Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.51946306_51946309dup | CA2623117202 | ATP7B | c.*870_*873dup (n.*870_*873dup) c.*1781_*1784dup (n.*1781_*1784dup) c.2416_2419dup (p.Pro807GlnfsTer15) c.3037_3040dup (p.Pro1014GlnfsTer15) c.2704_2707dup (p.Pro903GlnfsTer15) c.2785_2788dup (p.Pro930GlnfsTer15) c.2803_2806dup (p.Pro936GlnfsTer15) n.1184_1187dup n.3400_3403dup c.1972_1975dup (p.Pro659GlnfsTer15) c.1747_1750dup (p.Pro584GlnfsTer15) c.2866-2016_2866-2013dup (n.2866-2016_2866-2013dup) n.257_260dup c.998_1001dup c.*138_*141dup (n.*138_*141dup) n.3781_3784dup n.2382_2385dup c.2893_2896dup (p.Pro966GlnfsTer15) n.383_386dup c.2941_2944dup (p.Pro982GlnfsTer15) c.3001_3004dup (p.Pro1002GlnfsTer15) c.2551_2554dup (p.Pro852GlnfsTer15) c.853_856dup (p.Pro286GlnfsTer15) c.853_856dup (p.Pro286GlnfsTer?) c.2902_2905dup (p.Pro969GlnfsTer15) c.3037_3040dup (p.Pro1014GlnfsTer?) c.2623_2626dup (p.Pro876GlnfsTer15) c.2730+3700_2730+3703dup (n.2730+3700_2730+3703dup) c.1705_1708dup (p.Pro570GlnfsTer15) n.3256_3259dup | gnomAD v4 |
13 | g.51946306T>A | CA388031854 | ATP7B | c.*871A>T (n.*871A>T) c.*1782A>T (n.*1782A>T) c.2417A>T (p.Lys806Met) c.3038A>T (p.Lys1013Met) c.2705A>T (p.Lys902Met) c.2786A>T (p.Lys929Met) c.2804A>T (p.Lys935Met) n.1185A>T n.3401A>T c.1973A>T (p.Lys658Met) c.1748A>T (p.Lys583Met) c.2866-2015A>T (n.2866-2015A>T) n.258A>T c.999A>T c.*139A>T (n.*139A>T) n.3782A>T n.2383A>T c.2894A>T (p.Lys965Met) n.384A>T c.2942A>T (p.Lys981Met) c.3002A>T (p.Lys1001Met) c.2552A>T (p.Lys851Met) c.854A>T (p.Lys285Met) c.2903A>T (p.Lys968Met) c.2624A>T (p.Lys875Met) c.2730+3701A>T (n.2730+3701A>T) c.1706A>T (p.Lys569Met) n.3257A>T | |
13 | g.51946306T>C | CA250082037 | ATP7B | c.*871A>G (n.*871A>G) c.*1782A>G (n.*1782A>G) c.2417A>G (p.Lys806Arg) c.3038A>G (p.Lys1013Arg) c.2705A>G (p.Lys902Arg) c.2786A>G (p.Lys929Arg) c.2804A>G (p.Lys935Arg) n.1185A>G n.3401A>G c.1973A>G (p.Lys658Arg) c.1748A>G (p.Lys583Arg) c.2866-2015A>G (n.2866-2015A>G) n.258A>G c.999A>G c.*139A>G (n.*139A>G) n.3782A>G n.2383A>G c.2894A>G (p.Lys965Arg) n.384A>G c.2942A>G (p.Lys981Arg) c.3002A>G (p.Lys1001Arg) c.2552A>G (p.Lys851Arg) c.854A>G (p.Lys285Arg) c.2903A>G (p.Lys968Arg) c.2624A>G (p.Lys875Arg) c.2730+3701A>G (n.2730+3701A>G) c.1706A>G (p.Lys569Arg) n.3257A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946306T>G | CA388031848 | ATP7B | c.*871A>C (n.*871A>C) c.*1782A>C (n.*1782A>C) c.2417A>C (p.Lys806Thr) c.3038A>C (p.Lys1013Thr) c.2705A>C (p.Lys902Thr) c.2786A>C (p.Lys929Thr) c.2804A>C (p.Lys935Thr) n.1185A>C n.3401A>C c.1973A>C (p.Lys658Thr) c.1748A>C (p.Lys583Thr) c.2866-2015A>C (n.2866-2015A>C) n.258A>C c.999A>C c.*139A>C (n.*139A>C) n.3782A>C n.2383A>C c.2894A>C (p.Lys965Thr) n.384A>C c.2942A>C (p.Lys981Thr) c.3002A>C (p.Lys1001Thr) c.2552A>C (p.Lys851Thr) c.854A>C (p.Lys285Thr) c.2903A>C (p.Lys968Thr) c.2624A>C (p.Lys875Thr) c.2730+3701A>C (n.2730+3701A>C) c.1706A>C (p.Lys569Thr) n.3257A>C | |
13 | g.51946306T= | CA2091566128 | ATP7B | c.*871A= (n.*871A=) c.*1782A= (n.*1782A=) c.2417A= (p.Lys806=) c.3038A= (p.Lys1013=) c.2705A= (p.Lys902=) c.2786A= (p.Lys929=) c.2804A= (p.Lys935=) n.1185A= n.3401A= c.1973A= (p.Lys658=) c.1748A= (p.Lys583=) c.2866-2015A= (n.2866-2015A=) n.258A= c.999A= c.*139A= (n.*139A=) n.3782A= n.2383A= c.2894A= (p.Lys965=) n.384A= c.2942A= (p.Lys981=) c.3002A= (p.Lys1001=) c.2552A= (p.Lys851=) c.854A= (p.Lys285=) c.2903A= (p.Lys968=) c.2624A= (p.Lys875=) c.2730+3701A= (n.2730+3701A=) c.1706A= (p.Lys569=) n.3257A= | |
13 | g.51946307T>A | CA388031858 | ATP7B | c.*870A>T (n.*870A>T) c.*1781A>T (n.*1781A>T) c.2416A>T (p.Lys806Ter) c.3037A>T (p.Lys1013Ter) c.2704A>T (p.Lys902Ter) c.2785A>T (p.Lys929Ter) c.2803A>T (p.Lys935Ter) n.1184A>T n.3400A>T c.1972A>T (p.Lys658Ter) c.1747A>T (p.Lys583Ter) c.2866-2016A>T (n.2866-2016A>T) n.257A>T c.998A>T c.*138A>T (n.*138A>T) n.3781A>T n.2382A>T c.2893A>T (p.Lys965Ter) n.383A>T c.2941A>T (p.Lys981Ter) c.3001A>T (p.Lys1001Ter) c.2551A>T (p.Lys851Ter) c.853A>T (p.Lys285Ter) c.2902A>T (p.Lys968Ter) c.2623A>T (p.Lys875Ter) c.2730+3700A>T (n.2730+3700A>T) c.1705A>T (p.Lys569Ter) n.3256A>T | |
13 | g.51946307T>C | CA388031860 | ATP7B | c.*870A>G (n.*870A>G) c.*1781A>G (n.*1781A>G) c.2416A>G (p.Lys806Glu) c.3037A>G (p.Lys1013Glu) c.2704A>G (p.Lys902Glu) c.2785A>G (p.Lys929Glu) c.2803A>G (p.Lys935Glu) n.1184A>G n.3400A>G c.1972A>G (p.Lys658Glu) c.1747A>G (p.Lys583Glu) c.2866-2016A>G (n.2866-2016A>G) n.257A>G c.998A>G c.*138A>G (n.*138A>G) n.3781A>G n.2382A>G c.2893A>G (p.Lys965Glu) n.383A>G c.2941A>G (p.Lys981Glu) c.3001A>G (p.Lys1001Glu) c.2551A>G (p.Lys851Glu) c.853A>G (p.Lys285Glu) c.2902A>G (p.Lys968Glu) c.2623A>G (p.Lys875Glu) c.2730+3700A>G (n.2730+3700A>G) c.1705A>G (p.Lys569Glu) n.3256A>G | |
13 | g.51946307T>G | CA388031862 | ATP7B | c.*870A>C (n.*870A>C) c.*1781A>C (n.*1781A>C) c.2416A>C (p.Lys806Gln) c.3037A>C (p.Lys1013Gln) c.2704A>C (p.Lys902Gln) c.2785A>C (p.Lys929Gln) c.2803A>C (p.Lys935Gln) n.1184A>C n.3400A>C c.1972A>C (p.Lys658Gln) c.1747A>C (p.Lys583Gln) c.2866-2016A>C (n.2866-2016A>C) n.257A>C c.998A>C c.*138A>C (n.*138A>C) n.3781A>C n.2382A>C c.2893A>C (p.Lys965Gln) n.383A>C c.2941A>C (p.Lys981Gln) c.3001A>C (p.Lys1001Gln) c.2551A>C (p.Lys851Gln) c.853A>C (p.Lys285Gln) c.2902A>C (p.Lys968Gln) c.2623A>C (p.Lys875Gln) c.2730+3700A>C (n.2730+3700A>C) c.1705A>C (p.Lys569Gln) n.3256A>C | |
13 | g.51946307T= | CA2091566129 | ATP7B | c.*870A= (n.*870A=) c.*1781A= (n.*1781A=) c.2416A= (p.Lys806=) c.3037A= (p.Lys1013=) c.2704A= (p.Lys902=) c.2785A= (p.Lys929=) c.2803A= (p.Lys935=) n.1184A= n.3400A= c.1972A= (p.Lys658=) c.1747A= (p.Lys583=) c.2866-2016A= (n.2866-2016A=) n.257A= c.998A= c.*138A= (n.*138A=) n.3781A= n.2382A= c.2893A= (p.Lys965=) n.383A= c.2941A= (p.Lys981=) c.3001A= (p.Lys1001=) c.2551A= (p.Lys851=) c.853A= (p.Lys285=) c.2902A= (p.Lys968=) c.2623A= (p.Lys875=) c.2730+3700A= (n.2730+3700A=) c.1705A= (p.Lys569=) n.3256A= | |
13 | g.51946308G>A | CA483894874 | ATP7B | c.*869C>T (n.*869C>T) c.*1780C>T (n.*1780C>T) c.2415C>T (p.Gly805=) c.3036C>T (p.Gly1012=) c.2703C>T (p.Gly901=) c.2784C>T (p.Gly928=) c.2802C>T (p.Gly934=) n.1183C>T n.3399C>T c.1971C>T (p.Gly657=) c.1746C>T (p.Gly582=) c.2866-2017C>T (n.2866-2017C>T) n.256C>T c.997C>T c.*137C>T (n.*137C>T) n.3780C>T n.2381C>T c.2892C>T (p.Gly964=) n.382C>T c.2940C>T (p.Gly980=) c.3000C>T (p.Gly1000=) c.2550C>T (p.Gly850=) c.852C>T (p.Gly284=) c.2901C>T (p.Gly967=) c.2622C>T (p.Gly874=) c.2730+3699C>T (n.2730+3699C>T) c.1704C>T (p.Gly568=) n.3255C>T | |
13 | g.51946308G>C | CA483894875 | ATP7B | c.*869C>G (n.*869C>G) c.*1780C>G (n.*1780C>G) c.2415C>G (p.Gly805=) c.3036C>G (p.Gly1012=) c.2703C>G (p.Gly901=) c.2784C>G (p.Gly928=) c.2802C>G (p.Gly934=) n.1183C>G n.3399C>G c.1971C>G (p.Gly657=) c.1746C>G (p.Gly582=) c.2866-2017C>G (n.2866-2017C>G) n.256C>G c.997C>G c.*137C>G (n.*137C>G) n.3780C>G n.2381C>G c.2892C>G (p.Gly964=) n.382C>G c.2940C>G (p.Gly980=) c.3000C>G (p.Gly1000=) c.2550C>G (p.Gly850=) c.852C>G (p.Gly284=) c.2901C>G (p.Gly967=) c.2622C>G (p.Gly874=) c.2730+3699C>G (n.2730+3699C>G) c.1704C>G (p.Gly568=) n.3255C>G | |
13 | g.51946308G>T | CA483894876 | ATP7B | c.*869C>A (n.*869C>A) c.*1780C>A (n.*1780C>A) c.2415C>A (p.Gly805=) c.3036C>A (p.Gly1012=) c.2703C>A (p.Gly901=) c.2784C>A (p.Gly928=) c.2802C>A (p.Gly934=) n.1183C>A n.3399C>A c.1971C>A (p.Gly657=) c.1746C>A (p.Gly582=) c.2866-2017C>A (n.2866-2017C>A) n.256C>A c.997C>A c.*137C>A (n.*137C>A) n.3780C>A n.2381C>A c.2892C>A (p.Gly964=) n.382C>A c.2940C>A (p.Gly980=) c.3000C>A (p.Gly1000=) c.2550C>A (p.Gly850=) c.852C>A (p.Gly284=) c.2901C>A (p.Gly967=) c.2622C>A (p.Gly874=) c.2730+3699C>A (n.2730+3699C>A) c.1704C>A (p.Gly568=) n.3255C>A | gnomAD v4 |
13 | g.51946308dup | CA658683874 | ATP7B | c.*869dup (n.*869dup) c.*1780dup (n.*1780dup) c.2415dup (p.Lys806GlnfsTer15) c.3036dup (p.Lys1013GlnfsTer15) c.2703dup (p.Lys902GlnfsTer15) c.2784dup (p.Lys929GlnfsTer15) c.2802dup (p.Lys935GlnfsTer15) n.1183dup n.3399dup c.1971dup (p.Lys658GlnfsTer15) c.1746dup (p.Lys583GlnfsTer15) c.2866-2017dup (n.2866-2017dup) n.256dup c.997dup c.*137dup (n.*137dup) n.3780dup n.2381dup c.2892dup (p.Lys965GlnfsTer15) n.382dup c.2940dup (p.Lys981GlnfsTer15) c.3000dup (p.Lys1001GlnfsTer15) c.2550dup (p.Lys851GlnfsTer15) c.852dup (p.Lys285GlnfsTer15) c.852dup (p.Lys285GlnfsTer?) c.2901dup (p.Lys968GlnfsTer15) c.3036dup (p.Lys1013GlnfsTer?) c.2622dup (p.Lys875GlnfsTer15) c.2730+3699dup (n.2730+3699dup) c.1704dup (p.Lys569GlnfsTer15) n.3255dup | ClinVar dbSNP gnomAD v4 |
13 | g.51946309C>A | CA6988833 | ATP7B | c.*868G>T (n.*868G>T) c.*1779G>T (n.*1779G>T) c.2414G>T (p.Gly805Val) c.3035G>T (p.Gly1012Val) c.2702G>T (p.Gly901Val) c.2783G>T (p.Gly928Val) c.2801G>T (p.Gly934Val) n.1182G>T n.3398G>T c.1970G>T (p.Gly657Val) c.1745G>T (p.Gly582Val) c.2866-2018G>T (n.2866-2018G>T) n.255G>T c.996G>T c.*136G>T (n.*136G>T) n.3779G>T n.2380G>T c.2891G>T (p.Gly964Val) n.381G>T c.2939G>T (p.Gly980Val) c.2999G>T (p.Gly1000Val) c.2549G>T (p.Gly850Val) c.851G>T (p.Gly284Val) c.2900G>T (p.Gly967Val) c.2621G>T (p.Gly874Val) c.2730+3698G>T (n.2730+3698G>T) c.1703G>T (p.Gly568Val) n.3254G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946309C= | CA2091566130 | ATP7B | c.*868G= (n.*868G=) c.*1779G= (n.*1779G=) c.2414G= (p.Gly805=) c.3035G= (p.Gly1012=) c.2702G= (p.Gly901=) c.2783G= (p.Gly928=) c.2801G= (p.Gly934=) n.1182G= n.3398G= c.1970G= (p.Gly657=) c.1745G= (p.Gly582=) c.2866-2018G= (n.2866-2018G=) n.255G= c.996G= c.*136G= (n.*136G=) n.3779G= n.2380G= c.2891G= (p.Gly964=) n.381G= c.2939G= (p.Gly980=) c.2999G= (p.Gly1000=) c.2549G= (p.Gly850=) c.851G= (p.Gly284=) c.2900G= (p.Gly967=) c.2621G= (p.Gly874=) c.2730+3698G= (n.2730+3698G=) c.1703G= (p.Gly568=) n.3254G= | |
13 | g.51946309C>G | CA388031867 | ATP7B | c.*868G>C (n.*868G>C) c.*1779G>C (n.*1779G>C) c.2414G>C (p.Gly805Ala) c.3035G>C (p.Gly1012Ala) c.2702G>C (p.Gly901Ala) c.2783G>C (p.Gly928Ala) c.2801G>C (p.Gly934Ala) n.1182G>C n.3398G>C c.1970G>C (p.Gly657Ala) c.1745G>C (p.Gly582Ala) c.2866-2018G>C (n.2866-2018G>C) n.255G>C c.996G>C c.*136G>C (n.*136G>C) n.3779G>C n.2380G>C c.2891G>C (p.Gly964Ala) n.381G>C c.2939G>C (p.Gly980Ala) c.2999G>C (p.Gly1000Ala) c.2549G>C (p.Gly850Ala) c.851G>C (p.Gly284Ala) c.2900G>C (p.Gly967Ala) c.2621G>C (p.Gly874Ala) c.2730+3698G>C (n.2730+3698G>C) c.1703G>C (p.Gly568Ala) n.3254G>C | |
13 | g.51946309C>T | CA388031869 | ATP7B | c.*868G>A (n.*868G>A) c.*1779G>A (n.*1779G>A) c.2414G>A (p.Gly805Asp) c.3035G>A (p.Gly1012Asp) c.2702G>A (p.Gly901Asp) c.2783G>A (p.Gly928Asp) c.2801G>A (p.Gly934Asp) n.1182G>A n.3398G>A c.1970G>A (p.Gly657Asp) c.1745G>A (p.Gly582Asp) c.2866-2018G>A (n.2866-2018G>A) n.255G>A c.996G>A c.*136G>A (n.*136G>A) n.3779G>A n.2380G>A c.2891G>A (p.Gly964Asp) n.381G>A c.2939G>A (p.Gly980Asp) c.2999G>A (p.Gly1000Asp) c.2549G>A (p.Gly850Asp) c.851G>A (p.Gly284Asp) c.2900G>A (p.Gly967Asp) c.2621G>A (p.Gly874Asp) c.2730+3698G>A (n.2730+3698G>A) c.1703G>A (p.Gly568Asp) n.3254G>A | gnomAD v4 |
13 | g.51946310C>A | CA388031871 | ATP7B | c.*867G>T (n.*867G>T) c.*1778G>T (n.*1778G>T) c.2413G>T (p.Gly805Cys) c.3034G>T (p.Gly1012Cys) c.2701G>T (p.Gly901Cys) c.2782G>T (p.Gly928Cys) c.2800G>T (p.Gly934Cys) n.1181G>T n.3397G>T c.1969G>T (p.Gly657Cys) c.1744G>T (p.Gly582Cys) c.2866-2019G>T (n.2866-2019G>T) n.254G>T c.995G>T c.*135G>T (n.*135G>T) n.3778G>T n.2379G>T c.2890G>T (p.Gly964Cys) n.380G>T c.2938G>T (p.Gly980Cys) c.2998G>T (p.Gly1000Cys) c.2548G>T (p.Gly850Cys) c.850G>T (p.Gly284Cys) c.2899G>T (p.Gly967Cys) c.2620G>T (p.Gly874Cys) c.2730+3697G>T (n.2730+3697G>T) c.1702G>T (p.Gly568Cys) n.3253G>T | |
13 | g.51946310C= | CA2091566131 | ATP7B | c.*867G= (n.*867G=) c.*1778G= (n.*1778G=) c.2413G= (p.Gly805=) c.3034G= (p.Gly1012=) c.2701G= (p.Gly901=) c.2782G= (p.Gly928=) c.2800G= (p.Gly934=) n.1181G= n.3397G= c.1969G= (p.Gly657=) c.1744G= (p.Gly582=) c.2866-2019G= (n.2866-2019G=) n.254G= c.995G= c.*135G= (n.*135G=) n.3778G= n.2379G= c.2890G= (p.Gly964=) n.380G= c.2938G= (p.Gly980=) c.2998G= (p.Gly1000=) c.2548G= (p.Gly850=) c.850G= (p.Gly284=) c.2899G= (p.Gly967=) c.2620G= (p.Gly874=) c.2730+3697G= (n.2730+3697G=) c.1702G= (p.Gly568=) n.3253G= | |
13 | g.51946310C>G | CA388031877 | ATP7B | c.*867G>C (n.*867G>C) c.*1778G>C (n.*1778G>C) c.2413G>C (p.Gly805Arg) c.3034G>C (p.Gly1012Arg) c.2701G>C (p.Gly901Arg) c.2782G>C (p.Gly928Arg) c.2800G>C (p.Gly934Arg) n.1181G>C n.3397G>C c.1969G>C (p.Gly657Arg) c.1744G>C (p.Gly582Arg) c.2866-2019G>C (n.2866-2019G>C) n.254G>C c.995G>C c.*135G>C (n.*135G>C) n.3778G>C n.2379G>C c.2890G>C (p.Gly964Arg) n.380G>C c.2938G>C (p.Gly980Arg) c.2998G>C (p.Gly1000Arg) c.2548G>C (p.Gly850Arg) c.850G>C (p.Gly284Arg) c.2899G>C (p.Gly967Arg) c.2620G>C (p.Gly874Arg) c.2730+3697G>C (n.2730+3697G>C) c.1702G>C (p.Gly568Arg) n.3253G>C | |
13 | g.51946310C>T | CA250082045 | ATP7B | c.*867G>A (n.*867G>A) c.*1778G>A (n.*1778G>A) c.2413G>A (p.Gly805Ser) c.3034G>A (p.Gly1012Ser) c.2701G>A (p.Gly901Ser) c.2782G>A (p.Gly928Ser) c.2800G>A (p.Gly934Ser) n.1181G>A n.3397G>A c.1969G>A (p.Gly657Ser) c.1744G>A (p.Gly582Ser) c.2866-2019G>A (n.2866-2019G>A) n.254G>A c.995G>A c.*135G>A (n.*135G>A) n.3778G>A n.2379G>A c.2890G>A (p.Gly964Ser) n.380G>A c.2938G>A (p.Gly980Ser) c.2998G>A (p.Gly1000Ser) c.2548G>A (p.Gly850Ser) c.850G>A (p.Gly284Ser) c.2899G>A (p.Gly967Ser) c.2620G>A (p.Gly874Ser) c.2730+3697G>A (n.2730+3697G>A) c.1702G>A (p.Gly568Ser) n.3253G>A | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51946311T>A | CA6988834 | ATP7B | c.*866A>T (n.*866A>T) c.*1777A>T (n.*1777A>T) c.2412A>T (p.Gly804=) c.3033A>T (p.Gly1011=) c.2700A>T (p.Gly900=) c.2781A>T (p.Gly927=) c.2799A>T (p.Gly933=) n.1180A>T n.3396A>T c.1968A>T (p.Gly656=) c.1743A>T (p.Gly581=) c.2866-2020A>T (n.2866-2020A>T) n.253A>T c.994A>T c.*134A>T (n.*134A>T) n.3777A>T n.2378A>T c.2889A>T (p.Gly963=) n.379A>T c.2937A>T (p.Gly979=) c.2997A>T (p.Gly999=) c.2547A>T (p.Gly849=) c.849A>T (p.Gly283=) c.2898A>T (p.Gly966=) c.2619A>T (p.Gly873=) c.2730+3696A>T (n.2730+3696A>T) c.1701A>T (p.Gly567=) n.3252A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51946311T>C | CA483894878 | ATP7B | c.*866A>G (n.*866A>G) c.*1777A>G (n.*1777A>G) c.2412A>G (p.Gly804=) c.3033A>G (p.Gly1011=) c.2700A>G (p.Gly900=) c.2781A>G (p.Gly927=) c.2799A>G (p.Gly933=) n.1180A>G n.3396A>G c.1968A>G (p.Gly656=) c.1743A>G (p.Gly581=) c.2866-2020A>G (n.2866-2020A>G) n.253A>G c.994A>G c.*134A>G (n.*134A>G) n.3777A>G n.2378A>G c.2889A>G (p.Gly963=) n.379A>G c.2937A>G (p.Gly979=) c.2997A>G (p.Gly999=) c.2547A>G (p.Gly849=) c.849A>G (p.Gly283=) c.2898A>G (p.Gly966=) c.2619A>G (p.Gly873=) c.2730+3696A>G (n.2730+3696A>G) c.1701A>G (p.Gly567=) n.3252A>G | ClinVar dbSNP |
13 | g.51946311T>G | CA483894877 | ATP7B | c.*866A>C (n.*866A>C) c.*1777A>C (n.*1777A>C) c.2412A>C (p.Gly804=) c.3033A>C (p.Gly1011=) c.2700A>C (p.Gly900=) c.2781A>C (p.Gly927=) c.2799A>C (p.Gly933=) n.1180A>C n.3396A>C c.1968A>C (p.Gly656=) c.1743A>C (p.Gly581=) c.2866-2020A>C (n.2866-2020A>C) n.253A>C c.994A>C c.*134A>C (n.*134A>C) n.3777A>C n.2378A>C c.2889A>C (p.Gly963=) n.379A>C c.2937A>C (p.Gly979=) c.2997A>C (p.Gly999=) c.2547A>C (p.Gly849=) c.849A>C (p.Gly283=) c.2898A>C (p.Gly966=) c.2619A>C (p.Gly873=) c.2730+3696A>C (n.2730+3696A>C) c.1701A>C (p.Gly567=) n.3252A>C | |
13 | g.51946311T= | CA2091566132 | ATP7B | c.*866A= (n.*866A=) c.*1777A= (n.*1777A=) c.2412A= (p.Gly804=) c.3033A= (p.Gly1011=) c.2700A= (p.Gly900=) c.2781A= (p.Gly927=) c.2799A= (p.Gly933=) n.1180A= n.3396A= c.1968A= (p.Gly656=) c.1743A= (p.Gly581=) c.2866-2020A= (n.2866-2020A=) n.253A= c.994A= c.*134A= (n.*134A=) n.3777A= n.2378A= c.2889A= (p.Gly963=) n.379A= c.2937A= (p.Gly979=) c.2997A= (p.Gly999=) c.2547A= (p.Gly849=) c.849A= (p.Gly283=) c.2898A= (p.Gly966=) c.2619A= (p.Gly873=) c.2730+3696A= (n.2730+3696A=) c.1701A= (p.Gly567=) n.3252A= | |
13 | g.51946311dup | CA2623117241 | ATP7B | c.*866dup (n.*866dup) c.*1777dup (n.*1777dup) c.2412dup (p.Gly805ArgfsTer16) c.3033dup (p.Gly1012ArgfsTer16) c.2700dup (p.Gly901ArgfsTer16) c.2781dup (p.Gly928ArgfsTer16) c.2799dup (p.Gly934ArgfsTer16) n.1180dup n.3396dup c.1968dup (p.Gly657ArgfsTer16) c.1743dup (p.Gly582ArgfsTer16) c.2866-2020dup (n.2866-2020dup) n.253dup c.994dup c.*134dup (n.*134dup) n.3777dup n.2378dup c.2889dup (p.Gly964ArgfsTer16) n.379dup c.2937dup (p.Gly980ArgfsTer16) c.2997dup (p.Gly1000ArgfsTer16) c.2547dup (p.Gly850ArgfsTer16) c.849dup (p.Gly284ArgfsTer16) c.849dup (p.Gly284ArgfsTer?) c.2898dup (p.Gly967ArgfsTer16) c.3033dup (p.Gly1012ArgfsTer?) c.2619dup (p.Gly874ArgfsTer16) c.2730+3696dup (n.2730+3696dup) c.1701dup (p.Gly568ArgfsTer16) n.3252dup | gnomAD v4 |
13 | g.51946312C>A | CA388031881 | ATP7B | c.*865G>T (n.*865G>T) c.*1776G>T (n.*1776G>T) c.2411G>T (p.Gly804Val) c.3032G>T (p.Gly1011Val) c.2699G>T (p.Gly900Val) c.2780G>T (p.Gly927Val) c.2798G>T (p.Gly933Val) n.1179G>T n.3395G>T c.1967G>T (p.Gly656Val) c.1742G>T (p.Gly581Val) c.2866-2021G>T (n.2866-2021G>T) n.252G>T c.993G>T c.*133G>T (n.*133G>T) n.3776G>T n.2377G>T c.2888G>T (p.Gly963Val) n.378G>T c.2936G>T (p.Gly979Val) c.2996G>T (p.Gly999Val) c.2546G>T (p.Gly849Val) c.848G>T (p.Gly283Val) c.2897G>T (p.Gly966Val) c.2618G>T (p.Gly873Val) c.2730+3695G>T (n.2730+3695G>T) c.1700G>T (p.Gly567Val) n.3251G>T | gnomAD v4 |
13 | g.51946312C>G | CA388031884 | ATP7B | c.*865G>C (n.*865G>C) c.*1776G>C (n.*1776G>C) c.2411G>C (p.Gly804Ala) c.3032G>C (p.Gly1011Ala) c.2699G>C (p.Gly900Ala) c.2780G>C (p.Gly927Ala) c.2798G>C (p.Gly933Ala) n.1179G>C n.3395G>C c.1967G>C (p.Gly656Ala) c.1742G>C (p.Gly581Ala) c.2866-2021G>C (n.2866-2021G>C) n.252G>C c.993G>C c.*133G>C (n.*133G>C) n.3776G>C n.2377G>C c.2888G>C (p.Gly963Ala) n.378G>C c.2936G>C (p.Gly979Ala) c.2996G>C (p.Gly999Ala) c.2546G>C (p.Gly849Ala) c.848G>C (p.Gly283Ala) c.2897G>C (p.Gly966Ala) c.2618G>C (p.Gly873Ala) c.2730+3695G>C (n.2730+3695G>C) c.1700G>C (p.Gly567Ala) n.3251G>C | |
13 | g.51946312C>T | CA388031886 | ATP7B | c.*865G>A (n.*865G>A) c.*1776G>A (n.*1776G>A) c.2411G>A (p.Gly804Glu) c.3032G>A (p.Gly1011Glu) c.2699G>A (p.Gly900Glu) c.2780G>A (p.Gly927Glu) c.2798G>A (p.Gly933Glu) n.1179G>A n.3395G>A c.1967G>A (p.Gly656Glu) c.1742G>A (p.Gly581Glu) c.2866-2021G>A (n.2866-2021G>A) n.252G>A c.993G>A c.*133G>A (n.*133G>A) n.3776G>A n.2377G>A c.2888G>A (p.Gly963Glu) n.378G>A c.2936G>A (p.Gly979Glu) c.2996G>A (p.Gly999Glu) c.2546G>A (p.Gly849Glu) c.848G>A (p.Gly283Glu) c.2897G>A (p.Gly966Glu) c.2618G>A (p.Gly873Glu) c.2730+3695G>A (n.2730+3695G>A) c.1700G>A (p.Gly567Glu) n.3251G>A | |
13 | g.51946312_51946313insA | CA2502576276 | ATP7B | c.*864_*865insT (n.*864_*865insT) c.*1775_*1776insT (n.*1775_*1776insT) c.2410_2411insT (p.Gly804ValfsTer17) c.3031_3032insT (p.Gly1011ValfsTer17) c.2698_2699insT (p.Gly900ValfsTer17) c.2779_2780insT (p.Gly927ValfsTer17) c.2797_2798insT (p.Gly933ValfsTer17) n.1178_1179insT n.3394_3395insT c.1966_1967insT (p.Gly656ValfsTer17) c.1741_1742insT (p.Gly581ValfsTer17) c.2866-2022_2866-2021insT (n.2866-2022_2866-2021insT) n.251_252insT c.992_993insT c.*132_*133insT (n.*132_*133insT) n.3775_3776insT n.2376_2377insT c.2887_2888insT (p.Gly963ValfsTer17) n.377_378insT c.2935_2936insT (p.Gly979ValfsTer17) c.2995_2996insT (p.Gly999ValfsTer17) c.2545_2546insT (p.Gly849ValfsTer17) c.847_848insT (p.Gly283ValfsTer17) c.847_848insT (p.Gly283ValfsTer?) c.2896_2897insT (p.Gly966ValfsTer17) c.3031_3032insT (p.Gly1011ValfsTer?) c.2617_2618insT (p.Gly873ValfsTer17) c.2730+3694_2730+3695insT (n.2730+3694_2730+3695insT) c.1699_1700insT (p.Gly567ValfsTer17) n.3250_3251insT | |
13 | g.51946312_51946313insG | CA2695218760 | ATP7B | c.*864_*865insC (n.*864_*865insC) c.*1775_*1776insC (n.*1775_*1776insC) c.2410_2411insC (p.Gly804AlafsTer17) c.3031_3032insC (p.Gly1011AlafsTer17) c.2698_2699insC (p.Gly900AlafsTer17) c.2779_2780insC (p.Gly927AlafsTer17) c.2797_2798insC (p.Gly933AlafsTer17) n.1178_1179insC n.3394_3395insC c.1966_1967insC (p.Gly656AlafsTer17) c.1741_1742insC (p.Gly581AlafsTer17) c.2866-2022_2866-2021insC (n.2866-2022_2866-2021insC) n.251_252insC c.992_993insC c.*132_*133insC (n.*132_*133insC) n.3775_3776insC n.2376_2377insC c.2887_2888insC (p.Gly963AlafsTer17) n.377_378insC c.2935_2936insC (p.Gly979AlafsTer17) c.2995_2996insC (p.Gly999AlafsTer17) c.2545_2546insC (p.Gly849AlafsTer17) c.847_848insC (p.Gly283AlafsTer17) c.847_848insC (p.Gly283AlafsTer?) c.2896_2897insC (p.Gly966AlafsTer17) c.3031_3032insC (p.Gly1011AlafsTer?) c.2617_2618insC (p.Gly873AlafsTer17) c.2730+3694_2730+3695insC (n.2730+3694_2730+3695insC) c.1699_1700insC (p.Gly567AlafsTer17) n.3250_3251insC | |
13 | g.51946313C>A | CA388031888 | ATP7B | c.*864G>T (n.*864G>T) c.*1775G>T (n.*1775G>T) c.2410G>T (p.Gly804Ter) c.3031G>T (p.Gly1011Ter) c.2698G>T (p.Gly900Ter) c.2779G>T (p.Gly927Ter) c.2797G>T (p.Gly933Ter) n.1178G>T n.3394G>T c.1966G>T (p.Gly656Ter) c.1741G>T (p.Gly581Ter) c.2866-2022G>T (n.2866-2022G>T) n.251G>T c.992G>T c.*132G>T (n.*132G>T) n.3775G>T n.2376G>T c.2887G>T (p.Gly963Ter) n.377G>T c.2935G>T (p.Gly979Ter) c.2995G>T (p.Gly999Ter) c.2545G>T (p.Gly849Ter) c.847G>T (p.Gly283Ter) c.2896G>T (p.Gly966Ter) c.2617G>T (p.Gly873Ter) c.2730+3694G>T (n.2730+3694G>T) c.1699G>T (p.Gly567Ter) n.3250G>T | |
13 | g.51946313C= | CA2091566133 | ATP7B | c.*864G= (n.*864G=) c.*1775G= (n.*1775G=) c.2410G= (p.Gly804=) c.3031G= (p.Gly1011=) c.2698G= (p.Gly900=) c.2779G= (p.Gly927=) c.2797G= (p.Gly933=) n.1178G= n.3394G= c.1966G= (p.Gly656=) c.1741G= (p.Gly581=) c.2866-2022G= (n.2866-2022G=) n.251G= c.992G= c.*132G= (n.*132G=) n.3775G= n.2376G= c.2887G= (p.Gly963=) n.377G= c.2935G= (p.Gly979=) c.2995G= (p.Gly999=) c.2545G= (p.Gly849=) c.847G= (p.Gly283=) c.2896G= (p.Gly966=) c.2617G= (p.Gly873=) c.2730+3694G= (n.2730+3694G=) c.1699G= (p.Gly567=) n.3250G= | |
13 | g.51946313C>G | CA388031891 | ATP7B | c.*864G>C (n.*864G>C) c.*1775G>C (n.*1775G>C) c.2410G>C (p.Gly804Arg) c.3031G>C (p.Gly1011Arg) c.2698G>C (p.Gly900Arg) c.2779G>C (p.Gly927Arg) c.2797G>C (p.Gly933Arg) n.1178G>C n.3394G>C c.1966G>C (p.Gly656Arg) c.1741G>C (p.Gly581Arg) c.2866-2022G>C (n.2866-2022G>C) n.251G>C c.992G>C c.*132G>C (n.*132G>C) n.3775G>C n.2376G>C c.2887G>C (p.Gly963Arg) n.377G>C c.2935G>C (p.Gly979Arg) c.2995G>C (p.Gly999Arg) c.2545G>C (p.Gly849Arg) c.847G>C (p.Gly283Arg) c.2896G>C (p.Gly966Arg) c.2617G>C (p.Gly873Arg) c.2730+3694G>C (n.2730+3694G>C) c.1699G>C (p.Gly567Arg) n.3250G>C | |
13 | g.51946313C>T | CA388031893 | ATP7B | c.*864G>A (n.*864G>A) c.*1775G>A (n.*1775G>A) c.2410G>A (p.Gly804Arg) c.3031G>A (p.Gly1011Arg) c.2698G>A (p.Gly900Arg) c.2779G>A (p.Gly927Arg) c.2797G>A (p.Gly933Arg) n.1178G>A n.3394G>A c.1966G>A (p.Gly656Arg) c.1741G>A (p.Gly581Arg) c.2866-2022G>A (n.2866-2022G>A) n.251G>A c.992G>A c.*132G>A (n.*132G>A) n.3775G>A n.2376G>A c.2887G>A (p.Gly963Arg) n.377G>A c.2935G>A (p.Gly979Arg) c.2995G>A (p.Gly999Arg) c.2545G>A (p.Gly849Arg) c.847G>A (p.Gly283Arg) c.2896G>A (p.Gly966Arg) c.2617G>A (p.Gly873Arg) c.2730+3694G>A (n.2730+3694G>A) c.1699G>A (p.Gly567Arg) n.3250G>A | dbSNP gnomAD v2 |
13 | g.51946314C>A | CA388031895 | ATP7B | c.*863G>T (n.*863G>T) c.*1774G>T (n.*1774G>T) c.2409G>T (p.Lys803Asn) c.3030G>T (p.Lys1010Asn) c.2697G>T (p.Lys899Asn) c.2778G>T (p.Lys926Asn) c.2796G>T (p.Lys932Asn) n.1177G>T n.3393G>T c.1965G>T (p.Lys655Asn) c.1740G>T (p.Lys580Asn) c.2866-2023G>T (n.2866-2023G>T) n.250G>T c.991G>T c.*131G>T (n.*131G>T) n.3774G>T n.2375G>T c.2886G>T (p.Lys962Asn) n.376G>T c.2934G>T (p.Lys978Asn) c.2994G>T (p.Lys998Asn) c.2544G>T (p.Lys848Asn) c.846G>T (p.Lys282Asn) c.2895G>T (p.Lys965Asn) c.2616G>T (p.Lys872Asn) c.2730+3693G>T (n.2730+3693G>T) c.1698G>T (p.Lys566Asn) n.3249G>T | gnomAD v4 |
13 | g.51946314C>G | CA388031898 | ATP7B | c.*863G>C (n.*863G>C) c.*1774G>C (n.*1774G>C) c.2409G>C (p.Lys803Asn) c.3030G>C (p.Lys1010Asn) c.2697G>C (p.Lys899Asn) c.2778G>C (p.Lys926Asn) c.2796G>C (p.Lys932Asn) n.1177G>C n.3393G>C c.1965G>C (p.Lys655Asn) c.1740G>C (p.Lys580Asn) c.2866-2023G>C (n.2866-2023G>C) n.250G>C c.991G>C c.*131G>C (n.*131G>C) n.3774G>C n.2375G>C c.2886G>C (p.Lys962Asn) n.376G>C c.2934G>C (p.Lys978Asn) c.2994G>C (p.Lys998Asn) c.2544G>C (p.Lys848Asn) c.846G>C (p.Lys282Asn) c.2895G>C (p.Lys965Asn) c.2616G>C (p.Lys872Asn) c.2730+3693G>C (n.2730+3693G>C) c.1698G>C (p.Lys566Asn) n.3249G>C | ClinVar |
13 | g.51946314C>T | CA483894879 | ATP7B | c.*863G>A (n.*863G>A) c.*1774G>A (n.*1774G>A) c.2409G>A (p.Lys803=) c.3030G>A (p.Lys1010=) c.2697G>A (p.Lys899=) c.2778G>A (p.Lys926=) c.2796G>A (p.Lys932=) n.1177G>A n.3393G>A c.1965G>A (p.Lys655=) c.1740G>A (p.Lys580=) c.2866-2023G>A (n.2866-2023G>A) n.250G>A c.991G>A c.*131G>A (n.*131G>A) n.3774G>A n.2375G>A c.2886G>A (p.Lys962=) n.376G>A c.2934G>A (p.Lys978=) c.2994G>A (p.Lys998=) c.2544G>A (p.Lys848=) c.846G>A (p.Lys282=) c.2895G>A (p.Lys965=) c.2616G>A (p.Lys872=) c.2730+3693G>A (n.2730+3693G>A) c.1698G>A (p.Lys566=) n.3249G>A | |
13 | g.51946314_51946315insA | CA2695218761 | ATP7B | c.*862_*863insT (n.*862_*863insT) c.*1773_*1774insT (n.*1773_*1774insT) c.2408_2409insT (p.Lys803AsnfsTer18) c.3029_3030insT (p.Lys1010AsnfsTer18) c.2696_2697insT (p.Lys899AsnfsTer18) c.2777_2778insT (p.Lys926AsnfsTer18) c.2795_2796insT (p.Lys932AsnfsTer18) n.1176_1177insT n.3392_3393insT c.1964_1965insT (p.Lys655AsnfsTer18) c.1739_1740insT (p.Lys580AsnfsTer18) c.2866-2024_2866-2023insT (n.2866-2024_2866-2023insT) n.249_250insT c.990_991insT c.*130_*131insT (n.*130_*131insT) n.3773_3774insT n.2374_2375insT c.2885_2886insT (p.Lys962AsnfsTer18) n.375_376insT c.2933_2934insT (p.Lys978AsnfsTer18) c.2993_2994insT (p.Lys998AsnfsTer18) c.2543_2544insT (p.Lys848AsnfsTer18) c.845_846insT (p.Lys282AsnfsTer18) c.845_846insT (p.Lys282AsnfsTer?) c.2894_2895insT (p.Lys965AsnfsTer18) c.3029_3030insT (p.Lys1010AsnfsTer?) c.2615_2616insT (p.Lys872AsnfsTer18) c.2730+3692_2730+3693insT (n.2730+3692_2730+3693insT) c.1697_1698insT (p.Lys566AsnfsTer18) n.3248_3249insT | |
13 | g.51946315T>A | CA388031900 | ATP7B | c.*862A>T (n.*862A>T) c.*1773A>T (n.*1773A>T) c.2408A>T (p.Lys803Met) c.3029A>T (p.Lys1010Met) c.2696A>T (p.Lys899Met) c.2777A>T (p.Lys926Met) c.2795A>T (p.Lys932Met) n.1176A>T n.3392A>T c.1964A>T (p.Lys655Met) c.1739A>T (p.Lys580Met) c.2866-2024A>T (n.2866-2024A>T) n.249A>T c.990A>T c.*130A>T (n.*130A>T) n.3773A>T n.2374A>T c.2885A>T (p.Lys962Met) n.375A>T c.2933A>T (p.Lys978Met) c.2993A>T (p.Lys998Met) c.2543A>T (p.Lys848Met) c.845A>T (p.Lys282Met) c.2894A>T (p.Lys965Met) c.2615A>T (p.Lys872Met) c.2730+3692A>T (n.2730+3692A>T) c.1697A>T (p.Lys566Met) n.3248A>T | |
13 | g.51946315T>C | CA6988835 | ATP7B | c.*862A>G (n.*862A>G) c.*1773A>G (n.*1773A>G) c.2408A>G (p.Lys803Arg) c.3029A>G (p.Lys1010Arg) c.2696A>G (p.Lys899Arg) c.2777A>G (p.Lys926Arg) c.2795A>G (p.Lys932Arg) n.1176A>G n.3392A>G c.1964A>G (p.Lys655Arg) c.1739A>G (p.Lys580Arg) c.2866-2024A>G (n.2866-2024A>G) n.249A>G c.990A>G c.*130A>G (n.*130A>G) n.3773A>G n.2374A>G c.2885A>G (p.Lys962Arg) n.375A>G c.2933A>G (p.Lys978Arg) c.2993A>G (p.Lys998Arg) c.2543A>G (p.Lys848Arg) c.845A>G (p.Lys282Arg) c.2894A>G (p.Lys965Arg) c.2615A>G (p.Lys872Arg) c.2730+3692A>G (n.2730+3692A>G) c.1697A>G (p.Lys566Arg) n.3248A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51946315T>G | CA388031901 | ATP7B | c.*862A>C (n.*862A>C) c.*1773A>C (n.*1773A>C) c.2408A>C (p.Lys803Thr) c.3029A>C (p.Lys1010Thr) c.2696A>C (p.Lys899Thr) c.2777A>C (p.Lys926Thr) c.2795A>C (p.Lys932Thr) n.1176A>C n.3392A>C c.1964A>C (p.Lys655Thr) c.1739A>C (p.Lys580Thr) c.2866-2024A>C (n.2866-2024A>C) n.249A>C c.990A>C c.*130A>C (n.*130A>C) n.3773A>C n.2374A>C c.2885A>C (p.Lys962Thr) n.375A>C c.2933A>C (p.Lys978Thr) c.2993A>C (p.Lys998Thr) c.2543A>C (p.Lys848Thr) c.845A>C (p.Lys282Thr) c.2894A>C (p.Lys965Thr) c.2615A>C (p.Lys872Thr) c.2730+3692A>C (n.2730+3692A>C) c.1697A>C (p.Lys566Thr) n.3248A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51946315T= | CA2091566134 | ATP7B | c.*862A= (n.*862A=) c.*1773A= (n.*1773A=) c.2408A= (p.Lys803=) c.3029A= (p.Lys1010=) c.2696A= (p.Lys899=) c.2777A= (p.Lys926=) c.2795A= (p.Lys932=) n.1176A= n.3392A= c.1964A= (p.Lys655=) c.1739A= (p.Lys580=) c.2866-2024A= (n.2866-2024A=) n.249A= c.990A= c.*130A= (n.*130A=) n.3773A= n.2374A= c.2885A= (p.Lys962=) n.375A= c.2933A= (p.Lys978=) c.2993A= (p.Lys998=) c.2543A= (p.Lys848=) c.845A= (p.Lys282=) c.2894A= (p.Lys965=) c.2615A= (p.Lys872=) c.2730+3692A= (n.2730+3692A=) c.1697A= (p.Lys566=) n.3248A= | |
13 | g.51946315_51946320del | CA2554795824 | ATP7B | c.*857_*862del (n.*857_*862del) c.*1768_*1773del (n.*1768_*1773del) c.2403_2408del (p.Ile802_Lys803del) c.3024_3029del (p.Ile1009_Lys1010del) c.2691_2696del (p.Ile898_Lys899del) c.2772_2777del (p.Ile925_Lys926del) c.2790_2795del (p.Ile931_Lys932del) n.1171_1176del n.3387_3392del c.1959_1964del (p.Ile654_Lys655del) c.1734_1739del (p.Ile579_Lys580del) c.2866-2029_2866-2024del (n.2866-2029_2866-2024del) n.244_249del c.985_990del c.*125_*130del (n.*125_*130del) n.3768_3773del n.2369_2374del c.2880_2885del (p.Ile961_Lys962del) n.370_375del c.2928_2933del (p.Ile977_Lys978del) c.2988_2993del (p.Ile997_Lys998del) c.2538_2543del (p.Ile847_Lys848del) c.840_845del (p.Ile281_Lys282del) c.2889_2894del (p.Ile964_Lys965del) c.2610_2615del (p.Ile871_Lys872del) c.2730+3687_2730+3692del (n.2730+3687_2730+3692del) c.1692_1697del (p.Ile565_Lys566del) n.3243_3248del | |
13 | g.51946316T>A | CA388031902 | ATP7B | c.*861A>T (n.*861A>T) c.*1772A>T (n.*1772A>T) c.2407A>T (p.Lys803Ter) c.3028A>T (p.Lys1010Ter) c.2695A>T (p.Lys899Ter) c.2776A>T (p.Lys926Ter) c.2794A>T (p.Lys932Ter) n.1175A>T n.3391A>T c.1963A>T (p.Lys655Ter) c.1738A>T (p.Lys580Ter) c.2866-2025A>T (n.2866-2025A>T) n.248A>T c.989A>T c.*129A>T (n.*129A>T) n.3772A>T n.2373A>T c.2884A>T (p.Lys962Ter) n.374A>T c.2932A>T (p.Lys978Ter) c.2992A>T (p.Lys998Ter) c.2542A>T (p.Lys848Ter) c.844A>T (p.Lys282Ter) c.2893A>T (p.Lys965Ter) c.2614A>T (p.Lys872Ter) c.2730+3691A>T (n.2730+3691A>T) c.1696A>T (p.Lys566Ter) n.3247A>T | |
13 | g.51946316T>C | CA388031905 | ATP7B | c.*861A>G (n.*861A>G) c.*1772A>G (n.*1772A>G) c.2407A>G (p.Lys803Glu) c.3028A>G (p.Lys1010Glu) c.2695A>G (p.Lys899Glu) c.2776A>G (p.Lys926Glu) c.2794A>G (p.Lys932Glu) n.1175A>G n.3391A>G c.1963A>G (p.Lys655Glu) c.1738A>G (p.Lys580Glu) c.2866-2025A>G (n.2866-2025A>G) n.248A>G c.989A>G c.*129A>G (n.*129A>G) n.3772A>G n.2373A>G c.2884A>G (p.Lys962Glu) n.374A>G c.2932A>G (p.Lys978Glu) c.2992A>G (p.Lys998Glu) c.2542A>G (p.Lys848Glu) c.844A>G (p.Lys282Glu) c.2893A>G (p.Lys965Glu) c.2614A>G (p.Lys872Glu) c.2730+3691A>G (n.2730+3691A>G) c.1696A>G (p.Lys566Glu) n.3247A>G | dbSNP |
13 | g.51946316T>G | CA388031903 | ATP7B | c.*861A>C (n.*861A>C) c.*1772A>C (n.*1772A>C) c.2407A>C (p.Lys803Gln) c.3028A>C (p.Lys1010Gln) c.2695A>C (p.Lys899Gln) c.2776A>C (p.Lys926Gln) c.2794A>C (p.Lys932Gln) n.1175A>C n.3391A>C c.1963A>C (p.Lys655Gln) c.1738A>C (p.Lys580Gln) c.2866-2025A>C (n.2866-2025A>C) n.248A>C c.989A>C c.*129A>C (n.*129A>C) n.3772A>C n.2373A>C c.2884A>C (p.Lys962Gln) n.374A>C c.2932A>C (p.Lys978Gln) c.2992A>C (p.Lys998Gln) c.2542A>C (p.Lys848Gln) c.844A>C (p.Lys282Gln) c.2893A>C (p.Lys965Gln) c.2614A>C (p.Lys872Gln) c.2730+3691A>C (n.2730+3691A>C) c.1696A>C (p.Lys566Gln) n.3247A>C | |
13 | g.51946316T= | CA2091566135 | ATP7B | c.*861A= (n.*861A=) c.*1772A= (n.*1772A=) c.2407A= (p.Lys803=) c.3028A= (p.Lys1010=) c.2695A= (p.Lys899=) c.2776A= (p.Lys926=) c.2794A= (p.Lys932=) n.1175A= n.3391A= c.1963A= (p.Lys655=) c.1738A= (p.Lys580=) c.2866-2025A= (n.2866-2025A=) n.248A= c.989A= c.*129A= (n.*129A=) n.3772A= n.2373A= c.2884A= (p.Lys962=) n.374A= c.2932A= (p.Lys978=) c.2992A= (p.Lys998=) c.2542A= (p.Lys848=) c.844A= (p.Lys282=) c.2893A= (p.Lys965=) c.2614A= (p.Lys872=) c.2730+3691A= (n.2730+3691A=) c.1696A= (p.Lys566=) n.3247A= | |
13 | g.51946316_51946317del | CA2580087663 | ATP7B | c.*860_*861del (n.*860_*861del) c.*1771_*1772del (n.*1771_*1772del) c.2406_2407del (p.Lys803GlyfsTer17) c.3027_3028del (p.Lys1010GlyfsTer17) c.2694_2695del (p.Lys899GlyfsTer17) c.2775_2776del (p.Lys926GlyfsTer17) c.2793_2794del (p.Lys932GlyfsTer17) n.1174_1175del n.3390_3391del c.1962_1963del (p.Lys655GlyfsTer17) c.1737_1738del (p.Lys580GlyfsTer17) c.2866-2026_2866-2025del (n.2866-2026_2866-2025del) n.247_248del c.988_989del c.*128_*129del (n.*128_*129del) n.3771_3772del n.2372_2373del c.2883_2884del (p.Lys962GlyfsTer17) n.373_374del c.2931_2932del (p.Lys978GlyfsTer17) c.2991_2992del (p.Lys998GlyfsTer17) c.2541_2542del (p.Lys848GlyfsTer17) c.843_844del (p.Lys282GlyfsTer17) c.843_844del (p.Lys282GlyfsTer?) c.2892_2893del (p.Lys965GlyfsTer17) c.3027_3028del (p.Lys1010GlyfsTer?) c.2613_2614del (p.Lys872GlyfsTer17) c.2730+3690_2730+3691del (n.2730+3690_2730+3691del) c.1695_1696del (p.Lys566GlyfsTer17) n.3246_3247del | ClinVar |
13 | g.51946319_51946321del | CA2695218762 | ATP7B | c.*859_*861del (n.*859_*861del) c.*1770_*1772del (n.*1770_*1772del) c.2405_2407del (p.Ile802del) c.3026_3028del (p.Ile1009del) c.2693_2695del (p.Ile898del) c.2774_2776del (p.Ile925del) c.2792_2794del (p.Ile931del) n.1173_1175del n.3389_3391del c.1961_1963del (p.Ile654del) c.1736_1738del (p.Ile579del) c.2866-2027_2866-2025del (n.2866-2027_2866-2025del) n.246_248del c.987_989del c.*127_*129del (n.*127_*129del) n.3770_3772del n.2371_2373del c.2882_2884del (p.Ile961del) n.372_374del c.2930_2932del (p.Ile977del) c.2990_2992del (p.Ile997del) c.2540_2542del (p.Ile847del) c.842_844del (p.Ile281del) c.2891_2893del (p.Ile964del) c.2612_2614del (p.Ile871del) c.2730+3689_2730+3691del (n.2730+3689_2730+3691del) c.1694_1696del (p.Ile565del) n.3245_3247del | |
13 | g.51946317G>A | CA483894880 | ATP7B | c.*860C>T (n.*860C>T) c.*1771C>T (n.*1771C>T) c.2406C>T (p.Ile802=) c.3027C>T (p.Ile1009=) c.2694C>T (p.Ile898=) c.2775C>T (p.Ile925=) c.2793C>T (p.Ile931=) n.1174C>T n.3390C>T c.1962C>T (p.Ile654=) c.1737C>T (p.Ile579=) c.2866-2026C>T (n.2866-2026C>T) n.247C>T c.988C>T c.*128C>T (n.*128C>T) n.3771C>T n.2372C>T c.2883C>T (p.Ile961=) n.373C>T c.2931C>T (p.Ile977=) c.2991C>T (p.Ile997=) c.2541C>T (p.Ile847=) c.843C>T (p.Ile281=) c.2892C>T (p.Ile964=) c.2613C>T (p.Ile871=) c.2730+3690C>T (n.2730+3690C>T) c.1695C>T (p.Ile565=) n.3246C>T | dbSNP gnomAD v4 |
13 | g.51946317G>C | CA388031908 | ATP7B | c.*860C>G (n.*860C>G) c.*1771C>G (n.*1771C>G) c.2406C>G (p.Ile802Met) c.3027C>G (p.Ile1009Met) c.2694C>G (p.Ile898Met) c.2775C>G (p.Ile925Met) c.2793C>G (p.Ile931Met) n.1174C>G n.3390C>G c.1962C>G (p.Ile654Met) c.1737C>G (p.Ile579Met) c.2866-2026C>G (n.2866-2026C>G) n.247C>G c.988C>G c.*128C>G (n.*128C>G) n.3771C>G n.2372C>G c.2883C>G (p.Ile961Met) n.373C>G c.2931C>G (p.Ile977Met) c.2991C>G (p.Ile997Met) c.2541C>G (p.Ile847Met) c.843C>G (p.Ile281Met) c.2892C>G (p.Ile964Met) c.2613C>G (p.Ile871Met) c.2730+3690C>G (n.2730+3690C>G) c.1695C>G (p.Ile565Met) n.3246C>G | dbSNP |
13 | g.51946317G= | CA2091566136 | ATP7B | c.*860C= (n.*860C=) c.*1771C= (n.*1771C=) c.2406C= (p.Ile802=) c.3027C= (p.Ile1009=) c.2694C= (p.Ile898=) c.2775C= (p.Ile925=) c.2793C= (p.Ile931=) n.1174C= n.3390C= c.1962C= (p.Ile654=) c.1737C= (p.Ile579=) c.2866-2026C= (n.2866-2026C=) n.247C= c.988C= c.*128C= (n.*128C=) n.3771C= n.2372C= c.2883C= (p.Ile961=) n.373C= c.2931C= (p.Ile977=) c.2991C= (p.Ile997=) c.2541C= (p.Ile847=) c.843C= (p.Ile281=) c.2892C= (p.Ile964=) c.2613C= (p.Ile871=) c.2730+3690C= (n.2730+3690C=) c.1695C= (p.Ile565=) n.3246C= | |
13 | g.51946317G>T | CA483894881 | ATP7B | c.*860C>A (n.*860C>A) c.*1771C>A (n.*1771C>A) c.2406C>A (p.Ile802=) c.3027C>A (p.Ile1009=) c.2694C>A (p.Ile898=) c.2775C>A (p.Ile925=) c.2793C>A (p.Ile931=) n.1174C>A n.3390C>A c.1962C>A (p.Ile654=) c.1737C>A (p.Ile579=) c.2866-2026C>A (n.2866-2026C>A) n.247C>A c.988C>A c.*128C>A (n.*128C>A) n.3771C>A n.2372C>A c.2883C>A (p.Ile961=) n.373C>A c.2931C>A (p.Ile977=) c.2991C>A (p.Ile997=) c.2541C>A (p.Ile847=) c.843C>A (p.Ile281=) c.2892C>A (p.Ile964=) c.2613C>A (p.Ile871=) c.2730+3690C>A (n.2730+3690C>A) c.1695C>A (p.Ile565=) n.3246C>A | ClinVar gnomAD v4 |
13 | g.51946318A>C | CA388031910 | ATP7B | c.*859T>G (n.*859T>G) c.*1770T>G (n.*1770T>G) c.2405T>G (p.Ile802Ser) c.3026T>G (p.Ile1009Ser) c.2693T>G (p.Ile898Ser) c.2774T>G (p.Ile925Ser) c.2792T>G (p.Ile931Ser) n.1173T>G n.3389T>G c.1961T>G (p.Ile654Ser) c.1736T>G (p.Ile579Ser) c.2866-2027T>G (n.2866-2027T>G) n.246T>G c.987T>G c.*127T>G (n.*127T>G) n.3770T>G n.2371T>G c.2882T>G (p.Ile961Ser) n.372T>G c.2930T>G (p.Ile977Ser) c.2990T>G (p.Ile997Ser) c.2540T>G (p.Ile847Ser) c.842T>G (p.Ile281Ser) c.2891T>G (p.Ile964Ser) c.2612T>G (p.Ile871Ser) c.2730+3689T>G (n.2730+3689T>G) c.1694T>G (p.Ile565Ser) n.3245T>G | |
13 | g.51946318A>G | CA388031912 | ATP7B | c.*859T>C (n.*859T>C) c.*1770T>C (n.*1770T>C) c.2405T>C (p.Ile802Thr) c.3026T>C (p.Ile1009Thr) c.2693T>C (p.Ile898Thr) c.2774T>C (p.Ile925Thr) c.2792T>C (p.Ile931Thr) n.1173T>C n.3389T>C c.1961T>C (p.Ile654Thr) c.1736T>C (p.Ile579Thr) c.2866-2027T>C (n.2866-2027T>C) n.246T>C c.987T>C c.*127T>C (n.*127T>C) n.3770T>C n.2371T>C c.2882T>C (p.Ile961Thr) n.372T>C c.2930T>C (p.Ile977Thr) c.2990T>C (p.Ile997Thr) c.2540T>C (p.Ile847Thr) c.842T>C (p.Ile281Thr) c.2891T>C (p.Ile964Thr) c.2612T>C (p.Ile871Thr) c.2730+3689T>C (n.2730+3689T>C) c.1694T>C (p.Ile565Thr) n.3245T>C | |
13 | g.51946318A>T | CA388031915 | ATP7B | c.*859T>A (n.*859T>A) c.*1770T>A (n.*1770T>A) c.2405T>A (p.Ile802Asn) c.3026T>A (p.Ile1009Asn) c.2693T>A (p.Ile898Asn) c.2774T>A (p.Ile925Asn) c.2792T>A (p.Ile931Asn) n.1173T>A n.3389T>A c.1961T>A (p.Ile654Asn) c.1736T>A (p.Ile579Asn) c.2866-2027T>A (n.2866-2027T>A) n.246T>A c.987T>A c.*127T>A (n.*127T>A) n.3770T>A n.2371T>A c.2882T>A (p.Ile961Asn) n.372T>A c.2930T>A (p.Ile977Asn) c.2990T>A (p.Ile997Asn) c.2540T>A (p.Ile847Asn) c.842T>A (p.Ile281Asn) c.2891T>A (p.Ile964Asn) c.2612T>A (p.Ile871Asn) c.2730+3689T>A (n.2730+3689T>A) c.1694T>A (p.Ile565Asn) n.3245T>A | |
13 | g.51946319T>A | CA388031923 | ATP7B | c.*858A>T (n.*858A>T) c.*1769A>T (n.*1769A>T) c.2404A>T (p.Ile802Phe) c.3025A>T (p.Ile1009Phe) c.2692A>T (p.Ile898Phe) c.2773A>T (p.Ile925Phe) c.2791A>T (p.Ile931Phe) n.1172A>T n.3388A>T c.1960A>T (p.Ile654Phe) c.1735A>T (p.Ile579Phe) c.2866-2028A>T (n.2866-2028A>T) n.245A>T c.986A>T c.*126A>T (n.*126A>T) n.3769A>T n.2370A>T c.2881A>T (p.Ile961Phe) n.371A>T c.2929A>T (p.Ile977Phe) c.2989A>T (p.Ile997Phe) c.2539A>T (p.Ile847Phe) c.841A>T (p.Ile281Phe) c.2890A>T (p.Ile964Phe) c.2611A>T (p.Ile871Phe) c.2730+3688A>T (n.2730+3688A>T) c.1693A>T (p.Ile565Phe) n.3244A>T | |
13 | g.51946319T>C | CA388031924 | ATP7B | c.*858A>G (n.*858A>G) c.*1769A>G (n.*1769A>G) c.2404A>G (p.Ile802Val) c.3025A>G (p.Ile1009Val) c.2692A>G (p.Ile898Val) c.2773A>G (p.Ile925Val) c.2791A>G (p.Ile931Val) n.1172A>G n.3388A>G c.1960A>G (p.Ile654Val) c.1735A>G (p.Ile579Val) c.2866-2028A>G (n.2866-2028A>G) n.245A>G c.986A>G c.*126A>G (n.*126A>G) n.3769A>G n.2370A>G c.2881A>G (p.Ile961Val) n.371A>G c.2929A>G (p.Ile977Val) c.2989A>G (p.Ile997Val) c.2539A>G (p.Ile847Val) c.841A>G (p.Ile281Val) c.2890A>G (p.Ile964Val) c.2611A>G (p.Ile871Val) c.2730+3688A>G (n.2730+3688A>G) c.1693A>G (p.Ile565Val) n.3244A>G | ClinVar dbSNP |
13 | g.51946319T>G | CA388031931 | ATP7B | c.*858A>C (n.*858A>C) c.*1769A>C (n.*1769A>C) c.2404A>C (p.Ile802Leu) c.3025A>C (p.Ile1009Leu) c.2692A>C (p.Ile898Leu) c.2773A>C (p.Ile925Leu) c.2791A>C (p.Ile931Leu) n.1172A>C n.3388A>C c.1960A>C (p.Ile654Leu) c.1735A>C (p.Ile579Leu) c.2866-2028A>C (n.2866-2028A>C) n.245A>C c.986A>C c.*126A>C (n.*126A>C) n.3769A>C n.2370A>C c.2881A>C (p.Ile961Leu) n.371A>C c.2929A>C (p.Ile977Leu) c.2989A>C (p.Ile997Leu) c.2539A>C (p.Ile847Leu) c.841A>C (p.Ile281Leu) c.2890A>C (p.Ile964Leu) c.2611A>C (p.Ile871Leu) c.2730+3688A>C (n.2730+3688A>C) c.1693A>C (p.Ile565Leu) n.3244A>C | |
13 | g.51946320G>A | CA483894882 | ATP7B | c.*857C>T (n.*857C>T) c.*1768C>T (n.*1768C>T) c.2403C>T (p.Leu801=) c.3024C>T (p.Leu1008=) c.2691C>T (p.Leu897=) c.2772C>T (p.Leu924=) c.2790C>T (p.Leu930=) n.1171C>T n.3387C>T c.1959C>T (p.Leu653=) c.1734C>T (p.Leu578=) c.2866-2029C>T (n.2866-2029C>T) n.244C>T c.985C>T c.*125C>T (n.*125C>T) n.3768C>T n.2369C>T c.2880C>T (p.Leu960=) n.370C>T c.2928C>T (p.Leu976=) c.2988C>T (p.Leu996=) c.2538C>T (p.Leu846=) c.840C>T (p.Leu280=) c.2889C>T (p.Leu963=) c.2610C>T (p.Leu870=) c.2730+3687C>T (n.2730+3687C>T) c.1692C>T (p.Leu564=) n.3243C>T | ClinVar dbSNP COSMIC |
13 | g.51946320G>C | CA483894883 | ATP7B | c.*857C>G (n.*857C>G) c.*1768C>G (n.*1768C>G) c.2403C>G (p.Leu801=) c.3024C>G (p.Leu1008=) c.2691C>G (p.Leu897=) c.2772C>G (p.Leu924=) c.2790C>G (p.Leu930=) n.1171C>G n.3387C>G c.1959C>G (p.Leu653=) c.1734C>G (p.Leu578=) c.2866-2029C>G (n.2866-2029C>G) n.244C>G c.985C>G c.*125C>G (n.*125C>G) n.3768C>G n.2369C>G c.2880C>G (p.Leu960=) n.370C>G c.2928C>G (p.Leu976=) c.2988C>G (p.Leu996=) c.2538C>G (p.Leu846=) c.840C>G (p.Leu280=) c.2889C>G (p.Leu963=) c.2610C>G (p.Leu870=) c.2730+3687C>G (n.2730+3687C>G) c.1692C>G (p.Leu564=) n.3243C>G | |
13 | g.51946320G>T | CA483894884 | ATP7B | c.*857C>A (n.*857C>A) c.*1768C>A (n.*1768C>A) c.2403C>A (p.Leu801=) c.3024C>A (p.Leu1008=) c.2691C>A (p.Leu897=) c.2772C>A (p.Leu924=) c.2790C>A (p.Leu930=) n.1171C>A n.3387C>A c.1959C>A (p.Leu653=) c.1734C>A (p.Leu578=) c.2866-2029C>A (n.2866-2029C>A) n.244C>A c.985C>A c.*125C>A (n.*125C>A) n.3768C>A n.2369C>A c.2880C>A (p.Leu960=) n.370C>A c.2928C>A (p.Leu976=) c.2988C>A (p.Leu996=) c.2538C>A (p.Leu846=) c.840C>A (p.Leu280=) c.2889C>A (p.Leu963=) c.2610C>A (p.Leu870=) c.2730+3687C>A (n.2730+3687C>A) c.1692C>A (p.Leu564=) n.3243C>A | |
13 | g.51946321A>C | CA388031933 | ATP7B | c.*856T>G (n.*856T>G) c.*1767T>G (n.*1767T>G) c.2402T>G (p.Leu801Arg) c.3023T>G (p.Leu1008Arg) c.2690T>G (p.Leu897Arg) c.2771T>G (p.Leu924Arg) c.2789T>G (p.Leu930Arg) n.1170T>G n.3386T>G c.1958T>G (p.Leu653Arg) c.1733T>G (p.Leu578Arg) c.2866-2030T>G (n.2866-2030T>G) n.243T>G c.984T>G c.*124T>G (n.*124T>G) n.3767T>G n.2368T>G c.2879T>G (p.Leu960Arg) n.369T>G c.2927T>G (p.Leu976Arg) c.2987T>G (p.Leu996Arg) c.2537T>G (p.Leu846Arg) c.839T>G (p.Leu280Arg) c.2888T>G (p.Leu963Arg) c.2609T>G (p.Leu870Arg) c.2730+3686T>G (n.2730+3686T>G) c.1691T>G (p.Leu564Arg) n.3242T>G | |
13 | g.51946321A>G | CA388031936 | ATP7B | c.*856T>C (n.*856T>C) c.*1767T>C (n.*1767T>C) c.2402T>C (p.Leu801Pro) c.3023T>C (p.Leu1008Pro) c.2690T>C (p.Leu897Pro) c.2771T>C (p.Leu924Pro) c.2789T>C (p.Leu930Pro) n.1170T>C n.3386T>C c.1958T>C (p.Leu653Pro) c.1733T>C (p.Leu578Pro) c.2866-2030T>C (n.2866-2030T>C) n.243T>C c.984T>C c.*124T>C (n.*124T>C) n.3767T>C n.2368T>C c.2879T>C (p.Leu960Pro) n.369T>C c.2927T>C (p.Leu976Pro) c.2987T>C (p.Leu996Pro) c.2537T>C (p.Leu846Pro) c.839T>C (p.Leu280Pro) c.2888T>C (p.Leu963Pro) c.2609T>C (p.Leu870Pro) c.2730+3686T>C (n.2730+3686T>C) c.1691T>C (p.Leu564Pro) n.3242T>C | gnomAD v4 |
13 | g.51946321A>T | CA388031938 | ATP7B | c.*856T>A (n.*856T>A) c.*1767T>A (n.*1767T>A) c.2402T>A (p.Leu801His) c.3023T>A (p.Leu1008His) c.2690T>A (p.Leu897His) c.2771T>A (p.Leu924His) c.2789T>A (p.Leu930His) n.1170T>A n.3386T>A c.1958T>A (p.Leu653His) c.1733T>A (p.Leu578His) c.2866-2030T>A (n.2866-2030T>A) n.243T>A c.984T>A c.*124T>A (n.*124T>A) n.3767T>A n.2368T>A c.2879T>A (p.Leu960His) n.369T>A c.2927T>A (p.Leu976His) c.2987T>A (p.Leu996His) c.2537T>A (p.Leu846His) c.839T>A (p.Leu280His) c.2888T>A (p.Leu963His) c.2609T>A (p.Leu870His) c.2730+3686T>A (n.2730+3686T>A) c.1691T>A (p.Leu564His) n.3242T>A | |
13 | g.51946322G>A | CA6988836 | ATP7B | c.*855C>T (n.*855C>T) c.*1766C>T (n.*1766C>T) c.2401C>T (p.Leu801Phe) c.3022C>T (p.Leu1008Phe) c.2689C>T (p.Leu897Phe) c.2770C>T (p.Leu924Phe) c.2788C>T (p.Leu930Phe) n.1169C>T n.3385C>T c.1957C>T (p.Leu653Phe) c.1732C>T (p.Leu578Phe) c.2866-2031C>T (n.2866-2031C>T) n.242C>T c.983C>T c.*123C>T (n.*123C>T) n.3766C>T n.2367C>T c.2878C>T (p.Leu960Phe) n.368C>T c.2926C>T (p.Leu976Phe) c.2986C>T (p.Leu996Phe) c.2536C>T (p.Leu846Phe) c.838C>T (p.Leu280Phe) c.2887C>T (p.Leu963Phe) c.2608C>T (p.Leu870Phe) c.2730+3685C>T (n.2730+3685C>T) c.1690C>T (p.Leu564Phe) n.3241C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51946322G>C | CA388031942 | ATP7B | c.*855C>G (n.*855C>G) c.*1766C>G (n.*1766C>G) c.2401C>G (p.Leu801Val) c.3022C>G (p.Leu1008Val) c.2689C>G (p.Leu897Val) c.2770C>G (p.Leu924Val) c.2788C>G (p.Leu930Val) n.1169C>G n.3385C>G c.1957C>G (p.Leu653Val) c.1732C>G (p.Leu578Val) c.2866-2031C>G (n.2866-2031C>G) n.242C>G c.983C>G c.*123C>G (n.*123C>G) n.3766C>G n.2367C>G c.2878C>G (p.Leu960Val) n.368C>G c.2926C>G (p.Leu976Val) c.2986C>G (p.Leu996Val) c.2536C>G (p.Leu846Val) c.838C>G (p.Leu280Val) c.2887C>G (p.Leu963Val) c.2608C>G (p.Leu870Val) c.2730+3685C>G (n.2730+3685C>G) c.1690C>G (p.Leu564Val) n.3241C>G | |
13 | g.51946322G= | CA2091566137 | ATP7B | c.*855C= (n.*855C=) c.*1766C= (n.*1766C=) c.2401C= (p.Leu801=) c.3022C= (p.Leu1008=) c.2689C= (p.Leu897=) c.2770C= (p.Leu924=) c.2788C= (p.Leu930=) n.1169C= n.3385C= c.1957C= (p.Leu653=) c.1732C= (p.Leu578=) c.2866-2031C= (n.2866-2031C=) n.242C= c.983C= c.*123C= (n.*123C=) n.3766C= n.2367C= c.2878C= (p.Leu960=) n.368C= c.2926C= (p.Leu976=) c.2986C= (p.Leu996=) c.2536C= (p.Leu846=) c.838C= (p.Leu280=) c.2887C= (p.Leu963=) c.2608C= (p.Leu870=) c.2730+3685C= (n.2730+3685C=) c.1690C= (p.Leu564=) n.3241C= | |
13 | g.51946322G>T | CA388031944 | ATP7B | c.*855C>A (n.*855C>A) c.*1766C>A (n.*1766C>A) c.2401C>A (p.Leu801Ile) c.3022C>A (p.Leu1008Ile) c.2689C>A (p.Leu897Ile) c.2770C>A (p.Leu924Ile) c.2788C>A (p.Leu930Ile) n.1169C>A n.3385C>A c.1957C>A (p.Leu653Ile) c.1732C>A (p.Leu578Ile) c.2866-2031C>A (n.2866-2031C>A) n.242C>A c.983C>A c.*123C>A (n.*123C>A) n.3766C>A n.2367C>A c.2878C>A (p.Leu960Ile) n.368C>A c.2926C>A (p.Leu976Ile) c.2986C>A (p.Leu996Ile) c.2536C>A (p.Leu846Ile) c.838C>A (p.Leu280Ile) c.2887C>A (p.Leu963Ile) c.2608C>A (p.Leu870Ile) c.2730+3685C>A (n.2730+3685C>A) c.1690C>A (p.Leu564Ile) n.3241C>A | gnomAD v4 |
13 | g.51946323G>A | CA483894885 | ATP7B | c.*854C>T (n.*854C>T) c.*1765C>T (n.*1765C>T) c.2400C>T (p.Ile800=) c.3021C>T (p.Ile1007=) c.2688C>T (p.Ile896=) c.2769C>T (p.Ile923=) c.2787C>T (p.Ile929=) n.1168C>T n.3384C>T c.1956C>T (p.Ile652=) c.1731C>T (p.Ile577=) c.2866-2032C>T (n.2866-2032C>T) n.241C>T c.982C>T c.*122C>T (n.*122C>T) n.3765C>T n.2366C>T c.2877C>T (p.Ile959=) n.367C>T c.2925C>T (p.Ile975=) c.2985C>T (p.Ile995=) c.2535C>T (p.Ile845=) c.837C>T (p.Ile279=) c.2886C>T (p.Ile962=) c.2607C>T (p.Ile869=) c.2730+3684C>T (n.2730+3684C>T) c.1689C>T (p.Ile563=) n.3240C>T | dbSNP gnomAD v4 |
13 | g.51946323G>C | CA388031955 | ATP7B | c.*854C>G (n.*854C>G) c.*1765C>G (n.*1765C>G) c.2400C>G (p.Ile800Met) c.3021C>G (p.Ile1007Met) c.2688C>G (p.Ile896Met) c.2769C>G (p.Ile923Met) c.2787C>G (p.Ile929Met) n.1168C>G n.3384C>G c.1956C>G (p.Ile652Met) c.1731C>G (p.Ile577Met) c.2866-2032C>G (n.2866-2032C>G) n.241C>G c.982C>G c.*122C>G (n.*122C>G) n.3765C>G n.2366C>G c.2877C>G (p.Ile959Met) n.367C>G c.2925C>G (p.Ile975Met) c.2985C>G (p.Ile995Met) c.2535C>G (p.Ile845Met) c.837C>G (p.Ile279Met) c.2886C>G (p.Ile962Met) c.2607C>G (p.Ile869Met) c.2730+3684C>G (n.2730+3684C>G) c.1689C>G (p.Ile563Met) n.3240C>G | |
13 | g.51946323G= | CA2091566138 | ATP7B | c.*854C= (n.*854C=) c.*1765C= (n.*1765C=) c.2400C= (p.Ile800=) c.3021C= (p.Ile1007=) c.2688C= (p.Ile896=) c.2769C= (p.Ile923=) c.2787C= (p.Ile929=) n.1168C= n.3384C= c.1956C= (p.Ile652=) c.1731C= (p.Ile577=) c.2866-2032C= (n.2866-2032C=) n.241C= c.982C= c.*122C= (n.*122C=) n.3765C= n.2366C= c.2877C= (p.Ile959=) n.367C= c.2925C= (p.Ile975=) c.2985C= (p.Ile995=) c.2535C= (p.Ile845=) c.837C= (p.Ile279=) c.2886C= (p.Ile962=) c.2607C= (p.Ile869=) c.2730+3684C= (n.2730+3684C=) c.1689C= (p.Ile563=) n.3240C= | |
13 | g.51946323G>T | CA483894886 | ATP7B | c.*854C>A (n.*854C>A) c.*1765C>A (n.*1765C>A) c.2400C>A (p.Ile800=) c.3021C>A (p.Ile1007=) c.2688C>A (p.Ile896=) c.2769C>A (p.Ile923=) c.2787C>A (p.Ile929=) n.1168C>A n.3384C>A c.1956C>A (p.Ile652=) c.1731C>A (p.Ile577=) c.2866-2032C>A (n.2866-2032C>A) n.241C>A c.982C>A c.*122C>A (n.*122C>A) n.3765C>A n.2366C>A c.2877C>A (p.Ile959=) n.367C>A c.2925C>A (p.Ile975=) c.2985C>A (p.Ile995=) c.2535C>A (p.Ile845=) c.837C>A (p.Ile279=) c.2886C>A (p.Ile962=) c.2607C>A (p.Ile869=) c.2730+3684C>A (n.2730+3684C>A) c.1689C>A (p.Ile563=) n.3240C>A | ClinVar dbSNP |
13 | g.51946324A>C | CA388031958 | ATP7B | c.*853T>G (n.*853T>G) c.*1764T>G (n.*1764T>G) c.2399T>G (p.Ile800Ser) c.3020T>G (p.Ile1007Ser) c.2687T>G (p.Ile896Ser) c.2768T>G (p.Ile923Ser) c.2786T>G (p.Ile929Ser) n.1167T>G n.3383T>G c.1955T>G (p.Ile652Ser) c.1730T>G (p.Ile577Ser) c.2866-2033T>G (n.2866-2033T>G) n.240T>G c.981T>G c.*121T>G (n.*121T>G) n.3764T>G n.2365T>G c.2876T>G (p.Ile959Ser) n.366T>G c.2924T>G (p.Ile975Ser) c.2984T>G (p.Ile995Ser) c.2534T>G (p.Ile845Ser) c.836T>G (p.Ile279Ser) c.2885T>G (p.Ile962Ser) c.2606T>G (p.Ile869Ser) c.2730+3683T>G (n.2730+3683T>G) c.1688T>G (p.Ile563Ser) n.3239T>G | gnomAD v4 |
13 | g.51946324A>G | CA388031960 | ATP7B | c.*853T>C (n.*853T>C) c.*1764T>C (n.*1764T>C) c.2399T>C (p.Ile800Thr) c.3020T>C (p.Ile1007Thr) c.2687T>C (p.Ile896Thr) c.2768T>C (p.Ile923Thr) c.2786T>C (p.Ile929Thr) n.1167T>C n.3383T>C c.1955T>C (p.Ile652Thr) c.1730T>C (p.Ile577Thr) c.2866-2033T>C (n.2866-2033T>C) n.240T>C c.981T>C c.*121T>C (n.*121T>C) n.3764T>C n.2365T>C c.2876T>C (p.Ile959Thr) n.366T>C c.2924T>C (p.Ile975Thr) c.2984T>C (p.Ile995Thr) c.2534T>C (p.Ile845Thr) c.836T>C (p.Ile279Thr) c.2885T>C (p.Ile962Thr) c.2606T>C (p.Ile869Thr) c.2730+3683T>C (n.2730+3683T>C) c.1688T>C (p.Ile563Thr) n.3239T>C | |
13 | g.51946324A>T | CA388031962 | ATP7B | c.*853T>A (n.*853T>A) c.*1764T>A (n.*1764T>A) c.2399T>A (p.Ile800Asn) c.3020T>A (p.Ile1007Asn) c.2687T>A (p.Ile896Asn) c.2768T>A (p.Ile923Asn) c.2786T>A (p.Ile929Asn) n.1167T>A n.3383T>A c.1955T>A (p.Ile652Asn) c.1730T>A (p.Ile577Asn) c.2866-2033T>A (n.2866-2033T>A) n.240T>A c.981T>A c.*121T>A (n.*121T>A) n.3764T>A n.2365T>A c.2876T>A (p.Ile959Asn) n.366T>A c.2924T>A (p.Ile975Asn) c.2984T>A (p.Ile995Asn) c.2534T>A (p.Ile845Asn) c.836T>A (p.Ile279Asn) c.2885T>A (p.Ile962Asn) c.2606T>A (p.Ile869Asn) c.2730+3683T>A (n.2730+3683T>A) c.1688T>A (p.Ile563Asn) n.3239T>A | gnomAD v4 |
13 | g.51946325T>A | CA388031966 | ATP7B | c.*852A>T (n.*852A>T) c.*1763A>T (n.*1763A>T) c.2398A>T (p.Ile800Phe) c.3019A>T (p.Ile1007Phe) c.2686A>T (p.Ile896Phe) c.2767A>T (p.Ile923Phe) c.2785A>T (p.Ile929Phe) n.1166A>T n.3382A>T c.1954A>T (p.Ile652Phe) c.1729A>T (p.Ile577Phe) c.2866-2034A>T (n.2866-2034A>T) n.239A>T c.980A>T c.*120A>T (n.*120A>T) n.3763A>T n.2364A>T c.2875A>T (p.Ile959Phe) n.365A>T c.2923A>T (p.Ile975Phe) c.2983A>T (p.Ile995Phe) c.2533A>T (p.Ile845Phe) c.835A>T (p.Ile279Phe) c.2884A>T (p.Ile962Phe) c.2605A>T (p.Ile869Phe) c.2730+3682A>T (n.2730+3682A>T) c.1687A>T (p.Ile563Phe) n.3238A>T | |
13 | g.51946325T>C | CA388031967 | ATP7B | c.*852A>G (n.*852A>G) c.*1763A>G (n.*1763A>G) c.2398A>G (p.Ile800Val) c.3019A>G (p.Ile1007Val) c.2686A>G (p.Ile896Val) c.2767A>G (p.Ile923Val) c.2785A>G (p.Ile929Val) n.1166A>G n.3382A>G c.1954A>G (p.Ile652Val) c.1729A>G (p.Ile577Val) c.2866-2034A>G (n.2866-2034A>G) n.239A>G c.980A>G c.*120A>G (n.*120A>G) n.3763A>G n.2364A>G c.2875A>G (p.Ile959Val) n.365A>G c.2923A>G (p.Ile975Val) c.2983A>G (p.Ile995Val) c.2533A>G (p.Ile845Val) c.835A>G (p.Ile279Val) c.2884A>G (p.Ile962Val) c.2605A>G (p.Ile869Val) c.2730+3682A>G (n.2730+3682A>G) c.1687A>G (p.Ile563Val) n.3238A>G | |
13 | g.51946325T>G | CA388031968 | ATP7B | c.*852A>C (n.*852A>C) c.*1763A>C (n.*1763A>C) c.2398A>C (p.Ile800Leu) c.3019A>C (p.Ile1007Leu) c.2686A>C (p.Ile896Leu) c.2767A>C (p.Ile923Leu) c.2785A>C (p.Ile929Leu) n.1166A>C n.3382A>C c.1954A>C (p.Ile652Leu) c.1729A>C (p.Ile577Leu) c.2866-2034A>C (n.2866-2034A>C) n.239A>C c.980A>C c.*120A>C (n.*120A>C) n.3763A>C n.2364A>C c.2875A>C (p.Ile959Leu) n.365A>C c.2923A>C (p.Ile975Leu) c.2983A>C (p.Ile995Leu) c.2533A>C (p.Ile845Leu) c.835A>C (p.Ile279Leu) c.2884A>C (p.Ile962Leu) c.2605A>C (p.Ile869Leu) c.2730+3682A>C (n.2730+3682A>C) c.1687A>C (p.Ile563Leu) n.3238A>C | |
13 | g.51946326G>A | CA483894887 | ATP7B | c.*851C>T (n.*851C>T) c.*1762C>T (n.*1762C>T) c.2397C>T (p.Gly799=) c.3018C>T (p.Gly1006=) c.2685C>T (p.Gly895=) c.2766C>T (p.Gly922=) c.2784C>T (p.Gly928=) n.1165C>T n.3381C>T c.1953C>T (p.Gly651=) c.1728C>T (p.Gly576=) c.2866-2035C>T (n.2866-2035C>T) n.238C>T c.979C>T c.*119C>T (n.*119C>T) n.3762C>T n.2363C>T c.2874C>T (p.Gly958=) n.364C>T c.2922C>T (p.Gly974=) c.2982C>T (p.Gly994=) c.2532C>T (p.Gly844=) c.834C>T (p.Gly278=) c.2883C>T (p.Gly961=) c.2604C>T (p.Gly868=) c.2730+3681C>T (n.2730+3681C>T) c.1686C>T (p.Gly562=) n.3237C>T | gnomAD v4 |
13 | g.51946326G>C | CA483894888 | ATP7B | c.*851C>G (n.*851C>G) c.*1762C>G (n.*1762C>G) c.2397C>G (p.Gly799=) c.3018C>G (p.Gly1006=) c.2685C>G (p.Gly895=) c.2766C>G (p.Gly922=) c.2784C>G (p.Gly928=) n.1165C>G n.3381C>G c.1953C>G (p.Gly651=) c.1728C>G (p.Gly576=) c.2866-2035C>G (n.2866-2035C>G) n.238C>G c.979C>G c.*119C>G (n.*119C>G) n.3762C>G n.2363C>G c.2874C>G (p.Gly958=) n.364C>G c.2922C>G (p.Gly974=) c.2982C>G (p.Gly994=) c.2532C>G (p.Gly844=) c.834C>G (p.Gly278=) c.2883C>G (p.Gly961=) c.2604C>G (p.Gly868=) c.2730+3681C>G (n.2730+3681C>G) c.1686C>G (p.Gly562=) n.3237C>G | |
13 | g.51946326G>T | CA483894889 | ATP7B | c.*851C>A (n.*851C>A) c.*1762C>A (n.*1762C>A) c.2397C>A (p.Gly799=) c.3018C>A (p.Gly1006=) c.2685C>A (p.Gly895=) c.2766C>A (p.Gly922=) c.2784C>A (p.Gly928=) n.1165C>A n.3381C>A c.1953C>A (p.Gly651=) c.1728C>A (p.Gly576=) c.2866-2035C>A (n.2866-2035C>A) n.238C>A c.979C>A c.*119C>A (n.*119C>A) n.3762C>A n.2363C>A c.2874C>A (p.Gly958=) n.364C>A c.2922C>A (p.Gly974=) c.2982C>A (p.Gly994=) c.2532C>A (p.Gly844=) c.834C>A (p.Gly278=) c.2883C>A (p.Gly961=) c.2604C>A (p.Gly868=) c.2730+3681C>A (n.2730+3681C>A) c.1686C>A (p.Gly562=) n.3237C>A | COSMIC |
13 | g.51946327C>A | CA388031969 | ATP7B | c.*850G>T (n.*850G>T) c.*1761G>T (n.*1761G>T) c.2396G>T (p.Gly799Val) c.3017G>T (p.Gly1006Val) c.2684G>T (p.Gly895Val) c.2765G>T (p.Gly922Val) c.2783G>T (p.Gly928Val) n.1164G>T n.3380G>T c.1952G>T (p.Gly651Val) c.1727G>T (p.Gly576Val) c.2866-2036G>T (n.2866-2036G>T) n.237G>T c.978G>T c.*118G>T (n.*118G>T) n.3761G>T n.2362G>T c.2873G>T (p.Gly958Val) n.363G>T c.2921G>T (p.Gly974Val) c.2981G>T (p.Gly994Val) c.2531G>T (p.Gly844Val) c.833G>T (p.Gly278Val) c.2882G>T (p.Gly961Val) c.2603G>T (p.Gly868Val) c.2730+3680G>T (n.2730+3680G>T) c.1685G>T (p.Gly562Val) n.3236G>T | |
13 | g.51946327C= | CA2091566139 | ATP7B | c.*850G= (n.*850G=) c.*1761G= (n.*1761G=) c.2396G= (p.Gly799=) c.3017G= (p.Gly1006=) c.2684G= (p.Gly895=) c.2765G= (p.Gly922=) c.2783G= (p.Gly928=) n.1164G= n.3380G= c.1952G= (p.Gly651=) c.1727G= (p.Gly576=) c.2866-2036G= (n.2866-2036G=) n.237G= c.978G= c.*118G= (n.*118G=) n.3761G= n.2362G= c.2873G= (p.Gly958=) n.363G= c.2921G= (p.Gly974=) c.2981G= (p.Gly994=) c.2531G= (p.Gly844=) c.833G= (p.Gly278=) c.2882G= (p.Gly961=) c.2603G= (p.Gly868=) c.2730+3680G= (n.2730+3680G=) c.1685G= (p.Gly562=) n.3236G= | |
13 | g.51946327C>G | CA388031970 | ATP7B | c.*850G>C (n.*850G>C) c.*1761G>C (n.*1761G>C) c.2396G>C (p.Gly799Ala) c.3017G>C (p.Gly1006Ala) c.2684G>C (p.Gly895Ala) c.2765G>C (p.Gly922Ala) c.2783G>C (p.Gly928Ala) n.1164G>C n.3380G>C c.1952G>C (p.Gly651Ala) c.1727G>C (p.Gly576Ala) c.2866-2036G>C (n.2866-2036G>C) n.237G>C c.978G>C c.*118G>C (n.*118G>C) n.3761G>C n.2362G>C c.2873G>C (p.Gly958Ala) n.363G>C c.2921G>C (p.Gly974Ala) c.2981G>C (p.Gly994Ala) c.2531G>C (p.Gly844Ala) c.833G>C (p.Gly278Ala) c.2882G>C (p.Gly961Ala) c.2603G>C (p.Gly868Ala) c.2730+3680G>C (n.2730+3680G>C) c.1685G>C (p.Gly562Ala) n.3236G>C | dbSNP |
13 | g.51946327C>T | CA388031972 | ATP7B | c.*850G>A (n.*850G>A) c.*1761G>A (n.*1761G>A) c.2396G>A (p.Gly799Asp) c.3017G>A (p.Gly1006Asp) c.2684G>A (p.Gly895Asp) c.2765G>A (p.Gly922Asp) c.2783G>A (p.Gly928Asp) n.1164G>A n.3380G>A c.1952G>A (p.Gly651Asp) c.1727G>A (p.Gly576Asp) c.2866-2036G>A (n.2866-2036G>A) n.237G>A c.978G>A c.*118G>A (n.*118G>A) n.3761G>A n.2362G>A c.2873G>A (p.Gly958Asp) n.363G>A c.2921G>A (p.Gly974Asp) c.2981G>A (p.Gly994Asp) c.2531G>A (p.Gly844Asp) c.833G>A (p.Gly278Asp) c.2882G>A (p.Gly961Asp) c.2603G>A (p.Gly868Asp) c.2730+3680G>A (n.2730+3680G>A) c.1685G>A (p.Gly562Asp) n.3236G>A | ClinVar dbSNP gnomAD v4 |
13 | g.51946328C>A | CA388031974 | ATP7B | c.*849G>T (n.*849G>T) c.*1760G>T (n.*1760G>T) c.2395G>T (p.Gly799Cys) c.3016G>T (p.Gly1006Cys) c.2683G>T (p.Gly895Cys) c.2764G>T (p.Gly922Cys) c.2782G>T (p.Gly928Cys) n.1163G>T n.3379G>T c.1951G>T (p.Gly651Cys) c.1726G>T (p.Gly576Cys) c.2866-2037G>T (n.2866-2037G>T) n.236G>T c.977G>T c.*117G>T (n.*117G>T) n.3760G>T n.2361G>T c.2872G>T (p.Gly958Cys) n.362G>T c.2920G>T (p.Gly974Cys) c.2980G>T (p.Gly994Cys) c.2530G>T (p.Gly844Cys) c.832G>T (p.Gly278Cys) c.2881G>T (p.Gly961Cys) c.2602G>T (p.Gly868Cys) c.2730+3679G>T (n.2730+3679G>T) c.1684G>T (p.Gly562Cys) n.3235G>T | |
13 | g.51946328C= | CA2091566140 | ATP7B | c.*849G= (n.*849G=) c.*1760G= (n.*1760G=) c.2395G= (p.Gly799=) c.3016G= (p.Gly1006=) c.2683G= (p.Gly895=) c.2764G= (p.Gly922=) c.2782G= (p.Gly928=) n.1163G= n.3379G= c.1951G= (p.Gly651=) c.1726G= (p.Gly576=) c.2866-2037G= (n.2866-2037G=) n.236G= c.977G= c.*117G= (n.*117G=) n.3760G= n.2361G= c.2872G= (p.Gly958=) n.362G= c.2920G= (p.Gly974=) c.2980G= (p.Gly994=) c.2530G= (p.Gly844=) c.832G= (p.Gly278=) c.2881G= (p.Gly961=) c.2602G= (p.Gly868=) c.2730+3679G= (n.2730+3679G=) c.1684G= (p.Gly562=) n.3235G= | |
13 | g.51946328C>G | CA388031975 | ATP7B | c.*849G>C (n.*849G>C) c.*1760G>C (n.*1760G>C) c.2395G>C (p.Gly799Arg) c.3016G>C (p.Gly1006Arg) c.2683G>C (p.Gly895Arg) c.2764G>C (p.Gly922Arg) c.2782G>C (p.Gly928Arg) n.1163G>C n.3379G>C c.1951G>C (p.Gly651Arg) c.1726G>C (p.Gly576Arg) c.2866-2037G>C (n.2866-2037G>C) n.236G>C c.977G>C c.*117G>C (n.*117G>C) n.3760G>C n.2361G>C c.2872G>C (p.Gly958Arg) n.362G>C c.2920G>C (p.Gly974Arg) c.2980G>C (p.Gly994Arg) c.2530G>C (p.Gly844Arg) c.832G>C (p.Gly278Arg) c.2881G>C (p.Gly961Arg) c.2602G>C (p.Gly868Arg) c.2730+3679G>C (n.2730+3679G>C) c.1684G>C (p.Gly562Arg) n.3235G>C | |
13 | g.51946328C>T | CA6988837 | ATP7B | c.*849G>A (n.*849G>A) c.*1760G>A (n.*1760G>A) c.2395G>A (p.Gly799Ser) c.3016G>A (p.Gly1006Ser) c.2683G>A (p.Gly895Ser) c.2764G>A (p.Gly922Ser) c.2782G>A (p.Gly928Ser) n.1163G>A n.3379G>A c.1951G>A (p.Gly651Ser) c.1726G>A (p.Gly576Ser) c.2866-2037G>A (n.2866-2037G>A) n.236G>A c.977G>A c.*117G>A (n.*117G>A) n.3760G>A n.2361G>A c.2872G>A (p.Gly958Ser) n.362G>A c.2920G>A (p.Gly974Ser) c.2980G>A (p.Gly994Ser) c.2530G>A (p.Gly844Ser) c.832G>A (p.Gly278Ser) c.2881G>A (p.Gly961Ser) c.2602G>A (p.Gly868Ser) c.2730+3679G>A (n.2730+3679G>A) c.1684G>A (p.Gly562Ser) n.3235G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946329G>A | CA260134 | ATP7B | c.*848C>T (n.*848C>T) c.*1759C>T (n.*1759C>T) c.2394C>T (p.Asn798=) c.3015C>T (p.Asn1005=) c.2682C>T (p.Asn894=) c.2763C>T (p.Asn921=) c.2781C>T (p.Asn927=) n.1162C>T n.3378C>T c.1950C>T (p.Asn650=) c.1725C>T (p.Asn575=) c.2866-2038C>T (n.2866-2038C>T) n.235C>T c.976C>T c.*116C>T (n.*116C>T) n.3759C>T n.2360C>T c.2871C>T (p.Asn957=) n.361C>T c.2919C>T (p.Asn973=) c.2979C>T (p.Asn993=) c.2529C>T (p.Asn843=) c.831C>T (p.Asn277=) c.2880C>T (p.Asn960=) c.2601C>T (p.Asn867=) c.2730+3678C>T (n.2730+3678C>T) c.1683C>T (p.Asn561=) n.3234C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946329G>C | CA388031983 | ATP7B | c.*848C>G (n.*848C>G) c.*1759C>G (n.*1759C>G) c.2394C>G (p.Asn798Lys) c.3015C>G (p.Asn1005Lys) c.2682C>G (p.Asn894Lys) c.2763C>G (p.Asn921Lys) c.2781C>G (p.Asn927Lys) n.1162C>G n.3378C>G c.1950C>G (p.Asn650Lys) c.1725C>G (p.Asn575Lys) c.2866-2038C>G (n.2866-2038C>G) n.235C>G c.976C>G c.*116C>G (n.*116C>G) n.3759C>G n.2360C>G c.2871C>G (p.Asn957Lys) n.361C>G c.2919C>G (p.Asn973Lys) c.2979C>G (p.Asn993Lys) c.2529C>G (p.Asn843Lys) c.831C>G (p.Asn277Lys) c.2880C>G (p.Asn960Lys) c.2601C>G (p.Asn867Lys) c.2730+3678C>G (n.2730+3678C>G) c.1683C>G (p.Asn561Lys) n.3234C>G | |
13 | g.51946329G= | CA2091566141 | ATP7B | c.*848C= (n.*848C=) c.*1759C= (n.*1759C=) c.2394C= (p.Asn798=) c.3015C= (p.Asn1005=) c.2682C= (p.Asn894=) c.2763C= (p.Asn921=) c.2781C= (p.Asn927=) n.1162C= n.3378C= c.1950C= (p.Asn650=) c.1725C= (p.Asn575=) c.2866-2038C= (n.2866-2038C=) n.235C= c.976C= c.*116C= (n.*116C=) n.3759C= n.2360C= c.2871C= (p.Asn957=) n.361C= c.2919C= (p.Asn973=) c.2979C= (p.Asn993=) c.2529C= (p.Asn843=) c.831C= (p.Asn277=) c.2880C= (p.Asn960=) c.2601C= (p.Asn867=) c.2730+3678C= (n.2730+3678C=) c.1683C= (p.Asn561=) n.3234C= | |
13 | g.51946329G>T | CA388031980 | ATP7B | c.*848C>A (n.*848C>A) c.*1759C>A (n.*1759C>A) c.2394C>A (p.Asn798Lys) c.3015C>A (p.Asn1005Lys) c.2682C>A (p.Asn894Lys) c.2763C>A (p.Asn921Lys) c.2781C>A (p.Asn927Lys) n.1162C>A n.3378C>A c.1950C>A (p.Asn650Lys) c.1725C>A (p.Asn575Lys) c.2866-2038C>A (n.2866-2038C>A) n.235C>A c.976C>A c.*116C>A (n.*116C>A) n.3759C>A n.2360C>A c.2871C>A (p.Asn957Lys) n.361C>A c.2919C>A (p.Asn973Lys) c.2979C>A (p.Asn993Lys) c.2529C>A (p.Asn843Lys) c.831C>A (p.Asn277Lys) c.2880C>A (p.Asn960Lys) c.2601C>A (p.Asn867Lys) c.2730+3678C>A (n.2730+3678C>A) c.1683C>A (p.Asn561Lys) n.3234C>A | |
13 | g.51946330T>A | CA388031984 | ATP7B | c.*847A>T (n.*847A>T) c.*1758A>T (n.*1758A>T) c.2393A>T (p.Asn798Ile) c.3014A>T (p.Asn1005Ile) c.2681A>T (p.Asn894Ile) c.2762A>T (p.Asn921Ile) c.2780A>T (p.Asn927Ile) n.1161A>T n.3377A>T c.1949A>T (p.Asn650Ile) c.1724A>T (p.Asn575Ile) c.2866-2039A>T (n.2866-2039A>T) n.234A>T c.975A>T c.*115A>T (n.*115A>T) n.3758A>T n.2359A>T c.2870A>T (p.Asn957Ile) n.360A>T c.2918A>T (p.Asn973Ile) c.2978A>T (p.Asn993Ile) c.2528A>T (p.Asn843Ile) c.830A>T (p.Asn277Ile) c.2879A>T (p.Asn960Ile) c.2600A>T (p.Asn867Ile) c.2730+3677A>T (n.2730+3677A>T) c.1682A>T (p.Asn561Ile) n.3233A>T | |
13 | g.51946330T>C | CA388031985 | ATP7B | c.*847A>G (n.*847A>G) c.*1758A>G (n.*1758A>G) c.2393A>G (p.Asn798Ser) c.3014A>G (p.Asn1005Ser) c.2681A>G (p.Asn894Ser) c.2762A>G (p.Asn921Ser) c.2780A>G (p.Asn927Ser) n.1161A>G n.3377A>G c.1949A>G (p.Asn650Ser) c.1724A>G (p.Asn575Ser) c.2866-2039A>G (n.2866-2039A>G) n.234A>G c.975A>G c.*115A>G (n.*115A>G) n.3758A>G n.2359A>G c.2870A>G (p.Asn957Ser) n.360A>G c.2918A>G (p.Asn973Ser) c.2978A>G (p.Asn993Ser) c.2528A>G (p.Asn843Ser) c.830A>G (p.Asn277Ser) c.2879A>G (p.Asn960Ser) c.2600A>G (p.Asn867Ser) c.2730+3677A>G (n.2730+3677A>G) c.1682A>G (p.Asn561Ser) n.3233A>G | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51946330T>G | CA388031986 | ATP7B | c.*847A>C (n.*847A>C) c.*1758A>C (n.*1758A>C) c.2393A>C (p.Asn798Thr) c.3014A>C (p.Asn1005Thr) c.2681A>C (p.Asn894Thr) c.2762A>C (p.Asn921Thr) c.2780A>C (p.Asn927Thr) n.1161A>C n.3377A>C c.1949A>C (p.Asn650Thr) c.1724A>C (p.Asn575Thr) c.2866-2039A>C (n.2866-2039A>C) n.234A>C c.975A>C c.*115A>C (n.*115A>C) n.3758A>C n.2359A>C c.2870A>C (p.Asn957Thr) n.360A>C c.2918A>C (p.Asn973Thr) c.2978A>C (p.Asn993Thr) c.2528A>C (p.Asn843Thr) c.830A>C (p.Asn277Thr) c.2879A>C (p.Asn960Thr) c.2600A>C (p.Asn867Thr) c.2730+3677A>C (n.2730+3677A>C) c.1682A>C (p.Asn561Thr) n.3233A>C | |
13 | g.51946330T= | CA2091566142 | ATP7B | c.*847A= (n.*847A=) c.*1758A= (n.*1758A=) c.2393A= (p.Asn798=) c.3014A= (p.Asn1005=) c.2681A= (p.Asn894=) c.2762A= (p.Asn921=) c.2780A= (p.Asn927=) n.1161A= n.3377A= c.1949A= (p.Asn650=) c.1724A= (p.Asn575=) c.2866-2039A= (n.2866-2039A=) n.234A= c.975A= c.*115A= (n.*115A=) n.3758A= n.2359A= c.2870A= (p.Asn957=) n.360A= c.2918A= (p.Asn973=) c.2978A= (p.Asn993=) c.2528A= (p.Asn843=) c.830A= (p.Asn277=) c.2879A= (p.Asn960=) c.2600A= (p.Asn867=) c.2730+3677A= (n.2730+3677A=) c.1682A= (p.Asn561=) n.3233A= | |
13 | g.51946331_51946333del | CA2846911473 | ATP7B | c.*845_*847del (n.*845_*847del) c.*1756_*1758del (n.*1756_*1758del) c.2391_2393del (p.Gln797_Asn798delinsHis) c.3012_3014del (p.Gln1004_Asn1005delinsHis) c.2679_2681del (p.Gln893_Asn894delinsHis) c.2760_2762del (p.Gln920_Asn921delinsHis) c.2778_2780del (p.Gln926_Asn927delinsHis) n.1159_1161del n.3375_3377del c.1947_1949del (p.Gln649_Asn650delinsHis) c.1722_1724del (p.Gln574_Asn575delinsHis) c.2866-2041_2866-2039del (n.2866-2041_2866-2039del) n.232_234del c.973_975del c.*113_*115del (n.*113_*115del) n.3756_3758del n.2357_2359del c.2868_2870del (p.Gln956_Asn957delinsHis) n.358_360del c.2916_2918del (p.Gln972_Asn973delinsHis) c.2976_2978del (p.Gln992_Asn993delinsHis) c.2526_2528del (p.Gln842_Asn843delinsHis) c.828_830del (p.Gln276_Asn277delinsHis) c.2877_2879del (p.Gln959_Asn960delinsHis) c.2598_2600del (p.Gln866_Asn867delinsHis) c.2730+3675_2730+3677del (n.2730+3675_2730+3677del) c.1680_1682del (p.Gln560_Asn561delinsHis) n.3231_3233del | |
13 | g.51946331T>A | CA388031987 | ATP7B | c.*846A>T (n.*846A>T) c.*1757A>T (n.*1757A>T) c.2392A>T (p.Asn798Tyr) c.3013A>T (p.Asn1005Tyr) c.2680A>T (p.Asn894Tyr) c.2761A>T (p.Asn921Tyr) c.2779A>T (p.Asn927Tyr) n.1160A>T n.3376A>T c.1948A>T (p.Asn650Tyr) c.1723A>T (p.Asn575Tyr) c.2866-2040A>T (n.2866-2040A>T) n.233A>T c.974A>T c.*114A>T (n.*114A>T) n.3757A>T n.2358A>T c.2869A>T (p.Asn957Tyr) n.359A>T c.2917A>T (p.Asn973Tyr) c.2977A>T (p.Asn993Tyr) c.2527A>T (p.Asn843Tyr) c.829A>T (p.Asn277Tyr) c.2878A>T (p.Asn960Tyr) c.2599A>T (p.Asn867Tyr) c.2730+3676A>T (n.2730+3676A>T) c.1681A>T (p.Asn561Tyr) n.3232A>T | |
13 | g.51946331T>C | CA388031988 | ATP7B | c.*846A>G (n.*846A>G) c.*1757A>G (n.*1757A>G) c.2392A>G (p.Asn798Asp) c.3013A>G (p.Asn1005Asp) c.2680A>G (p.Asn894Asp) c.2761A>G (p.Asn921Asp) c.2779A>G (p.Asn927Asp) n.1160A>G n.3376A>G c.1948A>G (p.Asn650Asp) c.1723A>G (p.Asn575Asp) c.2866-2040A>G (n.2866-2040A>G) n.233A>G c.974A>G c.*114A>G (n.*114A>G) n.3757A>G n.2358A>G c.2869A>G (p.Asn957Asp) n.359A>G c.2917A>G (p.Asn973Asp) c.2977A>G (p.Asn993Asp) c.2527A>G (p.Asn843Asp) c.829A>G (p.Asn277Asp) c.2878A>G (p.Asn960Asp) c.2599A>G (p.Asn867Asp) c.2730+3676A>G (n.2730+3676A>G) c.1681A>G (p.Asn561Asp) n.3232A>G | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51946331T>G | CA388031991 | ATP7B | c.*846A>C (n.*846A>C) c.*1757A>C (n.*1757A>C) c.2392A>C (p.Asn798His) c.3013A>C (p.Asn1005His) c.2680A>C (p.Asn894His) c.2761A>C (p.Asn921His) c.2779A>C (p.Asn927His) n.1160A>C n.3376A>C c.1948A>C (p.Asn650His) c.1723A>C (p.Asn575His) c.2866-2040A>C (n.2866-2040A>C) n.233A>C c.974A>C c.*114A>C (n.*114A>C) n.3757A>C n.2358A>C c.2869A>C (p.Asn957His) n.359A>C c.2917A>C (p.Asn973His) c.2977A>C (p.Asn993His) c.2527A>C (p.Asn843His) c.829A>C (p.Asn277His) c.2878A>C (p.Asn960His) c.2599A>C (p.Asn867His) c.2730+3676A>C (n.2730+3676A>C) c.1681A>C (p.Asn561His) n.3232A>C | |
13 | g.51946331T= | CA2091566143 | ATP7B | c.*846A= (n.*846A=) c.*1757A= (n.*1757A=) c.2392A= (p.Asn798=) c.3013A= (p.Asn1005=) c.2680A= (p.Asn894=) c.2761A= (p.Asn921=) c.2779A= (p.Asn927=) n.1160A= n.3376A= c.1948A= (p.Asn650=) c.1723A= (p.Asn575=) c.2866-2040A= (n.2866-2040A=) n.233A= c.974A= c.*114A= (n.*114A=) n.3757A= n.2358A= c.2869A= (p.Asn957=) n.359A= c.2917A= (p.Asn973=) c.2977A= (p.Asn993=) c.2527A= (p.Asn843=) c.829A= (p.Asn277=) c.2878A= (p.Asn960=) c.2599A= (p.Asn867=) c.2730+3676A= (n.2730+3676A=) c.1681A= (p.Asn561=) n.3232A= | |
13 | g.51946332C>A | CA388031995 | ATP7B | c.*845G>T (n.*845G>T) c.*1756G>T (n.*1756G>T) c.2391G>T (p.Gln797His) c.3012G>T (p.Gln1004His) c.2679G>T (p.Gln893His) c.2760G>T (p.Gln920His) c.2778G>T (p.Gln926His) n.1159G>T n.3375G>T c.1947G>T (p.Gln649His) c.1722G>T (p.Gln574His) c.2866-2041G>T (n.2866-2041G>T) n.232G>T c.973G>T c.*113G>T (n.*113G>T) n.3756G>T n.2357G>T c.2868G>T (p.Gln956His) n.358G>T c.2916G>T (p.Gln972His) c.2976G>T (p.Gln992His) c.2526G>T (p.Gln842His) c.828G>T (p.Gln276His) c.2877G>T (p.Gln959His) c.2598G>T (p.Gln866His) c.2730+3675G>T (n.2730+3675G>T) c.1680G>T (p.Gln560His) n.3231G>T | dbSNP |
13 | g.51946332C= | CA2091566144 | ATP7B | c.*845G= (n.*845G=) c.*1756G= (n.*1756G=) c.2391G= (p.Gln797=) c.3012G= (p.Gln1004=) c.2679G= (p.Gln893=) c.2760G= (p.Gln920=) c.2778G= (p.Gln926=) n.1159G= n.3375G= c.1947G= (p.Gln649=) c.1722G= (p.Gln574=) c.2866-2041G= (n.2866-2041G=) n.232G= c.973G= c.*113G= (n.*113G=) n.3756G= n.2357G= c.2868G= (p.Gln956=) n.358G= c.2916G= (p.Gln972=) c.2976G= (p.Gln992=) c.2526G= (p.Gln842=) c.828G= (p.Gln276=) c.2877G= (p.Gln959=) c.2598G= (p.Gln866=) c.2730+3675G= (n.2730+3675G=) c.1680G= (p.Gln560=) n.3231G= | |
13 | g.51946332C>G | CA388032001 | ATP7B | c.*845G>C (n.*845G>C) c.*1756G>C (n.*1756G>C) c.2391G>C (p.Gln797His) c.3012G>C (p.Gln1004His) c.2679G>C (p.Gln893His) c.2760G>C (p.Gln920His) c.2778G>C (p.Gln926His) n.1159G>C n.3375G>C c.1947G>C (p.Gln649His) c.1722G>C (p.Gln574His) c.2866-2041G>C (n.2866-2041G>C) n.232G>C c.973G>C c.*113G>C (n.*113G>C) n.3756G>C n.2357G>C c.2868G>C (p.Gln956His) n.358G>C c.2916G>C (p.Gln972His) c.2976G>C (p.Gln992His) c.2526G>C (p.Gln842His) c.828G>C (p.Gln276His) c.2877G>C (p.Gln959His) c.2598G>C (p.Gln866His) c.2730+3675G>C (n.2730+3675G>C) c.1680G>C (p.Gln560His) n.3231G>C | |
13 | g.51946332C>T | CA483894890 | ATP7B | c.*845G>A (n.*845G>A) c.*1756G>A (n.*1756G>A) c.2391G>A (p.Gln797=) c.3012G>A (p.Gln1004=) c.2679G>A (p.Gln893=) c.2760G>A (p.Gln920=) c.2778G>A (p.Gln926=) n.1159G>A n.3375G>A c.1947G>A (p.Gln649=) c.1722G>A (p.Gln574=) c.2866-2041G>A (n.2866-2041G>A) n.232G>A c.973G>A c.*113G>A (n.*113G>A) n.3756G>A n.2357G>A c.2868G>A (p.Gln956=) n.358G>A c.2916G>A (p.Gln972=) c.2976G>A (p.Gln992=) c.2526G>A (p.Gln842=) c.828G>A (p.Gln276=) c.2877G>A (p.Gln959=) c.2598G>A (p.Gln866=) c.2730+3675G>A (n.2730+3675G>A) c.1680G>A (p.Gln560=) n.3231G>A | gnomAD v4 |
13 | g.51946333T>A | CA388032003 | ATP7B | c.*844A>T (n.*844A>T) c.*1755A>T (n.*1755A>T) c.2390A>T (p.Gln797Leu) c.3011A>T (p.Gln1004Leu) c.2678A>T (p.Gln893Leu) c.2759A>T (p.Gln920Leu) c.2777A>T (p.Gln926Leu) n.1158A>T n.3374A>T c.1946A>T (p.Gln649Leu) c.1721A>T (p.Gln574Leu) c.2866-2042A>T (n.2866-2042A>T) n.231A>T c.972A>T c.*112A>T (n.*112A>T) n.3755A>T n.2356A>T c.2867A>T (p.Gln956Leu) n.357A>T c.2915A>T (p.Gln972Leu) c.2975A>T (p.Gln992Leu) c.2525A>T (p.Gln842Leu) c.827A>T (p.Gln276Leu) c.2876A>T (p.Gln959Leu) c.2597A>T (p.Gln866Leu) c.2730+3674A>T (n.2730+3674A>T) c.1679A>T (p.Gln560Leu) n.3230A>T | gnomAD v4 |
13 | g.51946333T>C | CA388032008 | ATP7B | c.*844A>G (n.*844A>G) c.*1755A>G (n.*1755A>G) c.2390A>G (p.Gln797Arg) c.3011A>G (p.Gln1004Arg) c.2678A>G (p.Gln893Arg) c.2759A>G (p.Gln920Arg) c.2777A>G (p.Gln926Arg) n.1158A>G n.3374A>G c.1946A>G (p.Gln649Arg) c.1721A>G (p.Gln574Arg) c.2866-2042A>G (n.2866-2042A>G) n.231A>G c.972A>G c.*112A>G (n.*112A>G) n.3755A>G n.2356A>G c.2867A>G (p.Gln956Arg) n.357A>G c.2915A>G (p.Gln972Arg) c.2975A>G (p.Gln992Arg) c.2525A>G (p.Gln842Arg) c.827A>G (p.Gln276Arg) c.2876A>G (p.Gln959Arg) c.2597A>G (p.Gln866Arg) c.2730+3674A>G (n.2730+3674A>G) c.1679A>G (p.Gln560Arg) n.3230A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946333T>G | CA271174 | ATP7B | c.*844A>C (n.*844A>C) c.*1755A>C (n.*1755A>C) c.2390A>C (p.Gln797Pro) c.3011A>C (p.Gln1004Pro) c.2678A>C (p.Gln893Pro) c.2759A>C (p.Gln920Pro) c.2777A>C (p.Gln926Pro) n.1158A>C n.3374A>C c.1946A>C (p.Gln649Pro) c.1721A>C (p.Gln574Pro) c.2866-2042A>C (n.2866-2042A>C) n.231A>C c.972A>C c.*112A>C (n.*112A>C) n.3755A>C n.2356A>C c.2867A>C (p.Gln956Pro) n.357A>C c.2915A>C (p.Gln972Pro) c.2975A>C (p.Gln992Pro) c.2525A>C (p.Gln842Pro) c.827A>C (p.Gln276Pro) c.2876A>C (p.Gln959Pro) c.2597A>C (p.Gln866Pro) c.2730+3674A>C (n.2730+3674A>C) c.1679A>C (p.Gln560Pro) n.3230A>C | ClinVar dbSNP |
13 | g.51946333T= | CA2091566145 | ATP7B | c.*844A= (n.*844A=) c.*1755A= (n.*1755A=) c.2390A= (p.Gln797=) c.3011A= (p.Gln1004=) c.2678A= (p.Gln893=) c.2759A= (p.Gln920=) c.2777A= (p.Gln926=) n.1158A= n.3374A= c.1946A= (p.Gln649=) c.1721A= (p.Gln574=) c.2866-2042A= (n.2866-2042A=) n.231A= c.972A= c.*112A= (n.*112A=) n.3755A= n.2356A= c.2867A= (p.Gln956=) n.357A= c.2915A= (p.Gln972=) c.2975A= (p.Gln992=) c.2525A= (p.Gln842=) c.827A= (p.Gln276=) c.2876A= (p.Gln959=) c.2597A= (p.Gln866=) c.2730+3674A= (n.2730+3674A=) c.1679A= (p.Gln560=) n.3230A= | |
13 | g.51946336_51946351del | CA2695218763 | ATP7B | c.*829_*844del (n.*829_*844del) c.*1740_*1755del (n.*1740_*1755del) c.2375_2390del (p.Thr792ArgfsTer18) c.2996_3011del (p.Thr999ArgfsTer18) c.2663_2678del (p.Thr888ArgfsTer18) c.2744_2759del (p.Thr915ArgfsTer18) c.2762_2777del (p.Thr921ArgfsTer18) n.1143_1158del n.3359_3374del c.1931_1946del (p.Thr644ArgfsTer18) c.1706_1721del (p.Thr569ArgfsTer18) c.2866-2057_2866-2042del (n.2866-2057_2866-2042del) n.216_231del c.957_972del c.*97_*112del (n.*97_*112del) n.3740_3755del n.2341_2356del c.2852_2867del (p.Thr951ArgfsTer18) n.342_357del c.2900_2915del (p.Thr967ArgfsTer18) c.2960_2975del (p.Thr987ArgfsTer18) c.2510_2525del (p.Thr837ArgfsTer18) c.812_827del (p.Thr271ArgfsTer18) c.812_827del (p.Thr271ArgfsTer?) c.2861_2876del (p.Thr954ArgfsTer18) c.2996_3011del (p.Thr999ArgfsTer?) c.2582_2597del (p.Thr861ArgfsTer18) c.2730+3659_2730+3674del (n.2730+3659_2730+3674del) c.1664_1679del (p.Thr555ArgfsTer18) n.3215_3230del | |
13 | g.51946334G>A | CA388032011 | ATP7B | c.*843C>T (n.*843C>T) c.*1754C>T (n.*1754C>T) c.2389C>T (p.Gln797Ter) c.3010C>T (p.Gln1004Ter) c.2677C>T (p.Gln893Ter) c.2758C>T (p.Gln920Ter) c.2776C>T (p.Gln926Ter) n.1157C>T n.3373C>T c.1945C>T (p.Gln649Ter) c.1720C>T (p.Gln574Ter) c.2866-2043C>T (n.2866-2043C>T) n.230C>T c.971C>T c.*111C>T (n.*111C>T) n.3754C>T n.2355C>T c.2866C>T (p.Gln956Ter) n.356C>T c.2914C>T (p.Gln972Ter) c.2974C>T (p.Gln992Ter) c.2524C>T (p.Gln842Ter) c.826C>T (p.Gln276Ter) c.2875C>T (p.Gln959Ter) c.2596C>T (p.Gln866Ter) c.2730+3673C>T (n.2730+3673C>T) c.1678C>T (p.Gln560Ter) n.3229C>T | ClinVar dbSNP |
13 | g.51946334G>C | CA388032018 | ATP7B | c.*843C>G (n.*843C>G) c.*1754C>G (n.*1754C>G) c.2389C>G (p.Gln797Glu) c.3010C>G (p.Gln1004Glu) c.2677C>G (p.Gln893Glu) c.2758C>G (p.Gln920Glu) c.2776C>G (p.Gln926Glu) n.1157C>G n.3373C>G c.1945C>G (p.Gln649Glu) c.1720C>G (p.Gln574Glu) c.2866-2043C>G (n.2866-2043C>G) n.230C>G c.971C>G c.*111C>G (n.*111C>G) n.3754C>G n.2355C>G c.2866C>G (p.Gln956Glu) n.356C>G c.2914C>G (p.Gln972Glu) c.2974C>G (p.Gln992Glu) c.2524C>G (p.Gln842Glu) c.826C>G (p.Gln276Glu) c.2875C>G (p.Gln959Glu) c.2596C>G (p.Gln866Glu) c.2730+3673C>G (n.2730+3673C>G) c.1678C>G (p.Gln560Glu) n.3229C>G | |
13 | g.51946334G= | CA2091566146 | ATP7B | c.*843C= (n.*843C=) c.*1754C= (n.*1754C=) c.2389C= (p.Gln797=) c.3010C= (p.Gln1004=) c.2677C= (p.Gln893=) c.2758C= (p.Gln920=) c.2776C= (p.Gln926=) n.1157C= n.3373C= c.1945C= (p.Gln649=) c.1720C= (p.Gln574=) c.2866-2043C= (n.2866-2043C=) n.230C= c.971C= c.*111C= (n.*111C=) n.3754C= n.2355C= c.2866C= (p.Gln956=) n.356C= c.2914C= (p.Gln972=) c.2974C= (p.Gln992=) c.2524C= (p.Gln842=) c.826C= (p.Gln276=) c.2875C= (p.Gln959=) c.2596C= (p.Gln866=) c.2730+3673C= (n.2730+3673C=) c.1678C= (p.Gln560=) n.3229C= | |
13 | g.51946334G>T | CA388032020 | ATP7B | c.*843C>A (n.*843C>A) c.*1754C>A (n.*1754C>A) c.2389C>A (p.Gln797Lys) c.3010C>A (p.Gln1004Lys) c.2677C>A (p.Gln893Lys) c.2758C>A (p.Gln920Lys) c.2776C>A (p.Gln926Lys) n.1157C>A n.3373C>A c.1945C>A (p.Gln649Lys) c.1720C>A (p.Gln574Lys) c.2866-2043C>A (n.2866-2043C>A) n.230C>A c.971C>A c.*111C>A (n.*111C>A) n.3754C>A n.2355C>A c.2866C>A (p.Gln956Lys) n.356C>A c.2914C>A (p.Gln972Lys) c.2974C>A (p.Gln992Lys) c.2524C>A (p.Gln842Lys) c.826C>A (p.Gln276Lys) c.2875C>A (p.Gln959Lys) c.2596C>A (p.Gln866Lys) c.2730+3673C>A (n.2730+3673C>A) c.1678C>A (p.Gln560Lys) n.3229C>A | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51946335del | CA2846911474 | ATP7B | c.*842del (n.*842del) c.*1753del (n.*1753del) c.2388del (p.Gln797ArgfsTer18) c.3009del (p.Gln1004ArgfsTer18) c.2676del (p.Gln893ArgfsTer18) c.2757del (p.Gln920ArgfsTer18) c.2775del (p.Gln926ArgfsTer18) n.1156del n.3372del c.1944del (p.Gln649ArgfsTer18) c.1719del (p.Gln574ArgfsTer18) c.2866-2044del (n.2866-2044del) n.229del c.970del c.*110del (n.*110del) n.3753del n.2354del c.2865del (p.Gln956ArgfsTer18) n.355del c.2913del (p.Gln972ArgfsTer18) c.2973del (p.Gln992ArgfsTer18) c.2523del (p.Gln842ArgfsTer18) c.825del (p.Gln276ArgfsTer18) c.825del (p.Gln276ArgfsTer?) c.2874del (p.Gln959ArgfsTer18) c.3009del (p.Gln1004ArgfsTer?) c.2595del (p.Gln866ArgfsTer18) c.2730+3672del (n.2730+3672del) c.1677del (p.Gln560ArgfsTer18) n.3228del | |
13 | g.51946335C>A | CA483894892 | ATP7B | c.*842G>T (n.*842G>T) c.*1753G>T (n.*1753G>T) c.2388G>T (p.Ala796=) c.3009G>T (p.Ala1003=) c.2676G>T (p.Ala892=) c.2757G>T (p.Ala919=) c.2775G>T (p.Ala925=) n.1156G>T n.3372G>T c.1944G>T (p.Ala648=) c.1719G>T (p.Ala573=) c.2866-2044G>T (n.2866-2044G>T) n.229G>T c.970G>T c.*110G>T (n.*110G>T) n.3753G>T n.2354G>T c.2865G>T (p.Ala955=) n.355G>T c.2913G>T (p.Ala971=) c.2973G>T (p.Ala991=) c.2523G>T (p.Ala841=) c.825G>T (p.Ala275=) c.2874G>T (p.Ala958=) c.2595G>T (p.Ala865=) c.2730+3672G>T (n.2730+3672G>T) c.1677G>T (p.Ala559=) n.3228G>T | gnomAD v4 |
13 | g.51946335C= | CA2018046964 | ATP7B | c.*842G= (n.*842G=) c.*1753G= (n.*1753G=) c.2388G= (p.Ala796=) c.3009G= (p.Ala1003=) c.2676G= (p.Ala892=) c.2757G= (p.Ala919=) c.2775G= (p.Ala925=) n.1156G= n.3372G= c.1944G= (p.Ala648=) c.1719G= (p.Ala573=) c.2866-2044G= (n.2866-2044G=) n.229G= c.970G= c.*110G= (n.*110G=) n.3753G= n.2354G= c.2865G= (p.Ala955=) n.355G= c.2913G= (p.Ala971=) c.2973G= (p.Ala991=) c.2523G= (p.Ala841=) c.825G= (p.Ala275=) c.2874G= (p.Ala958=) c.2595G= (p.Ala865=) c.2730+3672G= (n.2730+3672G=) c.1677G= (p.Ala559=) n.3228G= | |
13 | g.51946335C>G | CA483894891 | ATP7B | c.*842G>C (n.*842G>C) c.*1753G>C (n.*1753G>C) c.2388G>C (p.Ala796=) c.3009G>C (p.Ala1003=) c.2676G>C (p.Ala892=) c.2757G>C (p.Ala919=) c.2775G>C (p.Ala925=) n.1156G>C n.3372G>C c.1944G>C (p.Ala648=) c.1719G>C (p.Ala573=) c.2866-2044G>C (n.2866-2044G>C) n.229G>C c.970G>C c.*110G>C (n.*110G>C) n.3753G>C n.2354G>C c.2865G>C (p.Ala955=) n.355G>C c.2913G>C (p.Ala971=) c.2973G>C (p.Ala991=) c.2523G>C (p.Ala841=) c.825G>C (p.Ala275=) c.2874G>C (p.Ala958=) c.2595G>C (p.Ala865=) c.2730+3672G>C (n.2730+3672G>C) c.1677G>C (p.Ala559=) n.3228G>C | dbSNP |
13 | g.51946335C>T | CA145681 | ATP7B | c.*842G>A (n.*842G>A) c.*1753G>A (n.*1753G>A) c.2388G>A (p.Ala796=) c.3009G>A (p.Ala1003=) c.2676G>A (p.Ala892=) c.2757G>A (p.Ala919=) c.2775G>A (p.Ala925=) n.1156G>A n.3372G>A c.1944G>A (p.Ala648=) c.1719G>A (p.Ala573=) c.2866-2044G>A (n.2866-2044G>A) n.229G>A c.970G>A c.*110G>A (n.*110G>A) n.3753G>A n.2354G>A c.2865G>A (p.Ala955=) n.355G>A c.2913G>A (p.Ala971=) c.2973G>A (p.Ala991=) c.2523G>A (p.Ala841=) c.825G>A (p.Ala275=) c.2874G>A (p.Ala958=) c.2595G>A (p.Ala865=) c.2730+3672G>A (n.2730+3672G>A) c.1677G>A (p.Ala559=) n.3228G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946335_51946337delinsTGT | CA2837240920 | ATP7B | c.*840_*842delinsACA (n.*840_*842delinsACA) c.*1751_*1753delinsACA (n.*1751_*1753delinsACA) c.2386_2388delinsACA (p.Ala796Thr) c.3007_3009delinsACA (p.Ala1003Thr) c.2674_2676delinsACA (p.Ala892Thr) c.2755_2757delinsACA (p.Ala919Thr) c.2773_2775delinsACA (p.Ala925Thr) n.1154_1156delinsACA n.3370_3372delinsACA c.1942_1944delinsACA (p.Ala648Thr) c.1717_1719delinsACA (p.Ala573Thr) c.2866-2046_2866-2044delinsACA (n.2866-2046_2866-2044delinsACA) n.227_229delinsACA c.968_970delinsACA c.*108_*110delinsACA (n.*108_*110delinsACA) n.3751_3753delinsACA n.2352_2354delinsACA c.2863_2865delinsACA (p.Ala955Thr) n.353_355delinsACA c.2911_2913delinsACA (p.Ala971Thr) c.2971_2973delinsACA (p.Ala991Thr) c.2521_2523delinsACA (p.Ala841Thr) c.823_825delinsACA (p.Ala275Thr) c.2872_2874delinsACA (p.Ala958Thr) c.2593_2595delinsACA (p.Ala865Thr) c.2730+3670_2730+3672delinsACA (n.2730+3670_2730+3672delinsACA) c.1675_1677delinsACA (p.Ala559Thr) n.3226_3228delinsACA | |
13 | g.51946336G>A | CA273949 | ATP7B | c.*841C>T (n.*841C>T) c.*1752C>T (n.*1752C>T) c.2387C>T (p.Ala796Val) c.3008C>T (p.Ala1003Val) c.2675C>T (p.Ala892Val) c.2756C>T (p.Ala919Val) c.2774C>T (p.Ala925Val) n.1155C>T n.3371C>T c.1943C>T (p.Ala648Val) c.1718C>T (p.Ala573Val) c.2866-2045C>T (n.2866-2045C>T) n.228C>T c.969C>T c.*109C>T (n.*109C>T) n.3752C>T n.2353C>T c.2864C>T (p.Ala955Val) n.354C>T c.2912C>T (p.Ala971Val) c.2972C>T (p.Ala991Val) c.2522C>T (p.Ala841Val) c.824C>T (p.Ala275Val) c.2873C>T (p.Ala958Val) c.2594C>T (p.Ala865Val) c.2730+3671C>T (n.2730+3671C>T) c.1676C>T (p.Ala559Val) n.3227C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.51946336G>C | CA388032023 | ATP7B | c.*841C>G (n.*841C>G) c.*1752C>G (n.*1752C>G) c.2387C>G (p.Ala796Gly) c.3008C>G (p.Ala1003Gly) c.2675C>G (p.Ala892Gly) c.2756C>G (p.Ala919Gly) c.2774C>G (p.Ala925Gly) n.1155C>G n.3371C>G c.1943C>G (p.Ala648Gly) c.1718C>G (p.Ala573Gly) c.2866-2045C>G (n.2866-2045C>G) n.228C>G c.969C>G c.*109C>G (n.*109C>G) n.3752C>G n.2353C>G c.2864C>G (p.Ala955Gly) n.354C>G c.2912C>G (p.Ala971Gly) c.2972C>G (p.Ala991Gly) c.2522C>G (p.Ala841Gly) c.824C>G (p.Ala275Gly) c.2873C>G (p.Ala958Gly) c.2594C>G (p.Ala865Gly) c.2730+3671C>G (n.2730+3671C>G) c.1676C>G (p.Ala559Gly) n.3227C>G | ClinVar gnomAD v4 |
13 | g.51946336G= | CA2091566147 | ATP7B | c.*841C= (n.*841C=) c.*1752C= (n.*1752C=) c.2387C= (p.Ala796=) c.3008C= (p.Ala1003=) c.2675C= (p.Ala892=) c.2756C= (p.Ala919=) c.2774C= (p.Ala925=) n.1155C= n.3371C= c.1943C= (p.Ala648=) c.1718C= (p.Ala573=) c.2866-2045C= (n.2866-2045C=) n.228C= c.969C= c.*109C= (n.*109C=) n.3752C= n.2353C= c.2864C= (p.Ala955=) n.354C= c.2912C= (p.Ala971=) c.2972C= (p.Ala991=) c.2522C= (p.Ala841=) c.824C= (p.Ala275=) c.2873C= (p.Ala958=) c.2594C= (p.Ala865=) c.2730+3671C= (n.2730+3671C=) c.1676C= (p.Ala559=) n.3227C= | |
13 | g.51946336G>T | CA388032024 | ATP7B | c.*841C>A (n.*841C>A) c.*1752C>A (n.*1752C>A) c.2387C>A (p.Ala796Glu) c.3008C>A (p.Ala1003Glu) c.2675C>A (p.Ala892Glu) c.2756C>A (p.Ala919Glu) c.2774C>A (p.Ala925Glu) n.1155C>A n.3371C>A c.1943C>A (p.Ala648Glu) c.1718C>A (p.Ala573Glu) c.2866-2045C>A (n.2866-2045C>A) n.228C>A c.969C>A c.*109C>A (n.*109C>A) n.3752C>A n.2353C>A c.2864C>A (p.Ala955Glu) n.354C>A c.2912C>A (p.Ala971Glu) c.2972C>A (p.Ala991Glu) c.2522C>A (p.Ala841Glu) c.824C>A (p.Ala275Glu) c.2873C>A (p.Ala958Glu) c.2594C>A (p.Ala865Glu) c.2730+3671C>A (n.2730+3671C>A) c.1676C>A (p.Ala559Glu) n.3227C>A | |
13 | g.51946337C>A | CA388032025 | ATP7B | c.*840G>T (n.*840G>T) c.*1751G>T (n.*1751G>T) c.2386G>T (p.Ala796Ser) c.3007G>T (p.Ala1003Ser) c.2674G>T (p.Ala892Ser) c.2755G>T (p.Ala919Ser) c.2773G>T (p.Ala925Ser) n.1154G>T n.3370G>T c.1942G>T (p.Ala648Ser) c.1717G>T (p.Ala573Ser) c.2866-2046G>T (n.2866-2046G>T) n.227G>T c.968G>T c.*108G>T (n.*108G>T) n.3751G>T n.2352G>T c.2863G>T (p.Ala955Ser) n.353G>T c.2911G>T (p.Ala971Ser) c.2971G>T (p.Ala991Ser) c.2521G>T (p.Ala841Ser) c.823G>T (p.Ala275Ser) c.2872G>T (p.Ala958Ser) c.2593G>T (p.Ala865Ser) c.2730+3670G>T (n.2730+3670G>T) c.1675G>T (p.Ala559Ser) n.3226G>T | gnomAD v4 |
13 | g.51946337C= | CA2091566148 | ATP7B | c.*840G= (n.*840G=) c.*1751G= (n.*1751G=) c.2386G= (p.Ala796=) c.3007G= (p.Ala1003=) c.2674G= (p.Ala892=) c.2755G= (p.Ala919=) c.2773G= (p.Ala925=) n.1154G= n.3370G= c.1942G= (p.Ala648=) c.1717G= (p.Ala573=) c.2866-2046G= (n.2866-2046G=) n.227G= c.968G= c.*108G= (n.*108G=) n.3751G= n.2352G= c.2863G= (p.Ala955=) n.353G= c.2911G= (p.Ala971=) c.2971G= (p.Ala991=) c.2521G= (p.Ala841=) c.823G= (p.Ala275=) c.2872G= (p.Ala958=) c.2593G= (p.Ala865=) c.2730+3670G= (n.2730+3670G=) c.1675G= (p.Ala559=) n.3226G= | |
13 | g.51946337C>G | CA388032027 | ATP7B | c.*840G>C (n.*840G>C) c.*1751G>C (n.*1751G>C) c.2386G>C (p.Ala796Pro) c.3007G>C (p.Ala1003Pro) c.2674G>C (p.Ala892Pro) c.2755G>C (p.Ala919Pro) c.2773G>C (p.Ala925Pro) n.1154G>C n.3370G>C c.1942G>C (p.Ala648Pro) c.1717G>C (p.Ala573Pro) c.2866-2046G>C (n.2866-2046G>C) n.227G>C c.968G>C c.*108G>C (n.*108G>C) n.3751G>C n.2352G>C c.2863G>C (p.Ala955Pro) n.353G>C c.2911G>C (p.Ala971Pro) c.2971G>C (p.Ala991Pro) c.2521G>C (p.Ala841Pro) c.823G>C (p.Ala275Pro) c.2872G>C (p.Ala958Pro) c.2593G>C (p.Ala865Pro) c.2730+3670G>C (n.2730+3670G>C) c.1675G>C (p.Ala559Pro) n.3226G>C | ClinVar dbSNP gnomAD v4 |
13 | g.51946337C>T | CA273980 | ATP7B | c.*840G>A (n.*840G>A) c.*1751G>A (n.*1751G>A) c.2386G>A (p.Ala796Thr) c.3007G>A (p.Ala1003Thr) c.2674G>A (p.Ala892Thr) c.2755G>A (p.Ala919Thr) c.2773G>A (p.Ala925Thr) n.1154G>A n.3370G>A c.1942G>A (p.Ala648Thr) c.1717G>A (p.Ala573Thr) c.2866-2046G>A (n.2866-2046G>A) n.227G>A c.968G>A c.*108G>A (n.*108G>A) n.3751G>A n.2352G>A c.2863G>A (p.Ala955Thr) n.353G>A c.2911G>A (p.Ala971Thr) c.2971G>A (p.Ala991Thr) c.2521G>A (p.Ala841Thr) c.823G>A (p.Ala275Thr) c.2872G>A (p.Ala958Thr) c.2593G>A (p.Ala865Thr) c.2730+3670G>A (n.2730+3670G>A) c.1675G>A (p.Ala559Thr) n.3226G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946338G>A | CA6988838 | ATP7B | c.*839C>T (n.*839C>T) c.*1750C>T (n.*1750C>T) c.2385C>T (p.Ala795=) c.3006C>T (p.Ala1002=) c.2673C>T (p.Ala891=) c.2754C>T (p.Ala918=) c.2772C>T (p.Ala924=) n.1153C>T n.3369C>T c.1941C>T (p.Ala647=) c.1716C>T (p.Ala572=) c.2866-2047C>T (n.2866-2047C>T) n.226C>T c.967C>T c.*107C>T (n.*107C>T) n.3750C>T n.2351C>T c.2862C>T (p.Ala954=) n.352C>T c.2910C>T (p.Ala970=) c.2970C>T (p.Ala990=) c.2520C>T (p.Ala840=) c.822C>T (p.Ala274=) c.2871C>T (p.Ala957=) c.2592C>T (p.Ala864=) c.2730+3669C>T (n.2730+3669C>T) c.1674C>T (p.Ala558=) n.3225C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946338G>C | CA483894895 | ATP7B | c.*839C>G (n.*839C>G) c.*1750C>G (n.*1750C>G) c.2385C>G (p.Ala795=) c.3006C>G (p.Ala1002=) c.2673C>G (p.Ala891=) c.2754C>G (p.Ala918=) c.2772C>G (p.Ala924=) n.1153C>G n.3369C>G c.1941C>G (p.Ala647=) c.1716C>G (p.Ala572=) c.2866-2047C>G (n.2866-2047C>G) n.226C>G c.967C>G c.*107C>G (n.*107C>G) n.3750C>G n.2351C>G c.2862C>G (p.Ala954=) n.352C>G c.2910C>G (p.Ala970=) c.2970C>G (p.Ala990=) c.2520C>G (p.Ala840=) c.822C>G (p.Ala274=) c.2871C>G (p.Ala957=) c.2592C>G (p.Ala864=) c.2730+3669C>G (n.2730+3669C>G) c.1674C>G (p.Ala558=) n.3225C>G | |
13 | g.51946338G= | CA2091566149 | ATP7B | c.*839C= (n.*839C=) c.*1750C= (n.*1750C=) c.2385C= (p.Ala795=) c.3006C= (p.Ala1002=) c.2673C= (p.Ala891=) c.2754C= (p.Ala918=) c.2772C= (p.Ala924=) n.1153C= n.3369C= c.1941C= (p.Ala647=) c.1716C= (p.Ala572=) c.2866-2047C= (n.2866-2047C=) n.226C= c.967C= c.*107C= (n.*107C=) n.3750C= n.2351C= c.2862C= (p.Ala954=) n.352C= c.2910C= (p.Ala970=) c.2970C= (p.Ala990=) c.2520C= (p.Ala840=) c.822C= (p.Ala274=) c.2871C= (p.Ala957=) c.2592C= (p.Ala864=) c.2730+3669C= (n.2730+3669C=) c.1674C= (p.Ala558=) n.3225C= | |
13 | g.51946338G>T | CA483894893 | ATP7B | c.*839C>A (n.*839C>A) c.*1750C>A (n.*1750C>A) c.2385C>A (p.Ala795=) c.3006C>A (p.Ala1002=) c.2673C>A (p.Ala891=) c.2754C>A (p.Ala918=) c.2772C>A (p.Ala924=) n.1153C>A n.3369C>A c.1941C>A (p.Ala647=) c.1716C>A (p.Ala572=) c.2866-2047C>A (n.2866-2047C>A) n.226C>A c.967C>A c.*107C>A (n.*107C>A) n.3750C>A n.2351C>A c.2862C>A (p.Ala954=) n.352C>A c.2910C>A (p.Ala970=) c.2970C>A (p.Ala990=) c.2520C>A (p.Ala840=) c.822C>A (p.Ala274=) c.2871C>A (p.Ala957=) c.2592C>A (p.Ala864=) c.2730+3669C>A (n.2730+3669C>A) c.1674C>A (p.Ala558=) n.3225C>A | |
13 | g.51946339G>A | CA388032031 | ATP7B | c.*838C>T (n.*838C>T) c.*1749C>T (n.*1749C>T) c.2384C>T (p.Ala795Val) c.3005C>T (p.Ala1002Val) c.2672C>T (p.Ala891Val) c.2753C>T (p.Ala918Val) c.2771C>T (p.Ala924Val) n.1152C>T n.3368C>T c.1940C>T (p.Ala647Val) c.1715C>T (p.Ala572Val) c.2866-2048C>T (n.2866-2048C>T) n.225C>T c.966C>T c.*106C>T (n.*106C>T) n.3749C>T n.2350C>T c.2861C>T (p.Ala954Val) n.351C>T c.2909C>T (p.Ala970Val) c.2969C>T (p.Ala990Val) c.2519C>T (p.Ala840Val) c.821C>T (p.Ala274Val) c.2870C>T (p.Ala957Val) c.2591C>T (p.Ala864Val) c.2730+3668C>T (n.2730+3668C>T) c.1673C>T (p.Ala558Val) n.3224C>T | |
13 | g.51946339G>C | CA388032033 | ATP7B | c.*838C>G (n.*838C>G) c.*1749C>G (n.*1749C>G) c.2384C>G (p.Ala795Gly) c.3005C>G (p.Ala1002Gly) c.2672C>G (p.Ala891Gly) c.2753C>G (p.Ala918Gly) c.2771C>G (p.Ala924Gly) n.1152C>G n.3368C>G c.1940C>G (p.Ala647Gly) c.1715C>G (p.Ala572Gly) c.2866-2048C>G (n.2866-2048C>G) n.225C>G c.966C>G c.*106C>G (n.*106C>G) n.3749C>G n.2350C>G c.2861C>G (p.Ala954Gly) n.351C>G c.2909C>G (p.Ala970Gly) c.2969C>G (p.Ala990Gly) c.2519C>G (p.Ala840Gly) c.821C>G (p.Ala274Gly) c.2870C>G (p.Ala957Gly) c.2591C>G (p.Ala864Gly) c.2730+3668C>G (n.2730+3668C>G) c.1673C>G (p.Ala558Gly) n.3224C>G | |
13 | g.51946339G>T | CA388032036 | ATP7B | c.*838C>A (n.*838C>A) c.*1749C>A (n.*1749C>A) c.2384C>A (p.Ala795Asp) c.3005C>A (p.Ala1002Asp) c.2672C>A (p.Ala891Asp) c.2753C>A (p.Ala918Asp) c.2771C>A (p.Ala924Asp) n.1152C>A n.3368C>A c.1940C>A (p.Ala647Asp) c.1715C>A (p.Ala572Asp) c.2866-2048C>A (n.2866-2048C>A) n.225C>A c.966C>A c.*106C>A (n.*106C>A) n.3749C>A n.2350C>A c.2861C>A (p.Ala954Asp) n.351C>A c.2909C>A (p.Ala970Asp) c.2969C>A (p.Ala990Asp) c.2519C>A (p.Ala840Asp) c.821C>A (p.Ala274Asp) c.2870C>A (p.Ala957Asp) c.2591C>A (p.Ala864Asp) c.2730+3668C>A (n.2730+3668C>A) c.1673C>A (p.Ala558Asp) n.3224C>A | |
13 | g.51946339_51946340insGCCG | CA2846911475 | ATP7B | c.*838_*839insGGCC (n.*838_*839insGGCC) c.*1749_*1750insGGCC (n.*1749_*1750insGGCC) c.2384_2385insGGCC (p.Gln797ArgfsTer25) c.3005_3006insGGCC (p.Gln1004ArgfsTer25) c.2672_2673insGGCC (p.Gln893ArgfsTer25) c.2753_2754insGGCC (p.Gln920ArgfsTer25) c.2771_2772insGGCC (p.Gln926ArgfsTer25) n.1152_1153insGGCC n.3368_3369insGGCC c.1940_1941insGGCC (p.Gln649ArgfsTer25) c.1715_1716insGGCC (p.Gln574ArgfsTer25) c.2866-2048_2866-2047insGGCC (n.2866-2048_2866-2047insGGCC) n.225_226insGGCC c.966_967insGGCC c.*106_*107insGGCC (n.*106_*107insGGCC) n.3749_3750insGGCC n.2350_2351insGGCC c.2861_2862insGGCC (p.Gln956ArgfsTer25) n.351_352insGGCC c.2909_2910insGGCC (p.Gln972ArgfsTer25) c.2969_2970insGGCC (p.Gln992ArgfsTer25) c.2519_2520insGGCC (p.Gln842ArgfsTer25) c.821_822insGGCC (p.Gln276ArgfsTer25) c.821_822insGGCC (p.Gln276ArgfsTer?) c.2870_2871insGGCC (p.Gln959ArgfsTer25) c.3005_3006insGGCC (p.Gln1004ArgfsTer?) c.2591_2592insGGCC (p.Gln866ArgfsTer25) c.2730+3668_2730+3669insGGCC (n.2730+3668_2730+3669insGGCC) c.1673_1674insGGCC (p.Gln560ArgfsTer25) n.3224_3225insGGCC | |
13 | g.51946340C>A | CA388032041 | ATP7B | c.*837G>T (n.*837G>T) c.*1748G>T (n.*1748G>T) c.2383G>T (p.Ala795Ser) c.3004G>T (p.Ala1002Ser) c.2671G>T (p.Ala891Ser) c.2752G>T (p.Ala918Ser) c.2770G>T (p.Ala924Ser) n.1151G>T n.3367G>T c.1939G>T (p.Ala647Ser) c.1714G>T (p.Ala572Ser) c.2866-2049G>T (n.2866-2049G>T) n.224G>T c.965G>T c.*105G>T (n.*105G>T) n.3748G>T n.2349G>T c.2860G>T (p.Ala954Ser) n.350G>T c.2908G>T (p.Ala970Ser) c.2968G>T (p.Ala990Ser) c.2518G>T (p.Ala840Ser) c.820G>T (p.Ala274Ser) c.2869G>T (p.Ala957Ser) c.2590G>T (p.Ala864Ser) c.2730+3667G>T (n.2730+3667G>T) c.1672G>T (p.Ala558Ser) n.3223G>T | |
13 | g.51946340C>G | CA388032044 | ATP7B | c.*837G>C (n.*837G>C) c.*1748G>C (n.*1748G>C) c.2383G>C (p.Ala795Pro) c.3004G>C (p.Ala1002Pro) c.2671G>C (p.Ala891Pro) c.2752G>C (p.Ala918Pro) c.2770G>C (p.Ala924Pro) n.1151G>C n.3367G>C c.1939G>C (p.Ala647Pro) c.1714G>C (p.Ala572Pro) c.2866-2049G>C (n.2866-2049G>C) n.224G>C c.965G>C c.*105G>C (n.*105G>C) n.3748G>C n.2349G>C c.2860G>C (p.Ala954Pro) n.350G>C c.2908G>C (p.Ala970Pro) c.2968G>C (p.Ala990Pro) c.2518G>C (p.Ala840Pro) c.820G>C (p.Ala274Pro) c.2869G>C (p.Ala957Pro) c.2590G>C (p.Ala864Pro) c.2730+3667G>C (n.2730+3667G>C) c.1672G>C (p.Ala558Pro) n.3223G>C | |
13 | g.51946340C>T | CA388032046 | ATP7B | c.*837G>A (n.*837G>A) c.*1748G>A (n.*1748G>A) c.2383G>A (p.Ala795Thr) c.3004G>A (p.Ala1002Thr) c.2671G>A (p.Ala891Thr) c.2752G>A (p.Ala918Thr) c.2770G>A (p.Ala924Thr) n.1151G>A n.3367G>A c.1939G>A (p.Ala647Thr) c.1714G>A (p.Ala572Thr) c.2866-2049G>A (n.2866-2049G>A) n.224G>A c.965G>A c.*105G>A (n.*105G>A) n.3748G>A n.2349G>A c.2860G>A (p.Ala954Thr) n.350G>A c.2908G>A (p.Ala970Thr) c.2968G>A (p.Ala990Thr) c.2518G>A (p.Ala840Thr) c.820G>A (p.Ala274Thr) c.2869G>A (p.Ala957Thr) c.2590G>A (p.Ala864Thr) c.2730+3667G>A (n.2730+3667G>A) c.1672G>A (p.Ala558Thr) n.3223G>A | |
13 | g.51946341C>A | CA483894896 | ATP7B | c.*836G>T (n.*836G>T) c.*1747G>T (n.*1747G>T) c.2382G>T (p.Val794=) c.3003G>T (p.Val1001=) c.2670G>T (p.Val890=) c.2751G>T (p.Val917=) c.2769G>T (p.Val923=) n.1150G>T n.3366G>T c.1938G>T (p.Val646=) c.1713G>T (p.Val571=) c.2866-2050G>T (n.2866-2050G>T) n.223G>T c.964G>T c.*104G>T (n.*104G>T) n.3747G>T n.2348G>T c.2859G>T (p.Val953=) n.349G>T c.2907G>T (p.Val969=) c.2967G>T (p.Val989=) c.2517G>T (p.Val839=) c.819G>T (p.Val273=) c.2868G>T (p.Val956=) c.2589G>T (p.Val863=) c.2730+3666G>T (n.2730+3666G>T) c.1671G>T (p.Val557=) n.3222G>T | |
13 | g.51946341C>G | CA483894897 | ATP7B | c.*836G>C (n.*836G>C) c.*1747G>C (n.*1747G>C) c.2382G>C (p.Val794=) c.3003G>C (p.Val1001=) c.2670G>C (p.Val890=) c.2751G>C (p.Val917=) c.2769G>C (p.Val923=) n.1150G>C n.3366G>C c.1938G>C (p.Val646=) c.1713G>C (p.Val571=) c.2866-2050G>C (n.2866-2050G>C) n.223G>C c.964G>C c.*104G>C (n.*104G>C) n.3747G>C n.2348G>C c.2859G>C (p.Val953=) n.349G>C c.2907G>C (p.Val969=) c.2967G>C (p.Val989=) c.2517G>C (p.Val839=) c.819G>C (p.Val273=) c.2868G>C (p.Val956=) c.2589G>C (p.Val863=) c.2730+3666G>C (n.2730+3666G>C) c.1671G>C (p.Val557=) n.3222G>C | |
13 | g.51946341C>T | CA483894898 | ATP7B | c.*836G>A (n.*836G>A) c.*1747G>A (n.*1747G>A) c.2382G>A (p.Val794=) c.3003G>A (p.Val1001=) c.2670G>A (p.Val890=) c.2751G>A (p.Val917=) c.2769G>A (p.Val923=) n.1150G>A n.3366G>A c.1938G>A (p.Val646=) c.1713G>A (p.Val571=) c.2866-2050G>A (n.2866-2050G>A) n.223G>A c.964G>A c.*104G>A (n.*104G>A) n.3747G>A n.2348G>A c.2859G>A (p.Val953=) n.349G>A c.2907G>A (p.Val969=) c.2967G>A (p.Val989=) c.2517G>A (p.Val839=) c.819G>A (p.Val273=) c.2868G>A (p.Val956=) c.2589G>A (p.Val863=) c.2730+3666G>A (n.2730+3666G>A) c.1671G>A (p.Val557=) n.3222G>A | |
13 | g.51946342A= | CA2091566150 | ATP7B | c.*835T= (n.*835T=) c.*1746T= (n.*1746T=) c.2381T= (p.Val794=) c.3002T= (p.Val1001=) c.2669T= (p.Val890=) c.2750T= (p.Val917=) c.2768T= (p.Val923=) n.1149T= n.3365T= c.1937T= (p.Val646=) c.1712T= (p.Val571=) c.2866-2051T= (n.2866-2051T=) n.222T= c.963T= c.*103T= (n.*103T=) n.3746T= n.2347T= c.2858T= (p.Val953=) n.348T= c.2906T= (p.Val969=) c.2966T= (p.Val989=) c.2516T= (p.Val839=) c.818T= (p.Val273=) c.2867T= (p.Val956=) c.2588T= (p.Val863=) c.2730+3665T= (n.2730+3665T=) c.1670T= (p.Val557=) n.3221T= | |
13 | g.51946342A>C | CA388032049 | ATP7B | c.*835T>G (n.*835T>G) c.*1746T>G (n.*1746T>G) c.2381T>G (p.Val794Gly) c.3002T>G (p.Val1001Gly) c.2669T>G (p.Val890Gly) c.2750T>G (p.Val917Gly) c.2768T>G (p.Val923Gly) n.1149T>G n.3365T>G c.1937T>G (p.Val646Gly) c.1712T>G (p.Val571Gly) c.2866-2051T>G (n.2866-2051T>G) n.222T>G c.963T>G c.*103T>G (n.*103T>G) n.3746T>G n.2347T>G c.2858T>G (p.Val953Gly) n.348T>G c.2906T>G (p.Val969Gly) c.2966T>G (p.Val989Gly) c.2516T>G (p.Val839Gly) c.818T>G (p.Val273Gly) c.2867T>G (p.Val956Gly) c.2588T>G (p.Val863Gly) c.2730+3665T>G (n.2730+3665T>G) c.1670T>G (p.Val557Gly) n.3221T>G | ClinVar dbSNP |
13 | g.51946342A>G | CA388032052 | ATP7B | c.*835T>C (n.*835T>C) c.*1746T>C (n.*1746T>C) c.2381T>C (p.Val794Ala) c.3002T>C (p.Val1001Ala) c.2669T>C (p.Val890Ala) c.2750T>C (p.Val917Ala) c.2768T>C (p.Val923Ala) n.1149T>C n.3365T>C c.1937T>C (p.Val646Ala) c.1712T>C (p.Val571Ala) c.2866-2051T>C (n.2866-2051T>C) n.222T>C c.963T>C c.*103T>C (n.*103T>C) n.3746T>C n.2347T>C c.2858T>C (p.Val953Ala) n.348T>C c.2906T>C (p.Val969Ala) c.2966T>C (p.Val989Ala) c.2516T>C (p.Val839Ala) c.818T>C (p.Val273Ala) c.2867T>C (p.Val956Ala) c.2588T>C (p.Val863Ala) c.2730+3665T>C (n.2730+3665T>C) c.1670T>C (p.Val557Ala) n.3221T>C | |
13 | g.51946342A>T | CA388032061 | ATP7B | c.*835T>A (n.*835T>A) c.*1746T>A (n.*1746T>A) c.2381T>A (p.Val794Glu) c.3002T>A (p.Val1001Glu) c.2669T>A (p.Val890Glu) c.2750T>A (p.Val917Glu) c.2768T>A (p.Val923Glu) n.1149T>A n.3365T>A c.1937T>A (p.Val646Glu) c.1712T>A (p.Val571Glu) c.2866-2051T>A (n.2866-2051T>A) n.222T>A c.963T>A c.*103T>A (n.*103T>A) n.3746T>A n.2347T>A c.2858T>A (p.Val953Glu) n.348T>A c.2906T>A (p.Val969Glu) c.2966T>A (p.Val989Glu) c.2516T>A (p.Val839Glu) c.818T>A (p.Val273Glu) c.2867T>A (p.Val956Glu) c.2588T>A (p.Val863Glu) c.2730+3665T>A (n.2730+3665T>A) c.1670T>A (p.Val557Glu) n.3221T>A | |
13 | g.51946343C>A | CA388032064 | ATP7B | c.*834G>T (n.*834G>T) c.*1745G>T (n.*1745G>T) c.2380G>T (p.Val794Leu) c.3001G>T (p.Val1001Leu) c.2668G>T (p.Val890Leu) c.2749G>T (p.Val917Leu) c.2767G>T (p.Val923Leu) n.1148G>T n.3364G>T c.1936G>T (p.Val646Leu) c.1711G>T (p.Val571Leu) c.2866-2052G>T (n.2866-2052G>T) n.221G>T c.962G>T c.*102G>T (n.*102G>T) n.3745G>T n.2346G>T c.2857G>T (p.Val953Leu) n.347G>T c.2905G>T (p.Val969Leu) c.2965G>T (p.Val989Leu) c.2515G>T (p.Val839Leu) c.817G>T (p.Val273Leu) c.2866G>T (p.Val956Leu) c.2587G>T (p.Val863Leu) c.2730+3664G>T (n.2730+3664G>T) c.1669G>T (p.Val557Leu) n.3220G>T | gnomAD v4 |
13 | g.51946343C>G | CA388032068 | ATP7B | c.*834G>C (n.*834G>C) c.*1745G>C (n.*1745G>C) c.2380G>C (p.Val794Leu) c.3001G>C (p.Val1001Leu) c.2668G>C (p.Val890Leu) c.2749G>C (p.Val917Leu) c.2767G>C (p.Val923Leu) n.1148G>C n.3364G>C c.1936G>C (p.Val646Leu) c.1711G>C (p.Val571Leu) c.2866-2052G>C (n.2866-2052G>C) n.221G>C c.962G>C c.*102G>C (n.*102G>C) n.3745G>C n.2346G>C c.2857G>C (p.Val953Leu) n.347G>C c.2905G>C (p.Val969Leu) c.2965G>C (p.Val989Leu) c.2515G>C (p.Val839Leu) c.817G>C (p.Val273Leu) c.2866G>C (p.Val956Leu) c.2587G>C (p.Val863Leu) c.2730+3664G>C (n.2730+3664G>C) c.1669G>C (p.Val557Leu) n.3220G>C | gnomAD v4 |
13 | g.51946343C>T | CA388032066 | ATP7B | c.*834G>A (n.*834G>A) c.*1745G>A (n.*1745G>A) c.2380G>A (p.Val794Met) c.3001G>A (p.Val1001Met) c.2668G>A (p.Val890Met) c.2749G>A (p.Val917Met) c.2767G>A (p.Val923Met) n.1148G>A n.3364G>A c.1936G>A (p.Val646Met) c.1711G>A (p.Val571Met) c.2866-2052G>A (n.2866-2052G>A) n.221G>A c.962G>A c.*102G>A (n.*102G>A) n.3745G>A n.2346G>A c.2857G>A (p.Val953Met) n.347G>A c.2905G>A (p.Val969Met) c.2965G>A (p.Val989Met) c.2515G>A (p.Val839Met) c.817G>A (p.Val273Met) c.2866G>A (p.Val956Met) c.2587G>A (p.Val863Met) c.2730+3664G>A (n.2730+3664G>A) c.1669G>A (p.Val557Met) n.3220G>A | gnomAD v4 |
13 | g.51946344C>A | CA483894900 | ATP7B | c.*833G>T (n.*833G>T) c.*1744G>T (n.*1744G>T) c.2379G>T (p.Gly793=) c.3000G>T (p.Gly1000=) c.2667G>T (p.Gly889=) c.2748G>T (p.Gly916=) c.2766G>T (p.Gly922=) n.1147G>T n.3363G>T c.1935G>T (p.Gly645=) c.1710G>T (p.Gly570=) c.2866-2053G>T (n.2866-2053G>T) n.220G>T c.961G>T c.*101G>T (n.*101G>T) n.3744G>T n.2345G>T c.2856G>T (p.Gly952=) n.346G>T c.2904G>T (p.Gly968=) c.2964G>T (p.Gly988=) c.2514G>T (p.Gly838=) c.816G>T (p.Gly272=) c.2865G>T (p.Gly955=) c.2586G>T (p.Gly862=) c.2730+3663G>T (n.2730+3663G>T) c.1668G>T (p.Gly556=) n.3219G>T | |
13 | g.51946344C= | CA2091566151 | ATP7B | c.*833G= (n.*833G=) c.*1744G= (n.*1744G=) c.2379G= (p.Gly793=) c.3000G= (p.Gly1000=) c.2667G= (p.Gly889=) c.2748G= (p.Gly916=) c.2766G= (p.Gly922=) n.1147G= n.3363G= c.1935G= (p.Gly645=) c.1710G= (p.Gly570=) c.2866-2053G= (n.2866-2053G=) n.220G= c.961G= c.*101G= (n.*101G=) n.3744G= n.2345G= c.2856G= (p.Gly952=) n.346G= c.2904G= (p.Gly968=) c.2964G= (p.Gly988=) c.2514G= (p.Gly838=) c.816G= (p.Gly272=) c.2865G= (p.Gly955=) c.2586G= (p.Gly862=) c.2730+3663G= (n.2730+3663G=) c.1668G= (p.Gly556=) n.3219G= | |
13 | g.51946344C>G | CA483894901 | ATP7B | c.*833G>C (n.*833G>C) c.*1744G>C (n.*1744G>C) c.2379G>C (p.Gly793=) c.3000G>C (p.Gly1000=) c.2667G>C (p.Gly889=) c.2748G>C (p.Gly916=) c.2766G>C (p.Gly922=) n.1147G>C n.3363G>C c.1935G>C (p.Gly645=) c.1710G>C (p.Gly570=) c.2866-2053G>C (n.2866-2053G>C) n.220G>C c.961G>C c.*101G>C (n.*101G>C) n.3744G>C n.2345G>C c.2856G>C (p.Gly952=) n.346G>C c.2904G>C (p.Gly968=) c.2964G>C (p.Gly988=) c.2514G>C (p.Gly838=) c.816G>C (p.Gly272=) c.2865G>C (p.Gly955=) c.2586G>C (p.Gly862=) c.2730+3663G>C (n.2730+3663G>C) c.1668G>C (p.Gly556=) n.3219G>C | gnomAD v4 |
13 | g.51946344C>T | CA483894902 | ATP7B | c.*833G>A (n.*833G>A) c.*1744G>A (n.*1744G>A) c.2379G>A (p.Gly793=) c.3000G>A (p.Gly1000=) c.2667G>A (p.Gly889=) c.2748G>A (p.Gly916=) c.2766G>A (p.Gly922=) n.1147G>A n.3363G>A c.1935G>A (p.Gly645=) c.1710G>A (p.Gly570=) c.2866-2053G>A (n.2866-2053G>A) n.220G>A c.961G>A c.*101G>A (n.*101G>A) n.3744G>A n.2345G>A c.2856G>A (p.Gly952=) n.346G>A c.2904G>A (p.Gly968=) c.2964G>A (p.Gly988=) c.2514G>A (p.Gly838=) c.816G>A (p.Gly272=) c.2865G>A (p.Gly955=) c.2586G>A (p.Gly862=) c.2730+3663G>A (n.2730+3663G>A) c.1668G>A (p.Gly556=) n.3219G>A | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51946345C>A | CA388032072 | ATP7B | c.*832G>T (n.*832G>T) c.*1743G>T (n.*1743G>T) c.2378G>T (p.Gly793Val) c.2999G>T (p.Gly1000Val) c.2666G>T (p.Gly889Val) c.2747G>T (p.Gly916Val) c.2765G>T (p.Gly922Val) n.1146G>T n.3362G>T c.1934G>T (p.Gly645Val) c.1709G>T (p.Gly570Val) c.2866-2054G>T (n.2866-2054G>T) n.219G>T c.960G>T c.*100G>T (n.*100G>T) n.3743G>T n.2344G>T c.2855G>T (p.Gly952Val) n.345G>T c.2903G>T (p.Gly968Val) c.2963G>T (p.Gly988Val) c.2513G>T (p.Gly838Val) c.815G>T (p.Gly272Val) c.2864G>T (p.Gly955Val) c.2585G>T (p.Gly862Val) c.2730+3662G>T (n.2730+3662G>T) c.1667G>T (p.Gly556Val) n.3218G>T | ClinVar dbSNP gnomAD v4 |
13 | g.51946345C= | CA2091566152 | ATP7B | c.*832G= (n.*832G=) c.*1743G= (n.*1743G=) c.2378G= (p.Gly793=) c.2999G= (p.Gly1000=) c.2666G= (p.Gly889=) c.2747G= (p.Gly916=) c.2765G= (p.Gly922=) n.1146G= n.3362G= c.1934G= (p.Gly645=) c.1709G= (p.Gly570=) c.2866-2054G= (n.2866-2054G=) n.219G= c.960G= c.*100G= (n.*100G=) n.3743G= n.2344G= c.2855G= (p.Gly952=) n.345G= c.2903G= (p.Gly968=) c.2963G= (p.Gly988=) c.2513G= (p.Gly838=) c.815G= (p.Gly272=) c.2864G= (p.Gly955=) c.2585G= (p.Gly862=) c.2730+3662G= (n.2730+3662G=) c.1667G= (p.Gly556=) n.3218G= | |
13 | g.51946345C>G | CA388032074 | ATP7B | c.*832G>C (n.*832G>C) c.*1743G>C (n.*1743G>C) c.2378G>C (p.Gly793Ala) c.2999G>C (p.Gly1000Ala) c.2666G>C (p.Gly889Ala) c.2747G>C (p.Gly916Ala) c.2765G>C (p.Gly922Ala) n.1146G>C n.3362G>C c.1934G>C (p.Gly645Ala) c.1709G>C (p.Gly570Ala) c.2866-2054G>C (n.2866-2054G>C) n.219G>C c.960G>C c.*100G>C (n.*100G>C) n.3743G>C n.2344G>C c.2855G>C (p.Gly952Ala) n.345G>C c.2903G>C (p.Gly968Ala) c.2963G>C (p.Gly988Ala) c.2513G>C (p.Gly838Ala) c.815G>C (p.Gly272Ala) c.2864G>C (p.Gly955Ala) c.2585G>C (p.Gly862Ala) c.2730+3662G>C (n.2730+3662G>C) c.1667G>C (p.Gly556Ala) n.3218G>C | |
13 | g.51946345C>T | CA388032076 | ATP7B | c.*832G>A (n.*832G>A) c.*1743G>A (n.*1743G>A) c.2378G>A (p.Gly793Glu) c.2999G>A (p.Gly1000Glu) c.2666G>A (p.Gly889Glu) c.2747G>A (p.Gly916Glu) c.2765G>A (p.Gly922Glu) n.1146G>A n.3362G>A c.1934G>A (p.Gly645Glu) c.1709G>A (p.Gly570Glu) c.2866-2054G>A (n.2866-2054G>A) n.219G>A c.960G>A c.*100G>A (n.*100G>A) n.3743G>A n.2344G>A c.2855G>A (p.Gly952Glu) n.345G>A c.2903G>A (p.Gly968Glu) c.2963G>A (p.Gly988Glu) c.2513G>A (p.Gly838Glu) c.815G>A (p.Gly272Glu) c.2864G>A (p.Gly955Glu) c.2585G>A (p.Gly862Glu) c.2730+3662G>A (n.2730+3662G>A) c.1667G>A (p.Gly556Glu) n.3218G>A | gnomAD v4 |
13 | g.51946346C>A | CA388032079 | ATP7B | c.*831G>T (n.*831G>T) c.*1742G>T (n.*1742G>T) c.2377G>T (p.Gly793Trp) c.2998G>T (p.Gly1000Trp) c.2665G>T (p.Gly889Trp) c.2746G>T (p.Gly916Trp) c.2764G>T (p.Gly922Trp) n.1145G>T n.3361G>T c.1933G>T (p.Gly645Trp) c.1708G>T (p.Gly570Trp) c.2866-2055G>T (n.2866-2055G>T) n.218G>T c.959G>T c.*99G>T (n.*99G>T) n.3742G>T n.2343G>T c.2854G>T (p.Gly952Trp) n.344G>T c.2902G>T (p.Gly968Trp) c.2962G>T (p.Gly988Trp) c.2512G>T (p.Gly838Trp) c.814G>T (p.Gly272Trp) c.2863G>T (p.Gly955Trp) c.2584G>T (p.Gly862Trp) c.2730+3661G>T (n.2730+3661G>T) c.1666G>T (p.Gly556Trp) n.3217G>T | |
13 | g.51946346C= | CA2091566153 | ATP7B | c.*831G= (n.*831G=) c.*1742G= (n.*1742G=) c.2377G= (p.Gly793=) c.2998G= (p.Gly1000=) c.2665G= (p.Gly889=) c.2746G= (p.Gly916=) c.2764G= (p.Gly922=) n.1145G= n.3361G= c.1933G= (p.Gly645=) c.1708G= (p.Gly570=) c.2866-2055G= (n.2866-2055G=) n.218G= c.959G= c.*99G= (n.*99G=) n.3742G= n.2343G= c.2854G= (p.Gly952=) n.344G= c.2902G= (p.Gly968=) c.2962G= (p.Gly988=) c.2512G= (p.Gly838=) c.814G= (p.Gly272=) c.2863G= (p.Gly955=) c.2584G= (p.Gly862=) c.2730+3661G= (n.2730+3661G=) c.1666G= (p.Gly556=) n.3217G= | |
13 | g.51946346C>G | CA6988840 | ATP7B | c.*831G>C (n.*831G>C) c.*1742G>C (n.*1742G>C) c.2377G>C (p.Gly793Arg) c.2998G>C (p.Gly1000Arg) c.2665G>C (p.Gly889Arg) c.2746G>C (p.Gly916Arg) c.2764G>C (p.Gly922Arg) n.1145G>C n.3361G>C c.1933G>C (p.Gly645Arg) c.1708G>C (p.Gly570Arg) c.2866-2055G>C (n.2866-2055G>C) n.218G>C c.959G>C c.*99G>C (n.*99G>C) n.3742G>C n.2343G>C c.2854G>C (p.Gly952Arg) n.344G>C c.2902G>C (p.Gly968Arg) c.2962G>C (p.Gly988Arg) c.2512G>C (p.Gly838Arg) c.814G>C (p.Gly272Arg) c.2863G>C (p.Gly955Arg) c.2584G>C (p.Gly862Arg) c.2730+3661G>C (n.2730+3661G>C) c.1666G>C (p.Gly556Arg) n.3217G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51946346C>T | CA6988839 | ATP7B | c.*831G>A (n.*831G>A) c.*1742G>A (n.*1742G>A) c.2377G>A (p.Gly793Arg) c.2998G>A (p.Gly1000Arg) c.2665G>A (p.Gly889Arg) c.2746G>A (p.Gly916Arg) c.2764G>A (p.Gly922Arg) n.1145G>A n.3361G>A c.1933G>A (p.Gly645Arg) c.1708G>A (p.Gly570Arg) c.2866-2055G>A (n.2866-2055G>A) n.218G>A c.959G>A c.*99G>A (n.*99G>A) n.3742G>A n.2343G>A c.2854G>A (p.Gly952Arg) n.344G>A c.2902G>A (p.Gly968Arg) c.2962G>A (p.Gly988Arg) c.2512G>A (p.Gly838Arg) c.814G>A (p.Gly272Arg) c.2863G>A (p.Gly955Arg) c.2584G>A (p.Gly862Arg) c.2730+3661G>A (n.2730+3661G>A) c.1666G>A (p.Gly556Arg) n.3217G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946347G>A | CA6988842 | ATP7B | c.*830C>T (n.*830C>T) c.*1741C>T (n.*1741C>T) c.2376C>T (p.Thr792=) c.2997C>T (p.Thr999=) c.2664C>T (p.Thr888=) c.2745C>T (p.Thr915=) c.2763C>T (p.Thr921=) n.1144C>T n.3360C>T c.1932C>T (p.Thr644=) c.1707C>T (p.Thr569=) c.2866-2056C>T (n.2866-2056C>T) n.217C>T c.958C>T c.*98C>T (n.*98C>T) n.3741C>T n.2342C>T c.2853C>T (p.Thr951=) n.343C>T c.2901C>T (p.Thr967=) c.2961C>T (p.Thr987=) c.2511C>T (p.Thr837=) c.813C>T (p.Thr271=) c.2862C>T (p.Thr954=) c.2583C>T (p.Thr861=) c.2730+3660C>T (n.2730+3660C>T) c.1665C>T (p.Thr555=) n.3216C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946347G>C | CA6988841 | ATP7B | c.*830C>G (n.*830C>G) c.*1741C>G (n.*1741C>G) c.2376C>G (p.Thr792=) c.2997C>G (p.Thr999=) c.2664C>G (p.Thr888=) c.2745C>G (p.Thr915=) c.2763C>G (p.Thr921=) n.1144C>G n.3360C>G c.1932C>G (p.Thr644=) c.1707C>G (p.Thr569=) c.2866-2056C>G (n.2866-2056C>G) n.217C>G c.958C>G c.*98C>G (n.*98C>G) n.3741C>G n.2342C>G c.2853C>G (p.Thr951=) n.343C>G c.2901C>G (p.Thr967=) c.2961C>G (p.Thr987=) c.2511C>G (p.Thr837=) c.813C>G (p.Thr271=) c.2862C>G (p.Thr954=) c.2583C>G (p.Thr861=) c.2730+3660C>G (n.2730+3660C>G) c.1665C>G (p.Thr555=) n.3216C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946347G= | CA2091566154 | ATP7B | c.*830C= (n.*830C=) c.*1741C= (n.*1741C=) c.2376C= (p.Thr792=) c.2997C= (p.Thr999=) c.2664C= (p.Thr888=) c.2745C= (p.Thr915=) c.2763C= (p.Thr921=) n.1144C= n.3360C= c.1932C= (p.Thr644=) c.1707C= (p.Thr569=) c.2866-2056C= (n.2866-2056C=) n.217C= c.958C= c.*98C= (n.*98C=) n.3741C= n.2342C= c.2853C= (p.Thr951=) n.343C= c.2901C= (p.Thr967=) c.2961C= (p.Thr987=) c.2511C= (p.Thr837=) c.813C= (p.Thr271=) c.2862C= (p.Thr954=) c.2583C= (p.Thr861=) c.2730+3660C= (n.2730+3660C=) c.1665C= (p.Thr555=) n.3216C= | |
13 | g.51946347G>T | CA483894904 | ATP7B | c.*830C>A (n.*830C>A) c.*1741C>A (n.*1741C>A) c.2376C>A (p.Thr792=) c.2997C>A (p.Thr999=) c.2664C>A (p.Thr888=) c.2745C>A (p.Thr915=) c.2763C>A (p.Thr921=) n.1144C>A n.3360C>A c.1932C>A (p.Thr644=) c.1707C>A (p.Thr569=) c.2866-2056C>A (n.2866-2056C>A) n.217C>A c.958C>A c.*98C>A (n.*98C>A) n.3741C>A n.2342C>A c.2853C>A (p.Thr951=) n.343C>A c.2901C>A (p.Thr967=) c.2961C>A (p.Thr987=) c.2511C>A (p.Thr837=) c.813C>A (p.Thr271=) c.2862C>A (p.Thr954=) c.2583C>A (p.Thr861=) c.2730+3660C>A (n.2730+3660C>A) c.1665C>A (p.Thr555=) n.3216C>A | |
13 | g.51946348dup | CA1139663304 | ATP7B | c.*830dup (n.*830dup) c.*1741dup (n.*1741dup) c.2376dup (p.Gly793ArgfsTer28) c.2997dup (p.Gly1000ArgfsTer28) c.2664dup (p.Gly889ArgfsTer28) c.2745dup (p.Gly916ArgfsTer28) c.2763dup (p.Gly922ArgfsTer28) n.1144dup n.3360dup c.1932dup (p.Gly645ArgfsTer28) c.1707dup (p.Gly570ArgfsTer28) c.2866-2056dup (n.2866-2056dup) n.217dup c.958dup c.*98dup (n.*98dup) n.3741dup n.2342dup c.2853dup (p.Gly952ArgfsTer28) n.343dup c.2901dup (p.Gly968ArgfsTer28) c.2961dup (p.Gly988ArgfsTer28) c.2511dup (p.Gly838ArgfsTer28) c.813dup (p.Gly272ArgfsTer28) c.813dup (p.Gly272ArgfsTer?) c.2862dup (p.Gly955ArgfsTer28) c.2997dup (p.Gly1000ArgfsTer?) c.2583dup (p.Gly862ArgfsTer28) c.2730+3660dup (n.2730+3660dup) c.1665dup (p.Gly556ArgfsTer28) n.3216dup | ClinVar dbSNP gnomAD v4 |
13 | g.51946348G>A | CA388032088 | ATP7B | c.*829C>T (n.*829C>T) c.*1740C>T (n.*1740C>T) c.2375C>T (p.Thr792Ile) c.2996C>T (p.Thr999Ile) c.2663C>T (p.Thr888Ile) c.2744C>T (p.Thr915Ile) c.2762C>T (p.Thr921Ile) n.1143C>T n.3359C>T c.1931C>T (p.Thr644Ile) c.1706C>T (p.Thr569Ile) c.2866-2057C>T (n.2866-2057C>T) n.216C>T c.957C>T c.*97C>T (n.*97C>T) n.3740C>T n.2341C>T c.2852C>T (p.Thr951Ile) n.342C>T c.2900C>T (p.Thr967Ile) c.2960C>T (p.Thr987Ile) c.2510C>T (p.Thr837Ile) c.812C>T (p.Thr271Ile) c.2861C>T (p.Thr954Ile) c.2582C>T (p.Thr861Ile) c.2730+3659C>T (n.2730+3659C>T) c.1664C>T (p.Thr555Ile) n.3215C>T | |
13 | g.51946348G>C | CA388032091 | ATP7B | c.*829C>G (n.*829C>G) c.*1740C>G (n.*1740C>G) c.2375C>G (p.Thr792Ser) c.2996C>G (p.Thr999Ser) c.2663C>G (p.Thr888Ser) c.2744C>G (p.Thr915Ser) c.2762C>G (p.Thr921Ser) n.1143C>G n.3359C>G c.1931C>G (p.Thr644Ser) c.1706C>G (p.Thr569Ser) c.2866-2057C>G (n.2866-2057C>G) n.216C>G c.957C>G c.*97C>G (n.*97C>G) n.3740C>G n.2341C>G c.2852C>G (p.Thr951Ser) n.342C>G c.2900C>G (p.Thr967Ser) c.2960C>G (p.Thr987Ser) c.2510C>G (p.Thr837Ser) c.812C>G (p.Thr271Ser) c.2861C>G (p.Thr954Ser) c.2582C>G (p.Thr861Ser) c.2730+3659C>G (n.2730+3659C>G) c.1664C>G (p.Thr555Ser) n.3215C>G | |
13 | g.51946348G>T | CA388032093 | ATP7B | c.*829C>A (n.*829C>A) c.*1740C>A (n.*1740C>A) c.2375C>A (p.Thr792Asn) c.2996C>A (p.Thr999Asn) c.2663C>A (p.Thr888Asn) c.2744C>A (p.Thr915Asn) c.2762C>A (p.Thr921Asn) n.1143C>A n.3359C>A c.1931C>A (p.Thr644Asn) c.1706C>A (p.Thr569Asn) c.2866-2057C>A (n.2866-2057C>A) n.216C>A c.957C>A c.*97C>A (n.*97C>A) n.3740C>A n.2341C>A c.2852C>A (p.Thr951Asn) n.342C>A c.2900C>A (p.Thr967Asn) c.2960C>A (p.Thr987Asn) c.2510C>A (p.Thr837Asn) c.812C>A (p.Thr271Asn) c.2861C>A (p.Thr954Asn) c.2582C>A (p.Thr861Asn) c.2730+3659C>A (n.2730+3659C>A) c.1664C>A (p.Thr555Asn) n.3215C>A | |
13 | g.51946349T>A | CA388032096 | ATP7B | c.*828A>T (n.*828A>T) c.*1739A>T (n.*1739A>T) c.2374A>T (p.Thr792Ser) c.2995A>T (p.Thr999Ser) c.2662A>T (p.Thr888Ser) c.2743A>T (p.Thr915Ser) c.2761A>T (p.Thr921Ser) n.1142A>T n.3358A>T c.1930A>T (p.Thr644Ser) c.1705A>T (p.Thr569Ser) c.2866-2058A>T (n.2866-2058A>T) n.215A>T c.956A>T c.*96A>T (n.*96A>T) n.3739A>T n.2340A>T c.2851A>T (p.Thr951Ser) n.341A>T c.2899A>T (p.Thr967Ser) c.2959A>T (p.Thr987Ser) c.2509A>T (p.Thr837Ser) c.811A>T (p.Thr271Ser) c.2860A>T (p.Thr954Ser) c.2581A>T (p.Thr861Ser) c.2730+3658A>T (n.2730+3658A>T) c.1663A>T (p.Thr555Ser) n.3214A>T | ClinVar gnomAD v4 |
13 | g.51946349T>C | CA388032098 | ATP7B | c.*828A>G (n.*828A>G) c.*1739A>G (n.*1739A>G) c.2374A>G (p.Thr792Ala) c.2995A>G (p.Thr999Ala) c.2662A>G (p.Thr888Ala) c.2743A>G (p.Thr915Ala) c.2761A>G (p.Thr921Ala) n.1142A>G n.3358A>G c.1930A>G (p.Thr644Ala) c.1705A>G (p.Thr569Ala) c.2866-2058A>G (n.2866-2058A>G) n.215A>G c.956A>G c.*96A>G (n.*96A>G) n.3739A>G n.2340A>G c.2851A>G (p.Thr951Ala) n.341A>G c.2899A>G (p.Thr967Ala) c.2959A>G (p.Thr987Ala) c.2509A>G (p.Thr837Ala) c.811A>G (p.Thr271Ala) c.2860A>G (p.Thr954Ala) c.2581A>G (p.Thr861Ala) c.2730+3658A>G (n.2730+3658A>G) c.1663A>G (p.Thr555Ala) n.3214A>G | |
13 | g.51946349T>G | CA388032099 | ATP7B | c.*828A>C (n.*828A>C) c.*1739A>C (n.*1739A>C) c.2374A>C (p.Thr792Pro) c.2995A>C (p.Thr999Pro) c.2662A>C (p.Thr888Pro) c.2743A>C (p.Thr915Pro) c.2761A>C (p.Thr921Pro) n.1142A>C n.3358A>C c.1930A>C (p.Thr644Pro) c.1705A>C (p.Thr569Pro) c.2866-2058A>C (n.2866-2058A>C) n.215A>C c.956A>C c.*96A>C (n.*96A>C) n.3739A>C n.2340A>C c.2851A>C (p.Thr951Pro) n.341A>C c.2899A>C (p.Thr967Pro) c.2959A>C (p.Thr987Pro) c.2509A>C (p.Thr837Pro) c.811A>C (p.Thr271Pro) c.2860A>C (p.Thr954Pro) c.2581A>C (p.Thr861Pro) c.2730+3658A>C (n.2730+3658A>C) c.1663A>C (p.Thr555Pro) n.3214A>C | dbSNP |
13 | g.51946349T= | CA2091566155 | ATP7B | c.*828A= (n.*828A=) c.*1739A= (n.*1739A=) c.2374A= (p.Thr792=) c.2995A= (p.Thr999=) c.2662A= (p.Thr888=) c.2743A= (p.Thr915=) c.2761A= (p.Thr921=) n.1142A= n.3358A= c.1930A= (p.Thr644=) c.1705A= (p.Thr569=) c.2866-2058A= (n.2866-2058A=) n.215A= c.956A= c.*96A= (n.*96A=) n.3739A= n.2340A= c.2851A= (p.Thr951=) n.341A= c.2899A= (p.Thr967=) c.2959A= (p.Thr987=) c.2509A= (p.Thr837=) c.811A= (p.Thr271=) c.2860A= (p.Thr954=) c.2581A= (p.Thr861=) c.2730+3658A= (n.2730+3658A=) c.1663A= (p.Thr555=) n.3214A= | |
13 | g.51946350G>A | CA6988843 | ATP7B | c.*827C>T (n.*827C>T) c.*1738C>T (n.*1738C>T) c.2373C>T (p.Gly791=) c.2994C>T (p.Gly998=) c.2661C>T (p.Gly887=) c.2742C>T (p.Gly914=) c.2760C>T (p.Gly920=) n.1141C>T n.3357C>T c.1929C>T (p.Gly643=) c.1704C>T (p.Gly568=) c.2866-2059C>T (n.2866-2059C>T) n.214C>T c.955C>T c.*95C>T (n.*95C>T) n.3738C>T n.2339C>T c.2850C>T (p.Gly950=) n.340C>T c.2898C>T (p.Gly966=) c.2958C>T (p.Gly986=) c.2508C>T (p.Gly836=) c.810C>T (p.Gly270=) c.2859C>T (p.Gly953=) c.2580C>T (p.Gly860=) c.2730+3657C>T (n.2730+3657C>T) c.1662C>T (p.Gly554=) n.3213C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946350G>C | CA483894906 | ATP7B | c.*827C>G (n.*827C>G) c.*1738C>G (n.*1738C>G) c.2373C>G (p.Gly791=) c.2994C>G (p.Gly998=) c.2661C>G (p.Gly887=) c.2742C>G (p.Gly914=) c.2760C>G (p.Gly920=) n.1141C>G n.3357C>G c.1929C>G (p.Gly643=) c.1704C>G (p.Gly568=) c.2866-2059C>G (n.2866-2059C>G) n.214C>G c.955C>G c.*95C>G (n.*95C>G) n.3738C>G n.2339C>G c.2850C>G (p.Gly950=) n.340C>G c.2898C>G (p.Gly966=) c.2958C>G (p.Gly986=) c.2508C>G (p.Gly836=) c.810C>G (p.Gly270=) c.2859C>G (p.Gly953=) c.2580C>G (p.Gly860=) c.2730+3657C>G (n.2730+3657C>G) c.1662C>G (p.Gly554=) n.3213C>G | |
13 | g.51946350G= | CA2091566156 | ATP7B | c.*827C= (n.*827C=) c.*1738C= (n.*1738C=) c.2373C= (p.Gly791=) c.2994C= (p.Gly998=) c.2661C= (p.Gly887=) c.2742C= (p.Gly914=) c.2760C= (p.Gly920=) n.1141C= n.3357C= c.1929C= (p.Gly643=) c.1704C= (p.Gly568=) c.2866-2059C= (n.2866-2059C=) n.214C= c.955C= c.*95C= (n.*95C=) n.3738C= n.2339C= c.2850C= (p.Gly950=) n.340C= c.2898C= (p.Gly966=) c.2958C= (p.Gly986=) c.2508C= (p.Gly836=) c.810C= (p.Gly270=) c.2859C= (p.Gly953=) c.2580C= (p.Gly860=) c.2730+3657C= (n.2730+3657C=) c.1662C= (p.Gly554=) n.3213C= | |
13 | g.51946350G>T | CA483894908 | ATP7B | c.*827C>A (n.*827C>A) c.*1738C>A (n.*1738C>A) c.2373C>A (p.Gly791=) c.2994C>A (p.Gly998=) c.2661C>A (p.Gly887=) c.2742C>A (p.Gly914=) c.2760C>A (p.Gly920=) n.1141C>A n.3357C>A c.1929C>A (p.Gly643=) c.1704C>A (p.Gly568=) c.2866-2059C>A (n.2866-2059C>A) n.214C>A c.955C>A c.*95C>A (n.*95C>A) n.3738C>A n.2339C>A c.2850C>A (p.Gly950=) n.340C>A c.2898C>A (p.Gly966=) c.2958C>A (p.Gly986=) c.2508C>A (p.Gly836=) c.810C>A (p.Gly270=) c.2859C>A (p.Gly953=) c.2580C>A (p.Gly860=) c.2730+3657C>A (n.2730+3657C>A) c.1662C>A (p.Gly554=) n.3213C>A | |
13 | g.51946351C>A | CA388032104 | ATP7B | c.*826G>T (n.*826G>T) c.*1737G>T (n.*1737G>T) c.2372G>T (p.Gly791Val) c.2993G>T (p.Gly998Val) c.2660G>T (p.Gly887Val) c.2741G>T (p.Gly914Val) c.2759G>T (p.Gly920Val) n.1140G>T n.3356G>T c.1928G>T (p.Gly643Val) c.1703G>T (p.Gly568Val) c.2866-2060G>T (n.2866-2060G>T) n.213G>T c.954G>T c.*94G>T (n.*94G>T) n.3737G>T n.2338G>T c.2849G>T (p.Gly950Val) n.339G>T c.2897G>T (p.Gly966Val) c.2957G>T (p.Gly986Val) c.2507G>T (p.Gly836Val) c.809G>T (p.Gly270Val) c.2858G>T (p.Gly953Val) c.2579G>T (p.Gly860Val) c.2730+3656G>T (n.2730+3656G>T) c.1661G>T (p.Gly554Val) n.3212G>T | ClinVar gnomAD v4 |
13 | g.51946351C>G | CA388032106 | ATP7B | c.*826G>C (n.*826G>C) c.*1737G>C (n.*1737G>C) c.2372G>C (p.Gly791Ala) c.2993G>C (p.Gly998Ala) c.2660G>C (p.Gly887Ala) c.2741G>C (p.Gly914Ala) c.2759G>C (p.Gly920Ala) n.1140G>C n.3356G>C c.1928G>C (p.Gly643Ala) c.1703G>C (p.Gly568Ala) c.2866-2060G>C (n.2866-2060G>C) n.213G>C c.954G>C c.*94G>C (n.*94G>C) n.3737G>C n.2338G>C c.2849G>C (p.Gly950Ala) n.339G>C c.2897G>C (p.Gly966Ala) c.2957G>C (p.Gly986Ala) c.2507G>C (p.Gly836Ala) c.809G>C (p.Gly270Ala) c.2858G>C (p.Gly953Ala) c.2579G>C (p.Gly860Ala) c.2730+3656G>C (n.2730+3656G>C) c.1661G>C (p.Gly554Ala) n.3212G>C | gnomAD v4 |
13 | g.51946351C>T | CA388032107 | ATP7B | c.*826G>A (n.*826G>A) c.*1737G>A (n.*1737G>A) c.2372G>A (p.Gly791Asp) c.2993G>A (p.Gly998Asp) c.2660G>A (p.Gly887Asp) c.2741G>A (p.Gly914Asp) c.2759G>A (p.Gly920Asp) n.1140G>A n.3356G>A c.1928G>A (p.Gly643Asp) c.1703G>A (p.Gly568Asp) c.2866-2060G>A (n.2866-2060G>A) n.213G>A c.954G>A c.*94G>A (n.*94G>A) n.3737G>A n.2338G>A c.2849G>A (p.Gly950Asp) n.339G>A c.2897G>A (p.Gly966Asp) c.2957G>A (p.Gly986Asp) c.2507G>A (p.Gly836Asp) c.809G>A (p.Gly270Asp) c.2858G>A (p.Gly953Asp) c.2579G>A (p.Gly860Asp) c.2730+3656G>A (n.2730+3656G>A) c.1661G>A (p.Gly554Asp) n.3212G>A | |
13 | g.51946352C>A | CA388032110 | ATP7B | c.*825G>T (n.*825G>T) c.*1736G>T (n.*1736G>T) c.2371G>T (p.Gly791Cys) c.2992G>T (p.Gly998Cys) c.2659G>T (p.Gly887Cys) c.2740G>T (p.Gly914Cys) c.2758G>T (p.Gly920Cys) n.1139G>T n.3355G>T c.1927G>T (p.Gly643Cys) c.1702G>T (p.Gly568Cys) c.2866-2061G>T (n.2866-2061G>T) n.212G>T c.953G>T c.*93G>T (n.*93G>T) n.3736G>T n.2337G>T c.2848G>T (p.Gly950Cys) n.338G>T c.2896G>T (p.Gly966Cys) c.2956G>T (p.Gly986Cys) c.2506G>T (p.Gly836Cys) c.808G>T (p.Gly270Cys) c.2857G>T (p.Gly953Cys) c.2578G>T (p.Gly860Cys) c.2730+3655G>T (n.2730+3655G>T) c.1660G>T (p.Gly554Cys) n.3211G>T | |
13 | g.51946352C>G | CA388032114 | ATP7B | c.*825G>C (n.*825G>C) c.*1736G>C (n.*1736G>C) c.2371G>C (p.Gly791Arg) c.2992G>C (p.Gly998Arg) c.2659G>C (p.Gly887Arg) c.2740G>C (p.Gly914Arg) c.2758G>C (p.Gly920Arg) n.1139G>C n.3355G>C c.1927G>C (p.Gly643Arg) c.1702G>C (p.Gly568Arg) c.2866-2061G>C (n.2866-2061G>C) n.212G>C c.953G>C c.*93G>C (n.*93G>C) n.3736G>C n.2337G>C c.2848G>C (p.Gly950Arg) n.338G>C c.2896G>C (p.Gly966Arg) c.2956G>C (p.Gly986Arg) c.2506G>C (p.Gly836Arg) c.808G>C (p.Gly270Arg) c.2857G>C (p.Gly953Arg) c.2578G>C (p.Gly860Arg) c.2730+3655G>C (n.2730+3655G>C) c.1660G>C (p.Gly554Arg) n.3211G>C | |
13 | g.51946352C>T | CA388032117 | ATP7B | c.*825G>A (n.*825G>A) c.*1736G>A (n.*1736G>A) c.2371G>A (p.Gly791Ser) c.2992G>A (p.Gly998Ser) c.2659G>A (p.Gly887Ser) c.2740G>A (p.Gly914Ser) c.2758G>A (p.Gly920Ser) n.1139G>A n.3355G>A c.1927G>A (p.Gly643Ser) c.1702G>A (p.Gly568Ser) c.2866-2061G>A (n.2866-2061G>A) n.212G>A c.953G>A c.*93G>A (n.*93G>A) n.3736G>A n.2337G>A c.2848G>A (p.Gly950Ser) n.338G>A c.2896G>A (p.Gly966Ser) c.2956G>A (p.Gly986Ser) c.2506G>A (p.Gly836Ser) c.808G>A (p.Gly270Ser) c.2857G>A (p.Gly953Ser) c.2578G>A (p.Gly860Ser) c.2730+3655G>A (n.2730+3655G>A) c.1660G>A (p.Gly554Ser) n.3211G>A | gnomAD v4 |
13 | g.51946353C>A | CA483894911 | ATP7B | c.*824G>T (n.*824G>T) c.*1735G>T (n.*1735G>T) c.2370G>T (p.Val790=) c.2991G>T (p.Val997=) c.2658G>T (p.Val886=) c.2739G>T (p.Val913=) c.2757G>T (p.Val919=) n.1138G>T n.3354G>T c.1926G>T (p.Val642=) c.1701G>T (p.Val567=) c.2866-2062G>T (n.2866-2062G>T) n.211G>T c.952G>T c.*92G>T (n.*92G>T) n.3735G>T n.2336G>T c.2847G>T (p.Val949=) n.337G>T c.2895G>T (p.Val965=) c.2955G>T (p.Val985=) c.2505G>T (p.Val835=) c.807G>T (p.Val269=) c.2856G>T (p.Val952=) c.2577G>T (p.Val859=) c.2730+3654G>T (n.2730+3654G>T) c.1659G>T (p.Val553=) n.3210G>T | ClinVar |
13 | g.51946353C>G | CA483894912 | ATP7B | c.*824G>C (n.*824G>C) c.*1735G>C (n.*1735G>C) c.2370G>C (p.Val790=) c.2991G>C (p.Val997=) c.2658G>C (p.Val886=) c.2739G>C (p.Val913=) c.2757G>C (p.Val919=) n.1138G>C n.3354G>C c.1926G>C (p.Val642=) c.1701G>C (p.Val567=) c.2866-2062G>C (n.2866-2062G>C) n.211G>C c.952G>C c.*92G>C (n.*92G>C) n.3735G>C n.2336G>C c.2847G>C (p.Val949=) n.337G>C c.2895G>C (p.Val965=) c.2955G>C (p.Val985=) c.2505G>C (p.Val835=) c.807G>C (p.Val269=) c.2856G>C (p.Val952=) c.2577G>C (p.Val859=) c.2730+3654G>C (n.2730+3654G>C) c.1659G>C (p.Val553=) n.3210G>C | |
13 | g.51946353C>T | CA483894910 | ATP7B | c.*824G>A (n.*824G>A) c.*1735G>A (n.*1735G>A) c.2370G>A (p.Val790=) c.2991G>A (p.Val997=) c.2658G>A (p.Val886=) c.2739G>A (p.Val913=) c.2757G>A (p.Val919=) n.1138G>A n.3354G>A c.1926G>A (p.Val642=) c.1701G>A (p.Val567=) c.2866-2062G>A (n.2866-2062G>A) n.211G>A c.952G>A c.*92G>A (n.*92G>A) n.3735G>A n.2336G>A c.2847G>A (p.Val949=) n.337G>A c.2895G>A (p.Val965=) c.2955G>A (p.Val985=) c.2505G>A (p.Val835=) c.807G>A (p.Val269=) c.2856G>A (p.Val952=) c.2577G>A (p.Val859=) c.2730+3654G>A (n.2730+3654G>A) c.1659G>A (p.Val553=) n.3210G>A | |
13 | g.51946354A= | CA2091566157 | ATP7B | c.*823T= (n.*823T=) c.*1734T= (n.*1734T=) c.2369T= (p.Val790=) c.2990T= (p.Val997=) c.2657T= (p.Val886=) c.2738T= (p.Val913=) c.2756T= (p.Val919=) n.1137T= n.3353T= c.1925T= (p.Val642=) c.1700T= (p.Val567=) c.2866-2063T= (n.2866-2063T=) n.210T= c.951T= c.*91T= (n.*91T=) n.3734T= n.2335T= c.2846T= (p.Val949=) n.336T= c.2894T= (p.Val965=) c.2954T= (p.Val985=) c.2504T= (p.Val835=) c.806T= (p.Val269=) c.2855T= (p.Val952=) c.2576T= (p.Val859=) c.2730+3653T= (n.2730+3653T=) c.1658T= (p.Val553=) n.3209T= | |
13 | g.51946354A>C | CA388032119 | ATP7B | c.*823T>G (n.*823T>G) c.*1734T>G (n.*1734T>G) c.2369T>G (p.Val790Gly) c.2990T>G (p.Val997Gly) c.2657T>G (p.Val886Gly) c.2738T>G (p.Val913Gly) c.2756T>G (p.Val919Gly) n.1137T>G n.3353T>G c.1925T>G (p.Val642Gly) c.1700T>G (p.Val567Gly) c.2866-2063T>G (n.2866-2063T>G) n.210T>G c.951T>G c.*91T>G (n.*91T>G) n.3734T>G n.2335T>G c.2846T>G (p.Val949Gly) n.336T>G c.2894T>G (p.Val965Gly) c.2954T>G (p.Val985Gly) c.2504T>G (p.Val835Gly) c.806T>G (p.Val269Gly) c.2855T>G (p.Val952Gly) c.2576T>G (p.Val859Gly) c.2730+3653T>G (n.2730+3653T>G) c.1658T>G (p.Val553Gly) n.3209T>G | dbSNP |
13 | g.51946354A>G | CA388032122 | ATP7B | c.*823T>C (n.*823T>C) c.*1734T>C (n.*1734T>C) c.2369T>C (p.Val790Ala) c.2990T>C (p.Val997Ala) c.2657T>C (p.Val886Ala) c.2738T>C (p.Val913Ala) c.2756T>C (p.Val919Ala) n.1137T>C n.3353T>C c.1925T>C (p.Val642Ala) c.1700T>C (p.Val567Ala) c.2866-2063T>C (n.2866-2063T>C) n.210T>C c.951T>C c.*91T>C (n.*91T>C) n.3734T>C n.2335T>C c.2846T>C (p.Val949Ala) n.336T>C c.2894T>C (p.Val965Ala) c.2954T>C (p.Val985Ala) c.2504T>C (p.Val835Ala) c.806T>C (p.Val269Ala) c.2855T>C (p.Val952Ala) c.2576T>C (p.Val859Ala) c.2730+3653T>C (n.2730+3653T>C) c.1658T>C (p.Val553Ala) n.3209T>C | |
13 | g.51946354A>T | CA388032124 | ATP7B | c.*823T>A (n.*823T>A) c.*1734T>A (n.*1734T>A) c.2369T>A (p.Val790Glu) c.2990T>A (p.Val997Glu) c.2657T>A (p.Val886Glu) c.2738T>A (p.Val913Glu) c.2756T>A (p.Val919Glu) n.1137T>A n.3353T>A c.1925T>A (p.Val642Glu) c.1700T>A (p.Val567Glu) c.2866-2063T>A (n.2866-2063T>A) n.210T>A c.951T>A c.*91T>A (n.*91T>A) n.3734T>A n.2335T>A c.2846T>A (p.Val949Glu) n.336T>A c.2894T>A (p.Val965Glu) c.2954T>A (p.Val985Glu) c.2504T>A (p.Val835Glu) c.806T>A (p.Val269Glu) c.2855T>A (p.Val952Glu) c.2576T>A (p.Val859Glu) c.2730+3653T>A (n.2730+3653T>A) c.1658T>A (p.Val553Glu) n.3209T>A | |
13 | g.51946355C>A | CA388032126 | ATP7B | c.*822G>T (n.*822G>T) c.*1733G>T (n.*1733G>T) c.2368G>T (p.Val790Leu) c.2989G>T (p.Val997Leu) c.2656G>T (p.Val886Leu) c.2737G>T (p.Val913Leu) c.2755G>T (p.Val919Leu) n.1136G>T n.3352G>T c.1924G>T (p.Val642Leu) c.1699G>T (p.Val567Leu) c.2866-2064G>T (n.2866-2064G>T) n.209G>T c.950G>T c.*90G>T (n.*90G>T) n.3733G>T n.2334G>T c.2845G>T (p.Val949Leu) n.335G>T c.2893G>T (p.Val965Leu) c.2953G>T (p.Val985Leu) c.2503G>T (p.Val835Leu) c.805G>T (p.Val269Leu) c.2854G>T (p.Val952Leu) c.2575G>T (p.Val859Leu) c.2730+3652G>T (n.2730+3652G>T) c.1657G>T (p.Val553Leu) n.3208G>T | |
13 | g.51946355C= | CA2091566158 | ATP7B | c.*822G= (n.*822G=) c.*1733G= (n.*1733G=) c.2368G= (p.Val790=) c.2989G= (p.Val997=) c.2656G= (p.Val886=) c.2737G= (p.Val913=) c.2755G= (p.Val919=) n.1136G= n.3352G= c.1924G= (p.Val642=) c.1699G= (p.Val567=) c.2866-2064G= (n.2866-2064G=) n.209G= c.950G= c.*90G= (n.*90G=) n.3733G= n.2334G= c.2845G= (p.Val949=) n.335G= c.2893G= (p.Val965=) c.2953G= (p.Val985=) c.2503G= (p.Val835=) c.805G= (p.Val269=) c.2854G= (p.Val952=) c.2575G= (p.Val859=) c.2730+3652G= (n.2730+3652G=) c.1657G= (p.Val553=) n.3208G= | |
13 | g.51946355C>G | CA388032130 | ATP7B | c.*822G>C (n.*822G>C) c.*1733G>C (n.*1733G>C) c.2368G>C (p.Val790Leu) c.2989G>C (p.Val997Leu) c.2656G>C (p.Val886Leu) c.2737G>C (p.Val913Leu) c.2755G>C (p.Val919Leu) n.1136G>C n.3352G>C c.1924G>C (p.Val642Leu) c.1699G>C (p.Val567Leu) c.2866-2064G>C (n.2866-2064G>C) n.209G>C c.950G>C c.*90G>C (n.*90G>C) n.3733G>C n.2334G>C c.2845G>C (p.Val949Leu) n.335G>C c.2893G>C (p.Val965Leu) c.2953G>C (p.Val985Leu) c.2503G>C (p.Val835Leu) c.805G>C (p.Val269Leu) c.2854G>C (p.Val952Leu) c.2575G>C (p.Val859Leu) c.2730+3652G>C (n.2730+3652G>C) c.1657G>C (p.Val553Leu) n.3208G>C | gnomAD v4 |
13 | g.51946355C>T | CA388032133 | ATP7B | c.*822G>A (n.*822G>A) c.*1733G>A (n.*1733G>A) c.2368G>A (p.Val790Met) c.2989G>A (p.Val997Met) c.2656G>A (p.Val886Met) c.2737G>A (p.Val913Met) c.2755G>A (p.Val919Met) n.1136G>A n.3352G>A c.1924G>A (p.Val642Met) c.1699G>A (p.Val567Met) c.2866-2064G>A (n.2866-2064G>A) n.209G>A c.950G>A c.*90G>A (n.*90G>A) n.3733G>A n.2334G>A c.2845G>A (p.Val949Met) n.335G>A c.2893G>A (p.Val965Met) c.2953G>A (p.Val985Met) c.2503G>A (p.Val835Met) c.805G>A (p.Val269Met) c.2854G>A (p.Val952Met) c.2575G>A (p.Val859Met) c.2730+3652G>A (n.2730+3652G>A) c.1657G>A (p.Val553Met) n.3208G>A | ClinVar dbSNP gnomAD v4 |
13 | g.51946356C>A | CA6988844 | ATP7B | c.*821G>T (n.*821G>T) c.*1732G>T (n.*1732G>T) c.2367G>T (p.Met789Ile) c.2988G>T (p.Met996Ile) c.2655G>T (p.Met885Ile) c.2736G>T (p.Met912Ile) c.2754G>T (p.Met918Ile) n.1135G>T n.3351G>T c.1923G>T (p.Met641Ile) c.1698G>T (p.Met566Ile) c.2866-2065G>T (n.2866-2065G>T) n.208G>T c.949G>T c.*89G>T (n.*89G>T) n.3732G>T n.2333G>T c.2844G>T (p.Met948Ile) n.334G>T c.2892G>T (p.Met964Ile) c.2952G>T (p.Met984Ile) c.2502G>T (p.Met834Ile) c.804G>T (p.Met268Ile) c.2853G>T (p.Met951Ile) c.2574G>T (p.Met858Ile) c.2730+3651G>T (n.2730+3651G>T) c.1656G>T (p.Met552Ile) n.3207G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51946356C= | CA2091566159 | ATP7B | c.*821G= (n.*821G=) c.*1732G= (n.*1732G=) c.2367G= (p.Met789=) c.2988G= (p.Met996=) c.2655G= (p.Met885=) c.2736G= (p.Met912=) c.2754G= (p.Met918=) n.1135G= n.3351G= c.1923G= (p.Met641=) c.1698G= (p.Met566=) c.2866-2065G= (n.2866-2065G=) n.208G= c.949G= c.*89G= (n.*89G=) n.3732G= n.2333G= c.2844G= (p.Met948=) n.334G= c.2892G= (p.Met964=) c.2952G= (p.Met984=) c.2502G= (p.Met834=) c.804G= (p.Met268=) c.2853G= (p.Met951=) c.2574G= (p.Met858=) c.2730+3651G= (n.2730+3651G=) c.1656G= (p.Met552=) n.3207G= | |
13 | g.51946356C>G | CA388032144 | ATP7B | c.*821G>C (n.*821G>C) c.*1732G>C (n.*1732G>C) c.2367G>C (p.Met789Ile) c.2988G>C (p.Met996Ile) c.2655G>C (p.Met885Ile) c.2736G>C (p.Met912Ile) c.2754G>C (p.Met918Ile) n.1135G>C n.3351G>C c.1923G>C (p.Met641Ile) c.1698G>C (p.Met566Ile) c.2866-2065G>C (n.2866-2065G>C) n.208G>C c.949G>C c.*89G>C (n.*89G>C) n.3732G>C n.2333G>C c.2844G>C (p.Met948Ile) n.334G>C c.2892G>C (p.Met964Ile) c.2952G>C (p.Met984Ile) c.2502G>C (p.Met834Ile) c.804G>C (p.Met268Ile) c.2853G>C (p.Met951Ile) c.2574G>C (p.Met858Ile) c.2730+3651G>C (n.2730+3651G>C) c.1656G>C (p.Met552Ile) n.3207G>C | |
13 | g.51946356C>T | CA388032141 | ATP7B | c.*821G>A (n.*821G>A) c.*1732G>A (n.*1732G>A) c.2367G>A (p.Met789Ile) c.2988G>A (p.Met996Ile) c.2655G>A (p.Met885Ile) c.2736G>A (p.Met912Ile) c.2754G>A (p.Met918Ile) n.1135G>A n.3351G>A c.1923G>A (p.Met641Ile) c.1698G>A (p.Met566Ile) c.2866-2065G>A (n.2866-2065G>A) n.208G>A c.949G>A c.*89G>A (n.*89G>A) n.3732G>A n.2333G>A c.2844G>A (p.Met948Ile) n.334G>A c.2892G>A (p.Met964Ile) c.2952G>A (p.Met984Ile) c.2502G>A (p.Met834Ile) c.804G>A (p.Met268Ile) c.2853G>A (p.Met951Ile) c.2574G>A (p.Met858Ile) c.2730+3651G>A (n.2730+3651G>A) c.1656G>A (p.Met552Ile) n.3207G>A | |
13 | g.51946357del | CA2573149710 | ATP7B | c.*820del (n.*820del) c.*1731del (n.*1731del) c.2366del (p.Met789ArgfsTer26) c.2987del (p.Met996ArgfsTer26) c.2654del (p.Met885ArgfsTer26) c.2735del (p.Met912ArgfsTer26) c.2753del (p.Met918ArgfsTer26) n.1134del n.3350del c.1922del (p.Met641ArgfsTer26) c.1697del (p.Met566ArgfsTer26) c.2866-2066del (n.2866-2066del) n.207del c.948del c.*88del (n.*88del) n.3731del n.2332del c.2843del (p.Met948ArgfsTer26) n.333del c.2891del (p.Met964ArgfsTer26) c.2951del (p.Met984ArgfsTer26) c.2501del (p.Met834ArgfsTer26) c.803del (p.Met268ArgfsTer26) c.803del (p.Met268ArgfsTer?) c.2852del (p.Met951ArgfsTer26) c.2987del (p.Met996ArgfsTer?) c.2573del (p.Met858ArgfsTer26) c.2730+3650del (n.2730+3650del) c.1655del (p.Met552ArgfsTer26) n.3206del | ClinVar dbSNP |
13 | g.51946357A= | CA2091566160 | ATP7B | c.*820T= (n.*820T=) c.*1731T= (n.*1731T=) c.2366T= (p.Met789=) c.2987T= (p.Met996=) c.2654T= (p.Met885=) c.2735T= (p.Met912=) c.2753T= (p.Met918=) n.1134T= n.3350T= c.1922T= (p.Met641=) c.1697T= (p.Met566=) c.2866-2066T= (n.2866-2066T=) n.207T= c.948T= c.*88T= (n.*88T=) n.3731T= n.2332T= c.2843T= (p.Met948=) n.333T= c.2891T= (p.Met964=) c.2951T= (p.Met984=) c.2501T= (p.Met834=) c.803T= (p.Met268=) c.2852T= (p.Met951=) c.2573T= (p.Met858=) c.2730+3650T= (n.2730+3650T=) c.1655T= (p.Met552=) n.3206T= | |
13 | g.51946357A>C | CA388032146 | ATP7B | c.*820T>G (n.*820T>G) c.*1731T>G (n.*1731T>G) c.2366T>G (p.Met789Arg) c.2987T>G (p.Met996Arg) c.2654T>G (p.Met885Arg) c.2735T>G (p.Met912Arg) c.2753T>G (p.Met918Arg) n.1134T>G n.3350T>G c.1922T>G (p.Met641Arg) c.1697T>G (p.Met566Arg) c.2866-2066T>G (n.2866-2066T>G) n.207T>G c.948T>G c.*88T>G (n.*88T>G) n.3731T>G n.2332T>G c.2843T>G (p.Met948Arg) n.333T>G c.2891T>G (p.Met964Arg) c.2951T>G (p.Met984Arg) c.2501T>G (p.Met834Arg) c.803T>G (p.Met268Arg) c.2852T>G (p.Met951Arg) c.2573T>G (p.Met858Arg) c.2730+3650T>G (n.2730+3650T>G) c.1655T>G (p.Met552Arg) n.3206T>G | |
13 | g.51946357A>G | CA6988845 | ATP7B | c.*820T>C (n.*820T>C) c.*1731T>C (n.*1731T>C) c.2366T>C (p.Met789Thr) c.2987T>C (p.Met996Thr) c.2654T>C (p.Met885Thr) c.2735T>C (p.Met912Thr) c.2753T>C (p.Met918Thr) n.1134T>C n.3350T>C c.1922T>C (p.Met641Thr) c.1697T>C (p.Met566Thr) c.2866-2066T>C (n.2866-2066T>C) n.207T>C c.948T>C c.*88T>C (n.*88T>C) n.3731T>C n.2332T>C c.2843T>C (p.Met948Thr) n.333T>C c.2891T>C (p.Met964Thr) c.2951T>C (p.Met984Thr) c.2501T>C (p.Met834Thr) c.803T>C (p.Met268Thr) c.2852T>C (p.Met951Thr) c.2573T>C (p.Met858Thr) c.2730+3650T>C (n.2730+3650T>C) c.1655T>C (p.Met552Thr) n.3206T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51946357A>T | CA388032155 | ATP7B | c.*820T>A (n.*820T>A) c.*1731T>A (n.*1731T>A) c.2366T>A (p.Met789Lys) c.2987T>A (p.Met996Lys) c.2654T>A (p.Met885Lys) c.2735T>A (p.Met912Lys) c.2753T>A (p.Met918Lys) n.1134T>A n.3350T>A c.1922T>A (p.Met641Lys) c.1697T>A (p.Met566Lys) c.2866-2066T>A (n.2866-2066T>A) n.207T>A c.948T>A c.*88T>A (n.*88T>A) n.3731T>A n.2332T>A c.2843T>A (p.Met948Lys) n.333T>A c.2891T>A (p.Met964Lys) c.2951T>A (p.Met984Lys) c.2501T>A (p.Met834Lys) c.803T>A (p.Met268Lys) c.2852T>A (p.Met951Lys) c.2573T>A (p.Met858Lys) c.2730+3650T>A (n.2730+3650T>A) c.1655T>A (p.Met552Lys) n.3206T>A | |
13 | g.51946358T>A | CA388032163 | ATP7B | c.*819A>T (n.*819A>T) c.*1730A>T (n.*1730A>T) c.2365A>T (p.Met789Leu) c.2986A>T (p.Met996Leu) c.2653A>T (p.Met885Leu) c.2734A>T (p.Met912Leu) c.2752A>T (p.Met918Leu) n.1133A>T n.3349A>T c.1921A>T (p.Met641Leu) c.1696A>T (p.Met566Leu) c.2866-2067A>T (n.2866-2067A>T) n.206A>T c.947A>T c.*87A>T (n.*87A>T) n.3730A>T n.2331A>T c.2842A>T (p.Met948Leu) n.332A>T c.2890A>T (p.Met964Leu) c.2950A>T (p.Met984Leu) c.2500A>T (p.Met834Leu) c.802A>T (p.Met268Leu) c.2851A>T (p.Met951Leu) c.2572A>T (p.Met858Leu) c.2730+3649A>T (n.2730+3649A>T) c.1654A>T (p.Met552Leu) n.3205A>T | |
13 | g.51946358T>C | CA388032164 | ATP7B | c.*819A>G (n.*819A>G) c.*1730A>G (n.*1730A>G) c.2365A>G (p.Met789Val) c.2986A>G (p.Met996Val) c.2653A>G (p.Met885Val) c.2734A>G (p.Met912Val) c.2752A>G (p.Met918Val) n.1133A>G n.3349A>G c.1921A>G (p.Met641Val) c.1696A>G (p.Met566Val) c.2866-2067A>G (n.2866-2067A>G) n.206A>G c.947A>G c.*87A>G (n.*87A>G) n.3730A>G n.2331A>G c.2842A>G (p.Met948Val) n.332A>G c.2890A>G (p.Met964Val) c.2950A>G (p.Met984Val) c.2500A>G (p.Met834Val) c.802A>G (p.Met268Val) c.2851A>G (p.Met951Val) c.2572A>G (p.Met858Val) c.2730+3649A>G (n.2730+3649A>G) c.1654A>G (p.Met552Val) n.3205A>G | ClinVar |
13 | g.51946358T>G | CA388032168 | ATP7B | c.*819A>C (n.*819A>C) c.*1730A>C (n.*1730A>C) c.2365A>C (p.Met789Leu) c.2986A>C (p.Met996Leu) c.2653A>C (p.Met885Leu) c.2734A>C (p.Met912Leu) c.2752A>C (p.Met918Leu) n.1133A>C n.3349A>C c.1921A>C (p.Met641Leu) c.1696A>C (p.Met566Leu) c.2866-2067A>C (n.2866-2067A>C) n.206A>C c.947A>C c.*87A>C (n.*87A>C) n.3730A>C n.2331A>C c.2842A>C (p.Met948Leu) n.332A>C c.2890A>C (p.Met964Leu) c.2950A>C (p.Met984Leu) c.2500A>C (p.Met834Leu) c.802A>C (p.Met268Leu) c.2851A>C (p.Met951Leu) c.2572A>C (p.Met858Leu) c.2730+3649A>C (n.2730+3649A>C) c.1654A>C (p.Met552Leu) n.3205A>C | |
13 | g.51946359G>A | CA6988846 | ATP7B | c.*818C>T (n.*818C>T) c.*1729C>T (n.*1729C>T) c.2364C>T (p.Val788=) c.2985C>T (p.Val995=) c.2652C>T (p.Val884=) c.2733C>T (p.Val911=) c.2751C>T (p.Val917=) n.1132C>T n.3348C>T c.1920C>T (p.Val640=) c.1695C>T (p.Val565=) c.2866-2068C>T (n.2866-2068C>T) n.205C>T c.946C>T c.*86C>T (n.*86C>T) n.3729C>T n.2330C>T c.2841C>T (p.Val947=) n.331C>T c.2889C>T (p.Val963=) c.2949C>T (p.Val983=) c.2499C>T (p.Val833=) c.801C>T (p.Val267=) c.2850C>T (p.Val950=) c.2571C>T (p.Val857=) c.2730+3648C>T (n.2730+3648C>T) c.1653C>T (p.Val551=) n.3204C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51946359G>C | CA483894919 | ATP7B | c.*818C>G (n.*818C>G) c.*1729C>G (n.*1729C>G) c.2364C>G (p.Val788=) c.2985C>G (p.Val995=) c.2652C>G (p.Val884=) c.2733C>G (p.Val911=) c.2751C>G (p.Val917=) n.1132C>G n.3348C>G c.1920C>G (p.Val640=) c.1695C>G (p.Val565=) c.2866-2068C>G (n.2866-2068C>G) n.205C>G c.946C>G c.*86C>G (n.*86C>G) n.3729C>G n.2330C>G c.2841C>G (p.Val947=) n.331C>G c.2889C>G (p.Val963=) c.2949C>G (p.Val983=) c.2499C>G (p.Val833=) c.801C>G (p.Val267=) c.2850C>G (p.Val950=) c.2571C>G (p.Val857=) c.2730+3648C>G (n.2730+3648C>G) c.1653C>G (p.Val551=) n.3204C>G | |
13 | g.51946359G= | CA2091566161 | ATP7B | c.*818C= (n.*818C=) c.*1729C= (n.*1729C=) c.2364C= (p.Val788=) c.2985C= (p.Val995=) c.2652C= (p.Val884=) c.2733C= (p.Val911=) c.2751C= (p.Val917=) n.1132C= n.3348C= c.1920C= (p.Val640=) c.1695C= (p.Val565=) c.2866-2068C= (n.2866-2068C=) n.205C= c.946C= c.*86C= (n.*86C=) n.3729C= n.2330C= c.2841C= (p.Val947=) n.331C= c.2889C= (p.Val963=) c.2949C= (p.Val983=) c.2499C= (p.Val833=) c.801C= (p.Val267=) c.2850C= (p.Val950=) c.2571C= (p.Val857=) c.2730+3648C= (n.2730+3648C=) c.1653C= (p.Val551=) n.3204C= | |
13 | g.51946359G>T | CA483894918 | ATP7B | c.*818C>A (n.*818C>A) c.*1729C>A (n.*1729C>A) c.2364C>A (p.Val788=) c.2985C>A (p.Val995=) c.2652C>A (p.Val884=) c.2733C>A (p.Val911=) c.2751C>A (p.Val917=) n.1132C>A n.3348C>A c.1920C>A (p.Val640=) c.1695C>A (p.Val565=) c.2866-2068C>A (n.2866-2068C>A) n.205C>A c.946C>A c.*86C>A (n.*86C>A) n.3729C>A n.2330C>A c.2841C>A (p.Val947=) n.331C>A c.2889C>A (p.Val963=) c.2949C>A (p.Val983=) c.2499C>A (p.Val833=) c.801C>A (p.Val267=) c.2850C>A (p.Val950=) c.2571C>A (p.Val857=) c.2730+3648C>A (n.2730+3648C>A) c.1653C>A (p.Val551=) n.3204C>A | |
13 | g.51946360A= | CA2091566162 | ATP7B | c.*817T= (n.*817T=) c.*1728T= (n.*1728T=) c.2363T= (p.Val788=) c.2984T= (p.Val995=) c.2651T= (p.Val884=) c.2732T= (p.Val911=) c.2750T= (p.Val917=) n.1131T= n.3347T= c.1919T= (p.Val640=) c.1694T= (p.Val565=) c.2866-2069T= (n.2866-2069T=) n.204T= c.945T= c.*85T= (n.*85T=) n.3728T= n.2329T= c.2840T= (p.Val947=) n.330T= c.2888T= (p.Val963=) c.2948T= (p.Val983=) c.2498T= (p.Val833=) c.800T= (p.Val267=) c.2849T= (p.Val950=) c.2570T= (p.Val857=) c.2730+3647T= (n.2730+3647T=) c.1652T= (p.Val551=) n.3203T= | |
13 | g.51946360A>C | CA388032172 | ATP7B | c.*817T>G (n.*817T>G) c.*1728T>G (n.*1728T>G) c.2363T>G (p.Val788Gly) c.2984T>G (p.Val995Gly) c.2651T>G (p.Val884Gly) c.2732T>G (p.Val911Gly) c.2750T>G (p.Val917Gly) n.1131T>G n.3347T>G c.1919T>G (p.Val640Gly) c.1694T>G (p.Val565Gly) c.2866-2069T>G (n.2866-2069T>G) n.204T>G c.945T>G c.*85T>G (n.*85T>G) n.3728T>G n.2329T>G c.2840T>G (p.Val947Gly) n.330T>G c.2888T>G (p.Val963Gly) c.2948T>G (p.Val983Gly) c.2498T>G (p.Val833Gly) c.800T>G (p.Val267Gly) c.2849T>G (p.Val950Gly) c.2570T>G (p.Val857Gly) c.2730+3647T>G (n.2730+3647T>G) c.1652T>G (p.Val551Gly) n.3203T>G | dbSNP |
13 | g.51946360A>G | CA6988847 | ATP7B | c.*817T>C (n.*817T>C) c.*1728T>C (n.*1728T>C) c.2363T>C (p.Val788Ala) c.2984T>C (p.Val995Ala) c.2651T>C (p.Val884Ala) c.2732T>C (p.Val911Ala) c.2750T>C (p.Val917Ala) n.1131T>C n.3347T>C c.1919T>C (p.Val640Ala) c.1694T>C (p.Val565Ala) c.2866-2069T>C (n.2866-2069T>C) n.204T>C c.945T>C c.*85T>C (n.*85T>C) n.3728T>C n.2329T>C c.2840T>C (p.Val947Ala) n.330T>C c.2888T>C (p.Val963Ala) c.2948T>C (p.Val983Ala) c.2498T>C (p.Val833Ala) c.800T>C (p.Val267Ala) c.2849T>C (p.Val950Ala) c.2570T>C (p.Val857Ala) c.2730+3647T>C (n.2730+3647T>C) c.1652T>C (p.Val551Ala) n.3203T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51946360A>T | CA388032173 | ATP7B | c.*817T>A (n.*817T>A) c.*1728T>A (n.*1728T>A) c.2363T>A (p.Val788Asp) c.2984T>A (p.Val995Asp) c.2651T>A (p.Val884Asp) c.2732T>A (p.Val911Asp) c.2750T>A (p.Val917Asp) n.1131T>A n.3347T>A c.1919T>A (p.Val640Asp) c.1694T>A (p.Val565Asp) c.2866-2069T>A (n.2866-2069T>A) n.204T>A c.945T>A c.*85T>A (n.*85T>A) n.3728T>A n.2329T>A c.2840T>A (p.Val947Asp) n.330T>A c.2888T>A (p.Val963Asp) c.2948T>A (p.Val983Asp) c.2498T>A (p.Val833Asp) c.800T>A (p.Val267Asp) c.2849T>A (p.Val950Asp) c.2570T>A (p.Val857Asp) c.2730+3647T>A (n.2730+3647T>A) c.1652T>A (p.Val551Asp) n.3203T>A | |
13 | g.51946361C>A | CA388032175 | ATP7B | c.*816G>T (n.*816G>T) c.*1727G>T (n.*1727G>T) c.2362G>T (p.Val788Phe) c.2983G>T (p.Val995Phe) c.2650G>T (p.Val884Phe) c.2731G>T (p.Val911Phe) c.2749G>T (p.Val917Phe) n.1130G>T n.3346G>T c.1918G>T (p.Val640Phe) c.1693G>T (p.Val565Phe) c.2866-2070G>T (n.2866-2070G>T) n.203G>T c.944G>T c.*84G>T (n.*84G>T) n.3727G>T n.2328G>T c.2839G>T (p.Val947Phe) n.329G>T c.2887G>T (p.Val963Phe) c.2947G>T (p.Val983Phe) c.2497G>T (p.Val833Phe) c.799G>T (p.Val267Phe) c.2848G>T (p.Val950Phe) c.2569G>T (p.Val857Phe) c.2730+3646G>T (n.2730+3646G>T) c.1651G>T (p.Val551Phe) n.3202G>T | |
13 | g.51946361C= | CA2091566163 | ATP7B | c.*816G= (n.*816G=) c.*1727G= (n.*1727G=) c.2362G= (p.Val788=) c.2983G= (p.Val995=) c.2650G= (p.Val884=) c.2731G= (p.Val911=) c.2749G= (p.Val917=) n.1130G= n.3346G= c.1918G= (p.Val640=) c.1693G= (p.Val565=) c.2866-2070G= (n.2866-2070G=) n.203G= c.944G= c.*84G= (n.*84G=) n.3727G= n.2328G= c.2839G= (p.Val947=) n.329G= c.2887G= (p.Val963=) c.2947G= (p.Val983=) c.2497G= (p.Val833=) c.799G= (p.Val267=) c.2848G= (p.Val950=) c.2569G= (p.Val857=) c.2730+3646G= (n.2730+3646G=) c.1651G= (p.Val551=) n.3202G= | |
13 | g.51946361C>G | CA388032178 | ATP7B | c.*816G>C (n.*816G>C) c.*1727G>C (n.*1727G>C) c.2362G>C (p.Val788Leu) c.2983G>C (p.Val995Leu) c.2650G>C (p.Val884Leu) c.2731G>C (p.Val911Leu) c.2749G>C (p.Val917Leu) n.1130G>C n.3346G>C c.1918G>C (p.Val640Leu) c.1693G>C (p.Val565Leu) c.2866-2070G>C (n.2866-2070G>C) n.203G>C c.944G>C c.*84G>C (n.*84G>C) n.3727G>C n.2328G>C c.2839G>C (p.Val947Leu) n.329G>C c.2887G>C (p.Val963Leu) c.2947G>C (p.Val983Leu) c.2497G>C (p.Val833Leu) c.799G>C (p.Val267Leu) c.2848G>C (p.Val950Leu) c.2569G>C (p.Val857Leu) c.2730+3646G>C (n.2730+3646G>C) c.1651G>C (p.Val551Leu) n.3202G>C | dbSNP COSMIC |
13 | g.51946361C>T | CA388032180 | ATP7B | c.*816G>A (n.*816G>A) c.*1727G>A (n.*1727G>A) c.2362G>A (p.Val788Ile) c.2983G>A (p.Val995Ile) c.2650G>A (p.Val884Ile) c.2731G>A (p.Val911Ile) c.2749G>A (p.Val917Ile) n.1130G>A n.3346G>A c.1918G>A (p.Val640Ile) c.1693G>A (p.Val565Ile) c.2866-2070G>A (n.2866-2070G>A) n.203G>A c.944G>A c.*84G>A (n.*84G>A) n.3727G>A n.2328G>A c.2839G>A (p.Val947Ile) n.329G>A c.2887G>A (p.Val963Ile) c.2947G>A (p.Val983Ile) c.2497G>A (p.Val833Ile) c.799G>A (p.Val267Ile) c.2848G>A (p.Val950Ile) c.2569G>A (p.Val857Ile) c.2730+3646G>A (n.2730+3646G>A) c.1651G>A (p.Val551Ile) n.3202G>A | dbSNP |
13 | g.51946362A>C | CA483894921 | ATP7B | c.*815T>G (n.*815T>G) c.*1726T>G (n.*1726T>G) c.2361T>G (p.Ala787=) c.2982T>G (p.Ala994=) c.2649T>G (p.Ala883=) c.2730T>G (p.Ala910=) c.2748T>G (p.Ala916=) n.1129T>G n.3345T>G c.1917T>G (p.Ala639=) c.1692T>G (p.Ala564=) c.2866-2071T>G (n.2866-2071T>G) n.202T>G c.943T>G c.*83T>G (n.*83T>G) n.3726T>G n.2327T>G c.2838T>G (p.Ala946=) n.328T>G c.2886T>G (p.Ala962=) c.2946T>G (p.Ala982=) c.2496T>G (p.Ala832=) c.798T>G (p.Ala266=) c.2847T>G (p.Ala949=) c.2568T>G (p.Ala856=) c.2730+3645T>G (n.2730+3645T>G) c.1650T>G (p.Ala550=) n.3201T>G | |
13 | g.51946362A>G | CA483894923 | ATP7B | c.*815T>C (n.*815T>C) c.*1726T>C (n.*1726T>C) c.2361T>C (p.Ala787=) c.2982T>C (p.Ala994=) c.2649T>C (p.Ala883=) c.2730T>C (p.Ala910=) c.2748T>C (p.Ala916=) n.1129T>C n.3345T>C c.1917T>C (p.Ala639=) c.1692T>C (p.Ala564=) c.2866-2071T>C (n.2866-2071T>C) n.202T>C c.943T>C c.*83T>C (n.*83T>C) n.3726T>C n.2327T>C c.2838T>C (p.Ala946=) n.328T>C c.2886T>C (p.Ala962=) c.2946T>C (p.Ala982=) c.2496T>C (p.Ala832=) c.798T>C (p.Ala266=) c.2847T>C (p.Ala949=) c.2568T>C (p.Ala856=) c.2730+3645T>C (n.2730+3645T>C) c.1650T>C (p.Ala550=) n.3201T>C | dbSNP |
13 | g.51946362A>T | CA483894924 | ATP7B | c.*815T>A (n.*815T>A) c.*1726T>A (n.*1726T>A) c.2361T>A (p.Ala787=) c.2982T>A (p.Ala994=) c.2649T>A (p.Ala883=) c.2730T>A (p.Ala910=) c.2748T>A (p.Ala916=) n.1129T>A n.3345T>A c.1917T>A (p.Ala639=) c.1692T>A (p.Ala564=) c.2866-2071T>A (n.2866-2071T>A) n.202T>A c.943T>A c.*83T>A (n.*83T>A) n.3726T>A n.2327T>A c.2838T>A (p.Ala946=) n.328T>A c.2886T>A (p.Ala962=) c.2946T>A (p.Ala982=) c.2496T>A (p.Ala832=) c.798T>A (p.Ala266=) c.2847T>A (p.Ala949=) c.2568T>A (p.Ala856=) c.2730+3645T>A (n.2730+3645T>A) c.1650T>A (p.Ala550=) n.3201T>A | |
13 | g.51946363G>A | CA388032186 | ATP7B | c.*814C>T (n.*814C>T) c.*1725C>T (n.*1725C>T) c.2360C>T (p.Ala787Val) c.2981C>T (p.Ala994Val) c.2648C>T (p.Ala883Val) c.2729C>T (p.Ala910Val) c.2747C>T (p.Ala916Val) n.1128C>T n.3344C>T c.1916C>T (p.Ala639Val) c.1691C>T (p.Ala564Val) c.2866-2072C>T (n.2866-2072C>T) n.201C>T c.942C>T c.*82C>T (n.*82C>T) n.3725C>T n.2326C>T c.2837C>T (p.Ala946Val) n.327C>T c.2885C>T (p.Ala962Val) c.2945C>T (p.Ala982Val) c.2495C>T (p.Ala832Val) c.797C>T (p.Ala266Val) c.2846C>T (p.Ala949Val) c.2567C>T (p.Ala856Val) c.2730+3644C>T (n.2730+3644C>T) c.1649C>T (p.Ala550Val) n.3200C>T | |
13 | g.51946363G>C | CA388032184 | ATP7B | c.*814C>G (n.*814C>G) c.*1725C>G (n.*1725C>G) c.2360C>G (p.Ala787Gly) c.2981C>G (p.Ala994Gly) c.2648C>G (p.Ala883Gly) c.2729C>G (p.Ala910Gly) c.2747C>G (p.Ala916Gly) n.1128C>G n.3344C>G c.1916C>G (p.Ala639Gly) c.1691C>G (p.Ala564Gly) c.2866-2072C>G (n.2866-2072C>G) n.201C>G c.942C>G c.*82C>G (n.*82C>G) n.3725C>G n.2326C>G c.2837C>G (p.Ala946Gly) n.327C>G c.2885C>G (p.Ala962Gly) c.2945C>G (p.Ala982Gly) c.2495C>G (p.Ala832Gly) c.797C>G (p.Ala266Gly) c.2846C>G (p.Ala949Gly) c.2567C>G (p.Ala856Gly) c.2730+3644C>G (n.2730+3644C>G) c.1649C>G (p.Ala550Gly) n.3200C>G | |
13 | g.51946363G>T | CA388032182 | ATP7B | c.*814C>A (n.*814C>A) c.*1725C>A (n.*1725C>A) c.2360C>A (p.Ala787Asp) c.2981C>A (p.Ala994Asp) c.2648C>A (p.Ala883Asp) c.2729C>A (p.Ala910Asp) c.2747C>A (p.Ala916Asp) n.1128C>A n.3344C>A c.1916C>A (p.Ala639Asp) c.1691C>A (p.Ala564Asp) c.2866-2072C>A (n.2866-2072C>A) n.201C>A c.942C>A c.*82C>A (n.*82C>A) n.3725C>A n.2326C>A c.2837C>A (p.Ala946Asp) n.327C>A c.2885C>A (p.Ala962Asp) c.2945C>A (p.Ala982Asp) c.2495C>A (p.Ala832Asp) c.797C>A (p.Ala266Asp) c.2846C>A (p.Ala949Asp) c.2567C>A (p.Ala856Asp) c.2730+3644C>A (n.2730+3644C>A) c.1649C>A (p.Ala550Asp) n.3200C>A | |
13 | g.51946364C>A | CA388032190 | ATP7B | c.*813G>T (n.*813G>T) c.*1724G>T (n.*1724G>T) c.2359G>T (p.Ala787Ser) c.2980G>T (p.Ala994Ser) c.2647G>T (p.Ala883Ser) c.2728G>T (p.Ala910Ser) c.2746G>T (p.Ala916Ser) n.1127G>T n.3343G>T c.1915G>T (p.Ala639Ser) c.1690G>T (p.Ala564Ser) c.2866-2073G>T (n.2866-2073G>T) n.200G>T c.941G>T c.*81G>T (n.*81G>T) n.3724G>T n.2325G>T c.2836G>T (p.Ala946Ser) n.326G>T c.2884G>T (p.Ala962Ser) c.2944G>T (p.Ala982Ser) c.2494G>T (p.Ala832Ser) c.796G>T (p.Ala266Ser) c.2845G>T (p.Ala949Ser) c.2566G>T (p.Ala856Ser) c.2730+3643G>T (n.2730+3643G>T) c.1648G>T (p.Ala550Ser) n.3199G>T | ClinVar dbSNP gnomAD v4 |
13 | g.51946364C= | CA2091566164 | ATP7B | c.*813G= (n.*813G=) c.*1724G= (n.*1724G=) c.2359G= (p.Ala787=) c.2980G= (p.Ala994=) c.2647G= (p.Ala883=) c.2728G= (p.Ala910=) c.2746G= (p.Ala916=) n.1127G= n.3343G= c.1915G= (p.Ala639=) c.1690G= (p.Ala564=) c.2866-2073G= (n.2866-2073G=) n.200G= c.941G= c.*81G= (n.*81G=) n.3724G= n.2325G= c.2836G= (p.Ala946=) n.326G= c.2884G= (p.Ala962=) c.2944G= (p.Ala982=) c.2494G= (p.Ala832=) c.796G= (p.Ala266=) c.2845G= (p.Ala949=) c.2566G= (p.Ala856=) c.2730+3643G= (n.2730+3643G=) c.1648G= (p.Ala550=) n.3199G= | |
13 | g.51946364C>G | CA388032192 | ATP7B | c.*813G>C (n.*813G>C) c.*1724G>C (n.*1724G>C) c.2359G>C (p.Ala787Pro) c.2980G>C (p.Ala994Pro) c.2647G>C (p.Ala883Pro) c.2728G>C (p.Ala910Pro) c.2746G>C (p.Ala916Pro) n.1127G>C n.3343G>C c.1915G>C (p.Ala639Pro) c.1690G>C (p.Ala564Pro) c.2866-2073G>C (n.2866-2073G>C) n.200G>C c.941G>C c.*81G>C (n.*81G>C) n.3724G>C n.2325G>C c.2836G>C (p.Ala946Pro) n.326G>C c.2884G>C (p.Ala962Pro) c.2944G>C (p.Ala982Pro) c.2494G>C (p.Ala832Pro) c.796G>C (p.Ala266Pro) c.2845G>C (p.Ala949Pro) c.2566G>C (p.Ala856Pro) c.2730+3643G>C (n.2730+3643G>C) c.1648G>C (p.Ala550Pro) n.3199G>C | |
13 | g.51946364C>T | CA388032193 | ATP7B | c.*813G>A (n.*813G>A) c.*1724G>A (n.*1724G>A) c.2359G>A (p.Ala787Thr) c.2980G>A (p.Ala994Thr) c.2647G>A (p.Ala883Thr) c.2728G>A (p.Ala910Thr) c.2746G>A (p.Ala916Thr) n.1127G>A n.3343G>A c.1915G>A (p.Ala639Thr) c.1690G>A (p.Ala564Thr) c.2866-2073G>A (n.2866-2073G>A) n.200G>A c.941G>A c.*81G>A (n.*81G>A) n.3724G>A n.2325G>A c.2836G>A (p.Ala946Thr) n.326G>A c.2884G>A (p.Ala962Thr) c.2944G>A (p.Ala982Thr) c.2494G>A (p.Ala832Thr) c.796G>A (p.Ala266Thr) c.2845G>A (p.Ala949Thr) c.2566G>A (p.Ala856Thr) c.2730+3643G>A (n.2730+3643G>A) c.1648G>A (p.Ala550Thr) n.3199G>A | gnomAD v4 |
13 | g.51946365C>A | CA483894926 | ATP7B | c.*812G>T (n.*812G>T) c.*1723G>T (n.*1723G>T) c.2358G>T (p.Thr786=) c.2979G>T (p.Thr993=) c.2646G>T (p.Thr882=) c.2727G>T (p.Thr909=) c.2745G>T (p.Thr915=) n.1126G>T n.3342G>T c.1914G>T (p.Thr638=) c.1689G>T (p.Thr563=) c.2866-2074G>T (n.2866-2074G>T) n.199G>T c.940G>T c.*80G>T (n.*80G>T) n.3723G>T n.2324G>T c.2835G>T (p.Thr945=) n.325G>T c.2883G>T (p.Thr961=) c.2943G>T (p.Thr981=) c.2493G>T (p.Thr831=) c.795G>T (p.Thr265=) c.2844G>T (p.Thr948=) c.2565G>T (p.Thr855=) c.2730+3642G>T (n.2730+3642G>T) c.1647G>T (p.Thr549=) n.3198G>T | |
13 | g.51946365C= | CA2091566165 | ATP7B | c.*812G= (n.*812G=) c.*1723G= (n.*1723G=) c.2358G= (p.Thr786=) c.2979G= (p.Thr993=) c.2646G= (p.Thr882=) c.2727G= (p.Thr909=) c.2745G= (p.Thr915=) n.1126G= n.3342G= c.1914G= (p.Thr638=) c.1689G= (p.Thr563=) c.2866-2074G= (n.2866-2074G=) n.199G= c.940G= c.*80G= (n.*80G=) n.3723G= n.2324G= c.2835G= (p.Thr945=) n.325G= c.2883G= (p.Thr961=) c.2943G= (p.Thr981=) c.2493G= (p.Thr831=) c.795G= (p.Thr265=) c.2844G= (p.Thr948=) c.2565G= (p.Thr855=) c.2730+3642G= (n.2730+3642G=) c.1647G= (p.Thr549=) n.3198G= | |
13 | g.51946365C>G | CA6988848 | ATP7B | c.*812G>C (n.*812G>C) c.*1723G>C (n.*1723G>C) c.2358G>C (p.Thr786=) c.2979G>C (p.Thr993=) c.2646G>C (p.Thr882=) c.2727G>C (p.Thr909=) c.2745G>C (p.Thr915=) n.1126G>C n.3342G>C c.1914G>C (p.Thr638=) c.1689G>C (p.Thr563=) c.2866-2074G>C (n.2866-2074G>C) n.199G>C c.940G>C c.*80G>C (n.*80G>C) n.3723G>C n.2324G>C c.2835G>C (p.Thr945=) n.325G>C c.2883G>C (p.Thr961=) c.2943G>C (p.Thr981=) c.2493G>C (p.Thr831=) c.795G>C (p.Thr265=) c.2844G>C (p.Thr948=) c.2565G>C (p.Thr855=) c.2730+3642G>C (n.2730+3642G>C) c.1647G>C (p.Thr549=) n.3198G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51946365C>T | CA6988849 | ATP7B | c.*812G>A (n.*812G>A) c.*1723G>A (n.*1723G>A) c.2358G>A (p.Thr786=) c.2979G>A (p.Thr993=) c.2646G>A (p.Thr882=) c.2727G>A (p.Thr909=) c.2745G>A (p.Thr915=) n.1126G>A n.3342G>A c.1914G>A (p.Thr638=) c.1689G>A (p.Thr563=) c.2866-2074G>A (n.2866-2074G>A) n.199G>A c.940G>A c.*80G>A (n.*80G>A) n.3723G>A n.2324G>A c.2835G>A (p.Thr945=) n.325G>A c.2883G>A (p.Thr961=) c.2943G>A (p.Thr981=) c.2493G>A (p.Thr831=) c.795G>A (p.Thr265=) c.2844G>A (p.Thr948=) c.2565G>A (p.Thr855=) c.2730+3642G>A (n.2730+3642G>A) c.1647G>A (p.Thr549=) n.3198G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.51946366G>A | CA6988850 | ATP7B | c.*811C>T (n.*811C>T) c.*1722C>T (n.*1722C>T) c.2357C>T (p.Thr786Met) c.2978C>T (p.Thr993Met) c.2645C>T (p.Thr882Met) c.2726C>T (p.Thr909Met) c.2744C>T (p.Thr915Met) n.1125C>T n.3341C>T c.1913C>T (p.Thr638Met) c.1688C>T (p.Thr563Met) c.2866-2075C>T (n.2866-2075C>T) n.198C>T c.939C>T c.*79C>T (n.*79C>T) n.3722C>T n.2323C>T c.2834C>T (p.Thr945Met) n.324C>T c.2882C>T (p.Thr961Met) c.2942C>T (p.Thr981Met) c.2492C>T (p.Thr831Met) c.794C>T (p.Thr265Met) c.2843C>T (p.Thr948Met) c.2564C>T (p.Thr855Met) c.2730+3641C>T (n.2730+3641C>T) c.1646C>T (p.Thr549Met) n.3197C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946366G>C | CA388032196 | ATP7B | c.*811C>G (n.*811C>G) c.*1722C>G (n.*1722C>G) c.2357C>G (p.Thr786Arg) c.2978C>G (p.Thr993Arg) c.2645C>G (p.Thr882Arg) c.2726C>G (p.Thr909Arg) c.2744C>G (p.Thr915Arg) n.1125C>G n.3341C>G c.1913C>G (p.Thr638Arg) c.1688C>G (p.Thr563Arg) c.2866-2075C>G (n.2866-2075C>G) n.198C>G c.939C>G c.*79C>G (n.*79C>G) n.3722C>G n.2323C>G c.2834C>G (p.Thr945Arg) n.324C>G c.2882C>G (p.Thr961Arg) c.2942C>G (p.Thr981Arg) c.2492C>G (p.Thr831Arg) c.794C>G (p.Thr265Arg) c.2843C>G (p.Thr948Arg) c.2564C>G (p.Thr855Arg) c.2730+3641C>G (n.2730+3641C>G) c.1646C>G (p.Thr549Arg) n.3197C>G | |
13 | g.51946366G= | CA2091566166 | ATP7B | c.*811C= (n.*811C=) c.*1722C= (n.*1722C=) c.2357C= (p.Thr786=) c.2978C= (p.Thr993=) c.2645C= (p.Thr882=) c.2726C= (p.Thr909=) c.2744C= (p.Thr915=) n.1125C= n.3341C= c.1913C= (p.Thr638=) c.1688C= (p.Thr563=) c.2866-2075C= (n.2866-2075C=) n.198C= c.939C= c.*79C= (n.*79C=) n.3722C= n.2323C= c.2834C= (p.Thr945=) n.324C= c.2882C= (p.Thr961=) c.2942C= (p.Thr981=) c.2492C= (p.Thr831=) c.794C= (p.Thr265=) c.2843C= (p.Thr948=) c.2564C= (p.Thr855=) c.2730+3641C= (n.2730+3641C=) c.1646C= (p.Thr549=) n.3197C= | |
13 | g.51946366G>T | CA388032200 | ATP7B | c.*811C>A (n.*811C>A) c.*1722C>A (n.*1722C>A) c.2357C>A (p.Thr786Lys) c.2978C>A (p.Thr993Lys) c.2645C>A (p.Thr882Lys) c.2726C>A (p.Thr909Lys) c.2744C>A (p.Thr915Lys) n.1125C>A n.3341C>A c.1913C>A (p.Thr638Lys) c.1688C>A (p.Thr563Lys) c.2866-2075C>A (n.2866-2075C>A) n.198C>A c.939C>A c.*79C>A (n.*79C>A) n.3722C>A n.2323C>A c.2834C>A (p.Thr945Lys) n.324C>A c.2882C>A (p.Thr961Lys) c.2942C>A (p.Thr981Lys) c.2492C>A (p.Thr831Lys) c.794C>A (p.Thr265Lys) c.2843C>A (p.Thr948Lys) c.2564C>A (p.Thr855Lys) c.2730+3641C>A (n.2730+3641C>A) c.1646C>A (p.Thr549Lys) n.3197C>A | gnomAD v4 |
13 | g.51946367T>A | CA388032201 | ATP7B | c.*810A>T (n.*810A>T) c.*1721A>T (n.*1721A>T) c.2356A>T (p.Thr786Ser) c.2977A>T (p.Thr993Ser) c.2644A>T (p.Thr882Ser) c.2725A>T (p.Thr909Ser) c.2743A>T (p.Thr915Ser) n.1124A>T n.3340A>T c.1912A>T (p.Thr638Ser) c.1687A>T (p.Thr563Ser) c.2866-2076A>T (n.2866-2076A>T) n.197A>T c.938A>T c.*78A>T (n.*78A>T) n.3721A>T n.2322A>T c.2833A>T (p.Thr945Ser) n.323A>T c.2881A>T (p.Thr961Ser) c.2941A>T (p.Thr981Ser) c.2491A>T (p.Thr831Ser) c.793A>T (p.Thr265Ser) c.2842A>T (p.Thr948Ser) c.2563A>T (p.Thr855Ser) c.2730+3640A>T (n.2730+3640A>T) c.1645A>T (p.Thr549Ser) n.3196A>T | |
13 | g.51946367T>C | CA388032204 | ATP7B | c.*810A>G (n.*810A>G) c.*1721A>G (n.*1721A>G) c.2356A>G (p.Thr786Ala) c.2977A>G (p.Thr993Ala) c.2644A>G (p.Thr882Ala) c.2725A>G (p.Thr909Ala) c.2743A>G (p.Thr915Ala) n.1124A>G n.3340A>G c.1912A>G (p.Thr638Ala) c.1687A>G (p.Thr563Ala) c.2866-2076A>G (n.2866-2076A>G) n.197A>G c.938A>G c.*78A>G (n.*78A>G) n.3721A>G n.2322A>G c.2833A>G (p.Thr945Ala) n.323A>G c.2881A>G (p.Thr961Ala) c.2941A>G (p.Thr981Ala) c.2491A>G (p.Thr831Ala) c.793A>G (p.Thr265Ala) c.2842A>G (p.Thr948Ala) c.2563A>G (p.Thr855Ala) c.2730+3640A>G (n.2730+3640A>G) c.1645A>G (p.Thr549Ala) n.3196A>G | |
13 | g.51946367T>G | CA388032206 | ATP7B | c.*810A>C (n.*810A>C) c.*1721A>C (n.*1721A>C) c.2356A>C (p.Thr786Pro) c.2977A>C (p.Thr993Pro) c.2644A>C (p.Thr882Pro) c.2725A>C (p.Thr909Pro) c.2743A>C (p.Thr915Pro) n.1124A>C n.3340A>C c.1912A>C (p.Thr638Pro) c.1687A>C (p.Thr563Pro) c.2866-2076A>C (n.2866-2076A>C) n.197A>C c.938A>C c.*78A>C (n.*78A>C) n.3721A>C n.2322A>C c.2833A>C (p.Thr945Pro) n.323A>C c.2881A>C (p.Thr961Pro) c.2941A>C (p.Thr981Pro) c.2491A>C (p.Thr831Pro) c.793A>C (p.Thr265Pro) c.2842A>C (p.Thr948Pro) c.2563A>C (p.Thr855Pro) c.2730+3640A>C (n.2730+3640A>C) c.1645A>C (p.Thr549Pro) n.3196A>C | |
13 | g.51946367dup | CA2695218766 | ATP7B | c.*810dup (n.*810dup) c.*1721dup (n.*1721dup) c.2356dup (p.Thr786AsnfsTer?) c.2977dup (p.Thr993AsnfsTer?) c.2644dup (p.Thr882AsnfsTer?) c.2725dup (p.Thr909AsnfsTer?) c.2743dup (p.Thr915AsnfsTer?) n.1124dup n.3340dup c.1912dup (p.Thr638AsnfsTer?) c.1687dup (p.Thr563AsnfsTer?) c.2866-2076dup (n.2866-2076dup) n.197dup c.938dup c.*78dup (n.*78dup) n.3721dup n.2322dup c.2833dup (p.Thr945AsnfsTer?) n.323dup c.2881dup (p.Thr961AsnfsTer?) c.2941dup (p.Thr981AsnfsTer?) c.2491dup (p.Thr831AsnfsTer?) c.793dup (p.Thr265AsnfsTer?) c.2842dup (p.Thr948AsnfsTer?) c.2563dup (p.Thr855AsnfsTer?) c.2730+3640dup (n.2730+3640dup) c.1645dup (p.Thr549AsnfsTer?) n.3196dup | |
13 | g.51946368G>A | CA6988852 | ATP7B | c.*809C>T (n.*809C>T) c.*1720C>T (n.*1720C>T) c.2355C>T (p.Pro785=) c.2976C>T (p.Pro992=) c.2643C>T (p.Pro881=) c.2724C>T (p.Pro908=) c.2742C>T (p.Pro914=) n.1123C>T n.3339C>T c.1911C>T (p.Pro637=) c.1686C>T (p.Pro562=) c.2866-2077C>T (n.2866-2077C>T) n.196C>T c.937C>T c.*77C>T (n.*77C>T) n.3720C>T n.2321C>T c.2832C>T (p.Pro944=) n.322C>T c.2880C>T (p.Pro960=) c.2940C>T (p.Pro980=) c.2490C>T (p.Pro830=) c.792C>T (p.Pro264=) c.2841C>T (p.Pro947=) c.2562C>T (p.Pro854=) c.2730+3639C>T (n.2730+3639C>T) c.1644C>T (p.Pro548=) n.3195C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51946368G>C | CA483894930 | ATP7B | c.*809C>G (n.*809C>G) c.*1720C>G (n.*1720C>G) c.2355C>G (p.Pro785=) c.2976C>G (p.Pro992=) c.2643C>G (p.Pro881=) c.2724C>G (p.Pro908=) c.2742C>G (p.Pro914=) n.1123C>G n.3339C>G c.1911C>G (p.Pro637=) c.1686C>G (p.Pro562=) c.2866-2077C>G (n.2866-2077C>G) n.196C>G c.937C>G c.*77C>G (n.*77C>G) n.3720C>G n.2321C>G c.2832C>G (p.Pro944=) n.322C>G c.2880C>G (p.Pro960=) c.2940C>G (p.Pro980=) c.2490C>G (p.Pro830=) c.792C>G (p.Pro264=) c.2841C>G (p.Pro947=) c.2562C>G (p.Pro854=) c.2730+3639C>G (n.2730+3639C>G) c.1644C>G (p.Pro548=) n.3195C>G | ClinVar |
13 | g.51946368G= | CA2091566167 | ATP7B | c.*809C= (n.*809C=) c.*1720C= (n.*1720C=) c.2355C= (p.Pro785=) c.2976C= (p.Pro992=) c.2643C= (p.Pro881=) c.2724C= (p.Pro908=) c.2742C= (p.Pro914=) n.1123C= n.3339C= c.1911C= (p.Pro637=) c.1686C= (p.Pro562=) c.2866-2077C= (n.2866-2077C=) n.196C= c.937C= c.*77C= (n.*77C=) n.3720C= n.2321C= c.2832C= (p.Pro944=) n.322C= c.2880C= (p.Pro960=) c.2940C= (p.Pro980=) c.2490C= (p.Pro830=) c.792C= (p.Pro264=) c.2841C= (p.Pro947=) c.2562C= (p.Pro854=) c.2730+3639C= (n.2730+3639C=) c.1644C= (p.Pro548=) n.3195C= | |
13 | g.51946368G>T | CA6988851 | ATP7B | c.*809C>A (n.*809C>A) c.*1720C>A (n.*1720C>A) c.2355C>A (p.Pro785=) c.2976C>A (p.Pro992=) c.2643C>A (p.Pro881=) c.2724C>A (p.Pro908=) c.2742C>A (p.Pro914=) n.1123C>A n.3339C>A c.1911C>A (p.Pro637=) c.1686C>A (p.Pro562=) c.2866-2077C>A (n.2866-2077C>A) n.196C>A c.937C>A c.*77C>A (n.*77C>A) n.3720C>A n.2321C>A c.2832C>A (p.Pro944=) n.322C>A c.2880C>A (p.Pro960=) c.2940C>A (p.Pro980=) c.2490C>A (p.Pro830=) c.792C>A (p.Pro264=) c.2841C>A (p.Pro947=) c.2562C>A (p.Pro854=) c.2730+3639C>A (n.2730+3639C>A) c.1644C>A (p.Pro548=) n.3195C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946370del | CA2695199759 | ATP7B | c.*809del (n.*809del) c.*1720del (n.*1720del) c.2355del (p.Thr786ArgfsTer29) c.2976del (p.Thr993ArgfsTer29) c.2643del (p.Thr882ArgfsTer29) c.2724del (p.Thr909ArgfsTer29) c.2742del (p.Thr915ArgfsTer29) n.1123del n.3339del c.1911del (p.Thr638ArgfsTer29) c.1686del (p.Thr563ArgfsTer29) c.2866-2077del (n.2866-2077del) n.196del c.937del c.*77del (n.*77del) n.3720del n.2321del c.2832del (p.Thr945ArgfsTer29) n.322del c.2880del (p.Thr961ArgfsTer29) c.2940del (p.Thr981ArgfsTer29) c.2490del (p.Thr831ArgfsTer29) c.792del (p.Thr265ArgfsTer29) c.792del (p.Thr265ArgfsTer?) c.2841del (p.Thr948ArgfsTer29) c.2976del (p.Thr993ArgfsTer?) c.2562del (p.Thr855ArgfsTer29) c.2730+3639del (n.2730+3639del) c.1644del (p.Thr549ArgfsTer29) n.3195del | ClinVar |
13 | g.51946369G>A | CA274013 | ATP7B | c.*808C>T (n.*808C>T) c.*1719C>T (n.*1719C>T) c.2354C>T (p.Pro785Leu) c.2975C>T (p.Pro992Leu) c.2642C>T (p.Pro881Leu) c.2723C>T (p.Pro908Leu) c.2741C>T (p.Pro914Leu) n.1122C>T n.3338C>T c.1910C>T (p.Pro637Leu) c.1685C>T (p.Pro562Leu) c.2866-2078C>T (n.2866-2078C>T) n.195C>T c.936C>T c.*76C>T (n.*76C>T) n.3719C>T n.2320C>T c.2831C>T (p.Pro944Leu) n.321C>T c.2879C>T (p.Pro960Leu) c.2939C>T (p.Pro980Leu) c.2489C>T (p.Pro830Leu) c.791C>T (p.Pro264Leu) c.2840C>T (p.Pro947Leu) c.2561C>T (p.Pro854Leu) c.2730+3638C>T (n.2730+3638C>T) c.1643C>T (p.Pro548Leu) n.3194C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946369G>C | CA388032214 | ATP7B | c.*808C>G (n.*808C>G) c.*1719C>G (n.*1719C>G) c.2354C>G (p.Pro785Arg) c.2975C>G (p.Pro992Arg) c.2642C>G (p.Pro881Arg) c.2723C>G (p.Pro908Arg) c.2741C>G (p.Pro914Arg) n.1122C>G n.3338C>G c.1910C>G (p.Pro637Arg) c.1685C>G (p.Pro562Arg) c.2866-2078C>G (n.2866-2078C>G) n.195C>G c.936C>G c.*76C>G (n.*76C>G) n.3719C>G n.2320C>G c.2831C>G (p.Pro944Arg) n.321C>G c.2879C>G (p.Pro960Arg) c.2939C>G (p.Pro980Arg) c.2489C>G (p.Pro830Arg) c.791C>G (p.Pro264Arg) c.2840C>G (p.Pro947Arg) c.2561C>G (p.Pro854Arg) c.2730+3638C>G (n.2730+3638C>G) c.1643C>G (p.Pro548Arg) n.3194C>G | |
13 | g.51946369G= | CA2091566168 | ATP7B | c.*808C= (n.*808C=) c.*1719C= (n.*1719C=) c.2354C= (p.Pro785=) c.2975C= (p.Pro992=) c.2642C= (p.Pro881=) c.2723C= (p.Pro908=) c.2741C= (p.Pro914=) n.1122C= n.3338C= c.1910C= (p.Pro637=) c.1685C= (p.Pro562=) c.2866-2078C= (n.2866-2078C=) n.195C= c.936C= c.*76C= (n.*76C=) n.3719C= n.2320C= c.2831C= (p.Pro944=) n.321C= c.2879C= (p.Pro960=) c.2939C= (p.Pro980=) c.2489C= (p.Pro830=) c.791C= (p.Pro264=) c.2840C= (p.Pro947=) c.2561C= (p.Pro854=) c.2730+3638C= (n.2730+3638C=) c.1643C= (p.Pro548=) n.3194C= | |
13 | g.51946369G>T | CA388032212 | ATP7B | c.*808C>A (n.*808C>A) c.*1719C>A (n.*1719C>A) c.2354C>A (p.Pro785His) c.2975C>A (p.Pro992His) c.2642C>A (p.Pro881His) c.2723C>A (p.Pro908His) c.2741C>A (p.Pro914His) n.1122C>A n.3338C>A c.1910C>A (p.Pro637His) c.1685C>A (p.Pro562His) c.2866-2078C>A (n.2866-2078C>A) n.195C>A c.936C>A c.*76C>A (n.*76C>A) n.3719C>A n.2320C>A c.2831C>A (p.Pro944His) n.321C>A c.2879C>A (p.Pro960His) c.2939C>A (p.Pro980His) c.2489C>A (p.Pro830His) c.791C>A (p.Pro264His) c.2840C>A (p.Pro947His) c.2561C>A (p.Pro854His) c.2730+3638C>A (n.2730+3638C>A) c.1643C>A (p.Pro548His) n.3194C>A | ClinVar dbSNP gnomAD v4 |
13 | g.51946370G>A | CA388032221 | ATP7B | c.*807C>T (n.*807C>T) c.*1718C>T (n.*1718C>T) c.2353C>T (p.Pro785Ser) c.2974C>T (p.Pro992Ser) c.2641C>T (p.Pro881Ser) c.2722C>T (p.Pro908Ser) c.2740C>T (p.Pro914Ser) n.1121C>T n.3337C>T c.1909C>T (p.Pro637Ser) c.1684C>T (p.Pro562Ser) c.2866-2079C>T (n.2866-2079C>T) n.194C>T c.935C>T c.*75C>T (n.*75C>T) n.3718C>T n.2319C>T c.2830C>T (p.Pro944Ser) n.320C>T c.2878C>T (p.Pro960Ser) c.2938C>T (p.Pro980Ser) c.2488C>T (p.Pro830Ser) c.790C>T (p.Pro264Ser) c.2839C>T (p.Pro947Ser) c.2560C>T (p.Pro854Ser) c.2730+3637C>T (n.2730+3637C>T) c.1642C>T (p.Pro548Ser) n.3193C>T | |
13 | g.51946370G>C | CA388032223 | ATP7B | c.*807C>G (n.*807C>G) c.*1718C>G (n.*1718C>G) c.2353C>G (p.Pro785Ala) c.2974C>G (p.Pro992Ala) c.2641C>G (p.Pro881Ala) c.2722C>G (p.Pro908Ala) c.2740C>G (p.Pro914Ala) n.1121C>G n.3337C>G c.1909C>G (p.Pro637Ala) c.1684C>G (p.Pro562Ala) c.2866-2079C>G (n.2866-2079C>G) n.194C>G c.935C>G c.*75C>G (n.*75C>G) n.3718C>G n.2319C>G c.2830C>G (p.Pro944Ala) n.320C>G c.2878C>G (p.Pro960Ala) c.2938C>G (p.Pro980Ala) c.2488C>G (p.Pro830Ala) c.790C>G (p.Pro264Ala) c.2839C>G (p.Pro947Ala) c.2560C>G (p.Pro854Ala) c.2730+3637C>G (n.2730+3637C>G) c.1642C>G (p.Pro548Ala) n.3193C>G | |
13 | g.51946370G>T | CA388032225 | ATP7B | c.*807C>A (n.*807C>A) c.*1718C>A (n.*1718C>A) c.2353C>A (p.Pro785Thr) c.2974C>A (p.Pro992Thr) c.2641C>A (p.Pro881Thr) c.2722C>A (p.Pro908Thr) c.2740C>A (p.Pro914Thr) n.1121C>A n.3337C>A c.1909C>A (p.Pro637Thr) c.1684C>A (p.Pro562Thr) c.2866-2079C>A (n.2866-2079C>A) n.194C>A c.935C>A c.*75C>A (n.*75C>A) n.3718C>A n.2319C>A c.2830C>A (p.Pro944Thr) n.320C>A c.2878C>A (p.Pro960Thr) c.2938C>A (p.Pro980Thr) c.2488C>A (p.Pro830Thr) c.790C>A (p.Pro264Thr) c.2839C>A (p.Pro947Thr) c.2560C>A (p.Pro854Thr) c.2730+3637C>A (n.2730+3637C>A) c.1642C>A (p.Pro548Thr) n.3193C>A | |
13 | g.51946371_51946372del | CA2575420478 | ATP7B | c.*806_*807del (n.*806_*807del) c.*1717_*1718del (n.*1717_*1718del) c.2352_2353del (p.Pro785HisfsTer?) c.2973_2974del (p.Pro992HisfsTer?) c.2640_2641del (p.Pro881HisfsTer?) c.2721_2722del (p.Pro908HisfsTer?) c.2739_2740del (p.Pro914HisfsTer?) n.1120_1121del n.3336_3337del c.1908_1909del (p.Pro637HisfsTer?) c.1683_1684del (p.Pro562HisfsTer?) c.2866-2080_2866-2079del (n.2866-2080_2866-2079del) n.193_194del c.934_935del c.*74_*75del (n.*74_*75del) n.3717_3718del n.2318_2319del c.2829_2830del (p.Pro944HisfsTer?) n.319_320del c.2877_2878del (p.Pro960HisfsTer?) c.2937_2938del (p.Pro980HisfsTer?) c.2487_2488del (p.Pro830HisfsTer?) c.789_790del (p.Pro264HisfsTer?) c.2838_2839del (p.Pro947HisfsTer?) c.2559_2560del (p.Pro854HisfsTer?) c.2730+3636_2730+3637del (n.2730+3636_2730+3637del) c.1641_1642del (p.Pro548HisfsTer?) n.3192_3193del | |
13 | g.51946371C>A | CA483894932 | ATP7B | c.*806G>T (n.*806G>T) c.*1717G>T (n.*1717G>T) c.2352G>T (p.Thr784=) c.2973G>T (p.Thr991=) c.2640G>T (p.Thr880=) c.2721G>T (p.Thr907=) c.2739G>T (p.Thr913=) n.1120G>T n.3336G>T c.1908G>T (p.Thr636=) c.1683G>T (p.Thr561=) c.2866-2080G>T (n.2866-2080G>T) n.193G>T c.934G>T c.*74G>T (n.*74G>T) n.3717G>T n.2318G>T c.2829G>T (p.Thr943=) n.319G>T c.2877G>T (p.Thr959=) c.2937G>T (p.Thr979=) c.2487G>T (p.Thr829=) c.789G>T (p.Thr263=) c.2838G>T (p.Thr946=) c.2559G>T (p.Thr853=) c.2730+3636G>T (n.2730+3636G>T) c.1641G>T (p.Thr547=) n.3192G>T | ClinVar dbSNP gnomAD v4 |
13 | g.51946371C= | CA2018046967 | ATP7B | c.*806G= (n.*806G=) c.*1717G= (n.*1717G=) c.2352G= (p.Thr784=) c.2973G= (p.Thr991=) c.2640G= (p.Thr880=) c.2721G= (p.Thr907=) c.2739G= (p.Thr913=) n.1120G= n.3336G= c.1908G= (p.Thr636=) c.1683G= (p.Thr561=) c.2866-2080G= (n.2866-2080G=) n.193G= c.934G= c.*74G= (n.*74G=) n.3717G= n.2318G= c.2829G= (p.Thr943=) n.319G= c.2877G= (p.Thr959=) c.2937G= (p.Thr979=) c.2487G= (p.Thr829=) c.789G= (p.Thr263=) c.2838G= (p.Thr946=) c.2559G= (p.Thr853=) c.2730+3636G= (n.2730+3636G=) c.1641G= (p.Thr547=) n.3192G= | |
13 | g.51946371C>G | CA483894933 | ATP7B | c.*806G>C (n.*806G>C) c.*1717G>C (n.*1717G>C) c.2352G>C (p.Thr784=) c.2973G>C (p.Thr991=) c.2640G>C (p.Thr880=) c.2721G>C (p.Thr907=) c.2739G>C (p.Thr913=) n.1120G>C n.3336G>C c.1908G>C (p.Thr636=) c.1683G>C (p.Thr561=) c.2866-2080G>C (n.2866-2080G>C) n.193G>C c.934G>C c.*74G>C (n.*74G>C) n.3717G>C n.2318G>C c.2829G>C (p.Thr943=) n.319G>C c.2877G>C (p.Thr959=) c.2937G>C (p.Thr979=) c.2487G>C (p.Thr829=) c.789G>C (p.Thr263=) c.2838G>C (p.Thr946=) c.2559G>C (p.Thr853=) c.2730+3636G>C (n.2730+3636G>C) c.1641G>C (p.Thr547=) n.3192G>C | |
13 | g.51946371C>T | CA145679 | ATP7B | c.*806G>A (n.*806G>A) c.*1717G>A (n.*1717G>A) c.2352G>A (p.Thr784=) c.2973G>A (p.Thr991=) c.2640G>A (p.Thr880=) c.2721G>A (p.Thr907=) c.2739G>A (p.Thr913=) n.1120G>A n.3336G>A c.1908G>A (p.Thr636=) c.1683G>A (p.Thr561=) c.2866-2080G>A (n.2866-2080G>A) n.193G>A c.934G>A c.*74G>A (n.*74G>A) n.3717G>A n.2318G>A c.2829G>A (p.Thr943=) n.319G>A c.2877G>A (p.Thr959=) c.2937G>A (p.Thr979=) c.2487G>A (p.Thr829=) c.789G>A (p.Thr263=) c.2838G>A (p.Thr946=) c.2559G>A (p.Thr853=) c.2730+3636G>A (n.2730+3636G>A) c.1641G>A (p.Thr547=) n.3192G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946372G>A | CA090896 | ATP7B | c.*805C>T (n.*805C>T) c.*1716C>T (n.*1716C>T) c.2351C>T (p.Thr784Met) c.2972C>T (p.Thr991Met) c.2639C>T (p.Thr880Met) c.2720C>T (p.Thr907Met) c.2738C>T (p.Thr913Met) n.1119C>T n.3335C>T c.1907C>T (p.Thr636Met) c.1682C>T (p.Thr561Met) c.2866-2081C>T (n.2866-2081C>T) n.192C>T c.933C>T c.*73C>T (n.*73C>T) n.3716C>T n.2317C>T c.2828C>T (p.Thr943Met) n.318C>T c.2876C>T (p.Thr959Met) c.2936C>T (p.Thr979Met) c.2486C>T (p.Thr829Met) c.788C>T (p.Thr263Met) c.2837C>T (p.Thr946Met) c.2558C>T (p.Thr853Met) c.2730+3635C>T (n.2730+3635C>T) c.1640C>T (p.Thr547Met) n.3191C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946372G>C | CA388032227 | ATP7B | c.*805C>G (n.*805C>G) c.*1716C>G (n.*1716C>G) c.2351C>G (p.Thr784Arg) c.2972C>G (p.Thr991Arg) c.2639C>G (p.Thr880Arg) c.2720C>G (p.Thr907Arg) c.2738C>G (p.Thr913Arg) n.1119C>G n.3335C>G c.1907C>G (p.Thr636Arg) c.1682C>G (p.Thr561Arg) c.2866-2081C>G (n.2866-2081C>G) n.192C>G c.933C>G c.*73C>G (n.*73C>G) n.3716C>G n.2317C>G c.2828C>G (p.Thr943Arg) n.318C>G c.2876C>G (p.Thr959Arg) c.2936C>G (p.Thr979Arg) c.2486C>G (p.Thr829Arg) c.788C>G (p.Thr263Arg) c.2837C>G (p.Thr946Arg) c.2558C>G (p.Thr853Arg) c.2730+3635C>G (n.2730+3635C>G) c.1640C>G (p.Thr547Arg) n.3191C>G | |
13 | g.51946372G= | CA2091566169 | ATP7B | c.*805C= (n.*805C=) c.*1716C= (n.*1716C=) c.2351C= (p.Thr784=) c.2972C= (p.Thr991=) c.2639C= (p.Thr880=) c.2720C= (p.Thr907=) c.2738C= (p.Thr913=) n.1119C= n.3335C= c.1907C= (p.Thr636=) c.1682C= (p.Thr561=) c.2866-2081C= (n.2866-2081C=) n.192C= c.933C= c.*73C= (n.*73C=) n.3716C= n.2317C= c.2828C= (p.Thr943=) n.318C= c.2876C= (p.Thr959=) c.2936C= (p.Thr979=) c.2486C= (p.Thr829=) c.788C= (p.Thr263=) c.2837C= (p.Thr946=) c.2558C= (p.Thr853=) c.2730+3635C= (n.2730+3635C=) c.1640C= (p.Thr547=) n.3191C= | |
13 | g.51946372G>T | CA388032228 | ATP7B | c.*805C>A (n.*805C>A) c.*1716C>A (n.*1716C>A) c.2351C>A (p.Thr784Lys) c.2972C>A (p.Thr991Lys) c.2639C>A (p.Thr880Lys) c.2720C>A (p.Thr907Lys) c.2738C>A (p.Thr913Lys) n.1119C>A n.3335C>A c.1907C>A (p.Thr636Lys) c.1682C>A (p.Thr561Lys) c.2866-2081C>A (n.2866-2081C>A) n.192C>A c.933C>A c.*73C>A (n.*73C>A) n.3716C>A n.2317C>A c.2828C>A (p.Thr943Lys) n.318C>A c.2876C>A (p.Thr959Lys) c.2936C>A (p.Thr979Lys) c.2486C>A (p.Thr829Lys) c.788C>A (p.Thr263Lys) c.2837C>A (p.Thr946Lys) c.2558C>A (p.Thr853Lys) c.2730+3635C>A (n.2730+3635C>A) c.1640C>A (p.Thr547Lys) n.3191C>A | |
13 | g.51946373T>A | CA388032230 | ATP7B | c.*804A>T (n.*804A>T) c.*1715A>T (n.*1715A>T) c.2350A>T (p.Thr784Ser) c.2971A>T (p.Thr991Ser) c.2638A>T (p.Thr880Ser) c.2719A>T (p.Thr907Ser) c.2737A>T (p.Thr913Ser) n.1118A>T n.3334A>T c.1906A>T (p.Thr636Ser) c.1681A>T (p.Thr561Ser) c.2866-2082A>T (n.2866-2082A>T) n.191A>T c.932A>T c.*72A>T (n.*72A>T) n.3715A>T n.2316A>T c.2827A>T (p.Thr943Ser) n.317A>T c.2875A>T (p.Thr959Ser) c.2935A>T (p.Thr979Ser) c.2485A>T (p.Thr829Ser) c.787A>T (p.Thr263Ser) c.2836A>T (p.Thr946Ser) c.2557A>T (p.Thr853Ser) c.2730+3634A>T (n.2730+3634A>T) c.1639A>T (p.Thr547Ser) n.3190A>T | |
13 | g.51946373T>C | CA388032231 | ATP7B | c.*804A>G (n.*804A>G) c.*1715A>G (n.*1715A>G) c.2350A>G (p.Thr784Ala) c.2971A>G (p.Thr991Ala) c.2638A>G (p.Thr880Ala) c.2719A>G (p.Thr907Ala) c.2737A>G (p.Thr913Ala) n.1118A>G n.3334A>G c.1906A>G (p.Thr636Ala) c.1681A>G (p.Thr561Ala) c.2866-2082A>G (n.2866-2082A>G) n.191A>G c.932A>G c.*72A>G (n.*72A>G) n.3715A>G n.2316A>G c.2827A>G (p.Thr943Ala) n.317A>G c.2875A>G (p.Thr959Ala) c.2935A>G (p.Thr979Ala) c.2485A>G (p.Thr829Ala) c.787A>G (p.Thr263Ala) c.2836A>G (p.Thr946Ala) c.2557A>G (p.Thr853Ala) c.2730+3634A>G (n.2730+3634A>G) c.1639A>G (p.Thr547Ala) n.3190A>G | ClinVar dbSNP |
13 | g.51946373T>G | CA388032232 | ATP7B | c.*804A>C (n.*804A>C) c.*1715A>C (n.*1715A>C) c.2350A>C (p.Thr784Pro) c.2971A>C (p.Thr991Pro) c.2638A>C (p.Thr880Pro) c.2719A>C (p.Thr907Pro) c.2737A>C (p.Thr913Pro) n.1118A>C n.3334A>C c.1906A>C (p.Thr636Pro) c.1681A>C (p.Thr561Pro) c.2866-2082A>C (n.2866-2082A>C) n.191A>C c.932A>C c.*72A>C (n.*72A>C) n.3715A>C n.2316A>C c.2827A>C (p.Thr943Pro) n.317A>C c.2875A>C (p.Thr959Pro) c.2935A>C (p.Thr979Pro) c.2485A>C (p.Thr829Pro) c.787A>C (p.Thr263Pro) c.2836A>C (p.Thr946Pro) c.2557A>C (p.Thr853Pro) c.2730+3634A>C (n.2730+3634A>C) c.1639A>C (p.Thr547Pro) n.3190A>C | |
13 | g.51946373T= | CA2091566170 | ATP7B | c.*804A= (n.*804A=) c.*1715A= (n.*1715A=) c.2350A= (p.Thr784=) c.2971A= (p.Thr991=) c.2638A= (p.Thr880=) c.2719A= (p.Thr907=) c.2737A= (p.Thr913=) n.1118A= n.3334A= c.1906A= (p.Thr636=) c.1681A= (p.Thr561=) c.2866-2082A= (n.2866-2082A=) n.191A= c.932A= c.*72A= (n.*72A=) n.3715A= n.2316A= c.2827A= (p.Thr943=) n.317A= c.2875A= (p.Thr959=) c.2935A= (p.Thr979=) c.2485A= (p.Thr829=) c.787A= (p.Thr263=) c.2836A= (p.Thr946=) c.2557A= (p.Thr853=) c.2730+3634A= (n.2730+3634A=) c.1639A= (p.Thr547=) n.3190A= | |
13 | g.51946374G>A | CA483894935 | ATP7B | c.*803C>T (n.*803C>T) c.*1714C>T (n.*1714C>T) c.2349C>T (p.Ala783=) c.2970C>T (p.Ala990=) c.2637C>T (p.Ala879=) c.2718C>T (p.Ala906=) c.2736C>T (p.Ala912=) n.1117C>T n.3333C>T c.1905C>T (p.Ala635=) c.1680C>T (p.Ala560=) c.2866-2083C>T (n.2866-2083C>T) n.190C>T c.931C>T c.*71C>T (n.*71C>T) n.3714C>T n.2315C>T c.2826C>T (p.Ala942=) n.316C>T c.2874C>T (p.Ala958=) c.2934C>T (p.Ala978=) c.2484C>T (p.Ala828=) c.786C>T (p.Ala262=) c.2835C>T (p.Ala945=) c.2556C>T (p.Ala852=) c.2730+3633C>T (n.2730+3633C>T) c.1638C>T (p.Ala546=) n.3189C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
13 | g.51946374G>C | CA483894937 | ATP7B | c.*803C>G (n.*803C>G) c.*1714C>G (n.*1714C>G) c.2349C>G (p.Ala783=) c.2970C>G (p.Ala990=) c.2637C>G (p.Ala879=) c.2718C>G (p.Ala906=) c.2736C>G (p.Ala912=) n.1117C>G n.3333C>G c.1905C>G (p.Ala635=) c.1680C>G (p.Ala560=) c.2866-2083C>G (n.2866-2083C>G) n.190C>G c.931C>G c.*71C>G (n.*71C>G) n.3714C>G n.2315C>G c.2826C>G (p.Ala942=) n.316C>G c.2874C>G (p.Ala958=) c.2934C>G (p.Ala978=) c.2484C>G (p.Ala828=) c.786C>G (p.Ala262=) c.2835C>G (p.Ala945=) c.2556C>G (p.Ala852=) c.2730+3633C>G (n.2730+3633C>G) c.1638C>G (p.Ala546=) n.3189C>G | |
13 | g.51946374G= | CA2091566171 | ATP7B | c.*803C= (n.*803C=) c.*1714C= (n.*1714C=) c.2349C= (p.Ala783=) c.2970C= (p.Ala990=) c.2637C= (p.Ala879=) c.2718C= (p.Ala906=) c.2736C= (p.Ala912=) n.1117C= n.3333C= c.1905C= (p.Ala635=) c.1680C= (p.Ala560=) c.2866-2083C= (n.2866-2083C=) n.190C= c.931C= c.*71C= (n.*71C=) n.3714C= n.2315C= c.2826C= (p.Ala942=) n.316C= c.2874C= (p.Ala958=) c.2934C= (p.Ala978=) c.2484C= (p.Ala828=) c.786C= (p.Ala262=) c.2835C= (p.Ala945=) c.2556C= (p.Ala852=) c.2730+3633C= (n.2730+3633C=) c.1638C= (p.Ala546=) n.3189C= | |
13 | g.51946374G>T | CA483894939 | ATP7B | c.*803C>A (n.*803C>A) c.*1714C>A (n.*1714C>A) c.2349C>A (p.Ala783=) c.2970C>A (p.Ala990=) c.2637C>A (p.Ala879=) c.2718C>A (p.Ala906=) c.2736C>A (p.Ala912=) n.1117C>A n.3333C>A c.1905C>A (p.Ala635=) c.1680C>A (p.Ala560=) c.2866-2083C>A (n.2866-2083C>A) n.190C>A c.931C>A c.*71C>A (n.*71C>A) n.3714C>A n.2315C>A c.2826C>A (p.Ala942=) n.316C>A c.2874C>A (p.Ala958=) c.2934C>A (p.Ala978=) c.2484C>A (p.Ala828=) c.786C>A (p.Ala262=) c.2835C>A (p.Ala945=) c.2556C>A (p.Ala852=) c.2730+3633C>A (n.2730+3633C>A) c.1638C>A (p.Ala546=) n.3189C>A | ClinVar |
13 | g.51946375dup | CA2839878034 | ATP7B | c.*803dup (n.*803dup) c.*1714dup (n.*1714dup) c.2349dup (p.Thr784HisfsTer?) c.2970dup (p.Thr991HisfsTer?) c.2637dup (p.Thr880HisfsTer?) c.2718dup (p.Thr907HisfsTer?) c.2736dup (p.Thr913HisfsTer?) n.1117dup n.3333dup c.1905dup (p.Thr636HisfsTer?) c.1680dup (p.Thr561HisfsTer?) c.2866-2083dup (n.2866-2083dup) n.190dup c.931dup c.*71dup (n.*71dup) n.3714dup n.2315dup c.2826dup (p.Thr943HisfsTer?) n.316dup c.2874dup (p.Thr959HisfsTer?) c.2934dup (p.Thr979HisfsTer?) c.2484dup (p.Thr829HisfsTer?) c.786dup (p.Thr263HisfsTer?) c.2835dup (p.Thr946HisfsTer?) c.2556dup (p.Thr853HisfsTer?) c.2730+3633dup (n.2730+3633dup) c.1638dup (p.Thr547HisfsTer?) n.3189dup | |
13 | g.51946375G>A | CA388032234 | ATP7B | c.*802C>T (n.*802C>T) c.*1713C>T (n.*1713C>T) c.2348C>T (p.Ala783Val) c.2969C>T (p.Ala990Val) c.2636C>T (p.Ala879Val) c.2717C>T (p.Ala906Val) c.2735C>T (p.Ala912Val) n.1116C>T n.3332C>T c.1904C>T (p.Ala635Val) c.1679C>T (p.Ala560Val) c.2866-2084C>T (n.2866-2084C>T) n.189C>T c.930C>T c.*70C>T (n.*70C>T) n.3713C>T n.2314C>T c.2825C>T (p.Ala942Val) n.315C>T c.2873C>T (p.Ala958Val) c.2933C>T (p.Ala978Val) c.2483C>T (p.Ala828Val) c.785C>T (p.Ala262Val) c.2834C>T (p.Ala945Val) c.2555C>T (p.Ala852Val) c.2730+3632C>T (n.2730+3632C>T) c.1637C>T (p.Ala546Val) n.3188C>T | gnomAD v4 |
13 | g.51946375G>C | CA388032236 | ATP7B | c.*802C>G (n.*802C>G) c.*1713C>G (n.*1713C>G) c.2348C>G (p.Ala783Gly) c.2969C>G (p.Ala990Gly) c.2636C>G (p.Ala879Gly) c.2717C>G (p.Ala906Gly) c.2735C>G (p.Ala912Gly) n.1116C>G n.3332C>G c.1904C>G (p.Ala635Gly) c.1679C>G (p.Ala560Gly) c.2866-2084C>G (n.2866-2084C>G) n.189C>G c.930C>G c.*70C>G (n.*70C>G) n.3713C>G n.2314C>G c.2825C>G (p.Ala942Gly) n.315C>G c.2873C>G (p.Ala958Gly) c.2933C>G (p.Ala978Gly) c.2483C>G (p.Ala828Gly) c.785C>G (p.Ala262Gly) c.2834C>G (p.Ala945Gly) c.2555C>G (p.Ala852Gly) c.2730+3632C>G (n.2730+3632C>G) c.1637C>G (p.Ala546Gly) n.3188C>G | |
13 | g.51946375G>T | CA388032238 | ATP7B | c.*802C>A (n.*802C>A) c.*1713C>A (n.*1713C>A) c.2348C>A (p.Ala783Asp) c.2969C>A (p.Ala990Asp) c.2636C>A (p.Ala879Asp) c.2717C>A (p.Ala906Asp) c.2735C>A (p.Ala912Asp) n.1116C>A n.3332C>A c.1904C>A (p.Ala635Asp) c.1679C>A (p.Ala560Asp) c.2866-2084C>A (n.2866-2084C>A) n.189C>A c.930C>A c.*70C>A (n.*70C>A) n.3713C>A n.2314C>A c.2825C>A (p.Ala942Asp) n.315C>A c.2873C>A (p.Ala958Asp) c.2933C>A (p.Ala978Asp) c.2483C>A (p.Ala828Asp) c.785C>A (p.Ala262Asp) c.2834C>A (p.Ala945Asp) c.2555C>A (p.Ala852Asp) c.2730+3632C>A (n.2730+3632C>A) c.1637C>A (p.Ala546Asp) n.3188C>A | |
13 | g.51946376C>A | CA388032239 | ATP7B | c.*801G>T (n.*801G>T) c.*1712G>T (n.*1712G>T) c.2347G>T (p.Ala783Ser) c.2968G>T (p.Ala990Ser) c.2635G>T (p.Ala879Ser) c.2716G>T (p.Ala906Ser) c.2734G>T (p.Ala912Ser) n.1115G>T n.3331G>T c.1903G>T (p.Ala635Ser) c.1678G>T (p.Ala560Ser) c.2866-2085G>T (n.2866-2085G>T) n.188G>T c.929G>T c.*69G>T (n.*69G>T) n.3712G>T n.2313G>T c.2824G>T (p.Ala942Ser) n.314G>T c.2872G>T (p.Ala958Ser) c.2932G>T (p.Ala978Ser) c.2482G>T (p.Ala828Ser) c.784G>T (p.Ala262Ser) c.2833G>T (p.Ala945Ser) c.2554G>T (p.Ala852Ser) c.2730+3631G>T (n.2730+3631G>T) c.1636G>T (p.Ala546Ser) n.3187G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51946376C= | CA2091566172 | ATP7B | c.*801G= (n.*801G=) c.*1712G= (n.*1712G=) c.2347G= (p.Ala783=) c.2968G= (p.Ala990=) c.2635G= (p.Ala879=) c.2716G= (p.Ala906=) c.2734G= (p.Ala912=) n.1115G= n.3331G= c.1903G= (p.Ala635=) c.1678G= (p.Ala560=) c.2866-2085G= (n.2866-2085G=) n.188G= c.929G= c.*69G= (n.*69G=) n.3712G= n.2313G= c.2824G= (p.Ala942=) n.314G= c.2872G= (p.Ala958=) c.2932G= (p.Ala978=) c.2482G= (p.Ala828=) c.784G= (p.Ala262=) c.2833G= (p.Ala945=) c.2554G= (p.Ala852=) c.2730+3631G= (n.2730+3631G=) c.1636G= (p.Ala546=) n.3187G= | |
13 | g.51946376C>G | CA388032241 | ATP7B | c.*801G>C (n.*801G>C) c.*1712G>C (n.*1712G>C) c.2347G>C (p.Ala783Pro) c.2968G>C (p.Ala990Pro) c.2635G>C (p.Ala879Pro) c.2716G>C (p.Ala906Pro) c.2734G>C (p.Ala912Pro) n.1115G>C n.3331G>C c.1903G>C (p.Ala635Pro) c.1678G>C (p.Ala560Pro) c.2866-2085G>C (n.2866-2085G>C) n.188G>C c.929G>C c.*69G>C (n.*69G>C) n.3712G>C n.2313G>C c.2824G>C (p.Ala942Pro) n.314G>C c.2872G>C (p.Ala958Pro) c.2932G>C (p.Ala978Pro) c.2482G>C (p.Ala828Pro) c.784G>C (p.Ala262Pro) c.2833G>C (p.Ala945Pro) c.2554G>C (p.Ala852Pro) c.2730+3631G>C (n.2730+3631G>C) c.1636G>C (p.Ala546Pro) n.3187G>C | |
13 | g.51946376C>T | CA388032240 | ATP7B | c.*801G>A (n.*801G>A) c.*1712G>A (n.*1712G>A) c.2347G>A (p.Ala783Thr) c.2968G>A (p.Ala990Thr) c.2635G>A (p.Ala879Thr) c.2716G>A (p.Ala906Thr) c.2734G>A (p.Ala912Thr) n.1115G>A n.3331G>A c.1903G>A (p.Ala635Thr) c.1678G>A (p.Ala560Thr) c.2866-2085G>A (n.2866-2085G>A) n.188G>A c.929G>A c.*69G>A (n.*69G>A) n.3712G>A n.2313G>A c.2824G>A (p.Ala942Thr) n.314G>A c.2872G>A (p.Ala958Thr) c.2932G>A (p.Ala978Thr) c.2482G>A (p.Ala828Thr) c.784G>A (p.Ala262Thr) c.2833G>A (p.Ala945Thr) c.2554G>A (p.Ala852Thr) c.2730+3631G>A (n.2730+3631G>A) c.1636G>A (p.Ala546Thr) n.3187G>A | gnomAD v4 |
13 | g.51946377C>A | CA6988853 | ATP7B | c.*800G>T (n.*800G>T) c.*1711G>T (n.*1711G>T) c.2346G>T (p.Leu782=) c.2967G>T (p.Leu989=) c.2634G>T (p.Leu878=) c.2715G>T (p.Leu905=) c.2733G>T (p.Leu911=) n.1114G>T n.3330G>T c.1902G>T (p.Leu634=) c.1677G>T (p.Leu559=) c.2866-2086G>T (n.2866-2086G>T) n.187G>T c.928G>T c.*68G>T (n.*68G>T) n.3711G>T n.2312G>T c.2823G>T (p.Leu941=) n.313G>T c.2871G>T (p.Leu957=) c.2931G>T (p.Leu977=) c.2481G>T (p.Leu827=) c.783G>T (p.Leu261=) c.2832G>T (p.Leu944=) c.2553G>T (p.Leu851=) c.2730+3630G>T (n.2730+3630G>T) c.1635G>T (p.Leu545=) n.3186G>T | dbSNP ExAC gnomAD v2 |
13 | g.51946377C= | CA2091566173 | ATP7B | c.*800G= (n.*800G=) c.*1711G= (n.*1711G=) c.2346G= (p.Leu782=) c.2967G= (p.Leu989=) c.2634G= (p.Leu878=) c.2715G= (p.Leu905=) c.2733G= (p.Leu911=) n.1114G= n.3330G= c.1902G= (p.Leu634=) c.1677G= (p.Leu559=) c.2866-2086G= (n.2866-2086G=) n.187G= c.928G= c.*68G= (n.*68G=) n.3711G= n.2312G= c.2823G= (p.Leu941=) n.313G= c.2871G= (p.Leu957=) c.2931G= (p.Leu977=) c.2481G= (p.Leu827=) c.783G= (p.Leu261=) c.2832G= (p.Leu944=) c.2553G= (p.Leu851=) c.2730+3630G= (n.2730+3630G=) c.1635G= (p.Leu545=) n.3186G= | |
13 | g.51946377C>G | CA483894941 | ATP7B | c.*800G>C (n.*800G>C) c.*1711G>C (n.*1711G>C) c.2346G>C (p.Leu782=) c.2967G>C (p.Leu989=) c.2634G>C (p.Leu878=) c.2715G>C (p.Leu905=) c.2733G>C (p.Leu911=) n.1114G>C n.3330G>C c.1902G>C (p.Leu634=) c.1677G>C (p.Leu559=) c.2866-2086G>C (n.2866-2086G>C) n.187G>C c.928G>C c.*68G>C (n.*68G>C) n.3711G>C n.2312G>C c.2823G>C (p.Leu941=) n.313G>C c.2871G>C (p.Leu957=) c.2931G>C (p.Leu977=) c.2481G>C (p.Leu827=) c.783G>C (p.Leu261=) c.2832G>C (p.Leu944=) c.2553G>C (p.Leu851=) c.2730+3630G>C (n.2730+3630G>C) c.1635G>C (p.Leu545=) n.3186G>C | ClinVar |
13 | g.51946377C>T | CA483894943 | ATP7B | c.*800G>A (n.*800G>A) c.*1711G>A (n.*1711G>A) c.2346G>A (p.Leu782=) c.2967G>A (p.Leu989=) c.2634G>A (p.Leu878=) c.2715G>A (p.Leu905=) c.2733G>A (p.Leu911=) n.1114G>A n.3330G>A c.1902G>A (p.Leu634=) c.1677G>A (p.Leu559=) c.2866-2086G>A (n.2866-2086G>A) n.187G>A c.928G>A c.*68G>A (n.*68G>A) n.3711G>A n.2312G>A c.2823G>A (p.Leu941=) n.313G>A c.2871G>A (p.Leu957=) c.2931G>A (p.Leu977=) c.2481G>A (p.Leu827=) c.783G>A (p.Leu261=) c.2832G>A (p.Leu944=) c.2553G>A (p.Leu851=) c.2730+3630G>A (n.2730+3630G>A) c.1635G>A (p.Leu545=) n.3186G>A | |
13 | g.51946378A>C | CA388032243 | ATP7B | c.*799T>G (n.*799T>G) c.*1710T>G (n.*1710T>G) c.2345T>G (p.Leu782Arg) c.2966T>G (p.Leu989Arg) c.2633T>G (p.Leu878Arg) c.2714T>G (p.Leu905Arg) c.2732T>G (p.Leu911Arg) n.1113T>G n.3329T>G c.1901T>G (p.Leu634Arg) c.1676T>G (p.Leu559Arg) c.2866-2087T>G (n.2866-2087T>G) n.186T>G c.927T>G c.*67T>G (n.*67T>G) n.3710T>G n.2311T>G c.2822T>G (p.Leu941Arg) n.312T>G c.2870T>G (p.Leu957Arg) c.2930T>G (p.Leu977Arg) c.2480T>G (p.Leu827Arg) c.782T>G (p.Leu261Arg) c.2831T>G (p.Leu944Arg) c.2552T>G (p.Leu851Arg) c.2730+3629T>G (n.2730+3629T>G) c.1634T>G (p.Leu545Arg) n.3185T>G | |
13 | g.51946378A>G | CA388032244 | ATP7B | c.*799T>C (n.*799T>C) c.*1710T>C (n.*1710T>C) c.2345T>C (p.Leu782Pro) c.2966T>C (p.Leu989Pro) c.2633T>C (p.Leu878Pro) c.2714T>C (p.Leu905Pro) c.2732T>C (p.Leu911Pro) n.1113T>C n.3329T>C c.1901T>C (p.Leu634Pro) c.1676T>C (p.Leu559Pro) c.2866-2087T>C (n.2866-2087T>C) n.186T>C c.927T>C c.*67T>C (n.*67T>C) n.3710T>C n.2311T>C c.2822T>C (p.Leu941Pro) n.312T>C c.2870T>C (p.Leu957Pro) c.2930T>C (p.Leu977Pro) c.2480T>C (p.Leu827Pro) c.782T>C (p.Leu261Pro) c.2831T>C (p.Leu944Pro) c.2552T>C (p.Leu851Pro) c.2730+3629T>C (n.2730+3629T>C) c.1634T>C (p.Leu545Pro) n.3185T>C | |
13 | g.51946378A>T | CA388032246 | ATP7B | c.*799T>A (n.*799T>A) c.*1710T>A (n.*1710T>A) c.2345T>A (p.Leu782Gln) c.2966T>A (p.Leu989Gln) c.2633T>A (p.Leu878Gln) c.2714T>A (p.Leu905Gln) c.2732T>A (p.Leu911Gln) n.1113T>A n.3329T>A c.1901T>A (p.Leu634Gln) c.1676T>A (p.Leu559Gln) c.2866-2087T>A (n.2866-2087T>A) n.186T>A c.927T>A c.*67T>A (n.*67T>A) n.3710T>A n.2311T>A c.2822T>A (p.Leu941Gln) n.312T>A c.2870T>A (p.Leu957Gln) c.2930T>A (p.Leu977Gln) c.2480T>A (p.Leu827Gln) c.782T>A (p.Leu261Gln) c.2831T>A (p.Leu944Gln) c.2552T>A (p.Leu851Gln) c.2730+3629T>A (n.2730+3629T>A) c.1634T>A (p.Leu545Gln) n.3185T>A | |
13 | g.51946379G>A | CA483894944 | ATP7B | c.*798C>T (n.*798C>T) c.*1709C>T (n.*1709C>T) c.2344C>T (p.Leu782=) c.2965C>T (p.Leu989=) c.2632C>T (p.Leu878=) c.2713C>T (p.Leu905=) c.2731C>T (p.Leu911=) n.1112C>T n.3328C>T c.1900C>T (p.Leu634=) c.1675C>T (p.Leu559=) c.2866-2088C>T (n.2866-2088C>T) n.185C>T c.926C>T c.*66C>T (n.*66C>T) n.3709C>T n.2310C>T c.2821C>T (p.Leu941=) n.311C>T c.2869C>T (p.Leu957=) c.2929C>T (p.Leu977=) c.2479C>T (p.Leu827=) c.781C>T (p.Leu261=) c.2830C>T (p.Leu944=) c.2551C>T (p.Leu851=) c.2730+3628C>T (n.2730+3628C>T) c.1633C>T (p.Leu545=) n.3184C>T | |
13 | g.51946379G>C | CA388032250 | ATP7B | c.*798C>G (n.*798C>G) c.*1709C>G (n.*1709C>G) c.2344C>G (p.Leu782Val) c.2965C>G (p.Leu989Val) c.2632C>G (p.Leu878Val) c.2713C>G (p.Leu905Val) c.2731C>G (p.Leu911Val) n.1112C>G n.3328C>G c.1900C>G (p.Leu634Val) c.1675C>G (p.Leu559Val) c.2866-2088C>G (n.2866-2088C>G) n.185C>G c.926C>G c.*66C>G (n.*66C>G) n.3709C>G n.2310C>G c.2821C>G (p.Leu941Val) n.311C>G c.2869C>G (p.Leu957Val) c.2929C>G (p.Leu977Val) c.2479C>G (p.Leu827Val) c.781C>G (p.Leu261Val) c.2830C>G (p.Leu944Val) c.2551C>G (p.Leu851Val) c.2730+3628C>G (n.2730+3628C>G) c.1633C>G (p.Leu545Val) n.3184C>G | |
13 | g.51946379G>T | CA388032252 | ATP7B | c.*798C>A (n.*798C>A) c.*1709C>A (n.*1709C>A) c.2344C>A (p.Leu782Met) c.2965C>A (p.Leu989Met) c.2632C>A (p.Leu878Met) c.2713C>A (p.Leu905Met) c.2731C>A (p.Leu911Met) n.1112C>A n.3328C>A c.1900C>A (p.Leu634Met) c.1675C>A (p.Leu559Met) c.2866-2088C>A (n.2866-2088C>A) n.185C>A c.926C>A c.*66C>A (n.*66C>A) n.3709C>A n.2310C>A c.2821C>A (p.Leu941Met) n.311C>A c.2869C>A (p.Leu957Met) c.2929C>A (p.Leu977Met) c.2479C>A (p.Leu827Met) c.781C>A (p.Leu261Met) c.2830C>A (p.Leu944Met) c.2551C>A (p.Leu851Met) c.2730+3628C>A (n.2730+3628C>A) c.1633C>A (p.Leu545Met) n.3184C>A | |
13 | g.51946380C>A | CA6988854 | ATP7B | c.*797G>T (n.*797G>T) c.*1708G>T (n.*1708G>T) c.2343G>T (p.Gly781=) c.2964G>T (p.Gly988=) c.2631G>T (p.Gly877=) c.2712G>T (p.Gly904=) c.2730G>T (p.Gly910=) n.1111G>T n.3327G>T c.1899G>T (p.Gly633=) c.1674G>T (p.Gly558=) c.2866-2089G>T (n.2866-2089G>T) n.184G>T c.925G>T c.*65G>T (n.*65G>T) n.3708G>T n.2309G>T c.2820G>T (p.Gly940=) n.310G>T c.2868G>T (p.Gly956=) c.2928G>T (p.Gly976=) c.2478G>T (p.Gly826=) c.780G>T (p.Gly260=) c.2829G>T (p.Gly943=) c.2550G>T (p.Gly850=) c.2730+3627G>T (n.2730+3627G>T) c.1632G>T (p.Gly544=) n.3183G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51946380C= | CA2091566174 | ATP7B | c.*797G= (n.*797G=) c.*1708G= (n.*1708G=) c.2343G= (p.Gly781=) c.2964G= (p.Gly988=) c.2631G= (p.Gly877=) c.2712G= (p.Gly904=) c.2730G= (p.Gly910=) n.1111G= n.3327G= c.1899G= (p.Gly633=) c.1674G= (p.Gly558=) c.2866-2089G= (n.2866-2089G=) n.184G= c.925G= c.*65G= (n.*65G=) n.3708G= n.2309G= c.2820G= (p.Gly940=) n.310G= c.2868G= (p.Gly956=) c.2928G= (p.Gly976=) c.2478G= (p.Gly826=) c.780G= (p.Gly260=) c.2829G= (p.Gly943=) c.2550G= (p.Gly850=) c.2730+3627G= (n.2730+3627G=) c.1632G= (p.Gly544=) n.3183G= | |
13 | g.51946380C>G | CA483894946 | ATP7B | c.*797G>C (n.*797G>C) c.*1708G>C (n.*1708G>C) c.2343G>C (p.Gly781=) c.2964G>C (p.Gly988=) c.2631G>C (p.Gly877=) c.2712G>C (p.Gly904=) c.2730G>C (p.Gly910=) n.1111G>C n.3327G>C c.1899G>C (p.Gly633=) c.1674G>C (p.Gly558=) c.2866-2089G>C (n.2866-2089G>C) n.184G>C c.925G>C c.*65G>C (n.*65G>C) n.3708G>C n.2309G>C c.2820G>C (p.Gly940=) n.310G>C c.2868G>C (p.Gly956=) c.2928G>C (p.Gly976=) c.2478G>C (p.Gly826=) c.780G>C (p.Gly260=) c.2829G>C (p.Gly943=) c.2550G>C (p.Gly850=) c.2730+3627G>C (n.2730+3627G>C) c.1632G>C (p.Gly544=) n.3183G>C | |
13 | g.51946380C>T | CA483894947 | ATP7B | c.*797G>A (n.*797G>A) c.*1708G>A (n.*1708G>A) c.2343G>A (p.Gly781=) c.2964G>A (p.Gly988=) c.2631G>A (p.Gly877=) c.2712G>A (p.Gly904=) c.2730G>A (p.Gly910=) n.1111G>A n.3327G>A c.1899G>A (p.Gly633=) c.1674G>A (p.Gly558=) c.2866-2089G>A (n.2866-2089G>A) n.184G>A c.925G>A c.*65G>A (n.*65G>A) n.3708G>A n.2309G>A c.2820G>A (p.Gly940=) n.310G>A c.2868G>A (p.Gly956=) c.2928G>A (p.Gly976=) c.2478G>A (p.Gly826=) c.780G>A (p.Gly260=) c.2829G>A (p.Gly943=) c.2550G>A (p.Gly850=) c.2730+3627G>A (n.2730+3627G>A) c.1632G>A (p.Gly544=) n.3183G>A | ClinVar dbSNP gnomAD v4 |
13 | g.51946383del | CA2580087666 | ATP7B | c.*797del (n.*797del) c.*1708del (n.*1708del) c.2343del (p.Leu782TrpfsTer?) c.2964del (p.Leu989TrpfsTer?) c.2631del (p.Leu878TrpfsTer?) c.2712del (p.Leu905TrpfsTer?) c.2730del (p.Leu911TrpfsTer?) n.1111del n.3327del c.1899del (p.Leu634TrpfsTer?) c.1674del (p.Leu559TrpfsTer?) c.2866-2089del (n.2866-2089del) n.184del c.925del c.*65del (n.*65del) n.3708del n.2309del c.2820del (p.Leu941TrpfsTer?) n.310del c.2868del (p.Leu957TrpfsTer?) c.2928del (p.Leu977TrpfsTer?) c.2478del (p.Leu827TrpfsTer?) c.780del (p.Leu261TrpfsTer?) c.2829del (p.Leu944TrpfsTer?) c.2550del (p.Leu851TrpfsTer?) c.2730+3627del (n.2730+3627del) c.1632del (p.Leu545TrpfsTer?) n.3183del | ClinVar |
13 | g.51946381C>A | CA388032255 | ATP7B | c.*796G>T (n.*796G>T) c.*1707G>T (n.*1707G>T) c.2342G>T (p.Gly781Val) c.2963G>T (p.Gly988Val) c.2630G>T (p.Gly877Val) c.2711G>T (p.Gly904Val) c.2729G>T (p.Gly910Val) n.1110G>T n.3326G>T c.1898G>T (p.Gly633Val) c.1673G>T (p.Gly558Val) c.2866-2090G>T (n.2866-2090G>T) n.183G>T c.924G>T c.*64G>T (n.*64G>T) n.3707G>T n.2308G>T c.2819G>T (p.Gly940Val) n.309G>T c.2867G>T (p.Gly956Val) c.2927G>T (p.Gly976Val) c.2477G>T (p.Gly826Val) c.779G>T (p.Gly260Val) c.2828G>T (p.Gly943Val) c.2549G>T (p.Gly850Val) c.2730+3626G>T (n.2730+3626G>T) c.1631G>T (p.Gly544Val) n.3182G>T | ClinVar gnomAD v4 |
13 | g.51946381C= | CA2091566175 | ATP7B | c.*796G= (n.*796G=) c.*1707G= (n.*1707G=) c.2342G= (p.Gly781=) c.2963G= (p.Gly988=) c.2630G= (p.Gly877=) c.2711G= (p.Gly904=) c.2729G= (p.Gly910=) n.1110G= n.3326G= c.1898G= (p.Gly633=) c.1673G= (p.Gly558=) c.2866-2090G= (n.2866-2090G=) n.183G= c.924G= c.*64G= (n.*64G=) n.3707G= n.2308G= c.2819G= (p.Gly940=) n.309G= c.2867G= (p.Gly956=) c.2927G= (p.Gly976=) c.2477G= (p.Gly826=) c.779G= (p.Gly260=) c.2828G= (p.Gly943=) c.2549G= (p.Gly850=) c.2730+3626G= (n.2730+3626G=) c.1631G= (p.Gly544=) n.3182G= | |
13 | g.51946381C>G | CA388032257 | ATP7B | c.*796G>C (n.*796G>C) c.*1707G>C (n.*1707G>C) c.2342G>C (p.Gly781Ala) c.2963G>C (p.Gly988Ala) c.2630G>C (p.Gly877Ala) c.2711G>C (p.Gly904Ala) c.2729G>C (p.Gly910Ala) n.1110G>C n.3326G>C c.1898G>C (p.Gly633Ala) c.1673G>C (p.Gly558Ala) c.2866-2090G>C (n.2866-2090G>C) n.183G>C c.924G>C c.*64G>C (n.*64G>C) n.3707G>C n.2308G>C c.2819G>C (p.Gly940Ala) n.309G>C c.2867G>C (p.Gly956Ala) c.2927G>C (p.Gly976Ala) c.2477G>C (p.Gly826Ala) c.779G>C (p.Gly260Ala) c.2828G>C (p.Gly943Ala) c.2549G>C (p.Gly850Ala) c.2730+3626G>C (n.2730+3626G>C) c.1631G>C (p.Gly544Ala) n.3182G>C | gnomAD v4 |
13 | g.51946381C>T | CA16043475 | ATP7B | c.*796G>A (n.*796G>A) c.*1707G>A (n.*1707G>A) c.2342G>A (p.Gly781Glu) c.2963G>A (p.Gly988Glu) c.2630G>A (p.Gly877Glu) c.2711G>A (p.Gly904Glu) c.2729G>A (p.Gly910Glu) n.1110G>A n.3326G>A c.1898G>A (p.Gly633Glu) c.1673G>A (p.Gly558Glu) c.2866-2090G>A (n.2866-2090G>A) n.183G>A c.924G>A c.*64G>A (n.*64G>A) n.3707G>A n.2308G>A c.2819G>A (p.Gly940Glu) n.309G>A c.2867G>A (p.Gly956Glu) c.2927G>A (p.Gly976Glu) c.2477G>A (p.Gly826Glu) c.779G>A (p.Gly260Glu) c.2828G>A (p.Gly943Glu) c.2549G>A (p.Gly850Glu) c.2730+3626G>A (n.2730+3626G>A) c.1631G>A (p.Gly544Glu) n.3182G>A | ClinVar dbSNP gnomAD v4 |
13 | g.51946382C>A | CA388032265 | ATP7B | c.*795G>T (n.*795G>T) c.*1706G>T (n.*1706G>T) c.2341G>T (p.Gly781Trp) c.2962G>T (p.Gly988Trp) c.2629G>T (p.Gly877Trp) c.2710G>T (p.Gly904Trp) c.2728G>T (p.Gly910Trp) n.1109G>T n.3325G>T c.1897G>T (p.Gly633Trp) c.1672G>T (p.Gly558Trp) c.2866-2091G>T (n.2866-2091G>T) n.182G>T c.923G>T c.*63G>T (n.*63G>T) n.3706G>T n.2307G>T c.2818G>T (p.Gly940Trp) n.308G>T c.2866G>T (p.Gly956Trp) c.2926G>T (p.Gly976Trp) c.2476G>T (p.Gly826Trp) c.778G>T (p.Gly260Trp) c.2827G>T (p.Gly943Trp) c.2548G>T (p.Gly850Trp) c.2730+3625G>T (n.2730+3625G>T) c.1630G>T (p.Gly544Trp) n.3181G>T | |
13 | g.51946382C= | CA2091566176 | ATP7B | c.*795G= (n.*795G=) c.*1706G= (n.*1706G=) c.2341G= (p.Gly781=) c.2962G= (p.Gly988=) c.2629G= (p.Gly877=) c.2710G= (p.Gly904=) c.2728G= (p.Gly910=) n.1109G= n.3325G= c.1897G= (p.Gly633=) c.1672G= (p.Gly558=) c.2866-2091G= (n.2866-2091G=) n.182G= c.923G= c.*63G= (n.*63G=) n.3706G= n.2307G= c.2818G= (p.Gly940=) n.308G= c.2866G= (p.Gly956=) c.2926G= (p.Gly976=) c.2476G= (p.Gly826=) c.778G= (p.Gly260=) c.2827G= (p.Gly943=) c.2548G= (p.Gly850=) c.2730+3625G= (n.2730+3625G=) c.1630G= (p.Gly544=) n.3181G= | |
13 | g.51946382C>G | CA250082177 | ATP7B | c.*795G>C (n.*795G>C) c.*1706G>C (n.*1706G>C) c.2341G>C (p.Gly781Arg) c.2962G>C (p.Gly988Arg) c.2629G>C (p.Gly877Arg) c.2710G>C (p.Gly904Arg) c.2728G>C (p.Gly910Arg) n.1109G>C n.3325G>C c.1897G>C (p.Gly633Arg) c.1672G>C (p.Gly558Arg) c.2866-2091G>C (n.2866-2091G>C) n.182G>C c.923G>C c.*63G>C (n.*63G>C) n.3706G>C n.2307G>C c.2818G>C (p.Gly940Arg) n.308G>C c.2866G>C (p.Gly956Arg) c.2926G>C (p.Gly976Arg) c.2476G>C (p.Gly826Arg) c.778G>C (p.Gly260Arg) c.2827G>C (p.Gly943Arg) c.2548G>C (p.Gly850Arg) c.2730+3625G>C (n.2730+3625G>C) c.1630G>C (p.Gly544Arg) n.3181G>C | ClinVar dbSNP gnomAD v4 |
13 | g.51946382C>T | CA388032263 | ATP7B | c.*795G>A (n.*795G>A) c.*1706G>A (n.*1706G>A) c.2341G>A (p.Gly781Arg) c.2962G>A (p.Gly988Arg) c.2629G>A (p.Gly877Arg) c.2710G>A (p.Gly904Arg) c.2728G>A (p.Gly910Arg) n.1109G>A n.3325G>A c.1897G>A (p.Gly633Arg) c.1672G>A (p.Gly558Arg) c.2866-2091G>A (n.2866-2091G>A) n.182G>A c.923G>A c.*63G>A (n.*63G>A) n.3706G>A n.2307G>A c.2818G>A (p.Gly940Arg) n.308G>A c.2866G>A (p.Gly956Arg) c.2926G>A (p.Gly976Arg) c.2476G>A (p.Gly826Arg) c.778G>A (p.Gly260Arg) c.2827G>A (p.Gly943Arg) c.2548G>A (p.Gly850Arg) c.2730+3625G>A (n.2730+3625G>A) c.1630G>A (p.Gly544Arg) n.3181G>A | |
13 | g.51946383C>A | CA483894949 | ATP7B | c.*794G>T (n.*794G>T) c.*1705G>T (n.*1705G>T) c.2340G>T (p.Leu780=) c.2961G>T (p.Leu987=) c.2628G>T (p.Leu876=) c.2709G>T (p.Leu903=) c.2727G>T (p.Leu909=) n.1108G>T n.3324G>T c.1896G>T (p.Leu632=) c.1671G>T (p.Leu557=) c.2866-2092G>T (n.2866-2092G>T) n.181G>T c.922G>T c.*62G>T (n.*62G>T) n.3705G>T n.2306G>T c.2817G>T (p.Leu939=) n.307G>T c.2865G>T (p.Leu955=) c.2925G>T (p.Leu975=) c.2475G>T (p.Leu825=) c.777G>T (p.Leu259=) c.2826G>T (p.Leu942=) c.2547G>T (p.Leu849=) c.2730+3624G>T (n.2730+3624G>T) c.1629G>T (p.Leu543=) n.3180G>T | |
13 | g.51946383C>G | CA483894950 | ATP7B | c.*794G>C (n.*794G>C) c.*1705G>C (n.*1705G>C) c.2340G>C (p.Leu780=) c.2961G>C (p.Leu987=) c.2628G>C (p.Leu876=) c.2709G>C (p.Leu903=) c.2727G>C (p.Leu909=) n.1108G>C n.3324G>C c.1896G>C (p.Leu632=) c.1671G>C (p.Leu557=) c.2866-2092G>C (n.2866-2092G>C) n.181G>C c.922G>C c.*62G>C (n.*62G>C) n.3705G>C n.2306G>C c.2817G>C (p.Leu939=) n.307G>C c.2865G>C (p.Leu955=) c.2925G>C (p.Leu975=) c.2475G>C (p.Leu825=) c.777G>C (p.Leu259=) c.2826G>C (p.Leu942=) c.2547G>C (p.Leu849=) c.2730+3624G>C (n.2730+3624G>C) c.1629G>C (p.Leu543=) n.3180G>C | dbSNP |
13 | g.51946383C>T | CA483894951 | ATP7B | c.*794G>A (n.*794G>A) c.*1705G>A (n.*1705G>A) c.2340G>A (p.Leu780=) c.2961G>A (p.Leu987=) c.2628G>A (p.Leu876=) c.2709G>A (p.Leu903=) c.2727G>A (p.Leu909=) n.1108G>A n.3324G>A c.1896G>A (p.Leu632=) c.1671G>A (p.Leu557=) c.2866-2092G>A (n.2866-2092G>A) n.181G>A c.922G>A c.*62G>A (n.*62G>A) n.3705G>A n.2306G>A c.2817G>A (p.Leu939=) n.307G>A c.2865G>A (p.Leu955=) c.2925G>A (p.Leu975=) c.2475G>A (p.Leu825=) c.777G>A (p.Leu259=) c.2826G>A (p.Leu942=) c.2547G>A (p.Leu849=) c.2730+3624G>A (n.2730+3624G>A) c.1629G>A (p.Leu543=) n.3180G>A | |
13 | g.51946384A>C | CA388032267 | ATP7B | c.*793T>G (n.*793T>G) c.*1704T>G (n.*1704T>G) c.2339T>G (p.Leu780Arg) c.2960T>G (p.Leu987Arg) c.2627T>G (p.Leu876Arg) c.2708T>G (p.Leu903Arg) c.2726T>G (p.Leu909Arg) n.1107T>G n.3323T>G c.1895T>G (p.Leu632Arg) c.1670T>G (p.Leu557Arg) c.2866-2093T>G (n.2866-2093T>G) n.180T>G c.921T>G c.*61T>G (n.*61T>G) n.3704T>G n.2305T>G c.2816T>G (p.Leu939Arg) n.306T>G c.2864T>G (p.Leu955Arg) c.2924T>G (p.Leu975Arg) c.2474T>G (p.Leu825Arg) c.776T>G (p.Leu259Arg) c.2825T>G (p.Leu942Arg) c.2546T>G (p.Leu849Arg) c.2730+3623T>G (n.2730+3623T>G) c.1628T>G (p.Leu543Arg) n.3179T>G | |
13 | g.51946384A>G | CA388032268 | ATP7B | c.*793T>C (n.*793T>C) c.*1704T>C (n.*1704T>C) c.2339T>C (p.Leu780Pro) c.2960T>C (p.Leu987Pro) c.2627T>C (p.Leu876Pro) c.2708T>C (p.Leu903Pro) c.2726T>C (p.Leu909Pro) n.1107T>C n.3323T>C c.1895T>C (p.Leu632Pro) c.1670T>C (p.Leu557Pro) c.2866-2093T>C (n.2866-2093T>C) n.180T>C c.921T>C c.*61T>C (n.*61T>C) n.3704T>C n.2305T>C c.2816T>C (p.Leu939Pro) n.306T>C c.2864T>C (p.Leu955Pro) c.2924T>C (p.Leu975Pro) c.2474T>C (p.Leu825Pro) c.776T>C (p.Leu259Pro) c.2825T>C (p.Leu942Pro) c.2546T>C (p.Leu849Pro) c.2730+3623T>C (n.2730+3623T>C) c.1628T>C (p.Leu543Pro) n.3179T>C | |
13 | g.51946384A>T | CA388032270 | ATP7B | c.*793T>A (n.*793T>A) c.*1704T>A (n.*1704T>A) c.2339T>A (p.Leu780Gln) c.2960T>A (p.Leu987Gln) c.2627T>A (p.Leu876Gln) c.2708T>A (p.Leu903Gln) c.2726T>A (p.Leu909Gln) n.1107T>A n.3323T>A c.1895T>A (p.Leu632Gln) c.1670T>A (p.Leu557Gln) c.2866-2093T>A (n.2866-2093T>A) n.180T>A c.921T>A c.*61T>A (n.*61T>A) n.3704T>A n.2305T>A c.2816T>A (p.Leu939Gln) n.306T>A c.2864T>A (p.Leu955Gln) c.2924T>A (p.Leu975Gln) c.2474T>A (p.Leu825Gln) c.776T>A (p.Leu259Gln) c.2825T>A (p.Leu942Gln) c.2546T>A (p.Leu849Gln) c.2730+3623T>A (n.2730+3623T>A) c.1628T>A (p.Leu543Gln) n.3179T>A | |
13 | g.51946385G>A | CA483894953 | ATP7B | c.*792C>T (n.*792C>T) c.*1703C>T (n.*1703C>T) c.2338C>T (p.Leu780=) c.2959C>T (p.Leu987=) c.2626C>T (p.Leu876=) c.2707C>T (p.Leu903=) c.2725C>T (p.Leu909=) n.1106C>T n.3322C>T c.1894C>T (p.Leu632=) c.1669C>T (p.Leu557=) c.2866-2094C>T (n.2866-2094C>T) n.179C>T c.920C>T c.*60C>T (n.*60C>T) n.3703C>T n.2304C>T c.2815C>T (p.Leu939=) n.305C>T c.2863C>T (p.Leu955=) c.2923C>T (p.Leu975=) c.2473C>T (p.Leu825=) c.775C>T (p.Leu259=) c.2824C>T (p.Leu942=) c.2545C>T (p.Leu849=) c.2730+3622C>T (n.2730+3622C>T) c.1627C>T (p.Leu543=) n.3178C>T | ClinVar |
13 | g.51946385G>C | CA388032273 | ATP7B | c.*792C>G (n.*792C>G) c.*1703C>G (n.*1703C>G) c.2338C>G (p.Leu780Val) c.2959C>G (p.Leu987Val) c.2626C>G (p.Leu876Val) c.2707C>G (p.Leu903Val) c.2725C>G (p.Leu909Val) n.1106C>G n.3322C>G c.1894C>G (p.Leu632Val) c.1669C>G (p.Leu557Val) c.2866-2094C>G (n.2866-2094C>G) n.179C>G c.920C>G c.*60C>G (n.*60C>G) n.3703C>G n.2304C>G c.2815C>G (p.Leu939Val) n.305C>G c.2863C>G (p.Leu955Val) c.2923C>G (p.Leu975Val) c.2473C>G (p.Leu825Val) c.775C>G (p.Leu259Val) c.2824C>G (p.Leu942Val) c.2545C>G (p.Leu849Val) c.2730+3622C>G (n.2730+3622C>G) c.1627C>G (p.Leu543Val) n.3178C>G | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51946385G= | CA2091566177 | ATP7B | c.*792C= (n.*792C=) c.*1703C= (n.*1703C=) c.2338C= (p.Leu780=) c.2959C= (p.Leu987=) c.2626C= (p.Leu876=) c.2707C= (p.Leu903=) c.2725C= (p.Leu909=) n.1106C= n.3322C= c.1894C= (p.Leu632=) c.1669C= (p.Leu557=) c.2866-2094C= (n.2866-2094C=) n.179C= c.920C= c.*60C= (n.*60C=) n.3703C= n.2304C= c.2815C= (p.Leu939=) n.305C= c.2863C= (p.Leu955=) c.2923C= (p.Leu975=) c.2473C= (p.Leu825=) c.775C= (p.Leu259=) c.2824C= (p.Leu942=) c.2545C= (p.Leu849=) c.2730+3622C= (n.2730+3622C=) c.1627C= (p.Leu543=) n.3178C= | |
13 | g.51946385G>T | CA388032274 | ATP7B | c.*792C>A (n.*792C>A) c.*1703C>A (n.*1703C>A) c.2338C>A (p.Leu780Met) c.2959C>A (p.Leu987Met) c.2626C>A (p.Leu876Met) c.2707C>A (p.Leu903Met) c.2725C>A (p.Leu909Met) n.1106C>A n.3322C>A c.1894C>A (p.Leu632Met) c.1669C>A (p.Leu557Met) c.2866-2094C>A (n.2866-2094C>A) n.179C>A c.920C>A c.*60C>A (n.*60C>A) n.3703C>A n.2304C>A c.2815C>A (p.Leu939Met) n.305C>A c.2863C>A (p.Leu955Met) c.2923C>A (p.Leu975Met) c.2473C>A (p.Leu825Met) c.775C>A (p.Leu259Met) c.2824C>A (p.Leu942Met) c.2545C>A (p.Leu849Met) c.2730+3622C>A (n.2730+3622C>A) c.1627C>A (p.Leu543Met) n.3178C>A | |
13 | g.51946386G>A | CA483894954 | ATP7B | c.*791C>T (n.*791C>T) c.*1702C>T (n.*1702C>T) c.2337C>T (p.Ser779=) c.2958C>T (p.Ser986=) c.2625C>T (p.Ser875=) c.2706C>T (p.Ser902=) c.2724C>T (p.Ser908=) n.1105C>T n.3321C>T c.1893C>T (p.Ser631=) c.1668C>T (p.Ser556=) c.2866-2095C>T (n.2866-2095C>T) n.178C>T c.919C>T c.*59C>T (n.*59C>T) n.3702C>T n.2303C>T c.2814C>T (p.Ser938=) n.304C>T c.2862C>T (p.Ser954=) c.2922C>T (p.Ser974=) c.2472C>T (p.Ser824=) c.774C>T (p.Ser258=) c.2823C>T (p.Ser941=) c.2544C>T (p.Ser848=) c.2730+3621C>T (n.2730+3621C>T) c.1626C>T (p.Ser542=) n.3177C>T | ClinVar dbSNP |
13 | g.51946386G>C | CA483894956 | ATP7B | c.*791C>G (n.*791C>G) c.*1702C>G (n.*1702C>G) c.2337C>G (p.Ser779=) c.2958C>G (p.Ser986=) c.2625C>G (p.Ser875=) c.2706C>G (p.Ser902=) c.2724C>G (p.Ser908=) n.1105C>G n.3321C>G c.1893C>G (p.Ser631=) c.1668C>G (p.Ser556=) c.2866-2095C>G (n.2866-2095C>G) n.178C>G c.919C>G c.*59C>G (n.*59C>G) n.3702C>G n.2303C>G c.2814C>G (p.Ser938=) n.304C>G c.2862C>G (p.Ser954=) c.2922C>G (p.Ser974=) c.2472C>G (p.Ser824=) c.774C>G (p.Ser258=) c.2823C>G (p.Ser941=) c.2544C>G (p.Ser848=) c.2730+3621C>G (n.2730+3621C>G) c.1626C>G (p.Ser542=) n.3177C>G | dbSNP gnomAD v4 |
13 | g.51946386G>T | CA483894955 | ATP7B | c.*791C>A (n.*791C>A) c.*1702C>A (n.*1702C>A) c.2337C>A (p.Ser779=) c.2958C>A (p.Ser986=) c.2625C>A (p.Ser875=) c.2706C>A (p.Ser902=) c.2724C>A (p.Ser908=) n.1105C>A n.3321C>A c.1893C>A (p.Ser631=) c.1668C>A (p.Ser556=) c.2866-2095C>A (n.2866-2095C>A) n.178C>A c.919C>A c.*59C>A (n.*59C>A) n.3702C>A n.2303C>A c.2814C>A (p.Ser938=) n.304C>A c.2862C>A (p.Ser954=) c.2922C>A (p.Ser974=) c.2472C>A (p.Ser824=) c.774C>A (p.Ser258=) c.2823C>A (p.Ser941=) c.2544C>A (p.Ser848=) c.2730+3621C>A (n.2730+3621C>A) c.1626C>A (p.Ser542=) n.3177C>A | |
13 | g.51946387G>A | CA388032279 | ATP7B | c.*790C>T (n.*790C>T) c.*1701C>T (n.*1701C>T) c.2336C>T (p.Ser779Phe) c.2957C>T (p.Ser986Phe) c.2624C>T (p.Ser875Phe) c.2705C>T (p.Ser902Phe) c.2723C>T (p.Ser908Phe) n.1104C>T n.3320C>T c.1892C>T (p.Ser631Phe) c.1667C>T (p.Ser556Phe) c.2866-2096C>T (n.2866-2096C>T) n.177C>T c.918C>T c.*58C>T (n.*58C>T) n.3701C>T n.2302C>T c.2813C>T (p.Ser938Phe) n.303C>T c.2861C>T (p.Ser954Phe) c.2921C>T (p.Ser974Phe) c.2471C>T (p.Ser824Phe) c.773C>T (p.Ser258Phe) c.2822C>T (p.Ser941Phe) c.2543C>T (p.Ser848Phe) c.2730+3620C>T (n.2730+3620C>T) c.1625C>T (p.Ser542Phe) n.3176C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51946387G>C | CA388032277 | ATP7B | c.*790C>G (n.*790C>G) c.*1701C>G (n.*1701C>G) c.2336C>G (p.Ser779Cys) c.2957C>G (p.Ser986Cys) c.2624C>G (p.Ser875Cys) c.2705C>G (p.Ser902Cys) c.2723C>G (p.Ser908Cys) n.1104C>G n.3320C>G c.1892C>G (p.Ser631Cys) c.1667C>G (p.Ser556Cys) c.2866-2096C>G (n.2866-2096C>G) n.177C>G c.918C>G c.*58C>G (n.*58C>G) n.3701C>G n.2302C>G c.2813C>G (p.Ser938Cys) n.303C>G c.2861C>G (p.Ser954Cys) c.2921C>G (p.Ser974Cys) c.2471C>G (p.Ser824Cys) c.773C>G (p.Ser258Cys) c.2822C>G (p.Ser941Cys) c.2543C>G (p.Ser848Cys) c.2730+3620C>G (n.2730+3620C>G) c.1625C>G (p.Ser542Cys) n.3176C>G | ClinVar |
13 | g.51946387G= | CA2091566178 | ATP7B | c.*790C= (n.*790C=) c.*1701C= (n.*1701C=) c.2336C= (p.Ser779=) c.2957C= (p.Ser986=) c.2624C= (p.Ser875=) c.2705C= (p.Ser902=) c.2723C= (p.Ser908=) n.1104C= n.3320C= c.1892C= (p.Ser631=) c.1667C= (p.Ser556=) c.2866-2096C= (n.2866-2096C=) n.177C= c.918C= c.*58C= (n.*58C=) n.3701C= n.2302C= c.2813C= (p.Ser938=) n.303C= c.2861C= (p.Ser954=) c.2921C= (p.Ser974=) c.2471C= (p.Ser824=) c.773C= (p.Ser258=) c.2822C= (p.Ser941=) c.2543C= (p.Ser848=) c.2730+3620C= (n.2730+3620C=) c.1625C= (p.Ser542=) n.3176C= | |
13 | g.51946387G>T | CA388032276 | ATP7B | c.*790C>A (n.*790C>A) c.*1701C>A (n.*1701C>A) c.2336C>A (p.Ser779Tyr) c.2957C>A (p.Ser986Tyr) c.2624C>A (p.Ser875Tyr) c.2705C>A (p.Ser902Tyr) c.2723C>A (p.Ser908Tyr) n.1104C>A n.3320C>A c.1892C>A (p.Ser631Tyr) c.1667C>A (p.Ser556Tyr) c.2866-2096C>A (n.2866-2096C>A) n.177C>A c.918C>A c.*58C>A (n.*58C>A) n.3701C>A n.2302C>A c.2813C>A (p.Ser938Tyr) n.303C>A c.2861C>A (p.Ser954Tyr) c.2921C>A (p.Ser974Tyr) c.2471C>A (p.Ser824Tyr) c.773C>A (p.Ser258Tyr) c.2822C>A (p.Ser941Tyr) c.2543C>A (p.Ser848Tyr) c.2730+3620C>A (n.2730+3620C>A) c.1625C>A (p.Ser542Tyr) n.3176C>A | |
13 | g.51946388A= | CA2091566179 | ATP7B | c.*789T= (n.*789T=) c.*1700T= (n.*1700T=) c.2335T= (p.Ser779=) c.2956T= (p.Ser986=) c.2623T= (p.Ser875=) c.2704T= (p.Ser902=) c.2722T= (p.Ser908=) n.1103T= n.3319T= c.1891T= (p.Ser631=) c.1666T= (p.Ser556=) c.2866-2097T= (n.2866-2097T=) n.176T= c.917T= c.*57T= (n.*57T=) n.3700T= n.2301T= c.2812T= (p.Ser938=) n.302T= c.2860T= (p.Ser954=) c.2920T= (p.Ser974=) c.2470T= (p.Ser824=) c.772T= (p.Ser258=) c.2821T= (p.Ser941=) c.2542T= (p.Ser848=) c.2730+3619T= (n.2730+3619T=) c.1624T= (p.Ser542=) n.3175T= | |
13 | g.51946388A>C | CA388032281 | ATP7B | c.*789T>G (n.*789T>G) c.*1700T>G (n.*1700T>G) c.2335T>G (p.Ser779Ala) c.2956T>G (p.Ser986Ala) c.2623T>G (p.Ser875Ala) c.2704T>G (p.Ser902Ala) c.2722T>G (p.Ser908Ala) n.1103T>G n.3319T>G c.1891T>G (p.Ser631Ala) c.1666T>G (p.Ser556Ala) c.2866-2097T>G (n.2866-2097T>G) n.176T>G c.917T>G c.*57T>G (n.*57T>G) n.3700T>G n.2301T>G c.2812T>G (p.Ser938Ala) n.302T>G c.2860T>G (p.Ser954Ala) c.2920T>G (p.Ser974Ala) c.2470T>G (p.Ser824Ala) c.772T>G (p.Ser258Ala) c.2821T>G (p.Ser941Ala) c.2542T>G (p.Ser848Ala) c.2730+3619T>G (n.2730+3619T>G) c.1624T>G (p.Ser542Ala) n.3175T>G | dbSNP |
13 | g.51946388A>G | CA388032283 | ATP7B | c.*789T>C (n.*789T>C) c.*1700T>C (n.*1700T>C) c.2335T>C (p.Ser779Pro) c.2956T>C (p.Ser986Pro) c.2623T>C (p.Ser875Pro) c.2704T>C (p.Ser902Pro) c.2722T>C (p.Ser908Pro) n.1103T>C n.3319T>C c.1891T>C (p.Ser631Pro) c.1666T>C (p.Ser556Pro) c.2866-2097T>C (n.2866-2097T>C) n.176T>C c.917T>C c.*57T>C (n.*57T>C) n.3700T>C n.2301T>C c.2812T>C (p.Ser938Pro) n.302T>C c.2860T>C (p.Ser954Pro) c.2920T>C (p.Ser974Pro) c.2470T>C (p.Ser824Pro) c.772T>C (p.Ser258Pro) c.2821T>C (p.Ser941Pro) c.2542T>C (p.Ser848Pro) c.2730+3619T>C (n.2730+3619T>C) c.1624T>C (p.Ser542Pro) n.3175T>C | |
13 | g.51946388A>T | CA388032284 | ATP7B | c.*789T>A (n.*789T>A) c.*1700T>A (n.*1700T>A) c.2335T>A (p.Ser779Thr) c.2956T>A (p.Ser986Thr) c.2623T>A (p.Ser875Thr) c.2704T>A (p.Ser902Thr) c.2722T>A (p.Ser908Thr) n.1103T>A n.3319T>A c.1891T>A (p.Ser631Thr) c.1666T>A (p.Ser556Thr) c.2866-2097T>A (n.2866-2097T>A) n.176T>A c.917T>A c.*57T>A (n.*57T>A) n.3700T>A n.2301T>A c.2812T>A (p.Ser938Thr) n.302T>A c.2860T>A (p.Ser954Thr) c.2920T>A (p.Ser974Thr) c.2470T>A (p.Ser824Thr) c.772T>A (p.Ser258Thr) c.2821T>A (p.Ser941Thr) c.2542T>A (p.Ser848Thr) c.2730+3619T>A (n.2730+3619T>A) c.1624T>A (p.Ser542Thr) n.3175T>A | gnomAD v4 |
13 | g.51946389G>A | CA6988855 | ATP7B | c.*788C>T (n.*788C>T) c.*1699C>T (n.*1699C>T) c.2334C>T (p.Cys778=) c.2955C>T (p.Cys985=) c.2622C>T (p.Cys874=) c.2703C>T (p.Cys901=) c.2721C>T (p.Cys907=) n.1102C>T n.3318C>T c.1890C>T (p.Cys630=) c.1665C>T (p.Cys555=) c.2866-2098C>T (n.2866-2098C>T) n.175C>T c.916C>T c.*56C>T (n.*56C>T) n.3699C>T n.2300C>T c.2811C>T (p.Cys937=) n.301C>T c.2859C>T (p.Cys953=) c.2919C>T (p.Cys973=) c.2469C>T (p.Cys823=) c.771C>T (p.Cys257=) c.2820C>T (p.Cys940=) c.2541C>T (p.Cys847=) c.2730+3618C>T (n.2730+3618C>T) c.1623C>T (p.Cys541=) n.3174C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946389G>C | CA388032286 | ATP7B | c.*788C>G (n.*788C>G) c.*1699C>G (n.*1699C>G) c.2334C>G (p.Cys778Trp) c.2955C>G (p.Cys985Trp) c.2622C>G (p.Cys874Trp) c.2703C>G (p.Cys901Trp) c.2721C>G (p.Cys907Trp) n.1102C>G n.3318C>G c.1890C>G (p.Cys630Trp) c.1665C>G (p.Cys555Trp) c.2866-2098C>G (n.2866-2098C>G) n.175C>G c.916C>G c.*56C>G (n.*56C>G) n.3699C>G n.2300C>G c.2811C>G (p.Cys937Trp) n.301C>G c.2859C>G (p.Cys953Trp) c.2919C>G (p.Cys973Trp) c.2469C>G (p.Cys823Trp) c.771C>G (p.Cys257Trp) c.2820C>G (p.Cys940Trp) c.2541C>G (p.Cys847Trp) c.2730+3618C>G (n.2730+3618C>G) c.1623C>G (p.Cys541Trp) n.3174C>G | |
13 | g.51946389G= | CA2091566180 | ATP7B | c.*788C= (n.*788C=) c.*1699C= (n.*1699C=) c.2334C= (p.Cys778=) c.2955C= (p.Cys985=) c.2622C= (p.Cys874=) c.2703C= (p.Cys901=) c.2721C= (p.Cys907=) n.1102C= n.3318C= c.1890C= (p.Cys630=) c.1665C= (p.Cys555=) c.2866-2098C= (n.2866-2098C=) n.175C= c.916C= c.*56C= (n.*56C=) n.3699C= n.2300C= c.2811C= (p.Cys937=) n.301C= c.2859C= (p.Cys953=) c.2919C= (p.Cys973=) c.2469C= (p.Cys823=) c.771C= (p.Cys257=) c.2820C= (p.Cys940=) c.2541C= (p.Cys847=) c.2730+3618C= (n.2730+3618C=) c.1623C= (p.Cys541=) n.3174C= | |
13 | g.51946389G>T | CA388032288 | ATP7B | c.*788C>A (n.*788C>A) c.*1699C>A (n.*1699C>A) c.2334C>A (p.Cys778Ter) c.2955C>A (p.Cys985Ter) c.2622C>A (p.Cys874Ter) c.2703C>A (p.Cys901Ter) c.2721C>A (p.Cys907Ter) n.1102C>A n.3318C>A c.1890C>A (p.Cys630Ter) c.1665C>A (p.Cys555Ter) c.2866-2098C>A (n.2866-2098C>A) n.175C>A c.916C>A c.*56C>A (n.*56C>A) n.3699C>A n.2300C>A c.2811C>A (p.Cys937Ter) n.301C>A c.2859C>A (p.Cys953Ter) c.2919C>A (p.Cys973Ter) c.2469C>A (p.Cys823Ter) c.771C>A (p.Cys257Ter) c.2820C>A (p.Cys940Ter) c.2541C>A (p.Cys847Ter) c.2730+3618C>A (n.2730+3618C>A) c.1623C>A (p.Cys541Ter) n.3174C>A | |
13 | g.51946390C>A | CA388032294 | ATP7B | c.*787G>T (n.*787G>T) c.*1698G>T (n.*1698G>T) c.2333G>T (p.Cys778Phe) c.2954G>T (p.Cys985Phe) c.2621G>T (p.Cys874Phe) c.2702G>T (p.Cys901Phe) c.2720G>T (p.Cys907Phe) n.1101G>T n.3317G>T c.1889G>T (p.Cys630Phe) c.1664G>T (p.Cys555Phe) c.2866-2099G>T (n.2866-2099G>T) n.174G>T c.915G>T c.*55G>T (n.*55G>T) n.3698G>T n.2299G>T c.2810G>T (p.Cys937Phe) n.300G>T c.2858G>T (p.Cys953Phe) c.2918G>T (p.Cys973Phe) c.2468G>T (p.Cys823Phe) c.770G>T (p.Cys257Phe) c.2819G>T (p.Cys940Phe) c.2540G>T (p.Cys847Phe) c.2730+3617G>T (n.2730+3617G>T) c.1622G>T (p.Cys541Phe) n.3173G>T | COSMIC |
13 | g.51946390C>G | CA388032290 | ATP7B | c.*787G>C (n.*787G>C) c.*1698G>C (n.*1698G>C) c.2333G>C (p.Cys778Ser) c.2954G>C (p.Cys985Ser) c.2621G>C (p.Cys874Ser) c.2702G>C (p.Cys901Ser) c.2720G>C (p.Cys907Ser) n.1101G>C n.3317G>C c.1889G>C (p.Cys630Ser) c.1664G>C (p.Cys555Ser) c.2866-2099G>C (n.2866-2099G>C) n.174G>C c.915G>C c.*55G>C (n.*55G>C) n.3698G>C n.2299G>C c.2810G>C (p.Cys937Ser) n.300G>C c.2858G>C (p.Cys953Ser) c.2918G>C (p.Cys973Ser) c.2468G>C (p.Cys823Ser) c.770G>C (p.Cys257Ser) c.2819G>C (p.Cys940Ser) c.2540G>C (p.Cys847Ser) c.2730+3617G>C (n.2730+3617G>C) c.1622G>C (p.Cys541Ser) n.3173G>C | |
13 | g.51946390C>T | CA388032292 | ATP7B | c.*787G>A (n.*787G>A) c.*1698G>A (n.*1698G>A) c.2333G>A (p.Cys778Tyr) c.2954G>A (p.Cys985Tyr) c.2621G>A (p.Cys874Tyr) c.2702G>A (p.Cys901Tyr) c.2720G>A (p.Cys907Tyr) n.1101G>A n.3317G>A c.1889G>A (p.Cys630Tyr) c.1664G>A (p.Cys555Tyr) c.2866-2099G>A (n.2866-2099G>A) n.174G>A c.915G>A c.*55G>A (n.*55G>A) n.3698G>A n.2299G>A c.2810G>A (p.Cys937Tyr) n.300G>A c.2858G>A (p.Cys953Tyr) c.2918G>A (p.Cys973Tyr) c.2468G>A (p.Cys823Tyr) c.770G>A (p.Cys257Tyr) c.2819G>A (p.Cys940Tyr) c.2540G>A (p.Cys847Tyr) c.2730+3617G>A (n.2730+3617G>A) c.1622G>A (p.Cys541Tyr) n.3173G>A | |
13 | g.51946390_51946391delinsCA | CA2091566181 | ATP7B | c.*786_*787delinsTG (n.*786_*787delinsTG) c.*1697_*1698delinsTG (n.*1697_*1698delinsTG) c.2332_2333delinsTG (p.Cys778=) c.2953_2954delinsTG (p.Cys985=) c.2620_2621delinsTG (p.Cys874=) c.2701_2702delinsTG (p.Cys901=) c.2719_2720delinsTG (p.Cys907=) n.1100_1101delinsTG n.3316_3317delinsTG c.1888_1889delinsTG (p.Cys630=) c.1663_1664delinsTG (p.Cys555=) c.2866-2100_2866-2099delinsTG (n.2866-2100_2866-2099delinsTG) n.173_174delinsTG c.914_915delinsTG c.*54_*55delinsTG (n.*54_*55delinsTG) n.3697_3698delinsTG n.2298_2299delinsTG c.2809_2810delinsTG (p.Cys937=) n.299_300delinsTG c.2857_2858delinsTG (p.Cys953=) c.2917_2918delinsTG (p.Cys973=) c.2467_2468delinsTG (p.Cys823=) c.769_770delinsTG (p.Cys257=) c.2818_2819delinsTG (p.Cys940=) c.2539_2540delinsTG (p.Cys847=) c.2730+3616_2730+3617delinsTG (n.2730+3616_2730+3617delinsTG) c.1621_1622delinsTG (p.Cys541=) n.3172_3173delinsTG | |
13 | g.51946391del | CA1139663305 | ATP7B | c.*786del (n.*786del) c.*1697del (n.*1697del) c.2332del (p.Cys778AlafsTer?) c.2953del (p.Cys985AlafsTer?) c.2620del (p.Cys874AlafsTer?) c.2701del (p.Cys901AlafsTer?) c.2719del (p.Cys907AlafsTer?) n.1100del n.3316del c.1888del (p.Cys630AlafsTer?) c.1663del (p.Cys555AlafsTer?) c.2866-2100del (n.2866-2100del) n.173del c.914del c.*54del (n.*54del) n.3697del n.2298del c.2809del (p.Cys937AlafsTer?) n.299del c.2857del (p.Cys953AlafsTer?) c.2917del (p.Cys973AlafsTer?) c.2467del (p.Cys823AlafsTer?) c.769del (p.Cys257AlafsTer?) c.2818del (p.Cys940AlafsTer?) c.2539del (p.Cys847AlafsTer?) c.2730+3616del (n.2730+3616del) c.1621del (p.Cys541AlafsTer?) n.3172del | ClinVar dbSNP |
13 | g.51946391A= | CA2091566182 | ATP7B | c.*786T= (n.*786T=) c.*1697T= (n.*1697T=) c.2332T= (p.Cys778=) c.2953T= (p.Cys985=) c.2620T= (p.Cys874=) c.2701T= (p.Cys901=) c.2719T= (p.Cys907=) n.1100T= n.3316T= c.1888T= (p.Cys630=) c.1663T= (p.Cys555=) c.2866-2100T= (n.2866-2100T=) n.173T= c.914T= c.*54T= (n.*54T=) n.3697T= n.2298T= c.2809T= (p.Cys937=) n.299T= c.2857T= (p.Cys953=) c.2917T= (p.Cys973=) c.2467T= (p.Cys823=) c.769T= (p.Cys257=) c.2818T= (p.Cys940=) c.2539T= (p.Cys847=) c.2730+3616T= (n.2730+3616T=) c.1621T= (p.Cys541=) n.3172T= | |
13 | g.51946391A>C | CA388032295 | ATP7B | c.*786T>G (n.*786T>G) c.*1697T>G (n.*1697T>G) c.2332T>G (p.Cys778Gly) c.2953T>G (p.Cys985Gly) c.2620T>G (p.Cys874Gly) c.2701T>G (p.Cys901Gly) c.2719T>G (p.Cys907Gly) n.1100T>G n.3316T>G c.1888T>G (p.Cys630Gly) c.1663T>G (p.Cys555Gly) c.2866-2100T>G (n.2866-2100T>G) n.173T>G c.914T>G c.*54T>G (n.*54T>G) n.3697T>G n.2298T>G c.2809T>G (p.Cys937Gly) n.299T>G c.2857T>G (p.Cys953Gly) c.2917T>G (p.Cys973Gly) c.2467T>G (p.Cys823Gly) c.769T>G (p.Cys257Gly) c.2818T>G (p.Cys940Gly) c.2539T>G (p.Cys847Gly) c.2730+3616T>G (n.2730+3616T>G) c.1621T>G (p.Cys541Gly) n.3172T>G | |
13 | g.51946391A>G | CA260132 | ATP7B | c.*786T>C (n.*786T>C) c.*1697T>C (n.*1697T>C) c.2332T>C (p.Cys778Arg) c.2953T>C (p.Cys985Arg) c.2620T>C (p.Cys874Arg) c.2701T>C (p.Cys901Arg) c.2719T>C (p.Cys907Arg) n.1100T>C n.3316T>C c.1888T>C (p.Cys630Arg) c.1663T>C (p.Cys555Arg) c.2866-2100T>C (n.2866-2100T>C) n.173T>C c.914T>C c.*54T>C (n.*54T>C) n.3697T>C n.2298T>C c.2809T>C (p.Cys937Arg) n.299T>C c.2857T>C (p.Cys953Arg) c.2917T>C (p.Cys973Arg) c.2467T>C (p.Cys823Arg) c.769T>C (p.Cys257Arg) c.2818T>C (p.Cys940Arg) c.2539T>C (p.Cys847Arg) c.2730+3616T>C (n.2730+3616T>C) c.1621T>C (p.Cys541Arg) n.3172T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946391A>T | CA388032296 | ATP7B | c.*786T>A (n.*786T>A) c.*1697T>A (n.*1697T>A) c.2332T>A (p.Cys778Ser) c.2953T>A (p.Cys985Ser) c.2620T>A (p.Cys874Ser) c.2701T>A (p.Cys901Ser) c.2719T>A (p.Cys907Ser) n.1100T>A n.3316T>A c.1888T>A (p.Cys630Ser) c.1663T>A (p.Cys555Ser) c.2866-2100T>A (n.2866-2100T>A) n.173T>A c.914T>A c.*54T>A (n.*54T>A) n.3697T>A n.2298T>A c.2809T>A (p.Cys937Ser) n.299T>A c.2857T>A (p.Cys953Ser) c.2917T>A (p.Cys973Ser) c.2467T>A (p.Cys823Ser) c.769T>A (p.Cys257Ser) c.2818T>A (p.Cys940Ser) c.2539T>A (p.Cys847Ser) c.2730+3616T>A (n.2730+3616T>A) c.1621T>A (p.Cys541Ser) n.3172T>A | |
13 | g.51946391_51946392delinsAG | CA2091566183 | ATP7B | c.*785_*786delinsCT (n.*785_*786delinsCT) c.*1696_*1697delinsCT (n.*1696_*1697delinsCT) c.2331_2332delinsCT (p.Pro777=) c.2952_2953delinsCT (p.Pro984=) c.2619_2620delinsCT (p.Pro873=) c.2700_2701delinsCT (p.Pro900=) c.2718_2719delinsCT (p.Pro906=) n.1099_1100delinsCT n.3315_3316delinsCT c.1887_1888delinsCT (p.Pro629=) c.1662_1663delinsCT (p.Pro554=) c.2866-2101_2866-2100delinsCT (n.2866-2101_2866-2100delinsCT) n.172_173delinsCT c.913_914delinsCT c.*53_*54delinsCT (n.*53_*54delinsCT) n.3696_3697delinsCT n.2297_2298delinsCT c.2808_2809delinsCT (p.Pro936=) n.298_299delinsCT c.2856_2857delinsCT (p.Pro952=) c.2916_2917delinsCT (p.Pro972=) c.2466_2467delinsCT (p.Pro822=) c.768_769delinsCT (p.Pro256=) c.2817_2818delinsCT (p.Pro939=) c.2538_2539delinsCT (p.Pro846=) c.2730+3615_2730+3616delinsCT (n.2730+3615_2730+3616delinsCT) c.1620_1621delinsCT (p.Pro540=) n.3171_3172delinsCT | |
13 | g.51946392G>A | CA483894960 | ATP7B | c.*785C>T (n.*785C>T) c.*1696C>T (n.*1696C>T) c.2331C>T (p.Pro777=) c.2952C>T (p.Pro984=) c.2619C>T (p.Pro873=) c.2700C>T (p.Pro900=) c.2718C>T (p.Pro906=) n.1099C>T n.3315C>T c.1887C>T (p.Pro629=) c.1662C>T (p.Pro554=) c.2866-2101C>T (n.2866-2101C>T) n.172C>T c.913C>T c.*53C>T (n.*53C>T) n.3696C>T n.2297C>T c.2808C>T (p.Pro936=) n.298C>T c.2856C>T (p.Pro952=) c.2916C>T (p.Pro972=) c.2466C>T (p.Pro822=) c.768C>T (p.Pro256=) c.2817C>T (p.Pro939=) c.2538C>T (p.Pro846=) c.2730+3615C>T (n.2730+3615C>T) c.1620C>T (p.Pro540=) n.3171C>T | ClinVar dbSNP |
13 | g.51946392G>C | CA483894961 | ATP7B | c.*785C>G (n.*785C>G) c.*1696C>G (n.*1696C>G) c.2331C>G (p.Pro777=) c.2952C>G (p.Pro984=) c.2619C>G (p.Pro873=) c.2700C>G (p.Pro900=) c.2718C>G (p.Pro906=) n.1099C>G n.3315C>G c.1887C>G (p.Pro629=) c.1662C>G (p.Pro554=) c.2866-2101C>G (n.2866-2101C>G) n.172C>G c.913C>G c.*53C>G (n.*53C>G) n.3696C>G n.2297C>G c.2808C>G (p.Pro936=) n.298C>G c.2856C>G (p.Pro952=) c.2916C>G (p.Pro972=) c.2466C>G (p.Pro822=) c.768C>G (p.Pro256=) c.2817C>G (p.Pro939=) c.2538C>G (p.Pro846=) c.2730+3615C>G (n.2730+3615C>G) c.1620C>G (p.Pro540=) n.3171C>G | gnomAD v4 |
13 | g.51946392G= | CA2091566184 | ATP7B | c.*785C= (n.*785C=) c.*1696C= (n.*1696C=) c.2331C= (p.Pro777=) c.2952C= (p.Pro984=) c.2619C= (p.Pro873=) c.2700C= (p.Pro900=) c.2718C= (p.Pro906=) n.1099C= n.3315C= c.1887C= (p.Pro629=) c.1662C= (p.Pro554=) c.2866-2101C= (n.2866-2101C=) n.172C= c.913C= c.*53C= (n.*53C=) n.3696C= n.2297C= c.2808C= (p.Pro936=) n.298C= c.2856C= (p.Pro952=) c.2916C= (p.Pro972=) c.2466C= (p.Pro822=) c.768C= (p.Pro256=) c.2817C= (p.Pro939=) c.2538C= (p.Pro846=) c.2730+3615C= (n.2730+3615C=) c.1620C= (p.Pro540=) n.3171C= | |
13 | g.51946392G>T | CA483894962 | ATP7B | c.*785C>A (n.*785C>A) c.*1696C>A (n.*1696C>A) c.2331C>A (p.Pro777=) c.2952C>A (p.Pro984=) c.2619C>A (p.Pro873=) c.2700C>A (p.Pro900=) c.2718C>A (p.Pro906=) n.1099C>A n.3315C>A c.1887C>A (p.Pro629=) c.1662C>A (p.Pro554=) c.2866-2101C>A (n.2866-2101C>A) n.172C>A c.913C>A c.*53C>A (n.*53C>A) n.3696C>A n.2297C>A c.2808C>A (p.Pro936=) n.298C>A c.2856C>A (p.Pro952=) c.2916C>A (p.Pro972=) c.2466C>A (p.Pro822=) c.768C>A (p.Pro256=) c.2817C>A (p.Pro939=) c.2538C>A (p.Pro846=) c.2730+3615C>A (n.2730+3615C>A) c.1620C>A (p.Pro540=) n.3171C>A | |
13 | g.51946395dup | CA2840695588 | ATP7B | c.*785dup (n.*785dup) c.*1696dup (n.*1696dup) c.2331dup (p.Cys778LeufsTer?) c.2952dup (p.Cys985LeufsTer?) c.2619dup (p.Cys874LeufsTer?) c.2700dup (p.Cys901LeufsTer?) c.2718dup (p.Cys907LeufsTer?) n.1099dup n.3315dup c.1887dup (p.Cys630LeufsTer?) c.1662dup (p.Cys555LeufsTer?) c.2866-2101dup (n.2866-2101dup) n.172dup c.913dup c.*53dup (n.*53dup) n.3696dup n.2297dup c.2808dup (p.Cys937LeufsTer?) n.298dup c.2856dup (p.Cys953LeufsTer?) c.2916dup (p.Cys973LeufsTer?) c.2466dup (p.Cys823LeufsTer?) c.768dup (p.Cys257LeufsTer?) c.2817dup (p.Cys940LeufsTer?) c.2538dup (p.Cys847LeufsTer?) c.2730+3615dup (n.2730+3615dup) c.1620dup (p.Cys541LeufsTer?) n.3171dup | |
13 | g.51946395del | CA1139663306 | ATP7B | c.*785del (n.*785del) c.*1696del (n.*1696del) c.2331del (p.Cys778AlafsTer?) c.2952del (p.Cys985AlafsTer?) c.2619del (p.Cys874AlafsTer?) c.2700del (p.Cys901AlafsTer?) c.2718del (p.Cys907AlafsTer?) n.1099del n.3315del c.1887del (p.Cys630AlafsTer?) c.1662del (p.Cys555AlafsTer?) c.2866-2101del (n.2866-2101del) n.172del c.913del c.*53del (n.*53del) n.3696del n.2297del c.2808del (p.Cys937AlafsTer?) n.298del c.2856del (p.Cys953AlafsTer?) c.2916del (p.Cys973AlafsTer?) c.2466del (p.Cys823AlafsTer?) c.768del (p.Cys257AlafsTer?) c.2817del (p.Cys940AlafsTer?) c.2538del (p.Cys847AlafsTer?) c.2730+3615del (n.2730+3615del) c.1620del (p.Cys541AlafsTer?) n.3171del | ClinVar dbSNP |
13 | g.51946393G>A | CA388032298 | ATP7B | c.*784C>T (n.*784C>T) c.*1695C>T (n.*1695C>T) c.2330C>T (p.Pro777Leu) c.2951C>T (p.Pro984Leu) c.2618C>T (p.Pro873Leu) c.2699C>T (p.Pro900Leu) c.2717C>T (p.Pro906Leu) n.1098C>T n.3314C>T c.1886C>T (p.Pro629Leu) c.1661C>T (p.Pro554Leu) c.2866-2102C>T (n.2866-2102C>T) n.171C>T c.912C>T c.*52C>T (n.*52C>T) n.3695C>T n.2296C>T c.2807C>T (p.Pro936Leu) n.297C>T c.2855C>T (p.Pro952Leu) c.2915C>T (p.Pro972Leu) c.2465C>T (p.Pro822Leu) c.767C>T (p.Pro256Leu) c.2816C>T (p.Pro939Leu) c.2537C>T (p.Pro846Leu) c.2730+3614C>T (n.2730+3614C>T) c.1619C>T (p.Pro540Leu) n.3170C>T | gnomAD v4 COSMIC |
13 | g.51946393G>C | CA388032300 | ATP7B | c.*784C>G (n.*784C>G) c.*1695C>G (n.*1695C>G) c.2330C>G (p.Pro777Arg) c.2951C>G (p.Pro984Arg) c.2618C>G (p.Pro873Arg) c.2699C>G (p.Pro900Arg) c.2717C>G (p.Pro906Arg) n.1098C>G n.3314C>G c.1886C>G (p.Pro629Arg) c.1661C>G (p.Pro554Arg) c.2866-2102C>G (n.2866-2102C>G) n.171C>G c.912C>G c.*52C>G (n.*52C>G) n.3695C>G n.2296C>G c.2807C>G (p.Pro936Arg) n.297C>G c.2855C>G (p.Pro952Arg) c.2915C>G (p.Pro972Arg) c.2465C>G (p.Pro822Arg) c.767C>G (p.Pro256Arg) c.2816C>G (p.Pro939Arg) c.2537C>G (p.Pro846Arg) c.2730+3614C>G (n.2730+3614C>G) c.1619C>G (p.Pro540Arg) n.3170C>G | |
13 | g.51946393G>T | CA388032301 | ATP7B | c.*784C>A (n.*784C>A) c.*1695C>A (n.*1695C>A) c.2330C>A (p.Pro777His) c.2951C>A (p.Pro984His) c.2618C>A (p.Pro873His) c.2699C>A (p.Pro900His) c.2717C>A (p.Pro906His) n.1098C>A n.3314C>A c.1886C>A (p.Pro629His) c.1661C>A (p.Pro554His) c.2866-2102C>A (n.2866-2102C>A) n.171C>A c.912C>A c.*52C>A (n.*52C>A) n.3695C>A n.2296C>A c.2807C>A (p.Pro936His) n.297C>A c.2855C>A (p.Pro952His) c.2915C>A (p.Pro972His) c.2465C>A (p.Pro822His) c.767C>A (p.Pro256His) c.2816C>A (p.Pro939His) c.2537C>A (p.Pro846His) c.2730+3614C>A (n.2730+3614C>A) c.1619C>A (p.Pro540His) n.3170C>A | COSMIC |
13 | g.51946394G>A | CA388032305 | ATP7B | c.*783C>T (n.*783C>T) c.*1694C>T (n.*1694C>T) c.2329C>T (p.Pro777Ser) c.2950C>T (p.Pro984Ser) c.2617C>T (p.Pro873Ser) c.2698C>T (p.Pro900Ser) c.2716C>T (p.Pro906Ser) n.1097C>T n.3313C>T c.1885C>T (p.Pro629Ser) c.1660C>T (p.Pro554Ser) c.2866-2103C>T (n.2866-2103C>T) n.170C>T c.911C>T c.*51C>T (n.*51C>T) n.3694C>T n.2295C>T c.2806C>T (p.Pro936Ser) n.296C>T c.2854C>T (p.Pro952Ser) c.2914C>T (p.Pro972Ser) c.2464C>T (p.Pro822Ser) c.766C>T (p.Pro256Ser) c.2815C>T (p.Pro939Ser) c.2536C>T (p.Pro846Ser) c.2730+3613C>T (n.2730+3613C>T) c.1618C>T (p.Pro540Ser) n.3169C>T | |
13 | g.51946394G>C | CA351341 | ATP7B | c.*783C>G (n.*783C>G) c.*1694C>G (n.*1694C>G) c.2329C>G (p.Pro777Ala) c.2950C>G (p.Pro984Ala) c.2617C>G (p.Pro873Ala) c.2698C>G (p.Pro900Ala) c.2716C>G (p.Pro906Ala) n.1097C>G n.3313C>G c.1885C>G (p.Pro629Ala) c.1660C>G (p.Pro554Ala) c.2866-2103C>G (n.2866-2103C>G) n.170C>G c.911C>G c.*51C>G (n.*51C>G) n.3694C>G n.2295C>G c.2806C>G (p.Pro936Ala) n.296C>G c.2854C>G (p.Pro952Ala) c.2914C>G (p.Pro972Ala) c.2464C>G (p.Pro822Ala) c.766C>G (p.Pro256Ala) c.2815C>G (p.Pro939Ala) c.2536C>G (p.Pro846Ala) c.2730+3613C>G (n.2730+3613C>G) c.1618C>G (p.Pro540Ala) n.3169C>G | dbSNP |
13 | g.51946394G= | CA2091566185 | ATP7B | c.*783C= (n.*783C=) c.*1694C= (n.*1694C=) c.2329C= (p.Pro777=) c.2950C= (p.Pro984=) c.2617C= (p.Pro873=) c.2698C= (p.Pro900=) c.2716C= (p.Pro906=) n.1097C= n.3313C= c.1885C= (p.Pro629=) c.1660C= (p.Pro554=) c.2866-2103C= (n.2866-2103C=) n.170C= c.911C= c.*51C= (n.*51C=) n.3694C= n.2295C= c.2806C= (p.Pro936=) n.296C= c.2854C= (p.Pro952=) c.2914C= (p.Pro972=) c.2464C= (p.Pro822=) c.766C= (p.Pro256=) c.2815C= (p.Pro939=) c.2536C= (p.Pro846=) c.2730+3613C= (n.2730+3613C=) c.1618C= (p.Pro540=) n.3169C= | |
13 | g.51946394G>T | CA388032303 | ATP7B | c.*783C>A (n.*783C>A) c.*1694C>A (n.*1694C>A) c.2329C>A (p.Pro777Thr) c.2950C>A (p.Pro984Thr) c.2617C>A (p.Pro873Thr) c.2698C>A (p.Pro900Thr) c.2716C>A (p.Pro906Thr) n.1097C>A n.3313C>A c.1885C>A (p.Pro629Thr) c.1660C>A (p.Pro554Thr) c.2866-2103C>A (n.2866-2103C>A) n.170C>A c.911C>A c.*51C>A (n.*51C>A) n.3694C>A n.2295C>A c.2806C>A (p.Pro936Thr) n.296C>A c.2854C>A (p.Pro952Thr) c.2914C>A (p.Pro972Thr) c.2464C>A (p.Pro822Thr) c.766C>A (p.Pro256Thr) c.2815C>A (p.Pro939Thr) c.2536C>A (p.Pro846Thr) c.2730+3613C>A (n.2730+3613C>A) c.1618C>A (p.Pro540Thr) n.3169C>A | |
13 | g.51946398_51946401del | CA2580614732 | ATP7B | c.*780_*783del (n.*780_*783del) c.*1691_*1694del (n.*1691_*1694del) c.2326_2329del (p.Cys776ProfsTer?) c.2947_2950del (p.Cys983ProfsTer?) c.2614_2617del (p.Cys872ProfsTer?) c.2695_2698del (p.Cys899ProfsTer?) c.2713_2716del (p.Cys905ProfsTer?) n.1094_1097del n.3310_3313del c.1882_1885del (p.Cys628ProfsTer?) c.1657_1660del (p.Cys553ProfsTer?) c.2866-2106_2866-2103del (n.2866-2106_2866-2103del) n.167_170del c.908_911del c.*48_*51del (n.*48_*51del) n.3691_3694del n.2292_2295del c.2803_2806del (p.Cys935ProfsTer?) n.293_296del c.2851_2854del (p.Cys951ProfsTer?) c.2911_2914del (p.Cys971ProfsTer?) c.2461_2464del (p.Cys821ProfsTer?) c.763_766del (p.Cys255ProfsTer?) c.2812_2815del (p.Cys938ProfsTer?) c.2533_2536del (p.Cys845ProfsTer?) c.2730+3610_2730+3613del (n.2730+3610_2730+3613del) c.1615_1618del (p.Cys539ProfsTer?) n.3166_3169del | ClinVar |
13 | g.51946395G>A | CA483894964 | ATP7B | c.*782C>T (n.*782C>T) c.*1693C>T (n.*1693C>T) c.2328C>T (p.Cys776=) c.2949C>T (p.Cys983=) c.2616C>T (p.Cys872=) c.2697C>T (p.Cys899=) c.2715C>T (p.Cys905=) n.1096C>T n.3312C>T c.1884C>T (p.Cys628=) c.1659C>T (p.Cys553=) c.2866-2104C>T (n.2866-2104C>T) n.169C>T c.910C>T c.*50C>T (n.*50C>T) n.3693C>T n.2294C>T c.2805C>T (p.Cys935=) n.295C>T c.2853C>T (p.Cys951=) c.2913C>T (p.Cys971=) c.2463C>T (p.Cys821=) c.765C>T (p.Cys255=) c.2814C>T (p.Cys938=) c.2535C>T (p.Cys845=) c.2730+3612C>T (n.2730+3612C>T) c.1617C>T (p.Cys539=) n.3168C>T | gnomAD v4 |
13 | g.51946395G>C | CA388032306 | ATP7B | c.*782C>G (n.*782C>G) c.*1693C>G (n.*1693C>G) c.2328C>G (p.Cys776Trp) c.2949C>G (p.Cys983Trp) c.2616C>G (p.Cys872Trp) c.2697C>G (p.Cys899Trp) c.2715C>G (p.Cys905Trp) n.1096C>G n.3312C>G c.1884C>G (p.Cys628Trp) c.1659C>G (p.Cys553Trp) c.2866-2104C>G (n.2866-2104C>G) n.169C>G c.910C>G c.*50C>G (n.*50C>G) n.3693C>G n.2294C>G c.2805C>G (p.Cys935Trp) n.295C>G c.2853C>G (p.Cys951Trp) c.2913C>G (p.Cys971Trp) c.2463C>G (p.Cys821Trp) c.765C>G (p.Cys255Trp) c.2814C>G (p.Cys938Trp) c.2535C>G (p.Cys845Trp) c.2730+3612C>G (n.2730+3612C>G) c.1617C>G (p.Cys539Trp) n.3168C>G | |
13 | g.51946395G= | CA2091566186 | ATP7B | c.*782C= (n.*782C=) c.*1693C= (n.*1693C=) c.2328C= (p.Cys776=) c.2949C= (p.Cys983=) c.2616C= (p.Cys872=) c.2697C= (p.Cys899=) c.2715C= (p.Cys905=) n.1096C= n.3312C= c.1884C= (p.Cys628=) c.1659C= (p.Cys553=) c.2866-2104C= (n.2866-2104C=) n.169C= c.910C= c.*50C= (n.*50C=) n.3693C= n.2294C= c.2805C= (p.Cys935=) n.295C= c.2853C= (p.Cys951=) c.2913C= (p.Cys971=) c.2463C= (p.Cys821=) c.765C= (p.Cys255=) c.2814C= (p.Cys938=) c.2535C= (p.Cys845=) c.2730+3612C= (n.2730+3612C=) c.1617C= (p.Cys539=) n.3168C= | |
13 | g.51946395G>T | CA388032307 | ATP7B | c.*782C>A (n.*782C>A) c.*1693C>A (n.*1693C>A) c.2328C>A (p.Cys776Ter) c.2949C>A (p.Cys983Ter) c.2616C>A (p.Cys872Ter) c.2697C>A (p.Cys899Ter) c.2715C>A (p.Cys905Ter) n.1096C>A n.3312C>A c.1884C>A (p.Cys628Ter) c.1659C>A (p.Cys553Ter) c.2866-2104C>A (n.2866-2104C>A) n.169C>A c.910C>A c.*50C>A (n.*50C>A) n.3693C>A n.2294C>A c.2805C>A (p.Cys935Ter) n.295C>A c.2853C>A (p.Cys951Ter) c.2913C>A (p.Cys971Ter) c.2463C>A (p.Cys821Ter) c.765C>A (p.Cys255Ter) c.2814C>A (p.Cys938Ter) c.2535C>A (p.Cys845Ter) c.2730+3612C>A (n.2730+3612C>A) c.1617C>A (p.Cys539Ter) n.3168C>A | ClinVar dbSNP |
13 | g.51946396C>A | CA388032309 | ATP7B | c.*781G>T (n.*781G>T) c.*1692G>T (n.*1692G>T) c.2327G>T (p.Cys776Phe) c.2948G>T (p.Cys983Phe) c.2615G>T (p.Cys872Phe) c.2696G>T (p.Cys899Phe) c.2714G>T (p.Cys905Phe) n.1095G>T n.3311G>T c.1883G>T (p.Cys628Phe) c.1658G>T (p.Cys553Phe) c.2866-2105G>T (n.2866-2105G>T) n.168G>T c.909G>T c.*49G>T (n.*49G>T) n.3692G>T n.2293G>T c.2804G>T (p.Cys935Phe) n.294G>T c.2852G>T (p.Cys951Phe) c.2912G>T (p.Cys971Phe) c.2462G>T (p.Cys821Phe) c.764G>T (p.Cys255Phe) c.2813G>T (p.Cys938Phe) c.2534G>T (p.Cys845Phe) c.2730+3611G>T (n.2730+3611G>T) c.1616G>T (p.Cys539Phe) n.3167G>T | |
13 | g.51946396C>G | CA388032310 | ATP7B | c.*781G>C (n.*781G>C) c.*1692G>C (n.*1692G>C) c.2327G>C (p.Cys776Ser) c.2948G>C (p.Cys983Ser) c.2615G>C (p.Cys872Ser) c.2696G>C (p.Cys899Ser) c.2714G>C (p.Cys905Ser) n.1095G>C n.3311G>C c.1883G>C (p.Cys628Ser) c.1658G>C (p.Cys553Ser) c.2866-2105G>C (n.2866-2105G>C) n.168G>C c.909G>C c.*49G>C (n.*49G>C) n.3692G>C n.2293G>C c.2804G>C (p.Cys935Ser) n.294G>C c.2852G>C (p.Cys951Ser) c.2912G>C (p.Cys971Ser) c.2462G>C (p.Cys821Ser) c.764G>C (p.Cys255Ser) c.2813G>C (p.Cys938Ser) c.2534G>C (p.Cys845Ser) c.2730+3611G>C (n.2730+3611G>C) c.1616G>C (p.Cys539Ser) n.3167G>C | |
13 | g.51946396C>T | CA388032312 | ATP7B | c.*781G>A (n.*781G>A) c.*1692G>A (n.*1692G>A) c.2327G>A (p.Cys776Tyr) c.2948G>A (p.Cys983Tyr) c.2615G>A (p.Cys872Tyr) c.2696G>A (p.Cys899Tyr) c.2714G>A (p.Cys905Tyr) n.1095G>A n.3311G>A c.1883G>A (p.Cys628Tyr) c.1658G>A (p.Cys553Tyr) c.2866-2105G>A (n.2866-2105G>A) n.168G>A c.909G>A c.*49G>A (n.*49G>A) n.3692G>A n.2293G>A c.2804G>A (p.Cys935Tyr) n.294G>A c.2852G>A (p.Cys951Tyr) c.2912G>A (p.Cys971Tyr) c.2462G>A (p.Cys821Tyr) c.764G>A (p.Cys255Tyr) c.2813G>A (p.Cys938Tyr) c.2534G>A (p.Cys845Tyr) c.2730+3611G>A (n.2730+3611G>A) c.1616G>A (p.Cys539Tyr) n.3167G>A | |
13 | g.51946397A>C | CA388032313 | ATP7B | c.*780T>G (n.*780T>G) c.*1691T>G (n.*1691T>G) c.2326T>G (p.Cys776Gly) c.2947T>G (p.Cys983Gly) c.2614T>G (p.Cys872Gly) c.2695T>G (p.Cys899Gly) c.2713T>G (p.Cys905Gly) n.1094T>G n.3310T>G c.1882T>G (p.Cys628Gly) c.1657T>G (p.Cys553Gly) c.2866-2106T>G (n.2866-2106T>G) n.167T>G c.908T>G c.*48T>G (n.*48T>G) n.3691T>G n.2292T>G c.2803T>G (p.Cys935Gly) n.293T>G c.2851T>G (p.Cys951Gly) c.2911T>G (p.Cys971Gly) c.2461T>G (p.Cys821Gly) c.763T>G (p.Cys255Gly) c.2812T>G (p.Cys938Gly) c.2533T>G (p.Cys845Gly) c.2730+3610T>G (n.2730+3610T>G) c.1615T>G (p.Cys539Gly) n.3166T>G | |
13 | g.51946397A>G | CA388032317 | ATP7B | c.*780T>C (n.*780T>C) c.*1691T>C (n.*1691T>C) c.2326T>C (p.Cys776Arg) c.2947T>C (p.Cys983Arg) c.2614T>C (p.Cys872Arg) c.2695T>C (p.Cys899Arg) c.2713T>C (p.Cys905Arg) n.1094T>C n.3310T>C c.1882T>C (p.Cys628Arg) c.1657T>C (p.Cys553Arg) c.2866-2106T>C (n.2866-2106T>C) n.167T>C c.908T>C c.*48T>C (n.*48T>C) n.3691T>C n.2292T>C c.2803T>C (p.Cys935Arg) n.293T>C c.2851T>C (p.Cys951Arg) c.2911T>C (p.Cys971Arg) c.2461T>C (p.Cys821Arg) c.763T>C (p.Cys255Arg) c.2812T>C (p.Cys938Arg) c.2533T>C (p.Cys845Arg) c.2730+3610T>C (n.2730+3610T>C) c.1615T>C (p.Cys539Arg) n.3166T>C | |
13 | g.51946397A>T | CA388032315 | ATP7B | c.*780T>A (n.*780T>A) c.*1691T>A (n.*1691T>A) c.2326T>A (p.Cys776Ser) c.2947T>A (p.Cys983Ser) c.2614T>A (p.Cys872Ser) c.2695T>A (p.Cys899Ser) c.2713T>A (p.Cys905Ser) n.1094T>A n.3310T>A c.1882T>A (p.Cys628Ser) c.1657T>A (p.Cys553Ser) c.2866-2106T>A (n.2866-2106T>A) n.167T>A c.908T>A c.*48T>A (n.*48T>A) n.3691T>A n.2292T>A c.2803T>A (p.Cys935Ser) n.293T>A c.2851T>A (p.Cys951Ser) c.2911T>A (p.Cys971Ser) c.2461T>A (p.Cys821Ser) c.763T>A (p.Cys255Ser) c.2812T>A (p.Cys938Ser) c.2533T>A (p.Cys845Ser) c.2730+3610T>A (n.2730+3610T>A) c.1615T>A (p.Cys539Ser) n.3166T>A | dbSNP |
13 | g.51946398G>A | CA483894966 | ATP7B | c.*779C>T (n.*779C>T) c.*1690C>T (n.*1690C>T) c.2325C>T (p.Ala775=) c.2946C>T (p.Ala982=) c.2613C>T (p.Ala871=) c.2694C>T (p.Ala898=) c.2712C>T (p.Ala904=) n.1093C>T n.3309C>T c.1881C>T (p.Ala627=) c.1656C>T (p.Ala552=) c.2866-2107C>T (n.2866-2107C>T) n.166C>T c.907C>T c.*47C>T (n.*47C>T) n.3690C>T n.2291C>T c.2802C>T (p.Ala934=) n.292C>T c.2850C>T (p.Ala950=) c.2910C>T (p.Ala970=) c.2460C>T (p.Ala820=) c.762C>T (p.Ala254=) c.2811C>T (p.Ala937=) c.2532C>T (p.Ala844=) c.2730+3609C>T (n.2730+3609C>T) c.1614C>T (p.Ala538=) n.3165C>T | ClinVar dbSNP |
13 | g.51946398G>C | CA483894968 | ATP7B | c.*779C>G (n.*779C>G) c.*1690C>G (n.*1690C>G) c.2325C>G (p.Ala775=) c.2946C>G (p.Ala982=) c.2613C>G (p.Ala871=) c.2694C>G (p.Ala898=) c.2712C>G (p.Ala904=) n.1093C>G n.3309C>G c.1881C>G (p.Ala627=) c.1656C>G (p.Ala552=) c.2866-2107C>G (n.2866-2107C>G) n.166C>G c.907C>G c.*47C>G (n.*47C>G) n.3690C>G n.2291C>G c.2802C>G (p.Ala934=) n.292C>G c.2850C>G (p.Ala950=) c.2910C>G (p.Ala970=) c.2460C>G (p.Ala820=) c.762C>G (p.Ala254=) c.2811C>G (p.Ala937=) c.2532C>G (p.Ala844=) c.2730+3609C>G (n.2730+3609C>G) c.1614C>G (p.Ala538=) n.3165C>G | |
13 | g.51946398G>T | CA483894967 | ATP7B | c.*779C>A (n.*779C>A) c.*1690C>A (n.*1690C>A) c.2325C>A (p.Ala775=) c.2946C>A (p.Ala982=) c.2613C>A (p.Ala871=) c.2694C>A (p.Ala898=) c.2712C>A (p.Ala904=) n.1093C>A n.3309C>A c.1881C>A (p.Ala627=) c.1656C>A (p.Ala552=) c.2866-2107C>A (n.2866-2107C>A) n.166C>A c.907C>A c.*47C>A (n.*47C>A) n.3690C>A n.2291C>A c.2802C>A (p.Ala934=) n.292C>A c.2850C>A (p.Ala950=) c.2910C>A (p.Ala970=) c.2460C>A (p.Ala820=) c.762C>A (p.Ala254=) c.2811C>A (p.Ala937=) c.2532C>A (p.Ala844=) c.2730+3609C>A (n.2730+3609C>A) c.1614C>A (p.Ala538=) n.3165C>A | |
13 | g.51946399G>A | CA388032318 | ATP7B | c.*778C>T (n.*778C>T) c.*1689C>T (n.*1689C>T) c.2324C>T (p.Ala775Val) c.2945C>T (p.Ala982Val) c.2612C>T (p.Ala871Val) c.2693C>T (p.Ala898Val) c.2711C>T (p.Ala904Val) n.1092C>T n.3308C>T c.1880C>T (p.Ala627Val) c.1655C>T (p.Ala552Val) c.2866-2108C>T (n.2866-2108C>T) n.165C>T c.906C>T c.*46C>T (n.*46C>T) n.3689C>T n.2290C>T c.2801C>T (p.Ala934Val) n.291C>T c.2849C>T (p.Ala950Val) c.2909C>T (p.Ala970Val) c.2459C>T (p.Ala820Val) c.761C>T (p.Ala254Val) c.2810C>T (p.Ala937Val) c.2531C>T (p.Ala844Val) c.2730+3608C>T (n.2730+3608C>T) c.1613C>T (p.Ala538Val) n.3164C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.51946399G>C | CA388032320 | ATP7B | c.*778C>G (n.*778C>G) c.*1689C>G (n.*1689C>G) c.2324C>G (p.Ala775Gly) c.2945C>G (p.Ala982Gly) c.2612C>G (p.Ala871Gly) c.2693C>G (p.Ala898Gly) c.2711C>G (p.Ala904Gly) n.1092C>G n.3308C>G c.1880C>G (p.Ala627Gly) c.1655C>G (p.Ala552Gly) c.2866-2108C>G (n.2866-2108C>G) n.165C>G c.906C>G c.*46C>G (n.*46C>G) n.3689C>G n.2290C>G c.2801C>G (p.Ala934Gly) n.291C>G c.2849C>G (p.Ala950Gly) c.2909C>G (p.Ala970Gly) c.2459C>G (p.Ala820Gly) c.761C>G (p.Ala254Gly) c.2810C>G (p.Ala937Gly) c.2531C>G (p.Ala844Gly) c.2730+3608C>G (n.2730+3608C>G) c.1613C>G (p.Ala538Gly) n.3164C>G | |
13 | g.51946399G= | CA2091566187 | ATP7B | c.*778C= (n.*778C=) c.*1689C= (n.*1689C=) c.2324C= (p.Ala775=) c.2945C= (p.Ala982=) c.2612C= (p.Ala871=) c.2693C= (p.Ala898=) c.2711C= (p.Ala904=) n.1092C= n.3308C= c.1880C= (p.Ala627=) c.1655C= (p.Ala552=) c.2866-2108C= (n.2866-2108C=) n.165C= c.906C= c.*46C= (n.*46C=) n.3689C= n.2290C= c.2801C= (p.Ala934=) n.291C= c.2849C= (p.Ala950=) c.2909C= (p.Ala970=) c.2459C= (p.Ala820=) c.761C= (p.Ala254=) c.2810C= (p.Ala937=) c.2531C= (p.Ala844=) c.2730+3608C= (n.2730+3608C=) c.1613C= (p.Ala538=) n.3164C= | |
13 | g.51946399G>T | CA388032322 | ATP7B | c.*778C>A (n.*778C>A) c.*1689C>A (n.*1689C>A) c.2324C>A (p.Ala775Asp) c.2945C>A (p.Ala982Asp) c.2612C>A (p.Ala871Asp) c.2693C>A (p.Ala898Asp) c.2711C>A (p.Ala904Asp) n.1092C>A n.3308C>A c.1880C>A (p.Ala627Asp) c.1655C>A (p.Ala552Asp) c.2866-2108C>A (n.2866-2108C>A) n.165C>A c.906C>A c.*46C>A (n.*46C>A) n.3689C>A n.2290C>A c.2801C>A (p.Ala934Asp) n.291C>A c.2849C>A (p.Ala950Asp) c.2909C>A (p.Ala970Asp) c.2459C>A (p.Ala820Asp) c.761C>A (p.Ala254Asp) c.2810C>A (p.Ala937Asp) c.2531C>A (p.Ala844Asp) c.2730+3608C>A (n.2730+3608C>A) c.1613C>A (p.Ala538Asp) n.3164C>A | |
13 | g.51946400C>A | CA388032324 | ATP7B | c.*777G>T (n.*777G>T) c.*1688G>T (n.*1688G>T) c.2323G>T (p.Ala775Ser) c.2944G>T (p.Ala982Ser) c.2611G>T (p.Ala871Ser) c.2692G>T (p.Ala898Ser) c.2710G>T (p.Ala904Ser) n.1091G>T n.3307G>T c.1879G>T (p.Ala627Ser) c.1654G>T (p.Ala552Ser) c.2866-2109G>T (n.2866-2109G>T) n.164G>T c.905G>T c.*45G>T (n.*45G>T) n.3688G>T n.2289G>T c.2800G>T (p.Ala934Ser) n.290G>T c.2848G>T (p.Ala950Ser) c.2908G>T (p.Ala970Ser) c.2458G>T (p.Ala820Ser) c.760G>T (p.Ala254Ser) c.2809G>T (p.Ala937Ser) c.2530G>T (p.Ala844Ser) c.2730+3607G>T (n.2730+3607G>T) c.1612G>T (p.Ala538Ser) n.3163G>T | |
13 | g.51946400C= | CA2091566188 | ATP7B | c.*777G= (n.*777G=) c.*1688G= (n.*1688G=) c.2323G= (p.Ala775=) c.2944G= (p.Ala982=) c.2611G= (p.Ala871=) c.2692G= (p.Ala898=) c.2710G= (p.Ala904=) n.1091G= n.3307G= c.1879G= (p.Ala627=) c.1654G= (p.Ala552=) c.2866-2109G= (n.2866-2109G=) n.164G= c.905G= c.*45G= (n.*45G=) n.3688G= n.2289G= c.2800G= (p.Ala934=) n.290G= c.2848G= (p.Ala950=) c.2908G= (p.Ala970=) c.2458G= (p.Ala820=) c.760G= (p.Ala254=) c.2809G= (p.Ala937=) c.2530G= (p.Ala844=) c.2730+3607G= (n.2730+3607G=) c.1612G= (p.Ala538=) n.3163G= | |
13 | g.51946400C>G | CA388032326 | ATP7B | c.*777G>C (n.*777G>C) c.*1688G>C (n.*1688G>C) c.2323G>C (p.Ala775Pro) c.2944G>C (p.Ala982Pro) c.2611G>C (p.Ala871Pro) c.2692G>C (p.Ala898Pro) c.2710G>C (p.Ala904Pro) n.1091G>C n.3307G>C c.1879G>C (p.Ala627Pro) c.1654G>C (p.Ala552Pro) c.2866-2109G>C (n.2866-2109G>C) n.164G>C c.905G>C c.*45G>C (n.*45G>C) n.3688G>C n.2289G>C c.2800G>C (p.Ala934Pro) n.290G>C c.2848G>C (p.Ala950Pro) c.2908G>C (p.Ala970Pro) c.2458G>C (p.Ala820Pro) c.760G>C (p.Ala254Pro) c.2809G>C (p.Ala937Pro) c.2530G>C (p.Ala844Pro) c.2730+3607G>C (n.2730+3607G>C) c.1612G>C (p.Ala538Pro) n.3163G>C | |
13 | g.51946400C>T | CA6988856 | ATP7B | c.*777G>A (n.*777G>A) c.*1688G>A (n.*1688G>A) c.2323G>A (p.Ala775Thr) c.2944G>A (p.Ala982Thr) c.2611G>A (p.Ala871Thr) c.2692G>A (p.Ala898Thr) c.2710G>A (p.Ala904Thr) n.1091G>A n.3307G>A c.1879G>A (p.Ala627Thr) c.1654G>A (p.Ala552Thr) c.2866-2109G>A (n.2866-2109G>A) n.164G>A c.905G>A c.*45G>A (n.*45G>A) n.3688G>A n.2289G>A c.2800G>A (p.Ala934Thr) n.290G>A c.2848G>A (p.Ala950Thr) c.2908G>A (p.Ala970Thr) c.2458G>A (p.Ala820Thr) c.760G>A (p.Ala254Thr) c.2809G>A (p.Ala937Thr) c.2530G>A (p.Ala844Thr) c.2730+3607G>A (n.2730+3607G>A) c.1612G>A (p.Ala538Thr) n.3163G>A | dbSNP ExAC |
13 | g.51946401A>C | CA388032328 | ATP7B | c.*776T>G (n.*776T>G) c.*1687T>G (n.*1687T>G) c.2322T>G (p.Ile774Met) c.2943T>G (p.Ile981Met) c.2610T>G (p.Ile870Met) c.2691T>G (p.Ile897Met) c.2709T>G (p.Ile903Met) n.1090T>G n.3306T>G c.1878T>G (p.Ile626Met) c.1653T>G (p.Ile551Met) c.2866-2110T>G (n.2866-2110T>G) n.163T>G c.904T>G c.*44T>G (n.*44T>G) n.3687T>G n.2288T>G c.2799T>G (p.Ile933Met) n.289T>G c.2847T>G (p.Ile949Met) c.2907T>G (p.Ile969Met) c.2457T>G (p.Ile819Met) c.759T>G (p.Ile253Met) c.2808T>G (p.Ile936Met) c.2529T>G (p.Ile843Met) c.2730+3606T>G (n.2730+3606T>G) c.1611T>G (p.Ile537Met) n.3162T>G | |
13 | g.51946401A>G | CA483894970 | ATP7B | c.*776T>C (n.*776T>C) c.*1687T>C (n.*1687T>C) c.2322T>C (p.Ile774=) c.2943T>C (p.Ile981=) c.2610T>C (p.Ile870=) c.2691T>C (p.Ile897=) c.2709T>C (p.Ile903=) n.1090T>C n.3306T>C c.1878T>C (p.Ile626=) c.1653T>C (p.Ile551=) c.2866-2110T>C (n.2866-2110T>C) n.163T>C c.904T>C c.*44T>C (n.*44T>C) n.3687T>C n.2288T>C c.2799T>C (p.Ile933=) n.289T>C c.2847T>C (p.Ile949=) c.2907T>C (p.Ile969=) c.2457T>C (p.Ile819=) c.759T>C (p.Ile253=) c.2808T>C (p.Ile936=) c.2529T>C (p.Ile843=) c.2730+3606T>C (n.2730+3606T>C) c.1611T>C (p.Ile537=) n.3162T>C | dbSNP gnomAD v4 |
13 | g.51946401A>T | CA483894972 | ATP7B | c.*776T>A (n.*776T>A) c.*1687T>A (n.*1687T>A) c.2322T>A (p.Ile774=) c.2943T>A (p.Ile981=) c.2610T>A (p.Ile870=) c.2691T>A (p.Ile897=) c.2709T>A (p.Ile903=) n.1090T>A n.3306T>A c.1878T>A (p.Ile626=) c.1653T>A (p.Ile551=) c.2866-2110T>A (n.2866-2110T>A) n.163T>A c.904T>A c.*44T>A (n.*44T>A) n.3687T>A n.2288T>A c.2799T>A (p.Ile933=) n.289T>A c.2847T>A (p.Ile949=) c.2907T>A (p.Ile969=) c.2457T>A (p.Ile819=) c.759T>A (p.Ile253=) c.2808T>A (p.Ile936=) c.2529T>A (p.Ile843=) c.2730+3606T>A (n.2730+3606T>A) c.1611T>A (p.Ile537=) n.3162T>A | |
13 | g.51946402A>C | CA388032332 | ATP7B | c.*775T>G (n.*775T>G) c.*1686T>G (n.*1686T>G) c.2321T>G (p.Ile774Ser) c.2942T>G (p.Ile981Ser) c.2609T>G (p.Ile870Ser) c.2690T>G (p.Ile897Ser) c.2708T>G (p.Ile903Ser) n.1089T>G n.3305T>G c.1877T>G (p.Ile626Ser) c.1652T>G (p.Ile551Ser) c.2866-2111T>G (n.2866-2111T>G) n.162T>G c.903T>G c.*43T>G (n.*43T>G) n.3686T>G n.2287T>G c.2798T>G (p.Ile933Ser) n.288T>G c.2846T>G (p.Ile949Ser) c.2906T>G (p.Ile969Ser) c.2456T>G (p.Ile819Ser) c.758T>G (p.Ile253Ser) c.2807T>G (p.Ile936Ser) c.2528T>G (p.Ile843Ser) c.2730+3605T>G (n.2730+3605T>G) c.1610T>G (p.Ile537Ser) n.3161T>G | |
13 | g.51946402A>G | CA388032330 | ATP7B | c.*775T>C (n.*775T>C) c.*1686T>C (n.*1686T>C) c.2321T>C (p.Ile774Thr) c.2942T>C (p.Ile981Thr) c.2609T>C (p.Ile870Thr) c.2690T>C (p.Ile897Thr) c.2708T>C (p.Ile903Thr) n.1089T>C n.3305T>C c.1877T>C (p.Ile626Thr) c.1652T>C (p.Ile551Thr) c.2866-2111T>C (n.2866-2111T>C) n.162T>C c.903T>C c.*43T>C (n.*43T>C) n.3686T>C n.2287T>C c.2798T>C (p.Ile933Thr) n.288T>C c.2846T>C (p.Ile949Thr) c.2906T>C (p.Ile969Thr) c.2456T>C (p.Ile819Thr) c.758T>C (p.Ile253Thr) c.2807T>C (p.Ile936Thr) c.2528T>C (p.Ile843Thr) c.2730+3605T>C (n.2730+3605T>C) c.1610T>C (p.Ile537Thr) n.3161T>C | |
13 | g.51946402A>T | CA388032331 | ATP7B | c.*775T>A (n.*775T>A) c.*1686T>A (n.*1686T>A) c.2321T>A (p.Ile774Asn) c.2942T>A (p.Ile981Asn) c.2609T>A (p.Ile870Asn) c.2690T>A (p.Ile897Asn) c.2708T>A (p.Ile903Asn) n.1089T>A n.3305T>A c.1877T>A (p.Ile626Asn) c.1652T>A (p.Ile551Asn) c.2866-2111T>A (n.2866-2111T>A) n.162T>A c.903T>A c.*43T>A (n.*43T>A) n.3686T>A n.2287T>A c.2798T>A (p.Ile933Asn) n.288T>A c.2846T>A (p.Ile949Asn) c.2906T>A (p.Ile969Asn) c.2456T>A (p.Ile819Asn) c.758T>A (p.Ile253Asn) c.2807T>A (p.Ile936Asn) c.2528T>A (p.Ile843Asn) c.2730+3605T>A (n.2730+3605T>A) c.1610T>A (p.Ile537Asn) n.3161T>A | |
13 | g.51946403T>A | CA388032333 | ATP7B | c.*774A>T (n.*774A>T) c.*1685A>T (n.*1685A>T) c.2320A>T (p.Ile774Phe) c.2941A>T (p.Ile981Phe) c.2608A>T (p.Ile870Phe) c.2689A>T (p.Ile897Phe) c.2707A>T (p.Ile903Phe) n.1088A>T n.3304A>T c.1876A>T (p.Ile626Phe) c.1651A>T (p.Ile551Phe) c.2866-2112A>T (n.2866-2112A>T) n.161A>T c.902A>T c.*42A>T (n.*42A>T) n.3685A>T n.2286A>T c.2797A>T (p.Ile933Phe) n.287A>T c.2845A>T (p.Ile949Phe) c.2905A>T (p.Ile969Phe) c.2455A>T (p.Ile819Phe) c.757A>T (p.Ile253Phe) c.2806A>T (p.Ile936Phe) c.2527A>T (p.Ile843Phe) c.2730+3604A>T (n.2730+3604A>T) c.1609A>T (p.Ile537Phe) n.3160A>T | |
13 | g.51946403T>C | CA388032334 | ATP7B | c.*774A>G (n.*774A>G) c.*1685A>G (n.*1685A>G) c.2320A>G (p.Ile774Val) c.2941A>G (p.Ile981Val) c.2608A>G (p.Ile870Val) c.2689A>G (p.Ile897Val) c.2707A>G (p.Ile903Val) n.1088A>G n.3304A>G c.1876A>G (p.Ile626Val) c.1651A>G (p.Ile551Val) c.2866-2112A>G (n.2866-2112A>G) n.161A>G c.902A>G c.*42A>G (n.*42A>G) n.3685A>G n.2286A>G c.2797A>G (p.Ile933Val) n.287A>G c.2845A>G (p.Ile949Val) c.2905A>G (p.Ile969Val) c.2455A>G (p.Ile819Val) c.757A>G (p.Ile253Val) c.2806A>G (p.Ile936Val) c.2527A>G (p.Ile843Val) c.2730+3604A>G (n.2730+3604A>G) c.1609A>G (p.Ile537Val) n.3160A>G | dbSNP |
13 | g.51946403T>G | CA388032336 | ATP7B | c.*774A>C (n.*774A>C) c.*1685A>C (n.*1685A>C) c.2320A>C (p.Ile774Leu) c.2941A>C (p.Ile981Leu) c.2608A>C (p.Ile870Leu) c.2689A>C (p.Ile897Leu) c.2707A>C (p.Ile903Leu) n.1088A>C n.3304A>C c.1876A>C (p.Ile626Leu) c.1651A>C (p.Ile551Leu) c.2866-2112A>C (n.2866-2112A>C) n.161A>C c.902A>C c.*42A>C (n.*42A>C) n.3685A>C n.2286A>C c.2797A>C (p.Ile933Leu) n.287A>C c.2845A>C (p.Ile949Leu) c.2905A>C (p.Ile969Leu) c.2455A>C (p.Ile819Leu) c.757A>C (p.Ile253Leu) c.2806A>C (p.Ile936Leu) c.2527A>C (p.Ile843Leu) c.2730+3604A>C (n.2730+3604A>C) c.1609A>C (p.Ile537Leu) n.3160A>C | |
13 | g.51946403T= | CA2091566189 | ATP7B | c.*774A= (n.*774A=) c.*1685A= (n.*1685A=) c.2320A= (p.Ile774=) c.2941A= (p.Ile981=) c.2608A= (p.Ile870=) c.2689A= (p.Ile897=) c.2707A= (p.Ile903=) n.1088A= n.3304A= c.1876A= (p.Ile626=) c.1651A= (p.Ile551=) c.2866-2112A= (n.2866-2112A=) n.161A= c.902A= c.*42A= (n.*42A=) n.3685A= n.2286A= c.2797A= (p.Ile933=) n.287A= c.2845A= (p.Ile949=) c.2905A= (p.Ile969=) c.2455A= (p.Ile819=) c.757A= (p.Ile253=) c.2806A= (p.Ile936=) c.2527A= (p.Ile843=) c.2730+3604A= (n.2730+3604A=) c.1609A= (p.Ile537=) n.3160A= | |
13 | g.51946404G>A | CA483894974 | ATP7B | c.*773C>T (n.*773C>T) c.*1684C>T (n.*1684C>T) c.2319C>T (p.Cys773=) c.2940C>T (p.Cys980=) c.2607C>T (p.Cys869=) c.2688C>T (p.Cys896=) c.2706C>T (p.Cys902=) n.1087C>T n.3303C>T c.1875C>T (p.Cys625=) c.1650C>T (p.Cys550=) c.2866-2113C>T (n.2866-2113C>T) n.160C>T c.901C>T c.*41C>T (n.*41C>T) n.3684C>T n.2285C>T c.2796C>T (p.Cys932=) n.286C>T c.2844C>T (p.Cys948=) c.2904C>T (p.Cys968=) c.2454C>T (p.Cys818=) c.756C>T (p.Cys252=) c.2805C>T (p.Cys935=) c.2526C>T (p.Cys842=) c.2730+3603C>T (n.2730+3603C>T) c.1608C>T (p.Cys536=) n.3159C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946404G>C | CA388032338 | ATP7B | c.*773C>G (n.*773C>G) c.*1684C>G (n.*1684C>G) c.2319C>G (p.Cys773Trp) c.2940C>G (p.Cys980Trp) c.2607C>G (p.Cys869Trp) c.2688C>G (p.Cys896Trp) c.2706C>G (p.Cys902Trp) n.1087C>G n.3303C>G c.1875C>G (p.Cys625Trp) c.1650C>G (p.Cys550Trp) c.2866-2113C>G (n.2866-2113C>G) n.160C>G c.901C>G c.*41C>G (n.*41C>G) n.3684C>G n.2285C>G c.2796C>G (p.Cys932Trp) n.286C>G c.2844C>G (p.Cys948Trp) c.2904C>G (p.Cys968Trp) c.2454C>G (p.Cys818Trp) c.756C>G (p.Cys252Trp) c.2805C>G (p.Cys935Trp) c.2526C>G (p.Cys842Trp) c.2730+3603C>G (n.2730+3603C>G) c.1608C>G (p.Cys536Trp) n.3159C>G | dbSNP |
13 | g.51946404G= | CA2091566190 | ATP7B | c.*773C= (n.*773C=) c.*1684C= (n.*1684C=) c.2319C= (p.Cys773=) c.2940C= (p.Cys980=) c.2607C= (p.Cys869=) c.2688C= (p.Cys896=) c.2706C= (p.Cys902=) n.1087C= n.3303C= c.1875C= (p.Cys625=) c.1650C= (p.Cys550=) c.2866-2113C= (n.2866-2113C=) n.160C= c.901C= c.*41C= (n.*41C=) n.3684C= n.2285C= c.2796C= (p.Cys932=) n.286C= c.2844C= (p.Cys948=) c.2904C= (p.Cys968=) c.2454C= (p.Cys818=) c.756C= (p.Cys252=) c.2805C= (p.Cys935=) c.2526C= (p.Cys842=) c.2730+3603C= (n.2730+3603C=) c.1608C= (p.Cys536=) n.3159C= | |
13 | g.51946404G>T | CA388032340 | ATP7B | c.*773C>A (n.*773C>A) c.*1684C>A (n.*1684C>A) c.2319C>A (p.Cys773Ter) c.2940C>A (p.Cys980Ter) c.2607C>A (p.Cys869Ter) c.2688C>A (p.Cys896Ter) c.2706C>A (p.Cys902Ter) n.1087C>A n.3303C>A c.1875C>A (p.Cys625Ter) c.1650C>A (p.Cys550Ter) c.2866-2113C>A (n.2866-2113C>A) n.160C>A c.901C>A c.*41C>A (n.*41C>A) n.3684C>A n.2285C>A c.2796C>A (p.Cys932Ter) n.286C>A c.2844C>A (p.Cys948Ter) c.2904C>A (p.Cys968Ter) c.2454C>A (p.Cys818Ter) c.756C>A (p.Cys252Ter) c.2805C>A (p.Cys935Ter) c.2526C>A (p.Cys842Ter) c.2730+3603C>A (n.2730+3603C>A) c.1608C>A (p.Cys536Ter) n.3159C>A | |
13 | g.51946404_51946405insACGAGCACGGCCACGGCGCGAATCACCGCCCCTTCCACGCCCAGCCCGGCCAGCCAC | CA2523264534 | ATP7B | c.*772_*773insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (n.*772_*773insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT) c.*1683_*1684insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (n.*1683_*1684insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT) c.2318_2319insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Cys773delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAlaValIleArgAlaValAlaValLeuVal) c.2939_2940insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Cys980delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAlaValIleArgAlaValAlaValLeuVal) c.2606_2607insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Cys869delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAlaValIleArgAlaValAlaValLeuVal) c.2687_2688insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Cys896delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAlaValIleArgAlaValAlaValLeuVal) c.2705_2706insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Cys902delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAlaValIleArgAlaValAlaValLeuVal) n.1086_1087insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT n.3302_3303insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT c.1874_1875insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Cys625delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAlaValIleArgAlaValAlaValLeuVal) c.1649_1650insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Cys550delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAlaValIleArgAlaValAlaValLeuVal) c.2866-2114_2866-2113insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (n.2866-2114_2866-2113insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT) n.159_160insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT c.900_901insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT c.*40_*41insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (n.*40_*41insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT) n.3683_3684insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT n.2284_2285insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT c.2795_2796insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Cys932delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAlaValIleArgAlaValAlaValLeuVal) n.285_286insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT c.2843_2844insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Cys948delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAlaValIleArgAlaValAlaValLeuVal) c.2903_2904insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Cys968delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAlaValIleArgAlaValAlaValLeuVal) c.2453_2454insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Cys818delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAlaValIleArgAlaValAlaValLeuVal) c.755_756insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Cys252delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAlaValIleArgAlaValAlaValLeuVal) c.2804_2805insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Cys935delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAlaValIleArgAlaValAlaValLeuVal) c.2525_2526insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Cys842delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAlaValIleArgAlaValAlaValLeuVal) c.2730+3602_2730+3603insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (n.2730+3602_2730+3603insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT) c.1607_1608insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Cys536delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAlaValIleArgAlaValAlaValLeuVal) n.3158_3159insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT | |
13 | g.51946404_51946405insACGAGCACGGCCACGGCGCGAATCACCGCCCCTTCCACGCCCAGCCCGGCCAGCCACCAGCCCGCAAAAGTCAGCAGCGCCAGCCCCAGCACCACGGGCACGAA | CA2553456453 | ATP7B | c.*772_*773insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (n.*772_*773insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT) c.*1683_*1684insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (n.*1683_*1684insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT) c.2318_2319insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Ile774SerfsTer11) c.2939_2940insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Ile981SerfsTer11) c.2606_2607insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Ile870SerfsTer11) c.2687_2688insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Ile897SerfsTer11) c.2705_2706insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Ile903SerfsTer11) n.1086_1087insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT n.3302_3303insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT c.1874_1875insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Ile626SerfsTer11) c.1649_1650insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Ile551SerfsTer11) c.2866-2114_2866-2113insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (n.2866-2114_2866-2113insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT) n.159_160insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT c.900_901insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT c.*40_*41insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (n.*40_*41insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT) n.3683_3684insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT n.2284_2285insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT c.2795_2796insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Ile933SerfsTer11) n.285_286insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT c.2843_2844insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Ile949SerfsTer11) c.2903_2904insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Ile969SerfsTer11) c.2453_2454insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Ile819SerfsTer11) c.755_756insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Ile253SerfsTer11) c.2804_2805insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Ile936SerfsTer11) c.2525_2526insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Ile843SerfsTer11) c.2730+3602_2730+3603insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (n.2730+3602_2730+3603insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT) c.1607_1608insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT (p.Ile537SerfsTer11) n.3158_3159insTTCGTGCCCGTGGTGCTGGGGCTGGCGCTGCTGACTTTTGCGGGCTGGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT | |
13 | g.51946405C>A | CA388032342 | ATP7B | c.*772G>T (n.*772G>T) c.*1683G>T (n.*1683G>T) c.2318G>T (p.Cys773Phe) c.2939G>T (p.Cys980Phe) c.2606G>T (p.Cys869Phe) c.2687G>T (p.Cys896Phe) c.2705G>T (p.Cys902Phe) n.1086G>T n.3302G>T c.1874G>T (p.Cys625Phe) c.1649G>T (p.Cys550Phe) c.2866-2114G>T (n.2866-2114G>T) n.159G>T c.900G>T c.*40G>T (n.*40G>T) n.3683G>T n.2284G>T c.2795G>T (p.Cys932Phe) n.285G>T c.2843G>T (p.Cys948Phe) c.2903G>T (p.Cys968Phe) c.2453G>T (p.Cys818Phe) c.755G>T (p.Cys252Phe) c.2804G>T (p.Cys935Phe) c.2525G>T (p.Cys842Phe) c.2730+3602G>T (n.2730+3602G>T) c.1607G>T (p.Cys536Phe) n.3158G>T | |
13 | g.51946405C= | CA2091566191 | ATP7B | c.*772G= (n.*772G=) c.*1683G= (n.*1683G=) c.2318G= (p.Cys773=) c.2939G= (p.Cys980=) c.2606G= (p.Cys869=) c.2687G= (p.Cys896=) c.2705G= (p.Cys902=) n.1086G= n.3302G= c.1874G= (p.Cys625=) c.1649G= (p.Cys550=) c.2866-2114G= (n.2866-2114G=) n.159G= c.900G= c.*40G= (n.*40G=) n.3683G= n.2284G= c.2795G= (p.Cys932=) n.285G= c.2843G= (p.Cys948=) c.2903G= (p.Cys968=) c.2453G= (p.Cys818=) c.755G= (p.Cys252=) c.2804G= (p.Cys935=) c.2525G= (p.Cys842=) c.2730+3602G= (n.2730+3602G=) c.1607G= (p.Cys536=) n.3158G= | |
13 | g.51946405C>G | CA388032344 | ATP7B | c.*772G>C (n.*772G>C) c.*1683G>C (n.*1683G>C) c.2318G>C (p.Cys773Ser) c.2939G>C (p.Cys980Ser) c.2606G>C (p.Cys869Ser) c.2687G>C (p.Cys896Ser) c.2705G>C (p.Cys902Ser) n.1086G>C n.3302G>C c.1874G>C (p.Cys625Ser) c.1649G>C (p.Cys550Ser) c.2866-2114G>C (n.2866-2114G>C) n.159G>C c.900G>C c.*40G>C (n.*40G>C) n.3683G>C n.2284G>C c.2795G>C (p.Cys932Ser) n.285G>C c.2843G>C (p.Cys948Ser) c.2903G>C (p.Cys968Ser) c.2453G>C (p.Cys818Ser) c.755G>C (p.Cys252Ser) c.2804G>C (p.Cys935Ser) c.2525G>C (p.Cys842Ser) c.2730+3602G>C (n.2730+3602G>C) c.1607G>C (p.Cys536Ser) n.3158G>C | |
13 | g.51946405C>T | CA250082222 | ATP7B | c.*772G>A (n.*772G>A) c.*1683G>A (n.*1683G>A) c.2318G>A (p.Cys773Tyr) c.2939G>A (p.Cys980Tyr) c.2606G>A (p.Cys869Tyr) c.2687G>A (p.Cys896Tyr) c.2705G>A (p.Cys902Tyr) n.1086G>A n.3302G>A c.1874G>A (p.Cys625Tyr) c.1649G>A (p.Cys550Tyr) c.2866-2114G>A (n.2866-2114G>A) n.159G>A c.900G>A c.*40G>A (n.*40G>A) n.3683G>A n.2284G>A c.2795G>A (p.Cys932Tyr) n.285G>A c.2843G>A (p.Cys948Tyr) c.2903G>A (p.Cys968Tyr) c.2453G>A (p.Cys818Tyr) c.755G>A (p.Cys252Tyr) c.2804G>A (p.Cys935Tyr) c.2525G>A (p.Cys842Tyr) c.2730+3602G>A (n.2730+3602G>A) c.1607G>A (p.Cys536Tyr) n.3158G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946406A= | CA2091566192 | ATP7B | c.*771T= (n.*771T=) c.*1682T= (n.*1682T=) c.2317T= (p.Cys773=) c.2938T= (p.Cys980=) c.2605T= (p.Cys869=) c.2686T= (p.Cys896=) c.2704T= (p.Cys902=) n.1085T= n.3301T= c.1873T= (p.Cys625=) c.1648T= (p.Cys550=) c.2866-2115T= (n.2866-2115T=) n.158T= c.899T= c.*39T= (n.*39T=) n.3682T= n.2283T= c.2794T= (p.Cys932=) n.284T= c.2842T= (p.Cys948=) c.2902T= (p.Cys968=) c.2452T= (p.Cys818=) c.754T= (p.Cys252=) c.2803T= (p.Cys935=) c.2524T= (p.Cys842=) c.2730+3601T= (n.2730+3601T=) c.1606T= (p.Cys536=) n.3157T= | |
13 | g.51946406A>C | CA6988857 | ATP7B | c.*771T>G (n.*771T>G) c.*1682T>G (n.*1682T>G) c.2317T>G (p.Cys773Gly) c.2938T>G (p.Cys980Gly) c.2605T>G (p.Cys869Gly) c.2686T>G (p.Cys896Gly) c.2704T>G (p.Cys902Gly) n.1085T>G n.3301T>G c.1873T>G (p.Cys625Gly) c.1648T>G (p.Cys550Gly) c.2866-2115T>G (n.2866-2115T>G) n.158T>G c.899T>G c.*39T>G (n.*39T>G) n.3682T>G n.2283T>G c.2794T>G (p.Cys932Gly) n.284T>G c.2842T>G (p.Cys948Gly) c.2902T>G (p.Cys968Gly) c.2452T>G (p.Cys818Gly) c.754T>G (p.Cys252Gly) c.2803T>G (p.Cys935Gly) c.2524T>G (p.Cys842Gly) c.2730+3601T>G (n.2730+3601T>G) c.1606T>G (p.Cys536Gly) n.3157T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946406A>G | CA388032346 | ATP7B | c.*771T>C (n.*771T>C) c.*1682T>C (n.*1682T>C) c.2317T>C (p.Cys773Arg) c.2938T>C (p.Cys980Arg) c.2605T>C (p.Cys869Arg) c.2686T>C (p.Cys896Arg) c.2704T>C (p.Cys902Arg) n.1085T>C n.3301T>C c.1873T>C (p.Cys625Arg) c.1648T>C (p.Cys550Arg) c.2866-2115T>C (n.2866-2115T>C) n.158T>C c.899T>C c.*39T>C (n.*39T>C) n.3682T>C n.2283T>C c.2794T>C (p.Cys932Arg) n.284T>C c.2842T>C (p.Cys948Arg) c.2902T>C (p.Cys968Arg) c.2452T>C (p.Cys818Arg) c.754T>C (p.Cys252Arg) c.2803T>C (p.Cys935Arg) c.2524T>C (p.Cys842Arg) c.2730+3601T>C (n.2730+3601T>C) c.1606T>C (p.Cys536Arg) n.3157T>C | |
13 | g.51946406A>T | CA388032348 | ATP7B | c.*771T>A (n.*771T>A) c.*1682T>A (n.*1682T>A) c.2317T>A (p.Cys773Ser) c.2938T>A (p.Cys980Ser) c.2605T>A (p.Cys869Ser) c.2686T>A (p.Cys896Ser) c.2704T>A (p.Cys902Ser) n.1085T>A n.3301T>A c.1873T>A (p.Cys625Ser) c.1648T>A (p.Cys550Ser) c.2866-2115T>A (n.2866-2115T>A) n.158T>A c.899T>A c.*39T>A (n.*39T>A) n.3682T>A n.2283T>A c.2794T>A (p.Cys932Ser) n.284T>A c.2842T>A (p.Cys948Ser) c.2902T>A (p.Cys968Ser) c.2452T>A (p.Cys818Ser) c.754T>A (p.Cys252Ser) c.2803T>A (p.Cys935Ser) c.2524T>A (p.Cys842Ser) c.2730+3601T>A (n.2730+3601T>A) c.1606T>A (p.Cys536Ser) n.3157T>A |