| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51949694_51949701del | CA912974800 | ATP7B | c.*659_*666del (n.*659_*666del) c.*1570_*1577del (n.*1570_*1577del) c.2244+306_2244+313del (n.2244+306_2244+313del) c.2826_2833del (p.Gly943ArgfsTer11) c.2493_2500del (p.Gly832ArgfsTer11) c.2574_2581del (p.Gly859ArgfsTer11) c.2592_2599del (p.Gly865ArgfsTer11) n.6_13del c.1800+306_1800+313del (n.1800+306_1800+313del) c.1536_1543del (p.Gly513ArgfsTer11) c.2826_2833del (p.Gly943ArgfsTer17) c.787_794del c.2592_2599del (p.Gly865ArgfsTer?) n.3609+15_3609+22del n.2171_2178del c.2682_2689del (p.Gly895ArgfsTer11) n.212-3223_212-3216del c.2730_2737del (p.Gly911ArgfsTer11) c.2790_2797del (p.Gly931ArgfsTer11) c.2340_2347del (p.Gly781ArgfsTer11) c.642_649del (p.Gly215ArgfsTer11) c.2730+306_2730+313del (n.2730+306_2730+313del) c.2412_2419del (p.Gly805ArgfsTer11) c.1494_1501del (p.Gly499ArgfsTer11) n.3045_3052del | |
| 13 | g.51949694_51949701delinsTAAAACCG | CA2091541330 | ATP7B | c.*659_*666delinsCGGTTTTA (n.*659_*666delinsCGGTTTTA) c.*1570_*1577delinsCGGTTTTA (n.*1570_*1577delinsCGGTTTTA) c.2244+306_2244+313delinsCGGTTTTA (n.2244+306_2244+313delinsCGGTTTTA) c.2826_2833delinsCGGTTTTA (p.Ile942=) c.2493_2500delinsCGGTTTTA (p.Ile831=) c.2574_2581delinsCGGTTTTA (p.Ile858=) c.2592_2599delinsCGGTTTTA (p.Ile864=) n.6_13delinsCGGTTTTA c.1800+306_1800+313delinsCGGTTTTA (n.1800+306_1800+313delinsCGGTTTTA) c.1536_1543delinsCGGTTTTA (p.Ile512=) c.787_794delinsCGGTTTTA n.3609+15_3609+22delinsCGGTTTTA n.2171_2178delinsCGGTTTTA c.2682_2689delinsCGGTTTTA (p.Ile894=) n.212-3223_212-3216delinsCGGTTTTA c.2730_2737delinsCGGTTTTA (p.Ile910=) c.2790_2797delinsCGGTTTTA (p.Ile930=) c.2340_2347delinsCGGTTTTA (p.Ile780=) c.642_649delinsCGGTTTTA (p.Ile214=) c.2730+306_2730+313delinsCGGTTTTA (n.2730+306_2730+313delinsCGGTTTTA) c.2412_2419delinsCGGTTTTA (p.Ile804=) c.1494_1501delinsCGGTTTTA (p.Ile498=) n.3045_3052delinsCGGTTTTA | |
| 13 | g.51949696_51949702del | CA658823707 | ATP7B | c.*659_*665del (n.*659_*665del) c.*1570_*1576del (n.*1570_*1576del) c.2244+306_2244+312del (n.2244+306_2244+312del) c.2826_2832del (p.Gly943SerfsTer22) c.2493_2499del (p.Gly832SerfsTer22) c.2574_2580del (p.Gly859SerfsTer22) c.2592_2598del (p.Gly865SerfsTer22) n.6_12del c.1800+306_1800+312del (n.1800+306_1800+312del) c.1536_1542del (p.Gly513SerfsTer22) c.2826_2832del (p.Gly943SerfsTer12) c.787_793del c.2592_2598del (p.Gly865SerfsTer17) n.3609+15_3609+21del n.2171_2177del c.2682_2688del (p.Gly895SerfsTer22) n.212-3223_212-3217del c.2730_2736del (p.Gly911SerfsTer22) c.2790_2796del (p.Gly931SerfsTer22) c.2340_2346del (p.Gly781SerfsTer22) c.642_648del (p.Gly215SerfsTer22) c.2730+306_2730+312del (n.2730+306_2730+312del) c.2412_2418del (p.Gly805SerfsTer22) c.1494_1500del (p.Gly499SerfsTer22) n.3045_3051del | ClinVar dbSNP |
| 13 | g.51949700C>A | CA388033415 | ATP7B | c.*660G>T (n.*660G>T) c.*1571G>T (n.*1571G>T) c.2244+307G>T (n.2244+307G>T) c.2827G>T (p.Gly943Cys) c.2494G>T (p.Gly832Cys) c.2575G>T (p.Gly859Cys) c.2593G>T (p.Gly865Cys) n.7G>T c.1800+307G>T (n.1800+307G>T) c.1537G>T (p.Gly513Cys) c.788G>T n.3609+16G>T n.2172G>T c.2683G>T (p.Gly895Cys) n.212-3222G>T c.2731G>T (p.Gly911Cys) c.2791G>T (p.Gly931Cys) c.2341G>T (p.Gly781Cys) c.643G>T (p.Gly215Cys) c.2730+307G>T (n.2730+307G>T) c.2413G>T (p.Gly805Cys) c.1495G>T (p.Gly499Cys) n.3046G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.51949700C= | CA2091541351 | ATP7B | c.*660G= (n.*660G=) c.*1571G= (n.*1571G=) c.2244+307G= (n.2244+307G=) c.2827G= (p.Gly943=) c.2494G= (p.Gly832=) c.2575G= (p.Gly859=) c.2593G= (p.Gly865=) n.7G= c.1800+307G= (n.1800+307G=) c.1537G= (p.Gly513=) c.788G= n.3609+16G= n.2172G= c.2683G= (p.Gly895=) n.212-3222G= c.2731G= (p.Gly911=) c.2791G= (p.Gly931=) c.2341G= (p.Gly781=) c.643G= (p.Gly215=) c.2730+307G= (n.2730+307G=) c.2413G= (p.Gly805=) c.1495G= (p.Gly499=) n.3046G= | |
| 13 | g.51949700C>G | CA388033418 | ATP7B | c.*660G>C (n.*660G>C) c.*1571G>C (n.*1571G>C) c.2244+307G>C (n.2244+307G>C) c.2827G>C (p.Gly943Arg) c.2494G>C (p.Gly832Arg) c.2575G>C (p.Gly859Arg) c.2593G>C (p.Gly865Arg) n.7G>C c.1800+307G>C (n.1800+307G>C) c.1537G>C (p.Gly513Arg) c.788G>C n.3609+16G>C n.2172G>C c.2683G>C (p.Gly895Arg) n.212-3222G>C c.2731G>C (p.Gly911Arg) c.2791G>C (p.Gly931Arg) c.2341G>C (p.Gly781Arg) c.643G>C (p.Gly215Arg) c.2730+307G>C (n.2730+307G>C) c.2413G>C (p.Gly805Arg) c.1495G>C (p.Gly499Arg) n.3046G>C | dbSNP gnomAD v4 |
| 13 | g.51949700C>T | CA252894 | ATP7B | c.*660G>A (n.*660G>A) c.*1571G>A (n.*1571G>A) c.2244+307G>A (n.2244+307G>A) c.2827G>A (p.Gly943Ser) c.2494G>A (p.Gly832Ser) c.2575G>A (p.Gly859Ser) c.2593G>A (p.Gly865Ser) n.7G>A c.1800+307G>A (n.1800+307G>A) c.1537G>A (p.Gly513Ser) c.788G>A n.3609+16G>A n.2172G>A c.2683G>A (p.Gly895Ser) n.212-3222G>A c.2731G>A (p.Gly911Ser) c.2791G>A (p.Gly931Ser) c.2341G>A (p.Gly781Ser) c.643G>A (p.Gly215Ser) c.2730+307G>A (n.2730+307G>A) c.2413G>A (p.Gly805Ser) c.1495G>A (p.Gly499Ser) n.3046G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51949701G>A | CA6988901 | ATP7B | c.*659C>T (n.*659C>T) c.*1570C>T (n.*1570C>T) c.2244+306C>T (n.2244+306C>T) c.2826C>T (p.Ile942=) c.2493C>T (p.Ile831=) c.2574C>T (p.Ile858=) c.2592C>T (p.Ile864=) n.6C>T c.1800+306C>T (n.1800+306C>T) c.1536C>T (p.Ile512=) c.787C>T n.3609+15C>T n.2171C>T c.2682C>T (p.Ile894=) n.212-3223C>T c.2730C>T (p.Ile910=) c.2790C>T (p.Ile930=) c.2340C>T (p.Ile780=) c.642C>T (p.Ile214=) c.2730+306C>T (n.2730+306C>T) c.2412C>T (p.Ile804=) c.1494C>T (p.Ile498=) n.3045C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51949701G>C | CA388033423 | ATP7B | c.*659C>G (n.*659C>G) c.*1570C>G (n.*1570C>G) c.2244+306C>G (n.2244+306C>G) c.2826C>G (p.Ile942Met) c.2493C>G (p.Ile831Met) c.2574C>G (p.Ile858Met) c.2592C>G (p.Ile864Met) n.6C>G c.1800+306C>G (n.1800+306C>G) c.1536C>G (p.Ile512Met) c.787C>G n.3609+15C>G n.2171C>G c.2682C>G (p.Ile894Met) n.212-3223C>G c.2730C>G (p.Ile910Met) c.2790C>G (p.Ile930Met) c.2340C>G (p.Ile780Met) c.642C>G (p.Ile214Met) c.2730+306C>G (n.2730+306C>G) c.2412C>G (p.Ile804Met) c.1494C>G (p.Ile498Met) n.3045C>G | |
| 13 | g.51949701G= | CA2091541358 | ATP7B | c.*659C= (n.*659C=) c.*1570C= (n.*1570C=) c.2244+306C= (n.2244+306C=) c.2826C= (p.Ile942=) c.2493C= (p.Ile831=) c.2574C= (p.Ile858=) c.2592C= (p.Ile864=) n.6C= c.1800+306C= (n.1800+306C=) c.1536C= (p.Ile512=) c.787C= n.3609+15C= n.2171C= c.2682C= (p.Ile894=) n.212-3223C= c.2730C= (p.Ile910=) c.2790C= (p.Ile930=) c.2340C= (p.Ile780=) c.642C= (p.Ile214=) c.2730+306C= (n.2730+306C=) c.2412C= (p.Ile804=) c.1494C= (p.Ile498=) n.3045C= | |
| 13 | g.51949701G>T | CA6988902 | ATP7B | c.*659C>A (n.*659C>A) c.*1570C>A (n.*1570C>A) c.2244+306C>A (n.2244+306C>A) c.2826C>A (p.Ile942=) c.2493C>A (p.Ile831=) c.2574C>A (p.Ile858=) c.2592C>A (p.Ile864=) n.6C>A c.1800+306C>A (n.1800+306C>A) c.1536C>A (p.Ile512=) c.787C>A n.3609+15C>A n.2171C>A c.2682C>A (p.Ile894=) n.212-3223C>A c.2730C>A (p.Ile910=) c.2790C>A (p.Ile930=) c.2340C>A (p.Ile780=) c.642C>A (p.Ile214=) c.2730+306C>A (n.2730+306C>A) c.2412C>A (p.Ile804=) c.1494C>A (p.Ile498=) n.3045C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51949702A>C | CA388033435 | ATP7B | c.*658T>G (n.*658T>G) c.*1569T>G (n.*1569T>G) c.2244+305T>G (n.2244+305T>G) c.2825T>G (p.Ile942Ser) c.2492T>G (p.Ile831Ser) c.2573T>G (p.Ile858Ser) c.2591T>G (p.Ile864Ser) n.5T>G c.1800+305T>G (n.1800+305T>G) c.1535T>G (p.Ile512Ser) c.786T>G n.3609+14T>G n.2170T>G c.2681T>G (p.Ile894Ser) n.212-3224T>G c.2729T>G (p.Ile910Ser) c.2789T>G (p.Ile930Ser) c.2339T>G (p.Ile780Ser) c.641T>G (p.Ile214Ser) c.2730+305T>G (n.2730+305T>G) c.2411T>G (p.Ile804Ser) c.1493T>G (p.Ile498Ser) n.3044T>G | |
| 13 | g.51949702A>G | CA388033431 | ATP7B | c.*658T>C (n.*658T>C) c.*1569T>C (n.*1569T>C) c.2244+305T>C (n.2244+305T>C) c.2825T>C (p.Ile942Thr) c.2492T>C (p.Ile831Thr) c.2573T>C (p.Ile858Thr) c.2591T>C (p.Ile864Thr) n.5T>C c.1800+305T>C (n.1800+305T>C) c.1535T>C (p.Ile512Thr) c.786T>C n.3609+14T>C n.2170T>C c.2681T>C (p.Ile894Thr) n.212-3224T>C c.2729T>C (p.Ile910Thr) c.2789T>C (p.Ile930Thr) c.2339T>C (p.Ile780Thr) c.641T>C (p.Ile214Thr) c.2730+305T>C (n.2730+305T>C) c.2411T>C (p.Ile804Thr) c.1493T>C (p.Ile498Thr) n.3044T>C | |
| 13 | g.51949702A>T | CA388033428 | ATP7B | c.*658T>A (n.*658T>A) c.*1569T>A (n.*1569T>A) c.2244+305T>A (n.2244+305T>A) c.2825T>A (p.Ile942Asn) c.2492T>A (p.Ile831Asn) c.2573T>A (p.Ile858Asn) c.2591T>A (p.Ile864Asn) n.5T>A c.1800+305T>A (n.1800+305T>A) c.1535T>A (p.Ile512Asn) c.786T>A n.3609+14T>A n.2170T>A c.2681T>A (p.Ile894Asn) n.212-3224T>A c.2729T>A (p.Ile910Asn) c.2789T>A (p.Ile930Asn) c.2339T>A (p.Ile780Asn) c.641T>A (p.Ile214Asn) c.2730+305T>A (n.2730+305T>A) c.2411T>A (p.Ile804Asn) c.1493T>A (p.Ile498Asn) n.3044T>A | |
| 13 | g.51949703T>A | CA388033449 | ATP7B | c.*657A>T (n.*657A>T) c.*1568A>T (n.*1568A>T) c.2244+304A>T (n.2244+304A>T) c.2824A>T (p.Ile942Phe) c.2491A>T (p.Ile831Phe) c.2572A>T (p.Ile858Phe) c.2590A>T (p.Ile864Phe) n.4A>T c.1800+304A>T (n.1800+304A>T) c.1534A>T (p.Ile512Phe) c.785A>T n.3609+13A>T n.2169A>T c.2680A>T (p.Ile894Phe) n.212-3225A>T c.2728A>T (p.Ile910Phe) c.2788A>T (p.Ile930Phe) c.2338A>T (p.Ile780Phe) c.640A>T (p.Ile214Phe) c.2730+304A>T (n.2730+304A>T) c.2410A>T (p.Ile804Phe) c.1492A>T (p.Ile498Phe) n.3043A>T | |
| 13 | g.51949703T>C | CA388033452 | ATP7B | c.*657A>G (n.*657A>G) c.*1568A>G (n.*1568A>G) c.2244+304A>G (n.2244+304A>G) c.2824A>G (p.Ile942Val) c.2491A>G (p.Ile831Val) c.2572A>G (p.Ile858Val) c.2590A>G (p.Ile864Val) n.4A>G c.1800+304A>G (n.1800+304A>G) c.1534A>G (p.Ile512Val) c.785A>G n.3609+13A>G n.2169A>G c.2680A>G (p.Ile894Val) n.212-3225A>G c.2728A>G (p.Ile910Val) c.2788A>G (p.Ile930Val) c.2338A>G (p.Ile780Val) c.640A>G (p.Ile214Val) c.2730+304A>G (n.2730+304A>G) c.2410A>G (p.Ile804Val) c.1492A>G (p.Ile498Val) n.3043A>G | |
| 13 | g.51949703T>G | CA388033460 | ATP7B | c.*657A>C (n.*657A>C) c.*1568A>C (n.*1568A>C) c.2244+304A>C (n.2244+304A>C) c.2824A>C (p.Ile942Leu) c.2491A>C (p.Ile831Leu) c.2572A>C (p.Ile858Leu) c.2590A>C (p.Ile864Leu) n.4A>C c.1800+304A>C (n.1800+304A>C) c.1534A>C (p.Ile512Leu) c.785A>C n.3609+13A>C n.2169A>C c.2680A>C (p.Ile894Leu) n.212-3225A>C c.2728A>C (p.Ile910Leu) c.2788A>C (p.Ile930Leu) c.2338A>C (p.Ile780Leu) c.640A>C (p.Ile214Leu) c.2730+304A>C (n.2730+304A>C) c.2410A>C (p.Ile804Leu) c.1492A>C (p.Ile498Leu) n.3043A>C | |
| 13 | g.51949704T>A | CA484024483 | ATP7B | c.*656A>T (n.*656A>T) c.*1567A>T (n.*1567A>T) c.2244+303A>T (n.2244+303A>T) c.2823A>T (p.Val941=) c.2490A>T (p.Val830=) c.2571A>T (p.Val857=) c.2589A>T (p.Val863=) n.3A>T c.1800+303A>T (n.1800+303A>T) c.1533A>T (p.Val511=) c.784A>T n.3609+12A>T n.2168A>T c.2679A>T (p.Val893=) n.212-3226A>T c.2727A>T (p.Val909=) c.2787A>T (p.Val929=) c.2337A>T (p.Val779=) c.639A>T (p.Val213=) c.2730+303A>T (n.2730+303A>T) c.2409A>T (p.Val803=) c.1491A>T (p.Val497=) n.3042A>T | |
| 13 | g.51949704T>C | CA484024484 | ATP7B | c.*656A>G (n.*656A>G) c.*1567A>G (n.*1567A>G) c.2244+303A>G (n.2244+303A>G) c.2823A>G (p.Val941=) c.2490A>G (p.Val830=) c.2571A>G (p.Val857=) c.2589A>G (p.Val863=) n.3A>G c.1800+303A>G (n.1800+303A>G) c.1533A>G (p.Val511=) c.784A>G n.3609+12A>G n.2168A>G c.2679A>G (p.Val893=) n.212-3226A>G c.2727A>G (p.Val909=) c.2787A>G (p.Val929=) c.2337A>G (p.Val779=) c.639A>G (p.Val213=) c.2730+303A>G (n.2730+303A>G) c.2409A>G (p.Val803=) c.1491A>G (p.Val497=) n.3042A>G | |
| 13 | g.51949704T>G | CA484024485 | ATP7B | c.*656A>C (n.*656A>C) c.*1567A>C (n.*1567A>C) c.2244+303A>C (n.2244+303A>C) c.2823A>C (p.Val941=) c.2490A>C (p.Val830=) c.2571A>C (p.Val857=) c.2589A>C (p.Val863=) n.3A>C c.1800+303A>C (n.1800+303A>C) c.1533A>C (p.Val511=) c.784A>C n.3609+12A>C n.2168A>C c.2679A>C (p.Val893=) n.212-3226A>C c.2727A>C (p.Val909=) c.2787A>C (p.Val929=) c.2337A>C (p.Val779=) c.639A>C (p.Val213=) c.2730+303A>C (n.2730+303A>C) c.2409A>C (p.Val803=) c.1491A>C (p.Val497=) n.3042A>C | ClinVar dbSNP |
| 13 | g.51949705A>C | CA388033463 | ATP7B | c.*655T>G (n.*655T>G) c.*1566T>G (n.*1566T>G) c.2244+302T>G (n.2244+302T>G) c.2822T>G (p.Val941Gly) c.2489T>G (p.Val830Gly) c.2570T>G (p.Val857Gly) c.2588T>G (p.Val863Gly) n.2T>G c.1800+302T>G (n.1800+302T>G) c.1532T>G (p.Val511Gly) c.783T>G n.3609+11T>G n.2167T>G c.2678T>G (p.Val893Gly) n.212-3227T>G c.2726T>G (p.Val909Gly) c.2786T>G (p.Val929Gly) c.2336T>G (p.Val779Gly) c.638T>G (p.Val213Gly) c.2730+302T>G (n.2730+302T>G) c.2408T>G (p.Val803Gly) c.1490T>G (p.Val497Gly) n.3041T>G | |
| 13 | g.51949705A>G | CA388033472 | ATP7B | c.*655T>C (n.*655T>C) c.*1566T>C (n.*1566T>C) c.2244+302T>C (n.2244+302T>C) c.2822T>C (p.Val941Ala) c.2489T>C (p.Val830Ala) c.2570T>C (p.Val857Ala) c.2588T>C (p.Val863Ala) n.2T>C c.1800+302T>C (n.1800+302T>C) c.1532T>C (p.Val511Ala) c.783T>C n.3609+11T>C n.2167T>C c.2678T>C (p.Val893Ala) n.212-3227T>C c.2726T>C (p.Val909Ala) c.2786T>C (p.Val929Ala) c.2336T>C (p.Val779Ala) c.638T>C (p.Val213Ala) c.2730+302T>C (n.2730+302T>C) c.2408T>C (p.Val803Ala) c.1490T>C (p.Val497Ala) n.3041T>C | |
| 13 | g.51949705A>T | CA388033474 | ATP7B | c.*655T>A (n.*655T>A) c.*1566T>A (n.*1566T>A) c.2244+302T>A (n.2244+302T>A) c.2822T>A (p.Val941Glu) c.2489T>A (p.Val830Glu) c.2570T>A (p.Val857Glu) c.2588T>A (p.Val863Glu) n.2T>A c.1800+302T>A (n.1800+302T>A) c.1532T>A (p.Val511Glu) c.783T>A n.3609+11T>A n.2167T>A c.2678T>A (p.Val893Glu) n.212-3227T>A c.2726T>A (p.Val909Glu) c.2786T>A (p.Val929Glu) c.2336T>A (p.Val779Glu) c.638T>A (p.Val213Glu) c.2730+302T>A (n.2730+302T>A) c.2408T>A (p.Val803Glu) c.1490T>A (p.Val497Glu) n.3041T>A | |
| 13 | g.51949706C>A | CA388033478 | ATP7B | c.*654G>T (n.*654G>T) c.*1565G>T (n.*1565G>T) c.2244+301G>T (n.2244+301G>T) c.2821G>T (p.Val941Leu) c.2488G>T (p.Val830Leu) c.2569G>T (p.Val857Leu) c.2587G>T (p.Val863Leu) n.1G>T c.1800+301G>T (n.1800+301G>T) c.1531G>T (p.Val511Leu) c.782G>T n.3609+10G>T n.2166G>T c.2677G>T (p.Val893Leu) n.212-3228G>T c.2725G>T (p.Val909Leu) c.2785G>T (p.Val929Leu) c.2335G>T (p.Val779Leu) c.637G>T (p.Val213Leu) c.2730+301G>T (n.2730+301G>T) c.2407G>T (p.Val803Leu) c.1489G>T (p.Val497Leu) n.3040G>T | gnomAD v4 |
| 13 | g.51949706C>G | CA388033480 | ATP7B | c.*654G>C (n.*654G>C) c.*1565G>C (n.*1565G>C) c.2244+301G>C (n.2244+301G>C) c.2821G>C (p.Val941Leu) c.2488G>C (p.Val830Leu) c.2569G>C (p.Val857Leu) c.2587G>C (p.Val863Leu) n.1G>C c.1800+301G>C (n.1800+301G>C) c.1531G>C (p.Val511Leu) c.782G>C n.3609+10G>C n.2166G>C c.2677G>C (p.Val893Leu) n.212-3228G>C c.2725G>C (p.Val909Leu) c.2785G>C (p.Val929Leu) c.2335G>C (p.Val779Leu) c.637G>C (p.Val213Leu) c.2730+301G>C (n.2730+301G>C) c.2407G>C (p.Val803Leu) c.1489G>C (p.Val497Leu) n.3040G>C | |
| 13 | g.51949706C>T | CA388033482 | ATP7B | c.*654G>A (n.*654G>A) c.*1565G>A (n.*1565G>A) c.2244+301G>A (n.2244+301G>A) c.2821G>A (p.Val941Ile) c.2488G>A (p.Val830Ile) c.2569G>A (p.Val857Ile) c.2587G>A (p.Val863Ile) n.1G>A c.1800+301G>A (n.1800+301G>A) c.1531G>A (p.Val511Ile) c.782G>A n.3609+10G>A n.2166G>A c.2677G>A (p.Val893Ile) n.212-3228G>A c.2725G>A (p.Val909Ile) c.2785G>A (p.Val929Ile) c.2335G>A (p.Val779Ile) c.637G>A (p.Val213Ile) c.2730+301G>A (n.2730+301G>A) c.2407G>A (p.Val803Ile) c.1489G>A (p.Val497Ile) n.3040G>A | |
| 13 | g.51949709_51949721del | CA2623118045 | ATP7B | c.*642_*654del (n.*642_*654del) c.*1553_*1565del (n.*1553_*1565del) c.2244+289_2244+301del (n.2244+289_2244+301del) c.2809_2821del (p.Val937Ter) c.2476_2488del (p.Val826Ter) c.2557_2569del (p.Val853Ter) c.2575_2587del (p.Val859Ter) c.1800+289_1800+301del (n.1800+289_1800+301del) c.1519_1531del (p.Val507Ter) c.770_782del n.3607_3609+10del n.2154_2166del c.2665_2677del (p.Val889Ter) n.212-3240_212-3228del c.2713_2725del (p.Val905Ter) c.2773_2785del (p.Val925Ter) c.2323_2335del (p.Val775Ter) c.625_637del (p.Val209Ter) c.2730+289_2730+301del (n.2730+289_2730+301del) c.2395_2407del (p.Val799Ter) c.1477_1489del (p.Val493Ter) n.3028_3040del | gnomAD v4 |
| 13 | g.51949707A>C | CA388033483 | ATP7B | c.*653T>G (n.*653T>G) c.*1564T>G (n.*1564T>G) c.2244+300T>G (n.2244+300T>G) c.2820T>G (p.Ile940Met) c.2487T>G (p.Ile829Met) c.2568T>G (p.Ile856Met) c.2586T>G (p.Ile862Met) c.1800+300T>G (n.1800+300T>G) c.1530T>G (p.Ile510Met) c.781T>G n.3609+9T>G n.2165T>G c.2676T>G (p.Ile892Met) n.212-3229T>G c.2724T>G (p.Ile908Met) c.2784T>G (p.Ile928Met) c.2334T>G (p.Ile778Met) c.636T>G (p.Ile212Met) c.2730+300T>G (n.2730+300T>G) c.2406T>G (p.Ile802Met) c.1488T>G (p.Ile496Met) n.3039T>G | |
| 13 | g.51949707A>G | CA484024487 | ATP7B | c.*653T>C (n.*653T>C) c.*1564T>C (n.*1564T>C) c.2244+300T>C (n.2244+300T>C) c.2820T>C (p.Ile940=) c.2487T>C (p.Ile829=) c.2568T>C (p.Ile856=) c.2586T>C (p.Ile862=) c.1800+300T>C (n.1800+300T>C) c.1530T>C (p.Ile510=) c.781T>C n.3609+9T>C n.2165T>C c.2676T>C (p.Ile892=) n.212-3229T>C c.2724T>C (p.Ile908=) c.2784T>C (p.Ile928=) c.2334T>C (p.Ile778=) c.636T>C (p.Ile212=) c.2730+300T>C (n.2730+300T>C) c.2406T>C (p.Ile802=) c.1488T>C (p.Ile496=) n.3039T>C | |
| 13 | g.51949707A>T | CA484024488 | ATP7B | c.*653T>A (n.*653T>A) c.*1564T>A (n.*1564T>A) c.2244+300T>A (n.2244+300T>A) c.2820T>A (p.Ile940=) c.2487T>A (p.Ile829=) c.2568T>A (p.Ile856=) c.2586T>A (p.Ile862=) c.1800+300T>A (n.1800+300T>A) c.1530T>A (p.Ile510=) c.781T>A n.3609+9T>A n.2165T>A c.2676T>A (p.Ile892=) n.212-3229T>A c.2724T>A (p.Ile908=) c.2784T>A (p.Ile928=) c.2334T>A (p.Ile778=) c.636T>A (p.Ile212=) c.2730+300T>A (n.2730+300T>A) c.2406T>A (p.Ile802=) c.1488T>A (p.Ile496=) n.3039T>A | |
| 13 | g.51949708A= | CA2091541360 | ATP7B | c.*652T= (n.*652T=) c.*1563T= (n.*1563T=) c.2244+299T= (n.2244+299T=) c.2819T= (p.Ile940=) c.2486T= (p.Ile829=) c.2567T= (p.Ile856=) c.2585T= (p.Ile862=) c.1800+299T= (n.1800+299T=) c.1529T= (p.Ile510=) c.780T= n.3609+8T= n.2164T= c.2675T= (p.Ile892=) n.212-3230T= c.2723T= (p.Ile908=) c.2783T= (p.Ile928=) c.2333T= (p.Ile778=) c.635T= (p.Ile212=) c.2730+299T= (n.2730+299T=) c.2405T= (p.Ile802=) c.1487T= (p.Ile496=) n.3038T= | |
| 13 | g.51949708A>C | CA388033486 | ATP7B | c.*652T>G (n.*652T>G) c.*1563T>G (n.*1563T>G) c.2244+299T>G (n.2244+299T>G) c.2819T>G (p.Ile940Ser) c.2486T>G (p.Ile829Ser) c.2567T>G (p.Ile856Ser) c.2585T>G (p.Ile862Ser) c.1800+299T>G (n.1800+299T>G) c.1529T>G (p.Ile510Ser) c.780T>G n.3609+8T>G n.2164T>G c.2675T>G (p.Ile892Ser) n.212-3230T>G c.2723T>G (p.Ile908Ser) c.2783T>G (p.Ile928Ser) c.2333T>G (p.Ile778Ser) c.635T>G (p.Ile212Ser) c.2730+299T>G (n.2730+299T>G) c.2405T>G (p.Ile802Ser) c.1487T>G (p.Ile496Ser) n.3038T>G | |
| 13 | g.51949708A>G | CA6988903 | ATP7B | c.*652T>C (n.*652T>C) c.*1563T>C (n.*1563T>C) c.2244+299T>C (n.2244+299T>C) c.2819T>C (p.Ile940Thr) c.2486T>C (p.Ile829Thr) c.2567T>C (p.Ile856Thr) c.2585T>C (p.Ile862Thr) c.1800+299T>C (n.1800+299T>C) c.1529T>C (p.Ile510Thr) c.780T>C n.3609+8T>C n.2164T>C c.2675T>C (p.Ile892Thr) n.212-3230T>C c.2723T>C (p.Ile908Thr) c.2783T>C (p.Ile928Thr) c.2333T>C (p.Ile778Thr) c.635T>C (p.Ile212Thr) c.2730+299T>C (n.2730+299T>C) c.2405T>C (p.Ile802Thr) c.1487T>C (p.Ile496Thr) n.3038T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51949708A>T | CA388033497 | ATP7B | c.*652T>A (n.*652T>A) c.*1563T>A (n.*1563T>A) c.2244+299T>A (n.2244+299T>A) c.2819T>A (p.Ile940Asn) c.2486T>A (p.Ile829Asn) c.2567T>A (p.Ile856Asn) c.2585T>A (p.Ile862Asn) c.1800+299T>A (n.1800+299T>A) c.1529T>A (p.Ile510Asn) c.780T>A n.3609+8T>A n.2164T>A c.2675T>A (p.Ile892Asn) n.212-3230T>A c.2723T>A (p.Ile908Asn) c.2783T>A (p.Ile928Asn) c.2333T>A (p.Ile778Asn) c.635T>A (p.Ile212Asn) c.2730+299T>A (n.2730+299T>A) c.2405T>A (p.Ile802Asn) c.1487T>A (p.Ile496Asn) n.3038T>A | |
| 13 | g.51949709T>A | CA388033502 | ATP7B | c.*651A>T (n.*651A>T) c.*1562A>T (n.*1562A>T) c.2244+298A>T (n.2244+298A>T) c.2818A>T (p.Ile940Phe) c.2485A>T (p.Ile829Phe) c.2566A>T (p.Ile856Phe) c.2584A>T (p.Ile862Phe) c.1800+298A>T (n.1800+298A>T) c.1528A>T (p.Ile510Phe) c.779A>T n.3609+7A>T n.2163A>T c.2674A>T (p.Ile892Phe) n.212-3231A>T c.2722A>T (p.Ile908Phe) c.2782A>T (p.Ile928Phe) c.2332A>T (p.Ile778Phe) c.634A>T (p.Ile212Phe) c.2730+298A>T (n.2730+298A>T) c.2404A>T (p.Ile802Phe) c.1486A>T (p.Ile496Phe) n.3037A>T | |
| 13 | g.51949709T>C | CA388033504 | ATP7B | c.*651A>G (n.*651A>G) c.*1562A>G (n.*1562A>G) c.2244+298A>G (n.2244+298A>G) c.2818A>G (p.Ile940Val) c.2485A>G (p.Ile829Val) c.2566A>G (p.Ile856Val) c.2584A>G (p.Ile862Val) c.1800+298A>G (n.1800+298A>G) c.1528A>G (p.Ile510Val) c.779A>G n.3609+7A>G n.2163A>G c.2674A>G (p.Ile892Val) n.212-3231A>G c.2722A>G (p.Ile908Val) c.2782A>G (p.Ile928Val) c.2332A>G (p.Ile778Val) c.634A>G (p.Ile212Val) c.2730+298A>G (n.2730+298A>G) c.2404A>G (p.Ile802Val) c.1486A>G (p.Ile496Val) n.3037A>G | |
| 13 | g.51949709T>G | CA388033500 | ATP7B | c.*651A>C (n.*651A>C) c.*1562A>C (n.*1562A>C) c.2244+298A>C (n.2244+298A>C) c.2818A>C (p.Ile940Leu) c.2485A>C (p.Ile829Leu) c.2566A>C (p.Ile856Leu) c.2584A>C (p.Ile862Leu) c.1800+298A>C (n.1800+298A>C) c.1528A>C (p.Ile510Leu) c.779A>C n.3609+7A>C n.2163A>C c.2674A>C (p.Ile892Leu) n.212-3231A>C c.2722A>C (p.Ile908Leu) c.2782A>C (p.Ile928Leu) c.2332A>C (p.Ile778Leu) c.634A>C (p.Ile212Leu) c.2730+298A>C (n.2730+298A>C) c.2404A>C (p.Ile802Leu) c.1486A>C (p.Ile496Leu) n.3037A>C | |
| 13 | g.51949710C>A | CA16041667 | ATP7B | c.*650G>T (n.*650G>T) c.*1561G>T (n.*1561G>T) c.2244+297G>T (n.2244+297G>T) c.2817G>T (p.Trp939Cys) c.2484G>T (p.Trp828Cys) c.2565G>T (p.Trp855Cys) c.2583G>T (p.Trp861Cys) c.1800+297G>T (n.1800+297G>T) c.1527G>T (p.Trp509Cys) c.778G>T n.3609+6G>T n.2162G>T c.2673G>T (p.Trp891Cys) n.212-3232G>T c.2721G>T (p.Trp907Cys) c.2781G>T (p.Trp927Cys) c.2331G>T (p.Trp777Cys) c.633G>T (p.Trp211Cys) c.2730+297G>T (n.2730+297G>T) c.2403G>T (p.Trp801Cys) c.1485G>T (p.Trp495Cys) n.3036G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.51949710C= | CA2091541365 | ATP7B | c.*650G= (n.*650G=) c.*1561G= (n.*1561G=) c.2244+297G= (n.2244+297G=) c.2817G= (p.Trp939=) c.2484G= (p.Trp828=) c.2565G= (p.Trp855=) c.2583G= (p.Trp861=) c.1800+297G= (n.1800+297G=) c.1527G= (p.Trp509=) c.778G= n.3609+6G= n.2162G= c.2673G= (p.Trp891=) n.212-3232G= c.2721G= (p.Trp907=) c.2781G= (p.Trp927=) c.2331G= (p.Trp777=) c.633G= (p.Trp211=) c.2730+297G= (n.2730+297G=) c.2403G= (p.Trp801=) c.1485G= (p.Trp495=) n.3036G= | |
| 13 | g.51949710C>G | CA388033509 | ATP7B | c.*650G>C (n.*650G>C) c.*1561G>C (n.*1561G>C) c.2244+297G>C (n.2244+297G>C) c.2817G>C (p.Trp939Cys) c.2484G>C (p.Trp828Cys) c.2565G>C (p.Trp855Cys) c.2583G>C (p.Trp861Cys) c.1800+297G>C (n.1800+297G>C) c.1527G>C (p.Trp509Cys) c.778G>C n.3609+6G>C n.2162G>C c.2673G>C (p.Trp891Cys) n.212-3232G>C c.2721G>C (p.Trp907Cys) c.2781G>C (p.Trp927Cys) c.2331G>C (p.Trp777Cys) c.633G>C (p.Trp211Cys) c.2730+297G>C (n.2730+297G>C) c.2403G>C (p.Trp801Cys) c.1485G>C (p.Trp495Cys) n.3036G>C | ClinVar dbSNP |
| 13 | g.51949710C>T | CA388033512 | ATP7B | c.*650G>A (n.*650G>A) c.*1561G>A (n.*1561G>A) c.2244+297G>A (n.2244+297G>A) c.2817G>A (p.Trp939Ter) c.2484G>A (p.Trp828Ter) c.2565G>A (p.Trp855Ter) c.2583G>A (p.Trp861Ter) c.1800+297G>A (n.1800+297G>A) c.1527G>A (p.Trp509Ter) c.778G>A n.3609+6G>A n.2162G>A c.2673G>A (p.Trp891Ter) n.212-3232G>A c.2721G>A (p.Trp907Ter) c.2781G>A (p.Trp927Ter) c.2331G>A (p.Trp777Ter) c.633G>A (p.Trp211Ter) c.2730+297G>A (n.2730+297G>A) c.2403G>A (p.Trp801Ter) c.1485G>A (p.Trp495Ter) n.3036G>A | |
| 13 | g.51949711C>A | CA388033515 | ATP7B | c.*649G>T (n.*649G>T) c.*1560G>T (n.*1560G>T) c.2244+296G>T (n.2244+296G>T) c.2816G>T (p.Trp939Leu) c.2483G>T (p.Trp828Leu) c.2564G>T (p.Trp855Leu) c.2582G>T (p.Trp861Leu) c.1800+296G>T (n.1800+296G>T) c.1526G>T (p.Trp509Leu) c.777G>T n.3609+5G>T n.2161G>T c.2672G>T (p.Trp891Leu) n.212-3233G>T c.2720G>T (p.Trp907Leu) c.2780G>T (p.Trp927Leu) c.2330G>T (p.Trp777Leu) c.632G>T (p.Trp211Leu) c.2730+296G>T (n.2730+296G>T) c.2402G>T (p.Trp801Leu) c.1484G>T (p.Trp495Leu) n.3035G>T | dbSNP |
| 13 | g.51949711C= | CA2091541371 | ATP7B | c.*649G= (n.*649G=) c.*1560G= (n.*1560G=) c.2244+296G= (n.2244+296G=) c.2816G= (p.Trp939=) c.2483G= (p.Trp828=) c.2564G= (p.Trp855=) c.2582G= (p.Trp861=) c.1800+296G= (n.1800+296G=) c.1526G= (p.Trp509=) c.777G= n.3609+5G= n.2161G= c.2672G= (p.Trp891=) n.212-3233G= c.2720G= (p.Trp907=) c.2780G= (p.Trp927=) c.2330G= (p.Trp777=) c.632G= (p.Trp211=) c.2730+296G= (n.2730+296G=) c.2402G= (p.Trp801=) c.1484G= (p.Trp495=) n.3035G= | |
| 13 | g.51949711C>G | CA388033517 | ATP7B | c.*649G>C (n.*649G>C) c.*1560G>C (n.*1560G>C) c.2244+296G>C (n.2244+296G>C) c.2816G>C (p.Trp939Ser) c.2483G>C (p.Trp828Ser) c.2564G>C (p.Trp855Ser) c.2582G>C (p.Trp861Ser) c.1800+296G>C (n.1800+296G>C) c.1526G>C (p.Trp509Ser) c.777G>C n.3609+5G>C n.2161G>C c.2672G>C (p.Trp891Ser) n.212-3233G>C c.2720G>C (p.Trp907Ser) c.2780G>C (p.Trp927Ser) c.2330G>C (p.Trp777Ser) c.632G>C (p.Trp211Ser) c.2730+296G>C (n.2730+296G>C) c.2402G>C (p.Trp801Ser) c.1484G>C (p.Trp495Ser) n.3035G>C | |
| 13 | g.51949711C>T | CA388033520 | ATP7B | c.*649G>A (n.*649G>A) c.*1560G>A (n.*1560G>A) c.2244+296G>A (n.2244+296G>A) c.2816G>A (p.Trp939Ter) c.2483G>A (p.Trp828Ter) c.2564G>A (p.Trp855Ter) c.2582G>A (p.Trp861Ter) c.1800+296G>A (n.1800+296G>A) c.1526G>A (p.Trp509Ter) c.777G>A n.3609+5G>A n.2161G>A c.2672G>A (p.Trp891Ter) n.212-3233G>A c.2720G>A (p.Trp907Ter) c.2780G>A (p.Trp927Ter) c.2330G>A (p.Trp777Ter) c.632G>A (p.Trp211Ter) c.2730+296G>A (n.2730+296G>A) c.2402G>A (p.Trp801Ter) c.1484G>A (p.Trp495Ter) n.3035G>A | |
| 13 | g.51949711_51949712insT | CA2695218779 | ATP7B | c.*648_*649insA (n.*648_*649insA) c.*1559_*1560insA (n.*1559_*1560insA) c.2244+295_2244+296insA (n.2244+295_2244+296insA) c.2815_2816insA (p.Trp939Ter) c.2482_2483insA (p.Trp828Ter) c.2563_2564insA (p.Trp855Ter) c.2581_2582insA (p.Trp861Ter) c.1800+295_1800+296insA (n.1800+295_1800+296insA) c.1525_1526insA (p.Trp509Ter) c.776_777insA n.3609+4_3609+5insA n.2160_2161insA c.2671_2672insA (p.Trp891Ter) n.212-3234_212-3233insA c.2719_2720insA (p.Trp907Ter) c.2779_2780insA (p.Trp927Ter) c.2329_2330insA (p.Trp777Ter) c.631_632insA (p.Trp211Ter) c.2730+295_2730+296insA (n.2730+295_2730+296insA) c.2401_2402insA (p.Trp801Ter) c.1483_1484insA (p.Trp495Ter) n.3034_3035insA | |
| 13 | g.51949712A>C | CA388033523 | ATP7B | c.*648T>G (n.*648T>G) c.*1559T>G (n.*1559T>G) c.2244+295T>G (n.2244+295T>G) c.2815T>G (p.Trp939Gly) c.2482T>G (p.Trp828Gly) c.2563T>G (p.Trp855Gly) c.2581T>G (p.Trp861Gly) c.1800+295T>G (n.1800+295T>G) c.1525T>G (p.Trp509Gly) c.776T>G n.3609+4T>G n.2160T>G c.2671T>G (p.Trp891Gly) n.212-3234T>G c.2719T>G (p.Trp907Gly) c.2779T>G (p.Trp927Gly) c.2329T>G (p.Trp777Gly) c.631T>G (p.Trp211Gly) c.2730+295T>G (n.2730+295T>G) c.2401T>G (p.Trp801Gly) c.1483T>G (p.Trp495Gly) n.3034T>G | |
| 13 | g.51949712A>G | CA388033525 | ATP7B | c.*648T>C (n.*648T>C) c.*1559T>C (n.*1559T>C) c.2244+295T>C (n.2244+295T>C) c.2815T>C (p.Trp939Arg) c.2482T>C (p.Trp828Arg) c.2563T>C (p.Trp855Arg) c.2581T>C (p.Trp861Arg) c.1800+295T>C (n.1800+295T>C) c.1525T>C (p.Trp509Arg) c.776T>C n.3609+4T>C n.2160T>C c.2671T>C (p.Trp891Arg) n.212-3234T>C c.2719T>C (p.Trp907Arg) c.2779T>C (p.Trp927Arg) c.2329T>C (p.Trp777Arg) c.631T>C (p.Trp211Arg) c.2730+295T>C (n.2730+295T>C) c.2401T>C (p.Trp801Arg) c.1483T>C (p.Trp495Arg) n.3034T>C | gnomAD v4 |
| 13 | g.51949712A>T | CA388033527 | ATP7B | c.*648T>A (n.*648T>A) c.*1559T>A (n.*1559T>A) c.2244+295T>A (n.2244+295T>A) c.2815T>A (p.Trp939Arg) c.2482T>A (p.Trp828Arg) c.2563T>A (p.Trp855Arg) c.2581T>A (p.Trp861Arg) c.1800+295T>A (n.1800+295T>A) c.1525T>A (p.Trp509Arg) c.776T>A n.3609+4T>A n.2160T>A c.2671T>A (p.Trp891Arg) n.212-3234T>A c.2719T>A (p.Trp907Arg) c.2779T>A (p.Trp927Arg) c.2329T>A (p.Trp777Arg) c.631T>A (p.Trp211Arg) c.2730+295T>A (n.2730+295T>A) c.2401T>A (p.Trp801Arg) c.1483T>A (p.Trp495Arg) n.3034T>A | |
| 13 | g.51949713T>A | CA484024490 | ATP7B | c.*647A>T (n.*647A>T) c.*1558A>T (n.*1558A>T) c.2244+294A>T (n.2244+294A>T) c.2814A>T (p.Val938=) c.2481A>T (p.Val827=) c.2562A>T (p.Val854=) c.2580A>T (p.Val860=) c.1800+294A>T (n.1800+294A>T) c.1524A>T (p.Val508=) c.775A>T n.3609+3A>T n.2159A>T c.2670A>T (p.Val890=) n.212-3235A>T c.2718A>T (p.Val906=) c.2778A>T (p.Val926=) c.2328A>T (p.Val776=) c.630A>T (p.Val210=) c.2730+294A>T (n.2730+294A>T) c.2400A>T (p.Val800=) c.1482A>T (p.Val494=) n.3033A>T |