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.51950338_51950372del | CA2739277669 | ATP7B | c.*309_*343del (n.*309_*343del) c.*1220_*1254del (n.*1220_*1254del) c.1990_2024del (p.Gln664LysfsTer16) c.2476_2510del (p.Gln826LysfsTer16) c.2143_2177del (p.Gln715LysfsTer16) c.2224_2258del (p.Gln742LysfsTer16) c.2242_2276del (p.Gln748LysfsTer16) c.1546_1580del (p.Gln516LysfsTer16) c.1286-210_1286-176del (n.1286-210_1286-176del) c.437_471del n.3274_3308del n.1821_1855del c.2332_2366del (p.Gln778LysfsTer16) n.212-3893_212-3859del c.2380_2414del (p.Gln794LysfsTer16) c.2440_2474del (p.Gln814LysfsTer16) c.292_326del (p.Gln98LysfsTer16) c.2062_2096del (p.Gln688LysfsTer16) c.1144_1178del (p.Gln382LysfsTer16) n.2695_2729del | ClinVar |
| 13 | g.51950351_51950352delinsTC | CA2499222479 | ATP7B | c.*328_*329delinsGA (n.*328_*329delinsGA) c.*1239_*1240delinsGA (n.*1239_*1240delinsGA) c.2009_2010delinsGA (p.Lys670Arg) c.2495_2496delinsGA (p.Lys832Arg) c.2162_2163delinsGA (p.Lys721Arg) c.2243_2244delinsGA (p.Lys748Arg) c.2261_2262delinsGA (p.Lys754Arg) c.1565_1566delinsGA (p.Lys522Arg) c.1286-191_1286-190delinsGA (n.1286-191_1286-190delinsGA) c.456_457delinsGA n.3293_3294delinsGA n.1840_1841delinsGA c.2351_2352delinsGA (p.Lys784Arg) n.212-3874_212-3873delinsGA c.2399_2400delinsGA (p.Lys800Arg) c.2459_2460delinsGA (p.Lys820Arg) c.311_312delinsGA (p.Lys104Arg) c.2081_2082delinsGA (p.Lys694Arg) c.1163_1164delinsGA (p.Lys388Arg) n.2714_2715delinsGA | ClinVar dbSNP |
| 13 | g.51950352T>A | CA388016581 | ATP7B | c.*328A>T (n.*328A>T) c.*1239A>T (n.*1239A>T) c.2009A>T (p.Lys670Met) c.2495A>T (p.Lys832Met) c.2162A>T (p.Lys721Met) c.2243A>T (p.Lys748Met) c.2261A>T (p.Lys754Met) c.1565A>T (p.Lys522Met) c.1286-191A>T (n.1286-191A>T) c.456A>T n.3293A>T n.1840A>T c.2351A>T (p.Lys784Met) n.212-3874A>T c.2399A>T (p.Lys800Met) c.2459A>T (p.Lys820Met) c.311A>T (p.Lys104Met) c.2081A>T (p.Lys694Met) c.1163A>T (p.Lys388Met) n.2714A>T | |
| 13 | g.51950352T>C | CA145674 | ATP7B | c.*328A>G (n.*328A>G) c.*1239A>G (n.*1239A>G) c.2009A>G (p.Lys670Arg) c.2495A>G (p.Lys832Arg) c.2162A>G (p.Lys721Arg) c.2243A>G (p.Lys748Arg) c.2261A>G (p.Lys754Arg) c.1565A>G (p.Lys522Arg) c.1286-191A>G (n.1286-191A>G) c.456A>G n.3293A>G n.1840A>G c.2351A>G (p.Lys784Arg) n.212-3874A>G c.2399A>G (p.Lys800Arg) c.2459A>G (p.Lys820Arg) c.311A>G (p.Lys104Arg) c.2081A>G (p.Lys694Arg) c.1163A>G (p.Lys388Arg) n.2714A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51950352T>G | CA388016584 | ATP7B | c.*328A>C (n.*328A>C) c.*1239A>C (n.*1239A>C) c.2009A>C (p.Lys670Thr) c.2495A>C (p.Lys832Thr) c.2162A>C (p.Lys721Thr) c.2243A>C (p.Lys748Thr) c.2261A>C (p.Lys754Thr) c.1565A>C (p.Lys522Thr) c.1286-191A>C (n.1286-191A>C) c.456A>C n.3293A>C n.1840A>C c.2351A>C (p.Lys784Thr) n.212-3874A>C c.2399A>C (p.Lys800Thr) c.2459A>C (p.Lys820Thr) c.311A>C (p.Lys104Thr) c.2081A>C (p.Lys694Thr) c.1163A>C (p.Lys388Thr) n.2714A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.51950352T= | CA2091542418 | ATP7B | c.*328A= (n.*328A=) c.*1239A= (n.*1239A=) c.2009A= (p.Lys670=) c.2495A= (p.Lys832=) c.2162A= (p.Lys721=) c.2243A= (p.Lys748=) c.2261A= (p.Lys754=) c.1565A= (p.Lys522=) c.1286-191A= (n.1286-191A=) c.456A= n.3293A= n.1840A= c.2351A= (p.Lys784=) n.212-3874A= c.2399A= (p.Lys800=) c.2459A= (p.Lys820=) c.311A= (p.Lys104=) c.2081A= (p.Lys694=) c.1163A= (p.Lys388=) n.2714A= | |
| 13 | g.51950353T>A | CA388016589 | ATP7B | c.*327A>T (n.*327A>T) c.*1238A>T (n.*1238A>T) c.2008A>T (p.Lys670Ter) c.2494A>T (p.Lys832Ter) c.2161A>T (p.Lys721Ter) c.2242A>T (p.Lys748Ter) c.2260A>T (p.Lys754Ter) c.1564A>T (p.Lys522Ter) c.1286-192A>T (n.1286-192A>T) c.455A>T n.3292A>T n.1839A>T c.2350A>T (p.Lys784Ter) n.212-3875A>T c.2398A>T (p.Lys800Ter) c.2458A>T (p.Lys820Ter) c.310A>T (p.Lys104Ter) c.2080A>T (p.Lys694Ter) c.1162A>T (p.Lys388Ter) n.2713A>T | |
| 13 | g.51950353T>C | CA388016590 | ATP7B | c.*327A>G (n.*327A>G) c.*1238A>G (n.*1238A>G) c.2008A>G (p.Lys670Glu) c.2494A>G (p.Lys832Glu) c.2161A>G (p.Lys721Glu) c.2242A>G (p.Lys748Glu) c.2260A>G (p.Lys754Glu) c.1564A>G (p.Lys522Glu) c.1286-192A>G (n.1286-192A>G) c.455A>G n.3292A>G n.1839A>G c.2350A>G (p.Lys784Glu) n.212-3875A>G c.2398A>G (p.Lys800Glu) c.2458A>G (p.Lys820Glu) c.310A>G (p.Lys104Glu) c.2080A>G (p.Lys694Glu) c.1162A>G (p.Lys388Glu) n.2713A>G | |
| 13 | g.51950353T>G | CA388016591 | ATP7B | c.*327A>C (n.*327A>C) c.*1238A>C (n.*1238A>C) c.2008A>C (p.Lys670Gln) c.2494A>C (p.Lys832Gln) c.2161A>C (p.Lys721Gln) c.2242A>C (p.Lys748Gln) c.2260A>C (p.Lys754Gln) c.1564A>C (p.Lys522Gln) c.1286-192A>C (n.1286-192A>C) c.455A>C n.3292A>C n.1839A>C c.2350A>C (p.Lys784Gln) n.212-3875A>C c.2398A>C (p.Lys800Gln) c.2458A>C (p.Lys820Gln) c.310A>C (p.Lys104Gln) c.2080A>C (p.Lys694Gln) c.1162A>C (p.Lys388Gln) n.2713A>C | gnomAD v4 |
| 13 | g.51950354G>A | CA6988988 | ATP7B | c.*326C>T (n.*326C>T) c.*1237C>T (n.*1237C>T) c.2007C>T (p.Val669=) c.2493C>T (p.Val831=) c.2160C>T (p.Val720=) c.2241C>T (p.Val747=) c.2259C>T (p.Val753=) c.1563C>T (p.Val521=) c.1286-193C>T (n.1286-193C>T) c.454C>T n.3291C>T n.1838C>T c.2349C>T (p.Val783=) n.212-3876C>T c.2397C>T (p.Val799=) c.2457C>T (p.Val819=) c.309C>T (p.Val103=) c.2079C>T (p.Val693=) c.1161C>T (p.Val387=) n.2712C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51950354G>C | CA483895779 | ATP7B | c.*326C>G (n.*326C>G) c.*1237C>G (n.*1237C>G) c.2007C>G (p.Val669=) c.2493C>G (p.Val831=) c.2160C>G (p.Val720=) c.2241C>G (p.Val747=) c.2259C>G (p.Val753=) c.1563C>G (p.Val521=) c.1286-193C>G (n.1286-193C>G) c.454C>G n.3291C>G n.1838C>G c.2349C>G (p.Val783=) n.212-3876C>G c.2397C>G (p.Val799=) c.2457C>G (p.Val819=) c.309C>G (p.Val103=) c.2079C>G (p.Val693=) c.1161C>G (p.Val387=) n.2712C>G | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.51950354G= | CA2091542425 | ATP7B | c.*326C= (n.*326C=) c.*1237C= (n.*1237C=) c.2007C= (p.Val669=) c.2493C= (p.Val831=) c.2160C= (p.Val720=) c.2241C= (p.Val747=) c.2259C= (p.Val753=) c.1563C= (p.Val521=) c.1286-193C= (n.1286-193C=) c.454C= n.3291C= n.1838C= c.2349C= (p.Val783=) n.212-3876C= c.2397C= (p.Val799=) c.2457C= (p.Val819=) c.309C= (p.Val103=) c.2079C= (p.Val693=) c.1161C= (p.Val387=) n.2712C= | |
| 13 | g.51950354G>T | CA483895780 | ATP7B | c.*326C>A (n.*326C>A) c.*1237C>A (n.*1237C>A) c.2007C>A (p.Val669=) c.2493C>A (p.Val831=) c.2160C>A (p.Val720=) c.2241C>A (p.Val747=) c.2259C>A (p.Val753=) c.1563C>A (p.Val521=) c.1286-193C>A (n.1286-193C>A) c.454C>A n.3291C>A n.1838C>A c.2349C>A (p.Val783=) n.212-3876C>A c.2397C>A (p.Val799=) c.2457C>A (p.Val819=) c.309C>A (p.Val103=) c.2079C>A (p.Val693=) c.1161C>A (p.Val387=) n.2712C>A | |
| 13 | g.51950355A>C | CA388016601 | ATP7B | c.*325T>G (n.*325T>G) c.*1236T>G (n.*1236T>G) c.2006T>G (p.Val669Gly) c.2492T>G (p.Val831Gly) c.2159T>G (p.Val720Gly) c.2240T>G (p.Val747Gly) c.2258T>G (p.Val753Gly) c.1562T>G (p.Val521Gly) c.1286-194T>G (n.1286-194T>G) c.453T>G n.3290T>G n.1837T>G c.2348T>G (p.Val783Gly) n.212-3877T>G c.2396T>G (p.Val799Gly) c.2456T>G (p.Val819Gly) c.308T>G (p.Val103Gly) c.2078T>G (p.Val693Gly) c.1160T>G (p.Val387Gly) n.2711T>G | |
| 13 | g.51950355A>G | CA388016605 | ATP7B | c.*325T>C (n.*325T>C) c.*1236T>C (n.*1236T>C) c.2006T>C (p.Val669Ala) c.2492T>C (p.Val831Ala) c.2159T>C (p.Val720Ala) c.2240T>C (p.Val747Ala) c.2258T>C (p.Val753Ala) c.1562T>C (p.Val521Ala) c.1286-194T>C (n.1286-194T>C) c.453T>C n.3290T>C n.1837T>C c.2348T>C (p.Val783Ala) n.212-3877T>C c.2396T>C (p.Val799Ala) c.2456T>C (p.Val819Ala) c.308T>C (p.Val103Ala) c.2078T>C (p.Val693Ala) c.1160T>C (p.Val387Ala) n.2711T>C | gnomAD v4 |
| 13 | g.51950355A>T | CA388016606 | ATP7B | c.*325T>A (n.*325T>A) c.*1236T>A (n.*1236T>A) c.2006T>A (p.Val669Asp) c.2492T>A (p.Val831Asp) c.2159T>A (p.Val720Asp) c.2240T>A (p.Val747Asp) c.2258T>A (p.Val753Asp) c.1562T>A (p.Val521Asp) c.1286-194T>A (n.1286-194T>A) c.453T>A n.3290T>A n.1837T>A c.2348T>A (p.Val783Asp) n.212-3877T>A c.2396T>A (p.Val799Asp) c.2456T>A (p.Val819Asp) c.308T>A (p.Val103Asp) c.2078T>A (p.Val693Asp) c.1160T>A (p.Val387Asp) n.2711T>A | |
| 13 | g.51950356C>A | CA388016611 | ATP7B | c.*324G>T (n.*324G>T) c.*1235G>T (n.*1235G>T) c.2005G>T (p.Val669Phe) c.2491G>T (p.Val831Phe) c.2158G>T (p.Val720Phe) c.2239G>T (p.Val747Phe) c.2257G>T (p.Val753Phe) c.1561G>T (p.Val521Phe) c.1286-195G>T (n.1286-195G>T) c.452G>T n.3289G>T n.1836G>T c.2347G>T (p.Val783Phe) n.212-3878G>T c.2395G>T (p.Val799Phe) c.2455G>T (p.Val819Phe) c.307G>T (p.Val103Phe) c.2077G>T (p.Val693Phe) c.1159G>T (p.Val387Phe) n.2710G>T | |
| 13 | g.51950356C= | CA2091542428 | ATP7B | c.*324G= (n.*324G=) c.*1235G= (n.*1235G=) c.2005G= (p.Val669=) c.2491G= (p.Val831=) c.2158G= (p.Val720=) c.2239G= (p.Val747=) c.2257G= (p.Val753=) c.1561G= (p.Val521=) c.1286-195G= (n.1286-195G=) c.452G= n.3289G= n.1836G= c.2347G= (p.Val783=) n.212-3878G= c.2395G= (p.Val799=) c.2455G= (p.Val819=) c.307G= (p.Val103=) c.2077G= (p.Val693=) c.1159G= (p.Val387=) n.2710G= | |
| 13 | g.51950356C>G | CA388016617 | ATP7B | c.*324G>C (n.*324G>C) c.*1235G>C (n.*1235G>C) c.2005G>C (p.Val669Leu) c.2491G>C (p.Val831Leu) c.2158G>C (p.Val720Leu) c.2239G>C (p.Val747Leu) c.2257G>C (p.Val753Leu) c.1561G>C (p.Val521Leu) c.1286-195G>C (n.1286-195G>C) c.452G>C n.3289G>C n.1836G>C c.2347G>C (p.Val783Leu) n.212-3878G>C c.2395G>C (p.Val799Leu) c.2455G>C (p.Val819Leu) c.307G>C (p.Val103Leu) c.2077G>C (p.Val693Leu) c.1159G>C (p.Val387Leu) n.2710G>C | gnomAD v4 |
| 13 | g.51950356C>T | CA6988989 | ATP7B | c.*324G>A (n.*324G>A) c.*1235G>A (n.*1235G>A) c.2005G>A (p.Val669Ile) c.2491G>A (p.Val831Ile) c.2158G>A (p.Val720Ile) c.2239G>A (p.Val747Ile) c.2257G>A (p.Val753Ile) c.1561G>A (p.Val521Ile) c.1286-195G>A (n.1286-195G>A) c.452G>A n.3289G>A n.1836G>A c.2347G>A (p.Val783Ile) n.212-3878G>A c.2395G>A (p.Val799Ile) c.2455G>A (p.Val819Ile) c.307G>A (p.Val103Ile) c.2077G>A (p.Val693Ile) c.1159G>A (p.Val387Ile) n.2710G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51950357G>A | CA6988990 | ATP7B | c.*323C>T (n.*323C>T) c.*1234C>T (n.*1234C>T) c.2004C>T (p.Ile668=) c.2490C>T (p.Ile830=) c.2157C>T (p.Ile719=) c.2238C>T (p.Ile746=) c.2256C>T (p.Ile752=) c.1560C>T (p.Ile520=) c.1286-196C>T (n.1286-196C>T) c.451C>T n.3288C>T n.1835C>T c.2346C>T (p.Ile782=) n.212-3879C>T c.2394C>T (p.Ile798=) c.2454C>T (p.Ile818=) c.306C>T (p.Ile102=) c.2076C>T (p.Ile692=) c.1158C>T (p.Ile386=) n.2709C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51950357G>C | CA388016627 | ATP7B | c.*323C>G (n.*323C>G) c.*1234C>G (n.*1234C>G) c.2004C>G (p.Ile668Met) c.2490C>G (p.Ile830Met) c.2157C>G (p.Ile719Met) c.2238C>G (p.Ile746Met) c.2256C>G (p.Ile752Met) c.1560C>G (p.Ile520Met) c.1286-196C>G (n.1286-196C>G) c.451C>G n.3288C>G n.1835C>G c.2346C>G (p.Ile782Met) n.212-3879C>G c.2394C>G (p.Ile798Met) c.2454C>G (p.Ile818Met) c.306C>G (p.Ile102Met) c.2076C>G (p.Ile692Met) c.1158C>G (p.Ile386Met) n.2709C>G | |
| 13 | g.51950357G= | CA2091542430 | ATP7B | c.*323C= (n.*323C=) c.*1234C= (n.*1234C=) c.2004C= (p.Ile668=) c.2490C= (p.Ile830=) c.2157C= (p.Ile719=) c.2238C= (p.Ile746=) c.2256C= (p.Ile752=) c.1560C= (p.Ile520=) c.1286-196C= (n.1286-196C=) c.451C= n.3288C= n.1835C= c.2346C= (p.Ile782=) n.212-3879C= c.2394C= (p.Ile798=) c.2454C= (p.Ile818=) c.306C= (p.Ile102=) c.2076C= (p.Ile692=) c.1158C= (p.Ile386=) n.2709C= | |
| 13 | g.51950357G>T | CA483895781 | ATP7B | c.*323C>A (n.*323C>A) c.*1234C>A (n.*1234C>A) c.2004C>A (p.Ile668=) c.2490C>A (p.Ile830=) c.2157C>A (p.Ile719=) c.2238C>A (p.Ile746=) c.2256C>A (p.Ile752=) c.1560C>A (p.Ile520=) c.1286-196C>A (n.1286-196C>A) c.451C>A n.3288C>A n.1835C>A c.2346C>A (p.Ile782=) n.212-3879C>A c.2394C>A (p.Ile798=) c.2454C>A (p.Ile818=) c.306C>A (p.Ile102=) c.2076C>A (p.Ile692=) c.1158C>A (p.Ile386=) n.2709C>A | |
| 13 | g.51950358A= | CA2091542435 | ATP7B | c.*322T= (n.*322T=) c.*1233T= (n.*1233T=) c.2003T= (p.Ile668=) c.2489T= (p.Ile830=) c.2156T= (p.Ile719=) c.2237T= (p.Ile746=) c.2255T= (p.Ile752=) c.1559T= (p.Ile520=) c.1286-197T= (n.1286-197T=) c.450T= n.3287T= n.1834T= c.2345T= (p.Ile782=) n.212-3880T= c.2393T= (p.Ile798=) c.2453T= (p.Ile818=) c.305T= (p.Ile102=) c.2075T= (p.Ile692=) c.1157T= (p.Ile386=) n.2708T= | |
| 13 | g.51950358A>C | CA388016632 | ATP7B | c.*322T>G (n.*322T>G) c.*1233T>G (n.*1233T>G) c.2003T>G (p.Ile668Ser) c.2489T>G (p.Ile830Ser) c.2156T>G (p.Ile719Ser) c.2237T>G (p.Ile746Ser) c.2255T>G (p.Ile752Ser) c.1559T>G (p.Ile520Ser) c.1286-197T>G (n.1286-197T>G) c.450T>G n.3287T>G n.1834T>G c.2345T>G (p.Ile782Ser) n.212-3880T>G c.2393T>G (p.Ile798Ser) c.2453T>G (p.Ile818Ser) c.305T>G (p.Ile102Ser) c.2075T>G (p.Ile692Ser) c.1157T>G (p.Ile386Ser) n.2708T>G | dbSNP |
| 13 | g.51950358A>G | CA388016636 | ATP7B | c.*322T>C (n.*322T>C) c.*1233T>C (n.*1233T>C) c.2003T>C (p.Ile668Thr) c.2489T>C (p.Ile830Thr) c.2156T>C (p.Ile719Thr) c.2237T>C (p.Ile746Thr) c.2255T>C (p.Ile752Thr) c.1559T>C (p.Ile520Thr) c.1286-197T>C (n.1286-197T>C) c.450T>C n.3287T>C n.1834T>C c.2345T>C (p.Ile782Thr) n.212-3880T>C c.2393T>C (p.Ile798Thr) c.2453T>C (p.Ile818Thr) c.305T>C (p.Ile102Thr) c.2075T>C (p.Ile692Thr) c.1157T>C (p.Ile386Thr) n.2708T>C | gnomAD v4 |
| 13 | g.51950358A>T | CA388016645 | ATP7B | c.*322T>A (n.*322T>A) c.*1233T>A (n.*1233T>A) c.2003T>A (p.Ile668Asn) c.2489T>A (p.Ile830Asn) c.2156T>A (p.Ile719Asn) c.2237T>A (p.Ile746Asn) c.2255T>A (p.Ile752Asn) c.1559T>A (p.Ile520Asn) c.1286-197T>A (n.1286-197T>A) c.450T>A n.3287T>A n.1834T>A c.2345T>A (p.Ile782Asn) n.212-3880T>A c.2393T>A (p.Ile798Asn) c.2453T>A (p.Ile818Asn) c.305T>A (p.Ile102Asn) c.2075T>A (p.Ile692Asn) c.1157T>A (p.Ile386Asn) n.2708T>A | |
| 13 | g.51950359T>A | CA388016649 | ATP7B | c.*321A>T (n.*321A>T) c.*1232A>T (n.*1232A>T) c.2002A>T (p.Ile668Phe) c.2488A>T (p.Ile830Phe) c.2155A>T (p.Ile719Phe) c.2236A>T (p.Ile746Phe) c.2254A>T (p.Ile752Phe) c.1558A>T (p.Ile520Phe) c.1286-198A>T (n.1286-198A>T) c.449A>T n.3286A>T n.1833A>T c.2344A>T (p.Ile782Phe) n.212-3881A>T c.2392A>T (p.Ile798Phe) c.2452A>T (p.Ile818Phe) c.304A>T (p.Ile102Phe) c.2074A>T (p.Ile692Phe) c.1156A>T (p.Ile386Phe) n.2707A>T | |
| 13 | g.51950359T>C | CA388016655 | ATP7B | c.*321A>G (n.*321A>G) c.*1232A>G (n.*1232A>G) c.2002A>G (p.Ile668Val) c.2488A>G (p.Ile830Val) c.2155A>G (p.Ile719Val) c.2236A>G (p.Ile746Val) c.2254A>G (p.Ile752Val) c.1558A>G (p.Ile520Val) c.1286-198A>G (n.1286-198A>G) c.449A>G n.3286A>G n.1833A>G c.2344A>G (p.Ile782Val) n.212-3881A>G c.2392A>G (p.Ile798Val) c.2452A>G (p.Ile818Val) c.304A>G (p.Ile102Val) c.2074A>G (p.Ile692Val) c.1156A>G (p.Ile386Val) n.2707A>G | |
| 13 | g.51950359T>G | CA388016660 | ATP7B | c.*321A>C (n.*321A>C) c.*1232A>C (n.*1232A>C) c.2002A>C (p.Ile668Leu) c.2488A>C (p.Ile830Leu) c.2155A>C (p.Ile719Leu) c.2236A>C (p.Ile746Leu) c.2254A>C (p.Ile752Leu) c.1558A>C (p.Ile520Leu) c.1286-198A>C (n.1286-198A>C) c.449A>C n.3286A>C n.1833A>C c.2344A>C (p.Ile782Leu) n.212-3881A>C c.2392A>C (p.Ile798Leu) c.2452A>C (p.Ile818Leu) c.304A>C (p.Ile102Leu) c.2074A>C (p.Ile692Leu) c.1156A>C (p.Ile386Leu) n.2707A>C | |
| 13 | g.51950360A>C | CA388016665 | ATP7B | c.*320T>G (n.*320T>G) c.*1231T>G (n.*1231T>G) c.2001T>G (p.Asp667Glu) c.2487T>G (p.Asp829Glu) c.2154T>G (p.Asp718Glu) c.2235T>G (p.Asp745Glu) c.2253T>G (p.Asp751Glu) c.1557T>G (p.Asp519Glu) c.1286-199T>G (n.1286-199T>G) c.448T>G n.3285T>G n.1832T>G c.2343T>G (p.Asp781Glu) n.212-3882T>G c.2391T>G (p.Asp797Glu) c.2451T>G (p.Asp817Glu) c.303T>G (p.Asp101Glu) c.2073T>G (p.Asp691Glu) c.1155T>G (p.Asp385Glu) n.2706T>G | |
| 13 | g.51950360A>G | CA483895782 | ATP7B | c.*320T>C (n.*320T>C) c.*1231T>C (n.*1231T>C) c.2001T>C (p.Asp667=) c.2487T>C (p.Asp829=) c.2154T>C (p.Asp718=) c.2235T>C (p.Asp745=) c.2253T>C (p.Asp751=) c.1557T>C (p.Asp519=) c.1286-199T>C (n.1286-199T>C) c.448T>C n.3285T>C n.1832T>C c.2343T>C (p.Asp781=) n.212-3882T>C c.2391T>C (p.Asp797=) c.2451T>C (p.Asp817=) c.303T>C (p.Asp101=) c.2073T>C (p.Asp691=) c.1155T>C (p.Asp385=) n.2706T>C | |
| 13 | g.51950360A>T | CA388016669 | ATP7B | c.*320T>A (n.*320T>A) c.*1231T>A (n.*1231T>A) c.2001T>A (p.Asp667Glu) c.2487T>A (p.Asp829Glu) c.2154T>A (p.Asp718Glu) c.2235T>A (p.Asp745Glu) c.2253T>A (p.Asp751Glu) c.1557T>A (p.Asp519Glu) c.1286-199T>A (n.1286-199T>A) c.448T>A n.3285T>A n.1832T>A c.2343T>A (p.Asp781Glu) n.212-3882T>A c.2391T>A (p.Asp797Glu) c.2451T>A (p.Asp817Glu) c.303T>A (p.Asp101Glu) c.2073T>A (p.Asp691Glu) c.1155T>A (p.Asp385Glu) n.2706T>A | |
| 13 | g.51950361T>A | CA388016678 | ATP7B | c.*319A>T (n.*319A>T) c.*1230A>T (n.*1230A>T) c.2000A>T (p.Asp667Val) c.2486A>T (p.Asp829Val) c.2153A>T (p.Asp718Val) c.2234A>T (p.Asp745Val) c.2252A>T (p.Asp751Val) c.1556A>T (p.Asp519Val) c.1286-200A>T (n.1286-200A>T) c.447A>T n.3284A>T n.1831A>T c.2342A>T (p.Asp781Val) n.212-3883A>T c.2390A>T (p.Asp797Val) c.2450A>T (p.Asp817Val) c.302A>T (p.Asp101Val) c.2072A>T (p.Asp691Val) c.1154A>T (p.Asp385Val) n.2705A>T | ClinVar gnomAD v4 |
| 13 | g.51950361T>C | CA388016681 | ATP7B | c.*319A>G (n.*319A>G) c.*1230A>G (n.*1230A>G) c.2000A>G (p.Asp667Gly) c.2486A>G (p.Asp829Gly) c.2153A>G (p.Asp718Gly) c.2234A>G (p.Asp745Gly) c.2252A>G (p.Asp751Gly) c.1556A>G (p.Asp519Gly) c.1286-200A>G (n.1286-200A>G) c.447A>G n.3284A>G n.1831A>G c.2342A>G (p.Asp781Gly) n.212-3883A>G c.2390A>G (p.Asp797Gly) c.2450A>G (p.Asp817Gly) c.302A>G (p.Asp101Gly) c.2072A>G (p.Asp691Gly) c.1154A>G (p.Asp385Gly) n.2705A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.51950361T>G | CA388016685 | ATP7B | c.*319A>C (n.*319A>C) c.*1230A>C (n.*1230A>C) c.2000A>C (p.Asp667Ala) c.2486A>C (p.Asp829Ala) c.2153A>C (p.Asp718Ala) c.2234A>C (p.Asp745Ala) c.2252A>C (p.Asp751Ala) c.1556A>C (p.Asp519Ala) c.1286-200A>C (n.1286-200A>C) c.447A>C n.3284A>C n.1831A>C c.2342A>C (p.Asp781Ala) n.212-3883A>C c.2390A>C (p.Asp797Ala) c.2450A>C (p.Asp817Ala) c.302A>C (p.Asp101Ala) c.2072A>C (p.Asp691Ala) c.1154A>C (p.Asp385Ala) n.2705A>C | |
| 13 | g.51950361T= | CA2091542440 | ATP7B | c.*319A= (n.*319A=) c.*1230A= (n.*1230A=) c.2000A= (p.Asp667=) c.2486A= (p.Asp829=) c.2153A= (p.Asp718=) c.2234A= (p.Asp745=) c.2252A= (p.Asp751=) c.1556A= (p.Asp519=) c.1286-200A= (n.1286-200A=) c.447A= n.3284A= n.1831A= c.2342A= (p.Asp781=) n.212-3883A= c.2390A= (p.Asp797=) c.2450A= (p.Asp817=) c.302A= (p.Asp101=) c.2072A= (p.Asp691=) c.1154A= (p.Asp385=) n.2705A= | |
| 13 | g.51950362C>A | CA388016693 | ATP7B | c.*318G>T (n.*318G>T) c.*1229G>T (n.*1229G>T) c.1999G>T (p.Asp667Tyr) c.2485G>T (p.Asp829Tyr) c.2152G>T (p.Asp718Tyr) c.2233G>T (p.Asp745Tyr) c.2251G>T (p.Asp751Tyr) c.1555G>T (p.Asp519Tyr) c.1286-201G>T (n.1286-201G>T) c.446G>T n.3283G>T n.1830G>T c.2341G>T (p.Asp781Tyr) n.212-3884G>T c.2389G>T (p.Asp797Tyr) c.2449G>T (p.Asp817Tyr) c.301G>T (p.Asp101Tyr) c.2071G>T (p.Asp691Tyr) c.1153G>T (p.Asp385Tyr) n.2704G>T | |
| 13 | g.51950362C= | CA2091542445 | ATP7B | c.*318G= (n.*318G=) c.*1229G= (n.*1229G=) c.1999G= (p.Asp667=) c.2485G= (p.Asp829=) c.2152G= (p.Asp718=) c.2233G= (p.Asp745=) c.2251G= (p.Asp751=) c.1555G= (p.Asp519=) c.1286-201G= (n.1286-201G=) c.446G= n.3283G= n.1830G= c.2341G= (p.Asp781=) n.212-3884G= c.2389G= (p.Asp797=) c.2449G= (p.Asp817=) c.301G= (p.Asp101=) c.2071G= (p.Asp691=) c.1153G= (p.Asp385=) n.2704G= | |
| 13 | g.51950362C>G | CA250058572 | ATP7B | c.*318G>C (n.*318G>C) c.*1229G>C (n.*1229G>C) c.1999G>C (p.Asp667His) c.2485G>C (p.Asp829His) c.2152G>C (p.Asp718His) c.2233G>C (p.Asp745His) c.2251G>C (p.Asp751His) c.1555G>C (p.Asp519His) c.1286-201G>C (n.1286-201G>C) c.446G>C n.3283G>C n.1830G>C c.2341G>C (p.Asp781His) n.212-3884G>C c.2389G>C (p.Asp797His) c.2449G>C (p.Asp817His) c.301G>C (p.Asp101His) c.2071G>C (p.Asp691His) c.1153G>C (p.Asp385His) n.2704G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.51950362C>T | CA6988991 | ATP7B | c.*318G>A (n.*318G>A) c.*1229G>A (n.*1229G>A) c.1999G>A (p.Asp667Asn) c.2485G>A (p.Asp829Asn) c.2152G>A (p.Asp718Asn) c.2233G>A (p.Asp745Asn) c.2251G>A (p.Asp751Asn) c.1555G>A (p.Asp519Asn) c.1286-201G>A (n.1286-201G>A) c.446G>A n.3283G>A n.1830G>A c.2341G>A (p.Asp781Asn) n.212-3884G>A c.2389G>A (p.Asp797Asn) c.2449G>A (p.Asp817Asn) c.301G>A (p.Asp101Asn) c.2071G>A (p.Asp691Asn) c.1153G>A (p.Asp385Asn) n.2704G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51950363G>A | CA6988992 | ATP7B | c.*317C>T (n.*317C>T) c.*1228C>T (n.*1228C>T) c.1998C>T (p.Gly666=) c.2484C>T (p.Gly828=) c.2151C>T (p.Gly717=) c.2232C>T (p.Gly744=) c.2250C>T (p.Gly750=) c.1554C>T (p.Gly518=) c.1286-202C>T (n.1286-202C>T) c.445C>T n.3282C>T n.1829C>T c.2340C>T (p.Gly780=) n.212-3885C>T c.2388C>T (p.Gly796=) c.2448C>T (p.Gly816=) c.300C>T (p.Gly100=) c.2070C>T (p.Gly690=) c.1152C>T (p.Gly384=) n.2703C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51950363G>C | CA483895783 | ATP7B | c.*317C>G (n.*317C>G) c.*1228C>G (n.*1228C>G) c.1998C>G (p.Gly666=) c.2484C>G (p.Gly828=) c.2151C>G (p.Gly717=) c.2232C>G (p.Gly744=) c.2250C>G (p.Gly750=) c.1554C>G (p.Gly518=) c.1286-202C>G (n.1286-202C>G) c.445C>G n.3282C>G n.1829C>G c.2340C>G (p.Gly780=) n.212-3885C>G c.2388C>G (p.Gly796=) c.2448C>G (p.Gly816=) c.300C>G (p.Gly100=) c.2070C>G (p.Gly690=) c.1152C>G (p.Gly384=) n.2703C>G | |
| 13 | g.51950363G= | CA2091542453 | ATP7B | c.*317C= (n.*317C=) c.*1228C= (n.*1228C=) c.1998C= (p.Gly666=) c.2484C= (p.Gly828=) c.2151C= (p.Gly717=) c.2232C= (p.Gly744=) c.2250C= (p.Gly750=) c.1554C= (p.Gly518=) c.1286-202C= (n.1286-202C=) c.445C= n.3282C= n.1829C= c.2340C= (p.Gly780=) n.212-3885C= c.2388C= (p.Gly796=) c.2448C= (p.Gly816=) c.300C= (p.Gly100=) c.2070C= (p.Gly690=) c.1152C= (p.Gly384=) n.2703C= | |
| 13 | g.51950363G>T | CA483895784 | ATP7B | c.*317C>A (n.*317C>A) c.*1228C>A (n.*1228C>A) c.1998C>A (p.Gly666=) c.2484C>A (p.Gly828=) c.2151C>A (p.Gly717=) c.2232C>A (p.Gly744=) c.2250C>A (p.Gly750=) c.1554C>A (p.Gly518=) c.1286-202C>A (n.1286-202C>A) c.445C>A n.3282C>A n.1829C>A c.2340C>A (p.Gly780=) n.212-3885C>A c.2388C>A (p.Gly796=) c.2448C>A (p.Gly816=) c.300C>A (p.Gly100=) c.2070C>A (p.Gly690=) c.1152C>A (p.Gly384=) n.2703C>A | |
| 13 | g.51950364C>A | CA388016699 | ATP7B | c.*316G>T (n.*316G>T) c.*1227G>T (n.*1227G>T) c.1997G>T (p.Gly666Val) c.2483G>T (p.Gly828Val) c.2150G>T (p.Gly717Val) c.2231G>T (p.Gly744Val) c.2249G>T (p.Gly750Val) c.1553G>T (p.Gly518Val) c.1286-203G>T (n.1286-203G>T) c.444G>T n.3281G>T n.1828G>T c.2339G>T (p.Gly780Val) n.212-3886G>T c.2387G>T (p.Gly796Val) c.2447G>T (p.Gly816Val) c.299G>T (p.Gly100Val) c.2069G>T (p.Gly690Val) c.1151G>T (p.Gly384Val) n.2702G>T | gnomAD v4 |
| 13 | g.51950364C>G | CA388016700 | ATP7B | c.*316G>C (n.*316G>C) c.*1227G>C (n.*1227G>C) c.1997G>C (p.Gly666Ala) c.2483G>C (p.Gly828Ala) c.2150G>C (p.Gly717Ala) c.2231G>C (p.Gly744Ala) c.2249G>C (p.Gly750Ala) c.1553G>C (p.Gly518Ala) c.1286-203G>C (n.1286-203G>C) c.444G>C n.3281G>C n.1828G>C c.2339G>C (p.Gly780Ala) n.212-3886G>C c.2387G>C (p.Gly796Ala) c.2447G>C (p.Gly816Ala) c.299G>C (p.Gly100Ala) c.2069G>C (p.Gly690Ala) c.1151G>C (p.Gly384Ala) n.2702G>C | |
| 13 | g.51950364C>T | CA388016715 | ATP7B | c.*316G>A (n.*316G>A) c.*1227G>A (n.*1227G>A) c.1997G>A (p.Gly666Asp) c.2483G>A (p.Gly828Asp) c.2150G>A (p.Gly717Asp) c.2231G>A (p.Gly744Asp) c.2249G>A (p.Gly750Asp) c.1553G>A (p.Gly518Asp) c.1286-203G>A (n.1286-203G>A) c.444G>A n.3281G>A n.1828G>A c.2339G>A (p.Gly780Asp) n.212-3886G>A c.2387G>A (p.Gly796Asp) c.2447G>A (p.Gly816Asp) c.299G>A (p.Gly100Asp) c.2069G>A (p.Gly690Asp) c.1151G>A (p.Gly384Asp) n.2702G>A | |
| 13 | g.51950365C>A | CA388016727 | ATP7B | c.*315G>T (n.*315G>T) c.*1226G>T (n.*1226G>T) c.1996G>T (p.Gly666Cys) c.2482G>T (p.Gly828Cys) c.2149G>T (p.Gly717Cys) c.2230G>T (p.Gly744Cys) c.2248G>T (p.Gly750Cys) c.1552G>T (p.Gly518Cys) c.1286-204G>T (n.1286-204G>T) c.443G>T n.3280G>T n.1827G>T c.2338G>T (p.Gly780Cys) n.212-3887G>T c.2386G>T (p.Gly796Cys) c.2446G>T (p.Gly816Cys) c.298G>T (p.Gly100Cys) c.2068G>T (p.Gly690Cys) c.1150G>T (p.Gly384Cys) n.2701G>T |