thr) c.2953G>A (p.Ala985Thr) n.3326G>A n.3550G>A c.2122G>A (p.Ala708Thr) c.1897G>A (p.Ala633Thr) c.2992G>A (p.Ala998Thr) n.407G>A c.1022-1611G>A c.*288G>A (n.*288G>A) n.3931G>A n.2532G>A c.3043G>A (p.Ala1015Thr) c.3091G>A (p.Ala1031Thr) c.3151G>A (p.Ala1051Thr) c.2701G>A (p.Ala901Thr) c.1003G>A (p.Ala335Thr) c.877-1611G>A (n.877-1611G>A) c.3052G>A (p.Ala1018Thr) c.3061-1611G>A (n.3061-1611G>A) c.2773G>A (p.Ala925Thr) c.2731-1611G>A (n.2731-1611G>A) c.1855G>A (p.Ala619Thr) n.3406G>A | ClinVar dbSNP |
13 | g.51944166A>C | CA483894670 | ATP7B | c.*894-1612T>G (n.*894-1612T>G) c.*1930T>G (n.*1930T>G) c.2565T>G (p.Thr855=) c.3186T>G (p.Thr1062=) c.2853T>G (p.Thr951=) c.2934T>G (p.Thr978=) c.2952T>G (p.Thr984=) n.3325T>G n.3549T>G c.2121T>G (p.Thr707=) c.1896T>G (p.Thr632=) c.2991T>G (p.Thr997=) n.406T>G c.1022-1612T>G c.*287T>G (n.*287T>G) n.3930T>G n.2531T>G c.3042T>G (p.Thr1014=) c.3090T>G (p.Thr1030=) c.3150T>G (p.Thr1050=) c.2700T>G (p.Thr900=) c.1002T>G (p.Thr334=) c.877-1612T>G (n.877-1612T>G) c.3051T>G (p.Thr1017=) c.3061-1612T>G (n.3061-1612T>G) c.2772T>G (p.Thr924=) c.2731-1612T>G (n.2731-1612T>G) c.1854T>G (p.Thr618=) n.3405T>G | |
13 | g.51944166A>G | CA483894668 | ATP7B | c.*894-1612T>C (n.*894-1612T>C) c.*1930T>C (n.*1930T>C) c.2565T>C (p.Thr855=) c.3186T>C (p.Thr1062=) c.2853T>C (p.Thr951=) c.2934T>C (p.Thr978=) c.2952T>C (p.Thr984=) n.3325T>C n.3549T>C c.2121T>C (p.Thr707=) c.1896T>C (p.Thr632=) c.2991T>C (p.Thr997=) n.406T>C c.1022-1612T>C c.*287T>C (n.*287T>C) n.3930T>C n.2531T>C c.3042T>C (p.Thr1014=) c.3090T>C (p.Thr1030=) c.3150T>C (p.Thr1050=) c.2700T>C (p.Thr900=) c.1002T>C (p.Thr334=) c.877-1612T>C (n.877-1612T>C) c.3051T>C (p.Thr1017=) c.3061-1612T>C (n.3061-1612T>C) c.2772T>C (p.Thr924=) c.2731-1612T>C (n.2731-1612T>C) c.1854T>C (p.Thr618=) n.3405T>C | ClinVar gnomAD v4 |
13 | g.51944166A>T | CA483894669 | ATP7B | c.*894-1612T>A (n.*894-1612T>A) c.*1930T>A (n.*1930T>A) c.2565T>A (p.Thr855=) c.3186T>A (p.Thr1062=) c.2853T>A (p.Thr951=) c.2934T>A (p.Thr978=) c.2952T>A (p.Thr984=) n.3325T>A n.3549T>A c.2121T>A (p.Thr707=) c.1896T>A (p.Thr632=) c.2991T>A (p.Thr997=) n.406T>A c.1022-1612T>A c.*287T>A (n.*287T>A) n.3930T>A n.2531T>A c.3042T>A (p.Thr1014=) c.3090T>A (p.Thr1030=) c.3150T>A (p.Thr1050=) c.2700T>A (p.Thr900=) c.1002T>A (p.Thr334=) c.877-1612T>A (n.877-1612T>A) c.3051T>A (p.Thr1017=) c.3061-1612T>A (n.3061-1612T>A) c.2772T>A (p.Thr924=) c.2731-1612T>A (n.2731-1612T>A) c.1854T>A (p.Thr618=) n.3405T>A | COSMIC |
13 | g.51944167G>A | CA6988784 | ATP7B | c.*894-1613C>T (n.*894-1613C>T) c.*1929C>T (n.*1929C>T) c.2564C>T (p.Thr855Ile) c.3185C>T (p.Thr1062Ile) c.2852C>T (p.Thr951Ile) c.2933C>T (p.Thr978Ile) c.2951C>T (p.Thr984Ile) n.3324C>T n.3548C>T c.2120C>T (p.Thr707Ile) c.1895C>T (p.Thr632Ile) c.2990C>T (p.Thr997Ile) n.405C>T c.1022-1613C>T c.*286C>T (n.*286C>T) n.3929C>T n.2530C>T c.3041C>T (p.Thr1014Ile) c.3089C>T (p.Thr1030Ile) c.3149C>T (p.Thr1050Ile) c.2699C>T (p.Thr900Ile) c.1001C>T (p.Thr334Ile) c.877-1613C>T (n.877-1613C>T) c.3050C>T (p.Thr1017Ile) c.3061-1613C>T (n.3061-1613C>T) c.2771C>T (p.Thr924Ile) c.2731-1613C>T (n.2731-1613C>T) c.1853C>T (p.Thr618Ile) n.3404C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944167G>C | CA388029993 | ATP7B | c.*894-1613C>G (n.*894-1613C>G) c.*1929C>G (n.*1929C>G) c.2564C>G (p.Thr855Ser) c.3185C>G (p.Thr1062Ser) c.2852C>G (p.Thr951Ser) c.2933C>G (p.Thr978Ser) c.2951C>G (p.Thr984Ser) n.3324C>G n.3548C>G c.2120C>G (p.Thr707Ser) c.1895C>G (p.Thr632Ser) c.2990C>G (p.Thr997Ser) n.405C>G c.1022-1613C>G c.*286C>G (n.*286C>G) n.3929C>G n.2530C>G c.3041C>G (p.Thr1014Ser) c.3089C>G (p.Thr1030Ser) c.3149C>G (p.Thr1050Ser) c.2699C>G (p.Thr900Ser) c.1001C>G (p.Thr334Ser) c.877-1613C>G (n.877-1613C>G) c.3050C>G (p.Thr1017Ser) c.3061-1613C>G (n.3061-1613C>G) c.2771C>G (p.Thr924Ser) c.2731-1613C>G (n.2731-1613C>G) c.1853C>G (p.Thr618Ser) n.3404C>G | |
13 | g.51944167G= | CA2091563856 | ATP7B | c.*894-1613C= (n.*894-1613C=) c.*1929C= (n.*1929C=) c.2564C= (p.Thr855=) c.3185C= (p.Thr1062=) c.2852C= (p.Thr951=) c.2933C= (p.Thr978=) c.2951C= (p.Thr984=) n.3324C= n.3548C= c.2120C= (p.Thr707=) c.1895C= (p.Thr632=) c.2990C= (p.Thr997=) n.405C= c.1022-1613C= c.*286C= (n.*286C=) n.3929C= n.2530C= c.3041C= (p.Thr1014=) c.3089C= (p.Thr1030=) c.3149C= (p.Thr1050=) c.2699C= (p.Thr900=) c.1001C= (p.Thr334=) c.877-1613C= (n.877-1613C=) c.3050C= (p.Thr1017=) c.3061-1613C= (n.3061-1613C=) c.2771C= (p.Thr924=) c.2731-1613C= (n.2731-1613C=) c.1853C= (p.Thr618=) n.3404C= | |
13 | g.51944167G>T | CA388029994 | ATP7B | c.*894-1613C>A (n.*894-1613C>A) c.*1929C>A (n.*1929C>A) c.2564C>A (p.Thr855Asn) c.3185C>A (p.Thr1062Asn) c.2852C>A (p.Thr951Asn) c.2933C>A (p.Thr978Asn) c.2951C>A (p.Thr984Asn) n.3324C>A n.3548C>A c.2120C>A (p.Thr707Asn) c.1895C>A (p.Thr632Asn) c.2990C>A (p.Thr997Asn) n.405C>A c.1022-1613C>A c.*286C>A (n.*286C>A) n.3929C>A n.2530C>A c.3041C>A (p.Thr1014Asn) c.3089C>A (p.Thr1030Asn) c.3149C>A (p.Thr1050Asn) c.2699C>A (p.Thr900Asn) c.1001C>A (p.Thr334Asn) c.877-1613C>A (n.877-1613C>A) c.3050C>A (p.Thr1017Asn) c.3061-1613C>A (n.3061-1613C>A) c.2771C>A (p.Thr924Asn) c.2731-1613C>A (n.2731-1613C>A) c.1853C>A (p.Thr618Asn) n.3404C>A | |
13 | g.51944168T>A | CA388029996 | ATP7B | c.*894-1614A>T (n.*894-1614A>T) c.*1928A>T (n.*1928A>T) c.2563A>T (p.Thr855Ser) c.3184A>T (p.Thr1062Ser) c.2851A>T (p.Thr951Ser) c.2932A>T (p.Thr978Ser) c.2950A>T (p.Thr984Ser) n.3323A>T n.3547A>T c.2119A>T (p.Thr707Ser) c.1894A>T (p.Thr632Ser) c.2989A>T (p.Thr997Ser) n.404A>T c.1022-1614A>T c.*285A>T (n.*285A>T) n.3928A>T n.2529A>T c.3040A>T (p.Thr1014Ser) c.3088A>T (p.Thr1030Ser) c.3148A>T (p.Thr1050Ser) c.2698A>T (p.Thr900Ser) c.1000A>T (p.Thr334Ser) c.877-1614A>T (n.877-1614A>T) c.3049A>T (p.Thr1017Ser) c.3061-1614A>T (n.3061-1614A>T) c.2770A>T (p.Thr924Ser) c.2731-1614A>T (n.2731-1614A>T) c.1852A>T (p.Thr618Ser) n.3403A>T | |
13 | g.51944168T>C | CA388030002 | ATP7B | c.*894-1614A>G (n.*894-1614A>G) c.*1928A>G (n.*1928A>G) c.2563A>G (p.Thr855Ala) c.3184A>G (p.Thr1062Ala) c.2851A>G (p.Thr951Ala) c.2932A>G (p.Thr978Ala) c.2950A>G (p.Thr984Ala) n.3323A>G n.3547A>G c.2119A>G (p.Thr707Ala) c.1894A>G (p.Thr632Ala) c.2989A>G (p.Thr997Ala) n.404A>G c.1022-1614A>G c.*285A>G (n.*285A>G) n.3928A>G n.2529A>G c.3040A>G (p.Thr1014Ala) c.3088A>G (p.Thr1030Ala) c.3148A>G (p.Thr1050Ala) c.2698A>G (p.Thr900Ala) c.1000A>G (p.Thr334Ala) c.877-1614A>G (n.877-1614A>G) c.3049A>G (p.Thr1017Ala) c.3061-1614A>G (n.3061-1614A>G) c.2770A>G (p.Thr924Ala) c.2731-1614A>G (n.2731-1614A>G) c.1852A>G (p.Thr618Ala) n.3403A>G | |
13 | g.51944168T>G | CA388029999 | ATP7B | c.*894-1614A>C (n.*894-1614A>C) c.*1928A>C (n.*1928A>C) c.2563A>C (p.Thr855Pro) c.3184A>C (p.Thr1062Pro) c.2851A>C (p.Thr951Pro) c.2932A>C (p.Thr978Pro) c.2950A>C (p.Thr984Pro) n.3323A>C n.3547A>C c.2119A>C (p.Thr707Pro) c.1894A>C (p.Thr632Pro) c.2989A>C (p.Thr997Pro) n.404A>C c.1022-1614A>C c.*285A>C (n.*285A>C) n.3928A>C n.2529A>C c.3040A>C (p.Thr1014Pro) c.3088A>C (p.Thr1030Pro) c.3148A>C (p.Thr1050Pro) c.2698A>C (p.Thr900Pro) c.1000A>C (p.Thr334Pro) c.877-1614A>C (n.877-1614A>C) c.3049A>C (p.Thr1017Pro) c.3061-1614A>C (n.3061-1614A>C) c.2770A>C (p.Thr924Pro) c.2731-1614A>C (n.2731-1614A>C) c.1852A>C (p.Thr618Pro) n.3403A>C | |
13 | g.51944169C>A | CA250080102 | ATP7B | c.*894-1615G>T (n.*894-1615G>T) c.*1927G>T (n.*1927G>T) c.2562G>T (p.Gly854=) c.3183G>T (p.Gly1061=) c.2850G>T (p.Gly950=) c.2931G>T (p.Gly977=) c.2949G>T (p.Gly983=) n.3322G>T n.3546G>T c.2118G>T (p.Gly706=) c.1893G>T (p.Gly631=) c.2988G>T (p.Gly996=) n.403G>T c.1022-1615G>T c.*284G>T (n.*284G>T) n.3927G>T n.2528G>T c.3039G>T (p.Gly1013=) c.3087G>T (p.Gly1029=) c.3147G>T (p.Gly1049=) c.2697G>T (p.Gly899=) c.999G>T (p.Gly333=) c.877-1615G>T (n.877-1615G>T) c.3048G>T (p.Gly1016=) c.3061-1615G>T (n.3061-1615G>T) c.2769G>T (p.Gly923=) c.2731-1615G>T (n.2731-1615G>T) c.1851G>T (p.Gly617=) n.3402G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944169C= | CA2091563863 | ATP7B | c.*894-1615G= (n.*894-1615G=) c.*1927G= (n.*1927G=) c.2562G= (p.Gly854=) c.3183G= (p.Gly1061=) c.2850G= (p.Gly950=) c.2931G= (p.Gly977=) c.2949G= (p.Gly983=) n.3322G= n.3546G= c.2118G= (p.Gly706=) c.1893G= (p.Gly631=) c.2988G= (p.Gly996=) n.403G= c.1022-1615G= c.*284G= (n.*284G=) n.3927G= n.2528G= c.3039G= (p.Gly1013=) c.3087G= (p.Gly1029=) c.3147G= (p.Gly1049=) c.2697G= (p.Gly899=) c.999G= (p.Gly333=) c.877-1615G= (n.877-1615G=) c.3048G= (p.Gly1016=) c.3061-1615G= (n.3061-1615G=) c.2769G= (p.Gly923=) c.2731-1615G= (n.2731-1615G=) c.1851G= (p.Gly617=) n.3402G= | |
13 | g.51944169C>G | CA483894674 | ATP7B | c.*894-1615G>C (n.*894-1615G>C) c.*1927G>C (n.*1927G>C) c.2562G>C (p.Gly854=) c.3183G>C (p.Gly1061=) c.2850G>C (p.Gly950=) c.2931G>C (p.Gly977=) c.2949G>C (p.Gly983=) n.3322G>C n.3546G>C c.2118G>C (p.Gly706=) c.1893G>C (p.Gly631=) c.2988G>C (p.Gly996=) n.403G>C c.1022-1615G>C c.*284G>C (n.*284G>C) n.3927G>C n.2528G>C c.3039G>C (p.Gly1013=) c.3087G>C (p.Gly1029=) c.3147G>C (p.Gly1049=) c.2697G>C (p.Gly899=) c.999G>C (p.Gly333=) c.877-1615G>C (n.877-1615G>C) c.3048G>C (p.Gly1016=) c.3061-1615G>C (n.3061-1615G>C) c.2769G>C (p.Gly923=) c.2731-1615G>C (n.2731-1615G>C) c.1851G>C (p.Gly617=) n.3402G>C | |
13 | g.51944169C>T | CA483894675 | ATP7B | c.*894-1615G>A (n.*894-1615G>A) c.*1927G>A (n.*1927G>A) c.2562G>A (p.Gly854=) c.3183G>A (p.Gly1061=) c.2850G>A (p.Gly950=) c.2931G>A (p.Gly977=) c.2949G>A (p.Gly983=) n.3322G>A n.3546G>A c.2118G>A (p.Gly706=) c.1893G>A (p.Gly631=) c.2988G>A (p.Gly996=) n.403G>A c.1022-1615G>A c.*284G>A (n.*284G>A) n.3927G>A n.2528G>A c.3039G>A (p.Gly1013=) c.3087G>A (p.Gly1029=) c.3147G>A (p.Gly1049=) c.2697G>A (p.Gly899=) c.999G>A (p.Gly333=) c.877-1615G>A (n.877-1615G>A) c.3048G>A (p.Gly1016=) c.3061-1615G>A (n.3061-1615G>A) c.2769G>A (p.Gly923=) c.2731-1615G>A (n.2731-1615G>A) c.1851G>A (p.Gly617=) n.3402G>A | |
13 | g.51944172del | CA2573149708 | ATP7B | c.*894-1615del (n.*894-1615del) c.*1927del (n.*1927del) c.2562del (p.Thr855LeufsTer?) c.3183del (p.Thr1062LeufsTer?) c.2850del (p.Thr951LeufsTer?) c.2931del (p.Thr978LeufsTer?) c.2949del (p.Thr984LeufsTer?) n.3322del n.3546del c.2118del (p.Thr707LeufsTer?) c.1893del (p.Thr632LeufsTer?) c.2988del (p.Thr997LeufsTer?) n.403del c.1022-1615del c.*284del (n.*284del) n.3927del n.2528del c.3039del (p.Thr1014LeufsTer?) c.3087del (p.Thr1030LeufsTer?) c.3147del (p.Thr1050LeufsTer?) c.2697del (p.Thr900LeufsTer?) c.999del (p.Thr334LeufsTer?) c.877-1615del (n.877-1615del) c.3048del (p.Thr1017LeufsTer?) c.3061-1615del (n.3061-1615del) c.2769del (p.Thr924LeufsTer?) c.2731-1615del (n.2731-1615del) c.1851del (p.Thr618LeufsTer?) n.3402del | ClinVar dbSNP |
13 | g.51944170C>A | CA388030004 | ATP7B | c.*894-1616G>T (n.*894-1616G>T) c.*1926G>T (n.*1926G>T) c.2561G>T (p.Gly854Val) c.3182G>T (p.Gly1061Val) c.2849G>T (p.Gly950Val) c.2930G>T (p.Gly977Val) c.2948G>T (p.Gly983Val) n.3321G>T n.3545G>T c.2117G>T (p.Gly706Val) c.1892G>T (p.Gly631Val) c.2987G>T (p.Gly996Val) n.402G>T c.1022-1616G>T c.*283G>T (n.*283G>T) n.3926G>T n.2527G>T c.3038G>T (p.Gly1013Val) c.3086G>T (p.Gly1029Val) c.3146G>T (p.Gly1049Val) c.2696G>T (p.Gly899Val) c.998G>T (p.Gly333Val) c.877-1616G>T (n.877-1616G>T) c.3047G>T (p.Gly1016Val) c.3061-1616G>T (n.3061-1616G>T) c.2768G>T (p.Gly923Val) c.2731-1616G>T (n.2731-1616G>T) c.1850G>T (p.Gly617Val) n.3401G>T | |
13 | g.51944170C= | CA2091563869 | ATP7B | c.*894-1616G= (n.*894-1616G=) c.*1926G= (n.*1926G=) c.2561G= (p.Gly854=) c.3182G= (p.Gly1061=) c.2849G= (p.Gly950=) c.2930G= (p.Gly977=) c.2948G= (p.Gly983=) n.3321G= n.3545G= c.2117G= (p.Gly706=) c.1892G= (p.Gly631=) c.2987G= (p.Gly996=) n.402G= c.1022-1616G= c.*283G= (n.*283G=) n.3926G= n.2527G= c.3038G= (p.Gly1013=) c.3086G= (p.Gly1029=) c.3146G= (p.Gly1049=) c.2696G= (p.Gly899=) c.998G= (p.Gly333=) c.877-1616G= (n.877-1616G=) c.3047G= (p.Gly1016=) c.3061-1616G= (n.3061-1616G=) c.2768G= (p.Gly923=) c.2731-1616G= (n.2731-1616G=) c.1850G= (p.Gly617=) n.3401G= | |
13 | g.51944170C>G | CA388030005 | ATP7B | c.*894-1616G>C (n.*894-1616G>C) c.*1926G>C (n.*1926G>C) c.2561G>C (p.Gly854Ala) c.3182G>C (p.Gly1061Ala) c.2849G>C (p.Gly950Ala) c.2930G>C (p.Gly977Ala) c.2948G>C (p.Gly983Ala) n.3321G>C n.3545G>C c.2117G>C (p.Gly706Ala) c.1892G>C (p.Gly631Ala) c.2987G>C (p.Gly996Ala) n.402G>C c.1022-1616G>C c.*283G>C (n.*283G>C) n.3926G>C n.2527G>C c.3038G>C (p.Gly1013Ala) c.3086G>C (p.Gly1029Ala) c.3146G>C (p.Gly1049Ala) c.2696G>C (p.Gly899Ala) c.998G>C (p.Gly333Ala) c.877-1616G>C (n.877-1616G>C) c.3047G>C (p.Gly1016Ala) c.3061-1616G>C (n.3061-1616G>C) c.2768G>C (p.Gly923Ala) c.2731-1616G>C (n.2731-1616G>C) c.1850G>C (p.Gly617Ala) n.3401G>C | |
13 | g.51944170C>T | CA6988785 | ATP7B | c.*894-1616G>A (n.*894-1616G>A) c.*1926G>A (n.*1926G>A) c.2561G>A (p.Gly854Glu) c.3182G>A (p.Gly1061Glu) c.2849G>A (p.Gly950Glu) c.2930G>A (p.Gly977Glu) c.2948G>A (p.Gly983Glu) n.3321G>A n.3545G>A c.2117G>A (p.Gly706Glu) c.1892G>A (p.Gly631Glu) c.2987G>A (p.Gly996Glu) n.402G>A c.1022-1616G>A c.*283G>A (n.*283G>A) n.3926G>A n.2527G>A c.3038G>A (p.Gly1013Glu) c.3086G>A (p.Gly1029Glu) c.3146G>A (p.Gly1049Glu) c.2696G>A (p.Gly899Glu) c.998G>A (p.Gly333Glu) c.877-1616G>A (n.877-1616G>A) c.3047G>A (p.Gly1016Glu) c.3061-1616G>A (n.3061-1616G>A) c.2768G>A (p.Gly923Glu) c.2731-1616G>A (n.2731-1616G>A) c.1850G>A (p.Gly617Glu) n.3401G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944171C>A | CA388030009 | ATP7B | c.*894-1617G>T (n.*894-1617G>T) c.*1925G>T (n.*1925G>T) c.2560G>T (p.Gly854Trp) c.3181G>T (p.Gly1061Trp) c.2848G>T (p.Gly950Trp) c.2929G>T (p.Gly977Trp) c.2947G>T (p.Gly983Trp) n.3320G>T n.3544G>T c.2116G>T (p.Gly706Trp) c.1891G>T (p.Gly631Trp) c.2986G>T (p.Gly996Trp) n.401G>T c.1022-1617G>T c.*282G>T (n.*282G>T) n.3925G>T n.2526G>T c.3037G>T (p.Gly1013Trp) c.3085G>T (p.Gly1029Trp) c.3145G>T (p.Gly1049Trp) c.2695G>T (p.Gly899Trp) c.997G>T (p.Gly333Trp) c.877-1617G>T (n.877-1617G>T) c.3046G>T (p.Gly1016Trp) c.3061-1617G>T (n.3061-1617G>T) c.2767G>T (p.Gly923Trp) c.2731-1617G>T (n.2731-1617G>T) c.1849G>T (p.Gly617Trp) n.3400G>T | |
13 | g.51944171C= | CA2091563873 | ATP7B | c.*894-1617G= (n.*894-1617G=) c.*1925G= (n.*1925G=) c.2560G= (p.Gly854=) c.3181G= (p.Gly1061=) c.2848G= (p.Gly950=) c.2929G= (p.Gly977=) c.2947G= (p.Gly983=) n.3320G= n.3544G= c.2116G= (p.Gly706=) c.1891G= (p.Gly631=) c.2986G= (p.Gly996=) n.401G= c.1022-1617G= c.*282G= (n.*282G=) n.3925G= n.2526G= c.3037G= (p.Gly1013=) c.3085G= (p.Gly1029=) c.3145G= (p.Gly1049=) c.2695G= (p.Gly899=) c.997G= (p.Gly333=) c.877-1617G= (n.877-1617G=) c.3046G= (p.Gly1016=) c.3061-1617G= (n.3061-1617G=) c.2767G= (p.Gly923=) c.2731-1617G= (n.2731-1617G=) c.1849G= (p.Gly617=) n.3400G= | |
13 | g.51944171C>G | CA388030012 | ATP7B | c.*894-1617G>C (n.*894-1617G>C) c.*1925G>C (n.*1925G>C) c.2560G>C (p.Gly854Arg) c.3181G>C (p.Gly1061Arg) c.2848G>C (p.Gly950Arg) c.2929G>C (p.Gly977Arg) c.2947G>C (p.Gly983Arg) n.3320G>C n.3544G>C c.2116G>C (p.Gly706Arg) c.1891G>C (p.Gly631Arg) c.2986G>C (p.Gly996Arg) n.401G>C c.1022-1617G>C c.*282G>C (n.*282G>C) n.3925G>C n.2526G>C c.3037G>C (p.Gly1013Arg) c.3085G>C (p.Gly1029Arg) c.3145G>C (p.Gly1049Arg) c.2695G>C (p.Gly899Arg) c.997G>C (p.Gly333Arg) c.877-1617G>C (n.877-1617G>C) c.3046G>C (p.Gly1016Arg) c.3061-1617G>C (n.3061-1617G>C) c.2767G>C (p.Gly923Arg) c.2731-1617G>C (n.2731-1617G>C) c.1849G>C (p.Gly617Arg) n.3400G>C | |
13 | g.51944171C>T | CA388030013 | ATP7B | c.*894-1617G>A (n.*894-1617G>A) c.*1925G>A (n.*1925G>A) c.2560G>A (p.Gly854Arg) c.3181G>A (p.Gly1061Arg) c.2848G>A (p.Gly950Arg) c.2929G>A (p.Gly977Arg) c.2947G>A (p.Gly983Arg) n.3320G>A n.3544G>A c.2116G>A (p.Gly706Arg) c.1891G>A (p.Gly631Arg) c.2986G>A (p.Gly996Arg) n.401G>A c.1022-1617G>A c.*282G>A (n.*282G>A) n.3925G>A n.2526G>A c.3037G>A (p.Gly1013Arg) c.3085G>A (p.Gly1029Arg) c.3145G>A (p.Gly1049Arg) c.2695G>A (p.Gly899Arg) c.997G>A (p.Gly333Arg) c.877-1617G>A (n.877-1617G>A) c.3046G>A (p.Gly1016Arg) c.3061-1617G>A (n.3061-1617G>A) c.2767G>A (p.Gly923Arg) c.2731-1617G>A (n.2731-1617G>A) c.1849G>A (p.Gly617Arg) n.3400G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944172C>A | CA483894679 | ATP7B | c.*894-1618G>T (n.*894-1618G>T) c.*1924G>T (n.*1924G>T) c.2559G>T (p.Val853=) c.3180G>T (p.Val1060=) c.2847G>T (p.Val949=) c.2928G>T (p.Val976=) c.2946G>T (p.Val982=) n.3319G>T n.3543G>T c.2115G>T (p.Val705=) c.1890G>T (p.Val630=) c.2985G>T (p.Val995=) n.400G>T c.1022-1618G>T c.*281G>T (n.*281G>T) n.3924G>T n.2525G>T c.3036G>T (p.Val1012=) c.3084G>T (p.Val1028=) c.3144G>T (p.Val1048=) c.2694G>T (p.Val898=) c.996G>T (p.Val332=) c.877-1618G>T (n.877-1618G>T) c.3045G>T (p.Val1015=) c.3061-1618G>T (n.3061-1618G>T) c.2766G>T (p.Val922=) c.2731-1618G>T (n.2731-1618G>T) c.1848G>T (p.Val616=) n.3399G>T | |
13 | g.51944172C= | CA2091563878 | ATP7B | c.*894-1618G= (n.*894-1618G=) c.*1924G= (n.*1924G=) c.2559G= (p.Val853=) c.3180G= (p.Val1060=) c.2847G= (p.Val949=) c.2928G= (p.Val976=) c.2946G= (p.Val982=) n.3319G= n.3543G= c.2115G= (p.Val705=) c.1890G= (p.Val630=) c.2985G= (p.Val995=) n.400G= c.1022-1618G= c.*281G= (n.*281G=) n.3924G= n.2525G= c.3036G= (p.Val1012=) c.3084G= (p.Val1028=) c.3144G= (p.Val1048=) c.2694G= (p.Val898=) c.996G= (p.Val332=) c.877-1618G= (n.877-1618G=) c.3045G= (p.Val1015=) c.3061-1618G= (n.3061-1618G=) c.2766G= (p.Val922=) c.2731-1618G= (n.2731-1618G=) c.1848G= (p.Val616=) n.3399G= | |
13 | g.51944172C>G | CA483894680 | ATP7B | c.*894-1618G>C (n.*894-1618G>C) c.*1924G>C (n.*1924G>C) c.2559G>C (p.Val853=) c.3180G>C (p.Val1060=) c.2847G>C (p.Val949=) c.2928G>C (p.Val976=) c.2946G>C (p.Val982=) n.3319G>C n.3543G>C c.2115G>C (p.Val705=) c.1890G>C (p.Val630=) c.2985G>C (p.Val995=) n.400G>C c.1022-1618G>C c.*281G>C (n.*281G>C) n.3924G>C n.2525G>C c.3036G>C (p.Val1012=) c.3084G>C (p.Val1028=) c.3144G>C (p.Val1048=) c.2694G>C (p.Val898=) c.996G>C (p.Val332=) c.877-1618G>C (n.877-1618G>C) c.3045G>C (p.Val1015=) c.3061-1618G>C (n.3061-1618G>C) c.2766G>C (p.Val922=) c.2731-1618G>C (n.2731-1618G>C) c.1848G>C (p.Val616=) n.3399G>C | |
13 | g.51944172C>T | CA6988786 | ATP7B | c.*894-1618G>A (n.*894-1618G>A) c.*1924G>A (n.*1924G>A) c.2559G>A (p.Val853=) c.3180G>A (p.Val1060=) c.2847G>A (p.Val949=) c.2928G>A (p.Val976=) c.2946G>A (p.Val982=) n.3319G>A n.3543G>A c.2115G>A (p.Val705=) c.1890G>A (p.Val630=) c.2985G>A (p.Val995=) n.400G>A c.1022-1618G>A c.*281G>A (n.*281G>A) n.3924G>A n.2525G>A c.3036G>A (p.Val1012=) c.3084G>A (p.Val1028=) c.3144G>A (p.Val1048=) c.2694G>A (p.Val898=) c.996G>A (p.Val332=) c.877-1618G>A (n.877-1618G>A) c.3045G>A (p.Val1015=) c.3061-1618G>A (n.3061-1618G>A) c.2766G>A (p.Val922=) c.2731-1618G>A (n.2731-1618G>A) c.1848G>A (p.Val616=) n.3399G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944173A= | CA2091563883 | ATP7B | c.*894-1619T= (n.*894-1619T=) c.*1923T= (n.*1923T=) c.2558T= (p.Val853=) c.3179T= (p.Val1060=) c.2846T= (p.Val949=) c.2927T= (p.Val976=) c.2945T= (p.Val982=) n.3318T= n.3542T= c.2114T= (p.Val705=) c.1889T= (p.Val630=) c.2984T= (p.Val995=) n.399T= c.1022-1619T= c.*280T= (n.*280T=) n.3923T= n.2524T= c.3035T= (p.Val1012=) c.3083T= (p.Val1028=) c.3143T= (p.Val1048=) c.2693T= (p.Val898=) c.995T= (p.Val332=) c.877-1619T= (n.877-1619T=) c.3044T= (p.Val1015=) c.3061-1619T= (n.3061-1619T=) c.2765T= (p.Val922=) c.2731-1619T= (n.2731-1619T=) c.1847T= (p.Val616=) n.3398T= | |
13 | g.51944173A>C | CA388030017 | ATP7B | c.*894-1619T>G (n.*894-1619T>G) c.*1923T>G (n.*1923T>G) c.2558T>G (p.Val853Gly) c.3179T>G (p.Val1060Gly) c.2846T>G (p.Val949Gly) c.2927T>G (p.Val976Gly) c.2945T>G (p.Val982Gly) n.3318T>G n.3542T>G c.2114T>G (p.Val705Gly) c.1889T>G (p.Val630Gly) c.2984T>G (p.Val995Gly) n.399T>G c.1022-1619T>G c.*280T>G (n.*280T>G) n.3923T>G n.2524T>G c.3035T>G (p.Val1012Gly) c.3083T>G (p.Val1028Gly) c.3143T>G (p.Val1048Gly) c.2693T>G (p.Val898Gly) c.995T>G (p.Val332Gly) c.877-1619T>G (n.877-1619T>G) c.3044T>G (p.Val1015Gly) c.3061-1619T>G (n.3061-1619T>G) c.2765T>G (p.Val922Gly) c.2731-1619T>G (n.2731-1619T>G) c.1847T>G (p.Val616Gly) n.3398T>G | dbSNP |
13 | g.51944173A>G | CA6988787 | ATP7B | c.*894-1619T>C (n.*894-1619T>C) c.*1923T>C (n.*1923T>C) c.2558T>C (p.Val853Ala) c.3179T>C (p.Val1060Ala) c.2846T>C (p.Val949Ala) c.2927T>C (p.Val976Ala) c.2945T>C (p.Val982Ala) n.3318T>C n.3542T>C c.2114T>C (p.Val705Ala) c.1889T>C (p.Val630Ala) c.2984T>C (p.Val995Ala) n.399T>C c.1022-1619T>C c.*280T>C (n.*280T>C) n.3923T>C n.2524T>C c.3035T>C (p.Val1012Ala) c.3083T>C (p.Val1028Ala) c.3143T>C (p.Val1048Ala) c.2693T>C (p.Val898Ala) c.995T>C (p.Val332Ala) c.877-1619T>C (n.877-1619T>C) c.3044T>C (p.Val1015Ala) c.3061-1619T>C (n.3061-1619T>C) c.2765T>C (p.Val922Ala) c.2731-1619T>C (n.2731-1619T>C) c.1847T>C (p.Val616Ala) n.3398T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944173A>T | CA388030019 | ATP7B | c.*894-1619T>A (n.*894-1619T>A) c.*1923T>A (n.*1923T>A) c.2558T>A (p.Val853Glu) c.3179T>A (p.Val1060Glu) c.2846T>A (p.Val949Glu) c.2927T>A (p.Val976Glu) c.2945T>A (p.Val982Glu) n.3318T>A n.3542T>A c.2114T>A (p.Val705Glu) c.1889T>A (p.Val630Glu) c.2984T>A (p.Val995Glu) n.399T>A c.1022-1619T>A c.*280T>A (n.*280T>A) n.3923T>A n.2524T>A c.3035T>A (p.Val1012Glu) c.3083T>A (p.Val1028Glu) c.3143T>A (p.Val1048Glu) c.2693T>A (p.Val898Glu) c.995T>A (p.Val332Glu) c.877-1619T>A (n.877-1619T>A) c.3044T>A (p.Val1015Glu) c.3061-1619T>A (n.3061-1619T>A) c.2765T>A (p.Val922Glu) c.2731-1619T>A (n.2731-1619T>A) c.1847T>A (p.Val616Glu) n.3398T>A | |
13 | g.51944174C>A | CA388030025 | ATP7B | c.*894-1620G>T (n.*894-1620G>T) c.*1922G>T (n.*1922G>T) c.2557G>T (p.Val853Leu) c.3178G>T (p.Val1060Leu) c.2845G>T (p.Val949Leu) c.2926G>T (p.Val976Leu) c.2944G>T (p.Val982Leu) n.3317G>T n.3541G>T c.2113G>T (p.Val705Leu) c.1888G>T (p.Val630Leu) c.2983G>T (p.Val995Leu) n.398G>T c.1022-1620G>T c.*279G>T (n.*279G>T) n.3922G>T n.2523G>T c.3034G>T (p.Val1012Leu) c.3082G>T (p.Val1028Leu) c.3142G>T (p.Val1048Leu) c.2692G>T (p.Val898Leu) c.994G>T (p.Val332Leu) c.877-1620G>T (n.877-1620G>T) c.3043G>T (p.Val1015Leu) c.3061-1620G>T (n.3061-1620G>T) c.2764G>T (p.Val922Leu) c.2731-1620G>T (n.2731-1620G>T) c.1846G>T (p.Val616Leu) n.3397G>T | ClinVar |
13 | g.51944174C= | CA2091563886 | ATP7B | c.*894-1620G= (n.*894-1620G=) c.*1922G= (n.*1922G=) c.2557G= (p.Val853=) c.3178G= (p.Val1060=) c.2845G= (p.Val949=) c.2926G= (p.Val976=) c.2944G= (p.Val982=) n.3317G= n.3541G= c.2113G= (p.Val705=) c.1888G= (p.Val630=) c.2983G= (p.Val995=) n.398G= c.1022-1620G= c.*279G= (n.*279G=) n.3922G= n.2523G= c.3034G= (p.Val1012=) c.3082G= (p.Val1028=) c.3142G= (p.Val1048=) c.2692G= (p.Val898=) c.994G= (p.Val332=) c.877-1620G= (n.877-1620G=) c.3043G= (p.Val1015=) c.3061-1620G= (n.3061-1620G=) c.2764G= (p.Val922=) c.2731-1620G= (n.2731-1620G=) c.1846G= (p.Val616=) n.3397G= | |
13 | g.51944174C>G | CA388030022 | ATP7B | c.*894-1620G>C (n.*894-1620G>C) c.*1922G>C (n.*1922G>C) c.2557G>C (p.Val853Leu) c.3178G>C (p.Val1060Leu) c.2845G>C (p.Val949Leu) c.2926G>C (p.Val976Leu) c.2944G>C (p.Val982Leu) n.3317G>C n.3541G>C c.2113G>C (p.Val705Leu) c.1888G>C (p.Val630Leu) c.2983G>C (p.Val995Leu) n.398G>C c.1022-1620G>C c.*279G>C (n.*279G>C) n.3922G>C n.2523G>C c.3034G>C (p.Val1012Leu) c.3082G>C (p.Val1028Leu) c.3142G>C (p.Val1048Leu) c.2692G>C (p.Val898Leu) c.994G>C (p.Val332Leu) c.877-1620G>C (n.877-1620G>C) c.3043G>C (p.Val1015Leu) c.3061-1620G>C (n.3061-1620G>C) c.2764G>C (p.Val922Leu) c.2731-1620G>C (n.2731-1620G>C) c.1846G>C (p.Val616Leu) n.3397G>C | |
13 | g.51944174C>T | CA388030020 | ATP7B | c.*894-1620G>A (n.*894-1620G>A) c.*1922G>A (n.*1922G>A) c.2557G>A (p.Val853Met) c.3178G>A (p.Val1060Met) c.2845G>A (p.Val949Met) c.2926G>A (p.Val976Met) c.2944G>A (p.Val982Met) n.3317G>A n.3541G>A c.2113G>A (p.Val705Met) c.1888G>A (p.Val630Met) c.2983G>A (p.Val995Met) n.398G>A c.1022-1620G>A c.*279G>A (n.*279G>A) n.3922G>A n.2523G>A c.3034G>A (p.Val1012Met) c.3082G>A (p.Val1028Met) c.3142G>A (p.Val1048Met) c.2692G>A (p.Val898Met) c.994G>A (p.Val332Met) c.877-1620G>A (n.877-1620G>A) c.3043G>A (p.Val1015Met) c.3061-1620G>A (n.3061-1620G>A) c.2764G>A (p.Val922Met) c.2731-1620G>A (n.2731-1620G>A) c.1846G>A (p.Val616Met) n.3397G>A | dbSNP gnomAD v4 |
13 | g.51944175C>A | CA483894684 | ATP7B | c.*894-1621G>T (n.*894-1621G>T) c.*1921G>T (n.*1921G>T) c.2556G>T (p.Val852=) c.3177G>T (p.Val1059=) c.2844G>T (p.Val948=) c.2925G>T (p.Val975=) c.2943G>T (p.Val981=) n.3316G>T n.3540G>T c.2112G>T (p.Val704=) c.1887G>T (p.Val629=) c.2982G>T (p.Val994=) n.397G>T c.1022-1621G>T c.*278G>T (n.*278G>T) n.3921G>T n.2522G>T c.3033G>T (p.Val1011=) c.3081G>T (p.Val1027=) c.3141G>T (p.Val1047=) c.2691G>T (p.Val897=) c.993G>T (p.Val331=) c.877-1621G>T (n.877-1621G>T) c.3042G>T (p.Val1014=) c.3061-1621G>T (n.3061-1621G>T) c.2763G>T (p.Val921=) c.2731-1621G>T (n.2731-1621G>T) c.1845G>T (p.Val615=) n.3396G>T | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51944175C= | CA2091563890 | ATP7B | c.*894-1621G= (n.*894-1621G=) c.*1921G= (n.*1921G=) c.2556G= (p.Val852=) c.3177G= (p.Val1059=) c.2844G= (p.Val948=) c.2925G= (p.Val975=) c.2943G= (p.Val981=) n.3316G= n.3540G= c.2112G= (p.Val704=) c.1887G= (p.Val629=) c.2982G= (p.Val994=) n.397G= c.1022-1621G= c.*278G= (n.*278G=) n.3921G= n.2522G= c.3033G= (p.Val1011=) c.3081G= (p.Val1027=) c.3141G= (p.Val1047=) c.2691G= (p.Val897=) c.993G= (p.Val331=) c.877-1621G= (n.877-1621G=) c.3042G= (p.Val1014=) c.3061-1621G= (n.3061-1621G=) c.2763G= (p.Val921=) c.2731-1621G= (n.2731-1621G=) c.1845G= (p.Val615=) n.3396G= | |
13 | g.51944175C>G | CA6988788 | ATP7B | c.*894-1621G>C (n.*894-1621G>C) c.*1921G>C (n.*1921G>C) c.2556G>C (p.Val852=) c.3177G>C (p.Val1059=) c.2844G>C (p.Val948=) c.2925G>C (p.Val975=) c.2943G>C (p.Val981=) n.3316G>C n.3540G>C c.2112G>C (p.Val704=) c.1887G>C (p.Val629=) c.2982G>C (p.Val994=) n.397G>C c.1022-1621G>C c.*278G>C (n.*278G>C) n.3921G>C n.2522G>C c.3033G>C (p.Val1011=) c.3081G>C (p.Val1027=) c.3141G>C (p.Val1047=) c.2691G>C (p.Val897=) c.993G>C (p.Val331=) c.877-1621G>C (n.877-1621G>C) c.3042G>C (p.Val1014=) c.3061-1621G>C (n.3061-1621G>C) c.2763G>C (p.Val921=) c.2731-1621G>C (n.2731-1621G>C) c.1845G>C (p.Val615=) n.3396G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944175C>T | CA483894685 | ATP7B | c.*894-1621G>A (n.*894-1621G>A) c.*1921G>A (n.*1921G>A) c.2556G>A (p.Val852=) c.3177G>A (p.Val1059=) c.2844G>A (p.Val948=) c.2925G>A (p.Val975=) c.2943G>A (p.Val981=) n.3316G>A n.3540G>A c.2112G>A (p.Val704=) c.1887G>A (p.Val629=) c.2982G>A (p.Val994=) n.397G>A c.1022-1621G>A c.*278G>A (n.*278G>A) n.3921G>A n.2522G>A c.3033G>A (p.Val1011=) c.3081G>A (p.Val1027=) c.3141G>A (p.Val1047=) c.2691G>A (p.Val897=) c.993G>A (p.Val331=) c.877-1621G>A (n.877-1621G>A) c.3042G>A (p.Val1014=) c.3061-1621G>A (n.3061-1621G>A) c.2763G>A (p.Val921=) c.2731-1621G>A (n.2731-1621G>A) c.1845G>A (p.Val615=) n.3396G>A | |
13 | g.51944176A= | CA2091563895 | ATP7B | c.*894-1622T= (n.*894-1622T=) c.*1920T= (n.*1920T=) c.2555T= (p.Val852=) c.3176T= (p.Val1059=) c.2843T= (p.Val948=) c.2924T= (p.Val975=) c.2942T= (p.Val981=) n.3315T= n.3539T= c.2111T= (p.Val704=) c.1886T= (p.Val629=) c.2981T= (p.Val994=) n.396T= c.1022-1622T= c.*277T= (n.*277T=) n.3920T= n.2521T= c.3032T= (p.Val1011=) c.3080T= (p.Val1027=) c.3140T= (p.Val1047=) c.2690T= (p.Val897=) c.992T= (p.Val331=) c.877-1622T= (n.877-1622T=) c.3041T= (p.Val1014=) c.3061-1622T= (n.3061-1622T=) c.2762T= (p.Val921=) c.2731-1622T= (n.2731-1622T=) c.1844T= (p.Val615=) n.3395T= | |
13 | g.51944176A>C | CA388030029 | ATP7B | c.*894-1622T>G (n.*894-1622T>G) c.*1920T>G (n.*1920T>G) c.2555T>G (p.Val852Gly) c.3176T>G (p.Val1059Gly) c.2843T>G (p.Val948Gly) c.2924T>G (p.Val975Gly) c.2942T>G (p.Val981Gly) n.3315T>G n.3539T>G c.2111T>G (p.Val704Gly) c.1886T>G (p.Val629Gly) c.2981T>G (p.Val994Gly) n.396T>G c.1022-1622T>G c.*277T>G (n.*277T>G) n.3920T>G n.2521T>G c.3032T>G (p.Val1011Gly) c.3080T>G (p.Val1027Gly) c.3140T>G (p.Val1047Gly) c.2690T>G (p.Val897Gly) c.992T>G (p.Val331Gly) c.877-1622T>G (n.877-1622T>G) c.3041T>G (p.Val1014Gly) c.3061-1622T>G (n.3061-1622T>G) c.2762T>G (p.Val921Gly) c.2731-1622T>G (n.2731-1622T>G) c.1844T>G (p.Val615Gly) n.3395T>G | dbSNP |
13 | g.51944176A>G | CA388030027 | ATP7B | c.*894-1622T>C (n.*894-1622T>C) c.*1920T>C (n.*1920T>C) c.2555T>C (p.Val852Ala) c.3176T>C (p.Val1059Ala) c.2843T>C (p.Val948Ala) c.2924T>C (p.Val975Ala) c.2942T>C (p.Val981Ala) n.3315T>C n.3539T>C c.2111T>C (p.Val704Ala) c.1886T>C (p.Val629Ala) c.2981T>C (p.Val994Ala) n.396T>C c.1022-1622T>C c.*277T>C (n.*277T>C) n.3920T>C n.2521T>C c.3032T>C (p.Val1011Ala) c.3080T>C (p.Val1027Ala) c.3140T>C (p.Val1047Ala) c.2690T>C (p.Val897Ala) c.992T>C (p.Val331Ala) c.877-1622T>C (n.877-1622T>C) c.3041T>C (p.Val1014Ala) c.3061-1622T>C (n.3061-1622T>C) c.2762T>C (p.Val921Ala) c.2731-1622T>C (n.2731-1622T>C) c.1844T>C (p.Val615Ala) n.3395T>C | |
13 | g.51944176A>T | CA388030030 | ATP7B | c.*894-1622T>A (n.*894-1622T>A) c.*1920T>A (n.*1920T>A) c.2555T>A (p.Val852Glu) c.3176T>A (p.Val1059Glu) c.2843T>A (p.Val948Glu) c.2924T>A (p.Val975Glu) c.2942T>A (p.Val981Glu) n.3315T>A n.3539T>A c.2111T>A (p.Val704Glu) c.1886T>A (p.Val629Glu) c.2981T>A (p.Val994Glu) n.396T>A c.1022-1622T>A c.*277T>A (n.*277T>A) n.3920T>A n.2521T>A c.3032T>A (p.Val1011Glu) c.3080T>A (p.Val1027Glu) c.3140T>A (p.Val1047Glu) c.2690T>A (p.Val897Glu) c.992T>A (p.Val331Glu) c.877-1622T>A (n.877-1622T>A) c.3041T>A (p.Val1014Glu) c.3061-1622T>A (n.3061-1622T>A) c.2762T>A (p.Val921Glu) c.2731-1622T>A (n.2731-1622T>A) c.1844T>A (p.Val615Glu) n.3395T>A | |
13 | g.51944177C>A | CA388030032 | ATP7B | c.*894-1623G>T (n.*894-1623G>T) c.*1919G>T (n.*1919G>T) c.2554G>T (p.Val852Leu) c.3175G>T (p.Val1059Leu) c.2842G>T (p.Val948Leu) c.2923G>T (p.Val975Leu) c.2941G>T (p.Val981Leu) n.3314G>T n.3538G>T c.2110G>T (p.Val704Leu) c.1885G>T (p.Val629Leu) c.2980G>T (p.Val994Leu) n.395G>T c.1022-1623G>T c.*276G>T (n.*276G>T) n.3919G>T n.2520G>T c.3031G>T (p.Val1011Leu) c.3079G>T (p.Val1027Leu) c.3139G>T (p.Val1047Leu) c.2689G>T (p.Val897Leu) c.991G>T (p.Val331Leu) c.877-1623G>T (n.877-1623G>T) c.3040G>T (p.Val1014Leu) c.3061-1623G>T (n.3061-1623G>T) c.2761G>T (p.Val921Leu) c.2731-1623G>T (n.2731-1623G>T) c.1843G>T (p.Val615Leu) n.3394G>T | |
13 | g.51944177C= | CA2091563896 | ATP7B | c.*894-1623G= (n.*894-1623G=) c.*1919G= (n.*1919G=) c.2554G= (p.Val852=) c.3175G= (p.Val1059=) c.2842G= (p.Val948=) c.2923G= (p.Val975=) c.2941G= (p.Val981=) n.3314G= n.3538G= c.2110G= (p.Val704=) c.1885G= (p.Val629=) c.2980G= (p.Val994=) n.395G= c.1022-1623G= c.*276G= (n.*276G=) n.3919G= n.2520G= c.3031G= (p.Val1011=) c.3079G= (p.Val1027=) c.3139G= (p.Val1047=) c.2689G= (p.Val897=) c.991G= (p.Val331=) c.877-1623G= (n.877-1623G=) c.3040G= (p.Val1014=) c.3061-1623G= (n.3061-1623G=) c.2761G= (p.Val921=) c.2731-1623G= (n.2731-1623G=) c.1843G= (p.Val615=) n.3394G= | |
13 | g.51944177C>G | CA388030033 | ATP7B | c.*894-1623G>C (n.*894-1623G>C) c.*1919G>C (n.*1919G>C) c.2554G>C (p.Val852Leu) c.3175G>C (p.Val1059Leu) c.2842G>C (p.Val948Leu) c.2923G>C (p.Val975Leu) c.2941G>C (p.Val981Leu) n.3314G>C n.3538G>C c.2110G>C (p.Val704Leu) c.1885G>C (p.Val629Leu) c.2980G>C (p.Val994Leu) n.395G>C c.1022-1623G>C c.*276G>C (n.*276G>C) n.3919G>C n.2520G>C c.3031G>C (p.Val1011Leu) c.3079G>C (p.Val1027Leu) c.3139G>C (p.Val1047Leu) c.2689G>C (p.Val897Leu) c.991G>C (p.Val331Leu) c.877-1623G>C (n.877-1623G>C) c.3040G>C (p.Val1014Leu) c.3061-1623G>C (n.3061-1623G>C) c.2761G>C (p.Val921Leu) c.2731-1623G>C (n.2731-1623G>C) c.1843G>C (p.Val615Leu) n.3394G>C | dbSNP gnomAD v4 |
13 | g.51944177C>T | CA6988789 | ATP7B | c.*894-1623G>A (n.*894-1623G>A) c.*1919G>A (n.*1919G>A) c.2554G>A (p.Val852Met) c.3175G>A (p.Val1059Met) c.2842G>A (p.Val948Met) c.2923G>A (p.Val975Met) c.2941G>A (p.Val981Met) n.3314G>A n.3538G>A c.2110G>A (p.Val704Met) c.1885G>A (p.Val629Met) c.2980G>A (p.Val994Met) n.395G>A c.1022-1623G>A c.*276G>A (n.*276G>A) n.3919G>A n.2520G>A c.3031G>A (p.Val1011Met) c.3079G>A (p.Val1027Met) c.3139G>A (p.Val1047Met) c.2689G>A (p.Val897Met) c.991G>A (p.Val331Met) c.877-1623G>A (n.877-1623G>A) c.3040G>A (p.Val1014Met) c.3061-1623G>A (n.3061-1623G>A) c.2761G>A (p.Val921Met) c.2731-1623G>A (n.2731-1623G>A) c.1843G>A (p.Val615Met) n.3394G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944178A>C | CA483894689 | ATP7B | c.*894-1624T>G (n.*894-1624T>G) c.*1918T>G (n.*1918T>G) c.2553T>G (p.Ala851=) c.3174T>G (p.Ala1058=) c.2841T>G (p.Ala947=) c.2922T>G (p.Ala974=) c.2940T>G (p.Ala980=) n.3313T>G n.3537T>G c.2109T>G (p.Ala703=) c.1884T>G (p.Ala628=) c.2979T>G (p.Ala993=) n.394T>G c.1022-1624T>G c.*275T>G (n.*275T>G) n.3918T>G n.2519T>G c.3030T>G (p.Ala1010=) c.3078T>G (p.Ala1026=) c.3138T>G (p.Ala1046=) c.2688T>G (p.Ala896=) c.990T>G (p.Ala330=) c.877-1624T>G (n.877-1624T>G) c.3039T>G (p.Ala1013=) c.3061-1624T>G (n.3061-1624T>G) c.2760T>G (p.Ala920=) c.2731-1624T>G (n.2731-1624T>G) c.1842T>G (p.Ala614=) n.3393T>G | |
13 | g.51944178A>G | CA483894690 | ATP7B | c.*894-1624T>C (n.*894-1624T>C) c.*1918T>C (n.*1918T>C) c.2553T>C (p.Ala851=) c.3174T>C (p.Ala1058=) c.2841T>C (p.Ala947=) c.2922T>C (p.Ala974=) c.2940T>C (p.Ala980=) n.3313T>C n.3537T>C c.2109T>C (p.Ala703=) c.1884T>C (p.Ala628=) c.2979T>C (p.Ala993=) n.394T>C c.1022-1624T>C c.*275T>C (n.*275T>C) n.3918T>C n.2519T>C c.3030T>C (p.Ala1010=) c.3078T>C (p.Ala1026=) c.3138T>C (p.Ala1046=) c.2688T>C (p.Ala896=) c.990T>C (p.Ala330=) c.877-1624T>C (n.877-1624T>C) c.3039T>C (p.Ala1013=) c.3061-1624T>C (n.3061-1624T>C) c.2760T>C (p.Ala920=) c.2731-1624T>C (n.2731-1624T>C) c.1842T>C (p.Ala614=) n.3393T>C | ClinVar dbSNP |
13 | g.51944178A>T | CA483894691 | ATP7B | c.*894-1624T>A (n.*894-1624T>A) c.*1918T>A (n.*1918T>A) c.2553T>A (p.Ala851=) c.3174T>A (p.Ala1058=) c.2841T>A (p.Ala947=) c.2922T>A (p.Ala974=) c.2940T>A (p.Ala980=) n.3313T>A n.3537T>A c.2109T>A (p.Ala703=) c.1884T>A (p.Ala628=) c.2979T>A (p.Ala993=) n.394T>A c.1022-1624T>A c.*275T>A (n.*275T>A) n.3918T>A n.2519T>A c.3030T>A (p.Ala1010=) c.3078T>A (p.Ala1026=) c.3138T>A (p.Ala1046=) c.2688T>A (p.Ala896=) c.990T>A (p.Ala330=) c.877-1624T>A (n.877-1624T>A) c.3039T>A (p.Ala1013=) c.3061-1624T>A (n.3061-1624T>A) c.2760T>A (p.Ala920=) c.2731-1624T>A (n.2731-1624T>A) c.1842T>A (p.Ala614=) n.3393T>A | |
13 | g.51944179G>A | CA388030034 | ATP7B | c.*894-1625C>T (n.*894-1625C>T) c.*1917C>T (n.*1917C>T) c.2552C>T (p.Ala851Val) c.3173C>T (p.Ala1058Val) c.2840C>T (p.Ala947Val) c.2921C>T (p.Ala974Val) c.2939C>T (p.Ala980Val) n.3312C>T n.3536C>T c.2108C>T (p.Ala703Val) c.1883C>T (p.Ala628Val) c.2978C>T (p.Ala993Val) n.393C>T c.1022-1625C>T c.*274C>T (n.*274C>T) n.3917C>T n.2518C>T c.3029C>T (p.Ala1010Val) c.3077C>T (p.Ala1026Val) c.3137C>T (p.Ala1046Val) c.2687C>T (p.Ala896Val) c.989C>T (p.Ala330Val) c.877-1625C>T (n.877-1625C>T) c.3038C>T (p.Ala1013Val) c.3061-1625C>T (n.3061-1625C>T) c.2759C>T (p.Ala920Val) c.2731-1625C>T (n.2731-1625C>T) c.1841C>T (p.Ala614Val) n.3392C>T | gnomAD v4 |
13 | g.51944179G>C | CA388030035 | ATP7B | c.*894-1625C>G (n.*894-1625C>G) c.*1917C>G (n.*1917C>G) c.2552C>G (p.Ala851Gly) c.3173C>G (p.Ala1058Gly) c.2840C>G (p.Ala947Gly) c.2921C>G (p.Ala974Gly) c.2939C>G (p.Ala980Gly) n.3312C>G n.3536C>G c.2108C>G (p.Ala703Gly) c.1883C>G (p.Ala628Gly) c.2978C>G (p.Ala993Gly) n.393C>G c.1022-1625C>G c.*274C>G (n.*274C>G) n.3917C>G n.2518C>G c.3029C>G (p.Ala1010Gly) c.3077C>G (p.Ala1026Gly) c.3137C>G (p.Ala1046Gly) c.2687C>G (p.Ala896Gly) c.989C>G (p.Ala330Gly) c.877-1625C>G (n.877-1625C>G) c.3038C>G (p.Ala1013Gly) c.3061-1625C>G (n.3061-1625C>G) c.2759C>G (p.Ala920Gly) c.2731-1625C>G (n.2731-1625C>G) c.1841C>G (p.Ala614Gly) n.3392C>G | |
13 | g.51944179G>T | CA388030036 | ATP7B | c.*894-1625C>A (n.*894-1625C>A) c.*1917C>A (n.*1917C>A) c.2552C>A (p.Ala851Asp) c.3173C>A (p.Ala1058Asp) c.2840C>A (p.Ala947Asp) c.2921C>A (p.Ala974Asp) c.2939C>A (p.Ala980Asp) n.3312C>A n.3536C>A c.2108C>A (p.Ala703Asp) c.1883C>A (p.Ala628Asp) c.2978C>A (p.Ala993Asp) n.393C>A c.1022-1625C>A c.*274C>A (n.*274C>A) n.3917C>A n.2518C>A c.3029C>A (p.Ala1010Asp) c.3077C>A (p.Ala1026Asp) c.3137C>A (p.Ala1046Asp) c.2687C>A (p.Ala896Asp) c.989C>A (p.Ala330Asp) c.877-1625C>A (n.877-1625C>A) c.3038C>A (p.Ala1013Asp) c.3061-1625C>A (n.3061-1625C>A) c.2759C>A (p.Ala920Asp) c.2731-1625C>A (n.2731-1625C>A) c.1841C>A (p.Ala614Asp) n.3392C>A | |
13 | g.51944180C>A | CA388030039 | ATP7B | c.*894-1626G>T (n.*894-1626G>T) c.*1916G>T (n.*1916G>T) c.2551G>T (p.Ala851Ser) c.3172G>T (p.Ala1058Ser) c.2839G>T (p.Ala947Ser) c.2920G>T (p.Ala974Ser) c.2938G>T (p.Ala980Ser) n.3311G>T n.3535G>T c.2107G>T (p.Ala703Ser) c.1882G>T (p.Ala628Ser) c.2977G>T (p.Ala993Ser) n.392G>T c.1022-1626G>T c.*273G>T (n.*273G>T) n.3916G>T n.2517G>T c.3028G>T (p.Ala1010Ser) c.3076G>T (p.Ala1026Ser) c.3136G>T (p.Ala1046Ser) c.2686G>T (p.Ala896Ser) c.988G>T (p.Ala330Ser) c.877-1626G>T (n.877-1626G>T) c.3037G>T (p.Ala1013Ser) c.3061-1626G>T (n.3061-1626G>T) c.2758G>T (p.Ala920Ser) c.2731-1626G>T (n.2731-1626G>T) c.1840G>T (p.Ala614Ser) n.3391G>T | |
13 | g.51944180C>G | CA388030041 | ATP7B | c.*894-1626G>C (n.*894-1626G>C) c.*1916G>C (n.*1916G>C) c.2551G>C (p.Ala851Pro) c.3172G>C (p.Ala1058Pro) c.2839G>C (p.Ala947Pro) c.2920G>C (p.Ala974Pro) c.2938G>C (p.Ala980Pro) n.3311G>C n.3535G>C c.2107G>C (p.Ala703Pro) c.1882G>C (p.Ala628Pro) c.2977G>C (p.Ala993Pro) n.392G>C c.1022-1626G>C c.*273G>C (n.*273G>C) n.3916G>C n.2517G>C c.3028G>C (p.Ala1010Pro) c.3076G>C (p.Ala1026Pro) c.3136G>C (p.Ala1046Pro) c.2686G>C (p.Ala896Pro) c.988G>C (p.Ala330Pro) c.877-1626G>C (n.877-1626G>C) c.3037G>C (p.Ala1013Pro) c.3061-1626G>C (n.3061-1626G>C) c.2758G>C (p.Ala920Pro) c.2731-1626G>C (n.2731-1626G>C) c.1840G>C (p.Ala614Pro) n.3391G>C | |
13 | g.51944180C>T | CA388030044 | ATP7B | c.*894-1626G>A (n.*894-1626G>A) c.*1916G>A (n.*1916G>A) c.2551G>A (p.Ala851Thr) c.3172G>A (p.Ala1058Thr) c.2839G>A (p.Ala947Thr) c.2920G>A (p.Ala974Thr) c.2938G>A (p.Ala980Thr) n.3311G>A n.3535G>A c.2107G>A (p.Ala703Thr) c.1882G>A (p.Ala628Thr) c.2977G>A (p.Ala993Thr) n.392G>A c.1022-1626G>A c.*273G>A (n.*273G>A) n.3916G>A n.2517G>A c.3028G>A (p.Ala1010Thr) c.3076G>A (p.Ala1026Thr) c.3136G>A (p.Ala1046Thr) c.2686G>A (p.Ala896Thr) c.988G>A (p.Ala330Thr) c.877-1626G>A (n.877-1626G>A) c.3037G>A (p.Ala1013Thr) c.3061-1626G>A (n.3061-1626G>A) c.2758G>A (p.Ala920Thr) c.2731-1626G>A (n.2731-1626G>A) c.1840G>A (p.Ala614Thr) n.3391G>A | |
13 | g.51944181C>A | CA483894692 | ATP7B | c.*894-1627G>T (n.*894-1627G>T) c.*1915G>T (n.*1915G>T) c.2550G>T (p.Leu850=) c.3171G>T (p.Leu1057=) c.2838G>T (p.Leu946=) c.2919G>T (p.Leu973=) c.2937G>T (p.Leu979=) n.3310G>T n.3534G>T c.2106G>T (p.Leu702=) c.1881G>T (p.Leu627=) c.2976G>T (p.Leu992=) n.391G>T c.1022-1627G>T c.*272G>T (n.*272G>T) n.3915G>T n.2516G>T c.3027G>T (p.Leu1009=) c.3075G>T (p.Leu1025=) c.3135G>T (p.Leu1045=) c.2685G>T (p.Leu895=) c.987G>T (p.Leu329=) c.877-1627G>T (n.877-1627G>T) c.3036G>T (p.Leu1012=) c.3061-1627G>T (n.3061-1627G>T) c.2757G>T (p.Leu919=) c.2731-1627G>T (n.2731-1627G>T) c.1839G>T (p.Leu613=) n.3390G>T | |
13 | g.51944181C>G | CA483894693 | ATP7B | c.*894-1627G>C (n.*894-1627G>C) c.*1915G>C (n.*1915G>C) c.2550G>C (p.Leu850=) c.3171G>C (p.Leu1057=) c.2838G>C (p.Leu946=) c.2919G>C (p.Leu973=) c.2937G>C (p.Leu979=) n.3310G>C n.3534G>C c.2106G>C (p.Leu702=) c.1881G>C (p.Leu627=) c.2976G>C (p.Leu992=) n.391G>C c.1022-1627G>C c.*272G>C (n.*272G>C) n.3915G>C n.2516G>C c.3027G>C (p.Leu1009=) c.3075G>C (p.Leu1025=) c.3135G>C (p.Leu1045=) c.2685G>C (p.Leu895=) c.987G>C (p.Leu329=) c.877-1627G>C (n.877-1627G>C) c.3036G>C (p.Leu1012=) c.3061-1627G>C (n.3061-1627G>C) c.2757G>C (p.Leu919=) c.2731-1627G>C (n.2731-1627G>C) c.1839G>C (p.Leu613=) n.3390G>C | |
13 | g.51944181C>T | CA483894694 | ATP7B | c.*894-1627G>A (n.*894-1627G>A) c.*1915G>A (n.*1915G>A) c.2550G>A (p.Leu850=) c.3171G>A (p.Leu1057=) c.2838G>A (p.Leu946=) c.2919G>A (p.Leu973=) c.2937G>A (p.Leu979=) n.3310G>A n.3534G>A c.2106G>A (p.Leu702=) c.1881G>A (p.Leu627=) c.2976G>A (p.Leu992=) n.391G>A c.1022-1627G>A c.*272G>A (n.*272G>A) n.3915G>A n.2516G>A c.3027G>A (p.Leu1009=) c.3075G>A (p.Leu1025=) c.3135G>A (p.Leu1045=) c.2685G>A (p.Leu895=) c.987G>A (p.Leu329=) c.877-1627G>A (n.877-1627G>A) c.3036G>A (p.Leu1012=) c.3061-1627G>A (n.3061-1627G>A) c.2757G>A (p.Leu919=) c.2731-1627G>A (n.2731-1627G>A) c.1839G>A (p.Leu613=) n.3390G>A | |
13 | g.51944182A= | CA2091563901 | ATP7B | c.*894-1628T= (n.*894-1628T=) c.*1914T= (n.*1914T=) c.2549T= (p.Leu850=) c.3170T= (p.Leu1057=) c.2837T= (p.Leu946=) c.2918T= (p.Leu973=) c.2936T= (p.Leu979=) n.3309T= n.3533T= c.2105T= (p.Leu702=) c.1880T= (p.Leu627=) c.2975T= (p.Leu992=) n.390T= c.1022-1628T= c.*271T= (n.*271T=) n.3914T= n.2515T= c.3026T= (p.Leu1009=) c.3074T= (p.Leu1025=) c.3134T= (p.Leu1045=) c.2684T= (p.Leu895=) c.986T= (p.Leu329=) c.877-1628T= (n.877-1628T=) c.3035T= (p.Leu1012=) c.3061-1628T= (n.3061-1628T=) c.2756T= (p.Leu919=) c.2731-1628T= (n.2731-1628T=) c.1838T= (p.Leu613=) n.3389T= | |
13 | g.51944182A>C | CA388030046 | ATP7B | c.*894-1628T>G (n.*894-1628T>G) c.*1914T>G (n.*1914T>G) c.2549T>G (p.Leu850Arg) c.3170T>G (p.Leu1057Arg) c.2837T>G (p.Leu946Arg) c.2918T>G (p.Leu973Arg) c.2936T>G (p.Leu979Arg) n.3309T>G n.3533T>G c.2105T>G (p.Leu702Arg) c.1880T>G (p.Leu627Arg) c.2975T>G (p.Leu992Arg) n.390T>G c.1022-1628T>G c.*271T>G (n.*271T>G) n.3914T>G n.2515T>G c.3026T>G (p.Leu1009Arg) c.3074T>G (p.Leu1025Arg) c.3134T>G (p.Leu1045Arg) c.2684T>G (p.Leu895Arg) c.986T>G (p.Leu329Arg) c.877-1628T>G (n.877-1628T>G) c.3035T>G (p.Leu1012Arg) c.3061-1628T>G (n.3061-1628T>G) c.2756T>G (p.Leu919Arg) c.2731-1628T>G (n.2731-1628T>G) c.1838T>G (p.Leu613Arg) n.3389T>G | |
13 | g.51944182A>G | CA6988790 | ATP7B | c.*894-1628T>C (n.*894-1628T>C) c.*1914T>C (n.*1914T>C) c.2549T>C (p.Leu850Pro) c.3170T>C (p.Leu1057Pro) c.2837T>C (p.Leu946Pro) c.2918T>C (p.Leu973Pro) c.2936T>C (p.Leu979Pro) n.3309T>C n.3533T>C c.2105T>C (p.Leu702Pro) c.1880T>C (p.Leu627Pro) c.2975T>C (p.Leu992Pro) n.390T>C c.1022-1628T>C c.*271T>C (n.*271T>C) n.3914T>C n.2515T>C c.3026T>C (p.Leu1009Pro) c.3074T>C (p.Leu1025Pro) c.3134T>C (p.Leu1045Pro) c.2684T>C (p.Leu895Pro) c.986T>C (p.Leu329Pro) c.877-1628T>C (n.877-1628T>C) c.3035T>C (p.Leu1012Pro) c.3061-1628T>C (n.3061-1628T>C) c.2756T>C (p.Leu919Pro) c.2731-1628T>C (n.2731-1628T>C) c.1838T>C (p.Leu613Pro) n.3389T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944182A>T | CA388030048 | ATP7B | c.*894-1628T>A (n.*894-1628T>A) c.*1914T>A (n.*1914T>A) c.2549T>A (p.Leu850Gln) c.3170T>A (p.Leu1057Gln) c.2837T>A (p.Leu946Gln) c.2918T>A (p.Leu973Gln) c.2936T>A (p.Leu979Gln) n.3309T>A n.3533T>A c.2105T>A (p.Leu702Gln) c.1880T>A (p.Leu627Gln) c.2975T>A (p.Leu992Gln) n.390T>A c.1022-1628T>A c.*271T>A (n.*271T>A) n.3914T>A n.2515T>A c.3026T>A (p.Leu1009Gln) c.3074T>A (p.Leu1025Gln) c.3134T>A (p.Leu1045Gln) c.2684T>A (p.Leu895Gln) c.986T>A (p.Leu329Gln) c.877-1628T>A (n.877-1628T>A) c.3035T>A (p.Leu1012Gln) c.3061-1628T>A (n.3061-1628T>A) c.2756T>A (p.Leu919Gln) c.2731-1628T>A (n.2731-1628T>A) c.1838T>A (p.Leu613Gln) n.3389T>A | |
13 | g.51944183G>A | CA171308 | ATP7B | c.*894-1629C>T (n.*894-1629C>T) c.*1913C>T (n.*1913C>T) c.2548C>T (p.Leu850=) c.3169C>T (p.Leu1057=) c.2836C>T (p.Leu946=) c.2917C>T (p.Leu973=) c.2935C>T (p.Leu979=) n.3308C>T n.3532C>T c.2104C>T (p.Leu702=) c.1879C>T (p.Leu627=) c.2974C>T (p.Leu992=) n.389C>T c.1022-1629C>T c.*270C>T (n.*270C>T) n.3913C>T n.2514C>T c.3025C>T (p.Leu1009=) c.3073C>T (p.Leu1025=) c.3133C>T (p.Leu1045=) c.2683C>T (p.Leu895=) c.985C>T (p.Leu329=) c.877-1629C>T (n.877-1629C>T) c.3034C>T (p.Leu1012=) c.3061-1629C>T (n.3061-1629C>T) c.2755C>T (p.Leu919=) c.2731-1629C>T (n.2731-1629C>T) c.1837C>T (p.Leu613=) n.3388C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944183G>C | CA388030051 | ATP7B | c.*894-1629C>G (n.*894-1629C>G) c.*1913C>G (n.*1913C>G) c.2548C>G (p.Leu850Val) c.3169C>G (p.Leu1057Val) c.2836C>G (p.Leu946Val) c.2917C>G (p.Leu973Val) c.2935C>G (p.Leu979Val) n.3308C>G n.3532C>G c.2104C>G (p.Leu702Val) c.1879C>G (p.Leu627Val) c.2974C>G (p.Leu992Val) n.389C>G c.1022-1629C>G c.*270C>G (n.*270C>G) n.3913C>G n.2514C>G c.3025C>G (p.Leu1009Val) c.3073C>G (p.Leu1025Val) c.3133C>G (p.Leu1045Val) c.2683C>G (p.Leu895Val) c.985C>G (p.Leu329Val) c.877-1629C>G (n.877-1629C>G) c.3034C>G (p.Leu1012Val) c.3061-1629C>G (n.3061-1629C>G) c.2755C>G (p.Leu919Val) c.2731-1629C>G (n.2731-1629C>G) c.1837C>G (p.Leu613Val) n.3388C>G | |
13 | g.51944183G= | CA2091563903 | ATP7B | c.*894-1629C= (n.*894-1629C=) c.*1913C= (n.*1913C=) c.2548C= (p.Leu850=) c.3169C= (p.Leu1057=) c.2836C= (p.Leu946=) c.2917C= (p.Leu973=) c.2935C= (p.Leu979=) n.3308C= n.3532C= c.2104C= (p.Leu702=) c.1879C= (p.Leu627=) c.2974C= (p.Leu992=) n.389C= c.1022-1629C= c.*270C= (n.*270C=) n.3913C= n.2514C= c.3025C= (p.Leu1009=) c.3073C= (p.Leu1025=) c.3133C= (p.Leu1045=) c.2683C= (p.Leu895=) c.985C= (p.Leu329=) c.877-1629C= (n.877-1629C=) c.3034C= (p.Leu1012=) c.3061-1629C= (n.3061-1629C=) c.2755C= (p.Leu919=) c.2731-1629C= (n.2731-1629C=) c.1837C= (p.Leu613=) n.3388C= | |
13 | g.51944183G>T | CA388030053 | ATP7B | c.*894-1629C>A (n.*894-1629C>A) c.*1913C>A (n.*1913C>A) c.2548C>A (p.Leu850Met) c.3169C>A (p.Leu1057Met) c.2836C>A (p.Leu946Met) c.2917C>A (p.Leu973Met) c.2935C>A (p.Leu979Met) n.3308C>A n.3532C>A c.2104C>A (p.Leu702Met) c.1879C>A (p.Leu627Met) c.2974C>A (p.Leu992Met) n.389C>A c.1022-1629C>A c.*270C>A (n.*270C>A) n.3913C>A n.2514C>A c.3025C>A (p.Leu1009Met) c.3073C>A (p.Leu1025Met) c.3133C>A (p.Leu1045Met) c.2683C>A (p.Leu895Met) c.985C>A (p.Leu329Met) c.877-1629C>A (n.877-1629C>A) c.3034C>A (p.Leu1012Met) c.3061-1629C>A (n.3061-1629C>A) c.2755C>A (p.Leu919Met) c.2731-1629C>A (n.2731-1629C>A) c.1837C>A (p.Leu613Met) n.3388C>A | |
13 | g.51944184A>C | CA483894695 | ATP7B | c.*894-1630T>G (n.*894-1630T>G) c.*1912T>G (n.*1912T>G) c.2547T>G (p.Val849=) c.3168T>G (p.Val1056=) c.2835T>G (p.Val945=) c.2916T>G (p.Val972=) c.2934T>G (p.Val978=) n.3307T>G n.3531T>G c.2103T>G (p.Val701=) c.1878T>G (p.Val626=) c.2973T>G (p.Val991=) n.388T>G c.1022-1630T>G c.*269T>G (n.*269T>G) n.3912T>G n.2513T>G c.3024T>G (p.Val1008=) c.3072T>G (p.Val1024=) c.3132T>G (p.Val1044=) c.2682T>G (p.Val894=) c.984T>G (p.Val328=) c.877-1630T>G (n.877-1630T>G) c.3033T>G (p.Val1011=) c.3061-1630T>G (n.3061-1630T>G) c.2754T>G (p.Val918=) c.2731-1630T>G (n.2731-1630T>G) c.1836T>G (p.Val612=) n.3387T>G | |
13 | g.51944184A>G | CA483894696 | ATP7B | c.*894-1630T>C (n.*894-1630T>C) c.*1912T>C (n.*1912T>C) c.2547T>C (p.Val849=) c.3168T>C (p.Val1056=) c.2835T>C (p.Val945=) c.2916T>C (p.Val972=) c.2934T>C (p.Val978=) n.3307T>C n.3531T>C c.2103T>C (p.Val701=) c.1878T>C (p.Val626=) c.2973T>C (p.Val991=) n.388T>C c.1022-1630T>C c.*269T>C (n.*269T>C) n.3912T>C n.2513T>C c.3024T>C (p.Val1008=) c.3072T>C (p.Val1024=) c.3132T>C (p.Val1044=) c.2682T>C (p.Val894=) c.984T>C (p.Val328=) c.877-1630T>C (n.877-1630T>C) c.3033T>C (p.Val1011=) c.3061-1630T>C (n.3061-1630T>C) c.2754T>C (p.Val918=) c.2731-1630T>C (n.2731-1630T>C) c.1836T>C (p.Val612=) n.3387T>C | |
13 | g.51944184A>T | CA483894697 | ATP7B | c.*894-1630T>A (n.*894-1630T>A) c.*1912T>A (n.*1912T>A) c.2547T>A (p.Val849=) c.3168T>A (p.Val1056=) c.2835T>A (p.Val945=) c.2916T>A (p.Val972=) c.2934T>A (p.Val978=) n.3307T>A n.3531T>A c.2103T>A (p.Val701=) c.1878T>A (p.Val626=) c.2973T>A (p.Val991=) n.388T>A c.1022-1630T>A c.*269T>A (n.*269T>A) n.3912T>A n.2513T>A c.3024T>A (p.Val1008=) c.3072T>A (p.Val1024=) c.3132T>A (p.Val1044=) c.2682T>A (p.Val894=) c.984T>A (p.Val328=) c.877-1630T>A (n.877-1630T>A) c.3033T>A (p.Val1011=) c.3061-1630T>A (n.3061-1630T>A) c.2754T>A (p.Val918=) c.2731-1630T>A (n.2731-1630T>A) c.1836T>A (p.Val612=) n.3387T>A | |
13 | g.51944185del | CA2499222490 | ATP7B | c.*894-1630del (n.*894-1630del) c.*1912del (n.*1912del) c.2547del (p.Leu850TrpfsTer?) c.3168del (p.Leu1057TrpfsTer?) c.2835del (p.Leu946TrpfsTer?) c.2916del (p.Leu973TrpfsTer?) c.2934del (p.Leu979TrpfsTer?) n.3307del n.3531del c.2103del (p.Leu702TrpfsTer?) c.1878del (p.Leu627TrpfsTer?) c.2973del (p.Leu992TrpfsTer?) n.388del c.1022-1630del c.*269del (n.*269del) n.3912del n.2513del c.3024del (p.Leu1009TrpfsTer?) c.3072del (p.Leu1025TrpfsTer?) c.3132del (p.Leu1045TrpfsTer?) c.2682del (p.Leu895TrpfsTer?) c.984del (p.Leu329TrpfsTer?) c.877-1630del (n.877-1630del) c.3033del (p.Leu1012TrpfsTer?) c.3061-1630del (n.3061-1630del) c.2754del (p.Leu919TrpfsTer?) c.2731-1630del (n.2731-1630del) c.1836del (p.Leu613TrpfsTer?) n.3387del | ClinVar dbSNP |
13 | g.51944185A>C | CA388030055 | ATP7B | c.*894-1631T>G (n.*894-1631T>G) c.*1911T>G (n.*1911T>G) c.2546T>G (p.Val849Gly) c.3167T>G (p.Val1056Gly) c.2834T>G (p.Val945Gly) c.2915T>G (p.Val972Gly) c.2933T>G (p.Val978Gly) n.3306T>G n.3530T>G c.2102T>G (p.Val701Gly) c.1877T>G (p.Val626Gly) c.2972T>G (p.Val991Gly) n.387T>G c.1022-1631T>G c.*268T>G (n.*268T>G) n.3911T>G n.2512T>G c.3023T>G (p.Val1008Gly) c.3071T>G (p.Val1024Gly) c.3131T>G (p.Val1044Gly) c.2681T>G (p.Val894Gly) c.983T>G (p.Val328Gly) c.877-1631T>G (n.877-1631T>G) c.3032T>G (p.Val1011Gly) c.3061-1631T>G (n.3061-1631T>G) c.2753T>G (p.Val918Gly) c.2731-1631T>G (n.2731-1631T>G) c.1835T>G (p.Val612Gly) n.3386T>G | |
13 | g.51944185A>G | CA388030057 | ATP7B | c.*894-1631T>C (n.*894-1631T>C) c.*1911T>C (n.*1911T>C) c.2546T>C (p.Val849Ala) c.3167T>C (p.Val1056Ala) c.2834T>C (p.Val945Ala) c.2915T>C (p.Val972Ala) c.2933T>C (p.Val978Ala) n.3306T>C n.3530T>C c.2102T>C (p.Val701Ala) c.1877T>C (p.Val626Ala) c.2972T>C (p.Val991Ala) n.387T>C c.1022-1631T>C c.*268T>C (n.*268T>C) n.3911T>C n.2512T>C c.3023T>C (p.Val1008Ala) c.3071T>C (p.Val1024Ala) c.3131T>C (p.Val1044Ala) c.2681T>C (p.Val894Ala) c.983T>C (p.Val328Ala) c.877-1631T>C (n.877-1631T>C) c.3032T>C (p.Val1011Ala) c.3061-1631T>C (n.3061-1631T>C) c.2753T>C (p.Val918Ala) c.2731-1631T>C (n.2731-1631T>C) c.1835T>C (p.Val612Ala) n.3386T>C | |
13 | g.51944185A>T | CA388030060 | ATP7B | c.*894-1631T>A (n.*894-1631T>A) c.*1911T>A (n.*1911T>A) c.2546T>A (p.Val849Asp) c.3167T>A (p.Val1056Asp) c.2834T>A (p.Val945Asp) c.2915T>A (p.Val972Asp) c.2933T>A (p.Val978Asp) n.3306T>A n.3530T>A c.2102T>A (p.Val701Asp) c.1877T>A (p.Val626Asp) c.2972T>A (p.Val991Asp) n.387T>A c.1022-1631T>A c.*268T>A (n.*268T>A) n.3911T>A n.2512T>A c.3023T>A (p.Val1008Asp) c.3071T>A (p.Val1024Asp) c.3131T>A (p.Val1044Asp) c.2681T>A (p.Val894Asp) c.983T>A (p.Val328Asp) c.877-1631T>A (n.877-1631T>A) c.3032T>A (p.Val1011Asp) c.3061-1631T>A (n.3061-1631T>A) c.2753T>A (p.Val918Asp) c.2731-1631T>A (n.2731-1631T>A) c.1835T>A (p.Val612Asp) n.3386T>A | |
13 | g.51944186C>A | CA388030061 | ATP7B | c.*894-1632G>T (n.*894-1632G>T) c.*1910G>T (n.*1910G>T) c.2545G>T (p.Val849Phe) c.3166G>T (p.Val1056Phe) c.2833G>T (p.Val945Phe) c.2914G>T (p.Val972Phe) c.2932G>T (p.Val978Phe) n.3305G>T n.3529G>T c.2101G>T (p.Val701Phe) c.1876G>T (p.Val626Phe) c.2971G>T (p.Val991Phe) n.386G>T c.1022-1632G>T c.*267G>T (n.*267G>T) n.3910G>T n.2511G>T c.3022G>T (p.Val1008Phe) c.3070G>T (p.Val1024Phe) c.3130G>T (p.Val1044Phe) c.2680G>T (p.Val894Phe) c.982G>T (p.Val328Phe) c.877-1632G>T (n.877-1632G>T) c.3031G>T (p.Val1011Phe) c.3061-1632G>T (n.3061-1632G>T) c.2752G>T (p.Val918Phe) c.2731-1632G>T (n.2731-1632G>T) c.1834G>T (p.Val612Phe) n.3385G>T | |
13 | g.51944186C= | CA2091563907 | ATP7B | c.*894-1632G= (n.*894-1632G=) c.*1910G= (n.*1910G=) c.2545G= (p.Val849=) c.3166G= (p.Val1056=) c.2833G= (p.Val945=) c.2914G= (p.Val972=) c.2932G= (p.Val978=) n.3305G= n.3529G= c.2101G= (p.Val701=) c.1876G= (p.Val626=) c.2971G= (p.Val991=) n.386G= c.1022-1632G= c.*267G= (n.*267G=) n.3910G= n.2511G= c.3022G= (p.Val1008=) c.3070G= (p.Val1024=) c.3130G= (p.Val1044=) c.2680G= (p.Val894=) c.982G= (p.Val328=) c.877-1632G= (n.877-1632G=) c.3031G= (p.Val1011=) c.3061-1632G= (n.3061-1632G=) c.2752G= (p.Val918=) c.2731-1632G= (n.2731-1632G=) c.1834G= (p.Val612=) n.3385G= | |
13 | g.51944186C>G | CA388030064 | ATP7B | c.*894-1632G>C (n.*894-1632G>C) c.*1910G>C (n.*1910G>C) c.2545G>C (p.Val849Leu) c.3166G>C (p.Val1056Leu) c.2833G>C (p.Val945Leu) c.2914G>C (p.Val972Leu) c.2932G>C (p.Val978Leu) n.3305G>C n.3529G>C c.2101G>C (p.Val701Leu) c.1876G>C (p.Val626Leu) c.2971G>C (p.Val991Leu) n.386G>C c.1022-1632G>C c.*267G>C (n.*267G>C) n.3910G>C n.2511G>C c.3022G>C (p.Val1008Leu) c.3070G>C (p.Val1024Leu) c.3130G>C (p.Val1044Leu) c.2680G>C (p.Val894Leu) c.982G>C (p.Val328Leu) c.877-1632G>C (n.877-1632G>C) c.3031G>C (p.Val1011Leu) c.3061-1632G>C (n.3061-1632G>C) c.2752G>C (p.Val918Leu) c.2731-1632G>C (n.2731-1632G>C) c.1834G>C (p.Val612Leu) n.3385G>C | |
13 | g.51944186C>T | CA388030072 | ATP7B | c.*894-1632G>A (n.*894-1632G>A) c.*1910G>A (n.*1910G>A) c.2545G>A (p.Val849Ile) c.3166G>A (p.Val1056Ile) c.2833G>A (p.Val945Ile) c.2914G>A (p.Val972Ile) c.2932G>A (p.Val978Ile) n.3305G>A n.3529G>A c.2101G>A (p.Val701Ile) c.1876G>A (p.Val626Ile) c.2971G>A (p.Val991Ile) n.386G>A c.1022-1632G>A c.*267G>A (n.*267G>A) n.3910G>A n.2511G>A c.3022G>A (p.Val1008Ile) c.3070G>A (p.Val1024Ile) c.3130G>A (p.Val1044Ile) c.2680G>A (p.Val894Ile) c.982G>A (p.Val328Ile) c.877-1632G>A (n.877-1632G>A) c.3031G>A (p.Val1011Ile) c.3061-1632G>A (n.3061-1632G>A) c.2752G>A (p.Val918Ile) c.2731-1632G>A (n.2731-1632G>A) c.1834G>A (p.Val612Ile) n.3385G>A | dbSNP |
13 | g.51944187C>A | CA388030074 | ATP7B | c.*894-1633G>T (n.*894-1633G>T) c.*1909G>T (n.*1909G>T) c.2544G>T (p.Lys848Asn) c.3165G>T (p.Lys1055Asn) c.2832G>T (p.Lys944Asn) c.2913G>T (p.Lys971Asn) c.2931G>T (p.Lys977Asn) n.3304G>T n.3528G>T c.2100G>T (p.Lys700Asn) c.1875G>T (p.Lys625Asn) c.2970G>T (p.Lys990Asn) n.385G>T c.1022-1633G>T c.*266G>T (n.*266G>T) n.3909G>T n.2510G>T c.3021G>T (p.Lys1007Asn) c.3069G>T (p.Lys1023Asn) c.3129G>T (p.Lys1043Asn) c.2679G>T (p.Lys893Asn) c.981G>T (p.Lys327Asn) c.877-1633G>T (n.877-1633G>T) c.3030G>T (p.Lys1010Asn) c.3061-1633G>T (n.3061-1633G>T) c.2751G>T (p.Lys917Asn) c.2731-1633G>T (n.2731-1633G>T) c.1833G>T (p.Lys611Asn) n.3384G>T | |
13 | g.51944187C>G | CA388030077 | ATP7B | c.*894-1633G>C (n.*894-1633G>C) c.*1909G>C (n.*1909G>C) c.2544G>C (p.Lys848Asn) c.3165G>C (p.Lys1055Asn) c.2832G>C (p.Lys944Asn) c.2913G>C (p.Lys971Asn) c.2931G>C (p.Lys977Asn) n.3304G>C n.3528G>C c.2100G>C (p.Lys700Asn) c.1875G>C (p.Lys625Asn) c.2970G>C (p.Lys990Asn) n.385G>C c.1022-1633G>C c.*266G>C (n.*266G>C) n.3909G>C n.2510G>C c.3021G>C (p.Lys1007Asn) c.3069G>C (p.Lys1023Asn) c.3129G>C (p.Lys1043Asn) c.2679G>C (p.Lys893Asn) c.981G>C (p.Lys327Asn) c.877-1633G>C (n.877-1633G>C) c.3030G>C (p.Lys1010Asn) c.3061-1633G>C (n.3061-1633G>C) c.2751G>C (p.Lys917Asn) c.2731-1633G>C (n.2731-1633G>C) c.1833G>C (p.Lys611Asn) n.3384G>C | |
13 | g.51944187C>T | CA483894698 | ATP7B | c.*894-1633G>A (n.*894-1633G>A) c.*1909G>A (n.*1909G>A) c.2544G>A (p.Lys848=) c.3165G>A (p.Lys1055=) c.2832G>A (p.Lys944=) c.2913G>A (p.Lys971=) c.2931G>A (p.Lys977=) n.3304G>A n.3528G>A c.2100G>A (p.Lys700=) c.1875G>A (p.Lys625=) c.2970G>A (p.Lys990=) n.385G>A c.1022-1633G>A c.*266G>A (n.*266G>A) n.3909G>A n.2510G>A c.3021G>A (p.Lys1007=) c.3069G>A (p.Lys1023=) c.3129G>A (p.Lys1043=) c.2679G>A (p.Lys893=) c.981G>A (p.Lys327=) c.877-1633G>A (n.877-1633G>A) c.3030G>A (p.Lys1010=) c.3061-1633G>A (n.3061-1633G>A) c.2751G>A (p.Lys917=) c.2731-1633G>A (n.2731-1633G>A) c.1833G>A (p.Lys611=) n.3384G>A | |
13 | g.51944188T>A | CA388030079 | ATP7B | c.*894-1634A>T (n.*894-1634A>T) c.*1908A>T (n.*1908A>T) c.2543A>T (p.Lys848Met) c.3164A>T (p.Lys1055Met) c.2831A>T (p.Lys944Met) c.2912A>T (p.Lys971Met) c.2930A>T (p.Lys977Met) n.3303A>T n.3527A>T c.2099A>T (p.Lys700Met) c.1874A>T (p.Lys625Met) c.2969A>T (p.Lys990Met) n.384A>T c.1022-1634A>T c.*265A>T (n.*265A>T) n.3908A>T n.2509A>T c.3020A>T (p.Lys1007Met) c.3068A>T (p.Lys1023Met) c.3128A>T (p.Lys1043Met) c.2678A>T (p.Lys893Met) c.980A>T (p.Lys327Met) c.877-1634A>T (n.877-1634A>T) c.3029A>T (p.Lys1010Met) c.3061-1634A>T (n.3061-1634A>T) c.2750A>T (p.Lys917Met) c.2731-1634A>T (n.2731-1634A>T) c.1832A>T (p.Lys611Met) n.3383A>T | gnomAD v4 |
13 | g.51944188T>C | CA388030080 | ATP7B | c.*894-1634A>G (n.*894-1634A>G) c.*1908A>G (n.*1908A>G) c.2543A>G (p.Lys848Arg) c.3164A>G (p.Lys1055Arg) c.2831A>G (p.Lys944Arg) c.2912A>G (p.Lys971Arg) c.2930A>G (p.Lys977Arg) n.3303A>G n.3527A>G c.2099A>G (p.Lys700Arg) c.1874A>G (p.Lys625Arg) c.2969A>G (p.Lys990Arg) n.384A>G c.1022-1634A>G c.*265A>G (n.*265A>G) n.3908A>G n.2509A>G c.3020A>G (p.Lys1007Arg) c.3068A>G (p.Lys1023Arg) c.3128A>G (p.Lys1043Arg) c.2678A>G (p.Lys893Arg) c.980A>G (p.Lys327Arg) c.877-1634A>G (n.877-1634A>G) c.3029A>G (p.Lys1010Arg) c.3061-1634A>G (n.3061-1634A>G) c.2750A>G (p.Lys917Arg) c.2731-1634A>G (n.2731-1634A>G) c.1832A>G (p.Lys611Arg) n.3383A>G | |
13 | g.51944188T>G | CA388030087 | ATP7B | c.*894-1634A>C (n.*894-1634A>C) c.*1908A>C (n.*1908A>C) c.2543A>C (p.Lys848Thr) c.3164A>C (p.Lys1055Thr) c.2831A>C (p.Lys944Thr) c.2912A>C (p.Lys971Thr) c.2930A>C (p.Lys977Thr) n.3303A>C n.3527A>C c.2099A>C (p.Lys700Thr) c.1874A>C (p.Lys625Thr) c.2969A>C (p.Lys990Thr) n.384A>C c.1022-1634A>C c.*265A>C (n.*265A>C) n.3908A>C n.2509A>C c.3020A>C (p.Lys1007Thr) c.3068A>C (p.Lys1023Thr) c.3128A>C (p.Lys1043Thr) c.2678A>C (p.Lys893Thr) c.980A>C (p.Lys327Thr) c.877-1634A>C (n.877-1634A>C) c.3029A>C (p.Lys1010Thr) c.3061-1634A>C (n.3061-1634A>C) c.2750A>C (p.Lys917Thr) c.2731-1634A>C (n.2731-1634A>C) c.1832A>C (p.Lys611Thr) n.3383A>C | |
13 | g.51944189T>A | CA388030094 | ATP7B | c.*894-1635A>T (n.*894-1635A>T) c.*1907A>T (n.*1907A>T) c.2542A>T (p.Lys848Ter) c.3163A>T (p.Lys1055Ter) c.2830A>T (p.Lys944Ter) c.2911A>T (p.Lys971Ter) c.2929A>T (p.Lys977Ter) n.3302A>T n.3526A>T c.2098A>T (p.Lys700Ter) c.1873A>T (p.Lys625Ter) c.2968A>T (p.Lys990Ter) n.383A>T c.1022-1635A>T c.*264A>T (n.*264A>T) n.3907A>T n.2508A>T c.3019A>T (p.Lys1007Ter) c.3067A>T (p.Lys1023Ter) c.3127A>T (p.Lys1043Ter) c.2677A>T (p.Lys893Ter) c.979A>T (p.Lys327Ter) c.877-1635A>T (n.877-1635A>T) c.3028A>T (p.Lys1010Ter) c.3061-1635A>T (n.3061-1635A>T) c.2749A>T (p.Lys917Ter) c.2731-1635A>T (n.2731-1635A>T) c.1831A>T (p.Lys611Ter) n.3382A>T | ClinVar dbSNP |
13 | g.51944189T>C | CA388030093 | ATP7B | c.*894-1635A>G (n.*894-1635A>G) c.*1907A>G (n.*1907A>G) c.2542A>G (p.Lys848Glu) c.3163A>G (p.Lys1055Glu) c.2830A>G (p.Lys944Glu) c.2911A>G (p.Lys971Glu) c.2929A>G (p.Lys977Glu) n.3302A>G n.3526A>G c.2098A>G (p.Lys700Glu) c.1873A>G (p.Lys625Glu) c.2968A>G (p.Lys990Glu) n.383A>G c.1022-1635A>G c.*264A>G (n.*264A>G) n.3907A>G n.2508A>G c.3019A>G (p.Lys1007Glu) c.3067A>G (p.Lys1023Glu) c.3127A>G (p.Lys1043Glu) c.2677A>G (p.Lys893Glu) c.979A>G (p.Lys327Glu) c.877-1635A>G (n.877-1635A>G) c.3028A>G (p.Lys1010Glu) c.3061-1635A>G (n.3061-1635A>G) c.2749A>G (p.Lys917Glu) c.2731-1635A>G (n.2731-1635A>G) c.1831A>G (p.Lys611Glu) n.3382A>G | |
13 | g.51944189T>G | CA388030090 | ATP7B | c.*894-1635A>C (n.*894-1635A>C) c.*1907A>C (n.*1907A>C) c.2542A>C (p.Lys848Gln) c.3163A>C (p.Lys1055Gln) c.2830A>C (p.Lys944Gln) c.2911A>C (p.Lys971Gln) c.2929A>C (p.Lys977Gln) n.3302A>C n.3526A>C c.2098A>C (p.Lys700Gln) c.1873A>C (p.Lys625Gln) c.2968A>C (p.Lys990Gln) n.383A>C c.1022-1635A>C c.*264A>C (n.*264A>C) n.3907A>C n.2508A>C c.3019A>C (p.Lys1007Gln) c.3067A>C (p.Lys1023Gln) c.3127A>C (p.Lys1043Gln) c.2677A>C (p.Lys893Gln) c.979A>C (p.Lys327Gln) c.877-1635A>C (n.877-1635A>C) c.3028A>C (p.Lys1010Gln) c.3061-1635A>C (n.3061-1635A>C) c.2749A>C (p.Lys917Gln) c.2731-1635A>C (n.2731-1635A>C) c.1831A>C (p.Lys611Gln) n.3382A>C | |
13 | g.51944189T= | CA2091563914 | ATP7B | c.*894-1635A= (n.*894-1635A=) c.*1907A= (n.*1907A=) c.2542A= (p.Lys848=) c.3163A= (p.Lys1055=) c.2830A= (p.Lys944=) c.2911A= (p.Lys971=) c.2929A= (p.Lys977=) n.3302A= n.3526A= c.2098A= (p.Lys700=) c.1873A= (p.Lys625=) c.2968A= (p.Lys990=) n.383A= c.1022-1635A= c.*264A= (n.*264A=) n.3907A= n.2508A= c.3019A= (p.Lys1007=) c.3067A= (p.Lys1023=) c.3127A= (p.Lys1043=) c.2677A= (p.Lys893=) c.979A= (p.Lys327=) c.877-1635A= (n.877-1635A=) c.3028A= (p.Lys1010=) c.3061-1635A= (n.3061-1635A=) c.2749A= (p.Lys917=) c.2731-1635A= (n.2731-1635A=) c.1831A= (p.Lys611=) n.3382A= | |
13 | g.51944190C>A | CA388030095 | ATP7B | c.*894-1636G>T (n.*894-1636G>T) c.*1906G>T (n.*1906G>T) c.2541G>T (p.Arg847Ser) c.3162G>T (p.Arg1054Ser) c.2829G>T (p.Arg943Ser) c.2910G>T (p.Arg970Ser) c.2928G>T (p.Arg976Ser) n.3301G>T n.3525G>T c.2097G>T (p.Arg699Ser) c.1872G>T (p.Arg624Ser) c.2967G>T (p.Arg989Ser) n.382G>T c.1022-1636G>T c.*263G>T (n.*263G>T) n.3906G>T n.2507G>T c.3018G>T (p.Arg1006Ser) c.3066G>T (p.Arg1022Ser) c.3126G>T (p.Arg1042Ser) c.2676G>T (p.Arg892Ser) c.978G>T (p.Arg326Ser) c.877-1636G>T (n.877-1636G>T) c.3027G>T (p.Arg1009Ser) c.3061-1636G>T (n.3061-1636G>T) c.2748G>T (p.Arg916Ser) c.2731-1636G>T (n.2731-1636G>T) c.1830G>T (p.Arg610Ser) n.3381G>T | |
13 | g.51944190C>G | CA388030096 | ATP7B | c.*894-1636G>C (n.*894-1636G>C) c.*1906G>C (n.*1906G>C) c.2541G>C (p.Arg847Ser) c.3162G>C (p.Arg1054Ser) c.2829G>C (p.Arg943Ser) c.2910G>C (p.Arg970Ser) c.2928G>C (p.Arg976Ser) n.3301G>C n.3525G>C c.2097G>C (p.Arg699Ser) c.1872G>C (p.Arg624Ser) c.2967G>C (p.Arg989Ser) n.382G>C c.1022-1636G>C c.*263G>C (n.*263G>C) n.3906G>C n.2507G>C c.3018G>C (p.Arg1006Ser) c.3066G>C (p.Arg1022Ser) c.3126G>C (p.Arg1042Ser) c.2676G>C (p.Arg892Ser) c.978G>C (p.Arg326Ser) c.877-1636G>C (n.877-1636G>C) c.3027G>C (p.Arg1009Ser) c.3061-1636G>C (n.3061-1636G>C) c.2748G>C (p.Arg916Ser) c.2731-1636G>C (n.2731-1636G>C) c.1830G>C (p.Arg610Ser) n.3381G>C | |
13 | g.51944190C>T | CA483894699 | ATP7B | c.*894-1636G>A (n.*894-1636G>A) c.*1906G>A (n.*1906G>A) c.2541G>A (p.Arg847=) c.3162G>A (p.Arg1054=) c.2829G>A (p.Arg943=) c.2910G>A (p.Arg970=) c.2928G>A (p.Arg976=) n.3301G>A n.3525G>A c.2097G>A (p.Arg699=) c.1872G>A (p.Arg624=) c.2967G>A (p.Arg989=) n.382G>A c.1022-1636G>A c.*263G>A (n.*263G>A) n.3906G>A n.2507G>A c.3018G>A (p.Arg1006=) c.3066G>A (p.Arg1022=) c.3126G>A (p.Arg1042=) c.2676G>A (p.Arg892=) c.978G>A (p.Arg326=) c.877-1636G>A (n.877-1636G>A) c.3027G>A (p.Arg1009=) c.3061-1636G>A (n.3061-1636G>A) c.2748G>A (p.Arg916=) c.2731-1636G>A (n.2731-1636G>A) c.1830G>A (p.Arg610=) n.3381G>A | ClinVar |
13 | g.51944191C>A | CA388030098 | ATP7B | c.*894-1637G>T (n.*894-1637G>T) c.*1905G>T (n.*1905G>T) c.2540G>T (p.Arg847Met) c.3161G>T (p.Arg1054Met) c.2828G>T (p.Arg943Met) c.2909G>T (p.Arg970Met) c.2927G>T (p.Arg976Met) n.3300G>T n.3524G>T c.2096G>T (p.Arg699Met) c.1871G>T (p.Arg624Met) c.2966G>T (p.Arg989Met) n.381G>T c.1022-1637G>T c.*262G>T (n.*262G>T) n.3905G>T n.2506G>T c.3017G>T (p.Arg1006Met) c.3065G>T (p.Arg1022Met) c.3125G>T (p.Arg1042Met) c.2675G>T (p.Arg892Met) c.977G>T (p.Arg326Met) c.877-1637G>T (n.877-1637G>T) c.3026G>T (p.Arg1009Met) c.3061-1637G>T (n.3061-1637G>T) c.2747G>T (p.Arg916Met) c.2731-1637G>T (n.2731-1637G>T) c.1829G>T (p.Arg610Met) n.3380G>T | |
13 | g.51944191C= | CA2091563918 | ATP7B | c.*894-1637G= (n.*894-1637G=) c.*1905G= (n.*1905G=) c.2540G= (p.Arg847=) c.3161G= (p.Arg1054=) c.2828G= (p.Arg943=) c.2909G= (p.Arg970=) c.2927G= (p.Arg976=) n.3300G= n.3524G= c.2096G= (p.Arg699=) c.1871G= (p.Arg624=) c.2966G= (p.Arg989=) n.381G= c.1022-1637G= c.*262G= (n.*262G=) n.3905G= n.2506G= c.3017G= (p.Arg1006=) c.3065G= (p.Arg1022=) c.3125G= (p.Arg1042=) c.2675G= (p.Arg892=) c.977G= (p.Arg326=) c.877-1637G= (n.877-1637G=) c.3026G= (p.Arg1009=) c.3061-1637G= (n.3061-1637G=) c.2747G= (p.Arg916=) c.2731-1637G= (n.2731-1637G=) c.1829G= (p.Arg610=) n.3380G= | |
13 | g.51944191C>G | CA388030099 | ATP7B | c.*894-1637G>C (n.*894-1637G>C) c.*1905G>C (n.*1905G>C) c.2540G>C (p.Arg847Thr) c.3161G>C (p.Arg1054Thr) c.2828G>C (p.Arg943Thr) c.2909G>C (p.Arg970Thr) c.2927G>C (p.Arg976Thr) n.3300G>C n.3524G>C c.2096G>C (p.Arg699Thr) c.1871G>C (p.Arg624Thr) c.2966G>C (p.Arg989Thr) n.381G>C c.1022-1637G>C c.*262G>C (n.*262G>C) n.3905G>C n.2506G>C c.3017G>C (p.Arg1006Thr) c.3065G>C (p.Arg1022Thr) c.3125G>C (p.Arg1042Thr) c.2675G>C (p.Arg892Thr) c.977G>C (p.Arg326Thr) c.877-1637G>C (n.877-1637G>C) c.3026G>C (p.Arg1009Thr) c.3061-1637G>C (n.3061-1637G>C) c.2747G>C (p.Arg916Thr) c.2731-1637G>C (n.2731-1637G>C) c.1829G>C (p.Arg610Thr) n.3380G>C | |
13 | g.51944191C>T | CA250080167 | ATP7B | c.*894-1637G>A (n.*894-1637G>A) c.*1905G>A (n.*1905G>A) c.2540G>A (p.Arg847Lys) c.3161G>A (p.Arg1054Lys) c.2828G>A (p.Arg943Lys) c.2909G>A (p.Arg970Lys) c.2927G>A (p.Arg976Lys) n.3300G>A n.3524G>A c.2096G>A (p.Arg699Lys) c.1871G>A (p.Arg624Lys) c.2966G>A (p.Arg989Lys) n.381G>A c.1022-1637G>A c.*262G>A (n.*262G>A) n.3905G>A n.2506G>A c.3017G>A (p.Arg1006Lys) c.3065G>A (p.Arg1022Lys) c.3125G>A (p.Arg1042Lys) c.2675G>A (p.Arg892Lys) c.977G>A (p.Arg326Lys) c.877-1637G>A (n.877-1637G>A) c.3026G>A (p.Arg1009Lys) c.3061-1637G>A (n.3061-1637G>A) c.2747G>A (p.Arg916Lys) c.2731-1637G>A (n.2731-1637G>A) c.1829G>A (p.Arg610Lys) n.3380G>A | dbSNP gnomAD v4 |
13 | g.51944192T>A | CA388030102 | ATP7B | c.*894-1638A>T (n.*894-1638A>T) c.*1904A>T (n.*1904A>T) c.2539A>T (p.Arg847Trp) c.3160A>T (p.Arg1054Trp) c.2827A>T (p.Arg943Trp) c.2908A>T (p.Arg970Trp) c.2926A>T (p.Arg976Trp) n.3299A>T n.3523A>T c.2095A>T (p.Arg699Trp) c.1870A>T (p.Arg624Trp) c.2965A>T (p.Arg989Trp) n.380A>T c.1022-1638A>T c.*261A>T (n.*261A>T) n.3904A>T n.2505A>T c.3016A>T (p.Arg1006Trp) n.506A>T c.3064A>T (p.Arg1022Trp) c.3124A>T (p.Arg1042Trp) c.2674A>T (p.Arg892Trp) c.976A>T (p.Arg326Trp) c.877-1638A>T (n.877-1638A>T) c.3025A>T (p.Arg1009Trp) c.3061-1638A>T (n.3061-1638A>T) c.2746A>T (p.Arg916Trp) c.2731-1638A>T (n.2731-1638A>T) c.1828A>T (p.Arg610Trp) n.3379A>T | |
13 | g.51944192T>C | CA6988792 | ATP7B | c.*894-1638A>G (n.*894-1638A>G) c.*1904A>G (n.*1904A>G) c.2539A>G (p.Arg847Gly) c.3160A>G (p.Arg1054Gly) c.2827A>G (p.Arg943Gly) c.2908A>G (p.Arg970Gly) c.2926A>G (p.Arg976Gly) n.3299A>G n.3523A>G c.2095A>G (p.Arg699Gly) c.1870A>G (p.Arg624Gly) c.2965A>G (p.Arg989Gly) n.380A>G c.1022-1638A>G c.*261A>G (n.*261A>G) n.3904A>G n.2505A>G c.3016A>G (p.Arg1006Gly) n.506A>G c.3064A>G (p.Arg1022Gly) c.3124A>G (p.Arg1042Gly) c.2674A>G (p.Arg892Gly) c.976A>G (p.Arg326Gly) c.877-1638A>G (n.877-1638A>G) c.3025A>G (p.Arg1009Gly) c.3061-1638A>G (n.3061-1638A>G) c.2746A>G (p.Arg916Gly) c.2731-1638A>G (n.2731-1638A>G) c.1828A>G (p.Arg610Gly) n.3379A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944192T>G | CA6988791 | ATP7B | c.*894-1638A>C (n.*894-1638A>C) c.*1904A>C (n.*1904A>C) c.2539A>C (p.Arg847=) c.3160A>C (p.Arg1054=) c.2827A>C (p.Arg943=) c.2908A>C (p.Arg970=) c.2926A>C (p.Arg976=) n.3299A>C n.3523A>C c.2095A>C (p.Arg699=) c.1870A>C (p.Arg624=) c.2965A>C (p.Arg989=) n.380A>C c.1022-1638A>C c.*261A>C (n.*261A>C) n.3904A>C n.2505A>C c.3016A>C (p.Arg1006=) n.506A>C c.3064A>C (p.Arg1022=) c.3124A>C (p.Arg1042=) c.2674A>C (p.Arg892=) c.976A>C (p.Arg326=) c.877-1638A>C (n.877-1638A>C) c.3025A>C (p.Arg1009=) c.3061-1638A>C (n.3061-1638A>C) c.2746A>C (p.Arg916=) c.2731-1638A>C (n.2731-1638A>C) c.1828A>C (p.Arg610=) n.3379A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944192T= | CA2091563924 | ATP7B | c.*894-1638A= (n.*894-1638A=) c.*1904A= (n.*1904A=) c.2539A= (p.Arg847=) c.3160A= (p.Arg1054=) c.2827A= (p.Arg943=) c.2908A= (p.Arg970=) c.2926A= (p.Arg976=) n.3299A= n.3523A= c.2095A= (p.Arg699=) c.1870A= (p.Arg624=) c.2965A= (p.Arg989=) n.380A= c.1022-1638A= c.*261A= (n.*261A=) n.3904A= n.2505A= c.3016A= (p.Arg1006=) n.506A= c.3064A= (p.Arg1022=) c.3124A= (p.Arg1042=) c.2674A= (p.Arg892=) c.976A= (p.Arg326=) c.877-1638A= (n.877-1638A=) c.3025A= (p.Arg1009=) c.3061-1638A= (n.3061-1638A=) c.2746A= (p.Arg916=) c.2731-1638A= (n.2731-1638A=) c.1828A= (p.Arg610=) n.3379A= | |
13 | g.51944193G>A | CA483894700 | ATP7B | c.*894-1639C>T (n.*894-1639C>T) c.*1903C>T (n.*1903C>T) c.2538C>T (p.Leu846=) c.3159C>T (p.Leu1053=) c.2826C>T (p.Leu942=) c.2907C>T (p.Leu969=) c.2925C>T (p.Leu975=) n.3298C>T n.3522C>T c.2094C>T (p.Leu698=) c.1869C>T (p.Leu623=) c.2964C>T (p.Leu988=) n.379C>T c.1022-1639C>T c.*260C>T (n.*260C>T) n.3903C>T n.2504C>T c.3015C>T (p.Leu1005=) n.505C>T c.3063C>T (p.Leu1021=) c.3123C>T (p.Leu1041=) c.2673C>T (p.Leu891=) c.975C>T (p.Leu325=) c.877-1639C>T (n.877-1639C>T) c.3024C>T (p.Leu1008=) c.3061-1639C>T (n.3061-1639C>T) c.2745C>T (p.Leu915=) c.2731-1639C>T (n.2731-1639C>T) c.1827C>T (p.Leu609=) n.3378C>T | |
13 | g.51944193G>C | CA483894701 | ATP7B | c.*894-1639C>G (n.*894-1639C>G) c.*1903C>G (n.*1903C>G) c.2538C>G (p.Leu846=) c.3159C>G (p.Leu1053=) c.2826C>G (p.Leu942=) c.2907C>G (p.Leu969=) c.2925C>G (p.Leu975=) n.3298C>G n.3522C>G c.2094C>G (p.Leu698=) c.1869C>G (p.Leu623=) c.2964C>G (p.Leu988=) n.379C>G c.1022-1639C>G c.*260C>G (n.*260C>G) n.3903C>G n.2504C>G c.3015C>G (p.Leu1005=) n.505C>G c.3063C>G (p.Leu1021=) c.3123C>G (p.Leu1041=) c.2673C>G (p.Leu891=) c.975C>G (p.Leu325=) c.877-1639C>G (n.877-1639C>G) c.3024C>G (p.Leu1008=) c.3061-1639C>G (n.3061-1639C>G) c.2745C>G (p.Leu915=) c.2731-1639C>G (n.2731-1639C>G) c.1827C>G (p.Leu609=) n.3378C>G | gnomAD v4 |
13 | g.51944193G>T | CA483894702 | ATP7B | c.*894-1639C>A (n.*894-1639C>A) c.*1903C>A (n.*1903C>A) c.2538C>A (p.Leu846=) c.3159C>A (p.Leu1053=) c.2826C>A (p.Leu942=) c.2907C>A (p.Leu969=) c.2925C>A (p.Leu975=) n.3298C>A n.3522C>A c.2094C>A (p.Leu698=) c.1869C>A (p.Leu623=) c.2964C>A (p.Leu988=) n.379C>A c.1022-1639C>A c.*260C>A (n.*260C>A) n.3903C>A n.2504C>A c.3015C>A (p.Leu1005=) n.505C>A c.3063C>A (p.Leu1021=) c.3123C>A (p.Leu1041=) c.2673C>A (p.Leu891=) c.975C>A (p.Leu325=) c.877-1639C>A (n.877-1639C>A) c.3024C>A (p.Leu1008=) c.3061-1639C>A (n.3061-1639C>A) c.2745C>A (p.Leu915=) c.2731-1639C>A (n.2731-1639C>A) c.1827C>A (p.Leu609=) n.3378C>A | |
13 | g.51944194A= | CA2091563932 | ATP7B | c.*894-1640T= (n.*894-1640T=) c.*1902T= (n.*1902T=) c.2537T= (p.Leu846=) c.3158T= (p.Leu1053=) c.2825T= (p.Leu942=) c.2906T= (p.Leu969=) c.2924T= (p.Leu975=) n.3297T= n.3521T= c.2093T= (p.Leu698=) c.1868T= (p.Leu623=) c.2963T= (p.Leu988=) n.378T= c.1022-1640T= c.*259T= (n.*259T=) n.3902T= n.2503T= c.3014T= (p.Leu1005=) n.504T= c.3062T= (p.Leu1021=) c.3122T= (p.Leu1041=) c.2672T= (p.Leu891=) c.974T= (p.Leu325=) c.877-1640T= (n.877-1640T=) c.3023T= (p.Leu1008=) c.3061-1640T= (n.3061-1640T=) c.2744T= (p.Leu915=) c.2731-1640T= (n.2731-1640T=) c.1826T= (p.Leu609=) n.3377T= | |
13 | g.51944194A>C | CA388030103 | ATP7B | c.*894-1640T>G (n.*894-1640T>G) c.*1902T>G (n.*1902T>G) c.2537T>G (p.Leu846Arg) c.3158T>G (p.Leu1053Arg) c.2825T>G (p.Leu942Arg) c.2906T>G (p.Leu969Arg) c.2924T>G (p.Leu975Arg) n.3297T>G n.3521T>G c.2093T>G (p.Leu698Arg) c.1868T>G (p.Leu623Arg) c.2963T>G (p.Leu988Arg) n.378T>G c.1022-1640T>G c.*259T>G (n.*259T>G) n.3902T>G n.2503T>G c.3014T>G (p.Leu1005Arg) n.504T>G c.3062T>G (p.Leu1021Arg) c.3122T>G (p.Leu1041Arg) c.2672T>G (p.Leu891Arg) c.974T>G (p.Leu325Arg) c.877-1640T>G (n.877-1640T>G) c.3023T>G (p.Leu1008Arg) c.3061-1640T>G (n.3061-1640T>G) c.2744T>G (p.Leu915Arg) c.2731-1640T>G (n.2731-1640T>G) c.1826T>G (p.Leu609Arg) n.3377T>G | |
13 | g.51944194A>G | CA388030104 | ATP7B | c.*894-1640T>C (n.*894-1640T>C) c.*1902T>C (n.*1902T>C) c.2537T>C (p.Leu846Pro) c.3158T>C (p.Leu1053Pro) c.2825T>C (p.Leu942Pro) c.2906T>C (p.Leu969Pro) c.2924T>C (p.Leu975Pro) n.3297T>C n.3521T>C c.2093T>C (p.Leu698Pro) c.1868T>C (p.Leu623Pro) c.2963T>C (p.Leu988Pro) n.378T>C c.1022-1640T>C c.*259T>C (n.*259T>C) n.3902T>C n.2503T>C c.3014T>C (p.Leu1005Pro) n.504T>C c.3062T>C (p.Leu1021Pro) c.3122T>C (p.Leu1041Pro) c.2672T>C (p.Leu891Pro) c.974T>C (p.Leu325Pro) c.877-1640T>C (n.877-1640T>C) c.3023T>C (p.Leu1008Pro) c.3061-1640T>C (n.3061-1640T>C) c.2744T>C (p.Leu915Pro) c.2731-1640T>C (n.2731-1640T>C) c.1826T>C (p.Leu609Pro) n.3377T>C | |
13 | g.51944194A>T | CA388030106 | ATP7B | c.*894-1640T>A (n.*894-1640T>A) c.*1902T>A (n.*1902T>A) c.2537T>A (p.Leu846His) c.3158T>A (p.Leu1053His) c.2825T>A (p.Leu942His) c.2906T>A (p.Leu969His) c.2924T>A (p.Leu975His) n.3297T>A n.3521T>A c.2093T>A (p.Leu698His) c.1868T>A (p.Leu623His) c.2963T>A (p.Leu988His) n.378T>A c.1022-1640T>A c.*259T>A (n.*259T>A) n.3902T>A n.2503T>A c.3014T>A (p.Leu1005His) n.504T>A c.3062T>A (p.Leu1021His) c.3122T>A (p.Leu1041His) c.2672T>A (p.Leu891His) c.974T>A (p.Leu325His) c.877-1640T>A (n.877-1640T>A) c.3023T>A (p.Leu1008His) c.3061-1640T>A (n.3061-1640T>A) c.2744T>A (p.Leu915His) c.2731-1640T>A (n.2731-1640T>A) c.1826T>A (p.Leu609His) n.3377T>A | |
13 | g.51944194dup | CA912974797 | ATP7B | c.*894-1640dup (n.*894-1640dup) c.*1902dup (n.*1902dup) c.2537dup (p.Arg847GlnfsTer15) c.3158dup (p.Arg1054GlnfsTer15) c.2825dup (p.Arg943GlnfsTer15) c.2906dup (p.Arg970GlnfsTer15) c.2924dup (p.Arg976GlnfsTer15) n.3297dup n.3521dup c.2093dup (p.Arg699GlnfsTer15) c.1868dup (p.Arg624GlnfsTer15) c.2963dup (p.Arg989GlnfsTer15) n.378dup c.1022-1640dup c.*259dup (n.*259dup) n.3902dup n.2503dup c.3014dup (p.Arg1006GlnfsTer15) n.504dup c.3062dup (p.Arg1022GlnfsTer15) c.3122dup (p.Arg1042GlnfsTer15) c.2672dup (p.Arg892GlnfsTer15) c.974dup (p.Arg326GlnfsTer15) c.877-1640dup (n.877-1640dup) c.3023dup (p.Arg1009GlnfsTer15) c.3061-1640dup (n.3061-1640dup) c.2744dup (p.Arg916GlnfsTer15) c.2731-1640dup (n.2731-1640dup) c.1826dup (p.Arg610GlnfsTer15) n.3377dup | |
13 | g.51944195G>A | CA388030108 | ATP7B | c.*894-1641C>T (n.*894-1641C>T) c.*1901C>T (n.*1901C>T) c.2536C>T (p.Leu846Phe) c.3157C>T (p.Leu1053Phe) c.2824C>T (p.Leu942Phe) c.2905C>T (p.Leu969Phe) c.2923C>T (p.Leu975Phe) n.3296C>T n.3520C>T c.2092C>T (p.Leu698Phe) c.1867C>T (p.Leu623Phe) c.2962C>T (p.Leu988Phe) n.377C>T c.1022-1641C>T c.*258C>T (n.*258C>T) n.3901C>T n.2502C>T c.3013C>T (p.Leu1005Phe) n.503C>T c.3061C>T (p.Leu1021Phe) c.3121C>T (p.Leu1041Phe) c.2671C>T (p.Leu891Phe) c.973C>T (p.Leu325Phe) c.877-1641C>T (n.877-1641C>T) c.3022C>T (p.Leu1008Phe) c.3061-1641C>T (n.3061-1641C>T) c.2743C>T (p.Leu915Phe) c.2731-1641C>T (n.2731-1641C>T) c.1825C>T (p.Leu609Phe) n.3376C>T | dbSNP gnomAD v4 |
13 | g.51944195G>C | CA388030109 | ATP7B | c.*894-1641C>G (n.*894-1641C>G) c.*1901C>G (n.*1901C>G) c.2536C>G (p.Leu846Val) c.3157C>G (p.Leu1053Val) c.2824C>G (p.Leu942Val) c.2905C>G (p.Leu969Val) c.2923C>G (p.Leu975Val) n.3296C>G n.3520C>G c.2092C>G (p.Leu698Val) c.1867C>G (p.Leu623Val) c.2962C>G (p.Leu988Val) n.377C>G c.1022-1641C>G c.*258C>G (n.*258C>G) n.3901C>G n.2502C>G c.3013C>G (p.Leu1005Val) n.503C>G c.3061C>G (p.Leu1021Val) c.3121C>G (p.Leu1041Val) c.2671C>G (p.Leu891Val) c.973C>G (p.Leu325Val) c.877-1641C>G (n.877-1641C>G) c.3022C>G (p.Leu1008Val) c.3061-1641C>G (n.3061-1641C>G) c.2743C>G (p.Leu915Val) c.2731-1641C>G (n.2731-1641C>G) c.1825C>G (p.Leu609Val) n.3376C>G | |
13 | g.51944195G= | CA2091563937 | ATP7B | c.*894-1641C= (n.*894-1641C=) c.*1901C= (n.*1901C=) c.2536C= (p.Leu846=) c.3157C= (p.Leu1053=) c.2824C= (p.Leu942=) c.2905C= (p.Leu969=) c.2923C= (p.Leu975=) n.3296C= n.3520C= c.2092C= (p.Leu698=) c.1867C= (p.Leu623=) c.2962C= (p.Leu988=) n.377C= c.1022-1641C= c.*258C= (n.*258C=) n.3901C= n.2502C= c.3013C= (p.Leu1005=) n.503C= c.3061C= (p.Leu1021=) c.3121C= (p.Leu1041=) c.2671C= (p.Leu891=) c.973C= (p.Leu325=) c.877-1641C= (n.877-1641C=) c.3022C= (p.Leu1008=) c.3061-1641C= (n.3061-1641C=) c.2743C= (p.Leu915=) c.2731-1641C= (n.2731-1641C=) c.1825C= (p.Leu609=) n.3376C= | |
13 | g.51944195G>T | CA388030110 | ATP7B | c.*894-1641C>A (n.*894-1641C>A) c.*1901C>A (n.*1901C>A) c.2536C>A (p.Leu846Ile) c.3157C>A (p.Leu1053Ile) c.2824C>A (p.Leu942Ile) c.2905C>A (p.Leu969Ile) c.2923C>A (p.Leu975Ile) n.3296C>A n.3520C>A c.2092C>A (p.Leu698Ile) c.1867C>A (p.Leu623Ile) c.2962C>A (p.Leu988Ile) n.377C>A c.1022-1641C>A c.*258C>A (n.*258C>A) n.3901C>A n.2502C>A c.3013C>A (p.Leu1005Ile) n.503C>A c.3061C>A (p.Leu1021Ile) c.3121C>A (p.Leu1041Ile) c.2671C>A (p.Leu891Ile) c.973C>A (p.Leu325Ile) c.877-1641C>A (n.877-1641C>A) c.3022C>A (p.Leu1008Ile) c.3061-1641C>A (n.3061-1641C>A) c.2743C>A (p.Leu915Ile) c.2731-1641C>A (n.2731-1641C>A) c.1825C>A (p.Leu609Ile) n.3376C>A | |
13 | g.51944198dup | CA658823705 | ATP7B | c.*894-1641dup (n.*894-1641dup) c.*1901dup (n.*1901dup) c.2536dup (p.Leu846ProfsTer16) c.3157dup (p.Leu1053ProfsTer16) c.2824dup (p.Leu942ProfsTer16) c.2905dup (p.Leu969ProfsTer16) c.2923dup (p.Leu975ProfsTer16) n.3296dup n.3520dup c.2092dup (p.Leu698ProfsTer16) c.1867dup (p.Leu623ProfsTer16) c.2962dup (p.Leu988ProfsTer16) n.377dup c.1022-1641dup c.*258dup (n.*258dup) n.3901dup n.2502dup c.3013dup (p.Leu1005ProfsTer16) n.503dup c.3061dup (p.Leu1021ProfsTer16) c.3121dup (p.Leu1041ProfsTer16) c.2671dup (p.Leu891ProfsTer16) c.973dup (p.Leu325ProfsTer16) c.877-1641dup (n.877-1641dup) c.3022dup (p.Leu1008ProfsTer16) c.3061-1641dup (n.3061-1641dup) c.2743dup (p.Leu915ProfsTer16) c.2731-1641dup (n.2731-1641dup) c.1825dup (p.Leu609ProfsTer16) n.3376dup | ClinVar dbSNP |
13 | g.51944196G>A | CA483894703 | ATP7B | c.*894-1642C>T (n.*894-1642C>T) c.*1900C>T (n.*1900C>T) c.2535C>T (p.Pro845=) c.3156C>T (p.Pro1052=) c.2823C>T (p.Pro941=) c.2904C>T (p.Pro968=) c.2922C>T (p.Pro974=) n.3295C>T n.3519C>T c.2091C>T (p.Pro697=) c.1866C>T (p.Pro622=) c.2961C>T (p.Pro987=) n.376C>T c.1022-1642C>T c.*257C>T (n.*257C>T) n.3900C>T n.2501C>T c.3012C>T (p.Pro1004=) n.502C>T c.3060C>T (p.Pro1020=) c.3120C>T (p.Pro1040=) c.2670C>T (p.Pro890=) c.972C>T (p.Pro324=) c.877-1642C>T (n.877-1642C>T) c.3021C>T (p.Pro1007=) c.3061-1642C>T (n.3061-1642C>T) c.2742C>T (p.Pro914=) c.2731-1642C>T (n.2731-1642C>T) c.1824C>T (p.Pro608=) n.3375C>T | gnomAD v4 |
13 | g.51944196G>C | CA483894704 | ATP7B | c.*894-1642C>G (n.*894-1642C>G) c.*1900C>G (n.*1900C>G) c.2535C>G (p.Pro845=) c.3156C>G (p.Pro1052=) c.2823C>G (p.Pro941=) c.2904C>G (p.Pro968=) c.2922C>G (p.Pro974=) n.3295C>G n.3519C>G c.2091C>G (p.Pro697=) c.1866C>G (p.Pro622=) c.2961C>G (p.Pro987=) n.376C>G c.1022-1642C>G c.*257C>G (n.*257C>G) n.3900C>G n.2501C>G c.3012C>G (p.Pro1004=) n.502C>G c.3060C>G (p.Pro1020=) c.3120C>G (p.Pro1040=) c.2670C>G (p.Pro890=) c.972C>G (p.Pro324=) c.877-1642C>G (n.877-1642C>G) c.3021C>G (p.Pro1007=) c.3061-1642C>G (n.3061-1642C>G) c.2742C>G (p.Pro914=) c.2731-1642C>G (n.2731-1642C>G) c.1824C>G (p.Pro608=) n.3375C>G | |
13 | g.51944196G>T | CA483894705 | ATP7B | c.*894-1642C>A (n.*894-1642C>A) c.*1900C>A (n.*1900C>A) c.2535C>A (p.Pro845=) c.3156C>A (p.Pro1052=) c.2823C>A (p.Pro941=) c.2904C>A (p.Pro968=) c.2922C>A (p.Pro974=) n.3295C>A n.3519C>A c.2091C>A (p.Pro697=) c.1866C>A (p.Pro622=) c.2961C>A (p.Pro987=) n.376C>A c.1022-1642C>A c.*257C>A (n.*257C>A) n.3900C>A n.2501C>A c.3012C>A (p.Pro1004=) n.502C>A c.3060C>A (p.Pro1020=) c.3120C>A (p.Pro1040=) c.2670C>A (p.Pro890=) c.972C>A (p.Pro324=) c.877-1642C>A (n.877-1642C>A) c.3021C>A (p.Pro1007=) c.3061-1642C>A (n.3061-1642C>A) c.2742C>A (p.Pro914=) c.2731-1642C>A (n.2731-1642C>A) c.1824C>A (p.Pro608=) n.3375C>A | |
13 | g.51944197G>A | CA6988793 | ATP7B | c.*894-1643C>T (n.*894-1643C>T) c.*1899C>T (n.*1899C>T) c.2534C>T (p.Pro845Leu) c.3155C>T (p.Pro1052Leu) c.2822C>T (p.Pro941Leu) c.2903C>T (p.Pro968Leu) c.2921C>T (p.Pro974Leu) n.3294C>T n.3518C>T c.2090C>T (p.Pro697Leu) c.1865C>T (p.Pro622Leu) c.2960C>T (p.Pro987Leu) n.375C>T c.1022-1643C>T c.*256C>T (n.*256C>T) n.3899C>T n.2500C>T c.3011C>T (p.Pro1004Leu) n.501C>T c.3059C>T (p.Pro1020Leu) c.3119C>T (p.Pro1040Leu) c.2669C>T (p.Pro890Leu) c.971C>T (p.Pro324Leu) c.877-1643C>T (n.877-1643C>T) c.3020C>T (p.Pro1007Leu) c.3061-1643C>T (n.3061-1643C>T) c.2741C>T (p.Pro914Leu) c.2731-1643C>T (n.2731-1643C>T) c.1823C>T (p.Pro608Leu) n.3374C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
13 | g.51944197G>C | CA388030115 | ATP7B | c.*894-1643C>G (n.*894-1643C>G) c.*1899C>G (n.*1899C>G) c.2534C>G (p.Pro845Arg) c.3155C>G (p.Pro1052Arg) c.2822C>G (p.Pro941Arg) c.2903C>G (p.Pro968Arg) c.2921C>G (p.Pro974Arg) n.3294C>G n.3518C>G c.2090C>G (p.Pro697Arg) c.1865C>G (p.Pro622Arg) c.2960C>G (p.Pro987Arg) n.375C>G c.1022-1643C>G c.*256C>G (n.*256C>G) n.3899C>G n.2500C>G c.3011C>G (p.Pro1004Arg) n.501C>G c.3059C>G (p.Pro1020Arg) c.3119C>G (p.Pro1040Arg) c.2669C>G (p.Pro890Arg) c.971C>G (p.Pro324Arg) c.877-1643C>G (n.877-1643C>G) c.3020C>G (p.Pro1007Arg) c.3061-1643C>G (n.3061-1643C>G) c.2741C>G (p.Pro914Arg) c.2731-1643C>G (n.2731-1643C>G) c.1823C>G (p.Pro608Arg) n.3374C>G | |
13 | g.51944197G= | CA2091563942 | ATP7B | c.*894-1643C= (n.*894-1643C=) c.*1899C= (n.*1899C=) c.2534C= (p.Pro845=) c.3155C= (p.Pro1052=) c.2822C= (p.Pro941=) c.2903C= (p.Pro968=) c.2921C= (p.Pro974=) n.3294C= n.3518C= c.2090C= (p.Pro697=) c.1865C= (p.Pro622=) c.2960C= (p.Pro987=) n.375C= c.1022-1643C= c.*256C= (n.*256C=) n.3899C= n.2500C= c.3011C= (p.Pro1004=) n.501C= c.3059C= (p.Pro1020=) c.3119C= (p.Pro1040=) c.2669C= (p.Pro890=) c.971C= (p.Pro324=) c.877-1643C= (n.877-1643C=) c.3020C= (p.Pro1007=) c.3061-1643C= (n.3061-1643C=) c.2741C= (p.Pro914=) c.2731-1643C= (n.2731-1643C=) c.1823C= (p.Pro608=) n.3374C= | |
13 | g.51944197G>T | CA388030114 | ATP7B | c.*894-1643C>A (n.*894-1643C>A) c.*1899C>A (n.*1899C>A) c.2534C>A (p.Pro845His) c.3155C>A (p.Pro1052His) c.2822C>A (p.Pro941His) c.2903C>A (p.Pro968His) c.2921C>A (p.Pro974His) n.3294C>A n.3518C>A c.2090C>A (p.Pro697His) c.1865C>A (p.Pro622His) c.2960C>A (p.Pro987His) n.375C>A c.1022-1643C>A c.*256C>A (n.*256C>A) n.3899C>A n.2500C>A c.3011C>A (p.Pro1004His) n.501C>A c.3059C>A (p.Pro1020His) c.3119C>A (p.Pro1040His) c.2669C>A (p.Pro890His) c.971C>A (p.Pro324His) c.877-1643C>A (n.877-1643C>A) c.3020C>A (p.Pro1007His) c.3061-1643C>A (n.3061-1643C>A) c.2741C>A (p.Pro914His) c.2731-1643C>A (n.2731-1643C>A) c.1823C>A (p.Pro608His) n.3374C>A | |
13 | g.51944198G>A | CA388030124 | ATP7B | c.*894-1644C>T (n.*894-1644C>T) c.*1898C>T (n.*1898C>T) c.2533C>T (p.Pro845Ser) c.3154C>T (p.Pro1052Ser) c.2821C>T (p.Pro941Ser) c.2902C>T (p.Pro968Ser) c.2920C>T (p.Pro974Ser) n.3293C>T n.3517C>T c.2089C>T (p.Pro697Ser) c.1864C>T (p.Pro622Ser) c.2959C>T (p.Pro987Ser) n.374C>T c.1022-1644C>T c.*255C>T (n.*255C>T) n.3898C>T n.2499C>T c.3010C>T (p.Pro1004Ser) n.500C>T c.3058C>T (p.Pro1020Ser) c.3118C>T (p.Pro1040Ser) c.2668C>T (p.Pro890Ser) c.970C>T (p.Pro324Ser) c.877-1644C>T (n.877-1644C>T) c.3019C>T (p.Pro1007Ser) c.3061-1644C>T (n.3061-1644C>T) c.2740C>T (p.Pro914Ser) c.2731-1644C>T (n.2731-1644C>T) c.1822C>T (p.Pro608Ser) n.3373C>T | |
13 | g.51944198G>C | CA388030126 | ATP7B | c.*894-1644C>G (n.*894-1644C>G) c.*1898C>G (n.*1898C>G) c.2533C>G (p.Pro845Ala) c.3154C>G (p.Pro1052Ala) c.2821C>G (p.Pro941Ala) c.2902C>G (p.Pro968Ala) c.2920C>G (p.Pro974Ala) n.3293C>G n.3517C>G c.2089C>G (p.Pro697Ala) c.1864C>G (p.Pro622Ala) c.2959C>G (p.Pro987Ala) n.374C>G c.1022-1644C>G c.*255C>G (n.*255C>G) n.3898C>G n.2499C>G c.3010C>G (p.Pro1004Ala) n.500C>G c.3058C>G (p.Pro1020Ala) c.3118C>G (p.Pro1040Ala) c.2668C>G (p.Pro890Ala) c.970C>G (p.Pro324Ala) c.877-1644C>G (n.877-1644C>G) c.3019C>G (p.Pro1007Ala) c.3061-1644C>G (n.3061-1644C>G) c.2740C>G (p.Pro914Ala) c.2731-1644C>G (n.2731-1644C>G) c.1822C>G (p.Pro608Ala) n.3373C>G | |
13 | g.51944198G>T | CA388030128 | ATP7B | c.*894-1644C>A (n.*894-1644C>A) c.*1898C>A (n.*1898C>A) c.2533C>A (p.Pro845Thr) c.3154C>A (p.Pro1052Thr) c.2821C>A (p.Pro941Thr) c.2902C>A (p.Pro968Thr) c.2920C>A (p.Pro974Thr) n.3293C>A n.3517C>A c.2089C>A (p.Pro697Thr) c.1864C>A (p.Pro622Thr) c.2959C>A (p.Pro987Thr) n.374C>A c.1022-1644C>A c.*255C>A (n.*255C>A) n.3898C>A n.2499C>A c.3010C>A (p.Pro1004Thr) n.500C>A c.3058C>A (p.Pro1020Thr) c.3118C>A (p.Pro1040Thr) c.2668C>A (p.Pro890Thr) c.970C>A (p.Pro324Thr) c.877-1644C>A (n.877-1644C>A) c.3019C>A (p.Pro1007Thr) c.3061-1644C>A (n.3061-1644C>A) c.2740C>A (p.Pro914Thr) c.2731-1644C>A (n.2731-1644C>A) c.1822C>A (p.Pro608Thr) n.3373C>A | |
13 | g.51944199C>A | CA483894706 | ATP7B | c.*894-1645G>T (n.*894-1645G>T) c.*1897G>T (n.*1897G>T) c.2532G>T (p.Leu844=) c.3153G>T (p.Leu1051=) c.2820G>T (p.Leu940=) c.2901G>T (p.Leu967=) c.2919G>T (p.Leu973=) n.3292G>T n.3516G>T c.2088G>T (p.Leu696=) c.1863G>T (p.Leu621=) c.2958G>T (p.Leu986=) n.373G>T c.1022-1645G>T c.*254G>T (n.*254G>T) n.3897G>T n.2498G>T c.3009G>T (p.Leu1003=) n.499G>T c.3057G>T (p.Leu1019=) c.3117G>T (p.Leu1039=) c.2667G>T (p.Leu889=) c.969G>T (p.Leu323=) c.877-1645G>T (n.877-1645G>T) c.3018G>T (p.Leu1006=) c.3061-1645G>T (n.3061-1645G>T) c.2739G>T (p.Leu913=) c.2731-1645G>T (n.2731-1645G>T) c.1821G>T (p.Leu607=) n.3372G>T | |
13 | g.51944199C= | CA2091563949 | ATP7B | c.*894-1645G= (n.*894-1645G=) c.*1897G= (n.*1897G=) c.2532G= (p.Leu844=) c.3153G= (p.Leu1051=) c.2820G= (p.Leu940=) c.2901G= (p.Leu967=) c.2919G= (p.Leu973=) n.3292G= n.3516G= c.2088G= (p.Leu696=) c.1863G= (p.Leu621=) c.2958G= (p.Leu986=) n.373G= c.1022-1645G= c.*254G= (n.*254G=) n.3897G= n.2498G= c.3009G= (p.Leu1003=) n.499G= c.3057G= (p.Leu1019=) c.3117G= (p.Leu1039=) c.2667G= (p.Leu889=) c.969G= (p.Leu323=) c.877-1645G= (n.877-1645G=) c.3018G= (p.Leu1006=) c.3061-1645G= (n.3061-1645G=) c.2739G= (p.Leu913=) c.2731-1645G= (n.2731-1645G=) c.1821G= (p.Leu607=) n.3372G= | |
13 | g.51944199C>G | CA483894707 | ATP7B | c.*894-1645G>C (n.*894-1645G>C) c.*1897G>C (n.*1897G>C) c.2532G>C (p.Leu844=) c.3153G>C (p.Leu1051=) c.2820G>C (p.Leu940=) c.2901G>C (p.Leu967=) c.2919G>C (p.Leu973=) n.3292G>C n.3516G>C c.2088G>C (p.Leu696=) c.1863G>C (p.Leu621=) c.2958G>C (p.Leu986=) n.373G>C c.1022-1645G>C c.*254G>C (n.*254G>C) n.3897G>C n.2498G>C c.3009G>C (p.Leu1003=) n.499G>C c.3057G>C (p.Leu1019=) c.3117G>C (p.Leu1039=) c.2667G>C (p.Leu889=) c.969G>C (p.Leu323=) c.877-1645G>C (n.877-1645G>C) c.3018G>C (p.Leu1006=) c.3061-1645G>C (n.3061-1645G>C) c.2739G>C (p.Leu913=) c.2731-1645G>C (n.2731-1645G>C) c.1821G>C (p.Leu607=) n.3372G>C | |
13 | g.51944199C>T | CA483894708 | ATP7B | c.*894-1645G>A (n.*894-1645G>A) c.*1897G>A (n.*1897G>A) c.2532G>A (p.Leu844=) c.3153G>A (p.Leu1051=) c.2820G>A (p.Leu940=) c.2901G>A (p.Leu967=) c.2919G>A (p.Leu973=) n.3292G>A n.3516G>A c.2088G>A (p.Leu696=) c.1863G>A (p.Leu621=) c.2958G>A (p.Leu986=) n.373G>A c.1022-1645G>A c.*254G>A (n.*254G>A) n.3897G>A n.2498G>A c.3009G>A (p.Leu1003=) n.499G>A c.3057G>A (p.Leu1019=) c.3117G>A (p.Leu1039=) c.2667G>A (p.Leu889=) c.969G>A (p.Leu323=) c.877-1645G>A (n.877-1645G>A) c.3018G>A (p.Leu1006=) c.3061-1645G>A (n.3061-1645G>A) c.2739G>A (p.Leu913=) c.2731-1645G>A (n.2731-1645G>A) c.1821G>A (p.Leu607=) n.3372G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944200A= | CA2091563951 | ATP7B | c.*894-1646T= (n.*894-1646T=) c.*1896T= (n.*1896T=) c.2531T= (p.Leu844=) c.3152T= (p.Leu1051=) c.2819T= (p.Leu940=) c.2900T= (p.Leu967=) c.2918T= (p.Leu973=) n.3291T= n.3515T= c.2087T= (p.Leu696=) c.1862T= (p.Leu621=) c.2957T= (p.Leu986=) n.372T= c.1022-1646T= c.*253T= (n.*253T=) n.3896T= n.2497T= c.3008T= (p.Leu1003=) n.498T= c.3056T= (p.Leu1019=) c.3116T= (p.Leu1039=) c.2666T= (p.Leu889=) c.968T= (p.Leu323=) c.877-1646T= (n.877-1646T=) c.3017T= (p.Leu1006=) c.3061-1646T= (n.3061-1646T=) c.2738T= (p.Leu913=) c.2731-1646T= (n.2731-1646T=) c.1820T= (p.Leu607=) n.3371T= | |
13 | g.51944200A>C | CA250080182 | ATP7B | c.*894-1646T>G (n.*894-1646T>G) c.*1896T>G (n.*1896T>G) c.2531T>G (p.Leu844Arg) c.3152T>G (p.Leu1051Arg) c.2819T>G (p.Leu940Arg) c.2900T>G (p.Leu967Arg) c.2918T>G (p.Leu973Arg) n.3291T>G n.3515T>G c.2087T>G (p.Leu696Arg) c.1862T>G (p.Leu621Arg) c.2957T>G (p.Leu986Arg) n.372T>G c.1022-1646T>G c.*253T>G (n.*253T>G) n.3896T>G n.2497T>G c.3008T>G (p.Leu1003Arg) n.498T>G c.3056T>G (p.Leu1019Arg) c.3116T>G (p.Leu1039Arg) c.2666T>G (p.Leu889Arg) c.968T>G (p.Leu323Arg) c.877-1646T>G (n.877-1646T>G) c.3017T>G (p.Leu1006Arg) c.3061-1646T>G (n.3061-1646T>G) c.2738T>G (p.Leu913Arg) c.2731-1646T>G (n.2731-1646T>G) c.1820T>G (p.Leu607Arg) n.3371T>G | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51944200A>G | CA388030130 | ATP7B | c.*894-1646T>C (n.*894-1646T>C) c.*1896T>C (n.*1896T>C) c.2531T>C (p.Leu844Pro) c.3152T>C (p.Leu1051Pro) c.2819T>C (p.Leu940Pro) c.2900T>C (p.Leu967Pro) c.2918T>C (p.Leu973Pro) n.3291T>C n.3515T>C c.2087T>C (p.Leu696Pro) c.1862T>C (p.Leu621Pro) c.2957T>C (p.Leu986Pro) n.372T>C c.1022-1646T>C c.*253T>C (n.*253T>C) n.3896T>C n.2497T>C c.3008T>C (p.Leu1003Pro) n.498T>C c.3056T>C (p.Leu1019Pro) c.3116T>C (p.Leu1039Pro) c.2666T>C (p.Leu889Pro) c.968T>C (p.Leu323Pro) c.877-1646T>C (n.877-1646T>C) c.3017T>C (p.Leu1006Pro) c.3061-1646T>C (n.3061-1646T>C) c.2738T>C (p.Leu913Pro) c.2731-1646T>C (n.2731-1646T>C) c.1820T>C (p.Leu607Pro) n.3371T>C | |
13 | g.51944200A>T | CA388030133 | ATP7B | c.*894-1646T>A (n.*894-1646T>A) c.*1896T>A (n.*1896T>A) c.2531T>A (p.Leu844Gln) c.3152T>A (p.Leu1051Gln) c.2819T>A (p.Leu940Gln) c.2900T>A (p.Leu967Gln) c.2918T>A (p.Leu973Gln) n.3291T>A n.3515T>A c.2087T>A (p.Leu696Gln) c.1862T>A (p.Leu621Gln) c.2957T>A (p.Leu986Gln) n.372T>A c.1022-1646T>A c.*253T>A (n.*253T>A) n.3896T>A n.2497T>A c.3008T>A (p.Leu1003Gln) n.498T>A c.3056T>A (p.Leu1019Gln) c.3116T>A (p.Leu1039Gln) c.2666T>A (p.Leu889Gln) c.968T>A (p.Leu323Gln) c.877-1646T>A (n.877-1646T>A) c.3017T>A (p.Leu1006Gln) c.3061-1646T>A (n.3061-1646T>A) c.2738T>A (p.Leu913Gln) c.2731-1646T>A (n.2731-1646T>A) c.1820T>A (p.Leu607Gln) n.3371T>A | |
13 | g.51944201G>A | CA6988794 | ATP7B | c.*894-1647C>T (n.*894-1647C>T) c.*1895C>T (n.*1895C>T) c.2530C>T (p.Leu844=) c.3151C>T (p.Leu1051=) c.2818C>T (p.Leu940=) c.2899C>T (p.Leu967=) c.2917C>T (p.Leu973=) n.3290C>T n.3514C>T c.2086C>T (p.Leu696=) c.1861C>T (p.Leu621=) c.2956C>T (p.Leu986=) n.371C>T c.1022-1647C>T c.*252C>T (n.*252C>T) n.3895C>T n.2496C>T c.3007C>T (p.Leu1003=) n.497C>T c.3055C>T (p.Leu1019=) c.3115C>T (p.Leu1039=) c.2665C>T (p.Leu889=) c.967C>T (p.Leu323=) c.877-1647C>T (n.877-1647C>T) c.3016C>T (p.Leu1006=) c.3061-1647C>T (n.3061-1647C>T) c.2737C>T (p.Leu913=) c.2731-1647C>T (n.2731-1647C>T) c.1819C>T (p.Leu607=) n.3370C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944201G>C | CA388030134 | ATP7B | c.*894-1647C>G (n.*894-1647C>G) c.*1895C>G (n.*1895C>G) c.2530C>G (p.Leu844Val) c.3151C>G (p.Leu1051Val) c.2818C>G (p.Leu940Val) c.2899C>G (p.Leu967Val) c.2917C>G (p.Leu973Val) n.3290C>G n.3514C>G c.2086C>G (p.Leu696Val) c.1861C>G (p.Leu621Val) c.2956C>G (p.Leu986Val) n.371C>G c.1022-1647C>G c.*252C>G (n.*252C>G) n.3895C>G n.2496C>G c.3007C>G (p.Leu1003Val) n.497C>G c.3055C>G (p.Leu1019Val) c.3115C>G (p.Leu1039Val) c.2665C>G (p.Leu889Val) c.967C>G (p.Leu323Val) c.877-1647C>G (n.877-1647C>G) c.3016C>G (p.Leu1006Val) c.3061-1647C>G (n.3061-1647C>G) c.2737C>G (p.Leu913Val) c.2731-1647C>G (n.2731-1647C>G) c.1819C>G (p.Leu607Val) n.3370C>G | |
13 | g.51944201G= | CA2091563955 | ATP7B | c.*894-1647C= (n.*894-1647C=) c.*1895C= (n.*1895C=) c.2530C= (p.Leu844=) c.3151C= (p.Leu1051=) c.2818C= (p.Leu940=) c.2899C= (p.Leu967=) c.2917C= (p.Leu973=) n.3290C= n.3514C= c.2086C= (p.Leu696=) c.1861C= (p.Leu621=) c.2956C= (p.Leu986=) n.371C= c.1022-1647C= c.*252C= (n.*252C=) n.3895C= n.2496C= c.3007C= (p.Leu1003=) n.497C= c.3055C= (p.Leu1019=) c.3115C= (p.Leu1039=) c.2665C= (p.Leu889=) c.967C= (p.Leu323=) c.877-1647C= (n.877-1647C=) c.3016C= (p.Leu1006=) c.3061-1647C= (n.3061-1647C=) c.2737C= (p.Leu913=) c.2731-1647C= (n.2731-1647C=) c.1819C= (p.Leu607=) n.3370C= | |
13 | g.51944201G>T | CA388030136 | ATP7B | c.*894-1647C>A (n.*894-1647C>A) c.*1895C>A (n.*1895C>A) c.2530C>A (p.Leu844Met) c.3151C>A (p.Leu1051Met) c.2818C>A (p.Leu940Met) c.2899C>A (p.Leu967Met) c.2917C>A (p.Leu973Met) n.3290C>A n.3514C>A c.2086C>A (p.Leu696Met) c.1861C>A (p.Leu621Met) c.2956C>A (p.Leu986Met) n.371C>A c.1022-1647C>A c.*252C>A (n.*252C>A) n.3895C>A n.2496C>A c.3007C>A (p.Leu1003Met) n.497C>A c.3055C>A (p.Leu1019Met) c.3115C>A (p.Leu1039Met) c.2665C>A (p.Leu889Met) c.967C>A (p.Leu323Met) c.877-1647C>A (n.877-1647C>A) c.3016C>A (p.Leu1006Met) c.3061-1647C>A (n.3061-1647C>A) c.2737C>A (p.Leu913Met) c.2731-1647C>A (n.2731-1647C>A) c.1819C>A (p.Leu607Met) n.3370C>A | |
13 | g.51944204_51944205del | CA912974798 | ATP7B | c.*894-1648_*894-1647del (n.*894-1648_*894-1647del) c.*1894_*1895del (n.*1894_*1895del) c.2529_2530del (p.Leu844AlafsTer17) c.3150_3151del (p.Leu1051AlafsTer17) c.2817_2818del (p.Leu940AlafsTer17) c.2898_2899del (p.Leu967AlafsTer17) c.2916_2917del (p.Leu973AlafsTer17) n.3289_3290del n.3513_3514del c.2085_2086del (p.Leu696AlafsTer17) c.1860_1861del (p.Leu621AlafsTer17) c.2955_2956del (p.Leu986AlafsTer17) n.370_371del c.1022-1648_1022-1647del c.*251_*252del (n.*251_*252del) n.3894_3895del n.2495_2496del c.3006_3007del (p.Leu1003AlafsTer17) n.496_497del c.3054_3055del (p.Leu1019AlafsTer17) c.3114_3115del (p.Leu1039AlafsTer17) c.2664_2665del (p.Leu889AlafsTer17) c.966_967del (p.Leu323AlafsTer17) c.877-1648_877-1647del (n.877-1648_877-1647del) c.3015_3016del (p.Leu1006AlafsTer17) c.3061-1648_3061-1647del (n.3061-1648_3061-1647del) c.2736_2737del (p.Leu913AlafsTer17) c.2731-1648_2731-1647del (n.2731-1648_2731-1647del) c.1818_1819del (p.Leu607AlafsTer17) n.3369_3370del | |
13 | g.51944202T>A | CA483894709 | ATP7B | c.*894-1648A>T (n.*894-1648A>T) c.*1894A>T (n.*1894A>T) c.2529A>T (p.Thr843=) c.3150A>T (p.Thr1050=) c.2817A>T (p.Thr939=) c.2898A>T (p.Thr966=) c.2916A>T (p.Thr972=) n.3289A>T n.3513A>T c.2085A>T (p.Thr695=) c.1860A>T (p.Thr620=) c.2955A>T (p.Thr985=) n.370A>T c.1022-1648A>T c.*251A>T (n.*251A>T) n.3894A>T n.2495A>T c.3006A>T (p.Thr1002=) n.496A>T c.3054A>T (p.Thr1018=) c.3114A>T (p.Thr1038=) c.2664A>T (p.Thr888=) c.966A>T (p.Thr322=) c.877-1648A>T (n.877-1648A>T) c.3015A>T (p.Thr1005=) c.3061-1648A>T (n.3061-1648A>T) c.2736A>T (p.Thr912=) c.2731-1648A>T (n.2731-1648A>T) c.1818A>T (p.Thr606=) n.3369A>T | |
13 | g.51944202T>C | CA6988795 | ATP7B | c.*894-1648A>G (n.*894-1648A>G) c.*1894A>G (n.*1894A>G) c.2529A>G (p.Thr843=) c.3150A>G (p.Thr1050=) c.2817A>G (p.Thr939=) c.2898A>G (p.Thr966=) c.2916A>G (p.Thr972=) n.3289A>G n.3513A>G c.2085A>G (p.Thr695=) c.1860A>G (p.Thr620=) c.2955A>G (p.Thr985=) n.370A>G c.1022-1648A>G c.*251A>G (n.*251A>G) n.3894A>G n.2495A>G c.3006A>G (p.Thr1002=) n.496A>G c.3054A>G (p.Thr1018=) c.3114A>G (p.Thr1038=) c.2664A>G (p.Thr888=) c.966A>G (p.Thr322=) c.877-1648A>G (n.877-1648A>G) c.3015A>G (p.Thr1005=) c.3061-1648A>G (n.3061-1648A>G) c.2736A>G (p.Thr912=) c.2731-1648A>G (n.2731-1648A>G) c.1818A>G (p.Thr606=) n.3369A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944202T>G | CA483894710 | ATP7B | c.*894-1648A>C (n.*894-1648A>C) c.*1894A>C (n.*1894A>C) c.2529A>C (p.Thr843=) c.3150A>C (p.Thr1050=) c.2817A>C (p.Thr939=) c.2898A>C (p.Thr966=) c.2916A>C (p.Thr972=) n.3289A>C n.3513A>C c.2085A>C (p.Thr695=) c.1860A>C (p.Thr620=) c.2955A>C (p.Thr985=) n.370A>C c.1022-1648A>C c.*251A>C (n.*251A>C) n.3894A>C n.2495A>C c.3006A>C (p.Thr1002=) n.496A>C c.3054A>C (p.Thr1018=) c.3114A>C (p.Thr1038=) c.2664A>C (p.Thr888=) c.966A>C (p.Thr322=) c.877-1648A>C (n.877-1648A>C) c.3015A>C (p.Thr1005=) c.3061-1648A>C (n.3061-1648A>C) c.2736A>C (p.Thr912=) c.2731-1648A>C (n.2731-1648A>C) c.1818A>C (p.Thr606=) n.3369A>C | |
13 | g.51944202T= | CA2091563963 | ATP7B | c.*894-1648A= (n.*894-1648A=) c.*1894A= (n.*1894A=) c.2529A= (p.Thr843=) c.3150A= (p.Thr1050=) c.2817A= (p.Thr939=) c.2898A= (p.Thr966=) c.2916A= (p.Thr972=) n.3289A= n.3513A= c.2085A= (p.Thr695=) c.1860A= (p.Thr620=) c.2955A= (p.Thr985=) n.370A= c.1022-1648A= c.*251A= (n.*251A=) n.3894A= n.2495A= c.3006A= (p.Thr1002=) n.496A= c.3054A= (p.Thr1018=) c.3114A= (p.Thr1038=) c.2664A= (p.Thr888=) c.966A= (p.Thr322=) c.877-1648A= (n.877-1648A=) c.3015A= (p.Thr1005=) c.3061-1648A= (n.3061-1648A=) c.2736A= (p.Thr912=) c.2731-1648A= (n.2731-1648A=) c.1818A= (p.Thr606=) n.3369A= | |
13 | g.51944202dup | CA2842235516 | ATP7B | c.*894-1648dup (n.*894-1648dup) c.*1894dup (n.*1894dup) c.2529dup (p.Leu844ThrfsTer18) c.3150dup (p.Leu1051ThrfsTer18) c.2817dup (p.Leu940ThrfsTer18) c.2898dup (p.Leu967ThrfsTer18) c.2916dup (p.Leu973ThrfsTer18) n.3289dup n.3513dup c.2085dup (p.Leu696ThrfsTer18) c.1860dup (p.Leu621ThrfsTer18) c.2955dup (p.Leu986ThrfsTer18) n.370dup c.1022-1648dup c.*251dup (n.*251dup) n.3894dup n.2495dup c.3006dup (p.Leu1003ThrfsTer18) n.496dup c.3054dup (p.Leu1019ThrfsTer18) c.3114dup (p.Leu1039ThrfsTer18) c.2664dup (p.Leu889ThrfsTer18) c.966dup (p.Leu323ThrfsTer18) c.877-1648dup (n.877-1648dup) c.3015dup (p.Leu1006ThrfsTer18) c.3061-1648dup (n.3061-1648dup) c.2736dup (p.Leu913ThrfsTer18) c.2731-1648dup (n.2731-1648dup) c.1818dup (p.Leu607ThrfsTer18) n.3369dup | |
13 | g.51944203G>A | CA388030144 | ATP7B | c.*894-1649C>T (n.*894-1649C>T) c.*1893C>T (n.*1893C>T) c.2528C>T (p.Thr843Ile) c.3149C>T (p.Thr1050Ile) c.2816C>T (p.Thr939Ile) c.2897C>T (p.Thr966Ile) c.2915C>T (p.Thr972Ile) n.3288C>T n.3512C>T c.2084C>T (p.Thr695Ile) c.1859C>T (p.Thr620Ile) c.2954C>T (p.Thr985Ile) n.369C>T c.1022-1649C>T c.*250C>T (n.*250C>T) n.3893C>T n.2494C>T c.3005C>T (p.Thr1002Ile) n.495C>T c.3053C>T (p.Thr1018Ile) c.3113C>T (p.Thr1038Ile) c.2663C>T (p.Thr888Ile) c.965C>T (p.Thr322Ile) c.877-1649C>T (n.877-1649C>T) c.3014C>T (p.Thr1005Ile) c.3061-1649C>T (n.3061-1649C>T) c.2735C>T (p.Thr912Ile) c.2731-1649C>T (n.2731-1649C>T) c.1817C>T (p.Thr606Ile) n.3368C>T | |
13 | g.51944203G>C | CA388030142 | ATP7B | c.*894-1649C>G (n.*894-1649C>G) c.*1893C>G (n.*1893C>G) c.2528C>G (p.Thr843Arg) c.3149C>G (p.Thr1050Arg) c.2816C>G (p.Thr939Arg) c.2897C>G (p.Thr966Arg) c.2915C>G (p.Thr972Arg) n.3288C>G n.3512C>G c.2084C>G (p.Thr695Arg) c.1859C>G (p.Thr620Arg) c.2954C>G (p.Thr985Arg) n.369C>G c.1022-1649C>G c.*250C>G (n.*250C>G) n.3893C>G n.2494C>G c.3005C>G (p.Thr1002Arg) n.495C>G c.3053C>G (p.Thr1018Arg) c.3113C>G (p.Thr1038Arg) c.2663C>G (p.Thr888Arg) c.965C>G (p.Thr322Arg) c.877-1649C>G (n.877-1649C>G) c.3014C>G (p.Thr1005Arg) c.3061-1649C>G (n.3061-1649C>G) c.2735C>G (p.Thr912Arg) c.2731-1649C>G (n.2731-1649C>G) c.1817C>G (p.Thr606Arg) n.3368C>G | |
13 | g.51944203G>T | CA388030139 | ATP7B | c.*894-1649C>A (n.*894-1649C>A) c.*1893C>A (n.*1893C>A) c.2528C>A (p.Thr843Lys) c.3149C>A (p.Thr1050Lys) c.2816C>A (p.Thr939Lys) c.2897C>A (p.Thr966Lys) c.2915C>A (p.Thr972Lys) n.3288C>A n.3512C>A c.2084C>A (p.Thr695Lys) c.1859C>A (p.Thr620Lys) c.2954C>A (p.Thr985Lys) n.369C>A c.1022-1649C>A c.*250C>A (n.*250C>A) n.3893C>A n.2494C>A c.3005C>A (p.Thr1002Lys) n.495C>A c.3053C>A (p.Thr1018Lys) c.3113C>A (p.Thr1038Lys) c.2663C>A (p.Thr888Lys) c.965C>A (p.Thr322Lys) c.877-1649C>A (n.877-1649C>A) c.3014C>A (p.Thr1005Lys) c.3061-1649C>A (n.3061-1649C>A) c.2735C>A (p.Thr912Lys) c.2731-1649C>A (n.2731-1649C>A) c.1817C>A (p.Thr606Lys) n.3368C>A | |
13 | g.51944204T>A | CA388030146 | ATP7B | c.*894-1650A>T (n.*894-1650A>T) c.*1892A>T (n.*1892A>T) c.2527A>T (p.Thr843Ser) c.3148A>T (p.Thr1050Ser) c.2815A>T (p.Thr939Ser) c.2896A>T (p.Thr966Ser) c.2914A>T (p.Thr972Ser) n.3287A>T n.3511A>T c.2083A>T (p.Thr695Ser) c.1858A>T (p.Thr620Ser) c.2953A>T (p.Thr985Ser) n.368A>T c.1022-1650A>T c.*249A>T (n.*249A>T) n.3892A>T n.2493A>T c.3004A>T (p.Thr1002Ser) n.494A>T c.3052A>T (p.Thr1018Ser) c.3112A>T (p.Thr1038Ser) c.2662A>T (p.Thr888Ser) c.964A>T (p.Thr322Ser) c.877-1650A>T (n.877-1650A>T) c.3013A>T (p.Thr1005Ser) c.3061-1650A>T (n.3061-1650A>T) c.2734A>T (p.Thr912Ser) c.2731-1650A>T (n.2731-1650A>T) c.1816A>T (p.Thr606Ser) n.3367A>T | |
13 | g.51944204T>C | CA388030149 | ATP7B | c.*894-1650A>G (n.*894-1650A>G) c.*1892A>G (n.*1892A>G) c.2527A>G (p.Thr843Ala) c.3148A>G (p.Thr1050Ala) c.2815A>G (p.Thr939Ala) c.2896A>G (p.Thr966Ala) c.2914A>G (p.Thr972Ala) n.3287A>G n.3511A>G c.2083A>G (p.Thr695Ala) c.1858A>G (p.Thr620Ala) c.2953A>G (p.Thr985Ala) n.368A>G c.1022-1650A>G c.*249A>G (n.*249A>G) n.3892A>G n.2493A>G c.3004A>G (p.Thr1002Ala) n.494A>G c.3052A>G (p.Thr1018Ala) c.3112A>G (p.Thr1038Ala) c.2662A>G (p.Thr888Ala) c.964A>G (p.Thr322Ala) c.877-1650A>G (n.877-1650A>G) c.3013A>G (p.Thr1005Ala) c.3061-1650A>G (n.3061-1650A>G) c.2734A>G (p.Thr912Ala) c.2731-1650A>G (n.2731-1650A>G) c.1816A>G (p.Thr606Ala) n.3367A>G | gnomAD v4 |
13 | g.51944204T>G | CA388030147 | ATP7B | c.*894-1650A>C (n.*894-1650A>C) c.*1892A>C (n.*1892A>C) c.2527A>C (p.Thr843Pro) c.3148A>C (p.Thr1050Pro) c.2815A>C (p.Thr939Pro) c.2896A>C (p.Thr966Pro) c.2914A>C (p.Thr972Pro) n.3287A>C n.3511A>C c.2083A>C (p.Thr695Pro) c.1858A>C (p.Thr620Pro) c.2953A>C (p.Thr985Pro) n.368A>C c.1022-1650A>C c.*249A>C (n.*249A>C) n.3892A>C n.2493A>C c.3004A>C (p.Thr1002Pro) n.494A>C c.3052A>C (p.Thr1018Pro) c.3112A>C (p.Thr1038Pro) c.2662A>C (p.Thr888Pro) c.964A>C (p.Thr322Pro) c.877-1650A>C (n.877-1650A>C) c.3013A>C (p.Thr1005Pro) c.3061-1650A>C (n.3061-1650A>C) c.2734A>C (p.Thr912Pro) c.2731-1650A>C (n.2731-1650A>C) c.1816A>C (p.Thr606Pro) n.3367A>C | |
13 | g.51944204_51944205delinsTG | CA2091563969 | ATP7B | c.*894-1651_*894-1650delinsCA (n.*894-1651_*894-1650delinsCA) c.*1891_*1892delinsCA (n.*1891_*1892delinsCA) c.2526_2527delinsCA (p.Ala842=) c.3147_3148delinsCA (p.Ala1049=) c.2814_2815delinsCA (p.Ala938=) c.2895_2896delinsCA (p.Ala965=) c.2913_2914delinsCA (p.Ala971=) n.3286_3287delinsCA n.3510_3511delinsCA c.2082_2083delinsCA (p.Ala694=) c.1857_1858delinsCA (p.Ala619=) c.2952_2953delinsCA (p.Ala984=) n.367_368delinsCA c.1022-1651_1022-1650delinsCA c.*248_*249delinsCA (n.*248_*249delinsCA) n.3891_3892delinsCA n.2492_2493delinsCA c.3003_3004delinsCA (p.Ala1001=) n.493_494delinsCA c.3051_3052delinsCA (p.Ala1017=) c.3111_3112delinsCA (p.Ala1037=) c.2661_2662delinsCA (p.Ala887=) c.963_964delinsCA (p.Ala321=) c.877-1651_877-1650delinsCA (n.877-1651_877-1650delinsCA) c.3012_3013delinsCA (p.Ala1004=) c.3061-1651_3061-1650delinsCA (n.3061-1651_3061-1650delinsCA) c.2733_2734delinsCA (p.Ala911=) c.2731-1651_2731-1650delinsCA (n.2731-1651_2731-1650delinsCA) c.1815_1816delinsCA (p.Ala605=) n.3366_3367delinsCA | |
13 | g.51944205G>A | CA483894711 | ATP7B | c.*894-1651C>T (n.*894-1651C>T) c.*1891C>T (n.*1891C>T) c.2526C>T (p.Ala842=) c.3147C>T (p.Ala1049=) c.2814C>T (p.Ala938=) c.2895C>T (p.Ala965=) c.2913C>T (p.Ala971=) n.3286C>T n.3510C>T c.2082C>T (p.Ala694=) c.1857C>T (p.Ala619=) c.2952C>T (p.Ala984=) n.367C>T c.1022-1651C>T c.*248C>T (n.*248C>T) n.3891C>T n.2492C>T c.3003C>T (p.Ala1001=) n.493C>T c.3051C>T (p.Ala1017=) c.3111C>T (p.Ala1037=) c.2661C>T (p.Ala887=) c.963C>T (p.Ala321=) c.877-1651C>T (n.877-1651C>T) c.3012C>T (p.Ala1004=) c.3061-1651C>T (n.3061-1651C>T) c.2733C>T (p.Ala911=) c.2731-1651C>T (n.2731-1651C>T) c.1815C>T (p.Ala605=) n.3366C>T | |
13 | g.51944205G>C | CA483894712 | ATP7B | c.*894-1651C>G (n.*894-1651C>G) c.*1891C>G (n.*1891C>G) c.2526C>G (p.Ala842=) c.3147C>G (p.Ala1049=) c.2814C>G (p.Ala938=) c.2895C>G (p.Ala965=) c.2913C>G (p.Ala971=) n.3286C>G n.3510C>G c.2082C>G (p.Ala694=) c.1857C>G (p.Ala619=) c.2952C>G (p.Ala984=) n.367C>G c.1022-1651C>G c.*248C>G (n.*248C>G) n.3891C>G n.2492C>G c.3003C>G (p.Ala1001=) n.493C>G c.3051C>G (p.Ala1017=) c.3111C>G (p.Ala1037=) c.2661C>G (p.Ala887=) c.963C>G (p.Ala321=) c.877-1651C>G (n.877-1651C>G) c.3012C>G (p.Ala1004=) c.3061-1651C>G (n.3061-1651C>G) c.2733C>G (p.Ala911=) c.2731-1651C>G (n.2731-1651C>G) c.1815C>G (p.Ala605=) n.3366C>G | |
13 | g.51944205G>T | CA483894713 | ATP7B | c.*894-1651C>A (n.*894-1651C>A) c.*1891C>A (n.*1891C>A) c.2526C>A (p.Ala842=) c.3147C>A (p.Ala1049=) c.2814C>A (p.Ala938=) c.2895C>A (p.Ala965=) c.2913C>A (p.Ala971=) n.3286C>A n.3510C>A c.2082C>A (p.Ala694=) c.1857C>A (p.Ala619=) c.2952C>A (p.Ala984=) n.367C>A c.1022-1651C>A c.*248C>A (n.*248C>A) n.3891C>A n.2492C>A c.3003C>A (p.Ala1001=) n.493C>A c.3051C>A (p.Ala1017=) c.3111C>A (p.Ala1037=) c.2661C>A (p.Ala887=) c.963C>A (p.Ala321=) c.877-1651C>A (n.877-1651C>A) c.3012C>A (p.Ala1004=) c.3061-1651C>A (n.3061-1651C>A) c.2733C>A (p.Ala911=) c.2731-1651C>A (n.2731-1651C>A) c.1815C>A (p.Ala605=) n.3366C>A | |
13 | g.51944206del | CA6988796 | ATP7B | c.*894-1651del (n.*894-1651del) c.*1891del (n.*1891del) c.2526del (p.Thr843HisfsTer?) c.3147del (p.Thr1050HisfsTer?) c.2814del (p.Thr939HisfsTer?) c.2895del (p.Thr966HisfsTer?) c.2913del (p.Thr972HisfsTer?) n.3286del n.3510del c.2082del (p.Thr695HisfsTer?) c.1857del (p.Thr620HisfsTer?) c.2952del (p.Thr985HisfsTer?) n.367del c.1022-1651del c.*248del (n.*248del) n.3891del n.2492del c.3003del (p.Thr1002HisfsTer?) n.493del c.3051del (p.Thr1018HisfsTer?) c.3111del (p.Thr1038HisfsTer?) c.2661del (p.Thr888HisfsTer?) c.963del (p.Thr322HisfsTer?) c.877-1651del (n.877-1651del) c.3012del (p.Thr1005HisfsTer?) c.3061-1651del (n.3061-1651del) c.2733del (p.Thr912HisfsTer?) c.2731-1651del (n.2731-1651del) c.1815del (p.Thr606HisfsTer?) n.3366del | ClinVar dbSNP ExAC gnomAD v4 |
13 | g.51944206G>A | CA6988797 | ATP7B | c.*894-1652C>T (n.*894-1652C>T) c.*1890C>T (n.*1890C>T) c.2525C>T (p.Ala842Val) c.3146C>T (p.Ala1049Val) c.2813C>T (p.Ala938Val) c.2894C>T (p.Ala965Val) c.2912C>T (p.Ala971Val) n.3285C>T n.3509C>T c.2081C>T (p.Ala694Val) c.1856C>T (p.Ala619Val) c.2951C>T (p.Ala984Val) n.366C>T c.1022-1652C>T c.*247C>T (n.*247C>T) n.3890C>T n.2491C>T c.3002C>T (p.Ala1001Val) n.492C>T c.3050C>T (p.Ala1017Val) c.3110C>T (p.Ala1037Val) c.2660C>T (p.Ala887Val) c.962C>T (p.Ala321Val) c.877-1652C>T (n.877-1652C>T) c.3011C>T (p.Ala1004Val) c.3061-1652C>T (n.3061-1652C>T) c.2732C>T (p.Ala911Val) c.2731-1652C>T (n.2731-1652C>T) c.1814C>T (p.Ala605Val) n.3365C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944206G>C | CA388030157 | ATP7B | c.*894-1652C>G (n.*894-1652C>G) c.*1890C>G (n.*1890C>G) c.2525C>G (p.Ala842Gly) c.3146C>G (p.Ala1049Gly) c.2813C>G (p.Ala938Gly) c.2894C>G (p.Ala965Gly) c.2912C>G (p.Ala971Gly) n.3285C>G n.3509C>G c.2081C>G (p.Ala694Gly) c.1856C>G (p.Ala619Gly) c.2951C>G (p.Ala984Gly) n.366C>G c.1022-1652C>G c.*247C>G (n.*247C>G) n.3890C>G n.2491C>G c.3002C>G (p.Ala1001Gly) n.492C>G c.3050C>G (p.Ala1017Gly) c.3110C>G (p.Ala1037Gly) c.2660C>G (p.Ala887Gly) c.962C>G (p.Ala321Gly) c.877-1652C>G (n.877-1652C>G) c.3011C>G (p.Ala1004Gly) c.3061-1652C>G (n.3061-1652C>G) c.2732C>G (p.Ala911Gly) c.2731-1652C>G (n.2731-1652C>G) c.1814C>G (p.Ala605Gly) n.3365C>G | |
13 | g.51944206G= | CA2091563980 | ATP7B | c.*894-1652C= (n.*894-1652C=) c.*1890C= (n.*1890C=) c.2525C= (p.Ala842=) c.3146C= (p.Ala1049=) c.2813C= (p.Ala938=) c.2894C= (p.Ala965=) c.2912C= (p.Ala971=) n.3285C= n.3509C= c.2081C= (p.Ala694=) c.1856C= (p.Ala619=) c.2951C= (p.Ala984=) n.366C= c.1022-1652C= c.*247C= (n.*247C=) n.3890C= n.2491C= c.3002C= (p.Ala1001=) n.492C= c.3050C= (p.Ala1017=) c.3110C= (p.Ala1037=) c.2660C= (p.Ala887=) c.962C= (p.Ala321=) c.877-1652C= (n.877-1652C=) c.3011C= (p.Ala1004=) c.3061-1652C= (n.3061-1652C=) c.2732C= (p.Ala911=) c.2731-1652C= (n.2731-1652C=) c.1814C= (p.Ala605=) n.3365C= | |
13 | g.51944206G>T | CA388030159 | ATP7B | c.*894-1652C>A (n.*894-1652C>A) c.*1890C>A (n.*1890C>A) c.2525C>A (p.Ala842Asp) c.3146C>A (p.Ala1049Asp) c.2813C>A (p.Ala938Asp) c.2894C>A (p.Ala965Asp) c.2912C>A (p.Ala971Asp) n.3285C>A n.3509C>A c.2081C>A (p.Ala694Asp) c.1856C>A (p.Ala619Asp) c.2951C>A (p.Ala984Asp) n.366C>A c.1022-1652C>A c.*247C>A (n.*247C>A) n.3890C>A n.2491C>A c.3002C>A (p.Ala1001Asp) n.492C>A c.3050C>A (p.Ala1017Asp) c.3110C>A (p.Ala1037Asp) c.2660C>A (p.Ala887Asp) c.962C>A (p.Ala321Asp) c.877-1652C>A (n.877-1652C>A) c.3011C>A (p.Ala1004Asp) c.3061-1652C>A (n.3061-1652C>A) c.2732C>A (p.Ala911Asp) c.2731-1652C>A (n.2731-1652C>A) c.1814C>A (p.Ala605Asp) n.3365C>A | |
13 | g.51944207C>A | CA388030162 | ATP7B | c.*894-1653G>T (n.*894-1653G>T) c.*1889G>T (n.*1889G>T) c.2524G>T (p.Ala842Ser) c.3145G>T (p.Ala1049Ser) c.2812G>T (p.Ala938Ser) c.2893G>T (p.Ala965Ser) c.2911G>T (p.Ala971Ser) n.3284G>T n.3508G>T c.2080G>T (p.Ala694Ser) c.1855G>T (p.Ala619Ser) c.2950G>T (p.Ala984Ser) n.365G>T c.1022-1653G>T c.*246G>T (n.*246G>T) n.3889G>T n.2490G>T c.3001G>T (p.Ala1001Ser) n.491G>T c.3049G>T (p.Ala1017Ser) c.3109G>T (p.Ala1037Ser) c.2659G>T (p.Ala887Ser) c.961G>T (p.Ala321Ser) c.877-1653G>T (n.877-1653G>T) c.3010G>T (p.Ala1004Ser) c.3061-1653G>T (n.3061-1653G>T) c.2731G>T (p.Ala911Ser) c.2731-1653G>T (n.2731-1653G>T) c.1813G>T (p.Ala605Ser) n.3364G>T | |
13 | g.51944207C>G | CA388030166 | ATP7B | c.*894-1653G>C (n.*894-1653G>C) c.*1889G>C (n.*1889G>C) c.2524G>C (p.Ala842Pro) c.3145G>C (p.Ala1049Pro) c.2812G>C (p.Ala938Pro) c.2893G>C (p.Ala965Pro) c.2911G>C (p.Ala971Pro) n.3284G>C n.3508G>C c.2080G>C (p.Ala694Pro) c.1855G>C (p.Ala619Pro) c.2950G>C (p.Ala984Pro) n.365G>C c.1022-1653G>C c.*246G>C (n.*246G>C) n.3889G>C n.2490G>C c.3001G>C (p.Ala1001Pro) n.491G>C c.3049G>C (p.Ala1017Pro) c.3109G>C (p.Ala1037Pro) c.2659G>C (p.Ala887Pro) c.961G>C (p.Ala321Pro) c.877-1653G>C (n.877-1653G>C) c.3010G>C (p.Ala1004Pro) c.3061-1653G>C (n.3061-1653G>C) c.2731G>C (p.Ala911Pro) c.2731-1653G>C (n.2731-1653G>C) c.1813G>C (p.Ala605Pro) n.3364G>C | gnomAD v4 |
13 | g.51944207C>T | CA388030172 | ATP7B | c.*894-1653G>A (n.*894-1653G>A) c.*1889G>A (n.*1889G>A) c.2524G>A (p.Ala842Thr) c.3145G>A (p.Ala1049Thr) c.2812G>A (p.Ala938Thr) c.2893G>A (p.Ala965Thr) c.2911G>A (p.Ala971Thr) n.3284G>A n.3508G>A c.2080G>A (p.Ala694Thr) c.1855G>A (p.Ala619Thr) c.2950G>A (p.Ala984Thr) n.365G>A c.1022-1653G>A c.*246G>A (n.*246G>A) n.3889G>A n.2490G>A c.3001G>A (p.Ala1001Thr) n.491G>A c.3049G>A (p.Ala1017Thr) c.3109G>A (p.Ala1037Thr) c.2659G>A (p.Ala887Thr) c.961G>A (p.Ala321Thr) c.877-1653G>A (n.877-1653G>A) c.3010G>A (p.Ala1004Thr) c.3061-1653G>A (n.3061-1653G>A) c.2731G>A (p.Ala911Thr) c.2731-1653G>A (n.2731-1653G>A) c.1813G>A (p.Ala605Thr) n.3364G>A | gnomAD v4 |
13 | g.51944208C>A | CA483894714 | ATP7B | c.*894-1654G>T (n.*894-1654G>T) c.*1888G>T (n.*1888G>T) c.2523G>T (p.Val841=) c.3144G>T (p.Val1048=) c.2811G>T (p.Val937=) c.2892G>T (p.Val964=) c.2910G>T (p.Val970=) n.3283G>T n.3507G>T c.2079G>T (p.Val693=) c.1854G>T (p.Val618=) c.2949G>T (p.Val983=) n.364G>T c.1022-1654G>T c.*245G>T (n.*245G>T) n.3888G>T n.2489G>T c.3000G>T (p.Val1000=) n.490G>T c.3048G>T (p.Val1016=) c.3108G>T (p.Val1036=) c.2658G>T (p.Val886=) c.960G>T (p.Val320=) c.877-1654G>T (n.877-1654G>T) c.3009G>T (p.Val1003=) c.3061-1654G>T (n.3061-1654G>T) c.2730G>T (p.Val910=) c.2731-1654G>T (n.2731-1654G>T) c.1812G>T (p.Val604=) n.3363G>T | |
13 | g.51944208C>G | CA483894716 | ATP7B | c.*894-1654G>C (n.*894-1654G>C) c.*1888G>C (n.*1888G>C) c.2523G>C (p.Val841=) c.3144G>C (p.Val1048=) c.2811G>C (p.Val937=) c.2892G>C (p.Val964=) c.2910G>C (p.Val970=) n.3283G>C n.3507G>C c.2079G>C (p.Val693=) c.1854G>C (p.Val618=) c.2949G>C (p.Val983=) n.364G>C c.1022-1654G>C c.*245G>C (n.*245G>C) n.3888G>C n.2489G>C c.3000G>C (p.Val1000=) n.490G>C c.3048G>C (p.Val1016=) c.3108G>C (p.Val1036=) c.2658G>C (p.Val886=) c.960G>C (p.Val320=) c.877-1654G>C (n.877-1654G>C) c.3009G>C (p.Val1003=) c.3061-1654G>C (n.3061-1654G>C) c.2730G>C (p.Val910=) c.2731-1654G>C (n.2731-1654G>C) c.1812G>C (p.Val604=) n.3363G>C | |
13 | g.51944208C>T | CA483894715 | ATP7B | c.*894-1654G>A (n.*894-1654G>A) c.*1888G>A (n.*1888G>A) c.2523G>A (p.Val841=) c.3144G>A (p.Val1048=) c.2811G>A (p.Val937=) c.2892G>A (p.Val964=) c.2910G>A (p.Val970=) n.3283G>A n.3507G>A c.2079G>A (p.Val693=) c.1854G>A (p.Val618=) c.2949G>A (p.Val983=) n.364G>A c.1022-1654G>A c.*245G>A (n.*245G>A) n.3888G>A n.2489G>A c.3000G>A (p.Val1000=) n.490G>A c.3048G>A (p.Val1016=) c.3108G>A (p.Val1036=) c.2658G>A (p.Val886=) c.960G>A (p.Val320=) c.877-1654G>A (n.877-1654G>A) c.3009G>A (p.Val1003=) c.3061-1654G>A (n.3061-1654G>A) c.2730G>A (p.Val910=) c.2731-1654G>A (n.2731-1654G>A) c.1812G>A (p.Val604=) n.3363G>A | |
13 | g.51944209A= | CA2091563989 | ATP7B | c.*894-1655T= (n.*894-1655T=) c.*1887T= (n.*1887T=) c.2522T= (p.Val841=) c.3143T= (p.Val1048=) c.2810T= (p.Val937=) c.2891T= (p.Val964=) c.2909T= (p.Val970=) n.3282T= n.3506T= c.2078T= (p.Val693=) c.1853T= (p.Val618=) c.2948T= (p.Val983=) n.363T= c.1022-1655T= c.*244T= (n.*244T=) n.3887T= n.2488T= c.2999T= (p.Val1000=) n.489T= c.3047T= (p.Val1016=) c.3107T= (p.Val1036=) c.2657T= (p.Val886=) c.959T= (p.Val320=) c.877-1655T= (n.877-1655T=) c.3008T= (p.Val1003=) c.3061-1655T= (n.3061-1655T=) c.2729T= (p.Val910=) c.2731-1655T= (n.2731-1655T=) c.1811T= (p.Val604=) n.3362T= | |
13 | g.51944209A>C | CA388030174 | ATP7B | c.*894-1655T>G (n.*894-1655T>G) c.*1887T>G (n.*1887T>G) c.2522T>G (p.Val841Gly) c.3143T>G (p.Val1048Gly) c.2810T>G (p.Val937Gly) c.2891T>G (p.Val964Gly) c.2909T>G (p.Val970Gly) n.3282T>G n.3506T>G c.2078T>G (p.Val693Gly) c.1853T>G (p.Val618Gly) c.2948T>G (p.Val983Gly) n.363T>G c.1022-1655T>G c.*244T>G (n.*244T>G) n.3887T>G n.2488T>G c.2999T>G (p.Val1000Gly) n.489T>G c.3047T>G (p.Val1016Gly) c.3107T>G (p.Val1036Gly) c.2657T>G (p.Val886Gly) c.959T>G (p.Val320Gly) c.877-1655T>G (n.877-1655T>G) c.3008T>G (p.Val1003Gly) c.3061-1655T>G (n.3061-1655T>G) c.2729T>G (p.Val910Gly) c.2731-1655T>G (n.2731-1655T>G) c.1811T>G (p.Val604Gly) n.3362T>G | |
13 | g.51944209A>G | CA388030176 | ATP7B | c.*894-1655T>C (n.*894-1655T>C) c.*1887T>C (n.*1887T>C) c.2522T>C (p.Val841Ala) c.3143T>C (p.Val1048Ala) c.2810T>C (p.Val937Ala) c.2891T>C (p.Val964Ala) c.2909T>C (p.Val970Ala) n.3282T>C n.3506T>C c.2078T>C (p.Val693Ala) c.1853T>C (p.Val618Ala) c.2948T>C (p.Val983Ala) n.363T>C c.1022-1655T>C c.*244T>C (n.*244T>C) n.3887T>C n.2488T>C c.2999T>C (p.Val1000Ala) n.489T>C c.3047T>C (p.Val1016Ala) c.3107T>C (p.Val1036Ala) c.2657T>C (p.Val886Ala) c.959T>C (p.Val320Ala) c.877-1655T>C (n.877-1655T>C) c.3008T>C (p.Val1003Ala) c.3061-1655T>C (n.3061-1655T>C) c.2729T>C (p.Val910Ala) c.2731-1655T>C (n.2731-1655T>C) c.1811T>C (p.Val604Ala) n.3362T>C | |
13 | g.51944209A>T | CA388030178 | ATP7B | c.*894-1655T>A (n.*894-1655T>A) c.*1887T>A (n.*1887T>A) c.2522T>A (p.Val841Glu) c.3143T>A (p.Val1048Glu) c.2810T>A (p.Val937Glu) c.2891T>A (p.Val964Glu) c.2909T>A (p.Val970Glu) n.3282T>A n.3506T>A c.2078T>A (p.Val693Glu) c.1853T>A (p.Val618Glu) c.2948T>A (p.Val983Glu) n.363T>A c.1022-1655T>A c.*244T>A (n.*244T>A) n.3887T>A n.2488T>A c.2999T>A (p.Val1000Glu) n.489T>A c.3047T>A (p.Val1016Glu) c.3107T>A (p.Val1036Glu) c.2657T>A (p.Val886Glu) c.959T>A (p.Val320Glu) c.877-1655T>A (n.877-1655T>A) c.3008T>A (p.Val1003Glu) c.3061-1655T>A (n.3061-1655T>A) c.2729T>A (p.Val910Glu) c.2731-1655T>A (n.2731-1655T>A) c.1811T>A (p.Val604Glu) n.3362T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944210C>A | CA388030185 | ATP7B | c.*894-1656G>T (n.*894-1656G>T) c.*1886G>T (n.*1886G>T) c.2521G>T (p.Val841Leu) c.3142G>T (p.Val1048Leu) c.2809G>T (p.Val937Leu) c.2890G>T (p.Val964Leu) c.2908G>T (p.Val970Leu) n.3281G>T n.3505G>T c.2077G>T (p.Val693Leu) c.1852G>T (p.Val618Leu) c.2947G>T (p.Val983Leu) n.362G>T c.1022-1656G>T c.*243G>T (n.*243G>T) n.3886G>T n.2487G>T c.2998G>T (p.Val1000Leu) n.488G>T c.3046G>T (p.Val1016Leu) c.3106G>T (p.Val1036Leu) c.2656G>T (p.Val886Leu) c.958G>T (p.Val320Leu) c.877-1656G>T (n.877-1656G>T) c.3007G>T (p.Val1003Leu) c.3061-1656G>T (n.3061-1656G>T) c.2728G>T (p.Val910Leu) c.2731-1656G>T (n.2731-1656G>T) c.1810G>T (p.Val604Leu) n.3361G>T | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944210C= | CA2091563995 | ATP7B | c.*894-1656G= (n.*894-1656G=) c.*1886G= (n.*1886G=) c.2521G= (p.Val841=) c.3142G= (p.Val1048=) c.2809G= (p.Val937=) c.2890G= (p.Val964=) c.2908G= (p.Val970=) n.3281G= n.3505G= c.2077G= (p.Val693=) c.1852G= (p.Val618=) c.2947G= (p.Val983=) n.362G= c.1022-1656G= c.*243G= (n.*243G=) n.3886G= n.2487G= c.2998G= (p.Val1000=) n.488G= c.3046G= (p.Val1016=) c.3106G= (p.Val1036=) c.2656G= (p.Val886=) c.958G= (p.Val320=) c.877-1656G= (n.877-1656G=) c.3007G= (p.Val1003=) c.3061-1656G= (n.3061-1656G=) c.2728G= (p.Val910=) c.2731-1656G= (n.2731-1656G=) c.1810G= (p.Val604=) n.3361G= | |
13 | g.51944210C>G | CA388030182 | ATP7B | c.*894-1656G>C (n.*894-1656G>C) c.*1886G>C (n.*1886G>C) c.2521G>C (p.Val841Leu) c.3142G>C (p.Val1048Leu) c.2809G>C (p.Val937Leu) c.2890G>C (p.Val964Leu) c.2908G>C (p.Val970Leu) n.3281G>C n.3505G>C c.2077G>C (p.Val693Leu) c.1852G>C (p.Val618Leu) c.2947G>C (p.Val983Leu) n.362G>C c.1022-1656G>C c.*243G>C (n.*243G>C) n.3886G>C n.2487G>C c.2998G>C (p.Val1000Leu) n.488G>C c.3046G>C (p.Val1016Leu) c.3106G>C (p.Val1036Leu) c.2656G>C (p.Val886Leu) c.958G>C (p.Val320Leu) c.877-1656G>C (n.877-1656G>C) c.3007G>C (p.Val1003Leu) c.3061-1656G>C (n.3061-1656G>C) c.2728G>C (p.Val910Leu) c.2731-1656G>C (n.2731-1656G>C) c.1810G>C (p.Val604Leu) n.3361G>C | |
13 | g.51944210C>T | CA388030181 | ATP7B | c.*894-1656G>A (n.*894-1656G>A) c.*1886G>A (n.*1886G>A) c.2521G>A (p.Val841Met) c.3142G>A (p.Val1048Met) c.2809G>A (p.Val937Met) c.2890G>A (p.Val964Met) c.2908G>A (p.Val970Met) n.3281G>A n.3505G>A c.2077G>A (p.Val693Met) c.1852G>A (p.Val618Met) c.2947G>A (p.Val983Met) n.362G>A c.1022-1656G>A c.*243G>A (n.*243G>A) n.3886G>A n.2487G>A c.2998G>A (p.Val1000Met) n.488G>A c.3046G>A (p.Val1016Met) c.3106G>A (p.Val1036Met) c.2656G>A (p.Val886Met) c.958G>A (p.Val320Met) c.877-1656G>A (n.877-1656G>A) c.3007G>A (p.Val1003Met) c.3061-1656G>A (n.3061-1656G>A) c.2728G>A (p.Val910Met) c.2731-1656G>A (n.2731-1656G>A) c.1810G>A (p.Val604Met) n.3361G>A | gnomAD v4 |
13 | g.51944211A= | CA2091564000 | ATP7B | c.*894-1657T= (n.*894-1657T=) c.*1885T= (n.*1885T=) c.2520T= (p.Asp840=) c.3141T= (p.Asp1047=) c.2808T= (p.Asp936=) c.2889T= (p.Asp963=) c.2907T= (p.Asp969=) n.3280T= n.3504T= c.2076T= (p.Asp692=) c.1851T= (p.Asp617=) c.2946T= (p.Asp982=) n.361T= c.1022-1657T= c.*242T= (n.*242T=) n.3885T= n.2486T= c.2997T= (p.Asp999=) n.487T= c.3045T= (p.Asp1015=) c.3105T= (p.Asp1035=) c.2655T= (p.Asp885=) c.957T= (p.Asp319=) c.877-1657T= (n.877-1657T=) c.3006T= (p.Asp1002=) c.3061-1657T= (n.3061-1657T=) c.2727T= (p.Asp909=) c.2731-1657T= (n.2731-1657T=) c.1809T= (p.Asp603=) n.3360T= | |
13 | g.51944211A>C | CA388030191 | ATP7B | c.*894-1657T>G (n.*894-1657T>G) c.*1885T>G (n.*1885T>G) c.2520T>G (p.Asp840Glu) c.3141T>G (p.Asp1047Glu) c.2808T>G (p.Asp936Glu) c.2889T>G (p.Asp963Glu) c.2907T>G (p.Asp969Glu) n.3280T>G n.3504T>G c.2076T>G (p.Asp692Glu) c.1851T>G (p.Asp617Glu) c.2946T>G (p.Asp982Glu) n.361T>G c.1022-1657T>G c.*242T>G (n.*242T>G) n.3885T>G n.2486T>G c.2997T>G (p.Asp999Glu) n.487T>G c.3045T>G (p.Asp1015Glu) c.3105T>G (p.Asp1035Glu) c.2655T>G (p.Asp885Glu) c.957T>G (p.Asp319Glu) c.877-1657T>G (n.877-1657T>G) c.3006T>G (p.Asp1002Glu) c.3061-1657T>G (n.3061-1657T>G) c.2727T>G (p.Asp909Glu) c.2731-1657T>G (n.2731-1657T>G) c.1809T>G (p.Asp603Glu) n.3360T>G | |
13 | g.51944211A>G | CA483894717 | ATP7B | c.*894-1657T>C (n.*894-1657T>C) c.*1885T>C (n.*1885T>C) c.2520T>C (p.Asp840=) c.3141T>C (p.Asp1047=) c.2808T>C (p.Asp936=) c.2889T>C (p.Asp963=) c.2907T>C (p.Asp969=) n.3280T>C n.3504T>C c.2076T>C (p.Asp692=) c.1851T>C (p.Asp617=) c.2946T>C (p.Asp982=) n.361T>C c.1022-1657T>C c.*242T>C (n.*242T>C) n.3885T>C n.2486T>C c.2997T>C (p.Asp999=) n.487T>C c.3045T>C (p.Asp1015=) c.3105T>C (p.Asp1035=) c.2655T>C (p.Asp885=) c.957T>C (p.Asp319=) c.877-1657T>C (n.877-1657T>C) c.3006T>C (p.Asp1002=) c.3061-1657T>C (n.3061-1657T>C) c.2727T>C (p.Asp909=) c.2731-1657T>C (n.2731-1657T>C) c.1809T>C (p.Asp603=) n.3360T>C | |
13 | g.51944211A>T | CA6988798 | ATP7B | c.*894-1657T>A (n.*894-1657T>A) c.*1885T>A (n.*1885T>A) c.2520T>A (p.Asp840Glu) c.3141T>A (p.Asp1047Glu) c.2808T>A (p.Asp936Glu) c.2889T>A (p.Asp963Glu) c.2907T>A (p.Asp969Glu) n.3280T>A n.3504T>A c.2076T>A (p.Asp692Glu) c.1851T>A (p.Asp617Glu) c.2946T>A (p.Asp982Glu) n.361T>A c.1022-1657T>A c.*242T>A (n.*242T>A) n.3885T>A n.2486T>A c.2997T>A (p.Asp999Glu) n.487T>A c.3045T>A (p.Asp1015Glu) c.3105T>A (p.Asp1035Glu) c.2655T>A (p.Asp885Glu) c.957T>A (p.Asp319Glu) c.877-1657T>A (n.877-1657T>A) c.3006T>A (p.Asp1002Glu) c.3061-1657T>A (n.3061-1657T>A) c.2727T>A (p.Asp909Glu) c.2731-1657T>A (n.2731-1657T>A) c.1809T>A (p.Asp603Glu) n.3360T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944212del | CA2499222491 | ATP7B | c.*894-1658del (n.*894-1658del) c.*1884del (n.*1884del) c.2519del (p.Asp840ValfsTer?) c.3140del (p.Asp1047ValfsTer?) c.2807del (p.Asp936ValfsTer?) c.2888del (p.Asp963ValfsTer?) c.2906del (p.Asp969ValfsTer?) n.3279del n.3503del c.2075del (p.Asp692ValfsTer?) c.1850del (p.Asp617ValfsTer?) c.2945del (p.Asp982ValfsTer?) n.360del c.1022-1658del c.*241del (n.*241del) n.3884del n.2485del c.2996del (p.Asp999ValfsTer?) n.486del c.3044del (p.Asp1015ValfsTer?) c.3104del (p.Asp1035ValfsTer?) c.2654del (p.Asp885ValfsTer?) c.956del (p.Asp319ValfsTer?) c.877-1658del (n.877-1658del) c.3005del (p.Asp1002ValfsTer?) c.3061-1658del (n.3061-1658del) c.2726del (p.Asp909ValfsTer?) c.2731-1658del (n.2731-1658del) c.1808del (p.Asp603ValfsTer?) n.3359del | ClinVar dbSNP |
13 | g.51944212T>A | CA388030192 | ATP7B | c.*894-1658A>T (n.*894-1658A>T) c.*1884A>T (n.*1884A>T) c.2519A>T (p.Asp840Val) c.3140A>T (p.Asp1047Val) c.2807A>T (p.Asp936Val) c.2888A>T (p.Asp963Val) c.2906A>T (p.Asp969Val) n.3279A>T n.3503A>T c.2075A>T (p.Asp692Val) c.1850A>T (p.Asp617Val) c.2945A>T (p.Asp982Val) n.360A>T c.1022-1658A>T c.*241A>T (n.*241A>T) n.3884A>T n.2485A>T c.2996A>T (p.Asp999Val) n.486A>T c.3044A>T (p.Asp1015Val) c.3104A>T (p.Asp1035Val) c.2654A>T (p.Asp885Val) c.956A>T (p.Asp319Val) c.877-1658A>T (n.877-1658A>T) c.3005A>T (p.Asp1002Val) c.3061-1658A>T (n.3061-1658A>T) c.2726A>T (p.Asp909Val) c.2731-1658A>T (n.2731-1658A>T) c.1808A>T (p.Asp603Val) n.3359A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944212T>C | CA388030193 | ATP7B | c.*894-1658A>G (n.*894-1658A>G) c.*1884A>G (n.*1884A>G) c.2519A>G (p.Asp840Gly) c.3140A>G (p.Asp1047Gly) c.2807A>G (p.Asp936Gly) c.2888A>G (p.Asp963Gly) c.2906A>G (p.Asp969Gly) n.3279A>G n.3503A>G c.2075A>G (p.Asp692Gly) c.1850A>G (p.Asp617Gly) c.2945A>G (p.Asp982Gly) n.360A>G c.1022-1658A>G c.*241A>G (n.*241A>G) n.3884A>G n.2485A>G c.2996A>G (p.Asp999Gly) n.486A>G c.3044A>G (p.Asp1015Gly) c.3104A>G (p.Asp1035Gly) c.2654A>G (p.Asp885Gly) c.956A>G (p.Asp319Gly) c.877-1658A>G (n.877-1658A>G) c.3005A>G (p.Asp1002Gly) c.3061-1658A>G (n.3061-1658A>G) c.2726A>G (p.Asp909Gly) c.2731-1658A>G (n.2731-1658A>G) c.1808A>G (p.Asp603Gly) n.3359A>G | |
13 | g.51944212T>G | CA388030194 | ATP7B | c.*894-1658A>C (n.*894-1658A>C) c.*1884A>C (n.*1884A>C) c.2519A>C (p.Asp840Ala) c.3140A>C (p.Asp1047Ala) c.2807A>C (p.Asp936Ala) c.2888A>C (p.Asp963Ala) c.2906A>C (p.Asp969Ala) n.3279A>C n.3503A>C c.2075A>C (p.Asp692Ala) c.1850A>C (p.Asp617Ala) c.2945A>C (p.Asp982Ala) n.360A>C c.1022-1658A>C c.*241A>C (n.*241A>C) n.3884A>C n.2485A>C c.2996A>C (p.Asp999Ala) n.486A>C c.3044A>C (p.Asp1015Ala) c.3104A>C (p.Asp1035Ala) c.2654A>C (p.Asp885Ala) c.956A>C (p.Asp319Ala) c.877-1658A>C (n.877-1658A>C) c.3005A>C (p.Asp1002Ala) c.3061-1658A>C (n.3061-1658A>C) c.2726A>C (p.Asp909Ala) c.2731-1658A>C (n.2731-1658A>C) c.1808A>C (p.Asp603Ala) n.3359A>C | |
13 | g.51944212T= | CA2091564007 | ATP7B | c.*894-1658A= (n.*894-1658A=) c.*1884A= (n.*1884A=) c.2519A= (p.Asp840=) c.3140A= (p.Asp1047=) c.2807A= (p.Asp936=) c.2888A= (p.Asp963=) c.2906A= (p.Asp969=) n.3279A= n.3503A= c.2075A= (p.Asp692=) c.1850A= (p.Asp617=) c.2945A= (p.Asp982=) n.360A= c.1022-1658A= c.*241A= (n.*241A=) n.3884A= n.2485A= c.2996A= (p.Asp999=) n.486A= c.3044A= (p.Asp1015=) c.3104A= (p.Asp1035=) c.2654A= (p.Asp885=) c.956A= (p.Asp319=) c.877-1658A= (n.877-1658A=) c.3005A= (p.Asp1002=) c.3061-1658A= (n.3061-1658A=) c.2726A= (p.Asp909=) c.2731-1658A= (n.2731-1658A=) c.1808A= (p.Asp603=) n.3359A= | |
13 | g.51944212dup | CA2091564004 | ATP7B | c.*894-1658dup (n.*894-1658dup) c.*1884dup (n.*1884dup) c.2519dup (p.Asp840GlufsTer22) c.3140dup (p.Asp1047GlufsTer22) c.2807dup (p.Asp936GlufsTer22) c.2888dup (p.Asp963GlufsTer22) c.2906dup (p.Asp969GlufsTer22) n.3279dup n.3503dup c.2075dup (p.Asp692GlufsTer22) c.1850dup (p.Asp617GlufsTer22) c.2945dup (p.Asp982GlufsTer22) n.360dup c.1022-1658dup c.*241dup (n.*241dup) n.3884dup n.2485dup c.2996dup (p.Asp999GlufsTer22) n.486dup c.3044dup (p.Asp1015GlufsTer22) c.3104dup (p.Asp1035GlufsTer22) c.2654dup (p.Asp885GlufsTer22) c.956dup (p.Asp319GlufsTer22) c.877-1658dup (n.877-1658dup) c.3005dup (p.Asp1002GlufsTer22) c.3061-1658dup (n.3061-1658dup) c.2726dup (p.Asp909GlufsTer22) c.2731-1658dup (n.2731-1658dup) c.1808dup (p.Asp603GlufsTer22) n.3359dup | ClinVar dbSNP |
13 | g.51944213C>A | CA388030195 | ATP7B | c.*894-1659G>T (n.*894-1659G>T) c.*1883G>T (n.*1883G>T) c.2518G>T (p.Asp840Tyr) c.3139G>T (p.Asp1047Tyr) c.2806G>T (p.Asp936Tyr) c.2887G>T (p.Asp963Tyr) c.2905G>T (p.Asp969Tyr) n.3278G>T n.3502G>T c.2074G>T (p.Asp692Tyr) c.1849G>T (p.Asp617Tyr) c.2944G>T (p.Asp982Tyr) n.359G>T c.1022-1659G>T c.*240G>T (n.*240G>T) n.3883G>T n.2484G>T c.2995G>T (p.Asp999Tyr) n.485G>T c.3043G>T (p.Asp1015Tyr) c.3103G>T (p.Asp1035Tyr) c.2653G>T (p.Asp885Tyr) c.955G>T (p.Asp319Tyr) c.877-1659G>T (n.877-1659G>T) c.3004G>T (p.Asp1002Tyr) c.3061-1659G>T (n.3061-1659G>T) c.2725G>T (p.Asp909Tyr) c.2731-1659G>T (n.2731-1659G>T) c.1807G>T (p.Asp603Tyr) n.3358G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944213C= | CA2091564017 | ATP7B | c.*894-1659G= (n.*894-1659G=) c.*1883G= (n.*1883G=) c.2518G= (p.Asp840=) c.3139G= (p.Asp1047=) c.2806G= (p.Asp936=) c.2887G= (p.Asp963=) c.2905G= (p.Asp969=) n.3278G= n.3502G= c.2074G= (p.Asp692=) c.1849G= (p.Asp617=) c.2944G= (p.Asp982=) n.359G= c.1022-1659G= c.*240G= (n.*240G=) n.3883G= n.2484G= c.2995G= (p.Asp999=) n.485G= c.3043G= (p.Asp1015=) c.3103G= (p.Asp1035=) c.2653G= (p.Asp885=) c.955G= (p.Asp319=) c.877-1659G= (n.877-1659G=) c.3004G= (p.Asp1002=) c.3061-1659G= (n.3061-1659G=) c.2725G= (p.Asp909=) c.2731-1659G= (n.2731-1659G=) c.1807G= (p.Asp603=) n.3358G= | |
13 | g.51944213C>G | CA388030197 | ATP7B | c.*894-1659G>C (n.*894-1659G>C) c.*1883G>C (n.*1883G>C) c.2518G>C (p.Asp840His) c.3139G>C (p.Asp1047His) c.2806G>C (p.Asp936His) c.2887G>C (p.Asp963His) c.2905G>C (p.Asp969His) n.3278G>C n.3502G>C c.2074G>C (p.Asp692His) c.1849G>C (p.Asp617His) c.2944G>C (p.Asp982His) n.359G>C c.1022-1659G>C c.*240G>C (n.*240G>C) n.3883G>C n.2484G>C c.2995G>C (p.Asp999His) n.485G>C c.3043G>C (p.Asp1015His) c.3103G>C (p.Asp1035His) c.2653G>C (p.Asp885His) c.955G>C (p.Asp319His) c.877-1659G>C (n.877-1659G>C) c.3004G>C (p.Asp1002His) c.3061-1659G>C (n.3061-1659G>C) c.2725G>C (p.Asp909His) c.2731-1659G>C (n.2731-1659G>C) c.1807G>C (p.Asp603His) n.3358G>C | |
13 | g.51944213C>T | CA388030198 | ATP7B | c.*894-1659G>A (n.*894-1659G>A) c.*1883G>A (n.*1883G>A) c.2518G>A (p.Asp840Asn) c.3139G>A (p.Asp1047Asn) c.2806G>A (p.Asp936Asn) c.2887G>A (p.Asp963Asn) c.2905G>A (p.Asp969Asn) n.3278G>A n.3502G>A c.2074G>A (p.Asp692Asn) c.1849G>A (p.Asp617Asn) c.2944G>A (p.Asp982Asn) n.359G>A c.1022-1659G>A c.*240G>A (n.*240G>A) n.3883G>A n.2484G>A c.2995G>A (p.Asp999Asn) n.485G>A c.3043G>A (p.Asp1015Asn) c.3103G>A (p.Asp1035Asn) c.2653G>A (p.Asp885Asn) c.955G>A (p.Asp319Asn) c.877-1659G>A (n.877-1659G>A) c.3004G>A (p.Asp1002Asn) c.3061-1659G>A (n.3061-1659G>A) c.2725G>A (p.Asp909Asn) c.2731-1659G>A (n.2731-1659G>A) c.1807G>A (p.Asp603Asn) n.3358G>A | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51944214C>A | CA483894718 | ATP7B | c.*894-1660G>T (n.*894-1660G>T) c.*1882G>T (n.*1882G>T) c.2517G>T (p.Gly839=) c.3138G>T (p.Gly1046=) c.2805G>T (p.Gly935=) c.2886G>T (p.Gly962=) c.2904G>T (p.Gly968=) n.3277G>T n.3501G>T c.2073G>T (p.Gly691=) c.1848G>T (p.Gly616=) c.2943G>T (p.Gly981=) n.358G>T c.1022-1660G>T c.*239G>T (n.*239G>T) n.3882G>T n.2483G>T c.2994G>T (p.Gly998=) n.484G>T c.3042G>T (p.Gly1014=) c.3102G>T (p.Gly1034=) c.2652G>T (p.Gly884=) c.954G>T (p.Gly318=) c.877-1660G>T (n.877-1660G>T) c.3003G>T (p.Gly1001=) c.3061-1660G>T (n.3061-1660G>T) c.2724G>T (p.Gly908=) c.2731-1660G>T (n.2731-1660G>T) c.1806G>T (p.Gly602=) n.3357G>T | |
13 | g.51944214C>G | CA483894719 | ATP7B | c.*894-1660G>C (n.*894-1660G>C) c.*1882G>C (n.*1882G>C) c.2517G>C (p.Gly839=) c.3138G>C (p.Gly1046=) c.2805G>C (p.Gly935=) c.2886G>C (p.Gly962=) c.2904G>C (p.Gly968=) n.3277G>C n.3501G>C c.2073G>C (p.Gly691=) c.1848G>C (p.Gly616=) c.2943G>C (p.Gly981=) n.358G>C c.1022-1660G>C c.*239G>C (n.*239G>C) n.3882G>C n.2483G>C c.2994G>C (p.Gly998=) n.484G>C c.3042G>C (p.Gly1014=) c.3102G>C (p.Gly1034=) c.2652G>C (p.Gly884=) c.954G>C (p.Gly318=) c.877-1660G>C (n.877-1660G>C) c.3003G>C (p.Gly1001=) c.3061-1660G>C (n.3061-1660G>C) c.2724G>C (p.Gly908=) c.2731-1660G>C (n.2731-1660G>C) c.1806G>C (p.Gly602=) n.3357G>C | |
13 | g.51944214C>T | CA483894720 | ATP7B | c.*894-1660G>A (n.*894-1660G>A) c.*1882G>A (n.*1882G>A) c.2517G>A (p.Gly839=) c.3138G>A (p.Gly1046=) c.2805G>A (p.Gly935=) c.2886G>A (p.Gly962=) c.2904G>A (p.Gly968=) n.3277G>A n.3501G>A c.2073G>A (p.Gly691=) c.1848G>A (p.Gly616=) c.2943G>A (p.Gly981=) n.358G>A c.1022-1660G>A c.*239G>A (n.*239G>A) n.3882G>A n.2483G>A c.2994G>A (p.Gly998=) n.484G>A c.3042G>A (p.Gly1014=) c.3102G>A (p.Gly1034=) c.2652G>A (p.Gly884=) c.954G>A (p.Gly318=) c.877-1660G>A (n.877-1660G>A) c.3003G>A (p.Gly1001=) c.3061-1660G>A (n.3061-1660G>A) c.2724G>A (p.Gly908=) c.2731-1660G>A (n.2731-1660G>A) c.1806G>A (p.Gly602=) n.3357G>A | ClinVar |
13 | g.51944215C>A | CA388030203 | ATP7B | c.*894-1661G>T (n.*894-1661G>T) c.*1881G>T (n.*1881G>T) c.2516G>T (p.Gly839Val) c.3137G>T (p.Gly1046Val) c.2804G>T (p.Gly935Val) c.2885G>T (p.Gly962Val) c.2903G>T (p.Gly968Val) n.3276G>T n.3500G>T c.2072G>T (p.Gly691Val) c.1847G>T (p.Gly616Val) c.2942G>T (p.Gly981Val) n.357G>T c.1022-1661G>T c.*238G>T (n.*238G>T) n.3881G>T n.2482G>T c.2993G>T (p.Gly998Val) n.483G>T c.3041G>T (p.Gly1014Val) c.3101G>T (p.Gly1034Val) c.2651G>T (p.Gly884Val) c.953G>T (p.Gly318Val) c.877-1661G>T (n.877-1661G>T) c.3002G>T (p.Gly1001Val) c.3061-1661G>T (n.3061-1661G>T) c.2723G>T (p.Gly908Val) c.2731-1661G>T (n.2731-1661G>T) c.1805G>T (p.Gly602Val) n.3356G>T | |
13 | g.51944215C>G | CA388030206 | ATP7B | c.*894-1661G>C (n.*894-1661G>C) c.*1881G>C (n.*1881G>C) c.2516G>C (p.Gly839Ala) c.3137G>C (p.Gly1046Ala) c.2804G>C (p.Gly935Ala) c.2885G>C (p.Gly962Ala) c.2903G>C (p.Gly968Ala) n.3276G>C n.3500G>C c.2072G>C (p.Gly691Ala) c.1847G>C (p.Gly616Ala) c.2942G>C (p.Gly981Ala) n.357G>C c.1022-1661G>C c.*238G>C (n.*238G>C) n.3881G>C n.2482G>C c.2993G>C (p.Gly998Ala) n.483G>C c.3041G>C (p.Gly1014Ala) c.3101G>C (p.Gly1034Ala) c.2651G>C (p.Gly884Ala) c.953G>C (p.Gly318Ala) c.877-1661G>C (n.877-1661G>C) c.3002G>C (p.Gly1001Ala) c.3061-1661G>C (n.3061-1661G>C) c.2723G>C (p.Gly908Ala) c.2731-1661G>C (n.2731-1661G>C) c.1805G>C (p.Gly602Ala) n.3356G>C | gnomAD v4 |
13 | g.51944215C>T | CA388030207 | ATP7B | c.*894-1661G>A (n.*894-1661G>A) c.*1881G>A (n.*1881G>A) c.2516G>A (p.Gly839Glu) c.3137G>A (p.Gly1046Glu) c.2804G>A (p.Gly935Glu) c.2885G>A (p.Gly962Glu) c.2903G>A (p.Gly968Glu) n.3276G>A n.3500G>A c.2072G>A (p.Gly691Glu) c.1847G>A (p.Gly616Glu) c.2942G>A (p.Gly981Glu) n.357G>A c.1022-1661G>A c.*238G>A (n.*238G>A) n.3881G>A n.2482G>A c.2993G>A (p.Gly998Glu) n.483G>A c.3041G>A (p.Gly1014Glu) c.3101G>A (p.Gly1034Glu) c.2651G>A (p.Gly884Glu) c.953G>A (p.Gly318Glu) c.877-1661G>A (n.877-1661G>A) c.3002G>A (p.Gly1001Glu) c.3061-1661G>A (n.3061-1661G>A) c.2723G>A (p.Gly908Glu) c.2731-1661G>A (n.2731-1661G>A) c.1805G>A (p.Gly602Glu) n.3356G>A | gnomAD v4 |
13 | g.51944216C>A | CA388030214 | ATP7B | c.*894-1662G>T (n.*894-1662G>T) c.*1880G>T (n.*1880G>T) c.2515G>T (p.Gly839Trp) c.3136G>T (p.Gly1046Trp) c.2803G>T (p.Gly935Trp) c.2884G>T (p.Gly962Trp) c.2902G>T (p.Gly968Trp) n.3275G>T n.3499G>T c.2071G>T (p.Gly691Trp) c.1846G>T (p.Gly616Trp) c.2941G>T (p.Gly981Trp) n.356G>T c.1022-1662G>T c.*237G>T (n.*237G>T) n.3880G>T n.2481G>T c.2992G>T (p.Gly998Trp) n.482G>T c.3040G>T (p.Gly1014Trp) c.3100G>T (p.Gly1034Trp) c.2650G>T (p.Gly884Trp) c.952G>T (p.Gly318Trp) c.877-1662G>T (n.877-1662G>T) c.3001G>T (p.Gly1001Trp) c.3061-1662G>T (n.3061-1662G>T) c.2722G>T (p.Gly908Trp) c.2731-1662G>T (n.2731-1662G>T) c.1804G>T (p.Gly602Trp) n.3355G>T | |
13 | g.51944216C>G | CA388030215 | ATP7B | c.*894-1662G>C (n.*894-1662G>C) c.*1880G>C (n.*1880G>C) c.2515G>C (p.Gly839Arg) c.3136G>C (p.Gly1046Arg) c.2803G>C (p.Gly935Arg) c.2884G>C (p.Gly962Arg) c.2902G>C (p.Gly968Arg) n.3275G>C n.3499G>C c.2071G>C (p.Gly691Arg) c.1846G>C (p.Gly616Arg) c.2941G>C (p.Gly981Arg) n.356G>C c.1022-1662G>C c.*237G>C (n.*237G>C) n.3880G>C n.2481G>C c.2992G>C (p.Gly998Arg) n.482G>C c.3040G>C (p.Gly1014Arg) c.3100G>C (p.Gly1034Arg) c.2650G>C (p.Gly884Arg) c.952G>C (p.Gly318Arg) c.877-1662G>C (n.877-1662G>C) c.3001G>C (p.Gly1001Arg) c.3061-1662G>C (n.3061-1662G>C) c.2722G>C (p.Gly908Arg) c.2731-1662G>C (n.2731-1662G>C) c.1804G>C (p.Gly602Arg) n.3355G>C | |
13 | g.51944216C>T | CA388030208 | ATP7B | c.*894-1662G>A (n.*894-1662G>A) c.*1880G>A (n.*1880G>A) c.2515G>A (p.Gly839Arg) c.3136G>A (p.Gly1046Arg) c.2803G>A (p.Gly935Arg) c.2884G>A (p.Gly962Arg) c.2902G>A (p.Gly968Arg) n.3275G>A n.3499G>A c.2071G>A (p.Gly691Arg) c.1846G>A (p.Gly616Arg) c.2941G>A (p.Gly981Arg) n.356G>A c.1022-1662G>A c.*237G>A (n.*237G>A) n.3880G>A n.2481G>A c.2992G>A (p.Gly998Arg) n.482G>A c.3040G>A (p.Gly1014Arg) c.3100G>A (p.Gly1034Arg) c.2650G>A (p.Gly884Arg) c.952G>A (p.Gly318Arg) c.877-1662G>A (n.877-1662G>A) c.3001G>A (p.Gly1001Arg) c.3061-1662G>A (n.3061-1662G>A) c.2722G>A (p.Gly908Arg) c.2731-1662G>A (n.2731-1662G>A) c.1804G>A (p.Gly602Arg) n.3355G>A | |
13 | g.51944217C>A | CA483894721 | ATP7B | c.*894-1663G>T (n.*894-1663G>T) c.*1879G>T (n.*1879G>T) c.2514G>T (p.Leu838=) c.3135G>T (p.Leu1045=) c.2802G>T (p.Leu934=) c.2883G>T (p.Leu961=) c.2901G>T (p.Leu967=) n.3274G>T n.3498G>T c.2070G>T (p.Leu690=) c.1845G>T (p.Leu615=) c.2940G>T (p.Leu980=) n.355G>T c.1022-1663G>T c.*236G>T (n.*236G>T) n.3879G>T n.2480G>T c.2991G>T (p.Leu997=) n.481G>T c.3039G>T (p.Leu1013=) c.3099G>T (p.Leu1033=) c.2649G>T (p.Leu883=) c.951G>T (p.Leu317=) c.877-1663G>T (n.877-1663G>T) c.3000G>T (p.Leu1000=) c.3061-1663G>T (n.3061-1663G>T) c.2721G>T (p.Leu907=) c.2731-1663G>T (n.2731-1663G>T) c.1803G>T (p.Leu601=) n.3354G>T | gnomAD v4 |
13 | g.51944217C>G | CA483894722 | ATP7B | c.*894-1663G>C (n.*894-1663G>C) c.*1879G>C (n.*1879G>C) c.2514G>C (p.Leu838=) c.3135G>C (p.Leu1045=) c.2802G>C (p.Leu934=) c.2883G>C (p.Leu961=) c.2901G>C (p.Leu967=) n.3274G>C n.3498G>C c.2070G>C (p.Leu690=) c.1845G>C (p.Leu615=) c.2940G>C (p.Leu980=) n.355G>C c.1022-1663G>C c.*236G>C (n.*236G>C) n.3879G>C n.2480G>C c.2991G>C (p.Leu997=) n.481G>C c.3039G>C (p.Leu1013=) c.3099G>C (p.Leu1033=) c.2649G>C (p.Leu883=) c.951G>C (p.Leu317=) c.877-1663G>C (n.877-1663G>C) c.3000G>C (p.Leu1000=) c.3061-1663G>C (n.3061-1663G>C) c.2721G>C (p.Leu907=) c.2731-1663G>C (n.2731-1663G>C) c.1803G>C (p.Leu601=) n.3354G>C | |
13 | g.51944217C>T | CA483894723 | ATP7B | c.*894-1663G>A (n.*894-1663G>A) c.*1879G>A (n.*1879G>A) c.2514G>A (p.Leu838=) c.3135G>A (p.Leu1045=) c.2802G>A (p.Leu934=) c.2883G>A (p.Leu961=) c.2901G>A (p.Leu967=) n.3274G>A n.3498G>A c.2070G>A (p.Leu690=) c.1845G>A (p.Leu615=) c.2940G>A (p.Leu980=) n.355G>A c.1022-1663G>A c.*236G>A (n.*236G>A) n.3879G>A n.2480G>A c.2991G>A (p.Leu997=) n.481G>A c.3039G>A (p.Leu1013=) c.3099G>A (p.Leu1033=) c.2649G>A (p.Leu883=) c.951G>A (p.Leu317=) c.877-1663G>A (n.877-1663G>A) c.3000G>A (p.Leu1000=) c.3061-1663G>A (n.3061-1663G>A) c.2721G>A (p.Leu907=) c.2731-1663G>A (n.2731-1663G>A) c.1803G>A (p.Leu601=) n.3354G>A | |
13 | g.51944218A>C | CA388030218 | ATP7B | c.*894-1664T>G (n.*894-1664T>G) c.*1878T>G (n.*1878T>G) c.2513T>G (p.Leu838Arg) c.3134T>G (p.Leu1045Arg) c.2801T>G (p.Leu934Arg) c.2882T>G (p.Leu961Arg) c.2900T>G (p.Leu967Arg) n.3273T>G n.3497T>G c.2069T>G (p.Leu690Arg) c.1844T>G (p.Leu615Arg) c.2939T>G (p.Leu980Arg) n.354T>G c.1022-1664T>G c.*235T>G (n.*235T>G) n.3878T>G n.2479T>G c.2990T>G (p.Leu997Arg) n.480T>G c.3038T>G (p.Leu1013Arg) c.3098T>G (p.Leu1033Arg) c.2648T>G (p.Leu883Arg) c.950T>G (p.Leu317Arg) c.877-1664T>G (n.877-1664T>G) c.2999T>G (p.Leu1000Arg) c.3061-1664T>G (n.3061-1664T>G) c.2720T>G (p.Leu907Arg) c.2731-1664T>G (n.2731-1664T>G) c.1802T>G (p.Leu601Arg) n.3353T>G | |
13 | g.51944218A>G | CA388030219 | ATP7B | c.*894-1664T>C (n.*894-1664T>C) c.*1878T>C (n.*1878T>C) c.2513T>C (p.Leu838Pro) c.3134T>C (p.Leu1045Pro) c.2801T>C (p.Leu934Pro) c.2882T>C (p.Leu961Pro) c.2900T>C (p.Leu967Pro) n.3273T>C n.3497T>C c.2069T>C (p.Leu690Pro) c.1844T>C (p.Leu615Pro) c.2939T>C (p.Leu980Pro) n.354T>C c.1022-1664T>C c.*235T>C (n.*235T>C) n.3878T>C n.2479T>C c.2990T>C (p.Leu997Pro) n.480T>C c.3038T>C (p.Leu1013Pro) c.3098T>C (p.Leu1033Pro) c.2648T>C (p.Leu883Pro) c.950T>C (p.Leu317Pro) c.877-1664T>C (n.877-1664T>C) c.2999T>C (p.Leu1000Pro) c.3061-1664T>C (n.3061-1664T>C) c.2720T>C (p.Leu907Pro) c.2731-1664T>C (n.2731-1664T>C) c.1802T>C (p.Leu601Pro) n.3353T>C | |
13 | g.51944218A>T | CA388030221 | ATP7B | c.*894-1664T>A (n.*894-1664T>A) c.*1878T>A (n.*1878T>A) c.2513T>A (p.Leu838Gln) c.3134T>A (p.Leu1045Gln) c.2801T>A (p.Leu934Gln) c.2882T>A (p.Leu961Gln) c.2900T>A (p.Leu967Gln) n.3273T>A n.3497T>A c.2069T>A (p.Leu690Gln) c.1844T>A (p.Leu615Gln) c.2939T>A (p.Leu980Gln) n.354T>A c.1022-1664T>A c.*235T>A (n.*235T>A) n.3878T>A n.2479T>A c.2990T>A (p.Leu997Gln) n.480T>A c.3038T>A (p.Leu1013Gln) c.3098T>A (p.Leu1033Gln) c.2648T>A (p.Leu883Gln) c.950T>A (p.Leu317Gln) c.877-1664T>A (n.877-1664T>A) c.2999T>A (p.Leu1000Gln) c.3061-1664T>A (n.3061-1664T>A) c.2720T>A (p.Leu907Gln) c.2731-1664T>A (n.2731-1664T>A) c.1802T>A (p.Leu601Gln) n.3353T>A | |
13 | g.51944219G>A | CA483894724 | ATP7B | c.*894-1665C>T (n.*894-1665C>T) c.*1877C>T (n.*1877C>T) c.2512C>T (p.Leu838=) c.3133C>T (p.Leu1045=) c.2800C>T (p.Leu934=) c.2881C>T (p.Leu961=) c.2899C>T (p.Leu967=) n.3272C>T n.3496C>T c.2068C>T (p.Leu690=) c.1843C>T (p.Leu615=) c.2938C>T (p.Leu980=) n.353C>T c.1022-1665C>T c.*234C>T (n.*234C>T) n.3877C>T n.2478C>T c.2989C>T (p.Leu997=) n.479C>T c.3037C>T (p.Leu1013=) c.3097C>T (p.Leu1033=) c.2647C>T (p.Leu883=) c.949C>T (p.Leu317=) c.877-1665C>T (n.877-1665C>T) c.2998C>T (p.Leu1000=) c.3061-1665C>T (n.3061-1665C>T) c.2719C>T (p.Leu907=) c.2731-1665C>T (n.2731-1665C>T) c.1801C>T (p.Leu601=) n.3352C>T | |
13 | g.51944219G>C | CA388030223 | ATP7B | c.*894-1665C>G (n.*894-1665C>G) c.*1877C>G (n.*1877C>G) c.2512C>G (p.Leu838Val) c.3133C>G (p.Leu1045Val) c.2800C>G (p.Leu934Val) c.2881C>G (p.Leu961Val) c.2899C>G (p.Leu967Val) n.3272C>G n.3496C>G c.2068C>G (p.Leu690Val) c.1843C>G (p.Leu615Val) c.2938C>G (p.Leu980Val) n.353C>G c.1022-1665C>G c.*234C>G (n.*234C>G) n.3877C>G n.2478C>G c.2989C>G (p.Leu997Val) n.479C>G c.3037C>G (p.Leu1013Val) c.3097C>G (p.Leu1033Val) c.2647C>G (p.Leu883Val) c.949C>G (p.Leu317Val) c.877-1665C>G (n.877-1665C>G) c.2998C>G (p.Leu1000Val) c.3061-1665C>G (n.3061-1665C>G) c.2719C>G (p.Leu907Val) c.2731-1665C>G (n.2731-1665C>G) c.1801C>G (p.Leu601Val) n.3352C>G | ClinVar gnomAD v4 |
13 | g.51944219G>T | CA388030225 | ATP7B | c.*894-1665C>A (n.*894-1665C>A) c.*1877C>A (n.*1877C>A) c.2512C>A (p.Leu838Met) c.3133C>A (p.Leu1045Met) c.2800C>A (p.Leu934Met) c.2881C>A (p.Leu961Met) c.2899C>A (p.Leu967Met) n.3272C>A n.3496C>A c.2068C>A (p.Leu690Met) c.1843C>A (p.Leu615Met) c.2938C>A (p.Leu980Met) n.353C>A c.1022-1665C>A c.*234C>A (n.*234C>A) n.3877C>A n.2478C>A c.2989C>A (p.Leu997Met) n.479C>A c.3037C>A (p.Leu1013Met) c.3097C>A (p.Leu1033Met) c.2647C>A (p.Leu883Met) c.949C>A (p.Leu317Met) c.877-1665C>A (n.877-1665C>A) c.2998C>A (p.Leu1000Met) c.3061-1665C>A (n.3061-1665C>A) c.2719C>A (p.Leu907Met) c.2731-1665C>A (n.2731-1665C>A) c.1801C>A (p.Leu601Met) n.3352C>A | |
13 | g.51944220C>A | CA483894725 | ATP7B | c.*894-1666G>T (n.*894-1666G>T) c.*1876G>T (n.*1876G>T) c.2511G>T (p.Leu837=) c.3132G>T (p.Leu1044=) c.2799G>T (p.Leu933=) c.2880G>T (p.Leu960=) c.2898G>T (p.Leu966=) n.3271G>T n.3495G>T c.2067G>T (p.Leu689=) c.1842G>T (p.Leu614=) c.2937G>T (p.Leu979=) n.352G>T c.1022-1666G>T c.*233G>T (n.*233G>T) n.3876G>T n.2477G>T c.2988G>T (p.Leu996=) n.478G>T c.3036G>T (p.Leu1012=) c.3096G>T (p.Leu1032=) c.2646G>T (p.Leu882=) c.948G>T (p.Leu316=) c.877-1666G>T (n.877-1666G>T) c.2997G>T (p.Leu999=) c.3061-1666G>T (n.3061-1666G>T) c.2718G>T (p.Leu906=) c.2731-1666G>T (n.2731-1666G>T) c.1800G>T (p.Leu600=) n.3351G>T | ClinVar dbSNP |
13 | g.51944220C= | CA2091564020 | ATP7B | c.*894-1666G= (n.*894-1666G=) c.*1876G= (n.*1876G=) c.2511G= (p.Leu837=) c.3132G= (p.Leu1044=) c.2799G= (p.Leu933=) c.2880G= (p.Leu960=) c.2898G= (p.Leu966=) n.3271G= n.3495G= c.2067G= (p.Leu689=) c.1842G= (p.Leu614=) c.2937G= (p.Leu979=) n.352G= c.1022-1666G= c.*233G= (n.*233G=) n.3876G= n.2477G= c.2988G= (p.Leu996=) n.478G= c.3036G= (p.Leu1012=) c.3096G= (p.Leu1032=) c.2646G= (p.Leu882=) c.948G= (p.Leu316=) c.877-1666G= (n.877-1666G=) c.2997G= (p.Leu999=) c.3061-1666G= (n.3061-1666G=) c.2718G= (p.Leu906=) c.2731-1666G= (n.2731-1666G=) c.1800G= (p.Leu600=) n.3351G= | |
13 | g.51944220C>G | CA483894726 | ATP7B | c.*894-1666G>C (n.*894-1666G>C) c.*1876G>C (n.*1876G>C) c.2511G>C (p.Leu837=) c.3132G>C (p.Leu1044=) c.2799G>C (p.Leu933=) c.2880G>C (p.Leu960=) c.2898G>C (p.Leu966=) n.3271G>C n.3495G>C c.2067G>C (p.Leu689=) c.1842G>C (p.Leu614=) c.2937G>C (p.Leu979=) n.352G>C c.1022-1666G>C c.*233G>C (n.*233G>C) n.3876G>C n.2477G>C c.2988G>C (p.Leu996=) n.478G>C c.3036G>C (p.Leu1012=) c.3096G>C (p.Leu1032=) c.2646G>C (p.Leu882=) c.948G>C (p.Leu316=) c.877-1666G>C (n.877-1666G>C) c.2997G>C (p.Leu999=) c.3061-1666G>C (n.3061-1666G>C) c.2718G>C (p.Leu906=) c.2731-1666G>C (n.2731-1666G>C) c.1800G>C (p.Leu600=) n.3351G>C | gnomAD v4 |
13 | g.51944220C>T | CA483894727 | ATP7B | c.*894-1666G>A (n.*894-1666G>A) c.*1876G>A (n.*1876G>A) c.2511G>A (p.Leu837=) c.3132G>A (p.Leu1044=) c.2799G>A (p.Leu933=) c.2880G>A (p.Leu960=) c.2898G>A (p.Leu966=) n.3271G>A n.3495G>A c.2067G>A (p.Leu689=) c.1842G>A (p.Leu614=) c.2937G>A (p.Leu979=) n.352G>A c.1022-1666G>A c.*233G>A (n.*233G>A) n.3876G>A n.2477G>A c.2988G>A (p.Leu996=) n.478G>A c.3036G>A (p.Leu1012=) c.3096G>A (p.Leu1032=) c.2646G>A (p.Leu882=) c.948G>A (p.Leu316=) c.877-1666G>A (n.877-1666G>A) c.2997G>A (p.Leu999=) c.3061-1666G>A (n.3061-1666G>A) c.2718G>A (p.Leu906=) c.2731-1666G>A (n.2731-1666G>A) c.1800G>A (p.Leu600=) n.3351G>A | gnomAD v4 |
13 | g.51944221A>C | CA388030227 | ATP7B | c.*894-1667T>G (n.*894-1667T>G) c.*1875T>G (n.*1875T>G) c.2510T>G (p.Leu837Arg) c.3131T>G (p.Leu1044Arg) c.2798T>G (p.Leu933Arg) c.2879T>G (p.Leu960Arg) c.2897T>G (p.Leu966Arg) n.3270T>G n.3494T>G c.2066T>G (p.Leu689Arg) c.1841T>G (p.Leu614Arg) c.2936T>G (p.Leu979Arg) n.351T>G c.1022-1667T>G c.*232T>G (n.*232T>G) n.3875T>G n.2476T>G c.2987T>G (p.Leu996Arg) n.477T>G c.3035T>G (p.Leu1012Arg) c.3095T>G (p.Leu1032Arg) c.2645T>G (p.Leu882Arg) c.947T>G (p.Leu316Arg) c.877-1667T>G (n.877-1667T>G) c.2996T>G (p.Leu999Arg) c.3061-1667T>G (n.3061-1667T>G) c.2717T>G (p.Leu906Arg) c.2731-1667T>G (n.2731-1667T>G) c.1799T>G (p.Leu600Arg) n.3350T>G | |
13 | g.51944221A>G | CA388030241 | ATP7B | c.*894-1667T>C (n.*894-1667T>C) c.*1875T>C (n.*1875T>C) c.2510T>C (p.Leu837Pro) c.3131T>C (p.Leu1044Pro) c.2798T>C (p.Leu933Pro) c.2879T>C (p.Leu960Pro) c.2897T>C (p.Leu966Pro) n.3270T>C n.3494T>C c.2066T>C (p.Leu689Pro) c.1841T>C (p.Leu614Pro) c.2936T>C (p.Leu979Pro) n.351T>C c.1022-1667T>C c.*232T>C (n.*232T>C) n.3875T>C n.2476T>C c.2987T>C (p.Leu996Pro) n.477T>C c.3035T>C (p.Leu1012Pro) c.3095T>C (p.Leu1032Pro) c.2645T>C (p.Leu882Pro) c.947T>C (p.Leu316Pro) c.877-1667T>C (n.877-1667T>C) c.2996T>C (p.Leu999Pro) c.3061-1667T>C (n.3061-1667T>C) c.2717T>C (p.Leu906Pro) c.2731-1667T>C (n.2731-1667T>C) c.1799T>C (p.Leu600Pro) n.3350T>C | |
13 | g.51944221A>T | CA388030244 | ATP7B | c.*894-1667T>A (n.*894-1667T>A) c.*1875T>A (n.*1875T>A) c.2510T>A (p.Leu837Gln) c.3131T>A (p.Leu1044Gln) c.2798T>A (p.Leu933Gln) c.2879T>A (p.Leu960Gln) c.2897T>A (p.Leu966Gln) n.3270T>A n.3494T>A c.2066T>A (p.Leu689Gln) c.1841T>A (p.Leu614Gln) c.2936T>A (p.Leu979Gln) n.351T>A c.1022-1667T>A c.*232T>A (n.*232T>A) n.3875T>A n.2476T>A c.2987T>A (p.Leu996Gln) n.477T>A c.3035T>A (p.Leu1012Gln) c.3095T>A (p.Leu1032Gln) c.2645T>A (p.Leu882Gln) c.947T>A (p.Leu316Gln) c.877-1667T>A (n.877-1667T>A) c.2996T>A (p.Leu999Gln) c.3061-1667T>A (n.3061-1667T>A) c.2717T>A (p.Leu906Gln) c.2731-1667T>A (n.2731-1667T>A) c.1799T>A (p.Leu600Gln) n.3350T>A | |
13 | g.51944222G>A | CA483894728 | ATP7B | c.*894-1668C>T (n.*894-1668C>T) c.*1874C>T (n.*1874C>T) c.2509C>T (p.Leu837=) c.3130C>T (p.Leu1044=) c.2797C>T (p.Leu933=) c.2878C>T (p.Leu960=) c.2896C>T (p.Leu966=) n.3269C>T n.3493C>T c.2065C>T (p.Leu689=) c.1840C>T (p.Leu614=) c.2935C>T (p.Leu979=) n.350C>T c.1022-1668C>T c.*231C>T (n.*231C>T) n.3874C>T n.2475C>T c.2986C>T (p.Leu996=) n.476C>T c.3034C>T (p.Leu1012=) c.3094C>T (p.Leu1032=) c.2644C>T (p.Leu882=) c.946C>T (p.Leu316=) c.877-1668C>T (n.877-1668C>T) c.2995C>T (p.Leu999=) c.3061-1668C>T (n.3061-1668C>T) c.2716C>T (p.Leu906=) c.2731-1668C>T (n.2731-1668C>T) c.1798C>T (p.Leu600=) n.3349C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944222G>C | CA388030248 | ATP7B | c.*894-1668C>G (n.*894-1668C>G) c.*1874C>G (n.*1874C>G) c.2509C>G (p.Leu837Val) c.3130C>G (p.Leu1044Val) c.2797C>G (p.Leu933Val) c.2878C>G (p.Leu960Val) c.2896C>G (p.Leu966Val) n.3269C>G n.3493C>G c.2065C>G (p.Leu689Val) c.1840C>G (p.Leu614Val) c.2935C>G (p.Leu979Val) n.350C>G c.1022-1668C>G c.*231C>G (n.*231C>G) n.3874C>G n.2475C>G c.2986C>G (p.Leu996Val) n.476C>G c.3034C>G (p.Leu1012Val) c.3094C>G (p.Leu1032Val) c.2644C>G (p.Leu882Val) c.946C>G (p.Leu316Val) c.877-1668C>G (n.877-1668C>G) c.2995C>G (p.Leu999Val) c.3061-1668C>G (n.3061-1668C>G) c.2716C>G (p.Leu906Val) c.2731-1668C>G (n.2731-1668C>G) c.1798C>G (p.Leu600Val) n.3349C>G | gnomAD v4 |
13 | g.51944222G= | CA2091564023 | ATP7B | c.*894-1668C= (n.*894-1668C=) c.*1874C= (n.*1874C=) c.2509C= (p.Leu837=) c.3130C= (p.Leu1044=) c.2797C= (p.Leu933=) c.2878C= (p.Leu960=) c.2896C= (p.Leu966=) n.3269C= n.3493C= c.2065C= (p.Leu689=) c.1840C= (p.Leu614=) c.2935C= (p.Leu979=) n.350C= c.1022-1668C= c.*231C= (n.*231C=) n.3874C= n.2475C= c.2986C= (p.Leu996=) n.476C= c.3034C= (p.Leu1012=) c.3094C= (p.Leu1032=) c.2644C= (p.Leu882=) c.946C= (p.Leu316=) c.877-1668C= (n.877-1668C=) c.2995C= (p.Leu999=) c.3061-1668C= (n.3061-1668C=) c.2716C= (p.Leu906=) c.2731-1668C= (n.2731-1668C=) c.1798C= (p.Leu600=) n.3349C= | |
13 | g.51944222G>T | CA388030249 | ATP7B | c.*894-1668C>A (n.*894-1668C>A) c.*1874C>A (n.*1874C>A) c.2509C>A (p.Leu837Met) c.3130C>A (p.Leu1044Met) c.2797C>A (p.Leu933Met) c.2878C>A (p.Leu960Met) c.2896C>A (p.Leu966Met) n.3269C>A n.3493C>A c.2065C>A (p.Leu689Met) c.1840C>A (p.Leu614Met) c.2935C>A (p.Leu979Met) n.350C>A c.1022-1668C>A c.*231C>A (n.*231C>A) n.3874C>A n.2475C>A c.2986C>A (p.Leu996Met) n.476C>A c.3034C>A (p.Leu1012Met) c.3094C>A (p.Leu1032Met) c.2644C>A (p.Leu882Met) c.946C>A (p.Leu316Met) c.877-1668C>A (n.877-1668C>A) c.2995C>A (p.Leu999Met) c.3061-1668C>A (n.3061-1668C>A) c.2716C>A (p.Leu906Met) c.2731-1668C>A (n.2731-1668C>A) c.1798C>A (p.Leu600Met) n.3349C>A | |
13 | g.51944223G>A | CA6988799 | ATP7B | c.*894-1669C>T (n.*894-1669C>T) c.*1873C>T (n.*1873C>T) c.2508C>T (p.Leu836=) c.3129C>T (p.Leu1043=) c.2796C>T (p.Leu932=) c.2877C>T (p.Leu959=) c.2895C>T (p.Leu965=) n.3268C>T n.3492C>T c.2064C>T (p.Leu688=) c.1839C>T (p.Leu613=) c.2934C>T (p.Leu978=) n.349C>T c.1022-1669C>T c.*230C>T (n.*230C>T) n.3873C>T n.2474C>T c.2985C>T (p.Leu995=) n.475C>T c.3033C>T (p.Leu1011=) c.3093C>T (p.Leu1031=) c.2643C>T (p.Leu881=) c.945C>T (p.Leu315=) c.877-1669C>T (n.877-1669C>T) c.2994C>T (p.Leu998=) c.3061-1669C>T (n.3061-1669C>T) c.2715C>T (p.Leu905=) c.2731-1669C>T (n.2731-1669C>T) c.1797C>T (p.Leu599=) n.3348C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944223G>C | CA6988800 | ATP7B | c.*894-1669C>G (n.*894-1669C>G) c.*1873C>G (n.*1873C>G) c.2508C>G (p.Leu836=) c.3129C>G (p.Leu1043=) c.2796C>G (p.Leu932=) c.2877C>G (p.Leu959=) c.2895C>G (p.Leu965=) n.3268C>G n.3492C>G c.2064C>G (p.Leu688=) c.1839C>G (p.Leu613=) c.2934C>G (p.Leu978=) n.349C>G c.1022-1669C>G c.*230C>G (n.*230C>G) n.3873C>G n.2474C>G c.2985C>G (p.Leu995=) n.475C>G c.3033C>G (p.Leu1011=) c.3093C>G (p.Leu1031=) c.2643C>G (p.Leu881=) c.945C>G (p.Leu315=) c.877-1669C>G (n.877-1669C>G) c.2994C>G (p.Leu998=) c.3061-1669C>G (n.3061-1669C>G) c.2715C>G (p.Leu905=) c.2731-1669C>G (n.2731-1669C>G) c.1797C>G (p.Leu599=) n.3348C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944223G= | CA2091564026 | ATP7B | c.*894-1669C= (n.*894-1669C=) c.*1873C= (n.*1873C=) c.2508C= (p.Leu836=) c.3129C= (p.Leu1043=) c.2796C= (p.Leu932=) c.2877C= (p.Leu959=) c.2895C= (p.Leu965=) n.3268C= n.3492C= c.2064C= (p.Leu688=) c.1839C= (p.Leu613=) c.2934C= (p.Leu978=) n.349C= c.1022-1669C= c.*230C= (n.*230C=) n.3873C= n.2474C= c.2985C= (p.Leu995=) n.475C= c.3033C= (p.Leu1011=) c.3093C= (p.Leu1031=) c.2643C= (p.Leu881=) c.945C= (p.Leu315=) c.877-1669C= (n.877-1669C=) c.2994C= (p.Leu998=) c.3061-1669C= (n.3061-1669C=) c.2715C= (p.Leu905=) c.2731-1669C= (n.2731-1669C=) c.1797C= (p.Leu599=) n.3348C= | |
13 | g.51944223G>T | CA483894729 | ATP7B | c.*894-1669C>A (n.*894-1669C>A) c.*1873C>A (n.*1873C>A) c.2508C>A (p.Leu836=) c.3129C>A (p.Leu1043=) c.2796C>A (p.Leu932=) c.2877C>A (p.Leu959=) c.2895C>A (p.Leu965=) n.3268C>A n.3492C>A c.2064C>A (p.Leu688=) c.1839C>A (p.Leu613=) c.2934C>A (p.Leu978=) n.349C>A c.1022-1669C>A c.*230C>A (n.*230C>A) n.3873C>A n.2474C>A c.2985C>A (p.Leu995=) n.475C>A c.3033C>A (p.Leu1011=) c.3093C>A (p.Leu1031=) c.2643C>A (p.Leu881=) c.945C>A (p.Leu315=) c.877-1669C>A (n.877-1669C>A) c.2994C>A (p.Leu998=) c.3061-1669C>A (n.3061-1669C>A) c.2715C>A (p.Leu905=) c.2731-1669C>A (n.2731-1669C>A) c.1797C>A (p.Leu599=) n.3348C>A | |
13 | g.51944224A= | CA2091564034 | ATP7B | c.*894-1670T= (n.*894-1670T=) c.*1872T= (n.*1872T=) c.2507T= (p.Leu836=) c.3128T= (p.Leu1043=) c.2795T= (p.Leu932=) c.2876T= (p.Leu959=) c.2894T= (p.Leu965=) n.3267T= n.3491T= c.2063T= (p.Leu688=) c.1838T= (p.Leu613=) c.2933T= (p.Leu978=) n.348T= c.1022-1670T= c.*229T= (n.*229T=) n.3872T= n.2473T= c.2984T= (p.Leu995=) n.474T= c.3032T= (p.Leu1011=) c.3092T= (p.Leu1031=) c.2642T= (p.Leu881=) c.944T= (p.Leu315=) c.877-1670T= (n.877-1670T=) c.2993T= (p.Leu998=) c.3061-1670T= (n.3061-1670T=) c.2714T= (p.Leu905=) c.2731-1670T= (n.2731-1670T=) c.1796T= (p.Leu599=) n.3347T= | |
13 | g.51944224A>C | CA388030262 | ATP7B | c.*894-1670T>G (n.*894-1670T>G) c.*1872T>G (n.*1872T>G) c.2507T>G (p.Leu836Arg) c.3128T>G (p.Leu1043Arg) c.2795T>G (p.Leu932Arg) c.2876T>G (p.Leu959Arg) c.2894T>G (p.Leu965Arg) n.3267T>G n.3491T>G c.2063T>G (p.Leu688Arg) c.1838T>G (p.Leu613Arg) c.2933T>G (p.Leu978Arg) n.348T>G c.1022-1670T>G c.*229T>G (n.*229T>G) n.3872T>G n.2473T>G c.2984T>G (p.Leu995Arg) n.474T>G c.3032T>G (p.Leu1011Arg) c.3092T>G (p.Leu1031Arg) c.2642T>G (p.Leu881Arg) c.944T>G (p.Leu315Arg) c.877-1670T>G (n.877-1670T>G) c.2993T>G (p.Leu998Arg) c.3061-1670T>G (n.3061-1670T>G) c.2714T>G (p.Leu905Arg) c.2731-1670T>G (n.2731-1670T>G) c.1796T>G (p.Leu599Arg) n.3347T>G | |
13 | g.51944224A>G | CA388030271 | ATP7B | c.*894-1670T>C (n.*894-1670T>C) c.*1872T>C (n.*1872T>C) c.2507T>C (p.Leu836Pro) c.3128T>C (p.Leu1043Pro) c.2795T>C (p.Leu932Pro) c.2876T>C (p.Leu959Pro) c.2894T>C (p.Leu965Pro) n.3267T>C n.3491T>C c.2063T>C (p.Leu688Pro) c.1838T>C (p.Leu613Pro) c.2933T>C (p.Leu978Pro) n.348T>C c.1022-1670T>C c.*229T>C (n.*229T>C) n.3872T>C n.2473T>C c.2984T>C (p.Leu995Pro) n.474T>C c.3032T>C (p.Leu1011Pro) c.3092T>C (p.Leu1031Pro) c.2642T>C (p.Leu881Pro) c.944T>C (p.Leu315Pro) c.877-1670T>C (n.877-1670T>C) c.2993T>C (p.Leu998Pro) c.3061-1670T>C (n.3061-1670T>C) c.2714T>C (p.Leu905Pro) c.2731-1670T>C (n.2731-1670T>C) c.1796T>C (p.Leu599Pro) n.3347T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.51944224A>T | CA388030260 | ATP7B | c.*894-1670T>A (n.*894-1670T>A) c.*1872T>A (n.*1872T>A) c.2507T>A (p.Leu836His) c.3128T>A (p.Leu1043His) c.2795T>A (p.Leu932His) c.2876T>A (p.Leu959His) c.2894T>A (p.Leu965His) n.3267T>A n.3491T>A c.2063T>A (p.Leu688His) c.1838T>A (p.Leu613His) c.2933T>A (p.Leu978His) n.348T>A c.1022-1670T>A c.*229T>A (n.*229T>A) n.3872T>A n.2473T>A c.2984T>A (p.Leu995His) n.474T>A c.3032T>A (p.Leu1011His) c.3092T>A (p.Leu1031His) c.2642T>A (p.Leu881His) c.944T>A (p.Leu315His) c.877-1670T>A (n.877-1670T>A) c.2993T>A (p.Leu998His) c.3061-1670T>A (n.3061-1670T>A) c.2714T>A (p.Leu905His) c.2731-1670T>A (n.2731-1670T>A) c.1796T>A (p.Leu599His) n.3347T>A | |
13 | g.51944225G>A | CA388030274 | ATP7B | c.*894-1671C>T (n.*894-1671C>T) c.*1871C>T (n.*1871C>T) c.2506C>T (p.Leu836Phe) c.3127C>T (p.Leu1043Phe) c.2794C>T (p.Leu932Phe) c.2875C>T (p.Leu959Phe) c.2893C>T (p.Leu965Phe) n.3266C>T n.3490C>T c.2062C>T (p.Leu688Phe) c.1837C>T (p.Leu613Phe) c.2932C>T (p.Leu978Phe) n.347C>T c.1022-1671C>T c.*228C>T (n.*228C>T) n.3871C>T n.2472C>T c.2983C>T (p.Leu995Phe) n.473C>T c.3031C>T (p.Leu1011Phe) c.3091C>T (p.Leu1031Phe) c.2641C>T (p.Leu881Phe) c.943C>T (p.Leu315Phe) c.877-1671C>T (n.877-1671C>T) c.2992C>T (p.Leu998Phe) c.3061-1671C>T (n.3061-1671C>T) c.2713C>T (p.Leu905Phe) c.2731-1671C>T (n.2731-1671C>T) c.1795C>T (p.Leu599Phe) n.3346C>T | |
13 | g.51944225G>C | CA388030276 | ATP7B | c.*894-1671C>G (n.*894-1671C>G) c.*1871C>G (n.*1871C>G) c.2506C>G (p.Leu836Val) c.3127C>G (p.Leu1043Val) c.2794C>G (p.Leu932Val) c.2875C>G (p.Leu959Val) c.2893C>G (p.Leu965Val) n.3266C>G n.3490C>G c.2062C>G (p.Leu688Val) c.1837C>G (p.Leu613Val) c.2932C>G (p.Leu978Val) n.347C>G c.1022-1671C>G c.*228C>G (n.*228C>G) n.3871C>G n.2472C>G c.2983C>G (p.Leu995Val) n.473C>G c.3031C>G (p.Leu1011Val) c.3091C>G (p.Leu1031Val) c.2641C>G (p.Leu881Val) c.943C>G (p.Leu315Val) c.877-1671C>G (n.877-1671C>G) c.2992C>G (p.Leu998Val) c.3061-1671C>G (n.3061-1671C>G) c.2713C>G (p.Leu905Val) c.2731-1671C>G (n.2731-1671C>G) c.1795C>G (p.Leu599Val) n.3346C>G | |
13 | g.51944225G>T | CA388030278 | ATP7B | c.*894-1671C>A (n.*894-1671C>A) c.*1871C>A (n.*1871C>A) c.2506C>A (p.Leu836Ile) c.3127C>A (p.Leu1043Ile) c.2794C>A (p.Leu932Ile) c.2875C>A (p.Leu959Ile) c.2893C>A (p.Leu965Ile) n.3266C>A n.3490C>A c.2062C>A (p.Leu688Ile) c.1837C>A (p.Leu613Ile) c.2932C>A (p.Leu978Ile) n.347C>A c.1022-1671C>A c.*228C>A (n.*228C>A) n.3871C>A n.2472C>A c.2983C>A (p.Leu995Ile) n.473C>A c.3031C>A (p.Leu1011Ile) c.3091C>A (p.Leu1031Ile) c.2641C>A (p.Leu881Ile) c.943C>A (p.Leu315Ile) c.877-1671C>A (n.877-1671C>A) c.2992C>A (p.Leu998Ile) c.3061-1671C>A (n.3061-1671C>A) c.2713C>A (p.Leu905Ile) c.2731-1671C>A (n.2731-1671C>A) c.1795C>A (p.Leu599Ile) n.3346C>A | |
13 | g.51944226C>A | CA483894730 | ATP7B | c.*894-1672G>T (n.*894-1672G>T) c.*1870G>T (n.*1870G>T) c.2505G>T (p.Val835=) c.3126G>T (p.Val1042=) c.2793G>T (p.Val931=) c.2874G>T (p.Val958=) c.2892G>T (p.Val964=) n.3265G>T n.3489G>T c.2061G>T (p.Val687=) c.1836G>T (p.Val612=) c.2931G>T (p.Val977=) n.346G>T c.1022-1672G>T c.*227G>T (n.*227G>T) n.3870G>T n.2471G>T c.2982G>T (p.Val994=) n.472G>T c.3030G>T (p.Val1010=) c.3090G>T (p.Val1030=) c.2640G>T (p.Val880=) c.942G>T (p.Val314=) c.877-1672G>T (n.877-1672G>T) c.2991G>T (p.Val997=) c.3061-1672G>T (n.3061-1672G>T) c.2712G>T (p.Val904=) c.2731-1672G>T (n.2731-1672G>T) c.1794G>T (p.Val598=) n.3345G>T | |
13 | g.51944226C>G | CA483894731 | ATP7B | c.*894-1672G>C (n.*894-1672G>C) c.*1870G>C (n.*1870G>C) c.2505G>C (p.Val835=) c.3126G>C (p.Val1042=) c.2793G>C (p.Val931=) c.2874G>C (p.Val958=) c.2892G>C (p.Val964=) n.3265G>C n.3489G>C c.2061G>C (p.Val687=) c.1836G>C (p.Val612=) c.2931G>C (p.Val977=) n.346G>C c.1022-1672G>C c.*227G>C (n.*227G>C) n.3870G>C n.2471G>C c.2982G>C (p.Val994=) n.472G>C c.3030G>C (p.Val1010=) c.3090G>C (p.Val1030=) c.2640G>C (p.Val880=) c.942G>C (p.Val314=) c.877-1672G>C (n.877-1672G>C) c.2991G>C (p.Val997=) c.3061-1672G>C (n.3061-1672G>C) c.2712G>C (p.Val904=) c.2731-1672G>C (n.2731-1672G>C) c.1794G>C (p.Val598=) n.3345G>C | |
13 | g.51944226C>T | CA483894732 | ATP7B | c.*894-1672G>A (n.*894-1672G>A) c.*1870G>A (n.*1870G>A) c.2505G>A (p.Val835=) c.3126G>A (p.Val1042=) c.2793G>A (p.Val931=) c.2874G>A (p.Val958=) c.2892G>A (p.Val964=) n.3265G>A n.3489G>A c.2061G>A (p.Val687=) c.1836G>A (p.Val612=) c.2931G>A (p.Val977=) n.346G>A c.1022-1672G>A c.*227G>A (n.*227G>A) n.3870G>A n.2471G>A c.2982G>A (p.Val994=) n.472G>A c.3030G>A (p.Val1010=) c.3090G>A (p.Val1030=) c.2640G>A (p.Val880=) c.942G>A (p.Val314=) c.877-1672G>A (n.877-1672G>A) c.2991G>A (p.Val997=) c.3061-1672G>A (n.3061-1672G>A) c.2712G>A (p.Val904=) c.2731-1672G>A (n.2731-1672G>A) c.1794G>A (p.Val598=) n.3345G>A | ClinVar |
13 | g.51944227A>C | CA388030280 | ATP7B | c.*894-1673T>G (n.*894-1673T>G) c.*1869T>G (n.*1869T>G) c.2504T>G (p.Val835Gly) c.3125T>G (p.Val1042Gly) c.2792T>G (p.Val931Gly) c.2873T>G (p.Val958Gly) c.2891T>G (p.Val964Gly) n.3264T>G n.3488T>G c.2060T>G (p.Val687Gly) c.1835T>G (p.Val612Gly) c.2930T>G (p.Val977Gly) n.345T>G c.1022-1673T>G c.*226T>G (n.*226T>G) n.3869T>G n.2470T>G c.2981T>G (p.Val994Gly) n.471T>G c.3029T>G (p.Val1010Gly) c.3089T>G (p.Val1030Gly) c.2639T>G (p.Val880Gly) c.941T>G (p.Val314Gly) c.877-1673T>G (n.877-1673T>G) c.2990T>G (p.Val997Gly) c.3061-1673T>G (n.3061-1673T>G) c.2711T>G (p.Val904Gly) c.2731-1673T>G (n.2731-1673T>G) c.1793T>G (p.Val598Gly) n.3344T>G | |
13 | g.51944227A>G | CA388030284 | ATP7B | c.*894-1673T>C (n.*894-1673T>C) c.*1869T>C (n.*1869T>C) c.2504T>C (p.Val835Ala) c.3125T>C (p.Val1042Ala) c.2792T>C (p.Val931Ala) c.2873T>C (p.Val958Ala) c.2891T>C (p.Val964Ala) n.3264T>C n.3488T>C c.2060T>C (p.Val687Ala) c.1835T>C (p.Val612Ala) c.2930T>C (p.Val977Ala) n.345T>C c.1022-1673T>C c.*226T>C (n.*226T>C) n.3869T>C n.2470T>C c.2981T>C (p.Val994Ala) n.471T>C c.3029T>C (p.Val1010Ala) c.3089T>C (p.Val1030Ala) c.2639T>C (p.Val880Ala) c.941T>C (p.Val314Ala) c.877-1673T>C (n.877-1673T>C) c.2990T>C (p.Val997Ala) c.3061-1673T>C (n.3061-1673T>C) c.2711T>C (p.Val904Ala) c.2731-1673T>C (n.2731-1673T>C) c.1793T>C (p.Val598Ala) n.3344T>C | |
13 | g.51944227A>T | CA388030287 | ATP7B | c.*894-1673T>A (n.*894-1673T>A) c.*1869T>A (n.*1869T>A) c.2504T>A (p.Val835Glu) c.3125T>A (p.Val1042Glu) c.2792T>A (p.Val931Glu) c.2873T>A (p.Val958Glu) c.2891T>A (p.Val964Glu) n.3264T>A n.3488T>A c.2060T>A (p.Val687Glu) c.1835T>A (p.Val612Glu) c.2930T>A (p.Val977Glu) n.345T>A c.1022-1673T>A c.*226T>A (n.*226T>A) n.3869T>A n.2470T>A c.2981T>A (p.Val994Glu) n.471T>A c.3029T>A (p.Val1010Glu) c.3089T>A (p.Val1030Glu) c.2639T>A (p.Val880Glu) c.941T>A (p.Val314Glu) c.877-1673T>A (n.877-1673T>A) c.2990T>A (p.Val997Glu) c.3061-1673T>A (n.3061-1673T>A) c.2711T>A (p.Val904Glu) c.2731-1673T>A (n.2731-1673T>A) c.1793T>A (p.Val598Glu) n.3344T>A | |
13 | g.51944228C>A | CA6988801 | ATP7B | c.*894-1674G>T (n.*894-1674G>T) c.*1868G>T (n.*1868G>T) c.2503G>T (p.Val835Leu) c.3124G>T (p.Val1042Leu) c.2791G>T (p.Val931Leu) c.2872G>T (p.Val958Leu) c.2890G>T (p.Val964Leu) n.3263G>T n.3487G>T c.2059G>T (p.Val687Leu) c.1834G>T (p.Val612Leu) c.2929G>T (p.Val977Leu) n.344G>T c.1022-1674G>T c.*225G>T (n.*225G>T) n.3868G>T n.2469G>T c.2980G>T (p.Val994Leu) n.470G>T c.3028G>T (p.Val1010Leu) c.3088G>T (p.Val1030Leu) c.2638G>T (p.Val880Leu) c.940G>T (p.Val314Leu) c.877-1674G>T (n.877-1674G>T) c.2989G>T (p.Val997Leu) c.3061-1674G>T (n.3061-1674G>T) c.2710G>T (p.Val904Leu) c.2731-1674G>T (n.2731-1674G>T) c.1792G>T (p.Val598Leu) n.3343G>T | dbSNP ExAC gnomAD v2 |
13 | g.51944228C= | CA2091564044 | ATP7B | c.*894-1674G= (n.*894-1674G=) c.*1868G= (n.*1868G=) c.2503G= (p.Val835=) c.3124G= (p.Val1042=) c.2791G= (p.Val931=) c.2872G= (p.Val958=) c.2890G= (p.Val964=) n.3263G= n.3487G= c.2059G= (p.Val687=) c.1834G= (p.Val612=) c.2929G= (p.Val977=) n.344G= c.1022-1674G= c.*225G= (n.*225G=) n.3868G= n.2469G= c.2980G= (p.Val994=) n.470G= c.3028G= (p.Val1010=) c.3088G= (p.Val1030=) c.2638G= (p.Val880=) c.940G= (p.Val314=) c.877-1674G= (n.877-1674G=) c.2989G= (p.Val997=) c.3061-1674G= (n.3061-1674G=) c.2710G= (p.Val904=) c.2731-1674G= (n.2731-1674G=) c.1792G= (p.Val598=) n.3343G= | |
13 | g.51944228C>G | CA388030299 | ATP7B | c.*894-1674G>C (n.*894-1674G>C) c.*1868G>C (n.*1868G>C) c.2503G>C (p.Val835Leu) c.3124G>C (p.Val1042Leu) c.2791G>C (p.Val931Leu) c.2872G>C (p.Val958Leu) c.2890G>C (p.Val964Leu) n.3263G>C n.3487G>C c.2059G>C (p.Val687Leu) c.1834G>C (p.Val612Leu) c.2929G>C (p.Val977Leu) n.344G>C c.1022-1674G>C c.*225G>C (n.*225G>C) n.3868G>C n.2469G>C c.2980G>C (p.Val994Leu) n.470G>C c.3028G>C (p.Val1010Leu) c.3088G>C (p.Val1030Leu) c.2638G>C (p.Val880Leu) c.940G>C (p.Val314Leu) c.877-1674G>C (n.877-1674G>C) c.2989G>C (p.Val997Leu) c.3061-1674G>C (n.3061-1674G>C) c.2710G>C (p.Val904Leu) c.2731-1674G>C (n.2731-1674G>C) c.1792G>C (p.Val598Leu) n.3343G>C | |
13 | g.51944228C>T | CA388030296 | ATP7B | c.*894-1674G>A (n.*894-1674G>A) c.*1868G>A (n.*1868G>A) c.2503G>A (p.Val835Met) c.3124G>A (p.Val1042Met) c.2791G>A (p.Val931Met) c.2872G>A (p.Val958Met) c.2890G>A (p.Val964Met) n.3263G>A n.3487G>A c.2059G>A (p.Val687Met) c.1834G>A (p.Val612Met) c.2929G>A (p.Val977Met) n.344G>A c.1022-1674G>A c.*225G>A (n.*225G>A) n.3868G>A n.2469G>A c.2980G>A (p.Val994Met) n.470G>A c.3028G>A (p.Val1010Met) c.3088G>A (p.Val1030Met) c.2638G>A (p.Val880Met) c.940G>A (p.Val314Met) c.877-1674G>A (n.877-1674G>A) c.2989G>A (p.Val997Met) c.3061-1674G>A (n.3061-1674G>A) c.2710G>A (p.Val904Met) c.2731-1674G>A (n.2731-1674G>A) c.1792G>A (p.Val598Met) n.3343G>A | |
13 | g.51944230dup | CA2739277656 | ATP7B | c.*894-1674dup (n.*894-1674dup) c.*1868dup (n.*1868dup) c.2503dup (p.Val835GlyfsTer27) c.3124dup (p.Val1042GlyfsTer27) c.2791dup (p.Val931GlyfsTer27) c.2872dup (p.Val958GlyfsTer27) c.2890dup (p.Val964GlyfsTer27) n.3263dup n.3487dup c.2059dup (p.Val687GlyfsTer27) c.1834dup (p.Val612GlyfsTer27) c.2929dup (p.Val977GlyfsTer27) n.344dup c.1022-1674dup c.*225dup (n.*225dup) n.3868dup n.2469dup c.2980dup (p.Val994GlyfsTer27) n.470dup c.3028dup (p.Val1010GlyfsTer27) c.3088dup (p.Val1030GlyfsTer27) c.2638dup (p.Val880GlyfsTer27) c.940dup (p.Val314GlyfsTer27) c.877-1674dup (n.877-1674dup) c.2989dup (p.Val997GlyfsTer27) c.3061-1674dup (n.3061-1674dup) c.2710dup (p.Val904GlyfsTer27) c.2731-1674dup (n.2731-1674dup) c.1792dup (p.Val598GlyfsTer27) n.3343dup | ClinVar |
13 | g.51944230del | CA2695218745 | ATP7B | c.*894-1674del (n.*894-1674del) c.*1868del (n.*1868del) c.2503del (p.Val835CysfsTer?) c.3124del (p.Val1042CysfsTer?) c.2791del (p.Val931CysfsTer?) c.2872del (p.Val958CysfsTer?) c.2890del (p.Val964CysfsTer?) n.3263del n.3487del c.2059del (p.Val687CysfsTer?) c.1834del (p.Val612CysfsTer?) c.2929del (p.Val977CysfsTer?) n.344del c.1022-1674del c.*225del (n.*225del) n.3868del n.2469del c.2980del (p.Val994CysfsTer?) n.470del c.3028del (p.Val1010CysfsTer?) c.3088del (p.Val1030CysfsTer?) c.2638del (p.Val880CysfsTer?) c.940del (p.Val314CysfsTer?) c.877-1674del (n.877-1674del) c.2989del (p.Val997CysfsTer?) c.3061-1674del (n.3061-1674del) c.2710del (p.Val904CysfsTer?) c.2731-1674del (n.2731-1674del) c.1792del (p.Val598CysfsTer?) n.3343del | |
13 | g.51944229C>A | CA483894733 | ATP7B | c.*894-1675G>T (n.*894-1675G>T) c.*1867G>T (n.*1867G>T) c.2502G>T (p.Arg834=) c.3123G>T (p.Arg1041=) c.2790G>T (p.Arg930=) c.2871G>T (p.Arg957=) c.2889G>T (p.Arg963=) n.3262G>T n.3486G>T c.2058G>T (p.Arg686=) c.1833G>T (p.Arg611=) c.2928G>T (p.Arg976=) n.343G>T c.1022-1675G>T c.*224G>T (n.*224G>T) n.3867G>T n.2468G>T c.2979G>T (p.Arg993=) n.469G>T c.3027G>T (p.Arg1009=) c.3087G>T (p.Arg1029=) c.2637G>T (p.Arg879=) c.939G>T (p.Arg313=) c.877-1675G>T (n.877-1675G>T) c.2988G>T (p.Arg996=) c.3061-1675G>T (n.3061-1675G>T) c.2709G>T (p.Arg903=) c.2731-1675G>T (n.2731-1675G>T) c.1791G>T (p.Arg597=) n.3342G>T | |
13 | g.51944229C= | CA2091564049 | ATP7B | c.*894-1675G= (n.*894-1675G=) c.*1867G= (n.*1867G=) c.2502G= (p.Arg834=) c.3123G= (p.Arg1041=) c.2790G= (p.Arg930=) c.2871G= (p.Arg957=) c.2889G= (p.Arg963=) n.3262G= n.3486G= c.2058G= (p.Arg686=) c.1833G= (p.Arg611=) c.2928G= (p.Arg976=) n.343G= c.1022-1675G= c.*224G= (n.*224G=) n.3867G= n.2468G= c.2979G= (p.Arg993=) n.469G= c.3027G= (p.Arg1009=) c.3087G= (p.Arg1029=) c.2637G= (p.Arg879=) c.939G= (p.Arg313=) c.877-1675G= (n.877-1675G=) c.2988G= (p.Arg996=) c.3061-1675G= (n.3061-1675G=) c.2709G= (p.Arg903=) c.2731-1675G= (n.2731-1675G=) c.1791G= (p.Arg597=) n.3342G= | |
13 | g.51944229C>G | CA483894735 | ATP7B | c.*894-1675G>C (n.*894-1675G>C) c.*1867G>C (n.*1867G>C) c.2502G>C (p.Arg834=) c.3123G>C (p.Arg1041=) c.2790G>C (p.Arg930=) c.2871G>C (p.Arg957=) c.2889G>C (p.Arg963=) n.3262G>C n.3486G>C c.2058G>C (p.Arg686=) c.1833G>C (p.Arg611=) c.2928G>C (p.Arg976=) n.343G>C c.1022-1675G>C c.*224G>C (n.*224G>C) n.3867G>C n.2468G>C c.2979G>C (p.Arg993=) n.469G>C c.3027G>C (p.Arg1009=) c.3087G>C (p.Arg1029=) c.2637G>C (p.Arg879=) c.939G>C (p.Arg313=) c.877-1675G>C (n.877-1675G>C) c.2988G>C (p.Arg996=) c.3061-1675G>C (n.3061-1675G>C) c.2709G>C (p.Arg903=) c.2731-1675G>C (n.2731-1675G>C) c.1791G>C (p.Arg597=) n.3342G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944229C>T | CA483894734 | ATP7B | c.*894-1675G>A (n.*894-1675G>A) c.*1867G>A (n.*1867G>A) c.2502G>A (p.Arg834=) c.3123G>A (p.Arg1041=) c.2790G>A (p.Arg930=) c.2871G>A (p.Arg957=) c.2889G>A (p.Arg963=) n.3262G>A n.3486G>A c.2058G>A (p.Arg686=) c.1833G>A (p.Arg611=) c.2928G>A (p.Arg976=) n.343G>A c.1022-1675G>A c.*224G>A (n.*224G>A) n.3867G>A n.2468G>A c.2979G>A (p.Arg993=) n.469G>A c.3027G>A (p.Arg1009=) c.3087G>A (p.Arg1029=) c.2637G>A (p.Arg879=) c.939G>A (p.Arg313=) c.877-1675G>A (n.877-1675G>A) c.2988G>A (p.Arg996=) c.3061-1675G>A (n.3061-1675G>A) c.2709G>A (p.Arg903=) c.2731-1675G>A (n.2731-1675G>A) c.1791G>A (p.Arg597=) n.3342G>A | |
13 | g.51944230C>A | CA388030302 | ATP7B | c.*894-1676G>T (n.*894-1676G>T) c.*1866G>T (n.*1866G>T) c.2501G>T (p.Arg834Leu) c.3122G>T (p.Arg1041Leu) c.2789G>T (p.Arg930Leu) c.2870G>T (p.Arg957Leu) c.2888G>T (p.Arg963Leu) n.3261G>T n.3485G>T c.2057G>T (p.Arg686Leu) c.1832G>T (p.Arg611Leu) c.2927G>T (p.Arg976Leu) n.342G>T c.1022-1676G>T c.*223G>T (n.*223G>T) n.3866G>T n.2467G>T c.2978G>T (p.Arg993Leu) n.468G>T c.3026G>T (p.Arg1009Leu) c.3086G>T (p.Arg1029Leu) c.2636G>T (p.Arg879Leu) c.938G>T (p.Arg313Leu) c.877-1676G>T (n.877-1676G>T) c.2987G>T (p.Arg996Leu) c.3061-1676G>T (n.3061-1676G>T) c.2708G>T (p.Arg903Leu) c.2731-1676G>T (n.2731-1676G>T) c.1790G>T (p.Arg597Leu) n.3341G>T | ClinVar |
13 | g.51944230C>G | CA388030304 | ATP7B | c.*894-1676G>C (n.*894-1676G>C) c.*1866G>C (n.*1866G>C) c.2501G>C (p.Arg834Pro) c.3122G>C (p.Arg1041Pro) c.2789G>C (p.Arg930Pro) c.2870G>C (p.Arg957Pro) c.2888G>C (p.Arg963Pro) n.3261G>C n.3485G>C c.2057G>C (p.Arg686Pro) c.1832G>C (p.Arg611Pro) c.2927G>C (p.Arg976Pro) n.342G>C c.1022-1676G>C c.*223G>C (n.*223G>C) n.3866G>C n.2467G>C c.2978G>C (p.Arg993Pro) n.468G>C c.3026G>C (p.Arg1009Pro) c.3086G>C (p.Arg1029Pro) c.2636G>C (p.Arg879Pro) c.938G>C (p.Arg313Pro) c.877-1676G>C (n.877-1676G>C) c.2987G>C (p.Arg996Pro) c.3061-1676G>C (n.3061-1676G>C) c.2708G>C (p.Arg903Pro) c.2731-1676G>C (n.2731-1676G>C) c.1790G>C (p.Arg597Pro) n.3341G>C | ClinVar |
13 | g.51944230C>T | CA388030306 | ATP7B | c.*894-1676G>A (n.*894-1676G>A) c.*1866G>A (n.*1866G>A) c.2501G>A (p.Arg834Gln) c.3122G>A (p.Arg1041Gln) c.2789G>A (p.Arg930Gln) c.2870G>A (p.Arg957Gln) c.2888G>A (p.Arg963Gln) n.3261G>A n.3485G>A c.2057G>A (p.Arg686Gln) c.1832G>A (p.Arg611Gln) c.2927G>A (p.Arg976Gln) n.342G>A c.1022-1676G>A c.*223G>A (n.*223G>A) n.3866G>A n.2467G>A c.2978G>A (p.Arg993Gln) n.468G>A c.3026G>A (p.Arg1009Gln) c.3086G>A (p.Arg1029Gln) c.2636G>A (p.Arg879Gln) c.938G>A (p.Arg313Gln) c.877-1676G>A (n.877-1676G>A) c.2987G>A (p.Arg996Gln) c.3061-1676G>A (n.3061-1676G>A) c.2708G>A (p.Arg903Gln) c.2731-1676G>A (n.2731-1676G>A) c.1790G>A (p.Arg597Gln) n.3341G>A | ClinVar gnomAD v4 |
13 | g.51944231G>A | CA6988802 | ATP7B | c.*894-1677C>T (n.*894-1677C>T) c.*1865C>T (n.*1865C>T) c.2500C>T (p.Arg834Trp) c.3121C>T (p.Arg1041Trp) c.2788C>T (p.Arg930Trp) c.2869C>T (p.Arg957Trp) c.2887C>T (p.Arg963Trp) n.3260C>T n.3484C>T c.2056C>T (p.Arg686Trp) c.1831C>T (p.Arg611Trp) c.2926C>T (p.Arg976Trp) n.341C>T c.1022-1677C>T c.*222C>T (n.*222C>T) n.3865C>T n.2466C>T c.2977C>T (p.Arg993Trp) n.467C>T c.3025C>T (p.Arg1009Trp) c.3085C>T (p.Arg1029Trp) c.2635C>T (p.Arg879Trp) c.937C>T (p.Arg313Trp) c.877-1677C>T (n.877-1677C>T) c.2986C>T (p.Arg996Trp) c.3061-1677C>T (n.3061-1677C>T) c.2707C>T (p.Arg903Trp) c.2731-1677C>T (n.2731-1677C>T) c.1789C>T (p.Arg597Trp) n.3340C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944231G>C | CA6988803 | ATP7B | c.*894-1677C>G (n.*894-1677C>G) c.*1865C>G (n.*1865C>G) c.2500C>G (p.Arg834Gly) c.3121C>G (p.Arg1041Gly) c.2788C>G (p.Arg930Gly) c.2869C>G (p.Arg957Gly) c.2887C>G (p.Arg963Gly) n.3260C>G n.3484C>G c.2056C>G (p.Arg686Gly) c.1831C>G (p.Arg611Gly) c.2926C>G (p.Arg976Gly) n.341C>G c.1022-1677C>G c.*222C>G (n.*222C>G) n.3865C>G n.2466C>G c.2977C>G (p.Arg993Gly) n.467C>G c.3025C>G (p.Arg1009Gly) c.3085C>G (p.Arg1029Gly) c.2635C>G (p.Arg879Gly) c.937C>G (p.Arg313Gly) c.877-1677C>G (n.877-1677C>G) c.2986C>G (p.Arg996Gly) c.3061-1677C>G (n.3061-1677C>G) c.2707C>G (p.Arg903Gly) c.2731-1677C>G (n.2731-1677C>G) c.1789C>G (p.Arg597Gly) n.3340C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944231G= | CA2091564053 | ATP7B | c.*894-1677C= (n.*894-1677C=) c.*1865C= (n.*1865C=) c.2500C= (p.Arg834=) c.3121C= (p.Arg1041=) c.2788C= (p.Arg930=) c.2869C= (p.Arg957=) c.2887C= (p.Arg963=) n.3260C= n.3484C= c.2056C= (p.Arg686=) c.1831C= (p.Arg611=) c.2926C= (p.Arg976=) n.341C= c.1022-1677C= c.*222C= (n.*222C=) n.3865C= n.2466C= c.2977C= (p.Arg993=) n.467C= c.3025C= (p.Arg1009=) c.3085C= (p.Arg1029=) c.2635C= (p.Arg879=) c.937C= (p.Arg313=) c.877-1677C= (n.877-1677C=) c.2986C= (p.Arg996=) c.3061-1677C= (n.3061-1677C=) c.2707C= (p.Arg903=) c.2731-1677C= (n.2731-1677C=) c.1789C= (p.Arg597=) n.3340C= | |
13 | g.51944231G>T | CA483894736 | ATP7B | c.*894-1677C>A (n.*894-1677C>A) c.*1865C>A (n.*1865C>A) c.2500C>A (p.Arg834=) c.3121C>A (p.Arg1041=) c.2788C>A (p.Arg930=) c.2869C>A (p.Arg957=) c.2887C>A (p.Arg963=) n.3260C>A n.3484C>A c.2056C>A (p.Arg686=) c.1831C>A (p.Arg611=) c.2926C>A (p.Arg976=) n.341C>A c.1022-1677C>A c.*222C>A (n.*222C>A) n.3865C>A n.2466C>A c.2977C>A (p.Arg993=) n.467C>A c.3025C>A (p.Arg1009=) c.3085C>A (p.Arg1029=) c.2635C>A (p.Arg879=) c.937C>A (p.Arg313=) c.877-1677C>A (n.877-1677C>A) c.2986C>A (p.Arg996=) c.3061-1677C>A (n.3061-1677C>A) c.2707C>A (p.Arg903=) c.2731-1677C>A (n.2731-1677C>A) c.1789C>A (p.Arg597=) n.3340C>A | gnomAD v4 |
13 | g.51944232C>A | CA388030315 | ATP7B | c.*894-1678G>T (n.*894-1678G>T) c.*1864G>T (n.*1864G>T) c.2499G>T (p.Met833Ile) c.3120G>T (p.Met1040Ile) c.2787G>T (p.Met929Ile) c.2868G>T (p.Met956Ile) c.2886G>T (p.Met962Ile) n.3259G>T n.3483G>T c.2055G>T (p.Met685Ile) c.1830G>T (p.Met610Ile) c.2925G>T (p.Met975Ile) n.340G>T c.1022-1678G>T c.*221G>T (n.*221G>T) n.3864G>T n.2465G>T c.2976G>T (p.Met992Ile) n.466G>T c.3024G>T (p.Met1008Ile) c.3084G>T (p.Met1028Ile) c.2634G>T (p.Met878Ile) c.936G>T (p.Met312Ile) c.877-1678G>T (n.877-1678G>T) c.2985G>T (p.Met995Ile) c.3061-1678G>T (n.3061-1678G>T) c.2706G>T (p.Met902Ile) c.2731-1678G>T (n.2731-1678G>T) c.1788G>T (p.Met596Ile) n.3339G>T | |
13 | g.51944232C>G | CA388030321 | ATP7B | c.*894-1678G>C (n.*894-1678G>C) c.*1864G>C (n.*1864G>C) c.2499G>C (p.Met833Ile) c.3120G>C (p.Met1040Ile) c.2787G>C (p.Met929Ile) c.2868G>C (p.Met956Ile) c.2886G>C (p.Met962Ile) n.3259G>C n.3483G>C c.2055G>C (p.Met685Ile) c.1830G>C (p.Met610Ile) c.2925G>C (p.Met975Ile) n.340G>C c.1022-1678G>C c.*221G>C (n.*221G>C) n.3864G>C n.2465G>C c.2976G>C (p.Met992Ile) n.466G>C c.3024G>C (p.Met1008Ile) c.3084G>C (p.Met1028Ile) c.2634G>C (p.Met878Ile) c.936G>C (p.Met312Ile) c.877-1678G>C (n.877-1678G>C) c.2985G>C (p.Met995Ile) c.3061-1678G>C (n.3061-1678G>C) c.2706G>C (p.Met902Ile) c.2731-1678G>C (n.2731-1678G>C) c.1788G>C (p.Met596Ile) n.3339G>C | |
13 | g.51944232C>T | CA388030310 | ATP7B | c.*894-1678G>A (n.*894-1678G>A) c.*1864G>A (n.*1864G>A) c.2499G>A (p.Met833Ile) c.3120G>A (p.Met1040Ile) c.2787G>A (p.Met929Ile) c.2868G>A (p.Met956Ile) c.2886G>A (p.Met962Ile) n.3259G>A n.3483G>A c.2055G>A (p.Met685Ile) c.1830G>A (p.Met610Ile) c.2925G>A (p.Met975Ile) n.340G>A c.1022-1678G>A c.*221G>A (n.*221G>A) n.3864G>A n.2465G>A c.2976G>A (p.Met992Ile) n.466G>A c.3024G>A (p.Met1008Ile) c.3084G>A (p.Met1028Ile) c.2634G>A (p.Met878Ile) c.936G>A (p.Met312Ile) c.877-1678G>A (n.877-1678G>A) c.2985G>A (p.Met995Ile) c.3061-1678G>A (n.3061-1678G>A) c.2706G>A (p.Met902Ile) c.2731-1678G>A (n.2731-1678G>A) c.1788G>A (p.Met596Ile) n.3339G>A | |
13 | g.51944233A>C | CA388030328 | ATP7B | c.*894-1679T>G (n.*894-1679T>G) c.*1863T>G (n.*1863T>G) c.2498T>G (p.Met833Arg) c.3119T>G (p.Met1040Arg) c.2786T>G (p.Met929Arg) c.2867T>G (p.Met956Arg) c.2885T>G (p.Met962Arg) n.3258T>G n.3482T>G c.2054T>G (p.Met685Arg) c.1829T>G (p.Met610Arg) c.2924T>G (p.Met975Arg) n.339T>G c.1022-1679T>G c.*220T>G (n.*220T>G) n.3863T>G n.2464T>G c.2975T>G (p.Met992Arg) n.465T>G c.3023T>G (p.Met1008Arg) c.3083T>G (p.Met1028Arg) c.2633T>G (p.Met878Arg) c.935T>G (p.Met312Arg) c.877-1679T>G (n.877-1679T>G) c.2984T>G (p.Met995Arg) c.3061-1679T>G (n.3061-1679T>G) c.2705T>G (p.Met902Arg) c.2731-1679T>G (n.2731-1679T>G) c.1787T>G (p.Met596Arg) n.3338T>G | |
13 | g.51944233A>G | CA388030324 | ATP7B | c.*894-1679T>C (n.*894-1679T>C) c.*1863T>C (n.*1863T>C) c.2498T>C (p.Met833Thr) c.3119T>C (p.Met1040Thr) c.2786T>C (p.Met929Thr) c.2867T>C (p.Met956Thr) c.2885T>C (p.Met962Thr) n.3258T>C n.3482T>C c.2054T>C (p.Met685Thr) c.1829T>C (p.Met610Thr) c.2924T>C (p.Met975Thr) n.339T>C c.1022-1679T>C c.*220T>C (n.*220T>C) n.3863T>C n.2464T>C c.2975T>C (p.Met992Thr) n.465T>C c.3023T>C (p.Met1008Thr) c.3083T>C (p.Met1028Thr) c.2633T>C (p.Met878Thr) c.935T>C (p.Met312Thr) c.877-1679T>C (n.877-1679T>C) c.2984T>C (p.Met995Thr) c.3061-1679T>C (n.3061-1679T>C) c.2705T>C (p.Met902Thr) c.2731-1679T>C (n.2731-1679T>C) c.1787T>C (p.Met596Thr) n.3338T>C | |
13 | g.51944233A>T | CA388030331 | ATP7B | c.*894-1679T>A (n.*894-1679T>A) c.*1863T>A (n.*1863T>A) c.2498T>A (p.Met833Lys) c.3119T>A (p.Met1040Lys) c.2786T>A (p.Met929Lys) c.2867T>A (p.Met956Lys) c.2885T>A (p.Met962Lys) n.3258T>A n.3482T>A c.2054T>A (p.Met685Lys) c.1829T>A (p.Met610Lys) c.2924T>A (p.Met975Lys) n.339T>A c.1022-1679T>A c.*220T>A (n.*220T>A) n.3863T>A n.2464T>A c.2975T>A (p.Met992Lys) n.465T>A c.3023T>A (p.Met1008Lys) c.3083T>A (p.Met1028Lys) c.2633T>A (p.Met878Lys) c.935T>A (p.Met312Lys) c.877-1679T>A (n.877-1679T>A) c.2984T>A (p.Met995Lys) c.3061-1679T>A (n.3061-1679T>A) c.2705T>A (p.Met902Lys) c.2731-1679T>A (n.2731-1679T>A) c.1787T>A (p.Met596Lys) n.3338T>A | |
13 | g.51944234T>A | CA388030333 | ATP7B | c.*894-1680A>T (n.*894-1680A>T) c.*1862A>T (n.*1862A>T) c.2497A>T (p.Met833Leu) c.3118A>T (p.Met1040Leu) c.2785A>T (p.Met929Leu) c.2866A>T (p.Met956Leu) c.2884A>T (p.Met962Leu) n.3257A>T n.3481A>T c.2053A>T (p.Met685Leu) c.1828A>T (p.Met610Leu) c.2923A>T (p.Met975Leu) n.338A>T c.1022-1680A>T c.*219A>T (n.*219A>T) n.3862A>T n.2463A>T c.2974A>T (p.Met992Leu) n.464A>T c.3022A>T (p.Met1008Leu) c.3082A>T (p.Met1028Leu) c.2632A>T (p.Met878Leu) c.934A>T (p.Met312Leu) c.877-1680A>T (n.877-1680A>T) c.2983A>T (p.Met995Leu) c.3061-1680A>T (n.3061-1680A>T) c.2704A>T (p.Met902Leu) c.2731-1680A>T (n.2731-1680A>T) c.1786A>T (p.Met596Leu) n.3337A>T | ClinVar |
13 | g.51944234T>C | CA388030336 | ATP7B | c.*894-1680A>G (n.*894-1680A>G) c.*1862A>G (n.*1862A>G) c.2497A>G (p.Met833Val) c.3118A>G (p.Met1040Val) c.2785A>G (p.Met929Val) c.2866A>G (p.Met956Val) c.2884A>G (p.Met962Val) n.3257A>G n.3481A>G c.2053A>G (p.Met685Val) c.1828A>G (p.Met610Val) c.2923A>G (p.Met975Val) n.338A>G c.1022-1680A>G c.*219A>G (n.*219A>G) n.3862A>G n.2463A>G c.2974A>G (p.Met992Val) n.464A>G c.3022A>G (p.Met1008Val) c.3082A>G (p.Met1028Val) c.2632A>G (p.Met878Val) c.934A>G (p.Met312Val) c.877-1680A>G (n.877-1680A>G) c.2983A>G (p.Met995Val) c.3061-1680A>G (n.3061-1680A>G) c.2704A>G (p.Met902Val) c.2731-1680A>G (n.2731-1680A>G) c.1786A>G (p.Met596Val) n.3337A>G | gnomAD v4 |
13 | g.51944234T>G | CA388030341 | ATP7B | c.*894-1680A>C (n.*894-1680A>C) c.*1862A>C (n.*1862A>C) c.2497A>C (p.Met833Leu) c.3118A>C (p.Met1040Leu) c.2785A>C (p.Met929Leu) c.2866A>C (p.Met956Leu) c.2884A>C (p.Met962Leu) n.3257A>C n.3481A>C c.2053A>C (p.Met685Leu) c.1828A>C (p.Met610Leu) c.2923A>C (p.Met975Leu) n.338A>C c.1022-1680A>C c.*219A>C (n.*219A>C) n.3862A>C n.2463A>C c.2974A>C (p.Met992Leu) n.464A>C c.3022A>C (p.Met1008Leu) c.3082A>C (p.Met1028Leu) c.2632A>C (p.Met878Leu) c.934A>C (p.Met312Leu) c.877-1680A>C (n.877-1680A>C) c.2983A>C (p.Met995Leu) c.3061-1680A>C (n.3061-1680A>C) c.2704A>C (p.Met902Leu) c.2731-1680A>C (n.2731-1680A>C) c.1786A>C (p.Met596Leu) n.3337A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.51944234T= | CA2091564062 | ATP7B | c.*894-1680A= (n.*894-1680A=) c.*1862A= (n.*1862A=) c.2497A= (p.Met833=) c.3118A= (p.Met1040=) c.2785A= (p.Met929=) c.2866A= (p.Met956=) c.2884A= (p.Met962=) n.3257A= n.3481A= c.2053A= (p.Met685=) c.1828A= (p.Met610=) c.2923A= (p.Met975=) n.338A= c.1022-1680A= c.*219A= (n.*219A=) n.3862A= n.2463A= c.2974A= (p.Met992=) n.464A= c.3022A= (p.Met1008=) c.3082A= (p.Met1028=) c.2632A= (p.Met878=) c.934A= (p.Met312=) c.877-1680A= (n.877-1680A=) c.2983A= (p.Met995=) c.3061-1680A= (n.3061-1680A=) c.2704A= (p.Met902=) c.2731-1680A= (n.2731-1680A=) c.1786A= (p.Met596=) n.3337A= | |
13 | g.51944234_51944243delinsTGACCCTGGG | CA2091564059 | ATP7B | c.*894-1689_*894-1680delinsCCCAGGGTCA (n.*894-1689_*894-1680delinsCCCAGGGTCA) c.*1853_*1862delinsCCCAGGGTCA (n.*1853_*1862delinsCCCAGGGTCA) c.2488_2497delinsCCCAGGGTCA (p.Pro830=) c.3109_3118delinsCCCAGGGTCA (p.Pro1037=) c.2776_2785delinsCCCAGGGTCA (p.Pro926=) c.2857_2866delinsCCCAGGGTCA (p.Pro953=) c.2875_2884delinsCCCAGGGTCA (p.Pro959=) n.3248_3257delinsCCCAGGGTCA n.3472_3481delinsCCCAGGGTCA c.2044_2053delinsCCCAGGGTCA (p.Pro682=) c.1819_1828delinsCCCAGGGTCA (p.Pro607=) c.2914_2923delinsCCCAGGGTCA (p.Pro972=) n.329_338delinsCCCAGGGTCA c.1022-1689_1022-1680delinsCCCAGGGTCA c.*210_*219delinsCCCAGGGTCA (n.*210_*219delinsCCCAGGGTCA) n.3853_3862delinsCCCAGGGTCA n.2454_2463delinsCCCAGGGTCA c.2965_2974delinsCCCAGGGTCA (p.Pro989=) n.455_464delinsCCCAGGGTCA c.3013_3022delinsCCCAGGGTCA (p.Pro1005=) c.3073_3082delinsCCCAGGGTCA (p.Pro1025=) c.2623_2632delinsCCCAGGGTCA (p.Pro875=) c.925_934delinsCCCAGGGTCA (p.Pro309=) c.877-1689_877-1680delinsCCCAGGGTCA (n.877-1689_877-1680delinsCCCAGGGTCA) c.2974_2983delinsCCCAGGGTCA (p.Pro992=) c.3061-1689_3061-1680delinsCCCAGGGTCA (n.3061-1689_3061-1680delinsCCCAGGGTCA) c.2695_2704delinsCCCAGGGTCA (p.Pro899=) c.2731-1689_2731-1680delinsCCCAGGGTCA (n.2731-1689_2731-1680delinsCCCAGGGTCA) c.1777_1786delinsCCCAGGGTCA (p.Pro593=) n.3328_3337delinsCCCAGGGTCA | |
13 | g.51944235G>A | CA483894737 | ATP7B | c.*894-1681C>T (n.*894-1681C>T) c.*1861C>T (n.*1861C>T) c.2496C>T (p.Val832=) c.3117C>T (p.Val1039=) c.2784C>T (p.Val928=) c.2865C>T (p.Val955=) c.2883C>T (p.Val961=) n.3256C>T n.3480C>T c.2052C>T (p.Val684=) c.1827C>T (p.Val609=) c.2922C>T (p.Val974=) n.337C>T c.1022-1681C>T c.*218C>T (n.*218C>T) n.3861C>T n.2462C>T c.2973C>T (p.Val991=) n.463C>T c.3021C>T (p.Val1007=) c.3081C>T (p.Val1027=) c.2631C>T (p.Val877=) c.933C>T (p.Val311=) c.877-1681C>T (n.877-1681C>T) c.2982C>T (p.Val994=) c.3061-1681C>T (n.3061-1681C>T) c.2703C>T (p.Val901=) c.2731-1681C>T (n.2731-1681C>T) c.1785C>T (p.Val595=) n.3336C>T | ClinVar dbSNP |
13 | g.51944235G>C | CA483894738 | ATP7B | c.*894-1681C>G (n.*894-1681C>G) c.*1861C>G (n.*1861C>G) c.2496C>G (p.Val832=) c.3117C>G (p.Val1039=) c.2784C>G (p.Val928=) c.2865C>G (p.Val955=) c.2883C>G (p.Val961=) n.3256C>G n.3480C>G c.2052C>G (p.Val684=) c.1827C>G (p.Val609=) c.2922C>G (p.Val974=) n.337C>G c.1022-1681C>G c.*218C>G (n.*218C>G) n.3861C>G n.2462C>G c.2973C>G (p.Val991=) n.463C>G c.3021C>G (p.Val1007=) c.3081C>G (p.Val1027=) c.2631C>G (p.Val877=) c.933C>G (p.Val311=) c.877-1681C>G (n.877-1681C>G) c.2982C>G (p.Val994=) c.3061-1681C>G (n.3061-1681C>G) c.2703C>G (p.Val901=) c.2731-1681C>G (n.2731-1681C>G) c.1785C>G (p.Val595=) n.3336C>G | |
13 | g.51944235G>T | CA483894739 | ATP7B | c.*894-1681C>A (n.*894-1681C>A) c.*1861C>A (n.*1861C>A) c.2496C>A (p.Val832=) c.3117C>A (p.Val1039=) c.2784C>A (p.Val928=) c.2865C>A (p.Val955=) c.2883C>A (p.Val961=) n.3256C>A n.3480C>A c.2052C>A (p.Val684=) c.1827C>A (p.Val609=) c.2922C>A (p.Val974=) n.337C>A c.1022-1681C>A c.*218C>A (n.*218C>A) n.3861C>A n.2462C>A c.2973C>A (p.Val991=) n.463C>A c.3021C>A (p.Val1007=) c.3081C>A (p.Val1027=) c.2631C>A (p.Val877=) c.933C>A (p.Val311=) c.877-1681C>A (n.877-1681C>A) c.2982C>A (p.Val994=) c.3061-1681C>A (n.3061-1681C>A) c.2703C>A (p.Val901=) c.2731-1681C>A (n.2731-1681C>A) c.1785C>A (p.Val595=) n.3336C>A | COSMIC |
13 | g.51944238_51944246del | CA610425797 | ATP7B | c.*894-1689_*894-1681del (n.*894-1689_*894-1681del) c.*1853_*1861del (n.*1853_*1861del) c.2488_2496del (p.Pro830_Val832del) c.3109_3117del (p.Pro1037_Val1039del) c.2776_2784del (p.Pro926_Val928del) c.2857_2865del (p.Pro953_Val955del) c.2875_2883del (p.Pro959_Val961del) n.3248_3256del n.3472_3480del c.2044_2052del (p.Pro682_Val684del) c.1819_1827del (p.Pro607_Val609del) c.2914_2922del (p.Pro972_Val974del) n.329_337del c.1022-1689_1022-1681del c.*210_*218del (n.*210_*218del) n.3853_3861del n.2454_2462del c.2965_2973del (p.Pro989_Val991del) n.455_463del c.3013_3021del (p.Pro1005_Val1007del) c.3073_3081del (p.Pro1025_Val1027del) c.2623_2631del (p.Pro875_Val877del) c.925_933del (p.Pro309_Val311del) c.877-1689_877-1681del (n.877-1689_877-1681del) c.2974_2982del (p.Pro992_Val994del) c.3061-1689_3061-1681del (n.3061-1689_3061-1681del) c.2695_2703del (p.Pro899_Val901del) c.2731-1689_2731-1681del (n.2731-1689_2731-1681del) c.1777_1785del (p.Pro593_Val595del) n.3328_3336del | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944236A>C | CA388030342 | ATP7B | c.*894-1682T>G (n.*894-1682T>G) c.*1860T>G (n.*1860T>G) c.2495T>G (p.Val832Gly) c.3116T>G (p.Val1039Gly) c.2783T>G (p.Val928Gly) c.2864T>G (p.Val955Gly) c.2882T>G (p.Val961Gly) n.3255T>G n.3479T>G c.2051T>G (p.Val684Gly) c.1826T>G (p.Val609Gly) c.2921T>G (p.Val974Gly) n.336T>G c.1022-1682T>G c.*217T>G (n.*217T>G) n.3860T>G n.2461T>G c.2972T>G (p.Val991Gly) n.462T>G c.3020T>G (p.Val1007Gly) c.3080T>G (p.Val1027Gly) c.2630T>G (p.Val877Gly) c.932T>G (p.Val311Gly) c.877-1682T>G (n.877-1682T>G) c.2981T>G (p.Val994Gly) c.3061-1682T>G (n.3061-1682T>G) c.2702T>G (p.Val901Gly) c.2731-1682T>G (n.2731-1682T>G) c.1784T>G (p.Val595Gly) n.3335T>G | |
13 | g.51944236A>G | CA388030343 | ATP7B | c.*894-1682T>C (n.*894-1682T>C) c.*1860T>C (n.*1860T>C) c.2495T>C (p.Val832Ala) c.3116T>C (p.Val1039Ala) c.2783T>C (p.Val928Ala) c.2864T>C (p.Val955Ala) c.2882T>C (p.Val961Ala) n.3255T>C n.3479T>C c.2051T>C (p.Val684Ala) c.1826T>C (p.Val609Ala) c.2921T>C (p.Val974Ala) n.336T>C c.1022-1682T>C c.*217T>C (n.*217T>C) n.3860T>C n.2461T>C c.2972T>C (p.Val991Ala) n.462T>C c.3020T>C (p.Val1007Ala) c.3080T>C (p.Val1027Ala) c.2630T>C (p.Val877Ala) c.932T>C (p.Val311Ala) c.877-1682T>C (n.877-1682T>C) c.2981T>C (p.Val994Ala) c.3061-1682T>C (n.3061-1682T>C) c.2702T>C (p.Val901Ala) c.2731-1682T>C (n.2731-1682T>C) c.1784T>C (p.Val595Ala) n.3335T>C | |
13 | g.51944236A>T | CA388030344 | ATP7B | c.*894-1682T>A (n.*894-1682T>A) c.*1860T>A (n.*1860T>A) c.2495T>A (p.Val832Asp) c.3116T>A (p.Val1039Asp) c.2783T>A (p.Val928Asp) c.2864T>A (p.Val955Asp) c.2882T>A (p.Val961Asp) n.3255T>A n.3479T>A c.2051T>A (p.Val684Asp) c.1826T>A (p.Val609Asp) c.2921T>A (p.Val974Asp) n.336T>A c.1022-1682T>A c.*217T>A (n.*217T>A) n.3860T>A n.2461T>A c.2972T>A (p.Val991Asp) n.462T>A c.3020T>A (p.Val1007Asp) c.3080T>A (p.Val1027Asp) c.2630T>A (p.Val877Asp) c.932T>A (p.Val311Asp) c.877-1682T>A (n.877-1682T>A) c.2981T>A (p.Val994Asp) c.3061-1682T>A (n.3061-1682T>A) c.2702T>A (p.Val901Asp) c.2731-1682T>A (n.2731-1682T>A) c.1784T>A (p.Val595Asp) n.3335T>A | |
13 | g.51944237C>A | CA388030345 | ATP7B | c.*894-1683G>T (n.*894-1683G>T) c.*1859G>T (n.*1859G>T) c.2494G>T (p.Val832Phe) c.3115G>T (p.Val1039Phe) c.2782G>T (p.Val928Phe) c.2863G>T (p.Val955Phe) c.2881G>T (p.Val961Phe) n.3254G>T n.3478G>T c.2050G>T (p.Val684Phe) c.1825G>T (p.Val609Phe) c.2920G>T (p.Val974Phe) n.335G>T c.1022-1683G>T c.*216G>T (n.*216G>T) n.3859G>T n.2460G>T c.2971G>T (p.Val991Phe) n.461G>T c.3019G>T (p.Val1007Phe) c.3079G>T (p.Val1027Phe) c.2629G>T (p.Val877Phe) c.931G>T (p.Val311Phe) c.877-1683G>T (n.877-1683G>T) c.2980G>T (p.Val994Phe) c.3061-1683G>T (n.3061-1683G>T) c.2701G>T (p.Val901Phe) c.2731-1683G>T (n.2731-1683G>T) c.1783G>T (p.Val595Phe) n.3334G>T | |
13 | g.51944237C>G | CA388030348 | ATP7B | c.*894-1683G>C (n.*894-1683G>C) c.*1859G>C (n.*1859G>C) c.2494G>C (p.Val832Leu) c.3115G>C (p.Val1039Leu) c.2782G>C (p.Val928Leu) c.2863G>C (p.Val955Leu) c.2881G>C (p.Val961Leu) n.3254G>C n.3478G>C c.2050G>C (p.Val684Leu) c.1825G>C (p.Val609Leu) c.2920G>C (p.Val974Leu) n.335G>C c.1022-1683G>C c.*216G>C (n.*216G>C) n.3859G>C n.2460G>C c.2971G>C (p.Val991Leu) n.461G>C c.3019G>C (p.Val1007Leu) c.3079G>C (p.Val1027Leu) c.2629G>C (p.Val877Leu) c.931G>C (p.Val311Leu) c.877-1683G>C (n.877-1683G>C) c.2980G>C (p.Val994Leu) c.3061-1683G>C (n.3061-1683G>C) c.2701G>C (p.Val901Leu) c.2731-1683G>C (n.2731-1683G>C) c.1783G>C (p.Val595Leu) n.3334G>C | |
13 | g.51944237C>T | CA388030354 | ATP7B | c.*894-1683G>A (n.*894-1683G>A) c.*1859G>A (n.*1859G>A) c.2494G>A (p.Val832Ile) c.3115G>A (p.Val1039Ile) c.2782G>A (p.Val928Ile) c.2863G>A (p.Val955Ile) c.2881G>A (p.Val961Ile) n.3254G>A n.3478G>A c.2050G>A (p.Val684Ile) c.1825G>A (p.Val609Ile) c.2920G>A (p.Val974Ile) n.335G>A c.1022-1683G>A c.*216G>A (n.*216G>A) n.3859G>A n.2460G>A c.2971G>A (p.Val991Ile) n.461G>A c.3019G>A (p.Val1007Ile) c.3079G>A (p.Val1027Ile) c.2629G>A (p.Val877Ile) c.931G>A (p.Val311Ile) c.877-1683G>A (n.877-1683G>A) c.2980G>A (p.Val994Ile) c.3061-1683G>A (n.3061-1683G>A) c.2701G>A (p.Val901Ile) c.2731-1683G>A (n.2731-1683G>A) c.1783G>A (p.Val595Ile) n.3334G>A | |
13 | g.51944239del | CA2695218747 | ATP7B | c.*894-1683del (n.*894-1683del) c.*1859del (n.*1859del) c.2494del (p.Val832SerfsTer?) c.3115del (p.Val1039SerfsTer?) c.2782del (p.Val928SerfsTer?) c.2863del (p.Val955SerfsTer?) c.2881del (p.Val961SerfsTer?) n.3254del n.3478del c.2050del (p.Val684SerfsTer?) c.1825del (p.Val609SerfsTer?) c.2920del (p.Val974SerfsTer?) n.335del c.1022-1683del c.*216del (n.*216del) n.3859del n.2460del c.2971del (p.Val991SerfsTer?) n.461del c.3019del (p.Val1007SerfsTer?) c.3079del (p.Val1027SerfsTer?) c.2629del (p.Val877SerfsTer?) c.931del (p.Val311SerfsTer?) c.877-1683del (n.877-1683del) c.2980del (p.Val994SerfsTer?) c.3061-1683del (n.3061-1683del) c.2701del (p.Val901SerfsTer?) c.2731-1683del (n.2731-1683del) c.1783del (p.Val595SerfsTer?) n.3334del | |
13 | g.51944237_51944253del | CA2575420443 | ATP7B | c.*894-1699_*894-1683del (n.*894-1699_*894-1683del) c.*1843_*1859del (n.*1843_*1859del) c.2478_2494del (p.Gly828AlafsTer28) c.3099_3115del (p.Gly1035AlafsTer28) c.2766_2782del (p.Gly924AlafsTer28) c.2847_2863del (p.Gly951AlafsTer28) c.2865_2881del (p.Gly957AlafsTer28) n.3238_3254del n.3462_3478del c.2034_2050del (p.Gly680AlafsTer28) c.1809_1825del (p.Gly605AlafsTer28) c.2904_2920del (p.Gly970AlafsTer28) n.319_335del c.1022-1699_1022-1683del c.*200_*216del (n.*200_*216del) n.3843_3859del n.2444_2460del c.2955_2971del (p.Gly987AlafsTer28) n.445_461del c.3003_3019del (p.Gly1003AlafsTer28) c.3063_3079del (p.Gly1023AlafsTer28) c.2613_2629del (p.Gly873AlafsTer28) c.915_931del (p.Gly307AlafsTer28) c.877-1699_877-1683del (n.877-1699_877-1683del) c.2964_2980del (p.Gly990AlafsTer28) c.3061-1699_3061-1683del (n.3061-1699_3061-1683del) c.2685_2701del (p.Gly897AlafsTer28) c.2731-1699_2731-1683del (n.2731-1699_2731-1683del) c.1767_1783del (p.Gly591AlafsTer28) n.3318_3334del | |
13 | g.51944238C>A | CA388030361 | ATP7B | c.*894-1684G>T (n.*894-1684G>T) c.*1858G>T (n.*1858G>T) c.2493G>T (p.Arg831Ser) c.3114G>T (p.Arg1038Ser) c.2781G>T (p.Arg927Ser) c.2862G>T (p.Arg954Ser) c.2880G>T (p.Arg960Ser) n.3253G>T n.3477G>T c.2049G>T (p.Arg683Ser) c.1824G>T (p.Arg608Ser) c.2919G>T (p.Arg973Ser) n.334G>T c.1022-1684G>T c.*215G>T (n.*215G>T) n.3858G>T n.2459G>T c.2970G>T (p.Arg990Ser) n.460G>T c.3018G>T (p.Arg1006Ser) c.3078G>T (p.Arg1026Ser) c.2628G>T (p.Arg876Ser) c.930G>T (p.Arg310Ser) c.877-1684G>T (n.877-1684G>T) c.2979G>T (p.Arg993Ser) c.3061-1684G>T (n.3061-1684G>T) c.2700G>T (p.Arg900Ser) c.2731-1684G>T (n.2731-1684G>T) c.1782G>T (p.Arg594Ser) n.3333G>T | |
13 | g.51944238C= | CA2091564071 | ATP7B | c.*894-1684G= (n.*894-1684G=) c.*1858G= (n.*1858G=) c.2493G= (p.Arg831=) c.3114G= (p.Arg1038=) c.2781G= (p.Arg927=) c.2862G= (p.Arg954=) c.2880G= (p.Arg960=) n.3253G= n.3477G= c.2049G= (p.Arg683=) c.1824G= (p.Arg608=) c.2919G= (p.Arg973=) n.334G= c.1022-1684G= c.*215G= (n.*215G=) n.3858G= n.2459G= c.2970G= (p.Arg990=) n.460G= c.3018G= (p.Arg1006=) c.3078G= (p.Arg1026=) c.2628G= (p.Arg876=) c.930G= (p.Arg310=) c.877-1684G= (n.877-1684G=) c.2979G= (p.Arg993=) c.3061-1684G= (n.3061-1684G=) c.2700G= (p.Arg900=) c.2731-1684G= (n.2731-1684G=) c.1782G= (p.Arg594=) n.3333G= | |
13 | g.51944238C>G | CA388030363 | ATP7B | c.*894-1684G>C (n.*894-1684G>C) c.*1858G>C (n.*1858G>C) c.2493G>C (p.Arg831Ser) c.3114G>C (p.Arg1038Ser) c.2781G>C (p.Arg927Ser) c.2862G>C (p.Arg954Ser) c.2880G>C (p.Arg960Ser) n.3253G>C n.3477G>C c.2049G>C (p.Arg683Ser) c.1824G>C (p.Arg608Ser) c.2919G>C (p.Arg973Ser) n.334G>C c.1022-1684G>C c.*215G>C (n.*215G>C) n.3858G>C n.2459G>C c.2970G>C (p.Arg990Ser) n.460G>C c.3018G>C (p.Arg1006Ser) c.3078G>C (p.Arg1026Ser) c.2628G>C (p.Arg876Ser) c.930G>C (p.Arg310Ser) c.877-1684G>C (n.877-1684G>C) c.2979G>C (p.Arg993Ser) c.3061-1684G>C (n.3061-1684G>C) c.2700G>C (p.Arg900Ser) c.2731-1684G>C (n.2731-1684G>C) c.1782G>C (p.Arg594Ser) n.3333G>C | |
13 | g.51944238C>T | CA6988804 | ATP7B | c.*894-1684G>A (n.*894-1684G>A) c.*1858G>A (n.*1858G>A) c.2493G>A (p.Arg831=) c.3114G>A (p.Arg1038=) c.2781G>A (p.Arg927=) c.2862G>A (p.Arg954=) c.2880G>A (p.Arg960=) n.3253G>A n.3477G>A c.2049G>A (p.Arg683=) c.1824G>A (p.Arg608=) c.2919G>A (p.Arg973=) n.334G>A c.1022-1684G>A c.*215G>A (n.*215G>A) n.3858G>A n.2459G>A c.2970G>A (p.Arg990=) n.460G>A c.3018G>A (p.Arg1006=) c.3078G>A (p.Arg1026=) c.2628G>A (p.Arg876=) c.930G>A (p.Arg310=) c.877-1684G>A (n.877-1684G>A) c.2979G>A (p.Arg993=) c.3061-1684G>A (n.3061-1684G>A) c.2700G>A (p.Arg900=) c.2731-1684G>A (n.2731-1684G>A) c.1782G>A (p.Arg594=) n.3333G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944239C>A | CA388030373 | ATP7B | c.*894-1685G>T (n.*894-1685G>T) c.*1857G>T (n.*1857G>T) c.2492G>T (p.Arg831Met) c.3113G>T (p.Arg1038Met) c.2780G>T (p.Arg927Met) c.2861G>T (p.Arg954Met) c.2879G>T (p.Arg960Met) n.3252G>T n.3476G>T c.2048G>T (p.Arg683Met) c.1823G>T (p.Arg608Met) c.2918G>T (p.Arg973Met) n.333G>T c.1022-1685G>T c.*214G>T (n.*214G>T) n.3857G>T n.2458G>T c.2969G>T (p.Arg990Met) n.459G>T c.3017G>T (p.Arg1006Met) c.3077G>T (p.Arg1026Met) c.2627G>T (p.Arg876Met) c.929G>T (p.Arg310Met) c.877-1685G>T (n.877-1685G>T) c.2978G>T (p.Arg993Met) c.3061-1685G>T (n.3061-1685G>T) c.2699G>T (p.Arg900Met) c.2731-1685G>T (n.2731-1685G>T) c.1781G>T (p.Arg594Met) n.3332G>T | |
13 | g.51944239C= | CA2091564075 | ATP7B | c.*894-1685G= (n.*894-1685G=) c.*1857G= (n.*1857G=) c.2492G= (p.Arg831=) c.3113G= (p.Arg1038=) c.2780G= (p.Arg927=) c.2861G= (p.Arg954=) c.2879G= (p.Arg960=) n.3252G= n.3476G= c.2048G= (p.Arg683=) c.1823G= (p.Arg608=) c.2918G= (p.Arg973=) n.333G= c.1022-1685G= c.*214G= (n.*214G=) n.3857G= n.2458G= c.2969G= (p.Arg990=) n.459G= c.3017G= (p.Arg1006=) c.3077G= (p.Arg1026=) c.2627G= (p.Arg876=) c.929G= (p.Arg310=) c.877-1685G= (n.877-1685G=) c.2978G= (p.Arg993=) c.3061-1685G= (n.3061-1685G=) c.2699G= (p.Arg900=) c.2731-1685G= (n.2731-1685G=) c.1781G= (p.Arg594=) n.3332G= | |
13 | g.51944239C>G | CA250080239 | ATP7B | c.*894-1685G>C (n.*894-1685G>C) c.*1857G>C (n.*1857G>C) c.2492G>C (p.Arg831Thr) c.3113G>C (p.Arg1038Thr) c.2780G>C (p.Arg927Thr) c.2861G>C (p.Arg954Thr) c.2879G>C (p.Arg960Thr) n.3252G>C n.3476G>C c.2048G>C (p.Arg683Thr) c.1823G>C (p.Arg608Thr) c.2918G>C (p.Arg973Thr) n.333G>C c.1022-1685G>C c.*214G>C (n.*214G>C) n.3857G>C n.2458G>C c.2969G>C (p.Arg990Thr) n.459G>C c.3017G>C (p.Arg1006Thr) c.3077G>C (p.Arg1026Thr) c.2627G>C (p.Arg876Thr) c.929G>C (p.Arg310Thr) c.877-1685G>C (n.877-1685G>C) c.2978G>C (p.Arg993Thr) c.3061-1685G>C (n.3061-1685G>C) c.2699G>C (p.Arg900Thr) c.2731-1685G>C (n.2731-1685G>C) c.1781G>C (p.Arg594Thr) n.3332G>C | dbSNP gnomAD v4 |
13 | g.51944239C>T | CA6988805 | ATP7B | c.*894-1685G>A (n.*894-1685G>A) c.*1857G>A (n.*1857G>A) c.2492G>A (p.Arg831Lys) c.3113G>A (p.Arg1038Lys) c.2780G>A (p.Arg927Lys) c.2861G>A (p.Arg954Lys) c.2879G>A (p.Arg960Lys) n.3252G>A n.3476G>A c.2048G>A (p.Arg683Lys) c.1823G>A (p.Arg608Lys) c.2918G>A (p.Arg973Lys) n.333G>A c.1022-1685G>A c.*214G>A (n.*214G>A) n.3857G>A n.2458G>A c.2969G>A (p.Arg990Lys) n.459G>A c.3017G>A (p.Arg1006Lys) c.3077G>A (p.Arg1026Lys) c.2627G>A (p.Arg876Lys) c.929G>A (p.Arg310Lys) c.877-1685G>A (n.877-1685G>A) c.2978G>A (p.Arg993Lys) c.3061-1685G>A (n.3061-1685G>A) c.2699G>A (p.Arg900Lys) c.2731-1685G>A (n.2731-1685G>A) c.1781G>A (p.Arg594Lys) n.3332G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944240T>A | CA388030378 | ATP7B | c.*894-1686A>T (n.*894-1686A>T) c.*1856A>T (n.*1856A>T) c.2491A>T (p.Arg831Trp) c.3112A>T (p.Arg1038Trp) c.2779A>T (p.Arg927Trp) c.2860A>T (p.Arg954Trp) c.2878A>T (p.Arg960Trp) n.3251A>T n.3475A>T c.2047A>T (p.Arg683Trp) c.1822A>T (p.Arg608Trp) c.2917A>T (p.Arg973Trp) n.332A>T c.1022-1686A>T c.*213A>T (n.*213A>T) n.3856A>T n.2457A>T c.2968A>T (p.Arg990Trp) n.458A>T c.3016A>T (p.Arg1006Trp) c.3076A>T (p.Arg1026Trp) c.2626A>T (p.Arg876Trp) c.928A>T (p.Arg310Trp) c.877-1686A>T (n.877-1686A>T) c.2977A>T (p.Arg993Trp) c.3061-1686A>T (n.3061-1686A>T) c.2698A>T (p.Arg900Trp) c.2731-1686A>T (n.2731-1686A>T) c.1780A>T (p.Arg594Trp) n.3331A>T | |
13 | g.51944240T>C | CA388030387 | ATP7B | c.*894-1686A>G (n.*894-1686A>G) c.*1856A>G (n.*1856A>G) c.2491A>G (p.Arg831Gly) c.3112A>G (p.Arg1038Gly) c.2779A>G (p.Arg927Gly) c.2860A>G (p.Arg954Gly) c.2878A>G (p.Arg960Gly) n.3251A>G n.3475A>G c.2047A>G (p.Arg683Gly) c.1822A>G (p.Arg608Gly) c.2917A>G (p.Arg973Gly) n.332A>G c.1022-1686A>G c.*213A>G (n.*213A>G) n.3856A>G n.2457A>G c.2968A>G (p.Arg990Gly) n.458A>G c.3016A>G (p.Arg1006Gly) c.3076A>G (p.Arg1026Gly) c.2626A>G (p.Arg876Gly) c.928A>G (p.Arg310Gly) c.877-1686A>G (n.877-1686A>G) c.2977A>G (p.Arg993Gly) c.3061-1686A>G (n.3061-1686A>G) c.2698A>G (p.Arg900Gly) c.2731-1686A>G (n.2731-1686A>G) c.1780A>G (p.Arg594Gly) n.3331A>G | |
13 | g.51944240T>G | CA483894740 | ATP7B | c.*894-1686A>C (n.*894-1686A>C) c.*1856A>C (n.*1856A>C) c.2491A>C (p.Arg831=) c.3112A>C (p.Arg1038=) c.2779A>C (p.Arg927=) c.2860A>C (p.Arg954=) c.2878A>C (p.Arg960=) n.3251A>C n.3475A>C c.2047A>C (p.Arg683=) c.1822A>C (p.Arg608=) c.2917A>C (p.Arg973=) n.332A>C c.1022-1686A>C c.*213A>C (n.*213A>C) n.3856A>C n.2457A>C c.2968A>C (p.Arg990=) n.458A>C c.3016A>C (p.Arg1006=) c.3076A>C (p.Arg1026=) c.2626A>C (p.Arg876=) c.928A>C (p.Arg310=) c.877-1686A>C (n.877-1686A>C) c.2977A>C (p.Arg993=) c.3061-1686A>C (n.3061-1686A>C) c.2698A>C (p.Arg900=) c.2731-1686A>C (n.2731-1686A>C) c.1780A>C (p.Arg594=) n.3331A>C | ClinVar dbSNP |
13 | g.51944240T= | CA2091564080 | ATP7B | c.*894-1686A= (n.*894-1686A=) c.*1856A= (n.*1856A=) c.2491A= (p.Arg831=) c.3112A= (p.Arg1038=) c.2779A= (p.Arg927=) c.2860A= (p.Arg954=) c.2878A= (p.Arg960=) n.3251A= n.3475A= c.2047A= (p.Arg683=) c.1822A= (p.Arg608=) c.2917A= (p.Arg973=) n.332A= c.1022-1686A= c.*213A= (n.*213A=) n.3856A= n.2457A= c.2968A= (p.Arg990=) n.458A= c.3016A= (p.Arg1006=) c.3076A= (p.Arg1026=) c.2626A= (p.Arg876=) c.928A= (p.Arg310=) c.877-1686A= (n.877-1686A=) c.2977A= (p.Arg993=) c.3061-1686A= (n.3061-1686A=) c.2698A= (p.Arg900=) c.2731-1686A= (n.2731-1686A=) c.1780A= (p.Arg594=) n.3331A= | |
13 | g.51944241G>A | CA483894741 | ATP7B | c.*894-1687C>T (n.*894-1687C>T) c.*1855C>T (n.*1855C>T) c.2490C>T (p.Pro830=) c.3111C>T (p.Pro1037=) c.2778C>T (p.Pro926=) c.2859C>T (p.Pro953=) c.2877C>T (p.Pro959=) n.3250C>T n.3474C>T c.2046C>T (p.Pro682=) c.1821C>T (p.Pro607=) c.2916C>T (p.Pro972=) n.331C>T c.1022-1687C>T c.*212C>T (n.*212C>T) n.3855C>T n.2456C>T c.2967C>T (p.Pro989=) n.457C>T c.3015C>T (p.Pro1005=) c.3075C>T (p.Pro1025=) c.2625C>T (p.Pro875=) c.927C>T (p.Pro309=) c.877-1687C>T (n.877-1687C>T) c.2976C>T (p.Pro992=) c.3061-1687C>T (n.3061-1687C>T) c.2697C>T (p.Pro899=) c.2731-1687C>T (n.2731-1687C>T) c.1779C>T (p.Pro593=) n.3330C>T | |
13 | g.51944241G>C | CA483894742 | ATP7B | c.*894-1687C>G (n.*894-1687C>G) c.*1855C>G (n.*1855C>G) c.2490C>G (p.Pro830=) c.3111C>G (p.Pro1037=) c.2778C>G (p.Pro926=) c.2859C>G (p.Pro953=) c.2877C>G (p.Pro959=) n.3250C>G n.3474C>G c.2046C>G (p.Pro682=) c.1821C>G (p.Pro607=) c.2916C>G (p.Pro972=) n.331C>G c.1022-1687C>G c.*212C>G (n.*212C>G) n.3855C>G n.2456C>G c.2967C>G (p.Pro989=) n.457C>G c.3015C>G (p.Pro1005=) c.3075C>G (p.Pro1025=) c.2625C>G (p.Pro875=) c.927C>G (p.Pro309=) c.877-1687C>G (n.877-1687C>G) c.2976C>G (p.Pro992=) c.3061-1687C>G (n.3061-1687C>G) c.2697C>G (p.Pro899=) c.2731-1687C>G (n.2731-1687C>G) c.1779C>G (p.Pro593=) n.3330C>G | |
13 | g.51944241G>T | CA483894743 | ATP7B | c.*894-1687C>A (n.*894-1687C>A) c.*1855C>A (n.*1855C>A) c.2490C>A (p.Pro830=) c.3111C>A (p.Pro1037=) c.2778C>A (p.Pro926=) c.2859C>A (p.Pro953=) c.2877C>A (p.Pro959=) n.3250C>A n.3474C>A c.2046C>A (p.Pro682=) c.1821C>A (p.Pro607=) c.2916C>A (p.Pro972=) n.331C>A c.1022-1687C>A c.*212C>A (n.*212C>A) n.3855C>A n.2456C>A c.2967C>A (p.Pro989=) n.457C>A c.3015C>A (p.Pro1005=) c.3075C>A (p.Pro1025=) c.2625C>A (p.Pro875=) c.927C>A (p.Pro309=) c.877-1687C>A (n.877-1687C>A) c.2976C>A (p.Pro992=) c.3061-1687C>A (n.3061-1687C>A) c.2697C>A (p.Pro899=) c.2731-1687C>A (n.2731-1687C>A) c.1779C>A (p.Pro593=) n.3330C>A | |
13 | g.51944244del | CA2580087657 | ATP7B | c.*894-1687del (n.*894-1687del) c.*1855del (n.*1855del) c.2490del (p.Arg831GlyfsTer?) c.3111del (p.Arg1038GlyfsTer?) c.2778del (p.Arg927GlyfsTer?) c.2859del (p.Arg954GlyfsTer?) c.2877del (p.Arg960GlyfsTer?) n.3250del n.3474del c.2046del (p.Arg683GlyfsTer?) c.1821del (p.Arg608GlyfsTer?) c.2916del (p.Arg973GlyfsTer?) n.331del c.1022-1687del c.*212del (n.*212del) n.3855del n.2456del c.2967del (p.Arg990GlyfsTer?) n.457del c.3015del (p.Arg1006GlyfsTer?) c.3075del (p.Arg1026GlyfsTer?) c.2625del (p.Arg876GlyfsTer?) c.927del (p.Arg310GlyfsTer?) c.877-1687del (n.877-1687del) c.2976del (p.Arg993GlyfsTer?) c.3061-1687del (n.3061-1687del) c.2697del (p.Arg900GlyfsTer?) c.2731-1687del (n.2731-1687del) c.1779del (p.Arg594GlyfsTer?) n.3330del | ClinVar |
13 | g.51944242G>A | CA388030388 | ATP7B | c.*894-1688C>T (n.*894-1688C>T) c.*1854C>T (n.*1854C>T) c.2489C>T (p.Pro830Leu) c.3110C>T (p.Pro1037Leu) c.2777C>T (p.Pro926Leu) c.2858C>T (p.Pro953Leu) c.2876C>T (p.Pro959Leu) n.3249C>T n.3473C>T c.2045C>T (p.Pro682Leu) c.1820C>T (p.Pro607Leu) c.2915C>T (p.Pro972Leu) n.330C>T c.1022-1688C>T c.*211C>T (n.*211C>T) n.3854C>T n.2455C>T c.2966C>T (p.Pro989Leu) n.456C>T c.3014C>T (p.Pro1005Leu) c.3074C>T (p.Pro1025Leu) c.2624C>T (p.Pro875Leu) c.926C>T (p.Pro309Leu) c.877-1688C>T (n.877-1688C>T) c.2975C>T (p.Pro992Leu) c.3061-1688C>T (n.3061-1688C>T) c.2696C>T (p.Pro899Leu) c.2731-1688C>T (n.2731-1688C>T) c.1778C>T (p.Pro593Leu) n.3329C>T | ClinVar |
13 | g.51944242G>C | CA388030389 | ATP7B | c.*894-1688C>G (n.*894-1688C>G) c.*1854C>G (n.*1854C>G) c.2489C>G (p.Pro830Arg) c.3110C>G (p.Pro1037Arg) c.2777C>G (p.Pro926Arg) c.2858C>G (p.Pro953Arg) c.2876C>G (p.Pro959Arg) n.3249C>G n.3473C>G c.2045C>G (p.Pro682Arg) c.1820C>G (p.Pro607Arg) c.2915C>G (p.Pro972Arg) n.330C>G c.1022-1688C>G c.*211C>G (n.*211C>G) n.3854C>G n.2455C>G c.2966C>G (p.Pro989Arg) n.456C>G c.3014C>G (p.Pro1005Arg) c.3074C>G (p.Pro1025Arg) c.2624C>G (p.Pro875Arg) c.926C>G (p.Pro309Arg) c.877-1688C>G (n.877-1688C>G) c.2975C>G (p.Pro992Arg) c.3061-1688C>G (n.3061-1688C>G) c.2696C>G (p.Pro899Arg) c.2731-1688C>G (n.2731-1688C>G) c.1778C>G (p.Pro593Arg) n.3329C>G | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944242G= | CA2091564084 | ATP7B | c.*894-1688C= (n.*894-1688C=) c.*1854C= (n.*1854C=) c.2489C= (p.Pro830=) c.3110C= (p.Pro1037=) c.2777C= (p.Pro926=) c.2858C= (p.Pro953=) c.2876C= (p.Pro959=) n.3249C= n.3473C= c.2045C= (p.Pro682=) c.1820C= (p.Pro607=) c.2915C= (p.Pro972=) n.330C= c.1022-1688C= c.*211C= (n.*211C=) n.3854C= n.2455C= c.2966C= (p.Pro989=) n.456C= c.3014C= (p.Pro1005=) c.3074C= (p.Pro1025=) c.2624C= (p.Pro875=) c.926C= (p.Pro309=) c.877-1688C= (n.877-1688C=) c.2975C= (p.Pro992=) c.3061-1688C= (n.3061-1688C=) c.2696C= (p.Pro899=) c.2731-1688C= (n.2731-1688C=) c.1778C= (p.Pro593=) n.3329C= | |
13 | g.51944242G>T | CA388030390 | ATP7B | c.*894-1688C>A (n.*894-1688C>A) c.*1854C>A (n.*1854C>A) c.2489C>A (p.Pro830His) c.3110C>A (p.Pro1037His) c.2777C>A (p.Pro926His) c.2858C>A (p.Pro953His) c.2876C>A (p.Pro959His) n.3249C>A n.3473C>A c.2045C>A (p.Pro682His) c.1820C>A (p.Pro607His) c.2915C>A (p.Pro972His) n.330C>A c.1022-1688C>A c.*211C>A (n.*211C>A) n.3854C>A n.2455C>A c.2966C>A (p.Pro989His) n.456C>A c.3014C>A (p.Pro1005His) c.3074C>A (p.Pro1025His) c.2624C>A (p.Pro875His) c.926C>A (p.Pro309His) c.877-1688C>A (n.877-1688C>A) c.2975C>A (p.Pro992His) c.3061-1688C>A (n.3061-1688C>A) c.2696C>A (p.Pro899His) c.2731-1688C>A (n.2731-1688C>A) c.1778C>A (p.Pro593His) n.3329C>A | |
13 | g.51944243G>A | CA6988806 | ATP7B | c.*894-1689C>T (n.*894-1689C>T) c.*1853C>T (n.*1853C>T) c.2488C>T (p.Pro830Ser) c.3109C>T (p.Pro1037Ser) c.2776C>T (p.Pro926Ser) c.2857C>T (p.Pro953Ser) c.2875C>T (p.Pro959Ser) n.3248C>T n.3472C>T c.2044C>T (p.Pro682Ser) c.1819C>T (p.Pro607Ser) c.2914C>T (p.Pro972Ser) n.329C>T c.1022-1689C>T c.*210C>T (n.*210C>T) n.3853C>T n.2454C>T c.2965C>T (p.Pro989Ser) n.455C>T c.3013C>T (p.Pro1005Ser) c.3073C>T (p.Pro1025Ser) c.2623C>T (p.Pro875Ser) c.925C>T (p.Pro309Ser) c.877-1689C>T (n.877-1689C>T) c.2974C>T (p.Pro992Ser) c.3061-1689C>T (n.3061-1689C>T) c.2695C>T (p.Pro899Ser) c.2731-1689C>T (n.2731-1689C>T) c.1777C>T (p.Pro593Ser) n.3328C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944243G>C | CA250080255 | ATP7B | c.*894-1689C>G (n.*894-1689C>G) c.*1853C>G (n.*1853C>G) c.2488C>G (p.Pro830Ala) c.3109C>G (p.Pro1037Ala) c.2776C>G (p.Pro926Ala) c.2857C>G (p.Pro953Ala) c.2875C>G (p.Pro959Ala) n.3248C>G n.3472C>G c.2044C>G (p.Pro682Ala) c.1819C>G (p.Pro607Ala) c.2914C>G (p.Pro972Ala) n.329C>G c.1022-1689C>G c.*210C>G (n.*210C>G) n.3853C>G n.2454C>G c.2965C>G (p.Pro989Ala) n.455C>G c.3013C>G (p.Pro1005Ala) c.3073C>G (p.Pro1025Ala) c.2623C>G (p.Pro875Ala) c.925C>G (p.Pro309Ala) c.877-1689C>G (n.877-1689C>G) c.2974C>G (p.Pro992Ala) c.3061-1689C>G (n.3061-1689C>G) c.2695C>G (p.Pro899Ala) c.2731-1689C>G (n.2731-1689C>G) c.1777C>G (p.Pro593Ala) n.3328C>G | dbSNP |
13 | g.51944243G= | CA2091564088 | ATP7B | c.*894-1689C= (n.*894-1689C=) c.*1853C= (n.*1853C=) c.2488C= (p.Pro830=) c.3109C= (p.Pro1037=) c.2776C= (p.Pro926=) c.2857C= (p.Pro953=) c.2875C= (p.Pro959=) n.3248C= n.3472C= c.2044C= (p.Pro682=) c.1819C= (p.Pro607=) c.2914C= (p.Pro972=) n.329C= c.1022-1689C= c.*210C= (n.*210C=) n.3853C= n.2454C= c.2965C= (p.Pro989=) n.455C= c.3013C= (p.Pro1005=) c.3073C= (p.Pro1025=) c.2623C= (p.Pro875=) c.925C= (p.Pro309=) c.877-1689C= (n.877-1689C=) c.2974C= (p.Pro992=) c.3061-1689C= (n.3061-1689C=) c.2695C= (p.Pro899=) c.2731-1689C= (n.2731-1689C=) c.1777C= (p.Pro593=) n.3328C= | |
13 | g.51944243G>T | CA388030393 | ATP7B | c.*894-1689C>A (n.*894-1689C>A) c.*1853C>A (n.*1853C>A) c.2488C>A (p.Pro830Thr) c.3109C>A (p.Pro1037Thr) c.2776C>A (p.Pro926Thr) c.2857C>A (p.Pro953Thr) c.2875C>A (p.Pro959Thr) n.3248C>A n.3472C>A c.2044C>A (p.Pro682Thr) c.1819C>A (p.Pro607Thr) c.2914C>A (p.Pro972Thr) n.329C>A c.1022-1689C>A c.*210C>A (n.*210C>A) n.3853C>A n.2454C>A c.2965C>A (p.Pro989Thr) n.455C>A c.3013C>A (p.Pro1005Thr) c.3073C>A (p.Pro1025Thr) c.2623C>A (p.Pro875Thr) c.925C>A (p.Pro309Thr) c.877-1689C>A (n.877-1689C>A) c.2974C>A (p.Pro992Thr) c.3061-1689C>A (n.3061-1689C>A) c.2695C>A (p.Pro899Thr) c.2731-1689C>A (n.2731-1689C>A) c.1777C>A (p.Pro593Thr) n.3328C>A | |
13 | g.51944244G>A | CA483894744 | ATP7B | c.*894-1690C>T (n.*894-1690C>T) c.*1852C>T (n.*1852C>T) c.2487C>T (p.Val829=) c.3108C>T (p.Val1036=) c.2775C>T (p.Val925=) c.2856C>T (p.Val952=) c.2874C>T (p.Val958=) n.3247C>T n.3471C>T c.2043C>T (p.Val681=) c.1818C>T (p.Val606=) c.2913C>T (p.Val971=) n.328C>T c.1022-1690C>T c.*209C>T (n.*209C>T) n.3852C>T n.2453C>T c.2964C>T (p.Val988=) n.454C>T c.3012C>T (p.Val1004=) c.3072C>T (p.Val1024=) c.2622C>T (p.Val874=) c.924C>T (p.Val308=) c.877-1690C>T (n.877-1690C>T) c.2973C>T (p.Val991=) c.3061-1690C>T (n.3061-1690C>T) c.2694C>T (p.Val898=) c.2731-1690C>T (n.2731-1690C>T) c.1776C>T (p.Val592=) n.3327C>T | |
13 | g.51944244G>C | CA483894745 | ATP7B | c.*894-1690C>G (n.*894-1690C>G) c.*1852C>G (n.*1852C>G) c.2487C>G (p.Val829=) c.3108C>G (p.Val1036=) c.2775C>G (p.Val925=) c.2856C>G (p.Val952=) c.2874C>G (p.Val958=) n.3247C>G n.3471C>G c.2043C>G (p.Val681=) c.1818C>G (p.Val606=) c.2913C>G (p.Val971=) n.328C>G c.1022-1690C>G c.*209C>G (n.*209C>G) n.3852C>G n.2453C>G c.2964C>G (p.Val988=) n.454C>G c.3012C>G (p.Val1004=) c.3072C>G (p.Val1024=) c.2622C>G (p.Val874=) c.924C>G (p.Val308=) c.877-1690C>G (n.877-1690C>G) c.2973C>G (p.Val991=) c.3061-1690C>G (n.3061-1690C>G) c.2694C>G (p.Val898=) c.2731-1690C>G (n.2731-1690C>G) c.1776C>G (p.Val592=) n.3327C>G | |
13 | g.51944244G= | CA2091564094 | ATP7B | c.*894-1690C= (n.*894-1690C=) c.*1852C= (n.*1852C=) c.2487C= (p.Val829=) c.3108C= (p.Val1036=) c.2775C= (p.Val925=) c.2856C= (p.Val952=) c.2874C= (p.Val958=) n.3247C= n.3471C= c.2043C= (p.Val681=) c.1818C= (p.Val606=) c.2913C= (p.Val971=) n.328C= c.1022-1690C= c.*209C= (n.*209C=) n.3852C= n.2453C= c.2964C= (p.Val988=) n.454C= c.3012C= (p.Val1004=) c.3072C= (p.Val1024=) c.2622C= (p.Val874=) c.924C= (p.Val308=) c.877-1690C= (n.877-1690C=) c.2973C= (p.Val991=) c.3061-1690C= (n.3061-1690C=) c.2694C= (p.Val898=) c.2731-1690C= (n.2731-1690C=) c.1776C= (p.Val592=) n.3327C= | |
13 | g.51944244G>T | CA483894746 | ATP7B | c.*894-1690C>A (n.*894-1690C>A) c.*1852C>A (n.*1852C>A) c.2487C>A (p.Val829=) c.3108C>A (p.Val1036=) c.2775C>A (p.Val925=) c.2856C>A (p.Val952=) c.2874C>A (p.Val958=) n.3247C>A n.3471C>A c.2043C>A (p.Val681=) c.1818C>A (p.Val606=) c.2913C>A (p.Val971=) n.328C>A c.1022-1690C>A c.*209C>A (n.*209C>A) n.3852C>A n.2453C>A c.2964C>A (p.Val988=) n.454C>A c.3012C>A (p.Val1004=) c.3072C>A (p.Val1024=) c.2622C>A (p.Val874=) c.924C>A (p.Val308=) c.877-1690C>A (n.877-1690C>A) c.2973C>A (p.Val991=) c.3061-1690C>A (n.3061-1690C>A) c.2694C>A (p.Val898=) c.2731-1690C>A (n.2731-1690C>A) c.1776C>A (p.Val592=) n.3327C>A | ClinVar dbSNP gnomAD v4 |
13 | g.51944245A= | CA2091564102 | ATP7B | c.*894-1691T= (n.*894-1691T=) c.*1851T= (n.*1851T=) c.2486T= (p.Val829=) c.3107T= (p.Val1036=) c.2774T= (p.Val925=) c.2855T= (p.Val952=) c.2873T= (p.Val958=) n.3246T= n.3470T= c.2042T= (p.Val681=) c.1817T= (p.Val606=) c.2912T= (p.Val971=) n.327T= c.1022-1691T= c.*208T= (n.*208T=) n.3851T= n.2452T= c.2963T= (p.Val988=) n.453T= c.3011T= (p.Val1004=) c.3071T= (p.Val1024=) c.2621T= (p.Val874=) c.923T= (p.Val308=) c.877-1691T= (n.877-1691T=) c.2972T= (p.Val991=) c.3061-1691T= (n.3061-1691T=) c.2693T= (p.Val898=) c.2731-1691T= (n.2731-1691T=) c.1775T= (p.Val592=) n.3326T= | |
13 | g.51944245A>C | CA388030404 | ATP7B | c.*894-1691T>G (n.*894-1691T>G) c.*1851T>G (n.*1851T>G) c.2486T>G (p.Val829Gly) c.3107T>G (p.Val1036Gly) c.2774T>G (p.Val925Gly) c.2855T>G (p.Val952Gly) c.2873T>G (p.Val958Gly) n.3246T>G n.3470T>G c.2042T>G (p.Val681Gly) c.1817T>G (p.Val606Gly) c.2912T>G (p.Val971Gly) n.327T>G c.1022-1691T>G c.*208T>G (n.*208T>G) n.3851T>G n.2452T>G c.2963T>G (p.Val988Gly) n.453T>G c.3011T>G (p.Val1004Gly) c.3071T>G (p.Val1024Gly) c.2621T>G (p.Val874Gly) c.923T>G (p.Val308Gly) c.877-1691T>G (n.877-1691T>G) c.2972T>G (p.Val991Gly) c.3061-1691T>G (n.3061-1691T>G) c.2693T>G (p.Val898Gly) c.2731-1691T>G (n.2731-1691T>G) c.1775T>G (p.Val592Gly) n.3326T>G | |
13 | g.51944245A>G | CA388030406 | ATP7B | c.*894-1691T>C (n.*894-1691T>C) c.*1851T>C (n.*1851T>C) c.2486T>C (p.Val829Ala) c.3107T>C (p.Val1036Ala) c.2774T>C (p.Val925Ala) c.2855T>C (p.Val952Ala) c.2873T>C (p.Val958Ala) n.3246T>C n.3470T>C c.2042T>C (p.Val681Ala) c.1817T>C (p.Val606Ala) c.2912T>C (p.Val971Ala) n.327T>C c.1022-1691T>C c.*208T>C (n.*208T>C) n.3851T>C n.2452T>C c.2963T>C (p.Val988Ala) n.453T>C c.3011T>C (p.Val1004Ala) c.3071T>C (p.Val1024Ala) c.2621T>C (p.Val874Ala) c.923T>C (p.Val308Ala) c.877-1691T>C (n.877-1691T>C) c.2972T>C (p.Val991Ala) c.3061-1691T>C (n.3061-1691T>C) c.2693T>C (p.Val898Ala) c.2731-1691T>C (n.2731-1691T>C) c.1775T>C (p.Val592Ala) n.3326T>C | |
13 | g.51944245A>T | CA388030408 | ATP7B | c.*894-1691T>A (n.*894-1691T>A) c.*1851T>A (n.*1851T>A) c.2486T>A (p.Val829Asp) c.3107T>A (p.Val1036Asp) c.2774T>A (p.Val925Asp) c.2855T>A (p.Val952Asp) c.2873T>A (p.Val958Asp) n.3246T>A n.3470T>A c.2042T>A (p.Val681Asp) c.1817T>A (p.Val606Asp) c.2912T>A (p.Val971Asp) n.327T>A c.1022-1691T>A c.*208T>A (n.*208T>A) n.3851T>A n.2452T>A c.2963T>A (p.Val988Asp) n.453T>A c.3011T>A (p.Val1004Asp) c.3071T>A (p.Val1024Asp) c.2621T>A (p.Val874Asp) c.923T>A (p.Val308Asp) c.877-1691T>A (n.877-1691T>A) c.2972T>A (p.Val991Asp) c.3061-1691T>A (n.3061-1691T>A) c.2693T>A (p.Val898Asp) c.2731-1691T>A (n.2731-1691T>A) c.1775T>A (p.Val592Asp) n.3326T>A | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944245dup | CA10605504 | ATP7B | c.*894-1691dup (n.*894-1691dup) c.*1851dup (n.*1851dup) c.2486dup (p.Arg831GlnfsTer?) c.3107dup (p.Arg1038GlnfsTer?) c.2774dup (p.Arg927GlnfsTer?) c.2855dup (p.Arg954GlnfsTer?) c.2873dup (p.Arg960GlnfsTer?) n.3246dup n.3470dup c.2042dup (p.Arg683GlnfsTer?) c.1817dup (p.Arg608GlnfsTer?) c.2912dup (p.Arg973GlnfsTer?) n.327dup c.1022-1691dup c.*208dup (n.*208dup) n.3851dup n.2452dup c.2963dup (p.Arg990GlnfsTer?) n.453dup c.3011dup (p.Arg1006GlnfsTer?) c.3071dup (p.Arg1026GlnfsTer?) c.2621dup (p.Arg876GlnfsTer?) c.923dup (p.Arg310GlnfsTer?) c.877-1691dup (n.877-1691dup) c.2972dup (p.Arg993GlnfsTer?) c.3061-1691dup (n.3061-1691dup) c.2693dup (p.Arg900GlnfsTer?) c.2731-1691dup (n.2731-1691dup) c.1775dup (p.Arg594GlnfsTer?) n.3326dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944246C>A | CA388030411 | ATP7B | c.*894-1692G>T (n.*894-1692G>T) c.*1850G>T (n.*1850G>T) c.2485G>T (p.Val829Phe) c.3106G>T (p.Val1036Phe) c.2773G>T (p.Val925Phe) c.2854G>T (p.Val952Phe) c.2872G>T (p.Val958Phe) n.3245G>T n.3469G>T c.2041G>T (p.Val681Phe) c.1816G>T (p.Val606Phe) c.2911G>T (p.Val971Phe) n.326G>T c.1022-1692G>T c.*207G>T (n.*207G>T) n.3850G>T n.2451G>T c.2962G>T (p.Val988Phe) n.452G>T c.3010G>T (p.Val1004Phe) c.3070G>T (p.Val1024Phe) c.2620G>T (p.Val874Phe) c.922G>T (p.Val308Phe) c.877-1692G>T (n.877-1692G>T) c.2971G>T (p.Val991Phe) c.3061-1692G>T (n.3061-1692G>T) c.2692G>T (p.Val898Phe) c.2731-1692G>T (n.2731-1692G>T) c.1774G>T (p.Val592Phe) n.3325G>T | ClinVar dbSNP gnomAD v4 |
13 | g.51944246C= | CA2091564110 | ATP7B | c.*894-1692G= (n.*894-1692G=) c.*1850G= (n.*1850G=) c.2485G= (p.Val829=) c.3106G= (p.Val1036=) c.2773G= (p.Val925=) c.2854G= (p.Val952=) c.2872G= (p.Val958=) n.3245G= n.3469G= c.2041G= (p.Val681=) c.1816G= (p.Val606=) c.2911G= (p.Val971=) n.326G= c.1022-1692G= c.*207G= (n.*207G=) n.3850G= n.2451G= c.2962G= (p.Val988=) n.452G= c.3010G= (p.Val1004=) c.3070G= (p.Val1024=) c.2620G= (p.Val874=) c.922G= (p.Val308=) c.877-1692G= (n.877-1692G=) c.2971G= (p.Val991=) c.3061-1692G= (n.3061-1692G=) c.2692G= (p.Val898=) c.2731-1692G= (n.2731-1692G=) c.1774G= (p.Val592=) n.3325G= | |
13 | g.51944246C>G | CA388030424 | ATP7B | c.*894-1692G>C (n.*894-1692G>C) c.*1850G>C (n.*1850G>C) c.2485G>C (p.Val829Leu) c.3106G>C (p.Val1036Leu) c.2773G>C (p.Val925Leu) c.2854G>C (p.Val952Leu) c.2872G>C (p.Val958Leu) n.3245G>C n.3469G>C c.2041G>C (p.Val681Leu) c.1816G>C (p.Val606Leu) c.2911G>C (p.Val971Leu) n.326G>C c.1022-1692G>C c.*207G>C (n.*207G>C) n.3850G>C n.2451G>C c.2962G>C (p.Val988Leu) n.452G>C c.3010G>C (p.Val1004Leu) c.3070G>C (p.Val1024Leu) c.2620G>C (p.Val874Leu) c.922G>C (p.Val308Leu) c.877-1692G>C (n.877-1692G>C) c.2971G>C (p.Val991Leu) c.3061-1692G>C (n.3061-1692G>C) c.2692G>C (p.Val898Leu) c.2731-1692G>C (n.2731-1692G>C) c.1774G>C (p.Val592Leu) n.3325G>C | |
13 | g.51944246C>T | CA6988807 | ATP7B | c.*894-1692G>A (n.*894-1692G>A) c.*1850G>A (n.*1850G>A) c.2485G>A (p.Val829Ile) c.3106G>A (p.Val1036Ile) c.2773G>A (p.Val925Ile) c.2854G>A (p.Val952Ile) c.2872G>A (p.Val958Ile) n.3245G>A n.3469G>A c.2041G>A (p.Val681Ile) c.1816G>A (p.Val606Ile) c.2911G>A (p.Val971Ile) n.326G>A c.1022-1692G>A c.*207G>A (n.*207G>A) n.3850G>A n.2451G>A c.2962G>A (p.Val988Ile) n.452G>A c.3010G>A (p.Val1004Ile) c.3070G>A (p.Val1024Ile) c.2620G>A (p.Val874Ile) c.922G>A (p.Val308Ile) c.877-1692G>A (n.877-1692G>A) c.2971G>A (p.Val991Ile) c.3061-1692G>A (n.3061-1692G>A) c.2692G>A (p.Val898Ile) c.2731-1692G>A (n.2731-1692G>A) c.1774G>A (p.Val592Ile) n.3325G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.51944247G>A | CA6988808 | ATP7B | c.*894-1693C>T (n.*894-1693C>T) c.*1849C>T (n.*1849C>T) c.2484C>T (p.Gly828=) c.3105C>T (p.Gly1035=) c.2772C>T (p.Gly924=) c.2853C>T (p.Gly951=) c.2871C>T (p.Gly957=) n.3244C>T n.3468C>T c.2040C>T (p.Gly680=) c.1815C>T (p.Gly605=) c.2910C>T (p.Gly970=) n.325C>T c.1022-1693C>T c.*206C>T (n.*206C>T) n.3849C>T n.2450C>T c.2961C>T (p.Gly987=) n.451C>T c.3009C>T (p.Gly1003=) c.3069C>T (p.Gly1023=) c.2619C>T (p.Gly873=) c.921C>T (p.Gly307=) c.877-1693C>T (n.877-1693C>T) c.2970C>T (p.Gly990=) c.3061-1693C>T (n.3061-1693C>T) c.2691C>T (p.Gly897=) c.2731-1693C>T (n.2731-1693C>T) c.1773C>T (p.Gly591=) n.3324C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944247G>C | CA483894747 | ATP7B | c.*894-1693C>G (n.*894-1693C>G) c.*1849C>G (n.*1849C>G) c.2484C>G (p.Gly828=) c.3105C>G (p.Gly1035=) c.2772C>G (p.Gly924=) c.2853C>G (p.Gly951=) c.2871C>G (p.Gly957=) n.3244C>G n.3468C>G c.2040C>G (p.Gly680=) c.1815C>G (p.Gly605=) c.2910C>G (p.Gly970=) n.325C>G c.1022-1693C>G c.*206C>G (n.*206C>G) n.3849C>G n.2450C>G c.2961C>G (p.Gly987=) n.451C>G c.3009C>G (p.Gly1003=) c.3069C>G (p.Gly1023=) c.2619C>G (p.Gly873=) c.921C>G (p.Gly307=) c.877-1693C>G (n.877-1693C>G) c.2970C>G (p.Gly990=) c.3061-1693C>G (n.3061-1693C>G) c.2691C>G (p.Gly897=) c.2731-1693C>G (n.2731-1693C>G) c.1773C>G (p.Gly591=) n.3324C>G | |
13 | g.51944247G= | CA2091564117 | ATP7B | c.*894-1693C= (n.*894-1693C=) c.*1849C= (n.*1849C=) c.2484C= (p.Gly828=) c.3105C= (p.Gly1035=) c.2772C= (p.Gly924=) c.2853C= (p.Gly951=) c.2871C= (p.Gly957=) n.3244C= n.3468C= c.2040C= (p.Gly680=) c.1815C= (p.Gly605=) c.2910C= (p.Gly970=) n.325C= c.1022-1693C= c.*206C= (n.*206C=) n.3849C= n.2450C= c.2961C= (p.Gly987=) n.451C= c.3009C= (p.Gly1003=) c.3069C= (p.Gly1023=) c.2619C= (p.Gly873=) c.921C= (p.Gly307=) c.877-1693C= (n.877-1693C=) c.2970C= (p.Gly990=) c.3061-1693C= (n.3061-1693C=) c.2691C= (p.Gly897=) c.2731-1693C= (n.2731-1693C=) c.1773C= (p.Gly591=) n.3324C= | |
13 | g.51944247G>T | CA483894748 | ATP7B | c.*894-1693C>A (n.*894-1693C>A) c.*1849C>A (n.*1849C>A) c.2484C>A (p.Gly828=) c.3105C>A (p.Gly1035=) c.2772C>A (p.Gly924=) c.2853C>A (p.Gly951=) c.2871C>A (p.Gly957=) n.3244C>A n.3468C>A c.2040C>A (p.Gly680=) c.1815C>A (p.Gly605=) c.2910C>A (p.Gly970=) n.325C>A c.1022-1693C>A c.*206C>A (n.*206C>A) n.3849C>A n.2450C>A c.2961C>A (p.Gly987=) n.451C>A c.3009C>A (p.Gly1003=) c.3069C>A (p.Gly1023=) c.2619C>A (p.Gly873=) c.921C>A (p.Gly307=) c.877-1693C>A (n.877-1693C>A) c.2970C>A (p.Gly990=) c.3061-1693C>A (n.3061-1693C>A) c.2691C>A (p.Gly897=) c.2731-1693C>A (n.2731-1693C>A) c.1773C>A (p.Gly591=) n.3324C>A | ClinVar dbSNP gnomAD v4 |
13 | g.51944247dup | CA2695218749 | ATP7B | c.*894-1693dup (n.*894-1693dup) c.*1849dup (n.*1849dup) c.2484dup (p.Val829ArgfsTer?) c.3105dup (p.Val1036ArgfsTer?) c.2772dup (p.Val925ArgfsTer?) c.2853dup (p.Val952ArgfsTer?) c.2871dup (p.Val958ArgfsTer?) n.3244dup n.3468dup c.2040dup (p.Val681ArgfsTer?) c.1815dup (p.Val606ArgfsTer?) c.2910dup (p.Val971ArgfsTer?) n.325dup c.1022-1693dup c.*206dup (n.*206dup) n.3849dup n.2450dup c.2961dup (p.Val988ArgfsTer?) n.451dup c.3009dup (p.Val1004ArgfsTer?) c.3069dup (p.Val1024ArgfsTer?) c.2619dup (p.Val874ArgfsTer?) c.921dup (p.Val308ArgfsTer?) c.877-1693dup (n.877-1693dup) c.2970dup (p.Val991ArgfsTer?) c.3061-1693dup (n.3061-1693dup) c.2691dup (p.Val898ArgfsTer?) c.2731-1693dup (n.2731-1693dup) c.1773dup (p.Val592ArgfsTer?) n.3324dup | |
13 | g.51944248C>A | CA16041666 | ATP7B | c.*894-1694G>T (n.*894-1694G>T) c.*1848G>T (n.*1848G>T) c.2483G>T (p.Gly828Val) c.3104G>T (p.Gly1035Val) c.2771G>T (p.Gly924Val) c.2852G>T (p.Gly951Val) c.2870G>T (p.Gly957Val) n.3243G>T n.3467G>T c.2039G>T (p.Gly680Val) c.1814G>T (p.Gly605Val) c.2909G>T (p.Gly970Val) n.324G>T c.1022-1694G>T c.*205G>T (n.*205G>T) n.3848G>T n.2449G>T c.2960G>T (p.Gly987Val) n.450G>T c.3008G>T (p.Gly1003Val) c.3068G>T (p.Gly1023Val) c.2618G>T (p.Gly873Val) c.920G>T (p.Gly307Val) c.877-1694G>T (n.877-1694G>T) c.2969G>T (p.Gly990Val) c.3061-1694G>T (n.3061-1694G>T) c.2690G>T (p.Gly897Val) c.2731-1694G>T (n.2731-1694G>T) c.1772G>T (p.Gly591Val) n.3323G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944248C= | CA2091564126 | ATP7B | c.*894-1694G= (n.*894-1694G=) c.*1848G= (n.*1848G=) c.2483G= (p.Gly828=) c.3104G= (p.Gly1035=) c.2771G= (p.Gly924=) c.2852G= (p.Gly951=) c.2870G= (p.Gly957=) n.3243G= n.3467G= c.2039G= (p.Gly680=) c.1814G= (p.Gly605=) c.2909G= (p.Gly970=) n.324G= c.1022-1694G= c.*205G= (n.*205G=) n.3848G= n.2449G= c.2960G= (p.Gly987=) n.450G= c.3008G= (p.Gly1003=) c.3068G= (p.Gly1023=) c.2618G= (p.Gly873=) c.920G= (p.Gly307=) c.877-1694G= (n.877-1694G=) c.2969G= (p.Gly990=) c.3061-1694G= (n.3061-1694G=) c.2690G= (p.Gly897=) c.2731-1694G= (n.2731-1694G=) c.1772G= (p.Gly591=) n.3323G= | |
13 | g.51944248C>G | CA388030434 | ATP7B | c.*894-1694G>C (n.*894-1694G>C) c.*1848G>C (n.*1848G>C) c.2483G>C (p.Gly828Ala) c.3104G>C (p.Gly1035Ala) c.2771G>C (p.Gly924Ala) c.2852G>C (p.Gly951Ala) c.2870G>C (p.Gly957Ala) n.3243G>C n.3467G>C c.2039G>C (p.Gly680Ala) c.1814G>C (p.Gly605Ala) c.2909G>C (p.Gly970Ala) n.324G>C c.1022-1694G>C c.*205G>C (n.*205G>C) n.3848G>C n.2449G>C c.2960G>C (p.Gly987Ala) n.450G>C c.3008G>C (p.Gly1003Ala) c.3068G>C (p.Gly1023Ala) c.2618G>C (p.Gly873Ala) c.920G>C (p.Gly307Ala) c.877-1694G>C (n.877-1694G>C) c.2969G>C (p.Gly990Ala) c.3061-1694G>C (n.3061-1694G>C) c.2690G>C (p.Gly897Ala) c.2731-1694G>C (n.2731-1694G>C) c.1772G>C (p.Gly591Ala) n.3323G>C | |
13 | g.51944248C>T | CA6988809 | ATP7B | c.*894-1694G>A (n.*894-1694G>A) c.*1848G>A (n.*1848G>A) c.2483G>A (p.Gly828Asp) c.3104G>A (p.Gly1035Asp) c.2771G>A (p.Gly924Asp) c.2852G>A (p.Gly951Asp) c.2870G>A (p.Gly957Asp) n.3243G>A n.3467G>A c.2039G>A (p.Gly680Asp) c.1814G>A (p.Gly605Asp) c.2909G>A (p.Gly970Asp) n.324G>A c.1022-1694G>A c.*205G>A (n.*205G>A) n.3848G>A n.2449G>A c.2960G>A (p.Gly987Asp) n.450G>A c.3008G>A (p.Gly1003Asp) c.3068G>A (p.Gly1023Asp) c.2618G>A (p.Gly873Asp) c.920G>A (p.Gly307Asp) c.877-1694G>A (n.877-1694G>A) c.2969G>A (p.Gly990Asp) c.3061-1694G>A (n.3061-1694G>A) c.2690G>A (p.Gly897Asp) c.2731-1694G>A (n.2731-1694G>A) c.1772G>A (p.Gly591Asp) n.3323G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944249C>A | CA388030438 | ATP7B | c.*894-1695G>T (n.*894-1695G>T) c.*1847G>T (n.*1847G>T) c.2482G>T (p.Gly828Cys) c.3103G>T (p.Gly1035Cys) c.2770G>T (p.Gly924Cys) c.2851G>T (p.Gly951Cys) c.2869G>T (p.Gly957Cys) n.3242G>T n.3466G>T c.2038G>T (p.Gly680Cys) c.1813G>T (p.Gly605Cys) c.2908G>T (p.Gly970Cys) n.323G>T c.1022-1695G>T c.*204G>T (n.*204G>T) n.3847G>T n.2448G>T c.2959G>T (p.Gly987Cys) n.449G>T c.3007G>T (p.Gly1003Cys) c.3067G>T (p.Gly1023Cys) c.2617G>T (p.Gly873Cys) c.919G>T (p.Gly307Cys) c.877-1695G>T (n.877-1695G>T) c.2968G>T (p.Gly990Cys) c.3061-1695G>T (n.3061-1695G>T) c.2689G>T (p.Gly897Cys) c.2731-1695G>T (n.2731-1695G>T) c.1771G>T (p.Gly591Cys) n.3322G>T | |
13 | g.51944249C>G | CA388030442 | ATP7B | c.*894-1695G>C (n.*894-1695G>C) c.*1847G>C (n.*1847G>C) c.2482G>C (p.Gly828Arg) c.3103G>C (p.Gly1035Arg) c.2770G>C (p.Gly924Arg) c.2851G>C (p.Gly951Arg) c.2869G>C (p.Gly957Arg) n.3242G>C n.3466G>C c.2038G>C (p.Gly680Arg) c.1813G>C (p.Gly605Arg) c.2908G>C (p.Gly970Arg) n.323G>C c.1022-1695G>C c.*204G>C (n.*204G>C) n.3847G>C n.2448G>C c.2959G>C (p.Gly987Arg) n.449G>C c.3007G>C (p.Gly1003Arg) c.3067G>C (p.Gly1023Arg) c.2617G>C (p.Gly873Arg) c.919G>C (p.Gly307Arg) c.877-1695G>C (n.877-1695G>C) c.2968G>C (p.Gly990Arg) c.3061-1695G>C (n.3061-1695G>C) c.2689G>C (p.Gly897Arg) c.2731-1695G>C (n.2731-1695G>C) c.1771G>C (p.Gly591Arg) n.3322G>C | |
13 | g.51944249C>T | CA388030443 | ATP7B | c.*894-1695G>A (n.*894-1695G>A) c.*1847G>A (n.*1847G>A) c.2482G>A (p.Gly828Ser) c.3103G>A (p.Gly1035Ser) c.2770G>A (p.Gly924Ser) c.2851G>A (p.Gly951Ser) c.2869G>A (p.Gly957Ser) n.3242G>A n.3466G>A c.2038G>A (p.Gly680Ser) c.1813G>A (p.Gly605Ser) c.2908G>A (p.Gly970Ser) n.323G>A c.1022-1695G>A c.*204G>A (n.*204G>A) n.3847G>A n.2448G>A c.2959G>A (p.Gly987Ser) n.449G>A c.3007G>A (p.Gly1003Ser) c.3067G>A (p.Gly1023Ser) c.2617G>A (p.Gly873Ser) c.919G>A (p.Gly307Ser) c.877-1695G>A (n.877-1695G>A) c.2968G>A (p.Gly990Ser) c.3061-1695G>A (n.3061-1695G>A) c.2689G>A (p.Gly897Ser) c.2731-1695G>A (n.2731-1695G>A) c.1771G>A (p.Gly591Ser) n.3322G>A | |
13 | g.51944250A= | CA2091564130 | ATP7B | c.*894-1696T= (n.*894-1696T=) c.*1846T= (n.*1846T=) c.2481T= (p.His827=) c.3102T= (p.His1034=) c.2769T= (p.His923=) c.2850T= (p.His950=) c.2868T= (p.His956=) n.3241T= n.3465T= c.2037T= (p.His679=) c.1812T= (p.His604=) c.2907T= (p.His969=) n.322T= c.1022-1696T= c.*203T= (n.*203T=) n.3846T= n.2447T= c.2958T= (p.His986=) n.448T= c.3006T= (p.His1002=) c.3066T= (p.His1022=) c.2616T= (p.His872=) c.918T= (p.His306=) c.877-1696T= (n.877-1696T=) c.2967T= (p.His989=) c.3061-1696T= (n.3061-1696T=) c.2688T= (p.His896=) c.2731-1696T= (n.2731-1696T=) c.1770T= (p.His590=) n.3321T= | |
13 | g.51944250A>C | CA388030444 | ATP7B | c.*894-1696T>G (n.*894-1696T>G) c.*1846T>G (n.*1846T>G) c.2481T>G (p.His827Gln) c.3102T>G (p.His1034Gln) c.2769T>G (p.His923Gln) c.2850T>G (p.His950Gln) c.2868T>G (p.His956Gln) n.3241T>G n.3465T>G c.2037T>G (p.His679Gln) c.1812T>G (p.His604Gln) c.2907T>G (p.His969Gln) n.322T>G c.1022-1696T>G c.*203T>G (n.*203T>G) n.3846T>G n.2447T>G c.2958T>G (p.His986Gln) n.448T>G c.3006T>G (p.His1002Gln) c.3066T>G (p.His1022Gln) c.2616T>G (p.His872Gln) c.918T>G (p.His306Gln) c.877-1696T>G (n.877-1696T>G) c.2967T>G (p.His989Gln) c.3061-1696T>G (n.3061-1696T>G) c.2688T>G (p.His896Gln) c.2731-1696T>G (n.2731-1696T>G) c.1770T>G (p.His590Gln) n.3321T>G | |
13 | g.51944250A>G | CA483894749 | ATP7B | c.*894-1696T>C (n.*894-1696T>C) c.*1846T>C (n.*1846T>C) c.2481T>C (p.His827=) c.3102T>C (p.His1034=) c.2769T>C (p.His923=) c.2850T>C (p.His950=) c.2868T>C (p.His956=) n.3241T>C n.3465T>C c.2037T>C (p.His679=) c.1812T>C (p.His604=) c.2907T>C (p.His969=) n.322T>C c.1022-1696T>C c.*203T>C (n.*203T>C) n.3846T>C n.2447T>C c.2958T>C (p.His986=) n.448T>C c.3006T>C (p.His1002=) c.3066T>C (p.His1022=) c.2616T>C (p.His872=) c.918T>C (p.His306=) c.877-1696T>C (n.877-1696T>C) c.2967T>C (p.His989=) c.3061-1696T>C (n.3061-1696T>C) c.2688T>C (p.His896=) c.2731-1696T>C (n.2731-1696T>C) c.1770T>C (p.His590=) n.3321T>C | |
13 | g.51944250A>T | CA388030445 | ATP7B | c.*894-1696T>A (n.*894-1696T>A) c.*1846T>A (n.*1846T>A) c.2481T>A (p.His827Gln) c.3102T>A (p.His1034Gln) c.2769T>A (p.His923Gln) c.2850T>A (p.His950Gln) c.2868T>A (p.His956Gln) n.3241T>A n.3465T>A c.2037T>A (p.His679Gln) c.1812T>A (p.His604Gln) c.2907T>A (p.His969Gln) n.322T>A c.1022-1696T>A c.*203T>A (n.*203T>A) n.3846T>A n.2447T>A c.2958T>A (p.His986Gln) n.448T>A c.3006T>A (p.His1002Gln) c.3066T>A (p.His1022Gln) c.2616T>A (p.His872Gln) c.918T>A (p.His306Gln) c.877-1696T>A (n.877-1696T>A) c.2967T>A (p.His989Gln) c.3061-1696T>A (n.3061-1696T>A) c.2688T>A (p.His896Gln) c.2731-1696T>A (n.2731-1696T>A) c.1770T>A (p.His590Gln) n.3321T>A | |
13 | g.51944251T>A | CA388030446 | ATP7B | c.*894-1697A>T (n.*894-1697A>T) c.*1845A>T (n.*1845A>T) c.2480A>T (p.His827Leu) c.3101A>T (p.His1034Leu) c.2768A>T (p.His923Leu) c.2849A>T (p.His950Leu) c.2867A>T (p.His956Leu) n.3240A>T n.3464A>T c.2036A>T (p.His679Leu) c.1811A>T (p.His604Leu) c.2906A>T (p.His969Leu) n.321A>T c.1022-1697A>T c.*202A>T (n.*202A>T) n.3845A>T n.2446A>T c.2957A>T (p.His986Leu) n.447A>T c.3005A>T (p.His1002Leu) c.3065A>T (p.His1022Leu) c.2615A>T (p.His872Leu) c.917A>T (p.His306Leu) c.877-1697A>T (n.877-1697A>T) c.2966A>T (p.His989Leu) c.3061-1697A>T (n.3061-1697A>T) c.2687A>T (p.His896Leu) c.2731-1697A>T (n.2731-1697A>T) c.1769A>T (p.His590Leu) n.3320A>T | |
13 | g.51944251T>C | CA260138 | ATP7B | c.*894-1697A>G (n.*894-1697A>G) c.*1845A>G (n.*1845A>G) c.2480A>G (p.His827Arg) c.3101A>G (p.His1034Arg) c.2768A>G (p.His923Arg) c.2849A>G (p.His950Arg) c.2867A>G (p.His956Arg) n.3240A>G n.3464A>G c.2036A>G (p.His679Arg) c.1811A>G (p.His604Arg) c.2906A>G (p.His969Arg) n.321A>G c.1022-1697A>G c.*202A>G (n.*202A>G) n.3845A>G n.2446A>G c.2957A>G (p.His986Arg) n.447A>G c.3005A>G (p.His1002Arg) c.3065A>G (p.His1022Arg) c.2615A>G (p.His872Arg) c.917A>G (p.His306Arg) c.877-1697A>G (n.877-1697A>G) c.2966A>G (p.His989Arg) c.3061-1697A>G (n.3061-1697A>G) c.2687A>G (p.His896Arg) c.2731-1697A>G (n.2731-1697A>G) c.1769A>G (p.His590Arg) n.3320A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944251T>G | CA388030449 | ATP7B | c.*894-1697A>C (n.*894-1697A>C) c.*1845A>C (n.*1845A>C) c.2480A>C (p.His827Pro) c.3101A>C (p.His1034Pro) c.2768A>C (p.His923Pro) c.2849A>C (p.His950Pro) c.2867A>C (p.His956Pro) n.3240A>C n.3464A>C c.2036A>C (p.His679Pro) c.1811A>C (p.His604Pro) c.2906A>C (p.His969Pro) n.321A>C c.1022-1697A>C c.*202A>C (n.*202A>C) n.3845A>C n.2446A>C c.2957A>C (p.His986Pro) n.447A>C c.3005A>C (p.His1002Pro) c.3065A>C (p.His1022Pro) c.2615A>C (p.His872Pro) c.917A>C (p.His306Pro) c.877-1697A>C (n.877-1697A>C) c.2966A>C (p.His989Pro) c.3061-1697A>C (n.3061-1697A>C) c.2687A>C (p.His896Pro) c.2731-1697A>C (n.2731-1697A>C) c.1769A>C (p.His590Pro) n.3320A>C | |
13 | g.51944251T= | CA2091564141 | ATP7B | c.*894-1697A= (n.*894-1697A=) c.*1845A= (n.*1845A=) c.2480A= (p.His827=) c.3101A= (p.His1034=) c.2768A= (p.His923=) c.2849A= (p.His950=) c.2867A= (p.His956=) n.3240A= n.3464A= c.2036A= (p.His679=) c.1811A= (p.His604=) c.2906A= (p.His969=) n.321A= c.1022-1697A= c.*202A= (n.*202A=) n.3845A= n.2446A= c.2957A= (p.His986=) n.447A= c.3005A= (p.His1002=) c.3065A= (p.His1022=) c.2615A= (p.His872=) c.917A= (p.His306=) c.877-1697A= (n.877-1697A=) c.2966A= (p.His989=) c.3061-1697A= (n.3061-1697A=) c.2687A= (p.His896=) c.2731-1697A= (n.2731-1697A=) c.1769A= (p.His590=) n.3320A= | |
13 | g.51944251dup | CA1139663303 | ATP7B | c.*894-1697dup (n.*894-1697dup) c.*1845dup (n.*1845dup) c.2480dup (p.His827GlnfsTer?) c.3101dup (p.His1034GlnfsTer?) c.2768dup (p.His923GlnfsTer?) c.2849dup (p.His950GlnfsTer?) c.2867dup (p.His956GlnfsTer?) n.3240dup n.3464dup c.2036dup (p.His679GlnfsTer?) c.1811dup (p.His604GlnfsTer?) c.2906dup (p.His969GlnfsTer?) n.321dup c.1022-1697dup c.*202dup (n.*202dup) n.3845dup n.2446dup c.2957dup (p.His986GlnfsTer?) n.447dup c.3005dup (p.His1002GlnfsTer?) c.3065dup (p.His1022GlnfsTer?) c.2615dup (p.His872GlnfsTer?) c.917dup (p.His306GlnfsTer?) c.877-1697dup (n.877-1697dup) c.2966dup (p.His989GlnfsTer?) c.3061-1697dup (n.3061-1697dup) c.2687dup (p.His896GlnfsTer?) c.2731-1697dup (n.2731-1697dup) c.1769dup (p.His590GlnfsTer?) n.3320dup | ClinVar dbSNP |
13 | g.51944252G>A | CA388030454 | ATP7B | c.*894-1698C>T (n.*894-1698C>T) c.*1844C>T (n.*1844C>T) c.2479C>T (p.His827Tyr) c.3100C>T (p.His1034Tyr) c.2767C>T (p.His923Tyr) c.2848C>T (p.His950Tyr) c.2866C>T (p.His956Tyr) n.3239C>T n.3463C>T c.2035C>T (p.His679Tyr) c.1810C>T (p.His604Tyr) c.2905C>T (p.His969Tyr) n.320C>T c.1022-1698C>T c.*201C>T (n.*201C>T) n.3844C>T n.2445C>T c.2956C>T (p.His986Tyr) n.446C>T c.3004C>T (p.His1002Tyr) c.3064C>T (p.His1022Tyr) c.2614C>T (p.His872Tyr) c.916C>T (p.His306Tyr) c.877-1698C>T (n.877-1698C>T) c.2965C>T (p.His989Tyr) c.3061-1698C>T (n.3061-1698C>T) c.2686C>T (p.His896Tyr) c.2731-1698C>T (n.2731-1698C>T) c.1768C>T (p.His590Tyr) n.3319C>T | |
13 | g.51944252G>C | CA388030457 | ATP7B | c.*894-1698C>G (n.*894-1698C>G) c.*1844C>G (n.*1844C>G) c.2479C>G (p.His827Asp) c.3100C>G (p.His1034Asp) c.2767C>G (p.His923Asp) c.2848C>G (p.His950Asp) c.2866C>G (p.His956Asp) n.3239C>G n.3463C>G c.2035C>G (p.His679Asp) c.1810C>G (p.His604Asp) c.2905C>G (p.His969Asp) n.320C>G c.1022-1698C>G c.*201C>G (n.*201C>G) n.3844C>G n.2445C>G c.2956C>G (p.His986Asp) n.446C>G c.3004C>G (p.His1002Asp) c.3064C>G (p.His1022Asp) c.2614C>G (p.His872Asp) c.916C>G (p.His306Asp) c.877-1698C>G (n.877-1698C>G) c.2965C>G (p.His989Asp) c.3061-1698C>G (n.3061-1698C>G) c.2686C>G (p.His896Asp) c.2731-1698C>G (n.2731-1698C>G) c.1768C>G (p.His590Asp) n.3319C>G | gnomAD v4 |
13 | g.51944252G= | CA2091564149 | ATP7B | c.*894-1698C= (n.*894-1698C=) c.*1844C= (n.*1844C=) c.2479C= (p.His827=) c.3100C= (p.His1034=) c.2767C= (p.His923=) c.2848C= (p.His950=) c.2866C= (p.His956=) n.3239C= n.3463C= c.2035C= (p.His679=) c.1810C= (p.His604=) c.2905C= (p.His969=) n.320C= c.1022-1698C= c.*201C= (n.*201C=) n.3844C= n.2445C= c.2956C= (p.His986=) n.446C= c.3004C= (p.His1002=) c.3064C= (p.His1022=) c.2614C= (p.His872=) c.916C= (p.His306=) c.877-1698C= (n.877-1698C=) c.2965C= (p.His989=) c.3061-1698C= (n.3061-1698C=) c.2686C= (p.His896=) c.2731-1698C= (n.2731-1698C=) c.1768C= (p.His590=) n.3319C= | |
13 | g.51944252G>T | CA388030462 | ATP7B | c.*894-1698C>A (n.*894-1698C>A) c.*1844C>A (n.*1844C>A) c.2479C>A (p.His827Asn) c.3100C>A (p.His1034Asn) c.2767C>A (p.His923Asn) c.2848C>A (p.His950Asn) c.2866C>A (p.His956Asn) n.3239C>A n.3463C>A c.2035C>A (p.His679Asn) c.1810C>A (p.His604Asn) c.2905C>A (p.His969Asn) n.320C>A c.1022-1698C>A c.*201C>A (n.*201C>A) n.3844C>A n.2445C>A c.2956C>A (p.His986Asn) n.446C>A c.3004C>A (p.His1002Asn) c.3064C>A (p.His1022Asn) c.2614C>A (p.His872Asn) c.916C>A (p.His306Asn) c.877-1698C>A (n.877-1698C>A) c.2965C>A (p.His989Asn) c.3061-1698C>A (n.3061-1698C>A) c.2686C>A (p.His896Asn) c.2731-1698C>A (n.2731-1698C>A) c.1768C>A (p.His590Asn) n.3319C>A | |
13 | g.51944253G>A | CA483894750 | ATP7B | c.*894-1699C>T (n.*894-1699C>T) c.*1843C>T (n.*1843C>T) c.2478C>T (p.Thr826=) c.3099C>T (p.Thr1033=) c.2766C>T (p.Thr922=) c.2847C>T (p.Thr949=) c.2865C>T (p.Thr955=) n.3238C>T n.3462C>T c.2034C>T (p.Thr678=) c.1809C>T (p.Thr603=) c.2904C>T (p.Thr968=) n.319C>T c.1022-1699C>T c.*200C>T (n.*200C>T) n.3843C>T n.2444C>T c.2955C>T (p.Thr985=) n.445C>T c.3003C>T (p.Thr1001=) c.3063C>T (p.Thr1021=) c.2613C>T (p.Thr871=) c.915C>T (p.Thr305=) c.877-1699C>T (n.877-1699C>T) c.2964C>T (p.Thr988=) c.3061-1699C>T (n.3061-1699C>T) c.2685C>T (p.Thr895=) c.2731-1699C>T (n.2731-1699C>T) c.1767C>T (p.Thr589=) n.3318C>T | ClinVar |
13 | g.51944253G>C | CA483894751 | ATP7B | c.*894-1699C>G (n.*894-1699C>G) c.*1843C>G (n.*1843C>G) c.2478C>G (p.Thr826=) c.3099C>G (p.Thr1033=) c.2766C>G (p.Thr922=) c.2847C>G (p.Thr949=) c.2865C>G (p.Thr955=) n.3238C>G n.3462C>G c.2034C>G (p.Thr678=) c.1809C>G (p.Thr603=) c.2904C>G (p.Thr968=) n.319C>G c.1022-1699C>G c.*200C>G (n.*200C>G) n.3843C>G n.2444C>G c.2955C>G (p.Thr985=) n.445C>G c.3003C>G (p.Thr1001=) c.3063C>G (p.Thr1021=) c.2613C>G (p.Thr871=) c.915C>G (p.Thr305=) c.877-1699C>G (n.877-1699C>G) c.2964C>G (p.Thr988=) c.3061-1699C>G (n.3061-1699C>G) c.2685C>G (p.Thr895=) c.2731-1699C>G (n.2731-1699C>G) c.1767C>G (p.Thr589=) n.3318C>G | |
13 | g.51944253G>T | CA483894752 | ATP7B | c.*894-1699C>A (n.*894-1699C>A) c.*1843C>A (n.*1843C>A) c.2478C>A (p.Thr826=) c.3099C>A (p.Thr1033=) c.2766C>A (p.Thr922=) c.2847C>A (p.Thr949=) c.2865C>A (p.Thr955=) n.3238C>A n.3462C>A c.2034C>A (p.Thr678=) c.1809C>A (p.Thr603=) c.2904C>A (p.Thr968=) n.319C>A c.1022-1699C>A c.*200C>A (n.*200C>A) n.3843C>A n.2444C>A c.2955C>A (p.Thr985=) n.445C>A c.3003C>A (p.Thr1001=) c.3063C>A (p.Thr1021=) c.2613C>A (p.Thr871=) c.915C>A (p.Thr305=) c.877-1699C>A (n.877-1699C>A) c.2964C>A (p.Thr988=) c.3061-1699C>A (n.3061-1699C>A) c.2685C>A (p.Thr895=) c.2731-1699C>A (n.2731-1699C>A) c.1767C>A (p.Thr589=) n.3318C>A | |
13 | g.51944256_51944261dup | CA2091564158 | ATP7B | c.*894-1704_*894-1699dup (n.*894-1704_*894-1699dup) c.*1838_*1843dup (n.*1838_*1843dup) c.2473_2478dup (p.Thr826_His827insIleThr) c.3094_3099dup (p.Thr1033_His1034insIleThr) c.2761_2766dup (p.Thr922_His923insIleThr) c.2842_2847dup (p.Thr949_His950insIleThr) c.2860_2865dup (p.Thr955_His956insIleThr) n.3233_3238dup n.3457_3462dup c.2029_2034dup (p.Thr678_His679insIleThr) c.1804_1809dup (p.Thr603_His604insIleThr) c.2899_2904dup (p.Thr968_His969insIleThr) n.314_319dup c.1022-1704_1022-1699dup c.*195_*200dup (n.*195_*200dup) n.3838_3843dup n.2439_2444dup c.2950_2955dup (p.Thr985_His986insIleThr) n.440_445dup c.2998_3003dup (p.Thr1001_His1002insIleThr) c.3058_3063dup (p.Thr1021_His1022insIleThr) c.2608_2613dup (p.Thr871_His872insIleThr) c.910_915dup (p.Thr305_His306insIleThr) c.877-1704_877-1699dup (n.877-1704_877-1699dup) c.2959_2964dup (p.Thr988_His989insIleThr) c.3061-1704_3061-1699dup (n.3061-1704_3061-1699dup) c.2680_2685dup (p.Thr895_His896insIleThr) c.2731-1704_2731-1699dup (n.2731-1704_2731-1699dup) c.1762_1767dup (p.Thr589_His590insIleThr) n.3313_3318dup | dbSNP |
13 | g.51944254G>A | CA388030475 | ATP7B | c.*894-1700C>T (n.*894-1700C>T) c.*1842C>T (n.*1842C>T) c.2477C>T (p.Thr826Ile) c.3098C>T (p.Thr1033Ile) c.2765C>T (p.Thr922Ile) c.2846C>T (p.Thr949Ile) c.2864C>T (p.Thr955Ile) n.3237C>T n.3461C>T c.2033C>T (p.Thr678Ile) c.1808C>T (p.Thr603Ile) c.2903C>T (p.Thr968Ile) n.318C>T c.1022-1700C>T c.*199C>T (n.*199C>T) n.3842C>T n.2443C>T c.2954C>T (p.Thr985Ile) n.444C>T c.3002C>T (p.Thr1001Ile) c.3062C>T (p.Thr1021Ile) c.2612C>T (p.Thr871Ile) c.914C>T (p.Thr305Ile) c.877-1700C>T (n.877-1700C>T) c.2963C>T (p.Thr988Ile) c.3061-1700C>T (n.3061-1700C>T) c.2684C>T (p.Thr895Ile) c.2731-1700C>T (n.2731-1700C>T) c.1766C>T (p.Thr589Ile) n.3317C>T | |
13 | g.51944254G>C | CA388030494 | ATP7B | c.*894-1700C>G (n.*894-1700C>G) c.*1842C>G (n.*1842C>G) c.2477C>G (p.Thr826Ser) c.3098C>G (p.Thr1033Ser) c.2765C>G (p.Thr922Ser) c.2846C>G (p.Thr949Ser) c.2864C>G (p.Thr955Ser) n.3237C>G n.3461C>G c.2033C>G (p.Thr678Ser) c.1808C>G (p.Thr603Ser) c.2903C>G (p.Thr968Ser) n.318C>G c.1022-1700C>G c.*199C>G (n.*199C>G) n.3842C>G n.2443C>G c.2954C>G (p.Thr985Ser) n.444C>G c.3002C>G (p.Thr1001Ser) c.3062C>G (p.Thr1021Ser) c.2612C>G (p.Thr871Ser) c.914C>G (p.Thr305Ser) c.877-1700C>G (n.877-1700C>G) c.2963C>G (p.Thr988Ser) c.3061-1700C>G (n.3061-1700C>G) c.2684C>G (p.Thr895Ser) c.2731-1700C>G (n.2731-1700C>G) c.1766C>G (p.Thr589Ser) n.3317C>G | |
13 | g.51944254G>T | CA388030472 | ATP7B | c.*894-1700C>A (n.*894-1700C>A) c.*1842C>A (n.*1842C>A) c.2477C>A (p.Thr826Asn) c.3098C>A (p.Thr1033Asn) c.2765C>A (p.Thr922Asn) c.2846C>A (p.Thr949Asn) c.2864C>A (p.Thr955Asn) n.3237C>A n.3461C>A c.2033C>A (p.Thr678Asn) c.1808C>A (p.Thr603Asn) c.2903C>A (p.Thr968Asn) n.318C>A c.1022-1700C>A c.*199C>A (n.*199C>A) n.3842C>A n.2443C>A c.2954C>A (p.Thr985Asn) n.444C>A c.3002C>A (p.Thr1001Asn) c.3062C>A (p.Thr1021Asn) c.2612C>A (p.Thr871Asn) c.914C>A (p.Thr305Asn) c.877-1700C>A (n.877-1700C>A) c.2963C>A (p.Thr988Asn) c.3061-1700C>A (n.3061-1700C>A) c.2684C>A (p.Thr895Asn) c.2731-1700C>A (n.2731-1700C>A) c.1766C>A (p.Thr589Asn) n.3317C>A | |
13 | g.51944255T>A | CA388030498 | ATP7B | c.*894-1701A>T (n.*894-1701A>T) c.*1841A>T (n.*1841A>T) c.2476A>T (p.Thr826Ser) c.3097A>T (p.Thr1033Ser) c.2764A>T (p.Thr922Ser) c.2845A>T (p.Thr949Ser) c.2863A>T (p.Thr955Ser) n.3236A>T n.3460A>T c.2032A>T (p.Thr678Ser) c.1807A>T (p.Thr603Ser) c.2902A>T (p.Thr968Ser) n.317A>T c.1022-1701A>T c.*198A>T (n.*198A>T) n.3841A>T n.2442A>T c.2953A>T (p.Thr985Ser) n.443A>T c.3001A>T (p.Thr1001Ser) c.3061A>T (p.Thr1021Ser) c.2611A>T (p.Thr871Ser) c.913A>T (p.Thr305Ser) c.877-1701A>T (n.877-1701A>T) c.2962A>T (p.Thr988Ser) c.3061-1701A>T (n.3061-1701A>T) c.2683A>T (p.Thr895Ser) c.2731-1701A>T (n.2731-1701A>T) c.1765A>T (p.Thr589Ser) n.3316A>T | |
13 | g.51944255T>C | CA388030499 | ATP7B | c.*894-1701A>G (n.*894-1701A>G) c.*1841A>G (n.*1841A>G) c.2476A>G (p.Thr826Ala) c.3097A>G (p.Thr1033Ala) c.2764A>G (p.Thr922Ala) c.2845A>G (p.Thr949Ala) c.2863A>G (p.Thr955Ala) n.3236A>G n.3460A>G c.2032A>G (p.Thr678Ala) c.1807A>G (p.Thr603Ala) c.2902A>G (p.Thr968Ala) n.317A>G c.1022-1701A>G c.*198A>G (n.*198A>G) n.3841A>G n.2442A>G c.2953A>G (p.Thr985Ala) n.443A>G c.3001A>G (p.Thr1001Ala) c.3061A>G (p.Thr1021Ala) c.2611A>G (p.Thr871Ala) c.913A>G (p.Thr305Ala) c.877-1701A>G (n.877-1701A>G) c.2962A>G (p.Thr988Ala) c.3061-1701A>G (n.3061-1701A>G) c.2683A>G (p.Thr895Ala) c.2731-1701A>G (n.2731-1701A>G) c.1765A>G (p.Thr589Ala) n.3316A>G | ClinVar dbSNP |
13 | g.51944255T>G | CA388030500 | ATP7B | c.*894-1701A>C (n.*894-1701A>C) c.*1841A>C (n.*1841A>C) c.2476A>C (p.Thr826Pro) c.3097A>C (p.Thr1033Pro) c.2764A>C (p.Thr922Pro) c.2845A>C (p.Thr949Pro) c.2863A>C (p.Thr955Pro) n.3236A>C n.3460A>C c.2032A>C (p.Thr678Pro) c.1807A>C (p.Thr603Pro) c.2902A>C (p.Thr968Pro) n.317A>C c.1022-1701A>C c.*198A>C (n.*198A>C) n.3841A>C n.2442A>C c.2953A>C (p.Thr985Pro) n.443A>C c.3001A>C (p.Thr1001Pro) c.3061A>C (p.Thr1021Pro) c.2611A>C (p.Thr871Pro) c.913A>C (p.Thr305Pro) c.877-1701A>C (n.877-1701A>C) c.2962A>C (p.Thr988Pro) c.3061-1701A>C (n.3061-1701A>C) c.2683A>C (p.Thr895Pro) c.2731-1701A>C (n.2731-1701A>C) c.1765A>C (p.Thr589Pro) n.3316A>C | |
13 | g.51944255T= | CA2091564166 | ATP7B | c.*894-1701A= (n.*894-1701A=) c.*1841A= (n.*1841A=) c.2476A= (p.Thr826=) c.3097A= (p.Thr1033=) c.2764A= (p.Thr922=) c.2845A= (p.Thr949=) c.2863A= (p.Thr955=) n.3236A= n.3460A= c.2032A= (p.Thr678=) c.1807A= (p.Thr603=) c.2902A= (p.Thr968=) n.317A= c.1022-1701A= c.*198A= (n.*198A=) n.3841A= n.2442A= c.2953A= (p.Thr985=) n.443A= c.3001A= (p.Thr1001=) c.3061A= (p.Thr1021=) c.2611A= (p.Thr871=) c.913A= (p.Thr305=) c.877-1701A= (n.877-1701A=) c.2962A= (p.Thr988=) c.3061-1701A= (n.3061-1701A=) c.2683A= (p.Thr895=) c.2731-1701A= (n.2731-1701A=) c.1765A= (p.Thr589=) n.3316A= | |
13 | g.51944256A>C | CA388030501 | ATP7B | c.*894-1702T>G (n.*894-1702T>G) c.*1840T>G (n.*1840T>G) c.2475T>G (p.Ile825Met) c.3096T>G (p.Ile1032Met) c.2763T>G (p.Ile921Met) c.2844T>G (p.Ile948Met) c.2862T>G (p.Ile954Met) n.3235T>G n.3459T>G c.2031T>G (p.Ile677Met) c.1806T>G (p.Ile602Met) c.2901T>G (p.Ile967Met) n.316T>G c.1022-1702T>G c.*197T>G (n.*197T>G) n.3840T>G n.2441T>G c.2952T>G (p.Ile984Met) n.442T>G c.3000T>G (p.Ile1000Met) c.3060T>G (p.Ile1020Met) c.2610T>G (p.Ile870Met) c.912T>G (p.Ile304Met) c.877-1702T>G (n.877-1702T>G) c.2961T>G (p.Ile987Met) c.3061-1702T>G (n.3061-1702T>G) c.2682T>G (p.Ile894Met) c.2731-1702T>G (n.2731-1702T>G) c.1764T>G (p.Ile588Met) n.3315T>G | |
13 | g.51944256A>G | CA483894754 | ATP7B | c.*894-1702T>C (n.*894-1702T>C) c.*1840T>C (n.*1840T>C) c.2475T>C (p.Ile825=) c.3096T>C (p.Ile1032=) c.2763T>C (p.Ile921=) c.2844T>C (p.Ile948=) c.2862T>C (p.Ile954=) n.3235T>C n.3459T>C c.2031T>C (p.Ile677=) c.1806T>C (p.Ile602=) c.2901T>C (p.Ile967=) n.316T>C c.1022-1702T>C c.*197T>C (n.*197T>C) n.3840T>C n.2441T>C c.2952T>C (p.Ile984=) n.442T>C c.3000T>C (p.Ile1000=) c.3060T>C (p.Ile1020=) c.2610T>C (p.Ile870=) c.912T>C (p.Ile304=) c.877-1702T>C (n.877-1702T>C) c.2961T>C (p.Ile987=) c.3061-1702T>C (n.3061-1702T>C) c.2682T>C (p.Ile894=) c.2731-1702T>C (n.2731-1702T>C) c.1764T>C (p.Ile588=) n.3315T>C | gnomAD v4 |
13 | g.51944256A>T | CA483894753 | ATP7B | c.*894-1702T>A (n.*894-1702T>A) c.*1840T>A (n.*1840T>A) c.2475T>A (p.Ile825=) c.3096T>A (p.Ile1032=) c.2763T>A (p.Ile921=) c.2844T>A (p.Ile948=) c.2862T>A (p.Ile954=) n.3235T>A n.3459T>A c.2031T>A (p.Ile677=) c.1806T>A (p.Ile602=) c.2901T>A (p.Ile967=) n.316T>A c.1022-1702T>A c.*197T>A (n.*197T>A) n.3840T>A n.2441T>A c.2952T>A (p.Ile984=) n.442T>A c.3000T>A (p.Ile1000=) c.3060T>A (p.Ile1020=) c.2610T>A (p.Ile870=) c.912T>A (p.Ile304=) c.877-1702T>A (n.877-1702T>A) c.2961T>A (p.Ile987=) c.3061-1702T>A (n.3061-1702T>A) c.2682T>A (p.Ile894=) c.2731-1702T>A (n.2731-1702T>A) c.1764T>A (p.Ile588=) n.3315T>A | |
13 | g.51944257A>C | CA388030504 | ATP7B | c.*894-1703T>G (n.*894-1703T>G) c.*1839T>G (n.*1839T>G) c.2474T>G (p.Ile825Ser) c.3095T>G (p.Ile1032Ser) c.2762T>G (p.Ile921Ser) c.2843T>G (p.Ile948Ser) c.2861T>G (p.Ile954Ser) n.3234T>G n.3458T>G c.2030T>G (p.Ile677Ser) c.1805T>G (p.Ile602Ser) c.2900T>G (p.Ile967Ser) n.315T>G c.1022-1703T>G c.*196T>G (n.*196T>G) n.3839T>G n.2440T>G c.2951T>G (p.Ile984Ser) n.441T>G c.2999T>G (p.Ile1000Ser) c.3059T>G (p.Ile1020Ser) c.2609T>G (p.Ile870Ser) c.911T>G (p.Ile304Ser) c.877-1703T>G (n.877-1703T>G) c.2960T>G (p.Ile987Ser) c.3061-1703T>G (n.3061-1703T>G) c.2681T>G (p.Ile894Ser) c.2731-1703T>G (n.2731-1703T>G) c.1763T>G (p.Ile588Ser) n.3314T>G | |
13 | g.51944257A>G | CA388030503 | ATP7B | c.*894-1703T>C (n.*894-1703T>C) c.*1839T>C (n.*1839T>C) c.2474T>C (p.Ile825Thr) c.3095T>C (p.Ile1032Thr) c.2762T>C (p.Ile921Thr) c.2843T>C (p.Ile948Thr) c.2861T>C (p.Ile954Thr) n.3234T>C n.3458T>C c.2030T>C (p.Ile677Thr) c.1805T>C (p.Ile602Thr) c.2900T>C (p.Ile967Thr) n.315T>C c.1022-1703T>C c.*196T>C (n.*196T>C) n.3839T>C n.2440T>C c.2951T>C (p.Ile984Thr) n.441T>C c.2999T>C (p.Ile1000Thr) c.3059T>C (p.Ile1020Thr) c.2609T>C (p.Ile870Thr) c.911T>C (p.Ile304Thr) c.877-1703T>C (n.877-1703T>C) c.2960T>C (p.Ile987Thr) c.3061-1703T>C (n.3061-1703T>C) c.2681T>C (p.Ile894Thr) c.2731-1703T>C (n.2731-1703T>C) c.1763T>C (p.Ile588Thr) n.3314T>C | gnomAD v4 |
13 | g.51944257A>T | CA388030502 | ATP7B | c.*894-1703T>A (n.*894-1703T>A) c.*1839T>A (n.*1839T>A) c.2474T>A (p.Ile825Asn) c.3095T>A (p.Ile1032Asn) c.2762T>A (p.Ile921Asn) c.2843T>A (p.Ile948Asn) c.2861T>A (p.Ile954Asn) n.3234T>A n.3458T>A c.2030T>A (p.Ile677Asn) c.1805T>A (p.Ile602Asn) c.2900T>A (p.Ile967Asn) n.315T>A c.1022-1703T>A c.*196T>A (n.*196T>A) n.3839T>A n.2440T>A c.2951T>A (p.Ile984Asn) n.441T>A c.2999T>A (p.Ile1000Asn) c.3059T>A (p.Ile1020Asn) c.2609T>A (p.Ile870Asn) c.911T>A (p.Ile304Asn) c.877-1703T>A (n.877-1703T>A) c.2960T>A (p.Ile987Asn) c.3061-1703T>A (n.3061-1703T>A) c.2681T>A (p.Ile894Asn) c.2731-1703T>A (n.2731-1703T>A) c.1763T>A (p.Ile588Asn) n.3314T>A | |
13 | g.51944258T>A | CA388030505 | ATP7B | c.*894-1704A>T (n.*894-1704A>T) c.*1838A>T (n.*1838A>T) c.2473A>T (p.Ile825Phe) c.3094A>T (p.Ile1032Phe) c.2761A>T (p.Ile921Phe) c.2842A>T (p.Ile948Phe) c.2860A>T (p.Ile954Phe) n.3233A>T n.3457A>T c.2029A>T (p.Ile677Phe) c.1804A>T (p.Ile602Phe) c.2899A>T (p.Ile967Phe) n.314A>T c.1022-1704A>T c.*195A>T (n.*195A>T) n.3838A>T n.2439A>T c.2950A>T (p.Ile984Phe) n.440A>T c.2998A>T (p.Ile1000Phe) c.3058A>T (p.Ile1020Phe) c.2608A>T (p.Ile870Phe) c.910A>T (p.Ile304Phe) c.877-1704A>T (n.877-1704A>T) c.2959A>T (p.Ile987Phe) c.3061-1704A>T (n.3061-1704A>T) c.2680A>T (p.Ile894Phe) c.2731-1704A>T (n.2731-1704A>T) c.1762A>T (p.Ile588Phe) n.3313A>T | |
13 | g.51944258T>C | CA6988810 | ATP7B | c.*894-1704A>G (n.*894-1704A>G) c.*1838A>G (n.*1838A>G) c.2473A>G (p.Ile825Val) c.3094A>G (p.Ile1032Val) c.2761A>G (p.Ile921Val) c.2842A>G (p.Ile948Val) c.2860A>G (p.Ile954Val) n.3233A>G n.3457A>G c.2029A>G (p.Ile677Val) c.1804A>G (p.Ile602Val) c.2899A>G (p.Ile967Val) n.314A>G c.1022-1704A>G c.*195A>G (n.*195A>G) n.3838A>G n.2439A>G c.2950A>G (p.Ile984Val) n.440A>G c.2998A>G (p.Ile1000Val) c.3058A>G (p.Ile1020Val) c.2608A>G (p.Ile870Val) c.910A>G (p.Ile304Val) c.877-1704A>G (n.877-1704A>G) c.2959A>G (p.Ile987Val) c.3061-1704A>G (n.3061-1704A>G) c.2680A>G (p.Ile894Val) c.2731-1704A>G (n.2731-1704A>G) c.1762A>G (p.Ile588Val) n.3313A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944258T>G | CA388030509 | ATP7B | c.*894-1704A>C (n.*894-1704A>C) c.*1838A>C (n.*1838A>C) c.2473A>C (p.Ile825Leu) c.3094A>C (p.Ile1032Leu) c.2761A>C (p.Ile921Leu) c.2842A>C (p.Ile948Leu) c.2860A>C (p.Ile954Leu) n.3233A>C n.3457A>C c.2029A>C (p.Ile677Leu) c.1804A>C (p.Ile602Leu) c.2899A>C (p.Ile967Leu) n.314A>C c.1022-1704A>C c.*195A>C (n.*195A>C) n.3838A>C n.2439A>C c.2950A>C (p.Ile984Leu) n.440A>C c.2998A>C (p.Ile1000Leu) c.3058A>C (p.Ile1020Leu) c.2608A>C (p.Ile870Leu) c.910A>C (p.Ile304Leu) c.877-1704A>C (n.877-1704A>C) c.2959A>C (p.Ile987Leu) c.3061-1704A>C (n.3061-1704A>C) c.2680A>C (p.Ile894Leu) c.2731-1704A>C (n.2731-1704A>C) c.1762A>C (p.Ile588Leu) n.3313A>C | |
13 | g.51944258T= | CA2091564174 | ATP7B | c.*894-1704A= (n.*894-1704A=) c.*1838A= (n.*1838A=) c.2473A= (p.Ile825=) c.3094A= (p.Ile1032=) c.2761A= (p.Ile921=) c.2842A= (p.Ile948=) c.2860A= (p.Ile954=) n.3233A= n.3457A= c.2029A= (p.Ile677=) c.1804A= (p.Ile602=) c.2899A= (p.Ile967=) n.314A= c.1022-1704A= c.*195A= (n.*195A=) n.3838A= n.2439A= c.2950A= (p.Ile984=) n.440A= c.2998A= (p.Ile1000=) c.3058A= (p.Ile1020=) c.2608A= (p.Ile870=) c.910A= (p.Ile304=) c.877-1704A= (n.877-1704A=) c.2959A= (p.Ile987=) c.3061-1704A= (n.3061-1704A=) c.2680A= (p.Ile894=) c.2731-1704A= (n.2731-1704A=) c.1762A= (p.Ile588=) n.3313A= | |
13 | g.51944259G>A | CA483894755 | ATP7B | c.*894-1705C>T (n.*894-1705C>T) c.*1837C>T (n.*1837C>T) c.2472C>T (p.Thr824=) c.3093C>T (p.Thr1031=) c.2760C>T (p.Thr920=) c.2841C>T (p.Thr947=) c.2859C>T (p.Thr953=) n.3232C>T n.3456C>T c.2028C>T (p.Thr676=) c.1803C>T (p.Thr601=) c.2898C>T (p.Thr966=) n.313C>T c.1022-1705C>T c.*194C>T (n.*194C>T) n.3837C>T n.2438C>T c.2949C>T (p.Thr983=) n.439C>T c.2997C>T (p.Thr999=) c.3057C>T (p.Thr1019=) c.2607C>T (p.Thr869=) c.909C>T (p.Thr303=) c.877-1705C>T (n.877-1705C>T) c.2958C>T (p.Thr986=) c.3061-1705C>T (n.3061-1705C>T) c.2679C>T (p.Thr893=) c.2731-1705C>T (n.2731-1705C>T) c.1761C>T (p.Thr587=) n.3312C>T | |
13 | g.51944259G>C | CA483894756 | ATP7B | c.*894-1705C>G (n.*894-1705C>G) c.*1837C>G (n.*1837C>G) c.2472C>G (p.Thr824=) c.3093C>G (p.Thr1031=) c.2760C>G (p.Thr920=) c.2841C>G (p.Thr947=) c.2859C>G (p.Thr953=) n.3232C>G n.3456C>G c.2028C>G (p.Thr676=) c.1803C>G (p.Thr601=) c.2898C>G (p.Thr966=) n.313C>G c.1022-1705C>G c.*194C>G (n.*194C>G) n.3837C>G n.2438C>G c.2949C>G (p.Thr983=) n.439C>G c.2997C>G (p.Thr999=) c.3057C>G (p.Thr1019=) c.2607C>G (p.Thr869=) c.909C>G (p.Thr303=) c.877-1705C>G (n.877-1705C>G) c.2958C>G (p.Thr986=) c.3061-1705C>G (n.3061-1705C>G) c.2679C>G (p.Thr893=) c.2731-1705C>G (n.2731-1705C>G) c.1761C>G (p.Thr587=) n.3312C>G | gnomAD v4 |
13 | g.51944259G>T | CA483894757 | ATP7B | c.*894-1705C>A (n.*894-1705C>A) c.*1837C>A (n.*1837C>A) c.2472C>A (p.Thr824=) c.3093C>A (p.Thr1031=) c.2760C>A (p.Thr920=) c.2841C>A (p.Thr947=) c.2859C>A (p.Thr953=) n.3232C>A n.3456C>A c.2028C>A (p.Thr676=) c.1803C>A (p.Thr601=) c.2898C>A (p.Thr966=) n.313C>A c.1022-1705C>A c.*194C>A (n.*194C>A) n.3837C>A n.2438C>A c.2949C>A (p.Thr983=) n.439C>A c.2997C>A (p.Thr999=) c.3057C>A (p.Thr1019=) c.2607C>A (p.Thr869=) c.909C>A (p.Thr303=) c.877-1705C>A (n.877-1705C>A) c.2958C>A (p.Thr986=) c.3061-1705C>A (n.3061-1705C>A) c.2679C>A (p.Thr893=) c.2731-1705C>A (n.2731-1705C>A) c.1761C>A (p.Thr587=) n.3312C>A | COSMIC |
13 | g.51944260G>A | CA388030514 | ATP7B | c.*894-1706C>T (n.*894-1706C>T) c.*1836C>T (n.*1836C>T) c.2471C>T (p.Thr824Ile) c.3092C>T (p.Thr1031Ile) c.2759C>T (p.Thr920Ile) c.2840C>T (p.Thr947Ile) c.2858C>T (p.Thr953Ile) n.3231C>T n.3455C>T c.2027C>T (p.Thr676Ile) c.1802C>T (p.Thr601Ile) c.2897C>T (p.Thr966Ile) n.312C>T c.1022-1706C>T c.*193C>T (n.*193C>T) n.3836C>T n.2437C>T c.2948C>T (p.Thr983Ile) n.438C>T c.2996C>T (p.Thr999Ile) c.3056C>T (p.Thr1019Ile) c.2606C>T (p.Thr869Ile) c.908C>T (p.Thr303Ile) c.877-1706C>T (n.877-1706C>T) c.2957C>T (p.Thr986Ile) c.3061-1706C>T (n.3061-1706C>T) c.2678C>T (p.Thr893Ile) c.2731-1706C>T (n.2731-1706C>T) c.1760C>T (p.Thr587Ile) n.3311C>T | |
13 | g.51944260G>C | CA388030515 | ATP7B | c.*894-1706C>G (n.*894-1706C>G) c.*1836C>G (n.*1836C>G) c.2471C>G (p.Thr824Ser) c.3092C>G (p.Thr1031Ser) c.2759C>G (p.Thr920Ser) c.2840C>G (p.Thr947Ser) c.2858C>G (p.Thr953Ser) n.3231C>G n.3455C>G c.2027C>G (p.Thr676Ser) c.1802C>G (p.Thr601Ser) c.2897C>G (p.Thr966Ser) n.312C>G c.1022-1706C>G c.*193C>G (n.*193C>G) n.3836C>G n.2437C>G c.2948C>G (p.Thr983Ser) n.438C>G c.2996C>G (p.Thr999Ser) c.3056C>G (p.Thr1019Ser) c.2606C>G (p.Thr869Ser) c.908C>G (p.Thr303Ser) c.877-1706C>G (n.877-1706C>G) c.2957C>G (p.Thr986Ser) c.3061-1706C>G (n.3061-1706C>G) c.2678C>G (p.Thr893Ser) c.2731-1706C>G (n.2731-1706C>G) c.1760C>G (p.Thr587Ser) n.3311C>G | |
13 | g.51944260G>T | CA388030518 | ATP7B | c.*894-1706C>A (n.*894-1706C>A) c.*1836C>A (n.*1836C>A) c.2471C>A (p.Thr824Asn) c.3092C>A (p.Thr1031Asn) c.2759C>A (p.Thr920Asn) c.2840C>A (p.Thr947Asn) c.2858C>A (p.Thr953Asn) n.3231C>A n.3455C>A c.2027C>A (p.Thr676Asn) c.1802C>A (p.Thr601Asn) c.2897C>A (p.Thr966Asn) n.312C>A c.1022-1706C>A c.*193C>A (n.*193C>A) n.3836C>A n.2437C>A c.2948C>A (p.Thr983Asn) n.438C>A c.2996C>A (p.Thr999Asn) c.3056C>A (p.Thr1019Asn) c.2606C>A (p.Thr869Asn) c.908C>A (p.Thr303Asn) c.877-1706C>A (n.877-1706C>A) c.2957C>A (p.Thr986Asn) c.3061-1706C>A (n.3061-1706C>A) c.2678C>A (p.Thr893Asn) c.2731-1706C>A (n.2731-1706C>A) c.1760C>A (p.Thr587Asn) n.3311C>A | |
13 | g.51944261T>A | CA388030520 | ATP7B | c.*894-1707A>T (n.*894-1707A>T) c.*1835A>T (n.*1835A>T) c.2470A>T (p.Thr824Ser) c.3091A>T (p.Thr1031Ser) c.2758A>T (p.Thr920Ser) c.2839A>T (p.Thr947Ser) c.2857A>T (p.Thr953Ser) n.3230A>T n.3454A>T c.2026A>T (p.Thr676Ser) c.1801A>T (p.Thr601Ser) c.2896A>T (p.Thr966Ser) n.311A>T c.1022-1707A>T c.*192A>T (n.*192A>T) n.3835A>T n.2436A>T c.2947A>T (p.Thr983Ser) n.437A>T c.2995A>T (p.Thr999Ser) c.3055A>T (p.Thr1019Ser) c.2605A>T (p.Thr869Ser) c.907A>T (p.Thr303Ser) c.877-1707A>T (n.877-1707A>T) c.2956A>T (p.Thr986Ser) c.3061-1707A>T (n.3061-1707A>T) c.2677A>T (p.Thr893Ser) c.2731-1707A>T (n.2731-1707A>T) c.1759A>T (p.Thr587Ser) n.3310A>T | |
13 | g.51944261T>C | CA388030527 | ATP7B | c.*894-1707A>G (n.*894-1707A>G) c.*1835A>G (n.*1835A>G) c.2470A>G (p.Thr824Ala) c.3091A>G (p.Thr1031Ala) c.2758A>G (p.Thr920Ala) c.2839A>G (p.Thr947Ala) c.2857A>G (p.Thr953Ala) n.3230A>G n.3454A>G c.2026A>G (p.Thr676Ala) c.1801A>G (p.Thr601Ala) c.2896A>G (p.Thr966Ala) n.311A>G c.1022-1707A>G c.*192A>G (n.*192A>G) n.3835A>G n.2436A>G c.2947A>G (p.Thr983Ala) n.437A>G c.2995A>G (p.Thr999Ala) c.3055A>G (p.Thr1019Ala) c.2605A>G (p.Thr869Ala) c.907A>G (p.Thr303Ala) c.877-1707A>G (n.877-1707A>G) c.2956A>G (p.Thr986Ala) c.3061-1707A>G (n.3061-1707A>G) c.2677A>G (p.Thr893Ala) c.2731-1707A>G (n.2731-1707A>G) c.1759A>G (p.Thr587Ala) n.3310A>G | |
13 | g.51944261T>G | CA388030524 | ATP7B | c.*894-1707A>C (n.*894-1707A>C) c.*1835A>C (n.*1835A>C) c.2470A>C (p.Thr824Pro) c.3091A>C (p.Thr1031Pro) c.2758A>C (p.Thr920Pro) c.2839A>C (p.Thr947Pro) c.2857A>C (p.Thr953Pro) n.3230A>C n.3454A>C c.2026A>C (p.Thr676Pro) c.1801A>C (p.Thr601Pro) c.2896A>C (p.Thr966Pro) n.311A>C c.1022-1707A>C c.*192A>C (n.*192A>C) n.3835A>C n.2436A>C c.2947A>C (p.Thr983Pro) n.437A>C c.2995A>C (p.Thr999Pro) c.3055A>C (p.Thr1019Pro) c.2605A>C (p.Thr869Pro) c.907A>C (p.Thr303Pro) c.877-1707A>C (n.877-1707A>C) c.2956A>C (p.Thr986Pro) c.3061-1707A>C (n.3061-1707A>C) c.2677A>C (p.Thr893Pro) c.2731-1707A>C (n.2731-1707A>C) c.1759A>C (p.Thr587Pro) n.3310A>C | |
13 | g.51944262G>A | CA6988811 | ATP7B | c.*894-1708C>T (n.*894-1708C>T) c.*1834C>T (n.*1834C>T) c.2469C>T (p.Gly823=) c.3090C>T (p.Gly1030=) c.2757C>T (p.Gly919=) c.2838C>T (p.Gly946=) c.2856C>T (p.Gly952=) n.3229C>T n.3453C>T c.2025C>T (p.Gly675=) c.1800C>T (p.Gly600=) c.2895C>T (p.Gly965=) n.310C>T c.1022-1708C>T c.*191C>T (n.*191C>T) n.3834C>T n.2435C>T c.2946C>T (p.Gly982=) n.436C>T c.2994C>T (p.Gly998=) c.3054C>T (p.Gly1018=) c.2604C>T (p.Gly868=) c.906C>T (p.Gly302=) c.877-1708C>T (n.877-1708C>T) c.2955C>T (p.Gly985=) c.3061-1708C>T (n.3061-1708C>T) c.2676C>T (p.Gly892=) c.2731-1708C>T (n.2731-1708C>T) c.1758C>T (p.Gly586=) n.3309C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944262G>C | CA483894759 | ATP7B | c.*894-1708C>G (n.*894-1708C>G) c.*1834C>G (n.*1834C>G) c.2469C>G (p.Gly823=) c.3090C>G (p.Gly1030=) c.2757C>G (p.Gly919=) c.2838C>G (p.Gly946=) c.2856C>G (p.Gly952=) n.3229C>G n.3453C>G c.2025C>G (p.Gly675=) c.1800C>G (p.Gly600=) c.2895C>G (p.Gly965=) n.310C>G c.1022-1708C>G c.*191C>G (n.*191C>G) n.3834C>G n.2435C>G c.2946C>G (p.Gly982=) n.436C>G c.2994C>G (p.Gly998=) c.3054C>G (p.Gly1018=) c.2604C>G (p.Gly868=) c.906C>G (p.Gly302=) c.877-1708C>G (n.877-1708C>G) c.2955C>G (p.Gly985=) c.3061-1708C>G (n.3061-1708C>G) c.2676C>G (p.Gly892=) c.2731-1708C>G (n.2731-1708C>G) c.1758C>G (p.Gly586=) n.3309C>G | |
13 | g.51944262G= | CA2091564179 | ATP7B | c.*894-1708C= (n.*894-1708C=) c.*1834C= (n.*1834C=) c.2469C= (p.Gly823=) c.3090C= (p.Gly1030=) c.2757C= (p.Gly919=) c.2838C= (p.Gly946=) c.2856C= (p.Gly952=) n.3229C= n.3453C= c.2025C= (p.Gly675=) c.1800C= (p.Gly600=) c.2895C= (p.Gly965=) n.310C= c.1022-1708C= c.*191C= (n.*191C=) n.3834C= n.2435C= c.2946C= (p.Gly982=) n.436C= c.2994C= (p.Gly998=) c.3054C= (p.Gly1018=) c.2604C= (p.Gly868=) c.906C= (p.Gly302=) c.877-1708C= (n.877-1708C=) c.2955C= (p.Gly985=) c.3061-1708C= (n.3061-1708C=) c.2676C= (p.Gly892=) c.2731-1708C= (n.2731-1708C=) c.1758C= (p.Gly586=) n.3309C= | |
13 | g.51944262G>T | CA483894758 | ATP7B | c.*894-1708C>A (n.*894-1708C>A) c.*1834C>A (n.*1834C>A) c.2469C>A (p.Gly823=) c.3090C>A (p.Gly1030=) c.2757C>A (p.Gly919=) c.2838C>A (p.Gly946=) c.2856C>A (p.Gly952=) n.3229C>A n.3453C>A c.2025C>A (p.Gly675=) c.1800C>A (p.Gly600=) c.2895C>A (p.Gly965=) n.310C>A c.1022-1708C>A c.*191C>A (n.*191C>A) n.3834C>A n.2435C>A c.2946C>A (p.Gly982=) n.436C>A c.2994C>A (p.Gly998=) c.3054C>A (p.Gly1018=) c.2604C>A (p.Gly868=) c.906C>A (p.Gly302=) c.877-1708C>A (n.877-1708C>A) c.2955C>A (p.Gly985=) c.3061-1708C>A (n.3061-1708C>A) c.2676C>A (p.Gly892=) c.2731-1708C>A (n.2731-1708C>A) c.1758C>A (p.Gly586=) n.3309C>A | |
13 | g.51944263C>A | CA388030533 | ATP7B | c.*894-1709G>T (n.*894-1709G>T) c.*1833G>T (n.*1833G>T) c.2468G>T (p.Gly823Val) c.3089G>T (p.Gly1030Val) c.2756G>T (p.Gly919Val) c.2837G>T (p.Gly946Val) c.2855G>T (p.Gly952Val) n.3228G>T n.3452G>T c.2024G>T (p.Gly675Val) c.1799G>T (p.Gly600Val) c.2894G>T (p.Gly965Val) n.309G>T c.1022-1709G>T c.*190G>T (n.*190G>T) n.3833G>T n.2434G>T c.2945G>T (p.Gly982Val) n.435G>T c.2993G>T (p.Gly998Val) c.3053G>T (p.Gly1018Val) c.2603G>T (p.Gly868Val) c.905G>T (p.Gly302Val) c.877-1709G>T (n.877-1709G>T) c.2954G>T (p.Gly985Val) c.3061-1709G>T (n.3061-1709G>T) c.2675G>T (p.Gly892Val) c.2731-1709G>T (n.2731-1709G>T) c.1757G>T (p.Gly586Val) n.3308G>T | ClinVar |
13 | g.51944263C>G | CA388030528 | ATP7B | c.*894-1709G>C (n.*894-1709G>C) c.*1833G>C (n.*1833G>C) c.2468G>C (p.Gly823Ala) c.3089G>C (p.Gly1030Ala) c.2756G>C (p.Gly919Ala) c.2837G>C (p.Gly946Ala) c.2855G>C (p.Gly952Ala) n.3228G>C n.3452G>C c.2024G>C (p.Gly675Ala) c.1799G>C (p.Gly600Ala) c.2894G>C (p.Gly965Ala) n.309G>C c.1022-1709G>C c.*190G>C (n.*190G>C) n.3833G>C n.2434G>C c.2945G>C (p.Gly982Ala) n.435G>C c.2993G>C (p.Gly998Ala) c.3053G>C (p.Gly1018Ala) c.2603G>C (p.Gly868Ala) c.905G>C (p.Gly302Ala) c.877-1709G>C (n.877-1709G>C) c.2954G>C (p.Gly985Ala) c.3061-1709G>C (n.3061-1709G>C) c.2675G>C (p.Gly892Ala) c.2731-1709G>C (n.2731-1709G>C) c.1757G>C (p.Gly586Ala) n.3308G>C | |
13 | g.51944263C>T | CA388030529 | ATP7B | c.*894-1709G>A (n.*894-1709G>A) c.*1833G>A (n.*1833G>A) c.2468G>A (p.Gly823Asp) c.3089G>A (p.Gly1030Asp) c.2756G>A (p.Gly919Asp) c.2837G>A (p.Gly946Asp) c.2855G>A (p.Gly952Asp) n.3228G>A n.3452G>A c.2024G>A (p.Gly675Asp) c.1799G>A (p.Gly600Asp) c.2894G>A (p.Gly965Asp) n.309G>A c.1022-1709G>A c.*190G>A (n.*190G>A) n.3833G>A n.2434G>A c.2945G>A (p.Gly982Asp) n.435G>A c.2993G>A (p.Gly998Asp) c.3053G>A (p.Gly1018Asp) c.2603G>A (p.Gly868Asp) c.905G>A (p.Gly302Asp) c.877-1709G>A (n.877-1709G>A) c.2954G>A (p.Gly985Asp) c.3061-1709G>A (n.3061-1709G>A) c.2675G>A (p.Gly892Asp) c.2731-1709G>A (n.2731-1709G>A) c.1757G>A (p.Gly586Asp) n.3308G>A | ClinVar dbSNP |
13 | g.51944264C>A | CA388030543 | ATP7B | c.*894-1710G>T (n.*894-1710G>T) c.*1832G>T (n.*1832G>T) c.2467G>T (p.Gly823Cys) c.3088G>T (p.Gly1030Cys) c.2755G>T (p.Gly919Cys) c.2836G>T (p.Gly946Cys) c.2854G>T (p.Gly952Cys) n.3227G>T n.3451G>T c.2023G>T (p.Gly675Cys) c.1798G>T (p.Gly600Cys) c.2893G>T (p.Gly965Cys) n.308G>T c.1022-1710G>T c.*189G>T (n.*189G>T) n.3832G>T n.2433G>T c.2944G>T (p.Gly982Cys) n.434G>T c.2992G>T (p.Gly998Cys) c.3052G>T (p.Gly1018Cys) c.2602G>T (p.Gly868Cys) c.904G>T (p.Gly302Cys) c.877-1710G>T (n.877-1710G>T) c.2953G>T (p.Gly985Cys) c.3061-1710G>T (n.3061-1710G>T) c.2674G>T (p.Gly892Cys) c.2731-1710G>T (n.2731-1710G>T) c.1756G>T (p.Gly586Cys) n.3307G>T | |
13 | g.51944264C= | CA2091564186 | ATP7B | c.*894-1710G= (n.*894-1710G=) c.*1832G= (n.*1832G=) c.2467G= (p.Gly823=) c.3088G= (p.Gly1030=) c.2755G= (p.Gly919=) c.2836G= (p.Gly946=) c.2854G= (p.Gly952=) n.3227G= n.3451G= c.2023G= (p.Gly675=) c.1798G= (p.Gly600=) c.2893G= (p.Gly965=) n.308G= c.1022-1710G= c.*189G= (n.*189G=) n.3832G= n.2433G= c.2944G= (p.Gly982=) n.434G= c.2992G= (p.Gly998=) c.3052G= (p.Gly1018=) c.2602G= (p.Gly868=) c.904G= (p.Gly302=) c.877-1710G= (n.877-1710G=) c.2953G= (p.Gly985=) c.3061-1710G= (n.3061-1710G=) c.2674G= (p.Gly892=) c.2731-1710G= (n.2731-1710G=) c.1756G= (p.Gly586=) n.3307G= | |
13 | g.51944264C>G | CA388030547 | ATP7B | c.*894-1710G>C (n.*894-1710G>C) c.*1832G>C (n.*1832G>C) c.2467G>C (p.Gly823Arg) c.3088G>C (p.Gly1030Arg) c.2755G>C (p.Gly919Arg) c.2836G>C (p.Gly946Arg) c.2854G>C (p.Gly952Arg) n.3227G>C n.3451G>C c.2023G>C (p.Gly675Arg) c.1798G>C (p.Gly600Arg) c.2893G>C (p.Gly965Arg) n.308G>C c.1022-1710G>C c.*189G>C (n.*189G>C) n.3832G>C n.2433G>C c.2944G>C (p.Gly982Arg) n.434G>C c.2992G>C (p.Gly998Arg) c.3052G>C (p.Gly1018Arg) c.2602G>C (p.Gly868Arg) c.904G>C (p.Gly302Arg) c.877-1710G>C (n.877-1710G>C) c.2953G>C (p.Gly985Arg) c.3061-1710G>C (n.3061-1710G>C) c.2674G>C (p.Gly892Arg) c.2731-1710G>C (n.2731-1710G>C) c.1756G>C (p.Gly586Arg) n.3307G>C | |
13 | g.51944264C>T | CA388030552 | ATP7B | c.*894-1710G>A (n.*894-1710G>A) c.*1832G>A (n.*1832G>A) c.2467G>A (p.Gly823Ser) c.3088G>A (p.Gly1030Ser) c.2755G>A (p.Gly919Ser) c.2836G>A (p.Gly946Ser) c.2854G>A (p.Gly952Ser) n.3227G>A n.3451G>A c.2023G>A (p.Gly675Ser) c.1798G>A (p.Gly600Ser) c.2893G>A (p.Gly965Ser) n.308G>A c.1022-1710G>A c.*189G>A (n.*189G>A) n.3832G>A n.2433G>A c.2944G>A (p.Gly982Ser) n.434G>A c.2992G>A (p.Gly998Ser) c.3052G>A (p.Gly1018Ser) c.2602G>A (p.Gly868Ser) c.904G>A (p.Gly302Ser) c.877-1710G>A (n.877-1710G>A) c.2953G>A (p.Gly985Ser) c.3061-1710G>A (n.3061-1710G>A) c.2674G>A (p.Gly892Ser) c.2731-1710G>A (n.2731-1710G>A) c.1756G>A (p.Gly586Ser) n.3307G>A | ClinVar dbSNP gnomAD v4 |