| 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.51949710C>A | CA16041667 | ATP7B | c.*650G>T (n.*650G>T) c.*1561G>T (n.*1561G>T) c.2244+297G>T (n.2244+297G>T) c.2817G>T (p.Trp939Cys) c.2484G>T (p.Trp828Cys) c.2565G>T (p.Trp855Cys) c.2583G>T (p.Trp861Cys) c.1800+297G>T (n.1800+297G>T) c.1527G>T (p.Trp509Cys) c.778G>T n.3609+6G>T n.2162G>T c.2673G>T (p.Trp891Cys) n.212-3232G>T c.2721G>T (p.Trp907Cys) c.2781G>T (p.Trp927Cys) c.2331G>T (p.Trp777Cys) c.633G>T (p.Trp211Cys) c.2730+297G>T (n.2730+297G>T) c.2403G>T (p.Trp801Cys) c.1485G>T (p.Trp495Cys) n.3036G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.51949710C= | CA2091541365 | ATP7B | c.*650G= (n.*650G=) c.*1561G= (n.*1561G=) c.2244+297G= (n.2244+297G=) c.2817G= (p.Trp939=) c.2484G= (p.Trp828=) c.2565G= (p.Trp855=) c.2583G= (p.Trp861=) c.1800+297G= (n.1800+297G=) c.1527G= (p.Trp509=) c.778G= n.3609+6G= n.2162G= c.2673G= (p.Trp891=) n.212-3232G= c.2721G= (p.Trp907=) c.2781G= (p.Trp927=) c.2331G= (p.Trp777=) c.633G= (p.Trp211=) c.2730+297G= (n.2730+297G=) c.2403G= (p.Trp801=) c.1485G= (p.Trp495=) n.3036G= | |
| 13 | g.51949710C>G | CA388033509 | ATP7B | c.*650G>C (n.*650G>C) c.*1561G>C (n.*1561G>C) c.2244+297G>C (n.2244+297G>C) c.2817G>C (p.Trp939Cys) c.2484G>C (p.Trp828Cys) c.2565G>C (p.Trp855Cys) c.2583G>C (p.Trp861Cys) c.1800+297G>C (n.1800+297G>C) c.1527G>C (p.Trp509Cys) c.778G>C n.3609+6G>C n.2162G>C c.2673G>C (p.Trp891Cys) n.212-3232G>C c.2721G>C (p.Trp907Cys) c.2781G>C (p.Trp927Cys) c.2331G>C (p.Trp777Cys) c.633G>C (p.Trp211Cys) c.2730+297G>C (n.2730+297G>C) c.2403G>C (p.Trp801Cys) c.1485G>C (p.Trp495Cys) n.3036G>C | ClinVar dbSNP |
| 13 | g.51949710C>T | CA388033512 | ATP7B | c.*650G>A (n.*650G>A) c.*1561G>A (n.*1561G>A) c.2244+297G>A (n.2244+297G>A) c.2817G>A (p.Trp939Ter) c.2484G>A (p.Trp828Ter) c.2565G>A (p.Trp855Ter) c.2583G>A (p.Trp861Ter) c.1800+297G>A (n.1800+297G>A) c.1527G>A (p.Trp509Ter) c.778G>A n.3609+6G>A n.2162G>A c.2673G>A (p.Trp891Ter) n.212-3232G>A c.2721G>A (p.Trp907Ter) c.2781G>A (p.Trp927Ter) c.2331G>A (p.Trp777Ter) c.633G>A (p.Trp211Ter) c.2730+297G>A (n.2730+297G>A) c.2403G>A (p.Trp801Ter) c.1485G>A (p.Trp495Ter) n.3036G>A | |
| 13 | g.51949711C>A | CA388033515 | ATP7B | c.*649G>T (n.*649G>T) c.*1560G>T (n.*1560G>T) c.2244+296G>T (n.2244+296G>T) c.2816G>T (p.Trp939Leu) c.2483G>T (p.Trp828Leu) c.2564G>T (p.Trp855Leu) c.2582G>T (p.Trp861Leu) c.1800+296G>T (n.1800+296G>T) c.1526G>T (p.Trp509Leu) c.777G>T n.3609+5G>T n.2161G>T c.2672G>T (p.Trp891Leu) n.212-3233G>T c.2720G>T (p.Trp907Leu) c.2780G>T (p.Trp927Leu) c.2330G>T (p.Trp777Leu) c.632G>T (p.Trp211Leu) c.2730+296G>T (n.2730+296G>T) c.2402G>T (p.Trp801Leu) c.1484G>T (p.Trp495Leu) n.3035G>T | dbSNP |
| 13 | g.51949711C= | CA2091541371 | ATP7B | c.*649G= (n.*649G=) c.*1560G= (n.*1560G=) c.2244+296G= (n.2244+296G=) c.2816G= (p.Trp939=) c.2483G= (p.Trp828=) c.2564G= (p.Trp855=) c.2582G= (p.Trp861=) c.1800+296G= (n.1800+296G=) c.1526G= (p.Trp509=) c.777G= n.3609+5G= n.2161G= c.2672G= (p.Trp891=) n.212-3233G= c.2720G= (p.Trp907=) c.2780G= (p.Trp927=) c.2330G= (p.Trp777=) c.632G= (p.Trp211=) c.2730+296G= (n.2730+296G=) c.2402G= (p.Trp801=) c.1484G= (p.Trp495=) n.3035G= | |
| 13 | g.51949711C>G | CA388033517 | ATP7B | c.*649G>C (n.*649G>C) c.*1560G>C (n.*1560G>C) c.2244+296G>C (n.2244+296G>C) c.2816G>C (p.Trp939Ser) c.2483G>C (p.Trp828Ser) c.2564G>C (p.Trp855Ser) c.2582G>C (p.Trp861Ser) c.1800+296G>C (n.1800+296G>C) c.1526G>C (p.Trp509Ser) c.777G>C n.3609+5G>C n.2161G>C c.2672G>C (p.Trp891Ser) n.212-3233G>C c.2720G>C (p.Trp907Ser) c.2780G>C (p.Trp927Ser) c.2330G>C (p.Trp777Ser) c.632G>C (p.Trp211Ser) c.2730+296G>C (n.2730+296G>C) c.2402G>C (p.Trp801Ser) c.1484G>C (p.Trp495Ser) n.3035G>C | |
| 13 | g.51949711C>T | CA388033520 | ATP7B | c.*649G>A (n.*649G>A) c.*1560G>A (n.*1560G>A) c.2244+296G>A (n.2244+296G>A) c.2816G>A (p.Trp939Ter) c.2483G>A (p.Trp828Ter) c.2564G>A (p.Trp855Ter) c.2582G>A (p.Trp861Ter) c.1800+296G>A (n.1800+296G>A) c.1526G>A (p.Trp509Ter) c.777G>A n.3609+5G>A n.2161G>A c.2672G>A (p.Trp891Ter) n.212-3233G>A c.2720G>A (p.Trp907Ter) c.2780G>A (p.Trp927Ter) c.2330G>A (p.Trp777Ter) c.632G>A (p.Trp211Ter) c.2730+296G>A (n.2730+296G>A) c.2402G>A (p.Trp801Ter) c.1484G>A (p.Trp495Ter) n.3035G>A | |
| 13 | g.51949711_51949712insT | CA2695218779 | ATP7B | c.*648_*649insA (n.*648_*649insA) c.*1559_*1560insA (n.*1559_*1560insA) c.2244+295_2244+296insA (n.2244+295_2244+296insA) c.2815_2816insA (p.Trp939Ter) c.2482_2483insA (p.Trp828Ter) c.2563_2564insA (p.Trp855Ter) c.2581_2582insA (p.Trp861Ter) c.1800+295_1800+296insA (n.1800+295_1800+296insA) c.1525_1526insA (p.Trp509Ter) c.776_777insA n.3609+4_3609+5insA n.2160_2161insA c.2671_2672insA (p.Trp891Ter) n.212-3234_212-3233insA c.2719_2720insA (p.Trp907Ter) c.2779_2780insA (p.Trp927Ter) c.2329_2330insA (p.Trp777Ter) c.631_632insA (p.Trp211Ter) c.2730+295_2730+296insA (n.2730+295_2730+296insA) c.2401_2402insA (p.Trp801Ter) c.1483_1484insA (p.Trp495Ter) n.3034_3035insA | |
| 13 | g.51949712A>C | CA388033523 | ATP7B | c.*648T>G (n.*648T>G) c.*1559T>G (n.*1559T>G) c.2244+295T>G (n.2244+295T>G) c.2815T>G (p.Trp939Gly) c.2482T>G (p.Trp828Gly) c.2563T>G (p.Trp855Gly) c.2581T>G (p.Trp861Gly) c.1800+295T>G (n.1800+295T>G) c.1525T>G (p.Trp509Gly) c.776T>G n.3609+4T>G n.2160T>G c.2671T>G (p.Trp891Gly) n.212-3234T>G c.2719T>G (p.Trp907Gly) c.2779T>G (p.Trp927Gly) c.2329T>G (p.Trp777Gly) c.631T>G (p.Trp211Gly) c.2730+295T>G (n.2730+295T>G) c.2401T>G (p.Trp801Gly) c.1483T>G (p.Trp495Gly) n.3034T>G | |
| 13 | g.51949712A>G | CA388033525 | ATP7B | c.*648T>C (n.*648T>C) c.*1559T>C (n.*1559T>C) c.2244+295T>C (n.2244+295T>C) c.2815T>C (p.Trp939Arg) c.2482T>C (p.Trp828Arg) c.2563T>C (p.Trp855Arg) c.2581T>C (p.Trp861Arg) c.1800+295T>C (n.1800+295T>C) c.1525T>C (p.Trp509Arg) c.776T>C n.3609+4T>C n.2160T>C c.2671T>C (p.Trp891Arg) n.212-3234T>C c.2719T>C (p.Trp907Arg) c.2779T>C (p.Trp927Arg) c.2329T>C (p.Trp777Arg) c.631T>C (p.Trp211Arg) c.2730+295T>C (n.2730+295T>C) c.2401T>C (p.Trp801Arg) c.1483T>C (p.Trp495Arg) n.3034T>C | gnomAD v4 |
| 13 | g.51949712A>T | CA388033527 | ATP7B | c.*648T>A (n.*648T>A) c.*1559T>A (n.*1559T>A) c.2244+295T>A (n.2244+295T>A) c.2815T>A (p.Trp939Arg) c.2482T>A (p.Trp828Arg) c.2563T>A (p.Trp855Arg) c.2581T>A (p.Trp861Arg) c.1800+295T>A (n.1800+295T>A) c.1525T>A (p.Trp509Arg) c.776T>A n.3609+4T>A n.2160T>A c.2671T>A (p.Trp891Arg) n.212-3234T>A c.2719T>A (p.Trp907Arg) c.2779T>A (p.Trp927Arg) c.2329T>A (p.Trp777Arg) c.631T>A (p.Trp211Arg) c.2730+295T>A (n.2730+295T>A) c.2401T>A (p.Trp801Arg) c.1483T>A (p.Trp495Arg) n.3034T>A | |
| 13 | g.51949713T>A | CA484024490 | ATP7B | c.*647A>T (n.*647A>T) c.*1558A>T (n.*1558A>T) c.2244+294A>T (n.2244+294A>T) c.2814A>T (p.Val938=) c.2481A>T (p.Val827=) c.2562A>T (p.Val854=) c.2580A>T (p.Val860=) c.1800+294A>T (n.1800+294A>T) c.1524A>T (p.Val508=) c.775A>T n.3609+3A>T n.2159A>T c.2670A>T (p.Val890=) n.212-3235A>T c.2718A>T (p.Val906=) c.2778A>T (p.Val926=) c.2328A>T (p.Val776=) c.630A>T (p.Val210=) c.2730+294A>T (n.2730+294A>T) c.2400A>T (p.Val800=) c.1482A>T (p.Val494=) n.3033A>T | |
| 13 | g.51949713T>C | CA484024491 | ATP7B | c.*647A>G (n.*647A>G) c.*1558A>G (n.*1558A>G) c.2244+294A>G (n.2244+294A>G) c.2814A>G (p.Val938=) c.2481A>G (p.Val827=) c.2562A>G (p.Val854=) c.2580A>G (p.Val860=) c.1800+294A>G (n.1800+294A>G) c.1524A>G (p.Val508=) c.775A>G n.3609+3A>G n.2159A>G c.2670A>G (p.Val890=) n.212-3235A>G c.2718A>G (p.Val906=) c.2778A>G (p.Val926=) c.2328A>G (p.Val776=) c.630A>G (p.Val210=) c.2730+294A>G (n.2730+294A>G) c.2400A>G (p.Val800=) c.1482A>G (p.Val494=) n.3033A>G | |
| 13 | g.51949713T>G | CA484024489 | ATP7B | c.*647A>C (n.*647A>C) c.*1558A>C (n.*1558A>C) c.2244+294A>C (n.2244+294A>C) c.2814A>C (p.Val938=) c.2481A>C (p.Val827=) c.2562A>C (p.Val854=) c.2580A>C (p.Val860=) c.1800+294A>C (n.1800+294A>C) c.1524A>C (p.Val508=) c.775A>C n.3609+3A>C n.2159A>C c.2670A>C (p.Val890=) n.212-3235A>C c.2718A>C (p.Val906=) c.2778A>C (p.Val926=) c.2328A>C (p.Val776=) c.630A>C (p.Val210=) c.2730+294A>C (n.2730+294A>C) c.2400A>C (p.Val800=) c.1482A>C (p.Val494=) n.3033A>C | |
| 13 | g.51949714A>C | CA388033530 | ATP7B | c.*646T>G (n.*646T>G) c.*1557T>G (n.*1557T>G) c.2244+293T>G (n.2244+293T>G) c.2813T>G (p.Val938Gly) c.2480T>G (p.Val827Gly) c.2561T>G (p.Val854Gly) c.2579T>G (p.Val860Gly) c.1800+293T>G (n.1800+293T>G) c.1523T>G (p.Val508Gly) c.774T>G n.3609+2T>G n.2158T>G c.2669T>G (p.Val890Gly) n.212-3236T>G c.2717T>G (p.Val906Gly) c.2777T>G (p.Val926Gly) c.2327T>G (p.Val776Gly) c.629T>G (p.Val210Gly) c.2730+293T>G (n.2730+293T>G) c.2399T>G (p.Val800Gly) c.1481T>G (p.Val494Gly) n.3032T>G | |
| 13 | g.51949714A>G | CA388033533 | ATP7B | c.*646T>C (n.*646T>C) c.*1557T>C (n.*1557T>C) c.2244+293T>C (n.2244+293T>C) c.2813T>C (p.Val938Ala) c.2480T>C (p.Val827Ala) c.2561T>C (p.Val854Ala) c.2579T>C (p.Val860Ala) c.1800+293T>C (n.1800+293T>C) c.1523T>C (p.Val508Ala) c.774T>C n.3609+2T>C n.2158T>C c.2669T>C (p.Val890Ala) n.212-3236T>C c.2717T>C (p.Val906Ala) c.2777T>C (p.Val926Ala) c.2327T>C (p.Val776Ala) c.629T>C (p.Val210Ala) c.2730+293T>C (n.2730+293T>C) c.2399T>C (p.Val800Ala) c.1481T>C (p.Val494Ala) n.3032T>C | |
| 13 | g.51949714A>T | CA388033535 | ATP7B | c.*646T>A (n.*646T>A) c.*1557T>A (n.*1557T>A) c.2244+293T>A (n.2244+293T>A) c.2813T>A (p.Val938Glu) c.2480T>A (p.Val827Glu) c.2561T>A (p.Val854Glu) c.2579T>A (p.Val860Glu) c.1800+293T>A (n.1800+293T>A) c.1523T>A (p.Val508Glu) c.774T>A n.3609+2T>A n.2158T>A c.2669T>A (p.Val890Glu) n.212-3236T>A c.2717T>A (p.Val906Glu) c.2777T>A (p.Val926Glu) c.2327T>A (p.Val776Glu) c.629T>A (p.Val210Glu) c.2730+293T>A (n.2730+293T>A) c.2399T>A (p.Val800Glu) c.1481T>A (p.Val494Glu) n.3032T>A | |
| 13 | g.51949715C>A | CA388033537 | ATP7B | c.*645G>T (n.*645G>T) c.*1556G>T (n.*1556G>T) c.2244+292G>T (n.2244+292G>T) c.2812G>T (p.Val938Leu) c.2479G>T (p.Val827Leu) c.2560G>T (p.Val854Leu) c.2578G>T (p.Val860Leu) c.1800+292G>T (n.1800+292G>T) c.1522G>T (p.Val508Leu) c.773G>T n.3609+1G>T n.2157G>T c.2668G>T (p.Val890Leu) n.212-3237G>T c.2716G>T (p.Val906Leu) c.2776G>T (p.Val926Leu) c.2326G>T (p.Val776Leu) c.628G>T (p.Val210Leu) c.2730+292G>T (n.2730+292G>T) c.2398G>T (p.Val800Leu) c.1480G>T (p.Val494Leu) n.3031G>T | |
| 13 | g.51949715C= | CA2091541375 | ATP7B | c.*645G= (n.*645G=) c.*1556G= (n.*1556G=) c.2244+292G= (n.2244+292G=) c.2812G= (p.Val938=) c.2479G= (p.Val827=) c.2560G= (p.Val854=) c.2578G= (p.Val860=) c.1800+292G= (n.1800+292G=) c.1522G= (p.Val508=) c.773G= n.3609+1G= n.2157G= c.2668G= (p.Val890=) n.212-3237G= c.2716G= (p.Val906=) c.2776G= (p.Val926=) c.2326G= (p.Val776=) c.628G= (p.Val210=) c.2730+292G= (n.2730+292G=) c.2398G= (p.Val800=) c.1480G= (p.Val494=) n.3031G= | |
| 13 | g.51949715C>G | CA388033540 | ATP7B | c.*645G>C (n.*645G>C) c.*1556G>C (n.*1556G>C) c.2244+292G>C (n.2244+292G>C) c.2812G>C (p.Val938Leu) c.2479G>C (p.Val827Leu) c.2560G>C (p.Val854Leu) c.2578G>C (p.Val860Leu) c.1800+292G>C (n.1800+292G>C) c.1522G>C (p.Val508Leu) c.773G>C n.3609+1G>C n.2157G>C c.2668G>C (p.Val890Leu) n.212-3237G>C c.2716G>C (p.Val906Leu) c.2776G>C (p.Val926Leu) c.2326G>C (p.Val776Leu) c.628G>C (p.Val210Leu) c.2730+292G>C (n.2730+292G>C) c.2398G>C (p.Val800Leu) c.1480G>C (p.Val494Leu) n.3031G>C | |
| 13 | g.51949715C>T | CA388033542 | ATP7B | c.*645G>A (n.*645G>A) c.*1556G>A (n.*1556G>A) c.2244+292G>A (n.2244+292G>A) c.2812G>A (p.Val938Ile) c.2479G>A (p.Val827Ile) c.2560G>A (p.Val854Ile) c.2578G>A (p.Val860Ile) c.1800+292G>A (n.1800+292G>A) c.1522G>A (p.Val508Ile) c.773G>A n.3609+1G>A n.2157G>A c.2668G>A (p.Val890Ile) n.212-3237G>A c.2716G>A (p.Val906Ile) c.2776G>A (p.Val926Ile) c.2326G>A (p.Val776Ile) c.628G>A (p.Val210Ile) c.2730+292G>A (n.2730+292G>A) c.2398G>A (p.Val800Ile) c.1480G>A (p.Val494Ile) n.3031G>A | dbSNP gnomAD v3 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= |