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.51949709_51949721del | CA2623118045 | ATP7B | c.*642_*654del (n.*642_*654del) c.*1553_*1565del (n.*1553_*1565del) c.2244+289_2244+301del (n.2244+289_2244+301del) c.2809_2821del (p.Val937Ter) c.2476_2488del (p.Val826Ter) c.2557_2569del (p.Val853Ter) c.2575_2587del (p.Val859Ter) c.1800+289_1800+301del (n.1800+289_1800+301del) c.1519_1531del (p.Val507Ter) c.770_782del n.3607_3609+10del n.2154_2166del c.2665_2677del (p.Val889Ter) n.212-3240_212-3228del c.2713_2725del (p.Val905Ter) c.2773_2785del (p.Val925Ter) c.2323_2335del (p.Val775Ter) c.625_637del (p.Val209Ter) c.2730+289_2730+301del (n.2730+289_2730+301del) c.2395_2407del (p.Val799Ter) c.1477_1489del (p.Val493Ter) n.3028_3040del | gnomAD v4 |
| 13 | g.51949716C>A | CA484024492 | ATP7B | c.*644G>T (n.*644G>T) c.*1555G>T (n.*1555G>T) c.2244+291G>T (n.2244+291G>T) c.2811G>T (p.Val937=) c.2478G>T (p.Val826=) c.2559G>T (p.Val853=) c.2577G>T (p.Val859=) c.1800+291G>T (n.1800+291G>T) c.1521G>T (p.Val507=) c.772G>T n.3609G>T n.2156G>T c.2667G>T (p.Val889=) n.212-3238G>T c.2715G>T (p.Val905=) c.2775G>T (p.Val925=) c.2325G>T (p.Val775=) c.627G>T (p.Val209=) c.2730+291G>T (n.2730+291G>T) c.2397G>T (p.Val799=) c.1479G>T (p.Val493=) n.3030G>T | gnomAD v4 |
| 13 | g.51949716C= | CA2091541377 | ATP7B | c.*644G= (n.*644G=) c.*1555G= (n.*1555G=) c.2244+291G= (n.2244+291G=) c.2811G= (p.Val937=) c.2478G= (p.Val826=) c.2559G= (p.Val853=) c.2577G= (p.Val859=) c.1800+291G= (n.1800+291G=) c.1521G= (p.Val507=) c.772G= n.3609G= n.2156G= c.2667G= (p.Val889=) n.212-3238G= c.2715G= (p.Val905=) c.2775G= (p.Val925=) c.2325G= (p.Val775=) c.627G= (p.Val209=) c.2730+291G= (n.2730+291G=) c.2397G= (p.Val799=) c.1479G= (p.Val493=) n.3030G= | |
| 13 | g.51949716C>G | CA484024493 | ATP7B | c.*644G>C (n.*644G>C) c.*1555G>C (n.*1555G>C) c.2244+291G>C (n.2244+291G>C) c.2811G>C (p.Val937=) c.2478G>C (p.Val826=) c.2559G>C (p.Val853=) c.2577G>C (p.Val859=) c.1800+291G>C (n.1800+291G>C) c.1521G>C (p.Val507=) c.772G>C n.3609G>C n.2156G>C c.2667G>C (p.Val889=) n.212-3238G>C c.2715G>C (p.Val905=) c.2775G>C (p.Val925=) c.2325G>C (p.Val775=) c.627G>C (p.Val209=) c.2730+291G>C (n.2730+291G>C) c.2397G>C (p.Val799=) c.1479G>C (p.Val493=) n.3030G>C | gnomAD v4 |
| 13 | g.51949716C>T | CA6988904 | ATP7B | c.*644G>A (n.*644G>A) c.*1555G>A (n.*1555G>A) c.2244+291G>A (n.2244+291G>A) c.2811G>A (p.Val937=) c.2478G>A (p.Val826=) c.2559G>A (p.Val853=) c.2577G>A (p.Val859=) c.1800+291G>A (n.1800+291G>A) c.1521G>A (p.Val507=) c.772G>A n.3609G>A n.2156G>A c.2667G>A (p.Val889=) n.212-3238G>A c.2715G>A (p.Val905=) c.2775G>A (p.Val925=) c.2325G>A (p.Val775=) c.627G>A (p.Val209=) c.2730+291G>A (n.2730+291G>A) c.2397G>A (p.Val799=) c.1479G>A (p.Val493=) n.3030G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51949716_51949717delinsCA | CA2091541378 | ATP7B | c.*643_*644delinsTG (n.*643_*644delinsTG) c.*1554_*1555delinsTG (n.*1554_*1555delinsTG) c.2244+290_2244+291delinsTG (n.2244+290_2244+291delinsTG) c.2810_2811delinsTG (p.Val937=) c.2477_2478delinsTG (p.Val826=) c.2558_2559delinsTG (p.Val853=) c.2576_2577delinsTG (p.Val859=) c.1800+290_1800+291delinsTG (n.1800+290_1800+291delinsTG) c.1520_1521delinsTG (p.Val507=) c.771_772delinsTG n.3608_3609delinsTG n.2155_2156delinsTG c.2666_2667delinsTG (p.Val889=) n.212-3239_212-3238delinsTG c.2714_2715delinsTG (p.Val905=) c.2774_2775delinsTG (p.Val925=) c.2324_2325delinsTG (p.Val775=) c.626_627delinsTG (p.Val209=) c.2730+290_2730+291delinsTG (n.2730+290_2730+291delinsTG) c.2396_2397delinsTG (p.Val799=) c.1478_1479delinsTG (p.Val493=) n.3029_3030delinsTG | |
| 13 | g.51949717del | CA16041668 | ATP7B | c.*643del (n.*643del) c.*1554del (n.*1554del) c.2244+290del (n.2244+290del) c.2810del (p.Val937GlyfsTer5) c.2477del (p.Val826GlyfsTer5) c.2558del (p.Val853GlyfsTer5) c.2576del (p.Val859GlyfsTer5) c.1800+290del (n.1800+290del) c.1520del (p.Val507GlyfsTer5) c.771del n.3608del n.2155del c.2666del (p.Val889GlyfsTer5) n.212-3239del c.2714del (p.Val905GlyfsTer5) c.2774del (p.Val925GlyfsTer5) c.2324del (p.Val775GlyfsTer5) c.626del (p.Val209GlyfsTer5) c.2730+290del (n.2730+290del) c.2396del (p.Val799GlyfsTer5) c.1478del (p.Val493GlyfsTer5) n.3029del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51949717A>C | CA388033554 | ATP7B | c.*643T>G (n.*643T>G) c.*1554T>G (n.*1554T>G) c.2244+290T>G (n.2244+290T>G) c.2810T>G (p.Val937Gly) c.2477T>G (p.Val826Gly) c.2558T>G (p.Val853Gly) c.2576T>G (p.Val859Gly) c.1800+290T>G (n.1800+290T>G) c.1520T>G (p.Val507Gly) c.771T>G n.3608T>G n.2155T>G c.2666T>G (p.Val889Gly) n.212-3239T>G c.2714T>G (p.Val905Gly) c.2774T>G (p.Val925Gly) c.2324T>G (p.Val775Gly) c.626T>G (p.Val209Gly) c.2730+290T>G (n.2730+290T>G) c.2396T>G (p.Val799Gly) c.1478T>G (p.Val493Gly) n.3029T>G | |
| 13 | g.51949717A>G | CA388033547 | ATP7B | c.*643T>C (n.*643T>C) c.*1554T>C (n.*1554T>C) c.2244+290T>C (n.2244+290T>C) c.2810T>C (p.Val937Ala) c.2477T>C (p.Val826Ala) c.2558T>C (p.Val853Ala) c.2576T>C (p.Val859Ala) c.1800+290T>C (n.1800+290T>C) c.1520T>C (p.Val507Ala) c.771T>C n.3608T>C n.2155T>C c.2666T>C (p.Val889Ala) n.212-3239T>C c.2714T>C (p.Val905Ala) c.2774T>C (p.Val925Ala) c.2324T>C (p.Val775Ala) c.626T>C (p.Val209Ala) c.2730+290T>C (n.2730+290T>C) c.2396T>C (p.Val799Ala) c.1478T>C (p.Val493Ala) n.3029T>C | |
| 13 | g.51949717A>T | CA388033550 | ATP7B | c.*643T>A (n.*643T>A) c.*1554T>A (n.*1554T>A) c.2244+290T>A (n.2244+290T>A) c.2810T>A (p.Val937Glu) c.2477T>A (p.Val826Glu) c.2558T>A (p.Val853Glu) c.2576T>A (p.Val859Glu) c.1800+290T>A (n.1800+290T>A) c.1520T>A (p.Val507Glu) c.771T>A n.3608T>A n.2155T>A c.2666T>A (p.Val889Glu) n.212-3239T>A c.2714T>A (p.Val905Glu) c.2774T>A (p.Val925Glu) c.2324T>A (p.Val775Glu) c.626T>A (p.Val209Glu) c.2730+290T>A (n.2730+290T>A) c.2396T>A (p.Val799Glu) c.1478T>A (p.Val493Glu) n.3029T>A | |
| 13 | g.51949718C>A | CA388033557 | ATP7B | c.*642G>T (n.*642G>T) c.*1553G>T (n.*1553G>T) c.2244+289G>T (n.2244+289G>T) c.2809G>T (p.Val937Leu) c.2476G>T (p.Val826Leu) c.2557G>T (p.Val853Leu) c.2575G>T (p.Val859Leu) c.1800+289G>T (n.1800+289G>T) c.1519G>T (p.Val507Leu) c.770G>T n.3607G>T n.2154G>T c.2665G>T (p.Val889Leu) n.212-3240G>T c.2713G>T (p.Val905Leu) c.2773G>T (p.Val925Leu) c.2323G>T (p.Val775Leu) c.625G>T (p.Val209Leu) c.2730+289G>T (n.2730+289G>T) c.2395G>T (p.Val799Leu) c.1477G>T (p.Val493Leu) n.3028G>T | |
| 13 | g.51949718C>G | CA388033559 | ATP7B | c.*642G>C (n.*642G>C) c.*1553G>C (n.*1553G>C) c.2244+289G>C (n.2244+289G>C) c.2809G>C (p.Val937Leu) c.2476G>C (p.Val826Leu) c.2557G>C (p.Val853Leu) c.2575G>C (p.Val859Leu) c.1800+289G>C (n.1800+289G>C) c.1519G>C (p.Val507Leu) c.770G>C n.3607G>C n.2154G>C c.2665G>C (p.Val889Leu) n.212-3240G>C c.2713G>C (p.Val905Leu) c.2773G>C (p.Val925Leu) c.2323G>C (p.Val775Leu) c.625G>C (p.Val209Leu) c.2730+289G>C (n.2730+289G>C) c.2395G>C (p.Val799Leu) c.1477G>C (p.Val493Leu) n.3028G>C | |
| 13 | g.51949718C>T | CA388033562 | ATP7B | c.*642G>A (n.*642G>A) c.*1553G>A (n.*1553G>A) c.2244+289G>A (n.2244+289G>A) c.2809G>A (p.Val937Met) c.2476G>A (p.Val826Met) c.2557G>A (p.Val853Met) c.2575G>A (p.Val859Met) c.1800+289G>A (n.1800+289G>A) c.1519G>A (p.Val507Met) c.770G>A n.3607G>A n.2154G>A c.2665G>A (p.Val889Met) n.212-3240G>A c.2713G>A (p.Val905Met) c.2773G>A (p.Val925Met) c.2323G>A (p.Val775Met) c.625G>A (p.Val209Met) c.2730+289G>A (n.2730+289G>A) c.2395G>A (p.Val799Met) c.1477G>A (p.Val493Met) n.3028G>A | |
| 13 | g.51949719C>A | CA388033569 | ATP7B | c.*641G>T (n.*641G>T) c.*1552G>T (n.*1552G>T) c.2244+288G>T (n.2244+288G>T) c.2808G>T (p.Leu936Phe) c.2475G>T (p.Leu825Phe) c.2556G>T (p.Leu852Phe) c.2574G>T (p.Leu858Phe) c.1800+288G>T (n.1800+288G>T) c.1518G>T (p.Leu506Phe) c.769G>T n.3606G>T n.2153G>T c.2664G>T (p.Leu888Phe) n.212-3241G>T c.2712G>T (p.Leu904Phe) c.2772G>T (p.Leu924Phe) c.2322G>T (p.Leu774Phe) c.624G>T (p.Leu208Phe) c.2730+288G>T (n.2730+288G>T) c.2394G>T (p.Leu798Phe) c.1476G>T (p.Leu492Phe) n.3027G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51949719C= | CA2091541386 | ATP7B | c.*641G= (n.*641G=) c.*1552G= (n.*1552G=) c.2244+288G= (n.2244+288G=) c.2808G= (p.Leu936=) c.2475G= (p.Leu825=) c.2556G= (p.Leu852=) c.2574G= (p.Leu858=) c.1800+288G= (n.1800+288G=) c.1518G= (p.Leu506=) c.769G= n.3606G= n.2153G= c.2664G= (p.Leu888=) n.212-3241G= c.2712G= (p.Leu904=) c.2772G= (p.Leu924=) c.2322G= (p.Leu774=) c.624G= (p.Leu208=) c.2730+288G= (n.2730+288G=) c.2394G= (p.Leu798=) c.1476G= (p.Leu492=) n.3027G= | |
| 13 | g.51949719C>G | CA388033566 | ATP7B | c.*641G>C (n.*641G>C) c.*1552G>C (n.*1552G>C) c.2244+288G>C (n.2244+288G>C) c.2808G>C (p.Leu936Phe) c.2475G>C (p.Leu825Phe) c.2556G>C (p.Leu852Phe) c.2574G>C (p.Leu858Phe) c.1800+288G>C (n.1800+288G>C) c.1518G>C (p.Leu506Phe) c.769G>C n.3606G>C n.2153G>C c.2664G>C (p.Leu888Phe) n.212-3241G>C c.2712G>C (p.Leu904Phe) c.2772G>C (p.Leu924Phe) c.2322G>C (p.Leu774Phe) c.624G>C (p.Leu208Phe) c.2730+288G>C (n.2730+288G>C) c.2394G>C (p.Leu798Phe) c.1476G>C (p.Leu492Phe) n.3027G>C | |
| 13 | g.51949719C>T | CA484024494 | ATP7B | c.*641G>A (n.*641G>A) c.*1552G>A (n.*1552G>A) c.2244+288G>A (n.2244+288G>A) c.2808G>A (p.Leu936=) c.2475G>A (p.Leu825=) c.2556G>A (p.Leu852=) c.2574G>A (p.Leu858=) c.1800+288G>A (n.1800+288G>A) c.1518G>A (p.Leu506=) c.769G>A n.3606G>A n.2153G>A c.2664G>A (p.Leu888=) n.212-3241G>A c.2712G>A (p.Leu904=) c.2772G>A (p.Leu924=) c.2322G>A (p.Leu774=) c.624G>A (p.Leu208=) c.2730+288G>A (n.2730+288G>A) c.2394G>A (p.Leu798=) c.1476G>A (p.Leu492=) n.3027G>A | gnomAD v4 |
| 13 | g.51949720_51949722del | CA2623118046 | ATP7B | c.*639_*641del (n.*639_*641del) c.*1550_*1552del (n.*1550_*1552del) c.2244+286_2244+288del (n.2244+286_2244+288del) c.2806_2808del (p.Leu936del) c.2473_2475del (p.Leu825del) c.2554_2556del (p.Leu852del) c.2572_2574del (p.Leu858del) c.1800+286_1800+288del (n.1800+286_1800+288del) c.1516_1518del (p.Leu506del) c.767_769del n.3604_3606del n.2151_2153del c.2662_2664del (p.Leu888del) n.212-3243_212-3241del c.2710_2712del (p.Leu904del) c.2770_2772del (p.Leu924del) c.2320_2322del (p.Leu774del) c.622_624del (p.Leu208del) c.2730+286_2730+288del (n.2730+286_2730+288del) c.2392_2394del (p.Leu798del) c.1474_1476del (p.Leu492del) n.3025_3027del | gnomAD v4 |
| 13 | g.51949720A= | CA2091541390 | ATP7B | c.*640T= (n.*640T=) c.*1551T= (n.*1551T=) c.2244+287T= (n.2244+287T=) c.2807T= (p.Leu936=) c.2474T= (p.Leu825=) c.2555T= (p.Leu852=) c.2573T= (p.Leu858=) c.1800+287T= (n.1800+287T=) c.1517T= (p.Leu506=) c.768T= n.3605T= n.2152T= c.2663T= (p.Leu888=) n.212-3242T= c.2711T= (p.Leu904=) c.2771T= (p.Leu924=) c.2321T= (p.Leu774=) c.623T= (p.Leu208=) c.2730+287T= (n.2730+287T=) c.2393T= (p.Leu798=) c.1475T= (p.Leu492=) n.3026T= | |
| 13 | g.51949720A>C | CA388033572 | ATP7B | c.*640T>G (n.*640T>G) c.*1551T>G (n.*1551T>G) c.2244+287T>G (n.2244+287T>G) c.2807T>G (p.Leu936Trp) c.2474T>G (p.Leu825Trp) c.2555T>G (p.Leu852Trp) c.2573T>G (p.Leu858Trp) c.1800+287T>G (n.1800+287T>G) c.1517T>G (p.Leu506Trp) c.768T>G n.3605T>G n.2152T>G c.2663T>G (p.Leu888Trp) n.212-3242T>G c.2711T>G (p.Leu904Trp) c.2771T>G (p.Leu924Trp) c.2321T>G (p.Leu774Trp) c.623T>G (p.Leu208Trp) c.2730+287T>G (n.2730+287T>G) c.2393T>G (p.Leu798Trp) c.1475T>G (p.Leu492Trp) n.3026T>G | |
| 13 | g.51949720A>G | CA388033575 | ATP7B | c.*640T>C (n.*640T>C) c.*1551T>C (n.*1551T>C) c.2244+287T>C (n.2244+287T>C) c.2807T>C (p.Leu936Ser) c.2474T>C (p.Leu825Ser) c.2555T>C (p.Leu852Ser) c.2573T>C (p.Leu858Ser) c.1800+287T>C (n.1800+287T>C) c.1517T>C (p.Leu506Ser) c.768T>C n.3605T>C n.2152T>C c.2663T>C (p.Leu888Ser) n.212-3242T>C c.2711T>C (p.Leu904Ser) c.2771T>C (p.Leu924Ser) c.2321T>C (p.Leu774Ser) c.623T>C (p.Leu208Ser) c.2730+287T>C (n.2730+287T>C) c.2393T>C (p.Leu798Ser) c.1475T>C (p.Leu492Ser) n.3026T>C | gnomAD v4 |
| 13 | g.51949720A>T | CA6988905 | ATP7B | c.*640T>A (n.*640T>A) c.*1551T>A (n.*1551T>A) c.2244+287T>A (n.2244+287T>A) c.2807T>A (p.Leu936Ter) c.2474T>A (p.Leu825Ter) c.2555T>A (p.Leu852Ter) c.2573T>A (p.Leu858Ter) c.1800+287T>A (n.1800+287T>A) c.1517T>A (p.Leu506Ter) c.768T>A n.3605T>A n.2152T>A c.2663T>A (p.Leu888Ter) n.212-3242T>A c.2711T>A (p.Leu904Ter) c.2771T>A (p.Leu924Ter) c.2321T>A (p.Leu774Ter) c.623T>A (p.Leu208Ter) c.2730+287T>A (n.2730+287T>A) c.2393T>A (p.Leu798Ter) c.1475T>A (p.Leu492Ter) n.3026T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51949721A= | CA2091541393 | ATP7B | c.*639T= (n.*639T=) c.*1550T= (n.*1550T=) c.2244+286T= (n.2244+286T=) c.2806T= (p.Leu936=) c.2473T= (p.Leu825=) c.2554T= (p.Leu852=) c.2572T= (p.Leu858=) c.1800+286T= (n.1800+286T=) c.1516T= (p.Leu506=) c.767T= n.3604T= n.2151T= c.2662T= (p.Leu888=) n.212-3243T= c.2710T= (p.Leu904=) c.2770T= (p.Leu924=) c.2320T= (p.Leu774=) c.622T= (p.Leu208=) c.2730+286T= (n.2730+286T=) c.2392T= (p.Leu798=) c.1474T= (p.Leu492=) n.3025T= | |
| 13 | g.51949721A>C | CA6988906 | ATP7B | c.*639T>G (n.*639T>G) c.*1550T>G (n.*1550T>G) c.2244+286T>G (n.2244+286T>G) c.2806T>G (p.Leu936Val) c.2473T>G (p.Leu825Val) c.2554T>G (p.Leu852Val) c.2572T>G (p.Leu858Val) c.1800+286T>G (n.1800+286T>G) c.1516T>G (p.Leu506Val) c.767T>G n.3604T>G n.2151T>G c.2662T>G (p.Leu888Val) n.212-3243T>G c.2710T>G (p.Leu904Val) c.2770T>G (p.Leu924Val) c.2320T>G (p.Leu774Val) c.622T>G (p.Leu208Val) c.2730+286T>G (n.2730+286T>G) c.2392T>G (p.Leu798Val) c.1474T>G (p.Leu492Val) n.3025T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51949721A>G | CA484024495 | ATP7B | c.*639T>C (n.*639T>C) c.*1550T>C (n.*1550T>C) c.2244+286T>C (n.2244+286T>C) c.2806T>C (p.Leu936=) c.2473T>C (p.Leu825=) c.2554T>C (p.Leu852=) c.2572T>C (p.Leu858=) c.1800+286T>C (n.1800+286T>C) c.1516T>C (p.Leu506=) c.767T>C n.3604T>C n.2151T>C c.2662T>C (p.Leu888=) n.212-3243T>C c.2710T>C (p.Leu904=) c.2770T>C (p.Leu924=) c.2320T>C (p.Leu774=) c.622T>C (p.Leu208=) c.2730+286T>C (n.2730+286T>C) c.2392T>C (p.Leu798=) c.1474T>C (p.Leu492=) n.3025T>C | |
| 13 | g.51949721A>T | CA388033579 | ATP7B | c.*639T>A (n.*639T>A) c.*1550T>A (n.*1550T>A) c.2244+286T>A (n.2244+286T>A) c.2806T>A (p.Leu936Met) c.2473T>A (p.Leu825Met) c.2554T>A (p.Leu852Met) c.2572T>A (p.Leu858Met) c.1800+286T>A (n.1800+286T>A) c.1516T>A (p.Leu506Met) c.767T>A n.3604T>A n.2151T>A c.2662T>A (p.Leu888Met) n.212-3243T>A c.2710T>A (p.Leu904Met) c.2770T>A (p.Leu924Met) c.2320T>A (p.Leu774Met) c.622T>A (p.Leu208Met) c.2730+286T>A (n.2730+286T>A) c.2392T>A (p.Leu798Met) c.1474T>A (p.Leu492Met) n.3025T>A | |
| 13 | g.51949722C>A | CA484024496 | ATP7B | c.*638G>T (n.*638G>T) c.*1549G>T (n.*1549G>T) c.2244+285G>T (n.2244+285G>T) c.2805G>T (p.Thr935=) c.2472G>T (p.Thr824=) c.2553G>T (p.Thr851=) c.2571G>T (p.Thr857=) c.1800+285G>T (n.1800+285G>T) c.1515G>T (p.Thr505=) c.766G>T n.3603G>T n.2150G>T c.2661G>T (p.Thr887=) n.212-3244G>T c.2709G>T (p.Thr903=) c.2769G>T (p.Thr923=) c.2319G>T (p.Thr773=) c.621G>T (p.Thr207=) c.2730+285G>T (n.2730+285G>T) c.2391G>T (p.Thr797=) c.1473G>T (p.Thr491=) n.3024G>T | |
| 13 | g.51949722C= | CA2091541402 | ATP7B | c.*638G= (n.*638G=) c.*1549G= (n.*1549G=) c.2244+285G= (n.2244+285G=) c.2805G= (p.Thr935=) c.2472G= (p.Thr824=) c.2553G= (p.Thr851=) c.2571G= (p.Thr857=) c.1800+285G= (n.1800+285G=) c.1515G= (p.Thr505=) c.766G= n.3603G= n.2150G= c.2661G= (p.Thr887=) n.212-3244G= c.2709G= (p.Thr903=) c.2769G= (p.Thr923=) c.2319G= (p.Thr773=) c.621G= (p.Thr207=) c.2730+285G= (n.2730+285G=) c.2391G= (p.Thr797=) c.1473G= (p.Thr491=) n.3024G= | |
| 13 | g.51949722C>G | CA484024497 | ATP7B | c.*638G>C (n.*638G>C) c.*1549G>C (n.*1549G>C) c.2244+285G>C (n.2244+285G>C) c.2805G>C (p.Thr935=) c.2472G>C (p.Thr824=) c.2553G>C (p.Thr851=) c.2571G>C (p.Thr857=) c.1800+285G>C (n.1800+285G>C) c.1515G>C (p.Thr505=) c.766G>C n.3603G>C n.2150G>C c.2661G>C (p.Thr887=) n.212-3244G>C c.2709G>C (p.Thr903=) c.2769G>C (p.Thr923=) c.2319G>C (p.Thr773=) c.621G>C (p.Thr207=) c.2730+285G>C (n.2730+285G>C) c.2391G>C (p.Thr797=) c.1473G>C (p.Thr491=) n.3024G>C | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.51949722C>T | CA6988907 | ATP7B | c.*638G>A (n.*638G>A) c.*1549G>A (n.*1549G>A) c.2244+285G>A (n.2244+285G>A) c.2805G>A (p.Thr935=) c.2472G>A (p.Thr824=) c.2553G>A (p.Thr851=) c.2571G>A (p.Thr857=) c.1800+285G>A (n.1800+285G>A) c.1515G>A (p.Thr505=) c.766G>A n.3603G>A n.2150G>A c.2661G>A (p.Thr887=) n.212-3244G>A c.2709G>A (p.Thr903=) c.2769G>A (p.Thr923=) c.2319G>A (p.Thr773=) c.621G>A (p.Thr207=) c.2730+285G>A (n.2730+285G>A) c.2391G>A (p.Thr797=) c.1473G>A (p.Thr491=) n.3024G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.51949723G>A | CA273878 | ATP7B | c.*637C>T (n.*637C>T) c.*1548C>T (n.*1548C>T) c.2244+284C>T (n.2244+284C>T) c.2804C>T (p.Thr935Met) c.2471C>T (p.Thr824Met) c.2552C>T (p.Thr851Met) c.2570C>T (p.Thr857Met) c.1800+284C>T (n.1800+284C>T) c.1514C>T (p.Thr505Met) c.765C>T n.3602C>T n.2149C>T c.2660C>T (p.Thr887Met) n.212-3245C>T c.2708C>T (p.Thr903Met) c.2768C>T (p.Thr923Met) c.2318C>T (p.Thr773Met) c.620C>T (p.Thr207Met) c.2730+284C>T (n.2730+284C>T) c.2390C>T (p.Thr797Met) c.1472C>T (p.Thr491Met) n.3023C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51949723G>C | CA388033585 | ATP7B | c.*637C>G (n.*637C>G) c.*1548C>G (n.*1548C>G) c.2244+284C>G (n.2244+284C>G) c.2804C>G (p.Thr935Arg) c.2471C>G (p.Thr824Arg) c.2552C>G (p.Thr851Arg) c.2570C>G (p.Thr857Arg) c.1800+284C>G (n.1800+284C>G) c.1514C>G (p.Thr505Arg) c.765C>G n.3602C>G n.2149C>G c.2660C>G (p.Thr887Arg) n.212-3245C>G c.2708C>G (p.Thr903Arg) c.2768C>G (p.Thr923Arg) c.2318C>G (p.Thr773Arg) c.620C>G (p.Thr207Arg) c.2730+284C>G (n.2730+284C>G) c.2390C>G (p.Thr797Arg) c.1472C>G (p.Thr491Arg) n.3023C>G | |
| 13 | g.51949723G= | CA2091541406 | ATP7B | c.*637C= (n.*637C=) c.*1548C= (n.*1548C=) c.2244+284C= (n.2244+284C=) c.2804C= (p.Thr935=) c.2471C= (p.Thr824=) c.2552C= (p.Thr851=) c.2570C= (p.Thr857=) c.1800+284C= (n.1800+284C=) c.1514C= (p.Thr505=) c.765C= n.3602C= n.2149C= c.2660C= (p.Thr887=) n.212-3245C= c.2708C= (p.Thr903=) c.2768C= (p.Thr923=) c.2318C= (p.Thr773=) c.620C= (p.Thr207=) c.2730+284C= (n.2730+284C=) c.2390C= (p.Thr797=) c.1472C= (p.Thr491=) n.3023C= | |
| 13 | g.51949723G>T | CA388033584 | ATP7B | c.*637C>A (n.*637C>A) c.*1548C>A (n.*1548C>A) c.2244+284C>A (n.2244+284C>A) c.2804C>A (p.Thr935Lys) c.2471C>A (p.Thr824Lys) c.2552C>A (p.Thr851Lys) c.2570C>A (p.Thr857Lys) c.1800+284C>A (n.1800+284C>A) c.1514C>A (p.Thr505Lys) c.765C>A n.3602C>A n.2149C>A c.2660C>A (p.Thr887Lys) n.212-3245C>A c.2708C>A (p.Thr903Lys) c.2768C>A (p.Thr923Lys) c.2318C>A (p.Thr773Lys) c.620C>A (p.Thr207Lys) c.2730+284C>A (n.2730+284C>A) c.2390C>A (p.Thr797Lys) c.1472C>A (p.Thr491Lys) n.3023C>A | |
| 13 | g.51949724T>A | CA388033588 | ATP7B | c.*636A>T (n.*636A>T) c.*1547A>T (n.*1547A>T) c.2244+283A>T (n.2244+283A>T) c.2803A>T (p.Thr935Ser) c.2470A>T (p.Thr824Ser) c.2551A>T (p.Thr851Ser) c.2569A>T (p.Thr857Ser) c.1800+283A>T (n.1800+283A>T) c.1513A>T (p.Thr505Ser) c.764A>T n.3601A>T n.2148A>T c.2659A>T (p.Thr887Ser) n.212-3246A>T c.2707A>T (p.Thr903Ser) c.2767A>T (p.Thr923Ser) c.2317A>T (p.Thr773Ser) c.619A>T (p.Thr207Ser) c.2730+283A>T (n.2730+283A>T) c.2389A>T (p.Thr797Ser) c.1471A>T (p.Thr491Ser) n.3022A>T | |
| 13 | g.51949724T>C | CA388033591 | ATP7B | c.*636A>G (n.*636A>G) c.*1547A>G (n.*1547A>G) c.2244+283A>G (n.2244+283A>G) c.2803A>G (p.Thr935Ala) c.2470A>G (p.Thr824Ala) c.2551A>G (p.Thr851Ala) c.2569A>G (p.Thr857Ala) c.1800+283A>G (n.1800+283A>G) c.1513A>G (p.Thr505Ala) c.764A>G n.3601A>G n.2148A>G c.2659A>G (p.Thr887Ala) n.212-3246A>G c.2707A>G (p.Thr903Ala) c.2767A>G (p.Thr923Ala) c.2317A>G (p.Thr773Ala) c.619A>G (p.Thr207Ala) c.2730+283A>G (n.2730+283A>G) c.2389A>G (p.Thr797Ala) c.1471A>G (p.Thr491Ala) n.3022A>G | |
| 13 | g.51949724T>G | CA388033594 | ATP7B | c.*636A>C (n.*636A>C) c.*1547A>C (n.*1547A>C) c.2244+283A>C (n.2244+283A>C) c.2803A>C (p.Thr935Pro) c.2470A>C (p.Thr824Pro) c.2551A>C (p.Thr851Pro) c.2569A>C (p.Thr857Pro) c.1800+283A>C (n.1800+283A>C) c.1513A>C (p.Thr505Pro) c.764A>C n.3601A>C n.2148A>C c.2659A>C (p.Thr887Pro) n.212-3246A>C c.2707A>C (p.Thr903Pro) c.2767A>C (p.Thr923Pro) c.2317A>C (p.Thr773Pro) c.619A>C (p.Thr207Pro) c.2730+283A>C (n.2730+283A>C) c.2389A>C (p.Thr797Pro) c.1471A>C (p.Thr491Pro) n.3022A>C | |
| 13 | g.51949725C>A | CA388033597 | ATP7B | c.*635G>T (n.*635G>T) c.*1546G>T (n.*1546G>T) c.2244+282G>T (n.2244+282G>T) c.2802G>T (p.Leu934Phe) c.2469G>T (p.Leu823Phe) c.2550G>T (p.Leu850Phe) c.2568G>T (p.Leu856Phe) c.1800+282G>T (n.1800+282G>T) c.1512G>T (p.Leu504Phe) c.763G>T n.3600G>T n.2147G>T c.2658G>T (p.Leu886Phe) n.212-3247G>T c.2706G>T (p.Leu902Phe) c.2766G>T (p.Leu922Phe) c.2316G>T (p.Leu772Phe) c.618G>T (p.Leu206Phe) c.2730+282G>T (n.2730+282G>T) c.2388G>T (p.Leu796Phe) c.1470G>T (p.Leu490Phe) n.3021G>T | |
| 13 | g.51949725C>G | CA388033599 | ATP7B | c.*635G>C (n.*635G>C) c.*1546G>C (n.*1546G>C) c.2244+282G>C (n.2244+282G>C) c.2802G>C (p.Leu934Phe) c.2469G>C (p.Leu823Phe) c.2550G>C (p.Leu850Phe) c.2568G>C (p.Leu856Phe) c.1800+282G>C (n.1800+282G>C) c.1512G>C (p.Leu504Phe) c.763G>C n.3600G>C n.2147G>C c.2658G>C (p.Leu886Phe) n.212-3247G>C c.2706G>C (p.Leu902Phe) c.2766G>C (p.Leu922Phe) c.2316G>C (p.Leu772Phe) c.618G>C (p.Leu206Phe) c.2730+282G>C (n.2730+282G>C) c.2388G>C (p.Leu796Phe) c.1470G>C (p.Leu490Phe) n.3021G>C | |
| 13 | g.51949725C>T | CA484024498 | ATP7B | c.*635G>A (n.*635G>A) c.*1546G>A (n.*1546G>A) c.2244+282G>A (n.2244+282G>A) c.2802G>A (p.Leu934=) c.2469G>A (p.Leu823=) c.2550G>A (p.Leu850=) c.2568G>A (p.Leu856=) c.1800+282G>A (n.1800+282G>A) c.1512G>A (p.Leu504=) c.763G>A n.3600G>A n.2147G>A c.2658G>A (p.Leu886=) n.212-3247G>A c.2706G>A (p.Leu902=) c.2766G>A (p.Leu922=) c.2316G>A (p.Leu772=) c.618G>A (p.Leu206=) c.2730+282G>A (n.2730+282G>A) c.2388G>A (p.Leu796=) c.1470G>A (p.Leu490=) n.3021G>A | |
| 13 | g.51949726A>C | CA388033601 | ATP7B | c.*634T>G (n.*634T>G) c.*1545T>G (n.*1545T>G) c.2244+281T>G (n.2244+281T>G) c.2801T>G (p.Leu934Trp) c.2468T>G (p.Leu823Trp) c.2549T>G (p.Leu850Trp) c.2567T>G (p.Leu856Trp) c.1800+281T>G (n.1800+281T>G) c.1511T>G (p.Leu504Trp) c.762T>G n.3599T>G n.2146T>G c.2657T>G (p.Leu886Trp) n.212-3248T>G c.2705T>G (p.Leu902Trp) c.2765T>G (p.Leu922Trp) c.2315T>G (p.Leu772Trp) c.617T>G (p.Leu206Trp) c.2730+281T>G (n.2730+281T>G) c.2387T>G (p.Leu796Trp) c.1469T>G (p.Leu490Trp) n.3020T>G | gnomAD v4 |
| 13 | g.51949726A>G | CA388033604 | ATP7B | c.*634T>C (n.*634T>C) c.*1545T>C (n.*1545T>C) c.2244+281T>C (n.2244+281T>C) c.2801T>C (p.Leu934Ser) c.2468T>C (p.Leu823Ser) c.2549T>C (p.Leu850Ser) c.2567T>C (p.Leu856Ser) c.1800+281T>C (n.1800+281T>C) c.1511T>C (p.Leu504Ser) c.762T>C n.3599T>C n.2146T>C c.2657T>C (p.Leu886Ser) n.212-3248T>C c.2705T>C (p.Leu902Ser) c.2765T>C (p.Leu922Ser) c.2315T>C (p.Leu772Ser) c.617T>C (p.Leu206Ser) c.2730+281T>C (n.2730+281T>C) c.2387T>C (p.Leu796Ser) c.1469T>C (p.Leu490Ser) n.3020T>C | |
| 13 | g.51949726A>T | CA388033606 | ATP7B | c.*634T>A (n.*634T>A) c.*1545T>A (n.*1545T>A) c.2244+281T>A (n.2244+281T>A) c.2801T>A (p.Leu934Ter) c.2468T>A (p.Leu823Ter) c.2549T>A (p.Leu850Ter) c.2567T>A (p.Leu856Ter) c.1800+281T>A (n.1800+281T>A) c.1511T>A (p.Leu504Ter) c.762T>A n.3599T>A n.2146T>A c.2657T>A (p.Leu886Ter) n.212-3248T>A c.2705T>A (p.Leu902Ter) c.2765T>A (p.Leu922Ter) c.2315T>A (p.Leu772Ter) c.617T>A (p.Leu206Ter) c.2730+281T>A (n.2730+281T>A) c.2387T>A (p.Leu796Ter) c.1469T>A (p.Leu490Ter) n.3020T>A | |
| 13 | g.51949727A>C | CA388033609 | ATP7B | c.*633T>G (n.*633T>G) c.*1544T>G (n.*1544T>G) c.2244+280T>G (n.2244+280T>G) c.2800T>G (p.Leu934Val) c.2467T>G (p.Leu823Val) c.2548T>G (p.Leu850Val) c.2566T>G (p.Leu856Val) c.1800+280T>G (n.1800+280T>G) c.1510T>G (p.Leu504Val) c.761T>G n.3598T>G n.2145T>G c.2656T>G (p.Leu886Val) n.212-3249T>G c.2704T>G (p.Leu902Val) c.2764T>G (p.Leu922Val) c.2314T>G (p.Leu772Val) c.616T>G (p.Leu206Val) c.2730+280T>G (n.2730+280T>G) c.2386T>G (p.Leu796Val) c.1468T>G (p.Leu490Val) n.3019T>G | |
| 13 | g.51949727A>G | CA484024499 | ATP7B | c.*633T>C (n.*633T>C) c.*1544T>C (n.*1544T>C) c.2244+280T>C (n.2244+280T>C) c.2800T>C (p.Leu934=) c.2467T>C (p.Leu823=) c.2548T>C (p.Leu850=) c.2566T>C (p.Leu856=) c.1800+280T>C (n.1800+280T>C) c.1510T>C (p.Leu504=) c.761T>C n.3598T>C n.2145T>C c.2656T>C (p.Leu886=) n.212-3249T>C c.2704T>C (p.Leu902=) c.2764T>C (p.Leu922=) c.2314T>C (p.Leu772=) c.616T>C (p.Leu206=) c.2730+280T>C (n.2730+280T>C) c.2386T>C (p.Leu796=) c.1468T>C (p.Leu490=) n.3019T>C | |
| 13 | g.51949727A>T | CA388033611 | ATP7B | c.*633T>A (n.*633T>A) c.*1544T>A (n.*1544T>A) c.2244+280T>A (n.2244+280T>A) c.2800T>A (p.Leu934Met) c.2467T>A (p.Leu823Met) c.2548T>A (p.Leu850Met) c.2566T>A (p.Leu856Met) c.1800+280T>A (n.1800+280T>A) c.1510T>A (p.Leu504Met) c.761T>A n.3598T>A n.2145T>A c.2656T>A (p.Leu886Met) n.212-3249T>A c.2704T>A (p.Leu902Met) c.2764T>A (p.Leu922Met) c.2314T>A (p.Leu772Met) c.616T>A (p.Leu206Met) c.2730+280T>A (n.2730+280T>A) c.2386T>A (p.Leu796Met) c.1468T>A (p.Leu490Met) n.3019T>A | |
| 13 | g.51949728A>C | CA484024500 | ATP7B | c.*632T>G (n.*632T>G) c.*1543T>G (n.*1543T>G) c.2244+279T>G (n.2244+279T>G) c.2799T>G (p.Thr933=) c.2466T>G (p.Thr822=) c.2547T>G (p.Thr849=) c.2565T>G (p.Thr855=) c.1800+279T>G (n.1800+279T>G) c.1509T>G (p.Thr503=) c.760T>G n.3597T>G n.2144T>G c.2655T>G (p.Thr885=) n.212-3250T>G c.2703T>G (p.Thr901=) c.2763T>G (p.Thr921=) c.2313T>G (p.Thr771=) c.615T>G (p.Thr205=) c.2730+279T>G (n.2730+279T>G) c.2385T>G (p.Thr795=) c.1467T>G (p.Thr489=) n.3018T>G | |
| 13 | g.51949728A>G | CA484024501 | ATP7B | c.*632T>C (n.*632T>C) c.*1543T>C (n.*1543T>C) c.2244+279T>C (n.2244+279T>C) c.2799T>C (p.Thr933=) c.2466T>C (p.Thr822=) c.2547T>C (p.Thr849=) c.2565T>C (p.Thr855=) c.1800+279T>C (n.1800+279T>C) c.1509T>C (p.Thr503=) c.760T>C n.3597T>C n.2144T>C c.2655T>C (p.Thr885=) n.212-3250T>C c.2703T>C (p.Thr901=) c.2763T>C (p.Thr921=) c.2313T>C (p.Thr771=) c.615T>C (p.Thr205=) c.2730+279T>C (n.2730+279T>C) c.2385T>C (p.Thr795=) c.1467T>C (p.Thr489=) n.3018T>C | |
| 13 | g.51949728A>T | CA484024502 | ATP7B | c.*632T>A (n.*632T>A) c.*1543T>A (n.*1543T>A) c.2244+279T>A (n.2244+279T>A) c.2799T>A (p.Thr933=) c.2466T>A (p.Thr822=) c.2547T>A (p.Thr849=) c.2565T>A (p.Thr855=) c.1800+279T>A (n.1800+279T>A) c.1509T>A (p.Thr503=) c.760T>A n.3597T>A n.2144T>A c.2655T>A (p.Thr885=) n.212-3250T>A c.2703T>A (p.Thr901=) c.2763T>A (p.Thr921=) c.2313T>A (p.Thr771=) c.615T>A (p.Thr205=) c.2730+279T>A (n.2730+279T>A) c.2385T>A (p.Thr795=) c.1467T>A (p.Thr489=) n.3018T>A | |
| 13 | g.51949729G>A | CA388033615 | ATP7B | c.*631C>T (n.*631C>T) c.*1542C>T (n.*1542C>T) c.2244+278C>T (n.2244+278C>T) c.2798C>T (p.Thr933Ile) c.2465C>T (p.Thr822Ile) c.2546C>T (p.Thr849Ile) c.2564C>T (p.Thr855Ile) c.1800+278C>T (n.1800+278C>T) c.1508C>T (p.Thr503Ile) c.759C>T n.3596C>T n.2143C>T c.2654C>T (p.Thr885Ile) n.212-3251C>T c.2702C>T (p.Thr901Ile) c.2762C>T (p.Thr921Ile) c.2312C>T (p.Thr771Ile) c.614C>T (p.Thr205Ile) c.2730+278C>T (n.2730+278C>T) c.2384C>T (p.Thr795Ile) c.1466C>T (p.Thr489Ile) n.3017C>T |