UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51944149T>A | CA388029901 | ATP7B | c.*894-1595A>T (n.*894-1595A>T) c.*1947A>T (n.*1947A>T) c.2582A>T (p.Glu861Val) c.3203A>T (p.Glu1068Val) c.2870A>T (p.Glu957Val) c.2951A>T (p.Glu984Val) c.2969A>T (p.Glu990Val) n.3342A>T n.3566A>T c.2138A>T (p.Glu713Val) c.1913A>T (p.Glu638Val) c.3008A>T (p.Glu1003Val) n.423A>T c.1022-1595A>T c.*304A>T (n.*304A>T) n.3947A>T n.2548A>T c.3059A>T (p.Glu1020Val) c.3107A>T (p.Glu1036Val) c.3167A>T (p.Glu1056Val) c.2717A>T (p.Glu906Val) c.1019A>T (p.Glu340Val) c.877-1595A>T (n.877-1595A>T) c.3068A>T (p.Glu1023Val) c.3061-1595A>T (n.3061-1595A>T) c.2789A>T (p.Glu930Val) c.2731-1595A>T (n.2731-1595A>T) c.1871A>T (p.Glu624Val) n.3422A>T | |
| 13 | g.51944149T>C | CA388029904 | ATP7B | c.*894-1595A>G (n.*894-1595A>G) c.*1947A>G (n.*1947A>G) c.2582A>G (p.Glu861Gly) c.3203A>G (p.Glu1068Gly) c.2870A>G (p.Glu957Gly) c.2951A>G (p.Glu984Gly) c.2969A>G (p.Glu990Gly) n.3342A>G n.3566A>G c.2138A>G (p.Glu713Gly) c.1913A>G (p.Glu638Gly) c.3008A>G (p.Glu1003Gly) n.423A>G c.1022-1595A>G c.*304A>G (n.*304A>G) n.3947A>G n.2548A>G c.3059A>G (p.Glu1020Gly) c.3107A>G (p.Glu1036Gly) c.3167A>G (p.Glu1056Gly) c.2717A>G (p.Glu906Gly) c.1019A>G (p.Glu340Gly) c.877-1595A>G (n.877-1595A>G) c.3068A>G (p.Glu1023Gly) c.3061-1595A>G (n.3061-1595A>G) c.2789A>G (p.Glu930Gly) c.2731-1595A>G (n.2731-1595A>G) c.1871A>G (p.Glu624Gly) n.3422A>G | ClinVar dbSNP |
| 13 | g.51944149T>G | CA388029907 | ATP7B | c.*894-1595A>C (n.*894-1595A>C) c.*1947A>C (n.*1947A>C) c.2582A>C (p.Glu861Ala) c.3203A>C (p.Glu1068Ala) c.2870A>C (p.Glu957Ala) c.2951A>C (p.Glu984Ala) c.2969A>C (p.Glu990Ala) n.3342A>C n.3566A>C c.2138A>C (p.Glu713Ala) c.1913A>C (p.Glu638Ala) c.3008A>C (p.Glu1003Ala) n.423A>C c.1022-1595A>C c.*304A>C (n.*304A>C) n.3947A>C n.2548A>C c.3059A>C (p.Glu1020Ala) c.3107A>C (p.Glu1036Ala) c.3167A>C (p.Glu1056Ala) c.2717A>C (p.Glu906Ala) c.1019A>C (p.Glu340Ala) c.877-1595A>C (n.877-1595A>C) c.3068A>C (p.Glu1023Ala) c.3061-1595A>C (n.3061-1595A>C) c.2789A>C (p.Glu930Ala) c.2731-1595A>C (n.2731-1595A>C) c.1871A>C (p.Glu624Ala) n.3422A>C | |
| 13 | g.51944149T= | CA2091563814 | ATP7B | c.*894-1595A= (n.*894-1595A=) c.*1947A= (n.*1947A=) c.2582A= (p.Glu861=) c.3203A= (p.Glu1068=) c.2870A= (p.Glu957=) c.2951A= (p.Glu984=) c.2969A= (p.Glu990=) n.3342A= n.3566A= c.2138A= (p.Glu713=) c.1913A= (p.Glu638=) c.3008A= (p.Glu1003=) n.423A= c.1022-1595A= c.*304A= (n.*304A=) n.3947A= n.2548A= c.3059A= (p.Glu1020=) c.3107A= (p.Glu1036=) c.3167A= (p.Glu1056=) c.2717A= (p.Glu906=) c.1019A= (p.Glu340=) c.877-1595A= (n.877-1595A=) c.3068A= (p.Glu1023=) c.3061-1595A= (n.3061-1595A=) c.2789A= (p.Glu930=) c.2731-1595A= (n.2731-1595A=) c.1871A= (p.Glu624=) n.3422A= | |
| 13 | g.51944150C>A | CA388029909 | ATP7B | c.*894-1596G>T (n.*894-1596G>T) c.*1946G>T (n.*1946G>T) c.2581G>T (p.Glu861Ter) c.3202G>T (p.Glu1068Ter) c.2869G>T (p.Glu957Ter) c.2950G>T (p.Glu984Ter) c.2968G>T (p.Glu990Ter) n.3341G>T n.3565G>T c.2137G>T (p.Glu713Ter) c.1912G>T (p.Glu638Ter) c.3007G>T (p.Glu1003Ter) n.422G>T c.1022-1596G>T c.*303G>T (n.*303G>T) n.3946G>T n.2547G>T c.3058G>T (p.Glu1020Ter) c.3106G>T (p.Glu1036Ter) c.3166G>T (p.Glu1056Ter) c.2716G>T (p.Glu906Ter) c.1018G>T (p.Glu340Ter) c.877-1596G>T (n.877-1596G>T) c.3067G>T (p.Glu1023Ter) c.3061-1596G>T (n.3061-1596G>T) c.2788G>T (p.Glu930Ter) c.2731-1596G>T (n.2731-1596G>T) c.1870G>T (p.Glu624Ter) n.3421G>T | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.51944150C= | CA2091563818 | ATP7B | c.*894-1596G= (n.*894-1596G=) c.*1946G= (n.*1946G=) c.2581G= (p.Glu861=) c.3202G= (p.Glu1068=) c.2869G= (p.Glu957=) c.2950G= (p.Glu984=) c.2968G= (p.Glu990=) n.3341G= n.3565G= c.2137G= (p.Glu713=) c.1912G= (p.Glu638=) c.3007G= (p.Glu1003=) n.422G= c.1022-1596G= c.*303G= (n.*303G=) n.3946G= n.2547G= c.3058G= (p.Glu1020=) c.3106G= (p.Glu1036=) c.3166G= (p.Glu1056=) c.2716G= (p.Glu906=) c.1018G= (p.Glu340=) c.877-1596G= (n.877-1596G=) c.3067G= (p.Glu1023=) c.3061-1596G= (n.3061-1596G=) c.2788G= (p.Glu930=) c.2731-1596G= (n.2731-1596G=) c.1870G= (p.Glu624=) n.3421G= | |
| 13 | g.51944150C>G | CA388029911 | ATP7B | c.*894-1596G>C (n.*894-1596G>C) c.*1946G>C (n.*1946G>C) c.2581G>C (p.Glu861Gln) c.3202G>C (p.Glu1068Gln) c.2869G>C (p.Glu957Gln) c.2950G>C (p.Glu984Gln) c.2968G>C (p.Glu990Gln) n.3341G>C n.3565G>C c.2137G>C (p.Glu713Gln) c.1912G>C (p.Glu638Gln) c.3007G>C (p.Glu1003Gln) n.422G>C c.1022-1596G>C c.*303G>C (n.*303G>C) n.3946G>C n.2547G>C c.3058G>C (p.Glu1020Gln) c.3106G>C (p.Glu1036Gln) c.3166G>C (p.Glu1056Gln) c.2716G>C (p.Glu906Gln) c.1018G>C (p.Glu340Gln) c.877-1596G>C (n.877-1596G>C) c.3067G>C (p.Glu1023Gln) c.3061-1596G>C (n.3061-1596G>C) c.2788G>C (p.Glu930Gln) c.2731-1596G>C (n.2731-1596G>C) c.1870G>C (p.Glu624Gln) n.3421G>C | |
| 13 | g.51944150C>T | CA388029914 | ATP7B | c.*894-1596G>A (n.*894-1596G>A) c.*1946G>A (n.*1946G>A) c.2581G>A (p.Glu861Lys) c.3202G>A (p.Glu1068Lys) c.2869G>A (p.Glu957Lys) c.2950G>A (p.Glu984Lys) c.2968G>A (p.Glu990Lys) n.3341G>A n.3565G>A c.2137G>A (p.Glu713Lys) c.1912G>A (p.Glu638Lys) c.3007G>A (p.Glu1003Lys) n.422G>A c.1022-1596G>A c.*303G>A (n.*303G>A) n.3946G>A n.2547G>A c.3058G>A (p.Glu1020Lys) c.3106G>A (p.Glu1036Lys) c.3166G>A (p.Glu1056Lys) c.2716G>A (p.Glu906Lys) c.1018G>A (p.Glu340Lys) c.877-1596G>A (n.877-1596G>A) c.3067G>A (p.Glu1023Lys) c.3061-1596G>A (n.3061-1596G>A) c.2788G>A (p.Glu930Lys) c.2731-1596G>A (n.2731-1596G>A) c.1870G>A (p.Glu624Lys) n.3421G>A | |
| 13 | g.51944151A>C | CA388029915 | ATP7B | c.*894-1597T>G (n.*894-1597T>G) c.*1945T>G (n.*1945T>G) c.2580T>G (p.Ser860Arg) c.3201T>G (p.Ser1067Arg) c.2868T>G (p.Ser956Arg) c.2949T>G (p.Ser983Arg) c.2967T>G (p.Ser989Arg) n.3340T>G n.3564T>G c.2136T>G (p.Ser712Arg) c.1911T>G (p.Ser637Arg) c.3006T>G (p.Ser1002Arg) n.421T>G c.1022-1597T>G c.*302T>G (n.*302T>G) n.3945T>G n.2546T>G c.3057T>G (p.Ser1019Arg) c.3105T>G (p.Ser1035Arg) c.3165T>G (p.Ser1055Arg) c.2715T>G (p.Ser905Arg) c.1017T>G (p.Ser339Arg) c.877-1597T>G (n.877-1597T>G) c.3066T>G (p.Ser1022Arg) c.3061-1597T>G (n.3061-1597T>G) c.2787T>G (p.Ser929Arg) c.2731-1597T>G (n.2731-1597T>G) c.1869T>G (p.Ser623Arg) n.3420T>G | ClinVar dbSNP |
| 13 | g.51944151A>G | CA483894654 | ATP7B | c.*894-1597T>C (n.*894-1597T>C) c.*1945T>C (n.*1945T>C) c.2580T>C (p.Ser860=) c.3201T>C (p.Ser1067=) c.2868T>C (p.Ser956=) c.2949T>C (p.Ser983=) c.2967T>C (p.Ser989=) n.3340T>C n.3564T>C c.2136T>C (p.Ser712=) c.1911T>C (p.Ser637=) c.3006T>C (p.Ser1002=) n.421T>C c.1022-1597T>C c.*302T>C (n.*302T>C) n.3945T>C n.2546T>C c.3057T>C (p.Ser1019=) c.3105T>C (p.Ser1035=) c.3165T>C (p.Ser1055=) c.2715T>C (p.Ser905=) c.1017T>C (p.Ser339=) c.877-1597T>C (n.877-1597T>C) c.3066T>C (p.Ser1022=) c.3061-1597T>C (n.3061-1597T>C) c.2787T>C (p.Ser929=) c.2731-1597T>C (n.2731-1597T>C) c.1869T>C (p.Ser623=) n.3420T>C | |
| 13 | g.51944151A>T | CA388029918 | ATP7B | c.*894-1597T>A (n.*894-1597T>A) c.*1945T>A (n.*1945T>A) c.2580T>A (p.Ser860Arg) c.3201T>A (p.Ser1067Arg) c.2868T>A (p.Ser956Arg) c.2949T>A (p.Ser983Arg) c.2967T>A (p.Ser989Arg) n.3340T>A n.3564T>A c.2136T>A (p.Ser712Arg) c.1911T>A (p.Ser637Arg) c.3006T>A (p.Ser1002Arg) n.421T>A c.1022-1597T>A c.*302T>A (n.*302T>A) n.3945T>A n.2546T>A c.3057T>A (p.Ser1019Arg) c.3105T>A (p.Ser1035Arg) c.3165T>A (p.Ser1055Arg) c.2715T>A (p.Ser905Arg) c.1017T>A (p.Ser339Arg) c.877-1597T>A (n.877-1597T>A) c.3066T>A (p.Ser1022Arg) c.3061-1597T>A (n.3061-1597T>A) c.2787T>A (p.Ser929Arg) c.2731-1597T>A (n.2731-1597T>A) c.1869T>A (p.Ser623Arg) n.3420T>A | |
| 13 | g.51944152C>A | CA388029920 | ATP7B | c.*894-1598G>T (n.*894-1598G>T) c.*1944G>T (n.*1944G>T) c.2579G>T (p.Ser860Ile) c.3200G>T (p.Ser1067Ile) c.2867G>T (p.Ser956Ile) c.2948G>T (p.Ser983Ile) c.2966G>T (p.Ser989Ile) n.3339G>T n.3563G>T c.2135G>T (p.Ser712Ile) c.1910G>T (p.Ser637Ile) c.3005G>T (p.Ser1002Ile) n.420G>T c.1022-1598G>T c.*301G>T (n.*301G>T) n.3944G>T n.2545G>T c.3056G>T (p.Ser1019Ile) c.3104G>T (p.Ser1035Ile) c.3164G>T (p.Ser1055Ile) c.2714G>T (p.Ser905Ile) c.1016G>T (p.Ser339Ile) c.877-1598G>T (n.877-1598G>T) c.3065G>T (p.Ser1022Ile) c.3061-1598G>T (n.3061-1598G>T) c.2786G>T (p.Ser929Ile) c.2731-1598G>T (n.2731-1598G>T) c.1868G>T (p.Ser623Ile) n.3419G>T | |
| 13 | g.51944152C= | CA2091563821 | ATP7B | c.*894-1598G= (n.*894-1598G=) c.*1944G= (n.*1944G=) c.2579G= (p.Ser860=) c.3200G= (p.Ser1067=) c.2867G= (p.Ser956=) c.2948G= (p.Ser983=) c.2966G= (p.Ser989=) n.3339G= n.3563G= c.2135G= (p.Ser712=) c.1910G= (p.Ser637=) c.3005G= (p.Ser1002=) n.420G= c.1022-1598G= c.*301G= (n.*301G=) n.3944G= n.2545G= c.3056G= (p.Ser1019=) c.3104G= (p.Ser1035=) c.3164G= (p.Ser1055=) c.2714G= (p.Ser905=) c.1016G= (p.Ser339=) c.877-1598G= (n.877-1598G=) c.3065G= (p.Ser1022=) c.3061-1598G= (n.3061-1598G=) c.2786G= (p.Ser929=) c.2731-1598G= (n.2731-1598G=) c.1868G= (p.Ser623=) n.3419G= | |
| 13 | g.51944152C>G | CA388029922 | ATP7B | c.*894-1598G>C (n.*894-1598G>C) c.*1944G>C (n.*1944G>C) c.2579G>C (p.Ser860Thr) c.3200G>C (p.Ser1067Thr) c.2867G>C (p.Ser956Thr) c.2948G>C (p.Ser983Thr) c.2966G>C (p.Ser989Thr) n.3339G>C n.3563G>C c.2135G>C (p.Ser712Thr) c.1910G>C (p.Ser637Thr) c.3005G>C (p.Ser1002Thr) n.420G>C c.1022-1598G>C c.*301G>C (n.*301G>C) n.3944G>C n.2545G>C c.3056G>C (p.Ser1019Thr) c.3104G>C (p.Ser1035Thr) c.3164G>C (p.Ser1055Thr) c.2714G>C (p.Ser905Thr) c.1016G>C (p.Ser339Thr) c.877-1598G>C (n.877-1598G>C) c.3065G>C (p.Ser1022Thr) c.3061-1598G>C (n.3061-1598G>C) c.2786G>C (p.Ser929Thr) c.2731-1598G>C (n.2731-1598G>C) c.1868G>C (p.Ser623Thr) n.3419G>C | |
| 13 | g.51944152C>T | CA388029924 | ATP7B | c.*894-1598G>A (n.*894-1598G>A) c.*1944G>A (n.*1944G>A) c.2579G>A (p.Ser860Asn) c.3200G>A (p.Ser1067Asn) c.2867G>A (p.Ser956Asn) c.2948G>A (p.Ser983Asn) c.2966G>A (p.Ser989Asn) n.3339G>A n.3563G>A c.2135G>A (p.Ser712Asn) c.1910G>A (p.Ser637Asn) c.3005G>A (p.Ser1002Asn) n.420G>A c.1022-1598G>A c.*301G>A (n.*301G>A) n.3944G>A n.2545G>A c.3056G>A (p.Ser1019Asn) c.3104G>A (p.Ser1035Asn) c.3164G>A (p.Ser1055Asn) c.2714G>A (p.Ser905Asn) c.1016G>A (p.Ser339Asn) c.877-1598G>A (n.877-1598G>A) c.3065G>A (p.Ser1022Asn) c.3061-1598G>A (n.3061-1598G>A) c.2786G>A (p.Ser929Asn) c.2731-1598G>A (n.2731-1598G>A) c.1868G>A (p.Ser623Asn) n.3419G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.51944153T>A | CA388029926 | ATP7B | c.*894-1599A>T (n.*894-1599A>T) c.*1943A>T (n.*1943A>T) c.2578A>T (p.Ser860Cys) c.3199A>T (p.Ser1067Cys) c.2866A>T (p.Ser956Cys) c.2947A>T (p.Ser983Cys) c.2965A>T (p.Ser989Cys) n.3338A>T n.3562A>T c.2134A>T (p.Ser712Cys) c.1909A>T (p.Ser637Cys) c.3004A>T (p.Ser1002Cys) n.419A>T c.1022-1599A>T c.*300A>T (n.*300A>T) n.3943A>T n.2544A>T c.3055A>T (p.Ser1019Cys) c.3103A>T (p.Ser1035Cys) c.3163A>T (p.Ser1055Cys) c.2713A>T (p.Ser905Cys) c.1015A>T (p.Ser339Cys) c.877-1599A>T (n.877-1599A>T) c.3064A>T (p.Ser1022Cys) c.3061-1599A>T (n.3061-1599A>T) c.2785A>T (p.Ser929Cys) c.2731-1599A>T (n.2731-1599A>T) c.1867A>T (p.Ser623Cys) n.3418A>T | |
| 13 | g.51944153T>C | CA388029927 | ATP7B | c.*894-1599A>G (n.*894-1599A>G) c.*1943A>G (n.*1943A>G) c.2578A>G (p.Ser860Gly) c.3199A>G (p.Ser1067Gly) c.2866A>G (p.Ser956Gly) c.2947A>G (p.Ser983Gly) c.2965A>G (p.Ser989Gly) n.3338A>G n.3562A>G c.2134A>G (p.Ser712Gly) c.1909A>G (p.Ser637Gly) c.3004A>G (p.Ser1002Gly) n.419A>G c.1022-1599A>G c.*300A>G (n.*300A>G) n.3943A>G n.2544A>G c.3055A>G (p.Ser1019Gly) c.3103A>G (p.Ser1035Gly) c.3163A>G (p.Ser1055Gly) c.2713A>G (p.Ser905Gly) c.1015A>G (p.Ser339Gly) c.877-1599A>G (n.877-1599A>G) c.3064A>G (p.Ser1022Gly) c.3061-1599A>G (n.3061-1599A>G) c.2785A>G (p.Ser929Gly) c.2731-1599A>G (n.2731-1599A>G) c.1867A>G (p.Ser623Gly) n.3418A>G | ClinVar |
| 13 | g.51944153T>G | CA388029928 | ATP7B | c.*894-1599A>C (n.*894-1599A>C) c.*1943A>C (n.*1943A>C) c.2578A>C (p.Ser860Arg) c.3199A>C (p.Ser1067Arg) c.2866A>C (p.Ser956Arg) c.2947A>C (p.Ser983Arg) c.2965A>C (p.Ser989Arg) n.3338A>C n.3562A>C c.2134A>C (p.Ser712Arg) c.1909A>C (p.Ser637Arg) c.3004A>C (p.Ser1002Arg) n.419A>C c.1022-1599A>C c.*300A>C (n.*300A>C) n.3943A>C n.2544A>C c.3055A>C (p.Ser1019Arg) c.3103A>C (p.Ser1035Arg) c.3163A>C (p.Ser1055Arg) c.2713A>C (p.Ser905Arg) c.1015A>C (p.Ser339Arg) c.877-1599A>C (n.877-1599A>C) c.3064A>C (p.Ser1022Arg) c.3061-1599A>C (n.3061-1599A>C) c.2785A>C (p.Ser929Arg) c.2731-1599A>C (n.2731-1599A>C) c.1867A>C (p.Ser623Arg) n.3418A>C | |
| 13 | g.51944154G>A | CA483894656 | ATP7B | c.*894-1600C>T (n.*894-1600C>T) c.*1942C>T (n.*1942C>T) c.2577C>T (p.Ser859=) c.3198C>T (p.Ser1066=) c.2865C>T (p.Ser955=) c.2946C>T (p.Ser982=) c.2964C>T (p.Ser988=) n.3337C>T n.3561C>T c.2133C>T (p.Ser711=) c.1908C>T (p.Ser636=) c.3003C>T (p.Ser1001=) n.418C>T c.1022-1600C>T c.*299C>T (n.*299C>T) n.3942C>T n.2543C>T c.3054C>T (p.Ser1018=) c.3102C>T (p.Ser1034=) c.3162C>T (p.Ser1054=) c.2712C>T (p.Ser904=) c.1014C>T (p.Ser338=) c.877-1600C>T (n.877-1600C>T) c.3063C>T (p.Ser1021=) c.3061-1600C>T (n.3061-1600C>T) c.2784C>T (p.Ser928=) c.2731-1600C>T (n.2731-1600C>T) c.1866C>T (p.Ser622=) n.3417C>T | |
| 13 | g.51944154G>C | CA388029932 | ATP7B | c.*894-1600C>G (n.*894-1600C>G) c.*1942C>G (n.*1942C>G) c.2577C>G (p.Ser859Arg) c.3198C>G (p.Ser1066Arg) c.2865C>G (p.Ser955Arg) c.2946C>G (p.Ser982Arg) c.2964C>G (p.Ser988Arg) n.3337C>G n.3561C>G c.2133C>G (p.Ser711Arg) c.1908C>G (p.Ser636Arg) c.3003C>G (p.Ser1001Arg) n.418C>G c.1022-1600C>G c.*299C>G (n.*299C>G) n.3942C>G n.2543C>G c.3054C>G (p.Ser1018Arg) c.3102C>G (p.Ser1034Arg) c.3162C>G (p.Ser1054Arg) c.2712C>G (p.Ser904Arg) c.1014C>G (p.Ser338Arg) c.877-1600C>G (n.877-1600C>G) c.3063C>G (p.Ser1021Arg) c.3061-1600C>G (n.3061-1600C>G) c.2784C>G (p.Ser928Arg) c.2731-1600C>G (n.2731-1600C>G) c.1866C>G (p.Ser622Arg) n.3417C>G | |
| 13 | g.51944154G>T | CA388029929 | ATP7B | c.*894-1600C>A (n.*894-1600C>A) c.*1942C>A (n.*1942C>A) c.2577C>A (p.Ser859Arg) c.3198C>A (p.Ser1066Arg) c.2865C>A (p.Ser955Arg) c.2946C>A (p.Ser982Arg) c.2964C>A (p.Ser988Arg) n.3337C>A n.3561C>A c.2133C>A (p.Ser711Arg) c.1908C>A (p.Ser636Arg) c.3003C>A (p.Ser1001Arg) n.418C>A c.1022-1600C>A c.*299C>A (n.*299C>A) n.3942C>A n.2543C>A c.3054C>A (p.Ser1018Arg) c.3102C>A (p.Ser1034Arg) c.3162C>A (p.Ser1054Arg) c.2712C>A (p.Ser904Arg) c.1014C>A (p.Ser338Arg) c.877-1600C>A (n.877-1600C>A) c.3063C>A (p.Ser1021Arg) c.3061-1600C>A (n.3061-1600C>A) c.2784C>A (p.Ser928Arg) c.2731-1600C>A (n.2731-1600C>A) c.1866C>A (p.Ser622Arg) n.3417C>A | |
| 13 | g.51944155C>A | CA388029934 | ATP7B | c.*894-1601G>T (n.*894-1601G>T) c.*1941G>T (n.*1941G>T) c.2576G>T (p.Ser859Ile) c.3197G>T (p.Ser1066Ile) c.2864G>T (p.Ser955Ile) c.2945G>T (p.Ser982Ile) c.2963G>T (p.Ser988Ile) n.3336G>T n.3560G>T c.2132G>T (p.Ser711Ile) c.1907G>T (p.Ser636Ile) c.3002G>T (p.Ser1001Ile) n.417G>T c.1022-1601G>T c.*298G>T (n.*298G>T) n.3941G>T n.2542G>T c.3053G>T (p.Ser1018Ile) c.3101G>T (p.Ser1034Ile) c.3161G>T (p.Ser1054Ile) c.2711G>T (p.Ser904Ile) c.1013G>T (p.Ser338Ile) c.877-1601G>T (n.877-1601G>T) c.3062G>T (p.Ser1021Ile) c.3061-1601G>T (n.3061-1601G>T) c.2783G>T (p.Ser928Ile) c.2731-1601G>T (n.2731-1601G>T) c.1865G>T (p.Ser622Ile) n.3416G>T | |
| 13 | g.51944155C= | CA2091563824 | ATP7B | c.*894-1601G= (n.*894-1601G=) c.*1941G= (n.*1941G=) c.2576G= (p.Ser859=) c.3197G= (p.Ser1066=) c.2864G= (p.Ser955=) c.2945G= (p.Ser982=) c.2963G= (p.Ser988=) n.3336G= n.3560G= c.2132G= (p.Ser711=) c.1907G= (p.Ser636=) c.3002G= (p.Ser1001=) n.417G= c.1022-1601G= c.*298G= (n.*298G=) n.3941G= n.2542G= c.3053G= (p.Ser1018=) c.3101G= (p.Ser1034=) c.3161G= (p.Ser1054=) c.2711G= (p.Ser904=) c.1013G= (p.Ser338=) c.877-1601G= (n.877-1601G=) c.3062G= (p.Ser1021=) c.3061-1601G= (n.3061-1601G=) c.2783G= (p.Ser928=) c.2731-1601G= (n.2731-1601G=) c.1865G= (p.Ser622=) n.3416G= | |
| 13 | g.51944155C>G | CA388029936 | ATP7B | c.*894-1601G>C (n.*894-1601G>C) c.*1941G>C (n.*1941G>C) c.2576G>C (p.Ser859Thr) c.3197G>C (p.Ser1066Thr) c.2864G>C (p.Ser955Thr) c.2945G>C (p.Ser982Thr) c.2963G>C (p.Ser988Thr) n.3336G>C n.3560G>C c.2132G>C (p.Ser711Thr) c.1907G>C (p.Ser636Thr) c.3002G>C (p.Ser1001Thr) n.417G>C c.1022-1601G>C c.*298G>C (n.*298G>C) n.3941G>C n.2542G>C c.3053G>C (p.Ser1018Thr) c.3101G>C (p.Ser1034Thr) c.3161G>C (p.Ser1054Thr) c.2711G>C (p.Ser904Thr) c.1013G>C (p.Ser338Thr) c.877-1601G>C (n.877-1601G>C) c.3062G>C (p.Ser1021Thr) c.3061-1601G>C (n.3061-1601G>C) c.2783G>C (p.Ser928Thr) c.2731-1601G>C (n.2731-1601G>C) c.1865G>C (p.Ser622Thr) n.3416G>C | |
| 13 | g.51944155C>T | CA388029939 | ATP7B | c.*894-1601G>A (n.*894-1601G>A) c.*1941G>A (n.*1941G>A) c.2576G>A (p.Ser859Asn) c.3197G>A (p.Ser1066Asn) c.2864G>A (p.Ser955Asn) c.2945G>A (p.Ser982Asn) c.2963G>A (p.Ser988Asn) n.3336G>A n.3560G>A c.2132G>A (p.Ser711Asn) c.1907G>A (p.Ser636Asn) c.3002G>A (p.Ser1001Asn) n.417G>A c.1022-1601G>A c.*298G>A (n.*298G>A) n.3941G>A n.2542G>A c.3053G>A (p.Ser1018Asn) c.3101G>A (p.Ser1034Asn) c.3161G>A (p.Ser1054Asn) c.2711G>A (p.Ser904Asn) c.1013G>A (p.Ser338Asn) c.877-1601G>A (n.877-1601G>A) c.3062G>A (p.Ser1021Asn) c.3061-1601G>A (n.3061-1601G>A) c.2783G>A (p.Ser928Asn) c.2731-1601G>A (n.2731-1601G>A) c.1865G>A (p.Ser622Asn) n.3416G>A | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.51944156T>A | CA388029942 | ATP7B | c.*894-1602A>T (n.*894-1602A>T) c.*1940A>T (n.*1940A>T) c.2575A>T (p.Ser859Cys) c.3196A>T (p.Ser1066Cys) c.2863A>T (p.Ser955Cys) c.2944A>T (p.Ser982Cys) c.2962A>T (p.Ser988Cys) n.3335A>T n.3559A>T c.2131A>T (p.Ser711Cys) c.1906A>T (p.Ser636Cys) c.3001A>T (p.Ser1001Cys) n.416A>T c.1022-1602A>T c.*297A>T (n.*297A>T) n.3940A>T n.2541A>T c.3052A>T (p.Ser1018Cys) c.3100A>T (p.Ser1034Cys) c.3160A>T (p.Ser1054Cys) c.2710A>T (p.Ser904Cys) c.1012A>T (p.Ser338Cys) c.877-1602A>T (n.877-1602A>T) c.3061A>T (p.Ser1021Cys) c.3061-1602A>T (n.3061-1602A>T) c.2782A>T (p.Ser928Cys) c.2731-1602A>T (n.2731-1602A>T) c.1864A>T (p.Ser622Cys) n.3415A>T | |
| 13 | g.51944156T>C | CA388029944 | ATP7B | c.*894-1602A>G (n.*894-1602A>G) c.*1940A>G (n.*1940A>G) c.2575A>G (p.Ser859Gly) c.3196A>G (p.Ser1066Gly) c.2863A>G (p.Ser955Gly) c.2944A>G (p.Ser982Gly) c.2962A>G (p.Ser988Gly) n.3335A>G n.3559A>G c.2131A>G (p.Ser711Gly) c.1906A>G (p.Ser636Gly) c.3001A>G (p.Ser1001Gly) n.416A>G c.1022-1602A>G c.*297A>G (n.*297A>G) n.3940A>G n.2541A>G c.3052A>G (p.Ser1018Gly) c.3100A>G (p.Ser1034Gly) c.3160A>G (p.Ser1054Gly) c.2710A>G (p.Ser904Gly) c.1012A>G (p.Ser338Gly) c.877-1602A>G (n.877-1602A>G) c.3061A>G (p.Ser1021Gly) c.3061-1602A>G (n.3061-1602A>G) c.2782A>G (p.Ser928Gly) c.2731-1602A>G (n.2731-1602A>G) c.1864A>G (p.Ser622Gly) n.3415A>G | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51944156T>G | CA388029946 | ATP7B | c.*894-1602A>C (n.*894-1602A>C) c.*1940A>C (n.*1940A>C) c.2575A>C (p.Ser859Arg) c.3196A>C (p.Ser1066Arg) c.2863A>C (p.Ser955Arg) c.2944A>C (p.Ser982Arg) c.2962A>C (p.Ser988Arg) n.3335A>C n.3559A>C c.2131A>C (p.Ser711Arg) c.1906A>C (p.Ser636Arg) c.3001A>C (p.Ser1001Arg) n.416A>C c.1022-1602A>C c.*297A>C (n.*297A>C) n.3940A>C n.2541A>C c.3052A>C (p.Ser1018Arg) c.3100A>C (p.Ser1034Arg) c.3160A>C (p.Ser1054Arg) c.2710A>C (p.Ser904Arg) c.1012A>C (p.Ser338Arg) c.877-1602A>C (n.877-1602A>C) c.3061A>C (p.Ser1021Arg) c.3061-1602A>C (n.3061-1602A>C) c.2782A>C (p.Ser928Arg) c.2731-1602A>C (n.2731-1602A>C) c.1864A>C (p.Ser622Arg) n.3415A>C | |
| 13 | g.51944156T= | CA2091563828 | ATP7B | c.*894-1602A= (n.*894-1602A=) c.*1940A= (n.*1940A=) c.2575A= (p.Ser859=) c.3196A= (p.Ser1066=) c.2863A= (p.Ser955=) c.2944A= (p.Ser982=) c.2962A= (p.Ser988=) n.3335A= n.3559A= c.2131A= (p.Ser711=) c.1906A= (p.Ser636=) c.3001A= (p.Ser1001=) n.416A= c.1022-1602A= c.*297A= (n.*297A=) n.3940A= n.2541A= c.3052A= (p.Ser1018=) c.3100A= (p.Ser1034=) c.3160A= (p.Ser1054=) c.2710A= (p.Ser904=) c.1012A= (p.Ser338=) c.877-1602A= (n.877-1602A=) c.3061A= (p.Ser1021=) c.3061-1602A= (n.3061-1602A=) c.2782A= (p.Ser928=) c.2731-1602A= (n.2731-1602A=) c.1864A= (p.Ser622=) n.3415A= | |
| 13 | g.51944157G>A | CA483894658 | ATP7B | c.*894-1603C>T (n.*894-1603C>T) c.*1939C>T (n.*1939C>T) c.2574C>T (p.Ala858=) c.3195C>T (p.Ala1065=) c.2862C>T (p.Ala954=) c.2943C>T (p.Ala981=) c.2961C>T (p.Ala987=) n.3334C>T n.3558C>T c.2130C>T (p.Ala710=) c.1905C>T (p.Ala635=) c.3000C>T (p.Ala1000=) n.415C>T c.1022-1603C>T c.*296C>T (n.*296C>T) n.3939C>T n.2540C>T c.3051C>T (p.Ala1017=) c.3099C>T (p.Ala1033=) c.3159C>T (p.Ala1053=) c.2709C>T (p.Ala903=) c.1011C>T (p.Ala337=) c.877-1603C>T (n.877-1603C>T) c.3060C>T (p.Ala1020=) c.3061-1603C>T (n.3061-1603C>T) c.2781C>T (p.Ala927=) c.2731-1603C>T (n.2731-1603C>T) c.1863C>T (p.Ala621=) n.3414C>T | |
| 13 | g.51944157G>C | CA483894659 | ATP7B | c.*894-1603C>G (n.*894-1603C>G) c.*1939C>G (n.*1939C>G) c.2574C>G (p.Ala858=) c.3195C>G (p.Ala1065=) c.2862C>G (p.Ala954=) c.2943C>G (p.Ala981=) c.2961C>G (p.Ala987=) n.3334C>G n.3558C>G c.2130C>G (p.Ala710=) c.1905C>G (p.Ala635=) c.3000C>G (p.Ala1000=) n.415C>G c.1022-1603C>G c.*296C>G (n.*296C>G) n.3939C>G n.2540C>G c.3051C>G (p.Ala1017=) c.3099C>G (p.Ala1033=) c.3159C>G (p.Ala1053=) c.2709C>G (p.Ala903=) c.1011C>G (p.Ala337=) c.877-1603C>G (n.877-1603C>G) c.3060C>G (p.Ala1020=) c.3061-1603C>G (n.3061-1603C>G) c.2781C>G (p.Ala927=) c.2731-1603C>G (n.2731-1603C>G) c.1863C>G (p.Ala621=) n.3414C>G | |
| 13 | g.51944157G>T | CA483894660 | ATP7B | c.*894-1603C>A (n.*894-1603C>A) c.*1939C>A (n.*1939C>A) c.2574C>A (p.Ala858=) c.3195C>A (p.Ala1065=) c.2862C>A (p.Ala954=) c.2943C>A (p.Ala981=) c.2961C>A (p.Ala987=) n.3334C>A n.3558C>A c.2130C>A (p.Ala710=) c.1905C>A (p.Ala635=) c.3000C>A (p.Ala1000=) n.415C>A c.1022-1603C>A c.*296C>A (n.*296C>A) n.3939C>A n.2540C>A c.3051C>A (p.Ala1017=) c.3099C>A (p.Ala1033=) c.3159C>A (p.Ala1053=) c.2709C>A (p.Ala903=) c.1011C>A (p.Ala337=) c.877-1603C>A (n.877-1603C>A) c.3060C>A (p.Ala1020=) c.3061-1603C>A (n.3061-1603C>A) c.2781C>A (p.Ala927=) c.2731-1603C>A (n.2731-1603C>A) c.1863C>A (p.Ala621=) n.3414C>A | |
| 13 | g.51944158G>A | CA388029954 | ATP7B | c.*894-1604C>T (n.*894-1604C>T) c.*1938C>T (n.*1938C>T) c.2573C>T (p.Ala858Val) c.3194C>T (p.Ala1065Val) c.2861C>T (p.Ala954Val) c.2942C>T (p.Ala981Val) c.2960C>T (p.Ala987Val) n.3333C>T n.3557C>T c.2129C>T (p.Ala710Val) c.1904C>T (p.Ala635Val) c.2999C>T (p.Ala1000Val) n.414C>T c.1022-1604C>T c.*295C>T (n.*295C>T) n.3938C>T n.2539C>T c.3050C>T (p.Ala1017Val) c.3098C>T (p.Ala1033Val) c.3158C>T (p.Ala1053Val) c.2708C>T (p.Ala903Val) c.1010C>T (p.Ala337Val) c.877-1604C>T (n.877-1604C>T) c.3059C>T (p.Ala1020Val) c.3061-1604C>T (n.3061-1604C>T) c.2780C>T (p.Ala927Val) c.2731-1604C>T (n.2731-1604C>T) c.1862C>T (p.Ala621Val) n.3413C>T | gnomAD v4 |
| 13 | g.51944158G>C | CA388029949 | ATP7B | c.*894-1604C>G (n.*894-1604C>G) c.*1938C>G (n.*1938C>G) c.2573C>G (p.Ala858Gly) c.3194C>G (p.Ala1065Gly) c.2861C>G (p.Ala954Gly) c.2942C>G (p.Ala981Gly) c.2960C>G (p.Ala987Gly) n.3333C>G n.3557C>G c.2129C>G (p.Ala710Gly) c.1904C>G (p.Ala635Gly) c.2999C>G (p.Ala1000Gly) n.414C>G c.1022-1604C>G c.*295C>G (n.*295C>G) n.3938C>G n.2539C>G c.3050C>G (p.Ala1017Gly) c.3098C>G (p.Ala1033Gly) c.3158C>G (p.Ala1053Gly) c.2708C>G (p.Ala903Gly) c.1010C>G (p.Ala337Gly) c.877-1604C>G (n.877-1604C>G) c.3059C>G (p.Ala1020Gly) c.3061-1604C>G (n.3061-1604C>G) c.2780C>G (p.Ala927Gly) c.2731-1604C>G (n.2731-1604C>G) c.1862C>G (p.Ala621Gly) n.3413C>G | |
| 13 | g.51944158G>T | CA388029952 | ATP7B | c.*894-1604C>A (n.*894-1604C>A) c.*1938C>A (n.*1938C>A) c.2573C>A (p.Ala858Asp) c.3194C>A (p.Ala1065Asp) c.2861C>A (p.Ala954Asp) c.2942C>A (p.Ala981Asp) c.2960C>A (p.Ala987Asp) n.3333C>A n.3557C>A c.2129C>A (p.Ala710Asp) c.1904C>A (p.Ala635Asp) c.2999C>A (p.Ala1000Asp) n.414C>A c.1022-1604C>A c.*295C>A (n.*295C>A) n.3938C>A n.2539C>A c.3050C>A (p.Ala1017Asp) c.3098C>A (p.Ala1033Asp) c.3158C>A (p.Ala1053Asp) c.2708C>A (p.Ala903Asp) c.1010C>A (p.Ala337Asp) c.877-1604C>A (n.877-1604C>A) c.3059C>A (p.Ala1020Asp) c.3061-1604C>A (n.3061-1604C>A) c.2780C>A (p.Ala927Asp) c.2731-1604C>A (n.2731-1604C>A) c.1862C>A (p.Ala621Asp) n.3413C>A | COSMIC |
| 13 | g.51944159C>A | CA388029957 | ATP7B | c.*894-1605G>T (n.*894-1605G>T) c.*1937G>T (n.*1937G>T) c.2572G>T (p.Ala858Ser) c.3193G>T (p.Ala1065Ser) c.2860G>T (p.Ala954Ser) c.2941G>T (p.Ala981Ser) c.2959G>T (p.Ala987Ser) n.3332G>T n.3556G>T c.2128G>T (p.Ala710Ser) c.1903G>T (p.Ala635Ser) c.2998G>T (p.Ala1000Ser) n.413G>T c.1022-1605G>T c.*294G>T (n.*294G>T) n.3937G>T n.2538G>T c.3049G>T (p.Ala1017Ser) c.3097G>T (p.Ala1033Ser) c.3157G>T (p.Ala1053Ser) c.2707G>T (p.Ala903Ser) c.1009G>T (p.Ala337Ser) c.877-1605G>T (n.877-1605G>T) c.3058G>T (p.Ala1020Ser) c.3061-1605G>T (n.3061-1605G>T) c.2779G>T (p.Ala927Ser) c.2731-1605G>T (n.2731-1605G>T) c.1861G>T (p.Ala621Ser) n.3412G>T | |
| 13 | g.51944159C>G | CA388029958 | ATP7B | c.*894-1605G>C (n.*894-1605G>C) c.*1937G>C (n.*1937G>C) c.2572G>C (p.Ala858Pro) c.3193G>C (p.Ala1065Pro) c.2860G>C (p.Ala954Pro) c.2941G>C (p.Ala981Pro) c.2959G>C (p.Ala987Pro) n.3332G>C n.3556G>C c.2128G>C (p.Ala710Pro) c.1903G>C (p.Ala635Pro) c.2998G>C (p.Ala1000Pro) n.413G>C c.1022-1605G>C c.*294G>C (n.*294G>C) n.3937G>C n.2538G>C c.3049G>C (p.Ala1017Pro) c.3097G>C (p.Ala1033Pro) c.3157G>C (p.Ala1053Pro) c.2707G>C (p.Ala903Pro) c.1009G>C (p.Ala337Pro) c.877-1605G>C (n.877-1605G>C) c.3058G>C (p.Ala1020Pro) c.3061-1605G>C (n.3061-1605G>C) c.2779G>C (p.Ala927Pro) c.2731-1605G>C (n.2731-1605G>C) c.1861G>C (p.Ala621Pro) n.3412G>C | |
| 13 | g.51944159C>T | CA388029959 | ATP7B | c.*894-1605G>A (n.*894-1605G>A) c.*1937G>A (n.*1937G>A) c.2572G>A (p.Ala858Thr) c.3193G>A (p.Ala1065Thr) c.2860G>A (p.Ala954Thr) c.2941G>A (p.Ala981Thr) c.2959G>A (p.Ala987Thr) n.3332G>A n.3556G>A c.2128G>A (p.Ala710Thr) c.1903G>A (p.Ala635Thr) c.2998G>A (p.Ala1000Thr) n.413G>A c.1022-1605G>A c.*294G>A (n.*294G>A) n.3937G>A n.2538G>A c.3049G>A (p.Ala1017Thr) c.3097G>A (p.Ala1033Thr) c.3157G>A (p.Ala1053Thr) c.2707G>A (p.Ala903Thr) c.1009G>A (p.Ala337Thr) c.877-1605G>A (n.877-1605G>A) c.3058G>A (p.Ala1020Thr) c.3061-1605G>A (n.3061-1605G>A) c.2779G>A (p.Ala927Thr) c.2731-1605G>A (n.2731-1605G>A) c.1861G>A (p.Ala621Thr) n.3412G>A | |
| 13 | g.51944160C>A | CA388029961 | ATP7B | c.*894-1606G>T (n.*894-1606G>T) c.*1936G>T (n.*1936G>T) c.2571G>T (p.Glu857Asp) c.3192G>T (p.Glu1064Asp) c.2859G>T (p.Glu953Asp) c.2940G>T (p.Glu980Asp) c.2958G>T (p.Glu986Asp) n.3331G>T n.3555G>T c.2127G>T (p.Glu709Asp) c.1902G>T (p.Glu634Asp) c.2997G>T (p.Glu999Asp) n.412G>T c.1022-1606G>T c.*293G>T (n.*293G>T) n.3936G>T n.2537G>T c.3048G>T (p.Glu1016Asp) c.3096G>T (p.Glu1032Asp) c.3156G>T (p.Glu1052Asp) c.2706G>T (p.Glu902Asp) c.1008G>T (p.Glu336Asp) c.877-1606G>T (n.877-1606G>T) c.3057G>T (p.Glu1019Asp) c.3061-1606G>T (n.3061-1606G>T) c.2778G>T (p.Glu926Asp) c.2731-1606G>T (n.2731-1606G>T) c.1860G>T (p.Glu620Asp) n.3411G>T | |
| 13 | g.51944160C>G | CA388029963 | ATP7B | c.*894-1606G>C (n.*894-1606G>C) c.*1936G>C (n.*1936G>C) c.2571G>C (p.Glu857Asp) c.3192G>C (p.Glu1064Asp) c.2859G>C (p.Glu953Asp) c.2940G>C (p.Glu980Asp) c.2958G>C (p.Glu986Asp) n.3331G>C n.3555G>C c.2127G>C (p.Glu709Asp) c.1902G>C (p.Glu634Asp) c.2997G>C (p.Glu999Asp) n.412G>C c.1022-1606G>C c.*293G>C (n.*293G>C) n.3936G>C n.2537G>C c.3048G>C (p.Glu1016Asp) c.3096G>C (p.Glu1032Asp) c.3156G>C (p.Glu1052Asp) c.2706G>C (p.Glu902Asp) c.1008G>C (p.Glu336Asp) c.877-1606G>C (n.877-1606G>C) c.3057G>C (p.Glu1019Asp) c.3061-1606G>C (n.3061-1606G>C) c.2778G>C (p.Glu926Asp) c.2731-1606G>C (n.2731-1606G>C) c.1860G>C (p.Glu620Asp) n.3411G>C | |
| 13 | g.51944160C>T | CA483894662 | ATP7B | c.*894-1606G>A (n.*894-1606G>A) c.*1936G>A (n.*1936G>A) c.2571G>A (p.Glu857=) c.3192G>A (p.Glu1064=) c.2859G>A (p.Glu953=) c.2940G>A (p.Glu980=) c.2958G>A (p.Glu986=) n.3331G>A n.3555G>A c.2127G>A (p.Glu709=) c.1902G>A (p.Glu634=) c.2997G>A (p.Glu999=) n.412G>A c.1022-1606G>A c.*293G>A (n.*293G>A) n.3936G>A n.2537G>A c.3048G>A (p.Glu1016=) c.3096G>A (p.Glu1032=) c.3156G>A (p.Glu1052=) c.2706G>A (p.Glu902=) c.1008G>A (p.Glu336=) c.877-1606G>A (n.877-1606G>A) c.3057G>A (p.Glu1019=) c.3061-1606G>A (n.3061-1606G>A) c.2778G>A (p.Glu926=) c.2731-1606G>A (n.2731-1606G>A) c.1860G>A (p.Glu620=) n.3411G>A | gnomAD v4 |
| 13 | g.51944161T>A | CA388029967 | ATP7B | c.*894-1607A>T (n.*894-1607A>T) c.*1935A>T (n.*1935A>T) c.2570A>T (p.Glu857Val) c.3191A>T (p.Glu1064Val) c.2858A>T (p.Glu953Val) c.2939A>T (p.Glu980Val) c.2957A>T (p.Glu986Val) n.3330A>T n.3554A>T c.2126A>T (p.Glu709Val) c.1901A>T (p.Glu634Val) c.2996A>T (p.Glu999Val) n.411A>T c.1022-1607A>T c.*292A>T (n.*292A>T) n.3935A>T n.2536A>T c.3047A>T (p.Glu1016Val) c.3095A>T (p.Glu1032Val) c.3155A>T (p.Glu1052Val) c.2705A>T (p.Glu902Val) c.1007A>T (p.Glu336Val) c.877-1607A>T (n.877-1607A>T) c.3056A>T (p.Glu1019Val) c.3061-1607A>T (n.3061-1607A>T) c.2777A>T (p.Glu926Val) c.2731-1607A>T (n.2731-1607A>T) c.1859A>T (p.Glu620Val) n.3410A>T | |
| 13 | g.51944161T>C | CA388029971 | ATP7B | c.*894-1607A>G (n.*894-1607A>G) c.*1935A>G (n.*1935A>G) c.2570A>G (p.Glu857Gly) c.3191A>G (p.Glu1064Gly) c.2858A>G (p.Glu953Gly) c.2939A>G (p.Glu980Gly) c.2957A>G (p.Glu986Gly) n.3330A>G n.3554A>G c.2126A>G (p.Glu709Gly) c.1901A>G (p.Glu634Gly) c.2996A>G (p.Glu999Gly) n.411A>G c.1022-1607A>G c.*292A>G (n.*292A>G) n.3935A>G n.2536A>G c.3047A>G (p.Glu1016Gly) c.3095A>G (p.Glu1032Gly) c.3155A>G (p.Glu1052Gly) c.2705A>G (p.Glu902Gly) c.1007A>G (p.Glu336Gly) c.877-1607A>G (n.877-1607A>G) c.3056A>G (p.Glu1019Gly) c.3061-1607A>G (n.3061-1607A>G) c.2777A>G (p.Glu926Gly) c.2731-1607A>G (n.2731-1607A>G) c.1859A>G (p.Glu620Gly) n.3410A>G | |
| 13 | g.51944161T>G | CA6988781 | ATP7B | c.*894-1607A>C (n.*894-1607A>C) c.*1935A>C (n.*1935A>C) c.2570A>C (p.Glu857Ala) c.3191A>C (p.Glu1064Ala) c.2858A>C (p.Glu953Ala) c.2939A>C (p.Glu980Ala) c.2957A>C (p.Glu986Ala) n.3330A>C n.3554A>C c.2126A>C (p.Glu709Ala) c.1901A>C (p.Glu634Ala) c.2996A>C (p.Glu999Ala) n.411A>C c.1022-1607A>C c.*292A>C (n.*292A>C) n.3935A>C n.2536A>C c.3047A>C (p.Glu1016Ala) c.3095A>C (p.Glu1032Ala) c.3155A>C (p.Glu1052Ala) c.2705A>C (p.Glu902Ala) c.1007A>C (p.Glu336Ala) c.877-1607A>C (n.877-1607A>C) c.3056A>C (p.Glu1019Ala) c.3061-1607A>C (n.3061-1607A>C) c.2777A>C (p.Glu926Ala) c.2731-1607A>C (n.2731-1607A>C) c.1859A>C (p.Glu620Ala) n.3410A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51944161T= | CA2091563833 | ATP7B | c.*894-1607A= (n.*894-1607A=) c.*1935A= (n.*1935A=) c.2570A= (p.Glu857=) c.3191A= (p.Glu1064=) c.2858A= (p.Glu953=) c.2939A= (p.Glu980=) c.2957A= (p.Glu986=) n.3330A= n.3554A= c.2126A= (p.Glu709=) c.1901A= (p.Glu634=) c.2996A= (p.Glu999=) n.411A= c.1022-1607A= c.*292A= (n.*292A=) n.3935A= n.2536A= c.3047A= (p.Glu1016=) c.3095A= (p.Glu1032=) c.3155A= (p.Glu1052=) c.2705A= (p.Glu902=) c.1007A= (p.Glu336=) c.877-1607A= (n.877-1607A=) c.3056A= (p.Glu1019=) c.3061-1607A= (n.3061-1607A=) c.2777A= (p.Glu926=) c.2731-1607A= (n.2731-1607A=) c.1859A= (p.Glu620=) n.3410A= | |
| 13 | g.51944162C>A | CA388029973 | ATP7B | c.*894-1608G>T (n.*894-1608G>T) c.*1934G>T (n.*1934G>T) c.2569G>T (p.Glu857Ter) c.3190G>T (p.Glu1064Ter) c.2857G>T (p.Glu953Ter) c.2938G>T (p.Glu980Ter) c.2956G>T (p.Glu986Ter) n.3329G>T n.3553G>T c.2125G>T (p.Glu709Ter) c.1900G>T (p.Glu634Ter) c.2995G>T (p.Glu999Ter) n.410G>T c.1022-1608G>T c.*291G>T (n.*291G>T) n.3934G>T n.2535G>T c.3046G>T (p.Glu1016Ter) c.3094G>T (p.Glu1032Ter) c.3154G>T (p.Glu1052Ter) c.2704G>T (p.Glu902Ter) c.1006G>T (p.Glu336Ter) c.877-1608G>T (n.877-1608G>T) c.3055G>T (p.Glu1019Ter) c.3061-1608G>T (n.3061-1608G>T) c.2776G>T (p.Glu926Ter) c.2731-1608G>T (n.2731-1608G>T) c.1858G>T (p.Glu620Ter) n.3409G>T | |
| 13 | g.51944162C= | CA2091563842 | ATP7B | c.*894-1608G= (n.*894-1608G=) c.*1934G= (n.*1934G=) c.2569G= (p.Glu857=) c.3190G= (p.Glu1064=) c.2857G= (p.Glu953=) c.2938G= (p.Glu980=) c.2956G= (p.Glu986=) n.3329G= n.3553G= c.2125G= (p.Glu709=) c.1900G= (p.Glu634=) c.2995G= (p.Glu999=) n.410G= c.1022-1608G= c.*291G= (n.*291G=) n.3934G= n.2535G= c.3046G= (p.Glu1016=) c.3094G= (p.Glu1032=) c.3154G= (p.Glu1052=) c.2704G= (p.Glu902=) c.1006G= (p.Glu336=) c.877-1608G= (n.877-1608G=) c.3055G= (p.Glu1019=) c.3061-1608G= (n.3061-1608G=) c.2776G= (p.Glu926=) c.2731-1608G= (n.2731-1608G=) c.1858G= (p.Glu620=) n.3409G= | |
| 13 | g.51944162C>G | CA388029975 | ATP7B | c.*894-1608G>C (n.*894-1608G>C) c.*1934G>C (n.*1934G>C) c.2569G>C (p.Glu857Gln) c.3190G>C (p.Glu1064Gln) c.2857G>C (p.Glu953Gln) c.2938G>C (p.Glu980Gln) c.2956G>C (p.Glu986Gln) n.3329G>C n.3553G>C c.2125G>C (p.Glu709Gln) c.1900G>C (p.Glu634Gln) c.2995G>C (p.Glu999Gln) n.410G>C c.1022-1608G>C c.*291G>C (n.*291G>C) n.3934G>C n.2535G>C c.3046G>C (p.Glu1016Gln) c.3094G>C (p.Glu1032Gln) c.3154G>C (p.Glu1052Gln) c.2704G>C (p.Glu902Gln) c.1006G>C (p.Glu336Gln) c.877-1608G>C (n.877-1608G>C) c.3055G>C (p.Glu1019Gln) c.3061-1608G>C (n.3061-1608G>C) c.2776G>C (p.Glu926Gln) c.2731-1608G>C (n.2731-1608G>C) c.1858G>C (p.Glu620Gln) n.3409G>C | |
| 13 | g.51944162C>T | CA6988782 | ATP7B | c.*894-1608G>A (n.*894-1608G>A) c.*1934G>A (n.*1934G>A) c.2569G>A (p.Glu857Lys) c.3190G>A (p.Glu1064Lys) c.2857G>A (p.Glu953Lys) c.2938G>A (p.Glu980Lys) c.2956G>A (p.Glu986Lys) n.3329G>A n.3553G>A c.2125G>A (p.Glu709Lys) c.1900G>A (p.Glu634Lys) c.2995G>A (p.Glu999Lys) n.410G>A c.1022-1608G>A c.*291G>A (n.*291G>A) n.3934G>A n.2535G>A c.3046G>A (p.Glu1016Lys) c.3094G>A (p.Glu1032Lys) c.3154G>A (p.Glu1052Lys) c.2704G>A (p.Glu902Lys) c.1006G>A (p.Glu336Lys) c.877-1608G>A (n.877-1608G>A) c.3055G>A (p.Glu1019Lys) c.3061-1608G>A (n.3061-1608G>A) c.2776G>A (p.Glu926Lys) c.2731-1608G>A (n.2731-1608G>A) c.1858G>A (p.Glu620Lys) n.3409G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51944163dup | CA2580087652 | ATP7B | c.*894-1608dup (n.*894-1608dup) c.*1934dup (n.*1934dup) c.2569dup (p.Glu857GlyfsTer5) c.3190dup (p.Glu1064GlyfsTer5) c.2857dup (p.Glu953GlyfsTer5) c.2938dup (p.Glu980GlyfsTer5) c.2956dup (p.Glu986GlyfsTer5) n.3329dup n.3553dup c.2125dup (p.Glu709GlyfsTer5) c.1900dup (p.Glu634GlyfsTer5) c.2995dup (p.Glu999GlyfsTer5) n.410dup c.1022-1608dup c.*291dup (n.*291dup) n.3934dup n.2535dup c.3046dup (p.Glu1016GlyfsTer5) c.3094dup (p.Glu1032GlyfsTer5) c.3154dup (p.Glu1052GlyfsTer5) c.2704dup (p.Glu902GlyfsTer5) c.1006dup (p.Glu336GlyfsTer5) c.877-1608dup (n.877-1608dup) c.3055dup (p.Glu1019GlyfsTer5) c.3061-1608dup (n.3061-1608dup) c.2776dup (p.Glu926GlyfsTer5) c.2731-1608dup (n.2731-1608dup) c.1858dup (p.Glu620GlyfsTer5) n.3409dup | ClinVar |