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.51944146T>A | CA388029880 | ATP7B | c.*894-1592A>T (n.*894-1592A>T) c.*1950A>T (n.*1950A>T) c.2585A>T (p.His862Leu) c.3206A>T (p.His1069Leu) c.2873A>T (p.His958Leu) c.2954A>T (p.His985Leu) c.2972A>T (p.His991Leu) n.3345A>T n.3569A>T c.2141A>T (p.His714Leu) c.1916A>T (p.His639Leu) c.3011A>T (p.His1004Leu) n.426A>T c.1022-1592A>T c.*307A>T (n.*307A>T) n.3950A>T n.2551A>T c.3062A>T (p.His1021Leu) c.3110A>T (p.His1037Leu) c.3170A>T (p.His1057Leu) c.2720A>T (p.His907Leu) c.1022A>T (p.His341Leu) c.877-1592A>T (n.877-1592A>T) c.3071A>T (p.His1024Leu) c.3061-1592A>T (n.3061-1592A>T) c.2792A>T (p.His931Leu) c.2731-1592A>T (n.2731-1592A>T) c.1874A>T (p.His625Leu) n.3425A>T | ClinVar |
| 13 | g.51944146T>C | CA388029883 | ATP7B | c.*894-1592A>G (n.*894-1592A>G) c.*1950A>G (n.*1950A>G) c.2585A>G (p.His862Arg) c.3206A>G (p.His1069Arg) c.2873A>G (p.His958Arg) c.2954A>G (p.His985Arg) c.2972A>G (p.His991Arg) n.3345A>G n.3569A>G c.2141A>G (p.His714Arg) c.1916A>G (p.His639Arg) c.3011A>G (p.His1004Arg) n.426A>G c.1022-1592A>G c.*307A>G (n.*307A>G) n.3950A>G n.2551A>G c.3062A>G (p.His1021Arg) c.3110A>G (p.His1037Arg) c.3170A>G (p.His1057Arg) c.2720A>G (p.His907Arg) c.1022A>G (p.His341Arg) c.877-1592A>G (n.877-1592A>G) c.3071A>G (p.His1024Arg) c.3061-1592A>G (n.3061-1592A>G) c.2792A>G (p.His931Arg) c.2731-1592A>G (n.2731-1592A>G) c.1874A>G (p.His625Arg) n.3425A>G | ClinVar dbSNP |
| 13 | g.51944146T>G | CA250080070 | ATP7B | c.*894-1592A>C (n.*894-1592A>C) c.*1950A>C (n.*1950A>C) c.2585A>C (p.His862Pro) c.3206A>C (p.His1069Pro) c.2873A>C (p.His958Pro) c.2954A>C (p.His985Pro) c.2972A>C (p.His991Pro) n.3345A>C n.3569A>C c.2141A>C (p.His714Pro) c.1916A>C (p.His639Pro) c.3011A>C (p.His1004Pro) n.426A>C c.1022-1592A>C c.*307A>C (n.*307A>C) n.3950A>C n.2551A>C c.3062A>C (p.His1021Pro) c.3110A>C (p.His1037Pro) c.3170A>C (p.His1057Pro) c.2720A>C (p.His907Pro) c.1022A>C (p.His341Pro) c.877-1592A>C (n.877-1592A>C) c.3071A>C (p.His1024Pro) c.3061-1592A>C (n.3061-1592A>C) c.2792A>C (p.His931Pro) c.2731-1592A>C (n.2731-1592A>C) c.1874A>C (p.His625Pro) n.3425A>C | dbSNP |
| 13 | g.51944146T= | CA2091563806 | ATP7B | c.*894-1592A= (n.*894-1592A=) c.*1950A= (n.*1950A=) c.2585A= (p.His862=) c.3206A= (p.His1069=) c.2873A= (p.His958=) c.2954A= (p.His985=) c.2972A= (p.His991=) n.3345A= n.3569A= c.2141A= (p.His714=) c.1916A= (p.His639=) c.3011A= (p.His1004=) n.426A= c.1022-1592A= c.*307A= (n.*307A=) n.3950A= n.2551A= c.3062A= (p.His1021=) c.3110A= (p.His1037=) c.3170A= (p.His1057=) c.2720A= (p.His907=) c.1022A= (p.His341=) c.877-1592A= (n.877-1592A=) c.3071A= (p.His1024=) c.3061-1592A= (n.3061-1592A=) c.2792A= (p.His931=) c.2731-1592A= (n.2731-1592A=) c.1874A= (p.His625=) n.3425A= | |
| 13 | g.51944147G>A | CA250080082 | ATP7B | c.*894-1593C>T (n.*894-1593C>T) c.*1949C>T (n.*1949C>T) c.2584C>T (p.His862Tyr) c.3205C>T (p.His1069Tyr) c.2872C>T (p.His958Tyr) c.2953C>T (p.His985Tyr) c.2971C>T (p.His991Tyr) n.3344C>T n.3568C>T c.2140C>T (p.His714Tyr) c.1915C>T (p.His639Tyr) c.3010C>T (p.His1004Tyr) n.425C>T c.1022-1593C>T c.*306C>T (n.*306C>T) n.3949C>T n.2550C>T c.3061C>T (p.His1021Tyr) c.3109C>T (p.His1037Tyr) c.3169C>T (p.His1057Tyr) c.2719C>T (p.His907Tyr) c.1021C>T (p.His341Tyr) c.877-1593C>T (n.877-1593C>T) c.3070C>T (p.His1024Tyr) c.3061-1593C>T (n.3061-1593C>T) c.2791C>T (p.His931Tyr) c.2731-1593C>T (n.2731-1593C>T) c.1873C>T (p.His625Tyr) n.3424C>T | dbSNP gnomAD v4 |
| 13 | g.51944147G>C | CA388029888 | ATP7B | c.*894-1593C>G (n.*894-1593C>G) c.*1949C>G (n.*1949C>G) c.2584C>G (p.His862Asp) c.3205C>G (p.His1069Asp) c.2872C>G (p.His958Asp) c.2953C>G (p.His985Asp) c.2971C>G (p.His991Asp) n.3344C>G n.3568C>G c.2140C>G (p.His714Asp) c.1915C>G (p.His639Asp) c.3010C>G (p.His1004Asp) n.425C>G c.1022-1593C>G c.*306C>G (n.*306C>G) n.3949C>G n.2550C>G c.3061C>G (p.His1021Asp) c.3109C>G (p.His1037Asp) c.3169C>G (p.His1057Asp) c.2719C>G (p.His907Asp) c.1021C>G (p.His341Asp) c.877-1593C>G (n.877-1593C>G) c.3070C>G (p.His1024Asp) c.3061-1593C>G (n.3061-1593C>G) c.2791C>G (p.His931Asp) c.2731-1593C>G (n.2731-1593C>G) c.1873C>G (p.His625Asp) n.3424C>G | |
| 13 | g.51944147G= | CA2091563810 | ATP7B | c.*894-1593C= (n.*894-1593C=) c.*1949C= (n.*1949C=) c.2584C= (p.His862=) c.3205C= (p.His1069=) c.2872C= (p.His958=) c.2953C= (p.His985=) c.2971C= (p.His991=) n.3344C= n.3568C= c.2140C= (p.His714=) c.1915C= (p.His639=) c.3010C= (p.His1004=) n.425C= c.1022-1593C= c.*306C= (n.*306C=) n.3949C= n.2550C= c.3061C= (p.His1021=) c.3109C= (p.His1037=) c.3169C= (p.His1057=) c.2719C= (p.His907=) c.1021C= (p.His341=) c.877-1593C= (n.877-1593C=) c.3070C= (p.His1024=) c.3061-1593C= (n.3061-1593C=) c.2791C= (p.His931=) c.2731-1593C= (n.2731-1593C=) c.1873C= (p.His625=) n.3424C= | |
| 13 | g.51944147G>T | CA388029895 | ATP7B | c.*894-1593C>A (n.*894-1593C>A) c.*1949C>A (n.*1949C>A) c.2584C>A (p.His862Asn) c.3205C>A (p.His1069Asn) c.2872C>A (p.His958Asn) c.2953C>A (p.His985Asn) c.2971C>A (p.His991Asn) n.3344C>A n.3568C>A c.2140C>A (p.His714Asn) c.1915C>A (p.His639Asn) c.3010C>A (p.His1004Asn) n.425C>A c.1022-1593C>A c.*306C>A (n.*306C>A) n.3949C>A n.2550C>A c.3061C>A (p.His1021Asn) c.3109C>A (p.His1037Asn) c.3169C>A (p.His1057Asn) c.2719C>A (p.His907Asn) c.1021C>A (p.His341Asn) c.877-1593C>A (n.877-1593C>A) c.3070C>A (p.His1024Asn) c.3061-1593C>A (n.3061-1593C>A) c.2791C>A (p.His931Asn) c.2731-1593C>A (n.2731-1593C>A) c.1873C>A (p.His625Asn) n.3424C>A | |
| 13 | g.51944148T>A | CA388029900 | ATP7B | c.*894-1594A>T (n.*894-1594A>T) c.*1948A>T (n.*1948A>T) c.2583A>T (p.Glu861Asp) c.3204A>T (p.Glu1068Asp) c.2871A>T (p.Glu957Asp) c.2952A>T (p.Glu984Asp) c.2970A>T (p.Glu990Asp) n.3343A>T n.3567A>T c.2139A>T (p.Glu713Asp) c.1914A>T (p.Glu638Asp) c.3009A>T (p.Glu1003Asp) n.424A>T c.1022-1594A>T c.*305A>T (n.*305A>T) n.3948A>T n.2549A>T c.3060A>T (p.Glu1020Asp) c.3108A>T (p.Glu1036Asp) c.3168A>T (p.Glu1056Asp) c.2718A>T (p.Glu906Asp) c.1020A>T (p.Glu340Asp) c.877-1594A>T (n.877-1594A>T) c.3069A>T (p.Glu1023Asp) c.3061-1594A>T (n.3061-1594A>T) c.2790A>T (p.Glu930Asp) c.2731-1594A>T (n.2731-1594A>T) c.1872A>T (p.Glu624Asp) n.3423A>T | |
| 13 | g.51944148T>C | CA483894652 | ATP7B | c.*894-1594A>G (n.*894-1594A>G) c.*1948A>G (n.*1948A>G) c.2583A>G (p.Glu861=) c.3204A>G (p.Glu1068=) c.2871A>G (p.Glu957=) c.2952A>G (p.Glu984=) c.2970A>G (p.Glu990=) n.3343A>G n.3567A>G c.2139A>G (p.Glu713=) c.1914A>G (p.Glu638=) c.3009A>G (p.Glu1003=) n.424A>G c.1022-1594A>G c.*305A>G (n.*305A>G) n.3948A>G n.2549A>G c.3060A>G (p.Glu1020=) c.3108A>G (p.Glu1036=) c.3168A>G (p.Glu1056=) c.2718A>G (p.Glu906=) c.1020A>G (p.Glu340=) c.877-1594A>G (n.877-1594A>G) c.3069A>G (p.Glu1023=) c.3061-1594A>G (n.3061-1594A>G) c.2790A>G (p.Glu930=) c.2731-1594A>G (n.2731-1594A>G) c.1872A>G (p.Glu624=) n.3423A>G | ClinVar dbSNP |
| 13 | g.51944148T>G | CA388029898 | ATP7B | c.*894-1594A>C (n.*894-1594A>C) c.*1948A>C (n.*1948A>C) c.2583A>C (p.Glu861Asp) c.3204A>C (p.Glu1068Asp) c.2871A>C (p.Glu957Asp) c.2952A>C (p.Glu984Asp) c.2970A>C (p.Glu990Asp) n.3343A>C n.3567A>C c.2139A>C (p.Glu713Asp) c.1914A>C (p.Glu638Asp) c.3009A>C (p.Glu1003Asp) n.424A>C c.1022-1594A>C c.*305A>C (n.*305A>C) n.3948A>C n.2549A>C c.3060A>C (p.Glu1020Asp) c.3108A>C (p.Glu1036Asp) c.3168A>C (p.Glu1056Asp) c.2718A>C (p.Glu906Asp) c.1020A>C (p.Glu340Asp) c.877-1594A>C (n.877-1594A>C) c.3069A>C (p.Glu1023Asp) c.3061-1594A>C (n.3061-1594A>C) c.2790A>C (p.Glu930Asp) c.2731-1594A>C (n.2731-1594A>C) c.1872A>C (p.Glu624Asp) n.3423A>C | |
| 13 | g.51944148T= | CA2091563811 | ATP7B | c.*894-1594A= (n.*894-1594A=) c.*1948A= (n.*1948A=) c.2583A= (p.Glu861=) c.3204A= (p.Glu1068=) c.2871A= (p.Glu957=) c.2952A= (p.Glu984=) c.2970A= (p.Glu990=) n.3343A= n.3567A= c.2139A= (p.Glu713=) c.1914A= (p.Glu638=) c.3009A= (p.Glu1003=) n.424A= c.1022-1594A= c.*305A= (n.*305A=) n.3948A= n.2549A= c.3060A= (p.Glu1020=) c.3108A= (p.Glu1036=) c.3168A= (p.Glu1056=) c.2718A= (p.Glu906=) c.1020A= (p.Glu340=) c.877-1594A= (n.877-1594A=) c.3069A= (p.Glu1023=) c.3061-1594A= (n.3061-1594A=) c.2790A= (p.Glu930=) c.2731-1594A= (n.2731-1594A=) c.1872A= (p.Glu624=) n.3423A= | |
| 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 |