Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51946336_51946351delCA2695218763ATP7Bc.*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
13g.51946343C>ACA388032064ATP7Bc.*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
13g.51946343C>GCA388032068ATP7Bc.*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
13g.51946343C>TCA388032066ATP7Bc.*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
13g.51946344C>ACA483894900ATP7Bc.*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
13g.51946344C=CA2091566151ATP7Bc.*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=
13g.51946344C>GCA483894901ATP7Bc.*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
13g.51946344C>TCA483894902ATP7Bc.*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
13g.51946345C>ACA388032072ATP7Bc.*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
13g.51946345C=CA2091566152ATP7Bc.*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=
13g.51946345C>GCA388032074ATP7Bc.*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
13g.51946345C>TCA388032076ATP7Bc.*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
13g.51946346C>ACA388032079ATP7Bc.*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
13g.51946346C=CA2091566153ATP7Bc.*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=
13g.51946346C>GCA6988840ATP7Bc.*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
13g.51946346C>TCA6988839ATP7Bc.*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
13g.51946347G>ACA6988842ATP7Bc.*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
13g.51946347G>CCA6988841ATP7Bc.*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
13g.51946347G=CA2091566154ATP7Bc.*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=
13g.51946347G>TCA483894904ATP7Bc.*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
13g.51946348dupCA1139663304ATP7Bc.*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
13g.51946348G>ACA388032088ATP7Bc.*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
13g.51946348G>CCA388032091ATP7Bc.*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
13g.51946348G>TCA388032093ATP7Bc.*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
13g.51946349T>ACA388032096ATP7Bc.*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
13g.51946349T>CCA388032098ATP7Bc.*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
13g.51946349T>GCA388032099ATP7Bc.*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
13g.51946349T=CA2091566155ATP7Bc.*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=
13g.51946350G>ACA6988843ATP7Bc.*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
13g.51946350G>CCA483894906ATP7Bc.*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
13g.51946350G=CA2091566156ATP7Bc.*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=
13g.51946350G>TCA483894908ATP7Bc.*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
13g.51946351C>ACA388032104ATP7Bc.*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
13g.51946351C>GCA388032106ATP7Bc.*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
13g.51946351C>TCA388032107ATP7Bc.*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
13g.51946352C>ACA388032110ATP7Bc.*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
13g.51946352C>GCA388032114ATP7Bc.*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
13g.51946352C>TCA388032117ATP7Bc.*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
13g.51946353C>ACA483894911ATP7Bc.*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
13g.51946353C>GCA483894912ATP7Bc.*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
13g.51946353C>TCA483894910ATP7Bc.*824G>A (n.*824G>A)
c.*1735G>A (n.*1735G>A)
c.2370G>A (p.Val790=)
c.2991G>A (p.Val997=)
c.2658G>A (p.Val886=)
c.2739G>A (p.Val913=)
c.2757G>A (p.Val919=)
n.1138G>A
n.3354G>A
c.1926G>A (p.Val642=)
c.1701G>A (p.Val567=)
c.2866-2062G>A (n.2866-2062G>A)
n.211G>A
c.952G>A
c.*92G>A (n.*92G>A)
n.3735G>A
n.2336G>A
c.2847G>A (p.Val949=)
n.337G>A
c.2895G>A (p.Val965=)
c.2955G>A (p.Val985=)
c.2505G>A (p.Val835=)
c.807G>A (p.Val269=)
c.2856G>A (p.Val952=)
c.2577G>A (p.Val859=)
c.2730+3654G>A (n.2730+3654G>A)
c.1659G>A (p.Val553=)
n.3210G>A
13g.51946354A=CA2091566157ATP7Bc.*823T= (n.*823T=)
c.*1734T= (n.*1734T=)
c.2369T= (p.Val790=)
c.2990T= (p.Val997=)
c.2657T= (p.Val886=)
c.2738T= (p.Val913=)
c.2756T= (p.Val919=)
n.1137T=
n.3353T=
c.1925T= (p.Val642=)
c.1700T= (p.Val567=)
c.2866-2063T= (n.2866-2063T=)
n.210T=
c.951T=
c.*91T= (n.*91T=)
n.3734T=
n.2335T=
c.2846T= (p.Val949=)
n.336T=
c.2894T= (p.Val965=)
c.2954T= (p.Val985=)
c.2504T= (p.Val835=)
c.806T= (p.Val269=)
c.2855T= (p.Val952=)
c.2576T= (p.Val859=)
c.2730+3653T= (n.2730+3653T=)
c.1658T= (p.Val553=)
n.3209T=
13g.51946354A>CCA388032119ATP7Bc.*823T>G (n.*823T>G)
c.*1734T>G (n.*1734T>G)
c.2369T>G (p.Val790Gly)
c.2990T>G (p.Val997Gly)
c.2657T>G (p.Val886Gly)
c.2738T>G (p.Val913Gly)
c.2756T>G (p.Val919Gly)
n.1137T>G
n.3353T>G
c.1925T>G (p.Val642Gly)
c.1700T>G (p.Val567Gly)
c.2866-2063T>G (n.2866-2063T>G)
n.210T>G
c.951T>G
c.*91T>G (n.*91T>G)
n.3734T>G
n.2335T>G
c.2846T>G (p.Val949Gly)
n.336T>G
c.2894T>G (p.Val965Gly)
c.2954T>G (p.Val985Gly)
c.2504T>G (p.Val835Gly)
c.806T>G (p.Val269Gly)
c.2855T>G (p.Val952Gly)
c.2576T>G (p.Val859Gly)
c.2730+3653T>G (n.2730+3653T>G)
c.1658T>G (p.Val553Gly)
n.3209T>G
 dbSNP
13g.51946354A>GCA388032122ATP7Bc.*823T>C (n.*823T>C)
c.*1734T>C (n.*1734T>C)
c.2369T>C (p.Val790Ala)
c.2990T>C (p.Val997Ala)
c.2657T>C (p.Val886Ala)
c.2738T>C (p.Val913Ala)
c.2756T>C (p.Val919Ala)
n.1137T>C
n.3353T>C
c.1925T>C (p.Val642Ala)
c.1700T>C (p.Val567Ala)
c.2866-2063T>C (n.2866-2063T>C)
n.210T>C
c.951T>C
c.*91T>C (n.*91T>C)
n.3734T>C
n.2335T>C
c.2846T>C (p.Val949Ala)
n.336T>C
c.2894T>C (p.Val965Ala)
c.2954T>C (p.Val985Ala)
c.2504T>C (p.Val835Ala)
c.806T>C (p.Val269Ala)
c.2855T>C (p.Val952Ala)
c.2576T>C (p.Val859Ala)
c.2730+3653T>C (n.2730+3653T>C)
c.1658T>C (p.Val553Ala)
n.3209T>C
13g.51946354A>TCA388032124ATP7Bc.*823T>A (n.*823T>A)
c.*1734T>A (n.*1734T>A)
c.2369T>A (p.Val790Glu)
c.2990T>A (p.Val997Glu)
c.2657T>A (p.Val886Glu)
c.2738T>A (p.Val913Glu)
c.2756T>A (p.Val919Glu)
n.1137T>A
n.3353T>A
c.1925T>A (p.Val642Glu)
c.1700T>A (p.Val567Glu)
c.2866-2063T>A (n.2866-2063T>A)
n.210T>A
c.951T>A
c.*91T>A (n.*91T>A)
n.3734T>A
n.2335T>A
c.2846T>A (p.Val949Glu)
n.336T>A
c.2894T>A (p.Val965Glu)
c.2954T>A (p.Val985Glu)
c.2504T>A (p.Val835Glu)
c.806T>A (p.Val269Glu)
c.2855T>A (p.Val952Glu)
c.2576T>A (p.Val859Glu)
c.2730+3653T>A (n.2730+3653T>A)
c.1658T>A (p.Val553Glu)
n.3209T>A
13g.51946355C>ACA388032126ATP7Bc.*822G>T (n.*822G>T)
c.*1733G>T (n.*1733G>T)
c.2368G>T (p.Val790Leu)
c.2989G>T (p.Val997Leu)
c.2656G>T (p.Val886Leu)
c.2737G>T (p.Val913Leu)
c.2755G>T (p.Val919Leu)
n.1136G>T
n.3352G>T
c.1924G>T (p.Val642Leu)
c.1699G>T (p.Val567Leu)
c.2866-2064G>T (n.2866-2064G>T)
n.209G>T
c.950G>T
c.*90G>T (n.*90G>T)
n.3733G>T
n.2334G>T
c.2845G>T (p.Val949Leu)
n.335G>T
c.2893G>T (p.Val965Leu)
c.2953G>T (p.Val985Leu)
c.2503G>T (p.Val835Leu)
c.805G>T (p.Val269Leu)
c.2854G>T (p.Val952Leu)
c.2575G>T (p.Val859Leu)
c.2730+3652G>T (n.2730+3652G>T)
c.1657G>T (p.Val553Leu)
n.3208G>T
13g.51946355C=CA2091566158ATP7Bc.*822G= (n.*822G=)
c.*1733G= (n.*1733G=)
c.2368G= (p.Val790=)
c.2989G= (p.Val997=)
c.2656G= (p.Val886=)
c.2737G= (p.Val913=)
c.2755G= (p.Val919=)
n.1136G=
n.3352G=
c.1924G= (p.Val642=)
c.1699G= (p.Val567=)
c.2866-2064G= (n.2866-2064G=)
n.209G=
c.950G=
c.*90G= (n.*90G=)
n.3733G=
n.2334G=
c.2845G= (p.Val949=)
n.335G=
c.2893G= (p.Val965=)
c.2953G= (p.Val985=)
c.2503G= (p.Val835=)
c.805G= (p.Val269=)
c.2854G= (p.Val952=)
c.2575G= (p.Val859=)
c.2730+3652G= (n.2730+3652G=)
c.1657G= (p.Val553=)
n.3208G=
13g.51946355C>GCA388032130ATP7Bc.*822G>C (n.*822G>C)
c.*1733G>C (n.*1733G>C)
c.2368G>C (p.Val790Leu)
c.2989G>C (p.Val997Leu)
c.2656G>C (p.Val886Leu)
c.2737G>C (p.Val913Leu)
c.2755G>C (p.Val919Leu)
n.1136G>C
n.3352G>C
c.1924G>C (p.Val642Leu)
c.1699G>C (p.Val567Leu)
c.2866-2064G>C (n.2866-2064G>C)
n.209G>C
c.950G>C
c.*90G>C (n.*90G>C)
n.3733G>C
n.2334G>C
c.2845G>C (p.Val949Leu)
n.335G>C
c.2893G>C (p.Val965Leu)
c.2953G>C (p.Val985Leu)
c.2503G>C (p.Val835Leu)
c.805G>C (p.Val269Leu)
c.2854G>C (p.Val952Leu)
c.2575G>C (p.Val859Leu)
c.2730+3652G>C (n.2730+3652G>C)
c.1657G>C (p.Val553Leu)
n.3208G>C
 gnomAD v4
13g.51946355C>TCA388032133ATP7Bc.*822G>A (n.*822G>A)
c.*1733G>A (n.*1733G>A)
c.2368G>A (p.Val790Met)
c.2989G>A (p.Val997Met)
c.2656G>A (p.Val886Met)
c.2737G>A (p.Val913Met)
c.2755G>A (p.Val919Met)
n.1136G>A
n.3352G>A
c.1924G>A (p.Val642Met)
c.1699G>A (p.Val567Met)
c.2866-2064G>A (n.2866-2064G>A)
n.209G>A
c.950G>A
c.*90G>A (n.*90G>A)
n.3733G>A
n.2334G>A
c.2845G>A (p.Val949Met)
n.335G>A
c.2893G>A (p.Val965Met)
c.2953G>A (p.Val985Met)
c.2503G>A (p.Val835Met)
c.805G>A (p.Val269Met)
c.2854G>A (p.Val952Met)
c.2575G>A (p.Val859Met)
c.2730+3652G>A (n.2730+3652G>A)
c.1657G>A (p.Val553Met)
n.3208G>A
 ClinVar dbSNP gnomAD v4
13g.51946356C>ACA6988844ATP7Bc.*821G>T (n.*821G>T)
c.*1732G>T (n.*1732G>T)
c.2367G>T (p.Met789Ile)
c.2988G>T (p.Met996Ile)
c.2655G>T (p.Met885Ile)
c.2736G>T (p.Met912Ile)
c.2754G>T (p.Met918Ile)
n.1135G>T
n.3351G>T
c.1923G>T (p.Met641Ile)
c.1698G>T (p.Met566Ile)
c.2866-2065G>T (n.2866-2065G>T)
n.208G>T
c.949G>T
c.*89G>T (n.*89G>T)
n.3732G>T
n.2333G>T
c.2844G>T (p.Met948Ile)
n.334G>T
c.2892G>T (p.Met964Ile)
c.2952G>T (p.Met984Ile)
c.2502G>T (p.Met834Ile)
c.804G>T (p.Met268Ile)
c.2853G>T (p.Met951Ile)
c.2574G>T (p.Met858Ile)
c.2730+3651G>T (n.2730+3651G>T)
c.1656G>T (p.Met552Ile)
n.3207G>T
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched