Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.51946336_51946351del | CA2695218763 | ATP7B | c.*829_*844del (n.*829_*844del) c.*1740_*1755del (n.*1740_*1755del) c.2375_2390del (p.Thr792ArgfsTer18) c.2996_3011del (p.Thr999ArgfsTer18) c.2663_2678del (p.Thr888ArgfsTer18) c.2744_2759del (p.Thr915ArgfsTer18) c.2762_2777del (p.Thr921ArgfsTer18) n.1143_1158del n.3359_3374del c.1931_1946del (p.Thr644ArgfsTer18) c.1706_1721del (p.Thr569ArgfsTer18) c.2866-2057_2866-2042del (n.2866-2057_2866-2042del) n.216_231del c.957_972del c.*97_*112del (n.*97_*112del) n.3740_3755del n.2341_2356del c.2852_2867del (p.Thr951ArgfsTer18) n.342_357del c.2900_2915del (p.Thr967ArgfsTer18) c.2960_2975del (p.Thr987ArgfsTer18) c.2510_2525del (p.Thr837ArgfsTer18) c.812_827del (p.Thr271ArgfsTer18) c.812_827del (p.Thr271ArgfsTer?) c.2861_2876del (p.Thr954ArgfsTer18) c.2996_3011del (p.Thr999ArgfsTer?) c.2582_2597del (p.Thr861ArgfsTer18) c.2730+3659_2730+3674del (n.2730+3659_2730+3674del) c.1664_1679del (p.Thr555ArgfsTer18) n.3215_3230del | |
13 | g.51946340C>A | CA388032041 | ATP7B | c.*837G>T (n.*837G>T) c.*1748G>T (n.*1748G>T) c.2383G>T (p.Ala795Ser) c.3004G>T (p.Ala1002Ser) c.2671G>T (p.Ala891Ser) c.2752G>T (p.Ala918Ser) c.2770G>T (p.Ala924Ser) n.1151G>T n.3367G>T c.1939G>T (p.Ala647Ser) c.1714G>T (p.Ala572Ser) c.2866-2049G>T (n.2866-2049G>T) n.224G>T c.965G>T c.*105G>T (n.*105G>T) n.3748G>T n.2349G>T c.2860G>T (p.Ala954Ser) n.350G>T c.2908G>T (p.Ala970Ser) c.2968G>T (p.Ala990Ser) c.2518G>T (p.Ala840Ser) c.820G>T (p.Ala274Ser) c.2869G>T (p.Ala957Ser) c.2590G>T (p.Ala864Ser) c.2730+3667G>T (n.2730+3667G>T) c.1672G>T (p.Ala558Ser) n.3223G>T | |
13 | g.51946340C>G | CA388032044 | ATP7B | c.*837G>C (n.*837G>C) c.*1748G>C (n.*1748G>C) c.2383G>C (p.Ala795Pro) c.3004G>C (p.Ala1002Pro) c.2671G>C (p.Ala891Pro) c.2752G>C (p.Ala918Pro) c.2770G>C (p.Ala924Pro) n.1151G>C n.3367G>C c.1939G>C (p.Ala647Pro) c.1714G>C (p.Ala572Pro) c.2866-2049G>C (n.2866-2049G>C) n.224G>C c.965G>C c.*105G>C (n.*105G>C) n.3748G>C n.2349G>C c.2860G>C (p.Ala954Pro) n.350G>C c.2908G>C (p.Ala970Pro) c.2968G>C (p.Ala990Pro) c.2518G>C (p.Ala840Pro) c.820G>C (p.Ala274Pro) c.2869G>C (p.Ala957Pro) c.2590G>C (p.Ala864Pro) c.2730+3667G>C (n.2730+3667G>C) c.1672G>C (p.Ala558Pro) n.3223G>C | |
13 | g.51946340C>T | CA388032046 | ATP7B | c.*837G>A (n.*837G>A) c.*1748G>A (n.*1748G>A) c.2383G>A (p.Ala795Thr) c.3004G>A (p.Ala1002Thr) c.2671G>A (p.Ala891Thr) c.2752G>A (p.Ala918Thr) c.2770G>A (p.Ala924Thr) n.1151G>A n.3367G>A c.1939G>A (p.Ala647Thr) c.1714G>A (p.Ala572Thr) c.2866-2049G>A (n.2866-2049G>A) n.224G>A c.965G>A c.*105G>A (n.*105G>A) n.3748G>A n.2349G>A c.2860G>A (p.Ala954Thr) n.350G>A c.2908G>A (p.Ala970Thr) c.2968G>A (p.Ala990Thr) c.2518G>A (p.Ala840Thr) c.820G>A (p.Ala274Thr) c.2869G>A (p.Ala957Thr) c.2590G>A (p.Ala864Thr) c.2730+3667G>A (n.2730+3667G>A) c.1672G>A (p.Ala558Thr) n.3223G>A | |
13 | g.51946341C>A | CA483894896 | ATP7B | c.*836G>T (n.*836G>T) c.*1747G>T (n.*1747G>T) c.2382G>T (p.Val794=) c.3003G>T (p.Val1001=) c.2670G>T (p.Val890=) c.2751G>T (p.Val917=) c.2769G>T (p.Val923=) n.1150G>T n.3366G>T c.1938G>T (p.Val646=) c.1713G>T (p.Val571=) c.2866-2050G>T (n.2866-2050G>T) n.223G>T c.964G>T c.*104G>T (n.*104G>T) n.3747G>T n.2348G>T c.2859G>T (p.Val953=) n.349G>T c.2907G>T (p.Val969=) c.2967G>T (p.Val989=) c.2517G>T (p.Val839=) c.819G>T (p.Val273=) c.2868G>T (p.Val956=) c.2589G>T (p.Val863=) c.2730+3666G>T (n.2730+3666G>T) c.1671G>T (p.Val557=) n.3222G>T | |
13 | g.51946341C>G | CA483894897 | ATP7B | c.*836G>C (n.*836G>C) c.*1747G>C (n.*1747G>C) c.2382G>C (p.Val794=) c.3003G>C (p.Val1001=) c.2670G>C (p.Val890=) c.2751G>C (p.Val917=) c.2769G>C (p.Val923=) n.1150G>C n.3366G>C c.1938G>C (p.Val646=) c.1713G>C (p.Val571=) c.2866-2050G>C (n.2866-2050G>C) n.223G>C c.964G>C c.*104G>C (n.*104G>C) n.3747G>C n.2348G>C c.2859G>C (p.Val953=) n.349G>C c.2907G>C (p.Val969=) c.2967G>C (p.Val989=) c.2517G>C (p.Val839=) c.819G>C (p.Val273=) c.2868G>C (p.Val956=) c.2589G>C (p.Val863=) c.2730+3666G>C (n.2730+3666G>C) c.1671G>C (p.Val557=) n.3222G>C | |
13 | g.51946341C>T | CA483894898 | ATP7B | c.*836G>A (n.*836G>A) c.*1747G>A (n.*1747G>A) c.2382G>A (p.Val794=) c.3003G>A (p.Val1001=) c.2670G>A (p.Val890=) c.2751G>A (p.Val917=) c.2769G>A (p.Val923=) n.1150G>A n.3366G>A c.1938G>A (p.Val646=) c.1713G>A (p.Val571=) c.2866-2050G>A (n.2866-2050G>A) n.223G>A c.964G>A c.*104G>A (n.*104G>A) n.3747G>A n.2348G>A c.2859G>A (p.Val953=) n.349G>A c.2907G>A (p.Val969=) c.2967G>A (p.Val989=) c.2517G>A (p.Val839=) c.819G>A (p.Val273=) c.2868G>A (p.Val956=) c.2589G>A (p.Val863=) c.2730+3666G>A (n.2730+3666G>A) c.1671G>A (p.Val557=) n.3222G>A | |
13 | g.51946342A= | CA2091566150 | ATP7B | c.*835T= (n.*835T=) c.*1746T= (n.*1746T=) c.2381T= (p.Val794=) c.3002T= (p.Val1001=) c.2669T= (p.Val890=) c.2750T= (p.Val917=) c.2768T= (p.Val923=) n.1149T= n.3365T= c.1937T= (p.Val646=) c.1712T= (p.Val571=) c.2866-2051T= (n.2866-2051T=) n.222T= c.963T= c.*103T= (n.*103T=) n.3746T= n.2347T= c.2858T= (p.Val953=) n.348T= c.2906T= (p.Val969=) c.2966T= (p.Val989=) c.2516T= (p.Val839=) c.818T= (p.Val273=) c.2867T= (p.Val956=) c.2588T= (p.Val863=) c.2730+3665T= (n.2730+3665T=) c.1670T= (p.Val557=) n.3221T= | |
13 | g.51946342A>C | CA388032049 | ATP7B | c.*835T>G (n.*835T>G) c.*1746T>G (n.*1746T>G) c.2381T>G (p.Val794Gly) c.3002T>G (p.Val1001Gly) c.2669T>G (p.Val890Gly) c.2750T>G (p.Val917Gly) c.2768T>G (p.Val923Gly) n.1149T>G n.3365T>G c.1937T>G (p.Val646Gly) c.1712T>G (p.Val571Gly) c.2866-2051T>G (n.2866-2051T>G) n.222T>G c.963T>G c.*103T>G (n.*103T>G) n.3746T>G n.2347T>G c.2858T>G (p.Val953Gly) n.348T>G c.2906T>G (p.Val969Gly) c.2966T>G (p.Val989Gly) c.2516T>G (p.Val839Gly) c.818T>G (p.Val273Gly) c.2867T>G (p.Val956Gly) c.2588T>G (p.Val863Gly) c.2730+3665T>G (n.2730+3665T>G) c.1670T>G (p.Val557Gly) n.3221T>G | ClinVar dbSNP |
13 | g.51946342A>G | CA388032052 | ATP7B | c.*835T>C (n.*835T>C) c.*1746T>C (n.*1746T>C) c.2381T>C (p.Val794Ala) c.3002T>C (p.Val1001Ala) c.2669T>C (p.Val890Ala) c.2750T>C (p.Val917Ala) c.2768T>C (p.Val923Ala) n.1149T>C n.3365T>C c.1937T>C (p.Val646Ala) c.1712T>C (p.Val571Ala) c.2866-2051T>C (n.2866-2051T>C) n.222T>C c.963T>C c.*103T>C (n.*103T>C) n.3746T>C n.2347T>C c.2858T>C (p.Val953Ala) n.348T>C c.2906T>C (p.Val969Ala) c.2966T>C (p.Val989Ala) c.2516T>C (p.Val839Ala) c.818T>C (p.Val273Ala) c.2867T>C (p.Val956Ala) c.2588T>C (p.Val863Ala) c.2730+3665T>C (n.2730+3665T>C) c.1670T>C (p.Val557Ala) n.3221T>C | |
13 | g.51946342A>T | CA388032061 | ATP7B | c.*835T>A (n.*835T>A) c.*1746T>A (n.*1746T>A) c.2381T>A (p.Val794Glu) c.3002T>A (p.Val1001Glu) c.2669T>A (p.Val890Glu) c.2750T>A (p.Val917Glu) c.2768T>A (p.Val923Glu) n.1149T>A n.3365T>A c.1937T>A (p.Val646Glu) c.1712T>A (p.Val571Glu) c.2866-2051T>A (n.2866-2051T>A) n.222T>A c.963T>A c.*103T>A (n.*103T>A) n.3746T>A n.2347T>A c.2858T>A (p.Val953Glu) n.348T>A c.2906T>A (p.Val969Glu) c.2966T>A (p.Val989Glu) c.2516T>A (p.Val839Glu) c.818T>A (p.Val273Glu) c.2867T>A (p.Val956Glu) c.2588T>A (p.Val863Glu) c.2730+3665T>A (n.2730+3665T>A) c.1670T>A (p.Val557Glu) n.3221T>A | |
13 | g.51946343C>A | CA388032064 | ATP7B | c.*834G>T (n.*834G>T) c.*1745G>T (n.*1745G>T) c.2380G>T (p.Val794Leu) c.3001G>T (p.Val1001Leu) c.2668G>T (p.Val890Leu) c.2749G>T (p.Val917Leu) c.2767G>T (p.Val923Leu) n.1148G>T n.3364G>T c.1936G>T (p.Val646Leu) c.1711G>T (p.Val571Leu) c.2866-2052G>T (n.2866-2052G>T) n.221G>T c.962G>T c.*102G>T (n.*102G>T) n.3745G>T n.2346G>T c.2857G>T (p.Val953Leu) n.347G>T c.2905G>T (p.Val969Leu) c.2965G>T (p.Val989Leu) c.2515G>T (p.Val839Leu) c.817G>T (p.Val273Leu) c.2866G>T (p.Val956Leu) c.2587G>T (p.Val863Leu) c.2730+3664G>T (n.2730+3664G>T) c.1669G>T (p.Val557Leu) n.3220G>T | gnomAD v4 |
13 | g.51946343C>G | CA388032068 | ATP7B | c.*834G>C (n.*834G>C) c.*1745G>C (n.*1745G>C) c.2380G>C (p.Val794Leu) c.3001G>C (p.Val1001Leu) c.2668G>C (p.Val890Leu) c.2749G>C (p.Val917Leu) c.2767G>C (p.Val923Leu) n.1148G>C n.3364G>C c.1936G>C (p.Val646Leu) c.1711G>C (p.Val571Leu) c.2866-2052G>C (n.2866-2052G>C) n.221G>C c.962G>C c.*102G>C (n.*102G>C) n.3745G>C n.2346G>C c.2857G>C (p.Val953Leu) n.347G>C c.2905G>C (p.Val969Leu) c.2965G>C (p.Val989Leu) c.2515G>C (p.Val839Leu) c.817G>C (p.Val273Leu) c.2866G>C (p.Val956Leu) c.2587G>C (p.Val863Leu) c.2730+3664G>C (n.2730+3664G>C) c.1669G>C (p.Val557Leu) n.3220G>C | gnomAD v4 |
13 | g.51946343C>T | CA388032066 | ATP7B | c.*834G>A (n.*834G>A) c.*1745G>A (n.*1745G>A) c.2380G>A (p.Val794Met) c.3001G>A (p.Val1001Met) c.2668G>A (p.Val890Met) c.2749G>A (p.Val917Met) c.2767G>A (p.Val923Met) n.1148G>A n.3364G>A c.1936G>A (p.Val646Met) c.1711G>A (p.Val571Met) c.2866-2052G>A (n.2866-2052G>A) n.221G>A c.962G>A c.*102G>A (n.*102G>A) n.3745G>A n.2346G>A c.2857G>A (p.Val953Met) n.347G>A c.2905G>A (p.Val969Met) c.2965G>A (p.Val989Met) c.2515G>A (p.Val839Met) c.817G>A (p.Val273Met) c.2866G>A (p.Val956Met) c.2587G>A (p.Val863Met) c.2730+3664G>A (n.2730+3664G>A) c.1669G>A (p.Val557Met) n.3220G>A | gnomAD v4 |
13 | g.51946344C>A | CA483894900 | ATP7B | c.*833G>T (n.*833G>T) c.*1744G>T (n.*1744G>T) c.2379G>T (p.Gly793=) c.3000G>T (p.Gly1000=) c.2667G>T (p.Gly889=) c.2748G>T (p.Gly916=) c.2766G>T (p.Gly922=) n.1147G>T n.3363G>T c.1935G>T (p.Gly645=) c.1710G>T (p.Gly570=) c.2866-2053G>T (n.2866-2053G>T) n.220G>T c.961G>T c.*101G>T (n.*101G>T) n.3744G>T n.2345G>T c.2856G>T (p.Gly952=) n.346G>T c.2904G>T (p.Gly968=) c.2964G>T (p.Gly988=) c.2514G>T (p.Gly838=) c.816G>T (p.Gly272=) c.2865G>T (p.Gly955=) c.2586G>T (p.Gly862=) c.2730+3663G>T (n.2730+3663G>T) c.1668G>T (p.Gly556=) n.3219G>T | |
13 | g.51946344C= | CA2091566151 | ATP7B | c.*833G= (n.*833G=) c.*1744G= (n.*1744G=) c.2379G= (p.Gly793=) c.3000G= (p.Gly1000=) c.2667G= (p.Gly889=) c.2748G= (p.Gly916=) c.2766G= (p.Gly922=) n.1147G= n.3363G= c.1935G= (p.Gly645=) c.1710G= (p.Gly570=) c.2866-2053G= (n.2866-2053G=) n.220G= c.961G= c.*101G= (n.*101G=) n.3744G= n.2345G= c.2856G= (p.Gly952=) n.346G= c.2904G= (p.Gly968=) c.2964G= (p.Gly988=) c.2514G= (p.Gly838=) c.816G= (p.Gly272=) c.2865G= (p.Gly955=) c.2586G= (p.Gly862=) c.2730+3663G= (n.2730+3663G=) c.1668G= (p.Gly556=) n.3219G= | |
13 | g.51946344C>G | CA483894901 | ATP7B | c.*833G>C (n.*833G>C) c.*1744G>C (n.*1744G>C) c.2379G>C (p.Gly793=) c.3000G>C (p.Gly1000=) c.2667G>C (p.Gly889=) c.2748G>C (p.Gly916=) c.2766G>C (p.Gly922=) n.1147G>C n.3363G>C c.1935G>C (p.Gly645=) c.1710G>C (p.Gly570=) c.2866-2053G>C (n.2866-2053G>C) n.220G>C c.961G>C c.*101G>C (n.*101G>C) n.3744G>C n.2345G>C c.2856G>C (p.Gly952=) n.346G>C c.2904G>C (p.Gly968=) c.2964G>C (p.Gly988=) c.2514G>C (p.Gly838=) c.816G>C (p.Gly272=) c.2865G>C (p.Gly955=) c.2586G>C (p.Gly862=) c.2730+3663G>C (n.2730+3663G>C) c.1668G>C (p.Gly556=) n.3219G>C | gnomAD v4 |
13 | g.51946344C>T | CA483894902 | ATP7B | c.*833G>A (n.*833G>A) c.*1744G>A (n.*1744G>A) c.2379G>A (p.Gly793=) c.3000G>A (p.Gly1000=) c.2667G>A (p.Gly889=) c.2748G>A (p.Gly916=) c.2766G>A (p.Gly922=) n.1147G>A n.3363G>A c.1935G>A (p.Gly645=) c.1710G>A (p.Gly570=) c.2866-2053G>A (n.2866-2053G>A) n.220G>A c.961G>A c.*101G>A (n.*101G>A) n.3744G>A n.2345G>A c.2856G>A (p.Gly952=) n.346G>A c.2904G>A (p.Gly968=) c.2964G>A (p.Gly988=) c.2514G>A (p.Gly838=) c.816G>A (p.Gly272=) c.2865G>A (p.Gly955=) c.2586G>A (p.Gly862=) c.2730+3663G>A (n.2730+3663G>A) c.1668G>A (p.Gly556=) n.3219G>A | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51946345C>A | CA388032072 | ATP7B | c.*832G>T (n.*832G>T) c.*1743G>T (n.*1743G>T) c.2378G>T (p.Gly793Val) c.2999G>T (p.Gly1000Val) c.2666G>T (p.Gly889Val) c.2747G>T (p.Gly916Val) c.2765G>T (p.Gly922Val) n.1146G>T n.3362G>T c.1934G>T (p.Gly645Val) c.1709G>T (p.Gly570Val) c.2866-2054G>T (n.2866-2054G>T) n.219G>T c.960G>T c.*100G>T (n.*100G>T) n.3743G>T n.2344G>T c.2855G>T (p.Gly952Val) n.345G>T c.2903G>T (p.Gly968Val) c.2963G>T (p.Gly988Val) c.2513G>T (p.Gly838Val) c.815G>T (p.Gly272Val) c.2864G>T (p.Gly955Val) c.2585G>T (p.Gly862Val) c.2730+3662G>T (n.2730+3662G>T) c.1667G>T (p.Gly556Val) n.3218G>T | ClinVar dbSNP gnomAD v4 |
13 | g.51946345C= | CA2091566152 | ATP7B | c.*832G= (n.*832G=) c.*1743G= (n.*1743G=) c.2378G= (p.Gly793=) c.2999G= (p.Gly1000=) c.2666G= (p.Gly889=) c.2747G= (p.Gly916=) c.2765G= (p.Gly922=) n.1146G= n.3362G= c.1934G= (p.Gly645=) c.1709G= (p.Gly570=) c.2866-2054G= (n.2866-2054G=) n.219G= c.960G= c.*100G= (n.*100G=) n.3743G= n.2344G= c.2855G= (p.Gly952=) n.345G= c.2903G= (p.Gly968=) c.2963G= (p.Gly988=) c.2513G= (p.Gly838=) c.815G= (p.Gly272=) c.2864G= (p.Gly955=) c.2585G= (p.Gly862=) c.2730+3662G= (n.2730+3662G=) c.1667G= (p.Gly556=) n.3218G= | |
13 | g.51946345C>G | CA388032074 | ATP7B | c.*832G>C (n.*832G>C) c.*1743G>C (n.*1743G>C) c.2378G>C (p.Gly793Ala) c.2999G>C (p.Gly1000Ala) c.2666G>C (p.Gly889Ala) c.2747G>C (p.Gly916Ala) c.2765G>C (p.Gly922Ala) n.1146G>C n.3362G>C c.1934G>C (p.Gly645Ala) c.1709G>C (p.Gly570Ala) c.2866-2054G>C (n.2866-2054G>C) n.219G>C c.960G>C c.*100G>C (n.*100G>C) n.3743G>C n.2344G>C c.2855G>C (p.Gly952Ala) n.345G>C c.2903G>C (p.Gly968Ala) c.2963G>C (p.Gly988Ala) c.2513G>C (p.Gly838Ala) c.815G>C (p.Gly272Ala) c.2864G>C (p.Gly955Ala) c.2585G>C (p.Gly862Ala) c.2730+3662G>C (n.2730+3662G>C) c.1667G>C (p.Gly556Ala) n.3218G>C | |
13 | g.51946345C>T | CA388032076 | ATP7B | c.*832G>A (n.*832G>A) c.*1743G>A (n.*1743G>A) c.2378G>A (p.Gly793Glu) c.2999G>A (p.Gly1000Glu) c.2666G>A (p.Gly889Glu) c.2747G>A (p.Gly916Glu) c.2765G>A (p.Gly922Glu) n.1146G>A n.3362G>A c.1934G>A (p.Gly645Glu) c.1709G>A (p.Gly570Glu) c.2866-2054G>A (n.2866-2054G>A) n.219G>A c.960G>A c.*100G>A (n.*100G>A) n.3743G>A n.2344G>A c.2855G>A (p.Gly952Glu) n.345G>A c.2903G>A (p.Gly968Glu) c.2963G>A (p.Gly988Glu) c.2513G>A (p.Gly838Glu) c.815G>A (p.Gly272Glu) c.2864G>A (p.Gly955Glu) c.2585G>A (p.Gly862Glu) c.2730+3662G>A (n.2730+3662G>A) c.1667G>A (p.Gly556Glu) n.3218G>A | gnomAD v4 |
13 | g.51946346C>A | CA388032079 | ATP7B | c.*831G>T (n.*831G>T) c.*1742G>T (n.*1742G>T) c.2377G>T (p.Gly793Trp) c.2998G>T (p.Gly1000Trp) c.2665G>T (p.Gly889Trp) c.2746G>T (p.Gly916Trp) c.2764G>T (p.Gly922Trp) n.1145G>T n.3361G>T c.1933G>T (p.Gly645Trp) c.1708G>T (p.Gly570Trp) c.2866-2055G>T (n.2866-2055G>T) n.218G>T c.959G>T c.*99G>T (n.*99G>T) n.3742G>T n.2343G>T c.2854G>T (p.Gly952Trp) n.344G>T c.2902G>T (p.Gly968Trp) c.2962G>T (p.Gly988Trp) c.2512G>T (p.Gly838Trp) c.814G>T (p.Gly272Trp) c.2863G>T (p.Gly955Trp) c.2584G>T (p.Gly862Trp) c.2730+3661G>T (n.2730+3661G>T) c.1666G>T (p.Gly556Trp) n.3217G>T | |
13 | g.51946346C= | CA2091566153 | ATP7B | c.*831G= (n.*831G=) c.*1742G= (n.*1742G=) c.2377G= (p.Gly793=) c.2998G= (p.Gly1000=) c.2665G= (p.Gly889=) c.2746G= (p.Gly916=) c.2764G= (p.Gly922=) n.1145G= n.3361G= c.1933G= (p.Gly645=) c.1708G= (p.Gly570=) c.2866-2055G= (n.2866-2055G=) n.218G= c.959G= c.*99G= (n.*99G=) n.3742G= n.2343G= c.2854G= (p.Gly952=) n.344G= c.2902G= (p.Gly968=) c.2962G= (p.Gly988=) c.2512G= (p.Gly838=) c.814G= (p.Gly272=) c.2863G= (p.Gly955=) c.2584G= (p.Gly862=) c.2730+3661G= (n.2730+3661G=) c.1666G= (p.Gly556=) n.3217G= | |
13 | g.51946346C>G | CA6988840 | ATP7B | c.*831G>C (n.*831G>C) c.*1742G>C (n.*1742G>C) c.2377G>C (p.Gly793Arg) c.2998G>C (p.Gly1000Arg) c.2665G>C (p.Gly889Arg) c.2746G>C (p.Gly916Arg) c.2764G>C (p.Gly922Arg) n.1145G>C n.3361G>C c.1933G>C (p.Gly645Arg) c.1708G>C (p.Gly570Arg) c.2866-2055G>C (n.2866-2055G>C) n.218G>C c.959G>C c.*99G>C (n.*99G>C) n.3742G>C n.2343G>C c.2854G>C (p.Gly952Arg) n.344G>C c.2902G>C (p.Gly968Arg) c.2962G>C (p.Gly988Arg) c.2512G>C (p.Gly838Arg) c.814G>C (p.Gly272Arg) c.2863G>C (p.Gly955Arg) c.2584G>C (p.Gly862Arg) c.2730+3661G>C (n.2730+3661G>C) c.1666G>C (p.Gly556Arg) n.3217G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51946346C>T | CA6988839 | ATP7B | c.*831G>A (n.*831G>A) c.*1742G>A (n.*1742G>A) c.2377G>A (p.Gly793Arg) c.2998G>A (p.Gly1000Arg) c.2665G>A (p.Gly889Arg) c.2746G>A (p.Gly916Arg) c.2764G>A (p.Gly922Arg) n.1145G>A n.3361G>A c.1933G>A (p.Gly645Arg) c.1708G>A (p.Gly570Arg) c.2866-2055G>A (n.2866-2055G>A) n.218G>A c.959G>A c.*99G>A (n.*99G>A) n.3742G>A n.2343G>A c.2854G>A (p.Gly952Arg) n.344G>A c.2902G>A (p.Gly968Arg) c.2962G>A (p.Gly988Arg) c.2512G>A (p.Gly838Arg) c.814G>A (p.Gly272Arg) c.2863G>A (p.Gly955Arg) c.2584G>A (p.Gly862Arg) c.2730+3661G>A (n.2730+3661G>A) c.1666G>A (p.Gly556Arg) n.3217G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946347G>A | CA6988842 | ATP7B | c.*830C>T (n.*830C>T) c.*1741C>T (n.*1741C>T) c.2376C>T (p.Thr792=) c.2997C>T (p.Thr999=) c.2664C>T (p.Thr888=) c.2745C>T (p.Thr915=) c.2763C>T (p.Thr921=) n.1144C>T n.3360C>T c.1932C>T (p.Thr644=) c.1707C>T (p.Thr569=) c.2866-2056C>T (n.2866-2056C>T) n.217C>T c.958C>T c.*98C>T (n.*98C>T) n.3741C>T n.2342C>T c.2853C>T (p.Thr951=) n.343C>T c.2901C>T (p.Thr967=) c.2961C>T (p.Thr987=) c.2511C>T (p.Thr837=) c.813C>T (p.Thr271=) c.2862C>T (p.Thr954=) c.2583C>T (p.Thr861=) c.2730+3660C>T (n.2730+3660C>T) c.1665C>T (p.Thr555=) n.3216C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946347G>C | CA6988841 | ATP7B | c.*830C>G (n.*830C>G) c.*1741C>G (n.*1741C>G) c.2376C>G (p.Thr792=) c.2997C>G (p.Thr999=) c.2664C>G (p.Thr888=) c.2745C>G (p.Thr915=) c.2763C>G (p.Thr921=) n.1144C>G n.3360C>G c.1932C>G (p.Thr644=) c.1707C>G (p.Thr569=) c.2866-2056C>G (n.2866-2056C>G) n.217C>G c.958C>G c.*98C>G (n.*98C>G) n.3741C>G n.2342C>G c.2853C>G (p.Thr951=) n.343C>G c.2901C>G (p.Thr967=) c.2961C>G (p.Thr987=) c.2511C>G (p.Thr837=) c.813C>G (p.Thr271=) c.2862C>G (p.Thr954=) c.2583C>G (p.Thr861=) c.2730+3660C>G (n.2730+3660C>G) c.1665C>G (p.Thr555=) n.3216C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946347G= | CA2091566154 | ATP7B | c.*830C= (n.*830C=) c.*1741C= (n.*1741C=) c.2376C= (p.Thr792=) c.2997C= (p.Thr999=) c.2664C= (p.Thr888=) c.2745C= (p.Thr915=) c.2763C= (p.Thr921=) n.1144C= n.3360C= c.1932C= (p.Thr644=) c.1707C= (p.Thr569=) c.2866-2056C= (n.2866-2056C=) n.217C= c.958C= c.*98C= (n.*98C=) n.3741C= n.2342C= c.2853C= (p.Thr951=) n.343C= c.2901C= (p.Thr967=) c.2961C= (p.Thr987=) c.2511C= (p.Thr837=) c.813C= (p.Thr271=) c.2862C= (p.Thr954=) c.2583C= (p.Thr861=) c.2730+3660C= (n.2730+3660C=) c.1665C= (p.Thr555=) n.3216C= | |
13 | g.51946347G>T | CA483894904 | ATP7B | c.*830C>A (n.*830C>A) c.*1741C>A (n.*1741C>A) c.2376C>A (p.Thr792=) c.2997C>A (p.Thr999=) c.2664C>A (p.Thr888=) c.2745C>A (p.Thr915=) c.2763C>A (p.Thr921=) n.1144C>A n.3360C>A c.1932C>A (p.Thr644=) c.1707C>A (p.Thr569=) c.2866-2056C>A (n.2866-2056C>A) n.217C>A c.958C>A c.*98C>A (n.*98C>A) n.3741C>A n.2342C>A c.2853C>A (p.Thr951=) n.343C>A c.2901C>A (p.Thr967=) c.2961C>A (p.Thr987=) c.2511C>A (p.Thr837=) c.813C>A (p.Thr271=) c.2862C>A (p.Thr954=) c.2583C>A (p.Thr861=) c.2730+3660C>A (n.2730+3660C>A) c.1665C>A (p.Thr555=) n.3216C>A | |
13 | g.51946348dup | CA1139663304 | ATP7B | c.*830dup (n.*830dup) c.*1741dup (n.*1741dup) c.2376dup (p.Gly793ArgfsTer28) c.2997dup (p.Gly1000ArgfsTer28) c.2664dup (p.Gly889ArgfsTer28) c.2745dup (p.Gly916ArgfsTer28) c.2763dup (p.Gly922ArgfsTer28) n.1144dup n.3360dup c.1932dup (p.Gly645ArgfsTer28) c.1707dup (p.Gly570ArgfsTer28) c.2866-2056dup (n.2866-2056dup) n.217dup c.958dup c.*98dup (n.*98dup) n.3741dup n.2342dup c.2853dup (p.Gly952ArgfsTer28) n.343dup c.2901dup (p.Gly968ArgfsTer28) c.2961dup (p.Gly988ArgfsTer28) c.2511dup (p.Gly838ArgfsTer28) c.813dup (p.Gly272ArgfsTer28) c.813dup (p.Gly272ArgfsTer?) c.2862dup (p.Gly955ArgfsTer28) c.2997dup (p.Gly1000ArgfsTer?) c.2583dup (p.Gly862ArgfsTer28) c.2730+3660dup (n.2730+3660dup) c.1665dup (p.Gly556ArgfsTer28) n.3216dup | ClinVar dbSNP gnomAD v4 |
13 | g.51946348G>A | CA388032088 | ATP7B | c.*829C>T (n.*829C>T) c.*1740C>T (n.*1740C>T) c.2375C>T (p.Thr792Ile) c.2996C>T (p.Thr999Ile) c.2663C>T (p.Thr888Ile) c.2744C>T (p.Thr915Ile) c.2762C>T (p.Thr921Ile) n.1143C>T n.3359C>T c.1931C>T (p.Thr644Ile) c.1706C>T (p.Thr569Ile) c.2866-2057C>T (n.2866-2057C>T) n.216C>T c.957C>T c.*97C>T (n.*97C>T) n.3740C>T n.2341C>T c.2852C>T (p.Thr951Ile) n.342C>T c.2900C>T (p.Thr967Ile) c.2960C>T (p.Thr987Ile) c.2510C>T (p.Thr837Ile) c.812C>T (p.Thr271Ile) c.2861C>T (p.Thr954Ile) c.2582C>T (p.Thr861Ile) c.2730+3659C>T (n.2730+3659C>T) c.1664C>T (p.Thr555Ile) n.3215C>T | |
13 | g.51946348G>C | CA388032091 | ATP7B | c.*829C>G (n.*829C>G) c.*1740C>G (n.*1740C>G) c.2375C>G (p.Thr792Ser) c.2996C>G (p.Thr999Ser) c.2663C>G (p.Thr888Ser) c.2744C>G (p.Thr915Ser) c.2762C>G (p.Thr921Ser) n.1143C>G n.3359C>G c.1931C>G (p.Thr644Ser) c.1706C>G (p.Thr569Ser) c.2866-2057C>G (n.2866-2057C>G) n.216C>G c.957C>G c.*97C>G (n.*97C>G) n.3740C>G n.2341C>G c.2852C>G (p.Thr951Ser) n.342C>G c.2900C>G (p.Thr967Ser) c.2960C>G (p.Thr987Ser) c.2510C>G (p.Thr837Ser) c.812C>G (p.Thr271Ser) c.2861C>G (p.Thr954Ser) c.2582C>G (p.Thr861Ser) c.2730+3659C>G (n.2730+3659C>G) c.1664C>G (p.Thr555Ser) n.3215C>G | |
13 | g.51946348G>T | CA388032093 | ATP7B | c.*829C>A (n.*829C>A) c.*1740C>A (n.*1740C>A) c.2375C>A (p.Thr792Asn) c.2996C>A (p.Thr999Asn) c.2663C>A (p.Thr888Asn) c.2744C>A (p.Thr915Asn) c.2762C>A (p.Thr921Asn) n.1143C>A n.3359C>A c.1931C>A (p.Thr644Asn) c.1706C>A (p.Thr569Asn) c.2866-2057C>A (n.2866-2057C>A) n.216C>A c.957C>A c.*97C>A (n.*97C>A) n.3740C>A n.2341C>A c.2852C>A (p.Thr951Asn) n.342C>A c.2900C>A (p.Thr967Asn) c.2960C>A (p.Thr987Asn) c.2510C>A (p.Thr837Asn) c.812C>A (p.Thr271Asn) c.2861C>A (p.Thr954Asn) c.2582C>A (p.Thr861Asn) c.2730+3659C>A (n.2730+3659C>A) c.1664C>A (p.Thr555Asn) n.3215C>A | |
13 | g.51946349T>A | CA388032096 | ATP7B | c.*828A>T (n.*828A>T) c.*1739A>T (n.*1739A>T) c.2374A>T (p.Thr792Ser) c.2995A>T (p.Thr999Ser) c.2662A>T (p.Thr888Ser) c.2743A>T (p.Thr915Ser) c.2761A>T (p.Thr921Ser) n.1142A>T n.3358A>T c.1930A>T (p.Thr644Ser) c.1705A>T (p.Thr569Ser) c.2866-2058A>T (n.2866-2058A>T) n.215A>T c.956A>T c.*96A>T (n.*96A>T) n.3739A>T n.2340A>T c.2851A>T (p.Thr951Ser) n.341A>T c.2899A>T (p.Thr967Ser) c.2959A>T (p.Thr987Ser) c.2509A>T (p.Thr837Ser) c.811A>T (p.Thr271Ser) c.2860A>T (p.Thr954Ser) c.2581A>T (p.Thr861Ser) c.2730+3658A>T (n.2730+3658A>T) c.1663A>T (p.Thr555Ser) n.3214A>T | gnomAD v4 |
13 | g.51946349T>C | CA388032098 | ATP7B | c.*828A>G (n.*828A>G) c.*1739A>G (n.*1739A>G) c.2374A>G (p.Thr792Ala) c.2995A>G (p.Thr999Ala) c.2662A>G (p.Thr888Ala) c.2743A>G (p.Thr915Ala) c.2761A>G (p.Thr921Ala) n.1142A>G n.3358A>G c.1930A>G (p.Thr644Ala) c.1705A>G (p.Thr569Ala) c.2866-2058A>G (n.2866-2058A>G) n.215A>G c.956A>G c.*96A>G (n.*96A>G) n.3739A>G n.2340A>G c.2851A>G (p.Thr951Ala) n.341A>G c.2899A>G (p.Thr967Ala) c.2959A>G (p.Thr987Ala) c.2509A>G (p.Thr837Ala) c.811A>G (p.Thr271Ala) c.2860A>G (p.Thr954Ala) c.2581A>G (p.Thr861Ala) c.2730+3658A>G (n.2730+3658A>G) c.1663A>G (p.Thr555Ala) n.3214A>G | |
13 | g.51946349T>G | CA388032099 | ATP7B | c.*828A>C (n.*828A>C) c.*1739A>C (n.*1739A>C) c.2374A>C (p.Thr792Pro) c.2995A>C (p.Thr999Pro) c.2662A>C (p.Thr888Pro) c.2743A>C (p.Thr915Pro) c.2761A>C (p.Thr921Pro) n.1142A>C n.3358A>C c.1930A>C (p.Thr644Pro) c.1705A>C (p.Thr569Pro) c.2866-2058A>C (n.2866-2058A>C) n.215A>C c.956A>C c.*96A>C (n.*96A>C) n.3739A>C n.2340A>C c.2851A>C (p.Thr951Pro) n.341A>C c.2899A>C (p.Thr967Pro) c.2959A>C (p.Thr987Pro) c.2509A>C (p.Thr837Pro) c.811A>C (p.Thr271Pro) c.2860A>C (p.Thr954Pro) c.2581A>C (p.Thr861Pro) c.2730+3658A>C (n.2730+3658A>C) c.1663A>C (p.Thr555Pro) n.3214A>C | dbSNP |
13 | g.51946349T= | CA2091566155 | ATP7B | c.*828A= (n.*828A=) c.*1739A= (n.*1739A=) c.2374A= (p.Thr792=) c.2995A= (p.Thr999=) c.2662A= (p.Thr888=) c.2743A= (p.Thr915=) c.2761A= (p.Thr921=) n.1142A= n.3358A= c.1930A= (p.Thr644=) c.1705A= (p.Thr569=) c.2866-2058A= (n.2866-2058A=) n.215A= c.956A= c.*96A= (n.*96A=) n.3739A= n.2340A= c.2851A= (p.Thr951=) n.341A= c.2899A= (p.Thr967=) c.2959A= (p.Thr987=) c.2509A= (p.Thr837=) c.811A= (p.Thr271=) c.2860A= (p.Thr954=) c.2581A= (p.Thr861=) c.2730+3658A= (n.2730+3658A=) c.1663A= (p.Thr555=) n.3214A= | |
13 | g.51946350G>A | CA6988843 | ATP7B | c.*827C>T (n.*827C>T) c.*1738C>T (n.*1738C>T) c.2373C>T (p.Gly791=) c.2994C>T (p.Gly998=) c.2661C>T (p.Gly887=) c.2742C>T (p.Gly914=) c.2760C>T (p.Gly920=) n.1141C>T n.3357C>T c.1929C>T (p.Gly643=) c.1704C>T (p.Gly568=) c.2866-2059C>T (n.2866-2059C>T) n.214C>T c.955C>T c.*95C>T (n.*95C>T) n.3738C>T n.2339C>T c.2850C>T (p.Gly950=) n.340C>T c.2898C>T (p.Gly966=) c.2958C>T (p.Gly986=) c.2508C>T (p.Gly836=) c.810C>T (p.Gly270=) c.2859C>T (p.Gly953=) c.2580C>T (p.Gly860=) c.2730+3657C>T (n.2730+3657C>T) c.1662C>T (p.Gly554=) n.3213C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51946350G>C | CA483894906 | ATP7B | c.*827C>G (n.*827C>G) c.*1738C>G (n.*1738C>G) c.2373C>G (p.Gly791=) c.2994C>G (p.Gly998=) c.2661C>G (p.Gly887=) c.2742C>G (p.Gly914=) c.2760C>G (p.Gly920=) n.1141C>G n.3357C>G c.1929C>G (p.Gly643=) c.1704C>G (p.Gly568=) c.2866-2059C>G (n.2866-2059C>G) n.214C>G c.955C>G c.*95C>G (n.*95C>G) n.3738C>G n.2339C>G c.2850C>G (p.Gly950=) n.340C>G c.2898C>G (p.Gly966=) c.2958C>G (p.Gly986=) c.2508C>G (p.Gly836=) c.810C>G (p.Gly270=) c.2859C>G (p.Gly953=) c.2580C>G (p.Gly860=) c.2730+3657C>G (n.2730+3657C>G) c.1662C>G (p.Gly554=) n.3213C>G | |
13 | g.51946350G= | CA2091566156 | ATP7B | c.*827C= (n.*827C=) c.*1738C= (n.*1738C=) c.2373C= (p.Gly791=) c.2994C= (p.Gly998=) c.2661C= (p.Gly887=) c.2742C= (p.Gly914=) c.2760C= (p.Gly920=) n.1141C= n.3357C= c.1929C= (p.Gly643=) c.1704C= (p.Gly568=) c.2866-2059C= (n.2866-2059C=) n.214C= c.955C= c.*95C= (n.*95C=) n.3738C= n.2339C= c.2850C= (p.Gly950=) n.340C= c.2898C= (p.Gly966=) c.2958C= (p.Gly986=) c.2508C= (p.Gly836=) c.810C= (p.Gly270=) c.2859C= (p.Gly953=) c.2580C= (p.Gly860=) c.2730+3657C= (n.2730+3657C=) c.1662C= (p.Gly554=) n.3213C= | |
13 | g.51946350G>T | CA483894908 | ATP7B | c.*827C>A (n.*827C>A) c.*1738C>A (n.*1738C>A) c.2373C>A (p.Gly791=) c.2994C>A (p.Gly998=) c.2661C>A (p.Gly887=) c.2742C>A (p.Gly914=) c.2760C>A (p.Gly920=) n.1141C>A n.3357C>A c.1929C>A (p.Gly643=) c.1704C>A (p.Gly568=) c.2866-2059C>A (n.2866-2059C>A) n.214C>A c.955C>A c.*95C>A (n.*95C>A) n.3738C>A n.2339C>A c.2850C>A (p.Gly950=) n.340C>A c.2898C>A (p.Gly966=) c.2958C>A (p.Gly986=) c.2508C>A (p.Gly836=) c.810C>A (p.Gly270=) c.2859C>A (p.Gly953=) c.2580C>A (p.Gly860=) c.2730+3657C>A (n.2730+3657C>A) c.1662C>A (p.Gly554=) n.3213C>A | |
13 | g.51946351C>A | CA388032104 | ATP7B | c.*826G>T (n.*826G>T) c.*1737G>T (n.*1737G>T) c.2372G>T (p.Gly791Val) c.2993G>T (p.Gly998Val) c.2660G>T (p.Gly887Val) c.2741G>T (p.Gly914Val) c.2759G>T (p.Gly920Val) n.1140G>T n.3356G>T c.1928G>T (p.Gly643Val) c.1703G>T (p.Gly568Val) c.2866-2060G>T (n.2866-2060G>T) n.213G>T c.954G>T c.*94G>T (n.*94G>T) n.3737G>T n.2338G>T c.2849G>T (p.Gly950Val) n.339G>T c.2897G>T (p.Gly966Val) c.2957G>T (p.Gly986Val) c.2507G>T (p.Gly836Val) c.809G>T (p.Gly270Val) c.2858G>T (p.Gly953Val) c.2579G>T (p.Gly860Val) c.2730+3656G>T (n.2730+3656G>T) c.1661G>T (p.Gly554Val) n.3212G>T | gnomAD v4 |
13 | g.51946351C>G | CA388032106 | ATP7B | c.*826G>C (n.*826G>C) c.*1737G>C (n.*1737G>C) c.2372G>C (p.Gly791Ala) c.2993G>C (p.Gly998Ala) c.2660G>C (p.Gly887Ala) c.2741G>C (p.Gly914Ala) c.2759G>C (p.Gly920Ala) n.1140G>C n.3356G>C c.1928G>C (p.Gly643Ala) c.1703G>C (p.Gly568Ala) c.2866-2060G>C (n.2866-2060G>C) n.213G>C c.954G>C c.*94G>C (n.*94G>C) n.3737G>C n.2338G>C c.2849G>C (p.Gly950Ala) n.339G>C c.2897G>C (p.Gly966Ala) c.2957G>C (p.Gly986Ala) c.2507G>C (p.Gly836Ala) c.809G>C (p.Gly270Ala) c.2858G>C (p.Gly953Ala) c.2579G>C (p.Gly860Ala) c.2730+3656G>C (n.2730+3656G>C) c.1661G>C (p.Gly554Ala) n.3212G>C | gnomAD v4 |
13 | g.51946351C>T | CA388032107 | ATP7B | c.*826G>A (n.*826G>A) c.*1737G>A (n.*1737G>A) c.2372G>A (p.Gly791Asp) c.2993G>A (p.Gly998Asp) c.2660G>A (p.Gly887Asp) c.2741G>A (p.Gly914Asp) c.2759G>A (p.Gly920Asp) n.1140G>A n.3356G>A c.1928G>A (p.Gly643Asp) c.1703G>A (p.Gly568Asp) c.2866-2060G>A (n.2866-2060G>A) n.213G>A c.954G>A c.*94G>A (n.*94G>A) n.3737G>A n.2338G>A c.2849G>A (p.Gly950Asp) n.339G>A c.2897G>A (p.Gly966Asp) c.2957G>A (p.Gly986Asp) c.2507G>A (p.Gly836Asp) c.809G>A (p.Gly270Asp) c.2858G>A (p.Gly953Asp) c.2579G>A (p.Gly860Asp) c.2730+3656G>A (n.2730+3656G>A) c.1661G>A (p.Gly554Asp) n.3212G>A | |
13 | g.51946352C>A | CA388032110 | ATP7B | c.*825G>T (n.*825G>T) c.*1736G>T (n.*1736G>T) c.2371G>T (p.Gly791Cys) c.2992G>T (p.Gly998Cys) c.2659G>T (p.Gly887Cys) c.2740G>T (p.Gly914Cys) c.2758G>T (p.Gly920Cys) n.1139G>T n.3355G>T c.1927G>T (p.Gly643Cys) c.1702G>T (p.Gly568Cys) c.2866-2061G>T (n.2866-2061G>T) n.212G>T c.953G>T c.*93G>T (n.*93G>T) n.3736G>T n.2337G>T c.2848G>T (p.Gly950Cys) n.338G>T c.2896G>T (p.Gly966Cys) c.2956G>T (p.Gly986Cys) c.2506G>T (p.Gly836Cys) c.808G>T (p.Gly270Cys) c.2857G>T (p.Gly953Cys) c.2578G>T (p.Gly860Cys) c.2730+3655G>T (n.2730+3655G>T) c.1660G>T (p.Gly554Cys) n.3211G>T | |
13 | g.51946352C>G | CA388032114 | ATP7B | c.*825G>C (n.*825G>C) c.*1736G>C (n.*1736G>C) c.2371G>C (p.Gly791Arg) c.2992G>C (p.Gly998Arg) c.2659G>C (p.Gly887Arg) c.2740G>C (p.Gly914Arg) c.2758G>C (p.Gly920Arg) n.1139G>C n.3355G>C c.1927G>C (p.Gly643Arg) c.1702G>C (p.Gly568Arg) c.2866-2061G>C (n.2866-2061G>C) n.212G>C c.953G>C c.*93G>C (n.*93G>C) n.3736G>C n.2337G>C c.2848G>C (p.Gly950Arg) n.338G>C c.2896G>C (p.Gly966Arg) c.2956G>C (p.Gly986Arg) c.2506G>C (p.Gly836Arg) c.808G>C (p.Gly270Arg) c.2857G>C (p.Gly953Arg) c.2578G>C (p.Gly860Arg) c.2730+3655G>C (n.2730+3655G>C) c.1660G>C (p.Gly554Arg) n.3211G>C | |
13 | g.51946352C>T | CA388032117 | ATP7B | c.*825G>A (n.*825G>A) c.*1736G>A (n.*1736G>A) c.2371G>A (p.Gly791Ser) c.2992G>A (p.Gly998Ser) c.2659G>A (p.Gly887Ser) c.2740G>A (p.Gly914Ser) c.2758G>A (p.Gly920Ser) n.1139G>A n.3355G>A c.1927G>A (p.Gly643Ser) c.1702G>A (p.Gly568Ser) c.2866-2061G>A (n.2866-2061G>A) n.212G>A c.953G>A c.*93G>A (n.*93G>A) n.3736G>A n.2337G>A c.2848G>A (p.Gly950Ser) n.338G>A c.2896G>A (p.Gly966Ser) c.2956G>A (p.Gly986Ser) c.2506G>A (p.Gly836Ser) c.808G>A (p.Gly270Ser) c.2857G>A (p.Gly953Ser) c.2578G>A (p.Gly860Ser) c.2730+3655G>A (n.2730+3655G>A) c.1660G>A (p.Gly554Ser) n.3211G>A | gnomAD v4 |
13 | g.51946353C>A | CA483894911 | ATP7B | c.*824G>T (n.*824G>T) c.*1735G>T (n.*1735G>T) c.2370G>T (p.Val790=) c.2991G>T (p.Val997=) c.2658G>T (p.Val886=) c.2739G>T (p.Val913=) c.2757G>T (p.Val919=) n.1138G>T n.3354G>T c.1926G>T (p.Val642=) c.1701G>T (p.Val567=) c.2866-2062G>T (n.2866-2062G>T) n.211G>T c.952G>T c.*92G>T (n.*92G>T) n.3735G>T n.2336G>T c.2847G>T (p.Val949=) n.337G>T c.2895G>T (p.Val965=) c.2955G>T (p.Val985=) c.2505G>T (p.Val835=) c.807G>T (p.Val269=) c.2856G>T (p.Val952=) c.2577G>T (p.Val859=) c.2730+3654G>T (n.2730+3654G>T) c.1659G>T (p.Val553=) n.3210G>T | ClinVar |
13 | g.51946353C>G | CA483894912 | ATP7B | c.*824G>C (n.*824G>C) c.*1735G>C (n.*1735G>C) c.2370G>C (p.Val790=) c.2991G>C (p.Val997=) c.2658G>C (p.Val886=) c.2739G>C (p.Val913=) c.2757G>C (p.Val919=) n.1138G>C n.3354G>C c.1926G>C (p.Val642=) c.1701G>C (p.Val567=) c.2866-2062G>C (n.2866-2062G>C) n.211G>C c.952G>C c.*92G>C (n.*92G>C) n.3735G>C n.2336G>C c.2847G>C (p.Val949=) n.337G>C c.2895G>C (p.Val965=) c.2955G>C (p.Val985=) c.2505G>C (p.Val835=) c.807G>C (p.Val269=) c.2856G>C (p.Val952=) c.2577G>C (p.Val859=) c.2730+3654G>C (n.2730+3654G>C) c.1659G>C (p.Val553=) n.3210G>C |