Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.51944100_51944142del | CA2695218736 | ATP7B | c.*894-1576_*894-1534del (n.*894-1576_*894-1534del) c.*1966_*1987+21del c.2601_2622+21del c.3222_3243+21del c.2889_2910+21del c.2970_2991+21del c.2988_3009+21del n.3361_3382+21del n.3585_3606+21del c.2157_2178+21del c.1932_1953+21del c.3027_3048+21del c.1022-1576_1022-1534del c.*323_*344+21del n.3966_3987+21del n.2567_2588+21del c.3078_3099+21del c.3126_3147+21del c.3186_3207+21del c.2736_2757+21del c.1038_1059+21del c.877-1576_877-1534del (n.877-1576_877-1534del) c.3087_3108+21del c.3061-1576_3061-1534del (n.3061-1576_3061-1534del) c.2808_2829+21del c.2731-1576_2731-1534del (n.2731-1576_2731-1534del) c.1890_1911+21del n.3441_3462+21del | |
13 | g.51944115A= | CA2091563679 | ATP7B | c.*894-1561T= (n.*894-1561T=) c.*1981T= (n.*1981T=) c.2616T= (p.Cys872=) c.3237T= (p.Cys1079=) c.2904T= (p.Cys968=) c.2985T= (p.Cys995=) c.3003T= (p.Cys1001=) n.3376T= n.3600T= c.2172T= (p.Cys724=) c.1947T= (p.Cys649=) c.3042T= (p.Cys1014=) n.457T= c.1022-1561T= c.*338T= (n.*338T=) n.3981T= n.2582T= c.3093T= (p.Cys1031=) c.3141T= (p.Cys1047=) c.3201T= (p.Cys1067=) c.2751T= (p.Cys917=) c.1053T= (p.Cys351=) c.877-1561T= (n.877-1561T=) c.3102T= (p.Cys1034=) c.3061-1561T= (n.3061-1561T=) c.2823T= (p.Cys941=) c.2731-1561T= (n.2731-1561T=) c.1905T= (p.Cys635=) n.3456T= | |
13 | g.51944115A>C | CA388029771 | ATP7B | c.*894-1561T>G (n.*894-1561T>G) c.*1981T>G (n.*1981T>G) c.2616T>G (p.Cys872Trp) c.3237T>G (p.Cys1079Trp) c.2904T>G (p.Cys968Trp) c.2985T>G (p.Cys995Trp) c.3003T>G (p.Cys1001Trp) n.3376T>G n.3600T>G c.2172T>G (p.Cys724Trp) c.1947T>G (p.Cys649Trp) c.3042T>G (p.Cys1014Trp) n.457T>G c.1022-1561T>G c.*338T>G (n.*338T>G) n.3981T>G n.2582T>G c.3093T>G (p.Cys1031Trp) c.3141T>G (p.Cys1047Trp) c.3201T>G (p.Cys1067Trp) c.2751T>G (p.Cys917Trp) c.1053T>G (p.Cys351Trp) c.877-1561T>G (n.877-1561T>G) c.3102T>G (p.Cys1034Trp) c.3061-1561T>G (n.3061-1561T>G) c.2823T>G (p.Cys941Trp) c.2731-1561T>G (n.2731-1561T>G) c.1905T>G (p.Cys635Trp) n.3456T>G | ClinVar dbSNP |
13 | g.51944115A>G | CA483894612 | ATP7B | c.*894-1561T>C (n.*894-1561T>C) c.*1981T>C (n.*1981T>C) c.2616T>C (p.Cys872=) c.3237T>C (p.Cys1079=) c.2904T>C (p.Cys968=) c.2985T>C (p.Cys995=) c.3003T>C (p.Cys1001=) n.3376T>C n.3600T>C c.2172T>C (p.Cys724=) c.1947T>C (p.Cys649=) c.3042T>C (p.Cys1014=) n.457T>C c.1022-1561T>C c.*338T>C (n.*338T>C) n.3981T>C n.2582T>C c.3093T>C (p.Cys1031=) c.3141T>C (p.Cys1047=) c.3201T>C (p.Cys1067=) c.2751T>C (p.Cys917=) c.1053T>C (p.Cys351=) c.877-1561T>C (n.877-1561T>C) c.3102T>C (p.Cys1034=) c.3061-1561T>C (n.3061-1561T>C) c.2823T>C (p.Cys941=) c.2731-1561T>C (n.2731-1561T>C) c.1905T>C (p.Cys635=) n.3456T>C | |
13 | g.51944115A>T | CA388029772 | ATP7B | c.*894-1561T>A (n.*894-1561T>A) c.*1981T>A (n.*1981T>A) c.2616T>A (p.Cys872Ter) c.3237T>A (p.Cys1079Ter) c.2904T>A (p.Cys968Ter) c.2985T>A (p.Cys995Ter) c.3003T>A (p.Cys1001Ter) n.3376T>A n.3600T>A c.2172T>A (p.Cys724Ter) c.1947T>A (p.Cys649Ter) c.3042T>A (p.Cys1014Ter) n.457T>A c.1022-1561T>A c.*338T>A (n.*338T>A) n.3981T>A n.2582T>A c.3093T>A (p.Cys1031Ter) c.3141T>A (p.Cys1047Ter) c.3201T>A (p.Cys1067Ter) c.2751T>A (p.Cys917Ter) c.1053T>A (p.Cys351Ter) c.877-1561T>A (n.877-1561T>A) c.3102T>A (p.Cys1034Ter) c.3061-1561T>A (n.3061-1561T>A) c.2823T>A (p.Cys941Ter) c.2731-1561T>A (n.2731-1561T>A) c.1905T>A (p.Cys635Ter) n.3456T>A | ClinVar dbSNP gnomAD v4 |
13 | g.51944116C>A | CA16621524 | ATP7B | c.*894-1562G>T (n.*894-1562G>T) c.*1980G>T (n.*1980G>T) c.2615G>T (p.Cys872Phe) c.3236G>T (p.Cys1079Phe) c.2903G>T (p.Cys968Phe) c.2984G>T (p.Cys995Phe) c.3002G>T (p.Cys1001Phe) n.3375G>T n.3599G>T c.2171G>T (p.Cys724Phe) c.1946G>T (p.Cys649Phe) c.3041G>T (p.Cys1014Phe) n.456G>T c.1022-1562G>T c.*337G>T (n.*337G>T) n.3980G>T n.2581G>T c.3092G>T (p.Cys1031Phe) c.3140G>T (p.Cys1047Phe) c.3200G>T (p.Cys1067Phe) c.2750G>T (p.Cys917Phe) c.1052G>T (p.Cys351Phe) c.877-1562G>T (n.877-1562G>T) c.3101G>T (p.Cys1034Phe) c.3061-1562G>T (n.3061-1562G>T) c.2822G>T (p.Cys941Phe) c.2731-1562G>T (n.2731-1562G>T) c.1904G>T (p.Cys635Phe) n.3455G>T | ClinVar dbSNP |
13 | g.51944116C= | CA2091563685 | ATP7B | c.*894-1562G= (n.*894-1562G=) c.*1980G= (n.*1980G=) c.2615G= (p.Cys872=) c.3236G= (p.Cys1079=) c.2903G= (p.Cys968=) c.2984G= (p.Cys995=) c.3002G= (p.Cys1001=) n.3375G= n.3599G= c.2171G= (p.Cys724=) c.1946G= (p.Cys649=) c.3041G= (p.Cys1014=) n.456G= c.1022-1562G= c.*337G= (n.*337G=) n.3980G= n.2581G= c.3092G= (p.Cys1031=) c.3140G= (p.Cys1047=) c.3200G= (p.Cys1067=) c.2750G= (p.Cys917=) c.1052G= (p.Cys351=) c.877-1562G= (n.877-1562G=) c.3101G= (p.Cys1034=) c.3061-1562G= (n.3061-1562G=) c.2822G= (p.Cys941=) c.2731-1562G= (n.2731-1562G=) c.1904G= (p.Cys635=) n.3455G= | |
13 | g.51944116C>G | CA388029773 | ATP7B | c.*894-1562G>C (n.*894-1562G>C) c.*1980G>C (n.*1980G>C) c.2615G>C (p.Cys872Ser) c.3236G>C (p.Cys1079Ser) c.2903G>C (p.Cys968Ser) c.2984G>C (p.Cys995Ser) c.3002G>C (p.Cys1001Ser) n.3375G>C n.3599G>C c.2171G>C (p.Cys724Ser) c.1946G>C (p.Cys649Ser) c.3041G>C (p.Cys1014Ser) n.456G>C c.1022-1562G>C c.*337G>C (n.*337G>C) n.3980G>C n.2581G>C c.3092G>C (p.Cys1031Ser) c.3140G>C (p.Cys1047Ser) c.3200G>C (p.Cys1067Ser) c.2750G>C (p.Cys917Ser) c.1052G>C (p.Cys351Ser) c.877-1562G>C (n.877-1562G>C) c.3101G>C (p.Cys1034Ser) c.3061-1562G>C (n.3061-1562G>C) c.2822G>C (p.Cys941Ser) c.2731-1562G>C (n.2731-1562G>C) c.1904G>C (p.Cys635Ser) n.3455G>C | |
13 | g.51944116C>T | CA388029775 | ATP7B | c.*894-1562G>A (n.*894-1562G>A) c.*1980G>A (n.*1980G>A) c.2615G>A (p.Cys872Tyr) c.3236G>A (p.Cys1079Tyr) c.2903G>A (p.Cys968Tyr) c.2984G>A (p.Cys995Tyr) c.3002G>A (p.Cys1001Tyr) n.3375G>A n.3599G>A c.2171G>A (p.Cys724Tyr) c.1946G>A (p.Cys649Tyr) c.3041G>A (p.Cys1014Tyr) n.456G>A c.1022-1562G>A c.*337G>A (n.*337G>A) n.3980G>A n.2581G>A c.3092G>A (p.Cys1031Tyr) c.3140G>A (p.Cys1047Tyr) c.3200G>A (p.Cys1067Tyr) c.2750G>A (p.Cys917Tyr) c.1052G>A (p.Cys351Tyr) c.877-1562G>A (n.877-1562G>A) c.3101G>A (p.Cys1034Tyr) c.3061-1562G>A (n.3061-1562G>A) c.2822G>A (p.Cys941Tyr) c.2731-1562G>A (n.2731-1562G>A) c.1904G>A (p.Cys635Tyr) n.3455G>A | gnomAD v4 |
13 | g.51944116_51944123dup | CA2695218737 | ATP7B | c.*894-1569_*894-1562dup (n.*894-1569_*894-1562dup) c.*1973_*1980dup (n.*1973_*1980dup) c.2608_2615dup (p.Cys872Ter) c.3229_3236dup (p.Cys1079Ter) c.2896_2903dup (p.Cys968Ter) c.2977_2984dup (p.Cys995Ter) c.2995_3002dup (p.Cys1001Ter) n.3368_3375dup n.3592_3599dup c.2164_2171dup (p.Cys724Ter) c.1939_1946dup (p.Cys649Ter) c.3034_3041dup (p.Cys1014Ter) n.449_456dup c.1022-1569_1022-1562dup c.*330_*337dup (n.*330_*337dup) n.3973_3980dup n.2574_2581dup c.3085_3092dup (p.Cys1031Ter) c.3133_3140dup (p.Cys1047Ter) c.3193_3200dup (p.Cys1067Ter) c.2743_2750dup (p.Cys917Ter) c.1045_1052dup (p.Cys351Ter) c.877-1569_877-1562dup (n.877-1569_877-1562dup) c.3094_3101dup (p.Cys1034Ter) c.3061-1569_3061-1562dup (n.3061-1569_3061-1562dup) c.2815_2822dup (p.Cys941Ter) c.2731-1569_2731-1562dup (n.2731-1569_2731-1562dup) c.1897_1904dup (p.Cys635Ter) n.3448_3455dup | |
13 | g.51944117A= | CA2091563694 | ATP7B | c.*894-1563T= (n.*894-1563T=) c.*1979T= (n.*1979T=) c.2614T= (p.Cys872=) c.3235T= (p.Cys1079=) c.2902T= (p.Cys968=) c.2983T= (p.Cys995=) c.3001T= (p.Cys1001=) n.3374T= n.3598T= c.2170T= (p.Cys724=) c.1945T= (p.Cys649=) c.3040T= (p.Cys1014=) n.455T= c.1022-1563T= c.*336T= (n.*336T=) n.3979T= n.2580T= c.3091T= (p.Cys1031=) c.3139T= (p.Cys1047=) c.3199T= (p.Cys1067=) c.2749T= (p.Cys917=) c.1051T= (p.Cys351=) c.877-1563T= (n.877-1563T=) c.3100T= (p.Cys1034=) c.3061-1563T= (n.3061-1563T=) c.2821T= (p.Cys941=) c.2731-1563T= (n.2731-1563T=) c.1903T= (p.Cys635=) n.3454T= | |
13 | g.51944117A>C | CA388029777 | ATP7B | c.*894-1563T>G (n.*894-1563T>G) c.*1979T>G (n.*1979T>G) c.2614T>G (p.Cys872Gly) c.3235T>G (p.Cys1079Gly) c.2902T>G (p.Cys968Gly) c.2983T>G (p.Cys995Gly) c.3001T>G (p.Cys1001Gly) n.3374T>G n.3598T>G c.2170T>G (p.Cys724Gly) c.1945T>G (p.Cys649Gly) c.3040T>G (p.Cys1014Gly) n.455T>G c.1022-1563T>G c.*336T>G (n.*336T>G) n.3979T>G n.2580T>G c.3091T>G (p.Cys1031Gly) c.3139T>G (p.Cys1047Gly) c.3199T>G (p.Cys1067Gly) c.2749T>G (p.Cys917Gly) c.1051T>G (p.Cys351Gly) c.877-1563T>G (n.877-1563T>G) c.3100T>G (p.Cys1034Gly) c.3061-1563T>G (n.3061-1563T>G) c.2821T>G (p.Cys941Gly) c.2731-1563T>G (n.2731-1563T>G) c.1903T>G (p.Cys635Gly) n.3454T>G | |
13 | g.51944117A>G | CA388029778 | ATP7B | c.*894-1563T>C (n.*894-1563T>C) c.*1979T>C (n.*1979T>C) c.2614T>C (p.Cys872Arg) c.3235T>C (p.Cys1079Arg) c.2902T>C (p.Cys968Arg) c.2983T>C (p.Cys995Arg) c.3001T>C (p.Cys1001Arg) n.3374T>C n.3598T>C c.2170T>C (p.Cys724Arg) c.1945T>C (p.Cys649Arg) c.3040T>C (p.Cys1014Arg) n.455T>C c.1022-1563T>C c.*336T>C (n.*336T>C) n.3979T>C n.2580T>C c.3091T>C (p.Cys1031Arg) c.3139T>C (p.Cys1047Arg) c.3199T>C (p.Cys1067Arg) c.2749T>C (p.Cys917Arg) c.1051T>C (p.Cys351Arg) c.877-1563T>C (n.877-1563T>C) c.3100T>C (p.Cys1034Arg) c.3061-1563T>C (n.3061-1563T>C) c.2821T>C (p.Cys941Arg) c.2731-1563T>C (n.2731-1563T>C) c.1903T>C (p.Cys635Arg) n.3454T>C | ClinVar dbSNP gnomAD v4 |
13 | g.51944117A>T | CA388029780 | ATP7B | c.*894-1563T>A (n.*894-1563T>A) c.*1979T>A (n.*1979T>A) c.2614T>A (p.Cys872Ser) c.3235T>A (p.Cys1079Ser) c.2902T>A (p.Cys968Ser) c.2983T>A (p.Cys995Ser) c.3001T>A (p.Cys1001Ser) n.3374T>A n.3598T>A c.2170T>A (p.Cys724Ser) c.1945T>A (p.Cys649Ser) c.3040T>A (p.Cys1014Ser) n.455T>A c.1022-1563T>A c.*336T>A (n.*336T>A) n.3979T>A n.2580T>A c.3091T>A (p.Cys1031Ser) c.3139T>A (p.Cys1047Ser) c.3199T>A (p.Cys1067Ser) c.2749T>A (p.Cys917Ser) c.1051T>A (p.Cys351Ser) c.877-1563T>A (n.877-1563T>A) c.3100T>A (p.Cys1034Ser) c.3061-1563T>A (n.3061-1563T>A) c.2821T>A (p.Cys941Ser) c.2731-1563T>A (n.2731-1563T>A) c.1903T>A (p.Cys635Ser) n.3454T>A | |
13 | g.51944118del | CA2532209008 | ATP7B | c.*894-1564del (n.*894-1564del) c.*1978del (n.*1978del) c.2613del (p.Cys872ValfsTer?) c.3234del (p.Cys1079ValfsTer?) c.2901del (p.Cys968ValfsTer?) c.2982del (p.Cys995ValfsTer?) c.3000del (p.Cys1001ValfsTer?) n.3373del n.3597del c.2169del (p.Cys724ValfsTer?) c.1944del (p.Cys649ValfsTer?) c.3039del (p.Cys1014ValfsTer?) n.454del c.1022-1564del c.*335del (n.*335del) n.3978del n.2579del c.3090del (p.Cys1031ValfsTer?) c.3138del (p.Cys1047ValfsTer?) c.3198del (p.Cys1067ValfsTer?) c.2748del (p.Cys917ValfsTer?) c.1050del (p.Cys351ValfsTer?) c.877-1564del (n.877-1564del) c.3099del (p.Cys1034ValfsTer?) c.3061-1564del (n.3061-1564del) c.2820del (p.Cys941ValfsTer?) c.2731-1564del (n.2731-1564del) c.1902del (p.Cys635ValfsTer?) n.3453del | |
13 | g.51944118G>A | CA483894614 | ATP7B | c.*894-1564C>T (n.*894-1564C>T) c.*1978C>T (n.*1978C>T) c.2613C>T (p.Tyr871=) c.3234C>T (p.Tyr1078=) c.2901C>T (p.Tyr967=) c.2982C>T (p.Tyr994=) c.3000C>T (p.Tyr1000=) n.3373C>T n.3597C>T c.2169C>T (p.Tyr723=) c.1944C>T (p.Tyr648=) c.3039C>T (p.Tyr1013=) n.454C>T c.1022-1564C>T c.*335C>T (n.*335C>T) n.3978C>T n.2579C>T c.3090C>T (p.Tyr1030=) c.3138C>T (p.Tyr1046=) c.3198C>T (p.Tyr1066=) c.2748C>T (p.Tyr916=) c.1050C>T (p.Tyr350=) c.877-1564C>T (n.877-1564C>T) c.3099C>T (p.Tyr1033=) c.3061-1564C>T (n.3061-1564C>T) c.2820C>T (p.Tyr940=) c.2731-1564C>T (n.2731-1564C>T) c.1902C>T (p.Tyr634=) n.3453C>T | gnomAD v4 |
13 | g.51944118G>C | CA388029782 | ATP7B | c.*894-1564C>G (n.*894-1564C>G) c.*1978C>G (n.*1978C>G) c.2613C>G (p.Tyr871Ter) c.3234C>G (p.Tyr1078Ter) c.2901C>G (p.Tyr967Ter) c.2982C>G (p.Tyr994Ter) c.3000C>G (p.Tyr1000Ter) n.3373C>G n.3597C>G c.2169C>G (p.Tyr723Ter) c.1944C>G (p.Tyr648Ter) c.3039C>G (p.Tyr1013Ter) n.454C>G c.1022-1564C>G c.*335C>G (n.*335C>G) n.3978C>G n.2579C>G c.3090C>G (p.Tyr1030Ter) c.3138C>G (p.Tyr1046Ter) c.3198C>G (p.Tyr1066Ter) c.2748C>G (p.Tyr916Ter) c.1050C>G (p.Tyr350Ter) c.877-1564C>G (n.877-1564C>G) c.3099C>G (p.Tyr1033Ter) c.3061-1564C>G (n.3061-1564C>G) c.2820C>G (p.Tyr940Ter) c.2731-1564C>G (n.2731-1564C>G) c.1902C>G (p.Tyr634Ter) n.3453C>G | gnomAD v4 |
13 | g.51944118G>T | CA388029784 | ATP7B | c.*894-1564C>A (n.*894-1564C>A) c.*1978C>A (n.*1978C>A) c.2613C>A (p.Tyr871Ter) c.3234C>A (p.Tyr1078Ter) c.2901C>A (p.Tyr967Ter) c.2982C>A (p.Tyr994Ter) c.3000C>A (p.Tyr1000Ter) n.3373C>A n.3597C>A c.2169C>A (p.Tyr723Ter) c.1944C>A (p.Tyr648Ter) c.3039C>A (p.Tyr1013Ter) n.454C>A c.1022-1564C>A c.*335C>A (n.*335C>A) n.3978C>A n.2579C>A c.3090C>A (p.Tyr1030Ter) c.3138C>A (p.Tyr1046Ter) c.3198C>A (p.Tyr1066Ter) c.2748C>A (p.Tyr916Ter) c.1050C>A (p.Tyr350Ter) c.877-1564C>A (n.877-1564C>A) c.3099C>A (p.Tyr1033Ter) c.3061-1564C>A (n.3061-1564C>A) c.2820C>A (p.Tyr940Ter) c.2731-1564C>A (n.2731-1564C>A) c.1902C>A (p.Tyr634Ter) n.3453C>A | |
13 | g.51944119T>A | CA388029785 | ATP7B | c.*894-1565A>T (n.*894-1565A>T) c.*1977A>T (n.*1977A>T) c.2612A>T (p.Tyr871Phe) c.3233A>T (p.Tyr1078Phe) c.2900A>T (p.Tyr967Phe) c.2981A>T (p.Tyr994Phe) c.2999A>T (p.Tyr1000Phe) n.3372A>T n.3596A>T c.2168A>T (p.Tyr723Phe) c.1943A>T (p.Tyr648Phe) c.3038A>T (p.Tyr1013Phe) n.453A>T c.1022-1565A>T c.*334A>T (n.*334A>T) n.3977A>T n.2578A>T c.3089A>T (p.Tyr1030Phe) c.3137A>T (p.Tyr1046Phe) c.3197A>T (p.Tyr1066Phe) c.2747A>T (p.Tyr916Phe) c.1049A>T (p.Tyr350Phe) c.877-1565A>T (n.877-1565A>T) c.3098A>T (p.Tyr1033Phe) c.3061-1565A>T (n.3061-1565A>T) c.2819A>T (p.Tyr940Phe) c.2731-1565A>T (n.2731-1565A>T) c.1901A>T (p.Tyr634Phe) n.3452A>T | |
13 | g.51944119T>C | CA388029788 | ATP7B | c.*894-1565A>G (n.*894-1565A>G) c.*1977A>G (n.*1977A>G) c.2612A>G (p.Tyr871Cys) c.3233A>G (p.Tyr1078Cys) c.2900A>G (p.Tyr967Cys) c.2981A>G (p.Tyr994Cys) c.2999A>G (p.Tyr1000Cys) n.3372A>G n.3596A>G c.2168A>G (p.Tyr723Cys) c.1943A>G (p.Tyr648Cys) c.3038A>G (p.Tyr1013Cys) n.453A>G c.1022-1565A>G c.*334A>G (n.*334A>G) n.3977A>G n.2578A>G c.3089A>G (p.Tyr1030Cys) c.3137A>G (p.Tyr1046Cys) c.3197A>G (p.Tyr1066Cys) c.2747A>G (p.Tyr916Cys) c.1049A>G (p.Tyr350Cys) c.877-1565A>G (n.877-1565A>G) c.3098A>G (p.Tyr1033Cys) c.3061-1565A>G (n.3061-1565A>G) c.2819A>G (p.Tyr940Cys) c.2731-1565A>G (n.2731-1565A>G) c.1901A>G (p.Tyr634Cys) n.3452A>G | |
13 | g.51944119T>G | CA388029786 | ATP7B | c.*894-1565A>C (n.*894-1565A>C) c.*1977A>C (n.*1977A>C) c.2612A>C (p.Tyr871Ser) c.3233A>C (p.Tyr1078Ser) c.2900A>C (p.Tyr967Ser) c.2981A>C (p.Tyr994Ser) c.2999A>C (p.Tyr1000Ser) n.3372A>C n.3596A>C c.2168A>C (p.Tyr723Ser) c.1943A>C (p.Tyr648Ser) c.3038A>C (p.Tyr1013Ser) n.453A>C c.1022-1565A>C c.*334A>C (n.*334A>C) n.3977A>C n.2578A>C c.3089A>C (p.Tyr1030Ser) c.3137A>C (p.Tyr1046Ser) c.3197A>C (p.Tyr1066Ser) c.2747A>C (p.Tyr916Ser) c.1049A>C (p.Tyr350Ser) c.877-1565A>C (n.877-1565A>C) c.3098A>C (p.Tyr1033Ser) c.3061-1565A>C (n.3061-1565A>C) c.2819A>C (p.Tyr940Ser) c.2731-1565A>C (n.2731-1565A>C) c.1901A>C (p.Tyr634Ser) n.3452A>C | |
13 | g.51944120A>C | CA388029789 | ATP7B | c.*894-1566T>G (n.*894-1566T>G) c.*1976T>G (n.*1976T>G) c.2611T>G (p.Tyr871Asp) c.3232T>G (p.Tyr1078Asp) c.2899T>G (p.Tyr967Asp) c.2980T>G (p.Tyr994Asp) c.2998T>G (p.Tyr1000Asp) n.3371T>G n.3595T>G c.2167T>G (p.Tyr723Asp) c.1942T>G (p.Tyr648Asp) c.3037T>G (p.Tyr1013Asp) n.452T>G c.1022-1566T>G c.*333T>G (n.*333T>G) n.3976T>G n.2577T>G c.3088T>G (p.Tyr1030Asp) c.3136T>G (p.Tyr1046Asp) c.3196T>G (p.Tyr1066Asp) c.2746T>G (p.Tyr916Asp) c.1048T>G (p.Tyr350Asp) c.877-1566T>G (n.877-1566T>G) c.3097T>G (p.Tyr1033Asp) c.3061-1566T>G (n.3061-1566T>G) c.2818T>G (p.Tyr940Asp) c.2731-1566T>G (n.2731-1566T>G) c.1900T>G (p.Tyr634Asp) n.3451T>G | |
13 | g.51944120A>G | CA388029793 | ATP7B | c.*894-1566T>C (n.*894-1566T>C) c.*1976T>C (n.*1976T>C) c.2611T>C (p.Tyr871His) c.3232T>C (p.Tyr1078His) c.2899T>C (p.Tyr967His) c.2980T>C (p.Tyr994His) c.2998T>C (p.Tyr1000His) n.3371T>C n.3595T>C c.2167T>C (p.Tyr723His) c.1942T>C (p.Tyr648His) c.3037T>C (p.Tyr1013His) n.452T>C c.1022-1566T>C c.*333T>C (n.*333T>C) n.3976T>C n.2577T>C c.3088T>C (p.Tyr1030His) c.3136T>C (p.Tyr1046His) c.3196T>C (p.Tyr1066His) c.2746T>C (p.Tyr916His) c.1048T>C (p.Tyr350His) c.877-1566T>C (n.877-1566T>C) c.3097T>C (p.Tyr1033His) c.3061-1566T>C (n.3061-1566T>C) c.2818T>C (p.Tyr940His) c.2731-1566T>C (n.2731-1566T>C) c.1900T>C (p.Tyr634His) n.3451T>C | gnomAD v4 |
13 | g.51944120A>T | CA388029791 | ATP7B | c.*894-1566T>A (n.*894-1566T>A) c.*1976T>A (n.*1976T>A) c.2611T>A (p.Tyr871Asn) c.3232T>A (p.Tyr1078Asn) c.2899T>A (p.Tyr967Asn) c.2980T>A (p.Tyr994Asn) c.2998T>A (p.Tyr1000Asn) n.3371T>A n.3595T>A c.2167T>A (p.Tyr723Asn) c.1942T>A (p.Tyr648Asn) c.3037T>A (p.Tyr1013Asn) n.452T>A c.1022-1566T>A c.*333T>A (n.*333T>A) n.3976T>A n.2577T>A c.3088T>A (p.Tyr1030Asn) c.3136T>A (p.Tyr1046Asn) c.3196T>A (p.Tyr1066Asn) c.2746T>A (p.Tyr916Asn) c.1048T>A (p.Tyr350Asn) c.877-1566T>A (n.877-1566T>A) c.3097T>A (p.Tyr1033Asn) c.3061-1566T>A (n.3061-1566T>A) c.2818T>A (p.Tyr940Asn) c.2731-1566T>A (n.2731-1566T>A) c.1900T>A (p.Tyr634Asn) n.3451T>A | |
13 | g.51944121T>A | CA388029794 | ATP7B | c.*894-1567A>T (n.*894-1567A>T) c.*1975A>T (n.*1975A>T) c.2610A>T (p.Lys870Asn) c.3231A>T (p.Lys1077Asn) c.2898A>T (p.Lys966Asn) c.2979A>T (p.Lys993Asn) c.2997A>T (p.Lys999Asn) n.3370A>T n.3594A>T c.2166A>T (p.Lys722Asn) c.1941A>T (p.Lys647Asn) c.3036A>T (p.Lys1012Asn) n.451A>T c.1022-1567A>T c.*332A>T (n.*332A>T) n.3975A>T n.2576A>T c.3087A>T (p.Lys1029Asn) c.3135A>T (p.Lys1045Asn) c.3195A>T (p.Lys1065Asn) c.2745A>T (p.Lys915Asn) c.1047A>T (p.Lys349Asn) c.877-1567A>T (n.877-1567A>T) c.3096A>T (p.Lys1032Asn) c.3061-1567A>T (n.3061-1567A>T) c.2817A>T (p.Lys939Asn) c.2731-1567A>T (n.2731-1567A>T) c.1899A>T (p.Lys633Asn) n.3450A>T | |
13 | g.51944121T>C | CA483894618 | ATP7B | c.*894-1567A>G (n.*894-1567A>G) c.*1975A>G (n.*1975A>G) c.2610A>G (p.Lys870=) c.3231A>G (p.Lys1077=) c.2898A>G (p.Lys966=) c.2979A>G (p.Lys993=) c.2997A>G (p.Lys999=) n.3370A>G n.3594A>G c.2166A>G (p.Lys722=) c.1941A>G (p.Lys647=) c.3036A>G (p.Lys1012=) n.451A>G c.1022-1567A>G c.*332A>G (n.*332A>G) n.3975A>G n.2576A>G c.3087A>G (p.Lys1029=) c.3135A>G (p.Lys1045=) c.3195A>G (p.Lys1065=) c.2745A>G (p.Lys915=) c.1047A>G (p.Lys349=) c.877-1567A>G (n.877-1567A>G) c.3096A>G (p.Lys1032=) c.3061-1567A>G (n.3061-1567A>G) c.2817A>G (p.Lys939=) c.2731-1567A>G (n.2731-1567A>G) c.1899A>G (p.Lys633=) n.3450A>G | |
13 | g.51944121T>G | CA388029795 | ATP7B | c.*894-1567A>C (n.*894-1567A>C) c.*1975A>C (n.*1975A>C) c.2610A>C (p.Lys870Asn) c.3231A>C (p.Lys1077Asn) c.2898A>C (p.Lys966Asn) c.2979A>C (p.Lys993Asn) c.2997A>C (p.Lys999Asn) n.3370A>C n.3594A>C c.2166A>C (p.Lys722Asn) c.1941A>C (p.Lys647Asn) c.3036A>C (p.Lys1012Asn) n.451A>C c.1022-1567A>C c.*332A>C (n.*332A>C) n.3975A>C n.2576A>C c.3087A>C (p.Lys1029Asn) c.3135A>C (p.Lys1045Asn) c.3195A>C (p.Lys1065Asn) c.2745A>C (p.Lys915Asn) c.1047A>C (p.Lys349Asn) c.877-1567A>C (n.877-1567A>C) c.3096A>C (p.Lys1032Asn) c.3061-1567A>C (n.3061-1567A>C) c.2817A>C (p.Lys939Asn) c.2731-1567A>C (n.2731-1567A>C) c.1899A>C (p.Lys633Asn) n.3450A>C | |
13 | g.51944123del | CA2623116142 | ATP7B | c.*894-1567del (n.*894-1567del) c.*1975del (n.*1975del) c.2610del (p.Lys870AsnfsTer?) c.3231del (p.Lys1077AsnfsTer?) c.2898del (p.Lys966AsnfsTer?) c.2979del (p.Lys993AsnfsTer?) c.2997del (p.Lys999AsnfsTer?) n.3370del n.3594del c.2166del (p.Lys722AsnfsTer?) c.1941del (p.Lys647AsnfsTer?) c.3036del (p.Lys1012AsnfsTer?) n.451del c.1022-1567del c.*332del (n.*332del) n.3975del n.2576del c.3087del (p.Lys1029AsnfsTer?) c.3135del (p.Lys1045AsnfsTer?) c.3195del (p.Lys1065AsnfsTer?) c.2745del (p.Lys915AsnfsTer?) c.1047del (p.Lys349AsnfsTer?) c.877-1567del (n.877-1567del) c.3096del (p.Lys1032AsnfsTer?) c.3061-1567del (n.3061-1567del) c.2817del (p.Lys939AsnfsTer?) c.2731-1567del (n.2731-1567del) c.1899del (p.Lys633AsnfsTer?) n.3450del | gnomAD v4 |
13 | g.51944121_51944125delinsCTTGA | CA2695218738 | ATP7B | c.*894-1571_*894-1567delinsTCAAG (n.*894-1571_*894-1567delinsTCAAG) c.*1971_*1975delinsTCAAG (n.*1971_*1975delinsTCAAG) c.2606_2610delinsTCAAG (p.Thr869Ile) c.3227_3231delinsTCAAG (p.Thr1076Ile) c.2894_2898delinsTCAAG (p.Thr965Ile) c.2975_2979delinsTCAAG (p.Thr992Ile) c.2993_2997delinsTCAAG (p.Thr998Ile) n.3366_3370delinsTCAAG n.3590_3594delinsTCAAG c.2162_2166delinsTCAAG (p.Thr721Ile) c.1937_1941delinsTCAAG (p.Thr646Ile) c.3032_3036delinsTCAAG (p.Thr1011Ile) n.447_451delinsTCAAG c.1022-1571_1022-1567delinsTCAAG c.*328_*332delinsTCAAG (n.*328_*332delinsTCAAG) n.3971_3975delinsTCAAG n.2572_2576delinsTCAAG c.3083_3087delinsTCAAG (p.Thr1028Ile) c.3131_3135delinsTCAAG (p.Thr1044Ile) c.3191_3195delinsTCAAG (p.Thr1064Ile) c.2741_2745delinsTCAAG (p.Thr914Ile) c.1043_1047delinsTCAAG (p.Thr348Ile) c.877-1571_877-1567delinsTCAAG (n.877-1571_877-1567delinsTCAAG) c.3092_3096delinsTCAAG (p.Thr1031Ile) c.3061-1571_3061-1567delinsTCAAG (n.3061-1571_3061-1567delinsTCAAG) c.2813_2817delinsTCAAG (p.Thr938Ile) c.2731-1571_2731-1567delinsTCAAG (n.2731-1571_2731-1567delinsTCAAG) c.1895_1899delinsTCAAG (p.Thr632Ile) n.3446_3450delinsTCAAG | |
13 | g.51944122T>A | CA388029797 | ATP7B | c.*894-1568A>T (n.*894-1568A>T) c.*1974A>T (n.*1974A>T) c.2609A>T (p.Lys870Ile) c.3230A>T (p.Lys1077Ile) c.2897A>T (p.Lys966Ile) c.2978A>T (p.Lys993Ile) c.2996A>T (p.Lys999Ile) n.3369A>T n.3593A>T c.2165A>T (p.Lys722Ile) c.1940A>T (p.Lys647Ile) c.3035A>T (p.Lys1012Ile) n.450A>T c.1022-1568A>T c.*331A>T (n.*331A>T) n.3974A>T n.2575A>T c.3086A>T (p.Lys1029Ile) c.3134A>T (p.Lys1045Ile) c.3194A>T (p.Lys1065Ile) c.2744A>T (p.Lys915Ile) c.1046A>T (p.Lys349Ile) c.877-1568A>T (n.877-1568A>T) c.3095A>T (p.Lys1032Ile) c.3061-1568A>T (n.3061-1568A>T) c.2816A>T (p.Lys939Ile) c.2731-1568A>T (n.2731-1568A>T) c.1898A>T (p.Lys633Ile) n.3449A>T | |
13 | g.51944122T>C | CA388029799 | ATP7B | c.*894-1568A>G (n.*894-1568A>G) c.*1974A>G (n.*1974A>G) c.2609A>G (p.Lys870Arg) c.3230A>G (p.Lys1077Arg) c.2897A>G (p.Lys966Arg) c.2978A>G (p.Lys993Arg) c.2996A>G (p.Lys999Arg) n.3369A>G n.3593A>G c.2165A>G (p.Lys722Arg) c.1940A>G (p.Lys647Arg) c.3035A>G (p.Lys1012Arg) n.450A>G c.1022-1568A>G c.*331A>G (n.*331A>G) n.3974A>G n.2575A>G c.3086A>G (p.Lys1029Arg) c.3134A>G (p.Lys1045Arg) c.3194A>G (p.Lys1065Arg) c.2744A>G (p.Lys915Arg) c.1046A>G (p.Lys349Arg) c.877-1568A>G (n.877-1568A>G) c.3095A>G (p.Lys1032Arg) c.3061-1568A>G (n.3061-1568A>G) c.2816A>G (p.Lys939Arg) c.2731-1568A>G (n.2731-1568A>G) c.1898A>G (p.Lys633Arg) n.3449A>G | gnomAD v4 |
13 | g.51944122T>G | CA388029798 | ATP7B | c.*894-1568A>C (n.*894-1568A>C) c.*1974A>C (n.*1974A>C) c.2609A>C (p.Lys870Thr) c.3230A>C (p.Lys1077Thr) c.2897A>C (p.Lys966Thr) c.2978A>C (p.Lys993Thr) c.2996A>C (p.Lys999Thr) n.3369A>C n.3593A>C c.2165A>C (p.Lys722Thr) c.1940A>C (p.Lys647Thr) c.3035A>C (p.Lys1012Thr) n.450A>C c.1022-1568A>C c.*331A>C (n.*331A>C) n.3974A>C n.2575A>C c.3086A>C (p.Lys1029Thr) c.3134A>C (p.Lys1045Thr) c.3194A>C (p.Lys1065Thr) c.2744A>C (p.Lys915Thr) c.1046A>C (p.Lys349Thr) c.877-1568A>C (n.877-1568A>C) c.3095A>C (p.Lys1032Thr) c.3061-1568A>C (n.3061-1568A>C) c.2816A>C (p.Lys939Thr) c.2731-1568A>C (n.2731-1568A>C) c.1898A>C (p.Lys633Thr) n.3449A>C | |
13 | g.51944123T>A | CA388029800 | ATP7B | c.*894-1569A>T (n.*894-1569A>T) c.*1973A>T (n.*1973A>T) c.2608A>T (p.Lys870Ter) c.3229A>T (p.Lys1077Ter) c.2896A>T (p.Lys966Ter) c.2977A>T (p.Lys993Ter) c.2995A>T (p.Lys999Ter) n.3368A>T n.3592A>T c.2164A>T (p.Lys722Ter) c.1939A>T (p.Lys647Ter) c.3034A>T (p.Lys1012Ter) n.449A>T c.1022-1569A>T c.*330A>T (n.*330A>T) n.3973A>T n.2574A>T c.3085A>T (p.Lys1029Ter) c.3133A>T (p.Lys1045Ter) c.3193A>T (p.Lys1065Ter) c.2743A>T (p.Lys915Ter) c.1045A>T (p.Lys349Ter) c.877-1569A>T (n.877-1569A>T) c.3094A>T (p.Lys1032Ter) c.3061-1569A>T (n.3061-1569A>T) c.2815A>T (p.Lys939Ter) c.2731-1569A>T (n.2731-1569A>T) c.1897A>T (p.Lys633Ter) n.3448A>T | |
13 | g.51944123T>C | CA388029803 | ATP7B | c.*894-1569A>G (n.*894-1569A>G) c.*1973A>G (n.*1973A>G) c.2608A>G (p.Lys870Glu) c.3229A>G (p.Lys1077Glu) c.2896A>G (p.Lys966Glu) c.2977A>G (p.Lys993Glu) c.2995A>G (p.Lys999Glu) n.3368A>G n.3592A>G c.2164A>G (p.Lys722Glu) c.1939A>G (p.Lys647Glu) c.3034A>G (p.Lys1012Glu) n.449A>G c.1022-1569A>G c.*330A>G (n.*330A>G) n.3973A>G n.2574A>G c.3085A>G (p.Lys1029Glu) c.3133A>G (p.Lys1045Glu) c.3193A>G (p.Lys1065Glu) c.2743A>G (p.Lys915Glu) c.1045A>G (p.Lys349Glu) c.877-1569A>G (n.877-1569A>G) c.3094A>G (p.Lys1032Glu) c.3061-1569A>G (n.3061-1569A>G) c.2815A>G (p.Lys939Glu) c.2731-1569A>G (n.2731-1569A>G) c.1897A>G (p.Lys633Glu) n.3448A>G | |
13 | g.51944123T>G | CA388029802 | ATP7B | c.*894-1569A>C (n.*894-1569A>C) c.*1973A>C (n.*1973A>C) c.2608A>C (p.Lys870Gln) c.3229A>C (p.Lys1077Gln) c.2896A>C (p.Lys966Gln) c.2977A>C (p.Lys993Gln) c.2995A>C (p.Lys999Gln) n.3368A>C n.3592A>C c.2164A>C (p.Lys722Gln) c.1939A>C (p.Lys647Gln) c.3034A>C (p.Lys1012Gln) n.449A>C c.1022-1569A>C c.*330A>C (n.*330A>C) n.3973A>C n.2574A>C c.3085A>C (p.Lys1029Gln) c.3133A>C (p.Lys1045Gln) c.3193A>C (p.Lys1065Gln) c.2743A>C (p.Lys915Gln) c.1045A>C (p.Lys349Gln) c.877-1569A>C (n.877-1569A>C) c.3094A>C (p.Lys1032Gln) c.3061-1569A>C (n.3061-1569A>C) c.2815A>C (p.Lys939Gln) c.2731-1569A>C (n.2731-1569A>C) c.1897A>C (p.Lys633Gln) n.3448A>C | |
13 | g.51944124G>A | CA483894620 | ATP7B | c.*894-1570C>T (n.*894-1570C>T) c.*1972C>T (n.*1972C>T) c.2607C>T (p.Thr869=) c.3228C>T (p.Thr1076=) c.2895C>T (p.Thr965=) c.2976C>T (p.Thr992=) c.2994C>T (p.Thr998=) n.3367C>T n.3591C>T c.2163C>T (p.Thr721=) c.1938C>T (p.Thr646=) c.3033C>T (p.Thr1011=) n.448C>T c.1022-1570C>T c.*329C>T (n.*329C>T) n.3972C>T n.2573C>T c.3084C>T (p.Thr1028=) c.3132C>T (p.Thr1044=) c.3192C>T (p.Thr1064=) c.2742C>T (p.Thr914=) c.1044C>T (p.Thr348=) c.877-1570C>T (n.877-1570C>T) c.3093C>T (p.Thr1031=) c.3061-1570C>T (n.3061-1570C>T) c.2814C>T (p.Thr938=) c.2731-1570C>T (n.2731-1570C>T) c.1896C>T (p.Thr632=) n.3447C>T | |
13 | g.51944124G>C | CA483894621 | ATP7B | c.*894-1570C>G (n.*894-1570C>G) c.*1972C>G (n.*1972C>G) c.2607C>G (p.Thr869=) c.3228C>G (p.Thr1076=) c.2895C>G (p.Thr965=) c.2976C>G (p.Thr992=) c.2994C>G (p.Thr998=) n.3367C>G n.3591C>G c.2163C>G (p.Thr721=) c.1938C>G (p.Thr646=) c.3033C>G (p.Thr1011=) n.448C>G c.1022-1570C>G c.*329C>G (n.*329C>G) n.3972C>G n.2573C>G c.3084C>G (p.Thr1028=) c.3132C>G (p.Thr1044=) c.3192C>G (p.Thr1064=) c.2742C>G (p.Thr914=) c.1044C>G (p.Thr348=) c.877-1570C>G (n.877-1570C>G) c.3093C>G (p.Thr1031=) c.3061-1570C>G (n.3061-1570C>G) c.2814C>G (p.Thr938=) c.2731-1570C>G (n.2731-1570C>G) c.1896C>G (p.Thr632=) n.3447C>G | |
13 | g.51944124G>T | CA483894622 | ATP7B | c.*894-1570C>A (n.*894-1570C>A) c.*1972C>A (n.*1972C>A) c.2607C>A (p.Thr869=) c.3228C>A (p.Thr1076=) c.2895C>A (p.Thr965=) c.2976C>A (p.Thr992=) c.2994C>A (p.Thr998=) n.3367C>A n.3591C>A c.2163C>A (p.Thr721=) c.1938C>A (p.Thr646=) c.3033C>A (p.Thr1011=) n.448C>A c.1022-1570C>A c.*329C>A (n.*329C>A) n.3972C>A n.2573C>A c.3084C>A (p.Thr1028=) c.3132C>A (p.Thr1044=) c.3192C>A (p.Thr1064=) c.2742C>A (p.Thr914=) c.1044C>A (p.Thr348=) c.877-1570C>A (n.877-1570C>A) c.3093C>A (p.Thr1031=) c.3061-1570C>A (n.3061-1570C>A) c.2814C>A (p.Thr938=) c.2731-1570C>A (n.2731-1570C>A) c.1896C>A (p.Thr632=) n.3447C>A | |
13 | g.51944125G>A | CA388029805 | ATP7B | c.*894-1571C>T (n.*894-1571C>T) c.*1971C>T (n.*1971C>T) c.2606C>T (p.Thr869Ile) c.3227C>T (p.Thr1076Ile) c.2894C>T (p.Thr965Ile) c.2975C>T (p.Thr992Ile) c.2993C>T (p.Thr998Ile) n.3366C>T n.3590C>T c.2162C>T (p.Thr721Ile) c.1937C>T (p.Thr646Ile) c.3032C>T (p.Thr1011Ile) n.447C>T c.1022-1571C>T c.*328C>T (n.*328C>T) n.3971C>T n.2572C>T c.3083C>T (p.Thr1028Ile) c.3131C>T (p.Thr1044Ile) c.3191C>T (p.Thr1064Ile) c.2741C>T (p.Thr914Ile) c.1043C>T (p.Thr348Ile) c.877-1571C>T (n.877-1571C>T) c.3092C>T (p.Thr1031Ile) c.3061-1571C>T (n.3061-1571C>T) c.2813C>T (p.Thr938Ile) c.2731-1571C>T (n.2731-1571C>T) c.1895C>T (p.Thr632Ile) n.3446C>T | ClinVar |
13 | g.51944125G>C | CA388029806 | ATP7B | c.*894-1571C>G (n.*894-1571C>G) c.*1971C>G (n.*1971C>G) c.2606C>G (p.Thr869Ser) c.3227C>G (p.Thr1076Ser) c.2894C>G (p.Thr965Ser) c.2975C>G (p.Thr992Ser) c.2993C>G (p.Thr998Ser) n.3366C>G n.3590C>G c.2162C>G (p.Thr721Ser) c.1937C>G (p.Thr646Ser) c.3032C>G (p.Thr1011Ser) n.447C>G c.1022-1571C>G c.*328C>G (n.*328C>G) n.3971C>G n.2572C>G c.3083C>G (p.Thr1028Ser) c.3131C>G (p.Thr1044Ser) c.3191C>G (p.Thr1064Ser) c.2741C>G (p.Thr914Ser) c.1043C>G (p.Thr348Ser) c.877-1571C>G (n.877-1571C>G) c.3092C>G (p.Thr1031Ser) c.3061-1571C>G (n.3061-1571C>G) c.2813C>G (p.Thr938Ser) c.2731-1571C>G (n.2731-1571C>G) c.1895C>G (p.Thr632Ser) n.3446C>G | |
13 | g.51944125G>T | CA388029808 | ATP7B | c.*894-1571C>A (n.*894-1571C>A) c.*1971C>A (n.*1971C>A) c.2606C>A (p.Thr869Asn) c.3227C>A (p.Thr1076Asn) c.2894C>A (p.Thr965Asn) c.2975C>A (p.Thr992Asn) c.2993C>A (p.Thr998Asn) n.3366C>A n.3590C>A c.2162C>A (p.Thr721Asn) c.1937C>A (p.Thr646Asn) c.3032C>A (p.Thr1011Asn) n.447C>A c.1022-1571C>A c.*328C>A (n.*328C>A) n.3971C>A n.2572C>A c.3083C>A (p.Thr1028Asn) c.3131C>A (p.Thr1044Asn) c.3191C>A (p.Thr1064Asn) c.2741C>A (p.Thr914Asn) c.1043C>A (p.Thr348Asn) c.877-1571C>A (n.877-1571C>A) c.3092C>A (p.Thr1031Asn) c.3061-1571C>A (n.3061-1571C>A) c.2813C>A (p.Thr938Asn) c.2731-1571C>A (n.2731-1571C>A) c.1895C>A (p.Thr632Asn) n.3446C>A | |
13 | g.51944126T>A | CA388029809 | ATP7B | c.*894-1572A>T (n.*894-1572A>T) c.*1970A>T (n.*1970A>T) c.2605A>T (p.Thr869Ser) c.3226A>T (p.Thr1076Ser) c.2893A>T (p.Thr965Ser) c.2974A>T (p.Thr992Ser) c.2992A>T (p.Thr998Ser) n.3365A>T n.3589A>T c.2161A>T (p.Thr721Ser) c.1936A>T (p.Thr646Ser) c.3031A>T (p.Thr1011Ser) n.446A>T c.1022-1572A>T c.*327A>T (n.*327A>T) n.3970A>T n.2571A>T c.3082A>T (p.Thr1028Ser) c.3130A>T (p.Thr1044Ser) c.3190A>T (p.Thr1064Ser) c.2740A>T (p.Thr914Ser) c.1042A>T (p.Thr348Ser) c.877-1572A>T (n.877-1572A>T) c.3091A>T (p.Thr1031Ser) c.3061-1572A>T (n.3061-1572A>T) c.2812A>T (p.Thr938Ser) c.2731-1572A>T (n.2731-1572A>T) c.1894A>T (p.Thr632Ser) n.3445A>T | |
13 | g.51944126T>C | CA388029811 | ATP7B | c.*894-1572A>G (n.*894-1572A>G) c.*1970A>G (n.*1970A>G) c.2605A>G (p.Thr869Ala) c.3226A>G (p.Thr1076Ala) c.2893A>G (p.Thr965Ala) c.2974A>G (p.Thr992Ala) c.2992A>G (p.Thr998Ala) n.3365A>G n.3589A>G c.2161A>G (p.Thr721Ala) c.1936A>G (p.Thr646Ala) c.3031A>G (p.Thr1011Ala) n.446A>G c.1022-1572A>G c.*327A>G (n.*327A>G) n.3970A>G n.2571A>G c.3082A>G (p.Thr1028Ala) c.3130A>G (p.Thr1044Ala) c.3190A>G (p.Thr1064Ala) c.2740A>G (p.Thr914Ala) c.1042A>G (p.Thr348Ala) c.877-1572A>G (n.877-1572A>G) c.3091A>G (p.Thr1031Ala) c.3061-1572A>G (n.3061-1572A>G) c.2812A>G (p.Thr938Ala) c.2731-1572A>G (n.2731-1572A>G) c.1894A>G (p.Thr632Ala) n.3445A>G | ClinVar |
13 | g.51944126T>G | CA388029812 | ATP7B | c.*894-1572A>C (n.*894-1572A>C) c.*1970A>C (n.*1970A>C) c.2605A>C (p.Thr869Pro) c.3226A>C (p.Thr1076Pro) c.2893A>C (p.Thr965Pro) c.2974A>C (p.Thr992Pro) c.2992A>C (p.Thr998Pro) n.3365A>C n.3589A>C c.2161A>C (p.Thr721Pro) c.1936A>C (p.Thr646Pro) c.3031A>C (p.Thr1011Pro) n.446A>C c.1022-1572A>C c.*327A>C (n.*327A>C) n.3970A>C n.2571A>C c.3082A>C (p.Thr1028Pro) c.3130A>C (p.Thr1044Pro) c.3190A>C (p.Thr1064Pro) c.2740A>C (p.Thr914Pro) c.1042A>C (p.Thr348Pro) c.877-1572A>C (n.877-1572A>C) c.3091A>C (p.Thr1031Pro) c.3061-1572A>C (n.3061-1572A>C) c.2812A>C (p.Thr938Pro) c.2731-1572A>C (n.2731-1572A>C) c.1894A>C (p.Thr632Pro) n.3445A>C | |
13 | g.51944127G>A | CA483894624 | ATP7B | c.*894-1573C>T (n.*894-1573C>T) c.*1969C>T (n.*1969C>T) c.2604C>T (p.Val868=) c.3225C>T (p.Val1075=) c.2892C>T (p.Val964=) c.2973C>T (p.Val991=) c.2991C>T (p.Val997=) n.3364C>T n.3588C>T c.2160C>T (p.Val720=) c.1935C>T (p.Val645=) c.3030C>T (p.Val1010=) n.445C>T c.1022-1573C>T c.*326C>T (n.*326C>T) n.3969C>T n.2570C>T c.3081C>T (p.Val1027=) c.3129C>T (p.Val1043=) c.3189C>T (p.Val1063=) c.2739C>T (p.Val913=) c.1041C>T (p.Val347=) c.877-1573C>T (n.877-1573C>T) c.3090C>T (p.Val1030=) c.3061-1573C>T (n.3061-1573C>T) c.2811C>T (p.Val937=) c.2731-1573C>T (n.2731-1573C>T) c.1893C>T (p.Val631=) n.3444C>T | ClinVar gnomAD v4 |
13 | g.51944127G>C | CA483894625 | ATP7B | c.*894-1573C>G (n.*894-1573C>G) c.*1969C>G (n.*1969C>G) c.2604C>G (p.Val868=) c.3225C>G (p.Val1075=) c.2892C>G (p.Val964=) c.2973C>G (p.Val991=) c.2991C>G (p.Val997=) n.3364C>G n.3588C>G c.2160C>G (p.Val720=) c.1935C>G (p.Val645=) c.3030C>G (p.Val1010=) n.445C>G c.1022-1573C>G c.*326C>G (n.*326C>G) n.3969C>G n.2570C>G c.3081C>G (p.Val1027=) c.3129C>G (p.Val1043=) c.3189C>G (p.Val1063=) c.2739C>G (p.Val913=) c.1041C>G (p.Val347=) c.877-1573C>G (n.877-1573C>G) c.3090C>G (p.Val1030=) c.3061-1573C>G (n.3061-1573C>G) c.2811C>G (p.Val937=) c.2731-1573C>G (n.2731-1573C>G) c.1893C>G (p.Val631=) n.3444C>G | |
13 | g.51944127G>T | CA483894626 | ATP7B | c.*894-1573C>A (n.*894-1573C>A) c.*1969C>A (n.*1969C>A) c.2604C>A (p.Val868=) c.3225C>A (p.Val1075=) c.2892C>A (p.Val964=) c.2973C>A (p.Val991=) c.2991C>A (p.Val997=) n.3364C>A n.3588C>A c.2160C>A (p.Val720=) c.1935C>A (p.Val645=) c.3030C>A (p.Val1010=) n.445C>A c.1022-1573C>A c.*326C>A (n.*326C>A) n.3969C>A n.2570C>A c.3081C>A (p.Val1027=) c.3129C>A (p.Val1043=) c.3189C>A (p.Val1063=) c.2739C>A (p.Val913=) c.1041C>A (p.Val347=) c.877-1573C>A (n.877-1573C>A) c.3090C>A (p.Val1030=) c.3061-1573C>A (n.3061-1573C>A) c.2811C>A (p.Val937=) c.2731-1573C>A (n.2731-1573C>A) c.1893C>A (p.Val631=) n.3444C>A | |
13 | g.51944128A>C | CA388029813 | ATP7B | c.*894-1574T>G (n.*894-1574T>G) c.*1968T>G (n.*1968T>G) c.2603T>G (p.Val868Gly) c.3224T>G (p.Val1075Gly) c.2891T>G (p.Val964Gly) c.2972T>G (p.Val991Gly) c.2990T>G (p.Val997Gly) n.3363T>G n.3587T>G c.2159T>G (p.Val720Gly) c.1934T>G (p.Val645Gly) c.3029T>G (p.Val1010Gly) n.444T>G c.1022-1574T>G c.*325T>G (n.*325T>G) n.3968T>G n.2569T>G c.3080T>G (p.Val1027Gly) c.3128T>G (p.Val1043Gly) c.3188T>G (p.Val1063Gly) c.2738T>G (p.Val913Gly) c.1040T>G (p.Val347Gly) c.877-1574T>G (n.877-1574T>G) c.3089T>G (p.Val1030Gly) c.3061-1574T>G (n.3061-1574T>G) c.2810T>G (p.Val937Gly) c.2731-1574T>G (n.2731-1574T>G) c.1892T>G (p.Val631Gly) n.3443T>G | |
13 | g.51944128A>G | CA388029815 | ATP7B | c.*894-1574T>C (n.*894-1574T>C) c.*1968T>C (n.*1968T>C) c.2603T>C (p.Val868Ala) c.3224T>C (p.Val1075Ala) c.2891T>C (p.Val964Ala) c.2972T>C (p.Val991Ala) c.2990T>C (p.Val997Ala) n.3363T>C n.3587T>C c.2159T>C (p.Val720Ala) c.1934T>C (p.Val645Ala) c.3029T>C (p.Val1010Ala) n.444T>C c.1022-1574T>C c.*325T>C (n.*325T>C) n.3968T>C n.2569T>C c.3080T>C (p.Val1027Ala) c.3128T>C (p.Val1043Ala) c.3188T>C (p.Val1063Ala) c.2738T>C (p.Val913Ala) c.1040T>C (p.Val347Ala) c.877-1574T>C (n.877-1574T>C) c.3089T>C (p.Val1030Ala) c.3061-1574T>C (n.3061-1574T>C) c.2810T>C (p.Val937Ala) c.2731-1574T>C (n.2731-1574T>C) c.1892T>C (p.Val631Ala) n.3443T>C | |
13 | g.51944128A>T | CA388029817 | ATP7B | c.*894-1574T>A (n.*894-1574T>A) c.*1968T>A (n.*1968T>A) c.2603T>A (p.Val868Asp) c.3224T>A (p.Val1075Asp) c.2891T>A (p.Val964Asp) c.2972T>A (p.Val991Asp) c.2990T>A (p.Val997Asp) n.3363T>A n.3587T>A c.2159T>A (p.Val720Asp) c.1934T>A (p.Val645Asp) c.3029T>A (p.Val1010Asp) n.444T>A c.1022-1574T>A c.*325T>A (n.*325T>A) n.3968T>A n.2569T>A c.3080T>A (p.Val1027Asp) c.3128T>A (p.Val1043Asp) c.3188T>A (p.Val1063Asp) c.2738T>A (p.Val913Asp) c.1040T>A (p.Val347Asp) c.877-1574T>A (n.877-1574T>A) c.3089T>A (p.Val1030Asp) c.3061-1574T>A (n.3061-1574T>A) c.2810T>A (p.Val937Asp) c.2731-1574T>A (n.2731-1574T>A) c.1892T>A (p.Val631Asp) n.3443T>A | |
13 | g.51944129C>A | CA388029818 | ATP7B | c.*894-1575G>T (n.*894-1575G>T) c.*1967G>T (n.*1967G>T) c.2602G>T (p.Val868Phe) c.3223G>T (p.Val1075Phe) c.2890G>T (p.Val964Phe) c.2971G>T (p.Val991Phe) c.2989G>T (p.Val997Phe) n.3362G>T n.3586G>T c.2158G>T (p.Val720Phe) c.1933G>T (p.Val645Phe) c.3028G>T (p.Val1010Phe) n.443G>T c.1022-1575G>T c.*324G>T (n.*324G>T) n.3967G>T n.2568G>T c.3079G>T (p.Val1027Phe) c.3127G>T (p.Val1043Phe) c.3187G>T (p.Val1063Phe) c.2737G>T (p.Val913Phe) c.1039G>T (p.Val347Phe) c.877-1575G>T (n.877-1575G>T) c.3088G>T (p.Val1030Phe) c.3061-1575G>T (n.3061-1575G>T) c.2809G>T (p.Val937Phe) c.2731-1575G>T (n.2731-1575G>T) c.1891G>T (p.Val631Phe) n.3442G>T | gnomAD v4 |
13 | g.51944129C>G | CA388029820 | ATP7B | c.*894-1575G>C (n.*894-1575G>C) c.*1967G>C (n.*1967G>C) c.2602G>C (p.Val868Leu) c.3223G>C (p.Val1075Leu) c.2890G>C (p.Val964Leu) c.2971G>C (p.Val991Leu) c.2989G>C (p.Val997Leu) n.3362G>C n.3586G>C c.2158G>C (p.Val720Leu) c.1933G>C (p.Val645Leu) c.3028G>C (p.Val1010Leu) n.443G>C c.1022-1575G>C c.*324G>C (n.*324G>C) n.3967G>C n.2568G>C c.3079G>C (p.Val1027Leu) c.3127G>C (p.Val1043Leu) c.3187G>C (p.Val1063Leu) c.2737G>C (p.Val913Leu) c.1039G>C (p.Val347Leu) c.877-1575G>C (n.877-1575G>C) c.3088G>C (p.Val1030Leu) c.3061-1575G>C (n.3061-1575G>C) c.2809G>C (p.Val937Leu) c.2731-1575G>C (n.2731-1575G>C) c.1891G>C (p.Val631Leu) n.3442G>C | |
13 | g.51944129C>T | CA388029821 | ATP7B | c.*894-1575G>A (n.*894-1575G>A) c.*1967G>A (n.*1967G>A) c.2602G>A (p.Val868Ile) c.3223G>A (p.Val1075Ile) c.2890G>A (p.Val964Ile) c.2971G>A (p.Val991Ile) c.2989G>A (p.Val997Ile) n.3362G>A n.3586G>A c.2158G>A (p.Val720Ile) c.1933G>A (p.Val645Ile) c.3028G>A (p.Val1010Ile) n.443G>A c.1022-1575G>A c.*324G>A (n.*324G>A) n.3967G>A n.2568G>A c.3079G>A (p.Val1027Ile) c.3127G>A (p.Val1043Ile) c.3187G>A (p.Val1063Ile) c.2737G>A (p.Val913Ile) c.1039G>A (p.Val347Ile) c.877-1575G>A (n.877-1575G>A) c.3088G>A (p.Val1030Ile) c.3061-1575G>A (n.3061-1575G>A) c.2809G>A (p.Val937Ile) c.2731-1575G>A (n.2731-1575G>A) c.1891G>A (p.Val631Ile) n.3442G>A | gnomAD v4 |
13 | g.51944130T>A | CA483894630 | ATP7B | c.*894-1576A>T (n.*894-1576A>T) c.*1966A>T (n.*1966A>T) c.2601A>T (p.Ala867=) c.3222A>T (p.Ala1074=) c.2889A>T (p.Ala963=) c.2970A>T (p.Ala990=) c.2988A>T (p.Ala996=) n.3361A>T n.3585A>T c.2157A>T (p.Ala719=) c.1932A>T (p.Ala644=) c.3027A>T (p.Ala1009=) n.442A>T c.1022-1576A>T c.*323A>T (n.*323A>T) n.3966A>T n.2567A>T c.3078A>T (p.Ala1026=) c.3126A>T (p.Ala1042=) c.3186A>T (p.Ala1062=) c.2736A>T (p.Ala912=) c.1038A>T (p.Ala346=) c.877-1576A>T (n.877-1576A>T) c.3087A>T (p.Ala1029=) c.3061-1576A>T (n.3061-1576A>T) c.2808A>T (p.Ala936=) c.2731-1576A>T (n.2731-1576A>T) c.1890A>T (p.Ala630=) n.3441A>T | |
13 | g.51944130T>C | CA483894631 | ATP7B | c.*894-1576A>G (n.*894-1576A>G) c.*1966A>G (n.*1966A>G) c.2601A>G (p.Ala867=) c.3222A>G (p.Ala1074=) c.2889A>G (p.Ala963=) c.2970A>G (p.Ala990=) c.2988A>G (p.Ala996=) n.3361A>G n.3585A>G c.2157A>G (p.Ala719=) c.1932A>G (p.Ala644=) c.3027A>G (p.Ala1009=) n.442A>G c.1022-1576A>G c.*323A>G (n.*323A>G) n.3966A>G n.2567A>G c.3078A>G (p.Ala1026=) c.3126A>G (p.Ala1042=) c.3186A>G (p.Ala1062=) c.2736A>G (p.Ala912=) c.1038A>G (p.Ala346=) c.877-1576A>G (n.877-1576A>G) c.3087A>G (p.Ala1029=) c.3061-1576A>G (n.3061-1576A>G) c.2808A>G (p.Ala936=) c.2731-1576A>G (n.2731-1576A>G) c.1890A>G (p.Ala630=) n.3441A>G | |
13 | g.51944130T>G | CA483894632 | ATP7B | c.*894-1576A>C (n.*894-1576A>C) c.*1966A>C (n.*1966A>C) c.2601A>C (p.Ala867=) c.3222A>C (p.Ala1074=) c.2889A>C (p.Ala963=) c.2970A>C (p.Ala990=) c.2988A>C (p.Ala996=) n.3361A>C n.3585A>C c.2157A>C (p.Ala719=) c.1932A>C (p.Ala644=) c.3027A>C (p.Ala1009=) n.442A>C c.1022-1576A>C c.*323A>C (n.*323A>C) n.3966A>C n.2567A>C c.3078A>C (p.Ala1026=) c.3126A>C (p.Ala1042=) c.3186A>C (p.Ala1062=) c.2736A>C (p.Ala912=) c.1038A>C (p.Ala346=) c.877-1576A>C (n.877-1576A>C) c.3087A>C (p.Ala1029=) c.3061-1576A>C (n.3061-1576A>C) c.2808A>C (p.Ala936=) c.2731-1576A>C (n.2731-1576A>C) c.1890A>C (p.Ala630=) n.3441A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944130T= | CA2091563701 | ATP7B | c.*894-1576A= (n.*894-1576A=) c.*1966A= (n.*1966A=) c.2601A= (p.Ala867=) c.3222A= (p.Ala1074=) c.2889A= (p.Ala963=) c.2970A= (p.Ala990=) c.2988A= (p.Ala996=) n.3361A= n.3585A= c.2157A= (p.Ala719=) c.1932A= (p.Ala644=) c.3027A= (p.Ala1009=) n.442A= c.1022-1576A= c.*323A= (n.*323A=) n.3966A= n.2567A= c.3078A= (p.Ala1026=) c.3126A= (p.Ala1042=) c.3186A= (p.Ala1062=) c.2736A= (p.Ala912=) c.1038A= (p.Ala346=) c.877-1576A= (n.877-1576A=) c.3087A= (p.Ala1029=) c.3061-1576A= (n.3061-1576A=) c.2808A= (p.Ala936=) c.2731-1576A= (n.2731-1576A=) c.1890A= (p.Ala630=) n.3441A= | |
13 | g.51944131G>A | CA388029823 | ATP7B | c.*894-1577C>T (n.*894-1577C>T) c.*1965C>T (n.*1965C>T) c.2600C>T (p.Ala867Val) c.3221C>T (p.Ala1074Val) c.2888C>T (p.Ala963Val) c.2969C>T (p.Ala990Val) c.2987C>T (p.Ala996Val) n.3360C>T n.3584C>T c.2156C>T (p.Ala719Val) c.1931C>T (p.Ala644Val) c.3026C>T (p.Ala1009Val) n.441C>T c.1022-1577C>T c.*322C>T (n.*322C>T) n.3965C>T n.2566C>T c.3077C>T (p.Ala1026Val) c.3125C>T (p.Ala1042Val) c.3185C>T (p.Ala1062Val) c.2735C>T (p.Ala912Val) c.1037C>T (p.Ala346Val) c.877-1577C>T (n.877-1577C>T) c.3086C>T (p.Ala1029Val) c.3061-1577C>T (n.3061-1577C>T) c.2807C>T (p.Ala936Val) c.2731-1577C>T (n.2731-1577C>T) c.1889C>T (p.Ala630Val) n.3440C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944131G>C | CA388029827 | ATP7B | c.*894-1577C>G (n.*894-1577C>G) c.*1965C>G (n.*1965C>G) c.2600C>G (p.Ala867Gly) c.3221C>G (p.Ala1074Gly) c.2888C>G (p.Ala963Gly) c.2969C>G (p.Ala990Gly) c.2987C>G (p.Ala996Gly) n.3360C>G n.3584C>G c.2156C>G (p.Ala719Gly) c.1931C>G (p.Ala644Gly) c.3026C>G (p.Ala1009Gly) n.441C>G c.1022-1577C>G c.*322C>G (n.*322C>G) n.3965C>G n.2566C>G c.3077C>G (p.Ala1026Gly) c.3125C>G (p.Ala1042Gly) c.3185C>G (p.Ala1062Gly) c.2735C>G (p.Ala912Gly) c.1037C>G (p.Ala346Gly) c.877-1577C>G (n.877-1577C>G) c.3086C>G (p.Ala1029Gly) c.3061-1577C>G (n.3061-1577C>G) c.2807C>G (p.Ala936Gly) c.2731-1577C>G (n.2731-1577C>G) c.1889C>G (p.Ala630Gly) n.3440C>G | |
13 | g.51944131G= | CA2091563708 | ATP7B | c.*894-1577C= (n.*894-1577C=) c.*1965C= (n.*1965C=) c.2600C= (p.Ala867=) c.3221C= (p.Ala1074=) c.2888C= (p.Ala963=) c.2969C= (p.Ala990=) c.2987C= (p.Ala996=) n.3360C= n.3584C= c.2156C= (p.Ala719=) c.1931C= (p.Ala644=) c.3026C= (p.Ala1009=) n.441C= c.1022-1577C= c.*322C= (n.*322C=) n.3965C= n.2566C= c.3077C= (p.Ala1026=) c.3125C= (p.Ala1042=) c.3185C= (p.Ala1062=) c.2735C= (p.Ala912=) c.1037C= (p.Ala346=) c.877-1577C= (n.877-1577C=) c.3086C= (p.Ala1029=) c.3061-1577C= (n.3061-1577C=) c.2807C= (p.Ala936=) c.2731-1577C= (n.2731-1577C=) c.1889C= (p.Ala630=) n.3440C= | |
13 | g.51944131G>T | CA388029826 | ATP7B | c.*894-1577C>A (n.*894-1577C>A) c.*1965C>A (n.*1965C>A) c.2600C>A (p.Ala867Glu) c.3221C>A (p.Ala1074Glu) c.2888C>A (p.Ala963Glu) c.2969C>A (p.Ala990Glu) c.2987C>A (p.Ala996Glu) n.3360C>A n.3584C>A c.2156C>A (p.Ala719Glu) c.1931C>A (p.Ala644Glu) c.3026C>A (p.Ala1009Glu) n.441C>A c.1022-1577C>A c.*322C>A (n.*322C>A) n.3965C>A n.2566C>A c.3077C>A (p.Ala1026Glu) c.3125C>A (p.Ala1042Glu) c.3185C>A (p.Ala1062Glu) c.2735C>A (p.Ala912Glu) c.1037C>A (p.Ala346Glu) c.877-1577C>A (n.877-1577C>A) c.3086C>A (p.Ala1029Glu) c.3061-1577C>A (n.3061-1577C>A) c.2807C>A (p.Ala936Glu) c.2731-1577C>A (n.2731-1577C>A) c.1889C>A (p.Ala630Glu) n.3440C>A | COSMIC |
13 | g.51944132C>A | CA388029829 | ATP7B | c.*894-1578G>T (n.*894-1578G>T) c.*1964G>T (n.*1964G>T) c.2599G>T (p.Ala867Ser) c.3220G>T (p.Ala1074Ser) c.2887G>T (p.Ala963Ser) c.2968G>T (p.Ala990Ser) c.2986G>T (p.Ala996Ser) n.3359G>T n.3583G>T c.2155G>T (p.Ala719Ser) c.1930G>T (p.Ala644Ser) c.3025G>T (p.Ala1009Ser) n.440G>T c.1022-1578G>T c.*321G>T (n.*321G>T) n.3964G>T n.2565G>T c.3076G>T (p.Ala1026Ser) c.3124G>T (p.Ala1042Ser) c.3184G>T (p.Ala1062Ser) c.2734G>T (p.Ala912Ser) c.1036G>T (p.Ala346Ser) c.877-1578G>T (n.877-1578G>T) c.3085G>T (p.Ala1029Ser) c.3061-1578G>T (n.3061-1578G>T) c.2806G>T (p.Ala936Ser) c.2731-1578G>T (n.2731-1578G>T) c.1888G>T (p.Ala630Ser) n.3439G>T | gnomAD v4 |
13 | g.51944132C= | CA2091563714 | ATP7B | c.*894-1578G= (n.*894-1578G=) c.*1964G= (n.*1964G=) c.2599G= (p.Ala867=) c.3220G= (p.Ala1074=) c.2887G= (p.Ala963=) c.2968G= (p.Ala990=) c.2986G= (p.Ala996=) n.3359G= n.3583G= c.2155G= (p.Ala719=) c.1930G= (p.Ala644=) c.3025G= (p.Ala1009=) n.440G= c.1022-1578G= c.*321G= (n.*321G=) n.3964G= n.2565G= c.3076G= (p.Ala1026=) c.3124G= (p.Ala1042=) c.3184G= (p.Ala1062=) c.2734G= (p.Ala912=) c.1036G= (p.Ala346=) c.877-1578G= (n.877-1578G=) c.3085G= (p.Ala1029=) c.3061-1578G= (n.3061-1578G=) c.2806G= (p.Ala936=) c.2731-1578G= (n.2731-1578G=) c.1888G= (p.Ala630=) n.3439G= | |
13 | g.51944132C>G | CA388029830 | ATP7B | c.*894-1578G>C (n.*894-1578G>C) c.*1964G>C (n.*1964G>C) c.2599G>C (p.Ala867Pro) c.3220G>C (p.Ala1074Pro) c.2887G>C (p.Ala963Pro) c.2968G>C (p.Ala990Pro) c.2986G>C (p.Ala996Pro) n.3359G>C n.3583G>C c.2155G>C (p.Ala719Pro) c.1930G>C (p.Ala644Pro) c.3025G>C (p.Ala1009Pro) n.440G>C c.1022-1578G>C c.*321G>C (n.*321G>C) n.3964G>C n.2565G>C c.3076G>C (p.Ala1026Pro) c.3124G>C (p.Ala1042Pro) c.3184G>C (p.Ala1062Pro) c.2734G>C (p.Ala912Pro) c.1036G>C (p.Ala346Pro) c.877-1578G>C (n.877-1578G>C) c.3085G>C (p.Ala1029Pro) c.3061-1578G>C (n.3061-1578G>C) c.2806G>C (p.Ala936Pro) c.2731-1578G>C (n.2731-1578G>C) c.1888G>C (p.Ala630Pro) n.3439G>C | |
13 | g.51944132C>T | CA388029831 | ATP7B | c.*894-1578G>A (n.*894-1578G>A) c.*1964G>A (n.*1964G>A) c.2599G>A (p.Ala867Thr) c.3220G>A (p.Ala1074Thr) c.2887G>A (p.Ala963Thr) c.2968G>A (p.Ala990Thr) c.2986G>A (p.Ala996Thr) n.3359G>A n.3583G>A c.2155G>A (p.Ala719Thr) c.1930G>A (p.Ala644Thr) c.3025G>A (p.Ala1009Thr) n.440G>A c.1022-1578G>A c.*321G>A (n.*321G>A) n.3964G>A n.2565G>A c.3076G>A (p.Ala1026Thr) c.3124G>A (p.Ala1042Thr) c.3184G>A (p.Ala1062Thr) c.2734G>A (p.Ala912Thr) c.1036G>A (p.Ala346Thr) c.877-1578G>A (n.877-1578G>A) c.3085G>A (p.Ala1029Thr) c.3061-1578G>A (n.3061-1578G>A) c.2806G>A (p.Ala936Thr) c.2731-1578G>A (n.2731-1578G>A) c.1888G>A (p.Ala630Thr) n.3439G>A | ClinVar dbSNP gnomAD v4 COSMIC |
13 | g.51944133C>A | CA483894633 | ATP7B | c.*894-1579G>T (n.*894-1579G>T) c.*1963G>T (n.*1963G>T) c.2598G>T (p.Val866=) c.3219G>T (p.Val1073=) c.2886G>T (p.Val962=) c.2967G>T (p.Val989=) c.2985G>T (p.Val995=) n.3358G>T n.3582G>T c.2154G>T (p.Val718=) c.1929G>T (p.Val643=) c.3024G>T (p.Val1008=) n.439G>T c.1022-1579G>T c.*320G>T (n.*320G>T) n.3963G>T n.2564G>T c.3075G>T (p.Val1025=) c.3123G>T (p.Val1041=) c.3183G>T (p.Val1061=) c.2733G>T (p.Val911=) c.1035G>T (p.Val345=) c.877-1579G>T (n.877-1579G>T) c.3084G>T (p.Val1028=) c.3061-1579G>T (n.3061-1579G>T) c.2805G>T (p.Val935=) c.2731-1579G>T (n.2731-1579G>T) c.1887G>T (p.Val629=) n.3438G>T | |
13 | g.51944133C= | CA2091563719 | ATP7B | c.*894-1579G= (n.*894-1579G=) c.*1963G= (n.*1963G=) c.2598G= (p.Val866=) c.3219G= (p.Val1073=) c.2886G= (p.Val962=) c.2967G= (p.Val989=) c.2985G= (p.Val995=) n.3358G= n.3582G= c.2154G= (p.Val718=) c.1929G= (p.Val643=) c.3024G= (p.Val1008=) n.439G= c.1022-1579G= c.*320G= (n.*320G=) n.3963G= n.2564G= c.3075G= (p.Val1025=) c.3123G= (p.Val1041=) c.3183G= (p.Val1061=) c.2733G= (p.Val911=) c.1035G= (p.Val345=) c.877-1579G= (n.877-1579G=) c.3084G= (p.Val1028=) c.3061-1579G= (n.3061-1579G=) c.2805G= (p.Val935=) c.2731-1579G= (n.2731-1579G=) c.1887G= (p.Val629=) n.3438G= | |
13 | g.51944133C>G | CA483894634 | ATP7B | c.*894-1579G>C (n.*894-1579G>C) c.*1963G>C (n.*1963G>C) c.2598G>C (p.Val866=) c.3219G>C (p.Val1073=) c.2886G>C (p.Val962=) c.2967G>C (p.Val989=) c.2985G>C (p.Val995=) n.3358G>C n.3582G>C c.2154G>C (p.Val718=) c.1929G>C (p.Val643=) c.3024G>C (p.Val1008=) n.439G>C c.1022-1579G>C c.*320G>C (n.*320G>C) n.3963G>C n.2564G>C c.3075G>C (p.Val1025=) c.3123G>C (p.Val1041=) c.3183G>C (p.Val1061=) c.2733G>C (p.Val911=) c.1035G>C (p.Val345=) c.877-1579G>C (n.877-1579G>C) c.3084G>C (p.Val1028=) c.3061-1579G>C (n.3061-1579G>C) c.2805G>C (p.Val935=) c.2731-1579G>C (n.2731-1579G>C) c.1887G>C (p.Val629=) n.3438G>C | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51944133C>T | CA483894635 | ATP7B | c.*894-1579G>A (n.*894-1579G>A) c.*1963G>A (n.*1963G>A) c.2598G>A (p.Val866=) c.3219G>A (p.Val1073=) c.2886G>A (p.Val962=) c.2967G>A (p.Val989=) c.2985G>A (p.Val995=) n.3358G>A n.3582G>A c.2154G>A (p.Val718=) c.1929G>A (p.Val643=) c.3024G>A (p.Val1008=) n.439G>A c.1022-1579G>A c.*320G>A (n.*320G>A) n.3963G>A n.2564G>A c.3075G>A (p.Val1025=) c.3123G>A (p.Val1041=) c.3183G>A (p.Val1061=) c.2733G>A (p.Val911=) c.1035G>A (p.Val345=) c.877-1579G>A (n.877-1579G>A) c.3084G>A (p.Val1028=) c.3061-1579G>A (n.3061-1579G>A) c.2805G>A (p.Val935=) c.2731-1579G>A (n.2731-1579G>A) c.1887G>A (p.Val629=) n.3438G>A | |
13 | g.51944134A= | CA2091563724 | ATP7B | c.*894-1580T= (n.*894-1580T=) c.*1962T= (n.*1962T=) c.2597T= (p.Val866=) c.3218T= (p.Val1073=) c.2885T= (p.Val962=) c.2966T= (p.Val989=) c.2984T= (p.Val995=) n.3357T= n.3581T= c.2153T= (p.Val718=) c.1928T= (p.Val643=) c.3023T= (p.Val1008=) n.438T= c.1022-1580T= c.*319T= (n.*319T=) n.3962T= n.2563T= c.3074T= (p.Val1025=) c.3122T= (p.Val1041=) c.3182T= (p.Val1061=) c.2732T= (p.Val911=) c.1034T= (p.Val345=) c.877-1580T= (n.877-1580T=) c.3083T= (p.Val1028=) c.3061-1580T= (n.3061-1580T=) c.2804T= (p.Val935=) c.2731-1580T= (n.2731-1580T=) c.1886T= (p.Val629=) n.3437T= | |
13 | g.51944134A>C | CA388029832 | ATP7B | c.*894-1580T>G (n.*894-1580T>G) c.*1962T>G (n.*1962T>G) c.2597T>G (p.Val866Gly) c.3218T>G (p.Val1073Gly) c.2885T>G (p.Val962Gly) c.2966T>G (p.Val989Gly) c.2984T>G (p.Val995Gly) n.3357T>G n.3581T>G c.2153T>G (p.Val718Gly) c.1928T>G (p.Val643Gly) c.3023T>G (p.Val1008Gly) n.438T>G c.1022-1580T>G c.*319T>G (n.*319T>G) n.3962T>G n.2563T>G c.3074T>G (p.Val1025Gly) c.3122T>G (p.Val1041Gly) c.3182T>G (p.Val1061Gly) c.2732T>G (p.Val911Gly) c.1034T>G (p.Val345Gly) c.877-1580T>G (n.877-1580T>G) c.3083T>G (p.Val1028Gly) c.3061-1580T>G (n.3061-1580T>G) c.2804T>G (p.Val935Gly) c.2731-1580T>G (n.2731-1580T>G) c.1886T>G (p.Val629Gly) n.3437T>G | |
13 | g.51944134A>G | CA388029833 | ATP7B | c.*894-1580T>C (n.*894-1580T>C) c.*1962T>C (n.*1962T>C) c.2597T>C (p.Val866Ala) c.3218T>C (p.Val1073Ala) c.2885T>C (p.Val962Ala) c.2966T>C (p.Val989Ala) c.2984T>C (p.Val995Ala) n.3357T>C n.3581T>C c.2153T>C (p.Val718Ala) c.1928T>C (p.Val643Ala) c.3023T>C (p.Val1008Ala) n.438T>C c.1022-1580T>C c.*319T>C (n.*319T>C) n.3962T>C n.2563T>C c.3074T>C (p.Val1025Ala) c.3122T>C (p.Val1041Ala) c.3182T>C (p.Val1061Ala) c.2732T>C (p.Val911Ala) c.1034T>C (p.Val345Ala) c.877-1580T>C (n.877-1580T>C) c.3083T>C (p.Val1028Ala) c.3061-1580T>C (n.3061-1580T>C) c.2804T>C (p.Val935Ala) c.2731-1580T>C (n.2731-1580T>C) c.1886T>C (p.Val629Ala) n.3437T>C | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944134A>T | CA388029834 | ATP7B | c.*894-1580T>A (n.*894-1580T>A) c.*1962T>A (n.*1962T>A) c.2597T>A (p.Val866Glu) c.3218T>A (p.Val1073Glu) c.2885T>A (p.Val962Glu) c.2966T>A (p.Val989Glu) c.2984T>A (p.Val995Glu) n.3357T>A n.3581T>A c.2153T>A (p.Val718Glu) c.1928T>A (p.Val643Glu) c.3023T>A (p.Val1008Glu) n.438T>A c.1022-1580T>A c.*319T>A (n.*319T>A) n.3962T>A n.2563T>A c.3074T>A (p.Val1025Glu) c.3122T>A (p.Val1041Glu) c.3182T>A (p.Val1061Glu) c.2732T>A (p.Val911Glu) c.1034T>A (p.Val345Glu) c.877-1580T>A (n.877-1580T>A) c.3083T>A (p.Val1028Glu) c.3061-1580T>A (n.3061-1580T>A) c.2804T>A (p.Val935Glu) c.2731-1580T>A (n.2731-1580T>A) c.1886T>A (p.Val629Glu) n.3437T>A | |
13 | g.51944135C>A | CA388029837 | ATP7B | c.*894-1581G>T (n.*894-1581G>T) c.*1961G>T (n.*1961G>T) c.2596G>T (p.Val866Leu) c.3217G>T (p.Val1073Leu) c.2884G>T (p.Val962Leu) c.2965G>T (p.Val989Leu) c.2983G>T (p.Val995Leu) n.3356G>T n.3580G>T c.2152G>T (p.Val718Leu) c.1927G>T (p.Val643Leu) c.3022G>T (p.Val1008Leu) n.437G>T c.1022-1581G>T c.*318G>T (n.*318G>T) n.3961G>T n.2562G>T c.3073G>T (p.Val1025Leu) c.3121G>T (p.Val1041Leu) c.3181G>T (p.Val1061Leu) c.2731G>T (p.Val911Leu) c.1033G>T (p.Val345Leu) c.877-1581G>T (n.877-1581G>T) c.3082G>T (p.Val1028Leu) c.3061-1581G>T (n.3061-1581G>T) c.2803G>T (p.Val935Leu) c.2731-1581G>T (n.2731-1581G>T) c.1885G>T (p.Val629Leu) n.3436G>T | |
13 | g.51944135C= | CA2091563731 | ATP7B | c.*894-1581G= (n.*894-1581G=) c.*1961G= (n.*1961G=) c.2596G= (p.Val866=) c.3217G= (p.Val1073=) c.2884G= (p.Val962=) c.2965G= (p.Val989=) c.2983G= (p.Val995=) n.3356G= n.3580G= c.2152G= (p.Val718=) c.1927G= (p.Val643=) c.3022G= (p.Val1008=) n.437G= c.1022-1581G= c.*318G= (n.*318G=) n.3961G= n.2562G= c.3073G= (p.Val1025=) c.3121G= (p.Val1041=) c.3181G= (p.Val1061=) c.2731G= (p.Val911=) c.1033G= (p.Val345=) c.877-1581G= (n.877-1581G=) c.3082G= (p.Val1028=) c.3061-1581G= (n.3061-1581G=) c.2803G= (p.Val935=) c.2731-1581G= (n.2731-1581G=) c.1885G= (p.Val629=) n.3436G= | |
13 | g.51944135C>G | CA388029838 | ATP7B | c.*894-1581G>C (n.*894-1581G>C) c.*1961G>C (n.*1961G>C) c.2596G>C (p.Val866Leu) c.3217G>C (p.Val1073Leu) c.2884G>C (p.Val962Leu) c.2965G>C (p.Val989Leu) c.2983G>C (p.Val995Leu) n.3356G>C n.3580G>C c.2152G>C (p.Val718Leu) c.1927G>C (p.Val643Leu) c.3022G>C (p.Val1008Leu) n.437G>C c.1022-1581G>C c.*318G>C (n.*318G>C) n.3961G>C n.2562G>C c.3073G>C (p.Val1025Leu) c.3121G>C (p.Val1041Leu) c.3181G>C (p.Val1061Leu) c.2731G>C (p.Val911Leu) c.1033G>C (p.Val345Leu) c.877-1581G>C (n.877-1581G>C) c.3082G>C (p.Val1028Leu) c.3061-1581G>C (n.3061-1581G>C) c.2803G>C (p.Val935Leu) c.2731-1581G>C (n.2731-1581G>C) c.1885G>C (p.Val629Leu) n.3436G>C | |
13 | g.51944135C>T | CA6988778 | ATP7B | c.*894-1581G>A (n.*894-1581G>A) c.*1961G>A (n.*1961G>A) c.2596G>A (p.Val866Met) c.3217G>A (p.Val1073Met) c.2884G>A (p.Val962Met) c.2965G>A (p.Val989Met) c.2983G>A (p.Val995Met) n.3356G>A n.3580G>A c.2152G>A (p.Val718Met) c.1927G>A (p.Val643Met) c.3022G>A (p.Val1008Met) n.437G>A c.1022-1581G>A c.*318G>A (n.*318G>A) n.3961G>A n.2562G>A c.3073G>A (p.Val1025Met) c.3121G>A (p.Val1041Met) c.3181G>A (p.Val1061Met) c.2731G>A (p.Val911Met) c.1033G>A (p.Val345Met) c.877-1581G>A (n.877-1581G>A) c.3082G>A (p.Val1028Met) c.3061-1581G>A (n.3061-1581G>A) c.2803G>A (p.Val935Met) c.2731-1581G>A (n.2731-1581G>A) c.1885G>A (p.Val629Met) n.3436G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944136G>A | CA250080053 | ATP7B | c.*894-1582C>T (n.*894-1582C>T) c.*1960C>T (n.*1960C>T) c.2595C>T (p.Gly865=) c.3216C>T (p.Gly1072=) c.2883C>T (p.Gly961=) c.2964C>T (p.Gly988=) c.2982C>T (p.Gly994=) n.3355C>T n.3579C>T c.2151C>T (p.Gly717=) c.1926C>T (p.Gly642=) c.3021C>T (p.Gly1007=) n.436C>T c.1022-1582C>T c.*317C>T (n.*317C>T) n.3960C>T n.2561C>T c.3072C>T (p.Gly1024=) c.3120C>T (p.Gly1040=) c.3180C>T (p.Gly1060=) c.2730C>T (p.Gly910=) c.1032C>T (p.Gly344=) c.877-1582C>T (n.877-1582C>T) c.3081C>T (p.Gly1027=) c.3061-1582C>T (n.3061-1582C>T) c.2802C>T (p.Gly934=) c.2731-1582C>T (n.2731-1582C>T) c.1884C>T (p.Gly628=) n.3435C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944136G>C | CA483894637 | ATP7B | c.*894-1582C>G (n.*894-1582C>G) c.*1960C>G (n.*1960C>G) c.2595C>G (p.Gly865=) c.3216C>G (p.Gly1072=) c.2883C>G (p.Gly961=) c.2964C>G (p.Gly988=) c.2982C>G (p.Gly994=) n.3355C>G n.3579C>G c.2151C>G (p.Gly717=) c.1926C>G (p.Gly642=) c.3021C>G (p.Gly1007=) n.436C>G c.1022-1582C>G c.*317C>G (n.*317C>G) n.3960C>G n.2561C>G c.3072C>G (p.Gly1024=) c.3120C>G (p.Gly1040=) c.3180C>G (p.Gly1060=) c.2730C>G (p.Gly910=) c.1032C>G (p.Gly344=) c.877-1582C>G (n.877-1582C>G) c.3081C>G (p.Gly1027=) c.3061-1582C>G (n.3061-1582C>G) c.2802C>G (p.Gly934=) c.2731-1582C>G (n.2731-1582C>G) c.1884C>G (p.Gly628=) n.3435C>G | |
13 | g.51944136G= | CA2091563735 | ATP7B | c.*894-1582C= (n.*894-1582C=) c.*1960C= (n.*1960C=) c.2595C= (p.Gly865=) c.3216C= (p.Gly1072=) c.2883C= (p.Gly961=) c.2964C= (p.Gly988=) c.2982C= (p.Gly994=) n.3355C= n.3579C= c.2151C= (p.Gly717=) c.1926C= (p.Gly642=) c.3021C= (p.Gly1007=) n.436C= c.1022-1582C= c.*317C= (n.*317C=) n.3960C= n.2561C= c.3072C= (p.Gly1024=) c.3120C= (p.Gly1040=) c.3180C= (p.Gly1060=) c.2730C= (p.Gly910=) c.1032C= (p.Gly344=) c.877-1582C= (n.877-1582C=) c.3081C= (p.Gly1027=) c.3061-1582C= (n.3061-1582C=) c.2802C= (p.Gly934=) c.2731-1582C= (n.2731-1582C=) c.1884C= (p.Gly628=) n.3435C= | |
13 | g.51944136G>T | CA483894638 | ATP7B | c.*894-1582C>A (n.*894-1582C>A) c.*1960C>A (n.*1960C>A) c.2595C>A (p.Gly865=) c.3216C>A (p.Gly1072=) c.2883C>A (p.Gly961=) c.2964C>A (p.Gly988=) c.2982C>A (p.Gly994=) n.3355C>A n.3579C>A c.2151C>A (p.Gly717=) c.1926C>A (p.Gly642=) c.3021C>A (p.Gly1007=) n.436C>A c.1022-1582C>A c.*317C>A (n.*317C>A) n.3960C>A n.2561C>A c.3072C>A (p.Gly1024=) c.3120C>A (p.Gly1040=) c.3180C>A (p.Gly1060=) c.2730C>A (p.Gly910=) c.1032C>A (p.Gly344=) c.877-1582C>A (n.877-1582C>A) c.3081C>A (p.Gly1027=) c.3061-1582C>A (n.3061-1582C>A) c.2802C>A (p.Gly934=) c.2731-1582C>A (n.2731-1582C>A) c.1884C>A (p.Gly628=) n.3435C>A | ClinVar dbSNP gnomAD v4 |
13 | g.51944137C>A | CA388029843 | ATP7B | c.*894-1583G>T (n.*894-1583G>T) c.*1959G>T (n.*1959G>T) c.2594G>T (p.Gly865Val) c.3215G>T (p.Gly1072Val) c.2882G>T (p.Gly961Val) c.2963G>T (p.Gly988Val) c.2981G>T (p.Gly994Val) n.3354G>T n.3578G>T c.2150G>T (p.Gly717Val) c.1925G>T (p.Gly642Val) c.3020G>T (p.Gly1007Val) n.435G>T c.1022-1583G>T c.*316G>T (n.*316G>T) n.3959G>T n.2560G>T c.3071G>T (p.Gly1024Val) c.3119G>T (p.Gly1040Val) c.3179G>T (p.Gly1060Val) c.2729G>T (p.Gly910Val) c.1031G>T (p.Gly344Val) c.877-1583G>T (n.877-1583G>T) c.3080G>T (p.Gly1027Val) c.3061-1583G>T (n.3061-1583G>T) c.2801G>T (p.Gly934Val) c.2731-1583G>T (n.2731-1583G>T) c.1883G>T (p.Gly628Val) n.3434G>T | ClinVar |
13 | g.51944137C= | CA2091563749 | ATP7B | c.*894-1583G= (n.*894-1583G=) c.*1959G= (n.*1959G=) c.2594G= (p.Gly865=) c.3215G= (p.Gly1072=) c.2882G= (p.Gly961=) c.2963G= (p.Gly988=) c.2981G= (p.Gly994=) n.3354G= n.3578G= c.2150G= (p.Gly717=) c.1925G= (p.Gly642=) c.3020G= (p.Gly1007=) n.435G= c.1022-1583G= c.*316G= (n.*316G=) n.3959G= n.2560G= c.3071G= (p.Gly1024=) c.3119G= (p.Gly1040=) c.3179G= (p.Gly1060=) c.2729G= (p.Gly910=) c.1031G= (p.Gly344=) c.877-1583G= (n.877-1583G=) c.3080G= (p.Gly1027=) c.3061-1583G= (n.3061-1583G=) c.2801G= (p.Gly934=) c.2731-1583G= (n.2731-1583G=) c.1883G= (p.Gly628=) n.3434G= | |
13 | g.51944137C>G | CA388029841 | ATP7B | c.*894-1583G>C (n.*894-1583G>C) c.*1959G>C (n.*1959G>C) c.2594G>C (p.Gly865Ala) c.3215G>C (p.Gly1072Ala) c.2882G>C (p.Gly961Ala) c.2963G>C (p.Gly988Ala) c.2981G>C (p.Gly994Ala) n.3354G>C n.3578G>C c.2150G>C (p.Gly717Ala) c.1925G>C (p.Gly642Ala) c.3020G>C (p.Gly1007Ala) n.435G>C c.1022-1583G>C c.*316G>C (n.*316G>C) n.3959G>C n.2560G>C c.3071G>C (p.Gly1024Ala) c.3119G>C (p.Gly1040Ala) c.3179G>C (p.Gly1060Ala) c.2729G>C (p.Gly910Ala) c.1031G>C (p.Gly344Ala) c.877-1583G>C (n.877-1583G>C) c.3080G>C (p.Gly1027Ala) c.3061-1583G>C (n.3061-1583G>C) c.2801G>C (p.Gly934Ala) c.2731-1583G>C (n.2731-1583G>C) c.1883G>C (p.Gly628Ala) n.3434G>C | |
13 | g.51944137C>T | CA388029839 | ATP7B | c.*894-1583G>A (n.*894-1583G>A) c.*1959G>A (n.*1959G>A) c.2594G>A (p.Gly865Asp) c.3215G>A (p.Gly1072Asp) c.2882G>A (p.Gly961Asp) c.2963G>A (p.Gly988Asp) c.2981G>A (p.Gly994Asp) n.3354G>A n.3578G>A c.2150G>A (p.Gly717Asp) c.1925G>A (p.Gly642Asp) c.3020G>A (p.Gly1007Asp) n.435G>A c.1022-1583G>A c.*316G>A (n.*316G>A) n.3959G>A n.2560G>A c.3071G>A (p.Gly1024Asp) c.3119G>A (p.Gly1040Asp) c.3179G>A (p.Gly1060Asp) c.2729G>A (p.Gly910Asp) c.1031G>A (p.Gly344Asp) c.877-1583G>A (n.877-1583G>A) c.3080G>A (p.Gly1027Asp) c.3061-1583G>A (n.3061-1583G>A) c.2801G>A (p.Gly934Asp) c.2731-1583G>A (n.2731-1583G>A) c.1883G>A (p.Gly628Asp) n.3434G>A | ClinVar dbSNP gnomAD v2 |
13 | g.51944138C>A | CA388029845 | ATP7B | c.*894-1584G>T (n.*894-1584G>T) c.*1958G>T (n.*1958G>T) c.2593G>T (p.Gly865Cys) c.3214G>T (p.Gly1072Cys) c.2881G>T (p.Gly961Cys) c.2962G>T (p.Gly988Cys) c.2980G>T (p.Gly994Cys) n.3353G>T n.3577G>T c.2149G>T (p.Gly717Cys) c.1924G>T (p.Gly642Cys) c.3019G>T (p.Gly1007Cys) n.434G>T c.1022-1584G>T c.*315G>T (n.*315G>T) n.3958G>T n.2559G>T c.3070G>T (p.Gly1024Cys) c.3118G>T (p.Gly1040Cys) c.3178G>T (p.Gly1060Cys) c.2728G>T (p.Gly910Cys) c.1030G>T (p.Gly344Cys) c.877-1584G>T (n.877-1584G>T) c.3079G>T (p.Gly1027Cys) c.3061-1584G>T (n.3061-1584G>T) c.2800G>T (p.Gly934Cys) c.2731-1584G>T (n.2731-1584G>T) c.1882G>T (p.Gly628Cys) n.3433G>T | |
13 | g.51944138C= | CA2091563759 | ATP7B | c.*894-1584G= (n.*894-1584G=) c.*1958G= (n.*1958G=) c.2593G= (p.Gly865=) c.3214G= (p.Gly1072=) c.2881G= (p.Gly961=) c.2962G= (p.Gly988=) c.2980G= (p.Gly994=) n.3353G= n.3577G= c.2149G= (p.Gly717=) c.1924G= (p.Gly642=) c.3019G= (p.Gly1007=) n.434G= c.1022-1584G= c.*315G= (n.*315G=) n.3958G= n.2559G= c.3070G= (p.Gly1024=) c.3118G= (p.Gly1040=) c.3178G= (p.Gly1060=) c.2728G= (p.Gly910=) c.1030G= (p.Gly344=) c.877-1584G= (n.877-1584G=) c.3079G= (p.Gly1027=) c.3061-1584G= (n.3061-1584G=) c.2800G= (p.Gly934=) c.2731-1584G= (n.2731-1584G=) c.1882G= (p.Gly628=) n.3433G= | |
13 | g.51944138C>G | CA388029846 | ATP7B | c.*894-1584G>C (n.*894-1584G>C) c.*1958G>C (n.*1958G>C) c.2593G>C (p.Gly865Arg) c.3214G>C (p.Gly1072Arg) c.2881G>C (p.Gly961Arg) c.2962G>C (p.Gly988Arg) c.2980G>C (p.Gly994Arg) n.3353G>C n.3577G>C c.2149G>C (p.Gly717Arg) c.1924G>C (p.Gly642Arg) c.3019G>C (p.Gly1007Arg) n.434G>C c.1022-1584G>C c.*315G>C (n.*315G>C) n.3958G>C n.2559G>C c.3070G>C (p.Gly1024Arg) c.3118G>C (p.Gly1040Arg) c.3178G>C (p.Gly1060Arg) c.2728G>C (p.Gly910Arg) c.1030G>C (p.Gly344Arg) c.877-1584G>C (n.877-1584G>C) c.3079G>C (p.Gly1027Arg) c.3061-1584G>C (n.3061-1584G>C) c.2800G>C (p.Gly934Arg) c.2731-1584G>C (n.2731-1584G>C) c.1882G>C (p.Gly628Arg) n.3433G>C | |
13 | g.51944138C>T | CA388029847 | ATP7B | c.*894-1584G>A (n.*894-1584G>A) c.*1958G>A (n.*1958G>A) c.2593G>A (p.Gly865Ser) c.3214G>A (p.Gly1072Ser) c.2881G>A (p.Gly961Ser) c.2962G>A (p.Gly988Ser) c.2980G>A (p.Gly994Ser) n.3353G>A n.3577G>A c.2149G>A (p.Gly717Ser) c.1924G>A (p.Gly642Ser) c.3019G>A (p.Gly1007Ser) n.434G>A c.1022-1584G>A c.*315G>A (n.*315G>A) n.3958G>A n.2559G>A c.3070G>A (p.Gly1024Ser) c.3118G>A (p.Gly1040Ser) c.3178G>A (p.Gly1060Ser) c.2728G>A (p.Gly910Ser) c.1030G>A (p.Gly344Ser) c.877-1584G>A (n.877-1584G>A) c.3079G>A (p.Gly1027Ser) c.3061-1584G>A (n.3061-1584G>A) c.2800G>A (p.Gly934Ser) c.2731-1584G>A (n.2731-1584G>A) c.1882G>A (p.Gly628Ser) n.3433G>A | dbSNP gnomAD v4 |
13 | g.51944139C>A | CA388029848 | ATP7B | c.*894-1585G>T (n.*894-1585G>T) c.*1957G>T (n.*1957G>T) c.2592G>T (p.Leu864Phe) c.3213G>T (p.Leu1071Phe) c.2880G>T (p.Leu960Phe) c.2961G>T (p.Leu987Phe) c.2979G>T (p.Leu993Phe) n.3352G>T n.3576G>T c.2148G>T (p.Leu716Phe) c.1923G>T (p.Leu641Phe) c.3018G>T (p.Leu1006Phe) n.433G>T c.1022-1585G>T c.*314G>T (n.*314G>T) n.3957G>T n.2558G>T c.3069G>T (p.Leu1023Phe) c.3117G>T (p.Leu1039Phe) c.3177G>T (p.Leu1059Phe) c.2727G>T (p.Leu909Phe) c.1029G>T (p.Leu343Phe) c.877-1585G>T (n.877-1585G>T) c.3078G>T (p.Leu1026Phe) c.3061-1585G>T (n.3061-1585G>T) c.2799G>T (p.Leu933Phe) c.2731-1585G>T (n.2731-1585G>T) c.1881G>T (p.Leu627Phe) n.3432G>T | |
13 | g.51944139C>G | CA388029850 | ATP7B | c.*894-1585G>C (n.*894-1585G>C) c.*1957G>C (n.*1957G>C) c.2592G>C (p.Leu864Phe) c.3213G>C (p.Leu1071Phe) c.2880G>C (p.Leu960Phe) c.2961G>C (p.Leu987Phe) c.2979G>C (p.Leu993Phe) n.3352G>C n.3576G>C c.2148G>C (p.Leu716Phe) c.1923G>C (p.Leu641Phe) c.3018G>C (p.Leu1006Phe) n.433G>C c.1022-1585G>C c.*314G>C (n.*314G>C) n.3957G>C n.2558G>C c.3069G>C (p.Leu1023Phe) c.3117G>C (p.Leu1039Phe) c.3177G>C (p.Leu1059Phe) c.2727G>C (p.Leu909Phe) c.1029G>C (p.Leu343Phe) c.877-1585G>C (n.877-1585G>C) c.3078G>C (p.Leu1026Phe) c.3061-1585G>C (n.3061-1585G>C) c.2799G>C (p.Leu933Phe) c.2731-1585G>C (n.2731-1585G>C) c.1881G>C (p.Leu627Phe) n.3432G>C | gnomAD v4 |
13 | g.51944139C>T | CA483894640 | ATP7B | c.*894-1585G>A (n.*894-1585G>A) c.*1957G>A (n.*1957G>A) c.2592G>A (p.Leu864=) c.3213G>A (p.Leu1071=) c.2880G>A (p.Leu960=) c.2961G>A (p.Leu987=) c.2979G>A (p.Leu993=) n.3352G>A n.3576G>A c.2148G>A (p.Leu716=) c.1923G>A (p.Leu641=) c.3018G>A (p.Leu1006=) n.433G>A c.1022-1585G>A c.*314G>A (n.*314G>A) n.3957G>A n.2558G>A c.3069G>A (p.Leu1023=) c.3117G>A (p.Leu1039=) c.3177G>A (p.Leu1059=) c.2727G>A (p.Leu909=) c.1029G>A (p.Leu343=) c.877-1585G>A (n.877-1585G>A) c.3078G>A (p.Leu1026=) c.3061-1585G>A (n.3061-1585G>A) c.2799G>A (p.Leu933=) c.2731-1585G>A (n.2731-1585G>A) c.1881G>A (p.Leu627=) n.3432G>A | |
13 | g.51944140A>C | CA388029851 | ATP7B | c.*894-1586T>G (n.*894-1586T>G) c.*1956T>G (n.*1956T>G) c.2591T>G (p.Leu864Trp) c.3212T>G (p.Leu1071Trp) c.2879T>G (p.Leu960Trp) c.2960T>G (p.Leu987Trp) c.2978T>G (p.Leu993Trp) n.3351T>G n.3575T>G c.2147T>G (p.Leu716Trp) c.1922T>G (p.Leu641Trp) c.3017T>G (p.Leu1006Trp) n.432T>G c.1022-1586T>G c.*313T>G (n.*313T>G) n.3956T>G n.2557T>G c.3068T>G (p.Leu1023Trp) c.3116T>G (p.Leu1039Trp) c.3176T>G (p.Leu1059Trp) c.2726T>G (p.Leu909Trp) c.1028T>G (p.Leu343Trp) c.877-1586T>G (n.877-1586T>G) c.3077T>G (p.Leu1026Trp) c.3061-1586T>G (n.3061-1586T>G) c.2798T>G (p.Leu933Trp) c.2731-1586T>G (n.2731-1586T>G) c.1880T>G (p.Leu627Trp) n.3431T>G | |
13 | g.51944140A>G | CA388029853 | ATP7B | c.*894-1586T>C (n.*894-1586T>C) c.*1956T>C (n.*1956T>C) c.2591T>C (p.Leu864Ser) c.3212T>C (p.Leu1071Ser) c.2879T>C (p.Leu960Ser) c.2960T>C (p.Leu987Ser) c.2978T>C (p.Leu993Ser) n.3351T>C n.3575T>C c.2147T>C (p.Leu716Ser) c.1922T>C (p.Leu641Ser) c.3017T>C (p.Leu1006Ser) n.432T>C c.1022-1586T>C c.*313T>C (n.*313T>C) n.3956T>C n.2557T>C c.3068T>C (p.Leu1023Ser) c.3116T>C (p.Leu1039Ser) c.3176T>C (p.Leu1059Ser) c.2726T>C (p.Leu909Ser) c.1028T>C (p.Leu343Ser) c.877-1586T>C (n.877-1586T>C) c.3077T>C (p.Leu1026Ser) c.3061-1586T>C (n.3061-1586T>C) c.2798T>C (p.Leu933Ser) c.2731-1586T>C (n.2731-1586T>C) c.1880T>C (p.Leu627Ser) n.3431T>C | |
13 | g.51944140A>T | CA388029856 | ATP7B | c.*894-1586T>A (n.*894-1586T>A) c.*1956T>A (n.*1956T>A) c.2591T>A (p.Leu864Ter) c.3212T>A (p.Leu1071Ter) c.2879T>A (p.Leu960Ter) c.2960T>A (p.Leu987Ter) c.2978T>A (p.Leu993Ter) n.3351T>A n.3575T>A c.2147T>A (p.Leu716Ter) c.1922T>A (p.Leu641Ter) c.3017T>A (p.Leu1006Ter) n.432T>A c.1022-1586T>A c.*313T>A (n.*313T>A) n.3956T>A n.2557T>A c.3068T>A (p.Leu1023Ter) c.3116T>A (p.Leu1039Ter) c.3176T>A (p.Leu1059Ter) c.2726T>A (p.Leu909Ter) c.1028T>A (p.Leu343Ter) c.877-1586T>A (n.877-1586T>A) c.3077T>A (p.Leu1026Ter) c.3061-1586T>A (n.3061-1586T>A) c.2798T>A (p.Leu933Ter) c.2731-1586T>A (n.2731-1586T>A) c.1880T>A (p.Leu627Ter) n.3431T>A | |
13 | g.51944141A= | CA2091563766 | ATP7B | c.*894-1587T= (n.*894-1587T=) c.*1955T= (n.*1955T=) c.2590T= (p.Leu864=) c.3211T= (p.Leu1071=) c.2878T= (p.Leu960=) c.2959T= (p.Leu987=) c.2977T= (p.Leu993=) n.3350T= n.3574T= c.2146T= (p.Leu716=) c.1921T= (p.Leu641=) c.3016T= (p.Leu1006=) n.431T= c.1022-1587T= c.*312T= (n.*312T=) n.3955T= n.2556T= c.3067T= (p.Leu1023=) c.3115T= (p.Leu1039=) c.3175T= (p.Leu1059=) c.2725T= (p.Leu909=) c.1027T= (p.Leu343=) c.877-1587T= (n.877-1587T=) c.3076T= (p.Leu1026=) c.3061-1587T= (n.3061-1587T=) c.2797T= (p.Leu933=) c.2731-1587T= (n.2731-1587T=) c.1879T= (p.Leu627=) n.3430T= | |
13 | g.51944141A>C | CA388029858 | ATP7B | c.*894-1587T>G (n.*894-1587T>G) c.*1955T>G (n.*1955T>G) c.2590T>G (p.Leu864Val) c.3211T>G (p.Leu1071Val) c.2878T>G (p.Leu960Val) c.2959T>G (p.Leu987Val) c.2977T>G (p.Leu993Val) n.3350T>G n.3574T>G c.2146T>G (p.Leu716Val) c.1921T>G (p.Leu641Val) c.3016T>G (p.Leu1006Val) n.431T>G c.1022-1587T>G c.*312T>G (n.*312T>G) n.3955T>G n.2556T>G c.3067T>G (p.Leu1023Val) c.3115T>G (p.Leu1039Val) c.3175T>G (p.Leu1059Val) c.2725T>G (p.Leu909Val) c.1027T>G (p.Leu343Val) c.877-1587T>G (n.877-1587T>G) c.3076T>G (p.Leu1026Val) c.3061-1587T>G (n.3061-1587T>G) c.2797T>G (p.Leu933Val) c.2731-1587T>G (n.2731-1587T>G) c.1879T>G (p.Leu627Val) n.3430T>G | |
13 | g.51944141A>G | CA6988779 | ATP7B | c.*894-1587T>C (n.*894-1587T>C) c.*1955T>C (n.*1955T>C) c.2590T>C (p.Leu864=) c.3211T>C (p.Leu1071=) c.2878T>C (p.Leu960=) c.2959T>C (p.Leu987=) c.2977T>C (p.Leu993=) n.3350T>C n.3574T>C c.2146T>C (p.Leu716=) c.1921T>C (p.Leu641=) c.3016T>C (p.Leu1006=) n.431T>C c.1022-1587T>C c.*312T>C (n.*312T>C) n.3955T>C n.2556T>C c.3067T>C (p.Leu1023=) c.3115T>C (p.Leu1039=) c.3175T>C (p.Leu1059=) c.2725T>C (p.Leu909=) c.1027T>C (p.Leu343=) c.877-1587T>C (n.877-1587T>C) c.3076T>C (p.Leu1026=) c.3061-1587T>C (n.3061-1587T>C) c.2797T>C (p.Leu933=) c.2731-1587T>C (n.2731-1587T>C) c.1879T>C (p.Leu627=) n.3430T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944141A>T | CA388029861 | ATP7B | c.*894-1587T>A (n.*894-1587T>A) c.*1955T>A (n.*1955T>A) c.2590T>A (p.Leu864Met) c.3211T>A (p.Leu1071Met) c.2878T>A (p.Leu960Met) c.2959T>A (p.Leu987Met) c.2977T>A (p.Leu993Met) n.3350T>A n.3574T>A c.2146T>A (p.Leu716Met) c.1921T>A (p.Leu641Met) c.3016T>A (p.Leu1006Met) n.431T>A c.1022-1587T>A c.*312T>A (n.*312T>A) n.3955T>A n.2556T>A c.3067T>A (p.Leu1023Met) c.3115T>A (p.Leu1039Met) c.3175T>A (p.Leu1059Met) c.2725T>A (p.Leu909Met) c.1027T>A (p.Leu343Met) c.877-1587T>A (n.877-1587T>A) c.3076T>A (p.Leu1026Met) c.3061-1587T>A (n.3061-1587T>A) c.2797T>A (p.Leu933Met) c.2731-1587T>A (n.2731-1587T>A) c.1879T>A (p.Leu627Met) n.3430T>A | |
13 | g.51944142G>A | CA171311 | ATP7B | c.*894-1588C>T (n.*894-1588C>T) c.*1954C>T (n.*1954C>T) c.2589C>T (p.Pro863=) c.3210C>T (p.Pro1070=) c.2877C>T (p.Pro959=) c.2958C>T (p.Pro986=) c.2976C>T (p.Pro992=) n.3349C>T n.3573C>T c.2145C>T (p.Pro715=) c.1920C>T (p.Pro640=) c.3015C>T (p.Pro1005=) n.430C>T c.1022-1588C>T c.*311C>T (n.*311C>T) n.3954C>T n.2555C>T c.3066C>T (p.Pro1022=) c.3114C>T (p.Pro1038=) c.3174C>T (p.Pro1058=) c.2724C>T (p.Pro908=) c.1026C>T (p.Pro342=) c.877-1588C>T (n.877-1588C>T) c.3075C>T (p.Pro1025=) c.3061-1588C>T (n.3061-1588C>T) c.2796C>T (p.Pro932=) c.2731-1588C>T (n.2731-1588C>T) c.1878C>T (p.Pro626=) n.3429C>T | ClinVar dbSNP |
13 | g.51944142G>C | CA483894645 | ATP7B | c.*894-1588C>G (n.*894-1588C>G) c.*1954C>G (n.*1954C>G) c.2589C>G (p.Pro863=) c.3210C>G (p.Pro1070=) c.2877C>G (p.Pro959=) c.2958C>G (p.Pro986=) c.2976C>G (p.Pro992=) n.3349C>G n.3573C>G c.2145C>G (p.Pro715=) c.1920C>G (p.Pro640=) c.3015C>G (p.Pro1005=) n.430C>G c.1022-1588C>G c.*311C>G (n.*311C>G) n.3954C>G n.2555C>G c.3066C>G (p.Pro1022=) c.3114C>G (p.Pro1038=) c.3174C>G (p.Pro1058=) c.2724C>G (p.Pro908=) c.1026C>G (p.Pro342=) c.877-1588C>G (n.877-1588C>G) c.3075C>G (p.Pro1025=) c.3061-1588C>G (n.3061-1588C>G) c.2796C>G (p.Pro932=) c.2731-1588C>G (n.2731-1588C>G) c.1878C>G (p.Pro626=) n.3429C>G | |
13 | g.51944142G= | CA2091563776 | ATP7B | c.*894-1588C= (n.*894-1588C=) c.*1954C= (n.*1954C=) c.2589C= (p.Pro863=) c.3210C= (p.Pro1070=) c.2877C= (p.Pro959=) c.2958C= (p.Pro986=) c.2976C= (p.Pro992=) n.3349C= n.3573C= c.2145C= (p.Pro715=) c.1920C= (p.Pro640=) c.3015C= (p.Pro1005=) n.430C= c.1022-1588C= c.*311C= (n.*311C=) n.3954C= n.2555C= c.3066C= (p.Pro1022=) c.3114C= (p.Pro1038=) c.3174C= (p.Pro1058=) c.2724C= (p.Pro908=) c.1026C= (p.Pro342=) c.877-1588C= (n.877-1588C=) c.3075C= (p.Pro1025=) c.3061-1588C= (n.3061-1588C=) c.2796C= (p.Pro932=) c.2731-1588C= (n.2731-1588C=) c.1878C= (p.Pro626=) n.3429C= | |
13 | g.51944142G>T | CA483894644 | ATP7B | c.*894-1588C>A (n.*894-1588C>A) c.*1954C>A (n.*1954C>A) c.2589C>A (p.Pro863=) c.3210C>A (p.Pro1070=) c.2877C>A (p.Pro959=) c.2958C>A (p.Pro986=) c.2976C>A (p.Pro992=) n.3349C>A n.3573C>A c.2145C>A (p.Pro715=) c.1920C>A (p.Pro640=) c.3015C>A (p.Pro1005=) n.430C>A c.1022-1588C>A c.*311C>A (n.*311C>A) n.3954C>A n.2555C>A c.3066C>A (p.Pro1022=) c.3114C>A (p.Pro1038=) c.3174C>A (p.Pro1058=) c.2724C>A (p.Pro908=) c.1026C>A (p.Pro342=) c.877-1588C>A (n.877-1588C>A) c.3075C>A (p.Pro1025=) c.3061-1588C>A (n.3061-1588C>A) c.2796C>A (p.Pro932=) c.2731-1588C>A (n.2731-1588C>A) c.1878C>A (p.Pro626=) n.3429C>A | |
13 | g.51944145del | CA2623116209 | ATP7B | c.*894-1588del (n.*894-1588del) c.*1954del (n.*1954del) c.2589del (p.Leu864TrpfsTer?) c.3210del (p.Leu1071TrpfsTer?) c.2877del (p.Leu960TrpfsTer?) c.2958del (p.Leu987TrpfsTer?) c.2976del (p.Leu993TrpfsTer?) n.3349del n.3573del c.2145del (p.Leu716TrpfsTer?) c.1920del (p.Leu641TrpfsTer?) c.3015del (p.Leu1006TrpfsTer?) n.430del c.1022-1588del c.*311del (n.*311del) n.3954del n.2555del c.3066del (p.Leu1023TrpfsTer?) c.3114del (p.Leu1039TrpfsTer?) c.3174del (p.Leu1059TrpfsTer?) c.2724del (p.Leu909TrpfsTer?) c.1026del (p.Leu343TrpfsTer?) c.877-1588del (n.877-1588del) c.3075del (p.Leu1026TrpfsTer?) c.3061-1588del (n.3061-1588del) c.2796del (p.Leu933TrpfsTer?) c.2731-1588del (n.2731-1588del) c.1878del (p.Leu627TrpfsTer?) n.3429del | gnomAD v4 |
13 | g.51944143G>A | CA388029869 | ATP7B | c.*894-1589C>T (n.*894-1589C>T) c.*1953C>T (n.*1953C>T) c.2588C>T (p.Pro863Leu) c.3209C>T (p.Pro1070Leu) c.2876C>T (p.Pro959Leu) c.2957C>T (p.Pro986Leu) c.2975C>T (p.Pro992Leu) n.3348C>T n.3572C>T c.2144C>T (p.Pro715Leu) c.1919C>T (p.Pro640Leu) c.3014C>T (p.Pro1005Leu) n.429C>T c.1022-1589C>T c.*310C>T (n.*310C>T) n.3953C>T n.2554C>T c.3065C>T (p.Pro1022Leu) c.3113C>T (p.Pro1038Leu) c.3173C>T (p.Pro1058Leu) c.2723C>T (p.Pro908Leu) c.1025C>T (p.Pro342Leu) c.877-1589C>T (n.877-1589C>T) c.3074C>T (p.Pro1025Leu) c.3061-1589C>T (n.3061-1589C>T) c.2795C>T (p.Pro932Leu) c.2731-1589C>T (n.2731-1589C>T) c.1877C>T (p.Pro626Leu) n.3428C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944143G>C | CA388029864 | ATP7B | c.*894-1589C>G (n.*894-1589C>G) c.*1953C>G (n.*1953C>G) c.2588C>G (p.Pro863Arg) c.3209C>G (p.Pro1070Arg) c.2876C>G (p.Pro959Arg) c.2957C>G (p.Pro986Arg) c.2975C>G (p.Pro992Arg) n.3348C>G n.3572C>G c.2144C>G (p.Pro715Arg) c.1919C>G (p.Pro640Arg) c.3014C>G (p.Pro1005Arg) n.429C>G c.1022-1589C>G c.*310C>G (n.*310C>G) n.3953C>G n.2554C>G c.3065C>G (p.Pro1022Arg) c.3113C>G (p.Pro1038Arg) c.3173C>G (p.Pro1058Arg) c.2723C>G (p.Pro908Arg) c.1025C>G (p.Pro342Arg) c.877-1589C>G (n.877-1589C>G) c.3074C>G (p.Pro1025Arg) c.3061-1589C>G (n.3061-1589C>G) c.2795C>G (p.Pro932Arg) c.2731-1589C>G (n.2731-1589C>G) c.1877C>G (p.Pro626Arg) n.3428C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944143G= | CA2091563782 | ATP7B | c.*894-1589C= (n.*894-1589C=) c.*1953C= (n.*1953C=) c.2588C= (p.Pro863=) c.3209C= (p.Pro1070=) c.2876C= (p.Pro959=) c.2957C= (p.Pro986=) c.2975C= (p.Pro992=) n.3348C= n.3572C= c.2144C= (p.Pro715=) c.1919C= (p.Pro640=) c.3014C= (p.Pro1005=) n.429C= c.1022-1589C= c.*310C= (n.*310C=) n.3953C= n.2554C= c.3065C= (p.Pro1022=) c.3113C= (p.Pro1038=) c.3173C= (p.Pro1058=) c.2723C= (p.Pro908=) c.1025C= (p.Pro342=) c.877-1589C= (n.877-1589C=) c.3074C= (p.Pro1025=) c.3061-1589C= (n.3061-1589C=) c.2795C= (p.Pro932=) c.2731-1589C= (n.2731-1589C=) c.1877C= (p.Pro626=) n.3428C= | |
13 | g.51944143G>T | CA388029867 | ATP7B | c.*894-1589C>A (n.*894-1589C>A) c.*1953C>A (n.*1953C>A) c.2588C>A (p.Pro863His) c.3209C>A (p.Pro1070His) c.2876C>A (p.Pro959His) c.2957C>A (p.Pro986His) c.2975C>A (p.Pro992His) n.3348C>A n.3572C>A c.2144C>A (p.Pro715His) c.1919C>A (p.Pro640His) c.3014C>A (p.Pro1005His) n.429C>A c.1022-1589C>A c.*310C>A (n.*310C>A) n.3953C>A n.2554C>A c.3065C>A (p.Pro1022His) c.3113C>A (p.Pro1038His) c.3173C>A (p.Pro1058His) c.2723C>A (p.Pro908His) c.1025C>A (p.Pro342His) c.877-1589C>A (n.877-1589C>A) c.3074C>A (p.Pro1025His) c.3061-1589C>A (n.3061-1589C>A) c.2795C>A (p.Pro932His) c.2731-1589C>A (n.2731-1589C>A) c.1877C>A (p.Pro626His) n.3428C>A | |
13 | g.51944144G>A | CA388029870 | ATP7B | c.*894-1590C>T (n.*894-1590C>T) c.*1952C>T (n.*1952C>T) c.2587C>T (p.Pro863Ser) c.3208C>T (p.Pro1070Ser) c.2875C>T (p.Pro959Ser) c.2956C>T (p.Pro986Ser) c.2974C>T (p.Pro992Ser) n.3347C>T n.3571C>T c.2143C>T (p.Pro715Ser) c.1918C>T (p.Pro640Ser) c.3013C>T (p.Pro1005Ser) n.428C>T c.1022-1590C>T c.*309C>T (n.*309C>T) n.3952C>T n.2553C>T c.3064C>T (p.Pro1022Ser) c.3112C>T (p.Pro1038Ser) c.3172C>T (p.Pro1058Ser) c.2722C>T (p.Pro908Ser) c.1024C>T (p.Pro342Ser) c.877-1590C>T (n.877-1590C>T) c.3073C>T (p.Pro1025Ser) c.3061-1590C>T (n.3061-1590C>T) c.2794C>T (p.Pro932Ser) c.2731-1590C>T (n.2731-1590C>T) c.1876C>T (p.Pro626Ser) n.3427C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944144G>C | CA388029871 | ATP7B | c.*894-1590C>G (n.*894-1590C>G) c.*1952C>G (n.*1952C>G) c.2587C>G (p.Pro863Ala) c.3208C>G (p.Pro1070Ala) c.2875C>G (p.Pro959Ala) c.2956C>G (p.Pro986Ala) c.2974C>G (p.Pro992Ala) n.3347C>G n.3571C>G c.2143C>G (p.Pro715Ala) c.1918C>G (p.Pro640Ala) c.3013C>G (p.Pro1005Ala) n.428C>G c.1022-1590C>G c.*309C>G (n.*309C>G) n.3952C>G n.2553C>G c.3064C>G (p.Pro1022Ala) c.3112C>G (p.Pro1038Ala) c.3172C>G (p.Pro1058Ala) c.2722C>G (p.Pro908Ala) c.1024C>G (p.Pro342Ala) c.877-1590C>G (n.877-1590C>G) c.3073C>G (p.Pro1025Ala) c.3061-1590C>G (n.3061-1590C>G) c.2794C>G (p.Pro932Ala) c.2731-1590C>G (n.2731-1590C>G) c.1876C>G (p.Pro626Ala) n.3427C>G | |
13 | g.51944144G= | CA2091563787 | ATP7B | c.*894-1590C= (n.*894-1590C=) c.*1952C= (n.*1952C=) c.2587C= (p.Pro863=) c.3208C= (p.Pro1070=) c.2875C= (p.Pro959=) c.2956C= (p.Pro986=) c.2974C= (p.Pro992=) n.3347C= n.3571C= c.2143C= (p.Pro715=) c.1918C= (p.Pro640=) c.3013C= (p.Pro1005=) n.428C= c.1022-1590C= c.*309C= (n.*309C=) n.3952C= n.2553C= c.3064C= (p.Pro1022=) c.3112C= (p.Pro1038=) c.3172C= (p.Pro1058=) c.2722C= (p.Pro908=) c.1024C= (p.Pro342=) c.877-1590C= (n.877-1590C=) c.3073C= (p.Pro1025=) c.3061-1590C= (n.3061-1590C=) c.2794C= (p.Pro932=) c.2731-1590C= (n.2731-1590C=) c.1876C= (p.Pro626=) n.3427C= | |
13 | g.51944144G>T | CA388029873 | ATP7B | c.*894-1590C>A (n.*894-1590C>A) c.*1952C>A (n.*1952C>A) c.2587C>A (p.Pro863Thr) c.3208C>A (p.Pro1070Thr) c.2875C>A (p.Pro959Thr) c.2956C>A (p.Pro986Thr) c.2974C>A (p.Pro992Thr) n.3347C>A n.3571C>A c.2143C>A (p.Pro715Thr) c.1918C>A (p.Pro640Thr) c.3013C>A (p.Pro1005Thr) n.428C>A c.1022-1590C>A c.*309C>A (n.*309C>A) n.3952C>A n.2553C>A c.3064C>A (p.Pro1022Thr) c.3112C>A (p.Pro1038Thr) c.3172C>A (p.Pro1058Thr) c.2722C>A (p.Pro908Thr) c.1024C>A (p.Pro342Thr) c.877-1590C>A (n.877-1590C>A) c.3073C>A (p.Pro1025Thr) c.3061-1590C>A (n.3061-1590C>A) c.2794C>A (p.Pro932Thr) c.2731-1590C>A (n.2731-1590C>A) c.1876C>A (p.Pro626Thr) n.3427C>A | |
13 | g.51944145G>A | CA6988780 | ATP7B | c.*894-1591C>T (n.*894-1591C>T) c.*1951C>T (n.*1951C>T) c.2586C>T (p.His862=) c.3207C>T (p.His1069=) c.2874C>T (p.His958=) c.2955C>T (p.His985=) c.2973C>T (p.His991=) n.3346C>T n.3570C>T c.2142C>T (p.His714=) c.1917C>T (p.His639=) c.3012C>T (p.His1004=) n.427C>T c.1022-1591C>T c.*308C>T (n.*308C>T) n.3951C>T n.2552C>T c.3063C>T (p.His1021=) c.3111C>T (p.His1037=) c.3171C>T (p.His1057=) c.2721C>T (p.His907=) c.1023C>T (p.His341=) c.877-1591C>T (n.877-1591C>T) c.3072C>T (p.His1024=) c.3061-1591C>T (n.3061-1591C>T) c.2793C>T (p.His931=) c.2731-1591C>T (n.2731-1591C>T) c.1875C>T (p.His625=) n.3426C>T | ClinVar dbSNP ExAC gnomAD v2 |
13 | g.51944145G>C | CA388029876 | ATP7B | c.*894-1591C>G (n.*894-1591C>G) c.*1951C>G (n.*1951C>G) c.2586C>G (p.His862Gln) c.3207C>G (p.His1069Gln) c.2874C>G (p.His958Gln) c.2955C>G (p.His985Gln) c.2973C>G (p.His991Gln) n.3346C>G n.3570C>G c.2142C>G (p.His714Gln) c.1917C>G (p.His639Gln) c.3012C>G (p.His1004Gln) n.427C>G c.1022-1591C>G c.*308C>G (n.*308C>G) n.3951C>G n.2552C>G c.3063C>G (p.His1021Gln) c.3111C>G (p.His1037Gln) c.3171C>G (p.His1057Gln) c.2721C>G (p.His907Gln) c.1023C>G (p.His341Gln) c.877-1591C>G (n.877-1591C>G) c.3072C>G (p.His1024Gln) c.3061-1591C>G (n.3061-1591C>G) c.2793C>G (p.His931Gln) c.2731-1591C>G (n.2731-1591C>G) c.1875C>G (p.His625Gln) n.3426C>G | |
13 | g.51944145G= | CA2091563802 | ATP7B | c.*894-1591C= (n.*894-1591C=) c.*1951C= (n.*1951C=) c.2586C= (p.His862=) c.3207C= (p.His1069=) c.2874C= (p.His958=) c.2955C= (p.His985=) c.2973C= (p.His991=) n.3346C= n.3570C= c.2142C= (p.His714=) c.1917C= (p.His639=) c.3012C= (p.His1004=) n.427C= c.1022-1591C= c.*308C= (n.*308C=) n.3951C= n.2552C= c.3063C= (p.His1021=) c.3111C= (p.His1037=) c.3171C= (p.His1057=) c.2721C= (p.His907=) c.1023C= (p.His341=) c.877-1591C= (n.877-1591C=) c.3072C= (p.His1024=) c.3061-1591C= (n.3061-1591C=) c.2793C= (p.His931=) c.2731-1591C= (n.2731-1591C=) c.1875C= (p.His625=) n.3426C= | |
13 | g.51944145G>T | CA220309 | ATP7B | c.*894-1591C>A (n.*894-1591C>A) c.*1951C>A (n.*1951C>A) c.2586C>A (p.His862Gln) c.3207C>A (p.His1069Gln) c.2874C>A (p.His958Gln) c.2955C>A (p.His985Gln) c.2973C>A (p.His991Gln) n.3346C>A n.3570C>A c.2142C>A (p.His714Gln) c.1917C>A (p.His639Gln) c.3012C>A (p.His1004Gln) n.427C>A c.1022-1591C>A c.*308C>A (n.*308C>A) n.3951C>A n.2552C>A c.3063C>A (p.His1021Gln) c.3111C>A (p.His1037Gln) c.3171C>A (p.His1057Gln) c.2721C>A (p.His907Gln) c.1023C>A (p.His341Gln) c.877-1591C>A (n.877-1591C>A) c.3072C>A (p.His1024Gln) c.3061-1591C>A (n.3061-1591C>A) c.2793C>A (p.His931Gln) c.2731-1591C>A (n.2731-1591C>A) c.1875C>A (p.His625Gln) n.3426C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944146T>A | CA388029880 | ATP7B | c.*894-1592A>T (n.*894-1592A>T) c.*1950A>T (n.*1950A>T) c.2585A>T (p.His862Leu) c.3206A>T (p.His1069Leu) c.2873A>T (p.His958Leu) c.2954A>T (p.His985Leu) c.2972A>T (p.His991Leu) n.3345A>T n.3569A>T c.2141A>T (p.His714Leu) c.1916A>T (p.His639Leu) c.3011A>T (p.His1004Leu) n.426A>T c.1022-1592A>T c.*307A>T (n.*307A>T) n.3950A>T n.2551A>T c.3062A>T (p.His1021Leu) c.3110A>T (p.His1037Leu) c.3170A>T (p.His1057Leu) c.2720A>T (p.His907Leu) c.1022A>T (p.His341Leu) c.877-1592A>T (n.877-1592A>T) c.3071A>T (p.His1024Leu) c.3061-1592A>T (n.3061-1592A>T) c.2792A>T (p.His931Leu) c.2731-1592A>T (n.2731-1592A>T) c.1874A>T (p.His625Leu) n.3425A>T | ClinVar |
13 | g.51944146T>C | CA388029883 | ATP7B | c.*894-1592A>G (n.*894-1592A>G) c.*1950A>G (n.*1950A>G) c.2585A>G (p.His862Arg) c.3206A>G (p.His1069Arg) c.2873A>G (p.His958Arg) c.2954A>G (p.His985Arg) c.2972A>G (p.His991Arg) n.3345A>G n.3569A>G c.2141A>G (p.His714Arg) c.1916A>G (p.His639Arg) c.3011A>G (p.His1004Arg) n.426A>G c.1022-1592A>G c.*307A>G (n.*307A>G) n.3950A>G n.2551A>G c.3062A>G (p.His1021Arg) c.3110A>G (p.His1037Arg) c.3170A>G (p.His1057Arg) c.2720A>G (p.His907Arg) c.1022A>G (p.His341Arg) c.877-1592A>G (n.877-1592A>G) c.3071A>G (p.His1024Arg) c.3061-1592A>G (n.3061-1592A>G) c.2792A>G (p.His931Arg) c.2731-1592A>G (n.2731-1592A>G) c.1874A>G (p.His625Arg) n.3425A>G | ClinVar dbSNP |
13 | g.51944146T>G | CA250080070 | ATP7B | c.*894-1592A>C (n.*894-1592A>C) c.*1950A>C (n.*1950A>C) c.2585A>C (p.His862Pro) c.3206A>C (p.His1069Pro) c.2873A>C (p.His958Pro) c.2954A>C (p.His985Pro) c.2972A>C (p.His991Pro) n.3345A>C n.3569A>C c.2141A>C (p.His714Pro) c.1916A>C (p.His639Pro) c.3011A>C (p.His1004Pro) n.426A>C c.1022-1592A>C c.*307A>C (n.*307A>C) n.3950A>C n.2551A>C c.3062A>C (p.His1021Pro) c.3110A>C (p.His1037Pro) c.3170A>C (p.His1057Pro) c.2720A>C (p.His907Pro) c.1022A>C (p.His341Pro) c.877-1592A>C (n.877-1592A>C) c.3071A>C (p.His1024Pro) c.3061-1592A>C (n.3061-1592A>C) c.2792A>C (p.His931Pro) c.2731-1592A>C (n.2731-1592A>C) c.1874A>C (p.His625Pro) n.3425A>C | dbSNP |
13 | g.51944146T= | CA2091563806 | ATP7B | c.*894-1592A= (n.*894-1592A=) c.*1950A= (n.*1950A=) c.2585A= (p.His862=) c.3206A= (p.His1069=) c.2873A= (p.His958=) c.2954A= (p.His985=) c.2972A= (p.His991=) n.3345A= n.3569A= c.2141A= (p.His714=) c.1916A= (p.His639=) c.3011A= (p.His1004=) n.426A= c.1022-1592A= c.*307A= (n.*307A=) n.3950A= n.2551A= c.3062A= (p.His1021=) c.3110A= (p.His1037=) c.3170A= (p.His1057=) c.2720A= (p.His907=) c.1022A= (p.His341=) c.877-1592A= (n.877-1592A=) c.3071A= (p.His1024=) c.3061-1592A= (n.3061-1592A=) c.2792A= (p.His931=) c.2731-1592A= (n.2731-1592A=) c.1874A= (p.His625=) n.3425A= | |
13 | g.51944147G>A | CA250080082 | ATP7B | c.*894-1593C>T (n.*894-1593C>T) c.*1949C>T (n.*1949C>T) c.2584C>T (p.His862Tyr) c.3205C>T (p.His1069Tyr) c.2872C>T (p.His958Tyr) c.2953C>T (p.His985Tyr) c.2971C>T (p.His991Tyr) n.3344C>T n.3568C>T c.2140C>T (p.His714Tyr) c.1915C>T (p.His639Tyr) c.3010C>T (p.His1004Tyr) n.425C>T c.1022-1593C>T c.*306C>T (n.*306C>T) n.3949C>T n.2550C>T c.3061C>T (p.His1021Tyr) c.3109C>T (p.His1037Tyr) c.3169C>T (p.His1057Tyr) c.2719C>T (p.His907Tyr) c.1021C>T (p.His341Tyr) c.877-1593C>T (n.877-1593C>T) c.3070C>T (p.His1024Tyr) c.3061-1593C>T (n.3061-1593C>T) c.2791C>T (p.His931Tyr) c.2731-1593C>T (n.2731-1593C>T) c.1873C>T (p.His625Tyr) n.3424C>T | dbSNP gnomAD v4 |
13 | g.51944147G>C | CA388029888 | ATP7B | c.*894-1593C>G (n.*894-1593C>G) c.*1949C>G (n.*1949C>G) c.2584C>G (p.His862Asp) c.3205C>G (p.His1069Asp) c.2872C>G (p.His958Asp) c.2953C>G (p.His985Asp) c.2971C>G (p.His991Asp) n.3344C>G n.3568C>G c.2140C>G (p.His714Asp) c.1915C>G (p.His639Asp) c.3010C>G (p.His1004Asp) n.425C>G c.1022-1593C>G c.*306C>G (n.*306C>G) n.3949C>G n.2550C>G c.3061C>G (p.His1021Asp) c.3109C>G (p.His1037Asp) c.3169C>G (p.His1057Asp) c.2719C>G (p.His907Asp) c.1021C>G (p.His341Asp) c.877-1593C>G (n.877-1593C>G) c.3070C>G (p.His1024Asp) c.3061-1593C>G (n.3061-1593C>G) c.2791C>G (p.His931Asp) c.2731-1593C>G (n.2731-1593C>G) c.1873C>G (p.His625Asp) n.3424C>G | |
13 | g.51944147G= | CA2091563810 | ATP7B | c.*894-1593C= (n.*894-1593C=) c.*1949C= (n.*1949C=) c.2584C= (p.His862=) c.3205C= (p.His1069=) c.2872C= (p.His958=) c.2953C= (p.His985=) c.2971C= (p.His991=) n.3344C= n.3568C= c.2140C= (p.His714=) c.1915C= (p.His639=) c.3010C= (p.His1004=) n.425C= c.1022-1593C= c.*306C= (n.*306C=) n.3949C= n.2550C= c.3061C= (p.His1021=) c.3109C= (p.His1037=) c.3169C= (p.His1057=) c.2719C= (p.His907=) c.1021C= (p.His341=) c.877-1593C= (n.877-1593C=) c.3070C= (p.His1024=) c.3061-1593C= (n.3061-1593C=) c.2791C= (p.His931=) c.2731-1593C= (n.2731-1593C=) c.1873C= (p.His625=) n.3424C= | |
13 | g.51944147G>T | CA388029895 | ATP7B | c.*894-1593C>A (n.*894-1593C>A) c.*1949C>A (n.*1949C>A) c.2584C>A (p.His862Asn) c.3205C>A (p.His1069Asn) c.2872C>A (p.His958Asn) c.2953C>A (p.His985Asn) c.2971C>A (p.His991Asn) n.3344C>A n.3568C>A c.2140C>A (p.His714Asn) c.1915C>A (p.His639Asn) c.3010C>A (p.His1004Asn) n.425C>A c.1022-1593C>A c.*306C>A (n.*306C>A) n.3949C>A n.2550C>A c.3061C>A (p.His1021Asn) c.3109C>A (p.His1037Asn) c.3169C>A (p.His1057Asn) c.2719C>A (p.His907Asn) c.1021C>A (p.His341Asn) c.877-1593C>A (n.877-1593C>A) c.3070C>A (p.His1024Asn) c.3061-1593C>A (n.3061-1593C>A) c.2791C>A (p.His931Asn) c.2731-1593C>A (n.2731-1593C>A) c.1873C>A (p.His625Asn) n.3424C>A | |
13 | g.51944148T>A | CA388029900 | ATP7B | c.*894-1594A>T (n.*894-1594A>T) c.*1948A>T (n.*1948A>T) c.2583A>T (p.Glu861Asp) c.3204A>T (p.Glu1068Asp) c.2871A>T (p.Glu957Asp) c.2952A>T (p.Glu984Asp) c.2970A>T (p.Glu990Asp) n.3343A>T n.3567A>T c.2139A>T (p.Glu713Asp) c.1914A>T (p.Glu638Asp) c.3009A>T (p.Glu1003Asp) n.424A>T c.1022-1594A>T c.*305A>T (n.*305A>T) n.3948A>T n.2549A>T c.3060A>T (p.Glu1020Asp) c.3108A>T (p.Glu1036Asp) c.3168A>T (p.Glu1056Asp) c.2718A>T (p.Glu906Asp) c.1020A>T (p.Glu340Asp) c.877-1594A>T (n.877-1594A>T) c.3069A>T (p.Glu1023Asp) c.3061-1594A>T (n.3061-1594A>T) c.2790A>T (p.Glu930Asp) c.2731-1594A>T (n.2731-1594A>T) c.1872A>T (p.Glu624Asp) n.3423A>T | |
13 | g.51944148T>C | CA483894652 | ATP7B | c.*894-1594A>G (n.*894-1594A>G) c.*1948A>G (n.*1948A>G) c.2583A>G (p.Glu861=) c.3204A>G (p.Glu1068=) c.2871A>G (p.Glu957=) c.2952A>G (p.Glu984=) c.2970A>G (p.Glu990=) n.3343A>G n.3567A>G c.2139A>G (p.Glu713=) c.1914A>G (p.Glu638=) c.3009A>G (p.Glu1003=) n.424A>G c.1022-1594A>G c.*305A>G (n.*305A>G) n.3948A>G n.2549A>G c.3060A>G (p.Glu1020=) c.3108A>G (p.Glu1036=) c.3168A>G (p.Glu1056=) c.2718A>G (p.Glu906=) c.1020A>G (p.Glu340=) c.877-1594A>G (n.877-1594A>G) c.3069A>G (p.Glu1023=) c.3061-1594A>G (n.3061-1594A>G) c.2790A>G (p.Glu930=) c.2731-1594A>G (n.2731-1594A>G) c.1872A>G (p.Glu624=) n.3423A>G | ClinVar dbSNP |
13 | g.51944148T>G | CA388029898 | ATP7B | c.*894-1594A>C (n.*894-1594A>C) c.*1948A>C (n.*1948A>C) c.2583A>C (p.Glu861Asp) c.3204A>C (p.Glu1068Asp) c.2871A>C (p.Glu957Asp) c.2952A>C (p.Glu984Asp) c.2970A>C (p.Glu990Asp) n.3343A>C n.3567A>C c.2139A>C (p.Glu713Asp) c.1914A>C (p.Glu638Asp) c.3009A>C (p.Glu1003Asp) n.424A>C c.1022-1594A>C c.*305A>C (n.*305A>C) n.3948A>C n.2549A>C c.3060A>C (p.Glu1020Asp) c.3108A>C (p.Glu1036Asp) c.3168A>C (p.Glu1056Asp) c.2718A>C (p.Glu906Asp) c.1020A>C (p.Glu340Asp) c.877-1594A>C (n.877-1594A>C) c.3069A>C (p.Glu1023Asp) c.3061-1594A>C (n.3061-1594A>C) c.2790A>C (p.Glu930Asp) c.2731-1594A>C (n.2731-1594A>C) c.1872A>C (p.Glu624Asp) n.3423A>C | |
13 | g.51944148T= | CA2091563811 | ATP7B | c.*894-1594A= (n.*894-1594A=) c.*1948A= (n.*1948A=) c.2583A= (p.Glu861=) c.3204A= (p.Glu1068=) c.2871A= (p.Glu957=) c.2952A= (p.Glu984=) c.2970A= (p.Glu990=) n.3343A= n.3567A= c.2139A= (p.Glu713=) c.1914A= (p.Glu638=) c.3009A= (p.Glu1003=) n.424A= c.1022-1594A= c.*305A= (n.*305A=) n.3948A= n.2549A= c.3060A= (p.Glu1020=) c.3108A= (p.Glu1036=) c.3168A= (p.Glu1056=) c.2718A= (p.Glu906=) c.1020A= (p.Glu340=) c.877-1594A= (n.877-1594A=) c.3069A= (p.Glu1023=) c.3061-1594A= (n.3061-1594A=) c.2790A= (p.Glu930=) c.2731-1594A= (n.2731-1594A=) c.1872A= (p.Glu624=) n.3423A= | |
13 | g.51944149T>A | CA388029901 | ATP7B | c.*894-1595A>T (n.*894-1595A>T) c.*1947A>T (n.*1947A>T) c.2582A>T (p.Glu861Val) c.3203A>T (p.Glu1068Val) c.2870A>T (p.Glu957Val) c.2951A>T (p.Glu984Val) c.2969A>T (p.Glu990Val) n.3342A>T n.3566A>T c.2138A>T (p.Glu713Val) c.1913A>T (p.Glu638Val) c.3008A>T (p.Glu1003Val) n.423A>T c.1022-1595A>T c.*304A>T (n.*304A>T) n.3947A>T n.2548A>T c.3059A>T (p.Glu1020Val) c.3107A>T (p.Glu1036Val) c.3167A>T (p.Glu1056Val) c.2717A>T (p.Glu906Val) c.1019A>T (p.Glu340Val) c.877-1595A>T (n.877-1595A>T) c.3068A>T (p.Glu1023Val) c.3061-1595A>T (n.3061-1595A>T) c.2789A>T (p.Glu930Val) c.2731-1595A>T (n.2731-1595A>T) c.1871A>T (p.Glu624Val) n.3422A>T | |
13 | g.51944149T>C | CA388029904 | ATP7B | c.*894-1595A>G (n.*894-1595A>G) c.*1947A>G (n.*1947A>G) c.2582A>G (p.Glu861Gly) c.3203A>G (p.Glu1068Gly) c.2870A>G (p.Glu957Gly) c.2951A>G (p.Glu984Gly) c.2969A>G (p.Glu990Gly) n.3342A>G n.3566A>G c.2138A>G (p.Glu713Gly) c.1913A>G (p.Glu638Gly) c.3008A>G (p.Glu1003Gly) n.423A>G c.1022-1595A>G c.*304A>G (n.*304A>G) n.3947A>G n.2548A>G c.3059A>G (p.Glu1020Gly) c.3107A>G (p.Glu1036Gly) c.3167A>G (p.Glu1056Gly) c.2717A>G (p.Glu906Gly) c.1019A>G (p.Glu340Gly) c.877-1595A>G (n.877-1595A>G) c.3068A>G (p.Glu1023Gly) c.3061-1595A>G (n.3061-1595A>G) c.2789A>G (p.Glu930Gly) c.2731-1595A>G (n.2731-1595A>G) c.1871A>G (p.Glu624Gly) n.3422A>G | ClinVar dbSNP |
13 | g.51944149T>G | CA388029907 | ATP7B | c.*894-1595A>C (n.*894-1595A>C) c.*1947A>C (n.*1947A>C) c.2582A>C (p.Glu861Ala) c.3203A>C (p.Glu1068Ala) c.2870A>C (p.Glu957Ala) c.2951A>C (p.Glu984Ala) c.2969A>C (p.Glu990Ala) n.3342A>C n.3566A>C c.2138A>C (p.Glu713Ala) c.1913A>C (p.Glu638Ala) c.3008A>C (p.Glu1003Ala) n.423A>C c.1022-1595A>C c.*304A>C (n.*304A>C) n.3947A>C n.2548A>C c.3059A>C (p.Glu1020Ala) c.3107A>C (p.Glu1036Ala) c.3167A>C (p.Glu1056Ala) c.2717A>C (p.Glu906Ala) c.1019A>C (p.Glu340Ala) c.877-1595A>C (n.877-1595A>C) c.3068A>C (p.Glu1023Ala) c.3061-1595A>C (n.3061-1595A>C) c.2789A>C (p.Glu930Ala) c.2731-1595A>C (n.2731-1595A>C) c.1871A>C (p.Glu624Ala) n.3422A>C | |
13 | g.51944149T= | CA2091563814 | ATP7B | c.*894-1595A= (n.*894-1595A=) c.*1947A= (n.*1947A=) c.2582A= (p.Glu861=) c.3203A= (p.Glu1068=) c.2870A= (p.Glu957=) c.2951A= (p.Glu984=) c.2969A= (p.Glu990=) n.3342A= n.3566A= c.2138A= (p.Glu713=) c.1913A= (p.Glu638=) c.3008A= (p.Glu1003=) n.423A= c.1022-1595A= c.*304A= (n.*304A=) n.3947A= n.2548A= c.3059A= (p.Glu1020=) c.3107A= (p.Glu1036=) c.3167A= (p.Glu1056=) c.2717A= (p.Glu906=) c.1019A= (p.Glu340=) c.877-1595A= (n.877-1595A=) c.3068A= (p.Glu1023=) c.3061-1595A= (n.3061-1595A=) c.2789A= (p.Glu930=) c.2731-1595A= (n.2731-1595A=) c.1871A= (p.Glu624=) n.3422A= | |
13 | g.51944150C>A | CA388029909 | ATP7B | c.*894-1596G>T (n.*894-1596G>T) c.*1946G>T (n.*1946G>T) c.2581G>T (p.Glu861Ter) c.3202G>T (p.Glu1068Ter) c.2869G>T (p.Glu957Ter) c.2950G>T (p.Glu984Ter) c.2968G>T (p.Glu990Ter) n.3341G>T n.3565G>T c.2137G>T (p.Glu713Ter) c.1912G>T (p.Glu638Ter) c.3007G>T (p.Glu1003Ter) n.422G>T c.1022-1596G>T c.*303G>T (n.*303G>T) n.3946G>T n.2547G>T c.3058G>T (p.Glu1020Ter) c.3106G>T (p.Glu1036Ter) c.3166G>T (p.Glu1056Ter) c.2716G>T (p.Glu906Ter) c.1018G>T (p.Glu340Ter) c.877-1596G>T (n.877-1596G>T) c.3067G>T (p.Glu1023Ter) c.3061-1596G>T (n.3061-1596G>T) c.2788G>T (p.Glu930Ter) c.2731-1596G>T (n.2731-1596G>T) c.1870G>T (p.Glu624Ter) n.3421G>T | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51944150C= | CA2091563818 | ATP7B | c.*894-1596G= (n.*894-1596G=) c.*1946G= (n.*1946G=) c.2581G= (p.Glu861=) c.3202G= (p.Glu1068=) c.2869G= (p.Glu957=) c.2950G= (p.Glu984=) c.2968G= (p.Glu990=) n.3341G= n.3565G= c.2137G= (p.Glu713=) c.1912G= (p.Glu638=) c.3007G= (p.Glu1003=) n.422G= c.1022-1596G= c.*303G= (n.*303G=) n.3946G= n.2547G= c.3058G= (p.Glu1020=) c.3106G= (p.Glu1036=) c.3166G= (p.Glu1056=) c.2716G= (p.Glu906=) c.1018G= (p.Glu340=) c.877-1596G= (n.877-1596G=) c.3067G= (p.Glu1023=) c.3061-1596G= (n.3061-1596G=) c.2788G= (p.Glu930=) c.2731-1596G= (n.2731-1596G=) c.1870G= (p.Glu624=) n.3421G= | |
13 | g.51944150C>G | CA388029911 | ATP7B | c.*894-1596G>C (n.*894-1596G>C) c.*1946G>C (n.*1946G>C) c.2581G>C (p.Glu861Gln) c.3202G>C (p.Glu1068Gln) c.2869G>C (p.Glu957Gln) c.2950G>C (p.Glu984Gln) c.2968G>C (p.Glu990Gln) n.3341G>C n.3565G>C c.2137G>C (p.Glu713Gln) c.1912G>C (p.Glu638Gln) c.3007G>C (p.Glu1003Gln) n.422G>C c.1022-1596G>C c.*303G>C (n.*303G>C) n.3946G>C n.2547G>C c.3058G>C (p.Glu1020Gln) c.3106G>C (p.Glu1036Gln) c.3166G>C (p.Glu1056Gln) c.2716G>C (p.Glu906Gln) c.1018G>C (p.Glu340Gln) c.877-1596G>C (n.877-1596G>C) c.3067G>C (p.Glu1023Gln) c.3061-1596G>C (n.3061-1596G>C) c.2788G>C (p.Glu930Gln) c.2731-1596G>C (n.2731-1596G>C) c.1870G>C (p.Glu624Gln) n.3421G>C | |
13 | g.51944150C>T | CA388029914 | ATP7B | c.*894-1596G>A (n.*894-1596G>A) c.*1946G>A (n.*1946G>A) c.2581G>A (p.Glu861Lys) c.3202G>A (p.Glu1068Lys) c.2869G>A (p.Glu957Lys) c.2950G>A (p.Glu984Lys) c.2968G>A (p.Glu990Lys) n.3341G>A n.3565G>A c.2137G>A (p.Glu713Lys) c.1912G>A (p.Glu638Lys) c.3007G>A (p.Glu1003Lys) n.422G>A c.1022-1596G>A c.*303G>A (n.*303G>A) n.3946G>A n.2547G>A c.3058G>A (p.Glu1020Lys) c.3106G>A (p.Glu1036Lys) c.3166G>A (p.Glu1056Lys) c.2716G>A (p.Glu906Lys) c.1018G>A (p.Glu340Lys) c.877-1596G>A (n.877-1596G>A) c.3067G>A (p.Glu1023Lys) c.3061-1596G>A (n.3061-1596G>A) c.2788G>A (p.Glu930Lys) c.2731-1596G>A (n.2731-1596G>A) c.1870G>A (p.Glu624Lys) n.3421G>A | |
13 | g.51944151A>C | CA388029915 | ATP7B | c.*894-1597T>G (n.*894-1597T>G) c.*1945T>G (n.*1945T>G) c.2580T>G (p.Ser860Arg) c.3201T>G (p.Ser1067Arg) c.2868T>G (p.Ser956Arg) c.2949T>G (p.Ser983Arg) c.2967T>G (p.Ser989Arg) n.3340T>G n.3564T>G c.2136T>G (p.Ser712Arg) c.1911T>G (p.Ser637Arg) c.3006T>G (p.Ser1002Arg) n.421T>G c.1022-1597T>G c.*302T>G (n.*302T>G) n.3945T>G n.2546T>G c.3057T>G (p.Ser1019Arg) c.3105T>G (p.Ser1035Arg) c.3165T>G (p.Ser1055Arg) c.2715T>G (p.Ser905Arg) c.1017T>G (p.Ser339Arg) c.877-1597T>G (n.877-1597T>G) c.3066T>G (p.Ser1022Arg) c.3061-1597T>G (n.3061-1597T>G) c.2787T>G (p.Ser929Arg) c.2731-1597T>G (n.2731-1597T>G) c.1869T>G (p.Ser623Arg) n.3420T>G | ClinVar dbSNP |
13 | g.51944151A>G | CA483894654 | ATP7B | c.*894-1597T>C (n.*894-1597T>C) c.*1945T>C (n.*1945T>C) c.2580T>C (p.Ser860=) c.3201T>C (p.Ser1067=) c.2868T>C (p.Ser956=) c.2949T>C (p.Ser983=) c.2967T>C (p.Ser989=) n.3340T>C n.3564T>C c.2136T>C (p.Ser712=) c.1911T>C (p.Ser637=) c.3006T>C (p.Ser1002=) n.421T>C c.1022-1597T>C c.*302T>C (n.*302T>C) n.3945T>C n.2546T>C c.3057T>C (p.Ser1019=) c.3105T>C (p.Ser1035=) c.3165T>C (p.Ser1055=) c.2715T>C (p.Ser905=) c.1017T>C (p.Ser339=) c.877-1597T>C (n.877-1597T>C) c.3066T>C (p.Ser1022=) c.3061-1597T>C (n.3061-1597T>C) c.2787T>C (p.Ser929=) c.2731-1597T>C (n.2731-1597T>C) c.1869T>C (p.Ser623=) n.3420T>C | |
13 | g.51944151A>T | CA388029918 | ATP7B | c.*894-1597T>A (n.*894-1597T>A) c.*1945T>A (n.*1945T>A) c.2580T>A (p.Ser860Arg) c.3201T>A (p.Ser1067Arg) c.2868T>A (p.Ser956Arg) c.2949T>A (p.Ser983Arg) c.2967T>A (p.Ser989Arg) n.3340T>A n.3564T>A c.2136T>A (p.Ser712Arg) c.1911T>A (p.Ser637Arg) c.3006T>A (p.Ser1002Arg) n.421T>A c.1022-1597T>A c.*302T>A (n.*302T>A) n.3945T>A n.2546T>A c.3057T>A (p.Ser1019Arg) c.3105T>A (p.Ser1035Arg) c.3165T>A (p.Ser1055Arg) c.2715T>A (p.Ser905Arg) c.1017T>A (p.Ser339Arg) c.877-1597T>A (n.877-1597T>A) c.3066T>A (p.Ser1022Arg) c.3061-1597T>A (n.3061-1597T>A) c.2787T>A (p.Ser929Arg) c.2731-1597T>A (n.2731-1597T>A) c.1869T>A (p.Ser623Arg) n.3420T>A | |
13 | g.51944152C>A | CA388029920 | ATP7B | c.*894-1598G>T (n.*894-1598G>T) c.*1944G>T (n.*1944G>T) c.2579G>T (p.Ser860Ile) c.3200G>T (p.Ser1067Ile) c.2867G>T (p.Ser956Ile) c.2948G>T (p.Ser983Ile) c.2966G>T (p.Ser989Ile) n.3339G>T n.3563G>T c.2135G>T (p.Ser712Ile) c.1910G>T (p.Ser637Ile) c.3005G>T (p.Ser1002Ile) n.420G>T c.1022-1598G>T c.*301G>T (n.*301G>T) n.3944G>T n.2545G>T c.3056G>T (p.Ser1019Ile) c.3104G>T (p.Ser1035Ile) c.3164G>T (p.Ser1055Ile) c.2714G>T (p.Ser905Ile) c.1016G>T (p.Ser339Ile) c.877-1598G>T (n.877-1598G>T) c.3065G>T (p.Ser1022Ile) c.3061-1598G>T (n.3061-1598G>T) c.2786G>T (p.Ser929Ile) c.2731-1598G>T (n.2731-1598G>T) c.1868G>T (p.Ser623Ile) n.3419G>T | |
13 | g.51944152C= | CA2091563821 | ATP7B | c.*894-1598G= (n.*894-1598G=) c.*1944G= (n.*1944G=) c.2579G= (p.Ser860=) c.3200G= (p.Ser1067=) c.2867G= (p.Ser956=) c.2948G= (p.Ser983=) c.2966G= (p.Ser989=) n.3339G= n.3563G= c.2135G= (p.Ser712=) c.1910G= (p.Ser637=) c.3005G= (p.Ser1002=) n.420G= c.1022-1598G= c.*301G= (n.*301G=) n.3944G= n.2545G= c.3056G= (p.Ser1019=) c.3104G= (p.Ser1035=) c.3164G= (p.Ser1055=) c.2714G= (p.Ser905=) c.1016G= (p.Ser339=) c.877-1598G= (n.877-1598G=) c.3065G= (p.Ser1022=) c.3061-1598G= (n.3061-1598G=) c.2786G= (p.Ser929=) c.2731-1598G= (n.2731-1598G=) c.1868G= (p.Ser623=) n.3419G= | |
13 | g.51944152C>G | CA388029922 | ATP7B | c.*894-1598G>C (n.*894-1598G>C) c.*1944G>C (n.*1944G>C) c.2579G>C (p.Ser860Thr) c.3200G>C (p.Ser1067Thr) c.2867G>C (p.Ser956Thr) c.2948G>C (p.Ser983Thr) c.2966G>C (p.Ser989Thr) n.3339G>C n.3563G>C c.2135G>C (p.Ser712Thr) c.1910G>C (p.Ser637Thr) c.3005G>C (p.Ser1002Thr) n.420G>C c.1022-1598G>C c.*301G>C (n.*301G>C) n.3944G>C n.2545G>C c.3056G>C (p.Ser1019Thr) c.3104G>C (p.Ser1035Thr) c.3164G>C (p.Ser1055Thr) c.2714G>C (p.Ser905Thr) c.1016G>C (p.Ser339Thr) c.877-1598G>C (n.877-1598G>C) c.3065G>C (p.Ser1022Thr) c.3061-1598G>C (n.3061-1598G>C) c.2786G>C (p.Ser929Thr) c.2731-1598G>C (n.2731-1598G>C) c.1868G>C (p.Ser623Thr) n.3419G>C | |
13 | g.51944152C>T | CA388029924 | ATP7B | c.*894-1598G>A (n.*894-1598G>A) c.*1944G>A (n.*1944G>A) c.2579G>A (p.Ser860Asn) c.3200G>A (p.Ser1067Asn) c.2867G>A (p.Ser956Asn) c.2948G>A (p.Ser983Asn) c.2966G>A (p.Ser989Asn) n.3339G>A n.3563G>A c.2135G>A (p.Ser712Asn) c.1910G>A (p.Ser637Asn) c.3005G>A (p.Ser1002Asn) n.420G>A c.1022-1598G>A c.*301G>A (n.*301G>A) n.3944G>A n.2545G>A c.3056G>A (p.Ser1019Asn) c.3104G>A (p.Ser1035Asn) c.3164G>A (p.Ser1055Asn) c.2714G>A (p.Ser905Asn) c.1016G>A (p.Ser339Asn) c.877-1598G>A (n.877-1598G>A) c.3065G>A (p.Ser1022Asn) c.3061-1598G>A (n.3061-1598G>A) c.2786G>A (p.Ser929Asn) c.2731-1598G>A (n.2731-1598G>A) c.1868G>A (p.Ser623Asn) n.3419G>A | ClinVar dbSNP gnomAD v4 |
13 | g.51944153T>A | CA388029926 | ATP7B | c.*894-1599A>T (n.*894-1599A>T) c.*1943A>T (n.*1943A>T) c.2578A>T (p.Ser860Cys) c.3199A>T (p.Ser1067Cys) c.2866A>T (p.Ser956Cys) c.2947A>T (p.Ser983Cys) c.2965A>T (p.Ser989Cys) n.3338A>T n.3562A>T c.2134A>T (p.Ser712Cys) c.1909A>T (p.Ser637Cys) c.3004A>T (p.Ser1002Cys) n.419A>T c.1022-1599A>T c.*300A>T (n.*300A>T) n.3943A>T n.2544A>T c.3055A>T (p.Ser1019Cys) c.3103A>T (p.Ser1035Cys) c.3163A>T (p.Ser1055Cys) c.2713A>T (p.Ser905Cys) c.1015A>T (p.Ser339Cys) c.877-1599A>T (n.877-1599A>T) c.3064A>T (p.Ser1022Cys) c.3061-1599A>T (n.3061-1599A>T) c.2785A>T (p.Ser929Cys) c.2731-1599A>T (n.2731-1599A>T) c.1867A>T (p.Ser623Cys) n.3418A>T | |
13 | g.51944153T>C | CA388029927 | ATP7B | c.*894-1599A>G (n.*894-1599A>G) c.*1943A>G (n.*1943A>G) c.2578A>G (p.Ser860Gly) c.3199A>G (p.Ser1067Gly) c.2866A>G (p.Ser956Gly) c.2947A>G (p.Ser983Gly) c.2965A>G (p.Ser989Gly) n.3338A>G n.3562A>G c.2134A>G (p.Ser712Gly) c.1909A>G (p.Ser637Gly) c.3004A>G (p.Ser1002Gly) n.419A>G c.1022-1599A>G c.*300A>G (n.*300A>G) n.3943A>G n.2544A>G c.3055A>G (p.Ser1019Gly) c.3103A>G (p.Ser1035Gly) c.3163A>G (p.Ser1055Gly) c.2713A>G (p.Ser905Gly) c.1015A>G (p.Ser339Gly) c.877-1599A>G (n.877-1599A>G) c.3064A>G (p.Ser1022Gly) c.3061-1599A>G (n.3061-1599A>G) c.2785A>G (p.Ser929Gly) c.2731-1599A>G (n.2731-1599A>G) c.1867A>G (p.Ser623Gly) n.3418A>G | ClinVar |
13 | g.51944153T>G | CA388029928 | ATP7B | c.*894-1599A>C (n.*894-1599A>C) c.*1943A>C (n.*1943A>C) c.2578A>C (p.Ser860Arg) c.3199A>C (p.Ser1067Arg) c.2866A>C (p.Ser956Arg) c.2947A>C (p.Ser983Arg) c.2965A>C (p.Ser989Arg) n.3338A>C n.3562A>C c.2134A>C (p.Ser712Arg) c.1909A>C (p.Ser637Arg) c.3004A>C (p.Ser1002Arg) n.419A>C c.1022-1599A>C c.*300A>C (n.*300A>C) n.3943A>C n.2544A>C c.3055A>C (p.Ser1019Arg) c.3103A>C (p.Ser1035Arg) c.3163A>C (p.Ser1055Arg) c.2713A>C (p.Ser905Arg) c.1015A>C (p.Ser339Arg) c.877-1599A>C (n.877-1599A>C) c.3064A>C (p.Ser1022Arg) c.3061-1599A>C (n.3061-1599A>C) c.2785A>C (p.Ser929Arg) c.2731-1599A>C (n.2731-1599A>C) c.1867A>C (p.Ser623Arg) n.3418A>C | |
13 | g.51944154G>A | CA483894656 | ATP7B | c.*894-1600C>T (n.*894-1600C>T) c.*1942C>T (n.*1942C>T) c.2577C>T (p.Ser859=) c.3198C>T (p.Ser1066=) c.2865C>T (p.Ser955=) c.2946C>T (p.Ser982=) c.2964C>T (p.Ser988=) n.3337C>T n.3561C>T c.2133C>T (p.Ser711=) c.1908C>T (p.Ser636=) c.3003C>T (p.Ser1001=) n.418C>T c.1022-1600C>T c.*299C>T (n.*299C>T) n.3942C>T n.2543C>T c.3054C>T (p.Ser1018=) c.3102C>T (p.Ser1034=) c.3162C>T (p.Ser1054=) c.2712C>T (p.Ser904=) c.1014C>T (p.Ser338=) c.877-1600C>T (n.877-1600C>T) c.3063C>T (p.Ser1021=) c.3061-1600C>T (n.3061-1600C>T) c.2784C>T (p.Ser928=) c.2731-1600C>T (n.2731-1600C>T) c.1866C>T (p.Ser622=) n.3417C>T | |
13 | g.51944154G>C | CA388029932 | ATP7B | c.*894-1600C>G (n.*894-1600C>G) c.*1942C>G (n.*1942C>G) c.2577C>G (p.Ser859Arg) c.3198C>G (p.Ser1066Arg) c.2865C>G (p.Ser955Arg) c.2946C>G (p.Ser982Arg) c.2964C>G (p.Ser988Arg) n.3337C>G n.3561C>G c.2133C>G (p.Ser711Arg) c.1908C>G (p.Ser636Arg) c.3003C>G (p.Ser1001Arg) n.418C>G c.1022-1600C>G c.*299C>G (n.*299C>G) n.3942C>G n.2543C>G c.3054C>G (p.Ser1018Arg) c.3102C>G (p.Ser1034Arg) c.3162C>G (p.Ser1054Arg) c.2712C>G (p.Ser904Arg) c.1014C>G (p.Ser338Arg) c.877-1600C>G (n.877-1600C>G) c.3063C>G (p.Ser1021Arg) c.3061-1600C>G (n.3061-1600C>G) c.2784C>G (p.Ser928Arg) c.2731-1600C>G (n.2731-1600C>G) c.1866C>G (p.Ser622Arg) n.3417C>G | |
13 | g.51944154G>T | CA388029929 | ATP7B | c.*894-1600C>A (n.*894-1600C>A) c.*1942C>A (n.*1942C>A) c.2577C>A (p.Ser859Arg) c.3198C>A (p.Ser1066Arg) c.2865C>A (p.Ser955Arg) c.2946C>A (p.Ser982Arg) c.2964C>A (p.Ser988Arg) n.3337C>A n.3561C>A c.2133C>A (p.Ser711Arg) c.1908C>A (p.Ser636Arg) c.3003C>A (p.Ser1001Arg) n.418C>A c.1022-1600C>A c.*299C>A (n.*299C>A) n.3942C>A n.2543C>A c.3054C>A (p.Ser1018Arg) c.3102C>A (p.Ser1034Arg) c.3162C>A (p.Ser1054Arg) c.2712C>A (p.Ser904Arg) c.1014C>A (p.Ser338Arg) c.877-1600C>A (n.877-1600C>A) c.3063C>A (p.Ser1021Arg) c.3061-1600C>A (n.3061-1600C>A) c.2784C>A (p.Ser928Arg) c.2731-1600C>A (n.2731-1600C>A) c.1866C>A (p.Ser622Arg) n.3417C>A | |
13 | g.51944155C>A | CA388029934 | ATP7B | c.*894-1601G>T (n.*894-1601G>T) c.*1941G>T (n.*1941G>T) c.2576G>T (p.Ser859Ile) c.3197G>T (p.Ser1066Ile) c.2864G>T (p.Ser955Ile) c.2945G>T (p.Ser982Ile) c.2963G>T (p.Ser988Ile) n.3336G>T n.3560G>T c.2132G>T (p.Ser711Ile) c.1907G>T (p.Ser636Ile) c.3002G>T (p.Ser1001Ile) n.417G>T c.1022-1601G>T c.*298G>T (n.*298G>T) n.3941G>T n.2542G>T c.3053G>T (p.Ser1018Ile) c.3101G>T (p.Ser1034Ile) c.3161G>T (p.Ser1054Ile) c.2711G>T (p.Ser904Ile) c.1013G>T (p.Ser338Ile) c.877-1601G>T (n.877-1601G>T) c.3062G>T (p.Ser1021Ile) c.3061-1601G>T (n.3061-1601G>T) c.2783G>T (p.Ser928Ile) c.2731-1601G>T (n.2731-1601G>T) c.1865G>T (p.Ser622Ile) n.3416G>T | |
13 | g.51944155C= | CA2091563824 | ATP7B | c.*894-1601G= (n.*894-1601G=) c.*1941G= (n.*1941G=) c.2576G= (p.Ser859=) c.3197G= (p.Ser1066=) c.2864G= (p.Ser955=) c.2945G= (p.Ser982=) c.2963G= (p.Ser988=) n.3336G= n.3560G= c.2132G= (p.Ser711=) c.1907G= (p.Ser636=) c.3002G= (p.Ser1001=) n.417G= c.1022-1601G= c.*298G= (n.*298G=) n.3941G= n.2542G= c.3053G= (p.Ser1018=) c.3101G= (p.Ser1034=) c.3161G= (p.Ser1054=) c.2711G= (p.Ser904=) c.1013G= (p.Ser338=) c.877-1601G= (n.877-1601G=) c.3062G= (p.Ser1021=) c.3061-1601G= (n.3061-1601G=) c.2783G= (p.Ser928=) c.2731-1601G= (n.2731-1601G=) c.1865G= (p.Ser622=) n.3416G= | |
13 | g.51944155C>G | CA388029936 | ATP7B | c.*894-1601G>C (n.*894-1601G>C) c.*1941G>C (n.*1941G>C) c.2576G>C (p.Ser859Thr) c.3197G>C (p.Ser1066Thr) c.2864G>C (p.Ser955Thr) c.2945G>C (p.Ser982Thr) c.2963G>C (p.Ser988Thr) n.3336G>C n.3560G>C c.2132G>C (p.Ser711Thr) c.1907G>C (p.Ser636Thr) c.3002G>C (p.Ser1001Thr) n.417G>C c.1022-1601G>C c.*298G>C (n.*298G>C) n.3941G>C n.2542G>C c.3053G>C (p.Ser1018Thr) c.3101G>C (p.Ser1034Thr) c.3161G>C (p.Ser1054Thr) c.2711G>C (p.Ser904Thr) c.1013G>C (p.Ser338Thr) c.877-1601G>C (n.877-1601G>C) c.3062G>C (p.Ser1021Thr) c.3061-1601G>C (n.3061-1601G>C) c.2783G>C (p.Ser928Thr) c.2731-1601G>C (n.2731-1601G>C) c.1865G>C (p.Ser622Thr) n.3416G>C | |
13 | g.51944155C>T | CA388029939 | ATP7B | c.*894-1601G>A (n.*894-1601G>A) c.*1941G>A (n.*1941G>A) c.2576G>A (p.Ser859Asn) c.3197G>A (p.Ser1066Asn) c.2864G>A (p.Ser955Asn) c.2945G>A (p.Ser982Asn) c.2963G>A (p.Ser988Asn) n.3336G>A n.3560G>A c.2132G>A (p.Ser711Asn) c.1907G>A (p.Ser636Asn) c.3002G>A (p.Ser1001Asn) n.417G>A c.1022-1601G>A c.*298G>A (n.*298G>A) n.3941G>A n.2542G>A c.3053G>A (p.Ser1018Asn) c.3101G>A (p.Ser1034Asn) c.3161G>A (p.Ser1054Asn) c.2711G>A (p.Ser904Asn) c.1013G>A (p.Ser338Asn) c.877-1601G>A (n.877-1601G>A) c.3062G>A (p.Ser1021Asn) c.3061-1601G>A (n.3061-1601G>A) c.2783G>A (p.Ser928Asn) c.2731-1601G>A (n.2731-1601G>A) c.1865G>A (p.Ser622Asn) n.3416G>A | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51944156T>A | CA388029942 | ATP7B | c.*894-1602A>T (n.*894-1602A>T) c.*1940A>T (n.*1940A>T) c.2575A>T (p.Ser859Cys) c.3196A>T (p.Ser1066Cys) c.2863A>T (p.Ser955Cys) c.2944A>T (p.Ser982Cys) c.2962A>T (p.Ser988Cys) n.3335A>T n.3559A>T c.2131A>T (p.Ser711Cys) c.1906A>T (p.Ser636Cys) c.3001A>T (p.Ser1001Cys) n.416A>T c.1022-1602A>T c.*297A>T (n.*297A>T) n.3940A>T n.2541A>T c.3052A>T (p.Ser1018Cys) c.3100A>T (p.Ser1034Cys) c.3160A>T (p.Ser1054Cys) c.2710A>T (p.Ser904Cys) c.1012A>T (p.Ser338Cys) c.877-1602A>T (n.877-1602A>T) c.3061A>T (p.Ser1021Cys) c.3061-1602A>T (n.3061-1602A>T) c.2782A>T (p.Ser928Cys) c.2731-1602A>T (n.2731-1602A>T) c.1864A>T (p.Ser622Cys) n.3415A>T | |
13 | g.51944156T>C | CA388029944 | ATP7B | c.*894-1602A>G (n.*894-1602A>G) c.*1940A>G (n.*1940A>G) c.2575A>G (p.Ser859Gly) c.3196A>G (p.Ser1066Gly) c.2863A>G (p.Ser955Gly) c.2944A>G (p.Ser982Gly) c.2962A>G (p.Ser988Gly) n.3335A>G n.3559A>G c.2131A>G (p.Ser711Gly) c.1906A>G (p.Ser636Gly) c.3001A>G (p.Ser1001Gly) n.416A>G c.1022-1602A>G c.*297A>G (n.*297A>G) n.3940A>G n.2541A>G c.3052A>G (p.Ser1018Gly) c.3100A>G (p.Ser1034Gly) c.3160A>G (p.Ser1054Gly) c.2710A>G (p.Ser904Gly) c.1012A>G (p.Ser338Gly) c.877-1602A>G (n.877-1602A>G) c.3061A>G (p.Ser1021Gly) c.3061-1602A>G (n.3061-1602A>G) c.2782A>G (p.Ser928Gly) c.2731-1602A>G (n.2731-1602A>G) c.1864A>G (p.Ser622Gly) n.3415A>G | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944156T>G | CA388029946 | ATP7B | c.*894-1602A>C (n.*894-1602A>C) c.*1940A>C (n.*1940A>C) c.2575A>C (p.Ser859Arg) c.3196A>C (p.Ser1066Arg) c.2863A>C (p.Ser955Arg) c.2944A>C (p.Ser982Arg) c.2962A>C (p.Ser988Arg) n.3335A>C n.3559A>C c.2131A>C (p.Ser711Arg) c.1906A>C (p.Ser636Arg) c.3001A>C (p.Ser1001Arg) n.416A>C c.1022-1602A>C c.*297A>C (n.*297A>C) n.3940A>C n.2541A>C c.3052A>C (p.Ser1018Arg) c.3100A>C (p.Ser1034Arg) c.3160A>C (p.Ser1054Arg) c.2710A>C (p.Ser904Arg) c.1012A>C (p.Ser338Arg) c.877-1602A>C (n.877-1602A>C) c.3061A>C (p.Ser1021Arg) c.3061-1602A>C (n.3061-1602A>C) c.2782A>C (p.Ser928Arg) c.2731-1602A>C (n.2731-1602A>C) c.1864A>C (p.Ser622Arg) n.3415A>C | |
13 | g.51944156T= | CA2091563828 | ATP7B | c.*894-1602A= (n.*894-1602A=) c.*1940A= (n.*1940A=) c.2575A= (p.Ser859=) c.3196A= (p.Ser1066=) c.2863A= (p.Ser955=) c.2944A= (p.Ser982=) c.2962A= (p.Ser988=) n.3335A= n.3559A= c.2131A= (p.Ser711=) c.1906A= (p.Ser636=) c.3001A= (p.Ser1001=) n.416A= c.1022-1602A= c.*297A= (n.*297A=) n.3940A= n.2541A= c.3052A= (p.Ser1018=) c.3100A= (p.Ser1034=) c.3160A= (p.Ser1054=) c.2710A= (p.Ser904=) c.1012A= (p.Ser338=) c.877-1602A= (n.877-1602A=) c.3061A= (p.Ser1021=) c.3061-1602A= (n.3061-1602A=) c.2782A= (p.Ser928=) c.2731-1602A= (n.2731-1602A=) c.1864A= (p.Ser622=) n.3415A= | |
13 | g.51944157G>A | CA483894658 | ATP7B | c.*894-1603C>T (n.*894-1603C>T) c.*1939C>T (n.*1939C>T) c.2574C>T (p.Ala858=) c.3195C>T (p.Ala1065=) c.2862C>T (p.Ala954=) c.2943C>T (p.Ala981=) c.2961C>T (p.Ala987=) n.3334C>T n.3558C>T c.2130C>T (p.Ala710=) c.1905C>T (p.Ala635=) c.3000C>T (p.Ala1000=) n.415C>T c.1022-1603C>T c.*296C>T (n.*296C>T) n.3939C>T n.2540C>T c.3051C>T (p.Ala1017=) c.3099C>T (p.Ala1033=) c.3159C>T (p.Ala1053=) c.2709C>T (p.Ala903=) c.1011C>T (p.Ala337=) c.877-1603C>T (n.877-1603C>T) c.3060C>T (p.Ala1020=) c.3061-1603C>T (n.3061-1603C>T) c.2781C>T (p.Ala927=) c.2731-1603C>T (n.2731-1603C>T) c.1863C>T (p.Ala621=) n.3414C>T | |
13 | g.51944157G>C | CA483894659 | ATP7B | c.*894-1603C>G (n.*894-1603C>G) c.*1939C>G (n.*1939C>G) c.2574C>G (p.Ala858=) c.3195C>G (p.Ala1065=) c.2862C>G (p.Ala954=) c.2943C>G (p.Ala981=) c.2961C>G (p.Ala987=) n.3334C>G n.3558C>G c.2130C>G (p.Ala710=) c.1905C>G (p.Ala635=) c.3000C>G (p.Ala1000=) n.415C>G c.1022-1603C>G c.*296C>G (n.*296C>G) n.3939C>G n.2540C>G c.3051C>G (p.Ala1017=) c.3099C>G (p.Ala1033=) c.3159C>G (p.Ala1053=) c.2709C>G (p.Ala903=) c.1011C>G (p.Ala337=) c.877-1603C>G (n.877-1603C>G) c.3060C>G (p.Ala1020=) c.3061-1603C>G (n.3061-1603C>G) c.2781C>G (p.Ala927=) c.2731-1603C>G (n.2731-1603C>G) c.1863C>G (p.Ala621=) n.3414C>G | |
13 | g.51944157G>T | CA483894660 | ATP7B | c.*894-1603C>A (n.*894-1603C>A) c.*1939C>A (n.*1939C>A) c.2574C>A (p.Ala858=) c.3195C>A (p.Ala1065=) c.2862C>A (p.Ala954=) c.2943C>A (p.Ala981=) c.2961C>A (p.Ala987=) n.3334C>A n.3558C>A c.2130C>A (p.Ala710=) c.1905C>A (p.Ala635=) c.3000C>A (p.Ala1000=) n.415C>A c.1022-1603C>A c.*296C>A (n.*296C>A) n.3939C>A n.2540C>A c.3051C>A (p.Ala1017=) c.3099C>A (p.Ala1033=) c.3159C>A (p.Ala1053=) c.2709C>A (p.Ala903=) c.1011C>A (p.Ala337=) c.877-1603C>A (n.877-1603C>A) c.3060C>A (p.Ala1020=) c.3061-1603C>A (n.3061-1603C>A) c.2781C>A (p.Ala927=) c.2731-1603C>A (n.2731-1603C>A) c.1863C>A (p.Ala621=) n.3414C>A | |
13 | g.51944158G>A | CA388029954 | ATP7B | c.*894-1604C>T (n.*894-1604C>T) c.*1938C>T (n.*1938C>T) c.2573C>T (p.Ala858Val) c.3194C>T (p.Ala1065Val) c.2861C>T (p.Ala954Val) c.2942C>T (p.Ala981Val) c.2960C>T (p.Ala987Val) n.3333C>T n.3557C>T c.2129C>T (p.Ala710Val) c.1904C>T (p.Ala635Val) c.2999C>T (p.Ala1000Val) n.414C>T c.1022-1604C>T c.*295C>T (n.*295C>T) n.3938C>T n.2539C>T c.3050C>T (p.Ala1017Val) c.3098C>T (p.Ala1033Val) c.3158C>T (p.Ala1053Val) c.2708C>T (p.Ala903Val) c.1010C>T (p.Ala337Val) c.877-1604C>T (n.877-1604C>T) c.3059C>T (p.Ala1020Val) c.3061-1604C>T (n.3061-1604C>T) c.2780C>T (p.Ala927Val) c.2731-1604C>T (n.2731-1604C>T) c.1862C>T (p.Ala621Val) n.3413C>T | gnomAD v4 |
13 | g.51944158G>C | CA388029949 | ATP7B | c.*894-1604C>G (n.*894-1604C>G) c.*1938C>G (n.*1938C>G) c.2573C>G (p.Ala858Gly) c.3194C>G (p.Ala1065Gly) c.2861C>G (p.Ala954Gly) c.2942C>G (p.Ala981Gly) c.2960C>G (p.Ala987Gly) n.3333C>G n.3557C>G c.2129C>G (p.Ala710Gly) c.1904C>G (p.Ala635Gly) c.2999C>G (p.Ala1000Gly) n.414C>G c.1022-1604C>G c.*295C>G (n.*295C>G) n.3938C>G n.2539C>G c.3050C>G (p.Ala1017Gly) c.3098C>G (p.Ala1033Gly) c.3158C>G (p.Ala1053Gly) c.2708C>G (p.Ala903Gly) c.1010C>G (p.Ala337Gly) c.877-1604C>G (n.877-1604C>G) c.3059C>G (p.Ala1020Gly) c.3061-1604C>G (n.3061-1604C>G) c.2780C>G (p.Ala927Gly) c.2731-1604C>G (n.2731-1604C>G) c.1862C>G (p.Ala621Gly) n.3413C>G | |
13 | g.51944158G>T | CA388029952 | ATP7B | c.*894-1604C>A (n.*894-1604C>A) c.*1938C>A (n.*1938C>A) c.2573C>A (p.Ala858Asp) c.3194C>A (p.Ala1065Asp) c.2861C>A (p.Ala954Asp) c.2942C>A (p.Ala981Asp) c.2960C>A (p.Ala987Asp) n.3333C>A n.3557C>A c.2129C>A (p.Ala710Asp) c.1904C>A (p.Ala635Asp) c.2999C>A (p.Ala1000Asp) n.414C>A c.1022-1604C>A c.*295C>A (n.*295C>A) n.3938C>A n.2539C>A c.3050C>A (p.Ala1017Asp) c.3098C>A (p.Ala1033Asp) c.3158C>A (p.Ala1053Asp) c.2708C>A (p.Ala903Asp) c.1010C>A (p.Ala337Asp) c.877-1604C>A (n.877-1604C>A) c.3059C>A (p.Ala1020Asp) c.3061-1604C>A (n.3061-1604C>A) c.2780C>A (p.Ala927Asp) c.2731-1604C>A (n.2731-1604C>A) c.1862C>A (p.Ala621Asp) n.3413C>A | COSMIC |
13 | g.51944159C>A | CA388029957 | ATP7B | c.*894-1605G>T (n.*894-1605G>T) c.*1937G>T (n.*1937G>T) c.2572G>T (p.Ala858Ser) c.3193G>T (p.Ala1065Ser) c.2860G>T (p.Ala954Ser) c.2941G>T (p.Ala981Ser) c.2959G>T (p.Ala987Ser) n.3332G>T n.3556G>T c.2128G>T (p.Ala710Ser) c.1903G>T (p.Ala635Ser) c.2998G>T (p.Ala1000Ser) n.413G>T c.1022-1605G>T c.*294G>T (n.*294G>T) n.3937G>T n.2538G>T c.3049G>T (p.Ala1017Ser) c.3097G>T (p.Ala1033Ser) c.3157G>T (p.Ala1053Ser) c.2707G>T (p.Ala903Ser) c.1009G>T (p.Ala337Ser) c.877-1605G>T (n.877-1605G>T) c.3058G>T (p.Ala1020Ser) c.3061-1605G>T (n.3061-1605G>T) c.2779G>T (p.Ala927Ser) c.2731-1605G>T (n.2731-1605G>T) c.1861G>T (p.Ala621Ser) n.3412G>T | |
13 | g.51944159C>G | CA388029958 | ATP7B | c.*894-1605G>C (n.*894-1605G>C) c.*1937G>C (n.*1937G>C) c.2572G>C (p.Ala858Pro) c.3193G>C (p.Ala1065Pro) c.2860G>C (p.Ala954Pro) c.2941G>C (p.Ala981Pro) c.2959G>C (p.Ala987Pro) n.3332G>C n.3556G>C c.2128G>C (p.Ala710Pro) c.1903G>C (p.Ala635Pro) c.2998G>C (p.Ala1000Pro) n.413G>C c.1022-1605G>C c.*294G>C (n.*294G>C) n.3937G>C n.2538G>C c.3049G>C (p.Ala1017Pro) c.3097G>C (p.Ala1033Pro) c.3157G>C (p.Ala1053Pro) c.2707G>C (p.Ala903Pro) c.1009G>C (p.Ala337Pro) c.877-1605G>C (n.877-1605G>C) c.3058G>C (p.Ala1020Pro) c.3061-1605G>C (n.3061-1605G>C) c.2779G>C (p.Ala927Pro) c.2731-1605G>C (n.2731-1605G>C) c.1861G>C (p.Ala621Pro) n.3412G>C | |
13 | g.51944159C>T | CA388029959 | ATP7B | c.*894-1605G>A (n.*894-1605G>A) c.*1937G>A (n.*1937G>A) c.2572G>A (p.Ala858Thr) c.3193G>A (p.Ala1065Thr) c.2860G>A (p.Ala954Thr) c.2941G>A (p.Ala981Thr) c.2959G>A (p.Ala987Thr) n.3332G>A n.3556G>A c.2128G>A (p.Ala710Thr) c.1903G>A (p.Ala635Thr) c.2998G>A (p.Ala1000Thr) n.413G>A c.1022-1605G>A c.*294G>A (n.*294G>A) n.3937G>A n.2538G>A c.3049G>A (p.Ala1017Thr) c.3097G>A (p.Ala1033Thr) c.3157G>A (p.Ala1053Thr) c.2707G>A (p.Ala903Thr) c.1009G>A (p.Ala337Thr) c.877-1605G>A (n.877-1605G>A) c.3058G>A (p.Ala1020Thr) c.3061-1605G>A (n.3061-1605G>A) c.2779G>A (p.Ala927Thr) c.2731-1605G>A (n.2731-1605G>A) c.1861G>A (p.Ala621Thr) n.3412G>A | |
13 | g.51944160C>A | CA388029961 | ATP7B | c.*894-1606G>T (n.*894-1606G>T) c.*1936G>T (n.*1936G>T) c.2571G>T (p.Glu857Asp) c.3192G>T (p.Glu1064Asp) c.2859G>T (p.Glu953Asp) c.2940G>T (p.Glu980Asp) c.2958G>T (p.Glu986Asp) n.3331G>T n.3555G>T c.2127G>T (p.Glu709Asp) c.1902G>T (p.Glu634Asp) c.2997G>T (p.Glu999Asp) n.412G>T c.1022-1606G>T c.*293G>T (n.*293G>T) n.3936G>T n.2537G>T c.3048G>T (p.Glu1016Asp) c.3096G>T (p.Glu1032Asp) c.3156G>T (p.Glu1052Asp) c.2706G>T (p.Glu902Asp) c.1008G>T (p.Glu336Asp) c.877-1606G>T (n.877-1606G>T) c.3057G>T (p.Glu1019Asp) c.3061-1606G>T (n.3061-1606G>T) c.2778G>T (p.Glu926Asp) c.2731-1606G>T (n.2731-1606G>T) c.1860G>T (p.Glu620Asp) n.3411G>T | |
13 | g.51944160C>G | CA388029963 | ATP7B | c.*894-1606G>C (n.*894-1606G>C) c.*1936G>C (n.*1936G>C) c.2571G>C (p.Glu857Asp) c.3192G>C (p.Glu1064Asp) c.2859G>C (p.Glu953Asp) c.2940G>C (p.Glu980Asp) c.2958G>C (p.Glu986Asp) n.3331G>C n.3555G>C c.2127G>C (p.Glu709Asp) c.1902G>C (p.Glu634Asp) c.2997G>C (p.Glu999Asp) n.412G>C c.1022-1606G>C c.*293G>C (n.*293G>C) n.3936G>C n.2537G>C c.3048G>C (p.Glu1016Asp) c.3096G>C (p.Glu1032Asp) c.3156G>C (p.Glu1052Asp) c.2706G>C (p.Glu902Asp) c.1008G>C (p.Glu336Asp) c.877-1606G>C (n.877-1606G>C) c.3057G>C (p.Glu1019Asp) c.3061-1606G>C (n.3061-1606G>C) c.2778G>C (p.Glu926Asp) c.2731-1606G>C (n.2731-1606G>C) c.1860G>C (p.Glu620Asp) n.3411G>C | |
13 | g.51944160C>T | CA483894662 | ATP7B | c.*894-1606G>A (n.*894-1606G>A) c.*1936G>A (n.*1936G>A) c.2571G>A (p.Glu857=) c.3192G>A (p.Glu1064=) c.2859G>A (p.Glu953=) c.2940G>A (p.Glu980=) c.2958G>A (p.Glu986=) n.3331G>A n.3555G>A c.2127G>A (p.Glu709=) c.1902G>A (p.Glu634=) c.2997G>A (p.Glu999=) n.412G>A c.1022-1606G>A c.*293G>A (n.*293G>A) n.3936G>A n.2537G>A c.3048G>A (p.Glu1016=) c.3096G>A (p.Glu1032=) c.3156G>A (p.Glu1052=) c.2706G>A (p.Glu902=) c.1008G>A (p.Glu336=) c.877-1606G>A (n.877-1606G>A) c.3057G>A (p.Glu1019=) c.3061-1606G>A (n.3061-1606G>A) c.2778G>A (p.Glu926=) c.2731-1606G>A (n.2731-1606G>A) c.1860G>A (p.Glu620=) n.3411G>A | gnomAD v4 |
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 |
13 | g.51944173A>T | CA388030019 | ATP7B | c.*894-1619T>A (n.*894-1619T>A) c.*1923T>A (n.*1923T>A) c.2558T>A (p.Val853Glu) c.3179T>A (p.Val1060Glu) c.2846T>A (p.Val949Glu) c.2927T>A (p.Val976Glu) c.2945T>A (p.Val982Glu) n.3318T>A n.3542T>A c.2114T>A (p.Val705Glu) c.1889T>A (p.Val630Glu) c.2984T>A (p.Val995Glu) n.399T>A c.1022-1619T>A c.*280T>A (n.*280T>A) n.3923T>A n.2524T>A c.3035T>A (p.Val1012Glu) c.3083T>A (p.Val1028Glu) c.3143T>A (p.Val1048Glu) c.2693T>A (p.Val898Glu) c.995T>A (p.Val332Glu) c.877-1619T>A (n.877-1619T>A) c.3044T>A (p.Val1015Glu) c.3061-1619T>A (n.3061-1619T>A) c.2765T>A (p.Val922Glu) c.2731-1619T>A (n.2731-1619T>A) c.1847T>A (p.Val616Glu) n.3398T>A | |
13 | g.51944174C>A | CA388030025 | ATP7B | c.*894-1620G>T (n.*894-1620G>T) c.*1922G>T (n.*1922G>T) c.2557G>T (p.Val853Leu) c.3178G>T (p.Val1060Leu) c.2845G>T (p.Val949Leu) c.2926G>T (p.Val976Leu) c.2944G>T (p.Val982Leu) n.3317G>T n.3541G>T c.2113G>T (p.Val705Leu) c.1888G>T (p.Val630Leu) c.2983G>T (p.Val995Leu) n.398G>T c.1022-1620G>T c.*279G>T (n.*279G>T) n.3922G>T n.2523G>T c.3034G>T (p.Val1012Leu) c.3082G>T (p.Val1028Leu) c.3142G>T (p.Val1048Leu) c.2692G>T (p.Val898Leu) c.994G>T (p.Val332Leu) c.877-1620G>T (n.877-1620G>T) c.3043G>T (p.Val1015Leu) c.3061-1620G>T (n.3061-1620G>T) c.2764G>T (p.Val922Leu) c.2731-1620G>T (n.2731-1620G>T) c.1846G>T (p.Val616Leu) n.3397G>T | ClinVar |
13 | g.51944174C= | CA2091563886 | ATP7B | c.*894-1620G= (n.*894-1620G=) c.*1922G= (n.*1922G=) c.2557G= (p.Val853=) c.3178G= (p.Val1060=) c.2845G= (p.Val949=) c.2926G= (p.Val976=) c.2944G= (p.Val982=) n.3317G= n.3541G= c.2113G= (p.Val705=) c.1888G= (p.Val630=) c.2983G= (p.Val995=) n.398G= c.1022-1620G= c.*279G= (n.*279G=) n.3922G= n.2523G= c.3034G= (p.Val1012=) c.3082G= (p.Val1028=) c.3142G= (p.Val1048=) c.2692G= (p.Val898=) c.994G= (p.Val332=) c.877-1620G= (n.877-1620G=) c.3043G= (p.Val1015=) c.3061-1620G= (n.3061-1620G=) c.2764G= (p.Val922=) c.2731-1620G= (n.2731-1620G=) c.1846G= (p.Val616=) n.3397G= | |
13 | g.51944174C>G | CA388030022 | ATP7B | c.*894-1620G>C (n.*894-1620G>C) c.*1922G>C (n.*1922G>C) c.2557G>C (p.Val853Leu) c.3178G>C (p.Val1060Leu) c.2845G>C (p.Val949Leu) c.2926G>C (p.Val976Leu) c.2944G>C (p.Val982Leu) n.3317G>C n.3541G>C c.2113G>C (p.Val705Leu) c.1888G>C (p.Val630Leu) c.2983G>C (p.Val995Leu) n.398G>C c.1022-1620G>C c.*279G>C (n.*279G>C) n.3922G>C n.2523G>C c.3034G>C (p.Val1012Leu) c.3082G>C (p.Val1028Leu) c.3142G>C (p.Val1048Leu) c.2692G>C (p.Val898Leu) c.994G>C (p.Val332Leu) c.877-1620G>C (n.877-1620G>C) c.3043G>C (p.Val1015Leu) c.3061-1620G>C (n.3061-1620G>C) c.2764G>C (p.Val922Leu) c.2731-1620G>C (n.2731-1620G>C) c.1846G>C (p.Val616Leu) n.3397G>C | |
13 | g.51944174C>T | CA388030020 | ATP7B | c.*894-1620G>A (n.*894-1620G>A) c.*1922G>A (n.*1922G>A) c.2557G>A (p.Val853Met) c.3178G>A (p.Val1060Met) c.2845G>A (p.Val949Met) c.2926G>A (p.Val976Met) c.2944G>A (p.Val982Met) n.3317G>A n.3541G>A c.2113G>A (p.Val705Met) c.1888G>A (p.Val630Met) c.2983G>A (p.Val995Met) n.398G>A c.1022-1620G>A c.*279G>A (n.*279G>A) n.3922G>A n.2523G>A c.3034G>A (p.Val1012Met) c.3082G>A (p.Val1028Met) c.3142G>A (p.Val1048Met) c.2692G>A (p.Val898Met) c.994G>A (p.Val332Met) c.877-1620G>A (n.877-1620G>A) c.3043G>A (p.Val1015Met) c.3061-1620G>A (n.3061-1620G>A) c.2764G>A (p.Val922Met) c.2731-1620G>A (n.2731-1620G>A) c.1846G>A (p.Val616Met) n.3397G>A | dbSNP gnomAD v4 |
13 | g.51944175C>A | CA483894684 | ATP7B | c.*894-1621G>T (n.*894-1621G>T) c.*1921G>T (n.*1921G>T) c.2556G>T (p.Val852=) c.3177G>T (p.Val1059=) c.2844G>T (p.Val948=) c.2925G>T (p.Val975=) c.2943G>T (p.Val981=) n.3316G>T n.3540G>T c.2112G>T (p.Val704=) c.1887G>T (p.Val629=) c.2982G>T (p.Val994=) n.397G>T c.1022-1621G>T c.*278G>T (n.*278G>T) n.3921G>T n.2522G>T c.3033G>T (p.Val1011=) c.3081G>T (p.Val1027=) c.3141G>T (p.Val1047=) c.2691G>T (p.Val897=) c.993G>T (p.Val331=) c.877-1621G>T (n.877-1621G>T) c.3042G>T (p.Val1014=) c.3061-1621G>T (n.3061-1621G>T) c.2763G>T (p.Val921=) c.2731-1621G>T (n.2731-1621G>T) c.1845G>T (p.Val615=) n.3396G>T | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51944175C= | CA2091563890 | ATP7B | c.*894-1621G= (n.*894-1621G=) c.*1921G= (n.*1921G=) c.2556G= (p.Val852=) c.3177G= (p.Val1059=) c.2844G= (p.Val948=) c.2925G= (p.Val975=) c.2943G= (p.Val981=) n.3316G= n.3540G= c.2112G= (p.Val704=) c.1887G= (p.Val629=) c.2982G= (p.Val994=) n.397G= c.1022-1621G= c.*278G= (n.*278G=) n.3921G= n.2522G= c.3033G= (p.Val1011=) c.3081G= (p.Val1027=) c.3141G= (p.Val1047=) c.2691G= (p.Val897=) c.993G= (p.Val331=) c.877-1621G= (n.877-1621G=) c.3042G= (p.Val1014=) c.3061-1621G= (n.3061-1621G=) c.2763G= (p.Val921=) c.2731-1621G= (n.2731-1621G=) c.1845G= (p.Val615=) n.3396G= | |
13 | g.51944175C>G | CA6988788 | ATP7B | c.*894-1621G>C (n.*894-1621G>C) c.*1921G>C (n.*1921G>C) c.2556G>C (p.Val852=) c.3177G>C (p.Val1059=) c.2844G>C (p.Val948=) c.2925G>C (p.Val975=) c.2943G>C (p.Val981=) n.3316G>C n.3540G>C c.2112G>C (p.Val704=) c.1887G>C (p.Val629=) c.2982G>C (p.Val994=) n.397G>C c.1022-1621G>C c.*278G>C (n.*278G>C) n.3921G>C n.2522G>C c.3033G>C (p.Val1011=) c.3081G>C (p.Val1027=) c.3141G>C (p.Val1047=) c.2691G>C (p.Val897=) c.993G>C (p.Val331=) c.877-1621G>C (n.877-1621G>C) c.3042G>C (p.Val1014=) c.3061-1621G>C (n.3061-1621G>C) c.2763G>C (p.Val921=) c.2731-1621G>C (n.2731-1621G>C) c.1845G>C (p.Val615=) n.3396G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944175C>T | CA483894685 | ATP7B | c.*894-1621G>A (n.*894-1621G>A) c.*1921G>A (n.*1921G>A) c.2556G>A (p.Val852=) c.3177G>A (p.Val1059=) c.2844G>A (p.Val948=) c.2925G>A (p.Val975=) c.2943G>A (p.Val981=) n.3316G>A n.3540G>A c.2112G>A (p.Val704=) c.1887G>A (p.Val629=) c.2982G>A (p.Val994=) n.397G>A c.1022-1621G>A c.*278G>A (n.*278G>A) n.3921G>A n.2522G>A c.3033G>A (p.Val1011=) c.3081G>A (p.Val1027=) c.3141G>A (p.Val1047=) c.2691G>A (p.Val897=) c.993G>A (p.Val331=) c.877-1621G>A (n.877-1621G>A) c.3042G>A (p.Val1014=) c.3061-1621G>A (n.3061-1621G>A) c.2763G>A (p.Val921=) c.2731-1621G>A (n.2731-1621G>A) c.1845G>A (p.Val615=) n.3396G>A | |
13 | g.51944176A= | CA2091563895 | ATP7B | c.*894-1622T= (n.*894-1622T=) c.*1920T= (n.*1920T=) c.2555T= (p.Val852=) c.3176T= (p.Val1059=) c.2843T= (p.Val948=) c.2924T= (p.Val975=) c.2942T= (p.Val981=) n.3315T= n.3539T= c.2111T= (p.Val704=) c.1886T= (p.Val629=) c.2981T= (p.Val994=) n.396T= c.1022-1622T= c.*277T= (n.*277T=) n.3920T= n.2521T= c.3032T= (p.Val1011=) c.3080T= (p.Val1027=) c.3140T= (p.Val1047=) c.2690T= (p.Val897=) c.992T= (p.Val331=) c.877-1622T= (n.877-1622T=) c.3041T= (p.Val1014=) c.3061-1622T= (n.3061-1622T=) c.2762T= (p.Val921=) c.2731-1622T= (n.2731-1622T=) c.1844T= (p.Val615=) n.3395T= | |
13 | g.51944176A>C | CA388030029 | ATP7B | c.*894-1622T>G (n.*894-1622T>G) c.*1920T>G (n.*1920T>G) c.2555T>G (p.Val852Gly) c.3176T>G (p.Val1059Gly) c.2843T>G (p.Val948Gly) c.2924T>G (p.Val975Gly) c.2942T>G (p.Val981Gly) n.3315T>G n.3539T>G c.2111T>G (p.Val704Gly) c.1886T>G (p.Val629Gly) c.2981T>G (p.Val994Gly) n.396T>G c.1022-1622T>G c.*277T>G (n.*277T>G) n.3920T>G n.2521T>G c.3032T>G (p.Val1011Gly) c.3080T>G (p.Val1027Gly) c.3140T>G (p.Val1047Gly) c.2690T>G (p.Val897Gly) c.992T>G (p.Val331Gly) c.877-1622T>G (n.877-1622T>G) c.3041T>G (p.Val1014Gly) c.3061-1622T>G (n.3061-1622T>G) c.2762T>G (p.Val921Gly) c.2731-1622T>G (n.2731-1622T>G) c.1844T>G (p.Val615Gly) n.3395T>G | dbSNP |
13 | g.51944176A>G | CA388030027 | ATP7B | c.*894-1622T>C (n.*894-1622T>C) c.*1920T>C (n.*1920T>C) c.2555T>C (p.Val852Ala) c.3176T>C (p.Val1059Ala) c.2843T>C (p.Val948Ala) c.2924T>C (p.Val975Ala) c.2942T>C (p.Val981Ala) n.3315T>C n.3539T>C c.2111T>C (p.Val704Ala) c.1886T>C (p.Val629Ala) c.2981T>C (p.Val994Ala) n.396T>C c.1022-1622T>C c.*277T>C (n.*277T>C) n.3920T>C n.2521T>C c.3032T>C (p.Val1011Ala) c.3080T>C (p.Val1027Ala) c.3140T>C (p.Val1047Ala) c.2690T>C (p.Val897Ala) c.992T>C (p.Val331Ala) c.877-1622T>C (n.877-1622T>C) c.3041T>C (p.Val1014Ala) c.3061-1622T>C (n.3061-1622T>C) c.2762T>C (p.Val921Ala) c.2731-1622T>C (n.2731-1622T>C) c.1844T>C (p.Val615Ala) n.3395T>C | |
13 | g.51944176A>T | CA388030030 | ATP7B | c.*894-1622T>A (n.*894-1622T>A) c.*1920T>A (n.*1920T>A) c.2555T>A (p.Val852Glu) c.3176T>A (p.Val1059Glu) c.2843T>A (p.Val948Glu) c.2924T>A (p.Val975Glu) c.2942T>A (p.Val981Glu) n.3315T>A n.3539T>A c.2111T>A (p.Val704Glu) c.1886T>A (p.Val629Glu) c.2981T>A (p.Val994Glu) n.396T>A c.1022-1622T>A c.*277T>A (n.*277T>A) n.3920T>A n.2521T>A c.3032T>A (p.Val1011Glu) c.3080T>A (p.Val1027Glu) c.3140T>A (p.Val1047Glu) c.2690T>A (p.Val897Glu) c.992T>A (p.Val331Glu) c.877-1622T>A (n.877-1622T>A) c.3041T>A (p.Val1014Glu) c.3061-1622T>A (n.3061-1622T>A) c.2762T>A (p.Val921Glu) c.2731-1622T>A (n.2731-1622T>A) c.1844T>A (p.Val615Glu) n.3395T>A | |
13 | g.51944177C>A | CA388030032 | ATP7B | c.*894-1623G>T (n.*894-1623G>T) c.*1919G>T (n.*1919G>T) c.2554G>T (p.Val852Leu) c.3175G>T (p.Val1059Leu) c.2842G>T (p.Val948Leu) c.2923G>T (p.Val975Leu) c.2941G>T (p.Val981Leu) n.3314G>T n.3538G>T c.2110G>T (p.Val704Leu) c.1885G>T (p.Val629Leu) c.2980G>T (p.Val994Leu) n.395G>T c.1022-1623G>T c.*276G>T (n.*276G>T) n.3919G>T n.2520G>T c.3031G>T (p.Val1011Leu) c.3079G>T (p.Val1027Leu) c.3139G>T (p.Val1047Leu) c.2689G>T (p.Val897Leu) c.991G>T (p.Val331Leu) c.877-1623G>T (n.877-1623G>T) c.3040G>T (p.Val1014Leu) c.3061-1623G>T (n.3061-1623G>T) c.2761G>T (p.Val921Leu) c.2731-1623G>T (n.2731-1623G>T) c.1843G>T (p.Val615Leu) n.3394G>T | |
13 | g.51944177C= | CA2091563896 | ATP7B | c.*894-1623G= (n.*894-1623G=) c.*1919G= (n.*1919G=) c.2554G= (p.Val852=) c.3175G= (p.Val1059=) c.2842G= (p.Val948=) c.2923G= (p.Val975=) c.2941G= (p.Val981=) n.3314G= n.3538G= c.2110G= (p.Val704=) c.1885G= (p.Val629=) c.2980G= (p.Val994=) n.395G= c.1022-1623G= c.*276G= (n.*276G=) n.3919G= n.2520G= c.3031G= (p.Val1011=) c.3079G= (p.Val1027=) c.3139G= (p.Val1047=) c.2689G= (p.Val897=) c.991G= (p.Val331=) c.877-1623G= (n.877-1623G=) c.3040G= (p.Val1014=) c.3061-1623G= (n.3061-1623G=) c.2761G= (p.Val921=) c.2731-1623G= (n.2731-1623G=) c.1843G= (p.Val615=) n.3394G= | |
13 | g.51944177C>G | CA388030033 | ATP7B | c.*894-1623G>C (n.*894-1623G>C) c.*1919G>C (n.*1919G>C) c.2554G>C (p.Val852Leu) c.3175G>C (p.Val1059Leu) c.2842G>C (p.Val948Leu) c.2923G>C (p.Val975Leu) c.2941G>C (p.Val981Leu) n.3314G>C n.3538G>C c.2110G>C (p.Val704Leu) c.1885G>C (p.Val629Leu) c.2980G>C (p.Val994Leu) n.395G>C c.1022-1623G>C c.*276G>C (n.*276G>C) n.3919G>C n.2520G>C c.3031G>C (p.Val1011Leu) c.3079G>C (p.Val1027Leu) c.3139G>C (p.Val1047Leu) c.2689G>C (p.Val897Leu) c.991G>C (p.Val331Leu) c.877-1623G>C (n.877-1623G>C) c.3040G>C (p.Val1014Leu) c.3061-1623G>C (n.3061-1623G>C) c.2761G>C (p.Val921Leu) c.2731-1623G>C (n.2731-1623G>C) c.1843G>C (p.Val615Leu) n.3394G>C | dbSNP gnomAD v4 |
13 | g.51944177C>T | CA6988789 | ATP7B | c.*894-1623G>A (n.*894-1623G>A) c.*1919G>A (n.*1919G>A) c.2554G>A (p.Val852Met) c.3175G>A (p.Val1059Met) c.2842G>A (p.Val948Met) c.2923G>A (p.Val975Met) c.2941G>A (p.Val981Met) n.3314G>A n.3538G>A c.2110G>A (p.Val704Met) c.1885G>A (p.Val629Met) c.2980G>A (p.Val994Met) n.395G>A c.1022-1623G>A c.*276G>A (n.*276G>A) n.3919G>A n.2520G>A c.3031G>A (p.Val1011Met) c.3079G>A (p.Val1027Met) c.3139G>A (p.Val1047Met) c.2689G>A (p.Val897Met) c.991G>A (p.Val331Met) c.877-1623G>A (n.877-1623G>A) c.3040G>A (p.Val1014Met) c.3061-1623G>A (n.3061-1623G>A) c.2761G>A (p.Val921Met) c.2731-1623G>A (n.2731-1623G>A) c.1843G>A (p.Val615Met) n.3394G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944178A>C | CA483894689 | ATP7B | c.*894-1624T>G (n.*894-1624T>G) c.*1918T>G (n.*1918T>G) c.2553T>G (p.Ala851=) c.3174T>G (p.Ala1058=) c.2841T>G (p.Ala947=) c.2922T>G (p.Ala974=) c.2940T>G (p.Ala980=) n.3313T>G n.3537T>G c.2109T>G (p.Ala703=) c.1884T>G (p.Ala628=) c.2979T>G (p.Ala993=) n.394T>G c.1022-1624T>G c.*275T>G (n.*275T>G) n.3918T>G n.2519T>G c.3030T>G (p.Ala1010=) c.3078T>G (p.Ala1026=) c.3138T>G (p.Ala1046=) c.2688T>G (p.Ala896=) c.990T>G (p.Ala330=) c.877-1624T>G (n.877-1624T>G) c.3039T>G (p.Ala1013=) c.3061-1624T>G (n.3061-1624T>G) c.2760T>G (p.Ala920=) c.2731-1624T>G (n.2731-1624T>G) c.1842T>G (p.Ala614=) n.3393T>G | |
13 | g.51944178A>G | CA483894690 | ATP7B | c.*894-1624T>C (n.*894-1624T>C) c.*1918T>C (n.*1918T>C) c.2553T>C (p.Ala851=) c.3174T>C (p.Ala1058=) c.2841T>C (p.Ala947=) c.2922T>C (p.Ala974=) c.2940T>C (p.Ala980=) n.3313T>C n.3537T>C c.2109T>C (p.Ala703=) c.1884T>C (p.Ala628=) c.2979T>C (p.Ala993=) n.394T>C c.1022-1624T>C c.*275T>C (n.*275T>C) n.3918T>C n.2519T>C c.3030T>C (p.Ala1010=) c.3078T>C (p.Ala1026=) c.3138T>C (p.Ala1046=) c.2688T>C (p.Ala896=) c.990T>C (p.Ala330=) c.877-1624T>C (n.877-1624T>C) c.3039T>C (p.Ala1013=) c.3061-1624T>C (n.3061-1624T>C) c.2760T>C (p.Ala920=) c.2731-1624T>C (n.2731-1624T>C) c.1842T>C (p.Ala614=) n.3393T>C | ClinVar dbSNP |
13 | g.51944178A>T | CA483894691 | ATP7B | c.*894-1624T>A (n.*894-1624T>A) c.*1918T>A (n.*1918T>A) c.2553T>A (p.Ala851=) c.3174T>A (p.Ala1058=) c.2841T>A (p.Ala947=) c.2922T>A (p.Ala974=) c.2940T>A (p.Ala980=) n.3313T>A n.3537T>A c.2109T>A (p.Ala703=) c.1884T>A (p.Ala628=) c.2979T>A (p.Ala993=) n.394T>A c.1022-1624T>A c.*275T>A (n.*275T>A) n.3918T>A n.2519T>A c.3030T>A (p.Ala1010=) c.3078T>A (p.Ala1026=) c.3138T>A (p.Ala1046=) c.2688T>A (p.Ala896=) c.990T>A (p.Ala330=) c.877-1624T>A (n.877-1624T>A) c.3039T>A (p.Ala1013=) c.3061-1624T>A (n.3061-1624T>A) c.2760T>A (p.Ala920=) c.2731-1624T>A (n.2731-1624T>A) c.1842T>A (p.Ala614=) n.3393T>A | |
13 | g.51944179G>A | CA388030034 | ATP7B | c.*894-1625C>T (n.*894-1625C>T) c.*1917C>T (n.*1917C>T) c.2552C>T (p.Ala851Val) c.3173C>T (p.Ala1058Val) c.2840C>T (p.Ala947Val) c.2921C>T (p.Ala974Val) c.2939C>T (p.Ala980Val) n.3312C>T n.3536C>T c.2108C>T (p.Ala703Val) c.1883C>T (p.Ala628Val) c.2978C>T (p.Ala993Val) n.393C>T c.1022-1625C>T c.*274C>T (n.*274C>T) n.3917C>T n.2518C>T c.3029C>T (p.Ala1010Val) c.3077C>T (p.Ala1026Val) c.3137C>T (p.Ala1046Val) c.2687C>T (p.Ala896Val) c.989C>T (p.Ala330Val) c.877-1625C>T (n.877-1625C>T) c.3038C>T (p.Ala1013Val) c.3061-1625C>T (n.3061-1625C>T) c.2759C>T (p.Ala920Val) c.2731-1625C>T (n.2731-1625C>T) c.1841C>T (p.Ala614Val) n.3392C>T | gnomAD v4 |
13 | g.51944179G>C | CA388030035 | ATP7B | c.*894-1625C>G (n.*894-1625C>G) c.*1917C>G (n.*1917C>G) c.2552C>G (p.Ala851Gly) c.3173C>G (p.Ala1058Gly) c.2840C>G (p.Ala947Gly) c.2921C>G (p.Ala974Gly) c.2939C>G (p.Ala980Gly) n.3312C>G n.3536C>G c.2108C>G (p.Ala703Gly) c.1883C>G (p.Ala628Gly) c.2978C>G (p.Ala993Gly) n.393C>G c.1022-1625C>G c.*274C>G (n.*274C>G) n.3917C>G n.2518C>G c.3029C>G (p.Ala1010Gly) c.3077C>G (p.Ala1026Gly) c.3137C>G (p.Ala1046Gly) c.2687C>G (p.Ala896Gly) c.989C>G (p.Ala330Gly) c.877-1625C>G (n.877-1625C>G) c.3038C>G (p.Ala1013Gly) c.3061-1625C>G (n.3061-1625C>G) c.2759C>G (p.Ala920Gly) c.2731-1625C>G (n.2731-1625C>G) c.1841C>G (p.Ala614Gly) n.3392C>G | |
13 | g.51944179G>T | CA388030036 | ATP7B | c.*894-1625C>A (n.*894-1625C>A) c.*1917C>A (n.*1917C>A) c.2552C>A (p.Ala851Asp) c.3173C>A (p.Ala1058Asp) c.2840C>A (p.Ala947Asp) c.2921C>A (p.Ala974Asp) c.2939C>A (p.Ala980Asp) n.3312C>A n.3536C>A c.2108C>A (p.Ala703Asp) c.1883C>A (p.Ala628Asp) c.2978C>A (p.Ala993Asp) n.393C>A c.1022-1625C>A c.*274C>A (n.*274C>A) n.3917C>A n.2518C>A c.3029C>A (p.Ala1010Asp) c.3077C>A (p.Ala1026Asp) c.3137C>A (p.Ala1046Asp) c.2687C>A (p.Ala896Asp) c.989C>A (p.Ala330Asp) c.877-1625C>A (n.877-1625C>A) c.3038C>A (p.Ala1013Asp) c.3061-1625C>A (n.3061-1625C>A) c.2759C>A (p.Ala920Asp) c.2731-1625C>A (n.2731-1625C>A) c.1841C>A (p.Ala614Asp) n.3392C>A | |
13 | g.51944180C>A | CA388030039 | ATP7B | c.*894-1626G>T (n.*894-1626G>T) c.*1916G>T (n.*1916G>T) c.2551G>T (p.Ala851Ser) c.3172G>T (p.Ala1058Ser) c.2839G>T (p.Ala947Ser) c.2920G>T (p.Ala974Ser) c.2938G>T (p.Ala980Ser) n.3311G>T n.3535G>T c.2107G>T (p.Ala703Ser) c.1882G>T (p.Ala628Ser) c.2977G>T (p.Ala993Ser) n.392G>T c.1022-1626G>T c.*273G>T (n.*273G>T) n.3916G>T n.2517G>T c.3028G>T (p.Ala1010Ser) c.3076G>T (p.Ala1026Ser) c.3136G>T (p.Ala1046Ser) c.2686G>T (p.Ala896Ser) c.988G>T (p.Ala330Ser) c.877-1626G>T (n.877-1626G>T) c.3037G>T (p.Ala1013Ser) c.3061-1626G>T (n.3061-1626G>T) c.2758G>T (p.Ala920Ser) c.2731-1626G>T (n.2731-1626G>T) c.1840G>T (p.Ala614Ser) n.3391G>T | |
13 | g.51944180C>G | CA388030041 | ATP7B | c.*894-1626G>C (n.*894-1626G>C) c.*1916G>C (n.*1916G>C) c.2551G>C (p.Ala851Pro) c.3172G>C (p.Ala1058Pro) c.2839G>C (p.Ala947Pro) c.2920G>C (p.Ala974Pro) c.2938G>C (p.Ala980Pro) n.3311G>C n.3535G>C c.2107G>C (p.Ala703Pro) c.1882G>C (p.Ala628Pro) c.2977G>C (p.Ala993Pro) n.392G>C c.1022-1626G>C c.*273G>C (n.*273G>C) n.3916G>C n.2517G>C c.3028G>C (p.Ala1010Pro) c.3076G>C (p.Ala1026Pro) c.3136G>C (p.Ala1046Pro) c.2686G>C (p.Ala896Pro) c.988G>C (p.Ala330Pro) c.877-1626G>C (n.877-1626G>C) c.3037G>C (p.Ala1013Pro) c.3061-1626G>C (n.3061-1626G>C) c.2758G>C (p.Ala920Pro) c.2731-1626G>C (n.2731-1626G>C) c.1840G>C (p.Ala614Pro) n.3391G>C | |
13 | g.51944180C>T | CA388030044 | ATP7B | c.*894-1626G>A (n.*894-1626G>A) c.*1916G>A (n.*1916G>A) c.2551G>A (p.Ala851Thr) c.3172G>A (p.Ala1058Thr) c.2839G>A (p.Ala947Thr) c.2920G>A (p.Ala974Thr) c.2938G>A (p.Ala980Thr) n.3311G>A n.3535G>A c.2107G>A (p.Ala703Thr) c.1882G>A (p.Ala628Thr) c.2977G>A (p.Ala993Thr) n.392G>A c.1022-1626G>A c.*273G>A (n.*273G>A) n.3916G>A n.2517G>A c.3028G>A (p.Ala1010Thr) c.3076G>A (p.Ala1026Thr) c.3136G>A (p.Ala1046Thr) c.2686G>A (p.Ala896Thr) c.988G>A (p.Ala330Thr) c.877-1626G>A (n.877-1626G>A) c.3037G>A (p.Ala1013Thr) c.3061-1626G>A (n.3061-1626G>A) c.2758G>A (p.Ala920Thr) c.2731-1626G>A (n.2731-1626G>A) c.1840G>A (p.Ala614Thr) n.3391G>A | |
13 | g.51944181C>A | CA483894692 | ATP7B | c.*894-1627G>T (n.*894-1627G>T) c.*1915G>T (n.*1915G>T) c.2550G>T (p.Leu850=) c.3171G>T (p.Leu1057=) c.2838G>T (p.Leu946=) c.2919G>T (p.Leu973=) c.2937G>T (p.Leu979=) n.3310G>T n.3534G>T c.2106G>T (p.Leu702=) c.1881G>T (p.Leu627=) c.2976G>T (p.Leu992=) n.391G>T c.1022-1627G>T c.*272G>T (n.*272G>T) n.3915G>T n.2516G>T c.3027G>T (p.Leu1009=) c.3075G>T (p.Leu1025=) c.3135G>T (p.Leu1045=) c.2685G>T (p.Leu895=) c.987G>T (p.Leu329=) c.877-1627G>T (n.877-1627G>T) c.3036G>T (p.Leu1012=) c.3061-1627G>T (n.3061-1627G>T) c.2757G>T (p.Leu919=) c.2731-1627G>T (n.2731-1627G>T) c.1839G>T (p.Leu613=) n.3390G>T | |
13 | g.51944181C>G | CA483894693 | ATP7B | c.*894-1627G>C (n.*894-1627G>C) c.*1915G>C (n.*1915G>C) c.2550G>C (p.Leu850=) c.3171G>C (p.Leu1057=) c.2838G>C (p.Leu946=) c.2919G>C (p.Leu973=) c.2937G>C (p.Leu979=) n.3310G>C n.3534G>C c.2106G>C (p.Leu702=) c.1881G>C (p.Leu627=) c.2976G>C (p.Leu992=) n.391G>C c.1022-1627G>C c.*272G>C (n.*272G>C) n.3915G>C n.2516G>C c.3027G>C (p.Leu1009=) c.3075G>C (p.Leu1025=) c.3135G>C (p.Leu1045=) c.2685G>C (p.Leu895=) c.987G>C (p.Leu329=) c.877-1627G>C (n.877-1627G>C) c.3036G>C (p.Leu1012=) c.3061-1627G>C (n.3061-1627G>C) c.2757G>C (p.Leu919=) c.2731-1627G>C (n.2731-1627G>C) c.1839G>C (p.Leu613=) n.3390G>C | |
13 | g.51944181C>T | CA483894694 | ATP7B | c.*894-1627G>A (n.*894-1627G>A) c.*1915G>A (n.*1915G>A) c.2550G>A (p.Leu850=) c.3171G>A (p.Leu1057=) c.2838G>A (p.Leu946=) c.2919G>A (p.Leu973=) c.2937G>A (p.Leu979=) n.3310G>A n.3534G>A c.2106G>A (p.Leu702=) c.1881G>A (p.Leu627=) c.2976G>A (p.Leu992=) n.391G>A c.1022-1627G>A c.*272G>A (n.*272G>A) n.3915G>A n.2516G>A c.3027G>A (p.Leu1009=) c.3075G>A (p.Leu1025=) c.3135G>A (p.Leu1045=) c.2685G>A (p.Leu895=) c.987G>A (p.Leu329=) c.877-1627G>A (n.877-1627G>A) c.3036G>A (p.Leu1012=) c.3061-1627G>A (n.3061-1627G>A) c.2757G>A (p.Leu919=) c.2731-1627G>A (n.2731-1627G>A) c.1839G>A (p.Leu613=) n.3390G>A | |
13 | g.51944182A= | CA2091563901 | ATP7B | c.*894-1628T= (n.*894-1628T=) c.*1914T= (n.*1914T=) c.2549T= (p.Leu850=) c.3170T= (p.Leu1057=) c.2837T= (p.Leu946=) c.2918T= (p.Leu973=) c.2936T= (p.Leu979=) n.3309T= n.3533T= c.2105T= (p.Leu702=) c.1880T= (p.Leu627=) c.2975T= (p.Leu992=) n.390T= c.1022-1628T= c.*271T= (n.*271T=) n.3914T= n.2515T= c.3026T= (p.Leu1009=) c.3074T= (p.Leu1025=) c.3134T= (p.Leu1045=) c.2684T= (p.Leu895=) c.986T= (p.Leu329=) c.877-1628T= (n.877-1628T=) c.3035T= (p.Leu1012=) c.3061-1628T= (n.3061-1628T=) c.2756T= (p.Leu919=) c.2731-1628T= (n.2731-1628T=) c.1838T= (p.Leu613=) n.3389T= | |
13 | g.51944182A>C | CA388030046 | ATP7B | c.*894-1628T>G (n.*894-1628T>G) c.*1914T>G (n.*1914T>G) c.2549T>G (p.Leu850Arg) c.3170T>G (p.Leu1057Arg) c.2837T>G (p.Leu946Arg) c.2918T>G (p.Leu973Arg) c.2936T>G (p.Leu979Arg) n.3309T>G n.3533T>G c.2105T>G (p.Leu702Arg) c.1880T>G (p.Leu627Arg) c.2975T>G (p.Leu992Arg) n.390T>G c.1022-1628T>G c.*271T>G (n.*271T>G) n.3914T>G n.2515T>G c.3026T>G (p.Leu1009Arg) c.3074T>G (p.Leu1025Arg) c.3134T>G (p.Leu1045Arg) c.2684T>G (p.Leu895Arg) c.986T>G (p.Leu329Arg) c.877-1628T>G (n.877-1628T>G) c.3035T>G (p.Leu1012Arg) c.3061-1628T>G (n.3061-1628T>G) c.2756T>G (p.Leu919Arg) c.2731-1628T>G (n.2731-1628T>G) c.1838T>G (p.Leu613Arg) n.3389T>G | |
13 | g.51944182A>G | CA6988790 | ATP7B | c.*894-1628T>C (n.*894-1628T>C) c.*1914T>C (n.*1914T>C) c.2549T>C (p.Leu850Pro) c.3170T>C (p.Leu1057Pro) c.2837T>C (p.Leu946Pro) c.2918T>C (p.Leu973Pro) c.2936T>C (p.Leu979Pro) n.3309T>C n.3533T>C c.2105T>C (p.Leu702Pro) c.1880T>C (p.Leu627Pro) c.2975T>C (p.Leu992Pro) n.390T>C c.1022-1628T>C c.*271T>C (n.*271T>C) n.3914T>C n.2515T>C c.3026T>C (p.Leu1009Pro) c.3074T>C (p.Leu1025Pro) c.3134T>C (p.Leu1045Pro) c.2684T>C (p.Leu895Pro) c.986T>C (p.Leu329Pro) c.877-1628T>C (n.877-1628T>C) c.3035T>C (p.Leu1012Pro) c.3061-1628T>C (n.3061-1628T>C) c.2756T>C (p.Leu919Pro) c.2731-1628T>C (n.2731-1628T>C) c.1838T>C (p.Leu613Pro) n.3389T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944182A>T | CA388030048 | ATP7B | c.*894-1628T>A (n.*894-1628T>A) c.*1914T>A (n.*1914T>A) c.2549T>A (p.Leu850Gln) c.3170T>A (p.Leu1057Gln) c.2837T>A (p.Leu946Gln) c.2918T>A (p.Leu973Gln) c.2936T>A (p.Leu979Gln) n.3309T>A n.3533T>A c.2105T>A (p.Leu702Gln) c.1880T>A (p.Leu627Gln) c.2975T>A (p.Leu992Gln) n.390T>A c.1022-1628T>A c.*271T>A (n.*271T>A) n.3914T>A n.2515T>A c.3026T>A (p.Leu1009Gln) c.3074T>A (p.Leu1025Gln) c.3134T>A (p.Leu1045Gln) c.2684T>A (p.Leu895Gln) c.986T>A (p.Leu329Gln) c.877-1628T>A (n.877-1628T>A) c.3035T>A (p.Leu1012Gln) c.3061-1628T>A (n.3061-1628T>A) c.2756T>A (p.Leu919Gln) c.2731-1628T>A (n.2731-1628T>A) c.1838T>A (p.Leu613Gln) n.3389T>A | |
13 | g.51944183G>A | CA171308 | ATP7B | c.*894-1629C>T (n.*894-1629C>T) c.*1913C>T (n.*1913C>T) c.2548C>T (p.Leu850=) c.3169C>T (p.Leu1057=) c.2836C>T (p.Leu946=) c.2917C>T (p.Leu973=) c.2935C>T (p.Leu979=) n.3308C>T n.3532C>T c.2104C>T (p.Leu702=) c.1879C>T (p.Leu627=) c.2974C>T (p.Leu992=) n.389C>T c.1022-1629C>T c.*270C>T (n.*270C>T) n.3913C>T n.2514C>T c.3025C>T (p.Leu1009=) c.3073C>T (p.Leu1025=) c.3133C>T (p.Leu1045=) c.2683C>T (p.Leu895=) c.985C>T (p.Leu329=) c.877-1629C>T (n.877-1629C>T) c.3034C>T (p.Leu1012=) c.3061-1629C>T (n.3061-1629C>T) c.2755C>T (p.Leu919=) c.2731-1629C>T (n.2731-1629C>T) c.1837C>T (p.Leu613=) n.3388C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944183G>C | CA388030051 | ATP7B | c.*894-1629C>G (n.*894-1629C>G) c.*1913C>G (n.*1913C>G) c.2548C>G (p.Leu850Val) c.3169C>G (p.Leu1057Val) c.2836C>G (p.Leu946Val) c.2917C>G (p.Leu973Val) c.2935C>G (p.Leu979Val) n.3308C>G n.3532C>G c.2104C>G (p.Leu702Val) c.1879C>G (p.Leu627Val) c.2974C>G (p.Leu992Val) n.389C>G c.1022-1629C>G c.*270C>G (n.*270C>G) n.3913C>G n.2514C>G c.3025C>G (p.Leu1009Val) c.3073C>G (p.Leu1025Val) c.3133C>G (p.Leu1045Val) c.2683C>G (p.Leu895Val) c.985C>G (p.Leu329Val) c.877-1629C>G (n.877-1629C>G) c.3034C>G (p.Leu1012Val) c.3061-1629C>G (n.3061-1629C>G) c.2755C>G (p.Leu919Val) c.2731-1629C>G (n.2731-1629C>G) c.1837C>G (p.Leu613Val) n.3388C>G | |
13 | g.51944183G= | CA2091563903 | ATP7B | c.*894-1629C= (n.*894-1629C=) c.*1913C= (n.*1913C=) c.2548C= (p.Leu850=) c.3169C= (p.Leu1057=) c.2836C= (p.Leu946=) c.2917C= (p.Leu973=) c.2935C= (p.Leu979=) n.3308C= n.3532C= c.2104C= (p.Leu702=) c.1879C= (p.Leu627=) c.2974C= (p.Leu992=) n.389C= c.1022-1629C= c.*270C= (n.*270C=) n.3913C= n.2514C= c.3025C= (p.Leu1009=) c.3073C= (p.Leu1025=) c.3133C= (p.Leu1045=) c.2683C= (p.Leu895=) c.985C= (p.Leu329=) c.877-1629C= (n.877-1629C=) c.3034C= (p.Leu1012=) c.3061-1629C= (n.3061-1629C=) c.2755C= (p.Leu919=) c.2731-1629C= (n.2731-1629C=) c.1837C= (p.Leu613=) n.3388C= | |
13 | g.51944183G>T | CA388030053 | ATP7B | c.*894-1629C>A (n.*894-1629C>A) c.*1913C>A (n.*1913C>A) c.2548C>A (p.Leu850Met) c.3169C>A (p.Leu1057Met) c.2836C>A (p.Leu946Met) c.2917C>A (p.Leu973Met) c.2935C>A (p.Leu979Met) n.3308C>A n.3532C>A c.2104C>A (p.Leu702Met) c.1879C>A (p.Leu627Met) c.2974C>A (p.Leu992Met) n.389C>A c.1022-1629C>A c.*270C>A (n.*270C>A) n.3913C>A n.2514C>A c.3025C>A (p.Leu1009Met) c.3073C>A (p.Leu1025Met) c.3133C>A (p.Leu1045Met) c.2683C>A (p.Leu895Met) c.985C>A (p.Leu329Met) c.877-1629C>A (n.877-1629C>A) c.3034C>A (p.Leu1012Met) c.3061-1629C>A (n.3061-1629C>A) c.2755C>A (p.Leu919Met) c.2731-1629C>A (n.2731-1629C>A) c.1837C>A (p.Leu613Met) n.3388C>A | |
13 | g.51944184A>C | CA483894695 | ATP7B | c.*894-1630T>G (n.*894-1630T>G) c.*1912T>G (n.*1912T>G) c.2547T>G (p.Val849=) c.3168T>G (p.Val1056=) c.2835T>G (p.Val945=) c.2916T>G (p.Val972=) c.2934T>G (p.Val978=) n.3307T>G n.3531T>G c.2103T>G (p.Val701=) c.1878T>G (p.Val626=) c.2973T>G (p.Val991=) n.388T>G c.1022-1630T>G c.*269T>G (n.*269T>G) n.3912T>G n.2513T>G c.3024T>G (p.Val1008=) c.3072T>G (p.Val1024=) c.3132T>G (p.Val1044=) c.2682T>G (p.Val894=) c.984T>G (p.Val328=) c.877-1630T>G (n.877-1630T>G) c.3033T>G (p.Val1011=) c.3061-1630T>G (n.3061-1630T>G) c.2754T>G (p.Val918=) c.2731-1630T>G (n.2731-1630T>G) c.1836T>G (p.Val612=) n.3387T>G | |
13 | g.51944184A>G | CA483894696 | ATP7B | c.*894-1630T>C (n.*894-1630T>C) c.*1912T>C (n.*1912T>C) c.2547T>C (p.Val849=) c.3168T>C (p.Val1056=) c.2835T>C (p.Val945=) c.2916T>C (p.Val972=) c.2934T>C (p.Val978=) n.3307T>C n.3531T>C c.2103T>C (p.Val701=) c.1878T>C (p.Val626=) c.2973T>C (p.Val991=) n.388T>C c.1022-1630T>C c.*269T>C (n.*269T>C) n.3912T>C n.2513T>C c.3024T>C (p.Val1008=) c.3072T>C (p.Val1024=) c.3132T>C (p.Val1044=) c.2682T>C (p.Val894=) c.984T>C (p.Val328=) c.877-1630T>C (n.877-1630T>C) c.3033T>C (p.Val1011=) c.3061-1630T>C (n.3061-1630T>C) c.2754T>C (p.Val918=) c.2731-1630T>C (n.2731-1630T>C) c.1836T>C (p.Val612=) n.3387T>C | |
13 | g.51944184A>T | CA483894697 | ATP7B | c.*894-1630T>A (n.*894-1630T>A) c.*1912T>A (n.*1912T>A) c.2547T>A (p.Val849=) c.3168T>A (p.Val1056=) c.2835T>A (p.Val945=) c.2916T>A (p.Val972=) c.2934T>A (p.Val978=) n.3307T>A n.3531T>A c.2103T>A (p.Val701=) c.1878T>A (p.Val626=) c.2973T>A (p.Val991=) n.388T>A c.1022-1630T>A c.*269T>A (n.*269T>A) n.3912T>A n.2513T>A c.3024T>A (p.Val1008=) c.3072T>A (p.Val1024=) c.3132T>A (p.Val1044=) c.2682T>A (p.Val894=) c.984T>A (p.Val328=) c.877-1630T>A (n.877-1630T>A) c.3033T>A (p.Val1011=) c.3061-1630T>A (n.3061-1630T>A) c.2754T>A (p.Val918=) c.2731-1630T>A (n.2731-1630T>A) c.1836T>A (p.Val612=) n.3387T>A | |
13 | g.51944185del | CA2499222490 | ATP7B | c.*894-1630del (n.*894-1630del) c.*1912del (n.*1912del) c.2547del (p.Leu850TrpfsTer?) c.3168del (p.Leu1057TrpfsTer?) c.2835del (p.Leu946TrpfsTer?) c.2916del (p.Leu973TrpfsTer?) c.2934del (p.Leu979TrpfsTer?) n.3307del n.3531del c.2103del (p.Leu702TrpfsTer?) c.1878del (p.Leu627TrpfsTer?) c.2973del (p.Leu992TrpfsTer?) n.388del c.1022-1630del c.*269del (n.*269del) n.3912del n.2513del c.3024del (p.Leu1009TrpfsTer?) c.3072del (p.Leu1025TrpfsTer?) c.3132del (p.Leu1045TrpfsTer?) c.2682del (p.Leu895TrpfsTer?) c.984del (p.Leu329TrpfsTer?) c.877-1630del (n.877-1630del) c.3033del (p.Leu1012TrpfsTer?) c.3061-1630del (n.3061-1630del) c.2754del (p.Leu919TrpfsTer?) c.2731-1630del (n.2731-1630del) c.1836del (p.Leu613TrpfsTer?) n.3387del | ClinVar dbSNP |
13 | g.51944185A>C | CA388030055 | ATP7B | c.*894-1631T>G (n.*894-1631T>G) c.*1911T>G (n.*1911T>G) c.2546T>G (p.Val849Gly) c.3167T>G (p.Val1056Gly) c.2834T>G (p.Val945Gly) c.2915T>G (p.Val972Gly) c.2933T>G (p.Val978Gly) n.3306T>G n.3530T>G c.2102T>G (p.Val701Gly) c.1877T>G (p.Val626Gly) c.2972T>G (p.Val991Gly) n.387T>G c.1022-1631T>G c.*268T>G (n.*268T>G) n.3911T>G n.2512T>G c.3023T>G (p.Val1008Gly) c.3071T>G (p.Val1024Gly) c.3131T>G (p.Val1044Gly) c.2681T>G (p.Val894Gly) c.983T>G (p.Val328Gly) c.877-1631T>G (n.877-1631T>G) c.3032T>G (p.Val1011Gly) c.3061-1631T>G (n.3061-1631T>G) c.2753T>G (p.Val918Gly) c.2731-1631T>G (n.2731-1631T>G) c.1835T>G (p.Val612Gly) n.3386T>G | |
13 | g.51944185A>G | CA388030057 | ATP7B | c.*894-1631T>C (n.*894-1631T>C) c.*1911T>C (n.*1911T>C) c.2546T>C (p.Val849Ala) c.3167T>C (p.Val1056Ala) c.2834T>C (p.Val945Ala) c.2915T>C (p.Val972Ala) c.2933T>C (p.Val978Ala) n.3306T>C n.3530T>C c.2102T>C (p.Val701Ala) c.1877T>C (p.Val626Ala) c.2972T>C (p.Val991Ala) n.387T>C c.1022-1631T>C c.*268T>C (n.*268T>C) n.3911T>C n.2512T>C c.3023T>C (p.Val1008Ala) c.3071T>C (p.Val1024Ala) c.3131T>C (p.Val1044Ala) c.2681T>C (p.Val894Ala) c.983T>C (p.Val328Ala) c.877-1631T>C (n.877-1631T>C) c.3032T>C (p.Val1011Ala) c.3061-1631T>C (n.3061-1631T>C) c.2753T>C (p.Val918Ala) c.2731-1631T>C (n.2731-1631T>C) c.1835T>C (p.Val612Ala) n.3386T>C | |
13 | g.51944185A>T | CA388030060 | ATP7B | c.*894-1631T>A (n.*894-1631T>A) c.*1911T>A (n.*1911T>A) c.2546T>A (p.Val849Asp) c.3167T>A (p.Val1056Asp) c.2834T>A (p.Val945Asp) c.2915T>A (p.Val972Asp) c.2933T>A (p.Val978Asp) n.3306T>A n.3530T>A c.2102T>A (p.Val701Asp) c.1877T>A (p.Val626Asp) c.2972T>A (p.Val991Asp) n.387T>A c.1022-1631T>A c.*268T>A (n.*268T>A) n.3911T>A n.2512T>A c.3023T>A (p.Val1008Asp) c.3071T>A (p.Val1024Asp) c.3131T>A (p.Val1044Asp) c.2681T>A (p.Val894Asp) c.983T>A (p.Val328Asp) c.877-1631T>A (n.877-1631T>A) c.3032T>A (p.Val1011Asp) c.3061-1631T>A (n.3061-1631T>A) c.2753T>A (p.Val918Asp) c.2731-1631T>A (n.2731-1631T>A) c.1835T>A (p.Val612Asp) n.3386T>A | |
13 | g.51944186C>A | CA388030061 | ATP7B | c.*894-1632G>T (n.*894-1632G>T) c.*1910G>T (n.*1910G>T) c.2545G>T (p.Val849Phe) c.3166G>T (p.Val1056Phe) c.2833G>T (p.Val945Phe) c.2914G>T (p.Val972Phe) c.2932G>T (p.Val978Phe) n.3305G>T n.3529G>T c.2101G>T (p.Val701Phe) c.1876G>T (p.Val626Phe) c.2971G>T (p.Val991Phe) n.386G>T c.1022-1632G>T c.*267G>T (n.*267G>T) n.3910G>T n.2511G>T c.3022G>T (p.Val1008Phe) c.3070G>T (p.Val1024Phe) c.3130G>T (p.Val1044Phe) c.2680G>T (p.Val894Phe) c.982G>T (p.Val328Phe) c.877-1632G>T (n.877-1632G>T) c.3031G>T (p.Val1011Phe) c.3061-1632G>T (n.3061-1632G>T) c.2752G>T (p.Val918Phe) c.2731-1632G>T (n.2731-1632G>T) c.1834G>T (p.Val612Phe) n.3385G>T | |
13 | g.51944186C= | CA2091563907 | ATP7B | c.*894-1632G= (n.*894-1632G=) c.*1910G= (n.*1910G=) c.2545G= (p.Val849=) c.3166G= (p.Val1056=) c.2833G= (p.Val945=) c.2914G= (p.Val972=) c.2932G= (p.Val978=) n.3305G= n.3529G= c.2101G= (p.Val701=) c.1876G= (p.Val626=) c.2971G= (p.Val991=) n.386G= c.1022-1632G= c.*267G= (n.*267G=) n.3910G= n.2511G= c.3022G= (p.Val1008=) c.3070G= (p.Val1024=) c.3130G= (p.Val1044=) c.2680G= (p.Val894=) c.982G= (p.Val328=) c.877-1632G= (n.877-1632G=) c.3031G= (p.Val1011=) c.3061-1632G= (n.3061-1632G=) c.2752G= (p.Val918=) c.2731-1632G= (n.2731-1632G=) c.1834G= (p.Val612=) n.3385G= | |
13 | g.51944186C>G | CA388030064 | ATP7B | c.*894-1632G>C (n.*894-1632G>C) c.*1910G>C (n.*1910G>C) c.2545G>C (p.Val849Leu) c.3166G>C (p.Val1056Leu) c.2833G>C (p.Val945Leu) c.2914G>C (p.Val972Leu) c.2932G>C (p.Val978Leu) n.3305G>C n.3529G>C c.2101G>C (p.Val701Leu) c.1876G>C (p.Val626Leu) c.2971G>C (p.Val991Leu) n.386G>C c.1022-1632G>C c.*267G>C (n.*267G>C) n.3910G>C n.2511G>C c.3022G>C (p.Val1008Leu) c.3070G>C (p.Val1024Leu) c.3130G>C (p.Val1044Leu) c.2680G>C (p.Val894Leu) c.982G>C (p.Val328Leu) c.877-1632G>C (n.877-1632G>C) c.3031G>C (p.Val1011Leu) c.3061-1632G>C (n.3061-1632G>C) c.2752G>C (p.Val918Leu) c.2731-1632G>C (n.2731-1632G>C) c.1834G>C (p.Val612Leu) n.3385G>C | |
13 | g.51944186C>T | CA388030072 | ATP7B | c.*894-1632G>A (n.*894-1632G>A) c.*1910G>A (n.*1910G>A) c.2545G>A (p.Val849Ile) c.3166G>A (p.Val1056Ile) c.2833G>A (p.Val945Ile) c.2914G>A (p.Val972Ile) c.2932G>A (p.Val978Ile) n.3305G>A n.3529G>A c.2101G>A (p.Val701Ile) c.1876G>A (p.Val626Ile) c.2971G>A (p.Val991Ile) n.386G>A c.1022-1632G>A c.*267G>A (n.*267G>A) n.3910G>A n.2511G>A c.3022G>A (p.Val1008Ile) c.3070G>A (p.Val1024Ile) c.3130G>A (p.Val1044Ile) c.2680G>A (p.Val894Ile) c.982G>A (p.Val328Ile) c.877-1632G>A (n.877-1632G>A) c.3031G>A (p.Val1011Ile) c.3061-1632G>A (n.3061-1632G>A) c.2752G>A (p.Val918Ile) c.2731-1632G>A (n.2731-1632G>A) c.1834G>A (p.Val612Ile) n.3385G>A | dbSNP |
13 | g.51944187C>A | CA388030074 | ATP7B | c.*894-1633G>T (n.*894-1633G>T) c.*1909G>T (n.*1909G>T) c.2544G>T (p.Lys848Asn) c.3165G>T (p.Lys1055Asn) c.2832G>T (p.Lys944Asn) c.2913G>T (p.Lys971Asn) c.2931G>T (p.Lys977Asn) n.3304G>T n.3528G>T c.2100G>T (p.Lys700Asn) c.1875G>T (p.Lys625Asn) c.2970G>T (p.Lys990Asn) n.385G>T c.1022-1633G>T c.*266G>T (n.*266G>T) n.3909G>T n.2510G>T c.3021G>T (p.Lys1007Asn) c.3069G>T (p.Lys1023Asn) c.3129G>T (p.Lys1043Asn) c.2679G>T (p.Lys893Asn) c.981G>T (p.Lys327Asn) c.877-1633G>T (n.877-1633G>T) c.3030G>T (p.Lys1010Asn) c.3061-1633G>T (n.3061-1633G>T) c.2751G>T (p.Lys917Asn) c.2731-1633G>T (n.2731-1633G>T) c.1833G>T (p.Lys611Asn) n.3384G>T | |
13 | g.51944187C>G | CA388030077 | ATP7B | c.*894-1633G>C (n.*894-1633G>C) c.*1909G>C (n.*1909G>C) c.2544G>C (p.Lys848Asn) c.3165G>C (p.Lys1055Asn) c.2832G>C (p.Lys944Asn) c.2913G>C (p.Lys971Asn) c.2931G>C (p.Lys977Asn) n.3304G>C n.3528G>C c.2100G>C (p.Lys700Asn) c.1875G>C (p.Lys625Asn) c.2970G>C (p.Lys990Asn) n.385G>C c.1022-1633G>C c.*266G>C (n.*266G>C) n.3909G>C n.2510G>C c.3021G>C (p.Lys1007Asn) c.3069G>C (p.Lys1023Asn) c.3129G>C (p.Lys1043Asn) c.2679G>C (p.Lys893Asn) c.981G>C (p.Lys327Asn) c.877-1633G>C (n.877-1633G>C) c.3030G>C (p.Lys1010Asn) c.3061-1633G>C (n.3061-1633G>C) c.2751G>C (p.Lys917Asn) c.2731-1633G>C (n.2731-1633G>C) c.1833G>C (p.Lys611Asn) n.3384G>C | |
13 | g.51944187C>T | CA483894698 | ATP7B | c.*894-1633G>A (n.*894-1633G>A) c.*1909G>A (n.*1909G>A) c.2544G>A (p.Lys848=) c.3165G>A (p.Lys1055=) c.2832G>A (p.Lys944=) c.2913G>A (p.Lys971=) c.2931G>A (p.Lys977=) n.3304G>A n.3528G>A c.2100G>A (p.Lys700=) c.1875G>A (p.Lys625=) c.2970G>A (p.Lys990=) n.385G>A c.1022-1633G>A c.*266G>A (n.*266G>A) n.3909G>A n.2510G>A c.3021G>A (p.Lys1007=) c.3069G>A (p.Lys1023=) c.3129G>A (p.Lys1043=) c.2679G>A (p.Lys893=) c.981G>A (p.Lys327=) c.877-1633G>A (n.877-1633G>A) c.3030G>A (p.Lys1010=) c.3061-1633G>A (n.3061-1633G>A) c.2751G>A (p.Lys917=) c.2731-1633G>A (n.2731-1633G>A) c.1833G>A (p.Lys611=) n.3384G>A | |
13 | g.51944188T>A | CA388030079 | ATP7B | c.*894-1634A>T (n.*894-1634A>T) c.*1908A>T (n.*1908A>T) c.2543A>T (p.Lys848Met) c.3164A>T (p.Lys1055Met) c.2831A>T (p.Lys944Met) c.2912A>T (p.Lys971Met) c.2930A>T (p.Lys977Met) n.3303A>T n.3527A>T c.2099A>T (p.Lys700Met) c.1874A>T (p.Lys625Met) c.2969A>T (p.Lys990Met) n.384A>T c.1022-1634A>T c.*265A>T (n.*265A>T) n.3908A>T n.2509A>T c.3020A>T (p.Lys1007Met) c.3068A>T (p.Lys1023Met) c.3128A>T (p.Lys1043Met) c.2678A>T (p.Lys893Met) c.980A>T (p.Lys327Met) c.877-1634A>T (n.877-1634A>T) c.3029A>T (p.Lys1010Met) c.3061-1634A>T (n.3061-1634A>T) c.2750A>T (p.Lys917Met) c.2731-1634A>T (n.2731-1634A>T) c.1832A>T (p.Lys611Met) n.3383A>T | gnomAD v4 |
13 | g.51944188T>C | CA388030080 | ATP7B | c.*894-1634A>G (n.*894-1634A>G) c.*1908A>G (n.*1908A>G) c.2543A>G (p.Lys848Arg) c.3164A>G (p.Lys1055Arg) c.2831A>G (p.Lys944Arg) c.2912A>G (p.Lys971Arg) c.2930A>G (p.Lys977Arg) n.3303A>G n.3527A>G c.2099A>G (p.Lys700Arg) c.1874A>G (p.Lys625Arg) c.2969A>G (p.Lys990Arg) n.384A>G c.1022-1634A>G c.*265A>G (n.*265A>G) n.3908A>G n.2509A>G c.3020A>G (p.Lys1007Arg) c.3068A>G (p.Lys1023Arg) c.3128A>G (p.Lys1043Arg) c.2678A>G (p.Lys893Arg) c.980A>G (p.Lys327Arg) c.877-1634A>G (n.877-1634A>G) c.3029A>G (p.Lys1010Arg) c.3061-1634A>G (n.3061-1634A>G) c.2750A>G (p.Lys917Arg) c.2731-1634A>G (n.2731-1634A>G) c.1832A>G (p.Lys611Arg) n.3383A>G | |
13 | g.51944188T>G | CA388030087 | ATP7B | c.*894-1634A>C (n.*894-1634A>C) c.*1908A>C (n.*1908A>C) c.2543A>C (p.Lys848Thr) c.3164A>C (p.Lys1055Thr) c.2831A>C (p.Lys944Thr) c.2912A>C (p.Lys971Thr) c.2930A>C (p.Lys977Thr) n.3303A>C n.3527A>C c.2099A>C (p.Lys700Thr) c.1874A>C (p.Lys625Thr) c.2969A>C (p.Lys990Thr) n.384A>C c.1022-1634A>C c.*265A>C (n.*265A>C) n.3908A>C n.2509A>C c.3020A>C (p.Lys1007Thr) c.3068A>C (p.Lys1023Thr) c.3128A>C (p.Lys1043Thr) c.2678A>C (p.Lys893Thr) c.980A>C (p.Lys327Thr) c.877-1634A>C (n.877-1634A>C) c.3029A>C (p.Lys1010Thr) c.3061-1634A>C (n.3061-1634A>C) c.2750A>C (p.Lys917Thr) c.2731-1634A>C (n.2731-1634A>C) c.1832A>C (p.Lys611Thr) n.3383A>C | |
13 | g.51944189T>A | CA388030094 | ATP7B | c.*894-1635A>T (n.*894-1635A>T) c.*1907A>T (n.*1907A>T) c.2542A>T (p.Lys848Ter) c.3163A>T (p.Lys1055Ter) c.2830A>T (p.Lys944Ter) c.2911A>T (p.Lys971Ter) c.2929A>T (p.Lys977Ter) n.3302A>T n.3526A>T c.2098A>T (p.Lys700Ter) c.1873A>T (p.Lys625Ter) c.2968A>T (p.Lys990Ter) n.383A>T c.1022-1635A>T c.*264A>T (n.*264A>T) n.3907A>T n.2508A>T c.3019A>T (p.Lys1007Ter) c.3067A>T (p.Lys1023Ter) c.3127A>T (p.Lys1043Ter) c.2677A>T (p.Lys893Ter) c.979A>T (p.Lys327Ter) c.877-1635A>T (n.877-1635A>T) c.3028A>T (p.Lys1010Ter) c.3061-1635A>T (n.3061-1635A>T) c.2749A>T (p.Lys917Ter) c.2731-1635A>T (n.2731-1635A>T) c.1831A>T (p.Lys611Ter) n.3382A>T | ClinVar dbSNP |
13 | g.51944189T>C | CA388030093 | ATP7B | c.*894-1635A>G (n.*894-1635A>G) c.*1907A>G (n.*1907A>G) c.2542A>G (p.Lys848Glu) c.3163A>G (p.Lys1055Glu) c.2830A>G (p.Lys944Glu) c.2911A>G (p.Lys971Glu) c.2929A>G (p.Lys977Glu) n.3302A>G n.3526A>G c.2098A>G (p.Lys700Glu) c.1873A>G (p.Lys625Glu) c.2968A>G (p.Lys990Glu) n.383A>G c.1022-1635A>G c.*264A>G (n.*264A>G) n.3907A>G n.2508A>G c.3019A>G (p.Lys1007Glu) c.3067A>G (p.Lys1023Glu) c.3127A>G (p.Lys1043Glu) c.2677A>G (p.Lys893Glu) c.979A>G (p.Lys327Glu) c.877-1635A>G (n.877-1635A>G) c.3028A>G (p.Lys1010Glu) c.3061-1635A>G (n.3061-1635A>G) c.2749A>G (p.Lys917Glu) c.2731-1635A>G (n.2731-1635A>G) c.1831A>G (p.Lys611Glu) n.3382A>G | |
13 | g.51944189T>G | CA388030090 | ATP7B | c.*894-1635A>C (n.*894-1635A>C) c.*1907A>C (n.*1907A>C) c.2542A>C (p.Lys848Gln) c.3163A>C (p.Lys1055Gln) c.2830A>C (p.Lys944Gln) c.2911A>C (p.Lys971Gln) c.2929A>C (p.Lys977Gln) n.3302A>C n.3526A>C c.2098A>C (p.Lys700Gln) c.1873A>C (p.Lys625Gln) c.2968A>C (p.Lys990Gln) n.383A>C c.1022-1635A>C c.*264A>C (n.*264A>C) n.3907A>C n.2508A>C c.3019A>C (p.Lys1007Gln) c.3067A>C (p.Lys1023Gln) c.3127A>C (p.Lys1043Gln) c.2677A>C (p.Lys893Gln) c.979A>C (p.Lys327Gln) c.877-1635A>C (n.877-1635A>C) c.3028A>C (p.Lys1010Gln) c.3061-1635A>C (n.3061-1635A>C) c.2749A>C (p.Lys917Gln) c.2731-1635A>C (n.2731-1635A>C) c.1831A>C (p.Lys611Gln) n.3382A>C | |
13 | g.51944189T= | CA2091563914 | ATP7B | c.*894-1635A= (n.*894-1635A=) c.*1907A= (n.*1907A=) c.2542A= (p.Lys848=) c.3163A= (p.Lys1055=) c.2830A= (p.Lys944=) c.2911A= (p.Lys971=) c.2929A= (p.Lys977=) n.3302A= n.3526A= c.2098A= (p.Lys700=) c.1873A= (p.Lys625=) c.2968A= (p.Lys990=) n.383A= c.1022-1635A= c.*264A= (n.*264A=) n.3907A= n.2508A= c.3019A= (p.Lys1007=) c.3067A= (p.Lys1023=) c.3127A= (p.Lys1043=) c.2677A= (p.Lys893=) c.979A= (p.Lys327=) c.877-1635A= (n.877-1635A=) c.3028A= (p.Lys1010=) c.3061-1635A= (n.3061-1635A=) c.2749A= (p.Lys917=) c.2731-1635A= (n.2731-1635A=) c.1831A= (p.Lys611=) n.3382A= | |
13 | g.51944190C>A | CA388030095 | ATP7B | c.*894-1636G>T (n.*894-1636G>T) c.*1906G>T (n.*1906G>T) c.2541G>T (p.Arg847Ser) c.3162G>T (p.Arg1054Ser) c.2829G>T (p.Arg943Ser) c.2910G>T (p.Arg970Ser) c.2928G>T (p.Arg976Ser) n.3301G>T n.3525G>T c.2097G>T (p.Arg699Ser) c.1872G>T (p.Arg624Ser) c.2967G>T (p.Arg989Ser) n.382G>T c.1022-1636G>T c.*263G>T (n.*263G>T) n.3906G>T n.2507G>T c.3018G>T (p.Arg1006Ser) c.3066G>T (p.Arg1022Ser) c.3126G>T (p.Arg1042Ser) c.2676G>T (p.Arg892Ser) c.978G>T (p.Arg326Ser) c.877-1636G>T (n.877-1636G>T) c.3027G>T (p.Arg1009Ser) c.3061-1636G>T (n.3061-1636G>T) c.2748G>T (p.Arg916Ser) c.2731-1636G>T (n.2731-1636G>T) c.1830G>T (p.Arg610Ser) n.3381G>T | |
13 | g.51944190C>G | CA388030096 | ATP7B | c.*894-1636G>C (n.*894-1636G>C) c.*1906G>C (n.*1906G>C) c.2541G>C (p.Arg847Ser) c.3162G>C (p.Arg1054Ser) c.2829G>C (p.Arg943Ser) c.2910G>C (p.Arg970Ser) c.2928G>C (p.Arg976Ser) n.3301G>C n.3525G>C c.2097G>C (p.Arg699Ser) c.1872G>C (p.Arg624Ser) c.2967G>C (p.Arg989Ser) n.382G>C c.1022-1636G>C c.*263G>C (n.*263G>C) n.3906G>C n.2507G>C c.3018G>C (p.Arg1006Ser) c.3066G>C (p.Arg1022Ser) c.3126G>C (p.Arg1042Ser) c.2676G>C (p.Arg892Ser) c.978G>C (p.Arg326Ser) c.877-1636G>C (n.877-1636G>C) c.3027G>C (p.Arg1009Ser) c.3061-1636G>C (n.3061-1636G>C) c.2748G>C (p.Arg916Ser) c.2731-1636G>C (n.2731-1636G>C) c.1830G>C (p.Arg610Ser) n.3381G>C | |
13 | g.51944190C>T | CA483894699 | ATP7B | c.*894-1636G>A (n.*894-1636G>A) c.*1906G>A (n.*1906G>A) c.2541G>A (p.Arg847=) c.3162G>A (p.Arg1054=) c.2829G>A (p.Arg943=) c.2910G>A (p.Arg970=) c.2928G>A (p.Arg976=) n.3301G>A n.3525G>A c.2097G>A (p.Arg699=) c.1872G>A (p.Arg624=) c.2967G>A (p.Arg989=) n.382G>A c.1022-1636G>A c.*263G>A (n.*263G>A) n.3906G>A n.2507G>A c.3018G>A (p.Arg1006=) c.3066G>A (p.Arg1022=) c.3126G>A (p.Arg1042=) c.2676G>A (p.Arg892=) c.978G>A (p.Arg326=) c.877-1636G>A (n.877-1636G>A) c.3027G>A (p.Arg1009=) c.3061-1636G>A (n.3061-1636G>A) c.2748G>A (p.Arg916=) c.2731-1636G>A (n.2731-1636G>A) c.1830G>A (p.Arg610=) n.3381G>A | ClinVar |
13 | g.51944191C>A | CA388030098 | ATP7B | c.*894-1637G>T (n.*894-1637G>T) c.*1905G>T (n.*1905G>T) c.2540G>T (p.Arg847Met) c.3161G>T (p.Arg1054Met) c.2828G>T (p.Arg943Met) c.2909G>T (p.Arg970Met) c.2927G>T (p.Arg976Met) n.3300G>T n.3524G>T c.2096G>T (p.Arg699Met) c.1871G>T (p.Arg624Met) c.2966G>T (p.Arg989Met) n.381G>T c.1022-1637G>T c.*262G>T (n.*262G>T) n.3905G>T n.2506G>T c.3017G>T (p.Arg1006Met) c.3065G>T (p.Arg1022Met) c.3125G>T (p.Arg1042Met) c.2675G>T (p.Arg892Met) c.977G>T (p.Arg326Met) c.877-1637G>T (n.877-1637G>T) c.3026G>T (p.Arg1009Met) c.3061-1637G>T (n.3061-1637G>T) c.2747G>T (p.Arg916Met) c.2731-1637G>T (n.2731-1637G>T) c.1829G>T (p.Arg610Met) n.3380G>T | |
13 | g.51944191C= | CA2091563918 | ATP7B | c.*894-1637G= (n.*894-1637G=) c.*1905G= (n.*1905G=) c.2540G= (p.Arg847=) c.3161G= (p.Arg1054=) c.2828G= (p.Arg943=) c.2909G= (p.Arg970=) c.2927G= (p.Arg976=) n.3300G= n.3524G= c.2096G= (p.Arg699=) c.1871G= (p.Arg624=) c.2966G= (p.Arg989=) n.381G= c.1022-1637G= c.*262G= (n.*262G=) n.3905G= n.2506G= c.3017G= (p.Arg1006=) c.3065G= (p.Arg1022=) c.3125G= (p.Arg1042=) c.2675G= (p.Arg892=) c.977G= (p.Arg326=) c.877-1637G= (n.877-1637G=) c.3026G= (p.Arg1009=) c.3061-1637G= (n.3061-1637G=) c.2747G= (p.Arg916=) c.2731-1637G= (n.2731-1637G=) c.1829G= (p.Arg610=) n.3380G= | |
13 | g.51944191C>G | CA388030099 | ATP7B | c.*894-1637G>C (n.*894-1637G>C) c.*1905G>C (n.*1905G>C) c.2540G>C (p.Arg847Thr) c.3161G>C (p.Arg1054Thr) c.2828G>C (p.Arg943Thr) c.2909G>C (p.Arg970Thr) c.2927G>C (p.Arg976Thr) n.3300G>C n.3524G>C c.2096G>C (p.Arg699Thr) c.1871G>C (p.Arg624Thr) c.2966G>C (p.Arg989Thr) n.381G>C c.1022-1637G>C c.*262G>C (n.*262G>C) n.3905G>C n.2506G>C c.3017G>C (p.Arg1006Thr) c.3065G>C (p.Arg1022Thr) c.3125G>C (p.Arg1042Thr) c.2675G>C (p.Arg892Thr) c.977G>C (p.Arg326Thr) c.877-1637G>C (n.877-1637G>C) c.3026G>C (p.Arg1009Thr) c.3061-1637G>C (n.3061-1637G>C) c.2747G>C (p.Arg916Thr) c.2731-1637G>C (n.2731-1637G>C) c.1829G>C (p.Arg610Thr) n.3380G>C | |
13 | g.51944191C>T | CA250080167 | ATP7B | c.*894-1637G>A (n.*894-1637G>A) c.*1905G>A (n.*1905G>A) c.2540G>A (p.Arg847Lys) c.3161G>A (p.Arg1054Lys) c.2828G>A (p.Arg943Lys) c.2909G>A (p.Arg970Lys) c.2927G>A (p.Arg976Lys) n.3300G>A n.3524G>A c.2096G>A (p.Arg699Lys) c.1871G>A (p.Arg624Lys) c.2966G>A (p.Arg989Lys) n.381G>A c.1022-1637G>A c.*262G>A (n.*262G>A) n.3905G>A n.2506G>A c.3017G>A (p.Arg1006Lys) c.3065G>A (p.Arg1022Lys) c.3125G>A (p.Arg1042Lys) c.2675G>A (p.Arg892Lys) c.977G>A (p.Arg326Lys) c.877-1637G>A (n.877-1637G>A) c.3026G>A (p.Arg1009Lys) c.3061-1637G>A (n.3061-1637G>A) c.2747G>A (p.Arg916Lys) c.2731-1637G>A (n.2731-1637G>A) c.1829G>A (p.Arg610Lys) n.3380G>A | dbSNP gnomAD v4 |
13 | g.51944192T>A | CA388030102 | ATP7B | c.*894-1638A>T (n.*894-1638A>T) c.*1904A>T (n.*1904A>T) c.2539A>T (p.Arg847Trp) c.3160A>T (p.Arg1054Trp) c.2827A>T (p.Arg943Trp) c.2908A>T (p.Arg970Trp) c.2926A>T (p.Arg976Trp) n.3299A>T n.3523A>T c.2095A>T (p.Arg699Trp) c.1870A>T (p.Arg624Trp) c.2965A>T (p.Arg989Trp) n.380A>T c.1022-1638A>T c.*261A>T (n.*261A>T) n.3904A>T n.2505A>T c.3016A>T (p.Arg1006Trp) n.506A>T c.3064A>T (p.Arg1022Trp) c.3124A>T (p.Arg1042Trp) c.2674A>T (p.Arg892Trp) c.976A>T (p.Arg326Trp) c.877-1638A>T (n.877-1638A>T) c.3025A>T (p.Arg1009Trp) c.3061-1638A>T (n.3061-1638A>T) c.2746A>T (p.Arg916Trp) c.2731-1638A>T (n.2731-1638A>T) c.1828A>T (p.Arg610Trp) n.3379A>T | |
13 | g.51944192T>C | CA6988792 | ATP7B | c.*894-1638A>G (n.*894-1638A>G) c.*1904A>G (n.*1904A>G) c.2539A>G (p.Arg847Gly) c.3160A>G (p.Arg1054Gly) c.2827A>G (p.Arg943Gly) c.2908A>G (p.Arg970Gly) c.2926A>G (p.Arg976Gly) n.3299A>G n.3523A>G c.2095A>G (p.Arg699Gly) c.1870A>G (p.Arg624Gly) c.2965A>G (p.Arg989Gly) n.380A>G c.1022-1638A>G c.*261A>G (n.*261A>G) n.3904A>G n.2505A>G c.3016A>G (p.Arg1006Gly) n.506A>G c.3064A>G (p.Arg1022Gly) c.3124A>G (p.Arg1042Gly) c.2674A>G (p.Arg892Gly) c.976A>G (p.Arg326Gly) c.877-1638A>G (n.877-1638A>G) c.3025A>G (p.Arg1009Gly) c.3061-1638A>G (n.3061-1638A>G) c.2746A>G (p.Arg916Gly) c.2731-1638A>G (n.2731-1638A>G) c.1828A>G (p.Arg610Gly) n.3379A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944192T>G | CA6988791 | ATP7B | c.*894-1638A>C (n.*894-1638A>C) c.*1904A>C (n.*1904A>C) c.2539A>C (p.Arg847=) c.3160A>C (p.Arg1054=) c.2827A>C (p.Arg943=) c.2908A>C (p.Arg970=) c.2926A>C (p.Arg976=) n.3299A>C n.3523A>C c.2095A>C (p.Arg699=) c.1870A>C (p.Arg624=) c.2965A>C (p.Arg989=) n.380A>C c.1022-1638A>C c.*261A>C (n.*261A>C) n.3904A>C n.2505A>C c.3016A>C (p.Arg1006=) n.506A>C c.3064A>C (p.Arg1022=) c.3124A>C (p.Arg1042=) c.2674A>C (p.Arg892=) c.976A>C (p.Arg326=) c.877-1638A>C (n.877-1638A>C) c.3025A>C (p.Arg1009=) c.3061-1638A>C (n.3061-1638A>C) c.2746A>C (p.Arg916=) c.2731-1638A>C (n.2731-1638A>C) c.1828A>C (p.Arg610=) n.3379A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944192T= | CA2091563924 | ATP7B | c.*894-1638A= (n.*894-1638A=) c.*1904A= (n.*1904A=) c.2539A= (p.Arg847=) c.3160A= (p.Arg1054=) c.2827A= (p.Arg943=) c.2908A= (p.Arg970=) c.2926A= (p.Arg976=) n.3299A= n.3523A= c.2095A= (p.Arg699=) c.1870A= (p.Arg624=) c.2965A= (p.Arg989=) n.380A= c.1022-1638A= c.*261A= (n.*261A=) n.3904A= n.2505A= c.3016A= (p.Arg1006=) n.506A= c.3064A= (p.Arg1022=) c.3124A= (p.Arg1042=) c.2674A= (p.Arg892=) c.976A= (p.Arg326=) c.877-1638A= (n.877-1638A=) c.3025A= (p.Arg1009=) c.3061-1638A= (n.3061-1638A=) c.2746A= (p.Arg916=) c.2731-1638A= (n.2731-1638A=) c.1828A= (p.Arg610=) n.3379A= | |
13 | g.51944193G>A | CA483894700 | ATP7B | c.*894-1639C>T (n.*894-1639C>T) c.*1903C>T (n.*1903C>T) c.2538C>T (p.Leu846=) c.3159C>T (p.Leu1053=) c.2826C>T (p.Leu942=) c.2907C>T (p.Leu969=) c.2925C>T (p.Leu975=) n.3298C>T n.3522C>T c.2094C>T (p.Leu698=) c.1869C>T (p.Leu623=) c.2964C>T (p.Leu988=) n.379C>T c.1022-1639C>T c.*260C>T (n.*260C>T) n.3903C>T n.2504C>T c.3015C>T (p.Leu1005=) n.505C>T c.3063C>T (p.Leu1021=) c.3123C>T (p.Leu1041=) c.2673C>T (p.Leu891=) c.975C>T (p.Leu325=) c.877-1639C>T (n.877-1639C>T) c.3024C>T (p.Leu1008=) c.3061-1639C>T (n.3061-1639C>T) c.2745C>T (p.Leu915=) c.2731-1639C>T (n.2731-1639C>T) c.1827C>T (p.Leu609=) n.3378C>T | |
13 | g.51944193G>C | CA483894701 | ATP7B | c.*894-1639C>G (n.*894-1639C>G) c.*1903C>G (n.*1903C>G) c.2538C>G (p.Leu846=) c.3159C>G (p.Leu1053=) c.2826C>G (p.Leu942=) c.2907C>G (p.Leu969=) c.2925C>G (p.Leu975=) n.3298C>G n.3522C>G c.2094C>G (p.Leu698=) c.1869C>G (p.Leu623=) c.2964C>G (p.Leu988=) n.379C>G c.1022-1639C>G c.*260C>G (n.*260C>G) n.3903C>G n.2504C>G c.3015C>G (p.Leu1005=) n.505C>G c.3063C>G (p.Leu1021=) c.3123C>G (p.Leu1041=) c.2673C>G (p.Leu891=) c.975C>G (p.Leu325=) c.877-1639C>G (n.877-1639C>G) c.3024C>G (p.Leu1008=) c.3061-1639C>G (n.3061-1639C>G) c.2745C>G (p.Leu915=) c.2731-1639C>G (n.2731-1639C>G) c.1827C>G (p.Leu609=) n.3378C>G | gnomAD v4 |
13 | g.51944193G>T | CA483894702 | ATP7B | c.*894-1639C>A (n.*894-1639C>A) c.*1903C>A (n.*1903C>A) c.2538C>A (p.Leu846=) c.3159C>A (p.Leu1053=) c.2826C>A (p.Leu942=) c.2907C>A (p.Leu969=) c.2925C>A (p.Leu975=) n.3298C>A n.3522C>A c.2094C>A (p.Leu698=) c.1869C>A (p.Leu623=) c.2964C>A (p.Leu988=) n.379C>A c.1022-1639C>A c.*260C>A (n.*260C>A) n.3903C>A n.2504C>A c.3015C>A (p.Leu1005=) n.505C>A c.3063C>A (p.Leu1021=) c.3123C>A (p.Leu1041=) c.2673C>A (p.Leu891=) c.975C>A (p.Leu325=) c.877-1639C>A (n.877-1639C>A) c.3024C>A (p.Leu1008=) c.3061-1639C>A (n.3061-1639C>A) c.2745C>A (p.Leu915=) c.2731-1639C>A (n.2731-1639C>A) c.1827C>A (p.Leu609=) n.3378C>A | |
13 | g.51944194A= | CA2091563932 | ATP7B | c.*894-1640T= (n.*894-1640T=) c.*1902T= (n.*1902T=) c.2537T= (p.Leu846=) c.3158T= (p.Leu1053=) c.2825T= (p.Leu942=) c.2906T= (p.Leu969=) c.2924T= (p.Leu975=) n.3297T= n.3521T= c.2093T= (p.Leu698=) c.1868T= (p.Leu623=) c.2963T= (p.Leu988=) n.378T= c.1022-1640T= c.*259T= (n.*259T=) n.3902T= n.2503T= c.3014T= (p.Leu1005=) n.504T= c.3062T= (p.Leu1021=) c.3122T= (p.Leu1041=) c.2672T= (p.Leu891=) c.974T= (p.Leu325=) c.877-1640T= (n.877-1640T=) c.3023T= (p.Leu1008=) c.3061-1640T= (n.3061-1640T=) c.2744T= (p.Leu915=) c.2731-1640T= (n.2731-1640T=) c.1826T= (p.Leu609=) n.3377T= | |
13 | g.51944194A>C | CA388030103 | ATP7B | c.*894-1640T>G (n.*894-1640T>G) c.*1902T>G (n.*1902T>G) c.2537T>G (p.Leu846Arg) c.3158T>G (p.Leu1053Arg) c.2825T>G (p.Leu942Arg) c.2906T>G (p.Leu969Arg) c.2924T>G (p.Leu975Arg) n.3297T>G n.3521T>G c.2093T>G (p.Leu698Arg) c.1868T>G (p.Leu623Arg) c.2963T>G (p.Leu988Arg) n.378T>G c.1022-1640T>G c.*259T>G (n.*259T>G) n.3902T>G n.2503T>G c.3014T>G (p.Leu1005Arg) n.504T>G c.3062T>G (p.Leu1021Arg) c.3122T>G (p.Leu1041Arg) c.2672T>G (p.Leu891Arg) c.974T>G (p.Leu325Arg) c.877-1640T>G (n.877-1640T>G) c.3023T>G (p.Leu1008Arg) c.3061-1640T>G (n.3061-1640T>G) c.2744T>G (p.Leu915Arg) c.2731-1640T>G (n.2731-1640T>G) c.1826T>G (p.Leu609Arg) n.3377T>G | |
13 | g.51944194A>G | CA388030104 | ATP7B | c.*894-1640T>C (n.*894-1640T>C) c.*1902T>C (n.*1902T>C) c.2537T>C (p.Leu846Pro) c.3158T>C (p.Leu1053Pro) c.2825T>C (p.Leu942Pro) c.2906T>C (p.Leu969Pro) c.2924T>C (p.Leu975Pro) n.3297T>C n.3521T>C c.2093T>C (p.Leu698Pro) c.1868T>C (p.Leu623Pro) c.2963T>C (p.Leu988Pro) n.378T>C c.1022-1640T>C c.*259T>C (n.*259T>C) n.3902T>C n.2503T>C c.3014T>C (p.Leu1005Pro) n.504T>C c.3062T>C (p.Leu1021Pro) c.3122T>C (p.Leu1041Pro) c.2672T>C (p.Leu891Pro) c.974T>C (p.Leu325Pro) c.877-1640T>C (n.877-1640T>C) c.3023T>C (p.Leu1008Pro) c.3061-1640T>C (n.3061-1640T>C) c.2744T>C (p.Leu915Pro) c.2731-1640T>C (n.2731-1640T>C) c.1826T>C (p.Leu609Pro) n.3377T>C | |
13 | g.51944194A>T | CA388030106 | ATP7B | c.*894-1640T>A (n.*894-1640T>A) c.*1902T>A (n.*1902T>A) c.2537T>A (p.Leu846His) c.3158T>A (p.Leu1053His) c.2825T>A (p.Leu942His) c.2906T>A (p.Leu969His) c.2924T>A (p.Leu975His) n.3297T>A n.3521T>A c.2093T>A (p.Leu698His) c.1868T>A (p.Leu623His) c.2963T>A (p.Leu988His) n.378T>A c.1022-1640T>A c.*259T>A (n.*259T>A) n.3902T>A n.2503T>A c.3014T>A (p.Leu1005His) n.504T>A c.3062T>A (p.Leu1021His) c.3122T>A (p.Leu1041His) c.2672T>A (p.Leu891His) c.974T>A (p.Leu325His) c.877-1640T>A (n.877-1640T>A) c.3023T>A (p.Leu1008His) c.3061-1640T>A (n.3061-1640T>A) c.2744T>A (p.Leu915His) c.2731-1640T>A (n.2731-1640T>A) c.1826T>A (p.Leu609His) n.3377T>A | |
13 | g.51944194dup | CA912974797 | ATP7B | c.*894-1640dup (n.*894-1640dup) c.*1902dup (n.*1902dup) c.2537dup (p.Arg847GlnfsTer15) c.3158dup (p.Arg1054GlnfsTer15) c.2825dup (p.Arg943GlnfsTer15) c.2906dup (p.Arg970GlnfsTer15) c.2924dup (p.Arg976GlnfsTer15) n.3297dup n.3521dup c.2093dup (p.Arg699GlnfsTer15) c.1868dup (p.Arg624GlnfsTer15) c.2963dup (p.Arg989GlnfsTer15) n.378dup c.1022-1640dup c.*259dup (n.*259dup) n.3902dup n.2503dup c.3014dup (p.Arg1006GlnfsTer15) n.504dup c.3062dup (p.Arg1022GlnfsTer15) c.3122dup (p.Arg1042GlnfsTer15) c.2672dup (p.Arg892GlnfsTer15) c.974dup (p.Arg326GlnfsTer15) c.877-1640dup (n.877-1640dup) c.3023dup (p.Arg1009GlnfsTer15) c.3061-1640dup (n.3061-1640dup) c.2744dup (p.Arg916GlnfsTer15) c.2731-1640dup (n.2731-1640dup) c.1826dup (p.Arg610GlnfsTer15) n.3377dup | |
13 | g.51944195G>A | CA388030108 | ATP7B | c.*894-1641C>T (n.*894-1641C>T) c.*1901C>T (n.*1901C>T) c.2536C>T (p.Leu846Phe) c.3157C>T (p.Leu1053Phe) c.2824C>T (p.Leu942Phe) c.2905C>T (p.Leu969Phe) c.2923C>T (p.Leu975Phe) n.3296C>T n.3520C>T c.2092C>T (p.Leu698Phe) c.1867C>T (p.Leu623Phe) c.2962C>T (p.Leu988Phe) n.377C>T c.1022-1641C>T c.*258C>T (n.*258C>T) n.3901C>T n.2502C>T c.3013C>T (p.Leu1005Phe) n.503C>T c.3061C>T (p.Leu1021Phe) c.3121C>T (p.Leu1041Phe) c.2671C>T (p.Leu891Phe) c.973C>T (p.Leu325Phe) c.877-1641C>T (n.877-1641C>T) c.3022C>T (p.Leu1008Phe) c.3061-1641C>T (n.3061-1641C>T) c.2743C>T (p.Leu915Phe) c.2731-1641C>T (n.2731-1641C>T) c.1825C>T (p.Leu609Phe) n.3376C>T | dbSNP gnomAD v4 |
13 | g.51944195G>C | CA388030109 | ATP7B | c.*894-1641C>G (n.*894-1641C>G) c.*1901C>G (n.*1901C>G) c.2536C>G (p.Leu846Val) c.3157C>G (p.Leu1053Val) c.2824C>G (p.Leu942Val) c.2905C>G (p.Leu969Val) c.2923C>G (p.Leu975Val) n.3296C>G n.3520C>G c.2092C>G (p.Leu698Val) c.1867C>G (p.Leu623Val) c.2962C>G (p.Leu988Val) n.377C>G c.1022-1641C>G c.*258C>G (n.*258C>G) n.3901C>G n.2502C>G c.3013C>G (p.Leu1005Val) n.503C>G c.3061C>G (p.Leu1021Val) c.3121C>G (p.Leu1041Val) c.2671C>G (p.Leu891Val) c.973C>G (p.Leu325Val) c.877-1641C>G (n.877-1641C>G) c.3022C>G (p.Leu1008Val) c.3061-1641C>G (n.3061-1641C>G) c.2743C>G (p.Leu915Val) c.2731-1641C>G (n.2731-1641C>G) c.1825C>G (p.Leu609Val) n.3376C>G | |
13 | g.51944195G= | CA2091563937 | ATP7B | c.*894-1641C= (n.*894-1641C=) c.*1901C= (n.*1901C=) c.2536C= (p.Leu846=) c.3157C= (p.Leu1053=) c.2824C= (p.Leu942=) c.2905C= (p.Leu969=) c.2923C= (p.Leu975=) n.3296C= n.3520C= c.2092C= (p.Leu698=) c.1867C= (p.Leu623=) c.2962C= (p.Leu988=) n.377C= c.1022-1641C= c.*258C= (n.*258C=) n.3901C= n.2502C= c.3013C= (p.Leu1005=) n.503C= c.3061C= (p.Leu1021=) c.3121C= (p.Leu1041=) c.2671C= (p.Leu891=) c.973C= (p.Leu325=) c.877-1641C= (n.877-1641C=) c.3022C= (p.Leu1008=) c.3061-1641C= (n.3061-1641C=) c.2743C= (p.Leu915=) c.2731-1641C= (n.2731-1641C=) c.1825C= (p.Leu609=) n.3376C= | |
13 | g.51944195G>T | CA388030110 | ATP7B | c.*894-1641C>A (n.*894-1641C>A) c.*1901C>A (n.*1901C>A) c.2536C>A (p.Leu846Ile) c.3157C>A (p.Leu1053Ile) c.2824C>A (p.Leu942Ile) c.2905C>A (p.Leu969Ile) c.2923C>A (p.Leu975Ile) n.3296C>A n.3520C>A c.2092C>A (p.Leu698Ile) c.1867C>A (p.Leu623Ile) c.2962C>A (p.Leu988Ile) n.377C>A c.1022-1641C>A c.*258C>A (n.*258C>A) n.3901C>A n.2502C>A c.3013C>A (p.Leu1005Ile) n.503C>A c.3061C>A (p.Leu1021Ile) c.3121C>A (p.Leu1041Ile) c.2671C>A (p.Leu891Ile) c.973C>A (p.Leu325Ile) c.877-1641C>A (n.877-1641C>A) c.3022C>A (p.Leu1008Ile) c.3061-1641C>A (n.3061-1641C>A) c.2743C>A (p.Leu915Ile) c.2731-1641C>A (n.2731-1641C>A) c.1825C>A (p.Leu609Ile) n.3376C>A | |
13 | g.51944198dup | CA658823705 | ATP7B | c.*894-1641dup (n.*894-1641dup) c.*1901dup (n.*1901dup) c.2536dup (p.Leu846ProfsTer16) c.3157dup (p.Leu1053ProfsTer16) c.2824dup (p.Leu942ProfsTer16) c.2905dup (p.Leu969ProfsTer16) c.2923dup (p.Leu975ProfsTer16) n.3296dup n.3520dup c.2092dup (p.Leu698ProfsTer16) c.1867dup (p.Leu623ProfsTer16) c.2962dup (p.Leu988ProfsTer16) n.377dup c.1022-1641dup c.*258dup (n.*258dup) n.3901dup n.2502dup c.3013dup (p.Leu1005ProfsTer16) n.503dup c.3061dup (p.Leu1021ProfsTer16) c.3121dup (p.Leu1041ProfsTer16) c.2671dup (p.Leu891ProfsTer16) c.973dup (p.Leu325ProfsTer16) c.877-1641dup (n.877-1641dup) c.3022dup (p.Leu1008ProfsTer16) c.3061-1641dup (n.3061-1641dup) c.2743dup (p.Leu915ProfsTer16) c.2731-1641dup (n.2731-1641dup) c.1825dup (p.Leu609ProfsTer16) n.3376dup | ClinVar dbSNP |
13 | g.51944196G>A | CA483894703 | ATP7B | c.*894-1642C>T (n.*894-1642C>T) c.*1900C>T (n.*1900C>T) c.2535C>T (p.Pro845=) c.3156C>T (p.Pro1052=) c.2823C>T (p.Pro941=) c.2904C>T (p.Pro968=) c.2922C>T (p.Pro974=) n.3295C>T n.3519C>T c.2091C>T (p.Pro697=) c.1866C>T (p.Pro622=) c.2961C>T (p.Pro987=) n.376C>T c.1022-1642C>T c.*257C>T (n.*257C>T) n.3900C>T n.2501C>T c.3012C>T (p.Pro1004=) n.502C>T c.3060C>T (p.Pro1020=) c.3120C>T (p.Pro1040=) c.2670C>T (p.Pro890=) c.972C>T (p.Pro324=) c.877-1642C>T (n.877-1642C>T) c.3021C>T (p.Pro1007=) c.3061-1642C>T (n.3061-1642C>T) c.2742C>T (p.Pro914=) c.2731-1642C>T (n.2731-1642C>T) c.1824C>T (p.Pro608=) n.3375C>T | gnomAD v4 |
13 | g.51944196G>C | CA483894704 | ATP7B | c.*894-1642C>G (n.*894-1642C>G) c.*1900C>G (n.*1900C>G) c.2535C>G (p.Pro845=) c.3156C>G (p.Pro1052=) c.2823C>G (p.Pro941=) c.2904C>G (p.Pro968=) c.2922C>G (p.Pro974=) n.3295C>G n.3519C>G c.2091C>G (p.Pro697=) c.1866C>G (p.Pro622=) c.2961C>G (p.Pro987=) n.376C>G c.1022-1642C>G c.*257C>G (n.*257C>G) n.3900C>G n.2501C>G c.3012C>G (p.Pro1004=) n.502C>G c.3060C>G (p.Pro1020=) c.3120C>G (p.Pro1040=) c.2670C>G (p.Pro890=) c.972C>G (p.Pro324=) c.877-1642C>G (n.877-1642C>G) c.3021C>G (p.Pro1007=) c.3061-1642C>G (n.3061-1642C>G) c.2742C>G (p.Pro914=) c.2731-1642C>G (n.2731-1642C>G) c.1824C>G (p.Pro608=) n.3375C>G | |
13 | g.51944196G>T | CA483894705 | ATP7B | c.*894-1642C>A (n.*894-1642C>A) c.*1900C>A (n.*1900C>A) c.2535C>A (p.Pro845=) c.3156C>A (p.Pro1052=) c.2823C>A (p.Pro941=) c.2904C>A (p.Pro968=) c.2922C>A (p.Pro974=) n.3295C>A n.3519C>A c.2091C>A (p.Pro697=) c.1866C>A (p.Pro622=) c.2961C>A (p.Pro987=) n.376C>A c.1022-1642C>A c.*257C>A (n.*257C>A) n.3900C>A n.2501C>A c.3012C>A (p.Pro1004=) n.502C>A c.3060C>A (p.Pro1020=) c.3120C>A (p.Pro1040=) c.2670C>A (p.Pro890=) c.972C>A (p.Pro324=) c.877-1642C>A (n.877-1642C>A) c.3021C>A (p.Pro1007=) c.3061-1642C>A (n.3061-1642C>A) c.2742C>A (p.Pro914=) c.2731-1642C>A (n.2731-1642C>A) c.1824C>A (p.Pro608=) n.3375C>A | |
13 | g.51944197G>A | CA6988793 | ATP7B | c.*894-1643C>T (n.*894-1643C>T) c.*1899C>T (n.*1899C>T) c.2534C>T (p.Pro845Leu) c.3155C>T (p.Pro1052Leu) c.2822C>T (p.Pro941Leu) c.2903C>T (p.Pro968Leu) c.2921C>T (p.Pro974Leu) n.3294C>T n.3518C>T c.2090C>T (p.Pro697Leu) c.1865C>T (p.Pro622Leu) c.2960C>T (p.Pro987Leu) n.375C>T c.1022-1643C>T c.*256C>T (n.*256C>T) n.3899C>T n.2500C>T c.3011C>T (p.Pro1004Leu) n.501C>T c.3059C>T (p.Pro1020Leu) c.3119C>T (p.Pro1040Leu) c.2669C>T (p.Pro890Leu) c.971C>T (p.Pro324Leu) c.877-1643C>T (n.877-1643C>T) c.3020C>T (p.Pro1007Leu) c.3061-1643C>T (n.3061-1643C>T) c.2741C>T (p.Pro914Leu) c.2731-1643C>T (n.2731-1643C>T) c.1823C>T (p.Pro608Leu) n.3374C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
13 | g.51944197G>C | CA388030115 | ATP7B | c.*894-1643C>G (n.*894-1643C>G) c.*1899C>G (n.*1899C>G) c.2534C>G (p.Pro845Arg) c.3155C>G (p.Pro1052Arg) c.2822C>G (p.Pro941Arg) c.2903C>G (p.Pro968Arg) c.2921C>G (p.Pro974Arg) n.3294C>G n.3518C>G c.2090C>G (p.Pro697Arg) c.1865C>G (p.Pro622Arg) c.2960C>G (p.Pro987Arg) n.375C>G c.1022-1643C>G c.*256C>G (n.*256C>G) n.3899C>G n.2500C>G c.3011C>G (p.Pro1004Arg) n.501C>G c.3059C>G (p.Pro1020Arg) c.3119C>G (p.Pro1040Arg) c.2669C>G (p.Pro890Arg) c.971C>G (p.Pro324Arg) c.877-1643C>G (n.877-1643C>G) c.3020C>G (p.Pro1007Arg) c.3061-1643C>G (n.3061-1643C>G) c.2741C>G (p.Pro914Arg) c.2731-1643C>G (n.2731-1643C>G) c.1823C>G (p.Pro608Arg) n.3374C>G | |
13 | g.51944197G= | CA2091563942 | ATP7B | c.*894-1643C= (n.*894-1643C=) c.*1899C= (n.*1899C=) c.2534C= (p.Pro845=) c.3155C= (p.Pro1052=) c.2822C= (p.Pro941=) c.2903C= (p.Pro968=) c.2921C= (p.Pro974=) n.3294C= n.3518C= c.2090C= (p.Pro697=) c.1865C= (p.Pro622=) c.2960C= (p.Pro987=) n.375C= c.1022-1643C= c.*256C= (n.*256C=) n.3899C= n.2500C= c.3011C= (p.Pro1004=) n.501C= c.3059C= (p.Pro1020=) c.3119C= (p.Pro1040=) c.2669C= (p.Pro890=) c.971C= (p.Pro324=) c.877-1643C= (n.877-1643C=) c.3020C= (p.Pro1007=) c.3061-1643C= (n.3061-1643C=) c.2741C= (p.Pro914=) c.2731-1643C= (n.2731-1643C=) c.1823C= (p.Pro608=) n.3374C= | |
13 | g.51944197G>T | CA388030114 | ATP7B | c.*894-1643C>A (n.*894-1643C>A) c.*1899C>A (n.*1899C>A) c.2534C>A (p.Pro845His) c.3155C>A (p.Pro1052His) c.2822C>A (p.Pro941His) c.2903C>A (p.Pro968His) c.2921C>A (p.Pro974His) n.3294C>A n.3518C>A c.2090C>A (p.Pro697His) c.1865C>A (p.Pro622His) c.2960C>A (p.Pro987His) n.375C>A c.1022-1643C>A c.*256C>A (n.*256C>A) n.3899C>A n.2500C>A c.3011C>A (p.Pro1004His) n.501C>A c.3059C>A (p.Pro1020His) c.3119C>A (p.Pro1040His) c.2669C>A (p.Pro890His) c.971C>A (p.Pro324His) c.877-1643C>A (n.877-1643C>A) c.3020C>A (p.Pro1007His) c.3061-1643C>A (n.3061-1643C>A) c.2741C>A (p.Pro914His) c.2731-1643C>A (n.2731-1643C>A) c.1823C>A (p.Pro608His) n.3374C>A | |
13 | g.51944198G>A | CA388030124 | ATP7B | c.*894-1644C>T (n.*894-1644C>T) c.*1898C>T (n.*1898C>T) c.2533C>T (p.Pro845Ser) c.3154C>T (p.Pro1052Ser) c.2821C>T (p.Pro941Ser) c.2902C>T (p.Pro968Ser) c.2920C>T (p.Pro974Ser) n.3293C>T n.3517C>T c.2089C>T (p.Pro697Ser) c.1864C>T (p.Pro622Ser) c.2959C>T (p.Pro987Ser) n.374C>T c.1022-1644C>T c.*255C>T (n.*255C>T) n.3898C>T n.2499C>T c.3010C>T (p.Pro1004Ser) n.500C>T c.3058C>T (p.Pro1020Ser) c.3118C>T (p.Pro1040Ser) c.2668C>T (p.Pro890Ser) c.970C>T (p.Pro324Ser) c.877-1644C>T (n.877-1644C>T) c.3019C>T (p.Pro1007Ser) c.3061-1644C>T (n.3061-1644C>T) c.2740C>T (p.Pro914Ser) c.2731-1644C>T (n.2731-1644C>T) c.1822C>T (p.Pro608Ser) n.3373C>T | |
13 | g.51944198G>C | CA388030126 | ATP7B | c.*894-1644C>G (n.*894-1644C>G) c.*1898C>G (n.*1898C>G) c.2533C>G (p.Pro845Ala) c.3154C>G (p.Pro1052Ala) c.2821C>G (p.Pro941Ala) c.2902C>G (p.Pro968Ala) c.2920C>G (p.Pro974Ala) n.3293C>G n.3517C>G c.2089C>G (p.Pro697Ala) c.1864C>G (p.Pro622Ala) c.2959C>G (p.Pro987Ala) n.374C>G c.1022-1644C>G c.*255C>G (n.*255C>G) n.3898C>G n.2499C>G c.3010C>G (p.Pro1004Ala) n.500C>G c.3058C>G (p.Pro1020Ala) c.3118C>G (p.Pro1040Ala) c.2668C>G (p.Pro890Ala) c.970C>G (p.Pro324Ala) c.877-1644C>G (n.877-1644C>G) c.3019C>G (p.Pro1007Ala) c.3061-1644C>G (n.3061-1644C>G) c.2740C>G (p.Pro914Ala) c.2731-1644C>G (n.2731-1644C>G) c.1822C>G (p.Pro608Ala) n.3373C>G | |
13 | g.51944198G>T | CA388030128 | ATP7B | c.*894-1644C>A (n.*894-1644C>A) c.*1898C>A (n.*1898C>A) c.2533C>A (p.Pro845Thr) c.3154C>A (p.Pro1052Thr) c.2821C>A (p.Pro941Thr) c.2902C>A (p.Pro968Thr) c.2920C>A (p.Pro974Thr) n.3293C>A n.3517C>A c.2089C>A (p.Pro697Thr) c.1864C>A (p.Pro622Thr) c.2959C>A (p.Pro987Thr) n.374C>A c.1022-1644C>A c.*255C>A (n.*255C>A) n.3898C>A n.2499C>A c.3010C>A (p.Pro1004Thr) n.500C>A c.3058C>A (p.Pro1020Thr) c.3118C>A (p.Pro1040Thr) c.2668C>A (p.Pro890Thr) c.970C>A (p.Pro324Thr) c.877-1644C>A (n.877-1644C>A) c.3019C>A (p.Pro1007Thr) c.3061-1644C>A (n.3061-1644C>A) c.2740C>A (p.Pro914Thr) c.2731-1644C>A (n.2731-1644C>A) c.1822C>A (p.Pro608Thr) n.3373C>A | |
13 | g.51944199C>A | CA483894706 | ATP7B | c.*894-1645G>T (n.*894-1645G>T) c.*1897G>T (n.*1897G>T) c.2532G>T (p.Leu844=) c.3153G>T (p.Leu1051=) c.2820G>T (p.Leu940=) c.2901G>T (p.Leu967=) c.2919G>T (p.Leu973=) n.3292G>T n.3516G>T c.2088G>T (p.Leu696=) c.1863G>T (p.Leu621=) c.2958G>T (p.Leu986=) n.373G>T c.1022-1645G>T c.*254G>T (n.*254G>T) n.3897G>T n.2498G>T c.3009G>T (p.Leu1003=) n.499G>T c.3057G>T (p.Leu1019=) c.3117G>T (p.Leu1039=) c.2667G>T (p.Leu889=) c.969G>T (p.Leu323=) c.877-1645G>T (n.877-1645G>T) c.3018G>T (p.Leu1006=) c.3061-1645G>T (n.3061-1645G>T) c.2739G>T (p.Leu913=) c.2731-1645G>T (n.2731-1645G>T) c.1821G>T (p.Leu607=) n.3372G>T | |
13 | g.51944199C= | CA2091563949 | ATP7B | c.*894-1645G= (n.*894-1645G=) c.*1897G= (n.*1897G=) c.2532G= (p.Leu844=) c.3153G= (p.Leu1051=) c.2820G= (p.Leu940=) c.2901G= (p.Leu967=) c.2919G= (p.Leu973=) n.3292G= n.3516G= c.2088G= (p.Leu696=) c.1863G= (p.Leu621=) c.2958G= (p.Leu986=) n.373G= c.1022-1645G= c.*254G= (n.*254G=) n.3897G= n.2498G= c.3009G= (p.Leu1003=) n.499G= c.3057G= (p.Leu1019=) c.3117G= (p.Leu1039=) c.2667G= (p.Leu889=) c.969G= (p.Leu323=) c.877-1645G= (n.877-1645G=) c.3018G= (p.Leu1006=) c.3061-1645G= (n.3061-1645G=) c.2739G= (p.Leu913=) c.2731-1645G= (n.2731-1645G=) c.1821G= (p.Leu607=) n.3372G= | |
13 | g.51944199C>G | CA483894707 | ATP7B | c.*894-1645G>C (n.*894-1645G>C) c.*1897G>C (n.*1897G>C) c.2532G>C (p.Leu844=) c.3153G>C (p.Leu1051=) c.2820G>C (p.Leu940=) c.2901G>C (p.Leu967=) c.2919G>C (p.Leu973=) n.3292G>C n.3516G>C c.2088G>C (p.Leu696=) c.1863G>C (p.Leu621=) c.2958G>C (p.Leu986=) n.373G>C c.1022-1645G>C c.*254G>C (n.*254G>C) n.3897G>C n.2498G>C c.3009G>C (p.Leu1003=) n.499G>C c.3057G>C (p.Leu1019=) c.3117G>C (p.Leu1039=) c.2667G>C (p.Leu889=) c.969G>C (p.Leu323=) c.877-1645G>C (n.877-1645G>C) c.3018G>C (p.Leu1006=) c.3061-1645G>C (n.3061-1645G>C) c.2739G>C (p.Leu913=) c.2731-1645G>C (n.2731-1645G>C) c.1821G>C (p.Leu607=) n.3372G>C | |
13 | g.51944199C>T | CA483894708 | ATP7B | c.*894-1645G>A (n.*894-1645G>A) c.*1897G>A (n.*1897G>A) c.2532G>A (p.Leu844=) c.3153G>A (p.Leu1051=) c.2820G>A (p.Leu940=) c.2901G>A (p.Leu967=) c.2919G>A (p.Leu973=) n.3292G>A n.3516G>A c.2088G>A (p.Leu696=) c.1863G>A (p.Leu621=) c.2958G>A (p.Leu986=) n.373G>A c.1022-1645G>A c.*254G>A (n.*254G>A) n.3897G>A n.2498G>A c.3009G>A (p.Leu1003=) n.499G>A c.3057G>A (p.Leu1019=) c.3117G>A (p.Leu1039=) c.2667G>A (p.Leu889=) c.969G>A (p.Leu323=) c.877-1645G>A (n.877-1645G>A) c.3018G>A (p.Leu1006=) c.3061-1645G>A (n.3061-1645G>A) c.2739G>A (p.Leu913=) c.2731-1645G>A (n.2731-1645G>A) c.1821G>A (p.Leu607=) n.3372G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944200A= | CA2091563951 | ATP7B | c.*894-1646T= (n.*894-1646T=) c.*1896T= (n.*1896T=) c.2531T= (p.Leu844=) c.3152T= (p.Leu1051=) c.2819T= (p.Leu940=) c.2900T= (p.Leu967=) c.2918T= (p.Leu973=) n.3291T= n.3515T= c.2087T= (p.Leu696=) c.1862T= (p.Leu621=) c.2957T= (p.Leu986=) n.372T= c.1022-1646T= c.*253T= (n.*253T=) n.3896T= n.2497T= c.3008T= (p.Leu1003=) n.498T= c.3056T= (p.Leu1019=) c.3116T= (p.Leu1039=) c.2666T= (p.Leu889=) c.968T= (p.Leu323=) c.877-1646T= (n.877-1646T=) c.3017T= (p.Leu1006=) c.3061-1646T= (n.3061-1646T=) c.2738T= (p.Leu913=) c.2731-1646T= (n.2731-1646T=) c.1820T= (p.Leu607=) n.3371T= | |
13 | g.51944200A>C | CA250080182 | ATP7B | c.*894-1646T>G (n.*894-1646T>G) c.*1896T>G (n.*1896T>G) c.2531T>G (p.Leu844Arg) c.3152T>G (p.Leu1051Arg) c.2819T>G (p.Leu940Arg) c.2900T>G (p.Leu967Arg) c.2918T>G (p.Leu973Arg) n.3291T>G n.3515T>G c.2087T>G (p.Leu696Arg) c.1862T>G (p.Leu621Arg) c.2957T>G (p.Leu986Arg) n.372T>G c.1022-1646T>G c.*253T>G (n.*253T>G) n.3896T>G n.2497T>G c.3008T>G (p.Leu1003Arg) n.498T>G c.3056T>G (p.Leu1019Arg) c.3116T>G (p.Leu1039Arg) c.2666T>G (p.Leu889Arg) c.968T>G (p.Leu323Arg) c.877-1646T>G (n.877-1646T>G) c.3017T>G (p.Leu1006Arg) c.3061-1646T>G (n.3061-1646T>G) c.2738T>G (p.Leu913Arg) c.2731-1646T>G (n.2731-1646T>G) c.1820T>G (p.Leu607Arg) n.3371T>G | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51944200A>G | CA388030130 | ATP7B | c.*894-1646T>C (n.*894-1646T>C) c.*1896T>C (n.*1896T>C) c.2531T>C (p.Leu844Pro) c.3152T>C (p.Leu1051Pro) c.2819T>C (p.Leu940Pro) c.2900T>C (p.Leu967Pro) c.2918T>C (p.Leu973Pro) n.3291T>C n.3515T>C c.2087T>C (p.Leu696Pro) c.1862T>C (p.Leu621Pro) c.2957T>C (p.Leu986Pro) n.372T>C c.1022-1646T>C c.*253T>C (n.*253T>C) n.3896T>C n.2497T>C c.3008T>C (p.Leu1003Pro) n.498T>C c.3056T>C (p.Leu1019Pro) c.3116T>C (p.Leu1039Pro) c.2666T>C (p.Leu889Pro) c.968T>C (p.Leu323Pro) c.877-1646T>C (n.877-1646T>C) c.3017T>C (p.Leu1006Pro) c.3061-1646T>C (n.3061-1646T>C) c.2738T>C (p.Leu913Pro) c.2731-1646T>C (n.2731-1646T>C) c.1820T>C (p.Leu607Pro) n.3371T>C | |
13 | g.51944200A>T | CA388030133 | ATP7B | c.*894-1646T>A (n.*894-1646T>A) c.*1896T>A (n.*1896T>A) c.2531T>A (p.Leu844Gln) c.3152T>A (p.Leu1051Gln) c.2819T>A (p.Leu940Gln) c.2900T>A (p.Leu967Gln) c.2918T>A (p.Leu973Gln) n.3291T>A n.3515T>A c.2087T>A (p.Leu696Gln) c.1862T>A (p.Leu621Gln) c.2957T>A (p.Leu986Gln) n.372T>A c.1022-1646T>A c.*253T>A (n.*253T>A) n.3896T>A n.2497T>A c.3008T>A (p.Leu1003Gln) n.498T>A c.3056T>A (p.Leu1019Gln) c.3116T>A (p.Leu1039Gln) c.2666T>A (p.Leu889Gln) c.968T>A (p.Leu323Gln) c.877-1646T>A (n.877-1646T>A) c.3017T>A (p.Leu1006Gln) c.3061-1646T>A (n.3061-1646T>A) c.2738T>A (p.Leu913Gln) c.2731-1646T>A (n.2731-1646T>A) c.1820T>A (p.Leu607Gln) n.3371T>A | |
13 | g.51944201G>A | CA6988794 | ATP7B | c.*894-1647C>T (n.*894-1647C>T) c.*1895C>T (n.*1895C>T) c.2530C>T (p.Leu844=) c.3151C>T (p.Leu1051=) c.2818C>T (p.Leu940=) c.2899C>T (p.Leu967=) c.2917C>T (p.Leu973=) n.3290C>T n.3514C>T c.2086C>T (p.Leu696=) c.1861C>T (p.Leu621=) c.2956C>T (p.Leu986=) n.371C>T c.1022-1647C>T c.*252C>T (n.*252C>T) n.3895C>T n.2496C>T c.3007C>T (p.Leu1003=) n.497C>T c.3055C>T (p.Leu1019=) c.3115C>T (p.Leu1039=) c.2665C>T (p.Leu889=) c.967C>T (p.Leu323=) c.877-1647C>T (n.877-1647C>T) c.3016C>T (p.Leu1006=) c.3061-1647C>T (n.3061-1647C>T) c.2737C>T (p.Leu913=) c.2731-1647C>T (n.2731-1647C>T) c.1819C>T (p.Leu607=) n.3370C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944201G>C | CA388030134 | ATP7B | c.*894-1647C>G (n.*894-1647C>G) c.*1895C>G (n.*1895C>G) c.2530C>G (p.Leu844Val) c.3151C>G (p.Leu1051Val) c.2818C>G (p.Leu940Val) c.2899C>G (p.Leu967Val) c.2917C>G (p.Leu973Val) n.3290C>G n.3514C>G c.2086C>G (p.Leu696Val) c.1861C>G (p.Leu621Val) c.2956C>G (p.Leu986Val) n.371C>G c.1022-1647C>G c.*252C>G (n.*252C>G) n.3895C>G n.2496C>G c.3007C>G (p.Leu1003Val) n.497C>G c.3055C>G (p.Leu1019Val) c.3115C>G (p.Leu1039Val) c.2665C>G (p.Leu889Val) c.967C>G (p.Leu323Val) c.877-1647C>G (n.877-1647C>G) c.3016C>G (p.Leu1006Val) c.3061-1647C>G (n.3061-1647C>G) c.2737C>G (p.Leu913Val) c.2731-1647C>G (n.2731-1647C>G) c.1819C>G (p.Leu607Val) n.3370C>G | |
13 | g.51944201G= | CA2091563955 | ATP7B | c.*894-1647C= (n.*894-1647C=) c.*1895C= (n.*1895C=) c.2530C= (p.Leu844=) c.3151C= (p.Leu1051=) c.2818C= (p.Leu940=) c.2899C= (p.Leu967=) c.2917C= (p.Leu973=) n.3290C= n.3514C= c.2086C= (p.Leu696=) c.1861C= (p.Leu621=) c.2956C= (p.Leu986=) n.371C= c.1022-1647C= c.*252C= (n.*252C=) n.3895C= n.2496C= c.3007C= (p.Leu1003=) n.497C= c.3055C= (p.Leu1019=) c.3115C= (p.Leu1039=) c.2665C= (p.Leu889=) c.967C= (p.Leu323=) c.877-1647C= (n.877-1647C=) c.3016C= (p.Leu1006=) c.3061-1647C= (n.3061-1647C=) c.2737C= (p.Leu913=) c.2731-1647C= (n.2731-1647C=) c.1819C= (p.Leu607=) n.3370C= | |
13 | g.51944201G>T | CA388030136 | ATP7B | c.*894-1647C>A (n.*894-1647C>A) c.*1895C>A (n.*1895C>A) c.2530C>A (p.Leu844Met) c.3151C>A (p.Leu1051Met) c.2818C>A (p.Leu940Met) c.2899C>A (p.Leu967Met) c.2917C>A (p.Leu973Met) n.3290C>A n.3514C>A c.2086C>A (p.Leu696Met) c.1861C>A (p.Leu621Met) c.2956C>A (p.Leu986Met) n.371C>A c.1022-1647C>A c.*252C>A (n.*252C>A) n.3895C>A n.2496C>A c.3007C>A (p.Leu1003Met) n.497C>A c.3055C>A (p.Leu1019Met) c.3115C>A (p.Leu1039Met) c.2665C>A (p.Leu889Met) c.967C>A (p.Leu323Met) c.877-1647C>A (n.877-1647C>A) c.3016C>A (p.Leu1006Met) c.3061-1647C>A (n.3061-1647C>A) c.2737C>A (p.Leu913Met) c.2731-1647C>A (n.2731-1647C>A) c.1819C>A (p.Leu607Met) n.3370C>A | |
13 | g.51944204_51944205del | CA912974798 | ATP7B | c.*894-1648_*894-1647del (n.*894-1648_*894-1647del) c.*1894_*1895del (n.*1894_*1895del) c.2529_2530del (p.Leu844AlafsTer17) c.3150_3151del (p.Leu1051AlafsTer17) c.2817_2818del (p.Leu940AlafsTer17) c.2898_2899del (p.Leu967AlafsTer17) c.2916_2917del (p.Leu973AlafsTer17) n.3289_3290del n.3513_3514del c.2085_2086del (p.Leu696AlafsTer17) c.1860_1861del (p.Leu621AlafsTer17) c.2955_2956del (p.Leu986AlafsTer17) n.370_371del c.1022-1648_1022-1647del c.*251_*252del (n.*251_*252del) n.3894_3895del n.2495_2496del c.3006_3007del (p.Leu1003AlafsTer17) n.496_497del c.3054_3055del (p.Leu1019AlafsTer17) c.3114_3115del (p.Leu1039AlafsTer17) c.2664_2665del (p.Leu889AlafsTer17) c.966_967del (p.Leu323AlafsTer17) c.877-1648_877-1647del (n.877-1648_877-1647del) c.3015_3016del (p.Leu1006AlafsTer17) c.3061-1648_3061-1647del (n.3061-1648_3061-1647del) c.2736_2737del (p.Leu913AlafsTer17) c.2731-1648_2731-1647del (n.2731-1648_2731-1647del) c.1818_1819del (p.Leu607AlafsTer17) n.3369_3370del | |
13 | g.51944202T>A | CA483894709 | ATP7B | c.*894-1648A>T (n.*894-1648A>T) c.*1894A>T (n.*1894A>T) c.2529A>T (p.Thr843=) c.3150A>T (p.Thr1050=) c.2817A>T (p.Thr939=) c.2898A>T (p.Thr966=) c.2916A>T (p.Thr972=) n.3289A>T n.3513A>T c.2085A>T (p.Thr695=) c.1860A>T (p.Thr620=) c.2955A>T (p.Thr985=) n.370A>T c.1022-1648A>T c.*251A>T (n.*251A>T) n.3894A>T n.2495A>T c.3006A>T (p.Thr1002=) n.496A>T c.3054A>T (p.Thr1018=) c.3114A>T (p.Thr1038=) c.2664A>T (p.Thr888=) c.966A>T (p.Thr322=) c.877-1648A>T (n.877-1648A>T) c.3015A>T (p.Thr1005=) c.3061-1648A>T (n.3061-1648A>T) c.2736A>T (p.Thr912=) c.2731-1648A>T (n.2731-1648A>T) c.1818A>T (p.Thr606=) n.3369A>T | |
13 | g.51944202T>C | CA6988795 | ATP7B | c.*894-1648A>G (n.*894-1648A>G) c.*1894A>G (n.*1894A>G) c.2529A>G (p.Thr843=) c.3150A>G (p.Thr1050=) c.2817A>G (p.Thr939=) c.2898A>G (p.Thr966=) c.2916A>G (p.Thr972=) n.3289A>G n.3513A>G c.2085A>G (p.Thr695=) c.1860A>G (p.Thr620=) c.2955A>G (p.Thr985=) n.370A>G c.1022-1648A>G c.*251A>G (n.*251A>G) n.3894A>G n.2495A>G c.3006A>G (p.Thr1002=) n.496A>G c.3054A>G (p.Thr1018=) c.3114A>G (p.Thr1038=) c.2664A>G (p.Thr888=) c.966A>G (p.Thr322=) c.877-1648A>G (n.877-1648A>G) c.3015A>G (p.Thr1005=) c.3061-1648A>G (n.3061-1648A>G) c.2736A>G (p.Thr912=) c.2731-1648A>G (n.2731-1648A>G) c.1818A>G (p.Thr606=) n.3369A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51944202T>G | CA483894710 | ATP7B | c.*894-1648A>C (n.*894-1648A>C) c.*1894A>C (n.*1894A>C) c.2529A>C (p.Thr843=) c.3150A>C (p.Thr1050=) c.2817A>C (p.Thr939=) c.2898A>C (p.Thr966=) c.2916A>C (p.Thr972=) n.3289A>C n.3513A>C c.2085A>C (p.Thr695=) c.1860A>C (p.Thr620=) c.2955A>C (p.Thr985=) n.370A>C c.1022-1648A>C c.*251A>C (n.*251A>C) n.3894A>C n.2495A>C c.3006A>C (p.Thr1002=) n.496A>C c.3054A>C (p.Thr1018=) c.3114A>C (p.Thr1038=) c.2664A>C (p.Thr888=) c.966A>C (p.Thr322=) c.877-1648A>C (n.877-1648A>C) c.3015A>C (p.Thr1005=) c.3061-1648A>C (n.3061-1648A>C) c.2736A>C (p.Thr912=) c.2731-1648A>C (n.2731-1648A>C) c.1818A>C (p.Thr606=) n.3369A>C | |
13 | g.51944202T= | CA2091563963 | ATP7B | c.*894-1648A= (n.*894-1648A=) c.*1894A= (n.*1894A=) c.2529A= (p.Thr843=) c.3150A= (p.Thr1050=) c.2817A= (p.Thr939=) c.2898A= (p.Thr966=) c.2916A= (p.Thr972=) n.3289A= n.3513A= c.2085A= (p.Thr695=) c.1860A= (p.Thr620=) c.2955A= (p.Thr985=) n.370A= c.1022-1648A= c.*251A= (n.*251A=) n.3894A= n.2495A= c.3006A= (p.Thr1002=) n.496A= c.3054A= (p.Thr1018=) c.3114A= (p.Thr1038=) c.2664A= (p.Thr888=) c.966A= (p.Thr322=) c.877-1648A= (n.877-1648A=) c.3015A= (p.Thr1005=) c.3061-1648A= (n.3061-1648A=) c.2736A= (p.Thr912=) c.2731-1648A= (n.2731-1648A=) c.1818A= (p.Thr606=) n.3369A= | |
13 | g.51944202dup | CA2842235516 | ATP7B | c.*894-1648dup (n.*894-1648dup) c.*1894dup (n.*1894dup) c.2529dup (p.Leu844ThrfsTer18) c.3150dup (p.Leu1051ThrfsTer18) c.2817dup (p.Leu940ThrfsTer18) c.2898dup (p.Leu967ThrfsTer18) c.2916dup (p.Leu973ThrfsTer18) n.3289dup n.3513dup c.2085dup (p.Leu696ThrfsTer18) c.1860dup (p.Leu621ThrfsTer18) c.2955dup (p.Leu986ThrfsTer18) n.370dup c.1022-1648dup c.*251dup (n.*251dup) n.3894dup n.2495dup c.3006dup (p.Leu1003ThrfsTer18) n.496dup c.3054dup (p.Leu1019ThrfsTer18) c.3114dup (p.Leu1039ThrfsTer18) c.2664dup (p.Leu889ThrfsTer18) c.966dup (p.Leu323ThrfsTer18) c.877-1648dup (n.877-1648dup) c.3015dup (p.Leu1006ThrfsTer18) c.3061-1648dup (n.3061-1648dup) c.2736dup (p.Leu913ThrfsTer18) c.2731-1648dup (n.2731-1648dup) c.1818dup (p.Leu607ThrfsTer18) n.3369dup | |
13 | g.51944203G>A | CA388030144 | ATP7B | c.*894-1649C>T (n.*894-1649C>T) c.*1893C>T (n.*1893C>T) c.2528C>T (p.Thr843Ile) c.3149C>T (p.Thr1050Ile) c.2816C>T (p.Thr939Ile) c.2897C>T (p.Thr966Ile) c.2915C>T (p.Thr972Ile) n.3288C>T n.3512C>T c.2084C>T (p.Thr695Ile) c.1859C>T (p.Thr620Ile) c.2954C>T (p.Thr985Ile) n.369C>T c.1022-1649C>T c.*250C>T (n.*250C>T) n.3893C>T n.2494C>T c.3005C>T (p.Thr1002Ile) n.495C>T c.3053C>T (p.Thr1018Ile) c.3113C>T (p.Thr1038Ile) c.2663C>T (p.Thr888Ile) c.965C>T (p.Thr322Ile) c.877-1649C>T (n.877-1649C>T) c.3014C>T (p.Thr1005Ile) c.3061-1649C>T (n.3061-1649C>T) c.2735C>T (p.Thr912Ile) c.2731-1649C>T (n.2731-1649C>T) c.1817C>T (p.Thr606Ile) n.3368C>T | |
13 | g.51944203G>C | CA388030142 | ATP7B | c.*894-1649C>G (n.*894-1649C>G) c.*1893C>G (n.*1893C>G) c.2528C>G (p.Thr843Arg) c.3149C>G (p.Thr1050Arg) c.2816C>G (p.Thr939Arg) c.2897C>G (p.Thr966Arg) c.2915C>G (p.Thr972Arg) n.3288C>G n.3512C>G c.2084C>G (p.Thr695Arg) c.1859C>G (p.Thr620Arg) c.2954C>G (p.Thr985Arg) n.369C>G c.1022-1649C>G c.*250C>G (n.*250C>G) n.3893C>G n.2494C>G c.3005C>G (p.Thr1002Arg) n.495C>G c.3053C>G (p.Thr1018Arg) c.3113C>G (p.Thr1038Arg) c.2663C>G (p.Thr888Arg) c.965C>G (p.Thr322Arg) c.877-1649C>G (n.877-1649C>G) c.3014C>G (p.Thr1005Arg) c.3061-1649C>G (n.3061-1649C>G) c.2735C>G (p.Thr912Arg) c.2731-1649C>G (n.2731-1649C>G) c.1817C>G (p.Thr606Arg) n.3368C>G | |
13 | g.51944203G>T | CA388030139 | ATP7B | c.*894-1649C>A (n.*894-1649C>A) c.*1893C>A (n.*1893C>A) c.2528C>A (p.Thr843Lys) c.3149C>A (p.Thr1050Lys) c.2816C>A (p.Thr939Lys) c.2897C>A (p.Thr966Lys) c.2915C>A (p.Thr972Lys) n.3288C>A n.3512C>A c.2084C>A (p.Thr695Lys) c.1859C>A (p.Thr620Lys) c.2954C>A (p.Thr985Lys) n.369C>A c.1022-1649C>A c.*250C>A (n.*250C>A) n.3893C>A n.2494C>A c.3005C>A (p.Thr1002Lys) n.495C>A c.3053C>A (p.Thr1018Lys) c.3113C>A (p.Thr1038Lys) c.2663C>A (p.Thr888Lys) c.965C>A (p.Thr322Lys) c.877-1649C>A (n.877-1649C>A) c.3014C>A (p.Thr1005Lys) c.3061-1649C>A (n.3061-1649C>A) c.2735C>A (p.Thr912Lys) c.2731-1649C>A (n.2731-1649C>A) c.1817C>A (p.Thr606Lys) n.3368C>A | |
13 | g.51944204T>A | CA388030146 | ATP7B | c.*894-1650A>T (n.*894-1650A>T) c.*1892A>T (n.*1892A>T) c.2527A>T (p.Thr843Ser) c.3148A>T (p.Thr1050Ser) c.2815A>T (p.Thr939Ser) c.2896A>T (p.Thr966Ser) c.2914A>T (p.Thr972Ser) n.3287A>T n.3511A>T c.2083A>T (p.Thr695Ser) c.1858A>T (p.Thr620Ser) c.2953A>T (p.Thr985Ser) n.368A>T c.1022-1650A>T c.*249A>T (n.*249A>T) n.3892A>T n.2493A>T c.3004A>T (p.Thr1002Ser) n.494A>T c.3052A>T (p.Thr1018Ser) c.3112A>T (p.Thr1038Ser) c.2662A>T (p.Thr888Ser) c.964A>T (p.Thr322Ser) c.877-1650A>T (n.877-1650A>T) c.3013A>T (p.Thr1005Ser) c.3061-1650A>T (n.3061-1650A>T) c.2734A>T (p.Thr912Ser) c.2731-1650A>T (n.2731-1650A>T) c.1816A>T (p.Thr606Ser) n.3367A>T | |
13 | g.51944204T>C | CA388030149 | ATP7B | c.*894-1650A>G (n.*894-1650A>G) c.*1892A>G (n.*1892A>G) c.2527A>G (p.Thr843Ala) c.3148A>G (p.Thr1050Ala) c.2815A>G (p.Thr939Ala) c.2896A>G (p.Thr966Ala) c.2914A>G (p.Thr972Ala) n.3287A>G n.3511A>G c.2083A>G (p.Thr695Ala) c.1858A>G (p.Thr620Ala) c.2953A>G (p.Thr985Ala) n.368A>G c.1022-1650A>G c.*249A>G (n.*249A>G) n.3892A>G n.2493A>G c.3004A>G (p.Thr1002Ala) n.494A>G c.3052A>G (p.Thr1018Ala) c.3112A>G (p.Thr1038Ala) c.2662A>G (p.Thr888Ala) c.964A>G (p.Thr322Ala) c.877-1650A>G (n.877-1650A>G) c.3013A>G (p.Thr1005Ala) c.3061-1650A>G (n.3061-1650A>G) c.2734A>G (p.Thr912Ala) c.2731-1650A>G (n.2731-1650A>G) c.1816A>G (p.Thr606Ala) n.3367A>G | gnomAD v4 |
13 | g.51944204T>G | CA388030147 | ATP7B | c.*894-1650A>C (n.*894-1650A>C) c.*1892A>C (n.*1892A>C) c.2527A>C (p.Thr843Pro) c.3148A>C (p.Thr1050Pro) c.2815A>C (p.Thr939Pro) c.2896A>C (p.Thr966Pro) c.2914A>C (p.Thr972Pro) n.3287A>C n.3511A>C c.2083A>C (p.Thr695Pro) c.1858A>C (p.Thr620Pro) c.2953A>C (p.Thr985Pro) n.368A>C c.1022-1650A>C c.*249A>C (n.*249A>C) n.3892A>C n.2493A>C c.3004A>C (p.Thr1002Pro) n.494A>C c.3052A>C (p.Thr1018Pro) c.3112A>C (p.Thr1038Pro) c.2662A>C (p.Thr888Pro) c.964A>C (p.Thr322Pro) c.877-1650A>C (n.877-1650A>C) c.3013A>C (p.Thr1005Pro) c.3061-1650A>C (n.3061-1650A>C) c.2734A>C (p.Thr912Pro) c.2731-1650A>C (n.2731-1650A>C) c.1816A>C (p.Thr606Pro) n.3367A>C | |
13 | g.51944204_51944205delinsTG | CA2091563969 | ATP7B | c.*894-1651_*894-1650delinsCA (n.*894-1651_*894-1650delinsCA) c.*1891_*1892delinsCA (n.*1891_*1892delinsCA) c.2526_2527delinsCA (p.Ala842=) c.3147_3148delinsCA (p.Ala1049=) c.2814_2815delinsCA (p.Ala938=) c.2895_2896delinsCA (p.Ala965=) c.2913_2914delinsCA (p.Ala971=) n.3286_3287delinsCA n.3510_3511delinsCA c.2082_2083delinsCA (p.Ala694=) c.1857_1858delinsCA (p.Ala619=) c.2952_2953delinsCA (p.Ala984=) n.367_368delinsCA c.1022-1651_1022-1650delinsCA c.*248_*249delinsCA (n.*248_*249delinsCA) n.3891_3892delinsCA n.2492_2493delinsCA c.3003_3004delinsCA (p.Ala1001=) n.493_494delinsCA c.3051_3052delinsCA (p.Ala1017=) c.3111_3112delinsCA (p.Ala1037=) c.2661_2662delinsCA (p.Ala887=) c.963_964delinsCA (p.Ala321=) c.877-1651_877-1650delinsCA (n.877-1651_877-1650delinsCA) c.3012_3013delinsCA (p.Ala1004=) c.3061-1651_3061-1650delinsCA (n.3061-1651_3061-1650delinsCA) c.2733_2734delinsCA (p.Ala911=) c.2731-1651_2731-1650delinsCA (n.2731-1651_2731-1650delinsCA) c.1815_1816delinsCA (p.Ala605=) n.3366_3367delinsCA | |
13 | g.51944205G>A | CA483894711 | ATP7B | c.*894-1651C>T (n.*894-1651C>T) c.*1891C>T (n.*1891C>T) c.2526C>T (p.Ala842=) c.3147C>T (p.Ala1049=) c.2814C>T (p.Ala938=) c.2895C>T (p.Ala965=) c.2913C>T (p.Ala971=) n.3286C>T n.3510C>T c.2082C>T (p.Ala694=) c.1857C>T (p.Ala619=) c.2952C>T (p.Ala984=) n.367C>T c.1022-1651C>T c.*248C>T (n.*248C>T) n.3891C>T n.2492C>T c.3003C>T (p.Ala1001=) n.493C>T c.3051C>T (p.Ala1017=) c.3111C>T (p.Ala1037=) c.2661C>T (p.Ala887=) c.963C>T (p.Ala321=) c.877-1651C>T (n.877-1651C>T) c.3012C>T (p.Ala1004=) c.3061-1651C>T (n.3061-1651C>T) c.2733C>T (p.Ala911=) c.2731-1651C>T (n.2731-1651C>T) c.1815C>T (p.Ala605=) n.3366C>T | |
13 | g.51944205G>C | CA483894712 | ATP7B | c.*894-1651C>G (n.*894-1651C>G) c.*1891C>G (n.*1891C>G) c.2526C>G (p.Ala842=) c.3147C>G (p.Ala1049=) c.2814C>G (p.Ala938=) c.2895C>G (p.Ala965=) c.2913C>G (p.Ala971=) n.3286C>G n.3510C>G c.2082C>G (p.Ala694=) c.1857C>G (p.Ala619=) c.2952C>G (p.Ala984=) n.367C>G c.1022-1651C>G c.*248C>G (n.*248C>G) n.3891C>G n.2492C>G c.3003C>G (p.Ala1001=) n.493C>G c.3051C>G (p.Ala1017=) c.3111C>G (p.Ala1037=) c.2661C>G (p.Ala887=) c.963C>G (p.Ala321=) c.877-1651C>G (n.877-1651C>G) c.3012C>G (p.Ala1004=) c.3061-1651C>G (n.3061-1651C>G) c.2733C>G (p.Ala911=) c.2731-1651C>G (n.2731-1651C>G) c.1815C>G (p.Ala605=) n.3366C>G | |
13 | g.51944205G>T | CA483894713 | ATP7B | c.*894-1651C>A (n.*894-1651C>A) c.*1891C>A (n.*1891C>A) c.2526C>A (p.Ala842=) c.3147C>A (p.Ala1049=) c.2814C>A (p.Ala938=) c.2895C>A (p.Ala965=) c.2913C>A (p.Ala971=) n.3286C>A n.3510C>A c.2082C>A (p.Ala694=) c.1857C>A (p.Ala619=) c.2952C>A (p.Ala984=) n.367C>A c.1022-1651C>A c.*248C>A (n.*248C>A) n.3891C>A n.2492C>A c.3003C>A (p.Ala1001=) n.493C>A c.3051C>A (p.Ala1017=) c.3111C>A (p.Ala1037=) c.2661C>A (p.Ala887=) c.963C>A (p.Ala321=) c.877-1651C>A (n.877-1651C>A) c.3012C>A (p.Ala1004=) c.3061-1651C>A (n.3061-1651C>A) c.2733C>A (p.Ala911=) c.2731-1651C>A (n.2731-1651C>A) c.1815C>A (p.Ala605=) n.3366C>A | |
13 | g.51944206del | CA6988796 | ATP7B | c.*894-1651del (n.*894-1651del) c.*1891del (n.*1891del) c.2526del (p.Thr843HisfsTer?) c.3147del (p.Thr1050HisfsTer?) c.2814del (p.Thr939HisfsTer?) c.2895del (p.Thr966HisfsTer?) c.2913del (p.Thr972HisfsTer?) n.3286del n.3510del c.2082del (p.Thr695HisfsTer?) c.1857del (p.Thr620HisfsTer?) c.2952del (p.Thr985HisfsTer?) n.367del c.1022-1651del c.*248del (n.*248del) n.3891del n.2492del c.3003del (p.Thr1002HisfsTer?) n.493del c.3051del (p.Thr1018HisfsTer?) c.3111del (p.Thr1038HisfsTer?) c.2661del (p.Thr888HisfsTer?) c.963del (p.Thr322HisfsTer?) c.877-1651del (n.877-1651del) c.3012del (p.Thr1005HisfsTer?) c.3061-1651del (n.3061-1651del) c.2733del (p.Thr912HisfsTer?) c.2731-1651del (n.2731-1651del) c.1815del (p.Thr606HisfsTer?) n.3366del | ClinVar dbSNP ExAC gnomAD v4 |
13 | g.51944206G>A | CA6988797 | ATP7B | c.*894-1652C>T (n.*894-1652C>T) c.*1890C>T (n.*1890C>T) c.2525C>T (p.Ala842Val) c.3146C>T (p.Ala1049Val) c.2813C>T (p.Ala938Val) c.2894C>T (p.Ala965Val) c.2912C>T (p.Ala971Val) n.3285C>T n.3509C>T c.2081C>T (p.Ala694Val) c.1856C>T (p.Ala619Val) c.2951C>T (p.Ala984Val) n.366C>T c.1022-1652C>T c.*247C>T (n.*247C>T) n.3890C>T n.2491C>T c.3002C>T (p.Ala1001Val) n.492C>T c.3050C>T (p.Ala1017Val) c.3110C>T (p.Ala1037Val) c.2660C>T (p.Ala887Val) c.962C>T (p.Ala321Val) c.877-1652C>T (n.877-1652C>T) c.3011C>T (p.Ala1004Val) c.3061-1652C>T (n.3061-1652C>T) c.2732C>T (p.Ala911Val) c.2731-1652C>T (n.2731-1652C>T) c.1814C>T (p.Ala605Val) n.3365C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944206G>C | CA388030157 | ATP7B | c.*894-1652C>G (n.*894-1652C>G) c.*1890C>G (n.*1890C>G) c.2525C>G (p.Ala842Gly) c.3146C>G (p.Ala1049Gly) c.2813C>G (p.Ala938Gly) c.2894C>G (p.Ala965Gly) c.2912C>G (p.Ala971Gly) n.3285C>G n.3509C>G c.2081C>G (p.Ala694Gly) c.1856C>G (p.Ala619Gly) c.2951C>G (p.Ala984Gly) n.366C>G c.1022-1652C>G c.*247C>G (n.*247C>G) n.3890C>G n.2491C>G c.3002C>G (p.Ala1001Gly) n.492C>G c.3050C>G (p.Ala1017Gly) c.3110C>G (p.Ala1037Gly) c.2660C>G (p.Ala887Gly) c.962C>G (p.Ala321Gly) c.877-1652C>G (n.877-1652C>G) c.3011C>G (p.Ala1004Gly) c.3061-1652C>G (n.3061-1652C>G) c.2732C>G (p.Ala911Gly) c.2731-1652C>G (n.2731-1652C>G) c.1814C>G (p.Ala605Gly) n.3365C>G | |
13 | g.51944206G= | CA2091563980 | ATP7B | c.*894-1652C= (n.*894-1652C=) c.*1890C= (n.*1890C=) c.2525C= (p.Ala842=) c.3146C= (p.Ala1049=) c.2813C= (p.Ala938=) c.2894C= (p.Ala965=) c.2912C= (p.Ala971=) n.3285C= n.3509C= c.2081C= (p.Ala694=) c.1856C= (p.Ala619=) c.2951C= (p.Ala984=) n.366C= c.1022-1652C= c.*247C= (n.*247C=) n.3890C= n.2491C= c.3002C= (p.Ala1001=) n.492C= c.3050C= (p.Ala1017=) c.3110C= (p.Ala1037=) c.2660C= (p.Ala887=) c.962C= (p.Ala321=) c.877-1652C= (n.877-1652C=) c.3011C= (p.Ala1004=) c.3061-1652C= (n.3061-1652C=) c.2732C= (p.Ala911=) c.2731-1652C= (n.2731-1652C=) c.1814C= (p.Ala605=) n.3365C= | |
13 | g.51944206G>T | CA388030159 | ATP7B | c.*894-1652C>A (n.*894-1652C>A) c.*1890C>A (n.*1890C>A) c.2525C>A (p.Ala842Asp) c.3146C>A (p.Ala1049Asp) c.2813C>A (p.Ala938Asp) c.2894C>A (p.Ala965Asp) c.2912C>A (p.Ala971Asp) n.3285C>A n.3509C>A c.2081C>A (p.Ala694Asp) c.1856C>A (p.Ala619Asp) c.2951C>A (p.Ala984Asp) n.366C>A c.1022-1652C>A c.*247C>A (n.*247C>A) n.3890C>A n.2491C>A c.3002C>A (p.Ala1001Asp) n.492C>A c.3050C>A (p.Ala1017Asp) c.3110C>A (p.Ala1037Asp) c.2660C>A (p.Ala887Asp) c.962C>A (p.Ala321Asp) c.877-1652C>A (n.877-1652C>A) c.3011C>A (p.Ala1004Asp) c.3061-1652C>A (n.3061-1652C>A) c.2732C>A (p.Ala911Asp) c.2731-1652C>A (n.2731-1652C>A) c.1814C>A (p.Ala605Asp) n.3365C>A | |
13 | g.51944207C>A | CA388030162 | ATP7B | c.*894-1653G>T (n.*894-1653G>T) c.*1889G>T (n.*1889G>T) c.2524G>T (p.Ala842Ser) c.3145G>T (p.Ala1049Ser) c.2812G>T (p.Ala938Ser) c.2893G>T (p.Ala965Ser) c.2911G>T (p.Ala971Ser) n.3284G>T n.3508G>T c.2080G>T (p.Ala694Ser) c.1855G>T (p.Ala619Ser) c.2950G>T (p.Ala984Ser) n.365G>T c.1022-1653G>T c.*246G>T (n.*246G>T) n.3889G>T n.2490G>T c.3001G>T (p.Ala1001Ser) n.491G>T c.3049G>T (p.Ala1017Ser) c.3109G>T (p.Ala1037Ser) c.2659G>T (p.Ala887Ser) c.961G>T (p.Ala321Ser) c.877-1653G>T (n.877-1653G>T) c.3010G>T (p.Ala1004Ser) c.3061-1653G>T (n.3061-1653G>T) c.2731G>T (p.Ala911Ser) c.2731-1653G>T (n.2731-1653G>T) c.1813G>T (p.Ala605Ser) n.3364G>T | |
13 | g.51944207C>G | CA388030166 | ATP7B | c.*894-1653G>C (n.*894-1653G>C) c.*1889G>C (n.*1889G>C) c.2524G>C (p.Ala842Pro) c.3145G>C (p.Ala1049Pro) c.2812G>C (p.Ala938Pro) c.2893G>C (p.Ala965Pro) c.2911G>C (p.Ala971Pro) n.3284G>C n.3508G>C c.2080G>C (p.Ala694Pro) c.1855G>C (p.Ala619Pro) c.2950G>C (p.Ala984Pro) n.365G>C c.1022-1653G>C c.*246G>C (n.*246G>C) n.3889G>C n.2490G>C c.3001G>C (p.Ala1001Pro) n.491G>C c.3049G>C (p.Ala1017Pro) c.3109G>C (p.Ala1037Pro) c.2659G>C (p.Ala887Pro) c.961G>C (p.Ala321Pro) c.877-1653G>C (n.877-1653G>C) c.3010G>C (p.Ala1004Pro) c.3061-1653G>C (n.3061-1653G>C) c.2731G>C (p.Ala911Pro) c.2731-1653G>C (n.2731-1653G>C) c.1813G>C (p.Ala605Pro) n.3364G>C | gnomAD v4 |
13 | g.51944207C>T | CA388030172 | ATP7B | c.*894-1653G>A (n.*894-1653G>A) c.*1889G>A (n.*1889G>A) c.2524G>A (p.Ala842Thr) c.3145G>A (p.Ala1049Thr) c.2812G>A (p.Ala938Thr) c.2893G>A (p.Ala965Thr) c.2911G>A (p.Ala971Thr) n.3284G>A n.3508G>A c.2080G>A (p.Ala694Thr) c.1855G>A (p.Ala619Thr) c.2950G>A (p.Ala984Thr) n.365G>A c.1022-1653G>A c.*246G>A (n.*246G>A) n.3889G>A n.2490G>A c.3001G>A (p.Ala1001Thr) n.491G>A c.3049G>A (p.Ala1017Thr) c.3109G>A (p.Ala1037Thr) c.2659G>A (p.Ala887Thr) c.961G>A (p.Ala321Thr) c.877-1653G>A (n.877-1653G>A) c.3010G>A (p.Ala1004Thr) c.3061-1653G>A (n.3061-1653G>A) c.2731G>A (p.Ala911Thr) c.2731-1653G>A (n.2731-1653G>A) c.1813G>A (p.Ala605Thr) n.3364G>A | gnomAD v4 |
13 | g.51944208C>A | CA483894714 | ATP7B | c.*894-1654G>T (n.*894-1654G>T) c.*1888G>T (n.*1888G>T) c.2523G>T (p.Val841=) c.3144G>T (p.Val1048=) c.2811G>T (p.Val937=) c.2892G>T (p.Val964=) c.2910G>T (p.Val970=) n.3283G>T n.3507G>T c.2079G>T (p.Val693=) c.1854G>T (p.Val618=) c.2949G>T (p.Val983=) n.364G>T c.1022-1654G>T c.*245G>T (n.*245G>T) n.3888G>T n.2489G>T c.3000G>T (p.Val1000=) n.490G>T c.3048G>T (p.Val1016=) c.3108G>T (p.Val1036=) c.2658G>T (p.Val886=) c.960G>T (p.Val320=) c.877-1654G>T (n.877-1654G>T) c.3009G>T (p.Val1003=) c.3061-1654G>T (n.3061-1654G>T) c.2730G>T (p.Val910=) c.2731-1654G>T (n.2731-1654G>T) c.1812G>T (p.Val604=) n.3363G>T | |
13 | g.51944208C>G | CA483894716 | ATP7B | c.*894-1654G>C (n.*894-1654G>C) c.*1888G>C (n.*1888G>C) c.2523G>C (p.Val841=) c.3144G>C (p.Val1048=) c.2811G>C (p.Val937=) c.2892G>C (p.Val964=) c.2910G>C (p.Val970=) n.3283G>C n.3507G>C c.2079G>C (p.Val693=) c.1854G>C (p.Val618=) c.2949G>C (p.Val983=) n.364G>C c.1022-1654G>C c.*245G>C (n.*245G>C) n.3888G>C n.2489G>C c.3000G>C (p.Val1000=) n.490G>C c.3048G>C (p.Val1016=) c.3108G>C (p.Val1036=) c.2658G>C (p.Val886=) c.960G>C (p.Val320=) c.877-1654G>C (n.877-1654G>C) c.3009G>C (p.Val1003=) c.3061-1654G>C (n.3061-1654G>C) c.2730G>C (p.Val910=) c.2731-1654G>C (n.2731-1654G>C) c.1812G>C (p.Val604=) n.3363G>C | |
13 | g.51944208C>T | CA483894715 | ATP7B | c.*894-1654G>A (n.*894-1654G>A) c.*1888G>A (n.*1888G>A) c.2523G>A (p.Val841=) c.3144G>A (p.Val1048=) c.2811G>A (p.Val937=) c.2892G>A (p.Val964=) c.2910G>A (p.Val970=) n.3283G>A n.3507G>A c.2079G>A (p.Val693=) c.1854G>A (p.Val618=) c.2949G>A (p.Val983=) n.364G>A c.1022-1654G>A c.*245G>A (n.*245G>A) n.3888G>A n.2489G>A c.3000G>A (p.Val1000=) n.490G>A c.3048G>A (p.Val1016=) c.3108G>A (p.Val1036=) c.2658G>A (p.Val886=) c.960G>A (p.Val320=) c.877-1654G>A (n.877-1654G>A) c.3009G>A (p.Val1003=) c.3061-1654G>A (n.3061-1654G>A) c.2730G>A (p.Val910=) c.2731-1654G>A (n.2731-1654G>A) c.1812G>A (p.Val604=) n.3363G>A | |
13 | g.51944209A= | CA2091563989 | ATP7B | c.*894-1655T= (n.*894-1655T=) c.*1887T= (n.*1887T=) c.2522T= (p.Val841=) c.3143T= (p.Val1048=) c.2810T= (p.Val937=) c.2891T= (p.Val964=) c.2909T= (p.Val970=) n.3282T= n.3506T= c.2078T= (p.Val693=) c.1853T= (p.Val618=) c.2948T= (p.Val983=) n.363T= c.1022-1655T= c.*244T= (n.*244T=) n.3887T= n.2488T= c.2999T= (p.Val1000=) n.489T= c.3047T= (p.Val1016=) c.3107T= (p.Val1036=) c.2657T= (p.Val886=) c.959T= (p.Val320=) c.877-1655T= (n.877-1655T=) c.3008T= (p.Val1003=) c.3061-1655T= (n.3061-1655T=) c.2729T= (p.Val910=) c.2731-1655T= (n.2731-1655T=) c.1811T= (p.Val604=) n.3362T= | |
13 | g.51944209A>C | CA388030174 | ATP7B | c.*894-1655T>G (n.*894-1655T>G) c.*1887T>G (n.*1887T>G) c.2522T>G (p.Val841Gly) c.3143T>G (p.Val1048Gly) c.2810T>G (p.Val937Gly) c.2891T>G (p.Val964Gly) c.2909T>G (p.Val970Gly) n.3282T>G n.3506T>G c.2078T>G (p.Val693Gly) c.1853T>G (p.Val618Gly) c.2948T>G (p.Val983Gly) n.363T>G c.1022-1655T>G c.*244T>G (n.*244T>G) n.3887T>G n.2488T>G c.2999T>G (p.Val1000Gly) n.489T>G c.3047T>G (p.Val1016Gly) c.3107T>G (p.Val1036Gly) c.2657T>G (p.Val886Gly) c.959T>G (p.Val320Gly) c.877-1655T>G (n.877-1655T>G) c.3008T>G (p.Val1003Gly) c.3061-1655T>G (n.3061-1655T>G) c.2729T>G (p.Val910Gly) c.2731-1655T>G (n.2731-1655T>G) c.1811T>G (p.Val604Gly) n.3362T>G | |
13 | g.51944209A>G | CA388030176 | ATP7B | c.*894-1655T>C (n.*894-1655T>C) c.*1887T>C (n.*1887T>C) c.2522T>C (p.Val841Ala) c.3143T>C (p.Val1048Ala) c.2810T>C (p.Val937Ala) c.2891T>C (p.Val964Ala) c.2909T>C (p.Val970Ala) n.3282T>C n.3506T>C c.2078T>C (p.Val693Ala) c.1853T>C (p.Val618Ala) c.2948T>C (p.Val983Ala) n.363T>C c.1022-1655T>C c.*244T>C (n.*244T>C) n.3887T>C n.2488T>C c.2999T>C (p.Val1000Ala) n.489T>C c.3047T>C (p.Val1016Ala) c.3107T>C (p.Val1036Ala) c.2657T>C (p.Val886Ala) c.959T>C (p.Val320Ala) c.877-1655T>C (n.877-1655T>C) c.3008T>C (p.Val1003Ala) c.3061-1655T>C (n.3061-1655T>C) c.2729T>C (p.Val910Ala) c.2731-1655T>C (n.2731-1655T>C) c.1811T>C (p.Val604Ala) n.3362T>C | |
13 | g.51944209A>T | CA388030178 | ATP7B | c.*894-1655T>A (n.*894-1655T>A) c.*1887T>A (n.*1887T>A) c.2522T>A (p.Val841Glu) c.3143T>A (p.Val1048Glu) c.2810T>A (p.Val937Glu) c.2891T>A (p.Val964Glu) c.2909T>A (p.Val970Glu) n.3282T>A n.3506T>A c.2078T>A (p.Val693Glu) c.1853T>A (p.Val618Glu) c.2948T>A (p.Val983Glu) n.363T>A c.1022-1655T>A c.*244T>A (n.*244T>A) n.3887T>A n.2488T>A c.2999T>A (p.Val1000Glu) n.489T>A c.3047T>A (p.Val1016Glu) c.3107T>A (p.Val1036Glu) c.2657T>A (p.Val886Glu) c.959T>A (p.Val320Glu) c.877-1655T>A (n.877-1655T>A) c.3008T>A (p.Val1003Glu) c.3061-1655T>A (n.3061-1655T>A) c.2729T>A (p.Val910Glu) c.2731-1655T>A (n.2731-1655T>A) c.1811T>A (p.Val604Glu) n.3362T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944210C>A | CA388030185 | ATP7B | c.*894-1656G>T (n.*894-1656G>T) c.*1886G>T (n.*1886G>T) c.2521G>T (p.Val841Leu) c.3142G>T (p.Val1048Leu) c.2809G>T (p.Val937Leu) c.2890G>T (p.Val964Leu) c.2908G>T (p.Val970Leu) n.3281G>T n.3505G>T c.2077G>T (p.Val693Leu) c.1852G>T (p.Val618Leu) c.2947G>T (p.Val983Leu) n.362G>T c.1022-1656G>T c.*243G>T (n.*243G>T) n.3886G>T n.2487G>T c.2998G>T (p.Val1000Leu) n.488G>T c.3046G>T (p.Val1016Leu) c.3106G>T (p.Val1036Leu) c.2656G>T (p.Val886Leu) c.958G>T (p.Val320Leu) c.877-1656G>T (n.877-1656G>T) c.3007G>T (p.Val1003Leu) c.3061-1656G>T (n.3061-1656G>T) c.2728G>T (p.Val910Leu) c.2731-1656G>T (n.2731-1656G>T) c.1810G>T (p.Val604Leu) n.3361G>T | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944210C= | CA2091563995 | ATP7B | c.*894-1656G= (n.*894-1656G=) c.*1886G= (n.*1886G=) c.2521G= (p.Val841=) c.3142G= (p.Val1048=) c.2809G= (p.Val937=) c.2890G= (p.Val964=) c.2908G= (p.Val970=) n.3281G= n.3505G= c.2077G= (p.Val693=) c.1852G= (p.Val618=) c.2947G= (p.Val983=) n.362G= c.1022-1656G= c.*243G= (n.*243G=) n.3886G= n.2487G= c.2998G= (p.Val1000=) n.488G= c.3046G= (p.Val1016=) c.3106G= (p.Val1036=) c.2656G= (p.Val886=) c.958G= (p.Val320=) c.877-1656G= (n.877-1656G=) c.3007G= (p.Val1003=) c.3061-1656G= (n.3061-1656G=) c.2728G= (p.Val910=) c.2731-1656G= (n.2731-1656G=) c.1810G= (p.Val604=) n.3361G= | |
13 | g.51944210C>G | CA388030182 | ATP7B | c.*894-1656G>C (n.*894-1656G>C) c.*1886G>C (n.*1886G>C) c.2521G>C (p.Val841Leu) c.3142G>C (p.Val1048Leu) c.2809G>C (p.Val937Leu) c.2890G>C (p.Val964Leu) c.2908G>C (p.Val970Leu) n.3281G>C n.3505G>C c.2077G>C (p.Val693Leu) c.1852G>C (p.Val618Leu) c.2947G>C (p.Val983Leu) n.362G>C c.1022-1656G>C c.*243G>C (n.*243G>C) n.3886G>C n.2487G>C c.2998G>C (p.Val1000Leu) n.488G>C c.3046G>C (p.Val1016Leu) c.3106G>C (p.Val1036Leu) c.2656G>C (p.Val886Leu) c.958G>C (p.Val320Leu) c.877-1656G>C (n.877-1656G>C) c.3007G>C (p.Val1003Leu) c.3061-1656G>C (n.3061-1656G>C) c.2728G>C (p.Val910Leu) c.2731-1656G>C (n.2731-1656G>C) c.1810G>C (p.Val604Leu) n.3361G>C | |
13 | g.51944210C>T | CA388030181 | ATP7B | c.*894-1656G>A (n.*894-1656G>A) c.*1886G>A (n.*1886G>A) c.2521G>A (p.Val841Met) c.3142G>A (p.Val1048Met) c.2809G>A (p.Val937Met) c.2890G>A (p.Val964Met) c.2908G>A (p.Val970Met) n.3281G>A n.3505G>A c.2077G>A (p.Val693Met) c.1852G>A (p.Val618Met) c.2947G>A (p.Val983Met) n.362G>A c.1022-1656G>A c.*243G>A (n.*243G>A) n.3886G>A n.2487G>A c.2998G>A (p.Val1000Met) n.488G>A c.3046G>A (p.Val1016Met) c.3106G>A (p.Val1036Met) c.2656G>A (p.Val886Met) c.958G>A (p.Val320Met) c.877-1656G>A (n.877-1656G>A) c.3007G>A (p.Val1003Met) c.3061-1656G>A (n.3061-1656G>A) c.2728G>A (p.Val910Met) c.2731-1656G>A (n.2731-1656G>A) c.1810G>A (p.Val604Met) n.3361G>A | gnomAD v4 |
13 | g.51944211A= | CA2091564000 | ATP7B | c.*894-1657T= (n.*894-1657T=) c.*1885T= (n.*1885T=) c.2520T= (p.Asp840=) c.3141T= (p.Asp1047=) c.2808T= (p.Asp936=) c.2889T= (p.Asp963=) c.2907T= (p.Asp969=) n.3280T= n.3504T= c.2076T= (p.Asp692=) c.1851T= (p.Asp617=) c.2946T= (p.Asp982=) n.361T= c.1022-1657T= c.*242T= (n.*242T=) n.3885T= n.2486T= c.2997T= (p.Asp999=) n.487T= c.3045T= (p.Asp1015=) c.3105T= (p.Asp1035=) c.2655T= (p.Asp885=) c.957T= (p.Asp319=) c.877-1657T= (n.877-1657T=) c.3006T= (p.Asp1002=) c.3061-1657T= (n.3061-1657T=) c.2727T= (p.Asp909=) c.2731-1657T= (n.2731-1657T=) c.1809T= (p.Asp603=) n.3360T= | |
13 | g.51944211A>C | CA388030191 | ATP7B | c.*894-1657T>G (n.*894-1657T>G) c.*1885T>G (n.*1885T>G) c.2520T>G (p.Asp840Glu) c.3141T>G (p.Asp1047Glu) c.2808T>G (p.Asp936Glu) c.2889T>G (p.Asp963Glu) c.2907T>G (p.Asp969Glu) n.3280T>G n.3504T>G c.2076T>G (p.Asp692Glu) c.1851T>G (p.Asp617Glu) c.2946T>G (p.Asp982Glu) n.361T>G c.1022-1657T>G c.*242T>G (n.*242T>G) n.3885T>G n.2486T>G c.2997T>G (p.Asp999Glu) n.487T>G c.3045T>G (p.Asp1015Glu) c.3105T>G (p.Asp1035Glu) c.2655T>G (p.Asp885Glu) c.957T>G (p.Asp319Glu) c.877-1657T>G (n.877-1657T>G) c.3006T>G (p.Asp1002Glu) c.3061-1657T>G (n.3061-1657T>G) c.2727T>G (p.Asp909Glu) c.2731-1657T>G (n.2731-1657T>G) c.1809T>G (p.Asp603Glu) n.3360T>G | |
13 | g.51944211A>G | CA483894717 | ATP7B | c.*894-1657T>C (n.*894-1657T>C) c.*1885T>C (n.*1885T>C) c.2520T>C (p.Asp840=) c.3141T>C (p.Asp1047=) c.2808T>C (p.Asp936=) c.2889T>C (p.Asp963=) c.2907T>C (p.Asp969=) n.3280T>C n.3504T>C c.2076T>C (p.Asp692=) c.1851T>C (p.Asp617=) c.2946T>C (p.Asp982=) n.361T>C c.1022-1657T>C c.*242T>C (n.*242T>C) n.3885T>C n.2486T>C c.2997T>C (p.Asp999=) n.487T>C c.3045T>C (p.Asp1015=) c.3105T>C (p.Asp1035=) c.2655T>C (p.Asp885=) c.957T>C (p.Asp319=) c.877-1657T>C (n.877-1657T>C) c.3006T>C (p.Asp1002=) c.3061-1657T>C (n.3061-1657T>C) c.2727T>C (p.Asp909=) c.2731-1657T>C (n.2731-1657T>C) c.1809T>C (p.Asp603=) n.3360T>C | |
13 | g.51944211A>T | CA6988798 | ATP7B | c.*894-1657T>A (n.*894-1657T>A) c.*1885T>A (n.*1885T>A) c.2520T>A (p.Asp840Glu) c.3141T>A (p.Asp1047Glu) c.2808T>A (p.Asp936Glu) c.2889T>A (p.Asp963Glu) c.2907T>A (p.Asp969Glu) n.3280T>A n.3504T>A c.2076T>A (p.Asp692Glu) c.1851T>A (p.Asp617Glu) c.2946T>A (p.Asp982Glu) n.361T>A c.1022-1657T>A c.*242T>A (n.*242T>A) n.3885T>A n.2486T>A c.2997T>A (p.Asp999Glu) n.487T>A c.3045T>A (p.Asp1015Glu) c.3105T>A (p.Asp1035Glu) c.2655T>A (p.Asp885Glu) c.957T>A (p.Asp319Glu) c.877-1657T>A (n.877-1657T>A) c.3006T>A (p.Asp1002Glu) c.3061-1657T>A (n.3061-1657T>A) c.2727T>A (p.Asp909Glu) c.2731-1657T>A (n.2731-1657T>A) c.1809T>A (p.Asp603Glu) n.3360T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944212del | CA2499222491 | ATP7B | c.*894-1658del (n.*894-1658del) c.*1884del (n.*1884del) c.2519del (p.Asp840ValfsTer?) c.3140del (p.Asp1047ValfsTer?) c.2807del (p.Asp936ValfsTer?) c.2888del (p.Asp963ValfsTer?) c.2906del (p.Asp969ValfsTer?) n.3279del n.3503del c.2075del (p.Asp692ValfsTer?) c.1850del (p.Asp617ValfsTer?) c.2945del (p.Asp982ValfsTer?) n.360del c.1022-1658del c.*241del (n.*241del) n.3884del n.2485del c.2996del (p.Asp999ValfsTer?) n.486del c.3044del (p.Asp1015ValfsTer?) c.3104del (p.Asp1035ValfsTer?) c.2654del (p.Asp885ValfsTer?) c.956del (p.Asp319ValfsTer?) c.877-1658del (n.877-1658del) c.3005del (p.Asp1002ValfsTer?) c.3061-1658del (n.3061-1658del) c.2726del (p.Asp909ValfsTer?) c.2731-1658del (n.2731-1658del) c.1808del (p.Asp603ValfsTer?) n.3359del | ClinVar dbSNP |
13 | g.51944212T>A | CA388030192 | ATP7B | c.*894-1658A>T (n.*894-1658A>T) c.*1884A>T (n.*1884A>T) c.2519A>T (p.Asp840Val) c.3140A>T (p.Asp1047Val) c.2807A>T (p.Asp936Val) c.2888A>T (p.Asp963Val) c.2906A>T (p.Asp969Val) n.3279A>T n.3503A>T c.2075A>T (p.Asp692Val) c.1850A>T (p.Asp617Val) c.2945A>T (p.Asp982Val) n.360A>T c.1022-1658A>T c.*241A>T (n.*241A>T) n.3884A>T n.2485A>T c.2996A>T (p.Asp999Val) n.486A>T c.3044A>T (p.Asp1015Val) c.3104A>T (p.Asp1035Val) c.2654A>T (p.Asp885Val) c.956A>T (p.Asp319Val) c.877-1658A>T (n.877-1658A>T) c.3005A>T (p.Asp1002Val) c.3061-1658A>T (n.3061-1658A>T) c.2726A>T (p.Asp909Val) c.2731-1658A>T (n.2731-1658A>T) c.1808A>T (p.Asp603Val) n.3359A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51944212T>C | CA388030193 | ATP7B | c.*894-1658A>G (n.*894-1658A>G) c.*1884A>G (n.*1884A>G) c.2519A>G (p.Asp840Gly) c.3140A>G (p.Asp1047Gly) c.2807A>G (p.Asp936Gly) c.2888A>G (p.Asp963Gly) c.2906A>G (p.Asp969Gly) n.3279A>G n.3503A>G c.2075A>G (p.Asp692Gly) c.1850A>G (p.Asp617Gly) c.2945A>G (p.Asp982Gly) n.360A>G c.1022-1658A>G c.*241A>G (n.*241A>G) n.3884A>G n.2485A>G c.2996A>G (p.Asp999Gly) n.486A>G c.3044A>G (p.Asp1015Gly) c.3104A>G (p.Asp1035Gly) c.2654A>G (p.Asp885Gly) c.956A>G (p.Asp319Gly) c.877-1658A>G (n.877-1658A>G) c.3005A>G (p.Asp1002Gly) c.3061-1658A>G (n.3061-1658A>G) c.2726A>G (p.Asp909Gly) c.2731-1658A>G (n.2731-1658A>G) c.1808A>G (p.Asp603Gly) n.3359A>G | |
13 | g.51944212T>G | CA388030194 | ATP7B | c.*894-1658A>C (n.*894-1658A>C) c.*1884A>C (n.*1884A>C) c.2519A>C (p.Asp840Ala) c.3140A>C (p.Asp1047Ala) c.2807A>C (p.Asp936Ala) c.2888A>C (p.Asp963Ala) c.2906A>C (p.Asp969Ala) n.3279A>C n.3503A>C c.2075A>C (p.Asp692Ala) c.1850A>C (p.Asp617Ala) c.2945A>C (p.Asp982Ala) n.360A>C c.1022-1658A>C c.*241A>C (n.*241A>C) n.3884A>C n.2485A>C c.2996A>C (p.Asp999Ala) n.486A>C c.3044A>C (p.Asp1015Ala) c.3104A>C (p.Asp1035Ala) c.2654A>C (p.Asp885Ala) c.956A>C (p.Asp319Ala) c.877-1658A>C (n.877-1658A>C) c.3005A>C (p.Asp1002Ala) c.3061-1658A>C (n.3061-1658A>C) c.2726A>C (p.Asp909Ala) c.2731-1658A>C (n.2731-1658A>C) c.1808A>C (p.Asp603Ala) n.3359A>C | |
13 | g.51944212T= | CA2091564007 | ATP7B | c.*894-1658A= (n.*894-1658A=) c.*1884A= (n.*1884A=) c.2519A= (p.Asp840=) c.3140A= (p.Asp1047=) c.2807A= (p.Asp936=) c.2888A= (p.Asp963=) c.2906A= (p.Asp969=) n.3279A= n.3503A= c.2075A= (p.Asp692=) c.1850A= (p.Asp617=) c.2945A= (p.Asp982=) n.360A= c.1022-1658A= c.*241A= (n.*241A=) n.3884A= n.2485A= c.2996A= (p.Asp999=) n.486A= c.3044A= (p.Asp1015=) c.3104A= (p.Asp1035=) c.2654A= (p.Asp885=) c.956A= (p.Asp319=) c.877-1658A= (n.877-1658A=) c.3005A= (p.Asp1002=) c.3061-1658A= (n.3061-1658A=) c.2726A= (p.Asp909=) c.2731-1658A= (n.2731-1658A=) c.1808A= (p.Asp603=) n.3359A= | |
13 | g.51944212dup | CA2091564004 | ATP7B | c.*894-1658dup (n.*894-1658dup) c.*1884dup (n.*1884dup) c.2519dup (p.Asp840GlufsTer22) c.3140dup (p.Asp1047GlufsTer22) c.2807dup (p.Asp936GlufsTer22) c.2888dup (p.Asp963GlufsTer22) c.2906dup (p.Asp969GlufsTer22) n.3279dup n.3503dup c.2075dup (p.Asp692GlufsTer22) c.1850dup (p.Asp617GlufsTer22) c.2945dup (p.Asp982GlufsTer22) n.360dup c.1022-1658dup c.*241dup (n.*241dup) n.3884dup n.2485dup c.2996dup (p.Asp999GlufsTer22) n.486dup c.3044dup (p.Asp1015GlufsTer22) c.3104dup (p.Asp1035GlufsTer22) c.2654dup (p.Asp885GlufsTer22) c.956dup (p.Asp319GlufsTer22) c.877-1658dup (n.877-1658dup) c.3005dup (p.Asp1002GlufsTer22) c.3061-1658dup (n.3061-1658dup) c.2726dup (p.Asp909GlufsTer22) c.2731-1658dup (n.2731-1658dup) c.1808dup (p.Asp603GlufsTer22) n.3359dup | ClinVar dbSNP |
13 | g.51944213C>A | CA388030195 | ATP7B | c.*894-1659G>T (n.*894-1659G>T) c.*1883G>T (n.*1883G>T) c.2518G>T (p.Asp840Tyr) c.3139G>T (p.Asp1047Tyr) c.2806G>T (p.Asp936Tyr) c.2887G>T (p.Asp963Tyr) c.2905G>T (p.Asp969Tyr) n.3278G>T n.3502G>T c.2074G>T (p.Asp692Tyr) c.1849G>T (p.Asp617Tyr) c.2944G>T (p.Asp982Tyr) n.359G>T c.1022-1659G>T c.*240G>T (n.*240G>T) n.3883G>T n.2484G>T c.2995G>T (p.Asp999Tyr) n.485G>T c.3043G>T (p.Asp1015Tyr) c.3103G>T (p.Asp1035Tyr) c.2653G>T (p.Asp885Tyr) c.955G>T (p.Asp319Tyr) c.877-1659G>T (n.877-1659G>T) c.3004G>T (p.Asp1002Tyr) c.3061-1659G>T (n.3061-1659G>T) c.2725G>T (p.Asp909Tyr) c.2731-1659G>T (n.2731-1659G>T) c.1807G>T (p.Asp603Tyr) n.3358G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51944213C= | CA2091564017 | ATP7B | c.*894-1659G= (n.*894-1659G=) c.*1883G= (n.*1883G=) c.2518G= (p.Asp840=) c.3139G= (p.Asp1047=) c.2806G= (p.Asp936=) c.2887G= (p.Asp963=) c.2905G= (p.Asp969=) n.3278G= n.3502G= c.2074G= (p.Asp692=) c.1849G= (p.Asp617=) c.2944G= (p.Asp982=) n.359G= c.1022-1659G= c.*240G= (n.*240G=) n.3883G= n.2484G= c.2995G= (p.Asp999=) n.485G= c.3043G= (p.Asp1015=) c.3103G= (p.Asp1035=) c.2653G= (p.Asp885=) c.955G= (p.Asp319=) c.877-1659G= (n.877-1659G=) c.3004G= (p.Asp1002=) c.3061-1659G= (n.3061-1659G=) c.2725G= (p.Asp909=) c.2731-1659G= (n.2731-1659G=) c.1807G= (p.Asp603=) n.3358G= | |
13 | g.51944213C>G | CA388030197 | ATP7B | c.*894-1659G>C (n.*894-1659G>C) c.*1883G>C (n.*1883G>C) c.2518G>C (p.Asp840His) c.3139G>C (p.Asp1047His) c.2806G>C (p.Asp936His) c.2887G>C (p.Asp963His) c.2905G>C (p.Asp969His) n.3278G>C n.3502G>C c.2074G>C (p.Asp692His) c.1849G>C (p.Asp617His) c.2944G>C (p.Asp982His) n.359G>C c.1022-1659G>C c.*240G>C (n.*240G>C) n.3883G>C n.2484G>C c.2995G>C (p.Asp999His) n.485G>C c.3043G>C (p.Asp1015His) c.3103G>C (p.Asp1035His) c.2653G>C (p.Asp885His) c.955G>C (p.Asp319His) c.877-1659G>C (n.877-1659G>C) c.3004G>C (p.Asp1002His) c.3061-1659G>C (n.3061-1659G>C) c.2725G>C (p.Asp909His) c.2731-1659G>C (n.2731-1659G>C) c.1807G>C (p.Asp603His) n.3358G>C | |
13 | g.51944213C>T | CA388030198 | ATP7B | c.*894-1659G>A (n.*894-1659G>A) c.*1883G>A (n.*1883G>A) c.2518G>A (p.Asp840Asn) c.3139G>A (p.Asp1047Asn) c.2806G>A (p.Asp936Asn) c.2887G>A (p.Asp963Asn) c.2905G>A (p.Asp969Asn) n.3278G>A n.3502G>A c.2074G>A (p.Asp692Asn) c.1849G>A (p.Asp617Asn) c.2944G>A (p.Asp982Asn) n.359G>A c.1022-1659G>A c.*240G>A (n.*240G>A) n.3883G>A n.2484G>A c.2995G>A (p.Asp999Asn) n.485G>A c.3043G>A (p.Asp1015Asn) c.3103G>A (p.Asp1035Asn) c.2653G>A (p.Asp885Asn) c.955G>A (p.Asp319Asn) c.877-1659G>A (n.877-1659G>A) c.3004G>A (p.Asp1002Asn) c.3061-1659G>A (n.3061-1659G>A) c.2725G>A (p.Asp909Asn) c.2731-1659G>A (n.2731-1659G>A) c.1807G>A (p.Asp603Asn) n.3358G>A | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51944214C>A | CA483894718 | ATP7B | c.*894-1660G>T (n.*894-1660G>T) c.*1882G>T (n.*1882G>T) c.2517G>T (p.Gly839=) c.3138G>T (p.Gly1046=) c.2805G>T (p.Gly935=) c.2886G>T (p.Gly962=) c.2904G>T (p.Gly968=) n.3277G>T n.3501G>T c.2073G>T (p.Gly691=) c.1848G>T (p.Gly616=) c.2943G>T (p.Gly981=) n.358G>T c.1022-1660G>T c.*239G>T (n.*239G>T) n.3882G>T n.2483G>T c.2994G>T (p.Gly998=) n.484G>T c.3042G>T (p.Gly1014=) c.3102G>T (p.Gly1034=) c.2652G>T (p.Gly884=) c.954G>T (p.Gly318=) c.877-1660G>T (n.877-1660G>T) c.3003G>T (p.Gly1001=) c.3061-1660G>T (n.3061-1660G>T) c.2724G>T (p.Gly908=) c.2731-1660G>T (n.2731-1660G>T) c.1806G>T (p.Gly602=) n.3357G>T | |
13 | g.51944214C>G | CA483894719 | ATP7B | c.*894-1660G>C (n.*894-1660G>C) c.*1882G>C (n.*1882G>C) c.2517G>C (p.Gly839=) c.3138G>C (p.Gly1046=) c.2805G>C (p.Gly935=) c.2886G>C (p.Gly962=) c.2904G>C (p.Gly968=) n.3277G>C n.3501G>C c.2073G>C (p.Gly691=) c.1848G>C (p.Gly616=) c.2943G>C (p.Gly981=) n.358G>C c.1022-1660G>C c.*239G>C (n.*239G>C) n.3882G>C n.2483G>C c.2994G>C (p.Gly998=) n.484G>C c.3042G>C (p.Gly1014=) c.3102G>C (p.Gly1034=) c.2652G>C (p.Gly884=) c.954G>C (p.Gly318=) c.877-1660G>C (n.877-1660G>C) c.3003G>C (p.Gly1001=) c.3061-1660G>C (n.3061-1660G>C) c.2724G>C (p.Gly908=) c.2731-1660G>C (n.2731-1660G>C) c.1806G>C (p.Gly602=) n.3357G>C | |
13 | g.51944214C>T | CA483894720 | ATP7B | c.*894-1660G>A (n.*894-1660G>A) c.*1882G>A (n.*1882G>A) c.2517G>A (p.Gly839=) c.3138G>A (p.Gly1046=) c.2805G>A (p.Gly935=) c.2886G>A (p.Gly962=) c.2904G>A (p.Gly968=) n.3277G>A n.3501G>A c.2073G>A (p.Gly691=) c.1848G>A (p.Gly616=) c.2943G>A (p.Gly981=) n.358G>A c.1022-1660G>A c.*239G>A (n.*239G>A) n.3882G>A n.2483G>A c.2994G>A (p.Gly998=) n.484G>A c.3042G>A (p.Gly1014=) c.3102G>A (p.Gly1034=) c.2652G>A (p.Gly884=) c.954G>A (p.Gly318=) c.877-1660G>A (n.877-1660G>A) c.3003G>A (p.Gly1001=) c.3061-1660G>A (n.3061-1660G>A) c.2724G>A (p.Gly908=) c.2731-1660G>A (n.2731-1660G>A) c.1806G>A (p.Gly602=) n.3357G>A | ClinVar |
13 | g.51944215C>A | CA388030203 | ATP7B | c.*894-1661G>T (n.*894-1661G>T) c.*1881G>T (n.*1881G>T) c.2516G>T (p.Gly839Val) c.3137G>T (p.Gly1046Val) c.2804G>T (p.Gly935Val) c.2885G>T (p.Gly962Val) c.2903G>T (p.Gly968Val) n.3276G>T n.3500G>T c.2072G>T (p.Gly691Val) c.1847G>T (p.Gly616Val) c.2942G>T (p.Gly981Val) n.357G>T c.1022-1661G>T c.*238G>T (n.*238G>T) n.3881G>T n.2482G>T c.2993G>T (p.Gly998Val) n.483G>T c.3041G>T (p.Gly1014Val) c.3101G>T (p.Gly1034Val) c.2651G>T (p.Gly884Val) c.953G>T (p.Gly318Val) c.877-1661G>T (n.877-1661G>T) c.3002G>T (p.Gly1001Val) c.3061-1661G>T (n.3061-1661G>T) c.2723G>T (p.Gly908Val) c.2731-1661G>T (n.2731-1661G>T) c.1805G>T (p.Gly602Val) n.3356G>T | |
13 | g.51944215C>G | CA388030206 | ATP7B | c.*894-1661G>C (n.*894-1661G>C) c.*1881G>C (n.*1881G>C) c.2516G>C (p.Gly839Ala) c.3137G>C (p.Gly1046Ala) c.2804G>C (p.Gly935Ala) c.2885G>C (p.Gly962Ala) c.2903G>C (p.Gly968Ala) n.3276G>C n.3500G>C c.2072G>C (p.Gly691Ala) c.1847G>C (p.Gly616Ala) c.2942G>C (p.Gly981Ala) n.357G>C c.1022-1661G>C c.*238G>C (n.*238G>C) n.3881G>C n.2482G>C c.2993G>C (p.Gly998Ala) n.483G>C c.3041G>C (p.Gly1014Ala) c.3101G>C (p.Gly1034Ala) c.2651G>C (p.Gly884Ala) c.953G>C (p.Gly318Ala) c.877-1661G>C (n.877-1661G>C) c.3002G>C (p.Gly1001Ala) c.3061-1661G>C (n.3061-1661G>C) c.2723G>C (p.Gly908Ala) c.2731-1661G>C (n.2731-1661G>C) c.1805G>C (p.Gly602Ala) n.3356G>C | gnomAD v4 |
13 | g.51944215C>T | CA388030207 | ATP7B | c.*894-1661G>A (n.*894-1661G>A) c.*1881G>A (n.*1881G>A) c.2516G>A (p.Gly839Glu) c.3137G>A (p.Gly1046Glu) c.2804G>A (p.Gly935Glu) c.2885G>A (p.Gly962Glu) c.2903G>A (p.Gly968Glu) n.3276G>A n.3500G>A c.2072G>A (p.Gly691Glu) c.1847G>A (p.Gly616Glu) c.2942G>A (p.Gly981Glu) n.357G>A c.1022-1661G>A c.*238G>A (n.*238G>A) n.3881G>A n.2482G>A c.2993G>A (p.Gly998Glu) n.483G>A c.3041G>A (p.Gly1014Glu) c.3101G>A (p.Gly1034Glu) c.2651G>A (p.Gly884Glu) c.953G>A (p.Gly318Glu) c.877-1661G>A (n.877-1661G>A) c.3002G>A (p.Gly1001Glu) c.3061-1661G>A (n.3061-1661G>A) c.2723G>A (p.Gly908Glu) c.2731-1661G>A (n.2731-1661G>A) c.1805G>A (p.Gly602Glu) n.3356G>A | gnomAD v4 |