Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51937483A>CCA388021372ATP7Bc.*1546T>G (n.*1546T>G)
c.*2640T>G (n.*2640T>G)
c.3275T>G (p.Leu1092Arg)
c.3896T>G (p.Leu1299Arg)
c.3563T>G (p.Leu1188Arg)
c.3644T>G (p.Leu1215Arg)
n.1137T>G
c.3662T>G (p.Leu1221Arg)
n.4035T>G
n.762T>G
c.2831T>G (p.Leu944Arg)
c.2606T>G (p.Leu869Arg)
c.3701T>G (p.Leu1234Arg)
c.1674T>G
c.*997T>G (n.*997T>G)
n.4640T>G
n.3241T>G
c.3752T>G (p.Leu1251Arg)
c.3800T>G (p.Leu1267Arg)
c.3860T>G (p.Leu1287Arg)
c.3410T>G (p.Leu1137Arg)
c.1712T>G (p.Leu571Arg)
c.1529T>G (p.Leu510Arg)
c.3761T>G (p.Leu1254Arg)
c.3713T>G (p.Leu1238Arg)
c.3482T>G (p.Leu1161Arg)
c.3383T>G (p.Leu1128Arg)
c.2564T>G (p.Leu855Arg)
n.4115T>G
13g.51937483A>GCA388021377ATP7Bc.*1546T>C (n.*1546T>C)
c.*2640T>C (n.*2640T>C)
c.3275T>C (p.Leu1092Pro)
c.3896T>C (p.Leu1299Pro)
c.3563T>C (p.Leu1188Pro)
c.3644T>C (p.Leu1215Pro)
n.1137T>C
c.3662T>C (p.Leu1221Pro)
n.4035T>C
n.762T>C
c.2831T>C (p.Leu944Pro)
c.2606T>C (p.Leu869Pro)
c.3701T>C (p.Leu1234Pro)
c.1674T>C
c.*997T>C (n.*997T>C)
n.4640T>C
n.3241T>C
c.3752T>C (p.Leu1251Pro)
c.3800T>C (p.Leu1267Pro)
c.3860T>C (p.Leu1287Pro)
c.3410T>C (p.Leu1137Pro)
c.1712T>C (p.Leu571Pro)
c.1529T>C (p.Leu510Pro)
c.3761T>C (p.Leu1254Pro)
c.3713T>C (p.Leu1238Pro)
c.3482T>C (p.Leu1161Pro)
c.3383T>C (p.Leu1128Pro)
c.2564T>C (p.Leu855Pro)
n.4115T>C
 ClinVar
13g.51937483A>TCA388021374ATP7Bc.*1546T>A (n.*1546T>A)
c.*2640T>A (n.*2640T>A)
c.3275T>A (p.Leu1092His)
c.3896T>A (p.Leu1299His)
c.3563T>A (p.Leu1188His)
c.3644T>A (p.Leu1215His)
n.1137T>A
c.3662T>A (p.Leu1221His)
n.4035T>A
n.762T>A
c.2831T>A (p.Leu944His)
c.2606T>A (p.Leu869His)
c.3701T>A (p.Leu1234His)
c.1674T>A
c.*997T>A (n.*997T>A)
n.4640T>A
n.3241T>A
c.3752T>A (p.Leu1251His)
c.3800T>A (p.Leu1267His)
c.3860T>A (p.Leu1287His)
c.3410T>A (p.Leu1137His)
c.1712T>A (p.Leu571His)
c.1529T>A (p.Leu510His)
c.3761T>A (p.Leu1254His)
c.3713T>A (p.Leu1238His)
c.3482T>A (p.Leu1161His)
c.3383T>A (p.Leu1128His)
c.2564T>A (p.Leu855His)
n.4115T>A
13g.51937483_51937484delinsAGCA2091553672ATP7Bc.*1545_*1546delinsCT (n.*1545_*1546delinsCT)
c.*2639_*2640delinsCT (n.*2639_*2640delinsCT)
c.3274_3275delinsCT (p.Leu1092=)
c.3895_3896delinsCT (p.Leu1299=)
c.3562_3563delinsCT (p.Leu1188=)
c.3643_3644delinsCT (p.Leu1215=)
n.1136_1137delinsCT
c.3661_3662delinsCT (p.Leu1221=)
n.4034_4035delinsCT
n.761_762delinsCT
c.2830_2831delinsCT (p.Leu944=)
c.2605_2606delinsCT (p.Leu869=)
c.3700_3701delinsCT (p.Leu1234=)
c.1673_1674delinsCT
c.*996_*997delinsCT (n.*996_*997delinsCT)
n.4639_4640delinsCT
n.3240_3241delinsCT
c.3751_3752delinsCT (p.Leu1251=)
c.3799_3800delinsCT (p.Leu1267=)
c.3859_3860delinsCT (p.Leu1287=)
c.3409_3410delinsCT (p.Leu1137=)
c.1711_1712delinsCT (p.Leu571=)
c.1528_1529delinsCT (p.Leu510=)
c.3760_3761delinsCT (p.Leu1254=)
c.3712_3713delinsCT (p.Leu1238=)
c.3481_3482delinsCT (p.Leu1161=)
c.3382_3383delinsCT (p.Leu1128=)
c.2563_2564delinsCT (p.Leu855=)
n.4114_4115delinsCT
13g.51937484G>ACA274423ATP7Bc.*1545C>T (n.*1545C>T)
c.*2639C>T (n.*2639C>T)
c.3274C>T (p.Leu1092Phe)
c.3895C>T (p.Leu1299Phe)
c.3562C>T (p.Leu1188Phe)
c.3643C>T (p.Leu1215Phe)
n.1136C>T
c.3661C>T (p.Leu1221Phe)
n.4034C>T
n.761C>T
c.2830C>T (p.Leu944Phe)
c.2605C>T (p.Leu869Phe)
c.3700C>T (p.Leu1234Phe)
c.1673C>T
c.*996C>T (n.*996C>T)
n.4639C>T
n.3240C>T
c.3751C>T (p.Leu1251Phe)
c.3799C>T (p.Leu1267Phe)
c.3859C>T (p.Leu1287Phe)
c.3409C>T (p.Leu1137Phe)
c.1711C>T (p.Leu571Phe)
c.1528C>T (p.Leu510Phe)
c.3760C>T (p.Leu1254Phe)
c.3712C>T (p.Leu1238Phe)
c.3481C>T (p.Leu1161Phe)
c.3382C>T (p.Leu1128Phe)
c.2563C>T (p.Leu855Phe)
n.4114C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51937484G>CCA388021381ATP7Bc.*1545C>G (n.*1545C>G)
c.*2639C>G (n.*2639C>G)
c.3274C>G (p.Leu1092Val)
c.3895C>G (p.Leu1299Val)
c.3562C>G (p.Leu1188Val)
c.3643C>G (p.Leu1215Val)
n.1136C>G
c.3661C>G (p.Leu1221Val)
n.4034C>G
n.761C>G
c.2830C>G (p.Leu944Val)
c.2605C>G (p.Leu869Val)
c.3700C>G (p.Leu1234Val)
c.1673C>G
c.*996C>G (n.*996C>G)
n.4639C>G
n.3240C>G
c.3751C>G (p.Leu1251Val)
c.3799C>G (p.Leu1267Val)
c.3859C>G (p.Leu1287Val)
c.3409C>G (p.Leu1137Val)
c.1711C>G (p.Leu571Val)
c.1528C>G (p.Leu510Val)
c.3760C>G (p.Leu1254Val)
c.3712C>G (p.Leu1238Val)
c.3481C>G (p.Leu1161Val)
c.3382C>G (p.Leu1128Val)
c.2563C>G (p.Leu855Val)
n.4114C>G
 dbSNP gnomAD v2 gnomAD v4
13g.51937484G=CA2091553679ATP7Bc.*1545C= (n.*1545C=)
c.*2639C= (n.*2639C=)
c.3274C= (p.Leu1092=)
c.3895C= (p.Leu1299=)
c.3562C= (p.Leu1188=)
c.3643C= (p.Leu1215=)
n.1136C=
c.3661C= (p.Leu1221=)
n.4034C=
n.761C=
c.2830C= (p.Leu944=)
c.2605C= (p.Leu869=)
c.3700C= (p.Leu1234=)
c.1673C=
c.*996C= (n.*996C=)
n.4639C=
n.3240C=
c.3751C= (p.Leu1251=)
c.3799C= (p.Leu1267=)
c.3859C= (p.Leu1287=)
c.3409C= (p.Leu1137=)
c.1711C= (p.Leu571=)
c.1528C= (p.Leu510=)
c.3760C= (p.Leu1254=)
c.3712C= (p.Leu1238=)
c.3481C= (p.Leu1161=)
c.3382C= (p.Leu1128=)
c.2563C= (p.Leu855=)
n.4114C=
13g.51937484G>TCA388021383ATP7Bc.*1545C>A (n.*1545C>A)
c.*2639C>A (n.*2639C>A)
c.3274C>A (p.Leu1092Ile)
c.3895C>A (p.Leu1299Ile)
c.3562C>A (p.Leu1188Ile)
c.3643C>A (p.Leu1215Ile)
n.1136C>A
c.3661C>A (p.Leu1221Ile)
n.4034C>A
n.761C>A
c.2830C>A (p.Leu944Ile)
c.2605C>A (p.Leu869Ile)
c.3700C>A (p.Leu1234Ile)
c.1673C>A
c.*996C>A (n.*996C>A)
n.4639C>A
n.3240C>A
c.3751C>A (p.Leu1251Ile)
c.3799C>A (p.Leu1267Ile)
c.3859C>A (p.Leu1287Ile)
c.3409C>A (p.Leu1137Ile)
c.1711C>A (p.Leu571Ile)
c.1528C>A (p.Leu510Ile)
c.3760C>A (p.Leu1254Ile)
c.3712C>A (p.Leu1238Ile)
c.3481C>A (p.Leu1161Ile)
c.3382C>A (p.Leu1128Ile)
c.2563C>A (p.Leu855Ile)
n.4114C>A
13g.51937485delCA1139663297ATP7Bc.*1545del (n.*1545del)
c.*2639del (n.*2639del)
c.3274del (p.Ile1093SerfsTer?)
c.3895del (p.Ile1300SerfsTer?)
c.3562del (p.Ile1189SerfsTer?)
c.3643del (p.Ile1216SerfsTer?)
n.1136del
c.3661del (p.Ile1222SerfsTer?)
n.4034del
n.761del
c.2830del (p.Ile945SerfsTer?)
c.2605del (p.Ile870SerfsTer?)
c.3700del (p.Ile1235SerfsTer?)
c.1673del
c.*996del (n.*996del)
n.4639del
n.3240del
c.3751del (p.Ile1252SerfsTer?)
c.3799del (p.Ile1268SerfsTer?)
c.3859del (p.Ile1288SerfsTer?)
c.3409del (p.Ile1138SerfsTer?)
c.1711del (p.Ile572SerfsTer?)
c.1528del (p.Ile511SerfsTer?)
c.3760del (p.Ile1255SerfsTer?)
c.3712del (p.Ile1239SerfsTer?)
c.3481del (p.Ile1162SerfsTer?)
c.3382del (p.Ile1129SerfsTer?)
c.2563del (p.Ile856SerfsTer?)
n.4114del
 ClinVar dbSNP
13g.51937485G>ACA6988548ATP7Bc.*1544C>T (n.*1544C>T)
c.*2638C>T (n.*2638C>T)
c.3273C>T (p.Val1091=)
c.3894C>T (p.Val1298=)
c.3561C>T (p.Val1187=)
c.3642C>T (p.Val1214=)
n.1135C>T
c.3660C>T (p.Val1220=)
n.4033C>T
n.760C>T
c.2829C>T (p.Val943=)
c.2604C>T (p.Val868=)
c.3699C>T (p.Val1233=)
c.1672C>T
c.*995C>T (n.*995C>T)
n.4638C>T
n.3239C>T
c.3750C>T (p.Val1250=)
c.3798C>T (p.Val1266=)
c.3858C>T (p.Val1286=)
c.3408C>T (p.Val1136=)
c.1710C>T (p.Val570=)
c.1527C>T (p.Val509=)
c.3759C>T (p.Val1253=)
c.3711C>T (p.Val1237=)
c.3480C>T (p.Val1160=)
c.3381C>T (p.Val1127=)
c.2562C>T (p.Val854=)
n.4113C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937485G>CCA484024274ATP7Bc.*1544C>G (n.*1544C>G)
c.*2638C>G (n.*2638C>G)
c.3273C>G (p.Val1091=)
c.3894C>G (p.Val1298=)
c.3561C>G (p.Val1187=)
c.3642C>G (p.Val1214=)
n.1135C>G
c.3660C>G (p.Val1220=)
n.4033C>G
n.760C>G
c.2829C>G (p.Val943=)
c.2604C>G (p.Val868=)
c.3699C>G (p.Val1233=)
c.1672C>G
c.*995C>G (n.*995C>G)
n.4638C>G
n.3239C>G
c.3750C>G (p.Val1250=)
c.3798C>G (p.Val1266=)
c.3858C>G (p.Val1286=)
c.3408C>G (p.Val1136=)
c.1710C>G (p.Val570=)
c.1527C>G (p.Val509=)
c.3759C>G (p.Val1253=)
c.3711C>G (p.Val1237=)
c.3480C>G (p.Val1160=)
c.3381C>G (p.Val1127=)
c.2562C>G (p.Val854=)
n.4113C>G
13g.51937485G=CA2091553685ATP7Bc.*1544C= (n.*1544C=)
c.*2638C= (n.*2638C=)
c.3273C= (p.Val1091=)
c.3894C= (p.Val1298=)
c.3561C= (p.Val1187=)
c.3642C= (p.Val1214=)
n.1135C=
c.3660C= (p.Val1220=)
n.4033C=
n.760C=
c.2829C= (p.Val943=)
c.2604C= (p.Val868=)
c.3699C= (p.Val1233=)
c.1672C=
c.*995C= (n.*995C=)
n.4638C=
n.3239C=
c.3750C= (p.Val1250=)
c.3798C= (p.Val1266=)
c.3858C= (p.Val1286=)
c.3408C= (p.Val1136=)
c.1710C= (p.Val570=)
c.1527C= (p.Val509=)
c.3759C= (p.Val1253=)
c.3711C= (p.Val1237=)
c.3480C= (p.Val1160=)
c.3381C= (p.Val1127=)
c.2562C= (p.Val854=)
n.4113C=
13g.51937485G>TCA484024275ATP7Bc.*1544C>A (n.*1544C>A)
c.*2638C>A (n.*2638C>A)
c.3273C>A (p.Val1091=)
c.3894C>A (p.Val1298=)
c.3561C>A (p.Val1187=)
c.3642C>A (p.Val1214=)
n.1135C>A
c.3660C>A (p.Val1220=)
n.4033C>A
n.760C>A
c.2829C>A (p.Val943=)
c.2604C>A (p.Val868=)
c.3699C>A (p.Val1233=)
c.1672C>A
c.*995C>A (n.*995C>A)
n.4638C>A
n.3239C>A
c.3750C>A (p.Val1250=)
c.3798C>A (p.Val1266=)
c.3858C>A (p.Val1286=)
c.3408C>A (p.Val1136=)
c.1710C>A (p.Val570=)
c.1527C>A (p.Val509=)
c.3759C>A (p.Val1253=)
c.3711C>A (p.Val1237=)
c.3480C>A (p.Val1160=)
c.3381C>A (p.Val1127=)
c.2562C>A (p.Val854=)
n.4113C>A
13g.51937489_51937491delCA2580614733ATP7Bc.*1542_*1544del (n.*1542_*1544del)
c.*2636_*2638del (n.*2636_*2638del)
c.3271_3273del (p.Val1091del)
c.3892_3894del (p.Val1298del)
c.3559_3561del (p.Val1187del)
c.3640_3642del (p.Val1214del)
n.1133_1135del
c.3658_3660del (p.Val1220del)
n.4031_4033del
n.758_760del
c.2827_2829del (p.Val943del)
c.2602_2604del (p.Val868del)
c.3697_3699del (p.Val1233del)
c.1670_1672del
c.*993_*995del (n.*993_*995del)
n.4636_4638del
n.3237_3239del
c.3748_3750del (p.Val1250del)
c.3796_3798del (p.Val1266del)
c.3856_3858del (p.Val1286del)
c.3406_3408del (p.Val1136del)
c.1708_1710del (p.Val570del)
c.1525_1527del (p.Val509del)
c.3757_3759del (p.Val1253del)
c.3709_3711del (p.Val1237del)
c.3478_3480del (p.Val1160del)
c.3379_3381del (p.Val1127del)
c.2560_2562del (p.Val854del)
n.4111_4113del
 ClinVar dbSNP gnomAD v4
13g.51937486A>CCA388021388ATP7Bc.*1543T>G (n.*1543T>G)
c.*2637T>G (n.*2637T>G)
c.3272T>G (p.Val1091Gly)
c.3893T>G (p.Val1298Gly)
c.3560T>G (p.Val1187Gly)
c.3641T>G (p.Val1214Gly)
n.1134T>G
c.3659T>G (p.Val1220Gly)
n.4032T>G
n.759T>G
c.2828T>G (p.Val943Gly)
c.2603T>G (p.Val868Gly)
c.3698T>G (p.Val1233Gly)
c.1671T>G
c.*994T>G (n.*994T>G)
n.4637T>G
n.3238T>G
c.3749T>G (p.Val1250Gly)
c.3797T>G (p.Val1266Gly)
c.3857T>G (p.Val1286Gly)
c.3407T>G (p.Val1136Gly)
c.1709T>G (p.Val570Gly)
c.1526T>G (p.Val509Gly)
c.3758T>G (p.Val1253Gly)
c.3710T>G (p.Val1237Gly)
c.3479T>G (p.Val1160Gly)
c.3380T>G (p.Val1127Gly)
c.2561T>G (p.Val854Gly)
n.4112T>G
13g.51937486A>GCA388021390ATP7Bc.*1543T>C (n.*1543T>C)
c.*2637T>C (n.*2637T>C)
c.3272T>C (p.Val1091Ala)
c.3893T>C (p.Val1298Ala)
c.3560T>C (p.Val1187Ala)
c.3641T>C (p.Val1214Ala)
n.1134T>C
c.3659T>C (p.Val1220Ala)
n.4032T>C
n.759T>C
c.2828T>C (p.Val943Ala)
c.2603T>C (p.Val868Ala)
c.3698T>C (p.Val1233Ala)
c.1671T>C
c.*994T>C (n.*994T>C)
n.4637T>C
n.3238T>C
c.3749T>C (p.Val1250Ala)
c.3797T>C (p.Val1266Ala)
c.3857T>C (p.Val1286Ala)
c.3407T>C (p.Val1136Ala)
c.1709T>C (p.Val570Ala)
c.1526T>C (p.Val509Ala)
c.3758T>C (p.Val1253Ala)
c.3710T>C (p.Val1237Ala)
c.3479T>C (p.Val1160Ala)
c.3380T>C (p.Val1127Ala)
c.2561T>C (p.Val854Ala)
n.4112T>C
13g.51937486A>TCA388021392ATP7Bc.*1543T>A (n.*1543T>A)
c.*2637T>A (n.*2637T>A)
c.3272T>A (p.Val1091Asp)
c.3893T>A (p.Val1298Asp)
c.3560T>A (p.Val1187Asp)
c.3641T>A (p.Val1214Asp)
n.1134T>A
c.3659T>A (p.Val1220Asp)
n.4032T>A
n.759T>A
c.2828T>A (p.Val943Asp)
c.2603T>A (p.Val868Asp)
c.3698T>A (p.Val1233Asp)
c.1671T>A
c.*994T>A (n.*994T>A)
n.4637T>A
n.3238T>A
c.3749T>A (p.Val1250Asp)
c.3797T>A (p.Val1266Asp)
c.3857T>A (p.Val1286Asp)
c.3407T>A (p.Val1136Asp)
c.1709T>A (p.Val570Asp)
c.1526T>A (p.Val509Asp)
c.3758T>A (p.Val1253Asp)
c.3710T>A (p.Val1237Asp)
c.3479T>A (p.Val1160Asp)
c.3380T>A (p.Val1127Asp)
c.2561T>A (p.Val854Asp)
n.4112T>A
13g.51937487C>ACA388021395ATP7Bc.*1542G>T (n.*1542G>T)
c.*2636G>T (n.*2636G>T)
c.3271G>T (p.Val1091Phe)
c.3892G>T (p.Val1298Phe)
c.3559G>T (p.Val1187Phe)
c.3640G>T (p.Val1214Phe)
n.1133G>T
c.3658G>T (p.Val1220Phe)
n.4031G>T
n.758G>T
c.2827G>T (p.Val943Phe)
c.2602G>T (p.Val868Phe)
c.3697G>T (p.Val1233Phe)
c.1670G>T
c.*993G>T (n.*993G>T)
n.4636G>T
n.3237G>T
c.3748G>T (p.Val1250Phe)
c.3796G>T (p.Val1266Phe)
c.3856G>T (p.Val1286Phe)
c.3406G>T (p.Val1136Phe)
c.1708G>T (p.Val570Phe)
c.1525G>T (p.Val509Phe)
c.3757G>T (p.Val1253Phe)
c.3709G>T (p.Val1237Phe)
c.3478G>T (p.Val1160Phe)
c.3379G>T (p.Val1127Phe)
c.2560G>T (p.Val854Phe)
n.4111G>T
13g.51937487C=CA2091553693ATP7Bc.*1542G= (n.*1542G=)
c.*2636G= (n.*2636G=)
c.3271G= (p.Val1091=)
c.3892G= (p.Val1298=)
c.3559G= (p.Val1187=)
c.3640G= (p.Val1214=)
n.1133G=
c.3658G= (p.Val1220=)
n.4031G=
n.758G=
c.2827G= (p.Val943=)
c.2602G= (p.Val868=)
c.3697G= (p.Val1233=)
c.1670G=
c.*993G= (n.*993G=)
n.4636G=
n.3237G=
c.3748G= (p.Val1250=)
c.3796G= (p.Val1266=)
c.3856G= (p.Val1286=)
c.3406G= (p.Val1136=)
c.1708G= (p.Val570=)
c.1525G= (p.Val509=)
c.3757G= (p.Val1253=)
c.3709G= (p.Val1237=)
c.3478G= (p.Val1160=)
c.3379G= (p.Val1127=)
c.2560G= (p.Val854=)
n.4111G=
13g.51937487C>GCA388021398ATP7Bc.*1542G>C (n.*1542G>C)
c.*2636G>C (n.*2636G>C)
c.3271G>C (p.Val1091Leu)
c.3892G>C (p.Val1298Leu)
c.3559G>C (p.Val1187Leu)
c.3640G>C (p.Val1214Leu)
n.1133G>C
c.3658G>C (p.Val1220Leu)
n.4031G>C
n.758G>C
c.2827G>C (p.Val943Leu)
c.2602G>C (p.Val868Leu)
c.3697G>C (p.Val1233Leu)
c.1670G>C
c.*993G>C (n.*993G>C)
n.4636G>C
n.3237G>C
c.3748G>C (p.Val1250Leu)
c.3796G>C (p.Val1266Leu)
c.3856G>C (p.Val1286Leu)
c.3406G>C (p.Val1136Leu)
c.1708G>C (p.Val570Leu)
c.1525G>C (p.Val509Leu)
c.3757G>C (p.Val1253Leu)
c.3709G>C (p.Val1237Leu)
c.3478G>C (p.Val1160Leu)
c.3379G>C (p.Val1127Leu)
c.2560G>C (p.Val854Leu)
n.4111G>C
 gnomAD v4
13g.51937487C>TCA250073505ATP7Bc.*1542G>A (n.*1542G>A)
c.*2636G>A (n.*2636G>A)
c.3271G>A (p.Val1091Ile)
c.3892G>A (p.Val1298Ile)
c.3559G>A (p.Val1187Ile)
c.3640G>A (p.Val1214Ile)
n.1133G>A
c.3658G>A (p.Val1220Ile)
n.4031G>A
n.758G>A
c.2827G>A (p.Val943Ile)
c.2602G>A (p.Val868Ile)
c.3697G>A (p.Val1233Ile)
c.1670G>A
c.*993G>A (n.*993G>A)
n.4636G>A
n.3237G>A
c.3748G>A (p.Val1250Ile)
c.3796G>A (p.Val1266Ile)
c.3856G>A (p.Val1286Ile)
c.3406G>A (p.Val1136Ile)
c.1708G>A (p.Val570Ile)
c.1525G>A (p.Val509Ile)
c.3757G>A (p.Val1253Ile)
c.3709G>A (p.Val1237Ile)
c.3478G>A (p.Val1160Ile)
c.3379G>A (p.Val1127Ile)
c.2560G>A (p.Val854Ile)
n.4111G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51937487_51937496delinsTGCA2695218744ATP7Bc.*1533_*1542delinsCA (n.*1533_*1542delinsCA)
c.*2627_*2636delinsCA (n.*2627_*2636delinsCA)
c.3262_3271delinsCA (p.Ala1088HisfsTer6)
c.3883_3892delinsCA (p.Ala1295HisfsTer6)
c.3550_3559delinsCA (p.Ala1184HisfsTer6)
c.3631_3640delinsCA (p.Ala1211HisfsTer6)
n.1124_1133delinsCA
c.3649_3658delinsCA (p.Ala1217HisfsTer6)
n.4022_4031delinsCA
n.749_758delinsCA
c.2818_2827delinsCA (p.Ala940HisfsTer6)
c.2593_2602delinsCA (p.Ala865HisfsTer6)
c.3688_3697delinsCA (p.Ala1230HisfsTer6)
c.1661_1670delinsCA
c.*984_*993delinsCA (n.*984_*993delinsCA)
n.4627_4636delinsCA
n.3228_3237delinsCA
c.3739_3748delinsCA (p.Ala1247HisfsTer6)
c.3787_3796delinsCA (p.Ala1263HisfsTer6)
c.3847_3856delinsCA (p.Ala1283HisfsTer6)
c.3397_3406delinsCA (p.Ala1133HisfsTer6)
c.1699_1708delinsCA (p.Ala567HisfsTer6)
c.1516_1525delinsCA (p.Ala506HisfsTer6)
c.3748_3757delinsCA (p.Ala1250HisfsTer6)
c.3700_3709delinsCA (p.Ala1234HisfsTer6)
c.3469_3478delinsCA (p.Ala1157HisfsTer6)
c.3370_3379delinsCA (p.Ala1124HisfsTer6)
c.2551_2560delinsCA (p.Ala851HisfsTer6)
n.4102_4111delinsCA
13g.51937488G>ACA171324ATP7Bc.*1541C>T (n.*1541C>T)
c.*2635C>T (n.*2635C>T)
c.3270C>T (p.Val1090=)
c.3891C>T (p.Val1297=)
c.3558C>T (p.Val1186=)
c.3639C>T (p.Val1213=)
n.1132C>T
c.3657C>T (p.Val1219=)
n.4030C>T
n.757C>T
c.2826C>T (p.Val942=)
c.2601C>T (p.Val867=)
c.3696C>T (p.Val1232=)
c.1669C>T
c.*992C>T (n.*992C>T)
n.4635C>T
n.3236C>T
c.3747C>T (p.Val1249=)
c.3795C>T (p.Val1265=)
c.3855C>T (p.Val1285=)
c.3405C>T (p.Val1135=)
c.1707C>T (p.Val569=)
c.1524C>T (p.Val508=)
c.3756C>T (p.Val1252=)
c.3708C>T (p.Val1236=)
c.3477C>T (p.Val1159=)
c.3378C>T (p.Val1126=)
c.2559C>T (p.Val853=)
n.4110C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937488G>CCA484024277ATP7Bc.*1541C>G (n.*1541C>G)
c.*2635C>G (n.*2635C>G)
c.3270C>G (p.Val1090=)
c.3891C>G (p.Val1297=)
c.3558C>G (p.Val1186=)
c.3639C>G (p.Val1213=)
n.1132C>G
c.3657C>G (p.Val1219=)
n.4030C>G
n.757C>G
c.2826C>G (p.Val942=)
c.2601C>G (p.Val867=)
c.3696C>G (p.Val1232=)
c.1669C>G
c.*992C>G (n.*992C>G)
n.4635C>G
n.3236C>G
c.3747C>G (p.Val1249=)
c.3795C>G (p.Val1265=)
c.3855C>G (p.Val1285=)
c.3405C>G (p.Val1135=)
c.1707C>G (p.Val569=)
c.1524C>G (p.Val508=)
c.3756C>G (p.Val1252=)
c.3708C>G (p.Val1236=)
c.3477C>G (p.Val1159=)
c.3378C>G (p.Val1126=)
c.2559C>G (p.Val853=)
n.4110C>G
 dbSNP
13g.51937488G=CA2091553710ATP7Bc.*1541C= (n.*1541C=)
c.*2635C= (n.*2635C=)
c.3270C= (p.Val1090=)
c.3891C= (p.Val1297=)
c.3558C= (p.Val1186=)
c.3639C= (p.Val1213=)
n.1132C=
c.3657C= (p.Val1219=)
n.4030C=
n.757C=
c.2826C= (p.Val942=)
c.2601C= (p.Val867=)
c.3696C= (p.Val1232=)
c.1669C=
c.*992C= (n.*992C=)
n.4635C=
n.3236C=
c.3747C= (p.Val1249=)
c.3795C= (p.Val1265=)
c.3855C= (p.Val1285=)
c.3405C= (p.Val1135=)
c.1707C= (p.Val569=)
c.1524C= (p.Val508=)
c.3756C= (p.Val1252=)
c.3708C= (p.Val1236=)
c.3477C= (p.Val1159=)
c.3378C= (p.Val1126=)
c.2559C= (p.Val853=)
n.4110C=
13g.51937488G>TCA484024276ATP7Bc.*1541C>A (n.*1541C>A)
c.*2635C>A (n.*2635C>A)
c.3270C>A (p.Val1090=)
c.3891C>A (p.Val1297=)
c.3558C>A (p.Val1186=)
c.3639C>A (p.Val1213=)
n.1132C>A
c.3657C>A (p.Val1219=)
n.4030C>A
n.757C>A
c.2826C>A (p.Val942=)
c.2601C>A (p.Val867=)
c.3696C>A (p.Val1232=)
c.1669C>A
c.*992C>A (n.*992C>A)
n.4635C>A
n.3236C>A
c.3747C>A (p.Val1249=)
c.3795C>A (p.Val1265=)
c.3855C>A (p.Val1285=)
c.3405C>A (p.Val1135=)
c.1707C>A (p.Val569=)
c.1524C>A (p.Val508=)
c.3756C>A (p.Val1252=)
c.3708C>A (p.Val1236=)
c.3477C>A (p.Val1159=)
c.3378C>A (p.Val1126=)
c.2559C>A (p.Val853=)
n.4110C>A
13g.51937489A>CCA388021408ATP7Bc.*1540T>G (n.*1540T>G)
c.*2634T>G (n.*2634T>G)
c.3269T>G (p.Val1090Gly)
c.3890T>G (p.Val1297Gly)
c.3557T>G (p.Val1186Gly)
c.3638T>G (p.Val1213Gly)
n.1131T>G
c.3656T>G (p.Val1219Gly)
n.4029T>G
n.756T>G
c.2825T>G (p.Val942Gly)
c.2600T>G (p.Val867Gly)
c.3695T>G (p.Val1232Gly)
c.1668T>G
c.*991T>G (n.*991T>G)
n.4634T>G
n.3235T>G
c.3746T>G (p.Val1249Gly)
c.3794T>G (p.Val1265Gly)
c.3854T>G (p.Val1285Gly)
c.3404T>G (p.Val1135Gly)
c.1706T>G (p.Val569Gly)
c.1523T>G (p.Val508Gly)
c.3755T>G (p.Val1252Gly)
c.3707T>G (p.Val1236Gly)
c.3476T>G (p.Val1159Gly)
c.3377T>G (p.Val1126Gly)
c.2558T>G (p.Val853Gly)
n.4109T>G
13g.51937489A>GCA388021406ATP7Bc.*1540T>C (n.*1540T>C)
c.*2634T>C (n.*2634T>C)
c.3269T>C (p.Val1090Ala)
c.3890T>C (p.Val1297Ala)
c.3557T>C (p.Val1186Ala)
c.3638T>C (p.Val1213Ala)
n.1131T>C
c.3656T>C (p.Val1219Ala)
n.4029T>C
n.756T>C
c.2825T>C (p.Val942Ala)
c.2600T>C (p.Val867Ala)
c.3695T>C (p.Val1232Ala)
c.1668T>C
c.*991T>C (n.*991T>C)
n.4634T>C
n.3235T>C
c.3746T>C (p.Val1249Ala)
c.3794T>C (p.Val1265Ala)
c.3854T>C (p.Val1285Ala)
c.3404T>C (p.Val1135Ala)
c.1706T>C (p.Val569Ala)
c.1523T>C (p.Val508Ala)
c.3755T>C (p.Val1252Ala)
c.3707T>C (p.Val1236Ala)
c.3476T>C (p.Val1159Ala)
c.3377T>C (p.Val1126Ala)
c.2558T>C (p.Val853Ala)
n.4109T>C
 gnomAD v4
13g.51937489A>TCA388021404ATP7Bc.*1540T>A (n.*1540T>A)
c.*2634T>A (n.*2634T>A)
c.3269T>A (p.Val1090Asp)
c.3890T>A (p.Val1297Asp)
c.3557T>A (p.Val1186Asp)
c.3638T>A (p.Val1213Asp)
n.1131T>A
c.3656T>A (p.Val1219Asp)
n.4029T>A
n.756T>A
c.2825T>A (p.Val942Asp)
c.2600T>A (p.Val867Asp)
c.3695T>A (p.Val1232Asp)
c.1668T>A
c.*991T>A (n.*991T>A)
n.4634T>A
n.3235T>A
c.3746T>A (p.Val1249Asp)
c.3794T>A (p.Val1265Asp)
c.3854T>A (p.Val1285Asp)
c.3404T>A (p.Val1135Asp)
c.1706T>A (p.Val569Asp)
c.1523T>A (p.Val508Asp)
c.3755T>A (p.Val1252Asp)
c.3707T>A (p.Val1236Asp)
c.3476T>A (p.Val1159Asp)
c.3377T>A (p.Val1126Asp)
c.2558T>A (p.Val853Asp)
n.4109T>A
13g.51937489_51937496delCA2573149694ATP7Bc.*1533_*1540del (n.*1533_*1540del)
c.*2627_*2634del (n.*2627_*2634del)
c.3262_3269del (p.Ala1088ArgfsTer6)
c.3883_3890del (p.Ala1295ArgfsTer6)
c.3550_3557del (p.Ala1184ArgfsTer6)
c.3631_3638del (p.Ala1211ArgfsTer6)
n.1124_1131del
c.3649_3656del (p.Ala1217ArgfsTer6)
n.4022_4029del
n.749_756del
c.2818_2825del (p.Ala940ArgfsTer6)
c.2593_2600del (p.Ala865ArgfsTer6)
c.3688_3695del (p.Ala1230ArgfsTer6)
c.1661_1668del
c.*984_*991del (n.*984_*991del)
n.4627_4634del
n.3228_3235del
c.3739_3746del (p.Ala1247ArgfsTer6)
c.3787_3794del (p.Ala1263ArgfsTer6)
c.3847_3854del (p.Ala1283ArgfsTer6)
c.3397_3404del (p.Ala1133ArgfsTer6)
c.1699_1706del (p.Ala567ArgfsTer6)
c.1516_1523del (p.Ala506ArgfsTer6)
c.3748_3755del (p.Ala1250ArgfsTer6)
c.3700_3707del (p.Ala1234ArgfsTer6)
c.3469_3476del (p.Ala1157ArgfsTer6)
c.3370_3377del (p.Ala1124ArgfsTer6)
c.2551_2558del (p.Ala851ArgfsTer6)
n.4102_4109del
 ClinVar dbSNP
13g.51937490C>ACA388021410ATP7Bc.*1539G>T (n.*1539G>T)
c.*2633G>T (n.*2633G>T)
c.3268G>T (p.Val1090Phe)
c.3889G>T (p.Val1297Phe)
c.3556G>T (p.Val1186Phe)
c.3637G>T (p.Val1213Phe)
n.1130G>T
c.3655G>T (p.Val1219Phe)
n.4028G>T
n.755G>T
c.2824G>T (p.Val942Phe)
c.2599G>T (p.Val867Phe)
c.3694G>T (p.Val1232Phe)
c.1667G>T
c.*990G>T (n.*990G>T)
n.4633G>T
n.3234G>T
c.3745G>T (p.Val1249Phe)
c.3793G>T (p.Val1265Phe)
c.3853G>T (p.Val1285Phe)
c.3403G>T (p.Val1135Phe)
c.1705G>T (p.Val569Phe)
c.1522G>T (p.Val508Phe)
c.3754G>T (p.Val1252Phe)
c.3706G>T (p.Val1236Phe)
c.3475G>T (p.Val1159Phe)
c.3376G>T (p.Val1126Phe)
c.2557G>T (p.Val853Phe)
n.4108G>T
13g.51937490C=CA2091553720ATP7Bc.*1539G= (n.*1539G=)
c.*2633G= (n.*2633G=)
c.3268G= (p.Val1090=)
c.3889G= (p.Val1297=)
c.3556G= (p.Val1186=)
c.3637G= (p.Val1213=)
n.1130G=
c.3655G= (p.Val1219=)
n.4028G=
n.755G=
c.2824G= (p.Val942=)
c.2599G= (p.Val867=)
c.3694G= (p.Val1232=)
c.1667G=
c.*990G= (n.*990G=)
n.4633G=
n.3234G=
c.3745G= (p.Val1249=)
c.3793G= (p.Val1265=)
c.3853G= (p.Val1285=)
c.3403G= (p.Val1135=)
c.1705G= (p.Val569=)
c.1522G= (p.Val508=)
c.3754G= (p.Val1252=)
c.3706G= (p.Val1236=)
c.3475G= (p.Val1159=)
c.3376G= (p.Val1126=)
c.2557G= (p.Val853=)
n.4108G=
13g.51937490C>GCA388021412ATP7Bc.*1539G>C (n.*1539G>C)
c.*2633G>C (n.*2633G>C)
c.3268G>C (p.Val1090Leu)
c.3889G>C (p.Val1297Leu)
c.3556G>C (p.Val1186Leu)
c.3637G>C (p.Val1213Leu)
n.1130G>C
c.3655G>C (p.Val1219Leu)
n.4028G>C
n.755G>C
c.2824G>C (p.Val942Leu)
c.2599G>C (p.Val867Leu)
c.3694G>C (p.Val1232Leu)
c.1667G>C
c.*990G>C (n.*990G>C)
n.4633G>C
n.3234G>C
c.3745G>C (p.Val1249Leu)
c.3793G>C (p.Val1265Leu)
c.3853G>C (p.Val1285Leu)
c.3403G>C (p.Val1135Leu)
c.1705G>C (p.Val569Leu)
c.1522G>C (p.Val508Leu)
c.3754G>C (p.Val1252Leu)
c.3706G>C (p.Val1236Leu)
c.3475G>C (p.Val1159Leu)
c.3376G>C (p.Val1126Leu)
c.2557G>C (p.Val853Leu)
n.4108G>C
13g.51937490C>TCA145689ATP7Bc.*1539G>A (n.*1539G>A)
c.*2633G>A (n.*2633G>A)
c.3268G>A (p.Val1090Ile)
c.3889G>A (p.Val1297Ile)
c.3556G>A (p.Val1186Ile)
c.3637G>A (p.Val1213Ile)
n.1130G>A
c.3655G>A (p.Val1219Ile)
n.4028G>A
n.755G>A
c.2824G>A (p.Val942Ile)
c.2599G>A (p.Val867Ile)
c.3694G>A (p.Val1232Ile)
c.1667G>A
c.*990G>A (n.*990G>A)
n.4633G>A
n.3234G>A
c.3745G>A (p.Val1249Ile)
c.3793G>A (p.Val1265Ile)
c.3853G>A (p.Val1285Ile)
c.3403G>A (p.Val1135Ile)
c.1705G>A (p.Val569Ile)
c.1522G>A (p.Val508Ile)
c.3754G>A (p.Val1252Ile)
c.3706G>A (p.Val1236Ile)
c.3475G>A (p.Val1159Ile)
c.3376G>A (p.Val1126Ile)
c.2557G>A (p.Val853Ile)
n.4108G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937491delCA2695218746ATP7Bc.*1538del (n.*1538del)
c.*2632del (n.*2632del)
c.3267del (p.Asp1089GlufsTer?)
c.3888del (p.Asp1296GlufsTer?)
c.3555del (p.Asp1185GlufsTer?)
c.3636del (p.Asp1212GlufsTer?)
n.1129del
c.3654del (p.Asp1218GlufsTer?)
n.4027del
n.754del
c.2823del (p.Asp941GlufsTer?)
c.2598del (p.Asp866GlufsTer?)
c.3693del (p.Asp1231GlufsTer?)
c.1666del
c.*989del (n.*989del)
n.4632del
n.3233del
c.3744del (p.Asp1248GlufsTer?)
c.3792del (p.Asp1264GlufsTer?)
c.3852del (p.Asp1284GlufsTer?)
c.3402del (p.Asp1134GlufsTer?)
c.1704del (p.Asp568GlufsTer?)
c.1521del (p.Asp507GlufsTer?)
c.3753del (p.Asp1251GlufsTer?)
c.3705del (p.Asp1235GlufsTer?)
c.3474del (p.Asp1158GlufsTer?)
c.3375del (p.Asp1125GlufsTer?)
c.2556del (p.Asp852GlufsTer?)
n.4107del
13g.51937491G>ACA6988549ATP7Bc.*1538C>T (n.*1538C>T)
c.*2632C>T (n.*2632C>T)
c.3267C>T (p.Asp1089=)
c.3888C>T (p.Asp1296=)
c.3555C>T (p.Asp1185=)
c.3636C>T (p.Asp1212=)
n.1129C>T
c.3654C>T (p.Asp1218=)
n.4027C>T
n.754C>T
c.2823C>T (p.Asp941=)
c.2598C>T (p.Asp866=)
c.3693C>T (p.Asp1231=)
c.1666C>T
c.*989C>T (n.*989C>T)
n.4632C>T
n.3233C>T
c.3744C>T (p.Asp1248=)
c.3792C>T (p.Asp1264=)
c.3852C>T (p.Asp1284=)
c.3402C>T (p.Asp1134=)
c.1704C>T (p.Asp568=)
c.1521C>T (p.Asp507=)
c.3753C>T (p.Asp1251=)
c.3705C>T (p.Asp1235=)
c.3474C>T (p.Asp1158=)
c.3375C>T (p.Asp1125=)
c.2556C>T (p.Asp852=)
n.4107C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937491G>CCA388021418ATP7Bc.*1538C>G (n.*1538C>G)
c.*2632C>G (n.*2632C>G)
c.3267C>G (p.Asp1089Glu)
c.3888C>G (p.Asp1296Glu)
c.3555C>G (p.Asp1185Glu)
c.3636C>G (p.Asp1212Glu)
n.1129C>G
c.3654C>G (p.Asp1218Glu)
n.4027C>G
n.754C>G
c.2823C>G (p.Asp941Glu)
c.2598C>G (p.Asp866Glu)
c.3693C>G (p.Asp1231Glu)
c.1666C>G
c.*989C>G (n.*989C>G)
n.4632C>G
n.3233C>G
c.3744C>G (p.Asp1248Glu)
c.3792C>G (p.Asp1264Glu)
c.3852C>G (p.Asp1284Glu)
c.3402C>G (p.Asp1134Glu)
c.1704C>G (p.Asp568Glu)
c.1521C>G (p.Asp507Glu)
c.3753C>G (p.Asp1251Glu)
c.3705C>G (p.Asp1235Glu)
c.3474C>G (p.Asp1158Glu)
c.3375C>G (p.Asp1125Glu)
c.2556C>G (p.Asp852Glu)
n.4107C>G
13g.51937491G=CA2091553732ATP7Bc.*1538C= (n.*1538C=)
c.*2632C= (n.*2632C=)
c.3267C= (p.Asp1089=)
c.3888C= (p.Asp1296=)
c.3555C= (p.Asp1185=)
c.3636C= (p.Asp1212=)
n.1129C=
c.3654C= (p.Asp1218=)
n.4027C=
n.754C=
c.2823C= (p.Asp941=)
c.2598C= (p.Asp866=)
c.3693C= (p.Asp1231=)
c.1666C=
c.*989C= (n.*989C=)
n.4632C=
n.3233C=
c.3744C= (p.Asp1248=)
c.3792C= (p.Asp1264=)
c.3852C= (p.Asp1284=)
c.3402C= (p.Asp1134=)
c.1704C= (p.Asp568=)
c.1521C= (p.Asp507=)
c.3753C= (p.Asp1251=)
c.3705C= (p.Asp1235=)
c.3474C= (p.Asp1158=)
c.3375C= (p.Asp1125=)
c.2556C= (p.Asp852=)
n.4107C=
13g.51937491G>TCA388021420ATP7Bc.*1538C>A (n.*1538C>A)
c.*2632C>A (n.*2632C>A)
c.3267C>A (p.Asp1089Glu)
c.3888C>A (p.Asp1296Glu)
c.3555C>A (p.Asp1185Glu)
c.3636C>A (p.Asp1212Glu)
n.1129C>A
c.3654C>A (p.Asp1218Glu)
n.4027C>A
n.754C>A
c.2823C>A (p.Asp941Glu)
c.2598C>A (p.Asp866Glu)
c.3693C>A (p.Asp1231Glu)
c.1666C>A
c.*989C>A (n.*989C>A)
n.4632C>A
n.3233C>A
c.3744C>A (p.Asp1248Glu)
c.3792C>A (p.Asp1264Glu)
c.3852C>A (p.Asp1284Glu)
c.3402C>A (p.Asp1134Glu)
c.1704C>A (p.Asp568Glu)
c.1521C>A (p.Asp507Glu)
c.3753C>A (p.Asp1251Glu)
c.3705C>A (p.Asp1235Glu)
c.3474C>A (p.Asp1158Glu)
c.3375C>A (p.Asp1125Glu)
c.2556C>A (p.Asp852Glu)
n.4107C>A
 gnomAD v4
13g.51937492T>ACA388021424ATP7Bc.*1537A>T (n.*1537A>T)
c.*2631A>T (n.*2631A>T)
c.3266A>T (p.Asp1089Val)
c.3887A>T (p.Asp1296Val)
c.3554A>T (p.Asp1185Val)
c.3635A>T (p.Asp1212Val)
n.1128A>T
c.3653A>T (p.Asp1218Val)
n.4026A>T
n.753A>T
c.2822A>T (p.Asp941Val)
c.2597A>T (p.Asp866Val)
c.3692A>T (p.Asp1231Val)
c.1665A>T
c.*988A>T (n.*988A>T)
n.4631A>T
n.3232A>T
c.3743A>T (p.Asp1248Val)
c.3791A>T (p.Asp1264Val)
c.3851A>T (p.Asp1284Val)
c.3401A>T (p.Asp1134Val)
c.1703A>T (p.Asp568Val)
c.1520A>T (p.Asp507Val)
c.3752A>T (p.Asp1251Val)
c.3704A>T (p.Asp1235Val)
c.3473A>T (p.Asp1158Val)
c.3374A>T (p.Asp1125Val)
c.2555A>T (p.Asp852Val)
n.4106A>T
13g.51937492T>CCA388021427ATP7Bc.*1537A>G (n.*1537A>G)
c.*2631A>G (n.*2631A>G)
c.3266A>G (p.Asp1089Gly)
c.3887A>G (p.Asp1296Gly)
c.3554A>G (p.Asp1185Gly)
c.3635A>G (p.Asp1212Gly)
n.1128A>G
c.3653A>G (p.Asp1218Gly)
n.4026A>G
n.753A>G
c.2822A>G (p.Asp941Gly)
c.2597A>G (p.Asp866Gly)
c.3692A>G (p.Asp1231Gly)
c.1665A>G
c.*988A>G (n.*988A>G)
n.4631A>G
n.3232A>G
c.3743A>G (p.Asp1248Gly)
c.3791A>G (p.Asp1264Gly)
c.3851A>G (p.Asp1284Gly)
c.3401A>G (p.Asp1134Gly)
c.1703A>G (p.Asp568Gly)
c.1520A>G (p.Asp507Gly)
c.3752A>G (p.Asp1251Gly)
c.3704A>G (p.Asp1235Gly)
c.3473A>G (p.Asp1158Gly)
c.3374A>G (p.Asp1125Gly)
c.2555A>G (p.Asp852Gly)
n.4106A>G
 ClinVar dbSNP
13g.51937492T>GCA388021429ATP7Bc.*1537A>C (n.*1537A>C)
c.*2631A>C (n.*2631A>C)
c.3266A>C (p.Asp1089Ala)
c.3887A>C (p.Asp1296Ala)
c.3554A>C (p.Asp1185Ala)
c.3635A>C (p.Asp1212Ala)
n.1128A>C
c.3653A>C (p.Asp1218Ala)
n.4026A>C
n.753A>C
c.2822A>C (p.Asp941Ala)
c.2597A>C (p.Asp866Ala)
c.3692A>C (p.Asp1231Ala)
c.1665A>C
c.*988A>C (n.*988A>C)
n.4631A>C
n.3232A>C
c.3743A>C (p.Asp1248Ala)
c.3791A>C (p.Asp1264Ala)
c.3851A>C (p.Asp1284Ala)
c.3401A>C (p.Asp1134Ala)
c.1703A>C (p.Asp568Ala)
c.1520A>C (p.Asp507Ala)
c.3752A>C (p.Asp1251Ala)
c.3704A>C (p.Asp1235Ala)
c.3473A>C (p.Asp1158Ala)
c.3374A>C (p.Asp1125Ala)
c.2555A>C (p.Asp852Ala)
n.4106A>C
13g.51937492T=CA2091553745ATP7Bc.*1537A= (n.*1537A=)
c.*2631A= (n.*2631A=)
c.3266A= (p.Asp1089=)
c.3887A= (p.Asp1296=)
c.3554A= (p.Asp1185=)
c.3635A= (p.Asp1212=)
n.1128A=
c.3653A= (p.Asp1218=)
n.4026A=
n.753A=
c.2822A= (p.Asp941=)
c.2597A= (p.Asp866=)
c.3692A= (p.Asp1231=)
c.1665A=
c.*988A= (n.*988A=)
n.4631A=
n.3232A=
c.3743A= (p.Asp1248=)
c.3791A= (p.Asp1264=)
c.3851A= (p.Asp1284=)
c.3401A= (p.Asp1134=)
c.1703A= (p.Asp568=)
c.1520A= (p.Asp507=)
c.3752A= (p.Asp1251=)
c.3704A= (p.Asp1235=)
c.3473A= (p.Asp1158=)
c.3374A= (p.Asp1125=)
c.2555A= (p.Asp852=)
n.4106A=
13g.51937493C>ACA388021431ATP7Bc.*1536G>T (n.*1536G>T)
c.*2630G>T (n.*2630G>T)
c.3265G>T (p.Asp1089Tyr)
c.3886G>T (p.Asp1296Tyr)
c.3553G>T (p.Asp1185Tyr)
c.3634G>T (p.Asp1212Tyr)
n.1127G>T
c.3652G>T (p.Asp1218Tyr)
n.4025G>T
n.752G>T
c.2821G>T (p.Asp941Tyr)
c.2596G>T (p.Asp866Tyr)
c.3691G>T (p.Asp1231Tyr)
c.1664G>T
c.*987G>T (n.*987G>T)
n.4630G>T
n.3231G>T
c.3742G>T (p.Asp1248Tyr)
c.3790G>T (p.Asp1264Tyr)
c.3850G>T (p.Asp1284Tyr)
c.3400G>T (p.Asp1134Tyr)
c.1702G>T (p.Asp568Tyr)
c.1519G>T (p.Asp507Tyr)
c.3751G>T (p.Asp1251Tyr)
c.3703G>T (p.Asp1235Tyr)
c.3472G>T (p.Asp1158Tyr)
c.3373G>T (p.Asp1125Tyr)
c.2554G>T (p.Asp852Tyr)
n.4105G>T
13g.51937493C=CA2091553755ATP7Bc.*1536G= (n.*1536G=)
c.*2630G= (n.*2630G=)
c.3265G= (p.Asp1089=)
c.3886G= (p.Asp1296=)
c.3553G= (p.Asp1185=)
c.3634G= (p.Asp1212=)
n.1127G=
c.3652G= (p.Asp1218=)
n.4025G=
n.752G=
c.2821G= (p.Asp941=)
c.2596G= (p.Asp866=)
c.3691G= (p.Asp1231=)
c.1664G=
c.*987G= (n.*987G=)
n.4630G=
n.3231G=
c.3742G= (p.Asp1248=)
c.3790G= (p.Asp1264=)
c.3850G= (p.Asp1284=)
c.3400G= (p.Asp1134=)
c.1702G= (p.Asp568=)
c.1519G= (p.Asp507=)
c.3751G= (p.Asp1251=)
c.3703G= (p.Asp1235=)
c.3472G= (p.Asp1158=)
c.3373G= (p.Asp1125=)
c.2554G= (p.Asp852=)
n.4105G=
13g.51937493C>GCA388021433ATP7Bc.*1536G>C (n.*1536G>C)
c.*2630G>C (n.*2630G>C)
c.3265G>C (p.Asp1089His)
c.3886G>C (p.Asp1296His)
c.3553G>C (p.Asp1185His)
c.3634G>C (p.Asp1212His)
n.1127G>C
c.3652G>C (p.Asp1218His)
n.4025G>C
n.752G>C
c.2821G>C (p.Asp941His)
c.2596G>C (p.Asp866His)
c.3691G>C (p.Asp1231His)
c.1664G>C
c.*987G>C (n.*987G>C)
n.4630G>C
n.3231G>C
c.3742G>C (p.Asp1248His)
c.3790G>C (p.Asp1264His)
c.3850G>C (p.Asp1284His)
c.3400G>C (p.Asp1134His)
c.1702G>C (p.Asp568His)
c.1519G>C (p.Asp507His)
c.3751G>C (p.Asp1251His)
c.3703G>C (p.Asp1235His)
c.3472G>C (p.Asp1158His)
c.3373G>C (p.Asp1125His)
c.2554G>C (p.Asp852His)
n.4105G>C
13g.51937493C>TCA272855ATP7Bc.*1536G>A (n.*1536G>A)
c.*2630G>A (n.*2630G>A)
c.3265G>A (p.Asp1089Asn)
c.3886G>A (p.Asp1296Asn)
c.3553G>A (p.Asp1185Asn)
c.3634G>A (p.Asp1212Asn)
n.1127G>A
c.3652G>A (p.Asp1218Asn)
n.4025G>A
n.752G>A
c.2821G>A (p.Asp941Asn)
c.2596G>A (p.Asp866Asn)
c.3691G>A (p.Asp1231Asn)
c.1664G>A
c.*987G>A (n.*987G>A)
n.4630G>A
n.3231G>A
c.3742G>A (p.Asp1248Asn)
c.3790G>A (p.Asp1264Asn)
c.3850G>A (p.Asp1284Asn)
c.3400G>A (p.Asp1134Asn)
c.1702G>A (p.Asp568Asn)
c.1519G>A (p.Asp507Asn)
c.3751G>A (p.Asp1251Asn)
c.3703G>A (p.Asp1235Asn)
c.3472G>A (p.Asp1158Asn)
c.3373G>A (p.Asp1125Asn)
c.2554G>A (p.Asp852Asn)
n.4105G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937494G>ACA6988550ATP7Bc.*1535C>T (n.*1535C>T)
c.*2629C>T (n.*2629C>T)
c.3264C>T (p.Ala1088=)
c.3885C>T (p.Ala1295=)
c.3552C>T (p.Ala1184=)
c.3633C>T (p.Ala1211=)
n.1126C>T
c.3651C>T (p.Ala1217=)
n.4024C>T
n.751C>T
c.2820C>T (p.Ala940=)
c.2595C>T (p.Ala865=)
c.3690C>T (p.Ala1230=)
c.1663C>T
c.*986C>T (n.*986C>T)
n.4629C>T
n.3230C>T
c.3741C>T (p.Ala1247=)
c.3789C>T (p.Ala1263=)
c.3849C>T (p.Ala1283=)
c.3399C>T (p.Ala1133=)
c.1701C>T (p.Ala567=)
c.1518C>T (p.Ala506=)
c.3750C>T (p.Ala1250=)
c.3702C>T (p.Ala1234=)
c.3471C>T (p.Ala1157=)
c.3372C>T (p.Ala1124=)
c.2553C>T (p.Ala851=)
n.4104C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937494G>CCA484024278ATP7Bc.*1535C>G (n.*1535C>G)
c.*2629C>G (n.*2629C>G)
c.3264C>G (p.Ala1088=)
c.3885C>G (p.Ala1295=)
c.3552C>G (p.Ala1184=)
c.3633C>G (p.Ala1211=)
n.1126C>G
c.3651C>G (p.Ala1217=)
n.4024C>G
n.751C>G
c.2820C>G (p.Ala940=)
c.2595C>G (p.Ala865=)
c.3690C>G (p.Ala1230=)
c.1663C>G
c.*986C>G (n.*986C>G)
n.4629C>G
n.3230C>G
c.3741C>G (p.Ala1247=)
c.3789C>G (p.Ala1263=)
c.3849C>G (p.Ala1283=)
c.3399C>G (p.Ala1133=)
c.1701C>G (p.Ala567=)
c.1518C>G (p.Ala506=)
c.3750C>G (p.Ala1250=)
c.3702C>G (p.Ala1234=)
c.3471C>G (p.Ala1157=)
c.3372C>G (p.Ala1124=)
c.2553C>G (p.Ala851=)
n.4104C>G
13g.51937494G=CA2091553762ATP7Bc.*1535C= (n.*1535C=)
c.*2629C= (n.*2629C=)
c.3264C= (p.Ala1088=)
c.3885C= (p.Ala1295=)
c.3552C= (p.Ala1184=)
c.3633C= (p.Ala1211=)
n.1126C=
c.3651C= (p.Ala1217=)
n.4024C=
n.751C=
c.2820C= (p.Ala940=)
c.2595C= (p.Ala865=)
c.3690C= (p.Ala1230=)
c.1663C=
c.*986C= (n.*986C=)
n.4629C=
n.3230C=
c.3741C= (p.Ala1247=)
c.3789C= (p.Ala1263=)
c.3849C= (p.Ala1283=)
c.3399C= (p.Ala1133=)
c.1701C= (p.Ala567=)
c.1518C= (p.Ala506=)
c.3750C= (p.Ala1250=)
c.3702C= (p.Ala1234=)
c.3471C= (p.Ala1157=)
c.3372C= (p.Ala1124=)
c.2553C= (p.Ala851=)
n.4104C=
13g.51937494G>TCA484024279ATP7Bc.*1535C>A (n.*1535C>A)
c.*2629C>A (n.*2629C>A)
c.3264C>A (p.Ala1088=)
c.3885C>A (p.Ala1295=)
c.3552C>A (p.Ala1184=)
c.3633C>A (p.Ala1211=)
n.1126C>A
c.3651C>A (p.Ala1217=)
n.4024C>A
n.751C>A
c.2820C>A (p.Ala940=)
c.2595C>A (p.Ala865=)
c.3690C>A (p.Ala1230=)
c.1663C>A
c.*986C>A (n.*986C>A)
n.4629C>A
n.3230C>A
c.3741C>A (p.Ala1247=)
c.3789C>A (p.Ala1263=)
c.3849C>A (p.Ala1283=)
c.3399C>A (p.Ala1133=)
c.1701C>A (p.Ala567=)
c.1518C>A (p.Ala506=)
c.3750C>A (p.Ala1250=)
c.3702C>A (p.Ala1234=)
c.3471C>A (p.Ala1157=)
c.3372C>A (p.Ala1124=)
c.2553C>A (p.Ala851=)
n.4104C>A
 ClinVar dbSNP
13g.51937495G>ACA388021441ATP7Bc.*1534C>T (n.*1534C>T)
c.*2628C>T (n.*2628C>T)
c.3263C>T (p.Ala1088Val)
c.3884C>T (p.Ala1295Val)
c.3551C>T (p.Ala1184Val)
c.3632C>T (p.Ala1211Val)
n.1125C>T
c.3650C>T (p.Ala1217Val)
n.4023C>T
n.750C>T
c.2819C>T (p.Ala940Val)
c.2594C>T (p.Ala865Val)
c.3689C>T (p.Ala1230Val)
c.1662C>T
c.*985C>T (n.*985C>T)
n.4628C>T
n.3229C>T
c.3740C>T (p.Ala1247Val)
c.3788C>T (p.Ala1263Val)
c.3848C>T (p.Ala1283Val)
c.3398C>T (p.Ala1133Val)
c.1700C>T (p.Ala567Val)
c.1517C>T (p.Ala506Val)
c.3749C>T (p.Ala1250Val)
c.3701C>T (p.Ala1234Val)
c.3470C>T (p.Ala1157Val)
c.3371C>T (p.Ala1124Val)
c.2552C>T (p.Ala851Val)
n.4103C>T
 ClinVar dbSNP gnomAD v4 COSMIC
13g.51937495G>CCA388021439ATP7Bc.*1534C>G (n.*1534C>G)
c.*2628C>G (n.*2628C>G)
c.3263C>G (p.Ala1088Gly)
c.3884C>G (p.Ala1295Gly)
c.3551C>G (p.Ala1184Gly)
c.3632C>G (p.Ala1211Gly)
n.1125C>G
c.3650C>G (p.Ala1217Gly)
n.4023C>G
n.750C>G
c.2819C>G (p.Ala940Gly)
c.2594C>G (p.Ala865Gly)
c.3689C>G (p.Ala1230Gly)
c.1662C>G
c.*985C>G (n.*985C>G)
n.4628C>G
n.3229C>G
c.3740C>G (p.Ala1247Gly)
c.3788C>G (p.Ala1263Gly)
c.3848C>G (p.Ala1283Gly)
c.3398C>G (p.Ala1133Gly)
c.1700C>G (p.Ala567Gly)
c.1517C>G (p.Ala506Gly)
c.3749C>G (p.Ala1250Gly)
c.3701C>G (p.Ala1234Gly)
c.3470C>G (p.Ala1157Gly)
c.3371C>G (p.Ala1124Gly)
c.2552C>G (p.Ala851Gly)
n.4103C>G
13g.51937495G=CA2091553773ATP7Bc.*1534C= (n.*1534C=)
c.*2628C= (n.*2628C=)
c.3263C= (p.Ala1088=)
c.3884C= (p.Ala1295=)
c.3551C= (p.Ala1184=)
c.3632C= (p.Ala1211=)
n.1125C=
c.3650C= (p.Ala1217=)
n.4023C=
n.750C=
c.2819C= (p.Ala940=)
c.2594C= (p.Ala865=)
c.3689C= (p.Ala1230=)
c.1662C=
c.*985C= (n.*985C=)
n.4628C=
n.3229C=
c.3740C= (p.Ala1247=)
c.3788C= (p.Ala1263=)
c.3848C= (p.Ala1283=)
c.3398C= (p.Ala1133=)
c.1700C= (p.Ala567=)
c.1517C= (p.Ala506=)
c.3749C= (p.Ala1250=)
c.3701C= (p.Ala1234=)
c.3470C= (p.Ala1157=)
c.3371C= (p.Ala1124=)
c.2552C= (p.Ala851=)
n.4103C=
13g.51937495G>TCA388021437ATP7Bc.*1534C>A (n.*1534C>A)
c.*2628C>A (n.*2628C>A)
c.3263C>A (p.Ala1088Asp)
c.3884C>A (p.Ala1295Asp)
c.3551C>A (p.Ala1184Asp)
c.3632C>A (p.Ala1211Asp)
n.1125C>A
c.3650C>A (p.Ala1217Asp)
n.4023C>A
n.750C>A
c.2819C>A (p.Ala940Asp)
c.2594C>A (p.Ala865Asp)
c.3689C>A (p.Ala1230Asp)
c.1662C>A
c.*985C>A (n.*985C>A)
n.4628C>A
n.3229C>A
c.3740C>A (p.Ala1247Asp)
c.3788C>A (p.Ala1263Asp)
c.3848C>A (p.Ala1283Asp)
c.3398C>A (p.Ala1133Asp)
c.1700C>A (p.Ala567Asp)
c.1517C>A (p.Ala506Asp)
c.3749C>A (p.Ala1250Asp)
c.3701C>A (p.Ala1234Asp)
c.3470C>A (p.Ala1157Asp)
c.3371C>A (p.Ala1124Asp)
c.2552C>A (p.Ala851Asp)
n.4103C>A
 dbSNP gnomAD v2
13g.51937496C>ACA388021448ATP7Bc.*1533G>T (n.*1533G>T)
c.*2627G>T (n.*2627G>T)
c.3262G>T (p.Ala1088Ser)
c.3883G>T (p.Ala1295Ser)
c.3550G>T (p.Ala1184Ser)
c.3631G>T (p.Ala1211Ser)
n.1124G>T
c.3649G>T (p.Ala1217Ser)
n.4022G>T
n.749G>T
c.2818G>T (p.Ala940Ser)
c.2593G>T (p.Ala865Ser)
c.3688G>T (p.Ala1230Ser)
c.1661G>T
c.*984G>T (n.*984G>T)
n.4627G>T
n.3228G>T
c.3739G>T (p.Ala1247Ser)
c.3787G>T (p.Ala1263Ser)
c.3847G>T (p.Ala1283Ser)
c.3397G>T (p.Ala1133Ser)
c.1699G>T (p.Ala567Ser)
c.1516G>T (p.Ala506Ser)
c.3748G>T (p.Ala1250Ser)
c.3700G>T (p.Ala1234Ser)
c.3469G>T (p.Ala1157Ser)
c.3370G>T (p.Ala1124Ser)
c.2551G>T (p.Ala851Ser)
n.4102G>T
13g.51937496C>GCA388021445ATP7Bc.*1533G>C (n.*1533G>C)
c.*2627G>C (n.*2627G>C)
c.3262G>C (p.Ala1088Pro)
c.3883G>C (p.Ala1295Pro)
c.3550G>C (p.Ala1184Pro)
c.3631G>C (p.Ala1211Pro)
n.1124G>C
c.3649G>C (p.Ala1217Pro)
n.4022G>C
n.749G>C
c.2818G>C (p.Ala940Pro)
c.2593G>C (p.Ala865Pro)
c.3688G>C (p.Ala1230Pro)
c.1661G>C
c.*984G>C (n.*984G>C)
n.4627G>C
n.3228G>C
c.3739G>C (p.Ala1247Pro)
c.3787G>C (p.Ala1263Pro)
c.3847G>C (p.Ala1283Pro)
c.3397G>C (p.Ala1133Pro)
c.1699G>C (p.Ala567Pro)
c.1516G>C (p.Ala506Pro)
c.3748G>C (p.Ala1250Pro)
c.3700G>C (p.Ala1234Pro)
c.3469G>C (p.Ala1157Pro)
c.3370G>C (p.Ala1124Pro)
c.2551G>C (p.Ala851Pro)
n.4102G>C
13g.51937496C>TCA388021450ATP7Bc.*1533G>A (n.*1533G>A)
c.*2627G>A (n.*2627G>A)
c.3262G>A (p.Ala1088Thr)
c.3883G>A (p.Ala1295Thr)
c.3550G>A (p.Ala1184Thr)
c.3631G>A (p.Ala1211Thr)
n.1124G>A
c.3649G>A (p.Ala1217Thr)
n.4022G>A
n.749G>A
c.2818G>A (p.Ala940Thr)
c.2593G>A (p.Ala865Thr)
c.3688G>A (p.Ala1230Thr)
c.1661G>A
c.*984G>A (n.*984G>A)
n.4627G>A
n.3228G>A
c.3739G>A (p.Ala1247Thr)
c.3787G>A (p.Ala1263Thr)
c.3847G>A (p.Ala1283Thr)
c.3397G>A (p.Ala1133Thr)
c.1699G>A (p.Ala567Thr)
c.1516G>A (p.Ala506Thr)
c.3748G>A (p.Ala1250Thr)
c.3700G>A (p.Ala1234Thr)
c.3469G>A (p.Ala1157Thr)
c.3370G>A (p.Ala1124Thr)
c.2551G>A (p.Ala851Thr)
n.4102G>A
13g.51937497T>ACA484024280ATP7Bc.*1532A>T (n.*1532A>T)
c.*2626A>T (n.*2626A>T)
c.3261A>T (p.Ala1087=)
c.3882A>T (p.Ala1294=)
c.3549A>T (p.Ala1183=)
c.3630A>T (p.Ala1210=)
n.1123A>T
c.3648A>T (p.Ala1216=)
n.4021A>T
n.748A>T
c.2817A>T (p.Ala939=)
c.2592A>T (p.Ala864=)
c.3687A>T (p.Ala1229=)
c.1660A>T
c.*983A>T (n.*983A>T)
n.4626A>T
n.3227A>T
c.3738A>T (p.Ala1246=)
c.3786A>T (p.Ala1262=)
c.3846A>T (p.Ala1282=)
c.3396A>T (p.Ala1132=)
c.1698A>T (p.Ala566=)
c.1515A>T (p.Ala505=)
c.3747A>T (p.Ala1249=)
c.3699A>T (p.Ala1233=)
c.3468A>T (p.Ala1156=)
c.3369A>T (p.Ala1123=)
c.2550A>T (p.Ala850=)
n.4101A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51937497T>CCA484024281ATP7Bc.*1532A>G (n.*1532A>G)
c.*2626A>G (n.*2626A>G)
c.3261A>G (p.Ala1087=)
c.3882A>G (p.Ala1294=)
c.3549A>G (p.Ala1183=)
c.3630A>G (p.Ala1210=)
n.1123A>G
c.3648A>G (p.Ala1216=)
n.4021A>G
n.748A>G
c.2817A>G (p.Ala939=)
c.2592A>G (p.Ala864=)
c.3687A>G (p.Ala1229=)
c.1660A>G
c.*983A>G (n.*983A>G)
n.4626A>G
n.3227A>G
c.3738A>G (p.Ala1246=)
c.3786A>G (p.Ala1262=)
c.3846A>G (p.Ala1282=)
c.3396A>G (p.Ala1132=)
c.1698A>G (p.Ala566=)
c.1515A>G (p.Ala505=)
c.3747A>G (p.Ala1249=)
c.3699A>G (p.Ala1233=)
c.3468A>G (p.Ala1156=)
c.3369A>G (p.Ala1123=)
c.2550A>G (p.Ala850=)
n.4101A>G
 ClinVar dbSNP gnomAD v4
13g.51937497T>GCA6988551ATP7Bc.*1532A>C (n.*1532A>C)
c.*2626A>C (n.*2626A>C)
c.3261A>C (p.Ala1087=)
c.3882A>C (p.Ala1294=)
c.3549A>C (p.Ala1183=)
c.3630A>C (p.Ala1210=)
n.1123A>C
c.3648A>C (p.Ala1216=)
n.4021A>C
n.748A>C
c.2817A>C (p.Ala939=)
c.2592A>C (p.Ala864=)
c.3687A>C (p.Ala1229=)
c.1660A>C
c.*983A>C (n.*983A>C)
n.4626A>C
n.3227A>C
c.3738A>C (p.Ala1246=)
c.3786A>C (p.Ala1262=)
c.3846A>C (p.Ala1282=)
c.3396A>C (p.Ala1132=)
c.1698A>C (p.Ala566=)
c.1515A>C (p.Ala505=)
c.3747A>C (p.Ala1249=)
c.3699A>C (p.Ala1233=)
c.3468A>C (p.Ala1156=)
c.3369A>C (p.Ala1123=)
c.2550A>C (p.Ala850=)
n.4101A>C
 dbSNP ExAC gnomAD v2
13g.51937497T=CA2091553780ATP7Bc.*1532A= (n.*1532A=)
c.*2626A= (n.*2626A=)
c.3261A= (p.Ala1087=)
c.3882A= (p.Ala1294=)
c.3549A= (p.Ala1183=)
c.3630A= (p.Ala1210=)
n.1123A=
c.3648A= (p.Ala1216=)
n.4021A=
n.748A=
c.2817A= (p.Ala939=)
c.2592A= (p.Ala864=)
c.3687A= (p.Ala1229=)
c.1660A=
c.*983A= (n.*983A=)
n.4626A=
n.3227A=
c.3738A= (p.Ala1246=)
c.3786A= (p.Ala1262=)
c.3846A= (p.Ala1282=)
c.3396A= (p.Ala1132=)
c.1698A= (p.Ala566=)
c.1515A= (p.Ala505=)
c.3747A= (p.Ala1249=)
c.3699A= (p.Ala1233=)
c.3468A= (p.Ala1156=)
c.3369A= (p.Ala1123=)
c.2550A= (p.Ala850=)
n.4101A=
13g.51937498delCA2695218748ATP7Bc.*1531del (n.*1531del)
c.*2625del (n.*2625del)
c.3260del (p.Ala1087GlufsTer?)
c.3881del (p.Ala1294GlufsTer?)
c.3548del (p.Ala1183GlufsTer?)
c.3629del (p.Ala1210GlufsTer?)
n.1122del
c.3647del (p.Ala1216GlufsTer?)
n.4020del
n.747del
c.2816del (p.Ala939GlufsTer?)
c.2591del (p.Ala864GlufsTer?)
c.3686del (p.Ala1229GlufsTer?)
c.1659del
c.*982del (n.*982del)
n.4625del
n.3226del
c.3737del (p.Ala1246GlufsTer?)
c.3785del (p.Ala1262GlufsTer?)
c.3845del (p.Ala1282GlufsTer?)
c.3395del (p.Ala1132GlufsTer?)
c.1697del (p.Ala566GlufsTer?)
c.1514del (p.Ala505GlufsTer?)
c.3746del (p.Ala1249GlufsTer?)
c.3698del (p.Ala1233GlufsTer?)
c.3467del (p.Ala1156GlufsTer?)
c.3368del (p.Ala1123GlufsTer?)
c.2549del (p.Ala850GlufsTer?)
n.4100del
13g.51937498G>ACA388021453ATP7Bc.*1531C>T (n.*1531C>T)
c.*2625C>T (n.*2625C>T)
c.3260C>T (p.Ala1087Val)
c.3881C>T (p.Ala1294Val)
c.3548C>T (p.Ala1183Val)
c.3629C>T (p.Ala1210Val)
n.1122C>T
c.3647C>T (p.Ala1216Val)
n.4020C>T
n.747C>T
c.2816C>T (p.Ala939Val)
c.2591C>T (p.Ala864Val)
c.3686C>T (p.Ala1229Val)
c.1659C>T
c.*982C>T (n.*982C>T)
n.4625C>T
n.3226C>T
c.3737C>T (p.Ala1246Val)
c.3785C>T (p.Ala1262Val)
c.3845C>T (p.Ala1282Val)
c.3395C>T (p.Ala1132Val)
c.1697C>T (p.Ala566Val)
c.1514C>T (p.Ala505Val)
c.3746C>T (p.Ala1249Val)
c.3698C>T (p.Ala1233Val)
c.3467C>T (p.Ala1156Val)
c.3368C>T (p.Ala1123Val)
c.2549C>T (p.Ala850Val)
n.4100C>T
 dbSNP gnomAD v2 gnomAD v4
13g.51937498G>CCA388021456ATP7Bc.*1531C>G (n.*1531C>G)
c.*2625C>G (n.*2625C>G)
c.3260C>G (p.Ala1087Gly)
c.3881C>G (p.Ala1294Gly)
c.3548C>G (p.Ala1183Gly)
c.3629C>G (p.Ala1210Gly)
n.1122C>G
c.3647C>G (p.Ala1216Gly)
n.4020C>G
n.747C>G
c.2816C>G (p.Ala939Gly)
c.2591C>G (p.Ala864Gly)
c.3686C>G (p.Ala1229Gly)
c.1659C>G
c.*982C>G (n.*982C>G)
n.4625C>G
n.3226C>G
c.3737C>G (p.Ala1246Gly)
c.3785C>G (p.Ala1262Gly)
c.3845C>G (p.Ala1282Gly)
c.3395C>G (p.Ala1132Gly)
c.1697C>G (p.Ala566Gly)
c.1514C>G (p.Ala505Gly)
c.3746C>G (p.Ala1249Gly)
c.3698C>G (p.Ala1233Gly)
c.3467C>G (p.Ala1156Gly)
c.3368C>G (p.Ala1123Gly)
c.2549C>G (p.Ala850Gly)
n.4100C>G
13g.51937498G=CA2091553786ATP7Bc.*1531C= (n.*1531C=)
c.*2625C= (n.*2625C=)
c.3260C= (p.Ala1087=)
c.3881C= (p.Ala1294=)
c.3548C= (p.Ala1183=)
c.3629C= (p.Ala1210=)
n.1122C=
c.3647C= (p.Ala1216=)
n.4020C=
n.747C=
c.2816C= (p.Ala939=)
c.2591C= (p.Ala864=)
c.3686C= (p.Ala1229=)
c.1659C=
c.*982C= (n.*982C=)
n.4625C=
n.3226C=
c.3737C= (p.Ala1246=)
c.3785C= (p.Ala1262=)
c.3845C= (p.Ala1282=)
c.3395C= (p.Ala1132=)
c.1697C= (p.Ala566=)
c.1514C= (p.Ala505=)
c.3746C= (p.Ala1249=)
c.3698C= (p.Ala1233=)
c.3467C= (p.Ala1156=)
c.3368C= (p.Ala1123=)
c.2549C= (p.Ala850=)
n.4100C=
13g.51937498G>TCA388021457ATP7Bc.*1531C>A (n.*1531C>A)
c.*2625C>A (n.*2625C>A)
c.3260C>A (p.Ala1087Glu)
c.3881C>A (p.Ala1294Glu)
c.3548C>A (p.Ala1183Glu)
c.3629C>A (p.Ala1210Glu)
n.1122C>A
c.3647C>A (p.Ala1216Glu)
n.4020C>A
n.747C>A
c.2816C>A (p.Ala939Glu)
c.2591C>A (p.Ala864Glu)
c.3686C>A (p.Ala1229Glu)
c.1659C>A
c.*982C>A (n.*982C>A)
n.4625C>A
n.3226C>A
c.3737C>A (p.Ala1246Glu)
c.3785C>A (p.Ala1262Glu)
c.3845C>A (p.Ala1282Glu)
c.3395C>A (p.Ala1132Glu)
c.1697C>A (p.Ala566Glu)
c.1514C>A (p.Ala505Glu)
c.3746C>A (p.Ala1249Glu)
c.3698C>A (p.Ala1233Glu)
c.3467C>A (p.Ala1156Glu)
c.3368C>A (p.Ala1123Glu)
c.2549C>A (p.Ala850Glu)
n.4100C>A
13g.51937499C>ACA388021460ATP7Bc.*1530G>T (n.*1530G>T)
c.*2624G>T (n.*2624G>T)
c.3259G>T (p.Ala1087Ser)
c.3880G>T (p.Ala1294Ser)
c.3547G>T (p.Ala1183Ser)
c.3628G>T (p.Ala1210Ser)
n.1121G>T
c.3646G>T (p.Ala1216Ser)
n.4019G>T
n.746G>T
c.2815G>T (p.Ala939Ser)
c.2590G>T (p.Ala864Ser)
c.3685G>T (p.Ala1229Ser)
c.1658G>T
c.*981G>T (n.*981G>T)
n.4624G>T
n.3225G>T
c.3736G>T (p.Ala1246Ser)
c.3784G>T (p.Ala1262Ser)
c.3844G>T (p.Ala1282Ser)
c.3394G>T (p.Ala1132Ser)
c.1696G>T (p.Ala566Ser)
c.1513G>T (p.Ala505Ser)
c.3745G>T (p.Ala1249Ser)
c.3697G>T (p.Ala1233Ser)
c.3466G>T (p.Ala1156Ser)
c.3367G>T (p.Ala1123Ser)
c.2548G>T (p.Ala850Ser)
n.4099G>T
13g.51937499C>GCA388021462ATP7Bc.*1530G>C (n.*1530G>C)
c.*2624G>C (n.*2624G>C)
c.3259G>C (p.Ala1087Pro)
c.3880G>C (p.Ala1294Pro)
c.3547G>C (p.Ala1183Pro)
c.3628G>C (p.Ala1210Pro)
n.1121G>C
c.3646G>C (p.Ala1216Pro)
n.4019G>C
n.746G>C
c.2815G>C (p.Ala939Pro)
c.2590G>C (p.Ala864Pro)
c.3685G>C (p.Ala1229Pro)
c.1658G>C
c.*981G>C (n.*981G>C)
n.4624G>C
n.3225G>C
c.3736G>C (p.Ala1246Pro)
c.3784G>C (p.Ala1262Pro)
c.3844G>C (p.Ala1282Pro)
c.3394G>C (p.Ala1132Pro)
c.1696G>C (p.Ala566Pro)
c.1513G>C (p.Ala505Pro)
c.3745G>C (p.Ala1249Pro)
c.3697G>C (p.Ala1233Pro)
c.3466G>C (p.Ala1156Pro)
c.3367G>C (p.Ala1123Pro)
c.2548G>C (p.Ala850Pro)
n.4099G>C
13g.51937499C>TCA388021465ATP7Bc.*1530G>A (n.*1530G>A)
c.*2624G>A (n.*2624G>A)
c.3259G>A (p.Ala1087Thr)
c.3880G>A (p.Ala1294Thr)
c.3547G>A (p.Ala1183Thr)
c.3628G>A (p.Ala1210Thr)
n.1121G>A
c.3646G>A (p.Ala1216Thr)
n.4019G>A
n.746G>A
c.2815G>A (p.Ala939Thr)
c.2590G>A (p.Ala864Thr)
c.3685G>A (p.Ala1229Thr)
c.1658G>A
c.*981G>A (n.*981G>A)
n.4624G>A
n.3225G>A
c.3736G>A (p.Ala1246Thr)
c.3784G>A (p.Ala1262Thr)
c.3844G>A (p.Ala1282Thr)
c.3394G>A (p.Ala1132Thr)
c.1696G>A (p.Ala566Thr)
c.1513G>A (p.Ala505Thr)
c.3745G>A (p.Ala1249Thr)
c.3697G>A (p.Ala1233Thr)
c.3466G>A (p.Ala1156Thr)
c.3367G>A (p.Ala1123Thr)
c.2548G>A (p.Ala850Thr)
n.4099G>A
 ClinVar gnomAD v4
13g.51937500C>ACA388021467ATP7Bc.*1529G>T (n.*1529G>T)
c.*2623G>T (n.*2623G>T)
c.3258G>T (p.Glu1086Asp)
c.3879G>T (p.Glu1293Asp)
c.3546G>T (p.Glu1182Asp)
c.3627G>T (p.Glu1209Asp)
n.1120G>T
c.3645G>T (p.Glu1215Asp)
n.4018G>T
n.745G>T
c.2814G>T (p.Glu938Asp)
c.2589G>T (p.Glu863Asp)
c.3684G>T (p.Glu1228Asp)
c.1657G>T
c.*980G>T (n.*980G>T)
n.4623G>T
n.3224G>T
c.3735G>T (p.Glu1245Asp)
c.3783G>T (p.Glu1261Asp)
c.3843G>T (p.Glu1281Asp)
c.3393G>T (p.Glu1131Asp)
c.1695G>T (p.Glu565Asp)
c.1512G>T (p.Glu504Asp)
c.3744G>T (p.Glu1248Asp)
c.3696G>T (p.Glu1232Asp)
c.3465G>T (p.Glu1155Asp)
c.3366G>T (p.Glu1122Asp)
c.2547G>T (p.Glu849Asp)
n.4098G>T
13g.51937500C>GCA388021468ATP7Bc.*1529G>C (n.*1529G>C)
c.*2623G>C (n.*2623G>C)
c.3258G>C (p.Glu1086Asp)
c.3879G>C (p.Glu1293Asp)
c.3546G>C (p.Glu1182Asp)
c.3627G>C (p.Glu1209Asp)
n.1120G>C
c.3645G>C (p.Glu1215Asp)
n.4018G>C
n.745G>C
c.2814G>C (p.Glu938Asp)
c.2589G>C (p.Glu863Asp)
c.3684G>C (p.Glu1228Asp)
c.1657G>C
c.*980G>C (n.*980G>C)
n.4623G>C
n.3224G>C
c.3735G>C (p.Glu1245Asp)
c.3783G>C (p.Glu1261Asp)
c.3843G>C (p.Glu1281Asp)
c.3393G>C (p.Glu1131Asp)
c.1695G>C (p.Glu565Asp)
c.1512G>C (p.Glu504Asp)
c.3744G>C (p.Glu1248Asp)
c.3696G>C (p.Glu1232Asp)
c.3465G>C (p.Glu1155Asp)
c.3366G>C (p.Glu1122Asp)
c.2547G>C (p.Glu849Asp)
n.4098G>C
 gnomAD v4
13g.51937500C>TCA484024282ATP7Bc.*1529G>A (n.*1529G>A)
c.*2623G>A (n.*2623G>A)
c.3258G>A (p.Glu1086=)
c.3879G>A (p.Glu1293=)
c.3546G>A (p.Glu1182=)
c.3627G>A (p.Glu1209=)
n.1120G>A
c.3645G>A (p.Glu1215=)
n.4018G>A
n.745G>A
c.2814G>A (p.Glu938=)
c.2589G>A (p.Glu863=)
c.3684G>A (p.Glu1228=)
c.1657G>A
c.*980G>A (n.*980G>A)
n.4623G>A
n.3224G>A
c.3735G>A (p.Glu1245=)
c.3783G>A (p.Glu1261=)
c.3843G>A (p.Glu1281=)
c.3393G>A (p.Glu1131=)
c.1695G>A (p.Glu565=)
c.1512G>A (p.Glu504=)
c.3744G>A (p.Glu1248=)
c.3696G>A (p.Glu1232=)
c.3465G>A (p.Glu1155=)
c.3366G>A (p.Glu1122=)
c.2547G>A (p.Glu849=)
n.4098G>A
13g.51937501T>ACA388021470ATP7Bc.*1528A>T (n.*1528A>T)
c.*2622A>T (n.*2622A>T)
c.3257A>T (p.Glu1086Val)
c.3878A>T (p.Glu1293Val)
c.3545A>T (p.Glu1182Val)
c.3626A>T (p.Glu1209Val)
n.1119A>T
c.3644A>T (p.Glu1215Val)
n.4017A>T
n.744A>T
c.2813A>T (p.Glu938Val)
c.2588A>T (p.Glu863Val)
c.3683A>T (p.Glu1228Val)
c.1656A>T
c.*979A>T (n.*979A>T)
n.4622A>T
n.3223A>T
c.3734A>T (p.Glu1245Val)
c.3782A>T (p.Glu1261Val)
c.3842A>T (p.Glu1281Val)
c.3392A>T (p.Glu1131Val)
c.1694A>T (p.Glu565Val)
c.1511A>T (p.Glu504Val)
c.3743A>T (p.Glu1248Val)
c.3695A>T (p.Glu1232Val)
c.3464A>T (p.Glu1155Val)
c.3365A>T (p.Glu1122Val)
c.2546A>T (p.Glu849Val)
n.4097A>T
13g.51937501T>CCA388021472ATP7Bc.*1528A>G (n.*1528A>G)
c.*2622A>G (n.*2622A>G)
c.3257A>G (p.Glu1086Gly)
c.3878A>G (p.Glu1293Gly)
c.3545A>G (p.Glu1182Gly)
c.3626A>G (p.Glu1209Gly)
n.1119A>G
c.3644A>G (p.Glu1215Gly)
n.4017A>G
n.744A>G
c.2813A>G (p.Glu938Gly)
c.2588A>G (p.Glu863Gly)
c.3683A>G (p.Glu1228Gly)
c.1656A>G
c.*979A>G (n.*979A>G)
n.4622A>G
n.3223A>G
c.3734A>G (p.Glu1245Gly)
c.3782A>G (p.Glu1261Gly)
c.3842A>G (p.Glu1281Gly)
c.3392A>G (p.Glu1131Gly)
c.1694A>G (p.Glu565Gly)
c.1511A>G (p.Glu504Gly)
c.3743A>G (p.Glu1248Gly)
c.3695A>G (p.Glu1232Gly)
c.3464A>G (p.Glu1155Gly)
c.3365A>G (p.Glu1122Gly)
c.2546A>G (p.Glu849Gly)
n.4097A>G
13g.51937501T>GCA388021474ATP7Bc.*1528A>C (n.*1528A>C)
c.*2622A>C (n.*2622A>C)
c.3257A>C (p.Glu1086Ala)
c.3878A>C (p.Glu1293Ala)
c.3545A>C (p.Glu1182Ala)
c.3626A>C (p.Glu1209Ala)
n.1119A>C
c.3644A>C (p.Glu1215Ala)
n.4017A>C
n.744A>C
c.2813A>C (p.Glu938Ala)
c.2588A>C (p.Glu863Ala)
c.3683A>C (p.Glu1228Ala)
c.1656A>C
c.*979A>C (n.*979A>C)
n.4622A>C
n.3223A>C
c.3734A>C (p.Glu1245Ala)
c.3782A>C (p.Glu1261Ala)
c.3842A>C (p.Glu1281Ala)
c.3392A>C (p.Glu1131Ala)
c.1694A>C (p.Glu565Ala)
c.1511A>C (p.Glu504Ala)
c.3743A>C (p.Glu1248Ala)
c.3695A>C (p.Glu1232Ala)
c.3464A>C (p.Glu1155Ala)
c.3365A>C (p.Glu1122Ala)
c.2546A>C (p.Glu849Ala)
n.4097A>C
13g.51937502C>ACA388021481ATP7Bc.*1527G>T (n.*1527G>T)
c.*2621G>T (n.*2621G>T)
c.3256G>T (p.Glu1086Ter)
c.3877G>T (p.Glu1293Ter)
c.3544G>T (p.Glu1182Ter)
c.3625G>T (p.Glu1209Ter)
n.1118G>T
c.3643G>T (p.Glu1215Ter)
n.4016G>T
n.743G>T
c.2812G>T (p.Glu938Ter)
c.2587G>T (p.Glu863Ter)
c.3682G>T (p.Glu1228Ter)
c.1655G>T
c.*978G>T (n.*978G>T)
n.4621G>T
n.3222G>T
c.3733G>T (p.Glu1245Ter)
c.3781G>T (p.Glu1261Ter)
c.3841G>T (p.Glu1281Ter)
c.3391G>T (p.Glu1131Ter)
c.1693G>T (p.Glu565Ter)
c.1510G>T (p.Glu504Ter)
c.3742G>T (p.Glu1248Ter)
c.3694G>T (p.Glu1232Ter)
c.3463G>T (p.Glu1155Ter)
c.3364G>T (p.Glu1122Ter)
c.2545G>T (p.Glu849Ter)
n.4096G>T
 COSMIC
13g.51937502C=CA2091553790ATP7Bc.*1527G= (n.*1527G=)
c.*2621G= (n.*2621G=)
c.3256G= (p.Glu1086=)
c.3877G= (p.Glu1293=)
c.3544G= (p.Glu1182=)
c.3625G= (p.Glu1209=)
n.1118G=
c.3643G= (p.Glu1215=)
n.4016G=
n.743G=
c.2812G= (p.Glu938=)
c.2587G= (p.Glu863=)
c.3682G= (p.Glu1228=)
c.1655G=
c.*978G= (n.*978G=)
n.4621G=
n.3222G=
c.3733G= (p.Glu1245=)
c.3781G= (p.Glu1261=)
c.3841G= (p.Glu1281=)
c.3391G= (p.Glu1131=)
c.1693G= (p.Glu565=)
c.1510G= (p.Glu504=)
c.3742G= (p.Glu1248=)
c.3694G= (p.Glu1232=)
c.3463G= (p.Glu1155=)
c.3364G= (p.Glu1122=)
c.2545G= (p.Glu849=)
n.4096G=
13g.51937502C>GCA388021478ATP7Bc.*1527G>C (n.*1527G>C)
c.*2621G>C (n.*2621G>C)
c.3256G>C (p.Glu1086Gln)
c.3877G>C (p.Glu1293Gln)
c.3544G>C (p.Glu1182Gln)
c.3625G>C (p.Glu1209Gln)
n.1118G>C
c.3643G>C (p.Glu1215Gln)
n.4016G>C
n.743G>C
c.2812G>C (p.Glu938Gln)
c.2587G>C (p.Glu863Gln)
c.3682G>C (p.Glu1228Gln)
c.1655G>C
c.*978G>C (n.*978G>C)
n.4621G>C
n.3222G>C
c.3733G>C (p.Glu1245Gln)
c.3781G>C (p.Glu1261Gln)
c.3841G>C (p.Glu1281Gln)
c.3391G>C (p.Glu1131Gln)
c.1693G>C (p.Glu565Gln)
c.1510G>C (p.Glu504Gln)
c.3742G>C (p.Glu1248Gln)
c.3694G>C (p.Glu1232Gln)
c.3463G>C (p.Glu1155Gln)
c.3364G>C (p.Glu1122Gln)
c.2545G>C (p.Glu849Gln)
n.4096G>C
 gnomAD v4
13g.51937502C>TCA6988552ATP7Bc.*1527G>A (n.*1527G>A)
c.*2621G>A (n.*2621G>A)
c.3256G>A (p.Glu1086Lys)
c.3877G>A (p.Glu1293Lys)
c.3544G>A (p.Glu1182Lys)
c.3625G>A (p.Glu1209Lys)
n.1118G>A
c.3643G>A (p.Glu1215Lys)
n.4016G>A
n.743G>A
c.2812G>A (p.Glu938Lys)
c.2587G>A (p.Glu863Lys)
c.3682G>A (p.Glu1228Lys)
c.1655G>A
c.*978G>A (n.*978G>A)
n.4621G>A
n.3222G>A
c.3733G>A (p.Glu1245Lys)
c.3781G>A (p.Glu1261Lys)
c.3841G>A (p.Glu1281Lys)
c.3391G>A (p.Glu1131Lys)
c.1693G>A (p.Glu565Lys)
c.1510G>A (p.Glu504Lys)
c.3742G>A (p.Glu1248Lys)
c.3694G>A (p.Glu1232Lys)
c.3463G>A (p.Glu1155Lys)
c.3364G>A (p.Glu1122Lys)
c.2545G>A (p.Glu849Lys)
n.4096G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937503G>ACA250073562ATP7Bc.*1526C>T (n.*1526C>T)
c.*2620C>T (n.*2620C>T)
c.3255C>T (p.Ile1085=)
c.3876C>T (p.Ile1292=)
c.3543C>T (p.Ile1181=)
c.3624C>T (p.Ile1208=)
n.1117C>T
c.3642C>T (p.Ile1214=)
n.4015C>T
n.742C>T
c.2811C>T (p.Ile937=)
c.2586C>T (p.Ile862=)
c.3681C>T (p.Ile1227=)
c.1654C>T
c.*977C>T (n.*977C>T)
n.4620C>T
n.3221C>T
c.3732C>T (p.Ile1244=)
c.3780C>T (p.Ile1260=)
c.3840C>T (p.Ile1280=)
c.3390C>T (p.Ile1130=)
c.1692C>T (p.Ile564=)
c.1509C>T (p.Ile503=)
c.3741C>T (p.Ile1247=)
c.3693C>T (p.Ile1231=)
c.3462C>T (p.Ile1154=)
c.3363C>T (p.Ile1121=)
c.2544C>T (p.Ile848=)
n.4095C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51937503G>CCA388021483ATP7Bc.*1526C>G (n.*1526C>G)
c.*2620C>G (n.*2620C>G)
c.3255C>G (p.Ile1085Met)
c.3876C>G (p.Ile1292Met)
c.3543C>G (p.Ile1181Met)
c.3624C>G (p.Ile1208Met)
n.1117C>G
c.3642C>G (p.Ile1214Met)
n.4015C>G
n.742C>G
c.2811C>G (p.Ile937Met)
c.2586C>G (p.Ile862Met)
c.3681C>G (p.Ile1227Met)
c.1654C>G
c.*977C>G (n.*977C>G)
n.4620C>G
n.3221C>G
c.3732C>G (p.Ile1244Met)
c.3780C>G (p.Ile1260Met)
c.3840C>G (p.Ile1280Met)
c.3390C>G (p.Ile1130Met)
c.1692C>G (p.Ile564Met)
c.1509C>G (p.Ile503Met)
c.3741C>G (p.Ile1247Met)
c.3693C>G (p.Ile1231Met)
c.3462C>G (p.Ile1154Met)
c.3363C>G (p.Ile1121Met)
c.2544C>G (p.Ile848Met)
n.4095C>G
 dbSNP gnomAD v2
13g.51937503G=CA2091553798ATP7Bc.*1526C= (n.*1526C=)
c.*2620C= (n.*2620C=)
c.3255C= (p.Ile1085=)
c.3876C= (p.Ile1292=)
c.3543C= (p.Ile1181=)
c.3624C= (p.Ile1208=)
n.1117C=
c.3642C= (p.Ile1214=)
n.4015C=
n.742C=
c.2811C= (p.Ile937=)
c.2586C= (p.Ile862=)
c.3681C= (p.Ile1227=)
c.1654C=
c.*977C= (n.*977C=)
n.4620C=
n.3221C=
c.3732C= (p.Ile1244=)
c.3780C= (p.Ile1260=)
c.3840C= (p.Ile1280=)
c.3390C= (p.Ile1130=)
c.1692C= (p.Ile564=)
c.1509C= (p.Ile503=)
c.3741C= (p.Ile1247=)
c.3693C= (p.Ile1231=)
c.3462C= (p.Ile1154=)
c.3363C= (p.Ile1121=)
c.2544C= (p.Ile848=)
n.4095C=
13g.51937503G>TCA484024283ATP7Bc.*1526C>A (n.*1526C>A)
c.*2620C>A (n.*2620C>A)
c.3255C>A (p.Ile1085=)
c.3876C>A (p.Ile1292=)
c.3543C>A (p.Ile1181=)
c.3624C>A (p.Ile1208=)
n.1117C>A
c.3642C>A (p.Ile1214=)
n.4015C>A
n.742C>A
c.2811C>A (p.Ile937=)
c.2586C>A (p.Ile862=)
c.3681C>A (p.Ile1227=)
c.1654C>A
c.*977C>A (n.*977C>A)
n.4620C>A
n.3221C>A
c.3732C>A (p.Ile1244=)
c.3780C>A (p.Ile1260=)
c.3840C>A (p.Ile1280=)
c.3390C>A (p.Ile1130=)
c.1692C>A (p.Ile564=)
c.1509C>A (p.Ile503=)
c.3741C>A (p.Ile1247=)
c.3693C>A (p.Ile1231=)
c.3462C>A (p.Ile1154=)
c.3363C>A (p.Ile1121=)
c.2544C>A (p.Ile848=)
n.4095C>A
13g.51937503_51937527delCA912974791ATP7Bc.*1502_*1526del (n.*1502_*1526del)
c.*2596_*2620del (n.*2596_*2620del)
c.3231_3255del (p.Ile1077MetfsTer?)
c.3852_3876del (p.Ile1284MetfsTer?)
c.3519_3543del (p.Ile1173MetfsTer?)
c.3600_3624del (p.Ile1200MetfsTer?)
n.1093_1117del
c.3618_3642del (p.Ile1206MetfsTer?)
n.3991_4015del
n.718_742del
c.2787_2811del (p.Ile929MetfsTer?)
c.2562_2586del (p.Ile854MetfsTer?)
c.3657_3681del (p.Ile1219MetfsTer?)
c.1630_1654del
c.*953_*977del (n.*953_*977del)
n.4596_4620del
n.3197_3221del
c.3708_3732del (p.Ile1236MetfsTer?)
c.3756_3780del (p.Ile1252MetfsTer?)
c.3816_3840del (p.Ile1272MetfsTer?)
c.3366_3390del (p.Ile1122MetfsTer?)
c.1668_1692del (p.Ile556MetfsTer?)
c.1485_1509del (p.Ile495MetfsTer?)
c.3717_3741del (p.Ile1239MetfsTer?)
c.3669_3693del (p.Ile1223MetfsTer?)
c.3438_3462del (p.Ile1146MetfsTer?)
c.3339_3363del (p.Ile1113MetfsTer?)
c.2520_2544del (p.Ile840MetfsTer?)
n.4071_4095del
13g.51937503_51937527delinsGATGGCCACATCCGTGCCGGTGCCACA2091553802ATP7Bc.*1502_*1526delinsTGGCACCGGCACGGATGTGGCCATC (n.*1502_*1526delinsTGGCACCGGCACGGATGTGGCCATC)
c.*2596_*2620delinsTGGCACCGGCACGGATGTGGCCATC (n.*2596_*2620delinsTGGCACCGGCACGGATGTGGCCATC)
c.3231_3255delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1077=)
c.3852_3876delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1284=)
c.3519_3543delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1173=)
c.3600_3624delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1200=)
n.1093_1117delinsTGGCACCGGCACGGATGTGGCCATC
c.3618_3642delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1206=)
n.3991_4015delinsTGGCACCGGCACGGATGTGGCCATC
n.718_742delinsTGGCACCGGCACGGATGTGGCCATC
c.2787_2811delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile929=)
c.2562_2586delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile854=)
c.3657_3681delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1219=)
c.1630_1654delinsTGGCACCGGCACGGATGTGGCCATC
c.*953_*977delinsTGGCACCGGCACGGATGTGGCCATC (n.*953_*977delinsTGGCACCGGCACGGATGTGGCCATC)
n.4596_4620delinsTGGCACCGGCACGGATGTGGCCATC
n.3197_3221delinsTGGCACCGGCACGGATGTGGCCATC
c.3708_3732delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1236=)
c.3756_3780delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1252=)
c.3816_3840delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1272=)
c.3366_3390delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1122=)
c.1668_1692delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile556=)
c.1485_1509delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile495=)
c.3717_3741delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1239=)
c.3669_3693delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1223=)
c.3438_3462delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1146=)
c.3339_3363delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1113=)
c.2520_2544delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile840=)
n.4071_4095delinsTGGCACCGGCACGGATGTGGCCATC
13g.51937503_51937528delCA2695218750ATP7Bc.*1501_*1526del (n.*1501_*1526del)
c.*2595_*2620del (n.*2595_*2620del)
c.3230_3255del (p.Ile1077ArgfsTer11)
c.3851_3876del (p.Ile1284ArgfsTer11)
c.3518_3543del (p.Ile1173ArgfsTer11)
c.3599_3624del (p.Ile1200ArgfsTer11)
n.1092_1117del
c.3617_3642del (p.Ile1206ArgfsTer11)
n.3990_4015del
n.717_742del
c.2786_2811del (p.Ile929ArgfsTer11)
c.2561_2586del (p.Ile854ArgfsTer11)
c.3656_3681del (p.Ile1219ArgfsTer11)
c.1629_1654del
c.*952_*977del (n.*952_*977del)
n.4595_4620del
n.3196_3221del
c.3707_3732del (p.Ile1236ArgfsTer11)
c.3755_3780del (p.Ile1252ArgfsTer11)
c.3815_3840del (p.Ile1272ArgfsTer11)
c.3365_3390del (p.Ile1122ArgfsTer11)
c.1667_1692del (p.Ile556ArgfsTer11)
c.1484_1509del (p.Ile495ArgfsTer11)
c.3716_3741del (p.Ile1239ArgfsTer11)
c.3668_3693del (p.Ile1223ArgfsTer11)
c.3437_3462del (p.Ile1146ArgfsTer11)
c.3338_3363del (p.Ile1113ArgfsTer11)
c.2519_2544del (p.Ile840ArgfsTer11)
n.4070_4095del
13g.51937504A>CCA388021486ATP7Bc.*1525T>G (n.*1525T>G)
c.*2619T>G (n.*2619T>G)
c.3254T>G (p.Ile1085Ser)
c.3875T>G (p.Ile1292Ser)
c.3542T>G (p.Ile1181Ser)
c.3623T>G (p.Ile1208Ser)
n.1116T>G
c.3641T>G (p.Ile1214Ser)
n.4014T>G
n.741T>G
c.2810T>G (p.Ile937Ser)
c.2585T>G (p.Ile862Ser)
c.3680T>G (p.Ile1227Ser)
c.1653T>G
c.*976T>G (n.*976T>G)
n.4619T>G
n.3220T>G
c.3731T>G (p.Ile1244Ser)
c.3779T>G (p.Ile1260Ser)
c.3839T>G (p.Ile1280Ser)
c.3389T>G (p.Ile1130Ser)
c.1691T>G (p.Ile564Ser)
c.1508T>G (p.Ile503Ser)
c.3740T>G (p.Ile1247Ser)
c.3692T>G (p.Ile1231Ser)
c.3461T>G (p.Ile1154Ser)
c.3362T>G (p.Ile1121Ser)
c.2543T>G (p.Ile848Ser)
n.4094T>G
13g.51937504A>GCA388021488ATP7Bc.*1525T>C (n.*1525T>C)
c.*2619T>C (n.*2619T>C)
c.3254T>C (p.Ile1085Thr)
c.3875T>C (p.Ile1292Thr)
c.3542T>C (p.Ile1181Thr)
c.3623T>C (p.Ile1208Thr)
n.1116T>C
c.3641T>C (p.Ile1214Thr)
n.4014T>C
n.741T>C
c.2810T>C (p.Ile937Thr)
c.2585T>C (p.Ile862Thr)
c.3680T>C (p.Ile1227Thr)
c.1653T>C
c.*976T>C (n.*976T>C)
n.4619T>C
n.3220T>C
c.3731T>C (p.Ile1244Thr)
c.3779T>C (p.Ile1260Thr)
c.3839T>C (p.Ile1280Thr)
c.3389T>C (p.Ile1130Thr)
c.1691T>C (p.Ile564Thr)
c.1508T>C (p.Ile503Thr)
c.3740T>C (p.Ile1247Thr)
c.3692T>C (p.Ile1231Thr)
c.3461T>C (p.Ile1154Thr)
c.3362T>C (p.Ile1121Thr)
c.2543T>C (p.Ile848Thr)
n.4094T>C
13g.51937504A>TCA388021491ATP7Bc.*1525T>A (n.*1525T>A)
c.*2619T>A (n.*2619T>A)
c.3254T>A (p.Ile1085Asn)
c.3875T>A (p.Ile1292Asn)
c.3542T>A (p.Ile1181Asn)
c.3623T>A (p.Ile1208Asn)
n.1116T>A
c.3641T>A (p.Ile1214Asn)
n.4014T>A
n.741T>A
c.2810T>A (p.Ile937Asn)
c.2585T>A (p.Ile862Asn)
c.3680T>A (p.Ile1227Asn)
c.1653T>A
c.*976T>A (n.*976T>A)
n.4619T>A
n.3220T>A
c.3731T>A (p.Ile1244Asn)
c.3779T>A (p.Ile1260Asn)
c.3839T>A (p.Ile1280Asn)
c.3389T>A (p.Ile1130Asn)
c.1691T>A (p.Ile564Asn)
c.1508T>A (p.Ile503Asn)
c.3740T>A (p.Ile1247Asn)
c.3692T>A (p.Ile1231Asn)
c.3461T>A (p.Ile1154Asn)
c.3362T>A (p.Ile1121Asn)
c.2543T>A (p.Ile848Asn)
n.4094T>A
 gnomAD v4
13g.51937513_51937536delCA658823694ATP7Bc.*1502_*1525del (n.*1502_*1525del)
c.*2596_*2619del (n.*2596_*2619del)
c.3231_3254del (p.Gly1078_Ile1085del)
c.3852_3875del (p.Gly1285_Ile1292del)
c.3519_3542del (p.Gly1174_Ile1181del)
c.3600_3623del (p.Gly1201_Ile1208del)
n.1093_1116del
c.3618_3641del (p.Gly1207_Ile1214del)
n.3991_4014del
n.718_741del
c.2787_2810del (p.Gly930_Ile937del)
c.2562_2585del (p.Gly855_Ile862del)
c.3657_3680del (p.Gly1220_Ile1227del)
c.1630_1653del
c.*953_*976del (n.*953_*976del)
n.4596_4619del
n.3197_3220del
c.3708_3731del (p.Gly1237_Ile1244del)
c.3756_3779del (p.Gly1253_Ile1260del)
c.3816_3839del (p.Gly1273_Ile1280del)
c.3366_3389del (p.Gly1123_Ile1130del)
c.1668_1691del (p.Gly557_Ile564del)
c.1485_1508del (p.Gly496_Ile503del)
c.3717_3740del (p.Gly1240_Ile1247del)
c.3669_3692del (p.Gly1224_Ile1231del)
c.3438_3461del (p.Gly1147_Ile1154del)
c.3339_3362del (p.Gly1114_Ile1121del)
c.2520_2543del (p.Gly841_Ile848del)
n.4071_4094del
 ClinVar dbSNP gnomAD v4
13g.51937505T>ACA388021493ATP7Bc.*1524A>T (n.*1524A>T)
c.*2618A>T (n.*2618A>T)
c.3253A>T (p.Ile1085Phe)
c.3874A>T (p.Ile1292Phe)
c.3541A>T (p.Ile1181Phe)
c.3622A>T (p.Ile1208Phe)
n.1115A>T
c.3640A>T (p.Ile1214Phe)
n.4013A>T
n.740A>T
c.2809A>T (p.Ile937Phe)
c.2584A>T (p.Ile862Phe)
c.3679A>T (p.Ile1227Phe)
c.1652A>T
c.*975A>T (n.*975A>T)
n.4618A>T
n.3219A>T
c.3730A>T (p.Ile1244Phe)
c.3778A>T (p.Ile1260Phe)
c.3838A>T (p.Ile1280Phe)
c.3388A>T (p.Ile1130Phe)
c.1690A>T (p.Ile564Phe)
c.1507A>T (p.Ile503Phe)
c.3739A>T (p.Ile1247Phe)
c.3691A>T (p.Ile1231Phe)
c.3460A>T (p.Ile1154Phe)
c.3361A>T (p.Ile1121Phe)
c.2542A>T (p.Ile848Phe)
n.4093A>T
13g.51937505T>CCA6988553ATP7Bc.*1524A>G (n.*1524A>G)
c.*2618A>G (n.*2618A>G)
c.3253A>G (p.Ile1085Val)
c.3874A>G (p.Ile1292Val)
c.3541A>G (p.Ile1181Val)
c.3622A>G (p.Ile1208Val)
n.1115A>G
c.3640A>G (p.Ile1214Val)
n.4013A>G
n.740A>G
c.2809A>G (p.Ile937Val)
c.2584A>G (p.Ile862Val)
c.3679A>G (p.Ile1227Val)
c.1652A>G
c.*975A>G (n.*975A>G)
n.4618A>G
n.3219A>G
c.3730A>G (p.Ile1244Val)
c.3778A>G (p.Ile1260Val)
c.3838A>G (p.Ile1280Val)
c.3388A>G (p.Ile1130Val)
c.1690A>G (p.Ile564Val)
c.1507A>G (p.Ile503Val)
c.3739A>G (p.Ile1247Val)
c.3691A>G (p.Ile1231Val)
c.3460A>G (p.Ile1154Val)
c.3361A>G (p.Ile1121Val)
c.2542A>G (p.Ile848Val)
n.4093A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937505T>GCA388021497ATP7Bc.*1524A>C (n.*1524A>C)
c.*2618A>C (n.*2618A>C)
c.3253A>C (p.Ile1085Leu)
c.3874A>C (p.Ile1292Leu)
c.3541A>C (p.Ile1181Leu)
c.3622A>C (p.Ile1208Leu)
n.1115A>C
c.3640A>C (p.Ile1214Leu)
n.4013A>C
n.740A>C
c.2809A>C (p.Ile937Leu)
c.2584A>C (p.Ile862Leu)
c.3679A>C (p.Ile1227Leu)
c.1652A>C
c.*975A>C (n.*975A>C)
n.4618A>C
n.3219A>C
c.3730A>C (p.Ile1244Leu)
c.3778A>C (p.Ile1260Leu)
c.3838A>C (p.Ile1280Leu)
c.3388A>C (p.Ile1130Leu)
c.1690A>C (p.Ile564Leu)
c.1507A>C (p.Ile503Leu)
c.3739A>C (p.Ile1247Leu)
c.3691A>C (p.Ile1231Leu)
c.3460A>C (p.Ile1154Leu)
c.3361A>C (p.Ile1121Leu)
c.2542A>C (p.Ile848Leu)
n.4093A>C
13g.51937505T=CA2091553811ATP7Bc.*1524A= (n.*1524A=)
c.*2618A= (n.*2618A=)
c.3253A= (p.Ile1085=)
c.3874A= (p.Ile1292=)
c.3541A= (p.Ile1181=)
c.3622A= (p.Ile1208=)
n.1115A=
c.3640A= (p.Ile1214=)
n.4013A=
n.740A=
c.2809A= (p.Ile937=)
c.2584A= (p.Ile862=)
c.3679A= (p.Ile1227=)
c.1652A=
c.*975A= (n.*975A=)
n.4618A=
n.3219A=
c.3730A= (p.Ile1244=)
c.3778A= (p.Ile1260=)
c.3838A= (p.Ile1280=)
c.3388A= (p.Ile1130=)
c.1690A= (p.Ile564=)
c.1507A= (p.Ile503=)
c.3739A= (p.Ile1247=)
c.3691A= (p.Ile1231=)
c.3460A= (p.Ile1154=)
c.3361A= (p.Ile1121=)
c.2542A= (p.Ile848=)
n.4093A=
13g.51937506G>ACA484024284ATP7Bc.*1523C>T (n.*1523C>T)
c.*2617C>T (n.*2617C>T)
c.3252C>T (p.Ala1084=)
c.3873C>T (p.Ala1291=)
c.3540C>T (p.Ala1180=)
c.3621C>T (p.Ala1207=)
n.1114C>T
c.3639C>T (p.Ala1213=)
n.4012C>T
n.739C>T
c.2808C>T (p.Ala936=)
c.2583C>T (p.Ala861=)
c.3678C>T (p.Ala1226=)
c.1651C>T
c.*974C>T (n.*974C>T)
n.4617C>T
n.3218C>T
c.3729C>T (p.Ala1243=)
c.3777C>T (p.Ala1259=)
c.3837C>T (p.Ala1279=)
c.3387C>T (p.Ala1129=)
c.1689C>T (p.Ala563=)
c.1506C>T (p.Ala502=)
c.3738C>T (p.Ala1246=)
c.3690C>T (p.Ala1230=)
c.3459C>T (p.Ala1153=)
c.3360C>T (p.Ala1120=)
c.2541C>T (p.Ala847=)
n.4092C>T
13g.51937506G>CCA484024285ATP7Bc.*1523C>G (n.*1523C>G)
c.*2617C>G (n.*2617C>G)
c.3252C>G (p.Ala1084=)
c.3873C>G (p.Ala1291=)
c.3540C>G (p.Ala1180=)
c.3621C>G (p.Ala1207=)
n.1114C>G
c.3639C>G (p.Ala1213=)
n.4012C>G
n.739C>G
c.2808C>G (p.Ala936=)
c.2583C>G (p.Ala861=)
c.3678C>G (p.Ala1226=)
c.1651C>G
c.*974C>G (n.*974C>G)
n.4617C>G
n.3218C>G
c.3729C>G (p.Ala1243=)
c.3777C>G (p.Ala1259=)
c.3837C>G (p.Ala1279=)
c.3387C>G (p.Ala1129=)
c.1689C>G (p.Ala563=)
c.1506C>G (p.Ala502=)
c.3738C>G (p.Ala1246=)
c.3690C>G (p.Ala1230=)
c.3459C>G (p.Ala1153=)
c.3360C>G (p.Ala1120=)
c.2541C>G (p.Ala847=)
n.4092C>G
13g.51937506G>TCA484024286ATP7Bc.*1523C>A (n.*1523C>A)
c.*2617C>A (n.*2617C>A)
c.3252C>A (p.Ala1084=)
c.3873C>A (p.Ala1291=)
c.3540C>A (p.Ala1180=)
c.3621C>A (p.Ala1207=)
n.1114C>A
c.3639C>A (p.Ala1213=)
n.4012C>A
n.739C>A
c.2808C>A (p.Ala936=)
c.2583C>A (p.Ala861=)
c.3678C>A (p.Ala1226=)
c.1651C>A
c.*974C>A (n.*974C>A)
n.4617C>A
n.3218C>A
c.3729C>A (p.Ala1243=)
c.3777C>A (p.Ala1259=)
c.3837C>A (p.Ala1279=)
c.3387C>A (p.Ala1129=)
c.1689C>A (p.Ala563=)
c.1506C>A (p.Ala502=)
c.3738C>A (p.Ala1246=)
c.3690C>A (p.Ala1230=)
c.3459C>A (p.Ala1153=)
c.3360C>A (p.Ala1120=)
c.2541C>A (p.Ala847=)
n.4092C>A
13g.51937507G>ACA388021501ATP7Bc.*1522C>T (n.*1522C>T)
c.*2616C>T (n.*2616C>T)
c.3251C>T (p.Ala1084Val)
c.3872C>T (p.Ala1291Val)
c.3539C>T (p.Ala1180Val)
c.3620C>T (p.Ala1207Val)
n.1113C>T
c.3638C>T (p.Ala1213Val)
n.4011C>T
n.738C>T
c.2807C>T (p.Ala936Val)
c.2582C>T (p.Ala861Val)
c.3677C>T (p.Ala1226Val)
c.1650C>T
c.*973C>T (n.*973C>T)
n.4616C>T
n.3217C>T
c.3728C>T (p.Ala1243Val)
c.3776C>T (p.Ala1259Val)
c.3836C>T (p.Ala1279Val)
c.3386C>T (p.Ala1129Val)
c.1688C>T (p.Ala563Val)
c.1505C>T (p.Ala502Val)
c.3737C>T (p.Ala1246Val)
c.3689C>T (p.Ala1230Val)
c.3458C>T (p.Ala1153Val)
c.3359C>T (p.Ala1120Val)
c.2540C>T (p.Ala847Val)
n.4091C>T
13g.51937507G>CCA388021503ATP7Bc.*1522C>G (n.*1522C>G)
c.*2616C>G (n.*2616C>G)
c.3251C>G (p.Ala1084Gly)
c.3872C>G (p.Ala1291Gly)
c.3539C>G (p.Ala1180Gly)
c.3620C>G (p.Ala1207Gly)
n.1113C>G
c.3638C>G (p.Ala1213Gly)
n.4011C>G
n.738C>G
c.2807C>G (p.Ala936Gly)
c.2582C>G (p.Ala861Gly)
c.3677C>G (p.Ala1226Gly)
c.1650C>G
c.*973C>G (n.*973C>G)
n.4616C>G
n.3217C>G
c.3728C>G (p.Ala1243Gly)
c.3776C>G (p.Ala1259Gly)
c.3836C>G (p.Ala1279Gly)
c.3386C>G (p.Ala1129Gly)
c.1688C>G (p.Ala563Gly)
c.1505C>G (p.Ala502Gly)
c.3737C>G (p.Ala1246Gly)
c.3689C>G (p.Ala1230Gly)
c.3458C>G (p.Ala1153Gly)
c.3359C>G (p.Ala1120Gly)
c.2540C>G (p.Ala847Gly)
n.4091C>G
13g.51937507G>TCA388021505ATP7Bc.*1522C>A (n.*1522C>A)
c.*2616C>A (n.*2616C>A)
c.3251C>A (p.Ala1084Asp)
c.3872C>A (p.Ala1291Asp)
c.3539C>A (p.Ala1180Asp)
c.3620C>A (p.Ala1207Asp)
n.1113C>A
c.3638C>A (p.Ala1213Asp)
n.4011C>A
n.738C>A
c.2807C>A (p.Ala936Asp)
c.2582C>A (p.Ala861Asp)
c.3677C>A (p.Ala1226Asp)
c.1650C>A
c.*973C>A (n.*973C>A)
n.4616C>A
n.3217C>A
c.3728C>A (p.Ala1243Asp)
c.3776C>A (p.Ala1259Asp)
c.3836C>A (p.Ala1279Asp)
c.3386C>A (p.Ala1129Asp)
c.1688C>A (p.Ala563Asp)
c.1505C>A (p.Ala502Asp)
c.3737C>A (p.Ala1246Asp)
c.3689C>A (p.Ala1230Asp)
c.3458C>A (p.Ala1153Asp)
c.3359C>A (p.Ala1120Asp)
c.2540C>A (p.Ala847Asp)
n.4091C>A
13g.51937508C>ACA388021508ATP7Bc.*1521G>T (n.*1521G>T)
c.*2615G>T (n.*2615G>T)
c.3250G>T (p.Ala1084Ser)
c.3871G>T (p.Ala1291Ser)
c.3538G>T (p.Ala1180Ser)
c.3619G>T (p.Ala1207Ser)
n.1112G>T
c.3637G>T (p.Ala1213Ser)
n.4010G>T
n.737G>T
c.2806G>T (p.Ala936Ser)
c.2581G>T (p.Ala861Ser)
c.3676G>T (p.Ala1226Ser)
c.1649G>T
c.*972G>T (n.*972G>T)
n.4615G>T
n.3216G>T
c.3727G>T (p.Ala1243Ser)
c.3775G>T (p.Ala1259Ser)
c.3835G>T (p.Ala1279Ser)
c.3385G>T (p.Ala1129Ser)
c.1687G>T (p.Ala563Ser)
c.1504G>T (p.Ala502Ser)
c.3736G>T (p.Ala1246Ser)
c.3688G>T (p.Ala1230Ser)
c.3457G>T (p.Ala1153Ser)
c.3358G>T (p.Ala1120Ser)
c.2539G>T (p.Ala847Ser)
n.4090G>T
 gnomAD v4
13g.51937508C>GCA388021511ATP7Bc.*1521G>C (n.*1521G>C)
c.*2615G>C (n.*2615G>C)
c.3250G>C (p.Ala1084Pro)
c.3871G>C (p.Ala1291Pro)
c.3538G>C (p.Ala1180Pro)
c.3619G>C (p.Ala1207Pro)
n.1112G>C
c.3637G>C (p.Ala1213Pro)
n.4010G>C
n.737G>C
c.2806G>C (p.Ala936Pro)
c.2581G>C (p.Ala861Pro)
c.3676G>C (p.Ala1226Pro)
c.1649G>C
c.*972G>C (n.*972G>C)
n.4615G>C
n.3216G>C
c.3727G>C (p.Ala1243Pro)
c.3775G>C (p.Ala1259Pro)
c.3835G>C (p.Ala1279Pro)
c.3385G>C (p.Ala1129Pro)
c.1687G>C (p.Ala563Pro)
c.1504G>C (p.Ala502Pro)
c.3736G>C (p.Ala1246Pro)
c.3688G>C (p.Ala1230Pro)
c.3457G>C (p.Ala1153Pro)
c.3358G>C (p.Ala1120Pro)
c.2539G>C (p.Ala847Pro)
n.4090G>C
13g.51937508C>TCA388021519ATP7Bc.*1521G>A (n.*1521G>A)
c.*2615G>A (n.*2615G>A)
c.3250G>A (p.Ala1084Thr)
c.3871G>A (p.Ala1291Thr)
c.3538G>A (p.Ala1180Thr)
c.3619G>A (p.Ala1207Thr)
n.1112G>A
c.3637G>A (p.Ala1213Thr)
n.4010G>A
n.737G>A
c.2806G>A (p.Ala936Thr)
c.2581G>A (p.Ala861Thr)
c.3676G>A (p.Ala1226Thr)
c.1649G>A
c.*972G>A (n.*972G>A)
n.4615G>A
n.3216G>A
c.3727G>A (p.Ala1243Thr)
c.3775G>A (p.Ala1259Thr)
c.3835G>A (p.Ala1279Thr)
c.3385G>A (p.Ala1129Thr)
c.1687G>A (p.Ala563Thr)
c.1504G>A (p.Ala502Thr)
c.3736G>A (p.Ala1246Thr)
c.3688G>A (p.Ala1230Thr)
c.3457G>A (p.Ala1153Thr)
c.3358G>A (p.Ala1120Thr)
c.2539G>A (p.Ala847Thr)
n.4090G>A
13g.51937509delCA2695218751ATP7Bc.*1521del (n.*1521del)
c.*2615del (n.*2615del)
c.3250del (p.Ala1084ProfsTer?)
c.3871del (p.Ala1291ProfsTer?)
c.3538del (p.Ala1180ProfsTer?)
c.3619del (p.Ala1207ProfsTer?)
n.1112del
c.3637del (p.Ala1213ProfsTer?)
n.4010del
n.737del
c.2806del (p.Ala936ProfsTer?)
c.2581del (p.Ala861ProfsTer?)
c.3676del (p.Ala1226ProfsTer?)
c.1649del
c.*972del (n.*972del)
n.4615del
n.3216del
c.3727del (p.Ala1243ProfsTer?)
c.3775del (p.Ala1259ProfsTer?)
c.3835del (p.Ala1279ProfsTer?)
c.3385del (p.Ala1129ProfsTer?)
c.1687del (p.Ala563ProfsTer?)
c.1504del (p.Ala502ProfsTer?)
c.3736del (p.Ala1246ProfsTer?)
c.3688del (p.Ala1230ProfsTer?)
c.3457del (p.Ala1153ProfsTer?)
c.3358del (p.Ala1120ProfsTer?)
c.2539del (p.Ala847ProfsTer?)
n.4090del
13g.51937509C>ACA484024288ATP7Bc.*1520G>T (n.*1520G>T)
c.*2614G>T (n.*2614G>T)
c.3249G>T (p.Val1083=)
c.3870G>T (p.Val1290=)
c.3537G>T (p.Val1179=)
c.3618G>T (p.Val1206=)
n.1111G>T
c.3636G>T (p.Val1212=)
n.4009G>T
n.736G>T
c.2805G>T (p.Val935=)
c.2580G>T (p.Val860=)
c.3675G>T (p.Val1225=)
c.1648G>T
c.*971G>T (n.*971G>T)
n.4614G>T
n.3215G>T
c.3726G>T (p.Val1242=)
c.3774G>T (p.Val1258=)
c.3834G>T (p.Val1278=)
c.3384G>T (p.Val1128=)
c.1686G>T (p.Val562=)
c.1503G>T (p.Val501=)
c.3735G>T (p.Val1245=)
c.3687G>T (p.Val1229=)
c.3456G>T (p.Val1152=)
c.3357G>T (p.Val1119=)
c.2538G>T (p.Val846=)
n.4089G>T
13g.51937509C>GCA484024289ATP7Bc.*1520G>C (n.*1520G>C)
c.*2614G>C (n.*2614G>C)
c.3249G>C (p.Val1083=)
c.3870G>C (p.Val1290=)
c.3537G>C (p.Val1179=)
c.3618G>C (p.Val1206=)
n.1111G>C
c.3636G>C (p.Val1212=)
n.4009G>C
n.736G>C
c.2805G>C (p.Val935=)
c.2580G>C (p.Val860=)
c.3675G>C (p.Val1225=)
c.1648G>C
c.*971G>C (n.*971G>C)
n.4614G>C
n.3215G>C
c.3726G>C (p.Val1242=)
c.3774G>C (p.Val1258=)
c.3834G>C (p.Val1278=)
c.3384G>C (p.Val1128=)
c.1686G>C (p.Val562=)
c.1503G>C (p.Val501=)
c.3735G>C (p.Val1245=)
c.3687G>C (p.Val1229=)
c.3456G>C (p.Val1152=)
c.3357G>C (p.Val1119=)
c.2538G>C (p.Val846=)
n.4089G>C
 ClinVar dbSNP
13g.51937509C>TCA484024287ATP7Bc.*1520G>A (n.*1520G>A)
c.*2614G>A (n.*2614G>A)
c.3249G>A (p.Val1083=)
c.3870G>A (p.Val1290=)
c.3537G>A (p.Val1179=)
c.3618G>A (p.Val1206=)
n.1111G>A
c.3636G>A (p.Val1212=)
n.4009G>A
n.736G>A
c.2805G>A (p.Val935=)
c.2580G>A (p.Val860=)
c.3675G>A (p.Val1225=)
c.1648G>A
c.*971G>A (n.*971G>A)
n.4614G>A
n.3215G>A
c.3726G>A (p.Val1242=)
c.3774G>A (p.Val1258=)
c.3834G>A (p.Val1278=)
c.3384G>A (p.Val1128=)
c.1686G>A (p.Val562=)
c.1503G>A (p.Val501=)
c.3735G>A (p.Val1245=)
c.3687G>A (p.Val1229=)
c.3456G>A (p.Val1152=)
c.3357G>A (p.Val1119=)
c.2538G>A (p.Val846=)
n.4089G>A
 gnomAD v4
13g.51937510A>CCA388021526ATP7Bc.*1519T>G (n.*1519T>G)
c.*2613T>G (n.*2613T>G)
c.3248T>G (p.Val1083Gly)
c.3869T>G (p.Val1290Gly)
c.3536T>G (p.Val1179Gly)
c.3617T>G (p.Val1206Gly)
n.1110T>G
c.3635T>G (p.Val1212Gly)
n.4008T>G
n.735T>G
c.2804T>G (p.Val935Gly)
c.2579T>G (p.Val860Gly)
c.3674T>G (p.Val1225Gly)
c.1647T>G
c.*970T>G (n.*970T>G)
n.4613T>G
n.3214T>G
c.3725T>G (p.Val1242Gly)
c.3773T>G (p.Val1258Gly)
c.3833T>G (p.Val1278Gly)
c.3383T>G (p.Val1128Gly)
c.1685T>G (p.Val562Gly)
c.1502T>G (p.Val501Gly)
c.3734T>G (p.Val1245Gly)
c.3686T>G (p.Val1229Gly)
c.3455T>G (p.Val1152Gly)
c.3356T>G (p.Val1119Gly)
c.2537T>G (p.Val846Gly)
n.4088T>G
13g.51937510A>GCA388021539ATP7Bc.*1519T>C (n.*1519T>C)
c.*2613T>C (n.*2613T>C)
c.3248T>C (p.Val1083Ala)
c.3869T>C (p.Val1290Ala)
c.3536T>C (p.Val1179Ala)
c.3617T>C (p.Val1206Ala)
n.1110T>C
c.3635T>C (p.Val1212Ala)
n.4008T>C
n.735T>C
c.2804T>C (p.Val935Ala)
c.2579T>C (p.Val860Ala)
c.3674T>C (p.Val1225Ala)
c.1647T>C
c.*970T>C (n.*970T>C)
n.4613T>C
n.3214T>C
c.3725T>C (p.Val1242Ala)
c.3773T>C (p.Val1258Ala)
c.3833T>C (p.Val1278Ala)
c.3383T>C (p.Val1128Ala)
c.1685T>C (p.Val562Ala)
c.1502T>C (p.Val501Ala)
c.3734T>C (p.Val1245Ala)
c.3686T>C (p.Val1229Ala)
c.3455T>C (p.Val1152Ala)
c.3356T>C (p.Val1119Ala)
c.2537T>C (p.Val846Ala)
n.4088T>C
 gnomAD v4
13g.51937510A>TCA388021524ATP7Bc.*1519T>A (n.*1519T>A)
c.*2613T>A (n.*2613T>A)
c.3248T>A (p.Val1083Glu)
c.3869T>A (p.Val1290Glu)
c.3536T>A (p.Val1179Glu)
c.3617T>A (p.Val1206Glu)
n.1110T>A
c.3635T>A (p.Val1212Glu)
n.4008T>A
n.735T>A
c.2804T>A (p.Val935Glu)
c.2579T>A (p.Val860Glu)
c.3674T>A (p.Val1225Glu)
c.1647T>A
c.*970T>A (n.*970T>A)
n.4613T>A
n.3214T>A
c.3725T>A (p.Val1242Glu)
c.3773T>A (p.Val1258Glu)
c.3833T>A (p.Val1278Glu)
c.3383T>A (p.Val1128Glu)
c.1685T>A (p.Val562Glu)
c.1502T>A (p.Val501Glu)
c.3734T>A (p.Val1245Glu)
c.3686T>A (p.Val1229Glu)
c.3455T>A (p.Val1152Glu)
c.3356T>A (p.Val1119Glu)
c.2537T>A (p.Val846Glu)
n.4088T>A
13g.51937511delCA2623119285ATP7Bc.*1518del (n.*1518del)
c.*2612del (n.*2612del)
c.3247del (p.Val1083TrpfsTer?)
c.3868del (p.Val1290TrpfsTer?)
c.3535del (p.Val1179TrpfsTer?)
c.3616del (p.Val1206TrpfsTer?)
n.1109del
c.3634del (p.Val1212TrpfsTer?)
n.4007del
n.734del
c.2803del (p.Val935TrpfsTer?)
c.2578del (p.Val860TrpfsTer?)
c.3673del (p.Val1225TrpfsTer?)
c.1646del
c.*969del (n.*969del)
n.4612del
n.3213del
c.3724del (p.Val1242TrpfsTer?)
c.3772del (p.Val1258TrpfsTer?)
c.3832del (p.Val1278TrpfsTer?)
c.3382del (p.Val1128TrpfsTer?)
c.1684del (p.Val562TrpfsTer?)
c.1501del (p.Val501TrpfsTer?)
c.3733del (p.Val1245TrpfsTer?)
c.3685del (p.Val1229TrpfsTer?)
c.3454del (p.Val1152TrpfsTer?)
c.3355del (p.Val1119TrpfsTer?)
c.2536del (p.Val846TrpfsTer?)
n.4087del
 gnomAD v4
13g.51937511C>ACA388021542ATP7Bc.*1518G>T (n.*1518G>T)
c.*2612G>T (n.*2612G>T)
c.3247G>T (p.Val1083Leu)
c.3868G>T (p.Val1290Leu)
c.3535G>T (p.Val1179Leu)
c.3616G>T (p.Val1206Leu)
n.1109G>T
c.3634G>T (p.Val1212Leu)
n.4007G>T
n.734G>T
c.2803G>T (p.Val935Leu)
c.2578G>T (p.Val860Leu)
c.3673G>T (p.Val1225Leu)
c.1646G>T
c.*969G>T (n.*969G>T)
n.4612G>T
n.3213G>T
c.3724G>T (p.Val1242Leu)
c.3772G>T (p.Val1258Leu)
c.3832G>T (p.Val1278Leu)
c.3382G>T (p.Val1128Leu)
c.1684G>T (p.Val562Leu)
c.1501G>T (p.Val501Leu)
c.3733G>T (p.Val1245Leu)
c.3685G>T (p.Val1229Leu)
c.3454G>T (p.Val1152Leu)
c.3355G>T (p.Val1119Leu)
c.2536G>T (p.Val846Leu)
n.4087G>T
 gnomAD v4
13g.51937511C>GCA388021546ATP7Bc.*1518G>C (n.*1518G>C)
c.*2612G>C (n.*2612G>C)
c.3247G>C (p.Val1083Leu)
c.3868G>C (p.Val1290Leu)
c.3535G>C (p.Val1179Leu)
c.3616G>C (p.Val1206Leu)
n.1109G>C
c.3634G>C (p.Val1212Leu)
n.4007G>C
n.734G>C
c.2803G>C (p.Val935Leu)
c.2578G>C (p.Val860Leu)
c.3673G>C (p.Val1225Leu)
c.1646G>C
c.*969G>C (n.*969G>C)
n.4612G>C
n.3213G>C
c.3724G>C (p.Val1242Leu)
c.3772G>C (p.Val1258Leu)
c.3832G>C (p.Val1278Leu)
c.3382G>C (p.Val1128Leu)
c.1684G>C (p.Val562Leu)
c.1501G>C (p.Val501Leu)
c.3733G>C (p.Val1245Leu)
c.3685G>C (p.Val1229Leu)
c.3454G>C (p.Val1152Leu)
c.3355G>C (p.Val1119Leu)
c.2536G>C (p.Val846Leu)
n.4087G>C
13g.51937511C>TCA388021543ATP7Bc.*1518G>A (n.*1518G>A)
c.*2612G>A (n.*2612G>A)
c.3247G>A (p.Val1083Met)
c.3868G>A (p.Val1290Met)
c.3535G>A (p.Val1179Met)
c.3616G>A (p.Val1206Met)
n.1109G>A
c.3634G>A (p.Val1212Met)
n.4007G>A
n.734G>A
c.2803G>A (p.Val935Met)
c.2578G>A (p.Val860Met)
c.3673G>A (p.Val1225Met)
c.1646G>A
c.*969G>A (n.*969G>A)
n.4612G>A
n.3213G>A
c.3724G>A (p.Val1242Met)
c.3772G>A (p.Val1258Met)
c.3832G>A (p.Val1278Met)
c.3382G>A (p.Val1128Met)
c.1684G>A (p.Val562Met)
c.1501G>A (p.Val501Met)
c.3733G>A (p.Val1245Met)
c.3685G>A (p.Val1229Met)
c.3454G>A (p.Val1152Met)
c.3355G>A (p.Val1119Met)
c.2536G>A (p.Val846Met)
n.4087G>A
 gnomAD v4
13g.51937512A>CCA388021549ATP7Bc.*1517T>G (n.*1517T>G)
c.*2611T>G (n.*2611T>G)
c.3246T>G (p.Asp1082Glu)
c.3867T>G (p.Asp1289Glu)
c.3534T>G (p.Asp1178Glu)
c.3615T>G (p.Asp1205Glu)
n.1108T>G
c.3633T>G (p.Asp1211Glu)
n.4006T>G
n.733T>G
c.2802T>G (p.Asp934Glu)
c.2577T>G (p.Asp859Glu)
c.3672T>G (p.Asp1224Glu)
c.1645T>G
c.*968T>G (n.*968T>G)
n.4611T>G
n.3212T>G
c.3723T>G (p.Asp1241Glu)
c.3771T>G (p.Asp1257Glu)
c.3831T>G (p.Asp1277Glu)
c.3381T>G (p.Asp1127Glu)
c.1683T>G (p.Asp561Glu)
c.1500T>G (p.Asp500Glu)
c.3732T>G (p.Asp1244Glu)
c.3684T>G (p.Asp1228Glu)
c.3453T>G (p.Asp1151Glu)
c.3354T>G (p.Asp1118Glu)
c.2535T>G (p.Asp845Glu)
n.4086T>G
13g.51937512A>GCA484024290ATP7Bc.*1517T>C (n.*1517T>C)
c.*2611T>C (n.*2611T>C)
c.3246T>C (p.Asp1082=)
c.3867T>C (p.Asp1289=)
c.3534T>C (p.Asp1178=)
c.3615T>C (p.Asp1205=)
n.1108T>C
c.3633T>C (p.Asp1211=)
n.4006T>C
n.733T>C
c.2802T>C (p.Asp934=)
c.2577T>C (p.Asp859=)
c.3672T>C (p.Asp1224=)
c.1645T>C
c.*968T>C (n.*968T>C)
n.4611T>C
n.3212T>C
c.3723T>C (p.Asp1241=)
c.3771T>C (p.Asp1257=)
c.3831T>C (p.Asp1277=)
c.3381T>C (p.Asp1127=)
c.1683T>C (p.Asp561=)
c.1500T>C (p.Asp500=)
c.3732T>C (p.Asp1244=)
c.3684T>C (p.Asp1228=)
c.3453T>C (p.Asp1151=)
c.3354T>C (p.Asp1118=)
c.2535T>C (p.Asp845=)
n.4086T>C
 dbSNP
13g.51937512A>TCA388021550ATP7Bc.*1517T>A (n.*1517T>A)
c.*2611T>A (n.*2611T>A)
c.3246T>A (p.Asp1082Glu)
c.3867T>A (p.Asp1289Glu)
c.3534T>A (p.Asp1178Glu)
c.3615T>A (p.Asp1205Glu)
n.1108T>A
c.3633T>A (p.Asp1211Glu)
n.4006T>A
n.733T>A
c.2802T>A (p.Asp934Glu)
c.2577T>A (p.Asp859Glu)
c.3672T>A (p.Asp1224Glu)
c.1645T>A
c.*968T>A (n.*968T>A)
n.4611T>A
n.3212T>A
c.3723T>A (p.Asp1241Glu)
c.3771T>A (p.Asp1257Glu)
c.3831T>A (p.Asp1277Glu)
c.3381T>A (p.Asp1127Glu)
c.1683T>A (p.Asp561Glu)
c.1500T>A (p.Asp500Glu)
c.3732T>A (p.Asp1244Glu)
c.3684T>A (p.Asp1228Glu)
c.3453T>A (p.Asp1151Glu)
c.3354T>A (p.Asp1118Glu)
c.2535T>A (p.Asp845Glu)
n.4086T>A
 gnomAD v4
13g.51937513T>ACA388021551ATP7Bc.*1516A>T (n.*1516A>T)
c.*2610A>T (n.*2610A>T)
c.3245A>T (p.Asp1082Val)
c.3866A>T (p.Asp1289Val)
c.3533A>T (p.Asp1178Val)
c.3614A>T (p.Asp1205Val)
n.1107A>T
c.3632A>T (p.Asp1211Val)
n.4005A>T
n.732A>T
c.2801A>T (p.Asp934Val)
c.2576A>T (p.Asp859Val)
c.3671A>T (p.Asp1224Val)
c.1644A>T
c.*967A>T (n.*967A>T)
n.4610A>T
n.3211A>T
c.3722A>T (p.Asp1241Val)
c.3770A>T (p.Asp1257Val)
c.3830A>T (p.Asp1277Val)
c.3380A>T (p.Asp1127Val)
c.1682A>T (p.Asp561Val)
c.1499A>T (p.Asp500Val)
c.3731A>T (p.Asp1244Val)
c.3683A>T (p.Asp1228Val)
c.3452A>T (p.Asp1151Val)
c.3353A>T (p.Asp1118Val)
c.2534A>T (p.Asp845Val)
n.4085A>T
 dbSNP gnomAD v3 gnomAD v4
13g.51937513T>CCA388021552ATP7Bc.*1516A>G (n.*1516A>G)
c.*2610A>G (n.*2610A>G)
c.3245A>G (p.Asp1082Gly)
c.3866A>G (p.Asp1289Gly)
c.3533A>G (p.Asp1178Gly)
c.3614A>G (p.Asp1205Gly)
n.1107A>G
c.3632A>G (p.Asp1211Gly)
n.4005A>G
n.732A>G
c.2801A>G (p.Asp934Gly)
c.2576A>G (p.Asp859Gly)
c.3671A>G (p.Asp1224Gly)
c.1644A>G
c.*967A>G (n.*967A>G)
n.4610A>G
n.3211A>G
c.3722A>G (p.Asp1241Gly)
c.3770A>G (p.Asp1257Gly)
c.3830A>G (p.Asp1277Gly)
c.3380A>G (p.Asp1127Gly)
c.1682A>G (p.Asp561Gly)
c.1499A>G (p.Asp500Gly)
c.3731A>G (p.Asp1244Gly)
c.3683A>G (p.Asp1228Gly)
c.3452A>G (p.Asp1151Gly)
c.3353A>G (p.Asp1118Gly)
c.2534A>G (p.Asp845Gly)
n.4085A>G
 dbSNP gnomAD v4
13g.51937513T>GCA388021553ATP7Bc.*1516A>C (n.*1516A>C)
c.*2610A>C (n.*2610A>C)
c.3245A>C (p.Asp1082Ala)
c.3866A>C (p.Asp1289Ala)
c.3533A>C (p.Asp1178Ala)
c.3614A>C (p.Asp1205Ala)
n.1107A>C
c.3632A>C (p.Asp1211Ala)
n.4005A>C
n.732A>C
c.2801A>C (p.Asp934Ala)
c.2576A>C (p.Asp859Ala)
c.3671A>C (p.Asp1224Ala)
c.1644A>C
c.*967A>C (n.*967A>C)
n.4610A>C
n.3211A>C
c.3722A>C (p.Asp1241Ala)
c.3770A>C (p.Asp1257Ala)
c.3830A>C (p.Asp1277Ala)
c.3380A>C (p.Asp1127Ala)
c.1682A>C (p.Asp561Ala)
c.1499A>C (p.Asp500Ala)
c.3731A>C (p.Asp1244Ala)
c.3683A>C (p.Asp1228Ala)
c.3452A>C (p.Asp1151Ala)
c.3353A>C (p.Asp1118Ala)
c.2534A>C (p.Asp845Ala)
n.4085A>C
13g.51937513T=CA2091553817ATP7Bc.*1516A= (n.*1516A=)
c.*2610A= (n.*2610A=)
c.3245A= (p.Asp1082=)
c.3866A= (p.Asp1289=)
c.3533A= (p.Asp1178=)
c.3614A= (p.Asp1205=)
n.1107A=
c.3632A= (p.Asp1211=)
n.4005A=
n.732A=
c.2801A= (p.Asp934=)
c.2576A= (p.Asp859=)
c.3671A= (p.Asp1224=)
c.1644A=
c.*967A= (n.*967A=)
n.4610A=
n.3211A=
c.3722A= (p.Asp1241=)
c.3770A= (p.Asp1257=)
c.3830A= (p.Asp1277=)
c.3380A= (p.Asp1127=)
c.1682A= (p.Asp561=)
c.1499A= (p.Asp500=)
c.3731A= (p.Asp1244=)
c.3683A= (p.Asp1228=)
c.3452A= (p.Asp1151=)
c.3353A= (p.Asp1118=)
c.2534A= (p.Asp845=)
n.4085A=
13g.51937514C>ACA388021555ATP7Bc.*1515G>T (n.*1515G>T)
c.*2609G>T (n.*2609G>T)
c.3244G>T (p.Asp1082Tyr)
c.3865G>T (p.Asp1289Tyr)
c.3532G>T (p.Asp1178Tyr)
c.3613G>T (p.Asp1205Tyr)
n.1106G>T
c.3631G>T (p.Asp1211Tyr)
n.4004G>T
n.731G>T
c.2800G>T (p.Asp934Tyr)
c.2575G>T (p.Asp859Tyr)
c.3670G>T (p.Asp1224Tyr)
c.1643G>T
c.*966G>T (n.*966G>T)
n.4609G>T
n.3210G>T
c.3721G>T (p.Asp1241Tyr)
c.3769G>T (p.Asp1257Tyr)
c.3829G>T (p.Asp1277Tyr)
c.3379G>T (p.Asp1127Tyr)
c.1681G>T (p.Asp561Tyr)
c.1498G>T (p.Asp500Tyr)
c.3730G>T (p.Asp1244Tyr)
c.3682G>T (p.Asp1228Tyr)
c.3451G>T (p.Asp1151Tyr)
c.3352G>T (p.Asp1118Tyr)
c.2533G>T (p.Asp845Tyr)
n.4084G>T
 dbSNP gnomAD v3 gnomAD v4
13g.51937514C>GCA388021557ATP7Bc.*1515G>C (n.*1515G>C)
c.*2609G>C (n.*2609G>C)
c.3244G>C (p.Asp1082His)
c.3865G>C (p.Asp1289His)
c.3532G>C (p.Asp1178His)
c.3613G>C (p.Asp1205His)
n.1106G>C
c.3631G>C (p.Asp1211His)
n.4004G>C
n.731G>C
c.2800G>C (p.Asp934His)
c.2575G>C (p.Asp859His)
c.3670G>C (p.Asp1224His)
c.1643G>C
c.*966G>C (n.*966G>C)
n.4609G>C
n.3210G>C
c.3721G>C (p.Asp1241His)
c.3769G>C (p.Asp1257His)
c.3829G>C (p.Asp1277His)
c.3379G>C (p.Asp1127His)
c.1681G>C (p.Asp561His)
c.1498G>C (p.Asp500His)
c.3730G>C (p.Asp1244His)
c.3682G>C (p.Asp1228His)
c.3451G>C (p.Asp1151His)
c.3352G>C (p.Asp1118His)
c.2533G>C (p.Asp845His)
n.4084G>C
13g.51937514C>TCA388021560ATP7Bc.*1515G>A (n.*1515G>A)
c.*2609G>A (n.*2609G>A)
c.3244G>A (p.Asp1082Asn)
c.3865G>A (p.Asp1289Asn)
c.3532G>A (p.Asp1178Asn)
c.3613G>A (p.Asp1205Asn)
n.1106G>A
c.3631G>A (p.Asp1211Asn)
n.4004G>A
n.731G>A
c.2800G>A (p.Asp934Asn)
c.2575G>A (p.Asp859Asn)
c.3670G>A (p.Asp1224Asn)
c.1643G>A
c.*966G>A (n.*966G>A)
n.4609G>A
n.3210G>A
c.3721G>A (p.Asp1241Asn)
c.3769G>A (p.Asp1257Asn)
c.3829G>A (p.Asp1277Asn)
c.3379G>A (p.Asp1127Asn)
c.1681G>A (p.Asp561Asn)
c.1498G>A (p.Asp500Asn)
c.3730G>A (p.Asp1244Asn)
c.3682G>A (p.Asp1228Asn)
c.3451G>A (p.Asp1151Asn)
c.3352G>A (p.Asp1118Asn)
c.2533G>A (p.Asp845Asn)
n.4084G>A
13g.51937515C>ACA484024291ATP7Bc.*1514G>T (n.*1514G>T)
c.*2608G>T (n.*2608G>T)
c.3243G>T (p.Thr1081=)
c.3864G>T (p.Thr1288=)
c.3531G>T (p.Thr1177=)
c.3612G>T (p.Thr1204=)
n.1105G>T
c.3630G>T (p.Thr1210=)
n.4003G>T
n.730G>T
c.2799G>T (p.Thr933=)
c.2574G>T (p.Thr858=)
c.3669G>T (p.Thr1223=)
c.1642G>T
c.*965G>T (n.*965G>T)
n.4608G>T
n.3209G>T
c.3720G>T (p.Thr1240=)
c.3768G>T (p.Thr1256=)
c.3828G>T (p.Thr1276=)
c.3378G>T (p.Thr1126=)
c.1680G>T (p.Thr560=)
c.1497G>T (p.Thr499=)
c.3729G>T (p.Thr1243=)
c.3681G>T (p.Thr1227=)
c.3450G>T (p.Thr1150=)
c.3351G>T (p.Thr1117=)
c.2532G>T (p.Thr844=)
n.4083G>T
13g.51937515C=CA2091553822ATP7Bc.*1514G= (n.*1514G=)
c.*2608G= (n.*2608G=)
c.3243G= (p.Thr1081=)
c.3864G= (p.Thr1288=)
c.3531G= (p.Thr1177=)
c.3612G= (p.Thr1204=)
n.1105G=
c.3630G= (p.Thr1210=)
n.4003G=
n.730G=
c.2799G= (p.Thr933=)
c.2574G= (p.Thr858=)
c.3669G= (p.Thr1223=)
c.1642G=
c.*965G= (n.*965G=)
n.4608G=
n.3209G=
c.3720G= (p.Thr1240=)
c.3768G= (p.Thr1256=)
c.3828G= (p.Thr1276=)
c.3378G= (p.Thr1126=)
c.1680G= (p.Thr560=)
c.1497G= (p.Thr499=)
c.3729G= (p.Thr1243=)
c.3681G= (p.Thr1227=)
c.3450G= (p.Thr1150=)
c.3351G= (p.Thr1117=)
c.2532G= (p.Thr844=)
n.4083G=
13g.51937515C>GCA484024292ATP7Bc.*1514G>C (n.*1514G>C)
c.*2608G>C (n.*2608G>C)
c.3243G>C (p.Thr1081=)
c.3864G>C (p.Thr1288=)
c.3531G>C (p.Thr1177=)
c.3612G>C (p.Thr1204=)
n.1105G>C
c.3630G>C (p.Thr1210=)
n.4003G>C
n.730G>C
c.2799G>C (p.Thr933=)
c.2574G>C (p.Thr858=)
c.3669G>C (p.Thr1223=)
c.1642G>C
c.*965G>C (n.*965G>C)
n.4608G>C
n.3209G>C
c.3720G>C (p.Thr1240=)
c.3768G>C (p.Thr1256=)
c.3828G>C (p.Thr1276=)
c.3378G>C (p.Thr1126=)
c.1680G>C (p.Thr560=)
c.1497G>C (p.Thr499=)
c.3729G>C (p.Thr1243=)
c.3681G>C (p.Thr1227=)
c.3450G>C (p.Thr1150=)
c.3351G>C (p.Thr1117=)
c.2532G>C (p.Thr844=)
n.4083G>C
13g.51937515C>TCA6988554ATP7Bc.*1514G>A (n.*1514G>A)
c.*2608G>A (n.*2608G>A)
c.3243G>A (p.Thr1081=)
c.3864G>A (p.Thr1288=)
c.3531G>A (p.Thr1177=)
c.3612G>A (p.Thr1204=)
n.1105G>A
c.3630G>A (p.Thr1210=)
n.4003G>A
n.730G>A
c.2799G>A (p.Thr933=)
c.2574G>A (p.Thr858=)
c.3669G>A (p.Thr1223=)
c.1642G>A
c.*965G>A (n.*965G>A)
n.4608G>A
n.3209G>A
c.3720G>A (p.Thr1240=)
c.3768G>A (p.Thr1256=)
c.3828G>A (p.Thr1276=)
c.3378G>A (p.Thr1126=)
c.1680G>A (p.Thr560=)
c.1497G>A (p.Thr499=)
c.3729G>A (p.Thr1243=)
c.3681G>A (p.Thr1227=)
c.3450G>A (p.Thr1150=)
c.3351G>A (p.Thr1117=)
c.2532G>A (p.Thr844=)
n.4083G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51937516G>ACA6988555ATP7Bc.*1513C>T (n.*1513C>T)
c.*2607C>T (n.*2607C>T)
c.3242C>T (p.Thr1081Met)
c.3863C>T (p.Thr1288Met)
c.3530C>T (p.Thr1177Met)
c.3611C>T (p.Thr1204Met)
n.1104C>T
c.3629C>T (p.Thr1210Met)
n.4002C>T
n.729C>T
c.2798C>T (p.Thr933Met)
c.2573C>T (p.Thr858Met)
c.3668C>T (p.Thr1223Met)
c.1641C>T
c.*964C>T (n.*964C>T)
n.4607C>T
n.3208C>T
c.3719C>T (p.Thr1240Met)
c.3767C>T (p.Thr1256Met)
c.3827C>T (p.Thr1276Met)
c.3377C>T (p.Thr1126Met)
c.1679C>T (p.Thr560Met)
c.1496C>T (p.Thr499Met)
c.3728C>T (p.Thr1243Met)
c.3680C>T (p.Thr1227Met)
c.3449C>T (p.Thr1150Met)
c.3350C>T (p.Thr1117Met)
c.2531C>T (p.Thr844Met)
n.4082C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937516G>CCA388021569ATP7Bc.*1513C>G (n.*1513C>G)
c.*2607C>G (n.*2607C>G)
c.3242C>G (p.Thr1081Arg)
c.3863C>G (p.Thr1288Arg)
c.3530C>G (p.Thr1177Arg)
c.3611C>G (p.Thr1204Arg)
n.1104C>G
c.3629C>G (p.Thr1210Arg)
n.4002C>G
n.729C>G
c.2798C>G (p.Thr933Arg)
c.2573C>G (p.Thr858Arg)
c.3668C>G (p.Thr1223Arg)
c.1641C>G
c.*964C>G (n.*964C>G)
n.4607C>G
n.3208C>G
c.3719C>G (p.Thr1240Arg)
c.3767C>G (p.Thr1256Arg)
c.3827C>G (p.Thr1276Arg)
c.3377C>G (p.Thr1126Arg)
c.1679C>G (p.Thr560Arg)
c.1496C>G (p.Thr499Arg)
c.3728C>G (p.Thr1243Arg)
c.3680C>G (p.Thr1227Arg)
c.3449C>G (p.Thr1150Arg)
c.3350C>G (p.Thr1117Arg)
c.2531C>G (p.Thr844Arg)
n.4082C>G
 ClinVar dbSNP gnomAD v4 COSMIC
13g.51937516G=CA2091553829ATP7Bc.*1513C= (n.*1513C=)
c.*2607C= (n.*2607C=)
c.3242C= (p.Thr1081=)
c.3863C= (p.Thr1288=)
c.3530C= (p.Thr1177=)
c.3611C= (p.Thr1204=)
n.1104C=
c.3629C= (p.Thr1210=)
n.4002C=
n.729C=
c.2798C= (p.Thr933=)
c.2573C= (p.Thr858=)
c.3668C= (p.Thr1223=)
c.1641C=
c.*964C= (n.*964C=)
n.4607C=
n.3208C=
c.3719C= (p.Thr1240=)
c.3767C= (p.Thr1256=)
c.3827C= (p.Thr1276=)
c.3377C= (p.Thr1126=)
c.1679C= (p.Thr560=)
c.1496C= (p.Thr499=)
c.3728C= (p.Thr1243=)
c.3680C= (p.Thr1227=)
c.3449C= (p.Thr1150=)
c.3350C= (p.Thr1117=)
c.2531C= (p.Thr844=)
n.4082C=
13g.51937516G>TCA388021571ATP7Bc.*1513C>A (n.*1513C>A)
c.*2607C>A (n.*2607C>A)
c.3242C>A (p.Thr1081Lys)
c.3863C>A (p.Thr1288Lys)
c.3530C>A (p.Thr1177Lys)
c.3611C>A (p.Thr1204Lys)
n.1104C>A
c.3629C>A (p.Thr1210Lys)
n.4002C>A
n.729C>A
c.2798C>A (p.Thr933Lys)
c.2573C>A (p.Thr858Lys)
c.3668C>A (p.Thr1223Lys)
c.1641C>A
c.*964C>A (n.*964C>A)
n.4607C>A
n.3208C>A
c.3719C>A (p.Thr1240Lys)
c.3767C>A (p.Thr1256Lys)
c.3827C>A (p.Thr1276Lys)
c.3377C>A (p.Thr1126Lys)
c.1679C>A (p.Thr560Lys)
c.1496C>A (p.Thr499Lys)
c.3728C>A (p.Thr1243Lys)
c.3680C>A (p.Thr1227Lys)
c.3449C>A (p.Thr1150Lys)
c.3350C>A (p.Thr1117Lys)
c.2531C>A (p.Thr844Lys)
n.4082C>A
13g.51937517T>ACA388021575ATP7Bc.*1512A>T (n.*1512A>T)
c.*2606A>T (n.*2606A>T)
c.3241A>T (p.Thr1081Ser)
c.3862A>T (p.Thr1288Ser)
c.3529A>T (p.Thr1177Ser)
c.3610A>T (p.Thr1204Ser)
n.1103A>T
c.3628A>T (p.Thr1210Ser)
n.4001A>T
n.728A>T
c.2797A>T (p.Thr933Ser)
c.2572A>T (p.Thr858Ser)
c.3667A>T (p.Thr1223Ser)
c.1640A>T
c.*963A>T (n.*963A>T)
n.4606A>T
n.3207A>T
c.3718A>T (p.Thr1240Ser)
c.3766A>T (p.Thr1256Ser)
c.3826A>T (p.Thr1276Ser)
c.3376A>T (p.Thr1126Ser)
c.1678A>T (p.Thr560Ser)
c.1495A>T (p.Thr499Ser)
c.3727A>T (p.Thr1243Ser)
c.3679A>T (p.Thr1227Ser)
c.3448A>T (p.Thr1150Ser)
c.3349A>T (p.Thr1117Ser)
c.2530A>T (p.Thr844Ser)
n.4081A>T
13g.51937517T>CCA388021578ATP7Bc.*1512A>G (n.*1512A>G)
c.*2606A>G (n.*2606A>G)
c.3241A>G (p.Thr1081Ala)
c.3862A>G (p.Thr1288Ala)
c.3529A>G (p.Thr1177Ala)
c.3610A>G (p.Thr1204Ala)
n.1103A>G
c.3628A>G (p.Thr1210Ala)
n.4001A>G
n.728A>G
c.2797A>G (p.Thr933Ala)
c.2572A>G (p.Thr858Ala)
c.3667A>G (p.Thr1223Ala)
c.1640A>G
c.*963A>G (n.*963A>G)
n.4606A>G
n.3207A>G
c.3718A>G (p.Thr1240Ala)
c.3766A>G (p.Thr1256Ala)
c.3826A>G (p.Thr1276Ala)
c.3376A>G (p.Thr1126Ala)
c.1678A>G (p.Thr560Ala)
c.1495A>G (p.Thr499Ala)
c.3727A>G (p.Thr1243Ala)
c.3679A>G (p.Thr1227Ala)
c.3448A>G (p.Thr1150Ala)
c.3349A>G (p.Thr1117Ala)
c.2530A>G (p.Thr844Ala)
n.4081A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51937517T>GCA388021577ATP7Bc.*1512A>C (n.*1512A>C)
c.*2606A>C (n.*2606A>C)
c.3241A>C (p.Thr1081Pro)
c.3862A>C (p.Thr1288Pro)
c.3529A>C (p.Thr1177Pro)
c.3610A>C (p.Thr1204Pro)
n.1103A>C
c.3628A>C (p.Thr1210Pro)
n.4001A>C
n.728A>C
c.2797A>C (p.Thr933Pro)
c.2572A>C (p.Thr858Pro)
c.3667A>C (p.Thr1223Pro)
c.1640A>C
c.*963A>C (n.*963A>C)
n.4606A>C
n.3207A>C
c.3718A>C (p.Thr1240Pro)
c.3766A>C (p.Thr1256Pro)
c.3826A>C (p.Thr1276Pro)
c.3376A>C (p.Thr1126Pro)
c.1678A>C (p.Thr560Pro)
c.1495A>C (p.Thr499Pro)
c.3727A>C (p.Thr1243Pro)
c.3679A>C (p.Thr1227Pro)
c.3448A>C (p.Thr1150Pro)
c.3349A>C (p.Thr1117Pro)
c.2530A>C (p.Thr844Pro)
n.4081A>C
 ClinVar dbSNP
13g.51937517T=CA2091553842ATP7Bc.*1512A= (n.*1512A=)
c.*2606A= (n.*2606A=)
c.3241A= (p.Thr1081=)
c.3862A= (p.Thr1288=)
c.3529A= (p.Thr1177=)
c.3610A= (p.Thr1204=)
n.1103A=
c.3628A= (p.Thr1210=)
n.4001A=
n.728A=
c.2797A= (p.Thr933=)
c.2572A= (p.Thr858=)
c.3667A= (p.Thr1223=)
c.1640A=
c.*963A= (n.*963A=)
n.4606A=
n.3207A=
c.3718A= (p.Thr1240=)
c.3766A= (p.Thr1256=)
c.3826A= (p.Thr1276=)
c.3376A= (p.Thr1126=)
c.1678A= (p.Thr560=)
c.1495A= (p.Thr499=)
c.3727A= (p.Thr1243=)
c.3679A= (p.Thr1227=)
c.3448A= (p.Thr1150=)
c.3349A= (p.Thr1117=)
c.2530A= (p.Thr844=)
n.4081A=
13g.51937521_51937548dupCA2573149695ATP7Bc.*1485_*1512dup (n.*1485_*1512dup)
c.*2579_*2606dup (n.*2579_*2606dup)
c.3214_3241dup (p.Thr1081ArgfsTer25)
c.3835_3862dup (p.Thr1288ArgfsTer25)
c.3502_3529dup (p.Thr1177ArgfsTer25)
c.3583_3610dup (p.Thr1204ArgfsTer25)
n.1076_1103dup
c.3601_3628dup (p.Thr1210ArgfsTer25)
n.3974_4001dup
n.701_728dup
c.2770_2797dup (p.Thr933ArgfsTer25)
c.2545_2572dup (p.Thr858ArgfsTer25)
c.3640_3667dup (p.Thr1223ArgfsTer25)
c.1613_1640dup
c.*936_*963dup (n.*936_*963dup)
n.4579_4606dup
n.3180_3207dup
c.3691_3718dup (p.Thr1240ArgfsTer25)
c.3739_3766dup (p.Thr1256ArgfsTer25)
c.3799_3826dup (p.Thr1276ArgfsTer25)
c.3349_3376dup (p.Thr1126ArgfsTer25)
c.1651_1678dup (p.Thr560ArgfsTer25)
c.1468_1495dup (p.Thr499ArgfsTer25)
c.3700_3727dup (p.Thr1243ArgfsTer25)
c.3652_3679dup (p.Thr1227ArgfsTer25)
c.3421_3448dup (p.Thr1150ArgfsTer25)
c.3322_3349dup (p.Thr1117ArgfsTer25)
c.2503_2530dup (p.Thr844ArgfsTer25)
n.4054_4081dup
 ClinVar dbSNP
13g.51937518G>ACA484024293ATP7Bc.*1511C>T (n.*1511C>T)
c.*2605C>T (n.*2605C>T)
c.3240C>T (p.Gly1080=)
c.3861C>T (p.Gly1287=)
c.3528C>T (p.Gly1176=)
c.3609C>T (p.Gly1203=)
n.1102C>T
c.3627C>T (p.Gly1209=)
n.4000C>T
n.727C>T
c.2796C>T (p.Gly932=)
c.2571C>T (p.Gly857=)
c.3666C>T (p.Gly1222=)
c.1639C>T
c.*962C>T (n.*962C>T)
n.4605C>T
n.3206C>T
c.3717C>T (p.Gly1239=)
c.3765C>T (p.Gly1255=)
c.3825C>T (p.Gly1275=)
c.3375C>T (p.Gly1125=)
c.1677C>T (p.Gly559=)
c.1494C>T (p.Gly498=)
c.3726C>T (p.Gly1242=)
c.3678C>T (p.Gly1226=)
c.3447C>T (p.Gly1149=)
c.3348C>T (p.Gly1116=)
c.2529C>T (p.Gly843=)
n.4080C>T
13g.51937518G>CCA484024294ATP7Bc.*1511C>G (n.*1511C>G)
c.*2605C>G (n.*2605C>G)
c.3240C>G (p.Gly1080=)
c.3861C>G (p.Gly1287=)
c.3528C>G (p.Gly1176=)
c.3609C>G (p.Gly1203=)
n.1102C>G
c.3627C>G (p.Gly1209=)
n.4000C>G
n.727C>G
c.2796C>G (p.Gly932=)
c.2571C>G (p.Gly857=)
c.3666C>G (p.Gly1222=)
c.1639C>G
c.*962C>G (n.*962C>G)
n.4605C>G
n.3206C>G
c.3717C>G (p.Gly1239=)
c.3765C>G (p.Gly1255=)
c.3825C>G (p.Gly1275=)
c.3375C>G (p.Gly1125=)
c.1677C>G (p.Gly559=)
c.1494C>G (p.Gly498=)
c.3726C>G (p.Gly1242=)
c.3678C>G (p.Gly1226=)
c.3447C>G (p.Gly1149=)
c.3348C>G (p.Gly1116=)
c.2529C>G (p.Gly843=)
n.4080C>G
13g.51937518G>TCA484024295ATP7Bc.*1511C>A (n.*1511C>A)
c.*2605C>A (n.*2605C>A)
c.3240C>A (p.Gly1080=)
c.3861C>A (p.Gly1287=)
c.3528C>A (p.Gly1176=)
c.3609C>A (p.Gly1203=)
n.1102C>A
c.3627C>A (p.Gly1209=)
n.4000C>A
n.727C>A
c.2796C>A (p.Gly932=)
c.2571C>A (p.Gly857=)
c.3666C>A (p.Gly1222=)
c.1639C>A
c.*962C>A (n.*962C>A)
n.4605C>A
n.3206C>A
c.3717C>A (p.Gly1239=)
c.3765C>A (p.Gly1255=)
c.3825C>A (p.Gly1275=)
c.3375C>A (p.Gly1125=)
c.1677C>A (p.Gly559=)
c.1494C>A (p.Gly498=)
c.3726C>A (p.Gly1242=)
c.3678C>A (p.Gly1226=)
c.3447C>A (p.Gly1149=)
c.3348C>A (p.Gly1116=)
c.2529C>A (p.Gly843=)
n.4080C>A
13g.51937519C>ACA388021580ATP7Bc.*1510G>T (n.*1510G>T)
c.*2604G>T (n.*2604G>T)
c.3239G>T (p.Gly1080Val)
c.3860G>T (p.Gly1287Val)
c.3527G>T (p.Gly1176Val)
c.3608G>T (p.Gly1203Val)
n.1101G>T
c.3626G>T (p.Gly1209Val)
n.3999G>T
n.726G>T
c.2795G>T (p.Gly932Val)
c.2570G>T (p.Gly857Val)
c.3665G>T (p.Gly1222Val)
c.1638G>T
c.*961G>T (n.*961G>T)
n.4604G>T
n.3205G>T
c.3716G>T (p.Gly1239Val)
c.3764G>T (p.Gly1255Val)
c.3824G>T (p.Gly1275Val)
c.3374G>T (p.Gly1125Val)
c.1676G>T (p.Gly559Val)
c.1493G>T (p.Gly498Val)
c.3725G>T (p.Gly1242Val)
c.3677G>T (p.Gly1226Val)
c.3446G>T (p.Gly1149Val)
c.3347G>T (p.Gly1116Val)
c.2528G>T (p.Gly843Val)
n.4079G>T
13g.51937519C>GCA388021583ATP7Bc.*1510G>C (n.*1510G>C)
c.*2604G>C (n.*2604G>C)
c.3239G>C (p.Gly1080Ala)
c.3860G>C (p.Gly1287Ala)
c.3527G>C (p.Gly1176Ala)
c.3608G>C (p.Gly1203Ala)
n.1101G>C
c.3626G>C (p.Gly1209Ala)
n.3999G>C
n.726G>C
c.2795G>C (p.Gly932Ala)
c.2570G>C (p.Gly857Ala)
c.3665G>C (p.Gly1222Ala)
c.1638G>C
c.*961G>C (n.*961G>C)
n.4604G>C
n.3205G>C
c.3716G>C (p.Gly1239Ala)
c.3764G>C (p.Gly1255Ala)
c.3824G>C (p.Gly1275Ala)
c.3374G>C (p.Gly1125Ala)
c.1676G>C (p.Gly559Ala)
c.1493G>C (p.Gly498Ala)
c.3725G>C (p.Gly1242Ala)
c.3677G>C (p.Gly1226Ala)
c.3446G>C (p.Gly1149Ala)
c.3347G>C (p.Gly1116Ala)
c.2528G>C (p.Gly843Ala)
n.4079G>C
13g.51937519C>TCA388021586ATP7Bc.*1510G>A (n.*1510G>A)
c.*2604G>A (n.*2604G>A)
c.3239G>A (p.Gly1080Asp)
c.3860G>A (p.Gly1287Asp)
c.3527G>A (p.Gly1176Asp)
c.3608G>A (p.Gly1203Asp)
n.1101G>A
c.3626G>A (p.Gly1209Asp)
n.3999G>A
n.726G>A
c.2795G>A (p.Gly932Asp)
c.2570G>A (p.Gly857Asp)
c.3665G>A (p.Gly1222Asp)
c.1638G>A
c.*961G>A (n.*961G>A)
n.4604G>A
n.3205G>A
c.3716G>A (p.Gly1239Asp)
c.3764G>A (p.Gly1255Asp)
c.3824G>A (p.Gly1275Asp)
c.3374G>A (p.Gly1125Asp)
c.1676G>A (p.Gly559Asp)
c.1493G>A (p.Gly498Asp)
c.3725G>A (p.Gly1242Asp)
c.3677G>A (p.Gly1226Asp)
c.3446G>A (p.Gly1149Asp)
c.3347G>A (p.Gly1116Asp)
c.2528G>A (p.Gly843Asp)
n.4079G>A
 ClinVar dbSNP
13g.51937520C>ACA388021590ATP7Bc.*1509G>T (n.*1509G>T)
c.*2603G>T (n.*2603G>T)
c.3238G>T (p.Gly1080Cys)
c.3859G>T (p.Gly1287Cys)
c.3526G>T (p.Gly1176Cys)
c.3607G>T (p.Gly1203Cys)
n.1100G>T
c.3625G>T (p.Gly1209Cys)
n.3998G>T
n.725G>T
c.2794G>T (p.Gly932Cys)
c.2569G>T (p.Gly857Cys)
c.3664G>T (p.Gly1222Cys)
c.1637G>T
c.*960G>T (n.*960G>T)
n.4603G>T
n.3204G>T
c.3715G>T (p.Gly1239Cys)
c.3763G>T (p.Gly1255Cys)
c.3823G>T (p.Gly1275Cys)
c.3373G>T (p.Gly1125Cys)
c.1675G>T (p.Gly559Cys)
c.1492G>T (p.Gly498Cys)
c.3724G>T (p.Gly1242Cys)
c.3676G>T (p.Gly1226Cys)
c.3445G>T (p.Gly1149Cys)
c.3346G>T (p.Gly1116Cys)
c.2527G>T (p.Gly843Cys)
n.4078G>T
 gnomAD v4
13g.51937520C=CA2091553851ATP7Bc.*1509G= (n.*1509G=)
c.*2603G= (n.*2603G=)
c.3238G= (p.Gly1080=)
c.3859G= (p.Gly1287=)
c.3526G= (p.Gly1176=)
c.3607G= (p.Gly1203=)
n.1100G=
c.3625G= (p.Gly1209=)
n.3998G=
n.725G=
c.2794G= (p.Gly932=)
c.2569G= (p.Gly857=)
c.3664G= (p.Gly1222=)
c.1637G=
c.*960G= (n.*960G=)
n.4603G=
n.3204G=
c.3715G= (p.Gly1239=)
c.3763G= (p.Gly1255=)
c.3823G= (p.Gly1275=)
c.3373G= (p.Gly1125=)
c.1675G= (p.Gly559=)
c.1492G= (p.Gly498=)
c.3724G= (p.Gly1242=)
c.3676G= (p.Gly1226=)
c.3445G= (p.Gly1149=)
c.3346G= (p.Gly1116=)
c.2527G= (p.Gly843=)
n.4078G=
13g.51937520C>GCA388021593ATP7Bc.*1509G>C (n.*1509G>C)
c.*2603G>C (n.*2603G>C)
c.3238G>C (p.Gly1080Arg)
c.3859G>C (p.Gly1287Arg)
c.3526G>C (p.Gly1176Arg)
c.3607G>C (p.Gly1203Arg)
n.1100G>C
c.3625G>C (p.Gly1209Arg)
n.3998G>C
n.725G>C
c.2794G>C (p.Gly932Arg)
c.2569G>C (p.Gly857Arg)
c.3664G>C (p.Gly1222Arg)
c.1637G>C
c.*960G>C (n.*960G>C)
n.4603G>C
n.3204G>C
c.3715G>C (p.Gly1239Arg)
c.3763G>C (p.Gly1255Arg)
c.3823G>C (p.Gly1275Arg)
c.3373G>C (p.Gly1125Arg)
c.1675G>C (p.Gly559Arg)
c.1492G>C (p.Gly498Arg)
c.3724G>C (p.Gly1242Arg)
c.3676G>C (p.Gly1226Arg)
c.3445G>C (p.Gly1149Arg)
c.3346G>C (p.Gly1116Arg)
c.2527G>C (p.Gly843Arg)
n.4078G>C
13g.51937520C>TCA6988556ATP7Bc.*1509G>A (n.*1509G>A)
c.*2603G>A (n.*2603G>A)
c.3238G>A (p.Gly1080Ser)
c.3859G>A (p.Gly1287Ser)
c.3526G>A (p.Gly1176Ser)
c.3607G>A (p.Gly1203Ser)
n.1100G>A
c.3625G>A (p.Gly1209Ser)
n.3998G>A
n.725G>A
c.2794G>A (p.Gly932Ser)
c.2569G>A (p.Gly857Ser)
c.3664G>A (p.Gly1222Ser)
c.1637G>A
c.*960G>A (n.*960G>A)
n.4603G>A
n.3204G>A
c.3715G>A (p.Gly1239Ser)
c.3763G>A (p.Gly1255Ser)
c.3823G>A (p.Gly1275Ser)
c.3373G>A (p.Gly1125Ser)
c.1675G>A (p.Gly559Ser)
c.1492G>A (p.Gly498Ser)
c.3724G>A (p.Gly1242Ser)
c.3676G>A (p.Gly1226Ser)
c.3445G>A (p.Gly1149Ser)
c.3346G>A (p.Gly1116Ser)
c.2527G>A (p.Gly843Ser)
n.4078G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937520_51937521insATCA2551394110ATP7Bc.*1508_*1509insAT (n.*1508_*1509insAT)
c.*2602_*2603insAT (n.*2602_*2603insAT)
c.3237_3238insAT (p.Gly1080MetfsTer?)
c.3858_3859insAT (p.Gly1287MetfsTer?)
c.3525_3526insAT (p.Gly1176MetfsTer?)
c.3606_3607insAT (p.Gly1203MetfsTer?)
n.1099_1100insAT
c.3624_3625insAT (p.Gly1209MetfsTer?)
n.3997_3998insAT
n.724_725insAT
c.2793_2794insAT (p.Gly932MetfsTer?)
c.2568_2569insAT (p.Gly857MetfsTer?)
c.3663_3664insAT (p.Gly1222MetfsTer?)
c.1636_1637insAT
c.*959_*960insAT (n.*959_*960insAT)
n.4602_4603insAT
n.3203_3204insAT
c.3714_3715insAT (p.Gly1239MetfsTer?)
c.3762_3763insAT (p.Gly1255MetfsTer?)
c.3822_3823insAT (p.Gly1275MetfsTer?)
c.3372_3373insAT (p.Gly1125MetfsTer?)
c.1674_1675insAT (p.Gly559MetfsTer?)
c.1491_1492insAT (p.Gly498MetfsTer?)
c.3723_3724insAT (p.Gly1242MetfsTer?)
c.3675_3676insAT (p.Gly1226MetfsTer?)
c.3444_3445insAT (p.Gly1149MetfsTer?)
c.3345_3346insAT (p.Gly1116MetfsTer?)
c.2526_2527insAT (p.Gly843MetfsTer?)
n.4077_4078insAT
13g.51937521G>ACA6988557ATP7Bc.*1508C>T (n.*1508C>T)
c.*2602C>T (n.*2602C>T)
c.3237C>T (p.Thr1079=)
c.3858C>T (p.Thr1286=)
c.3525C>T (p.Thr1175=)
c.3606C>T (p.Thr1202=)
n.1099C>T
c.3624C>T (p.Thr1208=)
n.3997C>T
n.724C>T
c.2793C>T (p.Thr931=)
c.2568C>T (p.Thr856=)
c.3663C>T (p.Thr1221=)
c.1636C>T
c.*959C>T (n.*959C>T)
n.4602C>T
n.3203C>T
c.3714C>T (p.Thr1238=)
c.3762C>T (p.Thr1254=)
c.3822C>T (p.Thr1274=)
c.3372C>T (p.Thr1124=)
c.1674C>T (p.Thr558=)
c.1491C>T (p.Thr497=)
c.3723C>T (p.Thr1241=)
c.3675C>T (p.Thr1225=)
c.3444C>T (p.Thr1148=)
c.3345C>T (p.Thr1115=)
c.2526C>T (p.Thr842=)
n.4077C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937521G>CCA484024296ATP7Bc.*1508C>G (n.*1508C>G)
c.*2602C>G (n.*2602C>G)
c.3237C>G (p.Thr1079=)
c.3858C>G (p.Thr1286=)
c.3525C>G (p.Thr1175=)
c.3606C>G (p.Thr1202=)
n.1099C>G
c.3624C>G (p.Thr1208=)
n.3997C>G
n.724C>G
c.2793C>G (p.Thr931=)
c.2568C>G (p.Thr856=)
c.3663C>G (p.Thr1221=)
c.1636C>G
c.*959C>G (n.*959C>G)
n.4602C>G
n.3203C>G
c.3714C>G (p.Thr1238=)
c.3762C>G (p.Thr1254=)
c.3822C>G (p.Thr1274=)
c.3372C>G (p.Thr1124=)
c.1674C>G (p.Thr558=)
c.1491C>G (p.Thr497=)
c.3723C>G (p.Thr1241=)
c.3675C>G (p.Thr1225=)
c.3444C>G (p.Thr1148=)
c.3345C>G (p.Thr1115=)
c.2526C>G (p.Thr842=)
n.4077C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51937521G=CA2091553860ATP7Bc.*1508C= (n.*1508C=)
c.*2602C= (n.*2602C=)
c.3237C= (p.Thr1079=)
c.3858C= (p.Thr1286=)
c.3525C= (p.Thr1175=)
c.3606C= (p.Thr1202=)
n.1099C=
c.3624C= (p.Thr1208=)
n.3997C=
n.724C=
c.2793C= (p.Thr931=)
c.2568C= (p.Thr856=)
c.3663C= (p.Thr1221=)
c.1636C=
c.*959C= (n.*959C=)
n.4602C=
n.3203C=
c.3714C= (p.Thr1238=)
c.3762C= (p.Thr1254=)
c.3822C= (p.Thr1274=)
c.3372C= (p.Thr1124=)
c.1674C= (p.Thr558=)
c.1491C= (p.Thr497=)
c.3723C= (p.Thr1241=)
c.3675C= (p.Thr1225=)
c.3444C= (p.Thr1148=)
c.3345C= (p.Thr1115=)
c.2526C= (p.Thr842=)
n.4077C=
13g.51937521G>TCA484024297ATP7Bc.*1508C>A (n.*1508C>A)
c.*2602C>A (n.*2602C>A)
c.3237C>A (p.Thr1079=)
c.3858C>A (p.Thr1286=)
c.3525C>A (p.Thr1175=)
c.3606C>A (p.Thr1202=)
n.1099C>A
c.3624C>A (p.Thr1208=)
n.3997C>A
n.724C>A
c.2793C>A (p.Thr931=)
c.2568C>A (p.Thr856=)
c.3663C>A (p.Thr1221=)
c.1636C>A
c.*959C>A (n.*959C>A)
n.4602C>A
n.3203C>A
c.3714C>A (p.Thr1238=)
c.3762C>A (p.Thr1254=)
c.3822C>A (p.Thr1274=)
c.3372C>A (p.Thr1124=)
c.1674C>A (p.Thr558=)
c.1491C>A (p.Thr497=)
c.3723C>A (p.Thr1241=)
c.3675C>A (p.Thr1225=)
c.3444C>A (p.Thr1148=)
c.3345C>A (p.Thr1115=)
c.2526C>A (p.Thr842=)
n.4077C>A
13g.51937522G>ACA6988558ATP7Bc.*1507C>T (n.*1507C>T)
c.*2601C>T (n.*2601C>T)
c.3236C>T (p.Thr1079Ile)
c.3857C>T (p.Thr1286Ile)
c.3524C>T (p.Thr1175Ile)
c.3605C>T (p.Thr1202Ile)
n.1098C>T
c.3623C>T (p.Thr1208Ile)
n.3996C>T
n.723C>T
c.2792C>T (p.Thr931Ile)
c.2567C>T (p.Thr856Ile)
c.3662C>T (p.Thr1221Ile)
c.1635C>T
c.*958C>T (n.*958C>T)
n.4601C>T
n.3202C>T
c.3713C>T (p.Thr1238Ile)
c.3761C>T (p.Thr1254Ile)
c.3821C>T (p.Thr1274Ile)
c.3371C>T (p.Thr1124Ile)
c.1673C>T (p.Thr558Ile)
c.1490C>T (p.Thr497Ile)
c.3722C>T (p.Thr1241Ile)
c.3674C>T (p.Thr1225Ile)
c.3443C>T (p.Thr1148Ile)
c.3344C>T (p.Thr1115Ile)
c.2525C>T (p.Thr842Ile)
n.4076C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51937522G>CCA388021601ATP7Bc.*1507C>G (n.*1507C>G)
c.*2601C>G (n.*2601C>G)
c.3236C>G (p.Thr1079Ser)
c.3857C>G (p.Thr1286Ser)
c.3524C>G (p.Thr1175Ser)
c.3605C>G (p.Thr1202Ser)
n.1098C>G
c.3623C>G (p.Thr1208Ser)
n.3996C>G
n.723C>G
c.2792C>G (p.Thr931Ser)
c.2567C>G (p.Thr856Ser)
c.3662C>G (p.Thr1221Ser)
c.1635C>G
c.*958C>G (n.*958C>G)
n.4601C>G
n.3202C>G
c.3713C>G (p.Thr1238Ser)
c.3761C>G (p.Thr1254Ser)
c.3821C>G (p.Thr1274Ser)
c.3371C>G (p.Thr1124Ser)
c.1673C>G (p.Thr558Ser)
c.1490C>G (p.Thr497Ser)
c.3722C>G (p.Thr1241Ser)
c.3674C>G (p.Thr1225Ser)
c.3443C>G (p.Thr1148Ser)
c.3344C>G (p.Thr1115Ser)
c.2525C>G (p.Thr842Ser)
n.4076C>G
13g.51937522G=CA2091553865ATP7Bc.*1507C= (n.*1507C=)
c.*2601C= (n.*2601C=)
c.3236C= (p.Thr1079=)
c.3857C= (p.Thr1286=)
c.3524C= (p.Thr1175=)
c.3605C= (p.Thr1202=)
n.1098C=
c.3623C= (p.Thr1208=)
n.3996C=
n.723C=
c.2792C= (p.Thr931=)
c.2567C= (p.Thr856=)
c.3662C= (p.Thr1221=)
c.1635C=
c.*958C= (n.*958C=)
n.4601C=
n.3202C=
c.3713C= (p.Thr1238=)
c.3761C= (p.Thr1254=)
c.3821C= (p.Thr1274=)
c.3371C= (p.Thr1124=)
c.1673C= (p.Thr558=)
c.1490C= (p.Thr497=)
c.3722C= (p.Thr1241=)
c.3674C= (p.Thr1225=)
c.3443C= (p.Thr1148=)
c.3344C= (p.Thr1115=)
c.2525C= (p.Thr842=)
n.4076C=
13g.51937522G>TCA388021608ATP7Bc.*1507C>A (n.*1507C>A)
c.*2601C>A (n.*2601C>A)
c.3236C>A (p.Thr1079Asn)
c.3857C>A (p.Thr1286Asn)
c.3524C>A (p.Thr1175Asn)
c.3605C>A (p.Thr1202Asn)
n.1098C>A
c.3623C>A (p.Thr1208Asn)
n.3996C>A
n.723C>A
c.2792C>A (p.Thr931Asn)
c.2567C>A (p.Thr856Asn)
c.3662C>A (p.Thr1221Asn)
c.1635C>A
c.*958C>A (n.*958C>A)
n.4601C>A
n.3202C>A
c.3713C>A (p.Thr1238Asn)
c.3761C>A (p.Thr1254Asn)
c.3821C>A (p.Thr1274Asn)
c.3371C>A (p.Thr1124Asn)
c.1673C>A (p.Thr558Asn)
c.1490C>A (p.Thr497Asn)
c.3722C>A (p.Thr1241Asn)
c.3674C>A (p.Thr1225Asn)
c.3443C>A (p.Thr1148Asn)
c.3344C>A (p.Thr1115Asn)
c.2525C>A (p.Thr842Asn)
n.4076C>A
13g.51937523T>ACA388021616ATP7Bc.*1506A>T (n.*1506A>T)
c.*2600A>T (n.*2600A>T)
c.3235A>T (p.Thr1079Ser)
c.3856A>T (p.Thr1286Ser)
c.3523A>T (p.Thr1175Ser)
c.3604A>T (p.Thr1202Ser)
n.1097A>T
c.3622A>T (p.Thr1208Ser)
n.3995A>T
n.722A>T
c.2791A>T (p.Thr931Ser)
c.2566A>T (p.Thr856Ser)
c.3661A>T (p.Thr1221Ser)
c.1634A>T
c.*957A>T (n.*957A>T)
n.4600A>T
n.3201A>T
c.3712A>T (p.Thr1238Ser)
c.3760A>T (p.Thr1254Ser)
c.3820A>T (p.Thr1274Ser)
c.3370A>T (p.Thr1124Ser)
c.1672A>T (p.Thr558Ser)
c.1489A>T (p.Thr497Ser)
c.3721A>T (p.Thr1241Ser)
c.3673A>T (p.Thr1225Ser)
c.3442A>T (p.Thr1148Ser)
c.3343A>T (p.Thr1115Ser)
c.2524A>T (p.Thr842Ser)
n.4075A>T
13g.51937523T>CCA388021619ATP7Bc.*1506A>G (n.*1506A>G)
c.*2600A>G (n.*2600A>G)
c.3235A>G (p.Thr1079Ala)
c.3856A>G (p.Thr1286Ala)
c.3523A>G (p.Thr1175Ala)
c.3604A>G (p.Thr1202Ala)
n.1097A>G
c.3622A>G (p.Thr1208Ala)
n.3995A>G
n.722A>G
c.2791A>G (p.Thr931Ala)
c.2566A>G (p.Thr856Ala)
c.3661A>G (p.Thr1221Ala)
c.1634A>G
c.*957A>G (n.*957A>G)
n.4600A>G
n.3201A>G
c.3712A>G (p.Thr1238Ala)
c.3760A>G (p.Thr1254Ala)
c.3820A>G (p.Thr1274Ala)
c.3370A>G (p.Thr1124Ala)
c.1672A>G (p.Thr558Ala)
c.1489A>G (p.Thr497Ala)
c.3721A>G (p.Thr1241Ala)
c.3673A>G (p.Thr1225Ala)
c.3442A>G (p.Thr1148Ala)
c.3343A>G (p.Thr1115Ala)
c.2524A>G (p.Thr842Ala)
n.4075A>G
 gnomAD v4
13g.51937523T>GCA388021612ATP7Bc.*1506A>C (n.*1506A>C)
c.*2600A>C (n.*2600A>C)
c.3235A>C (p.Thr1079Pro)
c.3856A>C (p.Thr1286Pro)
c.3523A>C (p.Thr1175Pro)
c.3604A>C (p.Thr1202Pro)
n.1097A>C
c.3622A>C (p.Thr1208Pro)
n.3995A>C
n.722A>C
c.2791A>C (p.Thr931Pro)
c.2566A>C (p.Thr856Pro)
c.3661A>C (p.Thr1221Pro)
c.1634A>C
c.*957A>C (n.*957A>C)
n.4600A>C
n.3201A>C
c.3712A>C (p.Thr1238Pro)
c.3760A>C (p.Thr1254Pro)
c.3820A>C (p.Thr1274Pro)
c.3370A>C (p.Thr1124Pro)
c.1672A>C (p.Thr558Pro)
c.1489A>C (p.Thr497Pro)
c.3721A>C (p.Thr1241Pro)
c.3673A>C (p.Thr1225Pro)
c.3442A>C (p.Thr1148Pro)
c.3343A>C (p.Thr1115Pro)
c.2524A>C (p.Thr842Pro)
n.4075A>C
13g.51937524G>ACA484024298ATP7Bc.*1505C>T (n.*1505C>T)
c.*2599C>T (n.*2599C>T)
c.3234C>T (p.Gly1078=)
c.3855C>T (p.Gly1285=)
c.3522C>T (p.Gly1174=)
c.3603C>T (p.Gly1201=)
n.1096C>T
c.3621C>T (p.Gly1207=)
n.3994C>T
n.721C>T
c.2790C>T (p.Gly930=)
c.2565C>T (p.Gly855=)
c.3660C>T (p.Gly1220=)
c.1633C>T
c.*956C>T (n.*956C>T)
n.4599C>T
n.3200C>T
c.3711C>T (p.Gly1237=)
c.3759C>T (p.Gly1253=)
c.3819C>T (p.Gly1273=)
c.3369C>T (p.Gly1123=)
c.1671C>T (p.Gly557=)
c.1488C>T (p.Gly496=)
c.3720C>T (p.Gly1240=)
c.3672C>T (p.Gly1224=)
c.3441C>T (p.Gly1147=)
c.3342C>T (p.Gly1114=)
c.2523C>T (p.Gly841=)
n.4074C>T
13g.51937524G>CCA484024299ATP7Bc.*1505C>G (n.*1505C>G)
c.*2599C>G (n.*2599C>G)
c.3234C>G (p.Gly1078=)
c.3855C>G (p.Gly1285=)
c.3522C>G (p.Gly1174=)
c.3603C>G (p.Gly1201=)
n.1096C>G
c.3621C>G (p.Gly1207=)
n.3994C>G
n.721C>G
c.2790C>G (p.Gly930=)
c.2565C>G (p.Gly855=)
c.3660C>G (p.Gly1220=)
c.1633C>G
c.*956C>G (n.*956C>G)
n.4599C>G
n.3200C>G
c.3711C>G (p.Gly1237=)
c.3759C>G (p.Gly1253=)
c.3819C>G (p.Gly1273=)
c.3369C>G (p.Gly1123=)
c.1671C>G (p.Gly557=)
c.1488C>G (p.Gly496=)
c.3720C>G (p.Gly1240=)
c.3672C>G (p.Gly1224=)
c.3441C>G (p.Gly1147=)
c.3342C>G (p.Gly1114=)
c.2523C>G (p.Gly841=)
n.4074C>G
13g.51937524G>TCA484024300ATP7Bc.*1505C>A (n.*1505C>A)
c.*2599C>A (n.*2599C>A)
c.3234C>A (p.Gly1078=)
c.3855C>A (p.Gly1285=)
c.3522C>A (p.Gly1174=)
c.3603C>A (p.Gly1201=)
n.1096C>A
c.3621C>A (p.Gly1207=)
n.3994C>A
n.721C>A
c.2790C>A (p.Gly930=)
c.2565C>A (p.Gly855=)
c.3660C>A (p.Gly1220=)
c.1633C>A
c.*956C>A (n.*956C>A)
n.4599C>A
n.3200C>A
c.3711C>A (p.Gly1237=)
c.3759C>A (p.Gly1253=)
c.3819C>A (p.Gly1273=)
c.3369C>A (p.Gly1123=)
c.1671C>A (p.Gly557=)
c.1488C>A (p.Gly496=)
c.3720C>A (p.Gly1240=)
c.3672C>A (p.Gly1224=)
c.3441C>A (p.Gly1147=)
c.3342C>A (p.Gly1114=)
c.2523C>A (p.Gly841=)
n.4074C>A
13g.51937525C>ACA388021621ATP7Bc.*1504G>T (n.*1504G>T)
c.*2598G>T (n.*2598G>T)
c.3233G>T (p.Gly1078Val)
c.3854G>T (p.Gly1285Val)
c.3521G>T (p.Gly1174Val)
c.3602G>T (p.Gly1201Val)
n.1095G>T
c.3620G>T (p.Gly1207Val)
n.3993G>T
n.720G>T
c.2789G>T (p.Gly930Val)
c.2564G>T (p.Gly855Val)
c.3659G>T (p.Gly1220Val)
c.1632G>T
c.*955G>T (n.*955G>T)
n.4598G>T
n.3199G>T
c.3710G>T (p.Gly1237Val)
c.3758G>T (p.Gly1253Val)
c.3818G>T (p.Gly1273Val)
c.3368G>T (p.Gly1123Val)
c.1670G>T (p.Gly557Val)
c.1487G>T (p.Gly496Val)
c.3719G>T (p.Gly1240Val)
c.3671G>T (p.Gly1224Val)
c.3440G>T (p.Gly1147Val)
c.3341G>T (p.Gly1114Val)
c.2522G>T (p.Gly841Val)
n.4073G>T
13g.51937525C>GCA388021624ATP7Bc.*1504G>C (n.*1504G>C)
c.*2598G>C (n.*2598G>C)
c.3233G>C (p.Gly1078Ala)
c.3854G>C (p.Gly1285Ala)
c.3521G>C (p.Gly1174Ala)
c.3602G>C (p.Gly1201Ala)
n.1095G>C
c.3620G>C (p.Gly1207Ala)
n.3993G>C
n.720G>C
c.2789G>C (p.Gly930Ala)
c.2564G>C (p.Gly855Ala)
c.3659G>C (p.Gly1220Ala)
c.1632G>C
c.*955G>C (n.*955G>C)
n.4598G>C
n.3199G>C
c.3710G>C (p.Gly1237Ala)
c.3758G>C (p.Gly1253Ala)
c.3818G>C (p.Gly1273Ala)
c.3368G>C (p.Gly1123Ala)
c.1670G>C (p.Gly557Ala)
c.1487G>C (p.Gly496Ala)
c.3719G>C (p.Gly1240Ala)
c.3671G>C (p.Gly1224Ala)
c.3440G>C (p.Gly1147Ala)
c.3341G>C (p.Gly1114Ala)
c.2522G>C (p.Gly841Ala)
n.4073G>C
13g.51937525C>TCA388021627ATP7Bc.*1504G>A (n.*1504G>A)
c.*2598G>A (n.*2598G>A)
c.3233G>A (p.Gly1078Asp)
c.3854G>A (p.Gly1285Asp)
c.3521G>A (p.Gly1174Asp)
c.3602G>A (p.Gly1201Asp)
n.1095G>A
c.3620G>A (p.Gly1207Asp)
n.3993G>A
n.720G>A
c.2789G>A (p.Gly930Asp)
c.2564G>A (p.Gly855Asp)
c.3659G>A (p.Gly1220Asp)
c.1632G>A
c.*955G>A (n.*955G>A)
n.4598G>A
n.3199G>A
c.3710G>A (p.Gly1237Asp)
c.3758G>A (p.Gly1253Asp)
c.3818G>A (p.Gly1273Asp)
c.3368G>A (p.Gly1123Asp)
c.1670G>A (p.Gly557Asp)
c.1487G>A (p.Gly496Asp)
c.3719G>A (p.Gly1240Asp)
c.3671G>A (p.Gly1224Asp)
c.3440G>A (p.Gly1147Asp)
c.3341G>A (p.Gly1114Asp)
c.2522G>A (p.Gly841Asp)
n.4073G>A
 COSMIC
13g.51937526C>ACA388021629ATP7Bc.*1503G>T (n.*1503G>T)
c.*2597G>T (n.*2597G>T)
c.3232G>T (p.Gly1078Cys)
c.3853G>T (p.Gly1285Cys)
c.3520G>T (p.Gly1174Cys)
c.3601G>T (p.Gly1201Cys)
n.1094G>T
c.3619G>T (p.Gly1207Cys)
n.3992G>T
n.719G>T
c.2788G>T (p.Gly930Cys)
c.2563G>T (p.Gly855Cys)
c.3658G>T (p.Gly1220Cys)
c.1631G>T
c.*954G>T (n.*954G>T)
n.4597G>T
n.3198G>T
c.3709G>T (p.Gly1237Cys)
c.3757G>T (p.Gly1253Cys)
c.3817G>T (p.Gly1273Cys)
c.3367G>T (p.Gly1123Cys)
c.1669G>T (p.Gly557Cys)
c.1486G>T (p.Gly496Cys)
c.3718G>T (p.Gly1240Cys)
c.3670G>T (p.Gly1224Cys)
c.3439G>T (p.Gly1147Cys)
c.3340G>T (p.Gly1114Cys)
c.2521G>T (p.Gly841Cys)
n.4072G>T
13g.51937526C>GCA388021632ATP7Bc.*1503G>C (n.*1503G>C)
c.*2597G>C (n.*2597G>C)
c.3232G>C (p.Gly1078Arg)
c.3853G>C (p.Gly1285Arg)
c.3520G>C (p.Gly1174Arg)
c.3601G>C (p.Gly1201Arg)
n.1094G>C
c.3619G>C (p.Gly1207Arg)
n.3992G>C
n.719G>C
c.2788G>C (p.Gly930Arg)
c.2563G>C (p.Gly855Arg)
c.3658G>C (p.Gly1220Arg)
c.1631G>C
c.*954G>C (n.*954G>C)
n.4597G>C
n.3198G>C
c.3709G>C (p.Gly1237Arg)
c.3757G>C (p.Gly1253Arg)
c.3817G>C (p.Gly1273Arg)
c.3367G>C (p.Gly1123Arg)
c.1669G>C (p.Gly557Arg)
c.1486G>C (p.Gly496Arg)
c.3718G>C (p.Gly1240Arg)
c.3670G>C (p.Gly1224Arg)
c.3439G>C (p.Gly1147Arg)
c.3340G>C (p.Gly1114Arg)
c.2521G>C (p.Gly841Arg)
n.4072G>C
13g.51937526C>TCA388021641ATP7Bc.*1503G>A (n.*1503G>A)
c.*2597G>A (n.*2597G>A)
c.3232G>A (p.Gly1078Ser)
c.3853G>A (p.Gly1285Ser)
c.3520G>A (p.Gly1174Ser)
c.3601G>A (p.Gly1201Ser)
n.1094G>A
c.3619G>A (p.Gly1207Ser)
n.3992G>A
n.719G>A
c.2788G>A (p.Gly930Ser)
c.2563G>A (p.Gly855Ser)
c.3658G>A (p.Gly1220Ser)
c.1631G>A
c.*954G>A (n.*954G>A)
n.4597G>A
n.3198G>A
c.3709G>A (p.Gly1237Ser)
c.3757G>A (p.Gly1253Ser)
c.3817G>A (p.Gly1273Ser)
c.3367G>A (p.Gly1123Ser)
c.1669G>A (p.Gly557Ser)
c.1486G>A (p.Gly496Ser)
c.3718G>A (p.Gly1240Ser)
c.3670G>A (p.Gly1224Ser)
c.3439G>A (p.Gly1147Ser)
c.3340G>A (p.Gly1114Ser)
c.2521G>A (p.Gly841Ser)
n.4072G>A
13g.51937526_51937527delCA2549490553ATP7Bc.*1502_*1503del (n.*1502_*1503del)
c.*2596_*2597del (n.*2596_*2597del)
c.3231_3232del (p.Ile1077MetfsTer19)
c.3852_3853del (p.Ile1284MetfsTer19)
c.3519_3520del (p.Ile1173MetfsTer19)
c.3600_3601del (p.Ile1200MetfsTer19)
n.1093_1094del
c.3618_3619del (p.Ile1206MetfsTer19)
n.3991_3992del
n.718_719del
c.2787_2788del (p.Ile929MetfsTer19)
c.2562_2563del (p.Ile854MetfsTer19)
c.3657_3658del (p.Ile1219MetfsTer19)
c.1630_1631del
c.*953_*954del (n.*953_*954del)
n.4596_4597del
n.3197_3198del
c.3708_3709del (p.Ile1236MetfsTer19)
c.3756_3757del (p.Ile1252MetfsTer19)
c.3816_3817del (p.Ile1272MetfsTer19)
c.3366_3367del (p.Ile1122MetfsTer19)
c.1668_1669del (p.Ile556MetfsTer19)
c.1485_1486del (p.Ile495MetfsTer19)
c.3717_3718del (p.Ile1239MetfsTer19)
c.3669_3670del (p.Ile1223MetfsTer19)
c.3438_3439del (p.Ile1146MetfsTer19)
c.3339_3340del (p.Ile1113MetfsTer19)
c.2520_2521del (p.Ile840MetfsTer19)
n.4071_4072del
13g.51937527A=CA2091553869ATP7Bc.*1502T= (n.*1502T=)
c.*2596T= (n.*2596T=)
c.3231T= (p.Ile1077=)
c.3852T= (p.Ile1284=)
c.3519T= (p.Ile1173=)
c.3600T= (p.Ile1200=)
n.1093T=
c.3618T= (p.Ile1206=)
n.3991T=
n.718T=
c.2787T= (p.Ile929=)
c.2562T= (p.Ile854=)
c.3657T= (p.Ile1219=)
c.1630T=
c.*953T= (n.*953T=)
n.4596T=
n.3197T=
c.3708T= (p.Ile1236=)
c.3756T= (p.Ile1252=)
c.3816T= (p.Ile1272=)
c.3366T= (p.Ile1122=)
c.1668T= (p.Ile556=)
c.1485T= (p.Ile495=)
c.3717T= (p.Ile1239=)
c.3669T= (p.Ile1223=)
c.3438T= (p.Ile1146=)
c.3339T= (p.Ile1113=)
c.2520T= (p.Ile840=)
n.4071T=
13g.51937527A>CCA388021647ATP7Bc.*1502T>G (n.*1502T>G)
c.*2596T>G (n.*2596T>G)
c.3231T>G (p.Ile1077Met)
c.3852T>G (p.Ile1284Met)
c.3519T>G (p.Ile1173Met)
c.3600T>G (p.Ile1200Met)
n.1093T>G
c.3618T>G (p.Ile1206Met)
n.3991T>G
n.718T>G
c.2787T>G (p.Ile929Met)
c.2562T>G (p.Ile854Met)
c.3657T>G (p.Ile1219Met)
c.1630T>G
c.*953T>G (n.*953T>G)
n.4596T>G
n.3197T>G
c.3708T>G (p.Ile1236Met)
c.3756T>G (p.Ile1252Met)
c.3816T>G (p.Ile1272Met)
c.3366T>G (p.Ile1122Met)
c.1668T>G (p.Ile556Met)
c.1485T>G (p.Ile495Met)
c.3717T>G (p.Ile1239Met)
c.3669T>G (p.Ile1223Met)
c.3438T>G (p.Ile1146Met)
c.3339T>G (p.Ile1113Met)
c.2520T>G (p.Ile840Met)
n.4071T>G
13g.51937527A>GCA6988559ATP7Bc.*1502T>C (n.*1502T>C)
c.*2596T>C (n.*2596T>C)
c.3231T>C (p.Ile1077=)
c.3852T>C (p.Ile1284=)
c.3519T>C (p.Ile1173=)
c.3600T>C (p.Ile1200=)
n.1093T>C
c.3618T>C (p.Ile1206=)
n.3991T>C
n.718T>C
c.2787T>C (p.Ile929=)
c.2562T>C (p.Ile854=)
c.3657T>C (p.Ile1219=)
c.1630T>C
c.*953T>C (n.*953T>C)
n.4596T>C
n.3197T>C
c.3708T>C (p.Ile1236=)
c.3756T>C (p.Ile1252=)
c.3816T>C (p.Ile1272=)
c.3366T>C (p.Ile1122=)
c.1668T>C (p.Ile556=)
c.1485T>C (p.Ile495=)
c.3717T>C (p.Ile1239=)
c.3669T>C (p.Ile1223=)
c.3438T>C (p.Ile1146=)
c.3339T>C (p.Ile1113=)
c.2520T>C (p.Ile840=)
n.4071T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937527A>TCA484024301ATP7Bc.*1502T>A (n.*1502T>A)
c.*2596T>A (n.*2596T>A)
c.3231T>A (p.Ile1077=)
c.3852T>A (p.Ile1284=)
c.3519T>A (p.Ile1173=)
c.3600T>A (p.Ile1200=)
n.1093T>A
c.3618T>A (p.Ile1206=)
n.3991T>A
n.718T>A
c.2787T>A (p.Ile929=)
c.2562T>A (p.Ile854=)
c.3657T>A (p.Ile1219=)
c.1630T>A
c.*953T>A (n.*953T>A)
n.4596T>A
n.3197T>A
c.3708T>A (p.Ile1236=)
c.3756T>A (p.Ile1252=)
c.3816T>A (p.Ile1272=)
c.3366T>A (p.Ile1122=)
c.1668T>A (p.Ile556=)
c.1485T>A (p.Ile495=)
c.3717T>A (p.Ile1239=)
c.3669T>A (p.Ile1223=)
c.3438T>A (p.Ile1146=)
c.3339T>A (p.Ile1113=)
c.2520T>A (p.Ile840=)
n.4071T>A
13g.51937528A>CCA388021650ATP7Bc.*1501T>G (n.*1501T>G)
c.*2595T>G (n.*2595T>G)
c.3230T>G (p.Ile1077Ser)
c.3851T>G (p.Ile1284Ser)
c.3518T>G (p.Ile1173Ser)
c.3599T>G (p.Ile1200Ser)
n.1092T>G
c.3617T>G (p.Ile1206Ser)
n.3990T>G
n.717T>G
c.2786T>G (p.Ile929Ser)
c.2561T>G (p.Ile854Ser)
c.3656T>G (p.Ile1219Ser)
c.1629T>G
c.*952T>G (n.*952T>G)
n.4595T>G
n.3196T>G
c.3707T>G (p.Ile1236Ser)
c.3755T>G (p.Ile1252Ser)
c.3815T>G (p.Ile1272Ser)
c.3365T>G (p.Ile1122Ser)
c.1667T>G (p.Ile556Ser)
c.1484T>G (p.Ile495Ser)
c.3716T>G (p.Ile1239Ser)
c.3668T>G (p.Ile1223Ser)
c.3437T>G (p.Ile1146Ser)
c.3338T>G (p.Ile1113Ser)
c.2519T>G (p.Ile840Ser)
n.4070T>G
13g.51937528A>GCA388021653ATP7Bc.*1501T>C (n.*1501T>C)
c.*2595T>C (n.*2595T>C)
c.3230T>C (p.Ile1077Thr)
c.3851T>C (p.Ile1284Thr)
c.3518T>C (p.Ile1173Thr)
c.3599T>C (p.Ile1200Thr)
n.1092T>C
c.3617T>C (p.Ile1206Thr)
n.3990T>C
n.717T>C
c.2786T>C (p.Ile929Thr)
c.2561T>C (p.Ile854Thr)
c.3656T>C (p.Ile1219Thr)
c.1629T>C
c.*952T>C (n.*952T>C)
n.4595T>C
n.3196T>C
c.3707T>C (p.Ile1236Thr)
c.3755T>C (p.Ile1252Thr)
c.3815T>C (p.Ile1272Thr)
c.3365T>C (p.Ile1122Thr)
c.1667T>C (p.Ile556Thr)
c.1484T>C (p.Ile495Thr)
c.3716T>C (p.Ile1239Thr)
c.3668T>C (p.Ile1223Thr)
c.3437T>C (p.Ile1146Thr)
c.3338T>C (p.Ile1113Thr)
c.2519T>C (p.Ile840Thr)
n.4070T>C
13g.51937528A>TCA388021655ATP7Bc.*1501T>A (n.*1501T>A)
c.*2595T>A (n.*2595T>A)
c.3230T>A (p.Ile1077Asn)
c.3851T>A (p.Ile1284Asn)
c.3518T>A (p.Ile1173Asn)
c.3599T>A (p.Ile1200Asn)
n.1092T>A
c.3617T>A (p.Ile1206Asn)
n.3990T>A
n.717T>A
c.2786T>A (p.Ile929Asn)
c.2561T>A (p.Ile854Asn)
c.3656T>A (p.Ile1219Asn)
c.1629T>A
c.*952T>A (n.*952T>A)
n.4595T>A
n.3196T>A
c.3707T>A (p.Ile1236Asn)
c.3755T>A (p.Ile1252Asn)
c.3815T>A (p.Ile1272Asn)
c.3365T>A (p.Ile1122Asn)
c.1667T>A (p.Ile556Asn)
c.1484T>A (p.Ile495Asn)
c.3716T>A (p.Ile1239Asn)
c.3668T>A (p.Ile1223Asn)
c.3437T>A (p.Ile1146Asn)
c.3338T>A (p.Ile1113Asn)
c.2519T>A (p.Ile840Asn)
n.4070T>A
13g.51937529T>ACA388021659ATP7Bc.*1500A>T (n.*1500A>T)
c.*2594A>T (n.*2594A>T)
c.3229A>T (p.Ile1077Phe)
c.3850A>T (p.Ile1284Phe)
c.3517A>T (p.Ile1173Phe)
c.3598A>T (p.Ile1200Phe)
n.1091A>T
c.3616A>T (p.Ile1206Phe)
n.3989A>T
n.716A>T
c.2785A>T (p.Ile929Phe)
c.2560A>T (p.Ile854Phe)
c.3655A>T (p.Ile1219Phe)
c.1628A>T
c.*951A>T (n.*951A>T)
n.4594A>T
n.3195A>T
c.3706A>T (p.Ile1236Phe)
c.3754A>T (p.Ile1252Phe)
c.3814A>T (p.Ile1272Phe)
c.3364A>T (p.Ile1122Phe)
c.1666A>T (p.Ile556Phe)
c.1483A>T (p.Ile495Phe)
c.3715A>T (p.Ile1239Phe)
c.3667A>T (p.Ile1223Phe)
c.3436A>T (p.Ile1146Phe)
c.3337A>T (p.Ile1113Phe)
c.2518A>T (p.Ile840Phe)
n.4069A>T
13g.51937529T>CCA388021663ATP7Bc.*1500A>G (n.*1500A>G)
c.*2594A>G (n.*2594A>G)
c.3229A>G (p.Ile1077Val)
c.3850A>G (p.Ile1284Val)
c.3517A>G (p.Ile1173Val)
c.3598A>G (p.Ile1200Val)
n.1091A>G
c.3616A>G (p.Ile1206Val)
n.3989A>G
n.716A>G
c.2785A>G (p.Ile929Val)
c.2560A>G (p.Ile854Val)
c.3655A>G (p.Ile1219Val)
c.1628A>G
c.*951A>G (n.*951A>G)
n.4594A>G
n.3195A>G
c.3706A>G (p.Ile1236Val)
c.3754A>G (p.Ile1252Val)
c.3814A>G (p.Ile1272Val)
c.3364A>G (p.Ile1122Val)
c.1666A>G (p.Ile556Val)
c.1483A>G (p.Ile495Val)
c.3715A>G (p.Ile1239Val)
c.3667A>G (p.Ile1223Val)
c.3436A>G (p.Ile1146Val)
c.3337A>G (p.Ile1113Val)
c.2518A>G (p.Ile840Val)
n.4069A>G
 dbSNP gnomAD v3 gnomAD v4
13g.51937529T>GCA388021666ATP7Bc.*1500A>C (n.*1500A>C)
c.*2594A>C (n.*2594A>C)
c.3229A>C (p.Ile1077Leu)
c.3850A>C (p.Ile1284Leu)
c.3517A>C (p.Ile1173Leu)
c.3598A>C (p.Ile1200Leu)
n.1091A>C
c.3616A>C (p.Ile1206Leu)
n.3989A>C
n.716A>C
c.2785A>C (p.Ile929Leu)
c.2560A>C (p.Ile854Leu)
c.3655A>C (p.Ile1219Leu)
c.1628A>C
c.*951A>C (n.*951A>C)
n.4594A>C
n.3195A>C
c.3706A>C (p.Ile1236Leu)
c.3754A>C (p.Ile1252Leu)
c.3814A>C (p.Ile1272Leu)
c.3364A>C (p.Ile1122Leu)
c.1666A>C (p.Ile556Leu)
c.1483A>C (p.Ile495Leu)
c.3715A>C (p.Ile1239Leu)
c.3667A>C (p.Ile1223Leu)
c.3436A>C (p.Ile1146Leu)
c.3337A>C (p.Ile1113Leu)
c.2518A>C (p.Ile840Leu)
n.4069A>C
13g.51937529T=CA2091553876ATP7Bc.*1500A= (n.*1500A=)
c.*2594A= (n.*2594A=)
c.3229A= (p.Ile1077=)
c.3850A= (p.Ile1284=)
c.3517A= (p.Ile1173=)
c.3598A= (p.Ile1200=)
n.1091A=
c.3616A= (p.Ile1206=)
n.3989A=
n.716A=
c.2785A= (p.Ile929=)
c.2560A= (p.Ile854=)
c.3655A= (p.Ile1219=)
c.1628A=
c.*951A= (n.*951A=)
n.4594A=
n.3195A=
c.3706A= (p.Ile1236=)
c.3754A= (p.Ile1252=)
c.3814A= (p.Ile1272=)
c.3364A= (p.Ile1122=)
c.1666A= (p.Ile556=)
c.1483A= (p.Ile495=)
c.3715A= (p.Ile1239=)
c.3667A= (p.Ile1223=)
c.3436A= (p.Ile1146=)
c.3337A= (p.Ile1113=)
c.2518A= (p.Ile840=)
n.4069A=
13g.51937530G>ACA484024304ATP7Bc.*1499C>T (n.*1499C>T)
c.*2593C>T (n.*2593C>T)
c.3228C>T (p.Ala1076=)
c.3849C>T (p.Ala1283=)
c.3516C>T (p.Ala1172=)
c.3597C>T (p.Ala1199=)
n.1090C>T
c.3615C>T (p.Ala1205=)
n.3988C>T
n.715C>T
c.2784C>T (p.Ala928=)
c.2559C>T (p.Ala853=)
c.3654C>T (p.Ala1218=)
c.1627C>T
c.*950C>T (n.*950C>T)
n.4593C>T
n.3194C>T
c.3705C>T (p.Ala1235=)
c.3753C>T (p.Ala1251=)
c.3813C>T (p.Ala1271=)
c.3363C>T (p.Ala1121=)
c.1665C>T (p.Ala555=)
c.1482C>T (p.Ala494=)
c.3714C>T (p.Ala1238=)
c.3666C>T (p.Ala1222=)
c.3435C>T (p.Ala1145=)
c.3336C>T (p.Ala1112=)
c.2517C>T (p.Ala839=)
n.4068C>T
13g.51937530G>CCA484024302ATP7Bc.*1499C>G (n.*1499C>G)
c.*2593C>G (n.*2593C>G)
c.3228C>G (p.Ala1076=)
c.3849C>G (p.Ala1283=)
c.3516C>G (p.Ala1172=)
c.3597C>G (p.Ala1199=)
n.1090C>G
c.3615C>G (p.Ala1205=)
n.3988C>G
n.715C>G
c.2784C>G (p.Ala928=)
c.2559C>G (p.Ala853=)
c.3654C>G (p.Ala1218=)
c.1627C>G
c.*950C>G (n.*950C>G)
n.4593C>G
n.3194C>G
c.3705C>G (p.Ala1235=)
c.3753C>G (p.Ala1251=)
c.3813C>G (p.Ala1271=)
c.3363C>G (p.Ala1121=)
c.1665C>G (p.Ala555=)
c.1482C>G (p.Ala494=)
c.3714C>G (p.Ala1238=)
c.3666C>G (p.Ala1222=)
c.3435C>G (p.Ala1145=)
c.3336C>G (p.Ala1112=)
c.2517C>G (p.Ala839=)
n.4068C>G
13g.51937530G>TCA484024303ATP7Bc.*1499C>A (n.*1499C>A)
c.*2593C>A (n.*2593C>A)
c.3228C>A (p.Ala1076=)
c.3849C>A (p.Ala1283=)
c.3516C>A (p.Ala1172=)
c.3597C>A (p.Ala1199=)
n.1090C>A
c.3615C>A (p.Ala1205=)
n.3988C>A
n.715C>A
c.2784C>A (p.Ala928=)
c.2559C>A (p.Ala853=)
c.3654C>A (p.Ala1218=)
c.1627C>A
c.*950C>A (n.*950C>A)
n.4593C>A
n.3194C>A
c.3705C>A (p.Ala1235=)
c.3753C>A (p.Ala1251=)
c.3813C>A (p.Ala1271=)
c.3363C>A (p.Ala1121=)
c.1665C>A (p.Ala555=)
c.1482C>A (p.Ala494=)
c.3714C>A (p.Ala1238=)
c.3666C>A (p.Ala1222=)
c.3435C>A (p.Ala1145=)
c.3336C>A (p.Ala1112=)
c.2517C>A (p.Ala839=)
n.4068C>A
13g.51937531G>ACA388021670ATP7Bc.*1498C>T (n.*1498C>T)
c.*2592C>T (n.*2592C>T)
c.3227C>T (p.Ala1076Val)
c.3848C>T (p.Ala1283Val)
c.3515C>T (p.Ala1172Val)
c.3596C>T (p.Ala1199Val)
n.1089C>T
c.3614C>T (p.Ala1205Val)
n.3987C>T
n.714C>T
c.2783C>T (p.Ala928Val)
c.2558C>T (p.Ala853Val)
c.3653C>T (p.Ala1218Val)
c.1626C>T
c.*949C>T (n.*949C>T)
n.4592C>T
n.3193C>T
c.3704C>T (p.Ala1235Val)
c.3752C>T (p.Ala1251Val)
c.3812C>T (p.Ala1271Val)
c.3362C>T (p.Ala1121Val)
c.1664C>T (p.Ala555Val)
c.1481C>T (p.Ala494Val)
c.3713C>T (p.Ala1238Val)
c.3665C>T (p.Ala1222Val)
c.3434C>T (p.Ala1145Val)
c.3335C>T (p.Ala1112Val)
c.2516C>T (p.Ala839Val)
n.4067C>T
13g.51937531G>CCA6988560ATP7Bc.*1498C>G (n.*1498C>G)
c.*2592C>G (n.*2592C>G)
c.3227C>G (p.Ala1076Gly)
c.3848C>G (p.Ala1283Gly)
c.3515C>G (p.Ala1172Gly)
c.3596C>G (p.Ala1199Gly)
n.1089C>G
c.3614C>G (p.Ala1205Gly)
n.3987C>G
n.714C>G
c.2783C>G (p.Ala928Gly)
c.2558C>G (p.Ala853Gly)
c.3653C>G (p.Ala1218Gly)
c.1626C>G
c.*949C>G (n.*949C>G)
n.4592C>G
n.3193C>G
c.3704C>G (p.Ala1235Gly)
c.3752C>G (p.Ala1251Gly)
c.3812C>G (p.Ala1271Gly)
c.3362C>G (p.Ala1121Gly)
c.1664C>G (p.Ala555Gly)
c.1481C>G (p.Ala494Gly)
c.3713C>G (p.Ala1238Gly)
c.3665C>G (p.Ala1222Gly)
c.3434C>G (p.Ala1145Gly)
c.3335C>G (p.Ala1112Gly)
c.2516C>G (p.Ala839Gly)
n.4067C>G
 dbSNP ExAC
13g.51937531G=CA2091553881ATP7Bc.*1498C= (n.*1498C=)
c.*2592C= (n.*2592C=)
c.3227C= (p.Ala1076=)
c.3848C= (p.Ala1283=)
c.3515C= (p.Ala1172=)
c.3596C= (p.Ala1199=)
n.1089C=
c.3614C= (p.Ala1205=)
n.3987C=
n.714C=
c.2783C= (p.Ala928=)
c.2558C= (p.Ala853=)
c.3653C= (p.Ala1218=)
c.1626C=
c.*949C= (n.*949C=)
n.4592C=
n.3193C=
c.3704C= (p.Ala1235=)
c.3752C= (p.Ala1251=)
c.3812C= (p.Ala1271=)
c.3362C= (p.Ala1121=)
c.1664C= (p.Ala555=)
c.1481C= (p.Ala494=)
c.3713C= (p.Ala1238=)
c.3665C= (p.Ala1222=)
c.3434C= (p.Ala1145=)
c.3335C= (p.Ala1112=)
c.2516C= (p.Ala839=)
n.4067C=
13g.51937531G>TCA388021673ATP7Bc.*1498C>A (n.*1498C>A)
c.*2592C>A (n.*2592C>A)
c.3227C>A (p.Ala1076Asp)
c.3848C>A (p.Ala1283Asp)
c.3515C>A (p.Ala1172Asp)
c.3596C>A (p.Ala1199Asp)
n.1089C>A
c.3614C>A (p.Ala1205Asp)
n.3987C>A
n.714C>A
c.2783C>A (p.Ala928Asp)
c.2558C>A (p.Ala853Asp)
c.3653C>A (p.Ala1218Asp)
c.1626C>A
c.*949C>A (n.*949C>A)
n.4592C>A
n.3193C>A
c.3704C>A (p.Ala1235Asp)
c.3752C>A (p.Ala1251Asp)
c.3812C>A (p.Ala1271Asp)
c.3362C>A (p.Ala1121Asp)
c.1664C>A (p.Ala555Asp)
c.1481C>A (p.Ala494Asp)
c.3713C>A (p.Ala1238Asp)
c.3665C>A (p.Ala1222Asp)
c.3434C>A (p.Ala1145Asp)
c.3335C>A (p.Ala1112Asp)
c.2516C>A (p.Ala839Asp)
n.4067C>A
13g.51937532C>ACA388021678ATP7Bc.*1497G>T (n.*1497G>T)
c.*2591G>T (n.*2591G>T)
c.3226G>T (p.Ala1076Ser)
c.3847G>T (p.Ala1283Ser)
c.3514G>T (p.Ala1172Ser)
c.3595G>T (p.Ala1199Ser)
n.1088G>T
c.3613G>T (p.Ala1205Ser)
n.3986G>T
n.713G>T
c.2782G>T (p.Ala928Ser)
c.2557G>T (p.Ala853Ser)
c.3652G>T (p.Ala1218Ser)
c.1625G>T
c.*948G>T (n.*948G>T)
n.4591G>T
n.3192G>T
c.3703G>T (p.Ala1235Ser)
c.3751G>T (p.Ala1251Ser)
c.3811G>T (p.Ala1271Ser)
c.3361G>T (p.Ala1121Ser)
c.1663G>T (p.Ala555Ser)
c.1480G>T (p.Ala494Ser)
c.3712G>T (p.Ala1238Ser)
c.3664G>T (p.Ala1222Ser)
c.3433G>T (p.Ala1145Ser)
c.3334G>T (p.Ala1112Ser)
c.2515G>T (p.Ala839Ser)
n.4066G>T
13g.51937532C=CA2091553885ATP7Bc.*1497G= (n.*1497G=)
c.*2591G= (n.*2591G=)
c.3226G= (p.Ala1076=)
c.3847G= (p.Ala1283=)
c.3514G= (p.Ala1172=)
c.3595G= (p.Ala1199=)
n.1088G=
c.3613G= (p.Ala1205=)
n.3986G=
n.713G=
c.2782G= (p.Ala928=)
c.2557G= (p.Ala853=)
c.3652G= (p.Ala1218=)
c.1625G=
c.*948G= (n.*948G=)
n.4591G=
n.3192G=
c.3703G= (p.Ala1235=)
c.3751G= (p.Ala1251=)
c.3811G= (p.Ala1271=)
c.3361G= (p.Ala1121=)
c.1663G= (p.Ala555=)
c.1480G= (p.Ala494=)
c.3712G= (p.Ala1238=)
c.3664G= (p.Ala1222=)
c.3433G= (p.Ala1145=)
c.3334G= (p.Ala1112=)
c.2515G= (p.Ala839=)
n.4066G=
13g.51937532C>GCA388021681ATP7Bc.*1497G>C (n.*1497G>C)
c.*2591G>C (n.*2591G>C)
c.3226G>C (p.Ala1076Pro)
c.3847G>C (p.Ala1283Pro)
c.3514G>C (p.Ala1172Pro)
c.3595G>C (p.Ala1199Pro)
n.1088G>C
c.3613G>C (p.Ala1205Pro)
n.3986G>C
n.713G>C
c.2782G>C (p.Ala928Pro)
c.2557G>C (p.Ala853Pro)
c.3652G>C (p.Ala1218Pro)
c.1625G>C
c.*948G>C (n.*948G>C)
n.4591G>C
n.3192G>C
c.3703G>C (p.Ala1235Pro)
c.3751G>C (p.Ala1251Pro)
c.3811G>C (p.Ala1271Pro)
c.3361G>C (p.Ala1121Pro)
c.1663G>C (p.Ala555Pro)
c.1480G>C (p.Ala494Pro)
c.3712G>C (p.Ala1238Pro)
c.3664G>C (p.Ala1222Pro)
c.3433G>C (p.Ala1145Pro)
c.3334G>C (p.Ala1112Pro)
c.2515G>C (p.Ala839Pro)
n.4066G>C
13g.51937532C>TCA388021683ATP7Bc.*1497G>A (n.*1497G>A)
c.*2591G>A (n.*2591G>A)
c.3226G>A (p.Ala1076Thr)
c.3847G>A (p.Ala1283Thr)
c.3514G>A (p.Ala1172Thr)
c.3595G>A (p.Ala1199Thr)
n.1088G>A
c.3613G>A (p.Ala1205Thr)
n.3986G>A
n.713G>A
c.2782G>A (p.Ala928Thr)
c.2557G>A (p.Ala853Thr)
c.3652G>A (p.Ala1218Thr)
c.1625G>A
c.*948G>A (n.*948G>A)
n.4591G>A
n.3192G>A
c.3703G>A (p.Ala1235Thr)
c.3751G>A (p.Ala1251Thr)
c.3811G>A (p.Ala1271Thr)
c.3361G>A (p.Ala1121Thr)
c.1663G>A (p.Ala555Thr)
c.1480G>A (p.Ala494Thr)
c.3712G>A (p.Ala1238Thr)
c.3664G>A (p.Ala1222Thr)
c.3433G>A (p.Ala1145Thr)
c.3334G>A (p.Ala1112Thr)
c.2515G>A (p.Ala839Thr)
n.4066G>A
 dbSNP gnomAD v4
13g.51937533C>ACA484024305ATP7Bc.*1496G>T (n.*1496G>T)
c.*2590G>T (n.*2590G>T)
c.3225G>T (p.Val1075=)
c.3846G>T (p.Val1282=)
c.3513G>T (p.Val1171=)
c.3594G>T (p.Val1198=)
n.1087G>T
c.3612G>T (p.Val1204=)
n.3985G>T
n.712G>T
c.2781G>T (p.Val927=)
c.2556G>T (p.Val852=)
c.3651G>T (p.Val1217=)
c.1624G>T
c.*947G>T (n.*947G>T)
n.4590G>T
n.3191G>T
c.3702G>T (p.Val1234=)
c.3750G>T (p.Val1250=)
c.3810G>T (p.Val1270=)
c.3360G>T (p.Val1120=)
c.1662G>T (p.Val554=)
c.1479G>T (p.Val493=)
c.3711G>T (p.Val1237=)
c.3663G>T (p.Val1221=)
c.3432G>T (p.Val1144=)
c.3333G>T (p.Val1111=)
c.2514G>T (p.Val838=)
n.4065G>T
 dbSNP
13g.51937533C>GCA484024306ATP7Bc.*1496G>C (n.*1496G>C)
c.*2590G>C (n.*2590G>C)
c.3225G>C (p.Val1075=)
c.3846G>C (p.Val1282=)
c.3513G>C (p.Val1171=)
c.3594G>C (p.Val1198=)
n.1087G>C
c.3612G>C (p.Val1204=)
n.3985G>C
n.712G>C
c.2781G>C (p.Val927=)
c.2556G>C (p.Val852=)
c.3651G>C (p.Val1217=)
c.1624G>C
c.*947G>C (n.*947G>C)
n.4590G>C
n.3191G>C
c.3702G>C (p.Val1234=)
c.3750G>C (p.Val1250=)
c.3810G>C (p.Val1270=)
c.3360G>C (p.Val1120=)
c.1662G>C (p.Val554=)
c.1479G>C (p.Val493=)
c.3711G>C (p.Val1237=)
c.3663G>C (p.Val1221=)
c.3432G>C (p.Val1144=)
c.3333G>C (p.Val1111=)
c.2514G>C (p.Val838=)
n.4065G>C
 ClinVar
13g.51937533C>TCA484024307ATP7Bc.*1496G>A (n.*1496G>A)
c.*2590G>A (n.*2590G>A)
c.3225G>A (p.Val1075=)
c.3846G>A (p.Val1282=)
c.3513G>A (p.Val1171=)
c.3594G>A (p.Val1198=)
n.1087G>A
c.3612G>A (p.Val1204=)
n.3985G>A
n.712G>A
c.2781G>A (p.Val927=)
c.2556G>A (p.Val852=)
c.3651G>A (p.Val1217=)
c.1624G>A
c.*947G>A (n.*947G>A)
n.4590G>A
n.3191G>A
c.3702G>A (p.Val1234=)
c.3750G>A (p.Val1250=)
c.3810G>A (p.Val1270=)
c.3360G>A (p.Val1120=)
c.1662G>A (p.Val554=)
c.1479G>A (p.Val493=)
c.3711G>A (p.Val1237=)
c.3663G>A (p.Val1221=)
c.3432G>A (p.Val1144=)
c.3333G>A (p.Val1111=)
c.2514G>A (p.Val838=)
n.4065G>A
13g.51937534A=CA2091553889ATP7Bc.*1495T= (n.*1495T=)
c.*2589T= (n.*2589T=)
c.3224T= (p.Val1075=)
c.3845T= (p.Val1282=)
c.3512T= (p.Val1171=)
c.3593T= (p.Val1198=)
n.1086T=
c.3611T= (p.Val1204=)
n.3984T=
n.711T=
c.2780T= (p.Val927=)
c.2555T= (p.Val852=)
c.3650T= (p.Val1217=)
c.1623T=
c.*946T= (n.*946T=)
n.4589T=
n.3190T=
c.3701T= (p.Val1234=)
c.3749T= (p.Val1250=)
c.3809T= (p.Val1270=)
c.3359T= (p.Val1120=)
c.1661T= (p.Val554=)
c.1478T= (p.Val493=)
c.3710T= (p.Val1237=)
c.3662T= (p.Val1221=)
c.3431T= (p.Val1144=)
c.3332T= (p.Val1111=)
c.2513T= (p.Val838=)
n.4064T=
13g.51937534A>CCA388021687ATP7Bc.*1495T>G (n.*1495T>G)
c.*2589T>G (n.*2589T>G)
c.3224T>G (p.Val1075Gly)
c.3845T>G (p.Val1282Gly)
c.3512T>G (p.Val1171Gly)
c.3593T>G (p.Val1198Gly)
n.1086T>G
c.3611T>G (p.Val1204Gly)
n.3984T>G
n.711T>G
c.2780T>G (p.Val927Gly)
c.2555T>G (p.Val852Gly)
c.3650T>G (p.Val1217Gly)
c.1623T>G
c.*946T>G (n.*946T>G)
n.4589T>G
n.3190T>G
c.3701T>G (p.Val1234Gly)
c.3749T>G (p.Val1250Gly)
c.3809T>G (p.Val1270Gly)
c.3359T>G (p.Val1120Gly)
c.1661T>G (p.Val554Gly)
c.1478T>G (p.Val493Gly)
c.3710T>G (p.Val1237Gly)
c.3662T>G (p.Val1221Gly)
c.3431T>G (p.Val1144Gly)
c.3332T>G (p.Val1111Gly)
c.2513T>G (p.Val838Gly)
n.4064T>G
13g.51937534A>GCA6988561ATP7Bc.*1495T>C (n.*1495T>C)
c.*2589T>C (n.*2589T>C)
c.3224T>C (p.Val1075Ala)
c.3845T>C (p.Val1282Ala)
c.3512T>C (p.Val1171Ala)
c.3593T>C (p.Val1198Ala)
n.1086T>C
c.3611T>C (p.Val1204Ala)
n.3984T>C
n.711T>C
c.2780T>C (p.Val927Ala)
c.2555T>C (p.Val852Ala)
c.3650T>C (p.Val1217Ala)
c.1623T>C
c.*946T>C (n.*946T>C)
n.4589T>C
n.3190T>C
c.3701T>C (p.Val1234Ala)
c.3749T>C (p.Val1250Ala)
c.3809T>C (p.Val1270Ala)
c.3359T>C (p.Val1120Ala)
c.1661T>C (p.Val554Ala)
c.1478T>C (p.Val493Ala)
c.3710T>C (p.Val1237Ala)
c.3662T>C (p.Val1221Ala)
c.3431T>C (p.Val1144Ala)
c.3332T>C (p.Val1111Ala)
c.2513T>C (p.Val838Ala)
n.4064T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937534A>TCA388021693ATP7Bc.*1495T>A (n.*1495T>A)
c.*2589T>A (n.*2589T>A)
c.3224T>A (p.Val1075Glu)
c.3845T>A (p.Val1282Glu)
c.3512T>A (p.Val1171Glu)
c.3593T>A (p.Val1198Glu)
n.1086T>A
c.3611T>A (p.Val1204Glu)
n.3984T>A
n.711T>A
c.2780T>A (p.Val927Glu)
c.2555T>A (p.Val852Glu)
c.3650T>A (p.Val1217Glu)
c.1623T>A
c.*946T>A (n.*946T>A)
n.4589T>A
n.3190T>A
c.3701T>A (p.Val1234Glu)
c.3749T>A (p.Val1250Glu)
c.3809T>A (p.Val1270Glu)
c.3359T>A (p.Val1120Glu)
c.1661T>A (p.Val554Glu)
c.1478T>A (p.Val493Glu)
c.3710T>A (p.Val1237Glu)
c.3662T>A (p.Val1221Glu)
c.3431T>A (p.Val1144Glu)
c.3332T>A (p.Val1111Glu)
c.2513T>A (p.Val838Glu)
n.4064T>A
13g.51937534dupCA2499222486ATP7Bc.*1495dup (n.*1495dup)
c.*2589dup (n.*2589dup)
c.3224dup (p.Ala1076GlyfsTer21)
c.3845dup (p.Ala1283GlyfsTer21)
c.3512dup (p.Ala1172GlyfsTer21)
c.3593dup (p.Ala1199GlyfsTer21)
n.1086dup
c.3611dup (p.Ala1205GlyfsTer21)
n.3984dup
n.711dup
c.2780dup (p.Ala928GlyfsTer21)
c.2555dup (p.Ala853GlyfsTer21)
c.3650dup (p.Ala1218GlyfsTer21)
c.1623dup
c.*946dup (n.*946dup)
n.4589dup
n.3190dup
c.3701dup (p.Ala1235GlyfsTer21)
c.3749dup (p.Ala1251GlyfsTer21)
c.3809dup (p.Ala1271GlyfsTer21)
c.3359dup (p.Ala1121GlyfsTer21)
c.1661dup (p.Ala555GlyfsTer21)
c.1478dup (p.Ala494GlyfsTer21)
c.3710dup (p.Ala1238GlyfsTer21)
c.3662dup (p.Ala1222GlyfsTer21)
c.3431dup (p.Ala1145GlyfsTer21)
c.3332dup (p.Ala1112GlyfsTer21)
c.2513dup (p.Ala839GlyfsTer21)
n.4064dup
 ClinVar dbSNP
13g.51937535C>ACA388021697ATP7Bc.*1494G>T (n.*1494G>T)
c.*2588G>T (n.*2588G>T)
c.3223G>T (p.Val1075Leu)
c.3844G>T (p.Val1282Leu)
c.3511G>T (p.Val1171Leu)
c.3592G>T (p.Val1198Leu)
n.1085G>T
c.3610G>T (p.Val1204Leu)
n.3983G>T
n.710G>T
c.2779G>T (p.Val927Leu)
c.2554G>T (p.Val852Leu)
c.3649G>T (p.Val1217Leu)
c.1622G>T
c.*945G>T (n.*945G>T)
n.4588G>T
n.3189G>T
c.3700G>T (p.Val1234Leu)
c.3748G>T (p.Val1250Leu)
c.3808G>T (p.Val1270Leu)
c.3358G>T (p.Val1120Leu)
c.1660G>T (p.Val554Leu)
c.1477G>T (p.Val493Leu)
c.3709G>T (p.Val1237Leu)
c.3661G>T (p.Val1221Leu)
c.3430G>T (p.Val1144Leu)
c.3331G>T (p.Val1111Leu)
c.2512G>T (p.Val838Leu)
n.4063G>T
 dbSNP gnomAD v2 gnomAD v4
13g.51937535C=CA2091553895ATP7Bc.*1494G= (n.*1494G=)
c.*2588G= (n.*2588G=)
c.3223G= (p.Val1075=)
c.3844G= (p.Val1282=)
c.3511G= (p.Val1171=)
c.3592G= (p.Val1198=)
n.1085G=
c.3610G= (p.Val1204=)
n.3983G=
n.710G=
c.2779G= (p.Val927=)
c.2554G= (p.Val852=)
c.3649G= (p.Val1217=)
c.1622G=
c.*945G= (n.*945G=)
n.4588G=
n.3189G=
c.3700G= (p.Val1234=)
c.3748G= (p.Val1250=)
c.3808G= (p.Val1270=)
c.3358G= (p.Val1120=)
c.1660G= (p.Val554=)
c.1477G= (p.Val493=)
c.3709G= (p.Val1237=)
c.3661G= (p.Val1221=)
c.3430G= (p.Val1144=)
c.3331G= (p.Val1111=)
c.2512G= (p.Val838=)
n.4063G=
13g.51937535C>GCA388021700ATP7Bc.*1494G>C (n.*1494G>C)
c.*2588G>C (n.*2588G>C)
c.3223G>C (p.Val1075Leu)
c.3844G>C (p.Val1282Leu)
c.3511G>C (p.Val1171Leu)
c.3592G>C (p.Val1198Leu)
n.1085G>C
c.3610G>C (p.Val1204Leu)
n.3983G>C
n.710G>C
c.2779G>C (p.Val927Leu)
c.2554G>C (p.Val852Leu)
c.3649G>C (p.Val1217Leu)
c.1622G>C
c.*945G>C (n.*945G>C)
n.4588G>C
n.3189G>C
c.3700G>C (p.Val1234Leu)
c.3748G>C (p.Val1250Leu)
c.3808G>C (p.Val1270Leu)
c.3358G>C (p.Val1120Leu)
c.1660G>C (p.Val554Leu)
c.1477G>C (p.Val493Leu)
c.3709G>C (p.Val1237Leu)
c.3661G>C (p.Val1221Leu)
c.3430G>C (p.Val1144Leu)
c.3331G>C (p.Val1111Leu)
c.2512G>C (p.Val838Leu)
n.4063G>C
13g.51937535C>TCA388021712ATP7Bc.*1494G>A (n.*1494G>A)
c.*2588G>A (n.*2588G>A)
c.3223G>A (p.Val1075Met)
c.3844G>A (p.Val1282Met)
c.3511G>A (p.Val1171Met)
c.3592G>A (p.Val1198Met)
n.1085G>A
c.3610G>A (p.Val1204Met)
n.3983G>A
n.710G>A
c.2779G>A (p.Val927Met)
c.2554G>A (p.Val852Met)
c.3649G>A (p.Val1217Met)
c.1622G>A
c.*945G>A (n.*945G>A)
n.4588G>A
n.3189G>A
c.3700G>A (p.Val1234Met)
c.3748G>A (p.Val1250Met)
c.3808G>A (p.Val1270Met)
c.3358G>A (p.Val1120Met)
c.1660G>A (p.Val554Met)
c.1477G>A (p.Val493Met)
c.3709G>A (p.Val1237Met)
c.3661G>A (p.Val1221Met)
c.3430G>A (p.Val1144Met)
c.3331G>A (p.Val1111Met)
c.2512G>A (p.Val838Met)
n.4063G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51937536A>CCA484024309ATP7Bc.*1493T>G (n.*1493T>G)
c.*2587T>G (n.*2587T>G)
c.3222T>G (p.Gly1074=)
c.3843T>G (p.Gly1281=)
c.3510T>G (p.Gly1170=)
c.3591T>G (p.Gly1197=)
n.1084T>G
c.3609T>G (p.Gly1203=)
n.3982T>G
n.709T>G
c.2778T>G (p.Gly926=)
c.2553T>G (p.Gly851=)
c.3648T>G (p.Gly1216=)
c.1621T>G
c.*944T>G (n.*944T>G)
n.4587T>G
n.3188T>G
c.3699T>G (p.Gly1233=)
c.3747T>G (p.Gly1249=)
c.3807T>G (p.Gly1269=)
c.3357T>G (p.Gly1119=)
c.1659T>G (p.Gly553=)
c.1476T>G (p.Gly492=)
c.3708T>G (p.Gly1236=)
c.3660T>G (p.Gly1220=)
c.3429T>G (p.Gly1143=)
c.3330T>G (p.Gly1110=)
c.2511T>G (p.Gly837=)
n.4062T>G
13g.51937536A>GCA484024310ATP7Bc.*1493T>C (n.*1493T>C)
c.*2587T>C (n.*2587T>C)
c.3222T>C (p.Gly1074=)
c.3843T>C (p.Gly1281=)
c.3510T>C (p.Gly1170=)
c.3591T>C (p.Gly1197=)
n.1084T>C
c.3609T>C (p.Gly1203=)
n.3982T>C
n.709T>C
c.2778T>C (p.Gly926=)
c.2553T>C (p.Gly851=)
c.3648T>C (p.Gly1216=)
c.1621T>C
c.*944T>C (n.*944T>C)
n.4587T>C
n.3188T>C
c.3699T>C (p.Gly1233=)
c.3747T>C (p.Gly1249=)
c.3807T>C (p.Gly1269=)
c.3357T>C (p.Gly1119=)
c.1659T>C (p.Gly553=)
c.1476T>C (p.Gly492=)
c.3708T>C (p.Gly1236=)
c.3660T>C (p.Gly1220=)
c.3429T>C (p.Gly1143=)
c.3330T>C (p.Gly1110=)
c.2511T>C (p.Gly837=)
n.4062T>C
 ClinVar
13g.51937536A>TCA484024311ATP7Bc.*1493T>A (n.*1493T>A)
c.*2587T>A (n.*2587T>A)
c.3222T>A (p.Gly1074=)
c.3843T>A (p.Gly1281=)
c.3510T>A (p.Gly1170=)
c.3591T>A (p.Gly1197=)
n.1084T>A
c.3609T>A (p.Gly1203=)
n.3982T>A
n.709T>A
c.2778T>A (p.Gly926=)
c.2553T>A (p.Gly851=)
c.3648T>A (p.Gly1216=)
c.1621T>A
c.*944T>A (n.*944T>A)
n.4587T>A
n.3188T>A
c.3699T>A (p.Gly1233=)
c.3747T>A (p.Gly1249=)
c.3807T>A (p.Gly1269=)
c.3357T>A (p.Gly1119=)
c.1659T>A (p.Gly553=)
c.1476T>A (p.Gly492=)
c.3708T>A (p.Gly1236=)
c.3660T>A (p.Gly1220=)
c.3429T>A (p.Gly1143=)
c.3330T>A (p.Gly1110=)
c.2511T>A (p.Gly837=)
n.4062T>A
13g.51937536dupCA484024308ATP7Bc.*1493dup (n.*1493dup)
c.*2587dup (n.*2587dup)
c.3222dup (p.Val1075CysfsTer22)
c.3843dup (p.Val1282CysfsTer22)
c.3510dup (p.Val1171CysfsTer22)
c.3591dup (p.Val1198CysfsTer22)
n.1084dup
c.3609dup (p.Val1204CysfsTer22)
n.3982dup
n.709dup
c.2778dup (p.Val927CysfsTer22)
c.2553dup (p.Val852CysfsTer22)
c.3648dup (p.Val1217CysfsTer22)
c.1621dup
c.*944dup (n.*944dup)
n.4587dup
n.3188dup
c.3699dup (p.Val1234CysfsTer22)
c.3747dup (p.Val1250CysfsTer22)
c.3807dup (p.Val1270CysfsTer22)
c.3357dup (p.Val1120CysfsTer22)
c.1659dup (p.Val554CysfsTer22)
c.1476dup (p.Val493CysfsTer22)
c.3708dup (p.Val1237CysfsTer22)
c.3660dup (p.Val1221CysfsTer22)
c.3429dup (p.Val1144CysfsTer22)
c.3330dup (p.Val1111CysfsTer22)
c.2511dup (p.Val838CysfsTer22)
n.4062dup
 ClinVar dbSNP gnomAD v4
13g.51937537C>ACA388021716ATP7Bc.*1492G>T (n.*1492G>T)
c.*2586G>T (n.*2586G>T)
c.3221G>T (p.Gly1074Val)
c.3842G>T (p.Gly1281Val)
c.3509G>T (p.Gly1170Val)
c.3590G>T (p.Gly1197Val)
n.1083G>T
c.3608G>T (p.Gly1203Val)
n.3981G>T
n.708G>T
c.2777G>T (p.Gly926Val)
c.2552G>T (p.Gly851Val)
c.3647G>T (p.Gly1216Val)
c.1620G>T
c.*943G>T (n.*943G>T)
n.4586G>T
n.3187G>T
c.3698G>T (p.Gly1233Val)
c.3746G>T (p.Gly1249Val)
c.3806G>T (p.Gly1269Val)
c.3356G>T (p.Gly1119Val)
c.1658G>T (p.Gly553Val)
c.1475G>T (p.Gly492Val)
c.3707G>T (p.Gly1236Val)
c.3659G>T (p.Gly1220Val)
c.3428G>T (p.Gly1143Val)
c.3329G>T (p.Gly1110Val)
c.2510G>T (p.Gly837Val)
n.4061G>T
 ClinVar dbSNP
13g.51937537C=CA2091553913ATP7Bc.*1492G= (n.*1492G=)
c.*2586G= (n.*2586G=)
c.3221G= (p.Gly1074=)
c.3842G= (p.Gly1281=)
c.3509G= (p.Gly1170=)
c.3590G= (p.Gly1197=)
n.1083G=
c.3608G= (p.Gly1203=)
n.3981G=
n.708G=
c.2777G= (p.Gly926=)
c.2552G= (p.Gly851=)
c.3647G= (p.Gly1216=)
c.1620G=
c.*943G= (n.*943G=)
n.4586G=
n.3187G=
c.3698G= (p.Gly1233=)
c.3746G= (p.Gly1249=)
c.3806G= (p.Gly1269=)
c.3356G= (p.Gly1119=)
c.1658G= (p.Gly553=)
c.1475G= (p.Gly492=)
c.3707G= (p.Gly1236=)
c.3659G= (p.Gly1220=)
c.3428G= (p.Gly1143=)
c.3329G= (p.Gly1110=)
c.2510G= (p.Gly837=)
n.4061G=
13g.51937537C>GCA6988562ATP7Bc.*1492G>C (n.*1492G>C)
c.*2586G>C (n.*2586G>C)
c.3221G>C (p.Gly1074Ala)
c.3842G>C (p.Gly1281Ala)
c.3509G>C (p.Gly1170Ala)
c.3590G>C (p.Gly1197Ala)
n.1083G>C
c.3608G>C (p.Gly1203Ala)
n.3981G>C
n.708G>C
c.2777G>C (p.Gly926Ala)
c.2552G>C (p.Gly851Ala)
c.3647G>C (p.Gly1216Ala)
c.1620G>C
c.*943G>C (n.*943G>C)
n.4586G>C
n.3187G>C
c.3698G>C (p.Gly1233Ala)
c.3746G>C (p.Gly1249Ala)
c.3806G>C (p.Gly1269Ala)
c.3356G>C (p.Gly1119Ala)
c.1658G>C (p.Gly553Ala)
c.1475G>C (p.Gly492Ala)
c.3707G>C (p.Gly1236Ala)
c.3659G>C (p.Gly1220Ala)
c.3428G>C (p.Gly1143Ala)
c.3329G>C (p.Gly1110Ala)
c.2510G>C (p.Gly837Ala)
n.4061G>C
 dbSNP ExAC gnomAD v2
13g.51937537C>TCA388021725ATP7Bc.*1492G>A (n.*1492G>A)
c.*2586G>A (n.*2586G>A)
c.3221G>A (p.Gly1074Asp)
c.3842G>A (p.Gly1281Asp)
c.3509G>A (p.Gly1170Asp)
c.3590G>A (p.Gly1197Asp)
n.1083G>A
c.3608G>A (p.Gly1203Asp)
n.3981G>A
n.708G>A
c.2777G>A (p.Gly926Asp)
c.2552G>A (p.Gly851Asp)
c.3647G>A (p.Gly1216Asp)
c.1620G>A
c.*943G>A (n.*943G>A)
n.4586G>A
n.3187G>A
c.3698G>A (p.Gly1233Asp)
c.3746G>A (p.Gly1249Asp)
c.3806G>A (p.Gly1269Asp)
c.3356G>A (p.Gly1119Asp)
c.1658G>A (p.Gly553Asp)
c.1475G>A (p.Gly492Asp)
c.3707G>A (p.Gly1236Asp)
c.3659G>A (p.Gly1220Asp)
c.3428G>A (p.Gly1143Asp)
c.3329G>A (p.Gly1110Asp)
c.2510G>A (p.Gly837Asp)
n.4061G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51937537_51937538insTCA2538880795ATP7Bc.*1491_*1492insA (n.*1491_*1492insA)
c.*2585_*2586insA (n.*2585_*2586insA)
c.3220_3221insA (p.Gly1074GlufsTer23)
c.3841_3842insA (p.Gly1281GlufsTer23)
c.3508_3509insA (p.Gly1170GlufsTer23)
c.3589_3590insA (p.Gly1197GlufsTer23)
n.1082_1083insA
c.3607_3608insA (p.Gly1203GlufsTer23)
n.3980_3981insA
n.707_708insA
c.2776_2777insA (p.Gly926GlufsTer23)
c.2551_2552insA (p.Gly851GlufsTer23)
c.3646_3647insA (p.Gly1216GlufsTer23)
c.1619_1620insA
c.*942_*943insA (n.*942_*943insA)
n.4585_4586insA
n.3186_3187insA
c.3697_3698insA (p.Gly1233GlufsTer23)
c.3745_3746insA (p.Gly1249GlufsTer23)
c.3805_3806insA (p.Gly1269GlufsTer23)
c.3355_3356insA (p.Gly1119GlufsTer23)
c.1657_1658insA (p.Gly553GlufsTer23)
c.1474_1475insA (p.Gly492GlufsTer23)
c.3706_3707insA (p.Gly1236GlufsTer23)
c.3658_3659insA (p.Gly1220GlufsTer23)
c.3427_3428insA (p.Gly1143GlufsTer23)
c.3328_3329insA (p.Gly1110GlufsTer23)
c.2509_2510insA (p.Gly837GlufsTer23)
n.4060_4061insA
13g.51937537_51937538insTTCA2559077142ATP7Bc.*1491_*1492insAA (n.*1491_*1492insAA)
c.*2585_*2586insAA (n.*2585_*2586insAA)
c.3220_3221insAA (p.Gly1074GlufsTer?)
c.3841_3842insAA (p.Gly1281GlufsTer?)
c.3508_3509insAA (p.Gly1170GlufsTer?)
c.3589_3590insAA (p.Gly1197GlufsTer?)
n.1082_1083insAA
c.3607_3608insAA (p.Gly1203GlufsTer?)
n.3980_3981insAA
n.707_708insAA
c.2776_2777insAA (p.Gly926GlufsTer?)
c.2551_2552insAA (p.Gly851GlufsTer?)
c.3646_3647insAA (p.Gly1216GlufsTer?)
c.1619_1620insAA
c.*942_*943insAA (n.*942_*943insAA)
n.4585_4586insAA
n.3186_3187insAA
c.3697_3698insAA (p.Gly1233GlufsTer?)
c.3745_3746insAA (p.Gly1249GlufsTer?)
c.3805_3806insAA (p.Gly1269GlufsTer?)
c.3355_3356insAA (p.Gly1119GlufsTer?)
c.1657_1658insAA (p.Gly553GlufsTer?)
c.1474_1475insAA (p.Gly492GlufsTer?)
c.3706_3707insAA (p.Gly1236GlufsTer?)
c.3658_3659insAA (p.Gly1220GlufsTer?)
c.3427_3428insAA (p.Gly1143GlufsTer?)
c.3328_3329insAA (p.Gly1110GlufsTer?)
c.2509_2510insAA (p.Gly837GlufsTer?)
n.4060_4061insAA
13g.51937538C>ACA388021731ATP7Bc.*1491G>T (n.*1491G>T)
c.*2585G>T (n.*2585G>T)
c.3220G>T (p.Gly1074Cys)
c.3841G>T (p.Gly1281Cys)
c.3508G>T (p.Gly1170Cys)
c.3589G>T (p.Gly1197Cys)
n.1082G>T
c.3607G>T (p.Gly1203Cys)
n.3980G>T
n.707G>T
c.2776G>T (p.Gly926Cys)
c.2551G>T (p.Gly851Cys)
c.3646G>T (p.Gly1216Cys)
c.1619G>T
c.*942G>T (n.*942G>T)
n.4585G>T
n.3186G>T
c.3697G>T (p.Gly1233Cys)
c.3745G>T (p.Gly1249Cys)
c.3805G>T (p.Gly1269Cys)
c.3355G>T (p.Gly1119Cys)
c.1657G>T (p.Gly553Cys)
c.1474G>T (p.Gly492Cys)
c.3706G>T (p.Gly1236Cys)
c.3658G>T (p.Gly1220Cys)
c.3427G>T (p.Gly1143Cys)
c.3328G>T (p.Gly1110Cys)
c.2509G>T (p.Gly837Cys)
n.4060G>T
 ClinVar dbSNP
13g.51937538C=CA2091553927ATP7Bc.*1491G= (n.*1491G=)
c.*2585G= (n.*2585G=)
c.3220G= (p.Gly1074=)
c.3841G= (p.Gly1281=)
c.3508G= (p.Gly1170=)
c.3589G= (p.Gly1197=)
n.1082G=
c.3607G= (p.Gly1203=)
n.3980G=
n.707G=
c.2776G= (p.Gly926=)
c.2551G= (p.Gly851=)
c.3646G= (p.Gly1216=)
c.1619G=
c.*942G= (n.*942G=)
n.4585G=
n.3186G=
c.3697G= (p.Gly1233=)
c.3745G= (p.Gly1249=)
c.3805G= (p.Gly1269=)
c.3355G= (p.Gly1119=)
c.1657G= (p.Gly553=)
c.1474G= (p.Gly492=)
c.3706G= (p.Gly1236=)
c.3658G= (p.Gly1220=)
c.3427G= (p.Gly1143=)
c.3328G= (p.Gly1110=)
c.2509G= (p.Gly837=)
n.4060G=
13g.51937538C>GCA388021735ATP7Bc.*1491G>C (n.*1491G>C)
c.*2585G>C (n.*2585G>C)
c.3220G>C (p.Gly1074Arg)
c.3841G>C (p.Gly1281Arg)
c.3508G>C (p.Gly1170Arg)
c.3589G>C (p.Gly1197Arg)
n.1082G>C
c.3607G>C (p.Gly1203Arg)
n.3980G>C
n.707G>C
c.2776G>C (p.Gly926Arg)
c.2551G>C (p.Gly851Arg)
c.3646G>C (p.Gly1216Arg)
c.1619G>C
c.*942G>C (n.*942G>C)
n.4585G>C
n.3186G>C
c.3697G>C (p.Gly1233Arg)
c.3745G>C (p.Gly1249Arg)
c.3805G>C (p.Gly1269Arg)
c.3355G>C (p.Gly1119Arg)
c.1657G>C (p.Gly553Arg)
c.1474G>C (p.Gly492Arg)
c.3706G>C (p.Gly1236Arg)
c.3658G>C (p.Gly1220Arg)
c.3427G>C (p.Gly1143Arg)
c.3328G>C (p.Gly1110Arg)
c.2509G>C (p.Gly837Arg)
n.4060G>C
13g.51937538C>TCA388021734ATP7Bc.*1491G>A (n.*1491G>A)
c.*2585G>A (n.*2585G>A)
c.3220G>A (p.Gly1074Ser)
c.3841G>A (p.Gly1281Ser)
c.3508G>A (p.Gly1170Ser)
c.3589G>A (p.Gly1197Ser)
n.1082G>A
c.3607G>A (p.Gly1203Ser)
n.3980G>A
n.707G>A
c.2776G>A (p.Gly926Ser)
c.2551G>A (p.Gly851Ser)
c.3646G>A (p.Gly1216Ser)
c.1619G>A
c.*942G>A (n.*942G>A)
n.4585G>A
n.3186G>A
c.3697G>A (p.Gly1233Ser)
c.3745G>A (p.Gly1249Ser)
c.3805G>A (p.Gly1269Ser)
c.3355G>A (p.Gly1119Ser)
c.1657G>A (p.Gly553Ser)
c.1474G>A (p.Gly492Ser)
c.3706G>A (p.Gly1236Ser)
c.3658G>A (p.Gly1220Ser)
c.3427G>A (p.Gly1143Ser)
c.3328G>A (p.Gly1110Ser)
c.2509G>A (p.Gly837Ser)
n.4060G>A
13g.51937538_51937539insACA2540923280ATP7Bc.*1490_*1491insT (n.*1490_*1491insT)
c.*2584_*2585insT (n.*2584_*2585insT)
c.3219_3220insT (p.Gly1074TrpfsTer23)
c.3840_3841insT (p.Gly1281TrpfsTer23)
c.3507_3508insT (p.Gly1170TrpfsTer23)
c.3588_3589insT (p.Gly1197TrpfsTer23)
n.1081_1082insT
c.3606_3607insT (p.Gly1203TrpfsTer23)
n.3979_3980insT
n.706_707insT
c.2775_2776insT (p.Gly926TrpfsTer23)
c.2550_2551insT (p.Gly851TrpfsTer23)
c.3645_3646insT (p.Gly1216TrpfsTer23)
c.1618_1619insT
c.*941_*942insT (n.*941_*942insT)
n.4584_4585insT
n.3185_3186insT
c.3696_3697insT (p.Gly1233TrpfsTer23)
c.3744_3745insT (p.Gly1249TrpfsTer23)
c.3804_3805insT (p.Gly1269TrpfsTer23)
c.3354_3355insT (p.Gly1119TrpfsTer23)
c.1656_1657insT (p.Gly553TrpfsTer23)
c.1473_1474insT (p.Gly492TrpfsTer23)
c.3705_3706insT (p.Gly1236TrpfsTer23)
c.3657_3658insT (p.Gly1220TrpfsTer23)
c.3426_3427insT (p.Gly1143TrpfsTer23)
c.3327_3328insT (p.Gly1110TrpfsTer23)
c.2508_2509insT (p.Gly837TrpfsTer23)
n.4059_4060insT
13g.51937539C>ACA388021736ATP7Bc.*1490G>T (n.*1490G>T)
c.*2584G>T (n.*2584G>T)
c.3219G>T (p.Met1073Ile)
c.3840G>T (p.Met1280Ile)
c.3507G>T (p.Met1169Ile)
c.3588G>T (p.Met1196Ile)
n.1081G>T
c.3606G>T (p.Met1202Ile)
n.3979G>T
n.706G>T
c.2775G>T (p.Met925Ile)
c.2550G>T (p.Met850Ile)
c.3645G>T (p.Met1215Ile)
c.1618G>T
c.*941G>T (n.*941G>T)
n.4584G>T
n.3185G>T
c.3696G>T (p.Met1232Ile)
c.3744G>T (p.Met1248Ile)
c.3804G>T (p.Met1268Ile)
c.3354G>T (p.Met1118Ile)
c.1656G>T (p.Met552Ile)
c.1473G>T (p.Met491Ile)
c.3705G>T (p.Met1235Ile)
c.3657G>T (p.Met1219Ile)
c.3426G>T (p.Met1142Ile)
c.3327G>T (p.Met1109Ile)
c.2508G>T (p.Met836Ile)
n.4059G>T
13g.51937539C>GCA388021738ATP7Bc.*1490G>C (n.*1490G>C)
c.*2584G>C (n.*2584G>C)
c.3219G>C (p.Met1073Ile)
c.3840G>C (p.Met1280Ile)
c.3507G>C (p.Met1169Ile)
c.3588G>C (p.Met1196Ile)
n.1081G>C
c.3606G>C (p.Met1202Ile)
n.3979G>C
n.706G>C
c.2775G>C (p.Met925Ile)
c.2550G>C (p.Met850Ile)
c.3645G>C (p.Met1215Ile)
c.1618G>C
c.*941G>C (n.*941G>C)
n.4584G>C
n.3185G>C
c.3696G>C (p.Met1232Ile)
c.3744G>C (p.Met1248Ile)
c.3804G>C (p.Met1268Ile)
c.3354G>C (p.Met1118Ile)
c.1656G>C (p.Met552Ile)
c.1473G>C (p.Met491Ile)
c.3705G>C (p.Met1235Ile)
c.3657G>C (p.Met1219Ile)
c.3426G>C (p.Met1142Ile)
c.3327G>C (p.Met1109Ile)
c.2508G>C (p.Met836Ile)
n.4059G>C
13g.51937539C>TCA388021737ATP7Bc.*1490G>A (n.*1490G>A)
c.*2584G>A (n.*2584G>A)
c.3219G>A (p.Met1073Ile)
c.3840G>A (p.Met1280Ile)
c.3507G>A (p.Met1169Ile)
c.3588G>A (p.Met1196Ile)
n.1081G>A
c.3606G>A (p.Met1202Ile)
n.3979G>A
n.706G>A
c.2775G>A (p.Met925Ile)
c.2550G>A (p.Met850Ile)
c.3645G>A (p.Met1215Ile)
c.1618G>A
c.*941G>A (n.*941G>A)
n.4584G>A
n.3185G>A
c.3696G>A (p.Met1232Ile)
c.3744G>A (p.Met1248Ile)
c.3804G>A (p.Met1268Ile)
c.3354G>A (p.Met1118Ile)
c.1656G>A (p.Met552Ile)
c.1473G>A (p.Met491Ile)
c.3705G>A (p.Met1235Ile)
c.3657G>A (p.Met1219Ile)
c.3426G>A (p.Met1142Ile)
c.3327G>A (p.Met1109Ile)
c.2508G>A (p.Met836Ile)
n.4059G>A
 COSMIC
13g.51937539_51937540insGTACA2695218756ATP7Bc.*1489_*1490insTAC (n.*1489_*1490insTAC)
c.*2583_*2584insTAC (n.*2583_*2584insTAC)
c.3218_3219insTAC (p.Met1073delinsIleThr)
c.3839_3840insTAC (p.Met1280delinsIleThr)
c.3506_3507insTAC (p.Met1169delinsIleThr)
c.3587_3588insTAC (p.Met1196delinsIleThr)
n.1080_1081insTAC
c.3605_3606insTAC (p.Met1202delinsIleThr)
n.3978_3979insTAC
n.705_706insTAC
c.2774_2775insTAC (p.Met925delinsIleThr)
c.2549_2550insTAC (p.Met850delinsIleThr)
c.3644_3645insTAC (p.Met1215delinsIleThr)
c.1617_1618insTAC
c.*940_*941insTAC (n.*940_*941insTAC)
n.4583_4584insTAC
n.3184_3185insTAC
c.3695_3696insTAC (p.Met1232delinsIleThr)
c.3743_3744insTAC (p.Met1248delinsIleThr)
c.3803_3804insTAC (p.Met1268delinsIleThr)
c.3353_3354insTAC (p.Met1118delinsIleThr)
c.1655_1656insTAC (p.Met552delinsIleThr)
c.1472_1473insTAC (p.Met491delinsIleThr)
c.3704_3705insTAC (p.Met1235delinsIleThr)
c.3656_3657insTAC (p.Met1219delinsIleThr)
c.3425_3426insTAC (p.Met1142delinsIleThr)
c.3326_3327insTAC (p.Met1109delinsIleThr)
c.2507_2508insTAC (p.Met836delinsIleThr)
n.4058_4059insTAC
13g.51937540A>CCA388021741ATP7Bc.*1489T>G (n.*1489T>G)
c.*2583T>G (n.*2583T>G)
c.3218T>G (p.Met1073Arg)
c.3839T>G (p.Met1280Arg)
c.3506T>G (p.Met1169Arg)
c.3587T>G (p.Met1196Arg)
n.1080T>G
c.3605T>G (p.Met1202Arg)
n.3978T>G
n.705T>G
c.2774T>G (p.Met925Arg)
c.2549T>G (p.Met850Arg)
c.3644T>G (p.Met1215Arg)
c.1617T>G
c.*940T>G (n.*940T>G)
n.4583T>G
n.3184T>G
c.3695T>G (p.Met1232Arg)
c.3743T>G (p.Met1248Arg)
c.3803T>G (p.Met1268Arg)
c.3353T>G (p.Met1118Arg)
c.1655T>G (p.Met552Arg)
c.1472T>G (p.Met491Arg)
c.3704T>G (p.Met1235Arg)
c.3656T>G (p.Met1219Arg)
c.3425T>G (p.Met1142Arg)
c.3326T>G (p.Met1109Arg)
c.2507T>G (p.Met836Arg)
n.4058T>G
13g.51937540A>GCA388021742ATP7Bc.*1489T>C (n.*1489T>C)
c.*2583T>C (n.*2583T>C)
c.3218T>C (p.Met1073Thr)
c.3839T>C (p.Met1280Thr)
c.3506T>C (p.Met1169Thr)
c.3587T>C (p.Met1196Thr)
n.1080T>C
c.3605T>C (p.Met1202Thr)
n.3978T>C
n.705T>C
c.2774T>C (p.Met925Thr)
c.2549T>C (p.Met850Thr)
c.3644T>C (p.Met1215Thr)
c.1617T>C
c.*940T>C (n.*940T>C)
n.4583T>C
n.3184T>C
c.3695T>C (p.Met1232Thr)
c.3743T>C (p.Met1248Thr)
c.3803T>C (p.Met1268Thr)
c.3353T>C (p.Met1118Thr)
c.1655T>C (p.Met552Thr)
c.1472T>C (p.Met491Thr)
c.3704T>C (p.Met1235Thr)
c.3656T>C (p.Met1219Thr)
c.3425T>C (p.Met1142Thr)
c.3326T>C (p.Met1109Thr)
c.2507T>C (p.Met836Thr)
n.4058T>C
13g.51937540A>TCA388021746ATP7Bc.*1489T>A (n.*1489T>A)
c.*2583T>A (n.*2583T>A)
c.3218T>A (p.Met1073Lys)
c.3839T>A (p.Met1280Lys)
c.3506T>A (p.Met1169Lys)
c.3587T>A (p.Met1196Lys)
n.1080T>A
c.3605T>A (p.Met1202Lys)
n.3978T>A
n.705T>A
c.2774T>A (p.Met925Lys)
c.2549T>A (p.Met850Lys)
c.3644T>A (p.Met1215Lys)
c.1617T>A
c.*940T>A (n.*940T>A)
n.4583T>A
n.3184T>A
c.3695T>A (p.Met1232Lys)
c.3743T>A (p.Met1248Lys)
c.3803T>A (p.Met1268Lys)
c.3353T>A (p.Met1118Lys)
c.1655T>A (p.Met552Lys)
c.1472T>A (p.Met491Lys)
c.3704T>A (p.Met1235Lys)
c.3656T>A (p.Met1219Lys)
c.3425T>A (p.Met1142Lys)
c.3326T>A (p.Met1109Lys)
c.2507T>A (p.Met836Lys)
n.4058T>A
13g.51937540_51937541delCA484024312ATP7Bc.*1488_*1489del (n.*1488_*1489del)
c.*2582_*2583del (n.*2582_*2583del)
c.3217_3218del (p.Met1073GlyfsTer23)
c.3838_3839del (p.Met1280GlyfsTer23)
c.3505_3506del (p.Met1169GlyfsTer23)
c.3586_3587del (p.Met1196GlyfsTer23)
n.1079_1080del
c.3604_3605del (p.Met1202GlyfsTer23)
n.3977_3978del
n.704_705del
c.2773_2774del (p.Met925GlyfsTer23)
c.2548_2549del (p.Met850GlyfsTer23)
c.3643_3644del (p.Met1215GlyfsTer23)
c.1616_1617del
c.*939_*940del (n.*939_*940del)
n.4582_4583del
n.3183_3184del
c.3694_3695del (p.Met1232GlyfsTer23)
c.3742_3743del (p.Met1248GlyfsTer23)
c.3802_3803del (p.Met1268GlyfsTer23)
c.3352_3353del (p.Met1118GlyfsTer23)
c.1654_1655del (p.Met552GlyfsTer23)
c.1471_1472del (p.Met491GlyfsTer23)
c.3703_3704del (p.Met1235GlyfsTer23)
c.3655_3656del (p.Met1219GlyfsTer23)
c.3424_3425del (p.Met1142GlyfsTer23)
c.3325_3326del (p.Met1109GlyfsTer23)
c.2506_2507del (p.Met836GlyfsTer23)
n.4057_4058del
 gnomAD v4
13g.51937541T>ACA388021749ATP7Bc.*1488A>T (n.*1488A>T)
c.*2582A>T (n.*2582A>T)
c.3217A>T (p.Met1073Leu)
c.3838A>T (p.Met1280Leu)
c.3505A>T (p.Met1169Leu)
c.3586A>T (p.Met1196Leu)
n.1079A>T
c.3604A>T (p.Met1202Leu)
n.3977A>T
n.704A>T
c.2773A>T (p.Met925Leu)
c.2548A>T (p.Met850Leu)
c.3643A>T (p.Met1215Leu)
c.1616A>T
c.*939A>T (n.*939A>T)
n.4582A>T
n.3183A>T
c.3694A>T (p.Met1232Leu)
c.3742A>T (p.Met1248Leu)
c.3802A>T (p.Met1268Leu)
c.3352A>T (p.Met1118Leu)
c.1654A>T (p.Met552Leu)
c.1471A>T (p.Met491Leu)
c.3703A>T (p.Met1235Leu)
c.3655A>T (p.Met1219Leu)
c.3424A>T (p.Met1142Leu)
c.3325A>T (p.Met1109Leu)
c.2506A>T (p.Met836Leu)
n.4057A>T
13g.51937541T>CCA388021751ATP7Bc.*1488A>G (n.*1488A>G)
c.*2582A>G (n.*2582A>G)
c.3217A>G (p.Met1073Val)
c.3838A>G (p.Met1280Val)
c.3505A>G (p.Met1169Val)
c.3586A>G (p.Met1196Val)
n.1079A>G
c.3604A>G (p.Met1202Val)
n.3977A>G
n.704A>G
c.2773A>G (p.Met925Val)
c.2548A>G (p.Met850Val)
c.3643A>G (p.Met1215Val)
c.1616A>G
c.*939A>G (n.*939A>G)
n.4582A>G
n.3183A>G
c.3694A>G (p.Met1232Val)
c.3742A>G (p.Met1248Val)
c.3802A>G (p.Met1268Val)
c.3352A>G (p.Met1118Val)
c.1654A>G (p.Met552Val)
c.1471A>G (p.Met491Val)
c.3703A>G (p.Met1235Val)
c.3655A>G (p.Met1219Val)
c.3424A>G (p.Met1142Val)
c.3325A>G (p.Met1109Val)
c.2506A>G (p.Met836Val)
n.4057A>G
13g.51937541T>GCA388021756ATP7Bc.*1488A>C (n.*1488A>C)
c.*2582A>C (n.*2582A>C)
c.3217A>C (p.Met1073Leu)
c.3838A>C (p.Met1280Leu)
c.3505A>C (p.Met1169Leu)
c.3586A>C (p.Met1196Leu)
n.1079A>C
c.3604A>C (p.Met1202Leu)
n.3977A>C
n.704A>C
c.2773A>C (p.Met925Leu)
c.2548A>C (p.Met850Leu)
c.3643A>C (p.Met1215Leu)
c.1616A>C
c.*939A>C (n.*939A>C)
n.4582A>C
n.3183A>C
c.3694A>C (p.Met1232Leu)
c.3742A>C (p.Met1248Leu)
c.3802A>C (p.Met1268Leu)
c.3352A>C (p.Met1118Leu)
c.1654A>C (p.Met552Leu)
c.1471A>C (p.Met491Leu)
c.3703A>C (p.Met1235Leu)
c.3655A>C (p.Met1219Leu)
c.3424A>C (p.Met1142Leu)
c.3325A>C (p.Met1109Leu)
c.2506A>C (p.Met836Leu)
n.4057A>C
13g.51937542delCA2560735406ATP7Bc.*1487del (n.*1487del)
c.*2581del (n.*2581del)
c.3216del (p.Asp1072GlufsTer?)
c.3837del (p.Asp1279GlufsTer?)
c.3504del (p.Asp1168GlufsTer?)
c.3585del (p.Asp1195GlufsTer?)
n.1078del
c.3603del (p.Asp1201GlufsTer?)
n.3976del
n.703del
c.2772del (p.Asp924GlufsTer?)
c.2547del (p.Asp849GlufsTer?)
c.3642del (p.Asp1214GlufsTer?)
c.1615del
c.*938del (n.*938del)
n.4581del
n.3182del
c.3693del (p.Asp1231GlufsTer?)
c.3741del (p.Asp1247GlufsTer?)
c.3801del (p.Asp1267GlufsTer?)
c.3351del (p.Asp1117GlufsTer?)
c.1653del (p.Asp551GlufsTer?)
c.1470del (p.Asp490GlufsTer?)
c.3702del (p.Asp1234GlufsTer?)
c.3654del (p.Asp1218GlufsTer?)
c.3423del (p.Asp1141GlufsTer?)
c.3324del (p.Asp1108GlufsTer?)
c.2505del (p.Asp835GlufsTer?)
n.4056del
13g.51937542G>ACA484024313ATP7Bc.*1487C>T (n.*1487C>T)
c.*2581C>T (n.*2581C>T)
c.3216C>T (p.Asp1072=)
c.3837C>T (p.Asp1279=)
c.3504C>T (p.Asp1168=)
c.3585C>T (p.Asp1195=)
n.1078C>T
c.3603C>T (p.Asp1201=)
n.3976C>T
n.703C>T
c.2772C>T (p.Asp924=)
c.2547C>T (p.Asp849=)
c.3642C>T (p.Asp1214=)
c.1615C>T
c.*938C>T (n.*938C>T)
n.4581C>T
n.3182C>T
c.3693C>T (p.Asp1231=)
c.3741C>T (p.Asp1247=)
c.3801C>T (p.Asp1267=)
c.3351C>T (p.Asp1117=)
c.1653C>T (p.Asp551=)
c.1470C>T (p.Asp490=)
c.3702C>T (p.Asp1234=)
c.3654C>T (p.Asp1218=)
c.3423C>T (p.Asp1141=)
c.3324C>T (p.Asp1108=)
c.2505C>T (p.Asp835=)
n.4056C>T
13g.51937542G>CCA388021769ATP7Bc.*1487C>G (n.*1487C>G)
c.*2581C>G (n.*2581C>G)
c.3216C>G (p.Asp1072Glu)
c.3837C>G (p.Asp1279Glu)
c.3504C>G (p.Asp1168Glu)
c.3585C>G (p.Asp1195Glu)
n.1078C>G
c.3603C>G (p.Asp1201Glu)
n.3976C>G
n.703C>G
c.2772C>G (p.Asp924Glu)
c.2547C>G (p.Asp849Glu)
c.3642C>G (p.Asp1214Glu)
c.1615C>G
c.*938C>G (n.*938C>G)
n.4581C>G
n.3182C>G
c.3693C>G (p.Asp1231Glu)
c.3741C>G (p.Asp1247Glu)
c.3801C>G (p.Asp1267Glu)
c.3351C>G (p.Asp1117Glu)
c.1653C>G (p.Asp551Glu)
c.1470C>G (p.Asp490Glu)
c.3702C>G (p.Asp1234Glu)
c.3654C>G (p.Asp1218Glu)
c.3423C>G (p.Asp1141Glu)
c.3324C>G (p.Asp1108Glu)
c.2505C>G (p.Asp835Glu)
n.4056C>G
13g.51937542G>TCA388021765ATP7Bc.*1487C>A (n.*1487C>A)
c.*2581C>A (n.*2581C>A)
c.3216C>A (p.Asp1072Glu)
c.3837C>A (p.Asp1279Glu)
c.3504C>A (p.Asp1168Glu)
c.3585C>A (p.Asp1195Glu)
n.1078C>A
c.3603C>A (p.Asp1201Glu)
n.3976C>A
n.703C>A
c.2772C>A (p.Asp924Glu)
c.2547C>A (p.Asp849Glu)
c.3642C>A (p.Asp1214Glu)
c.1615C>A
c.*938C>A (n.*938C>A)
n.4581C>A
n.3182C>A
c.3693C>A (p.Asp1231Glu)
c.3741C>A (p.Asp1247Glu)
c.3801C>A (p.Asp1267Glu)
c.3351C>A (p.Asp1117Glu)
c.1653C>A (p.Asp551Glu)
c.1470C>A (p.Asp490Glu)
c.3702C>A (p.Asp1234Glu)
c.3654C>A (p.Asp1218Glu)
c.3423C>A (p.Asp1141Glu)
c.3324C>A (p.Asp1108Glu)
c.2505C>A (p.Asp835Glu)
n.4056C>A
13g.51937542_51937544delCA2537018413ATP7Bc.*1485_*1487del (n.*1485_*1487del)
c.*2579_*2581del (n.*2579_*2581del)
c.3214_3216del (p.Asp1072del)
c.3835_3837del (p.Asp1279del)
c.3502_3504del (p.Asp1168del)
c.3583_3585del (p.Asp1195del)
n.1076_1078del
c.3601_3603del (p.Asp1201del)
n.3974_3976del
n.701_703del
c.2770_2772del (p.Asp924del)
c.2545_2547del (p.Asp849del)
c.3640_3642del (p.Asp1214del)
c.1613_1615del
c.*936_*938del (n.*936_*938del)
n.4579_4581del
n.3180_3182del
c.3691_3693del (p.Asp1231del)
c.3739_3741del (p.Asp1247del)
c.3799_3801del (p.Asp1267del)
c.3349_3351del (p.Asp1117del)
c.1651_1653del (p.Asp551del)
c.1468_1470del (p.Asp490del)
c.3700_3702del (p.Asp1234del)
c.3652_3654del (p.Asp1218del)
c.3421_3423del (p.Asp1141del)
c.3322_3324del (p.Asp1108del)
c.2503_2505del (p.Asp835del)
n.4054_4056del
13g.51937543T>ACA388021771ATP7Bc.*1486A>T (n.*1486A>T)
c.*2580A>T (n.*2580A>T)
c.3215A>T (p.Asp1072Val)
c.3836A>T (p.Asp1279Val)
c.3503A>T (p.Asp1168Val)
c.3584A>T (p.Asp1195Val)
n.1077A>T
c.3602A>T (p.Asp1201Val)
n.3975A>T
n.702A>T
c.2771A>T (p.Asp924Val)
c.2546A>T (p.Asp849Val)
c.3641A>T (p.Asp1214Val)
c.1614A>T
c.*937A>T (n.*937A>T)
n.4580A>T
n.3181A>T
c.3692A>T (p.Asp1231Val)
c.3740A>T (p.Asp1247Val)
c.3800A>T (p.Asp1267Val)
c.3350A>T (p.Asp1117Val)
c.1652A>T (p.Asp551Val)
c.1469A>T (p.Asp490Val)
c.3701A>T (p.Asp1234Val)
c.3653A>T (p.Asp1218Val)
c.3422A>T (p.Asp1141Val)
c.3323A>T (p.Asp1108Val)
c.2504A>T (p.Asp835Val)
n.4055A>T
13g.51937543T>CCA6988563ATP7Bc.*1486A>G (n.*1486A>G)
c.*2580A>G (n.*2580A>G)
c.3215A>G (p.Asp1072Gly)
c.3836A>G (p.Asp1279Gly)
c.3503A>G (p.Asp1168Gly)
c.3584A>G (p.Asp1195Gly)
n.1077A>G
c.3602A>G (p.Asp1201Gly)
n.3975A>G
n.702A>G
c.2771A>G (p.Asp924Gly)
c.2546A>G (p.Asp849Gly)
c.3641A>G (p.Asp1214Gly)
c.1614A>G
c.*937A>G (n.*937A>G)
n.4580A>G
n.3181A>G
c.3692A>G (p.Asp1231Gly)
c.3740A>G (p.Asp1247Gly)
c.3800A>G (p.Asp1267Gly)
c.3350A>G (p.Asp1117Gly)
c.1652A>G (p.Asp551Gly)
c.1469A>G (p.Asp490Gly)
c.3701A>G (p.Asp1234Gly)
c.3653A>G (p.Asp1218Gly)
c.3422A>G (p.Asp1141Gly)
c.3323A>G (p.Asp1108Gly)
c.2504A>G (p.Asp835Gly)
n.4055A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51937543T>GCA388021774ATP7Bc.*1486A>C (n.*1486A>C)
c.*2580A>C (n.*2580A>C)
c.3215A>C (p.Asp1072Ala)
c.3836A>C (p.Asp1279Ala)
c.3503A>C (p.Asp1168Ala)
c.3584A>C (p.Asp1195Ala)
n.1077A>C
c.3602A>C (p.Asp1201Ala)
n.3975A>C
n.702A>C
c.2771A>C (p.Asp924Ala)
c.2546A>C (p.Asp849Ala)
c.3641A>C (p.Asp1214Ala)
c.1614A>C
c.*937A>C (n.*937A>C)
n.4580A>C
n.3181A>C
c.3692A>C (p.Asp1231Ala)
c.3740A>C (p.Asp1247Ala)
c.3800A>C (p.Asp1267Ala)
c.3350A>C (p.Asp1117Ala)
c.1652A>C (p.Asp551Ala)
c.1469A>C (p.Asp490Ala)
c.3701A>C (p.Asp1234Ala)
c.3653A>C (p.Asp1218Ala)
c.3422A>C (p.Asp1141Ala)
c.3323A>C (p.Asp1108Ala)
c.2504A>C (p.Asp835Ala)
n.4055A>C
 dbSNP
13g.51937543T=CA2091553932ATP7Bc.*1486A= (n.*1486A=)
c.*2580A= (n.*2580A=)
c.3215A= (p.Asp1072=)
c.3836A= (p.Asp1279=)
c.3503A= (p.Asp1168=)
c.3584A= (p.Asp1195=)
n.1077A=
c.3602A= (p.Asp1201=)
n.3975A=
n.702A=
c.2771A= (p.Asp924=)
c.2546A= (p.Asp849=)
c.3641A= (p.Asp1214=)
c.1614A=
c.*937A= (n.*937A=)
n.4580A=
n.3181A=
c.3692A= (p.Asp1231=)
c.3740A= (p.Asp1247=)
c.3800A= (p.Asp1267=)
c.3350A= (p.Asp1117=)
c.1652A= (p.Asp551=)
c.1469A= (p.Asp490=)
c.3701A= (p.Asp1234=)
c.3653A= (p.Asp1218=)
c.3422A= (p.Asp1141=)
c.3323A= (p.Asp1108=)
c.2504A= (p.Asp835=)
n.4055A=
13g.51937543dupCA2580614734ATP7Bc.*1486dup (n.*1486dup)
c.*2580dup (n.*2580dup)
c.3215dup (p.Asp1072GlufsTer25)
c.3836dup (p.Asp1279GlufsTer25)
c.3503dup (p.Asp1168GlufsTer25)
c.3584dup (p.Asp1195GlufsTer25)
n.1077dup
c.3602dup (p.Asp1201GlufsTer25)
n.3975dup
n.702dup
c.2771dup (p.Asp924GlufsTer25)
c.2546dup (p.Asp849GlufsTer25)
c.3641dup (p.Asp1214GlufsTer25)
c.1614dup
c.*937dup (n.*937dup)
n.4580dup
n.3181dup
c.3692dup (p.Asp1231GlufsTer25)
c.3740dup (p.Asp1247GlufsTer25)
c.3800dup (p.Asp1267GlufsTer25)
c.3350dup (p.Asp1117GlufsTer25)
c.1652dup (p.Asp551GlufsTer25)
c.1469dup (p.Asp490GlufsTer25)
c.3701dup (p.Asp1234GlufsTer25)
c.3653dup (p.Asp1218GlufsTer25)
c.3422dup (p.Asp1141GlufsTer25)
c.3323dup (p.Asp1108GlufsTer25)
c.2504dup (p.Asp835GlufsTer25)
n.4055dup
 ClinVar
13g.51937544C>ACA388021779ATP7Bc.*1485G>T (n.*1485G>T)
c.*2579G>T (n.*2579G>T)
c.3214G>T (p.Asp1072Tyr)
c.3835G>T (p.Asp1279Tyr)
c.3502G>T (p.Asp1168Tyr)
c.3583G>T (p.Asp1195Tyr)
n.1076G>T
c.3601G>T (p.Asp1201Tyr)
n.3974G>T
n.701G>T
c.2770G>T (p.Asp924Tyr)
c.2545G>T (p.Asp849Tyr)
c.3640G>T (p.Asp1214Tyr)
c.1613G>T
c.*936G>T (n.*936G>T)
n.4579G>T
n.3180G>T
c.3691G>T (p.Asp1231Tyr)
c.3739G>T (p.Asp1247Tyr)
c.3799G>T (p.Asp1267Tyr)
c.3349G>T (p.Asp1117Tyr)
c.1651G>T (p.Asp551Tyr)
c.1468G>T (p.Asp490Tyr)
c.3700G>T (p.Asp1234Tyr)
c.3652G>T (p.Asp1218Tyr)
c.3421G>T (p.Asp1141Tyr)
c.3322G>T (p.Asp1108Tyr)
c.2503G>T (p.Asp835Tyr)
n.4054G>T
13g.51937544C>GCA388021782ATP7Bc.*1485G>C (n.*1485G>C)
c.*2579G>C (n.*2579G>C)
c.3214G>C (p.Asp1072His)
c.3835G>C (p.Asp1279His)
c.3502G>C (p.Asp1168His)
c.3583G>C (p.Asp1195His)
n.1076G>C
c.3601G>C (p.Asp1201His)
n.3974G>C
n.701G>C
c.2770G>C (p.Asp924His)
c.2545G>C (p.Asp849His)
c.3640G>C (p.Asp1214His)
c.1613G>C
c.*936G>C (n.*936G>C)
n.4579G>C
n.3180G>C
c.3691G>C (p.Asp1231His)
c.3739G>C (p.Asp1247His)
c.3799G>C (p.Asp1267His)
c.3349G>C (p.Asp1117His)
c.1651G>C (p.Asp551His)
c.1468G>C (p.Asp490His)
c.3700G>C (p.Asp1234His)
c.3652G>C (p.Asp1218His)
c.3421G>C (p.Asp1141His)
c.3322G>C (p.Asp1108His)
c.2503G>C (p.Asp835His)
n.4054G>C
13g.51937544C>TCA388021784ATP7Bc.*1485G>A (n.*1485G>A)
c.*2579G>A (n.*2579G>A)
c.3214G>A (p.Asp1072Asn)
c.3835G>A (p.Asp1279Asn)
c.3502G>A (p.Asp1168Asn)
c.3583G>A (p.Asp1195Asn)
n.1076G>A
c.3601G>A (p.Asp1201Asn)
n.3974G>A
n.701G>A
c.2770G>A (p.Asp924Asn)
c.2545G>A (p.Asp849Asn)
c.3640G>A (p.Asp1214Asn)
c.1613G>A
c.*936G>A (n.*936G>A)
n.4579G>A
n.3180G>A
c.3691G>A (p.Asp1231Asn)
c.3739G>A (p.Asp1247Asn)
c.3799G>A (p.Asp1267Asn)
c.3349G>A (p.Asp1117Asn)
c.1651G>A (p.Asp551Asn)
c.1468G>A (p.Asp490Asn)
c.3700G>A (p.Asp1234Asn)
c.3652G>A (p.Asp1218Asn)
c.3421G>A (p.Asp1141Asn)
c.3322G>A (p.Asp1108Asn)
c.2503G>A (p.Asp835Asn)
n.4054G>A
13g.51937545delCA2548239757ATP7Bc.*1484del (n.*1484del)
c.*2578del (n.*2578del)
c.3213del (p.Asp1072ThrfsTer?)
c.3834del (p.Asp1279ThrfsTer?)
c.3501del (p.Asp1168ThrfsTer?)
c.3582del (p.Asp1195ThrfsTer?)
n.1075del
c.3600del (p.Asp1201ThrfsTer?)
n.3973del
n.700del
c.2769del (p.Asp924ThrfsTer?)
c.2544del (p.Asp849ThrfsTer?)
c.3639del (p.Asp1214ThrfsTer?)
c.1612del
c.*935del (n.*935del)
n.4578del
n.3179del
c.3690del (p.Asp1231ThrfsTer?)
c.3738del (p.Asp1247ThrfsTer?)
c.3798del (p.Asp1267ThrfsTer?)
c.3348del (p.Asp1117ThrfsTer?)
c.1650del (p.Asp551ThrfsTer?)
c.1467del (p.Asp490ThrfsTer?)
c.3699del (p.Asp1234ThrfsTer?)
c.3651del (p.Asp1218ThrfsTer?)
c.3420del (p.Asp1141ThrfsTer?)
c.3321del (p.Asp1108ThrfsTer?)
c.2502del (p.Asp835ThrfsTer?)
n.4053del
13g.51937545T>ACA484024314ATP7Bc.*1484A>T (n.*1484A>T)
c.*2578A>T (n.*2578A>T)
c.3213A>T (p.Ala1071=)
c.3834A>T (p.Ala1278=)
c.3501A>T (p.Ala1167=)
c.3582A>T (p.Ala1194=)
n.1075A>T
c.3600A>T (p.Ala1200=)
n.3973A>T
n.700A>T
c.2769A>T (p.Ala923=)
c.2544A>T (p.Ala848=)
c.3639A>T (p.Ala1213=)
c.1612A>T
c.*935A>T (n.*935A>T)
n.4578A>T
n.3179A>T
c.3690A>T (p.Ala1230=)
c.3738A>T (p.Ala1246=)
c.3798A>T (p.Ala1266=)
c.3348A>T (p.Ala1116=)
c.1650A>T (p.Ala550=)
c.1467A>T (p.Ala489=)
c.3699A>T (p.Ala1233=)
c.3651A>T (p.Ala1217=)
c.3420A>T (p.Ala1140=)
c.3321A>T (p.Ala1107=)
c.2502A>T (p.Ala834=)
n.4053A>T
13g.51937545T>CCA484024315ATP7Bc.*1484A>G (n.*1484A>G)
c.*2578A>G (n.*2578A>G)
c.3213A>G (p.Ala1071=)
c.3834A>G (p.Ala1278=)
c.3501A>G (p.Ala1167=)
c.3582A>G (p.Ala1194=)
n.1075A>G
c.3600A>G (p.Ala1200=)
n.3973A>G
n.700A>G
c.2769A>G (p.Ala923=)
c.2544A>G (p.Ala848=)
c.3639A>G (p.Ala1213=)
c.1612A>G
c.*935A>G (n.*935A>G)
n.4578A>G
n.3179A>G
c.3690A>G (p.Ala1230=)
c.3738A>G (p.Ala1246=)
c.3798A>G (p.Ala1266=)
c.3348A>G (p.Ala1116=)
c.1650A>G (p.Ala550=)
c.1467A>G (p.Ala489=)
c.3699A>G (p.Ala1233=)
c.3651A>G (p.Ala1217=)
c.3420A>G (p.Ala1140=)
c.3321A>G (p.Ala1107=)
c.2502A>G (p.Ala834=)
n.4053A>G
 ClinVar
13g.51937545T>GCA484024316ATP7Bc.*1484A>C (n.*1484A>C)
c.*2578A>C (n.*2578A>C)
c.3213A>C (p.Ala1071=)
c.3834A>C (p.Ala1278=)
c.3501A>C (p.Ala1167=)
c.3582A>C (p.Ala1194=)
n.1075A>C
c.3600A>C (p.Ala1200=)
n.3973A>C
n.700A>C
c.2769A>C (p.Ala923=)
c.2544A>C (p.Ala848=)
c.3639A>C (p.Ala1213=)
c.1612A>C
c.*935A>C (n.*935A>C)
n.4578A>C
n.3179A>C
c.3690A>C (p.Ala1230=)
c.3738A>C (p.Ala1246=)
c.3798A>C (p.Ala1266=)
c.3348A>C (p.Ala1116=)
c.1650A>C (p.Ala550=)
c.1467A>C (p.Ala489=)
c.3699A>C (p.Ala1233=)
c.3651A>C (p.Ala1217=)
c.3420A>C (p.Ala1140=)
c.3321A>C (p.Ala1107=)
c.2502A>C (p.Ala834=)
n.4053A>C
13g.51937546G>ACA388021788ATP7Bc.*1483C>T (n.*1483C>T)
c.*2577C>T (n.*2577C>T)
c.3212C>T (p.Ala1071Val)
c.3833C>T (p.Ala1278Val)
c.3500C>T (p.Ala1167Val)
c.3581C>T (p.Ala1194Val)
n.1074C>T
c.3599C>T (p.Ala1200Val)
n.3972C>T
n.699C>T
c.2768C>T (p.Ala923Val)
c.2543C>T (p.Ala848Val)
c.3638C>T (p.Ala1213Val)
c.1611C>T
c.*934C>T (n.*934C>T)
n.4577C>T
n.3178C>T
c.3689C>T (p.Ala1230Val)
c.3737C>T (p.Ala1246Val)
c.3797C>T (p.Ala1266Val)
c.3347C>T (p.Ala1116Val)
c.1649C>T (p.Ala550Val)
c.1466C>T (p.Ala489Val)
c.3698C>T (p.Ala1233Val)
c.3650C>T (p.Ala1217Val)
c.3419C>T (p.Ala1140Val)
c.3320C>T (p.Ala1107Val)
c.2501C>T (p.Ala834Val)
n.4052C>T
 ClinVar dbSNP gnomAD v4
13g.51937546G>CCA388021791ATP7Bc.*1483C>G (n.*1483C>G)
c.*2577C>G (n.*2577C>G)
c.3212C>G (p.Ala1071Gly)
c.3833C>G (p.Ala1278Gly)
c.3500C>G (p.Ala1167Gly)
c.3581C>G (p.Ala1194Gly)
n.1074C>G
c.3599C>G (p.Ala1200Gly)
n.3972C>G
n.699C>G
c.2768C>G (p.Ala923Gly)
c.2543C>G (p.Ala848Gly)
c.3638C>G (p.Ala1213Gly)
c.1611C>G
c.*934C>G (n.*934C>G)
n.4577C>G
n.3178C>G
c.3689C>G (p.Ala1230Gly)
c.3737C>G (p.Ala1246Gly)
c.3797C>G (p.Ala1266Gly)
c.3347C>G (p.Ala1116Gly)
c.1649C>G (p.Ala550Gly)
c.1466C>G (p.Ala489Gly)
c.3698C>G (p.Ala1233Gly)
c.3650C>G (p.Ala1217Gly)
c.3419C>G (p.Ala1140Gly)
c.3320C>G (p.Ala1107Gly)
c.2501C>G (p.Ala834Gly)
n.4052C>G
 dbSNP gnomAD v2 gnomAD v4
13g.51937546G=CA2091553946ATP7Bc.*1483C= (n.*1483C=)
c.*2577C= (n.*2577C=)
c.3212C= (p.Ala1071=)
c.3833C= (p.Ala1278=)
c.3500C= (p.Ala1167=)
c.3581C= (p.Ala1194=)
n.1074C=
c.3599C= (p.Ala1200=)
n.3972C=
n.699C=
c.2768C= (p.Ala923=)
c.2543C= (p.Ala848=)
c.3638C= (p.Ala1213=)
c.1611C=
c.*934C= (n.*934C=)
n.4577C=
n.3178C=
c.3689C= (p.Ala1230=)
c.3737C= (p.Ala1246=)
c.3797C= (p.Ala1266=)
c.3347C= (p.Ala1116=)
c.1649C= (p.Ala550=)
c.1466C= (p.Ala489=)
c.3698C= (p.Ala1233=)
c.3650C= (p.Ala1217=)
c.3419C= (p.Ala1140=)
c.3320C= (p.Ala1107=)
c.2501C= (p.Ala834=)
n.4052C=
13g.51937546G>TCA388021789ATP7Bc.*1483C>A (n.*1483C>A)
c.*2577C>A (n.*2577C>A)
c.3212C>A (p.Ala1071Glu)
c.3833C>A (p.Ala1278Glu)
c.3500C>A (p.Ala1167Glu)
c.3581C>A (p.Ala1194Glu)
n.1074C>A
c.3599C>A (p.Ala1200Glu)
n.3972C>A
n.699C>A
c.2768C>A (p.Ala923Glu)
c.2543C>A (p.Ala848Glu)
c.3638C>A (p.Ala1213Glu)
c.1611C>A
c.*934C>A (n.*934C>A)
n.4577C>A
n.3178C>A
c.3689C>A (p.Ala1230Glu)
c.3737C>A (p.Ala1246Glu)
c.3797C>A (p.Ala1266Glu)
c.3347C>A (p.Ala1116Glu)
c.1649C>A (p.Ala550Glu)
c.1466C>A (p.Ala489Glu)
c.3698C>A (p.Ala1233Glu)
c.3650C>A (p.Ala1217Glu)
c.3419C>A (p.Ala1140Glu)
c.3320C>A (p.Ala1107Glu)
c.2501C>A (p.Ala834Glu)
n.4052C>A
13g.51937547C>ACA388021794ATP7Bc.*1482G>T (n.*1482G>T)
c.*2576G>T (n.*2576G>T)
c.3211G>T (p.Ala1071Ser)
c.3832G>T (p.Ala1278Ser)
c.3499G>T (p.Ala1167Ser)
c.3580G>T (p.Ala1194Ser)
n.1073G>T
c.3598G>T (p.Ala1200Ser)
n.3971G>T
n.698G>T
c.2767G>T (p.Ala923Ser)
c.2542G>T (p.Ala848Ser)
c.3637G>T (p.Ala1213Ser)
c.1610G>T
c.*933G>T (n.*933G>T)
n.4576G>T
n.3177G>T
c.3688G>T (p.Ala1230Ser)
c.3736G>T (p.Ala1246Ser)
c.3796G>T (p.Ala1266Ser)
c.3346G>T (p.Ala1116Ser)
c.1648G>T (p.Ala550Ser)
c.1465G>T (p.Ala489Ser)
c.3697G>T (p.Ala1233Ser)
c.3649G>T (p.Ala1217Ser)
c.3418G>T (p.Ala1140Ser)
c.3319G>T (p.Ala1107Ser)
c.2500G>T (p.Ala834Ser)
n.4051G>T
13g.51937547C>GCA388021798ATP7Bc.*1482G>C (n.*1482G>C)
c.*2576G>C (n.*2576G>C)
c.3211G>C (p.Ala1071Pro)
c.3832G>C (p.Ala1278Pro)
c.3499G>C (p.Ala1167Pro)
c.3580G>C (p.Ala1194Pro)
n.1073G>C
c.3598G>C (p.Ala1200Pro)
n.3971G>C
n.698G>C
c.2767G>C (p.Ala923Pro)
c.2542G>C (p.Ala848Pro)
c.3637G>C (p.Ala1213Pro)
c.1610G>C
c.*933G>C (n.*933G>C)
n.4576G>C
n.3177G>C
c.3688G>C (p.Ala1230Pro)
c.3736G>C (p.Ala1246Pro)
c.3796G>C (p.Ala1266Pro)
c.3346G>C (p.Ala1116Pro)
c.1648G>C (p.Ala550Pro)
c.1465G>C (p.Ala489Pro)
c.3697G>C (p.Ala1233Pro)
c.3649G>C (p.Ala1217Pro)
c.3418G>C (p.Ala1140Pro)
c.3319G>C (p.Ala1107Pro)
c.2500G>C (p.Ala834Pro)
n.4051G>C
13g.51937547C>TCA388021802ATP7Bc.*1482G>A (n.*1482G>A)
c.*2576G>A (n.*2576G>A)
c.3211G>A (p.Ala1071Thr)
c.3832G>A (p.Ala1278Thr)
c.3499G>A (p.Ala1167Thr)
c.3580G>A (p.Ala1194Thr)
n.1073G>A
c.3598G>A (p.Ala1200Thr)
n.3971G>A
n.698G>A
c.2767G>A (p.Ala923Thr)
c.2542G>A (p.Ala848Thr)
c.3637G>A (p.Ala1213Thr)
c.1610G>A
c.*933G>A (n.*933G>A)
n.4576G>A
n.3177G>A
c.3688G>A (p.Ala1230Thr)
c.3736G>A (p.Ala1246Thr)
c.3796G>A (p.Ala1266Thr)
c.3346G>A (p.Ala1116Thr)
c.1648G>A (p.Ala550Thr)
c.1465G>A (p.Ala489Thr)
c.3697G>A (p.Ala1233Thr)
c.3649G>A (p.Ala1217Thr)
c.3418G>A (p.Ala1140Thr)
c.3319G>A (p.Ala1107Thr)
c.2500G>A (p.Ala834Thr)
n.4051G>A
 gnomAD v4
13g.51937548C>ACA388021806ATP7Bc.*1481G>T (n.*1481G>T)
c.*2575G>T (n.*2575G>T)
c.3210G>T (p.Gln1070His)
c.3831G>T (p.Gln1277His)
c.3498G>T (p.Gln1166His)
c.3579G>T (p.Gln1193His)
n.1072G>T
c.3597G>T (p.Gln1199His)
n.3970G>T
n.697G>T
c.2766G>T (p.Gln922His)
c.2541G>T (p.Gln847His)
c.3636G>T (p.Gln1212His)
c.1609G>T
c.*932G>T (n.*932G>T)
n.4575G>T
n.3176G>T
c.3687G>T (p.Gln1229His)
c.3735G>T (p.Gln1245His)
c.3795G>T (p.Gln1265His)
c.3345G>T (p.Gln1115His)
c.1647G>T (p.Gln549His)
c.1464G>T (p.Gln488His)
c.3696G>T (p.Gln1232His)
c.3648G>T (p.Gln1216His)
c.3417G>T (p.Gln1139His)
c.3318G>T (p.Gln1106His)
c.2499G>T (p.Gln833His)
n.4050G>T
13g.51937548C>GCA388021809ATP7Bc.*1481G>C (n.*1481G>C)
c.*2575G>C (n.*2575G>C)
c.3210G>C (p.Gln1070His)
c.3831G>C (p.Gln1277His)
c.3498G>C (p.Gln1166His)
c.3579G>C (p.Gln1193His)
n.1072G>C
c.3597G>C (p.Gln1199His)
n.3970G>C
n.697G>C
c.2766G>C (p.Gln922His)
c.2541G>C (p.Gln847His)
c.3636G>C (p.Gln1212His)
c.1609G>C
c.*932G>C (n.*932G>C)
n.4575G>C
n.3176G>C
c.3687G>C (p.Gln1229His)
c.3735G>C (p.Gln1245His)
c.3795G>C (p.Gln1265His)
c.3345G>C (p.Gln1115His)
c.1647G>C (p.Gln549His)
c.1464G>C (p.Gln488His)
c.3696G>C (p.Gln1232His)
c.3648G>C (p.Gln1216His)
c.3417G>C (p.Gln1139His)
c.3318G>C (p.Gln1106His)
c.2499G>C (p.Gln833His)
n.4050G>C
13g.51937548C>TCA484024317ATP7Bc.*1481G>A (n.*1481G>A)
c.*2575G>A (n.*2575G>A)
c.3210G>A (p.Gln1070=)
c.3831G>A (p.Gln1277=)
c.3498G>A (p.Gln1166=)
c.3579G>A (p.Gln1193=)
n.1072G>A
c.3597G>A (p.Gln1199=)
n.3970G>A
n.697G>A
c.2766G>A (p.Gln922=)
c.2541G>A (p.Gln847=)
c.3636G>A (p.Gln1212=)
c.1609G>A
c.*932G>A (n.*932G>A)
n.4575G>A
n.3176G>A
c.3687G>A (p.Gln1229=)
c.3735G>A (p.Gln1245=)
c.3795G>A (p.Gln1265=)
c.3345G>A (p.Gln1115=)
c.1647G>A (p.Gln549=)
c.1464G>A (p.Gln488=)
c.3696G>A (p.Gln1232=)
c.3648G>A (p.Gln1216=)
c.3417G>A (p.Gln1139=)
c.3318G>A (p.Gln1106=)
c.2499G>A (p.Gln833=)
n.4050G>A
13g.51937549T>ACA388021813ATP7Bc.*1480A>T (n.*1480A>T)
c.*2574A>T (n.*2574A>T)
c.3209A>T (p.Gln1070Leu)
c.3830A>T (p.Gln1277Leu)
c.3497A>T (p.Gln1166Leu)
c.3578A>T (p.Gln1193Leu)
n.1071A>T
c.3596A>T (p.Gln1199Leu)
n.3969A>T
n.696A>T
c.2765A>T (p.Gln922Leu)
c.2540A>T (p.Gln847Leu)
c.3635A>T (p.Gln1212Leu)
c.1608A>T
c.*931A>T (n.*931A>T)
n.4574A>T
n.3175A>T
c.3686A>T (p.Gln1229Leu)
c.3734A>T (p.Gln1245Leu)
c.3794A>T (p.Gln1265Leu)
c.3344A>T (p.Gln1115Leu)
c.1646A>T (p.Gln549Leu)
c.1463A>T (p.Gln488Leu)
c.3695A>T (p.Gln1232Leu)
c.3647A>T (p.Gln1216Leu)
c.3416A>T (p.Gln1139Leu)
c.3317A>T (p.Gln1106Leu)
c.2498A>T (p.Gln833Leu)
n.4049A>T
13g.51937549T>CCA388021816ATP7Bc.*1480A>G (n.*1480A>G)
c.*2574A>G (n.*2574A>G)
c.3209A>G (p.Gln1070Arg)
c.3830A>G (p.Gln1277Arg)
c.3497A>G (p.Gln1166Arg)
c.3578A>G (p.Gln1193Arg)
n.1071A>G
c.3596A>G (p.Gln1199Arg)
n.3969A>G
n.696A>G
c.2765A>G (p.Gln922Arg)
c.2540A>G (p.Gln847Arg)
c.3635A>G (p.Gln1212Arg)
c.1608A>G
c.*931A>G (n.*931A>G)
n.4574A>G
n.3175A>G
c.3686A>G (p.Gln1229Arg)
c.3734A>G (p.Gln1245Arg)
c.3794A>G (p.Gln1265Arg)
c.3344A>G (p.Gln1115Arg)
c.1646A>G (p.Gln549Arg)
c.1463A>G (p.Gln488Arg)
c.3695A>G (p.Gln1232Arg)
c.3647A>G (p.Gln1216Arg)
c.3416A>G (p.Gln1139Arg)
c.3317A>G (p.Gln1106Arg)
c.2498A>G (p.Gln833Arg)
n.4049A>G
13g.51937549T>GCA388021818ATP7Bc.*1480A>C (n.*1480A>C)
c.*2574A>C (n.*2574A>C)
c.3209A>C (p.Gln1070Pro)
c.3830A>C (p.Gln1277Pro)
c.3497A>C (p.Gln1166Pro)
c.3578A>C (p.Gln1193Pro)
n.1071A>C
c.3596A>C (p.Gln1199Pro)
n.3969A>C
n.696A>C
c.2765A>C (p.Gln922Pro)
c.2540A>C (p.Gln847Pro)
c.3635A>C (p.Gln1212Pro)
c.1608A>C
c.*931A>C (n.*931A>C)
n.4574A>C
n.3175A>C
c.3686A>C (p.Gln1229Pro)
c.3734A>C (p.Gln1245Pro)
c.3794A>C (p.Gln1265Pro)
c.3344A>C (p.Gln1115Pro)
c.1646A>C (p.Gln549Pro)
c.1463A>C (p.Gln488Pro)
c.3695A>C (p.Gln1232Pro)
c.3647A>C (p.Gln1216Pro)
c.3416A>C (p.Gln1139Pro)
c.3317A>C (p.Gln1106Pro)
c.2498A>C (p.Gln833Pro)
n.4049A>C
13g.51937549_51937550delCA2507661316ATP7Bc.*1479_*1480del (n.*1479_*1480del)
c.*2573_*2574del (n.*2573_*2574del)
c.3208_3209del (p.Gln1070GlyfsTer26)
c.3829_3830del (p.Gln1277GlyfsTer26)
c.3496_3497del (p.Gln1166GlyfsTer26)
c.3577_3578del (p.Gln1193GlyfsTer26)
n.1070_1071del
c.3595_3596del (p.Gln1199GlyfsTer26)
n.3968_3969del
n.695_696del
c.2764_2765del (p.Gln922GlyfsTer26)
c.2539_2540del (p.Gln847GlyfsTer26)
c.3634_3635del (p.Gln1212GlyfsTer26)
c.1607_1608del
c.*930_*931del (n.*930_*931del)
n.4573_4574del
n.3174_3175del
c.3685_3686del (p.Gln1229GlyfsTer26)
c.3733_3734del (p.Gln1245GlyfsTer26)
c.3793_3794del (p.Gln1265GlyfsTer26)
c.3343_3344del (p.Gln1115GlyfsTer26)
c.1645_1646del (p.Gln549GlyfsTer26)
c.1462_1463del (p.Gln488GlyfsTer26)
c.3694_3695del (p.Gln1232GlyfsTer26)
c.3646_3647del (p.Gln1216GlyfsTer26)
c.3415_3416del (p.Gln1139GlyfsTer26)
c.3316_3317del (p.Gln1106GlyfsTer26)
c.2497_2498del (p.Gln833GlyfsTer26)
n.4048_4049del
13g.51937550G>ACA388021823ATP7Bc.*1479C>T (n.*1479C>T)
c.*2573C>T (n.*2573C>T)
c.3208C>T (p.Gln1070Ter)
c.3829C>T (p.Gln1277Ter)
c.3496C>T (p.Gln1166Ter)
c.3577C>T (p.Gln1193Ter)
n.1070C>T
c.3595C>T (p.Gln1199Ter)
n.3968C>T
n.695C>T
c.2764C>T (p.Gln922Ter)
c.2539C>T (p.Gln847Ter)
c.3634C>T (p.Gln1212Ter)
c.1607C>T
c.*930C>T (n.*930C>T)
n.4573C>T
n.3174C>T
c.3685C>T (p.Gln1229Ter)
c.3733C>T (p.Gln1245Ter)
c.3793C>T (p.Gln1265Ter)
c.3343C>T (p.Gln1115Ter)
c.1645C>T (p.Gln549Ter)
c.1462C>T (p.Gln488Ter)
c.3694C>T (p.Gln1232Ter)
c.3646C>T (p.Gln1216Ter)
c.3415C>T (p.Gln1139Ter)
c.3316C>T (p.Gln1106Ter)
c.2497C>T (p.Gln833Ter)
n.4048C>T
13g.51937550G>CCA388021825ATP7Bc.*1479C>G (n.*1479C>G)
c.*2573C>G (n.*2573C>G)
c.3208C>G (p.Gln1070Glu)
c.3829C>G (p.Gln1277Glu)
c.3496C>G (p.Gln1166Glu)
c.3577C>G (p.Gln1193Glu)
n.1070C>G
c.3595C>G (p.Gln1199Glu)
n.3968C>G
n.695C>G
c.2764C>G (p.Gln922Glu)
c.2539C>G (p.Gln847Glu)
c.3634C>G (p.Gln1212Glu)
c.1607C>G
c.*930C>G (n.*930C>G)
n.4573C>G
n.3174C>G
c.3685C>G (p.Gln1229Glu)
c.3733C>G (p.Gln1245Glu)
c.3793C>G (p.Gln1265Glu)
c.3343C>G (p.Gln1115Glu)
c.1645C>G (p.Gln549Glu)
c.1462C>G (p.Gln488Glu)
c.3694C>G (p.Gln1232Glu)
c.3646C>G (p.Gln1216Glu)
c.3415C>G (p.Gln1139Glu)
c.3316C>G (p.Gln1106Glu)
c.2497C>G (p.Gln833Glu)
n.4048C>G
13g.51937550G>TCA388021827ATP7Bc.*1479C>A (n.*1479C>A)
c.*2573C>A (n.*2573C>A)
c.3208C>A (p.Gln1070Lys)
c.3829C>A (p.Gln1277Lys)
c.3496C>A (p.Gln1166Lys)
c.3577C>A (p.Gln1193Lys)
n.1070C>A
c.3595C>A (p.Gln1199Lys)
n.3968C>A
n.695C>A
c.2764C>A (p.Gln922Lys)
c.2539C>A (p.Gln847Lys)
c.3634C>A (p.Gln1212Lys)
c.1607C>A
c.*930C>A (n.*930C>A)
n.4573C>A
n.3174C>A
c.3685C>A (p.Gln1229Lys)
c.3733C>A (p.Gln1245Lys)
c.3793C>A (p.Gln1265Lys)
c.3343C>A (p.Gln1115Lys)
c.1645C>A (p.Gln549Lys)
c.1462C>A (p.Gln488Lys)
c.3694C>A (p.Gln1232Lys)
c.3646C>A (p.Gln1216Lys)
c.3415C>A (p.Gln1139Lys)
c.3316C>A (p.Gln1106Lys)
c.2497C>A (p.Gln833Lys)
n.4048C>A
13g.51937551G>ACA484024320ATP7Bc.*1478C>T (n.*1478C>T)
c.*2572C>T (n.*2572C>T)
c.3207C>T (p.Ala1069=)
c.3828C>T (p.Ala1276=)
c.3495C>T (p.Ala1165=)
c.3576C>T (p.Ala1192=)
n.1069C>T
c.3594C>T (p.Ala1198=)
n.3967C>T
n.694C>T
c.2763C>T (p.Ala921=)
c.2538C>T (p.Ala846=)
c.3633C>T (p.Ala1211=)
c.1606C>T
c.*929C>T (n.*929C>T)
n.4572C>T
n.3173C>T
c.3684C>T (p.Ala1228=)
c.3732C>T (p.Ala1244=)
c.3792C>T (p.Ala1264=)
c.3342C>T (p.Ala1114=)
c.1644C>T (p.Ala548=)
c.1461C>T (p.Ala487=)
c.3693C>T (p.Ala1231=)
c.3645C>T (p.Ala1215=)
c.3414C>T (p.Ala1138=)
c.3315C>T (p.Ala1105=)
c.2496C>T (p.Ala832=)
n.4047C>T
 gnomAD v4
13g.51937551G>CCA484024319ATP7Bc.*1478C>G (n.*1478C>G)
c.*2572C>G (n.*2572C>G)
c.3207C>G (p.Ala1069=)
c.3828C>G (p.Ala1276=)
c.3495C>G (p.Ala1165=)
c.3576C>G (p.Ala1192=)
n.1069C>G
c.3594C>G (p.Ala1198=)
n.3967C>G
n.694C>G
c.2763C>G (p.Ala921=)
c.2538C>G (p.Ala846=)
c.3633C>G (p.Ala1211=)
c.1606C>G
c.*929C>G (n.*929C>G)
n.4572C>G
n.3173C>G
c.3684C>G (p.Ala1228=)
c.3732C>G (p.Ala1244=)
c.3792C>G (p.Ala1264=)
c.3342C>G (p.Ala1114=)
c.1644C>G (p.Ala548=)
c.1461C>G (p.Ala487=)
c.3693C>G (p.Ala1231=)
c.3645C>G (p.Ala1215=)
c.3414C>G (p.Ala1138=)
c.3315C>G (p.Ala1105=)
c.2496C>G (p.Ala832=)
n.4047C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51937551G=CA2091553951ATP7Bc.*1478C= (n.*1478C=)
c.*2572C= (n.*2572C=)
c.3207C= (p.Ala1069=)
c.3828C= (p.Ala1276=)
c.3495C= (p.Ala1165=)
c.3576C= (p.Ala1192=)
n.1069C=
c.3594C= (p.Ala1198=)
n.3967C=
n.694C=
c.2763C= (p.Ala921=)
c.2538C= (p.Ala846=)
c.3633C= (p.Ala1211=)
c.1606C=
c.*929C= (n.*929C=)
n.4572C=
n.3173C=
c.3684C= (p.Ala1228=)
c.3732C= (p.Ala1244=)
c.3792C= (p.Ala1264=)
c.3342C= (p.Ala1114=)
c.1644C= (p.Ala548=)
c.1461C= (p.Ala487=)
c.3693C= (p.Ala1231=)
c.3645C= (p.Ala1215=)
c.3414C= (p.Ala1138=)
c.3315C= (p.Ala1105=)
c.2496C= (p.Ala832=)
n.4047C=
13g.51937551G>TCA484024318ATP7Bc.*1478C>A (n.*1478C>A)
c.*2572C>A (n.*2572C>A)
c.3207C>A (p.Ala1069=)
c.3828C>A (p.Ala1276=)
c.3495C>A (p.Ala1165=)
c.3576C>A (p.Ala1192=)
n.1069C>A
c.3594C>A (p.Ala1198=)
n.3967C>A
n.694C>A
c.2763C>A (p.Ala921=)
c.2538C>A (p.Ala846=)
c.3633C>A (p.Ala1211=)
c.1606C>A
c.*929C>A (n.*929C>A)
n.4572C>A
n.3173C>A
c.3684C>A (p.Ala1228=)
c.3732C>A (p.Ala1244=)
c.3792C>A (p.Ala1264=)
c.3342C>A (p.Ala1114=)
c.1644C>A (p.Ala548=)
c.1461C>A (p.Ala487=)
c.3693C>A (p.Ala1231=)
c.3645C>A (p.Ala1215=)
c.3414C>A (p.Ala1138=)
c.3315C>A (p.Ala1105=)
c.2496C>A (p.Ala832=)
n.4047C>A
13g.51937551_51937552insCACA2535443040ATP7Bc.*1477_*1478insTG (n.*1477_*1478insTG)
c.*2571_*2572insTG (n.*2571_*2572insTG)
c.3206_3207insTG (p.Gln1070AlafsTer?)
c.3827_3828insTG (p.Gln1277AlafsTer?)
c.3494_3495insTG (p.Gln1166AlafsTer?)
c.3575_3576insTG (p.Gln1193AlafsTer?)
n.1068_1069insTG
c.3593_3594insTG (p.Gln1199AlafsTer?)
n.3966_3967insTG
n.693_694insTG
c.2762_2763insTG (p.Gln922AlafsTer?)
c.2537_2538insTG (p.Gln847AlafsTer?)
c.3632_3633insTG (p.Gln1212AlafsTer?)
c.1605_1606insTG
c.*928_*929insTG (n.*928_*929insTG)
n.4571_4572insTG
n.3172_3173insTG
c.3683_3684insTG (p.Gln1229AlafsTer?)
c.3731_3732insTG (p.Gln1245AlafsTer?)
c.3791_3792insTG (p.Gln1265AlafsTer?)
c.3341_3342insTG (p.Gln1115AlafsTer?)
c.1643_1644insTG (p.Gln549AlafsTer?)
c.1460_1461insTG (p.Gln488AlafsTer?)
c.3692_3693insTG (p.Gln1232AlafsTer?)
c.3644_3645insTG (p.Gln1216AlafsTer?)
c.3413_3414insTG (p.Gln1139AlafsTer?)
c.3314_3315insTG (p.Gln1106AlafsTer?)
c.2495_2496insTG (p.Gln833AlafsTer?)
n.4046_4047insTG
13g.51937552G>ACA388021830ATP7Bc.*1477C>T (n.*1477C>T)
c.*2571C>T (n.*2571C>T)
c.3206C>T (p.Ala1069Val)
c.3827C>T (p.Ala1276Val)
c.3494C>T (p.Ala1165Val)
c.3575C>T (p.Ala1192Val)
n.1068C>T
c.3593C>T (p.Ala1198Val)
n.3966C>T
n.693C>T
c.2762C>T (p.Ala921Val)
c.2537C>T (p.Ala846Val)
c.3632C>T (p.Ala1211Val)
c.1605C>T
c.*928C>T (n.*928C>T)
n.4571C>T
n.3172C>T
c.3683C>T (p.Ala1228Val)
c.3731C>T (p.Ala1244Val)
c.3791C>T (p.Ala1264Val)
c.3341C>T (p.Ala1114Val)
c.1643C>T (p.Ala548Val)
c.1460C>T (p.Ala487Val)
c.3692C>T (p.Ala1231Val)
c.3644C>T (p.Ala1215Val)
c.3413C>T (p.Ala1138Val)
c.3314C>T (p.Ala1105Val)
c.2495C>T (p.Ala832Val)
n.4046C>T
13g.51937552G>CCA388021843ATP7Bc.*1477C>G (n.*1477C>G)
c.*2571C>G (n.*2571C>G)
c.3206C>G (p.Ala1069Gly)
c.3827C>G (p.Ala1276Gly)
c.3494C>G (p.Ala1165Gly)
c.3575C>G (p.Ala1192Gly)
n.1068C>G
c.3593C>G (p.Ala1198Gly)
n.3966C>G
n.693C>G
c.2762C>G (p.Ala921Gly)
c.2537C>G (p.Ala846Gly)
c.3632C>G (p.Ala1211Gly)
c.1605C>G
c.*928C>G (n.*928C>G)
n.4571C>G
n.3172C>G
c.3683C>G (p.Ala1228Gly)
c.3731C>G (p.Ala1244Gly)
c.3791C>G (p.Ala1264Gly)
c.3341C>G (p.Ala1114Gly)
c.1643C>G (p.Ala548Gly)
c.1460C>G (p.Ala487Gly)
c.3692C>G (p.Ala1231Gly)
c.3644C>G (p.Ala1215Gly)
c.3413C>G (p.Ala1138Gly)
c.3314C>G (p.Ala1105Gly)
c.2495C>G (p.Ala832Gly)
n.4046C>G
13g.51937552G>TCA388021834ATP7Bc.*1477C>A (n.*1477C>A)
c.*2571C>A (n.*2571C>A)
c.3206C>A (p.Ala1069Asp)
c.3827C>A (p.Ala1276Asp)
c.3494C>A (p.Ala1165Asp)
c.3575C>A (p.Ala1192Asp)
n.1068C>A
c.3593C>A (p.Ala1198Asp)
n.3966C>A
n.693C>A
c.2762C>A (p.Ala921Asp)
c.2537C>A (p.Ala846Asp)
c.3632C>A (p.Ala1211Asp)
c.1605C>A
c.*928C>A (n.*928C>A)
n.4571C>A
n.3172C>A
c.3683C>A (p.Ala1228Asp)
c.3731C>A (p.Ala1244Asp)
c.3791C>A (p.Ala1264Asp)
c.3341C>A (p.Ala1114Asp)
c.1643C>A (p.Ala548Asp)
c.1460C>A (p.Ala487Asp)
c.3692C>A (p.Ala1231Asp)
c.3644C>A (p.Ala1215Asp)
c.3413C>A (p.Ala1138Asp)
c.3314C>A (p.Ala1105Asp)
c.2495C>A (p.Ala832Asp)
n.4046C>A
13g.51937553C>ACA388021849ATP7Bc.*1476G>T (n.*1476G>T)
c.*2570G>T (n.*2570G>T)
c.3205G>T (p.Ala1069Ser)
c.3826G>T (p.Ala1276Ser)
c.3493G>T (p.Ala1165Ser)
c.3574G>T (p.Ala1192Ser)
n.1067G>T
c.3592G>T (p.Ala1198Ser)
n.3965G>T
n.692G>T
c.2761G>T (p.Ala921Ser)
c.2536G>T (p.Ala846Ser)
c.3631G>T (p.Ala1211Ser)
c.1604G>T
c.*927G>T (n.*927G>T)
n.4570G>T
n.3171G>T
c.3682G>T (p.Ala1228Ser)
c.3730G>T (p.Ala1244Ser)
c.3790G>T (p.Ala1264Ser)
c.3340G>T (p.Ala1114Ser)
c.1642G>T (p.Ala548Ser)
c.1459G>T (p.Ala487Ser)
c.3691G>T (p.Ala1231Ser)
c.3643G>T (p.Ala1215Ser)
c.3412G>T (p.Ala1138Ser)
c.3313G>T (p.Ala1105Ser)
c.2494G>T (p.Ala832Ser)
n.4045G>T
13g.51937553C>GCA388021852ATP7Bc.*1476G>C (n.*1476G>C)
c.*2570G>C (n.*2570G>C)
c.3205G>C (p.Ala1069Pro)
c.3826G>C (p.Ala1276Pro)
c.3493G>C (p.Ala1165Pro)
c.3574G>C (p.Ala1192Pro)
n.1067G>C
c.3592G>C (p.Ala1198Pro)
n.3965G>C
n.692G>C
c.2761G>C (p.Ala921Pro)
c.2536G>C (p.Ala846Pro)
c.3631G>C (p.Ala1211Pro)
c.1604G>C
c.*927G>C (n.*927G>C)
n.4570G>C
n.3171G>C
c.3682G>C (p.Ala1228Pro)
c.3730G>C (p.Ala1244Pro)
c.3790G>C (p.Ala1264Pro)
c.3340G>C (p.Ala1114Pro)
c.1642G>C (p.Ala548Pro)
c.1459G>C (p.Ala487Pro)
c.3691G>C (p.Ala1231Pro)
c.3643G>C (p.Ala1215Pro)
c.3412G>C (p.Ala1138Pro)
c.3313G>C (p.Ala1105Pro)
c.2494G>C (p.Ala832Pro)
n.4045G>C
13g.51937553C>TCA388021853ATP7Bc.*1476G>A (n.*1476G>A)
c.*2570G>A (n.*2570G>A)
c.3205G>A (p.Ala1069Thr)
c.3826G>A (p.Ala1276Thr)
c.3493G>A (p.Ala1165Thr)
c.3574G>A (p.Ala1192Thr)
n.1067G>A
c.3592G>A (p.Ala1198Thr)
n.3965G>A
n.692G>A
c.2761G>A (p.Ala921Thr)
c.2536G>A (p.Ala846Thr)
c.3631G>A (p.Ala1211Thr)
c.1604G>A
c.*927G>A (n.*927G>A)
n.4570G>A
n.3171G>A
c.3682G>A (p.Ala1228Thr)
c.3730G>A (p.Ala1244Thr)
c.3790G>A (p.Ala1264Thr)
c.3340G>A (p.Ala1114Thr)
c.1642G>A (p.Ala548Thr)
c.1459G>A (p.Ala487Thr)
c.3691G>A (p.Ala1231Thr)
c.3643G>A (p.Ala1215Thr)
c.3412G>A (p.Ala1138Thr)
c.3313G>A (p.Ala1105Thr)
c.2494G>A (p.Ala832Thr)
n.4045G>A
13g.51937553_51937554insTGCA2522069014ATP7Bc.*1475_*1476insCA (n.*1475_*1476insCA)
c.*2569_*2570insCA (n.*2569_*2570insCA)
c.3204_3205insCA (p.Ala1069GlnfsTer?)
c.3825_3826insCA (p.Ala1276GlnfsTer?)
c.3492_3493insCA (p.Ala1165GlnfsTer?)
c.3573_3574insCA (p.Ala1192GlnfsTer?)
n.1066_1067insCA
c.3591_3592insCA (p.Ala1198GlnfsTer?)
n.3964_3965insCA
n.691_692insCA
c.2760_2761insCA (p.Ala921GlnfsTer?)
c.2535_2536insCA (p.Ala846GlnfsTer?)
c.3630_3631insCA (p.Ala1211GlnfsTer?)
c.1603_1604insCA
c.*926_*927insCA (n.*926_*927insCA)
n.4569_4570insCA
n.3170_3171insCA
c.3681_3682insCA (p.Ala1228GlnfsTer?)
c.3729_3730insCA (p.Ala1244GlnfsTer?)
c.3789_3790insCA (p.Ala1264GlnfsTer?)
c.3339_3340insCA (p.Ala1114GlnfsTer?)
c.1641_1642insCA (p.Ala548GlnfsTer?)
c.1458_1459insCA (p.Ala487GlnfsTer?)
c.3690_3691insCA (p.Ala1231GlnfsTer?)
c.3642_3643insCA (p.Ala1215GlnfsTer?)
c.3411_3412insCA (p.Ala1138GlnfsTer?)
c.3312_3313insCA (p.Ala1105GlnfsTer?)
c.2493_2494insCA (p.Ala832GlnfsTer?)
n.4044_4045insCA
13g.51937554C>ACA388021854ATP7Bc.*1475G>T (n.*1475G>T)
c.*2569G>T (n.*2569G>T)
c.3204G>T (p.Leu1068Phe)
c.3825G>T (p.Leu1275Phe)
c.3492G>T (p.Leu1164Phe)
c.3573G>T (p.Leu1191Phe)
n.1066G>T
c.3591G>T (p.Leu1197Phe)
n.3964G>T
n.691G>T
c.2760G>T (p.Leu920Phe)
c.2535G>T (p.Leu845Phe)
c.3630G>T (p.Leu1210Phe)
c.1603G>T
c.*926G>T (n.*926G>T)
n.4569G>T
n.3170G>T
c.3681G>T (p.Leu1227Phe)
c.3729G>T (p.Leu1243Phe)
c.3789G>T (p.Leu1263Phe)
c.3339G>T (p.Leu1113Phe)
c.1641G>T (p.Leu547Phe)
c.1458G>T (p.Leu486Phe)
c.3690G>T (p.Leu1230Phe)
c.3642G>T (p.Leu1214Phe)
c.3411G>T (p.Leu1137Phe)
c.3312G>T (p.Leu1104Phe)
c.2493G>T (p.Leu831Phe)
n.4044G>T
13g.51937554C>GCA388021855ATP7Bc.*1475G>C (n.*1475G>C)
c.*2569G>C (n.*2569G>C)
c.3204G>C (p.Leu1068Phe)
c.3825G>C (p.Leu1275Phe)
c.3492G>C (p.Leu1164Phe)
c.3573G>C (p.Leu1191Phe)
n.1066G>C
c.3591G>C (p.Leu1197Phe)
n.3964G>C
n.691G>C
c.2760G>C (p.Leu920Phe)
c.2535G>C (p.Leu845Phe)
c.3630G>C (p.Leu1210Phe)
c.1603G>C
c.*926G>C (n.*926G>C)
n.4569G>C
n.3170G>C
c.3681G>C (p.Leu1227Phe)
c.3729G>C (p.Leu1243Phe)
c.3789G>C (p.Leu1263Phe)
c.3339G>C (p.Leu1113Phe)
c.1641G>C (p.Leu547Phe)
c.1458G>C (p.Leu486Phe)
c.3690G>C (p.Leu1230Phe)
c.3642G>C (p.Leu1214Phe)
c.3411G>C (p.Leu1137Phe)
c.3312G>C (p.Leu1104Phe)
c.2493G>C (p.Leu831Phe)
n.4044G>C
13g.51937554C>TCA484024321ATP7Bc.*1475G>A (n.*1475G>A)
c.*2569G>A (n.*2569G>A)
c.3204G>A (p.Leu1068=)
c.3825G>A (p.Leu1275=)
c.3492G>A (p.Leu1164=)
c.3573G>A (p.Leu1191=)
n.1066G>A
c.3591G>A (p.Leu1197=)
n.3964G>A
n.691G>A
c.2760G>A (p.Leu920=)
c.2535G>A (p.Leu845=)
c.3630G>A (p.Leu1210=)
c.1603G>A
c.*926G>A (n.*926G>A)
n.4569G>A
n.3170G>A
c.3681G>A (p.Leu1227=)
c.3729G>A (p.Leu1243=)
c.3789G>A (p.Leu1263=)
c.3339G>A (p.Leu1113=)
c.1641G>A (p.Leu547=)
c.1458G>A (p.Leu486=)
c.3690G>A (p.Leu1230=)
c.3642G>A (p.Leu1214=)
c.3411G>A (p.Leu1137=)
c.3312G>A (p.Leu1104=)
c.2493G>A (p.Leu831=)
n.4044G>A
 ClinVar gnomAD v4
13g.51937555A=CA2091553957ATP7Bc.*1474T= (n.*1474T=)
c.*2568T= (n.*2568T=)
c.3203T= (p.Leu1068=)
c.3824T= (p.Leu1275=)
c.3491T= (p.Leu1164=)
c.3572T= (p.Leu1191=)
n.1065T=
c.3590T= (p.Leu1197=)
n.3963T=
n.690T=
c.2759T= (p.Leu920=)
c.2534T= (p.Leu845=)
c.3629T= (p.Leu1210=)
c.1602T=
c.*925T= (n.*925T=)
n.4568T=
n.3169T=
c.3680T= (p.Leu1227=)
c.3728T= (p.Leu1243=)
c.3788T= (p.Leu1263=)
c.3338T= (p.Leu1113=)
c.1640T= (p.Leu547=)
c.1457T= (p.Leu486=)
c.3689T= (p.Leu1230=)
c.3641T= (p.Leu1214=)
c.3410T= (p.Leu1137=)
c.3311T= (p.Leu1104=)
c.2492T= (p.Leu831=)
n.4043T=
13g.51937555A>CCA388021856ATP7Bc.*1474T>G (n.*1474T>G)
c.*2568T>G (n.*2568T>G)
c.3203T>G (p.Leu1068Trp)
c.3824T>G (p.Leu1275Trp)
c.3491T>G (p.Leu1164Trp)
c.3572T>G (p.Leu1191Trp)
n.1065T>G
c.3590T>G (p.Leu1197Trp)
n.3963T>G
n.690T>G
c.2759T>G (p.Leu920Trp)
c.2534T>G (p.Leu845Trp)
c.3629T>G (p.Leu1210Trp)
c.1602T>G
c.*925T>G (n.*925T>G)
n.4568T>G
n.3169T>G
c.3680T>G (p.Leu1227Trp)
c.3728T>G (p.Leu1243Trp)
c.3788T>G (p.Leu1263Trp)
c.3338T>G (p.Leu1113Trp)
c.1640T>G (p.Leu547Trp)
c.1457T>G (p.Leu486Trp)
c.3689T>G (p.Leu1230Trp)
c.3641T>G (p.Leu1214Trp)
c.3410T>G (p.Leu1137Trp)
c.3311T>G (p.Leu1104Trp)
c.2492T>G (p.Leu831Trp)
n.4043T>G
13g.51937555A>GCA388021857ATP7Bc.*1474T>C (n.*1474T>C)
c.*2568T>C (n.*2568T>C)
c.3203T>C (p.Leu1068Ser)
c.3824T>C (p.Leu1275Ser)
c.3491T>C (p.Leu1164Ser)
c.3572T>C (p.Leu1191Ser)
n.1065T>C
c.3590T>C (p.Leu1197Ser)
n.3963T>C
n.690T>C
c.2759T>C (p.Leu920Ser)
c.2534T>C (p.Leu845Ser)
c.3629T>C (p.Leu1210Ser)
c.1602T>C
c.*925T>C (n.*925T>C)
n.4568T>C
n.3169T>C
c.3680T>C (p.Leu1227Ser)
c.3728T>C (p.Leu1243Ser)
c.3788T>C (p.Leu1263Ser)
c.3338T>C (p.Leu1113Ser)
c.1640T>C (p.Leu547Ser)
c.1457T>C (p.Leu486Ser)
c.3689T>C (p.Leu1230Ser)
c.3641T>C (p.Leu1214Ser)
c.3410T>C (p.Leu1137Ser)
c.3311T>C (p.Leu1104Ser)
c.2492T>C (p.Leu831Ser)
n.4043T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51937555A>TCA388021859ATP7Bc.*1474T>A (n.*1474T>A)
c.*2568T>A (n.*2568T>A)
c.3203T>A (p.Leu1068Ter)
c.3824T>A (p.Leu1275Ter)
c.3491T>A (p.Leu1164Ter)
c.3572T>A (p.Leu1191Ter)
n.1065T>A
c.3590T>A (p.Leu1197Ter)
n.3963T>A
n.690T>A
c.2759T>A (p.Leu920Ter)
c.2534T>A (p.Leu845Ter)
c.3629T>A (p.Leu1210Ter)
c.1602T>A
c.*925T>A (n.*925T>A)
n.4568T>A
n.3169T>A
c.3680T>A (p.Leu1227Ter)
c.3728T>A (p.Leu1243Ter)
c.3788T>A (p.Leu1263Ter)
c.3338T>A (p.Leu1113Ter)
c.1640T>A (p.Leu547Ter)
c.1457T>A (p.Leu486Ter)
c.3689T>A (p.Leu1230Ter)
c.3641T>A (p.Leu1214Ter)
c.3410T>A (p.Leu1137Ter)
c.3311T>A (p.Leu1104Ter)
c.2492T>A (p.Leu831Ter)
n.4043T>A
13g.51937556A>CCA388021864ATP7Bc.*1473T>G (n.*1473T>G)
c.*2567T>G (n.*2567T>G)
c.3202T>G (p.Leu1068Val)
c.3823T>G (p.Leu1275Val)
c.3490T>G (p.Leu1164Val)
c.3571T>G (p.Leu1191Val)
n.1064T>G
c.3589T>G (p.Leu1197Val)
n.3962T>G
n.689T>G
c.2758T>G (p.Leu920Val)
c.2533T>G (p.Leu845Val)
c.3628T>G (p.Leu1210Val)
c.1601T>G
c.*924T>G (n.*924T>G)
n.4567T>G
n.3168T>G
c.3679T>G (p.Leu1227Val)
c.3727T>G (p.Leu1243Val)
c.3787T>G (p.Leu1263Val)
c.3337T>G (p.Leu1113Val)
c.1639T>G (p.Leu547Val)
c.1456T>G (p.Leu486Val)
c.3688T>G (p.Leu1230Val)
c.3640T>G (p.Leu1214Val)
c.3409T>G (p.Leu1137Val)
c.3310T>G (p.Leu1104Val)
c.2491T>G (p.Leu831Val)
n.4042T>G
13g.51937556A>GCA484024322ATP7Bc.*1473T>C (n.*1473T>C)
c.*2567T>C (n.*2567T>C)
c.3202T>C (p.Leu1068=)
c.3823T>C (p.Leu1275=)
c.3490T>C (p.Leu1164=)
c.3571T>C (p.Leu1191=)
n.1064T>C
c.3589T>C (p.Leu1197=)
n.3962T>C
n.689T>C
c.2758T>C (p.Leu920=)
c.2533T>C (p.Leu845=)
c.3628T>C (p.Leu1210=)
c.1601T>C
c.*924T>C (n.*924T>C)
n.4567T>C
n.3168T>C
c.3679T>C (p.Leu1227=)
c.3727T>C (p.Leu1243=)
c.3787T>C (p.Leu1263=)
c.3337T>C (p.Leu1113=)
c.1639T>C (p.Leu547=)
c.1456T>C (p.Leu486=)
c.3688T>C (p.Leu1230=)
c.3640T>C (p.Leu1214=)
c.3409T>C (p.Leu1137=)
c.3310T>C (p.Leu1104=)
c.2491T>C (p.Leu831=)
n.4042T>C
13g.51937556A>TCA388021866ATP7Bc.*1473T>A (n.*1473T>A)
c.*2567T>A (n.*2567T>A)
c.3202T>A (p.Leu1068Met)
c.3823T>A (p.Leu1275Met)
c.3490T>A (p.Leu1164Met)
c.3571T>A (p.Leu1191Met)
n.1064T>A
c.3589T>A (p.Leu1197Met)
n.3962T>A
n.689T>A
c.2758T>A (p.Leu920Met)
c.2533T>A (p.Leu845Met)
c.3628T>A (p.Leu1210Met)
c.1601T>A
c.*924T>A (n.*924T>A)
n.4567T>A
n.3168T>A
c.3679T>A (p.Leu1227Met)
c.3727T>A (p.Leu1243Met)
c.3787T>A (p.Leu1263Met)
c.3337T>A (p.Leu1113Met)
c.1639T>A (p.Leu547Met)
c.1456T>A (p.Leu486Met)
c.3688T>A (p.Leu1230Met)
c.3640T>A (p.Leu1214Met)
c.3409T>A (p.Leu1137Met)
c.3310T>A (p.Leu1104Met)
c.2491T>A (p.Leu831Met)
n.4042T>A
13g.51937557G>ACA484024323ATP7Bc.*1472C>T (n.*1472C>T)
c.*2566C>T (n.*2566C>T)
c.3201C>T (p.Ala1067=)
c.3822C>T (p.Ala1274=)
c.3489C>T (p.Ala1163=)
c.3570C>T (p.Ala1190=)
n.1063C>T
c.3588C>T (p.Ala1196=)
n.3961C>T
n.688C>T
c.2757C>T (p.Ala919=)
c.2532C>T (p.Ala844=)
c.3627C>T (p.Ala1209=)
c.1600C>T
c.*923C>T (n.*923C>T)
n.4566C>T
n.3167C>T
c.3678C>T (p.Ala1226=)
c.3726C>T (p.Ala1242=)
c.3786C>T (p.Ala1262=)
c.3336C>T (p.Ala1112=)
c.1638C>T (p.Ala546=)
c.1455C>T (p.Ala485=)
c.3687C>T (p.Ala1229=)
c.3639C>T (p.Ala1213=)
c.3408C>T (p.Ala1136=)
c.3309C>T (p.Ala1103=)
c.2490C>T (p.Ala830=)
n.4041C>T
 ClinVar
13g.51937557G>CCA484024325ATP7Bc.*1472C>G (n.*1472C>G)
c.*2566C>G (n.*2566C>G)
c.3201C>G (p.Ala1067=)
c.3822C>G (p.Ala1274=)
c.3489C>G (p.Ala1163=)
c.3570C>G (p.Ala1190=)
n.1063C>G
c.3588C>G (p.Ala1196=)
n.3961C>G
n.688C>G
c.2757C>G (p.Ala919=)
c.2532C>G (p.Ala844=)
c.3627C>G (p.Ala1209=)
c.1600C>G
c.*923C>G (n.*923C>G)
n.4566C>G
n.3167C>G
c.3678C>G (p.Ala1226=)
c.3726C>G (p.Ala1242=)
c.3786C>G (p.Ala1262=)
c.3336C>G (p.Ala1112=)
c.1638C>G (p.Ala546=)
c.1455C>G (p.Ala485=)
c.3687C>G (p.Ala1229=)
c.3639C>G (p.Ala1213=)
c.3408C>G (p.Ala1136=)
c.3309C>G (p.Ala1103=)
c.2490C>G (p.Ala830=)
n.4041C>G
13g.51937557G>TCA484024324ATP7Bc.*1472C>A (n.*1472C>A)
c.*2566C>A (n.*2566C>A)
c.3201C>A (p.Ala1067=)
c.3822C>A (p.Ala1274=)
c.3489C>A (p.Ala1163=)
c.3570C>A (p.Ala1190=)
n.1063C>A
c.3588C>A (p.Ala1196=)
n.3961C>A
n.688C>A
c.2757C>A (p.Ala919=)
c.2532C>A (p.Ala844=)
c.3627C>A (p.Ala1209=)
c.1600C>A
c.*923C>A (n.*923C>A)
n.4566C>A
n.3167C>A
c.3678C>A (p.Ala1226=)
c.3726C>A (p.Ala1242=)
c.3786C>A (p.Ala1262=)
c.3336C>A (p.Ala1112=)
c.1638C>A (p.Ala546=)
c.1455C>A (p.Ala485=)
c.3687C>A (p.Ala1229=)
c.3639C>A (p.Ala1213=)
c.3408C>A (p.Ala1136=)
c.3309C>A (p.Ala1103=)
c.2490C>A (p.Ala830=)
n.4041C>A
13g.51937557_51937558insTCA2543253963ATP7Bc.*1471_*1472insA (n.*1471_*1472insA)
c.*2565_*2566insA (n.*2565_*2566insA)
c.3200_3201insA (p.Ala1069GlyfsTer28)
c.3821_3822insA (p.Ala1276GlyfsTer28)
c.3488_3489insA (p.Ala1165GlyfsTer28)
c.3569_3570insA (p.Ala1192GlyfsTer28)
n.1062_1063insA
c.3587_3588insA (p.Ala1198GlyfsTer28)
n.3960_3961insA
n.687_688insA
c.2756_2757insA (p.Ala921GlyfsTer28)
c.2531_2532insA (p.Ala846GlyfsTer28)
c.3626_3627insA (p.Ala1211GlyfsTer28)
c.1599_1600insA
c.*922_*923insA (n.*922_*923insA)
n.4565_4566insA
n.3166_3167insA
c.3677_3678insA (p.Ala1228GlyfsTer28)
c.3725_3726insA (p.Ala1244GlyfsTer28)
c.3785_3786insA (p.Ala1264GlyfsTer28)
c.3335_3336insA (p.Ala1114GlyfsTer28)
c.1637_1638insA (p.Ala548GlyfsTer28)
c.1454_1455insA (p.Ala487GlyfsTer28)
c.3686_3687insA (p.Ala1231GlyfsTer28)
c.3638_3639insA (p.Ala1215GlyfsTer28)
c.3407_3408insA (p.Ala1138GlyfsTer28)
c.3308_3309insA (p.Ala1105GlyfsTer28)
c.2489_2490insA (p.Ala832GlyfsTer28)
n.4040_4041insA
13g.51937558G>ACA388021873ATP7Bc.*1471C>T (n.*1471C>T)
c.*2565C>T (n.*2565C>T)
c.3200C>T (p.Ala1067Val)
c.3821C>T (p.Ala1274Val)
c.3488C>T (p.Ala1163Val)
c.3569C>T (p.Ala1190Val)
n.1062C>T
c.3587C>T (p.Ala1196Val)
n.3960C>T
n.687C>T
c.2756C>T (p.Ala919Val)
c.2531C>T (p.Ala844Val)
c.3626C>T (p.Ala1209Val)
c.1599C>T
c.*922C>T (n.*922C>T)
n.4565C>T
n.3166C>T
c.3677C>T (p.Ala1226Val)
c.3725C>T (p.Ala1242Val)
c.3785C>T (p.Ala1262Val)
c.3335C>T (p.Ala1112Val)
c.1637C>T (p.Ala546Val)
c.1454C>T (p.Ala485Val)
c.3686C>T (p.Ala1229Val)
c.3638C>T (p.Ala1213Val)
c.3407C>T (p.Ala1136Val)
c.3308C>T (p.Ala1103Val)
c.2489C>T (p.Ala830Val)
n.4040C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51937558G>CCA388021875ATP7Bc.*1471C>G (n.*1471C>G)
c.*2565C>G (n.*2565C>G)
c.3200C>G (p.Ala1067Gly)
c.3821C>G (p.Ala1274Gly)
c.3488C>G (p.Ala1163Gly)
c.3569C>G (p.Ala1190Gly)
n.1062C>G
c.3587C>G (p.Ala1196Gly)
n.3960C>G
n.687C>G
c.2756C>G (p.Ala919Gly)
c.2531C>G (p.Ala844Gly)
c.3626C>G (p.Ala1209Gly)
c.1599C>G
c.*922C>G (n.*922C>G)
n.4565C>G
n.3166C>G
c.3677C>G (p.Ala1226Gly)
c.3725C>G (p.Ala1242Gly)
c.3785C>G (p.Ala1262Gly)
c.3335C>G (p.Ala1112Gly)
c.1637C>G (p.Ala546Gly)
c.1454C>G (p.Ala485Gly)
c.3686C>G (p.Ala1229Gly)
c.3638C>G (p.Ala1213Gly)
c.3407C>G (p.Ala1136Gly)
c.3308C>G (p.Ala1103Gly)
c.2489C>G (p.Ala830Gly)
n.4040C>G
13g.51937558G=CA2091553966ATP7Bc.*1471C= (n.*1471C=)
c.*2565C= (n.*2565C=)
c.3200C= (p.Ala1067=)
c.3821C= (p.Ala1274=)
c.3488C= (p.Ala1163=)
c.3569C= (p.Ala1190=)
n.1062C=
c.3587C= (p.Ala1196=)
n.3960C=
n.687C=
c.2756C= (p.Ala919=)
c.2531C= (p.Ala844=)
c.3626C= (p.Ala1209=)
c.1599C=
c.*922C= (n.*922C=)
n.4565C=
n.3166C=
c.3677C= (p.Ala1226=)
c.3725C= (p.Ala1242=)
c.3785C= (p.Ala1262=)
c.3335C= (p.Ala1112=)
c.1637C= (p.Ala546=)
c.1454C= (p.Ala485=)
c.3686C= (p.Ala1229=)
c.3638C= (p.Ala1213=)
c.3407C= (p.Ala1136=)
c.3308C= (p.Ala1103=)
c.2489C= (p.Ala830=)
n.4040C=
13g.51937558G>TCA388021878ATP7Bc.*1471C>A (n.*1471C>A)
c.*2565C>A (n.*2565C>A)
c.3200C>A (p.Ala1067Asp)
c.3821C>A (p.Ala1274Asp)
c.3488C>A (p.Ala1163Asp)
c.3569C>A (p.Ala1190Asp)
n.1062C>A
c.3587C>A (p.Ala1196Asp)
n.3960C>A
n.687C>A
c.2756C>A (p.Ala919Asp)
c.2531C>A (p.Ala844Asp)
c.3626C>A (p.Ala1209Asp)
c.1599C>A
c.*922C>A (n.*922C>A)
n.4565C>A
n.3166C>A
c.3677C>A (p.Ala1226Asp)
c.3725C>A (p.Ala1242Asp)
c.3785C>A (p.Ala1262Asp)
c.3335C>A (p.Ala1112Asp)
c.1637C>A (p.Ala546Asp)
c.1454C>A (p.Ala485Asp)
c.3686C>A (p.Ala1229Asp)
c.3638C>A (p.Ala1213Asp)
c.3407C>A (p.Ala1136Asp)
c.3308C>A (p.Ala1103Asp)
c.2489C>A (p.Ala830Asp)
n.4040C>A
13g.51937559C>ACA388021880ATP7Bc.*1470G>T (n.*1470G>T)
c.*2564G>T (n.*2564G>T)
c.3199G>T (p.Ala1067Ser)
c.3820G>T (p.Ala1274Ser)
c.3487G>T (p.Ala1163Ser)
c.3568G>T (p.Ala1190Ser)
n.1061G>T
c.3586G>T (p.Ala1196Ser)
n.3959G>T
n.686G>T
c.2755G>T (p.Ala919Ser)
c.2530G>T (p.Ala844Ser)
c.3625G>T (p.Ala1209Ser)
c.1598G>T
c.*921G>T (n.*921G>T)
n.4564G>T
n.3165G>T
c.3676G>T (p.Ala1226Ser)
c.3724G>T (p.Ala1242Ser)
c.3784G>T (p.Ala1262Ser)
c.3334G>T (p.Ala1112Ser)
c.1636G>T (p.Ala546Ser)
c.1453G>T (p.Ala485Ser)
c.3685G>T (p.Ala1229Ser)
c.3637G>T (p.Ala1213Ser)
c.3406G>T (p.Ala1136Ser)
c.3307G>T (p.Ala1103Ser)
c.2488G>T (p.Ala830Ser)
n.4039G>T
13g.51937559C>GCA388021884ATP7Bc.*1470G>C (n.*1470G>C)
c.*2564G>C (n.*2564G>C)
c.3199G>C (p.Ala1067Pro)
c.3820G>C (p.Ala1274Pro)
c.3487G>C (p.Ala1163Pro)
c.3568G>C (p.Ala1190Pro)
n.1061G>C
c.3586G>C (p.Ala1196Pro)
n.3959G>C
n.686G>C
c.2755G>C (p.Ala919Pro)
c.2530G>C (p.Ala844Pro)
c.3625G>C (p.Ala1209Pro)
c.1598G>C
c.*921G>C (n.*921G>C)
n.4564G>C
n.3165G>C
c.3676G>C (p.Ala1226Pro)
c.3724G>C (p.Ala1242Pro)
c.3784G>C (p.Ala1262Pro)
c.3334G>C (p.Ala1112Pro)
c.1636G>C (p.Ala546Pro)
c.1453G>C (p.Ala485Pro)
c.3685G>C (p.Ala1229Pro)
c.3637G>C (p.Ala1213Pro)
c.3406G>C (p.Ala1136Pro)
c.3307G>C (p.Ala1103Pro)
c.2488G>C (p.Ala830Pro)
n.4039G>C
13g.51937559C>TCA388021882ATP7Bc.*1470G>A (n.*1470G>A)
c.*2564G>A (n.*2564G>A)
c.3199G>A (p.Ala1067Thr)
c.3820G>A (p.Ala1274Thr)
c.3487G>A (p.Ala1163Thr)
c.3568G>A (p.Ala1190Thr)
n.1061G>A
c.3586G>A (p.Ala1196Thr)
n.3959G>A
n.686G>A
c.2755G>A (p.Ala919Thr)
c.2530G>A (p.Ala844Thr)
c.3625G>A (p.Ala1209Thr)
c.1598G>A
c.*921G>A (n.*921G>A)
n.4564G>A
n.3165G>A
c.3676G>A (p.Ala1226Thr)
c.3724G>A (p.Ala1242Thr)
c.3784G>A (p.Ala1262Thr)
c.3334G>A (p.Ala1112Thr)
c.1636G>A (p.Ala546Thr)
c.1453G>A (p.Ala485Thr)
c.3685G>A (p.Ala1229Thr)
c.3637G>A (p.Ala1213Thr)
c.3406G>A (p.Ala1136Thr)
c.3307G>A (p.Ala1103Thr)
c.2488G>A (p.Ala830Thr)
n.4039G>A
 ClinVar dbSNP gnomAD v4
13g.51937560C>ACA484024326ATP7Bc.*1469G>T (n.*1469G>T)
c.*2563G>T (n.*2563G>T)
c.3198G>T (p.Pro1066=)
c.3819G>T (p.Pro1273=)
c.3486G>T (p.Pro1162=)
c.3567G>T (p.Pro1189=)
n.1060G>T
c.3585G>T (p.Pro1195=)
n.3958G>T
n.685G>T
c.2754G>T (p.Pro918=)
c.2529G>T (p.Pro843=)
c.3624G>T (p.Pro1208=)
c.1597G>T
c.*920G>T (n.*920G>T)
n.4563G>T
n.3164G>T
c.3675G>T (p.Pro1225=)
c.3723G>T (p.Pro1241=)
c.3783G>T (p.Pro1261=)
c.3333G>T (p.Pro1111=)
c.1635G>T (p.Pro545=)
c.1452G>T (p.Pro484=)
c.3684G>T (p.Pro1228=)
c.3636G>T (p.Pro1212=)
c.3405G>T (p.Pro1135=)
c.3306G>T (p.Pro1102=)
c.2487G>T (p.Pro829=)
n.4038G>T
13g.51937560C=CA2091553972ATP7Bc.*1469G= (n.*1469G=)
c.*2563G= (n.*2563G=)
c.3198G= (p.Pro1066=)
c.3819G= (p.Pro1273=)
c.3486G= (p.Pro1162=)
c.3567G= (p.Pro1189=)
n.1060G=
c.3585G= (p.Pro1195=)
n.3958G=
n.685G=
c.2754G= (p.Pro918=)
c.2529G= (p.Pro843=)
c.3624G= (p.Pro1208=)
c.1597G=
c.*920G= (n.*920G=)
n.4563G=
n.3164G=
c.3675G= (p.Pro1225=)
c.3723G= (p.Pro1241=)
c.3783G= (p.Pro1261=)
c.3333G= (p.Pro1111=)
c.1635G= (p.Pro545=)
c.1452G= (p.Pro484=)
c.3684G= (p.Pro1228=)
c.3636G= (p.Pro1212=)
c.3405G= (p.Pro1135=)
c.3306G= (p.Pro1102=)
c.2487G= (p.Pro829=)
n.4038G=
13g.51937560C>GCA484024327ATP7Bc.*1469G>C (n.*1469G>C)
c.*2563G>C (n.*2563G>C)
c.3198G>C (p.Pro1066=)
c.3819G>C (p.Pro1273=)
c.3486G>C (p.Pro1162=)
c.3567G>C (p.Pro1189=)
n.1060G>C
c.3585G>C (p.Pro1195=)
n.3958G>C
n.685G>C
c.2754G>C (p.Pro918=)
c.2529G>C (p.Pro843=)
c.3624G>C (p.Pro1208=)
c.1597G>C
c.*920G>C (n.*920G>C)
n.4563G>C
n.3164G>C
c.3675G>C (p.Pro1225=)
c.3723G>C (p.Pro1241=)
c.3783G>C (p.Pro1261=)
c.3333G>C (p.Pro1111=)
c.1635G>C (p.Pro545=)
c.1452G>C (p.Pro484=)
c.3684G>C (p.Pro1228=)
c.3636G>C (p.Pro1212=)
c.3405G>C (p.Pro1135=)
c.3306G>C (p.Pro1102=)
c.2487G>C (p.Pro829=)
n.4038G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51937560C>TCA6988564ATP7Bc.*1469G>A (n.*1469G>A)
c.*2563G>A (n.*2563G>A)
c.3198G>A (p.Pro1066=)
c.3819G>A (p.Pro1273=)
c.3486G>A (p.Pro1162=)
c.3567G>A (p.Pro1189=)
n.1060G>A
c.3585G>A (p.Pro1195=)
n.3958G>A
n.685G>A
c.2754G>A (p.Pro918=)
c.2529G>A (p.Pro843=)
c.3624G>A (p.Pro1208=)
c.1597G>A
c.*920G>A (n.*920G>A)
n.4563G>A
n.3164G>A
c.3675G>A (p.Pro1225=)
c.3723G>A (p.Pro1241=)
c.3783G>A (p.Pro1261=)
c.3333G>A (p.Pro1111=)
c.1635G>A (p.Pro545=)
c.1452G>A (p.Pro484=)
c.3684G>A (p.Pro1228=)
c.3636G>A (p.Pro1212=)
c.3405G>A (p.Pro1135=)
c.3306G>A (p.Pro1102=)
c.2487G>A (p.Pro829=)
n.4038G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937561G>ACA274408ATP7Bc.*1468C>T (n.*1468C>T)
c.*2562C>T (n.*2562C>T)
c.3197C>T (p.Pro1066Leu)
c.3818C>T (p.Pro1273Leu)
c.3485C>T (p.Pro1162Leu)
c.3566C>T (p.Pro1189Leu)
n.1059C>T
c.3584C>T (p.Pro1195Leu)
n.3957C>T
n.684C>T
c.2753C>T (p.Pro918Leu)
c.2528C>T (p.Pro843Leu)
c.3623C>T (p.Pro1208Leu)
c.1596C>T
c.*919C>T (n.*919C>T)
n.4562C>T
n.3163C>T
c.3674C>T (p.Pro1225Leu)
c.3722C>T (p.Pro1241Leu)
c.3782C>T (p.Pro1261Leu)
c.3332C>T (p.Pro1111Leu)
c.1634C>T (p.Pro545Leu)
c.1451C>T (p.Pro484Leu)
c.3683C>T (p.Pro1228Leu)
c.3635C>T (p.Pro1212Leu)
c.3404C>T (p.Pro1135Leu)
c.3305C>T (p.Pro1102Leu)
c.2486C>T (p.Pro829Leu)
n.4037C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937561G>CCA388021892ATP7Bc.*1468C>G (n.*1468C>G)
c.*2562C>G (n.*2562C>G)
c.3197C>G (p.Pro1066Arg)
c.3818C>G (p.Pro1273Arg)
c.3485C>G (p.Pro1162Arg)
c.3566C>G (p.Pro1189Arg)
n.1059C>G
c.3584C>G (p.Pro1195Arg)
n.3957C>G
n.684C>G
c.2753C>G (p.Pro918Arg)
c.2528C>G (p.Pro843Arg)
c.3623C>G (p.Pro1208Arg)
c.1596C>G
c.*919C>G (n.*919C>G)
n.4562C>G
n.3163C>G
c.3674C>G (p.Pro1225Arg)
c.3722C>G (p.Pro1241Arg)
c.3782C>G (p.Pro1261Arg)
c.3332C>G (p.Pro1111Arg)
c.1634C>G (p.Pro545Arg)
c.1451C>G (p.Pro484Arg)
c.3683C>G (p.Pro1228Arg)
c.3635C>G (p.Pro1212Arg)
c.3404C>G (p.Pro1135Arg)
c.3305C>G (p.Pro1102Arg)
c.2486C>G (p.Pro829Arg)
n.4037C>G
13g.51937561G=CA2091553976ATP7Bc.*1468C= (n.*1468C=)
c.*2562C= (n.*2562C=)
c.3197C= (p.Pro1066=)
c.3818C= (p.Pro1273=)
c.3485C= (p.Pro1162=)
c.3566C= (p.Pro1189=)
n.1059C=
c.3584C= (p.Pro1195=)
n.3957C=
n.684C=
c.2753C= (p.Pro918=)
c.2528C= (p.Pro843=)
c.3623C= (p.Pro1208=)
c.1596C=
c.*919C= (n.*919C=)
n.4562C=
n.3163C=
c.3674C= (p.Pro1225=)
c.3722C= (p.Pro1241=)
c.3782C= (p.Pro1261=)
c.3332C= (p.Pro1111=)
c.1634C= (p.Pro545=)
c.1451C= (p.Pro484=)
c.3683C= (p.Pro1228=)
c.3635C= (p.Pro1212=)
c.3404C= (p.Pro1135=)
c.3305C= (p.Pro1102=)
c.2486C= (p.Pro829=)
n.4037C=
13g.51937561G>TCA388021893ATP7Bc.*1468C>A (n.*1468C>A)
c.*2562C>A (n.*2562C>A)
c.3197C>A (p.Pro1066Gln)
c.3818C>A (p.Pro1273Gln)
c.3485C>A (p.Pro1162Gln)
c.3566C>A (p.Pro1189Gln)
n.1059C>A
c.3584C>A (p.Pro1195Gln)
n.3957C>A
n.684C>A
c.2753C>A (p.Pro918Gln)
c.2528C>A (p.Pro843Gln)
c.3623C>A (p.Pro1208Gln)
c.1596C>A
c.*919C>A (n.*919C>A)
n.4562C>A
n.3163C>A
c.3674C>A (p.Pro1225Gln)
c.3722C>A (p.Pro1241Gln)
c.3782C>A (p.Pro1261Gln)
c.3332C>A (p.Pro1111Gln)
c.1634C>A (p.Pro545Gln)
c.1451C>A (p.Pro484Gln)
c.3683C>A (p.Pro1228Gln)
c.3635C>A (p.Pro1212Gln)
c.3404C>A (p.Pro1135Gln)
c.3305C>A (p.Pro1102Gln)
c.2486C>A (p.Pro829Gln)
n.4037C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51937562G>ACA388021894ATP7Bc.*1467C>T (n.*1467C>T)
c.*2561C>T (n.*2561C>T)
c.3196C>T (p.Pro1066Ser)
c.3817C>T (p.Pro1273Ser)
c.3484C>T (p.Pro1162Ser)
c.3565C>T (p.Pro1189Ser)
n.1058C>T
c.3583C>T (p.Pro1195Ser)
n.3956C>T
n.683C>T
c.2752C>T (p.Pro918Ser)
c.2527C>T (p.Pro843Ser)
c.3622C>T (p.Pro1208Ser)
c.1595C>T
c.*918C>T (n.*918C>T)
n.4561C>T
n.3162C>T
c.3673C>T (p.Pro1225Ser)
c.3721C>T (p.Pro1241Ser)
c.3781C>T (p.Pro1261Ser)
c.3331C>T (p.Pro1111Ser)
c.1633C>T (p.Pro545Ser)
c.1450C>T (p.Pro484Ser)
c.3682C>T (p.Pro1228Ser)
c.3634C>T (p.Pro1212Ser)
c.3403C>T (p.Pro1135Ser)
c.3304C>T (p.Pro1102Ser)
c.2485C>T (p.Pro829Ser)
n.4036C>T
 dbSNP gnomAD v3 gnomAD v4
13g.51937562G>CCA388021902ATP7Bc.*1467C>G (n.*1467C>G)
c.*2561C>G (n.*2561C>G)
c.3196C>G (p.Pro1066Ala)
c.3817C>G (p.Pro1273Ala)
c.3484C>G (p.Pro1162Ala)
c.3565C>G (p.Pro1189Ala)
n.1058C>G
c.3583C>G (p.Pro1195Ala)
n.3956C>G
n.683C>G
c.2752C>G (p.Pro918Ala)
c.2527C>G (p.Pro843Ala)
c.3622C>G (p.Pro1208Ala)
c.1595C>G
c.*918C>G (n.*918C>G)
n.4561C>G
n.3162C>G
c.3673C>G (p.Pro1225Ala)
c.3721C>G (p.Pro1241Ala)
c.3781C>G (p.Pro1261Ala)
c.3331C>G (p.Pro1111Ala)
c.1633C>G (p.Pro545Ala)
c.1450C>G (p.Pro484Ala)
c.3682C>G (p.Pro1228Ala)
c.3634C>G (p.Pro1212Ala)
c.3403C>G (p.Pro1135Ala)
c.3304C>G (p.Pro1102Ala)
c.2485C>G (p.Pro829Ala)
n.4036C>G
13g.51937562G=CA2091553983ATP7Bc.*1467C= (n.*1467C=)
c.*2561C= (n.*2561C=)
c.3196C= (p.Pro1066=)
c.3817C= (p.Pro1273=)
c.3484C= (p.Pro1162=)
c.3565C= (p.Pro1189=)
n.1058C=
c.3583C= (p.Pro1195=)
n.3956C=
n.683C=
c.2752C= (p.Pro918=)
c.2527C= (p.Pro843=)
c.3622C= (p.Pro1208=)
c.1595C=
c.*918C= (n.*918C=)
n.4561C=
n.3162C=
c.3673C= (p.Pro1225=)
c.3721C= (p.Pro1241=)
c.3781C= (p.Pro1261=)
c.3331C= (p.Pro1111=)
c.1633C= (p.Pro545=)
c.1450C= (p.Pro484=)
c.3682C= (p.Pro1228=)
c.3634C= (p.Pro1212=)
c.3403C= (p.Pro1135=)
c.3304C= (p.Pro1102=)
c.2485C= (p.Pro829=)
n.4036C=
13g.51937562G>TCA388021906ATP7Bc.*1467C>A (n.*1467C>A)
c.*2561C>A (n.*2561C>A)
c.3196C>A (p.Pro1066Thr)
c.3817C>A (p.Pro1273Thr)
c.3484C>A (p.Pro1162Thr)
c.3565C>A (p.Pro1189Thr)
n.1058C>A
c.3583C>A (p.Pro1195Thr)
n.3956C>A
n.683C>A
c.2752C>A (p.Pro918Thr)
c.2527C>A (p.Pro843Thr)
c.3622C>A (p.Pro1208Thr)
c.1595C>A
c.*918C>A (n.*918C>A)
n.4561C>A
n.3162C>A
c.3673C>A (p.Pro1225Thr)
c.3721C>A (p.Pro1241Thr)
c.3781C>A (p.Pro1261Thr)
c.3331C>A (p.Pro1111Thr)
c.1633C>A (p.Pro545Thr)
c.1450C>A (p.Pro484Thr)
c.3682C>A (p.Pro1228Thr)
c.3634C>A (p.Pro1212Thr)
c.3403C>A (p.Pro1135Thr)
c.3304C>A (p.Pro1102Thr)
c.2485C>A (p.Pro829Thr)
n.4036C>A
 COSMIC
13g.51937563G>ACA484024328ATP7Bc.*1466C>T (n.*1466C>T)
c.*2560C>T (n.*2560C>T)
c.3195C>T (p.Ser1065=)
c.3816C>T (p.Ser1272=)
c.3483C>T (p.Ser1161=)
c.3564C>T (p.Ser1188=)
n.1057C>T
c.3582C>T (p.Ser1194=)
n.3955C>T
n.682C>T
c.2751C>T (p.Ser917=)
c.2526C>T (p.Ser842=)
c.3621C>T (p.Ser1207=)
c.1594C>T
c.*917C>T (n.*917C>T)
n.4560C>T
n.3161C>T
c.3672C>T (p.Ser1224=)
c.3720C>T (p.Ser1240=)
c.3780C>T (p.Ser1260=)
c.3330C>T (p.Ser1110=)
c.1632C>T (p.Ser544=)
c.1449C>T (p.Ser483=)
c.3681C>T (p.Ser1227=)
c.3633C>T (p.Ser1211=)
c.3402C>T (p.Ser1134=)
c.3303C>T (p.Ser1101=)
c.2484C>T (p.Ser828=)
n.4035C>T
 ClinVar dbSNP gnomAD v4 COSMIC
13g.51937563G>CCA484024329ATP7Bc.*1466C>G (n.*1466C>G)
c.*2560C>G (n.*2560C>G)
c.3195C>G (p.Ser1065=)
c.3816C>G (p.Ser1272=)
c.3483C>G (p.Ser1161=)
c.3564C>G (p.Ser1188=)
n.1057C>G
c.3582C>G (p.Ser1194=)
n.3955C>G
n.682C>G
c.2751C>G (p.Ser917=)
c.2526C>G (p.Ser842=)
c.3621C>G (p.Ser1207=)
c.1594C>G
c.*917C>G (n.*917C>G)
n.4560C>G
n.3161C>G
c.3672C>G (p.Ser1224=)
c.3720C>G (p.Ser1240=)
c.3780C>G (p.Ser1260=)
c.3330C>G (p.Ser1110=)
c.1632C>G (p.Ser544=)
c.1449C>G (p.Ser483=)
c.3681C>G (p.Ser1227=)
c.3633C>G (p.Ser1211=)
c.3402C>G (p.Ser1134=)
c.3303C>G (p.Ser1101=)
c.2484C>G (p.Ser828=)
n.4035C>G
13g.51937563G>TCA484024330ATP7Bc.*1466C>A (n.*1466C>A)
c.*2560C>A (n.*2560C>A)
c.3195C>A (p.Ser1065=)
c.3816C>A (p.Ser1272=)
c.3483C>A (p.Ser1161=)
c.3564C>A (p.Ser1188=)
n.1057C>A
c.3582C>A (p.Ser1194=)
n.3955C>A
n.682C>A
c.2751C>A (p.Ser917=)
c.2526C>A (p.Ser842=)
c.3621C>A (p.Ser1207=)
c.1594C>A
c.*917C>A (n.*917C>A)
n.4560C>A
n.3161C>A
c.3672C>A (p.Ser1224=)
c.3720C>A (p.Ser1240=)
c.3780C>A (p.Ser1260=)
c.3330C>A (p.Ser1110=)
c.1632C>A (p.Ser544=)
c.1449C>A (p.Ser483=)
c.3681C>A (p.Ser1227=)
c.3633C>A (p.Ser1211=)
c.3402C>A (p.Ser1134=)
c.3303C>A (p.Ser1101=)
c.2484C>A (p.Ser828=)
n.4035C>A
13g.51937564G>ACA388021909ATP7Bc.*1465C>T (n.*1465C>T)
c.*2559C>T (n.*2559C>T)
c.3194C>T (p.Ser1065Phe)
c.3815C>T (p.Ser1272Phe)
c.3482C>T (p.Ser1161Phe)
c.3563C>T (p.Ser1188Phe)
n.1056C>T
c.3581C>T (p.Ser1194Phe)
n.3954C>T
n.681C>T
c.2750C>T (p.Ser917Phe)
c.2525C>T (p.Ser842Phe)
c.3620C>T (p.Ser1207Phe)
c.1593C>T
c.*916C>T (n.*916C>T)
n.4559C>T
n.3160C>T
c.3671C>T (p.Ser1224Phe)
c.3719C>T (p.Ser1240Phe)
c.3779C>T (p.Ser1260Phe)
c.3329C>T (p.Ser1110Phe)
c.1631C>T (p.Ser544Phe)
c.1448C>T (p.Ser483Phe)
c.3680C>T (p.Ser1227Phe)
c.3632C>T (p.Ser1211Phe)
c.3401C>T (p.Ser1134Phe)
c.3302C>T (p.Ser1101Phe)
c.2483C>T (p.Ser828Phe)
n.4034C>T
 COSMIC
13g.51937564G>CCA388021913ATP7Bc.*1465C>G (n.*1465C>G)
c.*2559C>G (n.*2559C>G)
c.3194C>G (p.Ser1065Cys)
c.3815C>G (p.Ser1272Cys)
c.3482C>G (p.Ser1161Cys)
c.3563C>G (p.Ser1188Cys)
n.1056C>G
c.3581C>G (p.Ser1194Cys)
n.3954C>G
n.681C>G
c.2750C>G (p.Ser917Cys)
c.2525C>G (p.Ser842Cys)
c.3620C>G (p.Ser1207Cys)
c.1593C>G
c.*916C>G (n.*916C>G)
n.4559C>G
n.3160C>G
c.3671C>G (p.Ser1224Cys)
c.3719C>G (p.Ser1240Cys)
c.3779C>G (p.Ser1260Cys)
c.3329C>G (p.Ser1110Cys)
c.1631C>G (p.Ser544Cys)
c.1448C>G (p.Ser483Cys)
c.3680C>G (p.Ser1227Cys)
c.3632C>G (p.Ser1211Cys)
c.3401C>G (p.Ser1134Cys)
c.3302C>G (p.Ser1101Cys)
c.2483C>G (p.Ser828Cys)
n.4034C>G
 dbSNP gnomAD v4
13g.51937564G=CA2091553988ATP7Bc.*1465C= (n.*1465C=)
c.*2559C= (n.*2559C=)
c.3194C= (p.Ser1065=)
c.3815C= (p.Ser1272=)
c.3482C= (p.Ser1161=)
c.3563C= (p.Ser1188=)
n.1056C=
c.3581C= (p.Ser1194=)
n.3954C=
n.681C=
c.2750C= (p.Ser917=)
c.2525C= (p.Ser842=)
c.3620C= (p.Ser1207=)
c.1593C=
c.*916C= (n.*916C=)
n.4559C=
n.3160C=
c.3671C= (p.Ser1224=)
c.3719C= (p.Ser1240=)
c.3779C= (p.Ser1260=)
c.3329C= (p.Ser1110=)
c.1631C= (p.Ser544=)
c.1448C= (p.Ser483=)
c.3680C= (p.Ser1227=)
c.3632C= (p.Ser1211=)
c.3401C= (p.Ser1134=)
c.3302C= (p.Ser1101=)
c.2483C= (p.Ser828=)
n.4034C=
13g.51937564G>TCA388021924ATP7Bc.*1465C>A (n.*1465C>A)
c.*2559C>A (n.*2559C>A)
c.3194C>A (p.Ser1065Tyr)
c.3815C>A (p.Ser1272Tyr)
c.3482C>A (p.Ser1161Tyr)
c.3563C>A (p.Ser1188Tyr)
n.1056C>A
c.3581C>A (p.Ser1194Tyr)
n.3954C>A
n.681C>A
c.2750C>A (p.Ser917Tyr)
c.2525C>A (p.Ser842Tyr)
c.3620C>A (p.Ser1207Tyr)
c.1593C>A
c.*916C>A (n.*916C>A)
n.4559C>A
n.3160C>A
c.3671C>A (p.Ser1224Tyr)
c.3719C>A (p.Ser1240Tyr)
c.3779C>A (p.Ser1260Tyr)
c.3329C>A (p.Ser1110Tyr)
c.1631C>A (p.Ser544Tyr)
c.1448C>A (p.Ser483Tyr)
c.3680C>A (p.Ser1227Tyr)
c.3632C>A (p.Ser1211Tyr)
c.3401C>A (p.Ser1134Tyr)
c.3302C>A (p.Ser1101Tyr)
c.2483C>A (p.Ser828Tyr)
n.4034C>A
 ClinVar
13g.51937565A>CCA388021930ATP7Bc.*1464T>G (n.*1464T>G)
c.*2558T>G (n.*2558T>G)
c.3193T>G (p.Ser1065Ala)
c.3814T>G (p.Ser1272Ala)
c.3481T>G (p.Ser1161Ala)
c.3562T>G (p.Ser1188Ala)
n.1055T>G
c.3580T>G (p.Ser1194Ala)
n.3953T>G
n.680T>G
c.2749T>G (p.Ser917Ala)
c.2524T>G (p.Ser842Ala)
c.3619T>G (p.Ser1207Ala)
c.1592T>G
c.*915T>G (n.*915T>G)
n.4558T>G
n.3159T>G
c.3670T>G (p.Ser1224Ala)
c.3718T>G (p.Ser1240Ala)
c.3778T>G (p.Ser1260Ala)
c.3328T>G (p.Ser1110Ala)
c.1630T>G (p.Ser544Ala)
c.1447T>G (p.Ser483Ala)
c.3679T>G (p.Ser1227Ala)
c.3631T>G (p.Ser1211Ala)
c.3400T>G (p.Ser1134Ala)
c.3301T>G (p.Ser1101Ala)
c.2482T>G (p.Ser828Ala)
n.4033T>G
13g.51937565A>GCA388021935ATP7Bc.*1464T>C (n.*1464T>C)
c.*2558T>C (n.*2558T>C)
c.3193T>C (p.Ser1065Pro)
c.3814T>C (p.Ser1272Pro)
c.3481T>C (p.Ser1161Pro)
c.3562T>C (p.Ser1188Pro)
n.1055T>C
c.3580T>C (p.Ser1194Pro)
n.3953T>C
n.680T>C
c.2749T>C (p.Ser917Pro)
c.2524T>C (p.Ser842Pro)
c.3619T>C (p.Ser1207Pro)
c.1592T>C
c.*915T>C (n.*915T>C)
n.4558T>C
n.3159T>C
c.3670T>C (p.Ser1224Pro)
c.3718T>C (p.Ser1240Pro)
c.3778T>C (p.Ser1260Pro)
c.3328T>C (p.Ser1110Pro)
c.1630T>C (p.Ser544Pro)
c.1447T>C (p.Ser483Pro)
c.3679T>C (p.Ser1227Pro)
c.3631T>C (p.Ser1211Pro)
c.3400T>C (p.Ser1134Pro)
c.3301T>C (p.Ser1101Pro)
c.2482T>C (p.Ser828Pro)
n.4033T>C
13g.51937565A>TCA388021928ATP7Bc.*1464T>A (n.*1464T>A)
c.*2558T>A (n.*2558T>A)
c.3193T>A (p.Ser1065Thr)
c.3814T>A (p.Ser1272Thr)
c.3481T>A (p.Ser1161Thr)
c.3562T>A (p.Ser1188Thr)
n.1055T>A
c.3580T>A (p.Ser1194Thr)
n.3953T>A
n.680T>A
c.2749T>A (p.Ser917Thr)
c.2524T>A (p.Ser842Thr)
c.3619T>A (p.Ser1207Thr)
c.1592T>A
c.*915T>A (n.*915T>A)
n.4558T>A
n.3159T>A
c.3670T>A (p.Ser1224Thr)
c.3718T>A (p.Ser1240Thr)
c.3778T>A (p.Ser1260Thr)
c.3328T>A (p.Ser1110Thr)
c.1630T>A (p.Ser544Thr)
c.1447T>A (p.Ser483Thr)
c.3679T>A (p.Ser1227Thr)
c.3631T>A (p.Ser1211Thr)
c.3400T>A (p.Ser1134Thr)
c.3301T>A (p.Ser1101Thr)
c.2482T>A (p.Ser828Thr)
n.4033T>A
 gnomAD v4
13g.51937566G>ACA484024331ATP7Bc.*1463C>T (n.*1463C>T)
c.*2557C>T (n.*2557C>T)
c.3192C>T (p.Asp1064=)
c.3813C>T (p.Asp1271=)
c.3480C>T (p.Asp1160=)
c.3561C>T (p.Asp1187=)
n.1054C>T
c.3579C>T (p.Asp1193=)
n.3952C>T
n.679C>T
c.2748C>T (p.Asp916=)
c.2523C>T (p.Asp841=)
c.3618C>T (p.Asp1206=)
c.1591C>T
c.*914C>T (n.*914C>T)
n.4557C>T
n.3158C>T
c.3669C>T (p.Asp1223=)
c.3717C>T (p.Asp1239=)
c.3777C>T (p.Asp1259=)
c.3327C>T (p.Asp1109=)
c.1629C>T (p.Asp543=)
c.1446C>T (p.Asp482=)
c.3678C>T (p.Asp1226=)
c.3630C>T (p.Asp1210=)
c.3399C>T (p.Asp1133=)
c.3300C>T (p.Asp1100=)
c.2481C>T (p.Asp827=)
n.4032C>T
 ClinVar
13g.51937566G>CCA388021936ATP7Bc.*1463C>G (n.*1463C>G)
c.*2557C>G (n.*2557C>G)
c.3192C>G (p.Asp1064Glu)
c.3813C>G (p.Asp1271Glu)
c.3480C>G (p.Asp1160Glu)
c.3561C>G (p.Asp1187Glu)
n.1054C>G
c.3579C>G (p.Asp1193Glu)
n.3952C>G
n.679C>G
c.2748C>G (p.Asp916Glu)
c.2523C>G (p.Asp841Glu)
c.3618C>G (p.Asp1206Glu)
c.1591C>G
c.*914C>G (n.*914C>G)
n.4557C>G
n.3158C>G
c.3669C>G (p.Asp1223Glu)
c.3717C>G (p.Asp1239Glu)
c.3777C>G (p.Asp1259Glu)
c.3327C>G (p.Asp1109Glu)
c.1629C>G (p.Asp543Glu)
c.1446C>G (p.Asp482Glu)
c.3678C>G (p.Asp1226Glu)
c.3630C>G (p.Asp1210Glu)
c.3399C>G (p.Asp1133Glu)
c.3300C>G (p.Asp1100Glu)
c.2481C>G (p.Asp827Glu)
n.4032C>G
13g.51937566G=CA2091553992ATP7Bc.*1463C= (n.*1463C=)
c.*2557C= (n.*2557C=)
c.3192C= (p.Asp1064=)
c.3813C= (p.Asp1271=)
c.3480C= (p.Asp1160=)
c.3561C= (p.Asp1187=)
n.1054C=
c.3579C= (p.Asp1193=)
n.3952C=
n.679C=
c.2748C= (p.Asp916=)
c.2523C= (p.Asp841=)
c.3618C= (p.Asp1206=)
c.1591C=
c.*914C= (n.*914C=)
n.4557C=
n.3158C=
c.3669C= (p.Asp1223=)
c.3717C= (p.Asp1239=)
c.3777C= (p.Asp1259=)
c.3327C= (p.Asp1109=)
c.1629C= (p.Asp543=)
c.1446C= (p.Asp482=)
c.3678C= (p.Asp1226=)
c.3630C= (p.Asp1210=)
c.3399C= (p.Asp1133=)
c.3300C= (p.Asp1100=)
c.2481C= (p.Asp827=)
n.4032C=
13g.51937566G>TCA388021939ATP7Bc.*1463C>A (n.*1463C>A)
c.*2557C>A (n.*2557C>A)
c.3192C>A (p.Asp1064Glu)
c.3813C>A (p.Asp1271Glu)
c.3480C>A (p.Asp1160Glu)
c.3561C>A (p.Asp1187Glu)
n.1054C>A
c.3579C>A (p.Asp1193Glu)
n.3952C>A
n.679C>A
c.2748C>A (p.Asp916Glu)
c.2523C>A (p.Asp841Glu)
c.3618C>A (p.Asp1206Glu)
c.1591C>A
c.*914C>A (n.*914C>A)
n.4557C>A
n.3158C>A
c.3669C>A (p.Asp1223Glu)
c.3717C>A (p.Asp1239Glu)
c.3777C>A (p.Asp1259Glu)
c.3327C>A (p.Asp1109Glu)
c.1629C>A (p.Asp543Glu)
c.1446C>A (p.Asp482Glu)
c.3678C>A (p.Asp1226Glu)
c.3630C>A (p.Asp1210Glu)
c.3399C>A (p.Asp1133Glu)
c.3300C>A (p.Asp1100Glu)
c.2481C>A (p.Asp827Glu)
n.4032C>A
13g.51937567T>ACA388021940ATP7Bc.*1462A>T (n.*1462A>T)
c.*2556A>T (n.*2556A>T)
c.3191A>T (p.Asp1064Val)
c.3812A>T (p.Asp1271Val)
c.3479A>T (p.Asp1160Val)
c.3560A>T (p.Asp1187Val)
n.1053A>T
c.3578A>T (p.Asp1193Val)
n.3951A>T
n.678A>T
c.2747A>T (p.Asp916Val)
c.2522A>T (p.Asp841Val)
c.3617A>T (p.Asp1206Val)
c.1590A>T
c.*913A>T (n.*913A>T)
n.4556A>T
n.3157A>T
c.3668A>T (p.Asp1223Val)
c.3716A>T (p.Asp1239Val)
c.3776A>T (p.Asp1259Val)
c.3326A>T (p.Asp1109Val)
c.1628A>T (p.Asp543Val)
c.1445A>T (p.Asp482Val)
c.3677A>T (p.Asp1226Val)
c.3629A>T (p.Asp1210Val)
c.3398A>T (p.Asp1133Val)
c.3299A>T (p.Asp1100Val)
c.2480A>T (p.Asp827Val)
n.4031A>T
 dbSNP
13g.51937567T>CCA388021943ATP7Bc.*1462A>G (n.*1462A>G)
c.*2556A>G (n.*2556A>G)
c.3191A>G (p.Asp1064Gly)
c.3812A>G (p.Asp1271Gly)
c.3479A>G (p.Asp1160Gly)
c.3560A>G (p.Asp1187Gly)
n.1053A>G
c.3578A>G (p.Asp1193Gly)
n.3951A>G
n.678A>G
c.2747A>G (p.Asp916Gly)
c.2522A>G (p.Asp841Gly)
c.3617A>G (p.Asp1206Gly)
c.1590A>G
c.*913A>G (n.*913A>G)
n.4556A>G
n.3157A>G
c.3668A>G (p.Asp1223Gly)
c.3716A>G (p.Asp1239Gly)
c.3776A>G (p.Asp1259Gly)
c.3326A>G (p.Asp1109Gly)
c.1628A>G (p.Asp543Gly)
c.1445A>G (p.Asp482Gly)
c.3677A>G (p.Asp1226Gly)
c.3629A>G (p.Asp1210Gly)
c.3398A>G (p.Asp1133Gly)
c.3299A>G (p.Asp1100Gly)
c.2480A>G (p.Asp827Gly)
n.4031A>G
 ClinVar
13g.51937567T>GCA388021944ATP7Bc.*1462A>C (n.*1462A>C)
c.*2556A>C (n.*2556A>C)
c.3191A>C (p.Asp1064Ala)
c.3812A>C (p.Asp1271Ala)
c.3479A>C (p.Asp1160Ala)
c.3560A>C (p.Asp1187Ala)
n.1053A>C
c.3578A>C (p.Asp1193Ala)
n.3951A>C
n.678A>C
c.2747A>C (p.Asp916Ala)
c.2522A>C (p.Asp841Ala)
c.3617A>C (p.Asp1206Ala)
c.1590A>C
c.*913A>C (n.*913A>C)
n.4556A>C
n.3157A>C
c.3668A>C (p.Asp1223Ala)
c.3716A>C (p.Asp1239Ala)
c.3776A>C (p.Asp1259Ala)
c.3326A>C (p.Asp1109Ala)
c.1628A>C (p.Asp543Ala)
c.1445A>C (p.Asp482Ala)
c.3677A>C (p.Asp1226Ala)
c.3629A>C (p.Asp1210Ala)
c.3398A>C (p.Asp1133Ala)
c.3299A>C (p.Asp1100Ala)
c.2480A>C (p.Asp827Ala)
n.4031A>C
13g.51937567T=CA2091553999ATP7Bc.*1462A= (n.*1462A=)
c.*2556A= (n.*2556A=)
c.3191A= (p.Asp1064=)
c.3812A= (p.Asp1271=)
c.3479A= (p.Asp1160=)
c.3560A= (p.Asp1187=)
n.1053A=
c.3578A= (p.Asp1193=)
n.3951A=
n.678A=
c.2747A= (p.Asp916=)
c.2522A= (p.Asp841=)
c.3617A= (p.Asp1206=)
c.1590A=
c.*913A= (n.*913A=)
n.4556A=
n.3157A=
c.3668A= (p.Asp1223=)
c.3716A= (p.Asp1239=)
c.3776A= (p.Asp1259=)
c.3326A= (p.Asp1109=)
c.1628A= (p.Asp543=)
c.1445A= (p.Asp482=)
c.3677A= (p.Asp1226=)
c.3629A= (p.Asp1210=)
c.3398A= (p.Asp1133=)
c.3299A= (p.Asp1100=)
c.2480A= (p.Asp827=)
n.4031A=
13g.51937567_51937571dupCA956027112ATP7Bc.*1458_*1462dup (n.*1458_*1462dup)
c.*2552_*2556dup (n.*2552_*2556dup)
c.3187_3191dup (p.Asp1064GlufsTer?)
c.3808_3812dup (p.Asp1271GlufsTer?)
c.3475_3479dup (p.Asp1160GlufsTer?)
c.3556_3560dup (p.Asp1187GlufsTer?)
n.1049_1053dup
c.3574_3578dup (p.Asp1193GlufsTer?)
n.3947_3951dup
n.674_678dup
c.2743_2747dup (p.Asp916GlufsTer?)
c.2518_2522dup (p.Asp841GlufsTer?)
c.3613_3617dup (p.Asp1206GlufsTer?)
c.1586_1590dup
c.*909_*913dup (n.*909_*913dup)
n.4552_4556dup
n.3153_3157dup
c.3664_3668dup (p.Asp1223GlufsTer?)
c.3712_3716dup (p.Asp1239GlufsTer?)
c.3772_3776dup (p.Asp1259GlufsTer?)
c.3322_3326dup (p.Asp1109GlufsTer?)
c.1624_1628dup (p.Asp543GlufsTer?)
c.1441_1445dup (p.Asp482GlufsTer?)
c.3673_3677dup (p.Asp1226GlufsTer?)
c.3625_3629dup (p.Asp1210GlufsTer?)
c.3394_3398dup (p.Asp1133GlufsTer?)
c.3295_3299dup (p.Asp1100GlufsTer?)
c.2476_2480dup (p.Asp827GlufsTer?)
n.4027_4031dup
 dbSNP gnomAD v3 gnomAD v4
13g.51937568C>ACA388021949ATP7Bc.*1461G>T (n.*1461G>T)
c.*2555G>T (n.*2555G>T)
c.3190G>T (p.Asp1064Tyr)
c.3811G>T (p.Asp1271Tyr)
c.3478G>T (p.Asp1160Tyr)
c.3559G>T (p.Asp1187Tyr)
n.1052G>T
c.3577G>T (p.Asp1193Tyr)
n.3950G>T
n.677G>T
c.2746G>T (p.Asp916Tyr)
c.2521G>T (p.Asp841Tyr)
c.3616G>T (p.Asp1206Tyr)
c.1589G>T
c.*912G>T (n.*912G>T)
n.4555G>T
n.3156G>T
c.3667G>T (p.Asp1223Tyr)
c.3715G>T (p.Asp1239Tyr)
c.3775G>T (p.Asp1259Tyr)
c.3325G>T (p.Asp1109Tyr)
c.1627G>T (p.Asp543Tyr)
c.1444G>T (p.Asp482Tyr)
c.3676G>T (p.Asp1226Tyr)
c.3628G>T (p.Asp1210Tyr)
c.3397G>T (p.Asp1133Tyr)
c.3298G>T (p.Asp1100Tyr)
c.2479G>T (p.Asp827Tyr)
n.4030G>T
13g.51937568C>GCA388021950ATP7Bc.*1461G>C (n.*1461G>C)
c.*2555G>C (n.*2555G>C)
c.3190G>C (p.Asp1064His)
c.3811G>C (p.Asp1271His)
c.3478G>C (p.Asp1160His)
c.3559G>C (p.Asp1187His)
n.1052G>C
c.3577G>C (p.Asp1193His)
n.3950G>C
n.677G>C
c.2746G>C (p.Asp916His)
c.2521G>C (p.Asp841His)
c.3616G>C (p.Asp1206His)
c.1589G>C
c.*912G>C (n.*912G>C)
n.4555G>C
n.3156G>C
c.3667G>C (p.Asp1223His)
c.3715G>C (p.Asp1239His)
c.3775G>C (p.Asp1259His)
c.3325G>C (p.Asp1109His)
c.1627G>C (p.Asp543His)
c.1444G>C (p.Asp482His)
c.3676G>C (p.Asp1226His)
c.3628G>C (p.Asp1210His)
c.3397G>C (p.Asp1133His)
c.3298G>C (p.Asp1100His)
c.2479G>C (p.Asp827His)
n.4030G>C
 gnomAD v4
13g.51937568C>TCA388021951ATP7Bc.*1461G>A (n.*1461G>A)
c.*2555G>A (n.*2555G>A)
c.3190G>A (p.Asp1064Asn)
c.3811G>A (p.Asp1271Asn)
c.3478G>A (p.Asp1160Asn)
c.3559G>A (p.Asp1187Asn)
n.1052G>A
c.3577G>A (p.Asp1193Asn)
n.3950G>A
n.677G>A
c.2746G>A (p.Asp916Asn)
c.2521G>A (p.Asp841Asn)
c.3616G>A (p.Asp1206Asn)
c.1589G>A
c.*912G>A (n.*912G>A)
n.4555G>A
n.3156G>A
c.3667G>A (p.Asp1223Asn)
c.3715G>A (p.Asp1239Asn)
c.3775G>A (p.Asp1259Asn)
c.3325G>A (p.Asp1109Asn)
c.1627G>A (p.Asp543Asn)
c.1444G>A (p.Asp482Asn)
c.3676G>A (p.Asp1226Asn)
c.3628G>A (p.Asp1210Asn)
c.3397G>A (p.Asp1133Asn)
c.3298G>A (p.Asp1100Asn)
c.2479G>A (p.Asp827Asn)
n.4030G>A
13g.51937569A>CCA388021953ATP7Bc.*1460T>G (n.*1460T>G)
c.*2554T>G (n.*2554T>G)
c.3189T>G (p.Asn1063Lys)
c.3810T>G (p.Asn1270Lys)
c.3477T>G (p.Asn1159Lys)
c.3558T>G (p.Asn1186Lys)
n.1051T>G
c.3576T>G (p.Asn1192Lys)
n.3949T>G
n.676T>G
c.2745T>G (p.Asn915Lys)
c.2520T>G (p.Asn840Lys)
c.3615T>G (p.Asn1205Lys)
c.1588T>G
c.*911T>G (n.*911T>G)
n.4554T>G
n.3155T>G
c.3666T>G (p.Asn1222Lys)
c.3714T>G (p.Asn1238Lys)
c.3774T>G (p.Asn1258Lys)
c.3324T>G (p.Asn1108Lys)
c.1626T>G (p.Asn542Lys)
c.1443T>G (p.Asn481Lys)
c.3675T>G (p.Asn1225Lys)
c.3627T>G (p.Asn1209Lys)
c.3396T>G (p.Asn1132Lys)
c.3297T>G (p.Asn1099Lys)
c.2478T>G (p.Asn826Lys)
n.4029T>G
13g.51937569A>GCA484024332ATP7Bc.*1460T>C (n.*1460T>C)
c.*2554T>C (n.*2554T>C)
c.3189T>C (p.Asn1063=)
c.3810T>C (p.Asn1270=)
c.3477T>C (p.Asn1159=)
c.3558T>C (p.Asn1186=)
n.1051T>C
c.3576T>C (p.Asn1192=)
n.3949T>C
n.676T>C
c.2745T>C (p.Asn915=)
c.2520T>C (p.Asn840=)
c.3615T>C (p.Asn1205=)
c.1588T>C
c.*911T>C (n.*911T>C)
n.4554T>C
n.3155T>C
c.3666T>C (p.Asn1222=)
c.3714T>C (p.Asn1238=)
c.3774T>C (p.Asn1258=)
c.3324T>C (p.Asn1108=)
c.1626T>C (p.Asn542=)
c.1443T>C (p.Asn481=)
c.3675T>C (p.Asn1225=)
c.3627T>C (p.Asn1209=)
c.3396T>C (p.Asn1132=)
c.3297T>C (p.Asn1099=)
c.2478T>C (p.Asn826=)
n.4029T>C
 ClinVar
13g.51937569A>TCA388021954ATP7Bc.*1460T>A (n.*1460T>A)
c.*2554T>A (n.*2554T>A)
c.3189T>A (p.Asn1063Lys)
c.3810T>A (p.Asn1270Lys)
c.3477T>A (p.Asn1159Lys)
c.3558T>A (p.Asn1186Lys)
n.1051T>A
c.3576T>A (p.Asn1192Lys)
n.3949T>A
n.676T>A
c.2745T>A (p.Asn915Lys)
c.2520T>A (p.Asn840Lys)
c.3615T>A (p.Asn1205Lys)
c.1588T>A
c.*911T>A (n.*911T>A)
n.4554T>A
n.3155T>A
c.3666T>A (p.Asn1222Lys)
c.3714T>A (p.Asn1238Lys)
c.3774T>A (p.Asn1258Lys)
c.3324T>A (p.Asn1108Lys)
c.1626T>A (p.Asn542Lys)
c.1443T>A (p.Asn481Lys)
c.3675T>A (p.Asn1225Lys)
c.3627T>A (p.Asn1209Lys)
c.3396T>A (p.Asn1132Lys)
c.3297T>A (p.Asn1099Lys)
c.2478T>A (p.Asn826Lys)
n.4029T>A
13g.51937569_51937570delCA912974792ATP7Bc.*1459_*1460del (n.*1459_*1460del)
c.*2553_*2554del (n.*2553_*2554del)
c.3188_3189del (p.Asn1063ArgfsTer?)
c.3809_3810del (p.Asn1270ArgfsTer?)
c.3476_3477del (p.Asn1159ArgfsTer?)
c.3557_3558del (p.Asn1186ArgfsTer?)
n.1050_1051del
c.3575_3576del (p.Asn1192ArgfsTer?)
n.3948_3949del
n.675_676del
c.2744_2745del (p.Asn915ArgfsTer?)
c.2519_2520del (p.Asn840ArgfsTer?)
c.3614_3615del (p.Asn1205ArgfsTer?)
c.1587_1588del
c.*910_*911del (n.*910_*911del)
n.4553_4554del
n.3154_3155del
c.3665_3666del (p.Asn1222ArgfsTer?)
c.3713_3714del (p.Asn1238ArgfsTer?)
c.3773_3774del (p.Asn1258ArgfsTer?)
c.3323_3324del (p.Asn1108ArgfsTer?)
c.1625_1626del (p.Asn542ArgfsTer?)
c.1442_1443del (p.Asn481ArgfsTer?)
c.3674_3675del (p.Asn1225ArgfsTer?)
c.3626_3627del (p.Asn1209ArgfsTer?)
c.3395_3396del (p.Asn1132ArgfsTer?)
c.3296_3297del (p.Asn1099ArgfsTer?)
c.2477_2478del (p.Asn826ArgfsTer?)
n.4028_4029del
13g.51937569_51937570delinsATCA2091554005ATP7Bc.*1459_*1460delinsAT (n.*1459_*1460delinsAT)
c.*2553_*2554delinsAT (n.*2553_*2554delinsAT)
c.3188_3189delinsAT (p.Asn1063=)
c.3809_3810delinsAT (p.Asn1270=)
c.3476_3477delinsAT (p.Asn1159=)
c.3557_3558delinsAT (p.Asn1186=)
n.1050_1051delinsAT
c.3575_3576delinsAT (p.Asn1192=)
n.3948_3949delinsAT
n.675_676delinsAT
c.2744_2745delinsAT (p.Asn915=)
c.2519_2520delinsAT (p.Asn840=)
c.3614_3615delinsAT (p.Asn1205=)
c.1587_1588delinsAT
c.*910_*911delinsAT (n.*910_*911delinsAT)
n.4553_4554delinsAT
n.3154_3155delinsAT
c.3665_3666delinsAT (p.Asn1222=)
c.3713_3714delinsAT (p.Asn1238=)
c.3773_3774delinsAT (p.Asn1258=)
c.3323_3324delinsAT (p.Asn1108=)
c.1625_1626delinsAT (p.Asn542=)
c.1442_1443delinsAT (p.Asn481=)
c.3674_3675delinsAT (p.Asn1225=)
c.3626_3627delinsAT (p.Asn1209=)
c.3395_3396delinsAT (p.Asn1132=)
c.3296_3297delinsAT (p.Asn1099=)
c.2477_2478delinsAT (p.Asn826=)
n.4028_4029delinsAT
13g.51937570T>ACA6988565ATP7Bc.*1459A>T (n.*1459A>T)
c.*2553A>T (n.*2553A>T)
c.3188A>T (p.Asn1063Ile)
c.3809A>T (p.Asn1270Ile)
c.3476A>T (p.Asn1159Ile)
c.3557A>T (p.Asn1186Ile)
n.1050A>T
c.3575A>T (p.Asn1192Ile)
n.3948A>T
n.675A>T
c.2744A>T (p.Asn915Ile)
c.2519A>T (p.Asn840Ile)
c.3614A>T (p.Asn1205Ile)
c.1587A>T
c.*910A>T (n.*910A>T)
n.4553A>T
n.3154A>T
c.3665A>T (p.Asn1222Ile)
c.3713A>T (p.Asn1238Ile)
c.3773A>T (p.Asn1258Ile)
c.3323A>T (p.Asn1108Ile)
c.1625A>T (p.Asn542Ile)
c.1442A>T (p.Asn481Ile)
c.3674A>T (p.Asn1225Ile)
c.3626A>T (p.Asn1209Ile)
c.3395A>T (p.Asn1132Ile)
c.3296A>T (p.Asn1099Ile)
c.2477A>T (p.Asn826Ile)
n.4028A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937570T>CCA252896ATP7Bc.*1459A>G (n.*1459A>G)
c.*2553A>G (n.*2553A>G)
c.3188A>G (p.Asn1063Ser)
c.3809A>G (p.Asn1270Ser)
c.3476A>G (p.Asn1159Ser)
c.3557A>G (p.Asn1186Ser)
n.1050A>G
c.3575A>G (p.Asn1192Ser)
n.3948A>G
n.675A>G
c.2744A>G (p.Asn915Ser)
c.2519A>G (p.Asn840Ser)
c.3614A>G (p.Asn1205Ser)
c.1587A>G
c.*910A>G (n.*910A>G)
n.4553A>G
n.3154A>G
c.3665A>G (p.Asn1222Ser)
c.3713A>G (p.Asn1238Ser)
c.3773A>G (p.Asn1258Ser)
c.3323A>G (p.Asn1108Ser)
c.1625A>G (p.Asn542Ser)
c.1442A>G (p.Asn481Ser)
c.3674A>G (p.Asn1225Ser)
c.3626A>G (p.Asn1209Ser)
c.3395A>G (p.Asn1132Ser)
c.3296A>G (p.Asn1099Ser)
c.2477A>G (p.Asn826Ser)
n.4028A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937570T>GCA388021960ATP7Bc.*1459A>C (n.*1459A>C)
c.*2553A>C (n.*2553A>C)
c.3188A>C (p.Asn1063Thr)
c.3809A>C (p.Asn1270Thr)
c.3476A>C (p.Asn1159Thr)
c.3557A>C (p.Asn1186Thr)
n.1050A>C
c.3575A>C (p.Asn1192Thr)
n.3948A>C
n.675A>C
c.2744A>C (p.Asn915Thr)
c.2519A>C (p.Asn840Thr)
c.3614A>C (p.Asn1205Thr)
c.1587A>C
c.*910A>C (n.*910A>C)
n.4553A>C
n.3154A>C
c.3665A>C (p.Asn1222Thr)
c.3713A>C (p.Asn1238Thr)
c.3773A>C (p.Asn1258Thr)
c.3323A>C (p.Asn1108Thr)
c.1625A>C (p.Asn542Thr)
c.1442A>C (p.Asn481Thr)
c.3674A>C (p.Asn1225Thr)
c.3626A>C (p.Asn1209Thr)
c.3395A>C (p.Asn1132Thr)
c.3296A>C (p.Asn1099Thr)
c.2477A>C (p.Asn826Thr)
n.4028A>C
13g.51937570T=CA2091554010ATP7Bc.*1459A= (n.*1459A=)
c.*2553A= (n.*2553A=)
c.3188A= (p.Asn1063=)
c.3809A= (p.Asn1270=)
c.3476A= (p.Asn1159=)
c.3557A= (p.Asn1186=)
n.1050A=
c.3575A= (p.Asn1192=)
n.3948A=
n.675A=
c.2744A= (p.Asn915=)
c.2519A= (p.Asn840=)
c.3614A= (p.Asn1205=)
c.1587A=
c.*910A= (n.*910A=)
n.4553A=
n.3154A=
c.3665A= (p.Asn1222=)
c.3713A= (p.Asn1238=)
c.3773A= (p.Asn1258=)
c.3323A= (p.Asn1108=)
c.1625A= (p.Asn542=)
c.1442A= (p.Asn481=)
c.3674A= (p.Asn1225=)
c.3626A= (p.Asn1209=)
c.3395A= (p.Asn1132=)
c.3296A= (p.Asn1099=)
c.2477A= (p.Asn826=)
n.4028A=
13g.51937571delCA658823696ATP7Bc.*1459del (n.*1459del)
c.*2553del (n.*2553del)
c.3188del (p.Asn1063MetfsTer?)
c.3809del (p.Asn1270MetfsTer?)
c.3476del (p.Asn1159MetfsTer?)
c.3557del (p.Asn1186MetfsTer?)
n.1050del
c.3575del (p.Asn1192MetfsTer?)
n.3948del
n.675del
c.2744del (p.Asn915MetfsTer?)
c.2519del (p.Asn840MetfsTer?)
c.3614del (p.Asn1205MetfsTer?)
c.1587del
c.*910del (n.*910del)
n.4553del
n.3154del
c.3665del (p.Asn1222MetfsTer?)
c.3713del (p.Asn1238MetfsTer?)
c.3773del (p.Asn1258MetfsTer?)
c.3323del (p.Asn1108MetfsTer?)
c.1625del (p.Asn542MetfsTer?)
c.1442del (p.Asn481MetfsTer?)
c.3674del (p.Asn1225MetfsTer?)
c.3626del (p.Asn1209MetfsTer?)
c.3395del (p.Asn1132MetfsTer?)
c.3296del (p.Asn1099MetfsTer?)
c.2477del (p.Asn826MetfsTer?)
n.4028del
 ClinVar dbSNP
13g.51937571T>ACA388021967ATP7Bc.*1458A>T (n.*1458A>T)
c.*2552A>T (n.*2552A>T)
c.3187A>T (p.Asn1063Tyr)
c.3808A>T (p.Asn1270Tyr)
c.3475A>T (p.Asn1159Tyr)
c.3556A>T (p.Asn1186Tyr)
n.1049A>T
c.3574A>T (p.Asn1192Tyr)
n.3947A>T
n.674A>T
c.2743A>T (p.Asn915Tyr)
c.2518A>T (p.Asn840Tyr)
c.3613A>T (p.Asn1205Tyr)
c.1586A>T
c.*909A>T (n.*909A>T)
n.4552A>T
n.3153A>T
c.3664A>T (p.Asn1222Tyr)
c.3712A>T (p.Asn1238Tyr)
c.3772A>T (p.Asn1258Tyr)
c.3322A>T (p.Asn1108Tyr)
c.1624A>T (p.Asn542Tyr)
c.1441A>T (p.Asn481Tyr)
c.3673A>T (p.Asn1225Tyr)
c.3625A>T (p.Asn1209Tyr)
c.3394A>T (p.Asn1132Tyr)
c.3295A>T (p.Asn1099Tyr)
c.2476A>T (p.Asn826Tyr)
n.4027A>T
 gnomAD v4
13g.51937571T>CCA250073678ATP7Bc.*1458A>G (n.*1458A>G)
c.*2552A>G (n.*2552A>G)
c.3187A>G (p.Asn1063Asp)
c.3808A>G (p.Asn1270Asp)
c.3475A>G (p.Asn1159Asp)
c.3556A>G (p.Asn1186Asp)
n.1049A>G
c.3574A>G (p.Asn1192Asp)
n.3947A>G
n.674A>G
c.2743A>G (p.Asn915Asp)
c.2518A>G (p.Asn840Asp)
c.3613A>G (p.Asn1205Asp)
c.1586A>G
c.*909A>G (n.*909A>G)
n.4552A>G
n.3153A>G
c.3664A>G (p.Asn1222Asp)
c.3712A>G (p.Asn1238Asp)
c.3772A>G (p.Asn1258Asp)
c.3322A>G (p.Asn1108Asp)
c.1624A>G (p.Asn542Asp)
c.1441A>G (p.Asn481Asp)
c.3673A>G (p.Asn1225Asp)
c.3625A>G (p.Asn1209Asp)
c.3394A>G (p.Asn1132Asp)
c.3295A>G (p.Asn1099Asp)
c.2476A>G (p.Asn826Asp)
n.4027A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51937571T>GCA388021963ATP7Bc.*1458A>C (n.*1458A>C)
c.*2552A>C (n.*2552A>C)
c.3187A>C (p.Asn1063His)
c.3808A>C (p.Asn1270His)
c.3475A>C (p.Asn1159His)
c.3556A>C (p.Asn1186His)
n.1049A>C
c.3574A>C (p.Asn1192His)
n.3947A>C
n.674A>C
c.2743A>C (p.Asn915His)
c.2518A>C (p.Asn840His)
c.3613A>C (p.Asn1205His)
c.1586A>C
c.*909A>C (n.*909A>C)
n.4552A>C
n.3153A>C
c.3664A>C (p.Asn1222His)
c.3712A>C (p.Asn1238His)
c.3772A>C (p.Asn1258His)
c.3322A>C (p.Asn1108His)
c.1624A>C (p.Asn542His)
c.1441A>C (p.Asn481His)
c.3673A>C (p.Asn1225His)
c.3625A>C (p.Asn1209His)
c.3394A>C (p.Asn1132His)
c.3295A>C (p.Asn1099His)
c.2476A>C (p.Asn826His)
n.4027A>C
13g.51937571T=CA2091554016ATP7Bc.*1458A= (n.*1458A=)
c.*2552A= (n.*2552A=)
c.3187A= (p.Asn1063=)
c.3808A= (p.Asn1270=)
c.3475A= (p.Asn1159=)
c.3556A= (p.Asn1186=)
n.1049A=
c.3574A= (p.Asn1192=)
n.3947A=
n.674A=
c.2743A= (p.Asn915=)
c.2518A= (p.Asn840=)
c.3613A= (p.Asn1205=)
c.1586A=
c.*909A= (n.*909A=)
n.4552A=
n.3153A=
c.3664A= (p.Asn1222=)
c.3712A= (p.Asn1238=)
c.3772A= (p.Asn1258=)
c.3322A= (p.Asn1108=)
c.1624A= (p.Asn542=)
c.1441A= (p.Asn481=)
c.3673A= (p.Asn1225=)
c.3625A= (p.Asn1209=)
c.3394A= (p.Asn1132=)
c.3295A= (p.Asn1099=)
c.2476A= (p.Asn826=)
n.4027A=
13g.51937572G>ACA484024333ATP7Bc.*1457C>T (n.*1457C>T)
c.*2551C>T (n.*2551C>T)
c.3186C>T (p.Val1062=)
c.3807C>T (p.Val1269=)
c.3474C>T (p.Val1158=)
c.3555C>T (p.Val1185=)
n.1048C>T
c.3573C>T (p.Val1191=)
n.3946C>T
n.673C>T
c.2742C>T (p.Val914=)
c.2517C>T (p.Val839=)
c.3612C>T (p.Val1204=)
c.1585C>T
c.*908C>T (n.*908C>T)
n.4551C>T
n.3152C>T
c.3663C>T (p.Val1221=)
c.3711C>T (p.Val1237=)
c.3771C>T (p.Val1257=)
c.3321C>T (p.Val1107=)
c.1623C>T (p.Val541=)
c.1440C>T (p.Val480=)
c.3672C>T (p.Val1224=)
c.3624C>T (p.Val1208=)
c.3393C>T (p.Val1131=)
c.3294C>T (p.Val1098=)
c.2475C>T (p.Val825=)
n.4026C>T
13g.51937572G>CCA484024335ATP7Bc.*1457C>G (n.*1457C>G)
c.*2551C>G (n.*2551C>G)
c.3186C>G (p.Val1062=)
c.3807C>G (p.Val1269=)
c.3474C>G (p.Val1158=)
c.3555C>G (p.Val1185=)
n.1048C>G
c.3573C>G (p.Val1191=)
n.3946C>G
n.673C>G
c.2742C>G (p.Val914=)
c.2517C>G (p.Val839=)
c.3612C>G (p.Val1204=)
c.1585C>G
c.*908C>G (n.*908C>G)
n.4551C>G
n.3152C>G
c.3663C>G (p.Val1221=)
c.3711C>G (p.Val1237=)
c.3771C>G (p.Val1257=)
c.3321C>G (p.Val1107=)
c.1623C>G (p.Val541=)
c.1440C>G (p.Val480=)
c.3672C>G (p.Val1224=)
c.3624C>G (p.Val1208=)
c.3393C>G (p.Val1131=)
c.3294C>G (p.Val1098=)
c.2475C>G (p.Val825=)
n.4026C>G
 dbSNP
13g.51937572G=CA2091554019ATP7Bc.*1457C= (n.*1457C=)
c.*2551C= (n.*2551C=)
c.3186C= (p.Val1062=)
c.3807C= (p.Val1269=)
c.3474C= (p.Val1158=)
c.3555C= (p.Val1185=)
n.1048C=
c.3573C= (p.Val1191=)
n.3946C=
n.673C=
c.2742C= (p.Val914=)
c.2517C= (p.Val839=)
c.3612C= (p.Val1204=)
c.1585C=
c.*908C= (n.*908C=)
n.4551C=
n.3152C=
c.3663C= (p.Val1221=)
c.3711C= (p.Val1237=)
c.3771C= (p.Val1257=)
c.3321C= (p.Val1107=)
c.1623C= (p.Val541=)
c.1440C= (p.Val480=)
c.3672C= (p.Val1224=)
c.3624C= (p.Val1208=)
c.3393C= (p.Val1131=)
c.3294C= (p.Val1098=)
c.2475C= (p.Val825=)
n.4026C=
13g.51937572G>TCA484024334ATP7Bc.*1457C>A (n.*1457C>A)
c.*2551C>A (n.*2551C>A)
c.3186C>A (p.Val1062=)
c.3807C>A (p.Val1269=)
c.3474C>A (p.Val1158=)
c.3555C>A (p.Val1185=)
n.1048C>A
c.3573C>A (p.Val1191=)
n.3946C>A
n.673C>A
c.2742C>A (p.Val914=)
c.2517C>A (p.Val839=)
c.3612C>A (p.Val1204=)
c.1585C>A
c.*908C>A (n.*908C>A)
n.4551C>A
n.3152C>A
c.3663C>A (p.Val1221=)
c.3711C>A (p.Val1237=)
c.3771C>A (p.Val1257=)
c.3321C>A (p.Val1107=)
c.1623C>A (p.Val541=)
c.1440C>A (p.Val480=)
c.3672C>A (p.Val1224=)
c.3624C>A (p.Val1208=)
c.3393C>A (p.Val1131=)
c.3294C>A (p.Val1098=)
c.2475C>A (p.Val825=)
n.4026C>A
13g.51937573A>CCA388021971ATP7Bc.*1456T>G (n.*1456T>G)
c.*2550T>G (n.*2550T>G)
c.3185T>G (p.Val1062Gly)
c.3806T>G (p.Val1269Gly)
c.3473T>G (p.Val1158Gly)
c.3554T>G (p.Val1185Gly)
n.1047T>G
c.3572T>G (p.Val1191Gly)
n.3945T>G
n.672T>G
c.2741T>G (p.Val914Gly)
c.2516T>G (p.Val839Gly)
c.3611T>G (p.Val1204Gly)
c.1584T>G
c.*907T>G (n.*907T>G)
n.4550T>G
n.3151T>G
c.3662T>G (p.Val1221Gly)
c.3710T>G (p.Val1237Gly)
c.3770T>G (p.Val1257Gly)
c.3320T>G (p.Val1107Gly)
c.1622T>G (p.Val541Gly)
c.1439T>G (p.Val480Gly)
c.3671T>G (p.Val1224Gly)
c.3623T>G (p.Val1208Gly)
c.3392T>G (p.Val1131Gly)
c.3293T>G (p.Val1098Gly)
c.2474T>G (p.Val825Gly)
n.4025T>G
13g.51937573A>GCA388021972ATP7Bc.*1456T>C (n.*1456T>C)
c.*2550T>C (n.*2550T>C)
c.3185T>C (p.Val1062Ala)
c.3806T>C (p.Val1269Ala)
c.3473T>C (p.Val1158Ala)
c.3554T>C (p.Val1185Ala)
n.1047T>C
c.3572T>C (p.Val1191Ala)
n.3945T>C
n.672T>C
c.2741T>C (p.Val914Ala)
c.2516T>C (p.Val839Ala)
c.3611T>C (p.Val1204Ala)
c.1584T>C
c.*907T>C (n.*907T>C)
n.4550T>C
n.3151T>C
c.3662T>C (p.Val1221Ala)
c.3710T>C (p.Val1237Ala)
c.3770T>C (p.Val1257Ala)
c.3320T>C (p.Val1107Ala)
c.1622T>C (p.Val541Ala)
c.1439T>C (p.Val480Ala)
c.3671T>C (p.Val1224Ala)
c.3623T>C (p.Val1208Ala)
c.3392T>C (p.Val1131Ala)
c.3293T>C (p.Val1098Ala)
c.2474T>C (p.Val825Ala)
n.4025T>C
13g.51937573A>TCA388021974ATP7Bc.*1456T>A (n.*1456T>A)
c.*2550T>A (n.*2550T>A)
c.3185T>A (p.Val1062Asp)
c.3806T>A (p.Val1269Asp)
c.3473T>A (p.Val1158Asp)
c.3554T>A (p.Val1185Asp)
n.1047T>A
c.3572T>A (p.Val1191Asp)
n.3945T>A
n.672T>A
c.2741T>A (p.Val914Asp)
c.2516T>A (p.Val839Asp)
c.3611T>A (p.Val1204Asp)
c.1584T>A
c.*907T>A (n.*907T>A)
n.4550T>A
n.3151T>A
c.3662T>A (p.Val1221Asp)
c.3710T>A (p.Val1237Asp)
c.3770T>A (p.Val1257Asp)
c.3320T>A (p.Val1107Asp)
c.1622T>A (p.Val541Asp)
c.1439T>A (p.Val480Asp)
c.3671T>A (p.Val1224Asp)
c.3623T>A (p.Val1208Asp)
c.3392T>A (p.Val1131Asp)
c.3293T>A (p.Val1098Asp)
c.2474T>A (p.Val825Asp)
n.4025T>A
13g.51937574C>ACA388021976ATP7Bc.*1455G>T (n.*1455G>T)
c.*2549G>T (n.*2549G>T)
c.3184G>T (p.Val1062Phe)
c.3805G>T (p.Val1269Phe)
c.3472G>T (p.Val1158Phe)
c.3553G>T (p.Val1185Phe)
n.1046G>T
c.3571G>T (p.Val1191Phe)
n.3944G>T
n.671G>T
c.2740G>T (p.Val914Phe)
c.2515G>T (p.Val839Phe)
c.3610G>T (p.Val1204Phe)
c.1583G>T
c.*906G>T (n.*906G>T)
n.4549G>T
n.3150G>T
c.3661G>T (p.Val1221Phe)
c.3709G>T (p.Val1237Phe)
c.3769G>T (p.Val1257Phe)
c.3319G>T (p.Val1107Phe)
c.1621G>T (p.Val541Phe)
c.1438G>T (p.Val480Phe)
c.3670G>T (p.Val1224Phe)
c.3622G>T (p.Val1208Phe)
c.3391G>T (p.Val1131Phe)
c.3292G>T (p.Val1098Phe)
c.2473G>T (p.Val825Phe)
n.4024G>T
13g.51937574C=CA2091554022ATP7Bc.*1455G= (n.*1455G=)
c.*2549G= (n.*2549G=)
c.3184G= (p.Val1062=)
c.3805G= (p.Val1269=)
c.3472G= (p.Val1158=)
c.3553G= (p.Val1185=)
n.1046G=
c.3571G= (p.Val1191=)
n.3944G=
n.671G=
c.2740G= (p.Val914=)
c.2515G= (p.Val839=)
c.3610G= (p.Val1204=)
c.1583G=
c.*906G= (n.*906G=)
n.4549G=
n.3150G=
c.3661G= (p.Val1221=)
c.3709G= (p.Val1237=)
c.3769G= (p.Val1257=)
c.3319G= (p.Val1107=)
c.1621G= (p.Val541=)
c.1438G= (p.Val480=)
c.3670G= (p.Val1224=)
c.3622G= (p.Val1208=)
c.3391G= (p.Val1131=)
c.3292G= (p.Val1098=)
c.2473G= (p.Val825=)
n.4024G=
13g.51937574C>GCA250073682ATP7Bc.*1455G>C (n.*1455G>C)
c.*2549G>C (n.*2549G>C)
c.3184G>C (p.Val1062Leu)
c.3805G>C (p.Val1269Leu)
c.3472G>C (p.Val1158Leu)
c.3553G>C (p.Val1185Leu)
n.1046G>C
c.3571G>C (p.Val1191Leu)
n.3944G>C
n.671G>C
c.2740G>C (p.Val914Leu)
c.2515G>C (p.Val839Leu)
c.3610G>C (p.Val1204Leu)
c.1583G>C
c.*906G>C (n.*906G>C)
n.4549G>C
n.3150G>C
c.3661G>C (p.Val1221Leu)
c.3709G>C (p.Val1237Leu)
c.3769G>C (p.Val1257Leu)
c.3319G>C (p.Val1107Leu)
c.1621G>C (p.Val541Leu)
c.1438G>C (p.Val480Leu)
c.3670G>C (p.Val1224Leu)
c.3622G>C (p.Val1208Leu)
c.3391G>C (p.Val1131Leu)
c.3292G>C (p.Val1098Leu)
c.2473G>C (p.Val825Leu)
n.4024G>C
 dbSNP
13g.51937574C>TCA388021984ATP7Bc.*1455G>A (n.*1455G>A)
c.*2549G>A (n.*2549G>A)
c.3184G>A (p.Val1062Ile)
c.3805G>A (p.Val1269Ile)
c.3472G>A (p.Val1158Ile)
c.3553G>A (p.Val1185Ile)
n.1046G>A
c.3571G>A (p.Val1191Ile)
n.3944G>A
n.671G>A
c.2740G>A (p.Val914Ile)
c.2515G>A (p.Val839Ile)
c.3610G>A (p.Val1204Ile)
c.1583G>A
c.*906G>A (n.*906G>A)
n.4549G>A
n.3150G>A
c.3661G>A (p.Val1221Ile)
c.3709G>A (p.Val1237Ile)
c.3769G>A (p.Val1257Ile)
c.3319G>A (p.Val1107Ile)
c.1621G>A (p.Val541Ile)
c.1438G>A (p.Val480Ile)
c.3670G>A (p.Val1224Ile)
c.3622G>A (p.Val1208Ile)
c.3391G>A (p.Val1131Ile)
c.3292G>A (p.Val1098Ile)
c.2473G>A (p.Val825Ile)
n.4024G>A
13g.51937577dupCA2573053840ATP7Bc.*1455dup (n.*1455dup)
c.*2549dup (n.*2549dup)
c.3184dup (p.Val1062GlyfsTer3)
c.3805dup (p.Val1269GlyfsTer3)
c.3472dup (p.Val1158GlyfsTer3)
c.3553dup (p.Val1185GlyfsTer3)
n.1046dup
c.3571dup (p.Val1191GlyfsTer3)
n.3944dup
n.671dup
c.2740dup (p.Val914GlyfsTer3)
c.2515dup (p.Val839GlyfsTer3)
c.3610dup (p.Val1204GlyfsTer3)
c.1583dup
c.*906dup (n.*906dup)
n.4549dup
n.3150dup
c.3661dup (p.Val1221GlyfsTer3)
c.3709dup (p.Val1237GlyfsTer3)
c.3769dup (p.Val1257GlyfsTer3)
c.3319dup (p.Val1107GlyfsTer3)
c.1621dup (p.Val541GlyfsTer3)
c.1438dup (p.Val480GlyfsTer3)
c.3670dup (p.Val1224GlyfsTer3)
c.3622dup (p.Val1208GlyfsTer3)
c.3391dup (p.Val1131GlyfsTer3)
c.3292dup (p.Val1098GlyfsTer3)
c.2473dup (p.Val825GlyfsTer3)
n.4024dup
 ClinVar dbSNP
13g.51937575C>ACA484024338ATP7Bc.*1454G>T (n.*1454G>T)
c.*2548G>T (n.*2548G>T)
c.3183G>T (p.Gly1061=)
c.3804G>T (p.Gly1268=)
c.3471G>T (p.Gly1157=)
c.3552G>T (p.Gly1184=)
n.1045G>T
c.3570G>T (p.Gly1190=)
n.3943G>T
n.670G>T
c.2739G>T (p.Gly913=)
c.2514G>T (p.Gly838=)
c.3609G>T (p.Gly1203=)
c.1582G>T
c.*905G>T (n.*905G>T)
n.4548G>T
n.3149G>T
c.3660G>T (p.Gly1220=)
c.3708G>T (p.Gly1236=)
c.3768G>T (p.Gly1256=)
c.3318G>T (p.Gly1106=)
c.1620G>T (p.Gly540=)
c.1437G>T (p.Gly479=)
c.3669G>T (p.Gly1223=)
c.3621G>T (p.Gly1207=)
c.3390G>T (p.Gly1130=)
c.3291G>T (p.Gly1097=)
c.2472G>T (p.Gly824=)
n.4023G>T
13g.51937575C>GCA484024337ATP7Bc.*1454G>C (n.*1454G>C)
c.*2548G>C (n.*2548G>C)
c.3183G>C (p.Gly1061=)
c.3804G>C (p.Gly1268=)
c.3471G>C (p.Gly1157=)
c.3552G>C (p.Gly1184=)
n.1045G>C
c.3570G>C (p.Gly1190=)
n.3943G>C
n.670G>C
c.2739G>C (p.Gly913=)
c.2514G>C (p.Gly838=)
c.3609G>C (p.Gly1203=)
c.1582G>C
c.*905G>C (n.*905G>C)
n.4548G>C
n.3149G>C
c.3660G>C (p.Gly1220=)
c.3708G>C (p.Gly1236=)
c.3768G>C (p.Gly1256=)
c.3318G>C (p.Gly1106=)
c.1620G>C (p.Gly540=)
c.1437G>C (p.Gly479=)
c.3669G>C (p.Gly1223=)
c.3621G>C (p.Gly1207=)
c.3390G>C (p.Gly1130=)
c.3291G>C (p.Gly1097=)
c.2472G>C (p.Gly824=)
n.4023G>C
 gnomAD v4
13g.51937575C>TCA484024336ATP7Bc.*1454G>A (n.*1454G>A)
c.*2548G>A (n.*2548G>A)
c.3183G>A (p.Gly1061=)
c.3804G>A (p.Gly1268=)
c.3471G>A (p.Gly1157=)
c.3552G>A (p.Gly1184=)
n.1045G>A
c.3570G>A (p.Gly1190=)
n.3943G>A
n.670G>A
c.2739G>A (p.Gly913=)
c.2514G>A (p.Gly838=)
c.3609G>A (p.Gly1203=)
c.1582G>A
c.*905G>A (n.*905G>A)
n.4548G>A
n.3149G>A
c.3660G>A (p.Gly1220=)
c.3708G>A (p.Gly1236=)
c.3768G>A (p.Gly1256=)
c.3318G>A (p.Gly1106=)
c.1620G>A (p.Gly540=)
c.1437G>A (p.Gly479=)
c.3669G>A (p.Gly1223=)
c.3621G>A (p.Gly1207=)
c.3390G>A (p.Gly1130=)
c.3291G>A (p.Gly1097=)
c.2472G>A (p.Gly824=)
n.4023G>A
13g.51937576C>ACA388021987ATP7Bc.*1453G>T (n.*1453G>T)
c.*2547G>T (n.*2547G>T)
c.3182G>T (p.Gly1061Val)
c.3803G>T (p.Gly1268Val)
c.3470G>T (p.Gly1157Val)
c.3551G>T (p.Gly1184Val)
n.1044G>T
c.3569G>T (p.Gly1190Val)
n.3942G>T
n.669G>T
c.2738G>T (p.Gly913Val)
c.2513G>T (p.Gly838Val)
c.3608G>T (p.Gly1203Val)
c.1581G>T
c.*904G>T (n.*904G>T)
n.4547G>T
n.3148G>T
c.3659G>T (p.Gly1220Val)
c.3707G>T (p.Gly1236Val)
c.3767G>T (p.Gly1256Val)
c.3317G>T (p.Gly1106Val)
c.1619G>T (p.Gly540Val)
c.1436G>T (p.Gly479Val)
c.3668G>T (p.Gly1223Val)
c.3620G>T (p.Gly1207Val)
c.3389G>T (p.Gly1130Val)
c.3290G>T (p.Gly1097Val)
c.2471G>T (p.Gly824Val)
n.4022G>T
13g.51937576C>GCA388021989ATP7Bc.*1453G>C (n.*1453G>C)
c.*2547G>C (n.*2547G>C)
c.3182G>C (p.Gly1061Ala)
c.3803G>C (p.Gly1268Ala)
c.3470G>C (p.Gly1157Ala)
c.3551G>C (p.Gly1184Ala)
n.1044G>C
c.3569G>C (p.Gly1190Ala)
n.3942G>C
n.669G>C
c.2738G>C (p.Gly913Ala)
c.2513G>C (p.Gly838Ala)
c.3608G>C (p.Gly1203Ala)
c.1581G>C
c.*904G>C (n.*904G>C)
n.4547G>C
n.3148G>C
c.3659G>C (p.Gly1220Ala)
c.3707G>C (p.Gly1236Ala)
c.3767G>C (p.Gly1256Ala)
c.3317G>C (p.Gly1106Ala)
c.1619G>C (p.Gly540Ala)
c.1436G>C (p.Gly479Ala)
c.3668G>C (p.Gly1223Ala)
c.3620G>C (p.Gly1207Ala)
c.3389G>C (p.Gly1130Ala)
c.3290G>C (p.Gly1097Ala)
c.2471G>C (p.Gly824Ala)
n.4022G>C
13g.51937576C>TCA388021990ATP7Bc.*1453G>A (n.*1453G>A)
c.*2547G>A (n.*2547G>A)
c.3182G>A (p.Gly1061Glu)
c.3803G>A (p.Gly1268Glu)
c.3470G>A (p.Gly1157Glu)
c.3551G>A (p.Gly1184Glu)
n.1044G>A
c.3569G>A (p.Gly1190Glu)
n.3942G>A
n.669G>A
c.2738G>A (p.Gly913Glu)
c.2513G>A (p.Gly838Glu)
c.3608G>A (p.Gly1203Glu)
c.1581G>A
c.*904G>A (n.*904G>A)
n.4547G>A
n.3148G>A
c.3659G>A (p.Gly1220Glu)
c.3707G>A (p.Gly1236Glu)
c.3767G>A (p.Gly1256Glu)
c.3317G>A (p.Gly1106Glu)
c.1619G>A (p.Gly540Glu)
c.1436G>A (p.Gly479Glu)
c.3668G>A (p.Gly1223Glu)
c.3620G>A (p.Gly1207Glu)
c.3389G>A (p.Gly1130Glu)
c.3290G>A (p.Gly1097Glu)
c.2471G>A (p.Gly824Glu)
n.4022G>A
13g.51937580_51937589delCA2695218758ATP7Bc.*1444_*1453del (n.*1444_*1453del)
c.*2538_*2547del (n.*2538_*2547del)
c.3173_3182del (p.Val1058GlyfsTer?)
c.3794_3803del (p.Val1265GlyfsTer?)
c.3461_3470del (p.Val1154GlyfsTer?)
c.3542_3551del (p.Val1181GlyfsTer?)
n.1035_1044del
c.3560_3569del (p.Val1187GlyfsTer?)
n.3933_3942del
n.660_669del
c.2729_2738del (p.Val910GlyfsTer?)
c.2504_2513del (p.Val835GlyfsTer?)
c.3599_3608del (p.Val1200GlyfsTer?)
c.1572_1581del
c.*895_*904del (n.*895_*904del)
n.4538_4547del
n.3139_3148del
c.3650_3659del (p.Val1217GlyfsTer?)
c.3698_3707del (p.Val1233GlyfsTer?)
c.3758_3767del (p.Val1253GlyfsTer?)
c.3308_3317del (p.Val1103GlyfsTer?)
c.1610_1619del (p.Val537GlyfsTer?)
c.1427_1436del (p.Val476GlyfsTer?)
c.3659_3668del (p.Val1220GlyfsTer?)
c.3611_3620del (p.Val1204GlyfsTer?)
c.3380_3389del (p.Val1127GlyfsTer?)
c.3281_3290del (p.Val1094GlyfsTer?)
c.2462_2471del (p.Val821GlyfsTer?)
n.4013_4022del
13g.51937577C>ACA388021992ATP7Bc.*1452G>T (n.*1452G>T)
c.*2546G>T (n.*2546G>T)
c.3181G>T (p.Gly1061Trp)
c.3802G>T (p.Gly1268Trp)
c.3469G>T (p.Gly1157Trp)
c.3550G>T (p.Gly1184Trp)
n.1043G>T
c.3568G>T (p.Gly1190Trp)
n.3941G>T
n.668G>T
c.2737G>T (p.Gly913Trp)
c.2512G>T (p.Gly838Trp)
c.3607G>T (p.Gly1203Trp)
c.1580G>T
c.*903G>T (n.*903G>T)
n.4546G>T
n.3147G>T
c.3658G>T (p.Gly1220Trp)
c.3706G>T (p.Gly1236Trp)
c.3766G>T (p.Gly1256Trp)
c.3316G>T (p.Gly1106Trp)
c.1618G>T (p.Gly540Trp)
c.1435G>T (p.Gly479Trp)
c.3667G>T (p.Gly1223Trp)
c.3619G>T (p.Gly1207Trp)
c.3388G>T (p.Gly1130Trp)
c.3289G>T (p.Gly1097Trp)
c.2470G>T (p.Gly824Trp)
n.4021G>T
13g.51937577C=CA2091554030ATP7Bc.*1452G= (n.*1452G=)
c.*2546G= (n.*2546G=)
c.3181G= (p.Gly1061=)
c.3802G= (p.Gly1268=)
c.3469G= (p.Gly1157=)
c.3550G= (p.Gly1184=)
n.1043G=
c.3568G= (p.Gly1190=)
n.3941G=
n.668G=
c.2737G= (p.Gly913=)
c.2512G= (p.Gly838=)
c.3607G= (p.Gly1203=)
c.1580G=
c.*903G= (n.*903G=)
n.4546G=
n.3147G=
c.3658G= (p.Gly1220=)
c.3706G= (p.Gly1236=)
c.3766G= (p.Gly1256=)
c.3316G= (p.Gly1106=)
c.1618G= (p.Gly540=)
c.1435G= (p.Gly479=)
c.3667G= (p.Gly1223=)
c.3619G= (p.Gly1207=)
c.3388G= (p.Gly1130=)
c.3289G= (p.Gly1097=)
c.2470G= (p.Gly824=)
n.4021G=
13g.51937577C>GCA388021993ATP7Bc.*1452G>C (n.*1452G>C)
c.*2546G>C (n.*2546G>C)
c.3181G>C (p.Gly1061Arg)
c.3802G>C (p.Gly1268Arg)
c.3469G>C (p.Gly1157Arg)
c.3550G>C (p.Gly1184Arg)
n.1043G>C
c.3568G>C (p.Gly1190Arg)
n.3941G>C
n.668G>C
c.2737G>C (p.Gly913Arg)
c.2512G>C (p.Gly838Arg)
c.3607G>C (p.Gly1203Arg)
c.1580G>C
c.*903G>C (n.*903G>C)
n.4546G>C
n.3147G>C
c.3658G>C (p.Gly1220Arg)
c.3706G>C (p.Gly1236Arg)
c.3766G>C (p.Gly1256Arg)
c.3316G>C (p.Gly1106Arg)
c.1618G>C (p.Gly540Arg)
c.1435G>C (p.Gly479Arg)
c.3667G>C (p.Gly1223Arg)
c.3619G>C (p.Gly1207Arg)
c.3388G>C (p.Gly1130Arg)
c.3289G>C (p.Gly1097Arg)
c.2470G>C (p.Gly824Arg)
n.4021G>C
13g.51937577C>TCA388021995ATP7Bc.*1452G>A (n.*1452G>A)
c.*2546G>A (n.*2546G>A)
c.3181G>A (p.Gly1061Arg)
c.3802G>A (p.Gly1268Arg)
c.3469G>A (p.Gly1157Arg)
c.3550G>A (p.Gly1184Arg)
n.1043G>A
c.3568G>A (p.Gly1190Arg)
n.3941G>A
n.668G>A
c.2737G>A (p.Gly913Arg)
c.2512G>A (p.Gly838Arg)
c.3607G>A (p.Gly1203Arg)
c.1580G>A
c.*903G>A (n.*903G>A)
n.4546G>A
n.3147G>A
c.3658G>A (p.Gly1220Arg)
c.3706G>A (p.Gly1236Arg)
c.3766G>A (p.Gly1256Arg)
c.3316G>A (p.Gly1106Arg)
c.1618G>A (p.Gly540Arg)
c.1435G>A (p.Gly479Arg)
c.3667G>A (p.Gly1223Arg)
c.3619G>A (p.Gly1207Arg)
c.3388G>A (p.Gly1130Arg)
c.3289G>A (p.Gly1097Arg)
c.2470G>A (p.Gly824Arg)
n.4021G>A
 dbSNP gnomAD v2 gnomAD v4
13g.51937578A>CCA388022001ATP7Bc.*1451T>G (n.*1451T>G)
c.*2545T>G (n.*2545T>G)
c.3180T>G (p.Asp1060Glu)
c.3801T>G (p.Asp1267Glu)
c.3468T>G (p.Asp1156Glu)
c.3549T>G (p.Asp1183Glu)
n.1042T>G
c.3567T>G (p.Asp1189Glu)
n.3940T>G
n.667T>G
c.2736T>G (p.Asp912Glu)
c.2511T>G (p.Asp837Glu)
c.3606T>G (p.Asp1202Glu)
c.1579T>G
c.*902T>G (n.*902T>G)
n.4545T>G
n.3146T>G
c.3657T>G (p.Asp1219Glu)
c.3705T>G (p.Asp1235Glu)
c.3765T>G (p.Asp1255Glu)
c.3315T>G (p.Asp1105Glu)
c.1617T>G (p.Asp539Glu)
c.1434T>G (p.Asp478Glu)
c.3666T>G (p.Asp1222Glu)
c.3618T>G (p.Asp1206Glu)
c.3387T>G (p.Asp1129Glu)
c.3288T>G (p.Asp1096Glu)
c.2469T>G (p.Asp823Glu)
n.4020T>G
13g.51937578A>GCA484024339ATP7Bc.*1451T>C (n.*1451T>C)
c.*2545T>C (n.*2545T>C)
c.3180T>C (p.Asp1060=)
c.3801T>C (p.Asp1267=)
c.3468T>C (p.Asp1156=)
c.3549T>C (p.Asp1183=)
n.1042T>C
c.3567T>C (p.Asp1189=)
n.3940T>C
n.667T>C
c.2736T>C (p.Asp912=)
c.2511T>C (p.Asp837=)
c.3606T>C (p.Asp1202=)
c.1579T>C
c.*902T>C (n.*902T>C)
n.4545T>C
n.3146T>C
c.3657T>C (p.Asp1219=)
c.3705T>C (p.Asp1235=)
c.3765T>C (p.Asp1255=)
c.3315T>C (p.Asp1105=)
c.1617T>C (p.Asp539=)
c.1434T>C (p.Asp478=)
c.3666T>C (p.Asp1222=)
c.3618T>C (p.Asp1206=)
c.3387T>C (p.Asp1129=)
c.3288T>C (p.Asp1096=)
c.2469T>C (p.Asp823=)
n.4020T>C
13g.51937578A>TCA388022002ATP7Bc.*1451T>A (n.*1451T>A)
c.*2545T>A (n.*2545T>A)
c.3180T>A (p.Asp1060Glu)
c.3801T>A (p.Asp1267Glu)
c.3468T>A (p.Asp1156Glu)
c.3549T>A (p.Asp1183Glu)
n.1042T>A
c.3567T>A (p.Asp1189Glu)
n.3940T>A
n.667T>A
c.2736T>A (p.Asp912Glu)
c.2511T>A (p.Asp837Glu)
c.3606T>A (p.Asp1202Glu)
c.1579T>A
c.*902T>A (n.*902T>A)
n.4545T>A
n.3146T>A
c.3657T>A (p.Asp1219Glu)
c.3705T>A (p.Asp1235Glu)
c.3765T>A (p.Asp1255Glu)
c.3315T>A (p.Asp1105Glu)
c.1617T>A (p.Asp539Glu)
c.1434T>A (p.Asp478Glu)
c.3666T>A (p.Asp1222Glu)
c.3618T>A (p.Asp1206Glu)
c.3387T>A (p.Asp1129Glu)
c.3288T>A (p.Asp1096Glu)
c.2469T>A (p.Asp823Glu)
n.4020T>A
13g.51937578_51937579delinsATCA2091554035ATP7Bc.*1450_*1451delinsAT (n.*1450_*1451delinsAT)
c.*2544_*2545delinsAT (n.*2544_*2545delinsAT)
c.3179_3180delinsAT (p.Asp1060=)
c.3800_3801delinsAT (p.Asp1267=)
c.3467_3468delinsAT (p.Asp1156=)
c.3548_3549delinsAT (p.Asp1183=)
n.1041_1042delinsAT
c.3566_3567delinsAT (p.Asp1189=)
n.3939_3940delinsAT
n.666_667delinsAT
c.2735_2736delinsAT (p.Asp912=)
c.2510_2511delinsAT (p.Asp837=)
c.3605_3606delinsAT (p.Asp1202=)
c.1578_1579delinsAT
c.*901_*902delinsAT (n.*901_*902delinsAT)
n.4544_4545delinsAT
n.3145_3146delinsAT
c.3656_3657delinsAT (p.Asp1219=)
c.3704_3705delinsAT (p.Asp1235=)
c.3764_3765delinsAT (p.Asp1255=)
c.3314_3315delinsAT (p.Asp1105=)
c.1616_1617delinsAT (p.Asp539=)
c.1433_1434delinsAT (p.Asp478=)
c.3665_3666delinsAT (p.Asp1222=)
c.3617_3618delinsAT (p.Asp1206=)
c.3386_3387delinsAT (p.Asp1129=)
c.3287_3288delinsAT (p.Asp1096=)
c.2468_2469delinsAT (p.Asp823=)
n.4019_4020delinsAT
13g.51937579delCA16041664ATP7Bc.*1450del (n.*1450del)
c.*2544del (n.*2544del)
c.3179del (p.Asp1060ValfsTer?)
c.3800del (p.Asp1267ValfsTer?)
c.3467del (p.Asp1156ValfsTer?)
c.3548del (p.Asp1183ValfsTer?)
n.1041del
c.3566del (p.Asp1189ValfsTer?)
n.3939del
n.666del
c.2735del (p.Asp912ValfsTer?)
c.2510del (p.Asp837ValfsTer?)
c.3605del (p.Asp1202ValfsTer?)
c.1578del
c.*901del (n.*901del)
n.4544del
n.3145del
c.3656del (p.Asp1219ValfsTer?)
c.3704del (p.Asp1235ValfsTer?)
c.3764del (p.Asp1255ValfsTer?)
c.3314del (p.Asp1105ValfsTer?)
c.1616del (p.Asp539ValfsTer?)
c.1433del (p.Asp478ValfsTer?)
c.3665del (p.Asp1222ValfsTer?)
c.3617del (p.Asp1206ValfsTer?)
c.3386del (p.Asp1129ValfsTer?)
c.3287del (p.Asp1096ValfsTer?)
c.2468del (p.Asp823ValfsTer?)
n.4019del
 ClinVar dbSNP
13g.51937579T>ACA388022006ATP7Bc.*1450A>T (n.*1450A>T)
c.*2544A>T (n.*2544A>T)
c.3179A>T (p.Asp1060Val)
c.3800A>T (p.Asp1267Val)
c.3467A>T (p.Asp1156Val)
c.3548A>T (p.Asp1183Val)
n.1041A>T
c.3566A>T (p.Asp1189Val)
n.3939A>T
n.666A>T
c.2735A>T (p.Asp912Val)
c.2510A>T (p.Asp837Val)
c.3605A>T (p.Asp1202Val)
c.1578A>T
c.*901A>T (n.*901A>T)
n.4544A>T
n.3145A>T
c.3656A>T (p.Asp1219Val)
c.3704A>T (p.Asp1235Val)
c.3764A>T (p.Asp1255Val)
c.3314A>T (p.Asp1105Val)
c.1616A>T (p.Asp539Val)
c.1433A>T (p.Asp478Val)
c.3665A>T (p.Asp1222Val)
c.3617A>T (p.Asp1206Val)
c.3386A>T (p.Asp1129Val)
c.3287A>T (p.Asp1096Val)
c.2468A>T (p.Asp823Val)
n.4019A>T
 dbSNP gnomAD v4
13g.51937579T>CCA388022009ATP7Bc.*1450A>G (n.*1450A>G)
c.*2544A>G (n.*2544A>G)
c.3179A>G (p.Asp1060Gly)
c.3800A>G (p.Asp1267Gly)
c.3467A>G (p.Asp1156Gly)
c.3548A>G (p.Asp1183Gly)
n.1041A>G
c.3566A>G (p.Asp1189Gly)
n.3939A>G
n.666A>G
c.2735A>G (p.Asp912Gly)
c.2510A>G (p.Asp837Gly)
c.3605A>G (p.Asp1202Gly)
c.1578A>G
c.*901A>G (n.*901A>G)
n.4544A>G
n.3145A>G
c.3656A>G (p.Asp1219Gly)
c.3704A>G (p.Asp1235Gly)
c.3764A>G (p.Asp1255Gly)
c.3314A>G (p.Asp1105Gly)
c.1616A>G (p.Asp539Gly)
c.1433A>G (p.Asp478Gly)
c.3665A>G (p.Asp1222Gly)
c.3617A>G (p.Asp1206Gly)
c.3386A>G (p.Asp1129Gly)
c.3287A>G (p.Asp1096Gly)
c.2468A>G (p.Asp823Gly)
n.4019A>G
13g.51937579T>GCA388022010ATP7Bc.*1450A>C (n.*1450A>C)
c.*2544A>C (n.*2544A>C)
c.3179A>C (p.Asp1060Ala)
c.3800A>C (p.Asp1267Ala)
c.3467A>C (p.Asp1156Ala)
c.3548A>C (p.Asp1183Ala)
n.1041A>C
c.3566A>C (p.Asp1189Ala)
n.3939A>C
n.666A>C
c.2735A>C (p.Asp912Ala)
c.2510A>C (p.Asp837Ala)
c.3605A>C (p.Asp1202Ala)
c.1578A>C
c.*901A>C (n.*901A>C)
n.4544A>C
n.3145A>C
c.3656A>C (p.Asp1219Ala)
c.3704A>C (p.Asp1235Ala)
c.3764A>C (p.Asp1255Ala)
c.3314A>C (p.Asp1105Ala)
c.1616A>C (p.Asp539Ala)
c.1433A>C (p.Asp478Ala)
c.3665A>C (p.Asp1222Ala)
c.3617A>C (p.Asp1206Ala)
c.3386A>C (p.Asp1129Ala)
c.3287A>C (p.Asp1096Ala)
c.2468A>C (p.Asp823Ala)
n.4019A>C
 ClinVar dbSNP gnomAD v4
13g.51937579T=CA2091554051ATP7Bc.*1450A= (n.*1450A=)
c.*2544A= (n.*2544A=)
c.3179A= (p.Asp1060=)
c.3800A= (p.Asp1267=)
c.3467A= (p.Asp1156=)
c.3548A= (p.Asp1183=)
n.1041A=
c.3566A= (p.Asp1189=)
n.3939A=
n.666A=
c.2735A= (p.Asp912=)
c.2510A= (p.Asp837=)
c.3605A= (p.Asp1202=)
c.1578A=
c.*901A= (n.*901A=)
n.4544A=
n.3145A=
c.3656A= (p.Asp1219=)
c.3704A= (p.Asp1235=)
c.3764A= (p.Asp1255=)
c.3314A= (p.Asp1105=)
c.1616A= (p.Asp539=)
c.1433A= (p.Asp478=)
c.3665A= (p.Asp1222=)
c.3617A= (p.Asp1206=)
c.3386A= (p.Asp1129=)
c.3287A= (p.Asp1096=)
c.2468A= (p.Asp823=)
n.4019A=
13g.51937580C>ACA388022012ATP7Bc.*1449G>T (n.*1449G>T)
c.*2543G>T (n.*2543G>T)
c.3178G>T (p.Asp1060Tyr)
c.3799G>T (p.Asp1267Tyr)
c.3466G>T (p.Asp1156Tyr)
c.3547G>T (p.Asp1183Tyr)
n.1040G>T
c.3565G>T (p.Asp1189Tyr)
n.3938G>T
n.665G>T
c.2734G>T (p.Asp912Tyr)
c.2509G>T (p.Asp837Tyr)
c.3604G>T (p.Asp1202Tyr)
c.1577G>T
c.*900G>T (n.*900G>T)
n.4543G>T
n.3144G>T
c.3655G>T (p.Asp1219Tyr)
c.3703G>T (p.Asp1235Tyr)
c.3763G>T (p.Asp1255Tyr)
c.3313G>T (p.Asp1105Tyr)
c.1615G>T (p.Asp539Tyr)
c.1432G>T (p.Asp478Tyr)
c.3664G>T (p.Asp1222Tyr)
c.3616G>T (p.Asp1206Tyr)
c.3385G>T (p.Asp1129Tyr)
c.3286G>T (p.Asp1096Tyr)
c.2467G>T (p.Asp823Tyr)
n.4018G>T
13g.51937580C>GCA388022014ATP7Bc.*1449G>C (n.*1449G>C)
c.*2543G>C (n.*2543G>C)
c.3178G>C (p.Asp1060His)
c.3799G>C (p.Asp1267His)
c.3466G>C (p.Asp1156His)
c.3547G>C (p.Asp1183His)
n.1040G>C
c.3565G>C (p.Asp1189His)
n.3938G>C
n.665G>C
c.2734G>C (p.Asp912His)
c.2509G>C (p.Asp837His)
c.3604G>C (p.Asp1202His)
c.1577G>C
c.*900G>C (n.*900G>C)
n.4543G>C
n.3144G>C
c.3655G>C (p.Asp1219His)
c.3703G>C (p.Asp1235His)
c.3763G>C (p.Asp1255His)
c.3313G>C (p.Asp1105His)
c.1615G>C (p.Asp539His)
c.1432G>C (p.Asp478His)
c.3664G>C (p.Asp1222His)
c.3616G>C (p.Asp1206His)
c.3385G>C (p.Asp1129His)
c.3286G>C (p.Asp1096His)
c.2467G>C (p.Asp823His)
n.4018G>C
13g.51937580C>TCA388022015ATP7Bc.*1449G>A (n.*1449G>A)
c.*2543G>A (n.*2543G>A)
c.3178G>A (p.Asp1060Asn)
c.3799G>A (p.Asp1267Asn)
c.3466G>A (p.Asp1156Asn)
c.3547G>A (p.Asp1183Asn)
n.1040G>A
c.3565G>A (p.Asp1189Asn)
n.3938G>A
n.665G>A
c.2734G>A (p.Asp912Asn)
c.2509G>A (p.Asp837Asn)
c.3604G>A (p.Asp1202Asn)
c.1577G>A
c.*900G>A (n.*900G>A)
n.4543G>A
n.3144G>A
c.3655G>A (p.Asp1219Asn)
c.3703G>A (p.Asp1235Asn)
c.3763G>A (p.Asp1255Asn)
c.3313G>A (p.Asp1105Asn)
c.1615G>A (p.Asp539Asn)
c.1432G>A (p.Asp478Asn)
c.3664G>A (p.Asp1222Asn)
c.3616G>A (p.Asp1206Asn)
c.3385G>A (p.Asp1129Asn)
c.3286G>A (p.Asp1096Asn)
c.2467G>A (p.Asp823Asn)
n.4018G>A
 gnomAD v4 COSMIC
13g.51937581C>ACA484024340ATP7Bc.*1448G>T (n.*1448G>T)
c.*2542G>T (n.*2542G>T)
c.3177G>T (p.Gly1059=)
c.3798G>T (p.Gly1266=)
c.3465G>T (p.Gly1155=)
c.3546G>T (p.Gly1182=)
n.1039G>T
c.3564G>T (p.Gly1188=)
n.3937G>T
n.664G>T
c.2733G>T (p.Gly911=)
c.2508G>T (p.Gly836=)
c.3603G>T (p.Gly1201=)
c.1576G>T
c.*899G>T (n.*899G>T)
n.4542G>T
n.3143G>T
c.3654G>T (p.Gly1218=)
c.3702G>T (p.Gly1234=)
c.3762G>T (p.Gly1254=)
c.3312G>T (p.Gly1104=)
c.1614G>T (p.Gly538=)
c.1431G>T (p.Gly477=)
c.3663G>T (p.Gly1221=)
c.3615G>T (p.Gly1205=)
c.3384G>T (p.Gly1128=)
c.3285G>T (p.Gly1095=)
c.2466G>T (p.Gly822=)
n.4017G>T
 dbSNP gnomAD v3 gnomAD v4
13g.51937581C=CA2091554057ATP7Bc.*1448G= (n.*1448G=)
c.*2542G= (n.*2542G=)
c.3177G= (p.Gly1059=)
c.3798G= (p.Gly1266=)
c.3465G= (p.Gly1155=)
c.3546G= (p.Gly1182=)
n.1039G=
c.3564G= (p.Gly1188=)
n.3937G=
n.664G=
c.2733G= (p.Gly911=)
c.2508G= (p.Gly836=)
c.3603G= (p.Gly1201=)
c.1576G=
c.*899G= (n.*899G=)
n.4542G=
n.3143G=
c.3654G= (p.Gly1218=)
c.3702G= (p.Gly1234=)
c.3762G= (p.Gly1254=)
c.3312G= (p.Gly1104=)
c.1614G= (p.Gly538=)
c.1431G= (p.Gly477=)
c.3663G= (p.Gly1221=)
c.3615G= (p.Gly1205=)
c.3384G= (p.Gly1128=)
c.3285G= (p.Gly1095=)
c.2466G= (p.Gly822=)
n.4017G=
13g.51937581C>GCA484024341ATP7Bc.*1448G>C (n.*1448G>C)
c.*2542G>C (n.*2542G>C)
c.3177G>C (p.Gly1059=)
c.3798G>C (p.Gly1266=)
c.3465G>C (p.Gly1155=)
c.3546G>C (p.Gly1182=)
n.1039G>C
c.3564G>C (p.Gly1188=)
n.3937G>C
n.664G>C
c.2733G>C (p.Gly911=)
c.2508G>C (p.Gly836=)
c.3603G>C (p.Gly1201=)
c.1576G>C
c.*899G>C (n.*899G>C)
n.4542G>C
n.3143G>C
c.3654G>C (p.Gly1218=)
c.3702G>C (p.Gly1234=)
c.3762G>C (p.Gly1254=)
c.3312G>C (p.Gly1104=)
c.1614G>C (p.Gly538=)
c.1431G>C (p.Gly477=)
c.3663G>C (p.Gly1221=)
c.3615G>C (p.Gly1205=)
c.3384G>C (p.Gly1128=)
c.3285G>C (p.Gly1095=)
c.2466G>C (p.Gly822=)
n.4017G>C
13g.51937581C>TCA250073695ATP7Bc.*1448G>A (n.*1448G>A)
c.*2542G>A (n.*2542G>A)
c.3177G>A (p.Gly1059=)
c.3798G>A (p.Gly1266=)
c.3465G>A (p.Gly1155=)
c.3546G>A (p.Gly1182=)
n.1039G>A
c.3564G>A (p.Gly1188=)
n.3937G>A
n.664G>A
c.2733G>A (p.Gly911=)
c.2508G>A (p.Gly836=)
c.3603G>A (p.Gly1201=)
c.1576G>A
c.*899G>A (n.*899G>A)
n.4542G>A
n.3143G>A
c.3654G>A (p.Gly1218=)
c.3702G>A (p.Gly1234=)
c.3762G>A (p.Gly1254=)
c.3312G>A (p.Gly1104=)
c.1614G>A (p.Gly538=)
c.1431G>A (p.Gly477=)
c.3663G>A (p.Gly1221=)
c.3615G>A (p.Gly1205=)
c.3384G>A (p.Gly1128=)
c.3285G>A (p.Gly1095=)
c.2466G>A (p.Gly822=)
n.4017G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51937582C>ACA388022019ATP7Bc.*1447G>T (n.*1447G>T)
c.*2541G>T (n.*2541G>T)
c.3176G>T (p.Gly1059Val)
c.3797G>T (p.Gly1266Val)
c.3464G>T (p.Gly1155Val)
c.3545G>T (p.Gly1182Val)
n.1038G>T
c.3563G>T (p.Gly1188Val)
n.3936G>T
n.663G>T
c.2732G>T (p.Gly911Val)
c.2507G>T (p.Gly836Val)
c.3602G>T (p.Gly1201Val)
c.1575G>T
c.*898G>T (n.*898G>T)
n.4541G>T
n.3142G>T
c.3653G>T (p.Gly1218Val)
c.3701G>T (p.Gly1234Val)
c.3761G>T (p.Gly1254Val)
c.3311G>T (p.Gly1104Val)
c.1613G>T (p.Gly538Val)
c.1430G>T (p.Gly477Val)
c.3662G>T (p.Gly1221Val)
c.3614G>T (p.Gly1205Val)
c.3383G>T (p.Gly1128Val)
c.3284G>T (p.Gly1095Val)
c.2465G>T (p.Gly822Val)
n.4016G>T
13g.51937582C=CA2091554066ATP7Bc.*1447G= (n.*1447G=)
c.*2541G= (n.*2541G=)
c.3176G= (p.Gly1059=)
c.3797G= (p.Gly1266=)
c.3464G= (p.Gly1155=)
c.3545G= (p.Gly1182=)
n.1038G=
c.3563G= (p.Gly1188=)
n.3936G=
n.663G=
c.2732G= (p.Gly911=)
c.2507G= (p.Gly836=)
c.3602G= (p.Gly1201=)
c.1575G=
c.*898G= (n.*898G=)
n.4541G=
n.3142G=
c.3653G= (p.Gly1218=)
c.3701G= (p.Gly1234=)
c.3761G= (p.Gly1254=)
c.3311G= (p.Gly1104=)
c.1613G= (p.Gly538=)
c.1430G= (p.Gly477=)
c.3662G= (p.Gly1221=)
c.3614G= (p.Gly1205=)
c.3383G= (p.Gly1128=)
c.3284G= (p.Gly1095=)
c.2465G= (p.Gly822=)
n.4016G=
13g.51937582C>GCA388022022ATP7Bc.*1447G>C (n.*1447G>C)
c.*2541G>C (n.*2541G>C)
c.3176G>C (p.Gly1059Ala)
c.3797G>C (p.Gly1266Ala)
c.3464G>C (p.Gly1155Ala)
c.3545G>C (p.Gly1182Ala)
n.1038G>C
c.3563G>C (p.Gly1188Ala)
n.3936G>C
n.663G>C
c.2732G>C (p.Gly911Ala)
c.2507G>C (p.Gly836Ala)
c.3602G>C (p.Gly1201Ala)
c.1575G>C
c.*898G>C (n.*898G>C)
n.4541G>C
n.3142G>C
c.3653G>C (p.Gly1218Ala)
c.3701G>C (p.Gly1234Ala)
c.3761G>C (p.Gly1254Ala)
c.3311G>C (p.Gly1104Ala)
c.1613G>C (p.Gly538Ala)
c.1430G>C (p.Gly477Ala)
c.3662G>C (p.Gly1221Ala)
c.3614G>C (p.Gly1205Ala)
c.3383G>C (p.Gly1128Ala)
c.3284G>C (p.Gly1095Ala)
c.2465G>C (p.Gly822Ala)
n.4016G>C
13g.51937582C>TCA388022024ATP7Bc.*1447G>A (n.*1447G>A)
c.*2541G>A (n.*2541G>A)
c.3176G>A (p.Gly1059Glu)
c.3797G>A (p.Gly1266Glu)
c.3464G>A (p.Gly1155Glu)
c.3545G>A (p.Gly1182Glu)
n.1038G>A
c.3563G>A (p.Gly1188Glu)
n.3936G>A
n.663G>A
c.2732G>A (p.Gly911Glu)
c.2507G>A (p.Gly836Glu)
c.3602G>A (p.Gly1201Glu)
c.1575G>A
c.*898G>A (n.*898G>A)
n.4541G>A
n.3142G>A
c.3653G>A (p.Gly1218Glu)
c.3701G>A (p.Gly1234Glu)
c.3761G>A (p.Gly1254Glu)
c.3311G>A (p.Gly1104Glu)
c.1613G>A (p.Gly538Glu)
c.1430G>A (p.Gly477Glu)
c.3662G>A (p.Gly1221Glu)
c.3614G>A (p.Gly1205Glu)
c.3383G>A (p.Gly1128Glu)
c.3284G>A (p.Gly1095Glu)
c.2465G>A (p.Gly822Glu)
n.4016G>A
 ClinVar dbSNP COSMIC
13g.51937584_51937587dupCA2695218759ATP7Bc.*1444_*1447dup (n.*1444_*1447dup)
c.*2538_*2541dup (n.*2538_*2541dup)
c.3173_3176dup (p.Asp1060GlyfsTer6)
c.3794_3797dup (p.Asp1267GlyfsTer6)
c.3461_3464dup (p.Asp1156GlyfsTer6)
c.3542_3545dup (p.Asp1183GlyfsTer6)
n.1035_1038dup
c.3560_3563dup (p.Asp1189GlyfsTer6)
n.3933_3936dup
n.660_663dup
c.2729_2732dup (p.Asp912GlyfsTer6)
c.2504_2507dup (p.Asp837GlyfsTer6)
c.3599_3602dup (p.Asp1202GlyfsTer6)
c.1572_1575dup
c.*895_*898dup (n.*895_*898dup)
n.4538_4541dup
n.3139_3142dup
c.3650_3653dup (p.Asp1219GlyfsTer6)
c.3698_3701dup (p.Asp1235GlyfsTer6)
c.3758_3761dup (p.Asp1255GlyfsTer6)
c.3308_3311dup (p.Asp1105GlyfsTer6)
c.1610_1613dup (p.Asp539GlyfsTer6)
c.1427_1430dup (p.Asp478GlyfsTer6)
c.3659_3662dup (p.Asp1222GlyfsTer6)
c.3611_3614dup (p.Asp1206GlyfsTer6)
c.3380_3383dup (p.Asp1129GlyfsTer6)
c.3281_3284dup (p.Asp1096GlyfsTer6)
c.2462_2465dup (p.Asp823GlyfsTer6)
n.4013_4016dup
13g.51937583C>ACA388022026ATP7Bc.*1446G>T (n.*1446G>T)
c.*2540G>T (n.*2540G>T)
c.3175G>T (p.Gly1059Trp)
c.3796G>T (p.Gly1266Trp)
c.3463G>T (p.Gly1155Trp)
c.3544G>T (p.Gly1182Trp)
n.1037G>T
c.3562G>T (p.Gly1188Trp)
n.3935G>T
n.662G>T
c.2731G>T (p.Gly911Trp)
c.2506G>T (p.Gly836Trp)
c.3601G>T (p.Gly1201Trp)
c.1574G>T
c.*897G>T (n.*897G>T)
n.4540G>T
n.3141G>T
c.3652G>T (p.Gly1218Trp)
c.3700G>T (p.Gly1234Trp)
c.3760G>T (p.Gly1254Trp)
c.3310G>T (p.Gly1104Trp)
c.1612G>T (p.Gly538Trp)
c.1429G>T (p.Gly477Trp)
c.3661G>T (p.Gly1221Trp)
c.3613G>T (p.Gly1205Trp)
c.3382G>T (p.Gly1128Trp)
c.3283G>T (p.Gly1095Trp)
c.2464G>T (p.Gly822Trp)
n.4015G>T
 dbSNP
13g.51937583C=CA2091554101ATP7Bc.*1446G= (n.*1446G=)
c.*2540G= (n.*2540G=)
c.3175G= (p.Gly1059=)
c.3796G= (p.Gly1266=)
c.3463G= (p.Gly1155=)
c.3544G= (p.Gly1182=)
n.1037G=
c.3562G= (p.Gly1188=)
n.3935G=
n.662G=
c.2731G= (p.Gly911=)
c.2506G= (p.Gly836=)
c.3601G= (p.Gly1201=)
c.1574G=
c.*897G= (n.*897G=)
n.4540G=
n.3141G=
c.3652G= (p.Gly1218=)
c.3700G= (p.Gly1234=)
c.3760G= (p.Gly1254=)
c.3310G= (p.Gly1104=)
c.1612G= (p.Gly538=)
c.1429G= (p.Gly477=)
c.3661G= (p.Gly1221=)
c.3613G= (p.Gly1205=)
c.3382G= (p.Gly1128=)
c.3283G= (p.Gly1095=)
c.2464G= (p.Gly822=)
n.4015G=
13g.51937583C>GCA388022028ATP7Bc.*1446G>C (n.*1446G>C)
c.*2540G>C (n.*2540G>C)
c.3175G>C (p.Gly1059Arg)
c.3796G>C (p.Gly1266Arg)
c.3463G>C (p.Gly1155Arg)
c.3544G>C (p.Gly1182Arg)
n.1037G>C
c.3562G>C (p.Gly1188Arg)
n.3935G>C
n.662G>C
c.2731G>C (p.Gly911Arg)
c.2506G>C (p.Gly836Arg)
c.3601G>C (p.Gly1201Arg)
c.1574G>C
c.*897G>C (n.*897G>C)
n.4540G>C
n.3141G>C
c.3652G>C (p.Gly1218Arg)
c.3700G>C (p.Gly1234Arg)
c.3760G>C (p.Gly1254Arg)
c.3310G>C (p.Gly1104Arg)
c.1612G>C (p.Gly538Arg)
c.1429G>C (p.Gly477Arg)
c.3661G>C (p.Gly1221Arg)
c.3613G>C (p.Gly1205Arg)
c.3382G>C (p.Gly1128Arg)
c.3283G>C (p.Gly1095Arg)
c.2464G>C (p.Gly822Arg)
n.4015G>C
13g.51937583C>TCA252890ATP7Bc.*1446G>A (n.*1446G>A)
c.*2540G>A (n.*2540G>A)
c.3175G>A (p.Gly1059Arg)
c.3796G>A (p.Gly1266Arg)
c.3463G>A (p.Gly1155Arg)
c.3544G>A (p.Gly1182Arg)
n.1037G>A
c.3562G>A (p.Gly1188Arg)
n.3935G>A
n.662G>A
c.2731G>A (p.Gly911Arg)
c.2506G>A (p.Gly836Arg)
c.3601G>A (p.Gly1201Arg)
c.1574G>A
c.*897G>A (n.*897G>A)
n.4540G>A
n.3141G>A
c.3652G>A (p.Gly1218Arg)
c.3700G>A (p.Gly1234Arg)
c.3760G>A (p.Gly1254Arg)
c.3310G>A (p.Gly1104Arg)
c.1612G>A (p.Gly538Arg)
c.1429G>A (p.Gly477Arg)
c.3661G>A (p.Gly1221Arg)
c.3613G>A (p.Gly1205Arg)
c.3382G>A (p.Gly1128Arg)
c.3283G>A (p.Gly1095Arg)
c.2464G>A (p.Gly822Arg)
n.4015G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched