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.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 |
| 13 | g.51944163C>A | CA483894664 | ATP7B | c.*894-1609G>T (n.*894-1609G>T) c.*1933G>T (n.*1933G>T) c.2568G>T (p.Ala856=) c.3189G>T (p.Ala1063=) c.2856G>T (p.Ala952=) c.2937G>T (p.Ala979=) c.2955G>T (p.Ala985=) n.3328G>T n.3552G>T c.2124G>T (p.Ala708=) c.1899G>T (p.Ala633=) c.2994G>T (p.Ala998=) n.409G>T c.1022-1609G>T c.*290G>T (n.*290G>T) n.3933G>T n.2534G>T c.3045G>T (p.Ala1015=) c.3093G>T (p.Ala1031=) c.3153G>T (p.Ala1051=) c.2703G>T (p.Ala901=) c.1005G>T (p.Ala335=) c.877-1609G>T (n.877-1609G>T) c.3054G>T (p.Ala1018=) c.3061-1609G>T (n.3061-1609G>T) c.2775G>T (p.Ala925=) c.2731-1609G>T (n.2731-1609G>T) c.1857G>T (p.Ala619=) n.3408G>T | |
| 13 | g.51944163C= | CA2091563846 | ATP7B | c.*894-1609G= (n.*894-1609G=) c.*1933G= (n.*1933G=) c.2568G= (p.Ala856=) c.3189G= (p.Ala1063=) c.2856G= (p.Ala952=) c.2937G= (p.Ala979=) c.2955G= (p.Ala985=) n.3328G= n.3552G= c.2124G= (p.Ala708=) c.1899G= (p.Ala633=) c.2994G= (p.Ala998=) n.409G= c.1022-1609G= c.*290G= (n.*290G=) n.3933G= n.2534G= c.3045G= (p.Ala1015=) c.3093G= (p.Ala1031=) c.3153G= (p.Ala1051=) c.2703G= (p.Ala901=) c.1005G= (p.Ala335=) c.877-1609G= (n.877-1609G=) c.3054G= (p.Ala1018=) c.3061-1609G= (n.3061-1609G=) c.2775G= (p.Ala925=) c.2731-1609G= (n.2731-1609G=) c.1857G= (p.Ala619=) n.3408G= | |
| 13 | g.51944163C>G | CA483894665 | ATP7B | c.*894-1609G>C (n.*894-1609G>C) c.*1933G>C (n.*1933G>C) c.2568G>C (p.Ala856=) c.3189G>C (p.Ala1063=) c.2856G>C (p.Ala952=) c.2937G>C (p.Ala979=) c.2955G>C (p.Ala985=) n.3328G>C n.3552G>C c.2124G>C (p.Ala708=) c.1899G>C (p.Ala633=) c.2994G>C (p.Ala998=) n.409G>C c.1022-1609G>C c.*290G>C (n.*290G>C) n.3933G>C n.2534G>C c.3045G>C (p.Ala1015=) c.3093G>C (p.Ala1031=) c.3153G>C (p.Ala1051=) c.2703G>C (p.Ala901=) c.1005G>C (p.Ala335=) c.877-1609G>C (n.877-1609G>C) c.3054G>C (p.Ala1018=) c.3061-1609G>C (n.3061-1609G>C) c.2775G>C (p.Ala925=) c.2731-1609G>C (n.2731-1609G>C) c.1857G>C (p.Ala619=) n.3408G>C | |
| 13 | g.51944163C>T | CA6988783 | ATP7B | c.*894-1609G>A (n.*894-1609G>A) c.*1933G>A (n.*1933G>A) c.2568G>A (p.Ala856=) c.3189G>A (p.Ala1063=) c.2856G>A (p.Ala952=) c.2937G>A (p.Ala979=) c.2955G>A (p.Ala985=) n.3328G>A n.3552G>A c.2124G>A (p.Ala708=) c.1899G>A (p.Ala633=) c.2994G>A (p.Ala998=) n.409G>A c.1022-1609G>A c.*290G>A (n.*290G>A) n.3933G>A n.2534G>A c.3045G>A (p.Ala1015=) c.3093G>A (p.Ala1031=) c.3153G>A (p.Ala1051=) c.2703G>A (p.Ala901=) c.1005G>A (p.Ala335=) c.877-1609G>A (n.877-1609G>A) c.3054G>A (p.Ala1018=) c.3061-1609G>A (n.3061-1609G>A) c.2775G>A (p.Ala925=) c.2731-1609G>A (n.2731-1609G>A) c.1857G>A (p.Ala619=) n.3408G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51944164G>A | CA171310 | ATP7B | c.*894-1610C>T (n.*894-1610C>T) c.*1932C>T (n.*1932C>T) c.2567C>T (p.Ala856Val) c.3188C>T (p.Ala1063Val) c.2855C>T (p.Ala952Val) c.2936C>T (p.Ala979Val) c.2954C>T (p.Ala985Val) n.3327C>T n.3551C>T c.2123C>T (p.Ala708Val) c.1898C>T (p.Ala633Val) c.2993C>T (p.Ala998Val) n.408C>T c.1022-1610C>T c.*289C>T (n.*289C>T) n.3932C>T n.2533C>T c.3044C>T (p.Ala1015Val) c.3092C>T (p.Ala1031Val) c.3152C>T (p.Ala1051Val) c.2702C>T (p.Ala901Val) c.1004C>T (p.Ala335Val) c.877-1610C>T (n.877-1610C>T) c.3053C>T (p.Ala1018Val) c.3061-1610C>T (n.3061-1610C>T) c.2774C>T (p.Ala925Val) c.2731-1610C>T (n.2731-1610C>T) c.1856C>T (p.Ala619Val) n.3407C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.51944164G>C | CA388029980 | ATP7B | c.*894-1610C>G (n.*894-1610C>G) c.*1932C>G (n.*1932C>G) c.2567C>G (p.Ala856Gly) c.3188C>G (p.Ala1063Gly) c.2855C>G (p.Ala952Gly) c.2936C>G (p.Ala979Gly) c.2954C>G (p.Ala985Gly) n.3327C>G n.3551C>G c.2123C>G (p.Ala708Gly) c.1898C>G (p.Ala633Gly) c.2993C>G (p.Ala998Gly) n.408C>G c.1022-1610C>G c.*289C>G (n.*289C>G) n.3932C>G n.2533C>G c.3044C>G (p.Ala1015Gly) c.3092C>G (p.Ala1031Gly) c.3152C>G (p.Ala1051Gly) c.2702C>G (p.Ala901Gly) c.1004C>G (p.Ala335Gly) c.877-1610C>G (n.877-1610C>G) c.3053C>G (p.Ala1018Gly) c.3061-1610C>G (n.3061-1610C>G) c.2774C>G (p.Ala925Gly) c.2731-1610C>G (n.2731-1610C>G) c.1856C>G (p.Ala619Gly) n.3407C>G | COSMIC |
| 13 | g.51944164G= | CA2091563850 | ATP7B | c.*894-1610C= (n.*894-1610C=) c.*1932C= (n.*1932C=) c.2567C= (p.Ala856=) c.3188C= (p.Ala1063=) c.2855C= (p.Ala952=) c.2936C= (p.Ala979=) c.2954C= (p.Ala985=) n.3327C= n.3551C= c.2123C= (p.Ala708=) c.1898C= (p.Ala633=) c.2993C= (p.Ala998=) n.408C= c.1022-1610C= c.*289C= (n.*289C=) n.3932C= n.2533C= c.3044C= (p.Ala1015=) c.3092C= (p.Ala1031=) c.3152C= (p.Ala1051=) c.2702C= (p.Ala901=) c.1004C= (p.Ala335=) c.877-1610C= (n.877-1610C=) c.3053C= (p.Ala1018=) c.3061-1610C= (n.3061-1610C=) c.2774C= (p.Ala925=) c.2731-1610C= (n.2731-1610C=) c.1856C= (p.Ala619=) n.3407C= | |
| 13 | g.51944164G>T | CA388029982 | ATP7B | c.*894-1610C>A (n.*894-1610C>A) c.*1932C>A (n.*1932C>A) c.2567C>A (p.Ala856Glu) c.3188C>A (p.Ala1063Glu) c.2855C>A (p.Ala952Glu) c.2936C>A (p.Ala979Glu) c.2954C>A (p.Ala985Glu) n.3327C>A n.3551C>A c.2123C>A (p.Ala708Glu) c.1898C>A (p.Ala633Glu) c.2993C>A (p.Ala998Glu) n.408C>A c.1022-1610C>A c.*289C>A (n.*289C>A) n.3932C>A n.2533C>A c.3044C>A (p.Ala1015Glu) c.3092C>A (p.Ala1031Glu) c.3152C>A (p.Ala1051Glu) c.2702C>A (p.Ala901Glu) c.1004C>A (p.Ala335Glu) c.877-1610C>A (n.877-1610C>A) c.3053C>A (p.Ala1018Glu) c.3061-1610C>A (n.3061-1610C>A) c.2774C>A (p.Ala925Glu) c.2731-1610C>A (n.2731-1610C>A) c.1856C>A (p.Ala619Glu) n.3407C>A | |
| 13 | g.51944165C>A | CA388029984 | ATP7B | c.*894-1611G>T (n.*894-1611G>T) c.*1931G>T (n.*1931G>T) c.2566G>T (p.Ala856Ser) c.3187G>T (p.Ala1063Ser) c.2854G>T (p.Ala952Ser) c.2935G>T (p.Ala979Ser) c.2953G>T (p.Ala985Ser) n.3326G>T n.3550G>T c.2122G>T (p.Ala708Ser) c.1897G>T (p.Ala633Ser) c.2992G>T (p.Ala998Ser) n.407G>T c.1022-1611G>T c.*288G>T (n.*288G>T) n.3931G>T n.2532G>T c.3043G>T (p.Ala1015Ser) c.3091G>T (p.Ala1031Ser) c.3151G>T (p.Ala1051Ser) c.2701G>T (p.Ala901Ser) c.1003G>T (p.Ala335Ser) c.877-1611G>T (n.877-1611G>T) c.3052G>T (p.Ala1018Ser) c.3061-1611G>T (n.3061-1611G>T) c.2773G>T (p.Ala925Ser) c.2731-1611G>T (n.2731-1611G>T) c.1855G>T (p.Ala619Ser) n.3406G>T | |
| 13 | g.51944165C>G | CA388029987 | ATP7B | c.*894-1611G>C (n.*894-1611G>C) c.*1931G>C (n.*1931G>C) c.2566G>C (p.Ala856Pro) c.3187G>C (p.Ala1063Pro) c.2854G>C (p.Ala952Pro) c.2935G>C (p.Ala979Pro) c.2953G>C (p.Ala985Pro) n.3326G>C n.3550G>C c.2122G>C (p.Ala708Pro) c.1897G>C (p.Ala633Pro) c.2992G>C (p.Ala998Pro) n.407G>C c.1022-1611G>C c.*288G>C (n.*288G>C) n.3931G>C n.2532G>C c.3043G>C (p.Ala1015Pro) c.3091G>C (p.Ala1031Pro) c.3151G>C (p.Ala1051Pro) c.2701G>C (p.Ala901Pro) c.1003G>C (p.Ala335Pro) c.877-1611G>C (n.877-1611G>C) c.3052G>C (p.Ala1018Pro) c.3061-1611G>C (n.3061-1611G>C) c.2773G>C (p.Ala925Pro) c.2731-1611G>C (n.2731-1611G>C) c.1855G>C (p.Ala619Pro) n.3406G>C | |
| 13 | g.51944165C>T | CA388029989 | ATP7B | c.*894-1611G>A (n.*894-1611G>A) c.*1931G>A (n.*1931G>A) c.2566G>A (p.Ala856Thr) c.3187G>A (p.Ala1063Thr) c.2854G>A (p.Ala952Thr) c.2935G>A (p.Ala979Thr) c.2953G>A (p.Ala985Thr) n.3326G>A n.3550G>A c.2122G>A (p.Ala708Thr) c.1897G>A (p.Ala633Thr) c.2992G>A (p.Ala998Thr) n.407G>A c.1022-1611G>A c.*288G>A (n.*288G>A) n.3931G>A n.2532G>A c.3043G>A (p.Ala1015Thr) c.3091G>A (p.Ala1031Thr) c.3151G>A (p.Ala1051Thr) c.2701G>A (p.Ala901Thr) c.1003G>A (p.Ala335Thr) c.877-1611G>A (n.877-1611G>A) c.3052G>A (p.Ala1018Thr) c.3061-1611G>A (n.3061-1611G>A) c.2773G>A (p.Ala925Thr) c.2731-1611G>A (n.2731-1611G>A) c.1855G>A (p.Ala619Thr) n.3406G>A | ClinVar dbSNP |
| 13 | g.51944166A>C | CA483894670 | ATP7B | c.*894-1612T>G (n.*894-1612T>G) c.*1930T>G (n.*1930T>G) c.2565T>G (p.Thr855=) c.3186T>G (p.Thr1062=) c.2853T>G (p.Thr951=) c.2934T>G (p.Thr978=) c.2952T>G (p.Thr984=) n.3325T>G n.3549T>G c.2121T>G (p.Thr707=) c.1896T>G (p.Thr632=) c.2991T>G (p.Thr997=) n.406T>G c.1022-1612T>G c.*287T>G (n.*287T>G) n.3930T>G n.2531T>G c.3042T>G (p.Thr1014=) c.3090T>G (p.Thr1030=) c.3150T>G (p.Thr1050=) c.2700T>G (p.Thr900=) c.1002T>G (p.Thr334=) c.877-1612T>G (n.877-1612T>G) c.3051T>G (p.Thr1017=) c.3061-1612T>G (n.3061-1612T>G) c.2772T>G (p.Thr924=) c.2731-1612T>G (n.2731-1612T>G) c.1854T>G (p.Thr618=) n.3405T>G | |
| 13 | g.51944166A>G | CA483894668 | ATP7B | c.*894-1612T>C (n.*894-1612T>C) c.*1930T>C (n.*1930T>C) c.2565T>C (p.Thr855=) c.3186T>C (p.Thr1062=) c.2853T>C (p.Thr951=) c.2934T>C (p.Thr978=) c.2952T>C (p.Thr984=) n.3325T>C n.3549T>C c.2121T>C (p.Thr707=) c.1896T>C (p.Thr632=) c.2991T>C (p.Thr997=) n.406T>C c.1022-1612T>C c.*287T>C (n.*287T>C) n.3930T>C n.2531T>C c.3042T>C (p.Thr1014=) c.3090T>C (p.Thr1030=) c.3150T>C (p.Thr1050=) c.2700T>C (p.Thr900=) c.1002T>C (p.Thr334=) c.877-1612T>C (n.877-1612T>C) c.3051T>C (p.Thr1017=) c.3061-1612T>C (n.3061-1612T>C) c.2772T>C (p.Thr924=) c.2731-1612T>C (n.2731-1612T>C) c.1854T>C (p.Thr618=) n.3405T>C | ClinVar gnomAD v4 |
| 13 | g.51944166A>T | CA483894669 | ATP7B | c.*894-1612T>A (n.*894-1612T>A) c.*1930T>A (n.*1930T>A) c.2565T>A (p.Thr855=) c.3186T>A (p.Thr1062=) c.2853T>A (p.Thr951=) c.2934T>A (p.Thr978=) c.2952T>A (p.Thr984=) n.3325T>A n.3549T>A c.2121T>A (p.Thr707=) c.1896T>A (p.Thr632=) c.2991T>A (p.Thr997=) n.406T>A c.1022-1612T>A c.*287T>A (n.*287T>A) n.3930T>A n.2531T>A c.3042T>A (p.Thr1014=) c.3090T>A (p.Thr1030=) c.3150T>A (p.Thr1050=) c.2700T>A (p.Thr900=) c.1002T>A (p.Thr334=) c.877-1612T>A (n.877-1612T>A) c.3051T>A (p.Thr1017=) c.3061-1612T>A (n.3061-1612T>A) c.2772T>A (p.Thr924=) c.2731-1612T>A (n.2731-1612T>A) c.1854T>A (p.Thr618=) n.3405T>A | COSMIC |
| 13 | g.51944167G>A | CA6988784 | ATP7B | c.*894-1613C>T (n.*894-1613C>T) c.*1929C>T (n.*1929C>T) c.2564C>T (p.Thr855Ile) c.3185C>T (p.Thr1062Ile) c.2852C>T (p.Thr951Ile) c.2933C>T (p.Thr978Ile) c.2951C>T (p.Thr984Ile) n.3324C>T n.3548C>T c.2120C>T (p.Thr707Ile) c.1895C>T (p.Thr632Ile) c.2990C>T (p.Thr997Ile) n.405C>T c.1022-1613C>T c.*286C>T (n.*286C>T) n.3929C>T n.2530C>T c.3041C>T (p.Thr1014Ile) c.3089C>T (p.Thr1030Ile) c.3149C>T (p.Thr1050Ile) c.2699C>T (p.Thr900Ile) c.1001C>T (p.Thr334Ile) c.877-1613C>T (n.877-1613C>T) c.3050C>T (p.Thr1017Ile) c.3061-1613C>T (n.3061-1613C>T) c.2771C>T (p.Thr924Ile) c.2731-1613C>T (n.2731-1613C>T) c.1853C>T (p.Thr618Ile) n.3404C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51944167G>C | CA388029993 | ATP7B | c.*894-1613C>G (n.*894-1613C>G) c.*1929C>G (n.*1929C>G) c.2564C>G (p.Thr855Ser) c.3185C>G (p.Thr1062Ser) c.2852C>G (p.Thr951Ser) c.2933C>G (p.Thr978Ser) c.2951C>G (p.Thr984Ser) n.3324C>G n.3548C>G c.2120C>G (p.Thr707Ser) c.1895C>G (p.Thr632Ser) c.2990C>G (p.Thr997Ser) n.405C>G c.1022-1613C>G c.*286C>G (n.*286C>G) n.3929C>G n.2530C>G c.3041C>G (p.Thr1014Ser) c.3089C>G (p.Thr1030Ser) c.3149C>G (p.Thr1050Ser) c.2699C>G (p.Thr900Ser) c.1001C>G (p.Thr334Ser) c.877-1613C>G (n.877-1613C>G) c.3050C>G (p.Thr1017Ser) c.3061-1613C>G (n.3061-1613C>G) c.2771C>G (p.Thr924Ser) c.2731-1613C>G (n.2731-1613C>G) c.1853C>G (p.Thr618Ser) n.3404C>G | |
| 13 | g.51944167G= | CA2091563856 | ATP7B | c.*894-1613C= (n.*894-1613C=) c.*1929C= (n.*1929C=) c.2564C= (p.Thr855=) c.3185C= (p.Thr1062=) c.2852C= (p.Thr951=) c.2933C= (p.Thr978=) c.2951C= (p.Thr984=) n.3324C= n.3548C= c.2120C= (p.Thr707=) c.1895C= (p.Thr632=) c.2990C= (p.Thr997=) n.405C= c.1022-1613C= c.*286C= (n.*286C=) n.3929C= n.2530C= c.3041C= (p.Thr1014=) c.3089C= (p.Thr1030=) c.3149C= (p.Thr1050=) c.2699C= (p.Thr900=) c.1001C= (p.Thr334=) c.877-1613C= (n.877-1613C=) c.3050C= (p.Thr1017=) c.3061-1613C= (n.3061-1613C=) c.2771C= (p.Thr924=) c.2731-1613C= (n.2731-1613C=) c.1853C= (p.Thr618=) n.3404C= | |
| 13 | g.51944167G>T | CA388029994 | ATP7B | c.*894-1613C>A (n.*894-1613C>A) c.*1929C>A (n.*1929C>A) c.2564C>A (p.Thr855Asn) c.3185C>A (p.Thr1062Asn) c.2852C>A (p.Thr951Asn) c.2933C>A (p.Thr978Asn) c.2951C>A (p.Thr984Asn) n.3324C>A n.3548C>A c.2120C>A (p.Thr707Asn) c.1895C>A (p.Thr632Asn) c.2990C>A (p.Thr997Asn) n.405C>A c.1022-1613C>A c.*286C>A (n.*286C>A) n.3929C>A n.2530C>A c.3041C>A (p.Thr1014Asn) c.3089C>A (p.Thr1030Asn) c.3149C>A (p.Thr1050Asn) c.2699C>A (p.Thr900Asn) c.1001C>A (p.Thr334Asn) c.877-1613C>A (n.877-1613C>A) c.3050C>A (p.Thr1017Asn) c.3061-1613C>A (n.3061-1613C>A) c.2771C>A (p.Thr924Asn) c.2731-1613C>A (n.2731-1613C>A) c.1853C>A (p.Thr618Asn) n.3404C>A | |
| 13 | g.51944168T>A | CA388029996 | ATP7B | c.*894-1614A>T (n.*894-1614A>T) c.*1928A>T (n.*1928A>T) c.2563A>T (p.Thr855Ser) c.3184A>T (p.Thr1062Ser) c.2851A>T (p.Thr951Ser) c.2932A>T (p.Thr978Ser) c.2950A>T (p.Thr984Ser) n.3323A>T n.3547A>T c.2119A>T (p.Thr707Ser) c.1894A>T (p.Thr632Ser) c.2989A>T (p.Thr997Ser) n.404A>T c.1022-1614A>T c.*285A>T (n.*285A>T) n.3928A>T n.2529A>T c.3040A>T (p.Thr1014Ser) c.3088A>T (p.Thr1030Ser) c.3148A>T (p.Thr1050Ser) c.2698A>T (p.Thr900Ser) c.1000A>T (p.Thr334Ser) c.877-1614A>T (n.877-1614A>T) c.3049A>T (p.Thr1017Ser) c.3061-1614A>T (n.3061-1614A>T) c.2770A>T (p.Thr924Ser) c.2731-1614A>T (n.2731-1614A>T) c.1852A>T (p.Thr618Ser) n.3403A>T | |
| 13 | g.51944168T>C | CA388030002 | ATP7B | c.*894-1614A>G (n.*894-1614A>G) c.*1928A>G (n.*1928A>G) c.2563A>G (p.Thr855Ala) c.3184A>G (p.Thr1062Ala) c.2851A>G (p.Thr951Ala) c.2932A>G (p.Thr978Ala) c.2950A>G (p.Thr984Ala) n.3323A>G n.3547A>G c.2119A>G (p.Thr707Ala) c.1894A>G (p.Thr632Ala) c.2989A>G (p.Thr997Ala) n.404A>G c.1022-1614A>G c.*285A>G (n.*285A>G) n.3928A>G n.2529A>G c.3040A>G (p.Thr1014Ala) c.3088A>G (p.Thr1030Ala) c.3148A>G (p.Thr1050Ala) c.2698A>G (p.Thr900Ala) c.1000A>G (p.Thr334Ala) c.877-1614A>G (n.877-1614A>G) c.3049A>G (p.Thr1017Ala) c.3061-1614A>G (n.3061-1614A>G) c.2770A>G (p.Thr924Ala) c.2731-1614A>G (n.2731-1614A>G) c.1852A>G (p.Thr618Ala) n.3403A>G | |
| 13 | g.51944168T>G | CA388029999 | ATP7B | c.*894-1614A>C (n.*894-1614A>C) c.*1928A>C (n.*1928A>C) c.2563A>C (p.Thr855Pro) c.3184A>C (p.Thr1062Pro) c.2851A>C (p.Thr951Pro) c.2932A>C (p.Thr978Pro) c.2950A>C (p.Thr984Pro) n.3323A>C n.3547A>C c.2119A>C (p.Thr707Pro) c.1894A>C (p.Thr632Pro) c.2989A>C (p.Thr997Pro) n.404A>C c.1022-1614A>C c.*285A>C (n.*285A>C) n.3928A>C n.2529A>C c.3040A>C (p.Thr1014Pro) c.3088A>C (p.Thr1030Pro) c.3148A>C (p.Thr1050Pro) c.2698A>C (p.Thr900Pro) c.1000A>C (p.Thr334Pro) c.877-1614A>C (n.877-1614A>C) c.3049A>C (p.Thr1017Pro) c.3061-1614A>C (n.3061-1614A>C) c.2770A>C (p.Thr924Pro) c.2731-1614A>C (n.2731-1614A>C) c.1852A>C (p.Thr618Pro) n.3403A>C | |
| 13 | g.51944169C>A | CA250080102 | ATP7B | c.*894-1615G>T (n.*894-1615G>T) c.*1927G>T (n.*1927G>T) c.2562G>T (p.Gly854=) c.3183G>T (p.Gly1061=) c.2850G>T (p.Gly950=) c.2931G>T (p.Gly977=) c.2949G>T (p.Gly983=) n.3322G>T n.3546G>T c.2118G>T (p.Gly706=) c.1893G>T (p.Gly631=) c.2988G>T (p.Gly996=) n.403G>T c.1022-1615G>T c.*284G>T (n.*284G>T) n.3927G>T n.2528G>T c.3039G>T (p.Gly1013=) c.3087G>T (p.Gly1029=) c.3147G>T (p.Gly1049=) c.2697G>T (p.Gly899=) c.999G>T (p.Gly333=) c.877-1615G>T (n.877-1615G>T) c.3048G>T (p.Gly1016=) c.3061-1615G>T (n.3061-1615G>T) c.2769G>T (p.Gly923=) c.2731-1615G>T (n.2731-1615G>T) c.1851G>T (p.Gly617=) n.3402G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51944169C= | CA2091563863 | ATP7B | c.*894-1615G= (n.*894-1615G=) c.*1927G= (n.*1927G=) c.2562G= (p.Gly854=) c.3183G= (p.Gly1061=) c.2850G= (p.Gly950=) c.2931G= (p.Gly977=) c.2949G= (p.Gly983=) n.3322G= n.3546G= c.2118G= (p.Gly706=) c.1893G= (p.Gly631=) c.2988G= (p.Gly996=) n.403G= c.1022-1615G= c.*284G= (n.*284G=) n.3927G= n.2528G= c.3039G= (p.Gly1013=) c.3087G= (p.Gly1029=) c.3147G= (p.Gly1049=) c.2697G= (p.Gly899=) c.999G= (p.Gly333=) c.877-1615G= (n.877-1615G=) c.3048G= (p.Gly1016=) c.3061-1615G= (n.3061-1615G=) c.2769G= (p.Gly923=) c.2731-1615G= (n.2731-1615G=) c.1851G= (p.Gly617=) n.3402G= | |
| 13 | g.51944169C>G | CA483894674 | ATP7B | c.*894-1615G>C (n.*894-1615G>C) c.*1927G>C (n.*1927G>C) c.2562G>C (p.Gly854=) c.3183G>C (p.Gly1061=) c.2850G>C (p.Gly950=) c.2931G>C (p.Gly977=) c.2949G>C (p.Gly983=) n.3322G>C n.3546G>C c.2118G>C (p.Gly706=) c.1893G>C (p.Gly631=) c.2988G>C (p.Gly996=) n.403G>C c.1022-1615G>C c.*284G>C (n.*284G>C) n.3927G>C n.2528G>C c.3039G>C (p.Gly1013=) c.3087G>C (p.Gly1029=) c.3147G>C (p.Gly1049=) c.2697G>C (p.Gly899=) c.999G>C (p.Gly333=) c.877-1615G>C (n.877-1615G>C) c.3048G>C (p.Gly1016=) c.3061-1615G>C (n.3061-1615G>C) c.2769G>C (p.Gly923=) c.2731-1615G>C (n.2731-1615G>C) c.1851G>C (p.Gly617=) n.3402G>C | |
| 13 | g.51944169C>T | CA483894675 | ATP7B | c.*894-1615G>A (n.*894-1615G>A) c.*1927G>A (n.*1927G>A) c.2562G>A (p.Gly854=) c.3183G>A (p.Gly1061=) c.2850G>A (p.Gly950=) c.2931G>A (p.Gly977=) c.2949G>A (p.Gly983=) n.3322G>A n.3546G>A c.2118G>A (p.Gly706=) c.1893G>A (p.Gly631=) c.2988G>A (p.Gly996=) n.403G>A c.1022-1615G>A c.*284G>A (n.*284G>A) n.3927G>A n.2528G>A c.3039G>A (p.Gly1013=) c.3087G>A (p.Gly1029=) c.3147G>A (p.Gly1049=) c.2697G>A (p.Gly899=) c.999G>A (p.Gly333=) c.877-1615G>A (n.877-1615G>A) c.3048G>A (p.Gly1016=) c.3061-1615G>A (n.3061-1615G>A) c.2769G>A (p.Gly923=) c.2731-1615G>A (n.2731-1615G>A) c.1851G>A (p.Gly617=) n.3402G>A | |
| 13 | g.51944172del | CA2573149708 | ATP7B | c.*894-1615del (n.*894-1615del) c.*1927del (n.*1927del) c.2562del (p.Thr855LeufsTer?) c.3183del (p.Thr1062LeufsTer?) c.2850del (p.Thr951LeufsTer?) c.2931del (p.Thr978LeufsTer?) c.2949del (p.Thr984LeufsTer?) n.3322del n.3546del c.2118del (p.Thr707LeufsTer?) c.1893del (p.Thr632LeufsTer?) c.2988del (p.Thr997LeufsTer?) n.403del c.1022-1615del c.*284del (n.*284del) n.3927del n.2528del c.3039del (p.Thr1014LeufsTer?) c.3087del (p.Thr1030LeufsTer?) c.3147del (p.Thr1050LeufsTer?) c.2697del (p.Thr900LeufsTer?) c.999del (p.Thr334LeufsTer?) c.877-1615del (n.877-1615del) c.3048del (p.Thr1017LeufsTer?) c.3061-1615del (n.3061-1615del) c.2769del (p.Thr924LeufsTer?) c.2731-1615del (n.2731-1615del) c.1851del (p.Thr618LeufsTer?) n.3402del | ClinVar dbSNP |
| 13 | g.51944170C>A | CA388030004 | ATP7B | c.*894-1616G>T (n.*894-1616G>T) c.*1926G>T (n.*1926G>T) c.2561G>T (p.Gly854Val) c.3182G>T (p.Gly1061Val) c.2849G>T (p.Gly950Val) c.2930G>T (p.Gly977Val) c.2948G>T (p.Gly983Val) n.3321G>T n.3545G>T c.2117G>T (p.Gly706Val) c.1892G>T (p.Gly631Val) c.2987G>T (p.Gly996Val) n.402G>T c.1022-1616G>T c.*283G>T (n.*283G>T) n.3926G>T n.2527G>T c.3038G>T (p.Gly1013Val) c.3086G>T (p.Gly1029Val) c.3146G>T (p.Gly1049Val) c.2696G>T (p.Gly899Val) c.998G>T (p.Gly333Val) c.877-1616G>T (n.877-1616G>T) c.3047G>T (p.Gly1016Val) c.3061-1616G>T (n.3061-1616G>T) c.2768G>T (p.Gly923Val) c.2731-1616G>T (n.2731-1616G>T) c.1850G>T (p.Gly617Val) n.3401G>T | |
| 13 | g.51944170C= | CA2091563869 | ATP7B | c.*894-1616G= (n.*894-1616G=) c.*1926G= (n.*1926G=) c.2561G= (p.Gly854=) c.3182G= (p.Gly1061=) c.2849G= (p.Gly950=) c.2930G= (p.Gly977=) c.2948G= (p.Gly983=) n.3321G= n.3545G= c.2117G= (p.Gly706=) c.1892G= (p.Gly631=) c.2987G= (p.Gly996=) n.402G= c.1022-1616G= c.*283G= (n.*283G=) n.3926G= n.2527G= c.3038G= (p.Gly1013=) c.3086G= (p.Gly1029=) c.3146G= (p.Gly1049=) c.2696G= (p.Gly899=) c.998G= (p.Gly333=) c.877-1616G= (n.877-1616G=) c.3047G= (p.Gly1016=) c.3061-1616G= (n.3061-1616G=) c.2768G= (p.Gly923=) c.2731-1616G= (n.2731-1616G=) c.1850G= (p.Gly617=) n.3401G= | |
| 13 | g.51944170C>G | CA388030005 | ATP7B | c.*894-1616G>C (n.*894-1616G>C) c.*1926G>C (n.*1926G>C) c.2561G>C (p.Gly854Ala) c.3182G>C (p.Gly1061Ala) c.2849G>C (p.Gly950Ala) c.2930G>C (p.Gly977Ala) c.2948G>C (p.Gly983Ala) n.3321G>C n.3545G>C c.2117G>C (p.Gly706Ala) c.1892G>C (p.Gly631Ala) c.2987G>C (p.Gly996Ala) n.402G>C c.1022-1616G>C c.*283G>C (n.*283G>C) n.3926G>C n.2527G>C c.3038G>C (p.Gly1013Ala) c.3086G>C (p.Gly1029Ala) c.3146G>C (p.Gly1049Ala) c.2696G>C (p.Gly899Ala) c.998G>C (p.Gly333Ala) c.877-1616G>C (n.877-1616G>C) c.3047G>C (p.Gly1016Ala) c.3061-1616G>C (n.3061-1616G>C) c.2768G>C (p.Gly923Ala) c.2731-1616G>C (n.2731-1616G>C) c.1850G>C (p.Gly617Ala) n.3401G>C | |
| 13 | g.51944170C>T | CA6988785 | ATP7B | c.*894-1616G>A (n.*894-1616G>A) c.*1926G>A (n.*1926G>A) c.2561G>A (p.Gly854Glu) c.3182G>A (p.Gly1061Glu) c.2849G>A (p.Gly950Glu) c.2930G>A (p.Gly977Glu) c.2948G>A (p.Gly983Glu) n.3321G>A n.3545G>A c.2117G>A (p.Gly706Glu) c.1892G>A (p.Gly631Glu) c.2987G>A (p.Gly996Glu) n.402G>A c.1022-1616G>A c.*283G>A (n.*283G>A) n.3926G>A n.2527G>A c.3038G>A (p.Gly1013Glu) c.3086G>A (p.Gly1029Glu) c.3146G>A (p.Gly1049Glu) c.2696G>A (p.Gly899Glu) c.998G>A (p.Gly333Glu) c.877-1616G>A (n.877-1616G>A) c.3047G>A (p.Gly1016Glu) c.3061-1616G>A (n.3061-1616G>A) c.2768G>A (p.Gly923Glu) c.2731-1616G>A (n.2731-1616G>A) c.1850G>A (p.Gly617Glu) n.3401G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51944171C>A | CA388030009 | ATP7B | c.*894-1617G>T (n.*894-1617G>T) c.*1925G>T (n.*1925G>T) c.2560G>T (p.Gly854Trp) c.3181G>T (p.Gly1061Trp) c.2848G>T (p.Gly950Trp) c.2929G>T (p.Gly977Trp) c.2947G>T (p.Gly983Trp) n.3320G>T n.3544G>T c.2116G>T (p.Gly706Trp) c.1891G>T (p.Gly631Trp) c.2986G>T (p.Gly996Trp) n.401G>T c.1022-1617G>T c.*282G>T (n.*282G>T) n.3925G>T n.2526G>T c.3037G>T (p.Gly1013Trp) c.3085G>T (p.Gly1029Trp) c.3145G>T (p.Gly1049Trp) c.2695G>T (p.Gly899Trp) c.997G>T (p.Gly333Trp) c.877-1617G>T (n.877-1617G>T) c.3046G>T (p.Gly1016Trp) c.3061-1617G>T (n.3061-1617G>T) c.2767G>T (p.Gly923Trp) c.2731-1617G>T (n.2731-1617G>T) c.1849G>T (p.Gly617Trp) n.3400G>T | |
| 13 | g.51944171C= | CA2091563873 | ATP7B | c.*894-1617G= (n.*894-1617G=) c.*1925G= (n.*1925G=) c.2560G= (p.Gly854=) c.3181G= (p.Gly1061=) c.2848G= (p.Gly950=) c.2929G= (p.Gly977=) c.2947G= (p.Gly983=) n.3320G= n.3544G= c.2116G= (p.Gly706=) c.1891G= (p.Gly631=) c.2986G= (p.Gly996=) n.401G= c.1022-1617G= c.*282G= (n.*282G=) n.3925G= n.2526G= c.3037G= (p.Gly1013=) c.3085G= (p.Gly1029=) c.3145G= (p.Gly1049=) c.2695G= (p.Gly899=) c.997G= (p.Gly333=) c.877-1617G= (n.877-1617G=) c.3046G= (p.Gly1016=) c.3061-1617G= (n.3061-1617G=) c.2767G= (p.Gly923=) c.2731-1617G= (n.2731-1617G=) c.1849G= (p.Gly617=) n.3400G= | |
| 13 | g.51944171C>G | CA388030012 | ATP7B | c.*894-1617G>C (n.*894-1617G>C) c.*1925G>C (n.*1925G>C) c.2560G>C (p.Gly854Arg) c.3181G>C (p.Gly1061Arg) c.2848G>C (p.Gly950Arg) c.2929G>C (p.Gly977Arg) c.2947G>C (p.Gly983Arg) n.3320G>C n.3544G>C c.2116G>C (p.Gly706Arg) c.1891G>C (p.Gly631Arg) c.2986G>C (p.Gly996Arg) n.401G>C c.1022-1617G>C c.*282G>C (n.*282G>C) n.3925G>C n.2526G>C c.3037G>C (p.Gly1013Arg) c.3085G>C (p.Gly1029Arg) c.3145G>C (p.Gly1049Arg) c.2695G>C (p.Gly899Arg) c.997G>C (p.Gly333Arg) c.877-1617G>C (n.877-1617G>C) c.3046G>C (p.Gly1016Arg) c.3061-1617G>C (n.3061-1617G>C) c.2767G>C (p.Gly923Arg) c.2731-1617G>C (n.2731-1617G>C) c.1849G>C (p.Gly617Arg) n.3400G>C | |
| 13 | g.51944171C>T | CA388030013 | ATP7B | c.*894-1617G>A (n.*894-1617G>A) c.*1925G>A (n.*1925G>A) c.2560G>A (p.Gly854Arg) c.3181G>A (p.Gly1061Arg) c.2848G>A (p.Gly950Arg) c.2929G>A (p.Gly977Arg) c.2947G>A (p.Gly983Arg) n.3320G>A n.3544G>A c.2116G>A (p.Gly706Arg) c.1891G>A (p.Gly631Arg) c.2986G>A (p.Gly996Arg) n.401G>A c.1022-1617G>A c.*282G>A (n.*282G>A) n.3925G>A n.2526G>A c.3037G>A (p.Gly1013Arg) c.3085G>A (p.Gly1029Arg) c.3145G>A (p.Gly1049Arg) c.2695G>A (p.Gly899Arg) c.997G>A (p.Gly333Arg) c.877-1617G>A (n.877-1617G>A) c.3046G>A (p.Gly1016Arg) c.3061-1617G>A (n.3061-1617G>A) c.2767G>A (p.Gly923Arg) c.2731-1617G>A (n.2731-1617G>A) c.1849G>A (p.Gly617Arg) n.3400G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51944172C>A | CA483894679 | ATP7B | c.*894-1618G>T (n.*894-1618G>T) c.*1924G>T (n.*1924G>T) c.2559G>T (p.Val853=) c.3180G>T (p.Val1060=) c.2847G>T (p.Val949=) c.2928G>T (p.Val976=) c.2946G>T (p.Val982=) n.3319G>T n.3543G>T c.2115G>T (p.Val705=) c.1890G>T (p.Val630=) c.2985G>T (p.Val995=) n.400G>T c.1022-1618G>T c.*281G>T (n.*281G>T) n.3924G>T n.2525G>T c.3036G>T (p.Val1012=) c.3084G>T (p.Val1028=) c.3144G>T (p.Val1048=) c.2694G>T (p.Val898=) c.996G>T (p.Val332=) c.877-1618G>T (n.877-1618G>T) c.3045G>T (p.Val1015=) c.3061-1618G>T (n.3061-1618G>T) c.2766G>T (p.Val922=) c.2731-1618G>T (n.2731-1618G>T) c.1848G>T (p.Val616=) n.3399G>T | |
| 13 | g.51944172C= | CA2091563878 | ATP7B | c.*894-1618G= (n.*894-1618G=) c.*1924G= (n.*1924G=) c.2559G= (p.Val853=) c.3180G= (p.Val1060=) c.2847G= (p.Val949=) c.2928G= (p.Val976=) c.2946G= (p.Val982=) n.3319G= n.3543G= c.2115G= (p.Val705=) c.1890G= (p.Val630=) c.2985G= (p.Val995=) n.400G= c.1022-1618G= c.*281G= (n.*281G=) n.3924G= n.2525G= c.3036G= (p.Val1012=) c.3084G= (p.Val1028=) c.3144G= (p.Val1048=) c.2694G= (p.Val898=) c.996G= (p.Val332=) c.877-1618G= (n.877-1618G=) c.3045G= (p.Val1015=) c.3061-1618G= (n.3061-1618G=) c.2766G= (p.Val922=) c.2731-1618G= (n.2731-1618G=) c.1848G= (p.Val616=) n.3399G= | |
| 13 | g.51944172C>G | CA483894680 | ATP7B | c.*894-1618G>C (n.*894-1618G>C) c.*1924G>C (n.*1924G>C) c.2559G>C (p.Val853=) c.3180G>C (p.Val1060=) c.2847G>C (p.Val949=) c.2928G>C (p.Val976=) c.2946G>C (p.Val982=) n.3319G>C n.3543G>C c.2115G>C (p.Val705=) c.1890G>C (p.Val630=) c.2985G>C (p.Val995=) n.400G>C c.1022-1618G>C c.*281G>C (n.*281G>C) n.3924G>C n.2525G>C c.3036G>C (p.Val1012=) c.3084G>C (p.Val1028=) c.3144G>C (p.Val1048=) c.2694G>C (p.Val898=) c.996G>C (p.Val332=) c.877-1618G>C (n.877-1618G>C) c.3045G>C (p.Val1015=) c.3061-1618G>C (n.3061-1618G>C) c.2766G>C (p.Val922=) c.2731-1618G>C (n.2731-1618G>C) c.1848G>C (p.Val616=) n.3399G>C | |
| 13 | g.51944172C>T | CA6988786 | ATP7B | c.*894-1618G>A (n.*894-1618G>A) c.*1924G>A (n.*1924G>A) c.2559G>A (p.Val853=) c.3180G>A (p.Val1060=) c.2847G>A (p.Val949=) c.2928G>A (p.Val976=) c.2946G>A (p.Val982=) n.3319G>A n.3543G>A c.2115G>A (p.Val705=) c.1890G>A (p.Val630=) c.2985G>A (p.Val995=) n.400G>A c.1022-1618G>A c.*281G>A (n.*281G>A) n.3924G>A n.2525G>A c.3036G>A (p.Val1012=) c.3084G>A (p.Val1028=) c.3144G>A (p.Val1048=) c.2694G>A (p.Val898=) c.996G>A (p.Val332=) c.877-1618G>A (n.877-1618G>A) c.3045G>A (p.Val1015=) c.3061-1618G>A (n.3061-1618G>A) c.2766G>A (p.Val922=) c.2731-1618G>A (n.2731-1618G>A) c.1848G>A (p.Val616=) n.3399G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51944173A= | CA2091563883 | ATP7B | c.*894-1619T= (n.*894-1619T=) c.*1923T= (n.*1923T=) c.2558T= (p.Val853=) c.3179T= (p.Val1060=) c.2846T= (p.Val949=) c.2927T= (p.Val976=) c.2945T= (p.Val982=) n.3318T= n.3542T= c.2114T= (p.Val705=) c.1889T= (p.Val630=) c.2984T= (p.Val995=) n.399T= c.1022-1619T= c.*280T= (n.*280T=) n.3923T= n.2524T= c.3035T= (p.Val1012=) c.3083T= (p.Val1028=) c.3143T= (p.Val1048=) c.2693T= (p.Val898=) c.995T= (p.Val332=) c.877-1619T= (n.877-1619T=) c.3044T= (p.Val1015=) c.3061-1619T= (n.3061-1619T=) c.2765T= (p.Val922=) c.2731-1619T= (n.2731-1619T=) c.1847T= (p.Val616=) n.3398T= | |
| 13 | g.51944173A>C | CA388030017 | ATP7B | c.*894-1619T>G (n.*894-1619T>G) c.*1923T>G (n.*1923T>G) c.2558T>G (p.Val853Gly) c.3179T>G (p.Val1060Gly) c.2846T>G (p.Val949Gly) c.2927T>G (p.Val976Gly) c.2945T>G (p.Val982Gly) n.3318T>G n.3542T>G c.2114T>G (p.Val705Gly) c.1889T>G (p.Val630Gly) c.2984T>G (p.Val995Gly) n.399T>G c.1022-1619T>G c.*280T>G (n.*280T>G) n.3923T>G n.2524T>G c.3035T>G (p.Val1012Gly) c.3083T>G (p.Val1028Gly) c.3143T>G (p.Val1048Gly) c.2693T>G (p.Val898Gly) c.995T>G (p.Val332Gly) c.877-1619T>G (n.877-1619T>G) c.3044T>G (p.Val1015Gly) c.3061-1619T>G (n.3061-1619T>G) c.2765T>G (p.Val922Gly) c.2731-1619T>G (n.2731-1619T>G) c.1847T>G (p.Val616Gly) n.3398T>G | dbSNP |
| 13 | g.51944173A>G | CA6988787 | ATP7B | c.*894-1619T>C (n.*894-1619T>C) c.*1923T>C (n.*1923T>C) c.2558T>C (p.Val853Ala) c.3179T>C (p.Val1060Ala) c.2846T>C (p.Val949Ala) c.2927T>C (p.Val976Ala) c.2945T>C (p.Val982Ala) n.3318T>C n.3542T>C c.2114T>C (p.Val705Ala) c.1889T>C (p.Val630Ala) c.2984T>C (p.Val995Ala) n.399T>C c.1022-1619T>C c.*280T>C (n.*280T>C) n.3923T>C n.2524T>C c.3035T>C (p.Val1012Ala) c.3083T>C (p.Val1028Ala) c.3143T>C (p.Val1048Ala) c.2693T>C (p.Val898Ala) c.995T>C (p.Val332Ala) c.877-1619T>C (n.877-1619T>C) c.3044T>C (p.Val1015Ala) c.3061-1619T>C (n.3061-1619T>C) c.2765T>C (p.Val922Ala) c.2731-1619T>C (n.2731-1619T>C) c.1847T>C (p.Val616Ala) n.3398T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |