Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51937302T>ACA388020857ATP7Bc.*1645A>T (n.*1645A>T)
c.*2739A>T (n.*2739A>T)
c.3374A>T (p.Asn1125Ile)
c.3995A>T (p.Asn1332Ile)
c.3662A>T (p.Asn1221Ile)
c.3743A>T (p.Asn1248Ile)
n.1318A>T
c.3761A>T (p.Asn1254Ile)
n.4134A>T
n.861A>T
c.2930A>T (p.Asn977Ile)
c.2705A>T (p.Asn902Ile)
c.3800A>T (p.Asn1267Ile)
c.1773A>T
c.*1096A>T (n.*1096A>T)
n.4739A>T
n.3340A>T
c.3851A>T (p.Asn1284Ile)
c.3899A>T (p.Asn1300Ile)
c.3959A>T (p.Asn1320Ile)
c.3509A>T (p.Asn1170Ile)
c.1811A>T (p.Asn604Ile)
c.1628A>T (p.Asn543Ile)
c.3860A>T (p.Asn1287Ile)
c.3812A>T (p.Asn1271Ile)
c.3581A>T (p.Asn1194Ile)
c.3482A>T (p.Asn1161Ile)
c.2663A>T (p.Asn888Ile)
n.4214A>T
13g.51937302T>CCA388020858ATP7Bc.*1645A>G (n.*1645A>G)
c.*2739A>G (n.*2739A>G)
c.3374A>G (p.Asn1125Ser)
c.3995A>G (p.Asn1332Ser)
c.3662A>G (p.Asn1221Ser)
c.3743A>G (p.Asn1248Ser)
n.1318A>G
c.3761A>G (p.Asn1254Ser)
n.4134A>G
n.861A>G
c.2930A>G (p.Asn977Ser)
c.2705A>G (p.Asn902Ser)
c.3800A>G (p.Asn1267Ser)
c.1773A>G
c.*1096A>G (n.*1096A>G)
n.4739A>G
n.3340A>G
c.3851A>G (p.Asn1284Ser)
c.3899A>G (p.Asn1300Ser)
c.3959A>G (p.Asn1320Ser)
c.3509A>G (p.Asn1170Ser)
c.1811A>G (p.Asn604Ser)
c.1628A>G (p.Asn543Ser)
c.3860A>G (p.Asn1287Ser)
c.3812A>G (p.Asn1271Ser)
c.3581A>G (p.Asn1194Ser)
c.3482A>G (p.Asn1161Ser)
c.2663A>G (p.Asn888Ser)
n.4214A>G
13g.51937302T>GCA388020860ATP7Bc.*1645A>C (n.*1645A>C)
c.*2739A>C (n.*2739A>C)
c.3374A>C (p.Asn1125Thr)
c.3995A>C (p.Asn1332Thr)
c.3662A>C (p.Asn1221Thr)
c.3743A>C (p.Asn1248Thr)
n.1318A>C
c.3761A>C (p.Asn1254Thr)
n.4134A>C
n.861A>C
c.2930A>C (p.Asn977Thr)
c.2705A>C (p.Asn902Thr)
c.3800A>C (p.Asn1267Thr)
c.1773A>C
c.*1096A>C (n.*1096A>C)
n.4739A>C
n.3340A>C
c.3851A>C (p.Asn1284Thr)
c.3899A>C (p.Asn1300Thr)
c.3959A>C (p.Asn1320Thr)
c.3509A>C (p.Asn1170Thr)
c.1811A>C (p.Asn604Thr)
c.1628A>C (p.Asn543Thr)
c.3860A>C (p.Asn1287Thr)
c.3812A>C (p.Asn1271Thr)
c.3581A>C (p.Asn1194Thr)
c.3482A>C (p.Asn1161Thr)
c.2663A>C (p.Asn888Thr)
n.4214A>C
13g.51937303T>ACA388020863ATP7Bc.*1644A>T (n.*1644A>T)
c.*2738A>T (n.*2738A>T)
c.3373A>T (p.Asn1125Tyr)
c.3994A>T (p.Asn1332Tyr)
c.3661A>T (p.Asn1221Tyr)
c.3742A>T (p.Asn1248Tyr)
n.1317A>T
c.3760A>T (p.Asn1254Tyr)
n.4133A>T
n.860A>T
c.2929A>T (p.Asn977Tyr)
c.2704A>T (p.Asn902Tyr)
c.3799A>T (p.Asn1267Tyr)
c.1772A>T
c.*1095A>T (n.*1095A>T)
n.4738A>T
n.3339A>T
c.3850A>T (p.Asn1284Tyr)
c.3898A>T (p.Asn1300Tyr)
c.3958A>T (p.Asn1320Tyr)
c.3508A>T (p.Asn1170Tyr)
c.1810A>T (p.Asn604Tyr)
c.1627A>T (p.Asn543Tyr)
c.3859A>T (p.Asn1287Tyr)
c.3811A>T (p.Asn1271Tyr)
c.3580A>T (p.Asn1194Tyr)
c.3481A>T (p.Asn1161Tyr)
c.2662A>T (p.Asn888Tyr)
n.4213A>T
 gnomAD v4
13g.51937303T>CCA388020866ATP7Bc.*1644A>G (n.*1644A>G)
c.*2738A>G (n.*2738A>G)
c.3373A>G (p.Asn1125Asp)
c.3994A>G (p.Asn1332Asp)
c.3661A>G (p.Asn1221Asp)
c.3742A>G (p.Asn1248Asp)
n.1317A>G
c.3760A>G (p.Asn1254Asp)
n.4133A>G
n.860A>G
c.2929A>G (p.Asn977Asp)
c.2704A>G (p.Asn902Asp)
c.3799A>G (p.Asn1267Asp)
c.1772A>G
c.*1095A>G (n.*1095A>G)
n.4738A>G
n.3339A>G
c.3850A>G (p.Asn1284Asp)
c.3898A>G (p.Asn1300Asp)
c.3958A>G (p.Asn1320Asp)
c.3508A>G (p.Asn1170Asp)
c.1810A>G (p.Asn604Asp)
c.1627A>G (p.Asn543Asp)
c.3859A>G (p.Asn1287Asp)
c.3811A>G (p.Asn1271Asp)
c.3580A>G (p.Asn1194Asp)
c.3481A>G (p.Asn1161Asp)
c.2662A>G (p.Asn888Asp)
n.4213A>G
13g.51937303T>GCA388020869ATP7Bc.*1644A>C (n.*1644A>C)
c.*2738A>C (n.*2738A>C)
c.3373A>C (p.Asn1125His)
c.3994A>C (p.Asn1332His)
c.3661A>C (p.Asn1221His)
c.3742A>C (p.Asn1248His)
n.1317A>C
c.3760A>C (p.Asn1254His)
n.4133A>C
n.860A>C
c.2929A>C (p.Asn977His)
c.2704A>C (p.Asn902His)
c.3799A>C (p.Asn1267His)
c.1772A>C
c.*1095A>C (n.*1095A>C)
n.4738A>C
n.3339A>C
c.3850A>C (p.Asn1284His)
c.3898A>C (p.Asn1300His)
c.3958A>C (p.Asn1320His)
c.3508A>C (p.Asn1170His)
c.1810A>C (p.Asn604His)
c.1627A>C (p.Asn543His)
c.3859A>C (p.Asn1287His)
c.3811A>C (p.Asn1271His)
c.3580A>C (p.Asn1194His)
c.3481A>C (p.Asn1161His)
c.2662A>C (p.Asn888His)
n.4213A>C
13g.51937303_51937307delinsTATAACA2091553350ATP7Bc.*1640_*1644delinsTTATA (n.*1640_*1644delinsTTATA)
c.*2734_*2738delinsTTATA (n.*2734_*2738delinsTTATA)
c.3369_3373delinsTTATA (p.Ile1123=)
c.3990_3994delinsTTATA (p.Ile1330=)
c.3657_3661delinsTTATA (p.Ile1219=)
c.3738_3742delinsTTATA (p.Ile1246=)
n.1313_1317delinsTTATA
c.3756_3760delinsTTATA (p.Ile1252=)
n.4129_4133delinsTTATA
n.856_860delinsTTATA
c.2925_2929delinsTTATA (p.Ile975=)
c.2700_2704delinsTTATA (p.Ile900=)
c.3795_3799delinsTTATA (p.Ile1265=)
c.1768_1772delinsTTATA
c.*1091_*1095delinsTTATA (n.*1091_*1095delinsTTATA)
n.4734_4738delinsTTATA
n.3335_3339delinsTTATA
c.3846_3850delinsTTATA (p.Ile1282=)
c.3894_3898delinsTTATA (p.Ile1298=)
c.3954_3958delinsTTATA (p.Ile1318=)
c.3504_3508delinsTTATA (p.Ile1168=)
c.1806_1810delinsTTATA (p.Ile602=)
c.1623_1627delinsTTATA (p.Ile541=)
c.3855_3859delinsTTATA (p.Ile1285=)
c.3807_3811delinsTTATA (p.Ile1269=)
c.3576_3580delinsTTATA (p.Ile1192=)
c.3477_3481delinsTTATA (p.Ile1159=)
c.2658_2662delinsTTATA (p.Ile886=)
n.4209_4213delinsTTATA
13g.51937304A>CCA388020874ATP7Bc.*1643T>G (n.*1643T>G)
c.*2737T>G (n.*2737T>G)
c.3372T>G (p.Tyr1124Ter)
c.3993T>G (p.Tyr1331Ter)
c.3660T>G (p.Tyr1220Ter)
c.3741T>G (p.Tyr1247Ter)
n.1316T>G
c.3759T>G (p.Tyr1253Ter)
n.4132T>G
n.859T>G
c.2928T>G (p.Tyr976Ter)
c.2703T>G (p.Tyr901Ter)
c.3798T>G (p.Tyr1266Ter)
c.1771T>G
c.*1094T>G (n.*1094T>G)
n.4737T>G
n.3338T>G
c.3849T>G (p.Tyr1283Ter)
c.3897T>G (p.Tyr1299Ter)
c.3957T>G (p.Tyr1319Ter)
c.3507T>G (p.Tyr1169Ter)
c.1809T>G (p.Tyr603Ter)
c.1626T>G (p.Tyr542Ter)
c.3858T>G (p.Tyr1286Ter)
c.3810T>G (p.Tyr1270Ter)
c.3579T>G (p.Tyr1193Ter)
c.3480T>G (p.Tyr1160Ter)
c.2661T>G (p.Tyr887Ter)
n.4212T>G
13g.51937304A>GCA483893471ATP7Bc.*1643T>C (n.*1643T>C)
c.*2737T>C (n.*2737T>C)
c.3372T>C (p.Tyr1124=)
c.3993T>C (p.Tyr1331=)
c.3660T>C (p.Tyr1220=)
c.3741T>C (p.Tyr1247=)
n.1316T>C
c.3759T>C (p.Tyr1253=)
n.4132T>C
n.859T>C
c.2928T>C (p.Tyr976=)
c.2703T>C (p.Tyr901=)
c.3798T>C (p.Tyr1266=)
c.1771T>C
c.*1094T>C (n.*1094T>C)
n.4737T>C
n.3338T>C
c.3849T>C (p.Tyr1283=)
c.3897T>C (p.Tyr1299=)
c.3957T>C (p.Tyr1319=)
c.3507T>C (p.Tyr1169=)
c.1809T>C (p.Tyr603=)
c.1626T>C (p.Tyr542=)
c.3858T>C (p.Tyr1286=)
c.3810T>C (p.Tyr1270=)
c.3579T>C (p.Tyr1193=)
c.3480T>C (p.Tyr1160=)
c.2661T>C (p.Tyr887=)
n.4212T>C
13g.51937304A>TCA388020872ATP7Bc.*1643T>A (n.*1643T>A)
c.*2737T>A (n.*2737T>A)
c.3372T>A (p.Tyr1124Ter)
c.3993T>A (p.Tyr1331Ter)
c.3660T>A (p.Tyr1220Ter)
c.3741T>A (p.Tyr1247Ter)
n.1316T>A
c.3759T>A (p.Tyr1253Ter)
n.4132T>A
n.859T>A
c.2928T>A (p.Tyr976Ter)
c.2703T>A (p.Tyr901Ter)
c.3798T>A (p.Tyr1266Ter)
c.1771T>A
c.*1094T>A (n.*1094T>A)
n.4737T>A
n.3338T>A
c.3849T>A (p.Tyr1283Ter)
c.3897T>A (p.Tyr1299Ter)
c.3957T>A (p.Tyr1319Ter)
c.3507T>A (p.Tyr1169Ter)
c.1809T>A (p.Tyr603Ter)
c.1626T>A (p.Tyr542Ter)
c.3858T>A (p.Tyr1286Ter)
c.3810T>A (p.Tyr1270Ter)
c.3579T>A (p.Tyr1193Ter)
c.3480T>A (p.Tyr1160Ter)
c.2661T>A (p.Tyr887Ter)
n.4212T>A
13g.51937306_51937309delCA483893470ATP7Bc.*1640_*1643del (n.*1640_*1643del)
c.*2734_*2737del (n.*2734_*2737del)
c.3369_3372del (p.Tyr1124ThrfsTer?)
c.3990_3993del (p.Tyr1331ThrfsTer?)
c.3657_3660del (p.Tyr1220ThrfsTer?)
c.3738_3741del (p.Tyr1247ThrfsTer?)
n.1313_1316del
c.3756_3759del (p.Tyr1253ThrfsTer?)
n.4129_4132del
n.856_859del
c.2925_2928del (p.Tyr976ThrfsTer?)
c.2700_2703del (p.Tyr901ThrfsTer?)
c.3795_3798del (p.Tyr1266ThrfsTer?)
c.1768_1771del
c.*1091_*1094del (n.*1091_*1094del)
n.4734_4737del
n.3335_3338del
c.3846_3849del (p.Tyr1283ThrfsTer?)
c.3894_3897del (p.Tyr1299ThrfsTer?)
c.3954_3957del (p.Tyr1319ThrfsTer?)
c.3504_3507del (p.Tyr1169ThrfsTer?)
c.1806_1809del (p.Tyr603ThrfsTer?)
c.1623_1626del (p.Tyr542ThrfsTer?)
c.3855_3858del (p.Tyr1286ThrfsTer?)
c.3807_3810del (p.Tyr1270ThrfsTer?)
c.3576_3579del (p.Tyr1193ThrfsTer?)
c.3477_3480del (p.Tyr1160ThrfsTer?)
c.2658_2661del (p.Tyr887ThrfsTer?)
n.4209_4212del
 ClinVar dbSNP gnomAD v4
13g.51937305T>ACA388020877ATP7Bc.*1642A>T (n.*1642A>T)
c.*2736A>T (n.*2736A>T)
c.3371A>T (p.Tyr1124Phe)
c.3992A>T (p.Tyr1331Phe)
c.3659A>T (p.Tyr1220Phe)
c.3740A>T (p.Tyr1247Phe)
n.1315A>T
c.3758A>T (p.Tyr1253Phe)
n.4131A>T
n.858A>T
c.2927A>T (p.Tyr976Phe)
c.2702A>T (p.Tyr901Phe)
c.3797A>T (p.Tyr1266Phe)
c.1770A>T
c.*1093A>T (n.*1093A>T)
n.4736A>T
n.3337A>T
c.3848A>T (p.Tyr1283Phe)
c.3896A>T (p.Tyr1299Phe)
c.3956A>T (p.Tyr1319Phe)
c.3506A>T (p.Tyr1169Phe)
c.1808A>T (p.Tyr603Phe)
c.1625A>T (p.Tyr542Phe)
c.3857A>T (p.Tyr1286Phe)
c.3809A>T (p.Tyr1270Phe)
c.3578A>T (p.Tyr1193Phe)
c.3479A>T (p.Tyr1160Phe)
c.2660A>T (p.Tyr887Phe)
n.4211A>T
13g.51937305T>CCA388020878ATP7Bc.*1642A>G (n.*1642A>G)
c.*2736A>G (n.*2736A>G)
c.3371A>G (p.Tyr1124Cys)
c.3992A>G (p.Tyr1331Cys)
c.3659A>G (p.Tyr1220Cys)
c.3740A>G (p.Tyr1247Cys)
n.1315A>G
c.3758A>G (p.Tyr1253Cys)
n.4131A>G
n.858A>G
c.2927A>G (p.Tyr976Cys)
c.2702A>G (p.Tyr901Cys)
c.3797A>G (p.Tyr1266Cys)
c.1770A>G
c.*1093A>G (n.*1093A>G)
n.4736A>G
n.3337A>G
c.3848A>G (p.Tyr1283Cys)
c.3896A>G (p.Tyr1299Cys)
c.3956A>G (p.Tyr1319Cys)
c.3506A>G (p.Tyr1169Cys)
c.1808A>G (p.Tyr603Cys)
c.1625A>G (p.Tyr542Cys)
c.3857A>G (p.Tyr1286Cys)
c.3809A>G (p.Tyr1270Cys)
c.3578A>G (p.Tyr1193Cys)
c.3479A>G (p.Tyr1160Cys)
c.2660A>G (p.Tyr887Cys)
n.4211A>G
 gnomAD v4
13g.51937305T>GCA388020881ATP7Bc.*1642A>C (n.*1642A>C)
c.*2736A>C (n.*2736A>C)
c.3371A>C (p.Tyr1124Ser)
c.3992A>C (p.Tyr1331Ser)
c.3659A>C (p.Tyr1220Ser)
c.3740A>C (p.Tyr1247Ser)
n.1315A>C
c.3758A>C (p.Tyr1253Ser)
n.4131A>C
n.858A>C
c.2927A>C (p.Tyr976Ser)
c.2702A>C (p.Tyr901Ser)
c.3797A>C (p.Tyr1266Ser)
c.1770A>C
c.*1093A>C (n.*1093A>C)
n.4736A>C
n.3337A>C
c.3848A>C (p.Tyr1283Ser)
c.3896A>C (p.Tyr1299Ser)
c.3956A>C (p.Tyr1319Ser)
c.3506A>C (p.Tyr1169Ser)
c.1808A>C (p.Tyr603Ser)
c.1625A>C (p.Tyr542Ser)
c.3857A>C (p.Tyr1286Ser)
c.3809A>C (p.Tyr1270Ser)
c.3578A>C (p.Tyr1193Ser)
c.3479A>C (p.Tyr1160Ser)
c.2660A>C (p.Tyr887Ser)
n.4211A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51937305T=CA2091553367ATP7Bc.*1642A= (n.*1642A=)
c.*2736A= (n.*2736A=)
c.3371A= (p.Tyr1124=)
c.3992A= (p.Tyr1331=)
c.3659A= (p.Tyr1220=)
c.3740A= (p.Tyr1247=)
n.1315A=
c.3758A= (p.Tyr1253=)
n.4131A=
n.858A=
c.2927A= (p.Tyr976=)
c.2702A= (p.Tyr901=)
c.3797A= (p.Tyr1266=)
c.1770A=
c.*1093A= (n.*1093A=)
n.4736A=
n.3337A=
c.3848A= (p.Tyr1283=)
c.3896A= (p.Tyr1299=)
c.3956A= (p.Tyr1319=)
c.3506A= (p.Tyr1169=)
c.1808A= (p.Tyr603=)
c.1625A= (p.Tyr542=)
c.3857A= (p.Tyr1286=)
c.3809A= (p.Tyr1270=)
c.3578A= (p.Tyr1193=)
c.3479A= (p.Tyr1160=)
c.2660A= (p.Tyr887=)
n.4211A=
13g.51937306A>CCA388020885ATP7Bc.*1641T>G (n.*1641T>G)
c.*2735T>G (n.*2735T>G)
c.3370T>G (p.Tyr1124Asp)
c.3991T>G (p.Tyr1331Asp)
c.3658T>G (p.Tyr1220Asp)
c.3739T>G (p.Tyr1247Asp)
n.1314T>G
c.3757T>G (p.Tyr1253Asp)
n.4130T>G
n.857T>G
c.2926T>G (p.Tyr976Asp)
c.2701T>G (p.Tyr901Asp)
c.3796T>G (p.Tyr1266Asp)
c.1769T>G
c.*1092T>G (n.*1092T>G)
n.4735T>G
n.3336T>G
c.3847T>G (p.Tyr1283Asp)
c.3895T>G (p.Tyr1299Asp)
c.3955T>G (p.Tyr1319Asp)
c.3505T>G (p.Tyr1169Asp)
c.1807T>G (p.Tyr603Asp)
c.1624T>G (p.Tyr542Asp)
c.3856T>G (p.Tyr1286Asp)
c.3808T>G (p.Tyr1270Asp)
c.3577T>G (p.Tyr1193Asp)
c.3478T>G (p.Tyr1160Asp)
c.2659T>G (p.Tyr887Asp)
n.4210T>G
13g.51937306A>GCA388020891ATP7Bc.*1641T>C (n.*1641T>C)
c.*2735T>C (n.*2735T>C)
c.3370T>C (p.Tyr1124His)
c.3991T>C (p.Tyr1331His)
c.3658T>C (p.Tyr1220His)
c.3739T>C (p.Tyr1247His)
n.1314T>C
c.3757T>C (p.Tyr1253His)
n.4130T>C
n.857T>C
c.2926T>C (p.Tyr976His)
c.2701T>C (p.Tyr901His)
c.3796T>C (p.Tyr1266His)
c.1769T>C
c.*1092T>C (n.*1092T>C)
n.4735T>C
n.3336T>C
c.3847T>C (p.Tyr1283His)
c.3895T>C (p.Tyr1299His)
c.3955T>C (p.Tyr1319His)
c.3505T>C (p.Tyr1169His)
c.1807T>C (p.Tyr603His)
c.1624T>C (p.Tyr542His)
c.3856T>C (p.Tyr1286His)
c.3808T>C (p.Tyr1270His)
c.3577T>C (p.Tyr1193His)
c.3478T>C (p.Tyr1160His)
c.2659T>C (p.Tyr887His)
n.4210T>C
13g.51937306A>TCA388020894ATP7Bc.*1641T>A (n.*1641T>A)
c.*2735T>A (n.*2735T>A)
c.3370T>A (p.Tyr1124Asn)
c.3991T>A (p.Tyr1331Asn)
c.3658T>A (p.Tyr1220Asn)
c.3739T>A (p.Tyr1247Asn)
n.1314T>A
c.3757T>A (p.Tyr1253Asn)
n.4130T>A
n.857T>A
c.2926T>A (p.Tyr976Asn)
c.2701T>A (p.Tyr901Asn)
c.3796T>A (p.Tyr1266Asn)
c.1769T>A
c.*1092T>A (n.*1092T>A)
n.4735T>A
n.3336T>A
c.3847T>A (p.Tyr1283Asn)
c.3895T>A (p.Tyr1299Asn)
c.3955T>A (p.Tyr1319Asn)
c.3505T>A (p.Tyr1169Asn)
c.1807T>A (p.Tyr603Asn)
c.1624T>A (p.Tyr542Asn)
c.3856T>A (p.Tyr1286Asn)
c.3808T>A (p.Tyr1270Asn)
c.3577T>A (p.Tyr1193Asn)
c.3478T>A (p.Tyr1160Asn)
c.2659T>A (p.Tyr887Asn)
n.4210T>A
13g.51937307A=CA2091553372ATP7Bc.*1640T= (n.*1640T=)
c.*2734T= (n.*2734T=)
c.3369T= (p.Ile1123=)
c.3990T= (p.Ile1330=)
c.3657T= (p.Ile1219=)
c.3738T= (p.Ile1246=)
n.1313T=
c.3756T= (p.Ile1252=)
n.4129T=
n.856T=
c.2925T= (p.Ile975=)
c.2700T= (p.Ile900=)
c.3795T= (p.Ile1265=)
c.1768T=
c.*1091T= (n.*1091T=)
n.4734T=
n.3335T=
c.3846T= (p.Ile1282=)
c.3894T= (p.Ile1298=)
c.3954T= (p.Ile1318=)
c.3504T= (p.Ile1168=)
c.1806T= (p.Ile602=)
c.1623T= (p.Ile541=)
c.3855T= (p.Ile1285=)
c.3807T= (p.Ile1269=)
c.3576T= (p.Ile1192=)
c.3477T= (p.Ile1159=)
c.2658T= (p.Ile886=)
n.4209T=
13g.51937307A>CCA388020898ATP7Bc.*1640T>G (n.*1640T>G)
c.*2734T>G (n.*2734T>G)
c.3369T>G (p.Ile1123Met)
c.3990T>G (p.Ile1330Met)
c.3657T>G (p.Ile1219Met)
c.3738T>G (p.Ile1246Met)
n.1313T>G
c.3756T>G (p.Ile1252Met)
n.4129T>G
n.856T>G
c.2925T>G (p.Ile975Met)
c.2700T>G (p.Ile900Met)
c.3795T>G (p.Ile1265Met)
c.1768T>G
c.*1091T>G (n.*1091T>G)
n.4734T>G
n.3335T>G
c.3846T>G (p.Ile1282Met)
c.3894T>G (p.Ile1298Met)
c.3954T>G (p.Ile1318Met)
c.3504T>G (p.Ile1168Met)
c.1806T>G (p.Ile602Met)
c.1623T>G (p.Ile541Met)
c.3855T>G (p.Ile1285Met)
c.3807T>G (p.Ile1269Met)
c.3576T>G (p.Ile1192Met)
c.3477T>G (p.Ile1159Met)
c.2658T>G (p.Ile886Met)
n.4209T>G
13g.51937307A>GCA483893473ATP7Bc.*1640T>C (n.*1640T>C)
c.*2734T>C (n.*2734T>C)
c.3369T>C (p.Ile1123=)
c.3990T>C (p.Ile1330=)
c.3657T>C (p.Ile1219=)
c.3738T>C (p.Ile1246=)
n.1313T>C
c.3756T>C (p.Ile1252=)
n.4129T>C
n.856T>C
c.2925T>C (p.Ile975=)
c.2700T>C (p.Ile900=)
c.3795T>C (p.Ile1265=)
c.1768T>C
c.*1091T>C (n.*1091T>C)
n.4734T>C
n.3335T>C
c.3846T>C (p.Ile1282=)
c.3894T>C (p.Ile1298=)
c.3954T>C (p.Ile1318=)
c.3504T>C (p.Ile1168=)
c.1806T>C (p.Ile602=)
c.1623T>C (p.Ile541=)
c.3855T>C (p.Ile1285=)
c.3807T>C (p.Ile1269=)
c.3576T>C (p.Ile1192=)
c.3477T>C (p.Ile1159=)
c.2658T>C (p.Ile886=)
n.4209T>C
 dbSNP gnomAD v4
13g.51937307A>TCA483893472ATP7Bc.*1640T>A (n.*1640T>A)
c.*2734T>A (n.*2734T>A)
c.3369T>A (p.Ile1123=)
c.3990T>A (p.Ile1330=)
c.3657T>A (p.Ile1219=)
c.3738T>A (p.Ile1246=)
n.1313T>A
c.3756T>A (p.Ile1252=)
n.4129T>A
n.856T>A
c.2925T>A (p.Ile975=)
c.2700T>A (p.Ile900=)
c.3795T>A (p.Ile1265=)
c.1768T>A
c.*1091T>A (n.*1091T>A)
n.4734T>A
n.3335T>A
c.3846T>A (p.Ile1282=)
c.3894T>A (p.Ile1298=)
c.3954T>A (p.Ile1318=)
c.3504T>A (p.Ile1168=)
c.1806T>A (p.Ile602=)
c.1623T>A (p.Ile541=)
c.3855T>A (p.Ile1285=)
c.3807T>A (p.Ile1269=)
c.3576T>A (p.Ile1192=)
c.3477T>A (p.Ile1159=)
c.2658T>A (p.Ile886=)
n.4209T>A
13g.51937308A>CCA388020902ATP7Bc.*1639T>G (n.*1639T>G)
c.*2733T>G (n.*2733T>G)
c.3368T>G (p.Ile1123Ser)
c.3989T>G (p.Ile1330Ser)
c.3656T>G (p.Ile1219Ser)
c.3737T>G (p.Ile1246Ser)
n.1312T>G
c.3755T>G (p.Ile1252Ser)
n.4128T>G
n.855T>G
c.2924T>G (p.Ile975Ser)
c.2699T>G (p.Ile900Ser)
c.3794T>G (p.Ile1265Ser)
c.1767T>G
c.*1090T>G (n.*1090T>G)
n.4733T>G
n.3334T>G
c.3845T>G (p.Ile1282Ser)
c.3893T>G (p.Ile1298Ser)
c.3953T>G (p.Ile1318Ser)
c.3503T>G (p.Ile1168Ser)
c.1805T>G (p.Ile602Ser)
c.1622T>G (p.Ile541Ser)
c.3854T>G (p.Ile1285Ser)
c.3806T>G (p.Ile1269Ser)
c.3575T>G (p.Ile1192Ser)
c.3476T>G (p.Ile1159Ser)
c.2657T>G (p.Ile886Ser)
n.4208T>G
13g.51937308A>GCA388020904ATP7Bc.*1639T>C (n.*1639T>C)
c.*2733T>C (n.*2733T>C)
c.3368T>C (p.Ile1123Thr)
c.3989T>C (p.Ile1330Thr)
c.3656T>C (p.Ile1219Thr)
c.3737T>C (p.Ile1246Thr)
n.1312T>C
c.3755T>C (p.Ile1252Thr)
n.4128T>C
n.855T>C
c.2924T>C (p.Ile975Thr)
c.2699T>C (p.Ile900Thr)
c.3794T>C (p.Ile1265Thr)
c.1767T>C
c.*1090T>C (n.*1090T>C)
n.4733T>C
n.3334T>C
c.3845T>C (p.Ile1282Thr)
c.3893T>C (p.Ile1298Thr)
c.3953T>C (p.Ile1318Thr)
c.3503T>C (p.Ile1168Thr)
c.1805T>C (p.Ile602Thr)
c.1622T>C (p.Ile541Thr)
c.3854T>C (p.Ile1285Thr)
c.3806T>C (p.Ile1269Thr)
c.3575T>C (p.Ile1192Thr)
c.3476T>C (p.Ile1159Thr)
c.2657T>C (p.Ile886Thr)
n.4208T>C
13g.51937308A>TCA388020906ATP7Bc.*1639T>A (n.*1639T>A)
c.*2733T>A (n.*2733T>A)
c.3368T>A (p.Ile1123Asn)
c.3989T>A (p.Ile1330Asn)
c.3656T>A (p.Ile1219Asn)
c.3737T>A (p.Ile1246Asn)
n.1312T>A
c.3755T>A (p.Ile1252Asn)
n.4128T>A
n.855T>A
c.2924T>A (p.Ile975Asn)
c.2699T>A (p.Ile900Asn)
c.3794T>A (p.Ile1265Asn)
c.1767T>A
c.*1090T>A (n.*1090T>A)
n.4733T>A
n.3334T>A
c.3845T>A (p.Ile1282Asn)
c.3893T>A (p.Ile1298Asn)
c.3953T>A (p.Ile1318Asn)
c.3503T>A (p.Ile1168Asn)
c.1805T>A (p.Ile602Asn)
c.1622T>A (p.Ile541Asn)
c.3854T>A (p.Ile1285Asn)
c.3806T>A (p.Ile1269Asn)
c.3575T>A (p.Ile1192Asn)
c.3476T>A (p.Ile1159Asn)
c.2657T>A (p.Ile886Asn)
n.4208T>A
13g.51937309T>ACA388020909ATP7Bc.*1638A>T (n.*1638A>T)
c.*2732A>T (n.*2732A>T)
c.3367A>T (p.Ile1123Phe)
c.3988A>T (p.Ile1330Phe)
c.3655A>T (p.Ile1219Phe)
c.3736A>T (p.Ile1246Phe)
n.1311A>T
c.3754A>T (p.Ile1252Phe)
n.4127A>T
n.854A>T
c.2923A>T (p.Ile975Phe)
c.2698A>T (p.Ile900Phe)
c.3793A>T (p.Ile1265Phe)
c.1766A>T
c.*1089A>T (n.*1089A>T)
n.4732A>T
n.3333A>T
c.3844A>T (p.Ile1282Phe)
c.3892A>T (p.Ile1298Phe)
c.3952A>T (p.Ile1318Phe)
c.3502A>T (p.Ile1168Phe)
c.1804A>T (p.Ile602Phe)
c.1621A>T (p.Ile541Phe)
c.3853A>T (p.Ile1285Phe)
c.3805A>T (p.Ile1269Phe)
c.3574A>T (p.Ile1192Phe)
c.3475A>T (p.Ile1159Phe)
c.2656A>T (p.Ile886Phe)
n.4207A>T
13g.51937309T>CCA388020911ATP7Bc.*1638A>G (n.*1638A>G)
c.*2732A>G (n.*2732A>G)
c.3367A>G (p.Ile1123Val)
c.3988A>G (p.Ile1330Val)
c.3655A>G (p.Ile1219Val)
c.3736A>G (p.Ile1246Val)
n.1311A>G
c.3754A>G (p.Ile1252Val)
n.4127A>G
n.854A>G
c.2923A>G (p.Ile975Val)
c.2698A>G (p.Ile900Val)
c.3793A>G (p.Ile1265Val)
c.1766A>G
c.*1089A>G (n.*1089A>G)
n.4732A>G
n.3333A>G
c.3844A>G (p.Ile1282Val)
c.3892A>G (p.Ile1298Val)
c.3952A>G (p.Ile1318Val)
c.3502A>G (p.Ile1168Val)
c.1804A>G (p.Ile602Val)
c.1621A>G (p.Ile541Val)
c.3853A>G (p.Ile1285Val)
c.3805A>G (p.Ile1269Val)
c.3574A>G (p.Ile1192Val)
c.3475A>G (p.Ile1159Val)
c.2656A>G (p.Ile886Val)
n.4207A>G
13g.51937309T>GCA388020913ATP7Bc.*1638A>C (n.*1638A>C)
c.*2732A>C (n.*2732A>C)
c.3367A>C (p.Ile1123Leu)
c.3988A>C (p.Ile1330Leu)
c.3655A>C (p.Ile1219Leu)
c.3736A>C (p.Ile1246Leu)
n.1311A>C
c.3754A>C (p.Ile1252Leu)
n.4127A>C
n.854A>C
c.2923A>C (p.Ile975Leu)
c.2698A>C (p.Ile900Leu)
c.3793A>C (p.Ile1265Leu)
c.1766A>C
c.*1089A>C (n.*1089A>C)
n.4732A>C
n.3333A>C
c.3844A>C (p.Ile1282Leu)
c.3892A>C (p.Ile1298Leu)
c.3952A>C (p.Ile1318Leu)
c.3502A>C (p.Ile1168Leu)
c.1804A>C (p.Ile602Leu)
c.1621A>C (p.Ile541Leu)
c.3853A>C (p.Ile1285Leu)
c.3805A>C (p.Ile1269Leu)
c.3574A>C (p.Ile1192Leu)
c.3475A>C (p.Ile1159Leu)
c.2656A>C (p.Ile886Leu)
n.4207A>C
 COSMIC
13g.51937310C>ACA483893476ATP7Bc.*1637G>T (n.*1637G>T)
c.*2731G>T (n.*2731G>T)
c.3366G>T (p.Leu1122=)
c.3987G>T (p.Leu1329=)
c.3654G>T (p.Leu1218=)
c.3735G>T (p.Leu1245=)
n.1310G>T
c.3753G>T (p.Leu1251=)
n.4126G>T
n.853G>T
c.2922G>T (p.Leu974=)
c.2697G>T (p.Leu899=)
c.3792G>T (p.Leu1264=)
c.1765G>T
c.*1088G>T (n.*1088G>T)
n.4731G>T
n.3332G>T
c.3843G>T (p.Leu1281=)
c.3891G>T (p.Leu1297=)
c.3951G>T (p.Leu1317=)
c.3501G>T (p.Leu1167=)
c.1803G>T (p.Leu601=)
c.1620G>T (p.Leu540=)
c.3852G>T (p.Leu1284=)
c.3804G>T (p.Leu1268=)
c.3573G>T (p.Leu1191=)
c.3474G>T (p.Leu1158=)
c.2655G>T (p.Leu885=)
n.4206G>T
13g.51937310C>GCA483893475ATP7Bc.*1637G>C (n.*1637G>C)
c.*2731G>C (n.*2731G>C)
c.3366G>C (p.Leu1122=)
c.3987G>C (p.Leu1329=)
c.3654G>C (p.Leu1218=)
c.3735G>C (p.Leu1245=)
n.1310G>C
c.3753G>C (p.Leu1251=)
n.4126G>C
n.853G>C
c.2922G>C (p.Leu974=)
c.2697G>C (p.Leu899=)
c.3792G>C (p.Leu1264=)
c.1765G>C
c.*1088G>C (n.*1088G>C)
n.4731G>C
n.3332G>C
c.3843G>C (p.Leu1281=)
c.3891G>C (p.Leu1297=)
c.3951G>C (p.Leu1317=)
c.3501G>C (p.Leu1167=)
c.1803G>C (p.Leu601=)
c.1620G>C (p.Leu540=)
c.3852G>C (p.Leu1284=)
c.3804G>C (p.Leu1268=)
c.3573G>C (p.Leu1191=)
c.3474G>C (p.Leu1158=)
c.2655G>C (p.Leu885=)
n.4206G>C
13g.51937310C>TCA483893474ATP7Bc.*1637G>A (n.*1637G>A)
c.*2731G>A (n.*2731G>A)
c.3366G>A (p.Leu1122=)
c.3987G>A (p.Leu1329=)
c.3654G>A (p.Leu1218=)
c.3735G>A (p.Leu1245=)
n.1310G>A
c.3753G>A (p.Leu1251=)
n.4126G>A
n.853G>A
c.2922G>A (p.Leu974=)
c.2697G>A (p.Leu899=)
c.3792G>A (p.Leu1264=)
c.1765G>A
c.*1088G>A (n.*1088G>A)
n.4731G>A
n.3332G>A
c.3843G>A (p.Leu1281=)
c.3891G>A (p.Leu1297=)
c.3951G>A (p.Leu1317=)
c.3501G>A (p.Leu1167=)
c.1803G>A (p.Leu601=)
c.1620G>A (p.Leu540=)
c.3852G>A (p.Leu1284=)
c.3804G>A (p.Leu1268=)
c.3573G>A (p.Leu1191=)
c.3474G>A (p.Leu1158=)
c.2655G>A (p.Leu885=)
n.4206G>A
13g.51937311A>CCA388020928ATP7Bc.*1636T>G (n.*1636T>G)
c.*2730T>G (n.*2730T>G)
c.3365T>G (p.Leu1122Arg)
c.3986T>G (p.Leu1329Arg)
c.3653T>G (p.Leu1218Arg)
c.3734T>G (p.Leu1245Arg)
n.1309T>G
c.3752T>G (p.Leu1251Arg)
n.4125T>G
n.852T>G
c.2921T>G (p.Leu974Arg)
c.2696T>G (p.Leu899Arg)
c.3791T>G (p.Leu1264Arg)
c.1764T>G
c.*1087T>G (n.*1087T>G)
n.4730T>G
n.3331T>G
c.3842T>G (p.Leu1281Arg)
c.3890T>G (p.Leu1297Arg)
c.3950T>G (p.Leu1317Arg)
c.3500T>G (p.Leu1167Arg)
c.1802T>G (p.Leu601Arg)
c.1619T>G (p.Leu540Arg)
c.3851T>G (p.Leu1284Arg)
c.3803T>G (p.Leu1268Arg)
c.3572T>G (p.Leu1191Arg)
c.3473T>G (p.Leu1158Arg)
c.2654T>G (p.Leu885Arg)
n.4205T>G
13g.51937311A>GCA388020918ATP7Bc.*1636T>C (n.*1636T>C)
c.*2730T>C (n.*2730T>C)
c.3365T>C (p.Leu1122Pro)
c.3986T>C (p.Leu1329Pro)
c.3653T>C (p.Leu1218Pro)
c.3734T>C (p.Leu1245Pro)
n.1309T>C
c.3752T>C (p.Leu1251Pro)
n.4125T>C
n.852T>C
c.2921T>C (p.Leu974Pro)
c.2696T>C (p.Leu899Pro)
c.3791T>C (p.Leu1264Pro)
c.1764T>C
c.*1087T>C (n.*1087T>C)
n.4730T>C
n.3331T>C
c.3842T>C (p.Leu1281Pro)
c.3890T>C (p.Leu1297Pro)
c.3950T>C (p.Leu1317Pro)
c.3500T>C (p.Leu1167Pro)
c.1802T>C (p.Leu601Pro)
c.1619T>C (p.Leu540Pro)
c.3851T>C (p.Leu1284Pro)
c.3803T>C (p.Leu1268Pro)
c.3572T>C (p.Leu1191Pro)
c.3473T>C (p.Leu1158Pro)
c.2654T>C (p.Leu885Pro)
n.4205T>C
13g.51937311A>TCA388020915ATP7Bc.*1636T>A (n.*1636T>A)
c.*2730T>A (n.*2730T>A)
c.3365T>A (p.Leu1122Gln)
c.3986T>A (p.Leu1329Gln)
c.3653T>A (p.Leu1218Gln)
c.3734T>A (p.Leu1245Gln)
n.1309T>A
c.3752T>A (p.Leu1251Gln)
n.4125T>A
n.852T>A
c.2921T>A (p.Leu974Gln)
c.2696T>A (p.Leu899Gln)
c.3791T>A (p.Leu1264Gln)
c.1764T>A
c.*1087T>A (n.*1087T>A)
n.4730T>A
n.3331T>A
c.3842T>A (p.Leu1281Gln)
c.3890T>A (p.Leu1297Gln)
c.3950T>A (p.Leu1317Gln)
c.3500T>A (p.Leu1167Gln)
c.1802T>A (p.Leu601Gln)
c.1619T>A (p.Leu540Gln)
c.3851T>A (p.Leu1284Gln)
c.3803T>A (p.Leu1268Gln)
c.3572T>A (p.Leu1191Gln)
c.3473T>A (p.Leu1158Gln)
c.2654T>A (p.Leu885Gln)
n.4205T>A
13g.51937312G>ACA483893477ATP7Bc.*1635C>T (n.*1635C>T)
c.*2729C>T (n.*2729C>T)
c.3364C>T (p.Leu1122=)
c.3985C>T (p.Leu1329=)
c.3652C>T (p.Leu1218=)
c.3733C>T (p.Leu1245=)
n.1308C>T
c.3751C>T (p.Leu1251=)
n.4124C>T
n.851C>T
c.2920C>T (p.Leu974=)
c.2695C>T (p.Leu899=)
c.3790C>T (p.Leu1264=)
c.1763C>T
c.*1086C>T (n.*1086C>T)
n.4729C>T
n.3330C>T
c.3841C>T (p.Leu1281=)
c.3889C>T (p.Leu1297=)
c.3949C>T (p.Leu1317=)
c.3499C>T (p.Leu1167=)
c.1801C>T (p.Leu601=)
c.1618C>T (p.Leu540=)
c.3850C>T (p.Leu1284=)
c.3802C>T (p.Leu1268=)
c.3571C>T (p.Leu1191=)
c.3472C>T (p.Leu1158=)
c.2653C>T (p.Leu885=)
n.4204C>T
13g.51937312G>CCA388020936ATP7Bc.*1635C>G (n.*1635C>G)
c.*2729C>G (n.*2729C>G)
c.3364C>G (p.Leu1122Val)
c.3985C>G (p.Leu1329Val)
c.3652C>G (p.Leu1218Val)
c.3733C>G (p.Leu1245Val)
n.1308C>G
c.3751C>G (p.Leu1251Val)
n.4124C>G
n.851C>G
c.2920C>G (p.Leu974Val)
c.2695C>G (p.Leu899Val)
c.3790C>G (p.Leu1264Val)
c.1763C>G
c.*1086C>G (n.*1086C>G)
n.4729C>G
n.3330C>G
c.3841C>G (p.Leu1281Val)
c.3889C>G (p.Leu1297Val)
c.3949C>G (p.Leu1317Val)
c.3499C>G (p.Leu1167Val)
c.1801C>G (p.Leu601Val)
c.1618C>G (p.Leu540Val)
c.3850C>G (p.Leu1284Val)
c.3802C>G (p.Leu1268Val)
c.3571C>G (p.Leu1191Val)
c.3472C>G (p.Leu1158Val)
c.2653C>G (p.Leu885Val)
n.4204C>G
13g.51937312G>TCA388020931ATP7Bc.*1635C>A (n.*1635C>A)
c.*2729C>A (n.*2729C>A)
c.3364C>A (p.Leu1122Met)
c.3985C>A (p.Leu1329Met)
c.3652C>A (p.Leu1218Met)
c.3733C>A (p.Leu1245Met)
n.1308C>A
c.3751C>A (p.Leu1251Met)
n.4124C>A
n.851C>A
c.2920C>A (p.Leu974Met)
c.2695C>A (p.Leu899Met)
c.3790C>A (p.Leu1264Met)
c.1763C>A
c.*1086C>A (n.*1086C>A)
n.4729C>A
n.3330C>A
c.3841C>A (p.Leu1281Met)
c.3889C>A (p.Leu1297Met)
c.3949C>A (p.Leu1317Met)
c.3499C>A (p.Leu1167Met)
c.1801C>A (p.Leu601Met)
c.1618C>A (p.Leu540Met)
c.3850C>A (p.Leu1284Met)
c.3802C>A (p.Leu1268Met)
c.3571C>A (p.Leu1191Met)
c.3472C>A (p.Leu1158Met)
c.2653C>A (p.Leu885Met)
n.4204C>A
13g.51937313T>ACA483893478ATP7Bc.*1634A>T (n.*1634A>T)
c.*2728A>T (n.*2728A>T)
c.3363A>T (p.Ala1121=)
c.3984A>T (p.Ala1328=)
c.3651A>T (p.Ala1217=)
c.3732A>T (p.Ala1244=)
n.1307A>T
c.3750A>T (p.Ala1250=)
n.4123A>T
n.850A>T
c.2919A>T (p.Ala973=)
c.2694A>T (p.Ala898=)
c.3789A>T (p.Ala1263=)
c.1762A>T
c.*1085A>T (n.*1085A>T)
n.4728A>T
n.3329A>T
c.3840A>T (p.Ala1280=)
c.3888A>T (p.Ala1296=)
c.3948A>T (p.Ala1316=)
c.3498A>T (p.Ala1166=)
c.1800A>T (p.Ala600=)
c.1617A>T (p.Ala539=)
c.3849A>T (p.Ala1283=)
c.3801A>T (p.Ala1267=)
c.3570A>T (p.Ala1190=)
c.3471A>T (p.Ala1157=)
c.2652A>T (p.Ala884=)
n.4203A>T
13g.51937313T>CCA483893480ATP7Bc.*1634A>G (n.*1634A>G)
c.*2728A>G (n.*2728A>G)
c.3363A>G (p.Ala1121=)
c.3984A>G (p.Ala1328=)
c.3651A>G (p.Ala1217=)
c.3732A>G (p.Ala1244=)
n.1307A>G
c.3750A>G (p.Ala1250=)
n.4123A>G
n.850A>G
c.2919A>G (p.Ala973=)
c.2694A>G (p.Ala898=)
c.3789A>G (p.Ala1263=)
c.1762A>G
c.*1085A>G (n.*1085A>G)
n.4728A>G
n.3329A>G
c.3840A>G (p.Ala1280=)
c.3888A>G (p.Ala1296=)
c.3948A>G (p.Ala1316=)
c.3498A>G (p.Ala1166=)
c.1800A>G (p.Ala600=)
c.1617A>G (p.Ala539=)
c.3849A>G (p.Ala1283=)
c.3801A>G (p.Ala1267=)
c.3570A>G (p.Ala1190=)
c.3471A>G (p.Ala1157=)
c.2652A>G (p.Ala884=)
n.4203A>G
 ClinVar dbSNP gnomAD v4
13g.51937313T>GCA483893479ATP7Bc.*1634A>C (n.*1634A>C)
c.*2728A>C (n.*2728A>C)
c.3363A>C (p.Ala1121=)
c.3984A>C (p.Ala1328=)
c.3651A>C (p.Ala1217=)
c.3732A>C (p.Ala1244=)
n.1307A>C
c.3750A>C (p.Ala1250=)
n.4123A>C
n.850A>C
c.2919A>C (p.Ala973=)
c.2694A>C (p.Ala898=)
c.3789A>C (p.Ala1263=)
c.1762A>C
c.*1085A>C (n.*1085A>C)
n.4728A>C
n.3329A>C
c.3840A>C (p.Ala1280=)
c.3888A>C (p.Ala1296=)
c.3948A>C (p.Ala1316=)
c.3498A>C (p.Ala1166=)
c.1800A>C (p.Ala600=)
c.1617A>C (p.Ala539=)
c.3849A>C (p.Ala1283=)
c.3801A>C (p.Ala1267=)
c.3570A>C (p.Ala1190=)
c.3471A>C (p.Ala1157=)
c.2652A>C (p.Ala884=)
n.4203A>C
13g.51937314G>ACA388020939ATP7Bc.*1633C>T (n.*1633C>T)
c.*2727C>T (n.*2727C>T)
c.3362C>T (p.Ala1121Val)
c.3983C>T (p.Ala1328Val)
c.3650C>T (p.Ala1217Val)
c.3731C>T (p.Ala1244Val)
n.1306C>T
c.3749C>T (p.Ala1250Val)
n.4122C>T
n.849C>T
c.2918C>T (p.Ala973Val)
c.2693C>T (p.Ala898Val)
c.3788C>T (p.Ala1263Val)
c.1761C>T
c.*1084C>T (n.*1084C>T)
n.4727C>T
n.3328C>T
c.3839C>T (p.Ala1280Val)
c.3887C>T (p.Ala1296Val)
c.3947C>T (p.Ala1316Val)
c.3497C>T (p.Ala1166Val)
c.1799C>T (p.Ala600Val)
c.1616C>T (p.Ala539Val)
c.3848C>T (p.Ala1283Val)
c.3800C>T (p.Ala1267Val)
c.3569C>T (p.Ala1190Val)
c.3470C>T (p.Ala1157Val)
c.2651C>T (p.Ala884Val)
n.4202C>T
 dbSNP gnomAD v4
13g.51937314G>CCA388020940ATP7Bc.*1633C>G (n.*1633C>G)
c.*2727C>G (n.*2727C>G)
c.3362C>G (p.Ala1121Gly)
c.3983C>G (p.Ala1328Gly)
c.3650C>G (p.Ala1217Gly)
c.3731C>G (p.Ala1244Gly)
n.1306C>G
c.3749C>G (p.Ala1250Gly)
n.4122C>G
n.849C>G
c.2918C>G (p.Ala973Gly)
c.2693C>G (p.Ala898Gly)
c.3788C>G (p.Ala1263Gly)
c.1761C>G
c.*1084C>G (n.*1084C>G)
n.4727C>G
n.3328C>G
c.3839C>G (p.Ala1280Gly)
c.3887C>G (p.Ala1296Gly)
c.3947C>G (p.Ala1316Gly)
c.3497C>G (p.Ala1166Gly)
c.1799C>G (p.Ala600Gly)
c.1616C>G (p.Ala539Gly)
c.3848C>G (p.Ala1283Gly)
c.3800C>G (p.Ala1267Gly)
c.3569C>G (p.Ala1190Gly)
c.3470C>G (p.Ala1157Gly)
c.2651C>G (p.Ala884Gly)
n.4202C>G
13g.51937314G=CA2091553375ATP7Bc.*1633C= (n.*1633C=)
c.*2727C= (n.*2727C=)
c.3362C= (p.Ala1121=)
c.3983C= (p.Ala1328=)
c.3650C= (p.Ala1217=)
c.3731C= (p.Ala1244=)
n.1306C=
c.3749C= (p.Ala1250=)
n.4122C=
n.849C=
c.2918C= (p.Ala973=)
c.2693C= (p.Ala898=)
c.3788C= (p.Ala1263=)
c.1761C=
c.*1084C= (n.*1084C=)
n.4727C=
n.3328C=
c.3839C= (p.Ala1280=)
c.3887C= (p.Ala1296=)
c.3947C= (p.Ala1316=)
c.3497C= (p.Ala1166=)
c.1799C= (p.Ala600=)
c.1616C= (p.Ala539=)
c.3848C= (p.Ala1283=)
c.3800C= (p.Ala1267=)
c.3569C= (p.Ala1190=)
c.3470C= (p.Ala1157=)
c.2651C= (p.Ala884=)
n.4202C=
13g.51937314G>TCA388020943ATP7Bc.*1633C>A (n.*1633C>A)
c.*2727C>A (n.*2727C>A)
c.3362C>A (p.Ala1121Glu)
c.3983C>A (p.Ala1328Glu)
c.3650C>A (p.Ala1217Glu)
c.3731C>A (p.Ala1244Glu)
n.1306C>A
c.3749C>A (p.Ala1250Glu)
n.4122C>A
n.849C>A
c.2918C>A (p.Ala973Glu)
c.2693C>A (p.Ala898Glu)
c.3788C>A (p.Ala1263Glu)
c.1761C>A
c.*1084C>A (n.*1084C>A)
n.4727C>A
n.3328C>A
c.3839C>A (p.Ala1280Glu)
c.3887C>A (p.Ala1296Glu)
c.3947C>A (p.Ala1316Glu)
c.3497C>A (p.Ala1166Glu)
c.1799C>A (p.Ala600Glu)
c.1616C>A (p.Ala539Glu)
c.3848C>A (p.Ala1283Glu)
c.3800C>A (p.Ala1267Glu)
c.3569C>A (p.Ala1190Glu)
c.3470C>A (p.Ala1157Glu)
c.2651C>A (p.Ala884Glu)
n.4202C>A
13g.51937315C>ACA388020948ATP7Bc.*1632G>T (n.*1632G>T)
c.*2726G>T (n.*2726G>T)
c.3361G>T (p.Ala1121Ser)
c.3982G>T (p.Ala1328Ser)
c.3649G>T (p.Ala1217Ser)
c.3730G>T (p.Ala1244Ser)
n.1305G>T
c.3748G>T (p.Ala1250Ser)
n.4121G>T
n.848G>T
c.2917G>T (p.Ala973Ser)
c.2692G>T (p.Ala898Ser)
c.3787G>T (p.Ala1263Ser)
c.1760G>T
c.*1083G>T (n.*1083G>T)
n.4726G>T
n.3327G>T
c.3838G>T (p.Ala1280Ser)
c.3886G>T (p.Ala1296Ser)
c.3946G>T (p.Ala1316Ser)
c.3496G>T (p.Ala1166Ser)
c.1798G>T (p.Ala600Ser)
c.1615G>T (p.Ala539Ser)
c.3847G>T (p.Ala1283Ser)
c.3799G>T (p.Ala1267Ser)
c.3568G>T (p.Ala1190Ser)
c.3469G>T (p.Ala1157Ser)
c.2650G>T (p.Ala884Ser)
n.4201G>T
13g.51937315C=CA2091553380ATP7Bc.*1632G= (n.*1632G=)
c.*2726G= (n.*2726G=)
c.3361G= (p.Ala1121=)
c.3982G= (p.Ala1328=)
c.3649G= (p.Ala1217=)
c.3730G= (p.Ala1244=)
n.1305G=
c.3748G= (p.Ala1250=)
n.4121G=
n.848G=
c.2917G= (p.Ala973=)
c.2692G= (p.Ala898=)
c.3787G= (p.Ala1263=)
c.1760G=
c.*1083G= (n.*1083G=)
n.4726G=
n.3327G=
c.3838G= (p.Ala1280=)
c.3886G= (p.Ala1296=)
c.3946G= (p.Ala1316=)
c.3496G= (p.Ala1166=)
c.1798G= (p.Ala600=)
c.1615G= (p.Ala539=)
c.3847G= (p.Ala1283=)
c.3799G= (p.Ala1267=)
c.3568G= (p.Ala1190=)
c.3469G= (p.Ala1157=)
c.2650G= (p.Ala884=)
n.4201G=
13g.51937315C>GCA388020949ATP7Bc.*1632G>C (n.*1632G>C)
c.*2726G>C (n.*2726G>C)
c.3361G>C (p.Ala1121Pro)
c.3982G>C (p.Ala1328Pro)
c.3649G>C (p.Ala1217Pro)
c.3730G>C (p.Ala1244Pro)
n.1305G>C
c.3748G>C (p.Ala1250Pro)
n.4121G>C
n.848G>C
c.2917G>C (p.Ala973Pro)
c.2692G>C (p.Ala898Pro)
c.3787G>C (p.Ala1263Pro)
c.1760G>C
c.*1083G>C (n.*1083G>C)
n.4726G>C
n.3327G>C
c.3838G>C (p.Ala1280Pro)
c.3886G>C (p.Ala1296Pro)
c.3946G>C (p.Ala1316Pro)
c.3496G>C (p.Ala1166Pro)
c.1798G>C (p.Ala600Pro)
c.1615G>C (p.Ala539Pro)
c.3847G>C (p.Ala1283Pro)
c.3799G>C (p.Ala1267Pro)
c.3568G>C (p.Ala1190Pro)
c.3469G>C (p.Ala1157Pro)
c.2650G>C (p.Ala884Pro)
n.4201G>C
13g.51937315C>TCA388020952ATP7Bc.*1632G>A (n.*1632G>A)
c.*2726G>A (n.*2726G>A)
c.3361G>A (p.Ala1121Thr)
c.3982G>A (p.Ala1328Thr)
c.3649G>A (p.Ala1217Thr)
c.3730G>A (p.Ala1244Thr)
n.1305G>A
c.3748G>A (p.Ala1250Thr)
n.4121G>A
n.848G>A
c.2917G>A (p.Ala973Thr)
c.2692G>A (p.Ala898Thr)
c.3787G>A (p.Ala1263Thr)
c.1760G>A
c.*1083G>A (n.*1083G>A)
n.4726G>A
n.3327G>A
c.3838G>A (p.Ala1280Thr)
c.3886G>A (p.Ala1296Thr)
c.3946G>A (p.Ala1316Thr)
c.3496G>A (p.Ala1166Thr)
c.1798G>A (p.Ala600Thr)
c.1615G>A (p.Ala539Thr)
c.3847G>A (p.Ala1283Thr)
c.3799G>A (p.Ala1267Thr)
c.3568G>A (p.Ala1190Thr)
c.3469G>A (p.Ala1157Thr)
c.2650G>A (p.Ala884Thr)
n.4201G>A
 ClinVar dbSNP gnomAD v4
13g.51937316C>ACA483893481ATP7Bc.*1631G>T (n.*1631G>T)
c.*2725G>T (n.*2725G>T)
c.3360G>T (p.Leu1120=)
c.3981G>T (p.Leu1327=)
c.3648G>T (p.Leu1216=)
c.3729G>T (p.Leu1243=)
n.1304G>T
c.3747G>T (p.Leu1249=)
n.4120G>T
n.847G>T
c.2916G>T (p.Leu972=)
c.2691G>T (p.Leu897=)
c.3786G>T (p.Leu1262=)
c.1759G>T
c.*1082G>T (n.*1082G>T)
n.4725G>T
n.3326G>T
c.3837G>T (p.Leu1279=)
c.3885G>T (p.Leu1295=)
c.3945G>T (p.Leu1315=)
c.3495G>T (p.Leu1165=)
c.1797G>T (p.Leu599=)
c.1614G>T (p.Leu538=)
c.3846G>T (p.Leu1282=)
c.3798G>T (p.Leu1266=)
c.3567G>T (p.Leu1189=)
c.3468G>T (p.Leu1156=)
c.2649G>T (p.Leu883=)
n.4200G>T
13g.51937316C>GCA483893482ATP7Bc.*1631G>C (n.*1631G>C)
c.*2725G>C (n.*2725G>C)
c.3360G>C (p.Leu1120=)
c.3981G>C (p.Leu1327=)
c.3648G>C (p.Leu1216=)
c.3729G>C (p.Leu1243=)
n.1304G>C
c.3747G>C (p.Leu1249=)
n.4120G>C
n.847G>C
c.2916G>C (p.Leu972=)
c.2691G>C (p.Leu897=)
c.3786G>C (p.Leu1262=)
c.1759G>C
c.*1082G>C (n.*1082G>C)
n.4725G>C
n.3326G>C
c.3837G>C (p.Leu1279=)
c.3885G>C (p.Leu1295=)
c.3945G>C (p.Leu1315=)
c.3495G>C (p.Leu1165=)
c.1797G>C (p.Leu599=)
c.1614G>C (p.Leu538=)
c.3846G>C (p.Leu1282=)
c.3798G>C (p.Leu1266=)
c.3567G>C (p.Leu1189=)
c.3468G>C (p.Leu1156=)
c.2649G>C (p.Leu883=)
n.4200G>C
13g.51937316C>TCA483893483ATP7Bc.*1631G>A (n.*1631G>A)
c.*2725G>A (n.*2725G>A)
c.3360G>A (p.Leu1120=)
c.3981G>A (p.Leu1327=)
c.3648G>A (p.Leu1216=)
c.3729G>A (p.Leu1243=)
n.1304G>A
c.3747G>A (p.Leu1249=)
n.4120G>A
n.847G>A
c.2916G>A (p.Leu972=)
c.2691G>A (p.Leu897=)
c.3786G>A (p.Leu1262=)
c.1759G>A
c.*1082G>A (n.*1082G>A)
n.4725G>A
n.3326G>A
c.3837G>A (p.Leu1279=)
c.3885G>A (p.Leu1295=)
c.3945G>A (p.Leu1315=)
c.3495G>A (p.Leu1165=)
c.1797G>A (p.Leu599=)
c.1614G>A (p.Leu538=)
c.3846G>A (p.Leu1282=)
c.3798G>A (p.Leu1266=)
c.3567G>A (p.Leu1189=)
c.3468G>A (p.Leu1156=)
c.2649G>A (p.Leu883=)
n.4200G>A
13g.51937317A>CCA388020955ATP7Bc.*1630T>G (n.*1630T>G)
c.*2724T>G (n.*2724T>G)
c.3359T>G (p.Leu1120Arg)
c.3980T>G (p.Leu1327Arg)
c.3647T>G (p.Leu1216Arg)
c.3728T>G (p.Leu1243Arg)
n.1303T>G
c.3746T>G (p.Leu1249Arg)
n.4119T>G
n.846T>G
c.2915T>G (p.Leu972Arg)
c.2690T>G (p.Leu897Arg)
c.3785T>G (p.Leu1262Arg)
c.1758T>G
c.*1081T>G (n.*1081T>G)
n.4724T>G
n.3325T>G
c.3836T>G (p.Leu1279Arg)
c.3884T>G (p.Leu1295Arg)
c.3944T>G (p.Leu1315Arg)
c.3494T>G (p.Leu1165Arg)
c.1796T>G (p.Leu599Arg)
c.1613T>G (p.Leu538Arg)
c.3845T>G (p.Leu1282Arg)
c.3797T>G (p.Leu1266Arg)
c.3566T>G (p.Leu1189Arg)
c.3467T>G (p.Leu1156Arg)
c.2648T>G (p.Leu883Arg)
n.4199T>G
13g.51937317A>GCA388020957ATP7Bc.*1630T>C (n.*1630T>C)
c.*2724T>C (n.*2724T>C)
c.3359T>C (p.Leu1120Pro)
c.3980T>C (p.Leu1327Pro)
c.3647T>C (p.Leu1216Pro)
c.3728T>C (p.Leu1243Pro)
n.1303T>C
c.3746T>C (p.Leu1249Pro)
n.4119T>C
n.846T>C
c.2915T>C (p.Leu972Pro)
c.2690T>C (p.Leu897Pro)
c.3785T>C (p.Leu1262Pro)
c.1758T>C
c.*1081T>C (n.*1081T>C)
n.4724T>C
n.3325T>C
c.3836T>C (p.Leu1279Pro)
c.3884T>C (p.Leu1295Pro)
c.3944T>C (p.Leu1315Pro)
c.3494T>C (p.Leu1165Pro)
c.1796T>C (p.Leu599Pro)
c.1613T>C (p.Leu538Pro)
c.3845T>C (p.Leu1282Pro)
c.3797T>C (p.Leu1266Pro)
c.3566T>C (p.Leu1189Pro)
c.3467T>C (p.Leu1156Pro)
c.2648T>C (p.Leu883Pro)
n.4199T>C
 ClinVar dbSNP
13g.51937317A>TCA388020959ATP7Bc.*1630T>A (n.*1630T>A)
c.*2724T>A (n.*2724T>A)
c.3359T>A (p.Leu1120Gln)
c.3980T>A (p.Leu1327Gln)
c.3647T>A (p.Leu1216Gln)
c.3728T>A (p.Leu1243Gln)
n.1303T>A
c.3746T>A (p.Leu1249Gln)
n.4119T>A
n.846T>A
c.2915T>A (p.Leu972Gln)
c.2690T>A (p.Leu897Gln)
c.3785T>A (p.Leu1262Gln)
c.1758T>A
c.*1081T>A (n.*1081T>A)
n.4724T>A
n.3325T>A
c.3836T>A (p.Leu1279Gln)
c.3884T>A (p.Leu1295Gln)
c.3944T>A (p.Leu1315Gln)
c.3494T>A (p.Leu1165Gln)
c.1796T>A (p.Leu599Gln)
c.1613T>A (p.Leu538Gln)
c.3845T>A (p.Leu1282Gln)
c.3797T>A (p.Leu1266Gln)
c.3566T>A (p.Leu1189Gln)
c.3467T>A (p.Leu1156Gln)
c.2648T>A (p.Leu883Gln)
n.4199T>A
13g.51937318G>ACA483893484ATP7Bc.*1629C>T (n.*1629C>T)
c.*2723C>T (n.*2723C>T)
c.3358C>T (p.Leu1120=)
c.3979C>T (p.Leu1327=)
c.3646C>T (p.Leu1216=)
c.3727C>T (p.Leu1243=)
n.1302C>T
c.3745C>T (p.Leu1249=)
n.4118C>T
n.845C>T
c.2914C>T (p.Leu972=)
c.2689C>T (p.Leu897=)
c.3784C>T (p.Leu1262=)
c.1757C>T
c.*1080C>T (n.*1080C>T)
n.4723C>T
n.3324C>T
c.3835C>T (p.Leu1279=)
c.3883C>T (p.Leu1295=)
c.3943C>T (p.Leu1315=)
c.3493C>T (p.Leu1165=)
c.1795C>T (p.Leu599=)
c.1612C>T (p.Leu538=)
c.3844C>T (p.Leu1282=)
c.3796C>T (p.Leu1266=)
c.3565C>T (p.Leu1189=)
c.3466C>T (p.Leu1156=)
c.2647C>T (p.Leu883=)
n.4198C>T
 ClinVar
13g.51937318G>CCA388020964ATP7Bc.*1629C>G (n.*1629C>G)
c.*2723C>G (n.*2723C>G)
c.3358C>G (p.Leu1120Val)
c.3979C>G (p.Leu1327Val)
c.3646C>G (p.Leu1216Val)
c.3727C>G (p.Leu1243Val)
n.1302C>G
c.3745C>G (p.Leu1249Val)
n.4118C>G
n.845C>G
c.2914C>G (p.Leu972Val)
c.2689C>G (p.Leu897Val)
c.3784C>G (p.Leu1262Val)
c.1757C>G
c.*1080C>G (n.*1080C>G)
n.4723C>G
n.3324C>G
c.3835C>G (p.Leu1279Val)
c.3883C>G (p.Leu1295Val)
c.3943C>G (p.Leu1315Val)
c.3493C>G (p.Leu1165Val)
c.1795C>G (p.Leu599Val)
c.1612C>G (p.Leu538Val)
c.3844C>G (p.Leu1282Val)
c.3796C>G (p.Leu1266Val)
c.3565C>G (p.Leu1189Val)
c.3466C>G (p.Leu1156Val)
c.2647C>G (p.Leu883Val)
n.4198C>G
 gnomAD v4
13g.51937318G>TCA388020966ATP7Bc.*1629C>A (n.*1629C>A)
c.*2723C>A (n.*2723C>A)
c.3358C>A (p.Leu1120Met)
c.3979C>A (p.Leu1327Met)
c.3646C>A (p.Leu1216Met)
c.3727C>A (p.Leu1243Met)
n.1302C>A
c.3745C>A (p.Leu1249Met)
n.4118C>A
n.845C>A
c.2914C>A (p.Leu972Met)
c.2689C>A (p.Leu897Met)
c.3784C>A (p.Leu1262Met)
c.1757C>A
c.*1080C>A (n.*1080C>A)
n.4723C>A
n.3324C>A
c.3835C>A (p.Leu1279Met)
c.3883C>A (p.Leu1295Met)
c.3943C>A (p.Leu1315Met)
c.3493C>A (p.Leu1165Met)
c.1795C>A (p.Leu599Met)
c.1612C>A (p.Leu538Met)
c.3844C>A (p.Leu1282Met)
c.3796C>A (p.Leu1266Met)
c.3565C>A (p.Leu1189Met)
c.3466C>A (p.Leu1156Met)
c.2647C>A (p.Leu883Met)
n.4198C>A
13g.51937319G>ACA483893485ATP7Bc.*1628C>T (n.*1628C>T)
c.*2722C>T (n.*2722C>T)
c.3357C>T (p.Val1119=)
c.3978C>T (p.Val1326=)
c.3645C>T (p.Val1215=)
c.3726C>T (p.Val1242=)
n.1301C>T
c.3744C>T (p.Val1248=)
n.4117C>T
n.844C>T
c.2913C>T (p.Val971=)
c.2688C>T (p.Val896=)
c.3783C>T (p.Val1261=)
c.1756C>T
c.*1079C>T (n.*1079C>T)
n.4722C>T
n.3323C>T
c.3834C>T (p.Val1278=)
c.3882C>T (p.Val1294=)
c.3942C>T (p.Val1314=)
c.3492C>T (p.Val1164=)
c.1794C>T (p.Val598=)
c.1611C>T (p.Val537=)
c.3843C>T (p.Val1281=)
c.3795C>T (p.Val1265=)
c.3564C>T (p.Val1188=)
c.3465C>T (p.Val1155=)
c.2646C>T (p.Val882=)
n.4197C>T
 ClinVar dbSNP
13g.51937319G>CCA483893486ATP7Bc.*1628C>G (n.*1628C>G)
c.*2722C>G (n.*2722C>G)
c.3357C>G (p.Val1119=)
c.3978C>G (p.Val1326=)
c.3645C>G (p.Val1215=)
c.3726C>G (p.Val1242=)
n.1301C>G
c.3744C>G (p.Val1248=)
n.4117C>G
n.844C>G
c.2913C>G (p.Val971=)
c.2688C>G (p.Val896=)
c.3783C>G (p.Val1261=)
c.1756C>G
c.*1079C>G (n.*1079C>G)
n.4722C>G
n.3323C>G
c.3834C>G (p.Val1278=)
c.3882C>G (p.Val1294=)
c.3942C>G (p.Val1314=)
c.3492C>G (p.Val1164=)
c.1794C>G (p.Val598=)
c.1611C>G (p.Val537=)
c.3843C>G (p.Val1281=)
c.3795C>G (p.Val1265=)
c.3564C>G (p.Val1188=)
c.3465C>G (p.Val1155=)
c.2646C>G (p.Val882=)
n.4197C>G
13g.51937319G>TCA483893487ATP7Bc.*1628C>A (n.*1628C>A)
c.*2722C>A (n.*2722C>A)
c.3357C>A (p.Val1119=)
c.3978C>A (p.Val1326=)
c.3645C>A (p.Val1215=)
c.3726C>A (p.Val1242=)
n.1301C>A
c.3744C>A (p.Val1248=)
n.4117C>A
n.844C>A
c.2913C>A (p.Val971=)
c.2688C>A (p.Val896=)
c.3783C>A (p.Val1261=)
c.1756C>A
c.*1079C>A (n.*1079C>A)
n.4722C>A
n.3323C>A
c.3834C>A (p.Val1278=)
c.3882C>A (p.Val1294=)
c.3942C>A (p.Val1314=)
c.3492C>A (p.Val1164=)
c.1794C>A (p.Val598=)
c.1611C>A (p.Val537=)
c.3843C>A (p.Val1281=)
c.3795C>A (p.Val1265=)
c.3564C>A (p.Val1188=)
c.3465C>A (p.Val1155=)
c.2646C>A (p.Val882=)
n.4197C>A
13g.51937320A=CA2091553383ATP7Bc.*1627T= (n.*1627T=)
c.*2721T= (n.*2721T=)
c.3356T= (p.Val1119=)
c.3977T= (p.Val1326=)
c.3644T= (p.Val1215=)
c.3725T= (p.Val1242=)
n.1300T=
c.3743T= (p.Val1248=)
n.4116T=
n.843T=
c.2912T= (p.Val971=)
c.2687T= (p.Val896=)
c.3782T= (p.Val1261=)
c.1755T=
c.*1078T= (n.*1078T=)
n.4721T=
n.3322T=
c.3833T= (p.Val1278=)
c.3881T= (p.Val1294=)
c.3941T= (p.Val1314=)
c.3491T= (p.Val1164=)
c.1793T= (p.Val598=)
c.1610T= (p.Val537=)
c.3842T= (p.Val1281=)
c.3794T= (p.Val1265=)
c.3563T= (p.Val1188=)
c.3464T= (p.Val1155=)
c.2645T= (p.Val882=)
n.4196T=
13g.51937320A>CCA388020973ATP7Bc.*1627T>G (n.*1627T>G)
c.*2721T>G (n.*2721T>G)
c.3356T>G (p.Val1119Gly)
c.3977T>G (p.Val1326Gly)
c.3644T>G (p.Val1215Gly)
c.3725T>G (p.Val1242Gly)
n.1300T>G
c.3743T>G (p.Val1248Gly)
n.4116T>G
n.843T>G
c.2912T>G (p.Val971Gly)
c.2687T>G (p.Val896Gly)
c.3782T>G (p.Val1261Gly)
c.1755T>G
c.*1078T>G (n.*1078T>G)
n.4721T>G
n.3322T>G
c.3833T>G (p.Val1278Gly)
c.3881T>G (p.Val1294Gly)
c.3941T>G (p.Val1314Gly)
c.3491T>G (p.Val1164Gly)
c.1793T>G (p.Val598Gly)
c.1610T>G (p.Val537Gly)
c.3842T>G (p.Val1281Gly)
c.3794T>G (p.Val1265Gly)
c.3563T>G (p.Val1188Gly)
c.3464T>G (p.Val1155Gly)
c.2645T>G (p.Val882Gly)
n.4196T>G
 dbSNP
13g.51937320A>GCA388020976ATP7Bc.*1627T>C (n.*1627T>C)
c.*2721T>C (n.*2721T>C)
c.3356T>C (p.Val1119Ala)
c.3977T>C (p.Val1326Ala)
c.3644T>C (p.Val1215Ala)
c.3725T>C (p.Val1242Ala)
n.1300T>C
c.3743T>C (p.Val1248Ala)
n.4116T>C
n.843T>C
c.2912T>C (p.Val971Ala)
c.2687T>C (p.Val896Ala)
c.3782T>C (p.Val1261Ala)
c.1755T>C
c.*1078T>C (n.*1078T>C)
n.4721T>C
n.3322T>C
c.3833T>C (p.Val1278Ala)
c.3881T>C (p.Val1294Ala)
c.3941T>C (p.Val1314Ala)
c.3491T>C (p.Val1164Ala)
c.1793T>C (p.Val598Ala)
c.1610T>C (p.Val537Ala)
c.3842T>C (p.Val1281Ala)
c.3794T>C (p.Val1265Ala)
c.3563T>C (p.Val1188Ala)
c.3464T>C (p.Val1155Ala)
c.2645T>C (p.Val882Ala)
n.4196T>C
13g.51937320A>TCA388020969ATP7Bc.*1627T>A (n.*1627T>A)
c.*2721T>A (n.*2721T>A)
c.3356T>A (p.Val1119Asp)
c.3977T>A (p.Val1326Asp)
c.3644T>A (p.Val1215Asp)
c.3725T>A (p.Val1242Asp)
n.1300T>A
c.3743T>A (p.Val1248Asp)
n.4116T>A
n.843T>A
c.2912T>A (p.Val971Asp)
c.2687T>A (p.Val896Asp)
c.3782T>A (p.Val1261Asp)
c.1755T>A
c.*1078T>A (n.*1078T>A)
n.4721T>A
n.3322T>A
c.3833T>A (p.Val1278Asp)
c.3881T>A (p.Val1294Asp)
c.3941T>A (p.Val1314Asp)
c.3491T>A (p.Val1164Asp)
c.1793T>A (p.Val598Asp)
c.1610T>A (p.Val537Asp)
c.3842T>A (p.Val1281Asp)
c.3794T>A (p.Val1265Asp)
c.3563T>A (p.Val1188Asp)
c.3464T>A (p.Val1155Asp)
c.2645T>A (p.Val882Asp)
n.4196T>A
13g.51937321C>ACA388020980ATP7Bc.*1626G>T (n.*1626G>T)
c.*2720G>T (n.*2720G>T)
c.3355G>T (p.Val1119Phe)
c.3976G>T (p.Val1326Phe)
c.3643G>T (p.Val1215Phe)
c.3724G>T (p.Val1242Phe)
n.1299G>T
c.3742G>T (p.Val1248Phe)
n.4115G>T
n.842G>T
c.2911G>T (p.Val971Phe)
c.2686G>T (p.Val896Phe)
c.3781G>T (p.Val1261Phe)
c.1754G>T
c.*1077G>T (n.*1077G>T)
n.4720G>T
n.3321G>T
c.3832G>T (p.Val1278Phe)
c.3880G>T (p.Val1294Phe)
c.3940G>T (p.Val1314Phe)
c.3490G>T (p.Val1164Phe)
c.1792G>T (p.Val598Phe)
c.1609G>T (p.Val537Phe)
c.3841G>T (p.Val1281Phe)
c.3793G>T (p.Val1265Phe)
c.3562G>T (p.Val1188Phe)
c.3463G>T (p.Val1155Phe)
c.2644G>T (p.Val882Phe)
n.4195G>T
13g.51937321C>GCA388020981ATP7Bc.*1626G>C (n.*1626G>C)
c.*2720G>C (n.*2720G>C)
c.3355G>C (p.Val1119Leu)
c.3976G>C (p.Val1326Leu)
c.3643G>C (p.Val1215Leu)
c.3724G>C (p.Val1242Leu)
n.1299G>C
c.3742G>C (p.Val1248Leu)
n.4115G>C
n.842G>C
c.2911G>C (p.Val971Leu)
c.2686G>C (p.Val896Leu)
c.3781G>C (p.Val1261Leu)
c.1754G>C
c.*1077G>C (n.*1077G>C)
n.4720G>C
n.3321G>C
c.3832G>C (p.Val1278Leu)
c.3880G>C (p.Val1294Leu)
c.3940G>C (p.Val1314Leu)
c.3490G>C (p.Val1164Leu)
c.1792G>C (p.Val598Leu)
c.1609G>C (p.Val537Leu)
c.3841G>C (p.Val1281Leu)
c.3793G>C (p.Val1265Leu)
c.3562G>C (p.Val1188Leu)
c.3463G>C (p.Val1155Leu)
c.2644G>C (p.Val882Leu)
n.4195G>C
13g.51937321C>TCA388020983ATP7Bc.*1626G>A (n.*1626G>A)
c.*2720G>A (n.*2720G>A)
c.3355G>A (p.Val1119Ile)
c.3976G>A (p.Val1326Ile)
c.3643G>A (p.Val1215Ile)
c.3724G>A (p.Val1242Ile)
n.1299G>A
c.3742G>A (p.Val1248Ile)
n.4115G>A
n.842G>A
c.2911G>A (p.Val971Ile)
c.2686G>A (p.Val896Ile)
c.3781G>A (p.Val1261Ile)
c.1754G>A
c.*1077G>A (n.*1077G>A)
n.4720G>A
n.3321G>A
c.3832G>A (p.Val1278Ile)
c.3880G>A (p.Val1294Ile)
c.3940G>A (p.Val1314Ile)
c.3490G>A (p.Val1164Ile)
c.1792G>A (p.Val598Ile)
c.1609G>A (p.Val537Ile)
c.3841G>A (p.Val1281Ile)
c.3793G>A (p.Val1265Ile)
c.3562G>A (p.Val1188Ile)
c.3463G>A (p.Val1155Ile)
c.2644G>A (p.Val882Ile)
n.4195G>A
13g.51937322C>ACA483893488ATP7Bc.*1625G>T (n.*1625G>T)
c.*2719G>T (n.*2719G>T)
c.3354G>T (p.Leu1118=)
c.3975G>T (p.Leu1325=)
c.3642G>T (p.Leu1214=)
c.3723G>T (p.Leu1241=)
n.1298G>T
c.3741G>T (p.Leu1247=)
n.4114G>T
n.841G>T
c.2910G>T (p.Leu970=)
c.2685G>T (p.Leu895=)
c.3780G>T (p.Leu1260=)
c.1753G>T
c.*1076G>T (n.*1076G>T)
n.4719G>T
n.3320G>T
c.3831G>T (p.Leu1277=)
c.3879G>T (p.Leu1293=)
c.3939G>T (p.Leu1313=)
c.3489G>T (p.Leu1163=)
c.1791G>T (p.Leu597=)
c.1608G>T (p.Leu536=)
c.3840G>T (p.Leu1280=)
c.3792G>T (p.Leu1264=)
c.3561G>T (p.Leu1187=)
c.3462G>T (p.Leu1154=)
c.2643G>T (p.Leu881=)
n.4194G>T
13g.51937322C>GCA483893490ATP7Bc.*1625G>C (n.*1625G>C)
c.*2719G>C (n.*2719G>C)
c.3354G>C (p.Leu1118=)
c.3975G>C (p.Leu1325=)
c.3642G>C (p.Leu1214=)
c.3723G>C (p.Leu1241=)
n.1298G>C
c.3741G>C (p.Leu1247=)
n.4114G>C
n.841G>C
c.2910G>C (p.Leu970=)
c.2685G>C (p.Leu895=)
c.3780G>C (p.Leu1260=)
c.1753G>C
c.*1076G>C (n.*1076G>C)
n.4719G>C
n.3320G>C
c.3831G>C (p.Leu1277=)
c.3879G>C (p.Leu1293=)
c.3939G>C (p.Leu1313=)
c.3489G>C (p.Leu1163=)
c.1791G>C (p.Leu597=)
c.1608G>C (p.Leu536=)
c.3840G>C (p.Leu1280=)
c.3792G>C (p.Leu1264=)
c.3561G>C (p.Leu1187=)
c.3462G>C (p.Leu1154=)
c.2643G>C (p.Leu881=)
n.4194G>C
13g.51937322C>TCA483893491ATP7Bc.*1625G>A (n.*1625G>A)
c.*2719G>A (n.*2719G>A)
c.3354G>A (p.Leu1118=)
c.3975G>A (p.Leu1325=)
c.3642G>A (p.Leu1214=)
c.3723G>A (p.Leu1241=)
n.1298G>A
c.3741G>A (p.Leu1247=)
n.4114G>A
n.841G>A
c.2910G>A (p.Leu970=)
c.2685G>A (p.Leu895=)
c.3780G>A (p.Leu1260=)
c.1753G>A
c.*1076G>A (n.*1076G>A)
n.4719G>A
n.3320G>A
c.3831G>A (p.Leu1277=)
c.3879G>A (p.Leu1293=)
c.3939G>A (p.Leu1313=)
c.3489G>A (p.Leu1163=)
c.1791G>A (p.Leu597=)
c.1608G>A (p.Leu536=)
c.3840G>A (p.Leu1280=)
c.3792G>A (p.Leu1264=)
c.3561G>A (p.Leu1187=)
c.3462G>A (p.Leu1154=)
c.2643G>A (p.Leu881=)
n.4194G>A
 ClinVar dbSNP
13g.51937322_51937323delinsCACA2091553385ATP7Bc.*1624_*1625delinsTG (n.*1624_*1625delinsTG)
c.*2718_*2719delinsTG (n.*2718_*2719delinsTG)
c.3353_3354delinsTG (p.Leu1118=)
c.3974_3975delinsTG (p.Leu1325=)
c.3641_3642delinsTG (p.Leu1214=)
c.3722_3723delinsTG (p.Leu1241=)
n.1297_1298delinsTG
c.3740_3741delinsTG (p.Leu1247=)
n.4113_4114delinsTG
n.840_841delinsTG
c.2909_2910delinsTG (p.Leu970=)
c.2684_2685delinsTG (p.Leu895=)
c.3779_3780delinsTG (p.Leu1260=)
c.1752_1753delinsTG
c.*1075_*1076delinsTG (n.*1075_*1076delinsTG)
n.4718_4719delinsTG
n.3319_3320delinsTG
c.3830_3831delinsTG (p.Leu1277=)
c.3878_3879delinsTG (p.Leu1293=)
c.3938_3939delinsTG (p.Leu1313=)
c.3488_3489delinsTG (p.Leu1163=)
c.1790_1791delinsTG (p.Leu597=)
c.1607_1608delinsTG (p.Leu536=)
c.3839_3840delinsTG (p.Leu1280=)
c.3791_3792delinsTG (p.Leu1264=)
c.3560_3561delinsTG (p.Leu1187=)
c.3461_3462delinsTG (p.Leu1154=)
c.2642_2643delinsTG (p.Leu881=)
n.4193_4194delinsTG
13g.51937323delCA916083352ATP7Bc.*1624del (n.*1624del)
c.*2718del (n.*2718del)
c.3353del (p.Leu1118ArgfsTer5)
c.3974del (p.Leu1325ArgfsTer5)
c.3641del (p.Leu1214ArgfsTer5)
c.3722del (p.Leu1241ArgfsTer5)
n.1297del
c.3740del (p.Leu1247ArgfsTer5)
n.4113del
n.840del
c.2909del (p.Leu970ArgfsTer5)
c.2684del (p.Leu895ArgfsTer5)
c.3779del (p.Leu1260ArgfsTer5)
c.1752del
c.*1075del (n.*1075del)
n.4718del
n.3319del
c.3830del (p.Leu1277ArgfsTer5)
c.3878del (p.Leu1293ArgfsTer5)
c.3938del (p.Leu1313ArgfsTer5)
c.3488del (p.Leu1163ArgfsTer5)
c.1790del (p.Leu597ArgfsTer5)
c.1607del (p.Leu536ArgfsTer5)
c.3839del (p.Leu1280ArgfsTer5)
c.3791del (p.Leu1264ArgfsTer5)
c.3560del (p.Leu1187ArgfsTer5)
c.3461del (p.Leu1154ArgfsTer5)
c.2642del (p.Leu881ArgfsTer5)
n.4193del
 ClinVar dbSNP gnomAD v4
13g.51937323A>CCA388020986ATP7Bc.*1624T>G (n.*1624T>G)
c.*2718T>G (n.*2718T>G)
c.3353T>G (p.Leu1118Arg)
c.3974T>G (p.Leu1325Arg)
c.3641T>G (p.Leu1214Arg)
c.3722T>G (p.Leu1241Arg)
n.1297T>G
c.3740T>G (p.Leu1247Arg)
n.4113T>G
n.840T>G
c.2909T>G (p.Leu970Arg)
c.2684T>G (p.Leu895Arg)
c.3779T>G (p.Leu1260Arg)
c.1752T>G
c.*1075T>G (n.*1075T>G)
n.4718T>G
n.3319T>G
c.3830T>G (p.Leu1277Arg)
c.3878T>G (p.Leu1293Arg)
c.3938T>G (p.Leu1313Arg)
c.3488T>G (p.Leu1163Arg)
c.1790T>G (p.Leu597Arg)
c.1607T>G (p.Leu536Arg)
c.3839T>G (p.Leu1280Arg)
c.3791T>G (p.Leu1264Arg)
c.3560T>G (p.Leu1187Arg)
c.3461T>G (p.Leu1154Arg)
c.2642T>G (p.Leu881Arg)
n.4193T>G
13g.51937323A>GCA388020987ATP7Bc.*1624T>C (n.*1624T>C)
c.*2718T>C (n.*2718T>C)
c.3353T>C (p.Leu1118Pro)
c.3974T>C (p.Leu1325Pro)
c.3641T>C (p.Leu1214Pro)
c.3722T>C (p.Leu1241Pro)
n.1297T>C
c.3740T>C (p.Leu1247Pro)
n.4113T>C
n.840T>C
c.2909T>C (p.Leu970Pro)
c.2684T>C (p.Leu895Pro)
c.3779T>C (p.Leu1260Pro)
c.1752T>C
c.*1075T>C (n.*1075T>C)
n.4718T>C
n.3319T>C
c.3830T>C (p.Leu1277Pro)
c.3878T>C (p.Leu1293Pro)
c.3938T>C (p.Leu1313Pro)
c.3488T>C (p.Leu1163Pro)
c.1790T>C (p.Leu597Pro)
c.1607T>C (p.Leu536Pro)
c.3839T>C (p.Leu1280Pro)
c.3791T>C (p.Leu1264Pro)
c.3560T>C (p.Leu1187Pro)
c.3461T>C (p.Leu1154Pro)
c.2642T>C (p.Leu881Pro)
n.4193T>C
13g.51937323A>TCA388020988ATP7Bc.*1624T>A (n.*1624T>A)
c.*2718T>A (n.*2718T>A)
c.3353T>A (p.Leu1118Gln)
c.3974T>A (p.Leu1325Gln)
c.3641T>A (p.Leu1214Gln)
c.3722T>A (p.Leu1241Gln)
n.1297T>A
c.3740T>A (p.Leu1247Gln)
n.4113T>A
n.840T>A
c.2909T>A (p.Leu970Gln)
c.2684T>A (p.Leu895Gln)
c.3779T>A (p.Leu1260Gln)
c.1752T>A
c.*1075T>A (n.*1075T>A)
n.4718T>A
n.3319T>A
c.3830T>A (p.Leu1277Gln)
c.3878T>A (p.Leu1293Gln)
c.3938T>A (p.Leu1313Gln)
c.3488T>A (p.Leu1163Gln)
c.1790T>A (p.Leu597Gln)
c.1607T>A (p.Leu536Gln)
c.3839T>A (p.Leu1280Gln)
c.3791T>A (p.Leu1264Gln)
c.3560T>A (p.Leu1187Gln)
c.3461T>A (p.Leu1154Gln)
c.2642T>A (p.Leu881Gln)
n.4193T>A
13g.51937324G>ACA250073343ATP7Bc.*1623C>T (n.*1623C>T)
c.*2717C>T (n.*2717C>T)
c.3352C>T (p.Leu1118=)
c.3973C>T (p.Leu1325=)
c.3640C>T (p.Leu1214=)
c.3721C>T (p.Leu1241=)
n.1296C>T
c.3739C>T (p.Leu1247=)
n.4112C>T
n.839C>T
c.2908C>T (p.Leu970=)
c.2683C>T (p.Leu895=)
c.3778C>T (p.Leu1260=)
c.1751C>T
c.*1074C>T (n.*1074C>T)
n.4717C>T
n.3318C>T
c.3829C>T (p.Leu1277=)
c.3877C>T (p.Leu1293=)
c.3937C>T (p.Leu1313=)
c.3487C>T (p.Leu1163=)
c.1789C>T (p.Leu597=)
c.1606C>T (p.Leu536=)
c.3838C>T (p.Leu1280=)
c.3790C>T (p.Leu1264=)
c.3559C>T (p.Leu1187=)
c.3460C>T (p.Leu1154=)
c.2641C>T (p.Leu881=)
n.4192C>T
 dbSNP
13g.51937324G>CCA388020990ATP7Bc.*1623C>G (n.*1623C>G)
c.*2717C>G (n.*2717C>G)
c.3352C>G (p.Leu1118Val)
c.3973C>G (p.Leu1325Val)
c.3640C>G (p.Leu1214Val)
c.3721C>G (p.Leu1241Val)
n.1296C>G
c.3739C>G (p.Leu1247Val)
n.4112C>G
n.839C>G
c.2908C>G (p.Leu970Val)
c.2683C>G (p.Leu895Val)
c.3778C>G (p.Leu1260Val)
c.1751C>G
c.*1074C>G (n.*1074C>G)
n.4717C>G
n.3318C>G
c.3829C>G (p.Leu1277Val)
c.3877C>G (p.Leu1293Val)
c.3937C>G (p.Leu1313Val)
c.3487C>G (p.Leu1163Val)
c.1789C>G (p.Leu597Val)
c.1606C>G (p.Leu536Val)
c.3838C>G (p.Leu1280Val)
c.3790C>G (p.Leu1264Val)
c.3559C>G (p.Leu1187Val)
c.3460C>G (p.Leu1154Val)
c.2641C>G (p.Leu881Val)
n.4192C>G
 dbSNP gnomAD v2 gnomAD v4
13g.51937324G=CA2091553398ATP7Bc.*1623C= (n.*1623C=)
c.*2717C= (n.*2717C=)
c.3352C= (p.Leu1118=)
c.3973C= (p.Leu1325=)
c.3640C= (p.Leu1214=)
c.3721C= (p.Leu1241=)
n.1296C=
c.3739C= (p.Leu1247=)
n.4112C=
n.839C=
c.2908C= (p.Leu970=)
c.2683C= (p.Leu895=)
c.3778C= (p.Leu1260=)
c.1751C=
c.*1074C= (n.*1074C=)
n.4717C=
n.3318C=
c.3829C= (p.Leu1277=)
c.3877C= (p.Leu1293=)
c.3937C= (p.Leu1313=)
c.3487C= (p.Leu1163=)
c.1789C= (p.Leu597=)
c.1606C= (p.Leu536=)
c.3838C= (p.Leu1280=)
c.3790C= (p.Leu1264=)
c.3559C= (p.Leu1187=)
c.3460C= (p.Leu1154=)
c.2641C= (p.Leu881=)
n.4192C=
13g.51937324G>TCA388020989ATP7Bc.*1623C>A (n.*1623C>A)
c.*2717C>A (n.*2717C>A)
c.3352C>A (p.Leu1118Met)
c.3973C>A (p.Leu1325Met)
c.3640C>A (p.Leu1214Met)
c.3721C>A (p.Leu1241Met)
n.1296C>A
c.3739C>A (p.Leu1247Met)
n.4112C>A
n.839C>A
c.2908C>A (p.Leu970Met)
c.2683C>A (p.Leu895Met)
c.3778C>A (p.Leu1260Met)
c.1751C>A
c.*1074C>A (n.*1074C>A)
n.4717C>A
n.3318C>A
c.3829C>A (p.Leu1277Met)
c.3877C>A (p.Leu1293Met)
c.3937C>A (p.Leu1313Met)
c.3487C>A (p.Leu1163Met)
c.1789C>A (p.Leu597Met)
c.1606C>A (p.Leu536Met)
c.3838C>A (p.Leu1280Met)
c.3790C>A (p.Leu1264Met)
c.3559C>A (p.Leu1187Met)
c.3460C>A (p.Leu1154Met)
c.2641C>A (p.Leu881Met)
n.4192C>A
13g.51937325dupCA2695218733ATP7Bc.*1623dup (n.*1623dup)
c.*2717dup (n.*2717dup)
c.3352dup (p.Leu1118ProfsTer8)
c.3973dup (p.Leu1325ProfsTer8)
c.3640dup (p.Leu1214ProfsTer8)
c.3721dup (p.Leu1241ProfsTer8)
n.1296dup
c.3739dup (p.Leu1247ProfsTer8)
n.4112dup
n.839dup
c.2908dup (p.Leu970ProfsTer8)
c.2683dup (p.Leu895ProfsTer8)
c.3778dup (p.Leu1260ProfsTer8)
c.1751dup
c.*1074dup (n.*1074dup)
n.4717dup
n.3318dup
c.3829dup (p.Leu1277ProfsTer8)
c.3877dup (p.Leu1293ProfsTer8)
c.3937dup (p.Leu1313ProfsTer8)
c.3487dup (p.Leu1163ProfsTer8)
c.1789dup (p.Leu597ProfsTer8)
c.1606dup (p.Leu536ProfsTer8)
c.3838dup (p.Leu1280ProfsTer8)
c.3790dup (p.Leu1264ProfsTer8)
c.3559dup (p.Leu1187ProfsTer8)
c.3460dup (p.Leu1154ProfsTer8)
c.2641dup (p.Leu881ProfsTer8)
n.4192dup
13g.51937325delCA2695218732ATP7Bc.*1623del (n.*1623del)
c.*2717del (n.*2717del)
c.3352del (p.Leu1118TrpfsTer5)
c.3973del (p.Leu1325TrpfsTer5)
c.3640del (p.Leu1214TrpfsTer5)
c.3721del (p.Leu1241TrpfsTer5)
n.1296del
c.3739del (p.Leu1247TrpfsTer5)
n.4112del
n.839del
c.2908del (p.Leu970TrpfsTer5)
c.2683del (p.Leu895TrpfsTer5)
c.3778del (p.Leu1260TrpfsTer5)
c.1751del
c.*1074del (n.*1074del)
n.4717del
n.3318del
c.3829del (p.Leu1277TrpfsTer5)
c.3877del (p.Leu1293TrpfsTer5)
c.3937del (p.Leu1313TrpfsTer5)
c.3487del (p.Leu1163TrpfsTer5)
c.1789del (p.Leu597TrpfsTer5)
c.1606del (p.Leu536TrpfsTer5)
c.3838del (p.Leu1280TrpfsTer5)
c.3790del (p.Leu1264TrpfsTer5)
c.3559del (p.Leu1187TrpfsTer5)
c.3460del (p.Leu1154TrpfsTer5)
c.2641del (p.Leu881TrpfsTer5)
n.4192del
13g.51937325G>ACA483893492ATP7Bc.*1622C>T (n.*1622C>T)
c.*2716C>T (n.*2716C>T)
c.3351C>T (p.Asn1117=)
c.3972C>T (p.Asn1324=)
c.3639C>T (p.Asn1213=)
c.3720C>T (p.Asn1240=)
n.1295C>T
c.3738C>T (p.Asn1246=)
n.4111C>T
n.838C>T
c.2907C>T (p.Asn969=)
c.2682C>T (p.Asn894=)
c.3777C>T (p.Asn1259=)
c.1750C>T
c.*1073C>T (n.*1073C>T)
n.4716C>T
n.3317C>T
c.3828C>T (p.Asn1276=)
c.3876C>T (p.Asn1292=)
c.3936C>T (p.Asn1312=)
c.3486C>T (p.Asn1162=)
c.1788C>T (p.Asn596=)
c.1605C>T (p.Asn535=)
c.3837C>T (p.Asn1279=)
c.3789C>T (p.Asn1263=)
c.3558C>T (p.Asn1186=)
c.3459C>T (p.Asn1153=)
c.2640C>T (p.Asn880=)
n.4191C>T
13g.51937325G>CCA388020993ATP7Bc.*1622C>G (n.*1622C>G)
c.*2716C>G (n.*2716C>G)
c.3351C>G (p.Asn1117Lys)
c.3972C>G (p.Asn1324Lys)
c.3639C>G (p.Asn1213Lys)
c.3720C>G (p.Asn1240Lys)
n.1295C>G
c.3738C>G (p.Asn1246Lys)
n.4111C>G
n.838C>G
c.2907C>G (p.Asn969Lys)
c.2682C>G (p.Asn894Lys)
c.3777C>G (p.Asn1259Lys)
c.1750C>G
c.*1073C>G (n.*1073C>G)
n.4716C>G
n.3317C>G
c.3828C>G (p.Asn1276Lys)
c.3876C>G (p.Asn1292Lys)
c.3936C>G (p.Asn1312Lys)
c.3486C>G (p.Asn1162Lys)
c.1788C>G (p.Asn596Lys)
c.1605C>G (p.Asn535Lys)
c.3837C>G (p.Asn1279Lys)
c.3789C>G (p.Asn1263Lys)
c.3558C>G (p.Asn1186Lys)
c.3459C>G (p.Asn1153Lys)
c.2640C>G (p.Asn880Lys)
n.4191C>G
13g.51937325G>TCA388020995ATP7Bc.*1622C>A (n.*1622C>A)
c.*2716C>A (n.*2716C>A)
c.3351C>A (p.Asn1117Lys)
c.3972C>A (p.Asn1324Lys)
c.3639C>A (p.Asn1213Lys)
c.3720C>A (p.Asn1240Lys)
n.1295C>A
c.3738C>A (p.Asn1246Lys)
n.4111C>A
n.838C>A
c.2907C>A (p.Asn969Lys)
c.2682C>A (p.Asn894Lys)
c.3777C>A (p.Asn1259Lys)
c.1750C>A
c.*1073C>A (n.*1073C>A)
n.4716C>A
n.3317C>A
c.3828C>A (p.Asn1276Lys)
c.3876C>A (p.Asn1292Lys)
c.3936C>A (p.Asn1312Lys)
c.3486C>A (p.Asn1162Lys)
c.1788C>A (p.Asn596Lys)
c.1605C>A (p.Asn535Lys)
c.3837C>A (p.Asn1279Lys)
c.3789C>A (p.Asn1263Lys)
c.3558C>A (p.Asn1186Lys)
c.3459C>A (p.Asn1153Lys)
c.2640C>A (p.Asn880Lys)
n.4191C>A
13g.51937326T>ACA388020998ATP7Bc.*1621A>T (n.*1621A>T)
c.*2715A>T (n.*2715A>T)
c.3350A>T (p.Asn1117Ile)
c.3971A>T (p.Asn1324Ile)
c.3638A>T (p.Asn1213Ile)
c.3719A>T (p.Asn1240Ile)
n.1294A>T
c.3737A>T (p.Asn1246Ile)
n.4110A>T
n.837A>T
c.2906A>T (p.Asn969Ile)
c.2681A>T (p.Asn894Ile)
c.3776A>T (p.Asn1259Ile)
c.1749A>T
c.*1072A>T (n.*1072A>T)
n.4715A>T
n.3316A>T
c.3827A>T (p.Asn1276Ile)
c.3875A>T (p.Asn1292Ile)
c.3935A>T (p.Asn1312Ile)
c.3485A>T (p.Asn1162Ile)
c.1787A>T (p.Asn596Ile)
c.1604A>T (p.Asn535Ile)
c.3836A>T (p.Asn1279Ile)
c.3788A>T (p.Asn1263Ile)
c.3557A>T (p.Asn1186Ile)
c.3458A>T (p.Asn1153Ile)
c.2639A>T (p.Asn880Ile)
n.4190A>T
 dbSNP
13g.51937326T>CCA6988522ATP7Bc.*1621A>G (n.*1621A>G)
c.*2715A>G (n.*2715A>G)
c.3350A>G (p.Asn1117Ser)
c.3971A>G (p.Asn1324Ser)
c.3638A>G (p.Asn1213Ser)
c.3719A>G (p.Asn1240Ser)
n.1294A>G
c.3737A>G (p.Asn1246Ser)
n.4110A>G
n.837A>G
c.2906A>G (p.Asn969Ser)
c.2681A>G (p.Asn894Ser)
c.3776A>G (p.Asn1259Ser)
c.1749A>G
c.*1072A>G (n.*1072A>G)
n.4715A>G
n.3316A>G
c.3827A>G (p.Asn1276Ser)
c.3875A>G (p.Asn1292Ser)
c.3935A>G (p.Asn1312Ser)
c.3485A>G (p.Asn1162Ser)
c.1787A>G (p.Asn596Ser)
c.1604A>G (p.Asn535Ser)
c.3836A>G (p.Asn1279Ser)
c.3788A>G (p.Asn1263Ser)
c.3557A>G (p.Asn1186Ser)
c.3458A>G (p.Asn1153Ser)
c.2639A>G (p.Asn880Ser)
n.4190A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51937326T>GCA388021001ATP7Bc.*1621A>C (n.*1621A>C)
c.*2715A>C (n.*2715A>C)
c.3350A>C (p.Asn1117Thr)
c.3971A>C (p.Asn1324Thr)
c.3638A>C (p.Asn1213Thr)
c.3719A>C (p.Asn1240Thr)
n.1294A>C
c.3737A>C (p.Asn1246Thr)
n.4110A>C
n.837A>C
c.2906A>C (p.Asn969Thr)
c.2681A>C (p.Asn894Thr)
c.3776A>C (p.Asn1259Thr)
c.1749A>C
c.*1072A>C (n.*1072A>C)
n.4715A>C
n.3316A>C
c.3827A>C (p.Asn1276Thr)
c.3875A>C (p.Asn1292Thr)
c.3935A>C (p.Asn1312Thr)
c.3485A>C (p.Asn1162Thr)
c.1787A>C (p.Asn596Thr)
c.1604A>C (p.Asn535Thr)
c.3836A>C (p.Asn1279Thr)
c.3788A>C (p.Asn1263Thr)
c.3557A>C (p.Asn1186Thr)
c.3458A>C (p.Asn1153Thr)
c.2639A>C (p.Asn880Thr)
n.4190A>C
 ClinVar dbSNP
13g.51937326T=CA2091553406ATP7Bc.*1621A= (n.*1621A=)
c.*2715A= (n.*2715A=)
c.3350A= (p.Asn1117=)
c.3971A= (p.Asn1324=)
c.3638A= (p.Asn1213=)
c.3719A= (p.Asn1240=)
n.1294A=
c.3737A= (p.Asn1246=)
n.4110A=
n.837A=
c.2906A= (p.Asn969=)
c.2681A= (p.Asn894=)
c.3776A= (p.Asn1259=)
c.1749A=
c.*1072A= (n.*1072A=)
n.4715A=
n.3316A=
c.3827A= (p.Asn1276=)
c.3875A= (p.Asn1292=)
c.3935A= (p.Asn1312=)
c.3485A= (p.Asn1162=)
c.1787A= (p.Asn596=)
c.1604A= (p.Asn535=)
c.3836A= (p.Asn1279=)
c.3788A= (p.Asn1263=)
c.3557A= (p.Asn1186=)
c.3458A= (p.Asn1153=)
c.2639A= (p.Asn880=)
n.4190A=
13g.51937327T>ACA388021006ATP7Bc.*1620A>T (n.*1620A>T)
c.*2714A>T (n.*2714A>T)
c.3349A>T (p.Asn1117Tyr)
c.3970A>T (p.Asn1324Tyr)
c.3637A>T (p.Asn1213Tyr)
c.3718A>T (p.Asn1240Tyr)
n.1293A>T
c.3736A>T (p.Asn1246Tyr)
n.4109A>T
n.836A>T
c.2905A>T (p.Asn969Tyr)
c.2680A>T (p.Asn894Tyr)
c.3775A>T (p.Asn1259Tyr)
c.1748A>T
c.*1071A>T (n.*1071A>T)
n.4714A>T
n.3315A>T
c.3826A>T (p.Asn1276Tyr)
c.3874A>T (p.Asn1292Tyr)
c.3934A>T (p.Asn1312Tyr)
c.3484A>T (p.Asn1162Tyr)
c.1786A>T (p.Asn596Tyr)
c.1603A>T (p.Asn535Tyr)
c.3835A>T (p.Asn1279Tyr)
c.3787A>T (p.Asn1263Tyr)
c.3556A>T (p.Asn1186Tyr)
c.3457A>T (p.Asn1153Tyr)
c.2638A>T (p.Asn880Tyr)
n.4189A>T
13g.51937327T>CCA388021008ATP7Bc.*1620A>G (n.*1620A>G)
c.*2714A>G (n.*2714A>G)
c.3349A>G (p.Asn1117Asp)
c.3970A>G (p.Asn1324Asp)
c.3637A>G (p.Asn1213Asp)
c.3718A>G (p.Asn1240Asp)
n.1293A>G
c.3736A>G (p.Asn1246Asp)
n.4109A>G
n.836A>G
c.2905A>G (p.Asn969Asp)
c.2680A>G (p.Asn894Asp)
c.3775A>G (p.Asn1259Asp)
c.1748A>G
c.*1071A>G (n.*1071A>G)
n.4714A>G
n.3315A>G
c.3826A>G (p.Asn1276Asp)
c.3874A>G (p.Asn1292Asp)
c.3934A>G (p.Asn1312Asp)
c.3484A>G (p.Asn1162Asp)
c.1786A>G (p.Asn596Asp)
c.1603A>G (p.Asn535Asp)
c.3835A>G (p.Asn1279Asp)
c.3787A>G (p.Asn1263Asp)
c.3556A>G (p.Asn1186Asp)
c.3457A>G (p.Asn1153Asp)
c.2638A>G (p.Asn880Asp)
n.4189A>G
13g.51937327T>GCA388021004ATP7Bc.*1620A>C (n.*1620A>C)
c.*2714A>C (n.*2714A>C)
c.3349A>C (p.Asn1117His)
c.3970A>C (p.Asn1324His)
c.3637A>C (p.Asn1213His)
c.3718A>C (p.Asn1240His)
n.1293A>C
c.3736A>C (p.Asn1246His)
n.4109A>C
n.836A>C
c.2905A>C (p.Asn969His)
c.2680A>C (p.Asn894His)
c.3775A>C (p.Asn1259His)
c.1748A>C
c.*1071A>C (n.*1071A>C)
n.4714A>C
n.3315A>C
c.3826A>C (p.Asn1276His)
c.3874A>C (p.Asn1292His)
c.3934A>C (p.Asn1312His)
c.3484A>C (p.Asn1162His)
c.1786A>C (p.Asn596His)
c.1603A>C (p.Asn535His)
c.3835A>C (p.Asn1279His)
c.3787A>C (p.Asn1263His)
c.3556A>C (p.Asn1186His)
c.3457A>C (p.Asn1153His)
c.2638A>C (p.Asn880His)
n.4189A>C
 gnomAD v4
13g.51937328G>ACA483893494ATP7Bc.*1619C>T (n.*1619C>T)
c.*2713C>T (n.*2713C>T)
c.3348C>T (p.Ile1116=)
c.3969C>T (p.Ile1323=)
c.3636C>T (p.Ile1212=)
c.3717C>T (p.Ile1239=)
n.1292C>T
c.3735C>T (p.Ile1245=)
n.4108C>T
n.835C>T
c.2904C>T (p.Ile968=)
c.2679C>T (p.Ile893=)
c.3774C>T (p.Ile1258=)
c.1747C>T
c.*1070C>T (n.*1070C>T)
n.4713C>T
n.3314C>T
c.3825C>T (p.Ile1275=)
c.3873C>T (p.Ile1291=)
c.3933C>T (p.Ile1311=)
c.3483C>T (p.Ile1161=)
c.1785C>T (p.Ile595=)
c.1602C>T (p.Ile534=)
c.3834C>T (p.Ile1278=)
c.3786C>T (p.Ile1262=)
c.3555C>T (p.Ile1185=)
c.3456C>T (p.Ile1152=)
c.2637C>T (p.Ile879=)
n.4188C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51937328G>CCA388021012ATP7Bc.*1619C>G (n.*1619C>G)
c.*2713C>G (n.*2713C>G)
c.3348C>G (p.Ile1116Met)
c.3969C>G (p.Ile1323Met)
c.3636C>G (p.Ile1212Met)
c.3717C>G (p.Ile1239Met)
n.1292C>G
c.3735C>G (p.Ile1245Met)
n.4108C>G
n.835C>G
c.2904C>G (p.Ile968Met)
c.2679C>G (p.Ile893Met)
c.3774C>G (p.Ile1258Met)
c.1747C>G
c.*1070C>G (n.*1070C>G)
n.4713C>G
n.3314C>G
c.3825C>G (p.Ile1275Met)
c.3873C>G (p.Ile1291Met)
c.3933C>G (p.Ile1311Met)
c.3483C>G (p.Ile1161Met)
c.1785C>G (p.Ile595Met)
c.1602C>G (p.Ile534Met)
c.3834C>G (p.Ile1278Met)
c.3786C>G (p.Ile1262Met)
c.3555C>G (p.Ile1185Met)
c.3456C>G (p.Ile1152Met)
c.2637C>G (p.Ile879Met)
n.4188C>G
13g.51937328G=CA2091553413ATP7Bc.*1619C= (n.*1619C=)
c.*2713C= (n.*2713C=)
c.3348C= (p.Ile1116=)
c.3969C= (p.Ile1323=)
c.3636C= (p.Ile1212=)
c.3717C= (p.Ile1239=)
n.1292C=
c.3735C= (p.Ile1245=)
n.4108C=
n.835C=
c.2904C= (p.Ile968=)
c.2679C= (p.Ile893=)
c.3774C= (p.Ile1258=)
c.1747C=
c.*1070C= (n.*1070C=)
n.4713C=
n.3314C=
c.3825C= (p.Ile1275=)
c.3873C= (p.Ile1291=)
c.3933C= (p.Ile1311=)
c.3483C= (p.Ile1161=)
c.1785C= (p.Ile595=)
c.1602C= (p.Ile534=)
c.3834C= (p.Ile1278=)
c.3786C= (p.Ile1262=)
c.3555C= (p.Ile1185=)
c.3456C= (p.Ile1152=)
c.2637C= (p.Ile879=)
n.4188C=
13g.51937328G>TCA483893493ATP7Bc.*1619C>A (n.*1619C>A)
c.*2713C>A (n.*2713C>A)
c.3348C>A (p.Ile1116=)
c.3969C>A (p.Ile1323=)
c.3636C>A (p.Ile1212=)
c.3717C>A (p.Ile1239=)
n.1292C>A
c.3735C>A (p.Ile1245=)
n.4108C>A
n.835C>A
c.2904C>A (p.Ile968=)
c.2679C>A (p.Ile893=)
c.3774C>A (p.Ile1258=)
c.1747C>A
c.*1070C>A (n.*1070C>A)
n.4713C>A
n.3314C>A
c.3825C>A (p.Ile1275=)
c.3873C>A (p.Ile1291=)
c.3933C>A (p.Ile1311=)
c.3483C>A (p.Ile1161=)
c.1785C>A (p.Ile595=)
c.1602C>A (p.Ile534=)
c.3834C>A (p.Ile1278=)
c.3786C>A (p.Ile1262=)
c.3555C>A (p.Ile1185=)
c.3456C>A (p.Ile1152=)
c.2637C>A (p.Ile879=)
n.4188C>A
13g.51937329A>CCA388021023ATP7Bc.*1618T>G (n.*1618T>G)
c.*2712T>G (n.*2712T>G)
c.3347T>G (p.Ile1116Ser)
c.3968T>G (p.Ile1323Ser)
c.3635T>G (p.Ile1212Ser)
c.3716T>G (p.Ile1239Ser)
n.1291T>G
c.3734T>G (p.Ile1245Ser)
n.4107T>G
n.834T>G
c.2903T>G (p.Ile968Ser)
c.2678T>G (p.Ile893Ser)
c.3773T>G (p.Ile1258Ser)
c.1746T>G
c.*1069T>G (n.*1069T>G)
n.4712T>G
n.3313T>G
c.3824T>G (p.Ile1275Ser)
c.3872T>G (p.Ile1291Ser)
c.3932T>G (p.Ile1311Ser)
c.3482T>G (p.Ile1161Ser)
c.1784T>G (p.Ile595Ser)
c.1601T>G (p.Ile534Ser)
c.3833T>G (p.Ile1278Ser)
c.3785T>G (p.Ile1262Ser)
c.3554T>G (p.Ile1185Ser)
c.3455T>G (p.Ile1152Ser)
c.2636T>G (p.Ile879Ser)
n.4187T>G
13g.51937329A>GCA388021017ATP7Bc.*1618T>C (n.*1618T>C)
c.*2712T>C (n.*2712T>C)
c.3347T>C (p.Ile1116Thr)
c.3968T>C (p.Ile1323Thr)
c.3635T>C (p.Ile1212Thr)
c.3716T>C (p.Ile1239Thr)
n.1291T>C
c.3734T>C (p.Ile1245Thr)
n.4107T>C
n.834T>C
c.2903T>C (p.Ile968Thr)
c.2678T>C (p.Ile893Thr)
c.3773T>C (p.Ile1258Thr)
c.1746T>C
c.*1069T>C (n.*1069T>C)
n.4712T>C
n.3313T>C
c.3824T>C (p.Ile1275Thr)
c.3872T>C (p.Ile1291Thr)
c.3932T>C (p.Ile1311Thr)
c.3482T>C (p.Ile1161Thr)
c.1784T>C (p.Ile595Thr)
c.1601T>C (p.Ile534Thr)
c.3833T>C (p.Ile1278Thr)
c.3785T>C (p.Ile1262Thr)
c.3554T>C (p.Ile1185Thr)
c.3455T>C (p.Ile1152Thr)
c.2636T>C (p.Ile879Thr)
n.4187T>C
13g.51937329A>TCA388021020ATP7Bc.*1618T>A (n.*1618T>A)
c.*2712T>A (n.*2712T>A)
c.3347T>A (p.Ile1116Asn)
c.3968T>A (p.Ile1323Asn)
c.3635T>A (p.Ile1212Asn)
c.3716T>A (p.Ile1239Asn)
n.1291T>A
c.3734T>A (p.Ile1245Asn)
n.4107T>A
n.834T>A
c.2903T>A (p.Ile968Asn)
c.2678T>A (p.Ile893Asn)
c.3773T>A (p.Ile1258Asn)
c.1746T>A
c.*1069T>A (n.*1069T>A)
n.4712T>A
n.3313T>A
c.3824T>A (p.Ile1275Asn)
c.3872T>A (p.Ile1291Asn)
c.3932T>A (p.Ile1311Asn)
c.3482T>A (p.Ile1161Asn)
c.1784T>A (p.Ile595Asn)
c.1601T>A (p.Ile534Asn)
c.3833T>A (p.Ile1278Asn)
c.3785T>A (p.Ile1262Asn)
c.3554T>A (p.Ile1185Asn)
c.3455T>A (p.Ile1152Asn)
c.2636T>A (p.Ile879Asn)
n.4187T>A
13g.51937330T>ACA388021027ATP7Bc.*1617A>T (n.*1617A>T)
c.*2711A>T (n.*2711A>T)
c.3346A>T (p.Ile1116Phe)
c.3967A>T (p.Ile1323Phe)
c.3634A>T (p.Ile1212Phe)
c.3715A>T (p.Ile1239Phe)
n.1290A>T
c.3733A>T (p.Ile1245Phe)
n.4106A>T
n.833A>T
c.2902A>T (p.Ile968Phe)
c.2677A>T (p.Ile893Phe)
c.3772A>T (p.Ile1258Phe)
c.1745A>T
c.*1068A>T (n.*1068A>T)
n.4711A>T
n.3312A>T
c.3823A>T (p.Ile1275Phe)
c.3871A>T (p.Ile1291Phe)
c.3931A>T (p.Ile1311Phe)
c.3481A>T (p.Ile1161Phe)
c.1783A>T (p.Ile595Phe)
c.1600A>T (p.Ile534Phe)
c.3832A>T (p.Ile1278Phe)
c.3784A>T (p.Ile1262Phe)
c.3553A>T (p.Ile1185Phe)
c.3454A>T (p.Ile1152Phe)
c.2635A>T (p.Ile879Phe)
n.4186A>T
13g.51937330T>CCA6988523ATP7Bc.*1617A>G (n.*1617A>G)
c.*2711A>G (n.*2711A>G)
c.3346A>G (p.Ile1116Val)
c.3967A>G (p.Ile1323Val)
c.3634A>G (p.Ile1212Val)
c.3715A>G (p.Ile1239Val)
n.1290A>G
c.3733A>G (p.Ile1245Val)
n.4106A>G
n.833A>G
c.2902A>G (p.Ile968Val)
c.2677A>G (p.Ile893Val)
c.3772A>G (p.Ile1258Val)
c.1745A>G
c.*1068A>G (n.*1068A>G)
n.4711A>G
n.3312A>G
c.3823A>G (p.Ile1275Val)
c.3871A>G (p.Ile1291Val)
c.3931A>G (p.Ile1311Val)
c.3481A>G (p.Ile1161Val)
c.1783A>G (p.Ile595Val)
c.1600A>G (p.Ile534Val)
c.3832A>G (p.Ile1278Val)
c.3784A>G (p.Ile1262Val)
c.3553A>G (p.Ile1185Val)
c.3454A>G (p.Ile1152Val)
c.2635A>G (p.Ile879Val)
n.4186A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937330T>GCA388021032ATP7Bc.*1617A>C (n.*1617A>C)
c.*2711A>C (n.*2711A>C)
c.3346A>C (p.Ile1116Leu)
c.3967A>C (p.Ile1323Leu)
c.3634A>C (p.Ile1212Leu)
c.3715A>C (p.Ile1239Leu)
n.1290A>C
c.3733A>C (p.Ile1245Leu)
n.4106A>C
n.833A>C
c.2902A>C (p.Ile968Leu)
c.2677A>C (p.Ile893Leu)
c.3772A>C (p.Ile1258Leu)
c.1745A>C
c.*1068A>C (n.*1068A>C)
n.4711A>C
n.3312A>C
c.3823A>C (p.Ile1275Leu)
c.3871A>C (p.Ile1291Leu)
c.3931A>C (p.Ile1311Leu)
c.3481A>C (p.Ile1161Leu)
c.1783A>C (p.Ile595Leu)
c.1600A>C (p.Ile534Leu)
c.3832A>C (p.Ile1278Leu)
c.3784A>C (p.Ile1262Leu)
c.3553A>C (p.Ile1185Leu)
c.3454A>C (p.Ile1152Leu)
c.2635A>C (p.Ile879Leu)
n.4186A>C
 gnomAD v4
13g.51937330T=CA2091553419ATP7Bc.*1617A= (n.*1617A=)
c.*2711A= (n.*2711A=)
c.3346A= (p.Ile1116=)
c.3967A= (p.Ile1323=)
c.3634A= (p.Ile1212=)
c.3715A= (p.Ile1239=)
n.1290A=
c.3733A= (p.Ile1245=)
n.4106A=
n.833A=
c.2902A= (p.Ile968=)
c.2677A= (p.Ile893=)
c.3772A= (p.Ile1258=)
c.1745A=
c.*1068A= (n.*1068A=)
n.4711A=
n.3312A=
c.3823A= (p.Ile1275=)
c.3871A= (p.Ile1291=)
c.3931A= (p.Ile1311=)
c.3481A= (p.Ile1161=)
c.1783A= (p.Ile595=)
c.1600A= (p.Ile534=)
c.3832A= (p.Ile1278=)
c.3784A= (p.Ile1262=)
c.3553A= (p.Ile1185=)
c.3454A= (p.Ile1152=)
c.2635A= (p.Ile879=)
n.4186A=
13g.51937331G>ACA483893495ATP7Bc.*1616C>T (n.*1616C>T)
c.*2710C>T (n.*2710C>T)
c.3345C>T (p.Arg1115=)
c.3966C>T (p.Arg1322=)
c.3633C>T (p.Arg1211=)
c.3714C>T (p.Arg1238=)
n.1289C>T
c.3732C>T (p.Arg1244=)
n.4105C>T
n.832C>T
c.2901C>T (p.Arg967=)
c.2676C>T (p.Arg892=)
c.3771C>T (p.Arg1257=)
c.1744C>T
c.*1067C>T (n.*1067C>T)
n.4710C>T
n.3311C>T
c.3822C>T (p.Arg1274=)
c.3870C>T (p.Arg1290=)
c.3930C>T (p.Arg1310=)
c.3480C>T (p.Arg1160=)
c.1782C>T (p.Arg594=)
c.1599C>T (p.Arg533=)
c.3831C>T (p.Arg1277=)
c.3783C>T (p.Arg1261=)
c.3552C>T (p.Arg1184=)
c.3453C>T (p.Arg1151=)
c.2634C>T (p.Arg878=)
n.4185C>T
 gnomAD v4
13g.51937331G>CCA483893496ATP7Bc.*1616C>G (n.*1616C>G)
c.*2710C>G (n.*2710C>G)
c.3345C>G (p.Arg1115=)
c.3966C>G (p.Arg1322=)
c.3633C>G (p.Arg1211=)
c.3714C>G (p.Arg1238=)
n.1289C>G
c.3732C>G (p.Arg1244=)
n.4105C>G
n.832C>G
c.2901C>G (p.Arg967=)
c.2676C>G (p.Arg892=)
c.3771C>G (p.Arg1257=)
c.1744C>G
c.*1067C>G (n.*1067C>G)
n.4710C>G
n.3311C>G
c.3822C>G (p.Arg1274=)
c.3870C>G (p.Arg1290=)
c.3930C>G (p.Arg1310=)
c.3480C>G (p.Arg1160=)
c.1782C>G (p.Arg594=)
c.1599C>G (p.Arg533=)
c.3831C>G (p.Arg1277=)
c.3783C>G (p.Arg1261=)
c.3552C>G (p.Arg1184=)
c.3453C>G (p.Arg1151=)
c.2634C>G (p.Arg878=)
n.4185C>G
13g.51937331G>TCA483893497ATP7Bc.*1616C>A (n.*1616C>A)
c.*2710C>A (n.*2710C>A)
c.3345C>A (p.Arg1115=)
c.3966C>A (p.Arg1322=)
c.3633C>A (p.Arg1211=)
c.3714C>A (p.Arg1238=)
n.1289C>A
c.3732C>A (p.Arg1244=)
n.4105C>A
n.832C>A
c.2901C>A (p.Arg967=)
c.2676C>A (p.Arg892=)
c.3771C>A (p.Arg1257=)
c.1744C>A
c.*1067C>A (n.*1067C>A)
n.4710C>A
n.3311C>A
c.3822C>A (p.Arg1274=)
c.3870C>A (p.Arg1290=)
c.3930C>A (p.Arg1310=)
c.3480C>A (p.Arg1160=)
c.1782C>A (p.Arg594=)
c.1599C>A (p.Arg533=)
c.3831C>A (p.Arg1277=)
c.3783C>A (p.Arg1261=)
c.3552C>A (p.Arg1184=)
c.3453C>A (p.Arg1151=)
c.2634C>A (p.Arg878=)
n.4185C>A
13g.51937332C>ACA388021033ATP7Bc.*1615G>T (n.*1615G>T)
c.*2709G>T (n.*2709G>T)
c.3344G>T (p.Arg1115Leu)
c.3965G>T (p.Arg1322Leu)
c.3632G>T (p.Arg1211Leu)
c.3713G>T (p.Arg1238Leu)
n.1288G>T
c.3731G>T (p.Arg1244Leu)
n.4104G>T
n.831G>T
c.2900G>T (p.Arg967Leu)
c.2675G>T (p.Arg892Leu)
c.3770G>T (p.Arg1257Leu)
c.1743G>T
c.*1066G>T (n.*1066G>T)
n.4709G>T
n.3310G>T
c.3821G>T (p.Arg1274Leu)
c.3869G>T (p.Arg1290Leu)
c.3929G>T (p.Arg1310Leu)
c.3479G>T (p.Arg1160Leu)
c.1781G>T (p.Arg594Leu)
c.1598G>T (p.Arg533Leu)
c.3830G>T (p.Arg1277Leu)
c.3782G>T (p.Arg1261Leu)
c.3551G>T (p.Arg1184Leu)
c.3452G>T (p.Arg1151Leu)
c.2633G>T (p.Arg878Leu)
n.4184G>T
13g.51937332C=CA2091553426ATP7Bc.*1615G= (n.*1615G=)
c.*2709G= (n.*2709G=)
c.3344G= (p.Arg1115=)
c.3965G= (p.Arg1322=)
c.3632G= (p.Arg1211=)
c.3713G= (p.Arg1238=)
n.1288G=
c.3731G= (p.Arg1244=)
n.4104G=
n.831G=
c.2900G= (p.Arg967=)
c.2675G= (p.Arg892=)
c.3770G= (p.Arg1257=)
c.1743G=
c.*1066G= (n.*1066G=)
n.4709G=
n.3310G=
c.3821G= (p.Arg1274=)
c.3869G= (p.Arg1290=)
c.3929G= (p.Arg1310=)
c.3479G= (p.Arg1160=)
c.1781G= (p.Arg594=)
c.1598G= (p.Arg533=)
c.3830G= (p.Arg1277=)
c.3782G= (p.Arg1261=)
c.3551G= (p.Arg1184=)
c.3452G= (p.Arg1151=)
c.2633G= (p.Arg878=)
n.4184G=
13g.51937332C>GCA250073357ATP7Bc.*1615G>C (n.*1615G>C)
c.*2709G>C (n.*2709G>C)
c.3344G>C (p.Arg1115Pro)
c.3965G>C (p.Arg1322Pro)
c.3632G>C (p.Arg1211Pro)
c.3713G>C (p.Arg1238Pro)
n.1288G>C
c.3731G>C (p.Arg1244Pro)
n.4104G>C
n.831G>C
c.2900G>C (p.Arg967Pro)
c.2675G>C (p.Arg892Pro)
c.3770G>C (p.Arg1257Pro)
c.1743G>C
c.*1066G>C (n.*1066G>C)
n.4709G>C
n.3310G>C
c.3821G>C (p.Arg1274Pro)
c.3869G>C (p.Arg1290Pro)
c.3929G>C (p.Arg1310Pro)
c.3479G>C (p.Arg1160Pro)
c.1781G>C (p.Arg594Pro)
c.1598G>C (p.Arg533Pro)
c.3830G>C (p.Arg1277Pro)
c.3782G>C (p.Arg1261Pro)
c.3551G>C (p.Arg1184Pro)
c.3452G>C (p.Arg1151Pro)
c.2633G>C (p.Arg878Pro)
n.4184G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51937332C>TCA6988524ATP7Bc.*1615G>A (n.*1615G>A)
c.*2709G>A (n.*2709G>A)
c.3344G>A (p.Arg1115His)
c.3965G>A (p.Arg1322His)
c.3632G>A (p.Arg1211His)
c.3713G>A (p.Arg1238His)
n.1288G>A
c.3731G>A (p.Arg1244His)
n.4104G>A
n.831G>A
c.2900G>A (p.Arg967His)
c.2675G>A (p.Arg892His)
c.3770G>A (p.Arg1257His)
c.1743G>A
c.*1066G>A (n.*1066G>A)
n.4709G>A
n.3310G>A
c.3821G>A (p.Arg1274His)
c.3869G>A (p.Arg1290His)
c.3929G>A (p.Arg1310His)
c.3479G>A (p.Arg1160His)
c.1781G>A (p.Arg594His)
c.1598G>A (p.Arg533His)
c.3830G>A (p.Arg1277His)
c.3782G>A (p.Arg1261His)
c.3551G>A (p.Arg1184His)
c.3452G>A (p.Arg1151His)
c.2633G>A (p.Arg878His)
n.4184G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51937333G>ACA6988525ATP7Bc.*1614C>T (n.*1614C>T)
c.*2708C>T (n.*2708C>T)
c.3343C>T (p.Arg1115Cys)
c.3964C>T (p.Arg1322Cys)
c.3631C>T (p.Arg1211Cys)
c.3712C>T (p.Arg1238Cys)
n.1287C>T
c.3730C>T (p.Arg1244Cys)
n.4103C>T
n.830C>T
c.2899C>T (p.Arg967Cys)
c.2674C>T (p.Arg892Cys)
c.3769C>T (p.Arg1257Cys)
c.1742C>T
c.*1065C>T (n.*1065C>T)
n.4708C>T
n.3309C>T
c.3820C>T (p.Arg1274Cys)
c.3868C>T (p.Arg1290Cys)
c.3928C>T (p.Arg1310Cys)
c.3478C>T (p.Arg1160Cys)
c.1780C>T (p.Arg594Cys)
c.1597C>T (p.Arg533Cys)
c.3829C>T (p.Arg1277Cys)
c.3781C>T (p.Arg1261Cys)
c.3550C>T (p.Arg1184Cys)
c.3451C>T (p.Arg1151Cys)
c.2632C>T (p.Arg878Cys)
n.4183C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937333G>CCA388021042ATP7Bc.*1614C>G (n.*1614C>G)
c.*2708C>G (n.*2708C>G)
c.3343C>G (p.Arg1115Gly)
c.3964C>G (p.Arg1322Gly)
c.3631C>G (p.Arg1211Gly)
c.3712C>G (p.Arg1238Gly)
n.1287C>G
c.3730C>G (p.Arg1244Gly)
n.4103C>G
n.830C>G
c.2899C>G (p.Arg967Gly)
c.2674C>G (p.Arg892Gly)
c.3769C>G (p.Arg1257Gly)
c.1742C>G
c.*1065C>G (n.*1065C>G)
n.4708C>G
n.3309C>G
c.3820C>G (p.Arg1274Gly)
c.3868C>G (p.Arg1290Gly)
c.3928C>G (p.Arg1310Gly)
c.3478C>G (p.Arg1160Gly)
c.1780C>G (p.Arg594Gly)
c.1597C>G (p.Arg533Gly)
c.3829C>G (p.Arg1277Gly)
c.3781C>G (p.Arg1261Gly)
c.3550C>G (p.Arg1184Gly)
c.3451C>G (p.Arg1151Gly)
c.2632C>G (p.Arg878Gly)
n.4183C>G
13g.51937333G=CA2091553434ATP7Bc.*1614C= (n.*1614C=)
c.*2708C= (n.*2708C=)
c.3343C= (p.Arg1115=)
c.3964C= (p.Arg1322=)
c.3631C= (p.Arg1211=)
c.3712C= (p.Arg1238=)
n.1287C=
c.3730C= (p.Arg1244=)
n.4103C=
n.830C=
c.2899C= (p.Arg967=)
c.2674C= (p.Arg892=)
c.3769C= (p.Arg1257=)
c.1742C=
c.*1065C= (n.*1065C=)
n.4708C=
n.3309C=
c.3820C= (p.Arg1274=)
c.3868C= (p.Arg1290=)
c.3928C= (p.Arg1310=)
c.3478C= (p.Arg1160=)
c.1780C= (p.Arg594=)
c.1597C= (p.Arg533=)
c.3829C= (p.Arg1277=)
c.3781C= (p.Arg1261=)
c.3550C= (p.Arg1184=)
c.3451C= (p.Arg1151=)
c.2632C= (p.Arg878=)
n.4183C=
13g.51937333G>TCA388021044ATP7Bc.*1614C>A (n.*1614C>A)
c.*2708C>A (n.*2708C>A)
c.3343C>A (p.Arg1115Ser)
c.3964C>A (p.Arg1322Ser)
c.3631C>A (p.Arg1211Ser)
c.3712C>A (p.Arg1238Ser)
n.1287C>A
c.3730C>A (p.Arg1244Ser)
n.4103C>A
n.830C>A
c.2899C>A (p.Arg967Ser)
c.2674C>A (p.Arg892Ser)
c.3769C>A (p.Arg1257Ser)
c.1742C>A
c.*1065C>A (n.*1065C>A)
n.4708C>A
n.3309C>A
c.3820C>A (p.Arg1274Ser)
c.3868C>A (p.Arg1290Ser)
c.3928C>A (p.Arg1310Ser)
c.3478C>A (p.Arg1160Ser)
c.1780C>A (p.Arg594Ser)
c.1597C>A (p.Arg533Ser)
c.3829C>A (p.Arg1277Ser)
c.3781C>A (p.Arg1261Ser)
c.3550C>A (p.Arg1184Ser)
c.3451C>A (p.Arg1151Ser)
c.2632C>A (p.Arg878Ser)
n.4183C>A
13g.51937333_51937334dupCA2573149691ATP7Bc.*1613_*1614dup (n.*1613_*1614dup)
c.*2707_*2708dup (n.*2707_*2708dup)
c.3342_3343dup (p.Arg1115HisfsTer9)
c.3963_3964dup (p.Arg1322HisfsTer9)
c.3630_3631dup (p.Arg1211HisfsTer9)
c.3711_3712dup (p.Arg1238HisfsTer9)
n.1286_1287dup
c.3729_3730dup (p.Arg1244HisfsTer9)
n.4102_4103dup
n.829_830dup
c.2898_2899dup (p.Arg967HisfsTer9)
c.2673_2674dup (p.Arg892HisfsTer9)
c.3768_3769dup (p.Arg1257HisfsTer9)
c.1741_1742dup
c.*1064_*1065dup (n.*1064_*1065dup)
n.4707_4708dup
n.3308_3309dup
c.3819_3820dup (p.Arg1274HisfsTer9)
c.3867_3868dup (p.Arg1290HisfsTer9)
c.3927_3928dup (p.Arg1310HisfsTer9)
c.3477_3478dup (p.Arg1160HisfsTer9)
c.1779_1780dup (p.Arg594HisfsTer9)
c.1596_1597dup (p.Arg533HisfsTer9)
c.3828_3829dup (p.Arg1277HisfsTer9)
c.3780_3781dup (p.Arg1261HisfsTer9)
c.3549_3550dup (p.Arg1184HisfsTer9)
c.3450_3451dup (p.Arg1151HisfsTer9)
c.2631_2632dup (p.Arg878HisfsTer9)
n.4182_4183dup
 ClinVar dbSNP
13g.51937334T>ACA483893498ATP7Bc.*1613A>T (n.*1613A>T)
c.*2707A>T (n.*2707A>T)
c.3342A>T (p.Ile1114=)
c.3963A>T (p.Ile1321=)
c.3630A>T (p.Ile1210=)
c.3711A>T (p.Ile1237=)
n.1286A>T
c.3729A>T (p.Ile1243=)
n.4102A>T
n.829A>T
c.2898A>T (p.Ile966=)
c.2673A>T (p.Ile891=)
c.3768A>T (p.Ile1256=)
c.1741A>T
c.*1064A>T (n.*1064A>T)
n.4707A>T
n.3308A>T
c.3819A>T (p.Ile1273=)
c.3867A>T (p.Ile1289=)
c.3927A>T (p.Ile1309=)
c.3477A>T (p.Ile1159=)
c.1779A>T (p.Ile593=)
c.1596A>T (p.Ile532=)
c.3828A>T (p.Ile1276=)
c.3780A>T (p.Ile1260=)
c.3549A>T (p.Ile1183=)
c.3450A>T (p.Ile1150=)
c.2631A>T (p.Ile877=)
n.4182A>T
13g.51937334T>CCA388021047ATP7Bc.*1613A>G (n.*1613A>G)
c.*2707A>G (n.*2707A>G)
c.3342A>G (p.Ile1114Met)
c.3963A>G (p.Ile1321Met)
c.3630A>G (p.Ile1210Met)
c.3711A>G (p.Ile1237Met)
n.1286A>G
c.3729A>G (p.Ile1243Met)
n.4102A>G
n.829A>G
c.2898A>G (p.Ile966Met)
c.2673A>G (p.Ile891Met)
c.3768A>G (p.Ile1256Met)
c.1741A>G
c.*1064A>G (n.*1064A>G)
n.4707A>G
n.3308A>G
c.3819A>G (p.Ile1273Met)
c.3867A>G (p.Ile1289Met)
c.3927A>G (p.Ile1309Met)
c.3477A>G (p.Ile1159Met)
c.1779A>G (p.Ile593Met)
c.1596A>G (p.Ile532Met)
c.3828A>G (p.Ile1276Met)
c.3780A>G (p.Ile1260Met)
c.3549A>G (p.Ile1183Met)
c.3450A>G (p.Ile1150Met)
c.2631A>G (p.Ile877Met)
n.4182A>G
 gnomAD v4
13g.51937334T>GCA483893499ATP7Bc.*1613A>C (n.*1613A>C)
c.*2707A>C (n.*2707A>C)
c.3342A>C (p.Ile1114=)
c.3963A>C (p.Ile1321=)
c.3630A>C (p.Ile1210=)
c.3711A>C (p.Ile1237=)
n.1286A>C
c.3729A>C (p.Ile1243=)
n.4102A>C
n.829A>C
c.2898A>C (p.Ile966=)
c.2673A>C (p.Ile891=)
c.3768A>C (p.Ile1256=)
c.1741A>C
c.*1064A>C (n.*1064A>C)
n.4707A>C
n.3308A>C
c.3819A>C (p.Ile1273=)
c.3867A>C (p.Ile1289=)
c.3927A>C (p.Ile1309=)
c.3477A>C (p.Ile1159=)
c.1779A>C (p.Ile593=)
c.1596A>C (p.Ile532=)
c.3828A>C (p.Ile1276=)
c.3780A>C (p.Ile1260=)
c.3549A>C (p.Ile1183=)
c.3450A>C (p.Ile1150=)
c.2631A>C (p.Ile877=)
n.4182A>C
13g.51937335A>CCA388021049ATP7Bc.*1612T>G (n.*1612T>G)
c.*2706T>G (n.*2706T>G)
c.3341T>G (p.Ile1114Arg)
c.3962T>G (p.Ile1321Arg)
c.3629T>G (p.Ile1210Arg)
c.3710T>G (p.Ile1237Arg)
n.1285T>G
c.3728T>G (p.Ile1243Arg)
n.4101T>G
n.828T>G
c.2897T>G (p.Ile966Arg)
c.2672T>G (p.Ile891Arg)
c.3767T>G (p.Ile1256Arg)
c.1740T>G
c.*1063T>G (n.*1063T>G)
n.4706T>G
n.3307T>G
c.3818T>G (p.Ile1273Arg)
c.3866T>G (p.Ile1289Arg)
c.3926T>G (p.Ile1309Arg)
c.3476T>G (p.Ile1159Arg)
c.1778T>G (p.Ile593Arg)
c.1595T>G (p.Ile532Arg)
c.3827T>G (p.Ile1276Arg)
c.3779T>G (p.Ile1260Arg)
c.3548T>G (p.Ile1183Arg)
c.3449T>G (p.Ile1150Arg)
c.2630T>G (p.Ile877Arg)
n.4181T>G
13g.51937335A>GCA388021056ATP7Bc.*1612T>C (n.*1612T>C)
c.*2706T>C (n.*2706T>C)
c.3341T>C (p.Ile1114Thr)
c.3962T>C (p.Ile1321Thr)
c.3629T>C (p.Ile1210Thr)
c.3710T>C (p.Ile1237Thr)
n.1285T>C
c.3728T>C (p.Ile1243Thr)
n.4101T>C
n.828T>C
c.2897T>C (p.Ile966Thr)
c.2672T>C (p.Ile891Thr)
c.3767T>C (p.Ile1256Thr)
c.1740T>C
c.*1063T>C (n.*1063T>C)
n.4706T>C
n.3307T>C
c.3818T>C (p.Ile1273Thr)
c.3866T>C (p.Ile1289Thr)
c.3926T>C (p.Ile1309Thr)
c.3476T>C (p.Ile1159Thr)
c.1778T>C (p.Ile593Thr)
c.1595T>C (p.Ile532Thr)
c.3827T>C (p.Ile1276Thr)
c.3779T>C (p.Ile1260Thr)
c.3548T>C (p.Ile1183Thr)
c.3449T>C (p.Ile1150Thr)
c.2630T>C (p.Ile877Thr)
n.4181T>C
13g.51937335A>TCA388021053ATP7Bc.*1612T>A (n.*1612T>A)
c.*2706T>A (n.*2706T>A)
c.3341T>A (p.Ile1114Lys)
c.3962T>A (p.Ile1321Lys)
c.3629T>A (p.Ile1210Lys)
c.3710T>A (p.Ile1237Lys)
n.1285T>A
c.3728T>A (p.Ile1243Lys)
n.4101T>A
n.828T>A
c.2897T>A (p.Ile966Lys)
c.2672T>A (p.Ile891Lys)
c.3767T>A (p.Ile1256Lys)
c.1740T>A
c.*1063T>A (n.*1063T>A)
n.4706T>A
n.3307T>A
c.3818T>A (p.Ile1273Lys)
c.3866T>A (p.Ile1289Lys)
c.3926T>A (p.Ile1309Lys)
c.3476T>A (p.Ile1159Lys)
c.1778T>A (p.Ile593Lys)
c.1595T>A (p.Ile532Lys)
c.3827T>A (p.Ile1276Lys)
c.3779T>A (p.Ile1260Lys)
c.3548T>A (p.Ile1183Lys)
c.3449T>A (p.Ile1150Lys)
c.2630T>A (p.Ile877Lys)
n.4181T>A
13g.51937336T>ACA388021057ATP7Bc.*1611A>T (n.*1611A>T)
c.*2705A>T (n.*2705A>T)
c.3340A>T (p.Ile1114Leu)
c.3961A>T (p.Ile1321Leu)
c.3628A>T (p.Ile1210Leu)
c.3709A>T (p.Ile1237Leu)
n.1284A>T
c.3727A>T (p.Ile1243Leu)
n.4100A>T
n.827A>T
c.2896A>T (p.Ile966Leu)
c.2671A>T (p.Ile891Leu)
c.3766A>T (p.Ile1256Leu)
c.1739A>T
c.*1062A>T (n.*1062A>T)
n.4705A>T
n.3306A>T
c.3817A>T (p.Ile1273Leu)
c.3865A>T (p.Ile1289Leu)
c.3925A>T (p.Ile1309Leu)
c.3475A>T (p.Ile1159Leu)
c.1777A>T (p.Ile593Leu)
c.1594A>T (p.Ile532Leu)
c.3826A>T (p.Ile1276Leu)
c.3778A>T (p.Ile1260Leu)
c.3547A>T (p.Ile1183Leu)
c.3448A>T (p.Ile1150Leu)
c.2629A>T (p.Ile877Leu)
n.4180A>T
 gnomAD v4
13g.51937336T>CCA388021059ATP7Bc.*1611A>G (n.*1611A>G)
c.*2705A>G (n.*2705A>G)
c.3340A>G (p.Ile1114Val)
c.3961A>G (p.Ile1321Val)
c.3628A>G (p.Ile1210Val)
c.3709A>G (p.Ile1237Val)
n.1284A>G
c.3727A>G (p.Ile1243Val)
n.4100A>G
n.827A>G
c.2896A>G (p.Ile966Val)
c.2671A>G (p.Ile891Val)
c.3766A>G (p.Ile1256Val)
c.1739A>G
c.*1062A>G (n.*1062A>G)
n.4705A>G
n.3306A>G
c.3817A>G (p.Ile1273Val)
c.3865A>G (p.Ile1289Val)
c.3925A>G (p.Ile1309Val)
c.3475A>G (p.Ile1159Val)
c.1777A>G (p.Ile593Val)
c.1594A>G (p.Ile532Val)
c.3826A>G (p.Ile1276Val)
c.3778A>G (p.Ile1260Val)
c.3547A>G (p.Ile1183Val)
c.3448A>G (p.Ile1150Val)
c.2629A>G (p.Ile877Val)
n.4180A>G
 dbSNP gnomAD v3 gnomAD v4
13g.51937336T>GCA388021062ATP7Bc.*1611A>C (n.*1611A>C)
c.*2705A>C (n.*2705A>C)
c.3340A>C (p.Ile1114Leu)
c.3961A>C (p.Ile1321Leu)
c.3628A>C (p.Ile1210Leu)
c.3709A>C (p.Ile1237Leu)
n.1284A>C
c.3727A>C (p.Ile1243Leu)
n.4100A>C
n.827A>C
c.2896A>C (p.Ile966Leu)
c.2671A>C (p.Ile891Leu)
c.3766A>C (p.Ile1256Leu)
c.1739A>C
c.*1062A>C (n.*1062A>C)
n.4705A>C
n.3306A>C
c.3817A>C (p.Ile1273Leu)
c.3865A>C (p.Ile1289Leu)
c.3925A>C (p.Ile1309Leu)
c.3475A>C (p.Ile1159Leu)
c.1777A>C (p.Ile593Leu)
c.1594A>C (p.Ile532Leu)
c.3826A>C (p.Ile1276Leu)
c.3778A>C (p.Ile1260Leu)
c.3547A>C (p.Ile1183Leu)
c.3448A>C (p.Ile1150Leu)
c.2629A>C (p.Ile877Leu)
n.4180A>C
13g.51937336T=CA2091553439ATP7Bc.*1611A= (n.*1611A=)
c.*2705A= (n.*2705A=)
c.3340A= (p.Ile1114=)
c.3961A= (p.Ile1321=)
c.3628A= (p.Ile1210=)
c.3709A= (p.Ile1237=)
n.1284A=
c.3727A= (p.Ile1243=)
n.4100A=
n.827A=
c.2896A= (p.Ile966=)
c.2671A= (p.Ile891=)
c.3766A= (p.Ile1256=)
c.1739A=
c.*1062A= (n.*1062A=)
n.4705A=
n.3306A=
c.3817A= (p.Ile1273=)
c.3865A= (p.Ile1289=)
c.3925A= (p.Ile1309=)
c.3475A= (p.Ile1159=)
c.1777A= (p.Ile593=)
c.1594A= (p.Ile532=)
c.3826A= (p.Ile1276=)
c.3778A= (p.Ile1260=)
c.3547A= (p.Ile1183=)
c.3448A= (p.Ile1150=)
c.2629A= (p.Ile877=)
n.4180A=
13g.51937337C>ACA388021067ATP7Bc.*1610G>T (n.*1610G>T)
c.*2704G>T (n.*2704G>T)
c.3339G>T (p.Arg1113Ser)
c.3960G>T (p.Arg1320Ser)
c.3627G>T (p.Arg1209Ser)
c.3708G>T (p.Arg1236Ser)
n.1283G>T
c.3726G>T (p.Arg1242Ser)
n.4099G>T
n.826G>T
c.2895G>T (p.Arg965Ser)
c.2670G>T (p.Arg890Ser)
c.3765G>T (p.Arg1255Ser)
c.1738G>T
c.*1061G>T (n.*1061G>T)
n.4704G>T
n.3305G>T
c.3816G>T (p.Arg1272Ser)
c.3864G>T (p.Arg1288Ser)
c.3924G>T (p.Arg1308Ser)
c.3474G>T (p.Arg1158Ser)
c.1776G>T (p.Arg592Ser)
c.1593G>T (p.Arg531Ser)
c.3825G>T (p.Arg1275Ser)
c.3777G>T (p.Arg1259Ser)
c.3546G>T (p.Arg1182Ser)
c.3447G>T (p.Arg1149Ser)
c.2628G>T (p.Arg876Ser)
n.4179G>T
13g.51937337C=CA2091553443ATP7Bc.*1610G= (n.*1610G=)
c.*2704G= (n.*2704G=)
c.3339G= (p.Arg1113=)
c.3960G= (p.Arg1320=)
c.3627G= (p.Arg1209=)
c.3708G= (p.Arg1236=)
n.1283G=
c.3726G= (p.Arg1242=)
n.4099G=
n.826G=
c.2895G= (p.Arg965=)
c.2670G= (p.Arg890=)
c.3765G= (p.Arg1255=)
c.1738G=
c.*1061G= (n.*1061G=)
n.4704G=
n.3305G=
c.3816G= (p.Arg1272=)
c.3864G= (p.Arg1288=)
c.3924G= (p.Arg1308=)
c.3474G= (p.Arg1158=)
c.1776G= (p.Arg592=)
c.1593G= (p.Arg531=)
c.3825G= (p.Arg1275=)
c.3777G= (p.Arg1259=)
c.3546G= (p.Arg1182=)
c.3447G= (p.Arg1149=)
c.2628G= (p.Arg876=)
n.4179G=
13g.51937337C>GCA6988526ATP7Bc.*1610G>C (n.*1610G>C)
c.*2704G>C (n.*2704G>C)
c.3339G>C (p.Arg1113Ser)
c.3960G>C (p.Arg1320Ser)
c.3627G>C (p.Arg1209Ser)
c.3708G>C (p.Arg1236Ser)
n.1283G>C
c.3726G>C (p.Arg1242Ser)
n.4099G>C
n.826G>C
c.2895G>C (p.Arg965Ser)
c.2670G>C (p.Arg890Ser)
c.3765G>C (p.Arg1255Ser)
c.1738G>C
c.*1061G>C (n.*1061G>C)
n.4704G>C
n.3305G>C
c.3816G>C (p.Arg1272Ser)
c.3864G>C (p.Arg1288Ser)
c.3924G>C (p.Arg1308Ser)
c.3474G>C (p.Arg1158Ser)
c.1776G>C (p.Arg592Ser)
c.1593G>C (p.Arg531Ser)
c.3825G>C (p.Arg1275Ser)
c.3777G>C (p.Arg1259Ser)
c.3546G>C (p.Arg1182Ser)
c.3447G>C (p.Arg1149Ser)
c.2628G>C (p.Arg876Ser)
n.4179G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51937337C>TCA483893500ATP7Bc.*1610G>A (n.*1610G>A)
c.*2704G>A (n.*2704G>A)
c.3339G>A (p.Arg1113=)
c.3960G>A (p.Arg1320=)
c.3627G>A (p.Arg1209=)
c.3708G>A (p.Arg1236=)
n.1283G>A
c.3726G>A (p.Arg1242=)
n.4099G>A
n.826G>A
c.2895G>A (p.Arg965=)
c.2670G>A (p.Arg890=)
c.3765G>A (p.Arg1255=)
c.1738G>A
c.*1061G>A (n.*1061G>A)
n.4704G>A
n.3305G>A
c.3816G>A (p.Arg1272=)
c.3864G>A (p.Arg1288=)
c.3924G>A (p.Arg1308=)
c.3474G>A (p.Arg1158=)
c.1776G>A (p.Arg592=)
c.1593G>A (p.Arg531=)
c.3825G>A (p.Arg1275=)
c.3777G>A (p.Arg1259=)
c.3546G>A (p.Arg1182=)
c.3447G>A (p.Arg1149=)
c.2628G>A (p.Arg876=)
n.4179G>A
13g.51937338C>ACA388021080ATP7Bc.*1609G>T (n.*1609G>T)
c.*2703G>T (n.*2703G>T)
c.3338G>T (p.Arg1113Met)
c.3959G>T (p.Arg1320Met)
c.3626G>T (p.Arg1209Met)
c.3707G>T (p.Arg1236Met)
n.1282G>T
c.3725G>T (p.Arg1242Met)
n.4098G>T
n.825G>T
c.2894G>T (p.Arg965Met)
c.2669G>T (p.Arg890Met)
c.3764G>T (p.Arg1255Met)
c.1737G>T
c.*1060G>T (n.*1060G>T)
n.4703G>T
n.3304G>T
c.3815G>T (p.Arg1272Met)
c.3863G>T (p.Arg1288Met)
c.3923G>T (p.Arg1308Met)
c.3473G>T (p.Arg1158Met)
c.1775G>T (p.Arg592Met)
c.1592G>T (p.Arg531Met)
c.3824G>T (p.Arg1275Met)
c.3776G>T (p.Arg1259Met)
c.3545G>T (p.Arg1182Met)
c.3446G>T (p.Arg1149Met)
c.2627G>T (p.Arg876Met)
n.4178G>T
13g.51937338C=CA2091553452ATP7Bc.*1609G= (n.*1609G=)
c.*2703G= (n.*2703G=)
c.3338G= (p.Arg1113=)
c.3959G= (p.Arg1320=)
c.3626G= (p.Arg1209=)
c.3707G= (p.Arg1236=)
n.1282G=
c.3725G= (p.Arg1242=)
n.4098G=
n.825G=
c.2894G= (p.Arg965=)
c.2669G= (p.Arg890=)
c.3764G= (p.Arg1255=)
c.1737G=
c.*1060G= (n.*1060G=)
n.4703G=
n.3304G=
c.3815G= (p.Arg1272=)
c.3863G= (p.Arg1288=)
c.3923G= (p.Arg1308=)
c.3473G= (p.Arg1158=)
c.1775G= (p.Arg592=)
c.1592G= (p.Arg531=)
c.3824G= (p.Arg1275=)
c.3776G= (p.Arg1259=)
c.3545G= (p.Arg1182=)
c.3446G= (p.Arg1149=)
c.2627G= (p.Arg876=)
n.4178G=
13g.51937338C>GCA6988527ATP7Bc.*1609G>C (n.*1609G>C)
c.*2703G>C (n.*2703G>C)
c.3338G>C (p.Arg1113Thr)
c.3959G>C (p.Arg1320Thr)
c.3626G>C (p.Arg1209Thr)
c.3707G>C (p.Arg1236Thr)
n.1282G>C
c.3725G>C (p.Arg1242Thr)
n.4098G>C
n.825G>C
c.2894G>C (p.Arg965Thr)
c.2669G>C (p.Arg890Thr)
c.3764G>C (p.Arg1255Thr)
c.1737G>C
c.*1060G>C (n.*1060G>C)
n.4703G>C
n.3304G>C
c.3815G>C (p.Arg1272Thr)
c.3863G>C (p.Arg1288Thr)
c.3923G>C (p.Arg1308Thr)
c.3473G>C (p.Arg1158Thr)
c.1775G>C (p.Arg592Thr)
c.1592G>C (p.Arg531Thr)
c.3824G>C (p.Arg1275Thr)
c.3776G>C (p.Arg1259Thr)
c.3545G>C (p.Arg1182Thr)
c.3446G>C (p.Arg1149Thr)
c.2627G>C (p.Arg876Thr)
n.4178G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937338C>TCA6988528ATP7Bc.*1609G>A (n.*1609G>A)
c.*2703G>A (n.*2703G>A)
c.3338G>A (p.Arg1113Lys)
c.3959G>A (p.Arg1320Lys)
c.3626G>A (p.Arg1209Lys)
c.3707G>A (p.Arg1236Lys)
n.1282G>A
c.3725G>A (p.Arg1242Lys)
n.4098G>A
n.825G>A
c.2894G>A (p.Arg965Lys)
c.2669G>A (p.Arg890Lys)
c.3764G>A (p.Arg1255Lys)
c.1737G>A
c.*1060G>A (n.*1060G>A)
n.4703G>A
n.3304G>A
c.3815G>A (p.Arg1272Lys)
c.3863G>A (p.Arg1288Lys)
c.3923G>A (p.Arg1308Lys)
c.3473G>A (p.Arg1158Lys)
c.1775G>A (p.Arg592Lys)
c.1592G>A (p.Arg531Lys)
c.3824G>A (p.Arg1275Lys)
c.3776G>A (p.Arg1259Lys)
c.3545G>A (p.Arg1182Lys)
c.3446G>A (p.Arg1149Lys)
c.2627G>A (p.Arg876Lys)
n.4178G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937339T>ACA388021084ATP7Bc.*1608A>T (n.*1608A>T)
c.*2702A>T (n.*2702A>T)
c.3337A>T (p.Arg1113Trp)
c.3958A>T (p.Arg1320Trp)
c.3625A>T (p.Arg1209Trp)
c.3706A>T (p.Arg1236Trp)
n.1281A>T
c.3724A>T (p.Arg1242Trp)
n.4097A>T
n.824A>T
c.2893A>T (p.Arg965Trp)
c.2668A>T (p.Arg890Trp)
c.3763A>T (p.Arg1255Trp)
c.1736A>T
c.*1059A>T (n.*1059A>T)
n.4702A>T
n.3303A>T
c.3814A>T (p.Arg1272Trp)
c.3862A>T (p.Arg1288Trp)
c.3922A>T (p.Arg1308Trp)
c.3472A>T (p.Arg1158Trp)
c.1774A>T (p.Arg592Trp)
c.1591A>T (p.Arg531Trp)
c.3823A>T (p.Arg1275Trp)
c.3775A>T (p.Arg1259Trp)
c.3544A>T (p.Arg1182Trp)
c.3445A>T (p.Arg1149Trp)
c.2626A>T (p.Arg876Trp)
n.4177A>T
13g.51937339T>CCA388021086ATP7Bc.*1608A>G (n.*1608A>G)
c.*2702A>G (n.*2702A>G)
c.3337A>G (p.Arg1113Gly)
c.3958A>G (p.Arg1320Gly)
c.3625A>G (p.Arg1209Gly)
c.3706A>G (p.Arg1236Gly)
n.1281A>G
c.3724A>G (p.Arg1242Gly)
n.4097A>G
n.824A>G
c.2893A>G (p.Arg965Gly)
c.2668A>G (p.Arg890Gly)
c.3763A>G (p.Arg1255Gly)
c.1736A>G
c.*1059A>G (n.*1059A>G)
n.4702A>G
n.3303A>G
c.3814A>G (p.Arg1272Gly)
c.3862A>G (p.Arg1288Gly)
c.3922A>G (p.Arg1308Gly)
c.3472A>G (p.Arg1158Gly)
c.1774A>G (p.Arg592Gly)
c.1591A>G (p.Arg531Gly)
c.3823A>G (p.Arg1275Gly)
c.3775A>G (p.Arg1259Gly)
c.3544A>G (p.Arg1182Gly)
c.3445A>G (p.Arg1149Gly)
c.2626A>G (p.Arg876Gly)
n.4177A>G
 ClinVar dbSNP gnomAD v4
13g.51937339T>GCA483893501ATP7Bc.*1608A>C (n.*1608A>C)
c.*2702A>C (n.*2702A>C)
c.3337A>C (p.Arg1113=)
c.3958A>C (p.Arg1320=)
c.3625A>C (p.Arg1209=)
c.3706A>C (p.Arg1236=)
n.1281A>C
c.3724A>C (p.Arg1242=)
n.4097A>C
n.824A>C
c.2893A>C (p.Arg965=)
c.2668A>C (p.Arg890=)
c.3763A>C (p.Arg1255=)
c.1736A>C
c.*1059A>C (n.*1059A>C)
n.4702A>C
n.3303A>C
c.3814A>C (p.Arg1272=)
c.3862A>C (p.Arg1288=)
c.3922A>C (p.Arg1308=)
c.3472A>C (p.Arg1158=)
c.1774A>C (p.Arg592=)
c.1591A>C (p.Arg531=)
c.3823A>C (p.Arg1275=)
c.3775A>C (p.Arg1259=)
c.3544A>C (p.Arg1182=)
c.3445A>C (p.Arg1149=)
c.2626A>C (p.Arg876=)
n.4177A>C
13g.51937340T>ACA483893504ATP7Bc.*1607A>T (n.*1607A>T)
c.*2701A>T (n.*2701A>T)
c.3336A>T (p.Arg1112=)
c.3957A>T (p.Arg1319=)
c.3624A>T (p.Arg1208=)
c.3705A>T (p.Arg1235=)
n.1280A>T
c.3723A>T (p.Arg1241=)
n.4096A>T
n.823A>T
c.2892A>T (p.Arg964=)
c.2667A>T (p.Arg889=)
c.3762A>T (p.Arg1254=)
c.1735A>T
c.*1058A>T (n.*1058A>T)
n.4701A>T
n.3302A>T
c.3813A>T (p.Arg1271=)
c.3861A>T (p.Arg1287=)
c.3921A>T (p.Arg1307=)
c.3471A>T (p.Arg1157=)
c.1773A>T (p.Arg591=)
c.1590A>T (p.Arg530=)
c.3822A>T (p.Arg1274=)
c.3774A>T (p.Arg1258=)
c.3543A>T (p.Arg1181=)
c.3444A>T (p.Arg1148=)
c.2625A>T (p.Arg875=)
n.4176A>T
13g.51937340T>CCA483893502ATP7Bc.*1607A>G (n.*1607A>G)
c.*2701A>G (n.*2701A>G)
c.3336A>G (p.Arg1112=)
c.3957A>G (p.Arg1319=)
c.3624A>G (p.Arg1208=)
c.3705A>G (p.Arg1235=)
n.1280A>G
c.3723A>G (p.Arg1241=)
n.4096A>G
n.823A>G
c.2892A>G (p.Arg964=)
c.2667A>G (p.Arg889=)
c.3762A>G (p.Arg1254=)
c.1735A>G
c.*1058A>G (n.*1058A>G)
n.4701A>G
n.3302A>G
c.3813A>G (p.Arg1271=)
c.3861A>G (p.Arg1287=)
c.3921A>G (p.Arg1307=)
c.3471A>G (p.Arg1157=)
c.1773A>G (p.Arg591=)
c.1590A>G (p.Arg530=)
c.3822A>G (p.Arg1274=)
c.3774A>G (p.Arg1258=)
c.3543A>G (p.Arg1181=)
c.3444A>G (p.Arg1148=)
c.2625A>G (p.Arg875=)
n.4176A>G
13g.51937340T>GCA483893503ATP7Bc.*1607A>C (n.*1607A>C)
c.*2701A>C (n.*2701A>C)
c.3336A>C (p.Arg1112=)
c.3957A>C (p.Arg1319=)
c.3624A>C (p.Arg1208=)
c.3705A>C (p.Arg1235=)
n.1280A>C
c.3723A>C (p.Arg1241=)
n.4096A>C
n.823A>C
c.2892A>C (p.Arg964=)
c.2667A>C (p.Arg889=)
c.3762A>C (p.Arg1254=)
c.1735A>C
c.*1058A>C (n.*1058A>C)
n.4701A>C
n.3302A>C
c.3813A>C (p.Arg1271=)
c.3861A>C (p.Arg1287=)
c.3921A>C (p.Arg1307=)
c.3471A>C (p.Arg1157=)
c.1773A>C (p.Arg591=)
c.1590A>C (p.Arg530=)
c.3822A>C (p.Arg1274=)
c.3774A>C (p.Arg1258=)
c.3543A>C (p.Arg1181=)
c.3444A>C (p.Arg1148=)
c.2625A>C (p.Arg875=)
n.4176A>C
13g.51937341C>ACA388021088ATP7Bc.*1606G>T (n.*1606G>T)
c.*2700G>T (n.*2700G>T)
c.3335G>T (p.Arg1112Leu)
c.3956G>T (p.Arg1319Leu)
c.3623G>T (p.Arg1208Leu)
c.3704G>T (p.Arg1235Leu)
n.1279G>T
c.3722G>T (p.Arg1241Leu)
n.4095G>T
n.822G>T
c.2891G>T (p.Arg964Leu)
c.2666G>T (p.Arg889Leu)
c.3761G>T (p.Arg1254Leu)
c.1734G>T
c.*1057G>T (n.*1057G>T)
n.4700G>T
n.3301G>T
c.3812G>T (p.Arg1271Leu)
c.3860G>T (p.Arg1287Leu)
c.3920G>T (p.Arg1307Leu)
c.3470G>T (p.Arg1157Leu)
c.1772G>T (p.Arg591Leu)
c.1589G>T (p.Arg530Leu)
c.3821G>T (p.Arg1274Leu)
c.3773G>T (p.Arg1258Leu)
c.3542G>T (p.Arg1181Leu)
c.3443G>T (p.Arg1148Leu)
c.2624G>T (p.Arg875Leu)
n.4175G>T
13g.51937341C=CA2091553455ATP7Bc.*1606G= (n.*1606G=)
c.*2700G= (n.*2700G=)
c.3335G= (p.Arg1112=)
c.3956G= (p.Arg1319=)
c.3623G= (p.Arg1208=)
c.3704G= (p.Arg1235=)
n.1279G=
c.3722G= (p.Arg1241=)
n.4095G=
n.822G=
c.2891G= (p.Arg964=)
c.2666G= (p.Arg889=)
c.3761G= (p.Arg1254=)
c.1734G=
c.*1057G= (n.*1057G=)
n.4700G=
n.3301G=
c.3812G= (p.Arg1271=)
c.3860G= (p.Arg1287=)
c.3920G= (p.Arg1307=)
c.3470G= (p.Arg1157=)
c.1772G= (p.Arg591=)
c.1589G= (p.Arg530=)
c.3821G= (p.Arg1274=)
c.3773G= (p.Arg1258=)
c.3542G= (p.Arg1181=)
c.3443G= (p.Arg1148=)
c.2624G= (p.Arg875=)
n.4175G=
13g.51937341C>GCA388021089ATP7Bc.*1606G>C (n.*1606G>C)
c.*2700G>C (n.*2700G>C)
c.3335G>C (p.Arg1112Pro)
c.3956G>C (p.Arg1319Pro)
c.3623G>C (p.Arg1208Pro)
c.3704G>C (p.Arg1235Pro)
n.1279G>C
c.3722G>C (p.Arg1241Pro)
n.4095G>C
n.822G>C
c.2891G>C (p.Arg964Pro)
c.2666G>C (p.Arg889Pro)
c.3761G>C (p.Arg1254Pro)
c.1734G>C
c.*1057G>C (n.*1057G>C)
n.4700G>C
n.3301G>C
c.3812G>C (p.Arg1271Pro)
c.3860G>C (p.Arg1287Pro)
c.3920G>C (p.Arg1307Pro)
c.3470G>C (p.Arg1157Pro)
c.1772G>C (p.Arg591Pro)
c.1589G>C (p.Arg530Pro)
c.3821G>C (p.Arg1274Pro)
c.3773G>C (p.Arg1258Pro)
c.3542G>C (p.Arg1181Pro)
c.3443G>C (p.Arg1148Pro)
c.2624G>C (p.Arg875Pro)
n.4175G>C
13g.51937341C>TCA6988529ATP7Bc.*1606G>A (n.*1606G>A)
c.*2700G>A (n.*2700G>A)
c.3335G>A (p.Arg1112Gln)
c.3956G>A (p.Arg1319Gln)
c.3623G>A (p.Arg1208Gln)
c.3704G>A (p.Arg1235Gln)
n.1279G>A
c.3722G>A (p.Arg1241Gln)
n.4095G>A
n.822G>A
c.2891G>A (p.Arg964Gln)
c.2666G>A (p.Arg889Gln)
c.3761G>A (p.Arg1254Gln)
c.1734G>A
c.*1057G>A (n.*1057G>A)
n.4700G>A
n.3301G>A
c.3812G>A (p.Arg1271Gln)
c.3860G>A (p.Arg1287Gln)
c.3920G>A (p.Arg1307Gln)
c.3470G>A (p.Arg1157Gln)
c.1772G>A (p.Arg591Gln)
c.1589G>A (p.Arg530Gln)
c.3821G>A (p.Arg1274Gln)
c.3773G>A (p.Arg1258Gln)
c.3542G>A (p.Arg1181Gln)
c.3443G>A (p.Arg1148Gln)
c.2624G>A (p.Arg875Gln)
n.4175G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51937342G>ACA260148ATP7Bc.*1605C>T (n.*1605C>T)
c.*2699C>T (n.*2699C>T)
c.3334C>T (p.Arg1112Ter)
c.3955C>T (p.Arg1319Ter)
c.3622C>T (p.Arg1208Ter)
c.3703C>T (p.Arg1235Ter)
n.1278C>T
c.3721C>T (p.Arg1241Ter)
n.4094C>T
n.821C>T
c.2890C>T (p.Arg964Ter)
c.2665C>T (p.Arg889Ter)
c.3760C>T (p.Arg1254Ter)
c.1733C>T
c.*1056C>T (n.*1056C>T)
n.4699C>T
n.3300C>T
c.3811C>T (p.Arg1271Ter)
c.3859C>T (p.Arg1287Ter)
c.3919C>T (p.Arg1307Ter)
c.3469C>T (p.Arg1157Ter)
c.1771C>T (p.Arg591Ter)
c.1588C>T (p.Arg530Ter)
c.3820C>T (p.Arg1274Ter)
c.3772C>T (p.Arg1258Ter)
c.3541C>T (p.Arg1181Ter)
c.3442C>T (p.Arg1148Ter)
c.2623C>T (p.Arg875Ter)
n.4174C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51937342G>CCA388021090ATP7Bc.*1605C>G (n.*1605C>G)
c.*2699C>G (n.*2699C>G)
c.3334C>G (p.Arg1112Gly)
c.3955C>G (p.Arg1319Gly)
c.3622C>G (p.Arg1208Gly)
c.3703C>G (p.Arg1235Gly)
n.1278C>G
c.3721C>G (p.Arg1241Gly)
n.4094C>G
n.821C>G
c.2890C>G (p.Arg964Gly)
c.2665C>G (p.Arg889Gly)
c.3760C>G (p.Arg1254Gly)
c.1733C>G
c.*1056C>G (n.*1056C>G)
n.4699C>G
n.3300C>G
c.3811C>G (p.Arg1271Gly)
c.3859C>G (p.Arg1287Gly)
c.3919C>G (p.Arg1307Gly)
c.3469C>G (p.Arg1157Gly)
c.1771C>G (p.Arg591Gly)
c.1588C>G (p.Arg530Gly)
c.3820C>G (p.Arg1274Gly)
c.3772C>G (p.Arg1258Gly)
c.3541C>G (p.Arg1181Gly)
c.3442C>G (p.Arg1148Gly)
c.2623C>G (p.Arg875Gly)
n.4174C>G
 ClinVar
13g.51937342G=CA2091553456ATP7Bc.*1605C= (n.*1605C=)
c.*2699C= (n.*2699C=)
c.3334C= (p.Arg1112=)
c.3955C= (p.Arg1319=)
c.3622C= (p.Arg1208=)
c.3703C= (p.Arg1235=)
n.1278C=
c.3721C= (p.Arg1241=)
n.4094C=
n.821C=
c.2890C= (p.Arg964=)
c.2665C= (p.Arg889=)
c.3760C= (p.Arg1254=)
c.1733C=
c.*1056C= (n.*1056C=)
n.4699C=
n.3300C=
c.3811C= (p.Arg1271=)
c.3859C= (p.Arg1287=)
c.3919C= (p.Arg1307=)
c.3469C= (p.Arg1157=)
c.1771C= (p.Arg591=)
c.1588C= (p.Arg530=)
c.3820C= (p.Arg1274=)
c.3772C= (p.Arg1258=)
c.3541C= (p.Arg1181=)
c.3442C= (p.Arg1148=)
c.2623C= (p.Arg875=)
n.4174C=
13g.51937342G>TCA483893505ATP7Bc.*1605C>A (n.*1605C>A)
c.*2699C>A (n.*2699C>A)
c.3334C>A (p.Arg1112=)
c.3955C>A (p.Arg1319=)
c.3622C>A (p.Arg1208=)
c.3703C>A (p.Arg1235=)
n.1278C>A
c.3721C>A (p.Arg1241=)
n.4094C>A
n.821C>A
c.2890C>A (p.Arg964=)
c.2665C>A (p.Arg889=)
c.3760C>A (p.Arg1254=)
c.1733C>A
c.*1056C>A (n.*1056C>A)
n.4699C>A
n.3300C>A
c.3811C>A (p.Arg1271=)
c.3859C>A (p.Arg1287=)
c.3919C>A (p.Arg1307=)
c.3469C>A (p.Arg1157=)
c.1771C>A (p.Arg591=)
c.1588C>A (p.Arg530=)
c.3820C>A (p.Arg1274=)
c.3772C>A (p.Arg1258=)
c.3541C>A (p.Arg1181=)
c.3442C>A (p.Arg1148=)
c.2623C>A (p.Arg875=)
n.4174C>A
 ClinVar
13g.51937343G>ACA483893506ATP7Bc.*1604C>T (n.*1604C>T)
c.*2698C>T (n.*2698C>T)
c.3333C>T (p.Val1111=)
c.3954C>T (p.Val1318=)
c.3621C>T (p.Val1207=)
c.3702C>T (p.Val1234=)
n.1277C>T
c.3720C>T (p.Val1240=)
n.4093C>T
n.820C>T
c.2889C>T (p.Val963=)
c.2664C>T (p.Val888=)
c.3759C>T (p.Val1253=)
c.1732C>T
c.*1055C>T (n.*1055C>T)
n.4698C>T
n.3299C>T
c.3810C>T (p.Val1270=)
c.3858C>T (p.Val1286=)
c.3918C>T (p.Val1306=)
c.3468C>T (p.Val1156=)
c.1770C>T (p.Val590=)
c.1587C>T (p.Val529=)
c.3819C>T (p.Val1273=)
c.3771C>T (p.Val1257=)
c.3540C>T (p.Val1180=)
c.3441C>T (p.Val1147=)
c.2622C>T (p.Val874=)
n.4173C>T
 ClinVar
13g.51937343G>CCA483893507ATP7Bc.*1604C>G (n.*1604C>G)
c.*2698C>G (n.*2698C>G)
c.3333C>G (p.Val1111=)
c.3954C>G (p.Val1318=)
c.3621C>G (p.Val1207=)
c.3702C>G (p.Val1234=)
n.1277C>G
c.3720C>G (p.Val1240=)
n.4093C>G
n.820C>G
c.2889C>G (p.Val963=)
c.2664C>G (p.Val888=)
c.3759C>G (p.Val1253=)
c.1732C>G
c.*1055C>G (n.*1055C>G)
n.4698C>G
n.3299C>G
c.3810C>G (p.Val1270=)
c.3858C>G (p.Val1286=)
c.3918C>G (p.Val1306=)
c.3468C>G (p.Val1156=)
c.1770C>G (p.Val590=)
c.1587C>G (p.Val529=)
c.3819C>G (p.Val1273=)
c.3771C>G (p.Val1257=)
c.3540C>G (p.Val1180=)
c.3441C>G (p.Val1147=)
c.2622C>G (p.Val874=)
n.4173C>G
13g.51937343G>TCA483893508ATP7Bc.*1604C>A (n.*1604C>A)
c.*2698C>A (n.*2698C>A)
c.3333C>A (p.Val1111=)
c.3954C>A (p.Val1318=)
c.3621C>A (p.Val1207=)
c.3702C>A (p.Val1234=)
n.1277C>A
c.3720C>A (p.Val1240=)
n.4093C>A
n.820C>A
c.2889C>A (p.Val963=)
c.2664C>A (p.Val888=)
c.3759C>A (p.Val1253=)
c.1732C>A
c.*1055C>A (n.*1055C>A)
n.4698C>A
n.3299C>A
c.3810C>A (p.Val1270=)
c.3858C>A (p.Val1286=)
c.3918C>A (p.Val1306=)
c.3468C>A (p.Val1156=)
c.1770C>A (p.Val590=)
c.1587C>A (p.Val529=)
c.3819C>A (p.Val1273=)
c.3771C>A (p.Val1257=)
c.3540C>A (p.Val1180=)
c.3441C>A (p.Val1147=)
c.2622C>A (p.Val874=)
n.4173C>A
 ClinVar dbSNP
13g.51937344A>CCA388021091ATP7Bc.*1603T>G (n.*1603T>G)
c.*2697T>G (n.*2697T>G)
c.3332T>G (p.Val1111Gly)
c.3953T>G (p.Val1318Gly)
c.3620T>G (p.Val1207Gly)
c.3701T>G (p.Val1234Gly)
n.1276T>G
c.3719T>G (p.Val1240Gly)
n.4092T>G
n.819T>G
c.2888T>G (p.Val963Gly)
c.2663T>G (p.Val888Gly)
c.3758T>G (p.Val1253Gly)
c.1731T>G
c.*1054T>G (n.*1054T>G)
n.4697T>G
n.3298T>G
c.3809T>G (p.Val1270Gly)
c.3857T>G (p.Val1286Gly)
c.3917T>G (p.Val1306Gly)
c.3467T>G (p.Val1156Gly)
c.1769T>G (p.Val590Gly)
c.1586T>G (p.Val529Gly)
c.3818T>G (p.Val1273Gly)
c.3770T>G (p.Val1257Gly)
c.3539T>G (p.Val1180Gly)
c.3440T>G (p.Val1147Gly)
c.2621T>G (p.Val874Gly)
n.4172T>G
13g.51937344A>GCA388021093ATP7Bc.*1603T>C (n.*1603T>C)
c.*2697T>C (n.*2697T>C)
c.3332T>C (p.Val1111Ala)
c.3953T>C (p.Val1318Ala)
c.3620T>C (p.Val1207Ala)
c.3701T>C (p.Val1234Ala)
n.1276T>C
c.3719T>C (p.Val1240Ala)
n.4092T>C
n.819T>C
c.2888T>C (p.Val963Ala)
c.2663T>C (p.Val888Ala)
c.3758T>C (p.Val1253Ala)
c.1731T>C
c.*1054T>C (n.*1054T>C)
n.4697T>C
n.3298T>C
c.3809T>C (p.Val1270Ala)
c.3857T>C (p.Val1286Ala)
c.3917T>C (p.Val1306Ala)
c.3467T>C (p.Val1156Ala)
c.1769T>C (p.Val590Ala)
c.1586T>C (p.Val529Ala)
c.3818T>C (p.Val1273Ala)
c.3770T>C (p.Val1257Ala)
c.3539T>C (p.Val1180Ala)
c.3440T>C (p.Val1147Ala)
c.2621T>C (p.Val874Ala)
n.4172T>C
 gnomAD v4
13g.51937344A>TCA388021095ATP7Bc.*1603T>A (n.*1603T>A)
c.*2697T>A (n.*2697T>A)
c.3332T>A (p.Val1111Asp)
c.3953T>A (p.Val1318Asp)
c.3620T>A (p.Val1207Asp)
c.3701T>A (p.Val1234Asp)
n.1276T>A
c.3719T>A (p.Val1240Asp)
n.4092T>A
n.819T>A
c.2888T>A (p.Val963Asp)
c.2663T>A (p.Val888Asp)
c.3758T>A (p.Val1253Asp)
c.1731T>A
c.*1054T>A (n.*1054T>A)
n.4697T>A
n.3298T>A
c.3809T>A (p.Val1270Asp)
c.3857T>A (p.Val1286Asp)
c.3917T>A (p.Val1306Asp)
c.3467T>A (p.Val1156Asp)
c.1769T>A (p.Val590Asp)
c.1586T>A (p.Val529Asp)
c.3818T>A (p.Val1273Asp)
c.3770T>A (p.Val1257Asp)
c.3539T>A (p.Val1180Asp)
c.3440T>A (p.Val1147Asp)
c.2621T>A (p.Val874Asp)
n.4172T>A
13g.51937345delCA2575420456ATP7Bc.*1602del (n.*1602del)
c.*2696del (n.*2696del)
c.3331del (p.Val1111SerfsTer12)
c.3952del (p.Val1318SerfsTer12)
c.3619del (p.Val1207SerfsTer12)
c.3700del (p.Val1234SerfsTer12)
n.1275del
c.3718del (p.Val1240SerfsTer12)
n.4091del
n.818del
c.2887del (p.Val963SerfsTer12)
c.2662del (p.Val888SerfsTer12)
c.3757del (p.Val1253SerfsTer12)
c.1730del
c.*1053del (n.*1053del)
n.4696del
n.3297del
c.3808del (p.Val1270SerfsTer12)
c.3856del (p.Val1286SerfsTer12)
c.3916del (p.Val1306SerfsTer12)
c.3466del (p.Val1156SerfsTer12)
c.1768del (p.Val590SerfsTer12)
c.1585del (p.Val529SerfsTer12)
c.3817del (p.Val1273SerfsTer12)
c.3769del (p.Val1257SerfsTer12)
c.3538del (p.Val1180SerfsTer12)
c.3439del (p.Val1147SerfsTer12)
c.2620del (p.Val874SerfsTer12)
n.4171del
13g.51937345C>ACA388021097ATP7Bc.*1602G>T (n.*1602G>T)
c.*2696G>T (n.*2696G>T)
c.3331G>T (p.Val1111Phe)
c.3952G>T (p.Val1318Phe)
c.3619G>T (p.Val1207Phe)
c.3700G>T (p.Val1234Phe)
n.1275G>T
c.3718G>T (p.Val1240Phe)
n.4091G>T
n.818G>T
c.2887G>T (p.Val963Phe)
c.2662G>T (p.Val888Phe)
c.3757G>T (p.Val1253Phe)
c.1730G>T
c.*1053G>T (n.*1053G>T)
n.4696G>T
n.3297G>T
c.3808G>T (p.Val1270Phe)
c.3856G>T (p.Val1286Phe)
c.3916G>T (p.Val1306Phe)
c.3466G>T (p.Val1156Phe)
c.1768G>T (p.Val590Phe)
c.1585G>T (p.Val529Phe)
c.3817G>T (p.Val1273Phe)
c.3769G>T (p.Val1257Phe)
c.3538G>T (p.Val1180Phe)
c.3439G>T (p.Val1147Phe)
c.2620G>T (p.Val874Phe)
n.4171G>T
13g.51937345C=CA2091553459ATP7Bc.*1602G= (n.*1602G=)
c.*2696G= (n.*2696G=)
c.3331G= (p.Val1111=)
c.3952G= (p.Val1318=)
c.3619G= (p.Val1207=)
c.3700G= (p.Val1234=)
n.1275G=
c.3718G= (p.Val1240=)
n.4091G=
n.818G=
c.2887G= (p.Val963=)
c.2662G= (p.Val888=)
c.3757G= (p.Val1253=)
c.1730G=
c.*1053G= (n.*1053G=)
n.4696G=
n.3297G=
c.3808G= (p.Val1270=)
c.3856G= (p.Val1286=)
c.3916G= (p.Val1306=)
c.3466G= (p.Val1156=)
c.1768G= (p.Val590=)
c.1585G= (p.Val529=)
c.3817G= (p.Val1273=)
c.3769G= (p.Val1257=)
c.3538G= (p.Val1180=)
c.3439G= (p.Val1147=)
c.2620G= (p.Val874=)
n.4171G=
13g.51937345C>GCA388021100ATP7Bc.*1602G>C (n.*1602G>C)
c.*2696G>C (n.*2696G>C)
c.3331G>C (p.Val1111Leu)
c.3952G>C (p.Val1318Leu)
c.3619G>C (p.Val1207Leu)
c.3700G>C (p.Val1234Leu)
n.1275G>C
c.3718G>C (p.Val1240Leu)
n.4091G>C
n.818G>C
c.2887G>C (p.Val963Leu)
c.2662G>C (p.Val888Leu)
c.3757G>C (p.Val1253Leu)
c.1730G>C
c.*1053G>C (n.*1053G>C)
n.4696G>C
n.3297G>C
c.3808G>C (p.Val1270Leu)
c.3856G>C (p.Val1286Leu)
c.3916G>C (p.Val1306Leu)
c.3466G>C (p.Val1156Leu)
c.1768G>C (p.Val590Leu)
c.1585G>C (p.Val529Leu)
c.3817G>C (p.Val1273Leu)
c.3769G>C (p.Val1257Leu)
c.3538G>C (p.Val1180Leu)
c.3439G>C (p.Val1147Leu)
c.2620G>C (p.Val874Leu)
n.4171G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51937345C>TCA388021103ATP7Bc.*1602G>A (n.*1602G>A)
c.*2696G>A (n.*2696G>A)
c.3331G>A (p.Val1111Ile)
c.3952G>A (p.Val1318Ile)
c.3619G>A (p.Val1207Ile)
c.3700G>A (p.Val1234Ile)
n.1275G>A
c.3718G>A (p.Val1240Ile)
n.4091G>A
n.818G>A
c.2887G>A (p.Val963Ile)
c.2662G>A (p.Val888Ile)
c.3757G>A (p.Val1253Ile)
c.1730G>A
c.*1053G>A (n.*1053G>A)
n.4696G>A
n.3297G>A
c.3808G>A (p.Val1270Ile)
c.3856G>A (p.Val1286Ile)
c.3916G>A (p.Val1306Ile)
c.3466G>A (p.Val1156Ile)
c.1768G>A (p.Val590Ile)
c.1585G>A (p.Val529Ile)
c.3817G>A (p.Val1273Ile)
c.3769G>A (p.Val1257Ile)
c.3538G>A (p.Val1180Ile)
c.3439G>A (p.Val1147Ile)
c.2620G>A (p.Val874Ile)
n.4171G>A
13g.51937346A=CA2091553463ATP7Bc.*1601T= (n.*1601T=)
c.*2695T= (n.*2695T=)
c.3330T= (p.Thr1110=)
c.3951T= (p.Thr1317=)
c.3618T= (p.Thr1206=)
c.3699T= (p.Thr1233=)
n.1274T=
c.3717T= (p.Thr1239=)
n.4090T=
n.817T=
c.2886T= (p.Thr962=)
c.2661T= (p.Thr887=)
c.3756T= (p.Thr1252=)
c.1729T=
c.*1052T= (n.*1052T=)
n.4695T=
n.3296T=
c.3807T= (p.Thr1269=)
c.3855T= (p.Thr1285=)
c.3915T= (p.Thr1305=)
c.3465T= (p.Thr1155=)
c.1767T= (p.Thr589=)
c.1584T= (p.Thr528=)
c.3816T= (p.Thr1272=)
c.3768T= (p.Thr1256=)
c.3537T= (p.Thr1179=)
c.3438T= (p.Thr1146=)
c.2619T= (p.Thr873=)
n.4170T=
13g.51937346A>CCA483893509ATP7Bc.*1601T>G (n.*1601T>G)
c.*2695T>G (n.*2695T>G)
c.3330T>G (p.Thr1110=)
c.3951T>G (p.Thr1317=)
c.3618T>G (p.Thr1206=)
c.3699T>G (p.Thr1233=)
n.1274T>G
c.3717T>G (p.Thr1239=)
n.4090T>G
n.817T>G
c.2886T>G (p.Thr962=)
c.2661T>G (p.Thr887=)
c.3756T>G (p.Thr1252=)
c.1729T>G
c.*1052T>G (n.*1052T>G)
n.4695T>G
n.3296T>G
c.3807T>G (p.Thr1269=)
c.3855T>G (p.Thr1285=)
c.3915T>G (p.Thr1305=)
c.3465T>G (p.Thr1155=)
c.1767T>G (p.Thr589=)
c.1584T>G (p.Thr528=)
c.3816T>G (p.Thr1272=)
c.3768T>G (p.Thr1256=)
c.3537T>G (p.Thr1179=)
c.3438T>G (p.Thr1146=)
c.2619T>G (p.Thr873=)
n.4170T>G
13g.51937346A>GCA6988530ATP7Bc.*1601T>C (n.*1601T>C)
c.*2695T>C (n.*2695T>C)
c.3330T>C (p.Thr1110=)
c.3951T>C (p.Thr1317=)
c.3618T>C (p.Thr1206=)
c.3699T>C (p.Thr1233=)
n.1274T>C
c.3717T>C (p.Thr1239=)
n.4090T>C
n.817T>C
c.2886T>C (p.Thr962=)
c.2661T>C (p.Thr887=)
c.3756T>C (p.Thr1252=)
c.1729T>C
c.*1052T>C (n.*1052T>C)
n.4695T>C
n.3296T>C
c.3807T>C (p.Thr1269=)
c.3855T>C (p.Thr1285=)
c.3915T>C (p.Thr1305=)
c.3465T>C (p.Thr1155=)
c.1767T>C (p.Thr589=)
c.1584T>C (p.Thr528=)
c.3816T>C (p.Thr1272=)
c.3768T>C (p.Thr1256=)
c.3537T>C (p.Thr1179=)
c.3438T>C (p.Thr1146=)
c.2619T>C (p.Thr873=)
n.4170T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937346A>TCA483893510ATP7Bc.*1601T>A (n.*1601T>A)
c.*2695T>A (n.*2695T>A)
c.3330T>A (p.Thr1110=)
c.3951T>A (p.Thr1317=)
c.3618T>A (p.Thr1206=)
c.3699T>A (p.Thr1233=)
n.1274T>A
c.3717T>A (p.Thr1239=)
n.4090T>A
n.817T>A
c.2886T>A (p.Thr962=)
c.2661T>A (p.Thr887=)
c.3756T>A (p.Thr1252=)
c.1729T>A
c.*1052T>A (n.*1052T>A)
n.4695T>A
n.3296T>A
c.3807T>A (p.Thr1269=)
c.3855T>A (p.Thr1285=)
c.3915T>A (p.Thr1305=)
c.3465T>A (p.Thr1155=)
c.1767T>A (p.Thr589=)
c.1584T>A (p.Thr528=)
c.3816T>A (p.Thr1272=)
c.3768T>A (p.Thr1256=)
c.3537T>A (p.Thr1179=)
c.3438T>A (p.Thr1146=)
c.2619T>A (p.Thr873=)
n.4170T>A
13g.51937347G>ACA388021106ATP7Bc.*1600C>T (n.*1600C>T)
c.*2694C>T (n.*2694C>T)
c.3329C>T (p.Thr1110Ile)
c.3950C>T (p.Thr1317Ile)
c.3617C>T (p.Thr1206Ile)
c.3698C>T (p.Thr1233Ile)
n.1273C>T
c.3716C>T (p.Thr1239Ile)
n.4089C>T
n.816C>T
c.2885C>T (p.Thr962Ile)
c.2660C>T (p.Thr887Ile)
c.3755C>T (p.Thr1252Ile)
c.1728C>T
c.*1051C>T (n.*1051C>T)
n.4694C>T
n.3295C>T
c.3806C>T (p.Thr1269Ile)
c.3854C>T (p.Thr1285Ile)
c.3914C>T (p.Thr1305Ile)
c.3464C>T (p.Thr1155Ile)
c.1766C>T (p.Thr589Ile)
c.1583C>T (p.Thr528Ile)
c.3815C>T (p.Thr1272Ile)
c.3767C>T (p.Thr1256Ile)
c.3536C>T (p.Thr1179Ile)
c.3437C>T (p.Thr1146Ile)
c.2618C>T (p.Thr873Ile)
n.4169C>T
 dbSNP gnomAD v2 gnomAD v4
13g.51937347G>CCA388021109ATP7Bc.*1600C>G (n.*1600C>G)
c.*2694C>G (n.*2694C>G)
c.3329C>G (p.Thr1110Ser)
c.3950C>G (p.Thr1317Ser)
c.3617C>G (p.Thr1206Ser)
c.3698C>G (p.Thr1233Ser)
n.1273C>G
c.3716C>G (p.Thr1239Ser)
n.4089C>G
n.816C>G
c.2885C>G (p.Thr962Ser)
c.2660C>G (p.Thr887Ser)
c.3755C>G (p.Thr1252Ser)
c.1728C>G
c.*1051C>G (n.*1051C>G)
n.4694C>G
n.3295C>G
c.3806C>G (p.Thr1269Ser)
c.3854C>G (p.Thr1285Ser)
c.3914C>G (p.Thr1305Ser)
c.3464C>G (p.Thr1155Ser)
c.1766C>G (p.Thr589Ser)
c.1583C>G (p.Thr528Ser)
c.3815C>G (p.Thr1272Ser)
c.3767C>G (p.Thr1256Ser)
c.3536C>G (p.Thr1179Ser)
c.3437C>G (p.Thr1146Ser)
c.2618C>G (p.Thr873Ser)
n.4169C>G
13g.51937347G=CA2091553465ATP7Bc.*1600C= (n.*1600C=)
c.*2694C= (n.*2694C=)
c.3329C= (p.Thr1110=)
c.3950C= (p.Thr1317=)
c.3617C= (p.Thr1206=)
c.3698C= (p.Thr1233=)
n.1273C=
c.3716C= (p.Thr1239=)
n.4089C=
n.816C=
c.2885C= (p.Thr962=)
c.2660C= (p.Thr887=)
c.3755C= (p.Thr1252=)
c.1728C=
c.*1051C= (n.*1051C=)
n.4694C=
n.3295C=
c.3806C= (p.Thr1269=)
c.3854C= (p.Thr1285=)
c.3914C= (p.Thr1305=)
c.3464C= (p.Thr1155=)
c.1766C= (p.Thr589=)
c.1583C= (p.Thr528=)
c.3815C= (p.Thr1272=)
c.3767C= (p.Thr1256=)
c.3536C= (p.Thr1179=)
c.3437C= (p.Thr1146=)
c.2618C= (p.Thr873=)
n.4169C=
13g.51937347G>TCA388021112ATP7Bc.*1600C>A (n.*1600C>A)
c.*2694C>A (n.*2694C>A)
c.3329C>A (p.Thr1110Asn)
c.3950C>A (p.Thr1317Asn)
c.3617C>A (p.Thr1206Asn)
c.3698C>A (p.Thr1233Asn)
n.1273C>A
c.3716C>A (p.Thr1239Asn)
n.4089C>A
n.816C>A
c.2885C>A (p.Thr962Asn)
c.2660C>A (p.Thr887Asn)
c.3755C>A (p.Thr1252Asn)
c.1728C>A
c.*1051C>A (n.*1051C>A)
n.4694C>A
n.3295C>A
c.3806C>A (p.Thr1269Asn)
c.3854C>A (p.Thr1285Asn)
c.3914C>A (p.Thr1305Asn)
c.3464C>A (p.Thr1155Asn)
c.1766C>A (p.Thr589Asn)
c.1583C>A (p.Thr528Asn)
c.3815C>A (p.Thr1272Asn)
c.3767C>A (p.Thr1256Asn)
c.3536C>A (p.Thr1179Asn)
c.3437C>A (p.Thr1146Asn)
c.2618C>A (p.Thr873Asn)
n.4169C>A
13g.51937348T>ACA388021116ATP7Bc.*1599A>T (n.*1599A>T)
c.*2693A>T (n.*2693A>T)
c.3328A>T (p.Thr1110Ser)
c.3949A>T (p.Thr1317Ser)
c.3616A>T (p.Thr1206Ser)
c.3697A>T (p.Thr1233Ser)
n.1272A>T
c.3715A>T (p.Thr1239Ser)
n.4088A>T
n.815A>T
c.2884A>T (p.Thr962Ser)
c.2659A>T (p.Thr887Ser)
c.3754A>T (p.Thr1252Ser)
c.1727A>T
c.*1050A>T (n.*1050A>T)
n.4693A>T
n.3294A>T
c.3805A>T (p.Thr1269Ser)
c.3853A>T (p.Thr1285Ser)
c.3913A>T (p.Thr1305Ser)
c.3463A>T (p.Thr1155Ser)
c.1765A>T (p.Thr589Ser)
c.1582A>T (p.Thr528Ser)
c.3814A>T (p.Thr1272Ser)
c.3766A>T (p.Thr1256Ser)
c.3535A>T (p.Thr1179Ser)
c.3436A>T (p.Thr1146Ser)
c.2617A>T (p.Thr873Ser)
n.4168A>T
13g.51937348T>CCA6988531ATP7Bc.*1599A>G (n.*1599A>G)
c.*2693A>G (n.*2693A>G)
c.3328A>G (p.Thr1110Ala)
c.3949A>G (p.Thr1317Ala)
c.3616A>G (p.Thr1206Ala)
c.3697A>G (p.Thr1233Ala)
n.1272A>G
c.3715A>G (p.Thr1239Ala)
n.4088A>G
n.815A>G
c.2884A>G (p.Thr962Ala)
c.2659A>G (p.Thr887Ala)
c.3754A>G (p.Thr1252Ala)
c.1727A>G
c.*1050A>G (n.*1050A>G)
n.4693A>G
n.3294A>G
c.3805A>G (p.Thr1269Ala)
c.3853A>G (p.Thr1285Ala)
c.3913A>G (p.Thr1305Ala)
c.3463A>G (p.Thr1155Ala)
c.1765A>G (p.Thr589Ala)
c.1582A>G (p.Thr528Ala)
c.3814A>G (p.Thr1272Ala)
c.3766A>G (p.Thr1256Ala)
c.3535A>G (p.Thr1179Ala)
c.3436A>G (p.Thr1146Ala)
c.2617A>G (p.Thr873Ala)
n.4168A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51937348T>GCA388021115ATP7Bc.*1599A>C (n.*1599A>C)
c.*2693A>C (n.*2693A>C)
c.3328A>C (p.Thr1110Pro)
c.3949A>C (p.Thr1317Pro)
c.3616A>C (p.Thr1206Pro)
c.3697A>C (p.Thr1233Pro)
n.1272A>C
c.3715A>C (p.Thr1239Pro)
n.4088A>C
n.815A>C
c.2884A>C (p.Thr962Pro)
c.2659A>C (p.Thr887Pro)
c.3754A>C (p.Thr1252Pro)
c.1727A>C
c.*1050A>C (n.*1050A>C)
n.4693A>C
n.3294A>C
c.3805A>C (p.Thr1269Pro)
c.3853A>C (p.Thr1285Pro)
c.3913A>C (p.Thr1305Pro)
c.3463A>C (p.Thr1155Pro)
c.1765A>C (p.Thr589Pro)
c.1582A>C (p.Thr528Pro)
c.3814A>C (p.Thr1272Pro)
c.3766A>C (p.Thr1256Pro)
c.3535A>C (p.Thr1179Pro)
c.3436A>C (p.Thr1146Pro)
c.2617A>C (p.Thr873Pro)
n.4168A>C
13g.51937348T=CA2091553469ATP7Bc.*1599A= (n.*1599A=)
c.*2693A= (n.*2693A=)
c.3328A= (p.Thr1110=)
c.3949A= (p.Thr1317=)
c.3616A= (p.Thr1206=)
c.3697A= (p.Thr1233=)
n.1272A=
c.3715A= (p.Thr1239=)
n.4088A=
n.815A=
c.2884A= (p.Thr962=)
c.2659A= (p.Thr887=)
c.3754A= (p.Thr1252=)
c.1727A=
c.*1050A= (n.*1050A=)
n.4693A=
n.3294A=
c.3805A= (p.Thr1269=)
c.3853A= (p.Thr1285=)
c.3913A= (p.Thr1305=)
c.3463A= (p.Thr1155=)
c.1765A= (p.Thr589=)
c.1582A= (p.Thr528=)
c.3814A= (p.Thr1272=)
c.3766A= (p.Thr1256=)
c.3535A= (p.Thr1179=)
c.3436A= (p.Thr1146=)
c.2617A= (p.Thr873=)
n.4168A=
13g.51937348_51937349delinsTCCA2091553470ATP7Bc.*1598_*1599delinsGA (n.*1598_*1599delinsGA)
c.*2692_*2693delinsGA (n.*2692_*2693delinsGA)
c.3327_3328delinsGA (p.Arg1109=)
c.3948_3949delinsGA (p.Arg1316=)
c.3615_3616delinsGA (p.Arg1205=)
c.3696_3697delinsGA (p.Arg1232=)
n.1271_1272delinsGA
c.3714_3715delinsGA (p.Arg1238=)
n.4087_4088delinsGA
n.814_815delinsGA
c.2883_2884delinsGA (p.Arg961=)
c.2658_2659delinsGA (p.Arg886=)
c.3753_3754delinsGA (p.Arg1251=)
c.1726_1727delinsGA
c.*1049_*1050delinsGA (n.*1049_*1050delinsGA)
n.4692_4693delinsGA
n.3293_3294delinsGA
c.3804_3805delinsGA (p.Arg1268=)
c.3852_3853delinsGA (p.Arg1284=)
c.3912_3913delinsGA (p.Arg1304=)
c.3462_3463delinsGA (p.Arg1154=)
c.1764_1765delinsGA (p.Arg588=)
c.1581_1582delinsGA (p.Arg527=)
c.3813_3814delinsGA (p.Arg1271=)
c.3765_3766delinsGA (p.Arg1255=)
c.3534_3535delinsGA (p.Arg1178=)
c.3435_3436delinsGA (p.Arg1145=)
c.2616_2617delinsGA (p.Arg872=)
n.4167_4168delinsGA
13g.51937349C>ACA388021117ATP7Bc.*1598G>T (n.*1598G>T)
c.*2692G>T (n.*2692G>T)
c.3327G>T (p.Arg1109Ser)
c.3948G>T (p.Arg1316Ser)
c.3615G>T (p.Arg1205Ser)
c.3696G>T (p.Arg1232Ser)
n.1271G>T
c.3714G>T (p.Arg1238Ser)
n.4087G>T
n.814G>T
c.2883G>T (p.Arg961Ser)
c.2658G>T (p.Arg886Ser)
c.3753G>T (p.Arg1251Ser)
c.1726G>T
c.*1049G>T (n.*1049G>T)
n.4692G>T
n.3293G>T
c.3804G>T (p.Arg1268Ser)
c.3852G>T (p.Arg1284Ser)
c.3912G>T (p.Arg1304Ser)
c.3462G>T (p.Arg1154Ser)
c.1764G>T (p.Arg588Ser)
c.1581G>T (p.Arg527Ser)
c.3813G>T (p.Arg1271Ser)
c.3765G>T (p.Arg1255Ser)
c.3534G>T (p.Arg1178Ser)
c.3435G>T (p.Arg1145Ser)
c.2616G>T (p.Arg872Ser)
n.4167G>T
13g.51937349C>GCA388021118ATP7Bc.*1598G>C (n.*1598G>C)
c.*2692G>C (n.*2692G>C)
c.3327G>C (p.Arg1109Ser)
c.3948G>C (p.Arg1316Ser)
c.3615G>C (p.Arg1205Ser)
c.3696G>C (p.Arg1232Ser)
n.1271G>C
c.3714G>C (p.Arg1238Ser)
n.4087G>C
n.814G>C
c.2883G>C (p.Arg961Ser)
c.2658G>C (p.Arg886Ser)
c.3753G>C (p.Arg1251Ser)
c.1726G>C
c.*1049G>C (n.*1049G>C)
n.4692G>C
n.3293G>C
c.3804G>C (p.Arg1268Ser)
c.3852G>C (p.Arg1284Ser)
c.3912G>C (p.Arg1304Ser)
c.3462G>C (p.Arg1154Ser)
c.1764G>C (p.Arg588Ser)
c.1581G>C (p.Arg527Ser)
c.3813G>C (p.Arg1271Ser)
c.3765G>C (p.Arg1255Ser)
c.3534G>C (p.Arg1178Ser)
c.3435G>C (p.Arg1145Ser)
c.2616G>C (p.Arg872Ser)
n.4167G>C
13g.51937349C>TCA484024237ATP7Bc.*1598G>A (n.*1598G>A)
c.*2692G>A (n.*2692G>A)
c.3327G>A (p.Arg1109=)
c.3948G>A (p.Arg1316=)
c.3615G>A (p.Arg1205=)
c.3696G>A (p.Arg1232=)
n.1271G>A
c.3714G>A (p.Arg1238=)
n.4087G>A
n.814G>A
c.2883G>A (p.Arg961=)
c.2658G>A (p.Arg886=)
c.3753G>A (p.Arg1251=)
c.1726G>A
c.*1049G>A (n.*1049G>A)
n.4692G>A
n.3293G>A
c.3804G>A (p.Arg1268=)
c.3852G>A (p.Arg1284=)
c.3912G>A (p.Arg1304=)
c.3462G>A (p.Arg1154=)
c.1764G>A (p.Arg588=)
c.1581G>A (p.Arg527=)
c.3813G>A (p.Arg1271=)
c.3765G>A (p.Arg1255=)
c.3534G>A (p.Arg1178=)
c.3435G>A (p.Arg1145=)
c.2616G>A (p.Arg872=)
n.4167G>A
13g.51937350delCA16041661ATP7Bc.*1598del (n.*1598del)
c.*2692del (n.*2692del)
c.3327del (p.Thr1110LeufsTer13)
c.3948del (p.Thr1317LeufsTer13)
c.3615del (p.Thr1206LeufsTer13)
c.3696del (p.Thr1233LeufsTer13)
n.1271del
c.3714del (p.Thr1239LeufsTer13)
n.4087del
n.814del
c.2883del (p.Thr962LeufsTer13)
c.2658del (p.Thr887LeufsTer13)
c.3753del (p.Thr1252LeufsTer13)
c.1726del
c.*1049del (n.*1049del)
n.4692del
n.3293del
c.3804del (p.Thr1269LeufsTer13)
c.3852del (p.Thr1285LeufsTer13)
c.3912del (p.Thr1305LeufsTer13)
c.3462del (p.Thr1155LeufsTer13)
c.1764del (p.Thr589LeufsTer13)
c.1581del (p.Thr528LeufsTer13)
c.3813del (p.Thr1272LeufsTer13)
c.3765del (p.Thr1256LeufsTer13)
c.3534del (p.Thr1179LeufsTer13)
c.3435del (p.Thr1146LeufsTer13)
c.2616del (p.Thr873LeufsTer13)
n.4167del
 ClinVar dbSNP gnomAD v4
13g.51937350C>ACA388021119ATP7Bc.*1597G>T (n.*1597G>T)
c.*2691G>T (n.*2691G>T)
c.3326G>T (p.Arg1109Met)
c.3947G>T (p.Arg1316Met)
c.3614G>T (p.Arg1205Met)
c.3695G>T (p.Arg1232Met)
n.1270G>T
c.3713G>T (p.Arg1238Met)
n.4086G>T
n.813G>T
c.2882G>T (p.Arg961Met)
c.2657G>T (p.Arg886Met)
c.3752G>T (p.Arg1251Met)
c.1725G>T
c.*1048G>T (n.*1048G>T)
n.4691G>T
n.3292G>T
c.3803G>T (p.Arg1268Met)
c.3851G>T (p.Arg1284Met)
c.3911G>T (p.Arg1304Met)
c.3461G>T (p.Arg1154Met)
c.1763G>T (p.Arg588Met)
c.1580G>T (p.Arg527Met)
c.3812G>T (p.Arg1271Met)
c.3764G>T (p.Arg1255Met)
c.3533G>T (p.Arg1178Met)
c.3434G>T (p.Arg1145Met)
c.2615G>T (p.Arg872Met)
n.4166G>T
13g.51937350C=CA2091553479ATP7Bc.*1597G= (n.*1597G=)
c.*2691G= (n.*2691G=)
c.3326G= (p.Arg1109=)
c.3947G= (p.Arg1316=)
c.3614G= (p.Arg1205=)
c.3695G= (p.Arg1232=)
n.1270G=
c.3713G= (p.Arg1238=)
n.4086G=
n.813G=
c.2882G= (p.Arg961=)
c.2657G= (p.Arg886=)
c.3752G= (p.Arg1251=)
c.1725G=
c.*1048G= (n.*1048G=)
n.4691G=
n.3292G=
c.3803G= (p.Arg1268=)
c.3851G= (p.Arg1284=)
c.3911G= (p.Arg1304=)
c.3461G= (p.Arg1154=)
c.1763G= (p.Arg588=)
c.1580G= (p.Arg527=)
c.3812G= (p.Arg1271=)
c.3764G= (p.Arg1255=)
c.3533G= (p.Arg1178=)
c.3434G= (p.Arg1145=)
c.2615G= (p.Arg872=)
n.4166G=
13g.51937350C>GCA388021121ATP7Bc.*1597G>C (n.*1597G>C)
c.*2691G>C (n.*2691G>C)
c.3326G>C (p.Arg1109Thr)
c.3947G>C (p.Arg1316Thr)
c.3614G>C (p.Arg1205Thr)
c.3695G>C (p.Arg1232Thr)
n.1270G>C
c.3713G>C (p.Arg1238Thr)
n.4086G>C
n.813G>C
c.2882G>C (p.Arg961Thr)
c.2657G>C (p.Arg886Thr)
c.3752G>C (p.Arg1251Thr)
c.1725G>C
c.*1048G>C (n.*1048G>C)
n.4691G>C
n.3292G>C
c.3803G>C (p.Arg1268Thr)
c.3851G>C (p.Arg1284Thr)
c.3911G>C (p.Arg1304Thr)
c.3461G>C (p.Arg1154Thr)
c.1763G>C (p.Arg588Thr)
c.1580G>C (p.Arg527Thr)
c.3812G>C (p.Arg1271Thr)
c.3764G>C (p.Arg1255Thr)
c.3533G>C (p.Arg1178Thr)
c.3434G>C (p.Arg1145Thr)
c.2615G>C (p.Arg872Thr)
n.4166G>C
13g.51937350C>TCA388021122ATP7Bc.*1597G>A (n.*1597G>A)
c.*2691G>A (n.*2691G>A)
c.3326G>A (p.Arg1109Lys)
c.3947G>A (p.Arg1316Lys)
c.3614G>A (p.Arg1205Lys)
c.3695G>A (p.Arg1232Lys)
n.1270G>A
c.3713G>A (p.Arg1238Lys)
n.4086G>A
n.813G>A
c.2882G>A (p.Arg961Lys)
c.2657G>A (p.Arg886Lys)
c.3752G>A (p.Arg1251Lys)
c.1725G>A
c.*1048G>A (n.*1048G>A)
n.4691G>A
n.3292G>A
c.3803G>A (p.Arg1268Lys)
c.3851G>A (p.Arg1284Lys)
c.3911G>A (p.Arg1304Lys)
c.3461G>A (p.Arg1154Lys)
c.1763G>A (p.Arg588Lys)
c.1580G>A (p.Arg527Lys)
c.3812G>A (p.Arg1271Lys)
c.3764G>A (p.Arg1255Lys)
c.3533G>A (p.Arg1178Lys)
c.3434G>A (p.Arg1145Lys)
c.2615G>A (p.Arg872Lys)
n.4166G>A
 dbSNP gnomAD v2 gnomAD v4
13g.51937350_51937355delinsTCTCA2499222484ATP7Bc.*1592_*1597delinsAGA (n.*1592_*1597delinsAGA)
c.*2686_*2691delinsAGA (n.*2686_*2691delinsAGA)
c.3321_3326delinsAGA (p.Lys1108_Arg1109delinsGlu)
c.3942_3947delinsAGA (p.Lys1315_Arg1316delinsGlu)
c.3609_3614delinsAGA (p.Lys1204_Arg1205delinsGlu)
c.3690_3695delinsAGA (p.Lys1231_Arg1232delinsGlu)
n.1265_1270delinsAGA
c.3708_3713delinsAGA (p.Lys1237_Arg1238delinsGlu)
n.4081_4086delinsAGA
n.808_813delinsAGA
c.2877_2882delinsAGA (p.Lys960_Arg961delinsGlu)
c.2652_2657delinsAGA (p.Lys885_Arg886delinsGlu)
c.3747_3752delinsAGA (p.Lys1250_Arg1251delinsGlu)
c.1720_1725delinsAGA
c.*1043_*1048delinsAGA (n.*1043_*1048delinsAGA)
n.4686_4691delinsAGA
n.3287_3292delinsAGA
c.3798_3803delinsAGA (p.Lys1267_Arg1268delinsGlu)
c.3846_3851delinsAGA (p.Lys1283_Arg1284delinsGlu)
c.3906_3911delinsAGA (p.Lys1303_Arg1304delinsGlu)
c.3456_3461delinsAGA (p.Lys1153_Arg1154delinsGlu)
c.1758_1763delinsAGA (p.Lys587_Arg588delinsGlu)
c.1575_1580delinsAGA (p.Lys526_Arg527delinsGlu)
c.3807_3812delinsAGA (p.Lys1270_Arg1271delinsGlu)
c.3759_3764delinsAGA (p.Lys1254_Arg1255delinsGlu)
c.3528_3533delinsAGA (p.Lys1177_Arg1178delinsGlu)
c.3429_3434delinsAGA (p.Lys1144_Arg1145delinsGlu)
c.2610_2615delinsAGA (p.Lys871_Arg872delinsGlu)
n.4161_4166delinsAGA
 ClinVar dbSNP
13g.51937351T>ACA388021124ATP7Bc.*1596A>T (n.*1596A>T)
c.*2690A>T (n.*2690A>T)
c.3325A>T (p.Arg1109Trp)
c.3946A>T (p.Arg1316Trp)
c.3613A>T (p.Arg1205Trp)
c.3694A>T (p.Arg1232Trp)
n.1269A>T
c.3712A>T (p.Arg1238Trp)
n.4085A>T
n.812A>T
c.2881A>T (p.Arg961Trp)
c.2656A>T (p.Arg886Trp)
c.3751A>T (p.Arg1251Trp)
c.1724A>T
c.*1047A>T (n.*1047A>T)
n.4690A>T
n.3291A>T
c.3802A>T (p.Arg1268Trp)
c.3850A>T (p.Arg1284Trp)
c.3910A>T (p.Arg1304Trp)
c.3460A>T (p.Arg1154Trp)
c.1762A>T (p.Arg588Trp)
c.1579A>T (p.Arg527Trp)
c.3811A>T (p.Arg1271Trp)
c.3763A>T (p.Arg1255Trp)
c.3532A>T (p.Arg1178Trp)
c.3433A>T (p.Arg1145Trp)
c.2614A>T (p.Arg872Trp)
n.4165A>T
13g.51937351T>CCA388021125ATP7Bc.*1596A>G (n.*1596A>G)
c.*2690A>G (n.*2690A>G)
c.3325A>G (p.Arg1109Gly)
c.3946A>G (p.Arg1316Gly)
c.3613A>G (p.Arg1205Gly)
c.3694A>G (p.Arg1232Gly)
n.1269A>G
c.3712A>G (p.Arg1238Gly)
n.4085A>G
n.812A>G
c.2881A>G (p.Arg961Gly)
c.2656A>G (p.Arg886Gly)
c.3751A>G (p.Arg1251Gly)
c.1724A>G
c.*1047A>G (n.*1047A>G)
n.4690A>G
n.3291A>G
c.3802A>G (p.Arg1268Gly)
c.3850A>G (p.Arg1284Gly)
c.3910A>G (p.Arg1304Gly)
c.3460A>G (p.Arg1154Gly)
c.1762A>G (p.Arg588Gly)
c.1579A>G (p.Arg527Gly)
c.3811A>G (p.Arg1271Gly)
c.3763A>G (p.Arg1255Gly)
c.3532A>G (p.Arg1178Gly)
c.3433A>G (p.Arg1145Gly)
c.2614A>G (p.Arg872Gly)
n.4165A>G
13g.51937351T>GCA484024238ATP7Bc.*1596A>C (n.*1596A>C)
c.*2690A>C (n.*2690A>C)
c.3325A>C (p.Arg1109=)
c.3946A>C (p.Arg1316=)
c.3613A>C (p.Arg1205=)
c.3694A>C (p.Arg1232=)
n.1269A>C
c.3712A>C (p.Arg1238=)
n.4085A>C
n.812A>C
c.2881A>C (p.Arg961=)
c.2656A>C (p.Arg886=)
c.3751A>C (p.Arg1251=)
c.1724A>C
c.*1047A>C (n.*1047A>C)
n.4690A>C
n.3291A>C
c.3802A>C (p.Arg1268=)
c.3850A>C (p.Arg1284=)
c.3910A>C (p.Arg1304=)
c.3460A>C (p.Arg1154=)
c.1762A>C (p.Arg588=)
c.1579A>C (p.Arg527=)
c.3811A>C (p.Arg1271=)
c.3763A>C (p.Arg1255=)
c.3532A>C (p.Arg1178=)
c.3433A>C (p.Arg1145=)
c.2614A>C (p.Arg872=)
n.4165A>C
13g.51937352C>ACA388021127ATP7Bc.*1595G>T (n.*1595G>T)
c.*2689G>T (n.*2689G>T)
c.3324G>T (p.Lys1108Asn)
c.3945G>T (p.Lys1315Asn)
c.3612G>T (p.Lys1204Asn)
c.3693G>T (p.Lys1231Asn)
n.1268G>T
c.3711G>T (p.Lys1237Asn)
n.4084G>T
n.811G>T
c.2880G>T (p.Lys960Asn)
c.2655G>T (p.Lys885Asn)
c.3750G>T (p.Lys1250Asn)
c.1723G>T
c.*1046G>T (n.*1046G>T)
n.4689G>T
n.3290G>T
c.3801G>T (p.Lys1267Asn)
c.3849G>T (p.Lys1283Asn)
c.3909G>T (p.Lys1303Asn)
c.3459G>T (p.Lys1153Asn)
c.1761G>T (p.Lys587Asn)
c.1578G>T (p.Lys526Asn)
c.3810G>T (p.Lys1270Asn)
c.3762G>T (p.Lys1254Asn)
c.3531G>T (p.Lys1177Asn)
c.3432G>T (p.Lys1144Asn)
c.2613G>T (p.Lys871Asn)
n.4164G>T
13g.51937352C=CA2091553482ATP7Bc.*1595G= (n.*1595G=)
c.*2689G= (n.*2689G=)
c.3324G= (p.Lys1108=)
c.3945G= (p.Lys1315=)
c.3612G= (p.Lys1204=)
c.3693G= (p.Lys1231=)
n.1268G=
c.3711G= (p.Lys1237=)
n.4084G=
n.811G=
c.2880G= (p.Lys960=)
c.2655G= (p.Lys885=)
c.3750G= (p.Lys1250=)
c.1723G=
c.*1046G= (n.*1046G=)
n.4689G=
n.3290G=
c.3801G= (p.Lys1267=)
c.3849G= (p.Lys1283=)
c.3909G= (p.Lys1303=)
c.3459G= (p.Lys1153=)
c.1761G= (p.Lys587=)
c.1578G= (p.Lys526=)
c.3810G= (p.Lys1270=)
c.3762G= (p.Lys1254=)
c.3531G= (p.Lys1177=)
c.3432G= (p.Lys1144=)
c.2613G= (p.Lys871=)
n.4164G=
13g.51937352C>GCA388021129ATP7Bc.*1595G>C (n.*1595G>C)
c.*2689G>C (n.*2689G>C)
c.3324G>C (p.Lys1108Asn)
c.3945G>C (p.Lys1315Asn)
c.3612G>C (p.Lys1204Asn)
c.3693G>C (p.Lys1231Asn)
n.1268G>C
c.3711G>C (p.Lys1237Asn)
n.4084G>C
n.811G>C
c.2880G>C (p.Lys960Asn)
c.2655G>C (p.Lys885Asn)
c.3750G>C (p.Lys1250Asn)
c.1723G>C
c.*1046G>C (n.*1046G>C)
n.4689G>C
n.3290G>C
c.3801G>C (p.Lys1267Asn)
c.3849G>C (p.Lys1283Asn)
c.3909G>C (p.Lys1303Asn)
c.3459G>C (p.Lys1153Asn)
c.1761G>C (p.Lys587Asn)
c.1578G>C (p.Lys526Asn)
c.3810G>C (p.Lys1270Asn)
c.3762G>C (p.Lys1254Asn)
c.3531G>C (p.Lys1177Asn)
c.3432G>C (p.Lys1144Asn)
c.2613G>C (p.Lys871Asn)
n.4164G>C
13g.51937352C>TCA484024239ATP7Bc.*1595G>A (n.*1595G>A)
c.*2689G>A (n.*2689G>A)
c.3324G>A (p.Lys1108=)
c.3945G>A (p.Lys1315=)
c.3612G>A (p.Lys1204=)
c.3693G>A (p.Lys1231=)
n.1268G>A
c.3711G>A (p.Lys1237=)
n.4084G>A
n.811G>A
c.2880G>A (p.Lys960=)
c.2655G>A (p.Lys885=)
c.3750G>A (p.Lys1250=)
c.1723G>A
c.*1046G>A (n.*1046G>A)
n.4689G>A
n.3290G>A
c.3801G>A (p.Lys1267=)
c.3849G>A (p.Lys1283=)
c.3909G>A (p.Lys1303=)
c.3459G>A (p.Lys1153=)
c.1761G>A (p.Lys587=)
c.1578G>A (p.Lys526=)
c.3810G>A (p.Lys1270=)
c.3762G>A (p.Lys1254=)
c.3531G>A (p.Lys1177=)
c.3432G>A (p.Lys1144=)
c.2613G>A (p.Lys871=)
n.4164G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51937354_51937369delCA2623119065ATP7Bc.*1580_*1595del (n.*1580_*1595del)
c.*2674_*2689del (n.*2674_*2689del)
c.3309_3324del (p.Ser1103ArgfsTer15)
c.3930_3945del (p.Ser1310ArgfsTer15)
c.3597_3612del (p.Ser1199ArgfsTer15)
c.3678_3693del (p.Ser1226ArgfsTer15)
n.1253_1268del
c.3696_3711del (p.Ser1232ArgfsTer15)
n.4069_4084del
n.796_811del
c.2865_2880del (p.Ser955ArgfsTer15)
c.2640_2655del (p.Ser880ArgfsTer15)
c.3735_3750del (p.Ser1245ArgfsTer15)
c.1708_1723del
c.*1031_*1046del (n.*1031_*1046del)
n.4674_4689del
n.3275_3290del
c.3786_3801del (p.Ser1262ArgfsTer15)
c.3834_3849del (p.Ser1278ArgfsTer15)
c.3894_3909del (p.Ser1298ArgfsTer15)
c.3444_3459del (p.Ser1148ArgfsTer15)
c.1746_1761del (p.Ser582ArgfsTer15)
c.1563_1578del (p.Ser521ArgfsTer15)
c.3795_3810del (p.Ser1265ArgfsTer15)
c.3747_3762del (p.Ser1249ArgfsTer15)
c.3516_3531del (p.Ser1172ArgfsTer15)
c.3417_3432del (p.Ser1139ArgfsTer15)
c.2598_2613del (p.Ser866ArgfsTer15)
n.4149_4164del
 gnomAD v4
13g.51937353T>ACA388021131ATP7Bc.*1594A>T (n.*1594A>T)
c.*2688A>T (n.*2688A>T)
c.3323A>T (p.Lys1108Met)
c.3944A>T (p.Lys1315Met)
c.3611A>T (p.Lys1204Met)
c.3692A>T (p.Lys1231Met)
n.1267A>T
c.3710A>T (p.Lys1237Met)
n.4083A>T
n.810A>T
c.2879A>T (p.Lys960Met)
c.2654A>T (p.Lys885Met)
c.3749A>T (p.Lys1250Met)
c.1722A>T
c.*1045A>T (n.*1045A>T)
n.4688A>T
n.3289A>T
c.3800A>T (p.Lys1267Met)
c.3848A>T (p.Lys1283Met)
c.3908A>T (p.Lys1303Met)
c.3458A>T (p.Lys1153Met)
c.1760A>T (p.Lys587Met)
c.1577A>T (p.Lys526Met)
c.3809A>T (p.Lys1270Met)
c.3761A>T (p.Lys1254Met)
c.3530A>T (p.Lys1177Met)
c.3431A>T (p.Lys1144Met)
c.2612A>T (p.Lys871Met)
n.4163A>T
13g.51937353T>CCA388021132ATP7Bc.*1594A>G (n.*1594A>G)
c.*2688A>G (n.*2688A>G)
c.3323A>G (p.Lys1108Arg)
c.3944A>G (p.Lys1315Arg)
c.3611A>G (p.Lys1204Arg)
c.3692A>G (p.Lys1231Arg)
n.1267A>G
c.3710A>G (p.Lys1237Arg)
n.4083A>G
n.810A>G
c.2879A>G (p.Lys960Arg)
c.2654A>G (p.Lys885Arg)
c.3749A>G (p.Lys1250Arg)
c.1722A>G
c.*1045A>G (n.*1045A>G)
n.4688A>G
n.3289A>G
c.3800A>G (p.Lys1267Arg)
c.3848A>G (p.Lys1283Arg)
c.3908A>G (p.Lys1303Arg)
c.3458A>G (p.Lys1153Arg)
c.1760A>G (p.Lys587Arg)
c.1577A>G (p.Lys526Arg)
c.3809A>G (p.Lys1270Arg)
c.3761A>G (p.Lys1254Arg)
c.3530A>G (p.Lys1177Arg)
c.3431A>G (p.Lys1144Arg)
c.2612A>G (p.Lys871Arg)
n.4163A>G
 dbSNP gnomAD v3 gnomAD v4
13g.51937353T>GCA388021133ATP7Bc.*1594A>C (n.*1594A>C)
c.*2688A>C (n.*2688A>C)
c.3323A>C (p.Lys1108Thr)
c.3944A>C (p.Lys1315Thr)
c.3611A>C (p.Lys1204Thr)
c.3692A>C (p.Lys1231Thr)
n.1267A>C
c.3710A>C (p.Lys1237Thr)
n.4083A>C
n.810A>C
c.2879A>C (p.Lys960Thr)
c.2654A>C (p.Lys885Thr)
c.3749A>C (p.Lys1250Thr)
c.1722A>C
c.*1045A>C (n.*1045A>C)
n.4688A>C
n.3289A>C
c.3800A>C (p.Lys1267Thr)
c.3848A>C (p.Lys1283Thr)
c.3908A>C (p.Lys1303Thr)
c.3458A>C (p.Lys1153Thr)
c.1760A>C (p.Lys587Thr)
c.1577A>C (p.Lys526Thr)
c.3809A>C (p.Lys1270Thr)
c.3761A>C (p.Lys1254Thr)
c.3530A>C (p.Lys1177Thr)
c.3431A>C (p.Lys1144Thr)
c.2612A>C (p.Lys871Thr)
n.4163A>C
13g.51937353T=CA2091553488ATP7Bc.*1594A= (n.*1594A=)
c.*2688A= (n.*2688A=)
c.3323A= (p.Lys1108=)
c.3944A= (p.Lys1315=)
c.3611A= (p.Lys1204=)
c.3692A= (p.Lys1231=)
n.1267A=
c.3710A= (p.Lys1237=)
n.4083A=
n.810A=
c.2879A= (p.Lys960=)
c.2654A= (p.Lys885=)
c.3749A= (p.Lys1250=)
c.1722A=
c.*1045A= (n.*1045A=)
n.4688A=
n.3289A=
c.3800A= (p.Lys1267=)
c.3848A= (p.Lys1283=)
c.3908A= (p.Lys1303=)
c.3458A= (p.Lys1153=)
c.1760A= (p.Lys587=)
c.1577A= (p.Lys526=)
c.3809A= (p.Lys1270=)
c.3761A= (p.Lys1254=)
c.3530A= (p.Lys1177=)
c.3431A= (p.Lys1144=)
c.2612A= (p.Lys871=)
n.4163A=
13g.51937353_51937355delinsTTGCA2091553487ATP7Bc.*1592_*1594delinsCAA (n.*1592_*1594delinsCAA)
c.*2686_*2688delinsCAA (n.*2686_*2688delinsCAA)
c.3321_3323delinsCAA (p.Ser1107=)
c.3942_3944delinsCAA (p.Ser1314=)
c.3609_3611delinsCAA (p.Ser1203=)
c.3690_3692delinsCAA (p.Ser1230=)
n.1265_1267delinsCAA
c.3708_3710delinsCAA (p.Ser1236=)
n.4081_4083delinsCAA
n.808_810delinsCAA
c.2877_2879delinsCAA (p.Ser959=)
c.2652_2654delinsCAA (p.Ser884=)
c.3747_3749delinsCAA (p.Ser1249=)
c.1720_1722delinsCAA
c.*1043_*1045delinsCAA (n.*1043_*1045delinsCAA)
n.4686_4688delinsCAA
n.3287_3289delinsCAA
c.3798_3800delinsCAA (p.Ser1266=)
c.3846_3848delinsCAA (p.Ser1282=)
c.3906_3908delinsCAA (p.Ser1302=)
c.3456_3458delinsCAA (p.Ser1152=)
c.1758_1760delinsCAA (p.Ser586=)
c.1575_1577delinsCAA (p.Ser525=)
c.3807_3809delinsCAA (p.Ser1269=)
c.3759_3761delinsCAA (p.Ser1253=)
c.3528_3530delinsCAA (p.Ser1176=)
c.3429_3431delinsCAA (p.Ser1143=)
c.2610_2612delinsCAA (p.Ser870=)
n.4161_4163delinsCAA
13g.51937354T>ACA388021137ATP7Bc.*1593A>T (n.*1593A>T)
c.*2687A>T (n.*2687A>T)
c.3322A>T (p.Lys1108Ter)
c.3943A>T (p.Lys1315Ter)
c.3610A>T (p.Lys1204Ter)
c.3691A>T (p.Lys1231Ter)
n.1266A>T
c.3709A>T (p.Lys1237Ter)
n.4082A>T
n.809A>T
c.2878A>T (p.Lys960Ter)
c.2653A>T (p.Lys885Ter)
c.3748A>T (p.Lys1250Ter)
c.1721A>T
c.*1044A>T (n.*1044A>T)
n.4687A>T
n.3288A>T
c.3799A>T (p.Lys1267Ter)
c.3847A>T (p.Lys1283Ter)
c.3907A>T (p.Lys1303Ter)
c.3457A>T (p.Lys1153Ter)
c.1759A>T (p.Lys587Ter)
c.1576A>T (p.Lys526Ter)
c.3808A>T (p.Lys1270Ter)
c.3760A>T (p.Lys1254Ter)
c.3529A>T (p.Lys1177Ter)
c.3430A>T (p.Lys1144Ter)
c.2611A>T (p.Lys871Ter)
n.4162A>T
13g.51937354T>CCA388021139ATP7Bc.*1593A>G (n.*1593A>G)
c.*2687A>G (n.*2687A>G)
c.3322A>G (p.Lys1108Glu)
c.3943A>G (p.Lys1315Glu)
c.3610A>G (p.Lys1204Glu)
c.3691A>G (p.Lys1231Glu)
n.1266A>G
c.3709A>G (p.Lys1237Glu)
n.4082A>G
n.809A>G
c.2878A>G (p.Lys960Glu)
c.2653A>G (p.Lys885Glu)
c.3748A>G (p.Lys1250Glu)
c.1721A>G
c.*1044A>G (n.*1044A>G)
n.4687A>G
n.3288A>G
c.3799A>G (p.Lys1267Glu)
c.3847A>G (p.Lys1283Glu)
c.3907A>G (p.Lys1303Glu)
c.3457A>G (p.Lys1153Glu)
c.1759A>G (p.Lys587Glu)
c.1576A>G (p.Lys526Glu)
c.3808A>G (p.Lys1270Glu)
c.3760A>G (p.Lys1254Glu)
c.3529A>G (p.Lys1177Glu)
c.3430A>G (p.Lys1144Glu)
c.2611A>G (p.Lys871Glu)
n.4162A>G
13g.51937354T>GCA388021135ATP7Bc.*1593A>C (n.*1593A>C)
c.*2687A>C (n.*2687A>C)
c.3322A>C (p.Lys1108Gln)
c.3943A>C (p.Lys1315Gln)
c.3610A>C (p.Lys1204Gln)
c.3691A>C (p.Lys1231Gln)
n.1266A>C
c.3709A>C (p.Lys1237Gln)
n.4082A>C
n.809A>C
c.2878A>C (p.Lys960Gln)
c.2653A>C (p.Lys885Gln)
c.3748A>C (p.Lys1250Gln)
c.1721A>C
c.*1044A>C (n.*1044A>C)
n.4687A>C
n.3288A>C
c.3799A>C (p.Lys1267Gln)
c.3847A>C (p.Lys1283Gln)
c.3907A>C (p.Lys1303Gln)
c.3457A>C (p.Lys1153Gln)
c.1759A>C (p.Lys587Gln)
c.1576A>C (p.Lys526Gln)
c.3808A>C (p.Lys1270Gln)
c.3760A>C (p.Lys1254Gln)
c.3529A>C (p.Lys1177Gln)
c.3430A>C (p.Lys1144Gln)
c.2611A>C (p.Lys871Gln)
n.4162A>C
13g.51937354_51937355delCA16041662ATP7Bc.*1592_*1593del (n.*1592_*1593del)
c.*2686_*2687del (n.*2686_*2687del)
c.3321_3322del (p.Lys1108GlufsTer17)
c.3942_3943del (p.Lys1315GlufsTer17)
c.3609_3610del (p.Lys1204GlufsTer17)
c.3690_3691del (p.Lys1231GlufsTer17)
n.1265_1266del
c.3708_3709del (p.Lys1237GlufsTer17)
n.4081_4082del
n.808_809del
c.2877_2878del (p.Lys960GlufsTer17)
c.2652_2653del (p.Lys885GlufsTer17)
c.3747_3748del (p.Lys1250GlufsTer17)
c.1720_1721del
c.*1043_*1044del (n.*1043_*1044del)
n.4686_4687del
n.3287_3288del
c.3798_3799del (p.Lys1267GlufsTer17)
c.3846_3847del (p.Lys1283GlufsTer17)
c.3906_3907del (p.Lys1303GlufsTer17)
c.3456_3457del (p.Lys1153GlufsTer17)
c.1758_1759del (p.Lys587GlufsTer17)
c.1575_1576del (p.Lys526GlufsTer17)
c.3807_3808del (p.Lys1270GlufsTer17)
c.3759_3760del (p.Lys1254GlufsTer17)
c.3528_3529del (p.Lys1177GlufsTer17)
c.3429_3430del (p.Lys1144GlufsTer17)
c.2610_2611del (p.Lys871GlufsTer17)
n.4161_4162del
 ClinVar dbSNP gnomAD v4
13g.51937355G>ACA484024240ATP7Bc.*1592C>T (n.*1592C>T)
c.*2686C>T (n.*2686C>T)
c.3321C>T (p.Ser1107=)
c.3942C>T (p.Ser1314=)
c.3609C>T (p.Ser1203=)
c.3690C>T (p.Ser1230=)
n.1265C>T
c.3708C>T (p.Ser1236=)
n.4081C>T
n.808C>T
c.2877C>T (p.Ser959=)
c.2652C>T (p.Ser884=)
c.3747C>T (p.Ser1249=)
c.1720C>T
c.*1043C>T (n.*1043C>T)
n.4686C>T
n.3287C>T
c.3798C>T (p.Ser1266=)
c.3846C>T (p.Ser1282=)
c.3906C>T (p.Ser1302=)
c.3456C>T (p.Ser1152=)
c.1758C>T (p.Ser586=)
c.1575C>T (p.Ser525=)
c.3807C>T (p.Ser1269=)
c.3759C>T (p.Ser1253=)
c.3528C>T (p.Ser1176=)
c.3429C>T (p.Ser1143=)
c.2610C>T (p.Ser870=)
n.4161C>T
13g.51937355G>CCA484024241ATP7Bc.*1592C>G (n.*1592C>G)
c.*2686C>G (n.*2686C>G)
c.3321C>G (p.Ser1107=)
c.3942C>G (p.Ser1314=)
c.3609C>G (p.Ser1203=)
c.3690C>G (p.Ser1230=)
n.1265C>G
c.3708C>G (p.Ser1236=)
n.4081C>G
n.808C>G
c.2877C>G (p.Ser959=)
c.2652C>G (p.Ser884=)
c.3747C>G (p.Ser1249=)
c.1720C>G
c.*1043C>G (n.*1043C>G)
n.4686C>G
n.3287C>G
c.3798C>G (p.Ser1266=)
c.3846C>G (p.Ser1282=)
c.3906C>G (p.Ser1302=)
c.3456C>G (p.Ser1152=)
c.1758C>G (p.Ser586=)
c.1575C>G (p.Ser525=)
c.3807C>G (p.Ser1269=)
c.3759C>G (p.Ser1253=)
c.3528C>G (p.Ser1176=)
c.3429C>G (p.Ser1143=)
c.2610C>G (p.Ser870=)
n.4161C>G
13g.51937355G>TCA484024242ATP7Bc.*1592C>A (n.*1592C>A)
c.*2686C>A (n.*2686C>A)
c.3321C>A (p.Ser1107=)
c.3942C>A (p.Ser1314=)
c.3609C>A (p.Ser1203=)
c.3690C>A (p.Ser1230=)
n.1265C>A
c.3708C>A (p.Ser1236=)
n.4081C>A
n.808C>A
c.2877C>A (p.Ser959=)
c.2652C>A (p.Ser884=)
c.3747C>A (p.Ser1249=)
c.1720C>A
c.*1043C>A (n.*1043C>A)
n.4686C>A
n.3287C>A
c.3798C>A (p.Ser1266=)
c.3846C>A (p.Ser1282=)
c.3906C>A (p.Ser1302=)
c.3456C>A (p.Ser1152=)
c.1758C>A (p.Ser586=)
c.1575C>A (p.Ser525=)
c.3807C>A (p.Ser1269=)
c.3759C>A (p.Ser1253=)
c.3528C>A (p.Ser1176=)
c.3429C>A (p.Ser1143=)
c.2610C>A (p.Ser870=)
n.4161C>A
13g.51937356G>ACA388021142ATP7Bc.*1591C>T (n.*1591C>T)
c.*2685C>T (n.*2685C>T)
c.3320C>T (p.Ser1107Phe)
c.3941C>T (p.Ser1314Phe)
c.3608C>T (p.Ser1203Phe)
c.3689C>T (p.Ser1230Phe)
n.1264C>T
c.3707C>T (p.Ser1236Phe)
n.4080C>T
n.807C>T
c.2876C>T (p.Ser959Phe)
c.2651C>T (p.Ser884Phe)
c.3746C>T (p.Ser1249Phe)
c.1719C>T
c.*1042C>T (n.*1042C>T)
n.4685C>T
n.3286C>T
c.3797C>T (p.Ser1266Phe)
c.3845C>T (p.Ser1282Phe)
c.3905C>T (p.Ser1302Phe)
c.3455C>T (p.Ser1152Phe)
c.1757C>T (p.Ser586Phe)
c.1574C>T (p.Ser525Phe)
c.3806C>T (p.Ser1269Phe)
c.3758C>T (p.Ser1253Phe)
c.3527C>T (p.Ser1176Phe)
c.3428C>T (p.Ser1143Phe)
c.2609C>T (p.Ser870Phe)
n.4160C>T
 dbSNP
13g.51937356G>CCA388021140ATP7Bc.*1591C>G (n.*1591C>G)
c.*2685C>G (n.*2685C>G)
c.3320C>G (p.Ser1107Cys)
c.3941C>G (p.Ser1314Cys)
c.3608C>G (p.Ser1203Cys)
c.3689C>G (p.Ser1230Cys)
n.1264C>G
c.3707C>G (p.Ser1236Cys)
n.4080C>G
n.807C>G
c.2876C>G (p.Ser959Cys)
c.2651C>G (p.Ser884Cys)
c.3746C>G (p.Ser1249Cys)
c.1719C>G
c.*1042C>G (n.*1042C>G)
n.4685C>G
n.3286C>G
c.3797C>G (p.Ser1266Cys)
c.3845C>G (p.Ser1282Cys)
c.3905C>G (p.Ser1302Cys)
c.3455C>G (p.Ser1152Cys)
c.1757C>G (p.Ser586Cys)
c.1574C>G (p.Ser525Cys)
c.3806C>G (p.Ser1269Cys)
c.3758C>G (p.Ser1253Cys)
c.3527C>G (p.Ser1176Cys)
c.3428C>G (p.Ser1143Cys)
c.2609C>G (p.Ser870Cys)
n.4160C>G
13g.51937356G=CA2091553495ATP7Bc.*1591C= (n.*1591C=)
c.*2685C= (n.*2685C=)
c.3320C= (p.Ser1107=)
c.3941C= (p.Ser1314=)
c.3608C= (p.Ser1203=)
c.3689C= (p.Ser1230=)
n.1264C=
c.3707C= (p.Ser1236=)
n.4080C=
n.807C=
c.2876C= (p.Ser959=)
c.2651C= (p.Ser884=)
c.3746C= (p.Ser1249=)
c.1719C=
c.*1042C= (n.*1042C=)
n.4685C=
n.3286C=
c.3797C= (p.Ser1266=)
c.3845C= (p.Ser1282=)
c.3905C= (p.Ser1302=)
c.3455C= (p.Ser1152=)
c.1757C= (p.Ser586=)
c.1574C= (p.Ser525=)
c.3806C= (p.Ser1269=)
c.3758C= (p.Ser1253=)
c.3527C= (p.Ser1176=)
c.3428C= (p.Ser1143=)
c.2609C= (p.Ser870=)
n.4160C=
13g.51937356G>TCA388021143ATP7Bc.*1591C>A (n.*1591C>A)
c.*2685C>A (n.*2685C>A)
c.3320C>A (p.Ser1107Tyr)
c.3941C>A (p.Ser1314Tyr)
c.3608C>A (p.Ser1203Tyr)
c.3689C>A (p.Ser1230Tyr)
n.1264C>A
c.3707C>A (p.Ser1236Tyr)
n.4080C>A
n.807C>A
c.2876C>A (p.Ser959Tyr)
c.2651C>A (p.Ser884Tyr)
c.3746C>A (p.Ser1249Tyr)
c.1719C>A
c.*1042C>A (n.*1042C>A)
n.4685C>A
n.3286C>A
c.3797C>A (p.Ser1266Tyr)
c.3845C>A (p.Ser1282Tyr)
c.3905C>A (p.Ser1302Tyr)
c.3455C>A (p.Ser1152Tyr)
c.1757C>A (p.Ser586Tyr)
c.1574C>A (p.Ser525Tyr)
c.3806C>A (p.Ser1269Tyr)
c.3758C>A (p.Ser1253Tyr)
c.3527C>A (p.Ser1176Tyr)
c.3428C>A (p.Ser1143Tyr)
c.2609C>A (p.Ser870Tyr)
n.4160C>A
13g.51937357A>CCA388021145ATP7Bc.*1590T>G (n.*1590T>G)
c.*2684T>G (n.*2684T>G)
c.3319T>G (p.Ser1107Ala)
c.3940T>G (p.Ser1314Ala)
c.3607T>G (p.Ser1203Ala)
c.3688T>G (p.Ser1230Ala)
n.1263T>G
c.3706T>G (p.Ser1236Ala)
n.4079T>G
n.806T>G
c.2875T>G (p.Ser959Ala)
c.2650T>G (p.Ser884Ala)
c.3745T>G (p.Ser1249Ala)
c.1718T>G
c.*1041T>G (n.*1041T>G)
n.4684T>G
n.3285T>G
c.3796T>G (p.Ser1266Ala)
c.3844T>G (p.Ser1282Ala)
c.3904T>G (p.Ser1302Ala)
c.3454T>G (p.Ser1152Ala)
c.1756T>G (p.Ser586Ala)
c.1573T>G (p.Ser525Ala)
c.3805T>G (p.Ser1269Ala)
c.3757T>G (p.Ser1253Ala)
c.3526T>G (p.Ser1176Ala)
c.3427T>G (p.Ser1143Ala)
c.2608T>G (p.Ser870Ala)
n.4159T>G
13g.51937357A>GCA388021147ATP7Bc.*1590T>C (n.*1590T>C)
c.*2684T>C (n.*2684T>C)
c.3319T>C (p.Ser1107Pro)
c.3940T>C (p.Ser1314Pro)
c.3607T>C (p.Ser1203Pro)
c.3688T>C (p.Ser1230Pro)
n.1263T>C
c.3706T>C (p.Ser1236Pro)
n.4079T>C
n.806T>C
c.2875T>C (p.Ser959Pro)
c.2650T>C (p.Ser884Pro)
c.3745T>C (p.Ser1249Pro)
c.1718T>C
c.*1041T>C (n.*1041T>C)
n.4684T>C
n.3285T>C
c.3796T>C (p.Ser1266Pro)
c.3844T>C (p.Ser1282Pro)
c.3904T>C (p.Ser1302Pro)
c.3454T>C (p.Ser1152Pro)
c.1756T>C (p.Ser586Pro)
c.1573T>C (p.Ser525Pro)
c.3805T>C (p.Ser1269Pro)
c.3757T>C (p.Ser1253Pro)
c.3526T>C (p.Ser1176Pro)
c.3427T>C (p.Ser1143Pro)
c.2608T>C (p.Ser870Pro)
n.4159T>C
13g.51937357A>TCA388021149ATP7Bc.*1590T>A (n.*1590T>A)
c.*2684T>A (n.*2684T>A)
c.3319T>A (p.Ser1107Thr)
c.3940T>A (p.Ser1314Thr)
c.3607T>A (p.Ser1203Thr)
c.3688T>A (p.Ser1230Thr)
n.1263T>A
c.3706T>A (p.Ser1236Thr)
n.4079T>A
n.806T>A
c.2875T>A (p.Ser959Thr)
c.2650T>A (p.Ser884Thr)
c.3745T>A (p.Ser1249Thr)
c.1718T>A
c.*1041T>A (n.*1041T>A)
n.4684T>A
n.3285T>A
c.3796T>A (p.Ser1266Thr)
c.3844T>A (p.Ser1282Thr)
c.3904T>A (p.Ser1302Thr)
c.3454T>A (p.Ser1152Thr)
c.1756T>A (p.Ser586Thr)
c.1573T>A (p.Ser525Thr)
c.3805T>A (p.Ser1269Thr)
c.3757T>A (p.Ser1253Thr)
c.3526T>A (p.Ser1176Thr)
c.3427T>A (p.Ser1143Thr)
c.2608T>A (p.Ser870Thr)
n.4159T>A
13g.51937358A=CA2091553499ATP7Bc.*1589T= (n.*1589T=)
c.*2683T= (n.*2683T=)
c.3318T= (p.Leu1106=)
c.3939T= (p.Leu1313=)
c.3606T= (p.Leu1202=)
c.3687T= (p.Leu1229=)
n.1262T=
c.3705T= (p.Leu1235=)
n.4078T=
n.805T=
c.2874T= (p.Leu958=)
c.2649T= (p.Leu883=)
c.3744T= (p.Leu1248=)
c.1717T=
c.*1040T= (n.*1040T=)
n.4683T=
n.3284T=
c.3795T= (p.Leu1265=)
c.3843T= (p.Leu1281=)
c.3903T= (p.Leu1301=)
c.3453T= (p.Leu1151=)
c.1755T= (p.Leu585=)
c.1572T= (p.Leu524=)
c.3804T= (p.Leu1268=)
c.3756T= (p.Leu1252=)
c.3525T= (p.Leu1175=)
c.3426T= (p.Leu1142=)
c.2607T= (p.Leu869=)
n.4158T=
13g.51937358A>CCA484024243ATP7Bc.*1589T>G (n.*1589T>G)
c.*2683T>G (n.*2683T>G)
c.3318T>G (p.Leu1106=)
c.3939T>G (p.Leu1313=)
c.3606T>G (p.Leu1202=)
c.3687T>G (p.Leu1229=)
n.1262T>G
c.3705T>G (p.Leu1235=)
n.4078T>G
n.805T>G
c.2874T>G (p.Leu958=)
c.2649T>G (p.Leu883=)
c.3744T>G (p.Leu1248=)
c.1717T>G
c.*1040T>G (n.*1040T>G)
n.4683T>G
n.3284T>G
c.3795T>G (p.Leu1265=)
c.3843T>G (p.Leu1281=)
c.3903T>G (p.Leu1301=)
c.3453T>G (p.Leu1151=)
c.1755T>G (p.Leu585=)
c.1572T>G (p.Leu524=)
c.3804T>G (p.Leu1268=)
c.3756T>G (p.Leu1252=)
c.3525T>G (p.Leu1175=)
c.3426T>G (p.Leu1142=)
c.2607T>G (p.Leu869=)
n.4158T>G
 gnomAD v4
13g.51937358A>GCA250073397ATP7Bc.*1589T>C (n.*1589T>C)
c.*2683T>C (n.*2683T>C)
c.3318T>C (p.Leu1106=)
c.3939T>C (p.Leu1313=)
c.3606T>C (p.Leu1202=)
c.3687T>C (p.Leu1229=)
n.1262T>C
c.3705T>C (p.Leu1235=)
n.4078T>C
n.805T>C
c.2874T>C (p.Leu958=)
c.2649T>C (p.Leu883=)
c.3744T>C (p.Leu1248=)
c.1717T>C
c.*1040T>C (n.*1040T>C)
n.4683T>C
n.3284T>C
c.3795T>C (p.Leu1265=)
c.3843T>C (p.Leu1281=)
c.3903T>C (p.Leu1301=)
c.3453T>C (p.Leu1151=)
c.1755T>C (p.Leu585=)
c.1572T>C (p.Leu524=)
c.3804T>C (p.Leu1268=)
c.3756T>C (p.Leu1252=)
c.3525T>C (p.Leu1175=)
c.3426T>C (p.Leu1142=)
c.2607T>C (p.Leu869=)
n.4158T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51937358A>TCA484024244ATP7Bc.*1589T>A (n.*1589T>A)
c.*2683T>A (n.*2683T>A)
c.3318T>A (p.Leu1106=)
c.3939T>A (p.Leu1313=)
c.3606T>A (p.Leu1202=)
c.3687T>A (p.Leu1229=)
n.1262T>A
c.3705T>A (p.Leu1235=)
n.4078T>A
n.805T>A
c.2874T>A (p.Leu958=)
c.2649T>A (p.Leu883=)
c.3744T>A (p.Leu1248=)
c.1717T>A
c.*1040T>A (n.*1040T>A)
n.4683T>A
n.3284T>A
c.3795T>A (p.Leu1265=)
c.3843T>A (p.Leu1281=)
c.3903T>A (p.Leu1301=)
c.3453T>A (p.Leu1151=)
c.1755T>A (p.Leu585=)
c.1572T>A (p.Leu524=)
c.3804T>A (p.Leu1268=)
c.3756T>A (p.Leu1252=)
c.3525T>A (p.Leu1175=)
c.3426T>A (p.Leu1142=)
c.2607T>A (p.Leu869=)
n.4158T>A
13g.51937359A>CCA388021150ATP7Bc.*1588T>G (n.*1588T>G)
c.*2682T>G (n.*2682T>G)
c.3317T>G (p.Leu1106Arg)
c.3938T>G (p.Leu1313Arg)
c.3605T>G (p.Leu1202Arg)
c.3686T>G (p.Leu1229Arg)
n.1261T>G
c.3704T>G (p.Leu1235Arg)
n.4077T>G
n.804T>G
c.2873T>G (p.Leu958Arg)
c.2648T>G (p.Leu883Arg)
c.3743T>G (p.Leu1248Arg)
c.1716T>G
c.*1039T>G (n.*1039T>G)
n.4682T>G
n.3283T>G
c.3794T>G (p.Leu1265Arg)
c.3842T>G (p.Leu1281Arg)
c.3902T>G (p.Leu1301Arg)
c.3452T>G (p.Leu1151Arg)
c.1754T>G (p.Leu585Arg)
c.1571T>G (p.Leu524Arg)
c.3803T>G (p.Leu1268Arg)
c.3755T>G (p.Leu1252Arg)
c.3524T>G (p.Leu1175Arg)
c.3425T>G (p.Leu1142Arg)
c.2606T>G (p.Leu869Arg)
n.4157T>G
 gnomAD v4
13g.51937359A>GCA388021152ATP7Bc.*1588T>C (n.*1588T>C)
c.*2682T>C (n.*2682T>C)
c.3317T>C (p.Leu1106Pro)
c.3938T>C (p.Leu1313Pro)
c.3605T>C (p.Leu1202Pro)
c.3686T>C (p.Leu1229Pro)
n.1261T>C
c.3704T>C (p.Leu1235Pro)
n.4077T>C
n.804T>C
c.2873T>C (p.Leu958Pro)
c.2648T>C (p.Leu883Pro)
c.3743T>C (p.Leu1248Pro)
c.1716T>C
c.*1039T>C (n.*1039T>C)
n.4682T>C
n.3283T>C
c.3794T>C (p.Leu1265Pro)
c.3842T>C (p.Leu1281Pro)
c.3902T>C (p.Leu1301Pro)
c.3452T>C (p.Leu1151Pro)
c.1754T>C (p.Leu585Pro)
c.1571T>C (p.Leu524Pro)
c.3803T>C (p.Leu1268Pro)
c.3755T>C (p.Leu1252Pro)
c.3524T>C (p.Leu1175Pro)
c.3425T>C (p.Leu1142Pro)
c.2606T>C (p.Leu869Pro)
n.4157T>C
 ClinVar gnomAD v4
13g.51937359A>TCA388021154ATP7Bc.*1588T>A (n.*1588T>A)
c.*2682T>A (n.*2682T>A)
c.3317T>A (p.Leu1106His)
c.3938T>A (p.Leu1313His)
c.3605T>A (p.Leu1202His)
c.3686T>A (p.Leu1229His)
n.1261T>A
c.3704T>A (p.Leu1235His)
n.4077T>A
n.804T>A
c.2873T>A (p.Leu958His)
c.2648T>A (p.Leu883His)
c.3743T>A (p.Leu1248His)
c.1716T>A
c.*1039T>A (n.*1039T>A)
n.4682T>A
n.3283T>A
c.3794T>A (p.Leu1265His)
c.3842T>A (p.Leu1281His)
c.3902T>A (p.Leu1301His)
c.3452T>A (p.Leu1151His)
c.1754T>A (p.Leu585His)
c.1571T>A (p.Leu524His)
c.3803T>A (p.Leu1268His)
c.3755T>A (p.Leu1252His)
c.3524T>A (p.Leu1175His)
c.3425T>A (p.Leu1142His)
c.2606T>A (p.Leu869His)
n.4157T>A
13g.51937360G>ACA388021156ATP7Bc.*1587C>T (n.*1587C>T)
c.*2681C>T (n.*2681C>T)
c.3316C>T (p.Leu1106Phe)
c.3937C>T (p.Leu1313Phe)
c.3604C>T (p.Leu1202Phe)
c.3685C>T (p.Leu1229Phe)
n.1260C>T
c.3703C>T (p.Leu1235Phe)
n.4076C>T
n.803C>T
c.2872C>T (p.Leu958Phe)
c.2647C>T (p.Leu883Phe)
c.3742C>T (p.Leu1248Phe)
c.1715C>T
c.*1038C>T (n.*1038C>T)
n.4681C>T
n.3282C>T
c.3793C>T (p.Leu1265Phe)
c.3841C>T (p.Leu1281Phe)
c.3901C>T (p.Leu1301Phe)
c.3451C>T (p.Leu1151Phe)
c.1753C>T (p.Leu585Phe)
c.1570C>T (p.Leu524Phe)
c.3802C>T (p.Leu1268Phe)
c.3754C>T (p.Leu1252Phe)
c.3523C>T (p.Leu1175Phe)
c.3424C>T (p.Leu1142Phe)
c.2605C>T (p.Leu869Phe)
n.4156C>T
13g.51937360G>CCA388021157ATP7Bc.*1587C>G (n.*1587C>G)
c.*2681C>G (n.*2681C>G)
c.3316C>G (p.Leu1106Val)
c.3937C>G (p.Leu1313Val)
c.3604C>G (p.Leu1202Val)
c.3685C>G (p.Leu1229Val)
n.1260C>G
c.3703C>G (p.Leu1235Val)
n.4076C>G
n.803C>G
c.2872C>G (p.Leu958Val)
c.2647C>G (p.Leu883Val)
c.3742C>G (p.Leu1248Val)
c.1715C>G
c.*1038C>G (n.*1038C>G)
n.4681C>G
n.3282C>G
c.3793C>G (p.Leu1265Val)
c.3841C>G (p.Leu1281Val)
c.3901C>G (p.Leu1301Val)
c.3451C>G (p.Leu1151Val)
c.1753C>G (p.Leu585Val)
c.1570C>G (p.Leu524Val)
c.3802C>G (p.Leu1268Val)
c.3754C>G (p.Leu1252Val)
c.3523C>G (p.Leu1175Val)
c.3424C>G (p.Leu1142Val)
c.2605C>G (p.Leu869Val)
n.4156C>G
13g.51937360G>TCA388021158ATP7Bc.*1587C>A (n.*1587C>A)
c.*2681C>A (n.*2681C>A)
c.3316C>A (p.Leu1106Ile)
c.3937C>A (p.Leu1313Ile)
c.3604C>A (p.Leu1202Ile)
c.3685C>A (p.Leu1229Ile)
n.1260C>A
c.3703C>A (p.Leu1235Ile)
n.4076C>A
n.803C>A
c.2872C>A (p.Leu958Ile)
c.2647C>A (p.Leu883Ile)
c.3742C>A (p.Leu1248Ile)
c.1715C>A
c.*1038C>A (n.*1038C>A)
n.4681C>A
n.3282C>A
c.3793C>A (p.Leu1265Ile)
c.3841C>A (p.Leu1281Ile)
c.3901C>A (p.Leu1301Ile)
c.3451C>A (p.Leu1151Ile)
c.1753C>A (p.Leu585Ile)
c.1570C>A (p.Leu524Ile)
c.3802C>A (p.Leu1268Ile)
c.3754C>A (p.Leu1252Ile)
c.3523C>A (p.Leu1175Ile)
c.3424C>A (p.Leu1142Ile)
c.2605C>A (p.Leu869Ile)
n.4156C>A
13g.51937361G>ACA484024245ATP7Bc.*1586C>T (n.*1586C>T)
c.*2680C>T (n.*2680C>T)
c.3315C>T (p.His1105=)
c.3936C>T (p.His1312=)
c.3603C>T (p.His1201=)
c.3684C>T (p.His1228=)
n.1259C>T
c.3702C>T (p.His1234=)
n.4075C>T
n.802C>T
c.2871C>T (p.His957=)
c.2646C>T (p.His882=)
c.3741C>T (p.His1247=)
c.1714C>T
c.*1037C>T (n.*1037C>T)
n.4680C>T
n.3281C>T
c.3792C>T (p.His1264=)
c.3840C>T (p.His1280=)
c.3900C>T (p.His1300=)
c.3450C>T (p.His1150=)
c.1752C>T (p.His584=)
c.1569C>T (p.His523=)
c.3801C>T (p.His1267=)
c.3753C>T (p.His1251=)
c.3522C>T (p.His1174=)
c.3423C>T (p.His1141=)
c.2604C>T (p.His868=)
n.4155C>T
 ClinVar dbSNP gnomAD v4
13g.51937361G>CCA388021160ATP7Bc.*1586C>G (n.*1586C>G)
c.*2680C>G (n.*2680C>G)
c.3315C>G (p.His1105Gln)
c.3936C>G (p.His1312Gln)
c.3603C>G (p.His1201Gln)
c.3684C>G (p.His1228Gln)
n.1259C>G
c.3702C>G (p.His1234Gln)
n.4075C>G
n.802C>G
c.2871C>G (p.His957Gln)
c.2646C>G (p.His882Gln)
c.3741C>G (p.His1247Gln)
c.1714C>G
c.*1037C>G (n.*1037C>G)
n.4680C>G
n.3281C>G
c.3792C>G (p.His1264Gln)
c.3840C>G (p.His1280Gln)
c.3900C>G (p.His1300Gln)
c.3450C>G (p.His1150Gln)
c.1752C>G (p.His584Gln)
c.1569C>G (p.His523Gln)
c.3801C>G (p.His1267Gln)
c.3753C>G (p.His1251Gln)
c.3522C>G (p.His1174Gln)
c.3423C>G (p.His1141Gln)
c.2604C>G (p.His868Gln)
n.4155C>G
 gnomAD v4
13g.51937361G=CA2091553504ATP7Bc.*1586C= (n.*1586C=)
c.*2680C= (n.*2680C=)
c.3315C= (p.His1105=)
c.3936C= (p.His1312=)
c.3603C= (p.His1201=)
c.3684C= (p.His1228=)
n.1259C=
c.3702C= (p.His1234=)
n.4075C=
n.802C=
c.2871C= (p.His957=)
c.2646C= (p.His882=)
c.3741C= (p.His1247=)
c.1714C=
c.*1037C= (n.*1037C=)
n.4680C=
n.3281C=
c.3792C= (p.His1264=)
c.3840C= (p.His1280=)
c.3900C= (p.His1300=)
c.3450C= (p.His1150=)
c.1752C= (p.His584=)
c.1569C= (p.His523=)
c.3801C= (p.His1267=)
c.3753C= (p.His1251=)
c.3522C= (p.His1174=)
c.3423C= (p.His1141=)
c.2604C= (p.His868=)
n.4155C=
13g.51937361G>TCA388021161ATP7Bc.*1586C>A (n.*1586C>A)
c.*2680C>A (n.*2680C>A)
c.3315C>A (p.His1105Gln)
c.3936C>A (p.His1312Gln)
c.3603C>A (p.His1201Gln)
c.3684C>A (p.His1228Gln)
n.1259C>A
c.3702C>A (p.His1234Gln)
n.4075C>A
n.802C>A
c.2871C>A (p.His957Gln)
c.2646C>A (p.His882Gln)
c.3741C>A (p.His1247Gln)
c.1714C>A
c.*1037C>A (n.*1037C>A)
n.4680C>A
n.3281C>A
c.3792C>A (p.His1264Gln)
c.3840C>A (p.His1280Gln)
c.3900C>A (p.His1300Gln)
c.3450C>A (p.His1150Gln)
c.1752C>A (p.His584Gln)
c.1569C>A (p.His523Gln)
c.3801C>A (p.His1267Gln)
c.3753C>A (p.His1251Gln)
c.3522C>A (p.His1174Gln)
c.3423C>A (p.His1141Gln)
c.2604C>A (p.His868Gln)
n.4155C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51937362_51937363delCA2580087700ATP7Bc.*1585_*1586del (n.*1585_*1586del)
c.*2679_*2680del (n.*2679_*2680del)
c.3314_3315del (p.His1105ProfsTer20)
c.3935_3936del (p.His1312ProfsTer20)
c.3602_3603del (p.His1201ProfsTer20)
c.3683_3684del (p.His1228ProfsTer20)
n.1258_1259del
c.3701_3702del (p.His1234ProfsTer20)
n.4074_4075del
n.801_802del
c.2870_2871del (p.His957ProfsTer20)
c.2645_2646del (p.His882ProfsTer20)
c.3740_3741del (p.His1247ProfsTer20)
c.1713_1714del
c.*1036_*1037del (n.*1036_*1037del)
n.4679_4680del
n.3280_3281del
c.3791_3792del (p.His1264ProfsTer20)
c.3839_3840del (p.His1280ProfsTer20)
c.3899_3900del (p.His1300ProfsTer20)
c.3449_3450del (p.His1150ProfsTer20)
c.1751_1752del (p.His584ProfsTer20)
c.1568_1569del (p.His523ProfsTer20)
c.3800_3801del (p.His1267ProfsTer20)
c.3752_3753del (p.His1251ProfsTer20)
c.3521_3522del (p.His1174ProfsTer20)
c.3422_3423del (p.His1141ProfsTer20)
c.2603_2604del (p.His868ProfsTer20)
n.4154_4155del
 ClinVar
13g.51937362T>ACA388021167ATP7Bc.*1585A>T (n.*1585A>T)
c.*2679A>T (n.*2679A>T)
c.3314A>T (p.His1105Leu)
c.3935A>T (p.His1312Leu)
c.3602A>T (p.His1201Leu)
c.3683A>T (p.His1228Leu)
n.1258A>T
c.3701A>T (p.His1234Leu)
n.4074A>T
n.801A>T
c.2870A>T (p.His957Leu)
c.2645A>T (p.His882Leu)
c.3740A>T (p.His1247Leu)
c.1713A>T
c.*1036A>T (n.*1036A>T)
n.4679A>T
n.3280A>T
c.3791A>T (p.His1264Leu)
c.3839A>T (p.His1280Leu)
c.3899A>T (p.His1300Leu)
c.3449A>T (p.His1150Leu)
c.1751A>T (p.His584Leu)
c.1568A>T (p.His523Leu)
c.3800A>T (p.His1267Leu)
c.3752A>T (p.His1251Leu)
c.3521A>T (p.His1174Leu)
c.3422A>T (p.His1141Leu)
c.2603A>T (p.His868Leu)
n.4154A>T
13g.51937362T>CCA388021165ATP7Bc.*1585A>G (n.*1585A>G)
c.*2679A>G (n.*2679A>G)
c.3314A>G (p.His1105Arg)
c.3935A>G (p.His1312Arg)
c.3602A>G (p.His1201Arg)
c.3683A>G (p.His1228Arg)
n.1258A>G
c.3701A>G (p.His1234Arg)
n.4074A>G
n.801A>G
c.2870A>G (p.His957Arg)
c.2645A>G (p.His882Arg)
c.3740A>G (p.His1247Arg)
c.1713A>G
c.*1036A>G (n.*1036A>G)
n.4679A>G
n.3280A>G
c.3791A>G (p.His1264Arg)
c.3839A>G (p.His1280Arg)
c.3899A>G (p.His1300Arg)
c.3449A>G (p.His1150Arg)
c.1751A>G (p.His584Arg)
c.1568A>G (p.His523Arg)
c.3800A>G (p.His1267Arg)
c.3752A>G (p.His1251Arg)
c.3521A>G (p.His1174Arg)
c.3422A>G (p.His1141Arg)
c.2603A>G (p.His868Arg)
n.4154A>G
13g.51937362T>GCA388021163ATP7Bc.*1585A>C (n.*1585A>C)
c.*2679A>C (n.*2679A>C)
c.3314A>C (p.His1105Pro)
c.3935A>C (p.His1312Pro)
c.3602A>C (p.His1201Pro)
c.3683A>C (p.His1228Pro)
n.1258A>C
c.3701A>C (p.His1234Pro)
n.4074A>C
n.801A>C
c.2870A>C (p.His957Pro)
c.2645A>C (p.His882Pro)
c.3740A>C (p.His1247Pro)
c.1713A>C
c.*1036A>C (n.*1036A>C)
n.4679A>C
n.3280A>C
c.3791A>C (p.His1264Pro)
c.3839A>C (p.His1280Pro)
c.3899A>C (p.His1300Pro)
c.3449A>C (p.His1150Pro)
c.1751A>C (p.His584Pro)
c.1568A>C (p.His523Pro)
c.3800A>C (p.His1267Pro)
c.3752A>C (p.His1251Pro)
c.3521A>C (p.His1174Pro)
c.3422A>C (p.His1141Pro)
c.2603A>C (p.His868Pro)
n.4154A>C
13g.51937363G>ACA388021168ATP7Bc.*1584C>T (n.*1584C>T)
c.*2678C>T (n.*2678C>T)
c.3313C>T (p.His1105Tyr)
c.3934C>T (p.His1312Tyr)
c.3601C>T (p.His1201Tyr)
c.3682C>T (p.His1228Tyr)
n.1257C>T
c.3700C>T (p.His1234Tyr)
n.4073C>T
n.800C>T
c.2869C>T (p.His957Tyr)
c.2644C>T (p.His882Tyr)
c.3739C>T (p.His1247Tyr)
c.1712C>T
c.*1035C>T (n.*1035C>T)
n.4678C>T
n.3279C>T
c.3790C>T (p.His1264Tyr)
c.3838C>T (p.His1280Tyr)
c.3898C>T (p.His1300Tyr)
c.3448C>T (p.His1150Tyr)
c.1750C>T (p.His584Tyr)
c.1567C>T (p.His523Tyr)
c.3799C>T (p.His1267Tyr)
c.3751C>T (p.His1251Tyr)
c.3520C>T (p.His1174Tyr)
c.3421C>T (p.His1141Tyr)
c.2602C>T (p.His868Tyr)
n.4153C>T
13g.51937363G>CCA388021170ATP7Bc.*1584C>G (n.*1584C>G)
c.*2678C>G (n.*2678C>G)
c.3313C>G (p.His1105Asp)
c.3934C>G (p.His1312Asp)
c.3601C>G (p.His1201Asp)
c.3682C>G (p.His1228Asp)
n.1257C>G
c.3700C>G (p.His1234Asp)
n.4073C>G
n.800C>G
c.2869C>G (p.His957Asp)
c.2644C>G (p.His882Asp)
c.3739C>G (p.His1247Asp)
c.1712C>G
c.*1035C>G (n.*1035C>G)
n.4678C>G
n.3279C>G
c.3790C>G (p.His1264Asp)
c.3838C>G (p.His1280Asp)
c.3898C>G (p.His1300Asp)
c.3448C>G (p.His1150Asp)
c.1750C>G (p.His584Asp)
c.1567C>G (p.His523Asp)
c.3799C>G (p.His1267Asp)
c.3751C>G (p.His1251Asp)
c.3520C>G (p.His1174Asp)
c.3421C>G (p.His1141Asp)
c.2602C>G (p.His868Asp)
n.4153C>G
13g.51937363G>TCA388021171ATP7Bc.*1584C>A (n.*1584C>A)
c.*2678C>A (n.*2678C>A)
c.3313C>A (p.His1105Asn)
c.3934C>A (p.His1312Asn)
c.3601C>A (p.His1201Asn)
c.3682C>A (p.His1228Asn)
n.1257C>A
c.3700C>A (p.His1234Asn)
n.4073C>A
n.800C>A
c.2869C>A (p.His957Asn)
c.2644C>A (p.His882Asn)
c.3739C>A (p.His1247Asn)
c.1712C>A
c.*1035C>A (n.*1035C>A)
n.4678C>A
n.3279C>A
c.3790C>A (p.His1264Asn)
c.3838C>A (p.His1280Asn)
c.3898C>A (p.His1300Asn)
c.3448C>A (p.His1150Asn)
c.1750C>A (p.His584Asn)
c.1567C>A (p.His523Asn)
c.3799C>A (p.His1267Asn)
c.3751C>A (p.His1251Asn)
c.3520C>A (p.His1174Asn)
c.3421C>A (p.His1141Asn)
c.2602C>A (p.His868Asn)
n.4153C>A
 gnomAD v4
13g.51937364A>CCA388021172ATP7Bc.*1583T>G (n.*1583T>G)
c.*2677T>G (n.*2677T>G)
c.3312T>G (p.Ile1104Met)
c.3933T>G (p.Ile1311Met)
c.3600T>G (p.Ile1200Met)
c.3681T>G (p.Ile1227Met)
n.1256T>G
c.3699T>G (p.Ile1233Met)
n.4072T>G
n.799T>G
c.2868T>G (p.Ile956Met)
c.2643T>G (p.Ile881Met)
c.3738T>G (p.Ile1246Met)
c.1711T>G
c.*1034T>G (n.*1034T>G)
n.4677T>G
n.3278T>G
c.3789T>G (p.Ile1263Met)
c.3837T>G (p.Ile1279Met)
c.3897T>G (p.Ile1299Met)
c.3447T>G (p.Ile1149Met)
c.1749T>G (p.Ile583Met)
c.1566T>G (p.Ile522Met)
c.3798T>G (p.Ile1266Met)
c.3750T>G (p.Ile1250Met)
c.3519T>G (p.Ile1173Met)
c.3420T>G (p.Ile1140Met)
c.2601T>G (p.Ile867Met)
n.4152T>G
13g.51937364A>GCA484024246ATP7Bc.*1583T>C (n.*1583T>C)
c.*2677T>C (n.*2677T>C)
c.3312T>C (p.Ile1104=)
c.3933T>C (p.Ile1311=)
c.3600T>C (p.Ile1200=)
c.3681T>C (p.Ile1227=)
n.1256T>C
c.3699T>C (p.Ile1233=)
n.4072T>C
n.799T>C
c.2868T>C (p.Ile956=)
c.2643T>C (p.Ile881=)
c.3738T>C (p.Ile1246=)
c.1711T>C
c.*1034T>C (n.*1034T>C)
n.4677T>C
n.3278T>C
c.3789T>C (p.Ile1263=)
c.3837T>C (p.Ile1279=)
c.3897T>C (p.Ile1299=)
c.3447T>C (p.Ile1149=)
c.1749T>C (p.Ile583=)
c.1566T>C (p.Ile522=)
c.3798T>C (p.Ile1266=)
c.3750T>C (p.Ile1250=)
c.3519T>C (p.Ile1173=)
c.3420T>C (p.Ile1140=)
c.2601T>C (p.Ile867=)
n.4152T>C
 gnomAD v4
13g.51937364A>TCA484024247ATP7Bc.*1583T>A (n.*1583T>A)
c.*2677T>A (n.*2677T>A)
c.3312T>A (p.Ile1104=)
c.3933T>A (p.Ile1311=)
c.3600T>A (p.Ile1200=)
c.3681T>A (p.Ile1227=)
n.1256T>A
c.3699T>A (p.Ile1233=)
n.4072T>A
n.799T>A
c.2868T>A (p.Ile956=)
c.2643T>A (p.Ile881=)
c.3738T>A (p.Ile1246=)
c.1711T>A
c.*1034T>A (n.*1034T>A)
n.4677T>A
n.3278T>A
c.3789T>A (p.Ile1263=)
c.3837T>A (p.Ile1279=)
c.3897T>A (p.Ile1299=)
c.3447T>A (p.Ile1149=)
c.1749T>A (p.Ile583=)
c.1566T>A (p.Ile522=)
c.3798T>A (p.Ile1266=)
c.3750T>A (p.Ile1250=)
c.3519T>A (p.Ile1173=)
c.3420T>A (p.Ile1140=)
c.2601T>A (p.Ile867=)
n.4152T>A
13g.51937365A>CCA388021174ATP7Bc.*1582T>G (n.*1582T>G)
c.*2676T>G (n.*2676T>G)
c.3311T>G (p.Ile1104Ser)
c.3932T>G (p.Ile1311Ser)
c.3599T>G (p.Ile1200Ser)
c.3680T>G (p.Ile1227Ser)
n.1255T>G
c.3698T>G (p.Ile1233Ser)
n.4071T>G
n.798T>G
c.2867T>G (p.Ile956Ser)
c.2642T>G (p.Ile881Ser)
c.3737T>G (p.Ile1246Ser)
c.1710T>G
c.*1033T>G (n.*1033T>G)
n.4676T>G
n.3277T>G
c.3788T>G (p.Ile1263Ser)
c.3836T>G (p.Ile1279Ser)
c.3896T>G (p.Ile1299Ser)
c.3446T>G (p.Ile1149Ser)
c.1748T>G (p.Ile583Ser)
c.1565T>G (p.Ile522Ser)
c.3797T>G (p.Ile1266Ser)
c.3749T>G (p.Ile1250Ser)
c.3518T>G (p.Ile1173Ser)
c.3419T>G (p.Ile1140Ser)
c.2600T>G (p.Ile867Ser)
n.4151T>G
 ClinVar dbSNP
13g.51937365A>GCA388021175ATP7Bc.*1582T>C (n.*1582T>C)
c.*2676T>C (n.*2676T>C)
c.3311T>C (p.Ile1104Thr)
c.3932T>C (p.Ile1311Thr)
c.3599T>C (p.Ile1200Thr)
c.3680T>C (p.Ile1227Thr)
n.1255T>C
c.3698T>C (p.Ile1233Thr)
n.4071T>C
n.798T>C
c.2867T>C (p.Ile956Thr)
c.2642T>C (p.Ile881Thr)
c.3737T>C (p.Ile1246Thr)
c.1710T>C
c.*1033T>C (n.*1033T>C)
n.4676T>C
n.3277T>C
c.3788T>C (p.Ile1263Thr)
c.3836T>C (p.Ile1279Thr)
c.3896T>C (p.Ile1299Thr)
c.3446T>C (p.Ile1149Thr)
c.1748T>C (p.Ile583Thr)
c.1565T>C (p.Ile522Thr)
c.3797T>C (p.Ile1266Thr)
c.3749T>C (p.Ile1250Thr)
c.3518T>C (p.Ile1173Thr)
c.3419T>C (p.Ile1140Thr)
c.2600T>C (p.Ile867Thr)
n.4151T>C
13g.51937365A>TCA388021176ATP7Bc.*1582T>A (n.*1582T>A)
c.*2676T>A (n.*2676T>A)
c.3311T>A (p.Ile1104Asn)
c.3932T>A (p.Ile1311Asn)
c.3599T>A (p.Ile1200Asn)
c.3680T>A (p.Ile1227Asn)
n.1255T>A
c.3698T>A (p.Ile1233Asn)
n.4071T>A
n.798T>A
c.2867T>A (p.Ile956Asn)
c.2642T>A (p.Ile881Asn)
c.3737T>A (p.Ile1246Asn)
c.1710T>A
c.*1033T>A (n.*1033T>A)
n.4676T>A
n.3277T>A
c.3788T>A (p.Ile1263Asn)
c.3836T>A (p.Ile1279Asn)
c.3896T>A (p.Ile1299Asn)
c.3446T>A (p.Ile1149Asn)
c.1748T>A (p.Ile583Asn)
c.1565T>A (p.Ile522Asn)
c.3797T>A (p.Ile1266Asn)
c.3749T>A (p.Ile1250Asn)
c.3518T>A (p.Ile1173Asn)
c.3419T>A (p.Ile1140Asn)
c.2600T>A (p.Ile867Asn)
n.4151T>A
13g.51937366T>ACA388021178ATP7Bc.*1581A>T (n.*1581A>T)
c.*2675A>T (n.*2675A>T)
c.3310A>T (p.Ile1104Phe)
c.3931A>T (p.Ile1311Phe)
c.3598A>T (p.Ile1200Phe)
c.3679A>T (p.Ile1227Phe)
n.1254A>T
c.3697A>T (p.Ile1233Phe)
n.4070A>T
n.797A>T
c.2866A>T (p.Ile956Phe)
c.2641A>T (p.Ile881Phe)
c.3736A>T (p.Ile1246Phe)
c.1709A>T
c.*1032A>T (n.*1032A>T)
n.4675A>T
n.3276A>T
c.3787A>T (p.Ile1263Phe)
c.3835A>T (p.Ile1279Phe)
c.3895A>T (p.Ile1299Phe)
c.3445A>T (p.Ile1149Phe)
c.1747A>T (p.Ile583Phe)
c.1564A>T (p.Ile522Phe)
c.3796A>T (p.Ile1266Phe)
c.3748A>T (p.Ile1250Phe)
c.3517A>T (p.Ile1173Phe)
c.3418A>T (p.Ile1140Phe)
c.2599A>T (p.Ile867Phe)
n.4150A>T
13g.51937366T>CCA388021179ATP7Bc.*1581A>G (n.*1581A>G)
c.*2675A>G (n.*2675A>G)
c.3310A>G (p.Ile1104Val)
c.3931A>G (p.Ile1311Val)
c.3598A>G (p.Ile1200Val)
c.3679A>G (p.Ile1227Val)
n.1254A>G
c.3697A>G (p.Ile1233Val)
n.4070A>G
n.797A>G
c.2866A>G (p.Ile956Val)
c.2641A>G (p.Ile881Val)
c.3736A>G (p.Ile1246Val)
c.1709A>G
c.*1032A>G (n.*1032A>G)
n.4675A>G
n.3276A>G
c.3787A>G (p.Ile1263Val)
c.3835A>G (p.Ile1279Val)
c.3895A>G (p.Ile1299Val)
c.3445A>G (p.Ile1149Val)
c.1747A>G (p.Ile583Val)
c.1564A>G (p.Ile522Val)
c.3796A>G (p.Ile1266Val)
c.3748A>G (p.Ile1250Val)
c.3517A>G (p.Ile1173Val)
c.3418A>G (p.Ile1140Val)
c.2599A>G (p.Ile867Val)
n.4150A>G
13g.51937366T>GCA388021181ATP7Bc.*1581A>C (n.*1581A>C)
c.*2675A>C (n.*2675A>C)
c.3310A>C (p.Ile1104Leu)
c.3931A>C (p.Ile1311Leu)
c.3598A>C (p.Ile1200Leu)
c.3679A>C (p.Ile1227Leu)
n.1254A>C
c.3697A>C (p.Ile1233Leu)
n.4070A>C
n.797A>C
c.2866A>C (p.Ile956Leu)
c.2641A>C (p.Ile881Leu)
c.3736A>C (p.Ile1246Leu)
c.1709A>C
c.*1032A>C (n.*1032A>C)
n.4675A>C
n.3276A>C
c.3787A>C (p.Ile1263Leu)
c.3835A>C (p.Ile1279Leu)
c.3895A>C (p.Ile1299Leu)
c.3445A>C (p.Ile1149Leu)
c.1747A>C (p.Ile583Leu)
c.1564A>C (p.Ile522Leu)
c.3796A>C (p.Ile1266Leu)
c.3748A>C (p.Ile1250Leu)
c.3517A>C (p.Ile1173Leu)
c.3418A>C (p.Ile1140Leu)
c.2599A>C (p.Ile867Leu)
n.4150A>C
13g.51937366_51937369delCA2623119089ATP7Bc.*1578_*1581del (n.*1578_*1581del)
c.*2672_*2675del (n.*2672_*2675del)
c.3307_3310del (p.Ser1103PhefsTer19)
c.3928_3931del (p.Ser1310PhefsTer19)
c.3595_3598del (p.Ser1199PhefsTer19)
c.3676_3679del (p.Ser1226PhefsTer19)
n.1251_1254del
c.3694_3697del (p.Ser1232PhefsTer19)
n.4067_4070del
n.794_797del
c.2863_2866del (p.Ser955PhefsTer19)
c.2638_2641del (p.Ser880PhefsTer19)
c.3733_3736del (p.Ser1245PhefsTer19)
c.1706_1709del
c.*1029_*1032del (n.*1029_*1032del)
n.4672_4675del
n.3273_3276del
c.3784_3787del (p.Ser1262PhefsTer19)
c.3832_3835del (p.Ser1278PhefsTer19)
c.3892_3895del (p.Ser1298PhefsTer19)
c.3442_3445del (p.Ser1148PhefsTer19)
c.1744_1747del (p.Ser582PhefsTer19)
c.1561_1564del (p.Ser521PhefsTer19)
c.3793_3796del (p.Ser1265PhefsTer19)
c.3745_3748del (p.Ser1249PhefsTer19)
c.3514_3517del (p.Ser1172PhefsTer19)
c.3415_3418del (p.Ser1139PhefsTer19)
c.2596_2599del (p.Ser866PhefsTer19)
n.4147_4150del
 gnomAD v4
13g.51937367G>ACA484024248ATP7Bc.*1580C>T (n.*1580C>T)
c.*2674C>T (n.*2674C>T)
c.3309C>T (p.Ser1103=)
c.3930C>T (p.Ser1310=)
c.3597C>T (p.Ser1199=)
c.3678C>T (p.Ser1226=)
n.1253C>T
c.3696C>T (p.Ser1232=)
n.4069C>T
n.796C>T
c.2865C>T (p.Ser955=)
c.2640C>T (p.Ser880=)
c.3735C>T (p.Ser1245=)
c.1708C>T
c.*1031C>T (n.*1031C>T)
n.4674C>T
n.3275C>T
c.3786C>T (p.Ser1262=)
c.3834C>T (p.Ser1278=)
c.3894C>T (p.Ser1298=)
c.3444C>T (p.Ser1148=)
c.1746C>T (p.Ser582=)
c.1563C>T (p.Ser521=)
c.3795C>T (p.Ser1265=)
c.3747C>T (p.Ser1249=)
c.3516C>T (p.Ser1172=)
c.3417C>T (p.Ser1139=)
c.2598C>T (p.Ser866=)
n.4149C>T
13g.51937367G>CCA6988532ATP7Bc.*1580C>G (n.*1580C>G)
c.*2674C>G (n.*2674C>G)
c.3309C>G (p.Ser1103Arg)
c.3930C>G (p.Ser1310Arg)
c.3597C>G (p.Ser1199Arg)
c.3678C>G (p.Ser1226Arg)
n.1253C>G
c.3696C>G (p.Ser1232Arg)
n.4069C>G
n.796C>G
c.2865C>G (p.Ser955Arg)
c.2640C>G (p.Ser880Arg)
c.3735C>G (p.Ser1245Arg)
c.1708C>G
c.*1031C>G (n.*1031C>G)
n.4674C>G
n.3275C>G
c.3786C>G (p.Ser1262Arg)
c.3834C>G (p.Ser1278Arg)
c.3894C>G (p.Ser1298Arg)
c.3444C>G (p.Ser1148Arg)
c.1746C>G (p.Ser582Arg)
c.1563C>G (p.Ser521Arg)
c.3795C>G (p.Ser1265Arg)
c.3747C>G (p.Ser1249Arg)
c.3516C>G (p.Ser1172Arg)
c.3417C>G (p.Ser1139Arg)
c.2598C>G (p.Ser866Arg)
n.4149C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51937367G=CA2091553506ATP7Bc.*1580C= (n.*1580C=)
c.*2674C= (n.*2674C=)
c.3309C= (p.Ser1103=)
c.3930C= (p.Ser1310=)
c.3597C= (p.Ser1199=)
c.3678C= (p.Ser1226=)
n.1253C=
c.3696C= (p.Ser1232=)
n.4069C=
n.796C=
c.2865C= (p.Ser955=)
c.2640C= (p.Ser880=)
c.3735C= (p.Ser1245=)
c.1708C=
c.*1031C= (n.*1031C=)
n.4674C=
n.3275C=
c.3786C= (p.Ser1262=)
c.3834C= (p.Ser1278=)
c.3894C= (p.Ser1298=)
c.3444C= (p.Ser1148=)
c.1746C= (p.Ser582=)
c.1563C= (p.Ser521=)
c.3795C= (p.Ser1265=)
c.3747C= (p.Ser1249=)
c.3516C= (p.Ser1172=)
c.3417C= (p.Ser1139=)
c.2598C= (p.Ser866=)
n.4149C=
13g.51937367G>TCA388021183ATP7Bc.*1580C>A (n.*1580C>A)
c.*2674C>A (n.*2674C>A)
c.3309C>A (p.Ser1103Arg)
c.3930C>A (p.Ser1310Arg)
c.3597C>A (p.Ser1199Arg)
c.3678C>A (p.Ser1226Arg)
n.1253C>A
c.3696C>A (p.Ser1232Arg)
n.4069C>A
n.796C>A
c.2865C>A (p.Ser955Arg)
c.2640C>A (p.Ser880Arg)
c.3735C>A (p.Ser1245Arg)
c.1708C>A
c.*1031C>A (n.*1031C>A)
n.4674C>A
n.3275C>A
c.3786C>A (p.Ser1262Arg)
c.3834C>A (p.Ser1278Arg)
c.3894C>A (p.Ser1298Arg)
c.3444C>A (p.Ser1148Arg)
c.1746C>A (p.Ser582Arg)
c.1563C>A (p.Ser521Arg)
c.3795C>A (p.Ser1265Arg)
c.3747C>A (p.Ser1249Arg)
c.3516C>A (p.Ser1172Arg)
c.3417C>A (p.Ser1139Arg)
c.2598C>A (p.Ser866Arg)
n.4149C>A
13g.51937368C>ACA250073402ATP7Bc.*1579G>T (n.*1579G>T)
c.*2673G>T (n.*2673G>T)
c.3308G>T (p.Ser1103Ile)
c.3929G>T (p.Ser1310Ile)
c.3596G>T (p.Ser1199Ile)
c.3677G>T (p.Ser1226Ile)
n.1252G>T
c.3695G>T (p.Ser1232Ile)
n.4068G>T
n.795G>T
c.2864G>T (p.Ser955Ile)
c.2639G>T (p.Ser880Ile)
c.3734G>T (p.Ser1245Ile)
c.1707G>T
c.*1030G>T (n.*1030G>T)
n.4673G>T
n.3274G>T
c.3785G>T (p.Ser1262Ile)
c.3833G>T (p.Ser1278Ile)
c.3893G>T (p.Ser1298Ile)
c.3443G>T (p.Ser1148Ile)
c.1745G>T (p.Ser582Ile)
c.1562G>T (p.Ser521Ile)
c.3794G>T (p.Ser1265Ile)
c.3746G>T (p.Ser1249Ile)
c.3515G>T (p.Ser1172Ile)
c.3416G>T (p.Ser1139Ile)
c.2597G>T (p.Ser866Ile)
n.4148G>T
 dbSNP gnomAD v4
13g.51937368C=CA2091553511ATP7Bc.*1579G= (n.*1579G=)
c.*2673G= (n.*2673G=)
c.3308G= (p.Ser1103=)
c.3929G= (p.Ser1310=)
c.3596G= (p.Ser1199=)
c.3677G= (p.Ser1226=)
n.1252G=
c.3695G= (p.Ser1232=)
n.4068G=
n.795G=
c.2864G= (p.Ser955=)
c.2639G= (p.Ser880=)
c.3734G= (p.Ser1245=)
c.1707G=
c.*1030G= (n.*1030G=)
n.4673G=
n.3274G=
c.3785G= (p.Ser1262=)
c.3833G= (p.Ser1278=)
c.3893G= (p.Ser1298=)
c.3443G= (p.Ser1148=)
c.1745G= (p.Ser582=)
c.1562G= (p.Ser521=)
c.3794G= (p.Ser1265=)
c.3746G= (p.Ser1249=)
c.3515G= (p.Ser1172=)
c.3416G= (p.Ser1139=)
c.2597G= (p.Ser866=)
n.4148G=
13g.51937368C>GCA6988533ATP7Bc.*1579G>C (n.*1579G>C)
c.*2673G>C (n.*2673G>C)
c.3308G>C (p.Ser1103Thr)
c.3929G>C (p.Ser1310Thr)
c.3596G>C (p.Ser1199Thr)
c.3677G>C (p.Ser1226Thr)
n.1252G>C
c.3695G>C (p.Ser1232Thr)
n.4068G>C
n.795G>C
c.2864G>C (p.Ser955Thr)
c.2639G>C (p.Ser880Thr)
c.3734G>C (p.Ser1245Thr)
c.1707G>C
c.*1030G>C (n.*1030G>C)
n.4673G>C
n.3274G>C
c.3785G>C (p.Ser1262Thr)
c.3833G>C (p.Ser1278Thr)
c.3893G>C (p.Ser1298Thr)
c.3443G>C (p.Ser1148Thr)
c.1745G>C (p.Ser582Thr)
c.1562G>C (p.Ser521Thr)
c.3794G>C (p.Ser1265Thr)
c.3746G>C (p.Ser1249Thr)
c.3515G>C (p.Ser1172Thr)
c.3416G>C (p.Ser1139Thr)
c.2597G>C (p.Ser866Thr)
n.4148G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51937368C>TCA388021185ATP7Bc.*1579G>A (n.*1579G>A)
c.*2673G>A (n.*2673G>A)
c.3308G>A (p.Ser1103Asn)
c.3929G>A (p.Ser1310Asn)
c.3596G>A (p.Ser1199Asn)
c.3677G>A (p.Ser1226Asn)
n.1252G>A
c.3695G>A (p.Ser1232Asn)
n.4068G>A
n.795G>A
c.2864G>A (p.Ser955Asn)
c.2639G>A (p.Ser880Asn)
c.3734G>A (p.Ser1245Asn)
c.1707G>A
c.*1030G>A (n.*1030G>A)
n.4673G>A
n.3274G>A
c.3785G>A (p.Ser1262Asn)
c.3833G>A (p.Ser1278Asn)
c.3893G>A (p.Ser1298Asn)
c.3443G>A (p.Ser1148Asn)
c.1745G>A (p.Ser582Asn)
c.1562G>A (p.Ser521Asn)
c.3794G>A (p.Ser1265Asn)
c.3746G>A (p.Ser1249Asn)
c.3515G>A (p.Ser1172Asn)
c.3416G>A (p.Ser1139Asn)
c.2597G>A (p.Ser866Asn)
n.4148G>A
 ClinVar gnomAD v4
13g.51937369T>ACA388021187ATP7Bc.*1578A>T (n.*1578A>T)
c.*2672A>T (n.*2672A>T)
c.3307A>T (p.Ser1103Cys)
c.3928A>T (p.Ser1310Cys)
c.3595A>T (p.Ser1199Cys)
c.3676A>T (p.Ser1226Cys)
n.1251A>T
c.3694A>T (p.Ser1232Cys)
n.4067A>T
n.794A>T
c.2863A>T (p.Ser955Cys)
c.2638A>T (p.Ser880Cys)
c.3733A>T (p.Ser1245Cys)
c.1706A>T
c.*1029A>T (n.*1029A>T)
n.4672A>T
n.3273A>T
c.3784A>T (p.Ser1262Cys)
c.3832A>T (p.Ser1278Cys)
c.3892A>T (p.Ser1298Cys)
c.3442A>T (p.Ser1148Cys)
c.1744A>T (p.Ser582Cys)
c.1561A>T (p.Ser521Cys)
c.3793A>T (p.Ser1265Cys)
c.3745A>T (p.Ser1249Cys)
c.3514A>T (p.Ser1172Cys)
c.3415A>T (p.Ser1139Cys)
c.2596A>T (p.Ser866Cys)
n.4147A>T
13g.51937369T>CCA388021189ATP7Bc.*1578A>G (n.*1578A>G)
c.*2672A>G (n.*2672A>G)
c.3307A>G (p.Ser1103Gly)
c.3928A>G (p.Ser1310Gly)
c.3595A>G (p.Ser1199Gly)
c.3676A>G (p.Ser1226Gly)
n.1251A>G
c.3694A>G (p.Ser1232Gly)
n.4067A>G
n.794A>G
c.2863A>G (p.Ser955Gly)
c.2638A>G (p.Ser880Gly)
c.3733A>G (p.Ser1245Gly)
c.1706A>G
c.*1029A>G (n.*1029A>G)
n.4672A>G
n.3273A>G
c.3784A>G (p.Ser1262Gly)
c.3832A>G (p.Ser1278Gly)
c.3892A>G (p.Ser1298Gly)
c.3442A>G (p.Ser1148Gly)
c.1744A>G (p.Ser582Gly)
c.1561A>G (p.Ser521Gly)
c.3793A>G (p.Ser1265Gly)
c.3745A>G (p.Ser1249Gly)
c.3514A>G (p.Ser1172Gly)
c.3415A>G (p.Ser1139Gly)
c.2596A>G (p.Ser866Gly)
n.4147A>G
 ClinVar dbSNP
13g.51937369T>GCA388021190ATP7Bc.*1578A>C (n.*1578A>C)
c.*2672A>C (n.*2672A>C)
c.3307A>C (p.Ser1103Arg)
c.3928A>C (p.Ser1310Arg)
c.3595A>C (p.Ser1199Arg)
c.3676A>C (p.Ser1226Arg)
n.1251A>C
c.3694A>C (p.Ser1232Arg)
n.4067A>C
n.794A>C
c.2863A>C (p.Ser955Arg)
c.2638A>C (p.Ser880Arg)
c.3733A>C (p.Ser1245Arg)
c.1706A>C
c.*1029A>C (n.*1029A>C)
n.4672A>C
n.3273A>C
c.3784A>C (p.Ser1262Arg)
c.3832A>C (p.Ser1278Arg)
c.3892A>C (p.Ser1298Arg)
c.3442A>C (p.Ser1148Arg)
c.1744A>C (p.Ser582Arg)
c.1561A>C (p.Ser521Arg)
c.3793A>C (p.Ser1265Arg)
c.3745A>C (p.Ser1249Arg)
c.3514A>C (p.Ser1172Arg)
c.3415A>C (p.Ser1139Arg)
c.2596A>C (p.Ser866Arg)
n.4147A>C
13g.51937369T=CA2091553512ATP7Bc.*1578A= (n.*1578A=)
c.*2672A= (n.*2672A=)
c.3307A= (p.Ser1103=)
c.3928A= (p.Ser1310=)
c.3595A= (p.Ser1199=)
c.3676A= (p.Ser1226=)
n.1251A=
c.3694A= (p.Ser1232=)
n.4067A=
n.794A=
c.2863A= (p.Ser955=)
c.2638A= (p.Ser880=)
c.3733A= (p.Ser1245=)
c.1706A=
c.*1029A= (n.*1029A=)
n.4672A=
n.3273A=
c.3784A= (p.Ser1262=)
c.3832A= (p.Ser1278=)
c.3892A= (p.Ser1298=)
c.3442A= (p.Ser1148=)
c.1744A= (p.Ser582=)
c.1561A= (p.Ser521=)
c.3793A= (p.Ser1265=)
c.3745A= (p.Ser1249=)
c.3514A= (p.Ser1172=)
c.3415A= (p.Ser1139=)
c.2596A= (p.Ser866=)
n.4147A=
13g.51937370A>CCA484024250ATP7Bc.*1577T>G (n.*1577T>G)
c.*2671T>G (n.*2671T>G)
c.3306T>G (p.Ala1102=)
c.3927T>G (p.Ala1309=)
c.3594T>G (p.Ala1198=)
c.3675T>G (p.Ala1225=)
n.1250T>G
c.3693T>G (p.Ala1231=)
n.4066T>G
n.793T>G
c.2862T>G (p.Ala954=)
c.2637T>G (p.Ala879=)
c.3732T>G (p.Ala1244=)
c.1705T>G
c.*1028T>G (n.*1028T>G)
n.4671T>G
n.3272T>G
c.3783T>G (p.Ala1261=)
c.3831T>G (p.Ala1277=)
c.3891T>G (p.Ala1297=)
c.3441T>G (p.Ala1147=)
c.1743T>G (p.Ala581=)
c.1560T>G (p.Ala520=)
c.3792T>G (p.Ala1264=)
c.3744T>G (p.Ala1248=)
c.3513T>G (p.Ala1171=)
c.3414T>G (p.Ala1138=)
c.2595T>G (p.Ala865=)
n.4146T>G
13g.51937370A>GCA484024251ATP7Bc.*1577T>C (n.*1577T>C)
c.*2671T>C (n.*2671T>C)
c.3306T>C (p.Ala1102=)
c.3927T>C (p.Ala1309=)
c.3594T>C (p.Ala1198=)
c.3675T>C (p.Ala1225=)
n.1250T>C
c.3693T>C (p.Ala1231=)
n.4066T>C
n.793T>C
c.2862T>C (p.Ala954=)
c.2637T>C (p.Ala879=)
c.3732T>C (p.Ala1244=)
c.1705T>C
c.*1028T>C (n.*1028T>C)
n.4671T>C
n.3272T>C
c.3783T>C (p.Ala1261=)
c.3831T>C (p.Ala1277=)
c.3891T>C (p.Ala1297=)
c.3441T>C (p.Ala1147=)
c.1743T>C (p.Ala581=)
c.1560T>C (p.Ala520=)
c.3792T>C (p.Ala1264=)
c.3744T>C (p.Ala1248=)
c.3513T>C (p.Ala1171=)
c.3414T>C (p.Ala1138=)
c.2595T>C (p.Ala865=)
n.4146T>C
 gnomAD v4
13g.51937370A>TCA484024249ATP7Bc.*1577T>A (n.*1577T>A)
c.*2671T>A (n.*2671T>A)
c.3306T>A (p.Ala1102=)
c.3927T>A (p.Ala1309=)
c.3594T>A (p.Ala1198=)
c.3675T>A (p.Ala1225=)
n.1250T>A
c.3693T>A (p.Ala1231=)
n.4066T>A
n.793T>A
c.2862T>A (p.Ala954=)
c.2637T>A (p.Ala879=)
c.3732T>A (p.Ala1244=)
c.1705T>A
c.*1028T>A (n.*1028T>A)
n.4671T>A
n.3272T>A
c.3783T>A (p.Ala1261=)
c.3831T>A (p.Ala1277=)
c.3891T>A (p.Ala1297=)
c.3441T>A (p.Ala1147=)
c.1743T>A (p.Ala581=)
c.1560T>A (p.Ala520=)
c.3792T>A (p.Ala1264=)
c.3744T>A (p.Ala1248=)
c.3513T>A (p.Ala1171=)
c.3414T>A (p.Ala1138=)
c.2595T>A (p.Ala865=)
n.4146T>A
13g.51937371G>ACA388021192ATP7Bc.*1576C>T (n.*1576C>T)
c.*2670C>T (n.*2670C>T)
c.3305C>T (p.Ala1102Val)
c.3926C>T (p.Ala1309Val)
c.3593C>T (p.Ala1198Val)
c.3674C>T (p.Ala1225Val)
n.1249C>T
c.3692C>T (p.Ala1231Val)
n.4065C>T
n.792C>T
c.2861C>T (p.Ala954Val)
c.2636C>T (p.Ala879Val)
c.3731C>T (p.Ala1244Val)
c.1704C>T
c.*1027C>T (n.*1027C>T)
n.4670C>T
n.3271C>T
c.3782C>T (p.Ala1261Val)
c.3830C>T (p.Ala1277Val)
c.3890C>T (p.Ala1297Val)
c.3440C>T (p.Ala1147Val)
c.1742C>T (p.Ala581Val)
c.1559C>T (p.Ala520Val)
c.3791C>T (p.Ala1264Val)
c.3743C>T (p.Ala1248Val)
c.3512C>T (p.Ala1171Val)
c.3413C>T (p.Ala1138Val)
c.2594C>T (p.Ala865Val)
n.4145C>T
 ClinVar
13g.51937371G>CCA388021194ATP7Bc.*1576C>G (n.*1576C>G)
c.*2670C>G (n.*2670C>G)
c.3305C>G (p.Ala1102Gly)
c.3926C>G (p.Ala1309Gly)
c.3593C>G (p.Ala1198Gly)
c.3674C>G (p.Ala1225Gly)
n.1249C>G
c.3692C>G (p.Ala1231Gly)
n.4065C>G
n.792C>G
c.2861C>G (p.Ala954Gly)
c.2636C>G (p.Ala879Gly)
c.3731C>G (p.Ala1244Gly)
c.1704C>G
c.*1027C>G (n.*1027C>G)
n.4670C>G
n.3271C>G
c.3782C>G (p.Ala1261Gly)
c.3830C>G (p.Ala1277Gly)
c.3890C>G (p.Ala1297Gly)
c.3440C>G (p.Ala1147Gly)
c.1742C>G (p.Ala581Gly)
c.1559C>G (p.Ala520Gly)
c.3791C>G (p.Ala1264Gly)
c.3743C>G (p.Ala1248Gly)
c.3512C>G (p.Ala1171Gly)
c.3413C>G (p.Ala1138Gly)
c.2594C>G (p.Ala865Gly)
n.4145C>G
13g.51937371G>TCA388021196ATP7Bc.*1576C>A (n.*1576C>A)
c.*2670C>A (n.*2670C>A)
c.3305C>A (p.Ala1102Asp)
c.3926C>A (p.Ala1309Asp)
c.3593C>A (p.Ala1198Asp)
c.3674C>A (p.Ala1225Asp)
n.1249C>A
c.3692C>A (p.Ala1231Asp)
n.4065C>A
n.792C>A
c.2861C>A (p.Ala954Asp)
c.2636C>A (p.Ala879Asp)
c.3731C>A (p.Ala1244Asp)
c.1704C>A
c.*1027C>A (n.*1027C>A)
n.4670C>A
n.3271C>A
c.3782C>A (p.Ala1261Asp)
c.3830C>A (p.Ala1277Asp)
c.3890C>A (p.Ala1297Asp)
c.3440C>A (p.Ala1147Asp)
c.1742C>A (p.Ala581Asp)
c.1559C>A (p.Ala520Asp)
c.3791C>A (p.Ala1264Asp)
c.3743C>A (p.Ala1248Asp)
c.3512C>A (p.Ala1171Asp)
c.3413C>A (p.Ala1138Asp)
c.2594C>A (p.Ala865Asp)
n.4145C>A
13g.51937372C>ACA388021197ATP7Bc.*1575G>T (n.*1575G>T)
c.*2669G>T (n.*2669G>T)
c.3304G>T (p.Ala1102Ser)
c.3925G>T (p.Ala1309Ser)
c.3592G>T (p.Ala1198Ser)
c.3673G>T (p.Ala1225Ser)
n.1248G>T
c.3691G>T (p.Ala1231Ser)
n.4064G>T
n.791G>T
c.2860G>T (p.Ala954Ser)
c.2635G>T (p.Ala879Ser)
c.3730G>T (p.Ala1244Ser)
c.1703G>T
c.*1026G>T (n.*1026G>T)
n.4669G>T
n.3270G>T
c.3781G>T (p.Ala1261Ser)
c.3829G>T (p.Ala1277Ser)
c.3889G>T (p.Ala1297Ser)
c.3439G>T (p.Ala1147Ser)
c.1741G>T (p.Ala581Ser)
c.1558G>T (p.Ala520Ser)
c.3790G>T (p.Ala1264Ser)
c.3742G>T (p.Ala1248Ser)
c.3511G>T (p.Ala1171Ser)
c.3412G>T (p.Ala1138Ser)
c.2593G>T (p.Ala865Ser)
n.4144G>T
13g.51937372C>GCA388021198ATP7Bc.*1575G>C (n.*1575G>C)
c.*2669G>C (n.*2669G>C)
c.3304G>C (p.Ala1102Pro)
c.3925G>C (p.Ala1309Pro)
c.3592G>C (p.Ala1198Pro)
c.3673G>C (p.Ala1225Pro)
n.1248G>C
c.3691G>C (p.Ala1231Pro)
n.4064G>C
n.791G>C
c.2860G>C (p.Ala954Pro)
c.2635G>C (p.Ala879Pro)
c.3730G>C (p.Ala1244Pro)
c.1703G>C
c.*1026G>C (n.*1026G>C)
n.4669G>C
n.3270G>C
c.3781G>C (p.Ala1261Pro)
c.3829G>C (p.Ala1277Pro)
c.3889G>C (p.Ala1297Pro)
c.3439G>C (p.Ala1147Pro)
c.1741G>C (p.Ala581Pro)
c.1558G>C (p.Ala520Pro)
c.3790G>C (p.Ala1264Pro)
c.3742G>C (p.Ala1248Pro)
c.3511G>C (p.Ala1171Pro)
c.3412G>C (p.Ala1138Pro)
c.2593G>C (p.Ala865Pro)
n.4144G>C
13g.51937372C>TCA388021199ATP7Bc.*1575G>A (n.*1575G>A)
c.*2669G>A (n.*2669G>A)
c.3304G>A (p.Ala1102Thr)
c.3925G>A (p.Ala1309Thr)
c.3592G>A (p.Ala1198Thr)
c.3673G>A (p.Ala1225Thr)
n.1248G>A
c.3691G>A (p.Ala1231Thr)
n.4064G>A
n.791G>A
c.2860G>A (p.Ala954Thr)
c.2635G>A (p.Ala879Thr)
c.3730G>A (p.Ala1244Thr)
c.1703G>A
c.*1026G>A (n.*1026G>A)
n.4669G>A
n.3270G>A
c.3781G>A (p.Ala1261Thr)
c.3829G>A (p.Ala1277Thr)
c.3889G>A (p.Ala1297Thr)
c.3439G>A (p.Ala1147Thr)
c.1741G>A (p.Ala581Thr)
c.1558G>A (p.Ala520Thr)
c.3790G>A (p.Ala1264Thr)
c.3742G>A (p.Ala1248Thr)
c.3511G>A (p.Ala1171Thr)
c.3412G>A (p.Ala1138Thr)
c.2593G>A (p.Ala865Thr)
n.4144G>A
13g.51937373C>ACA484024254ATP7Bc.*1574G>T (n.*1574G>T)
c.*2668G>T (n.*2668G>T)
c.3303G>T (p.Val1101=)
c.3924G>T (p.Val1308=)
c.3591G>T (p.Val1197=)
c.3672G>T (p.Val1224=)
n.1247G>T
c.3690G>T (p.Val1230=)
n.4063G>T
n.790G>T
c.2859G>T (p.Val953=)
c.2634G>T (p.Val878=)
c.3729G>T (p.Val1243=)
c.1702G>T
c.*1025G>T (n.*1025G>T)
n.4668G>T
n.3269G>T
c.3780G>T (p.Val1260=)
c.3828G>T (p.Val1276=)
c.3888G>T (p.Val1296=)
c.3438G>T (p.Val1146=)
c.1740G>T (p.Val580=)
c.1557G>T (p.Val519=)
c.3789G>T (p.Val1263=)
c.3741G>T (p.Val1247=)
c.3510G>T (p.Val1170=)
c.3411G>T (p.Val1137=)
c.2592G>T (p.Val864=)
n.4143G>T
13g.51937373C>GCA484024253ATP7Bc.*1574G>C (n.*1574G>C)
c.*2668G>C (n.*2668G>C)
c.3303G>C (p.Val1101=)
c.3924G>C (p.Val1308=)
c.3591G>C (p.Val1197=)
c.3672G>C (p.Val1224=)
n.1247G>C
c.3690G>C (p.Val1230=)
n.4063G>C
n.790G>C
c.2859G>C (p.Val953=)
c.2634G>C (p.Val878=)
c.3729G>C (p.Val1243=)
c.1702G>C
c.*1025G>C (n.*1025G>C)
n.4668G>C
n.3269G>C
c.3780G>C (p.Val1260=)
c.3828G>C (p.Val1276=)
c.3888G>C (p.Val1296=)
c.3438G>C (p.Val1146=)
c.1740G>C (p.Val580=)
c.1557G>C (p.Val519=)
c.3789G>C (p.Val1263=)
c.3741G>C (p.Val1247=)
c.3510G>C (p.Val1170=)
c.3411G>C (p.Val1137=)
c.2592G>C (p.Val864=)
n.4143G>C
13g.51937373C>TCA484024252ATP7Bc.*1574G>A (n.*1574G>A)
c.*2668G>A (n.*2668G>A)
c.3303G>A (p.Val1101=)
c.3924G>A (p.Val1308=)
c.3591G>A (p.Val1197=)
c.3672G>A (p.Val1224=)
n.1247G>A
c.3690G>A (p.Val1230=)
n.4063G>A
n.790G>A
c.2859G>A (p.Val953=)
c.2634G>A (p.Val878=)
c.3729G>A (p.Val1243=)
c.1702G>A
c.*1025G>A (n.*1025G>A)
n.4668G>A
n.3269G>A
c.3780G>A (p.Val1260=)
c.3828G>A (p.Val1276=)
c.3888G>A (p.Val1296=)
c.3438G>A (p.Val1146=)
c.1740G>A (p.Val580=)
c.1557G>A (p.Val519=)
c.3789G>A (p.Val1263=)
c.3741G>A (p.Val1247=)
c.3510G>A (p.Val1170=)
c.3411G>A (p.Val1137=)
c.2592G>A (p.Val864=)
n.4143G>A
 gnomAD v4
13g.51937374A>CCA388021201ATP7Bc.*1573T>G (n.*1573T>G)
c.*2667T>G (n.*2667T>G)
c.3302T>G (p.Val1101Gly)
c.3923T>G (p.Val1308Gly)
c.3590T>G (p.Val1197Gly)
c.3671T>G (p.Val1224Gly)
n.1246T>G
c.3689T>G (p.Val1230Gly)
n.4062T>G
n.789T>G
c.2858T>G (p.Val953Gly)
c.2633T>G (p.Val878Gly)
c.3728T>G (p.Val1243Gly)
c.1701T>G
c.*1024T>G (n.*1024T>G)
n.4667T>G
n.3268T>G
c.3779T>G (p.Val1260Gly)
c.3827T>G (p.Val1276Gly)
c.3887T>G (p.Val1296Gly)
c.3437T>G (p.Val1146Gly)
c.1739T>G (p.Val580Gly)
c.1556T>G (p.Val519Gly)
c.3788T>G (p.Val1263Gly)
c.3740T>G (p.Val1247Gly)
c.3509T>G (p.Val1170Gly)
c.3410T>G (p.Val1137Gly)
c.2591T>G (p.Val864Gly)
n.4142T>G
13g.51937374A>GCA388021202ATP7Bc.*1573T>C (n.*1573T>C)
c.*2667T>C (n.*2667T>C)
c.3302T>C (p.Val1101Ala)
c.3923T>C (p.Val1308Ala)
c.3590T>C (p.Val1197Ala)
c.3671T>C (p.Val1224Ala)
n.1246T>C
c.3689T>C (p.Val1230Ala)
n.4062T>C
n.789T>C
c.2858T>C (p.Val953Ala)
c.2633T>C (p.Val878Ala)
c.3728T>C (p.Val1243Ala)
c.1701T>C
c.*1024T>C (n.*1024T>C)
n.4667T>C
n.3268T>C
c.3779T>C (p.Val1260Ala)
c.3827T>C (p.Val1276Ala)
c.3887T>C (p.Val1296Ala)
c.3437T>C (p.Val1146Ala)
c.1739T>C (p.Val580Ala)
c.1556T>C (p.Val519Ala)
c.3788T>C (p.Val1263Ala)
c.3740T>C (p.Val1247Ala)
c.3509T>C (p.Val1170Ala)
c.3410T>C (p.Val1137Ala)
c.2591T>C (p.Val864Ala)
n.4142T>C
 gnomAD v4
13g.51937374A>TCA388021204ATP7Bc.*1573T>A (n.*1573T>A)
c.*2667T>A (n.*2667T>A)
c.3302T>A (p.Val1101Glu)
c.3923T>A (p.Val1308Glu)
c.3590T>A (p.Val1197Glu)
c.3671T>A (p.Val1224Glu)
n.1246T>A
c.3689T>A (p.Val1230Glu)
n.4062T>A
n.789T>A
c.2858T>A (p.Val953Glu)
c.2633T>A (p.Val878Glu)
c.3728T>A (p.Val1243Glu)
c.1701T>A
c.*1024T>A (n.*1024T>A)
n.4667T>A
n.3268T>A
c.3779T>A (p.Val1260Glu)
c.3827T>A (p.Val1276Glu)
c.3887T>A (p.Val1296Glu)
c.3437T>A (p.Val1146Glu)
c.1739T>A (p.Val580Glu)
c.1556T>A (p.Val519Glu)
c.3788T>A (p.Val1263Glu)
c.3740T>A (p.Val1247Glu)
c.3509T>A (p.Val1170Glu)
c.3410T>A (p.Val1137Glu)
c.2591T>A (p.Val864Glu)
n.4142T>A
13g.51937375C>ACA388021207ATP7Bc.*1572G>T (n.*1572G>T)
c.*2666G>T (n.*2666G>T)
c.3301G>T (p.Val1101Leu)
c.3922G>T (p.Val1308Leu)
c.3589G>T (p.Val1197Leu)
c.3670G>T (p.Val1224Leu)
n.1245G>T
c.3688G>T (p.Val1230Leu)
n.4061G>T
n.788G>T
c.2857G>T (p.Val953Leu)
c.2632G>T (p.Val878Leu)
c.3727G>T (p.Val1243Leu)
c.1700G>T
c.*1023G>T (n.*1023G>T)
n.4666G>T
n.3267G>T
c.3778G>T (p.Val1260Leu)
c.3826G>T (p.Val1276Leu)
c.3886G>T (p.Val1296Leu)
c.3436G>T (p.Val1146Leu)
c.1738G>T (p.Val580Leu)
c.1555G>T (p.Val519Leu)
c.3787G>T (p.Val1263Leu)
c.3739G>T (p.Val1247Leu)
c.3508G>T (p.Val1170Leu)
c.3409G>T (p.Val1137Leu)
c.2590G>T (p.Val864Leu)
n.4141G>T
13g.51937375C>GCA388021209ATP7Bc.*1572G>C (n.*1572G>C)
c.*2666G>C (n.*2666G>C)
c.3301G>C (p.Val1101Leu)
c.3922G>C (p.Val1308Leu)
c.3589G>C (p.Val1197Leu)
c.3670G>C (p.Val1224Leu)
n.1245G>C
c.3688G>C (p.Val1230Leu)
n.4061G>C
n.788G>C
c.2857G>C (p.Val953Leu)
c.2632G>C (p.Val878Leu)
c.3727G>C (p.Val1243Leu)
c.1700G>C
c.*1023G>C (n.*1023G>C)
n.4666G>C
n.3267G>C
c.3778G>C (p.Val1260Leu)
c.3826G>C (p.Val1276Leu)
c.3886G>C (p.Val1296Leu)
c.3436G>C (p.Val1146Leu)
c.1738G>C (p.Val580Leu)
c.1555G>C (p.Val519Leu)
c.3787G>C (p.Val1263Leu)
c.3739G>C (p.Val1247Leu)
c.3508G>C (p.Val1170Leu)
c.3409G>C (p.Val1137Leu)
c.2590G>C (p.Val864Leu)
n.4141G>C
13g.51937375C>TCA388021206ATP7Bc.*1572G>A (n.*1572G>A)
c.*2666G>A (n.*2666G>A)
c.3301G>A (p.Val1101Met)
c.3922G>A (p.Val1308Met)
c.3589G>A (p.Val1197Met)
c.3670G>A (p.Val1224Met)
n.1245G>A
c.3688G>A (p.Val1230Met)
n.4061G>A
n.788G>A
c.2857G>A (p.Val953Met)
c.2632G>A (p.Val878Met)
c.3727G>A (p.Val1243Met)
c.1700G>A
c.*1023G>A (n.*1023G>A)
n.4666G>A
n.3267G>A
c.3778G>A (p.Val1260Met)
c.3826G>A (p.Val1276Met)
c.3886G>A (p.Val1296Met)
c.3436G>A (p.Val1146Met)
c.1738G>A (p.Val580Met)
c.1555G>A (p.Val519Met)
c.3787G>A (p.Val1263Met)
c.3739G>A (p.Val1247Met)
c.3508G>A (p.Val1170Met)
c.3409G>A (p.Val1137Met)
c.2590G>A (p.Val864Met)
n.4141G>A
13g.51937376delCA2695218739ATP7Bc.*1572del (n.*1572del)
c.*2666del (n.*2666del)
c.3301del (p.Val1101TrpfsTer22)
c.3922del (p.Val1308TrpfsTer22)
c.3589del (p.Val1197TrpfsTer22)
c.3670del (p.Val1224TrpfsTer22)
n.1245del
c.3688del (p.Val1230TrpfsTer22)
n.4061del
n.788del
c.2857del (p.Val953TrpfsTer22)
c.2632del (p.Val878TrpfsTer22)
c.3727del (p.Val1243TrpfsTer22)
c.1700del
c.*1023del (n.*1023del)
n.4666del
n.3267del
c.3778del (p.Val1260TrpfsTer22)
c.3826del (p.Val1276TrpfsTer22)
c.3886del (p.Val1296TrpfsTer22)
c.3436del (p.Val1146TrpfsTer22)
c.1738del (p.Val580TrpfsTer22)
c.1555del (p.Val519TrpfsTer22)
c.3787del (p.Val1263TrpfsTer22)
c.3739del (p.Val1247TrpfsTer22)
c.3508del (p.Val1170TrpfsTer22)
c.3409del (p.Val1137TrpfsTer22)
c.2590del (p.Val864TrpfsTer22)
n.4141del
13g.51937376C>ACA484024257ATP7Bc.*1571G>T (n.*1571G>T)
c.*2665G>T (n.*2665G>T)
c.3300G>T (p.Val1100=)
c.3921G>T (p.Val1307=)
c.3588G>T (p.Val1196=)
c.3669G>T (p.Val1223=)
n.1244G>T
c.3687G>T (p.Val1229=)
n.4060G>T
n.787G>T
c.2856G>T (p.Val952=)
c.2631G>T (p.Val877=)
c.3726G>T (p.Val1242=)
c.1699G>T
c.*1022G>T (n.*1022G>T)
n.4665G>T
n.3266G>T
c.3777G>T (p.Val1259=)
c.3825G>T (p.Val1275=)
c.3885G>T (p.Val1295=)
c.3435G>T (p.Val1145=)
c.1737G>T (p.Val579=)
c.1554G>T (p.Val518=)
c.3786G>T (p.Val1262=)
c.3738G>T (p.Val1246=)
c.3507G>T (p.Val1169=)
c.3408G>T (p.Val1136=)
c.2589G>T (p.Val863=)
n.4140G>T
13g.51937376C=CA2091553515ATP7Bc.*1571G= (n.*1571G=)
c.*2665G= (n.*2665G=)
c.3300G= (p.Val1100=)
c.3921G= (p.Val1307=)
c.3588G= (p.Val1196=)
c.3669G= (p.Val1223=)
n.1244G=
c.3687G= (p.Val1229=)
n.4060G=
n.787G=
c.2856G= (p.Val952=)
c.2631G= (p.Val877=)
c.3726G= (p.Val1242=)
c.1699G=
c.*1022G= (n.*1022G=)
n.4665G=
n.3266G=
c.3777G= (p.Val1259=)
c.3825G= (p.Val1275=)
c.3885G= (p.Val1295=)
c.3435G= (p.Val1145=)
c.1737G= (p.Val579=)
c.1554G= (p.Val518=)
c.3786G= (p.Val1262=)
c.3738G= (p.Val1246=)
c.3507G= (p.Val1169=)
c.3408G= (p.Val1136=)
c.2589G= (p.Val863=)
n.4140G=
13g.51937376C>GCA484024255ATP7Bc.*1571G>C (n.*1571G>C)
c.*2665G>C (n.*2665G>C)
c.3300G>C (p.Val1100=)
c.3921G>C (p.Val1307=)
c.3588G>C (p.Val1196=)
c.3669G>C (p.Val1223=)
n.1244G>C
c.3687G>C (p.Val1229=)
n.4060G>C
n.787G>C
c.2856G>C (p.Val952=)
c.2631G>C (p.Val877=)
c.3726G>C (p.Val1242=)
c.1699G>C
c.*1022G>C (n.*1022G>C)
n.4665G>C
n.3266G>C
c.3777G>C (p.Val1259=)
c.3825G>C (p.Val1275=)
c.3885G>C (p.Val1295=)
c.3435G>C (p.Val1145=)
c.1737G>C (p.Val579=)
c.1554G>C (p.Val518=)
c.3786G>C (p.Val1262=)
c.3738G>C (p.Val1246=)
c.3507G>C (p.Val1169=)
c.3408G>C (p.Val1136=)
c.2589G>C (p.Val863=)
n.4140G>C
13g.51937376C>TCA484024256ATP7Bc.*1571G>A (n.*1571G>A)
c.*2665G>A (n.*2665G>A)
c.3300G>A (p.Val1100=)
c.3921G>A (p.Val1307=)
c.3588G>A (p.Val1196=)
c.3669G>A (p.Val1223=)
n.1244G>A
c.3687G>A (p.Val1229=)
n.4060G>A
n.787G>A
c.2856G>A (p.Val952=)
c.2631G>A (p.Val877=)
c.3726G>A (p.Val1242=)
c.1699G>A
c.*1022G>A (n.*1022G>A)
n.4665G>A
n.3266G>A
c.3777G>A (p.Val1259=)
c.3825G>A (p.Val1275=)
c.3885G>A (p.Val1295=)
c.3435G>A (p.Val1145=)
c.1737G>A (p.Val579=)
c.1554G>A (p.Val518=)
c.3786G>A (p.Val1262=)
c.3738G>A (p.Val1246=)
c.3507G>A (p.Val1169=)
c.3408G>A (p.Val1136=)
c.2589G>A (p.Val863=)
n.4140G>A
 dbSNP
13g.51937377A>CCA388021210ATP7Bc.*1570T>G (n.*1570T>G)
c.*2664T>G (n.*2664T>G)
c.3299T>G (p.Val1100Gly)
c.3920T>G (p.Val1307Gly)
c.3587T>G (p.Val1196Gly)
c.3668T>G (p.Val1223Gly)
n.1243T>G
c.3686T>G (p.Val1229Gly)
n.4059T>G
n.786T>G
c.2855T>G (p.Val952Gly)
c.2630T>G (p.Val877Gly)
c.3725T>G (p.Val1242Gly)
c.1698T>G
c.*1021T>G (n.*1021T>G)
n.4664T>G
n.3265T>G
c.3776T>G (p.Val1259Gly)
c.3824T>G (p.Val1275Gly)
c.3884T>G (p.Val1295Gly)
c.3434T>G (p.Val1145Gly)
c.1736T>G (p.Val579Gly)
c.1553T>G (p.Val518Gly)
c.3785T>G (p.Val1262Gly)
c.3737T>G (p.Val1246Gly)
c.3506T>G (p.Val1169Gly)
c.3407T>G (p.Val1136Gly)
c.2588T>G (p.Val863Gly)
n.4139T>G
13g.51937377A>GCA388021212ATP7Bc.*1570T>C (n.*1570T>C)
c.*2664T>C (n.*2664T>C)
c.3299T>C (p.Val1100Ala)
c.3920T>C (p.Val1307Ala)
c.3587T>C (p.Val1196Ala)
c.3668T>C (p.Val1223Ala)
n.1243T>C
c.3686T>C (p.Val1229Ala)
n.4059T>C
n.786T>C
c.2855T>C (p.Val952Ala)
c.2630T>C (p.Val877Ala)
c.3725T>C (p.Val1242Ala)
c.1698T>C
c.*1021T>C (n.*1021T>C)
n.4664T>C
n.3265T>C
c.3776T>C (p.Val1259Ala)
c.3824T>C (p.Val1275Ala)
c.3884T>C (p.Val1295Ala)
c.3434T>C (p.Val1145Ala)
c.1736T>C (p.Val579Ala)
c.1553T>C (p.Val518Ala)
c.3785T>C (p.Val1262Ala)
c.3737T>C (p.Val1246Ala)
c.3506T>C (p.Val1169Ala)
c.3407T>C (p.Val1136Ala)
c.2588T>C (p.Val863Ala)
n.4139T>C
13g.51937377A>TCA388021214ATP7Bc.*1570T>A (n.*1570T>A)
c.*2664T>A (n.*2664T>A)
c.3299T>A (p.Val1100Glu)
c.3920T>A (p.Val1307Glu)
c.3587T>A (p.Val1196Glu)
c.3668T>A (p.Val1223Glu)
n.1243T>A
c.3686T>A (p.Val1229Glu)
n.4059T>A
n.786T>A
c.2855T>A (p.Val952Glu)
c.2630T>A (p.Val877Glu)
c.3725T>A (p.Val1242Glu)
c.1698T>A
c.*1021T>A (n.*1021T>A)
n.4664T>A
n.3265T>A
c.3776T>A (p.Val1259Glu)
c.3824T>A (p.Val1275Glu)
c.3884T>A (p.Val1295Glu)
c.3434T>A (p.Val1145Glu)
c.1736T>A (p.Val579Glu)
c.1553T>A (p.Val518Glu)
c.3785T>A (p.Val1262Glu)
c.3737T>A (p.Val1246Glu)
c.3506T>A (p.Val1169Glu)
c.3407T>A (p.Val1136Glu)
c.2588T>A (p.Val863Glu)
n.4139T>A
13g.51937378C>ACA388021215ATP7Bc.*1569G>T (n.*1569G>T)
c.*2663G>T (n.*2663G>T)
c.3298G>T (p.Val1100Leu)
c.3919G>T (p.Val1307Leu)
c.3586G>T (p.Val1196Leu)
c.3667G>T (p.Val1223Leu)
n.1242G>T
c.3685G>T (p.Val1229Leu)
n.4058G>T
n.785G>T
c.2854G>T (p.Val952Leu)
c.2629G>T (p.Val877Leu)
c.3724G>T (p.Val1242Leu)
c.1697G>T
c.*1020G>T (n.*1020G>T)
n.4663G>T
n.3264G>T
c.3775G>T (p.Val1259Leu)
c.3823G>T (p.Val1275Leu)
c.3883G>T (p.Val1295Leu)
c.3433G>T (p.Val1145Leu)
c.1735G>T (p.Val579Leu)
c.1552G>T (p.Val518Leu)
c.3784G>T (p.Val1262Leu)
c.3736G>T (p.Val1246Leu)
c.3505G>T (p.Val1169Leu)
c.3406G>T (p.Val1136Leu)
c.2587G>T (p.Val863Leu)
n.4138G>T
 gnomAD v4 COSMIC
13g.51937378C=CA2091553517ATP7Bc.*1569G= (n.*1569G=)
c.*2663G= (n.*2663G=)
c.3298G= (p.Val1100=)
c.3919G= (p.Val1307=)
c.3586G= (p.Val1196=)
c.3667G= (p.Val1223=)
n.1242G=
c.3685G= (p.Val1229=)
n.4058G=
n.785G=
c.2854G= (p.Val952=)
c.2629G= (p.Val877=)
c.3724G= (p.Val1242=)
c.1697G=
c.*1020G= (n.*1020G=)
n.4663G=
n.3264G=
c.3775G= (p.Val1259=)
c.3823G= (p.Val1275=)
c.3883G= (p.Val1295=)
c.3433G= (p.Val1145=)
c.1735G= (p.Val579=)
c.1552G= (p.Val518=)
c.3784G= (p.Val1262=)
c.3736G= (p.Val1246=)
c.3505G= (p.Val1169=)
c.3406G= (p.Val1136=)
c.2587G= (p.Val863=)
n.4138G=
13g.51937378C>GCA388021217ATP7Bc.*1569G>C (n.*1569G>C)
c.*2663G>C (n.*2663G>C)
c.3298G>C (p.Val1100Leu)
c.3919G>C (p.Val1307Leu)
c.3586G>C (p.Val1196Leu)
c.3667G>C (p.Val1223Leu)
n.1242G>C
c.3685G>C (p.Val1229Leu)
n.4058G>C
n.785G>C
c.2854G>C (p.Val952Leu)
c.2629G>C (p.Val877Leu)
c.3724G>C (p.Val1242Leu)
c.1697G>C
c.*1020G>C (n.*1020G>C)
n.4663G>C
n.3264G>C
c.3775G>C (p.Val1259Leu)
c.3823G>C (p.Val1275Leu)
c.3883G>C (p.Val1295Leu)
c.3433G>C (p.Val1145Leu)
c.1735G>C (p.Val579Leu)
c.1552G>C (p.Val518Leu)
c.3784G>C (p.Val1262Leu)
c.3736G>C (p.Val1246Leu)
c.3505G>C (p.Val1169Leu)
c.3406G>C (p.Val1136Leu)
c.2587G>C (p.Val863Leu)
n.4138G>C
13g.51937378C>TCA388021219ATP7Bc.*1569G>A (n.*1569G>A)
c.*2663G>A (n.*2663G>A)
c.3298G>A (p.Val1100Met)
c.3919G>A (p.Val1307Met)
c.3586G>A (p.Val1196Met)
c.3667G>A (p.Val1223Met)
n.1242G>A
c.3685G>A (p.Val1229Met)
n.4058G>A
n.785G>A
c.2854G>A (p.Val952Met)
c.2629G>A (p.Val877Met)
c.3724G>A (p.Val1242Met)
c.1697G>A
c.*1020G>A (n.*1020G>A)
n.4663G>A
n.3264G>A
c.3775G>A (p.Val1259Met)
c.3823G>A (p.Val1275Met)
c.3883G>A (p.Val1295Met)
c.3433G>A (p.Val1145Met)
c.1735G>A (p.Val579Met)
c.1552G>A (p.Val518Met)
c.3784G>A (p.Val1262Met)
c.3736G>A (p.Val1246Met)
c.3505G>A (p.Val1169Met)
c.3406G>A (p.Val1136Met)
c.2587G>A (p.Val863Met)
n.4138G>A
 dbSNP
13g.51937379A=CA2091553519ATP7Bc.*1568T= (n.*1568T=)
c.*2662T= (n.*2662T=)
c.3297T= (p.Asp1099=)
c.3918T= (p.Asp1306=)
c.3585T= (p.Asp1195=)
c.3666T= (p.Asp1222=)
n.1241T=
c.3684T= (p.Asp1228=)
n.4057T=
n.784T=
c.2853T= (p.Asp951=)
c.2628T= (p.Asp876=)
c.3723T= (p.Asp1241=)
c.1696T=
c.*1019T= (n.*1019T=)
n.4662T=
n.3263T=
c.3774T= (p.Asp1258=)
c.3822T= (p.Asp1274=)
c.3882T= (p.Asp1294=)
c.3432T= (p.Asp1144=)
c.1734T= (p.Asp578=)
c.1551T= (p.Asp517=)
c.3783T= (p.Asp1261=)
c.3735T= (p.Asp1245=)
c.3504T= (p.Asp1168=)
c.3405T= (p.Asp1135=)
c.2586T= (p.Asp862=)
n.4137T=
13g.51937379A>CCA388021221ATP7Bc.*1568T>G (n.*1568T>G)
c.*2662T>G (n.*2662T>G)
c.3297T>G (p.Asp1099Glu)
c.3918T>G (p.Asp1306Glu)
c.3585T>G (p.Asp1195Glu)
c.3666T>G (p.Asp1222Glu)
n.1241T>G
c.3684T>G (p.Asp1228Glu)
n.4057T>G
n.784T>G
c.2853T>G (p.Asp951Glu)
c.2628T>G (p.Asp876Glu)
c.3723T>G (p.Asp1241Glu)
c.1696T>G
c.*1019T>G (n.*1019T>G)
n.4662T>G
n.3263T>G
c.3774T>G (p.Asp1258Glu)
c.3822T>G (p.Asp1274Glu)
c.3882T>G (p.Asp1294Glu)
c.3432T>G (p.Asp1144Glu)
c.1734T>G (p.Asp578Glu)
c.1551T>G (p.Asp517Glu)
c.3783T>G (p.Asp1261Glu)
c.3735T>G (p.Asp1245Glu)
c.3504T>G (p.Asp1168Glu)
c.3405T>G (p.Asp1135Glu)
c.2586T>G (p.Asp862Glu)
n.4137T>G
13g.51937379A>GCA484024258ATP7Bc.*1568T>C (n.*1568T>C)
c.*2662T>C (n.*2662T>C)
c.3297T>C (p.Asp1099=)
c.3918T>C (p.Asp1306=)
c.3585T>C (p.Asp1195=)
c.3666T>C (p.Asp1222=)
n.1241T>C
c.3684T>C (p.Asp1228=)
n.4057T>C
n.784T>C
c.2853T>C (p.Asp951=)
c.2628T>C (p.Asp876=)
c.3723T>C (p.Asp1241=)
c.1696T>C
c.*1019T>C (n.*1019T>C)
n.4662T>C
n.3263T>C
c.3774T>C (p.Asp1258=)
c.3822T>C (p.Asp1274=)
c.3882T>C (p.Asp1294=)
c.3432T>C (p.Asp1144=)
c.1734T>C (p.Asp578=)
c.1551T>C (p.Asp517=)
c.3783T>C (p.Asp1261=)
c.3735T>C (p.Asp1245=)
c.3504T>C (p.Asp1168=)
c.3405T>C (p.Asp1135=)
c.2586T>C (p.Asp862=)
n.4137T>C
 dbSNP gnomAD v2 gnomAD v4
13g.51937379A>TCA388021220ATP7Bc.*1568T>A (n.*1568T>A)
c.*2662T>A (n.*2662T>A)
c.3297T>A (p.Asp1099Glu)
c.3918T>A (p.Asp1306Glu)
c.3585T>A (p.Asp1195Glu)
c.3666T>A (p.Asp1222Glu)
n.1241T>A
c.3684T>A (p.Asp1228Glu)
n.4057T>A
n.784T>A
c.2853T>A (p.Asp951Glu)
c.2628T>A (p.Asp876Glu)
c.3723T>A (p.Asp1241Glu)
c.1696T>A
c.*1019T>A (n.*1019T>A)
n.4662T>A
n.3263T>A
c.3774T>A (p.Asp1258Glu)
c.3822T>A (p.Asp1274Glu)
c.3882T>A (p.Asp1294Glu)
c.3432T>A (p.Asp1144Glu)
c.1734T>A (p.Asp578Glu)
c.1551T>A (p.Asp517Glu)
c.3783T>A (p.Asp1261Glu)
c.3735T>A (p.Asp1245Glu)
c.3504T>A (p.Asp1168Glu)
c.3405T>A (p.Asp1135Glu)
c.2586T>A (p.Asp862Glu)
n.4137T>A
13g.51937379_51937383dupCA2580087702ATP7Bc.*1564_*1568dup (n.*1564_*1568dup)
c.*2658_*2662dup (n.*2658_*2662dup)
c.3293_3297dup (p.Val1100TrpfsTer25)
c.3914_3918dup (p.Val1307TrpfsTer25)
c.3581_3585dup (p.Val1196TrpfsTer25)
c.3662_3666dup (p.Val1223TrpfsTer25)
n.1237_1241dup
c.3680_3684dup (p.Val1229TrpfsTer25)
n.4053_4057dup
n.780_784dup
c.2849_2853dup (p.Val952TrpfsTer25)
c.2624_2628dup (p.Val877TrpfsTer25)
c.3719_3723dup (p.Val1242TrpfsTer25)
c.1692_1696dup
c.*1015_*1019dup (n.*1015_*1019dup)
n.4658_4662dup
n.3259_3263dup
c.3770_3774dup (p.Val1259TrpfsTer25)
c.3818_3822dup (p.Val1275TrpfsTer25)
c.3878_3882dup (p.Val1295TrpfsTer25)
c.3428_3432dup (p.Val1145TrpfsTer25)
c.1730_1734dup (p.Val579TrpfsTer25)
c.1547_1551dup (p.Val518TrpfsTer25)
c.3779_3783dup (p.Val1262TrpfsTer25)
c.3731_3735dup (p.Val1246TrpfsTer25)
c.3500_3504dup (p.Val1169TrpfsTer25)
c.3401_3405dup (p.Val1136TrpfsTer25)
c.2582_2586dup (p.Val863TrpfsTer25)
n.4133_4137dup
 ClinVar
13g.51937380T>ACA388021222ATP7Bc.*1567A>T (n.*1567A>T)
c.*2661A>T (n.*2661A>T)
c.3296A>T (p.Asp1099Val)
c.3917A>T (p.Asp1306Val)
c.3584A>T (p.Asp1195Val)
c.3665A>T (p.Asp1222Val)
n.1240A>T
c.3683A>T (p.Asp1228Val)
n.4056A>T
n.783A>T
c.2852A>T (p.Asp951Val)
c.2627A>T (p.Asp876Val)
c.3722A>T (p.Asp1241Val)
c.1695A>T
c.*1018A>T (n.*1018A>T)
n.4661A>T
n.3262A>T
c.3773A>T (p.Asp1258Val)
c.3821A>T (p.Asp1274Val)
c.3881A>T (p.Asp1294Val)
c.3431A>T (p.Asp1144Val)
c.1733A>T (p.Asp578Val)
c.1550A>T (p.Asp517Val)
c.3782A>T (p.Asp1261Val)
c.3734A>T (p.Asp1245Val)
c.3503A>T (p.Asp1168Val)
c.3404A>T (p.Asp1135Val)
c.2585A>T (p.Asp862Val)
n.4136A>T
13g.51937380T>CCA388021223ATP7Bc.*1567A>G (n.*1567A>G)
c.*2661A>G (n.*2661A>G)
c.3296A>G (p.Asp1099Gly)
c.3917A>G (p.Asp1306Gly)
c.3584A>G (p.Asp1195Gly)
c.3665A>G (p.Asp1222Gly)
n.1240A>G
c.3683A>G (p.Asp1228Gly)
n.4056A>G
n.783A>G
c.2852A>G (p.Asp951Gly)
c.2627A>G (p.Asp876Gly)
c.3722A>G (p.Asp1241Gly)
c.1695A>G
c.*1018A>G (n.*1018A>G)
n.4661A>G
n.3262A>G
c.3773A>G (p.Asp1258Gly)
c.3821A>G (p.Asp1274Gly)
c.3881A>G (p.Asp1294Gly)
c.3431A>G (p.Asp1144Gly)
c.1733A>G (p.Asp578Gly)
c.1550A>G (p.Asp517Gly)
c.3782A>G (p.Asp1261Gly)
c.3734A>G (p.Asp1245Gly)
c.3503A>G (p.Asp1168Gly)
c.3404A>G (p.Asp1135Gly)
c.2585A>G (p.Asp862Gly)
n.4136A>G
13g.51937380T>GCA388021225ATP7Bc.*1567A>C (n.*1567A>C)
c.*2661A>C (n.*2661A>C)
c.3296A>C (p.Asp1099Ala)
c.3917A>C (p.Asp1306Ala)
c.3584A>C (p.Asp1195Ala)
c.3665A>C (p.Asp1222Ala)
n.1240A>C
c.3683A>C (p.Asp1228Ala)
n.4056A>C
n.783A>C
c.2852A>C (p.Asp951Ala)
c.2627A>C (p.Asp876Ala)
c.3722A>C (p.Asp1241Ala)
c.1695A>C
c.*1018A>C (n.*1018A>C)
n.4661A>C
n.3262A>C
c.3773A>C (p.Asp1258Ala)
c.3821A>C (p.Asp1274Ala)
c.3881A>C (p.Asp1294Ala)
c.3431A>C (p.Asp1144Ala)
c.1733A>C (p.Asp578Ala)
c.1550A>C (p.Asp517Ala)
c.3782A>C (p.Asp1261Ala)
c.3734A>C (p.Asp1245Ala)
c.3503A>C (p.Asp1168Ala)
c.3404A>C (p.Asp1135Ala)
c.2585A>C (p.Asp862Ala)
n.4136A>C
13g.51937381C>ACA388021226ATP7Bc.*1566G>T (n.*1566G>T)
c.*2660G>T (n.*2660G>T)
c.3295G>T (p.Asp1099Tyr)
c.3916G>T (p.Asp1306Tyr)
c.3583G>T (p.Asp1195Tyr)
c.3664G>T (p.Asp1222Tyr)
n.1239G>T
c.3682G>T (p.Asp1228Tyr)
n.4055G>T
n.782G>T
c.2851G>T (p.Asp951Tyr)
c.2626G>T (p.Asp876Tyr)
c.3721G>T (p.Asp1241Tyr)
c.1694G>T
c.*1017G>T (n.*1017G>T)
n.4660G>T
n.3261G>T
c.3772G>T (p.Asp1258Tyr)
c.3820G>T (p.Asp1274Tyr)
c.3880G>T (p.Asp1294Tyr)
c.3430G>T (p.Asp1144Tyr)
c.1732G>T (p.Asp578Tyr)
c.1549G>T (p.Asp517Tyr)
c.3781G>T (p.Asp1261Tyr)
c.3733G>T (p.Asp1245Tyr)
c.3502G>T (p.Asp1168Tyr)
c.3403G>T (p.Asp1135Tyr)
c.2584G>T (p.Asp862Tyr)
n.4135G>T
 dbSNP gnomAD v2 gnomAD v4
13g.51937381C=CA2091553523ATP7Bc.*1566G= (n.*1566G=)
c.*2660G= (n.*2660G=)
c.3295G= (p.Asp1099=)
c.3916G= (p.Asp1306=)
c.3583G= (p.Asp1195=)
c.3664G= (p.Asp1222=)
n.1239G=
c.3682G= (p.Asp1228=)
n.4055G=
n.782G=
c.2851G= (p.Asp951=)
c.2626G= (p.Asp876=)
c.3721G= (p.Asp1241=)
c.1694G=
c.*1017G= (n.*1017G=)
n.4660G=
n.3261G=
c.3772G= (p.Asp1258=)
c.3820G= (p.Asp1274=)
c.3880G= (p.Asp1294=)
c.3430G= (p.Asp1144=)
c.1732G= (p.Asp578=)
c.1549G= (p.Asp517=)
c.3781G= (p.Asp1261=)
c.3733G= (p.Asp1245=)
c.3502G= (p.Asp1168=)
c.3403G= (p.Asp1135=)
c.2584G= (p.Asp862=)
n.4135G=
13g.51937381C>GCA388021227ATP7Bc.*1566G>C (n.*1566G>C)
c.*2660G>C (n.*2660G>C)
c.3295G>C (p.Asp1099His)
c.3916G>C (p.Asp1306His)
c.3583G>C (p.Asp1195His)
c.3664G>C (p.Asp1222His)
n.1239G>C
c.3682G>C (p.Asp1228His)
n.4055G>C
n.782G>C
c.2851G>C (p.Asp951His)
c.2626G>C (p.Asp876His)
c.3721G>C (p.Asp1241His)
c.1694G>C
c.*1017G>C (n.*1017G>C)
n.4660G>C
n.3261G>C
c.3772G>C (p.Asp1258His)
c.3820G>C (p.Asp1274His)
c.3880G>C (p.Asp1294His)
c.3430G>C (p.Asp1144His)
c.1732G>C (p.Asp578His)
c.1549G>C (p.Asp517His)
c.3781G>C (p.Asp1261His)
c.3733G>C (p.Asp1245His)
c.3502G>C (p.Asp1168His)
c.3403G>C (p.Asp1135His)
c.2584G>C (p.Asp862His)
n.4135G>C
13g.51937381C>TCA388021228ATP7Bc.*1566G>A (n.*1566G>A)
c.*2660G>A (n.*2660G>A)
c.3295G>A (p.Asp1099Asn)
c.3916G>A (p.Asp1306Asn)
c.3583G>A (p.Asp1195Asn)
c.3664G>A (p.Asp1222Asn)
n.1239G>A
c.3682G>A (p.Asp1228Asn)
n.4055G>A
n.782G>A
c.2851G>A (p.Asp951Asn)
c.2626G>A (p.Asp876Asn)
c.3721G>A (p.Asp1241Asn)
c.1694G>A
c.*1017G>A (n.*1017G>A)
n.4660G>A
n.3261G>A
c.3772G>A (p.Asp1258Asn)
c.3820G>A (p.Asp1274Asn)
c.3880G>A (p.Asp1294Asn)
c.3430G>A (p.Asp1144Asn)
c.1732G>A (p.Asp578Asn)
c.1549G>A (p.Asp517Asn)
c.3781G>A (p.Asp1261Asn)
c.3733G>A (p.Asp1245Asn)
c.3502G>A (p.Asp1168Asn)
c.3403G>A (p.Asp1135Asn)
c.2584G>A (p.Asp862Asn)
n.4135G>A
13g.51937382C>ACA484024259ATP7Bc.*1565G>T (n.*1565G>T)
c.*2659G>T (n.*2659G>T)
c.3294G>T (p.Leu1098=)
c.3915G>T (p.Leu1305=)
c.3582G>T (p.Leu1194=)
c.3663G>T (p.Leu1221=)
n.1238G>T
c.3681G>T (p.Leu1227=)
n.4054G>T
n.781G>T
c.2850G>T (p.Leu950=)
c.2625G>T (p.Leu875=)
c.3720G>T (p.Leu1240=)
c.1693G>T
c.*1016G>T (n.*1016G>T)
n.4659G>T
n.3260G>T
c.3771G>T (p.Leu1257=)
c.3819G>T (p.Leu1273=)
c.3879G>T (p.Leu1293=)
c.3429G>T (p.Leu1143=)
c.1731G>T (p.Leu577=)
c.1548G>T (p.Leu516=)
c.3780G>T (p.Leu1260=)
c.3732G>T (p.Leu1244=)
c.3501G>T (p.Leu1167=)
c.3402G>T (p.Leu1134=)
c.2583G>T (p.Leu861=)
n.4134G>T
 dbSNP gnomAD v2 gnomAD v4
13g.51937382C=CA2091553524ATP7Bc.*1565G= (n.*1565G=)
c.*2659G= (n.*2659G=)
c.3294G= (p.Leu1098=)
c.3915G= (p.Leu1305=)
c.3582G= (p.Leu1194=)
c.3663G= (p.Leu1221=)
n.1238G=
c.3681G= (p.Leu1227=)
n.4054G=
n.781G=
c.2850G= (p.Leu950=)
c.2625G= (p.Leu875=)
c.3720G= (p.Leu1240=)
c.1693G=
c.*1016G= (n.*1016G=)
n.4659G=
n.3260G=
c.3771G= (p.Leu1257=)
c.3819G= (p.Leu1273=)
c.3879G= (p.Leu1293=)
c.3429G= (p.Leu1143=)
c.1731G= (p.Leu577=)
c.1548G= (p.Leu516=)
c.3780G= (p.Leu1260=)
c.3732G= (p.Leu1244=)
c.3501G= (p.Leu1167=)
c.3402G= (p.Leu1134=)
c.2583G= (p.Leu861=)
n.4134G=
13g.51937382C>GCA484024260ATP7Bc.*1565G>C (n.*1565G>C)
c.*2659G>C (n.*2659G>C)
c.3294G>C (p.Leu1098=)
c.3915G>C (p.Leu1305=)
c.3582G>C (p.Leu1194=)
c.3663G>C (p.Leu1221=)
n.1238G>C
c.3681G>C (p.Leu1227=)
n.4054G>C
n.781G>C
c.2850G>C (p.Leu950=)
c.2625G>C (p.Leu875=)
c.3720G>C (p.Leu1240=)
c.1693G>C
c.*1016G>C (n.*1016G>C)
n.4659G>C
n.3260G>C
c.3771G>C (p.Leu1257=)
c.3819G>C (p.Leu1273=)
c.3879G>C (p.Leu1293=)
c.3429G>C (p.Leu1143=)
c.1731G>C (p.Leu577=)
c.1548G>C (p.Leu516=)
c.3780G>C (p.Leu1260=)
c.3732G>C (p.Leu1244=)
c.3501G>C (p.Leu1167=)
c.3402G>C (p.Leu1134=)
c.2583G>C (p.Leu861=)
n.4134G>C
 ClinVar gnomAD v4
13g.51937382C>TCA484024261ATP7Bc.*1565G>A (n.*1565G>A)
c.*2659G>A (n.*2659G>A)
c.3294G>A (p.Leu1098=)
c.3915G>A (p.Leu1305=)
c.3582G>A (p.Leu1194=)
c.3663G>A (p.Leu1221=)
n.1238G>A
c.3681G>A (p.Leu1227=)
n.4054G>A
n.781G>A
c.2850G>A (p.Leu950=)
c.2625G>A (p.Leu875=)
c.3720G>A (p.Leu1240=)
c.1693G>A
c.*1016G>A (n.*1016G>A)
n.4659G>A
n.3260G>A
c.3771G>A (p.Leu1257=)
c.3819G>A (p.Leu1273=)
c.3879G>A (p.Leu1293=)
c.3429G>A (p.Leu1143=)
c.1731G>A (p.Leu577=)
c.1548G>A (p.Leu516=)
c.3780G>A (p.Leu1260=)
c.3732G>A (p.Leu1244=)
c.3501G>A (p.Leu1167=)
c.3402G>A (p.Leu1134=)
c.2583G>A (p.Leu861=)
n.4134G>A
 gnomAD v4
13g.51937383A=CA2091553525ATP7Bc.*1564T= (n.*1564T=)
c.*2658T= (n.*2658T=)
c.3293T= (p.Leu1098=)
c.3914T= (p.Leu1305=)
c.3581T= (p.Leu1194=)
c.3662T= (p.Leu1221=)
n.1237T=
c.3680T= (p.Leu1227=)
n.4053T=
n.780T=
c.2849T= (p.Leu950=)
c.2624T= (p.Leu875=)
c.3719T= (p.Leu1240=)
c.1692T=
c.*1015T= (n.*1015T=)
n.4658T=
n.3259T=
c.3770T= (p.Leu1257=)
c.3818T= (p.Leu1273=)
c.3878T= (p.Leu1293=)
c.3428T= (p.Leu1143=)
c.1730T= (p.Leu577=)
c.1547T= (p.Leu516=)
c.3779T= (p.Leu1260=)
c.3731T= (p.Leu1244=)
c.3500T= (p.Leu1167=)
c.3401T= (p.Leu1134=)
c.2582T= (p.Leu861=)
n.4133T=
13g.51937383A>CCA388021232ATP7Bc.*1564T>G (n.*1564T>G)
c.*2658T>G (n.*2658T>G)
c.3293T>G (p.Leu1098Arg)
c.3914T>G (p.Leu1305Arg)
c.3581T>G (p.Leu1194Arg)
c.3662T>G (p.Leu1221Arg)
n.1237T>G
c.3680T>G (p.Leu1227Arg)
n.4053T>G
n.780T>G
c.2849T>G (p.Leu950Arg)
c.2624T>G (p.Leu875Arg)
c.3719T>G (p.Leu1240Arg)
c.1692T>G
c.*1015T>G (n.*1015T>G)
n.4658T>G
n.3259T>G
c.3770T>G (p.Leu1257Arg)
c.3818T>G (p.Leu1273Arg)
c.3878T>G (p.Leu1293Arg)
c.3428T>G (p.Leu1143Arg)
c.1730T>G (p.Leu577Arg)
c.1547T>G (p.Leu516Arg)
c.3779T>G (p.Leu1260Arg)
c.3731T>G (p.Leu1244Arg)
c.3500T>G (p.Leu1167Arg)
c.3401T>G (p.Leu1134Arg)
c.2582T>G (p.Leu861Arg)
n.4133T>G
13g.51937383A>GCA6988534ATP7Bc.*1564T>C (n.*1564T>C)
c.*2658T>C (n.*2658T>C)
c.3293T>C (p.Leu1098Pro)
c.3914T>C (p.Leu1305Pro)
c.3581T>C (p.Leu1194Pro)
c.3662T>C (p.Leu1221Pro)
n.1237T>C
c.3680T>C (p.Leu1227Pro)
n.4053T>C
n.780T>C
c.2849T>C (p.Leu950Pro)
c.2624T>C (p.Leu875Pro)
c.3719T>C (p.Leu1240Pro)
c.1692T>C
c.*1015T>C (n.*1015T>C)
n.4658T>C
n.3259T>C
c.3770T>C (p.Leu1257Pro)
c.3818T>C (p.Leu1273Pro)
c.3878T>C (p.Leu1293Pro)
c.3428T>C (p.Leu1143Pro)
c.1730T>C (p.Leu577Pro)
c.1547T>C (p.Leu516Pro)
c.3779T>C (p.Leu1260Pro)
c.3731T>C (p.Leu1244Pro)
c.3500T>C (p.Leu1167Pro)
c.3401T>C (p.Leu1134Pro)
c.2582T>C (p.Leu861Pro)
n.4133T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937383A>TCA388021229ATP7Bc.*1564T>A (n.*1564T>A)
c.*2658T>A (n.*2658T>A)
c.3293T>A (p.Leu1098Gln)
c.3914T>A (p.Leu1305Gln)
c.3581T>A (p.Leu1194Gln)
c.3662T>A (p.Leu1221Gln)
n.1237T>A
c.3680T>A (p.Leu1227Gln)
n.4053T>A
n.780T>A
c.2849T>A (p.Leu950Gln)
c.2624T>A (p.Leu875Gln)
c.3719T>A (p.Leu1240Gln)
c.1692T>A
c.*1015T>A (n.*1015T>A)
n.4658T>A
n.3259T>A
c.3770T>A (p.Leu1257Gln)
c.3818T>A (p.Leu1273Gln)
c.3878T>A (p.Leu1293Gln)
c.3428T>A (p.Leu1143Gln)
c.1730T>A (p.Leu577Gln)
c.1547T>A (p.Leu516Gln)
c.3779T>A (p.Leu1260Gln)
c.3731T>A (p.Leu1244Gln)
c.3500T>A (p.Leu1167Gln)
c.3401T>A (p.Leu1134Gln)
c.2582T>A (p.Leu861Gln)
n.4133T>A
13g.51937384G>ACA484024262ATP7Bc.*1563C>T (n.*1563C>T)
c.*2657C>T (n.*2657C>T)
c.3292C>T (p.Leu1098=)
c.3913C>T (p.Leu1305=)
c.3580C>T (p.Leu1194=)
c.3661C>T (p.Leu1221=)
n.1236C>T
c.3679C>T (p.Leu1227=)
n.4052C>T
n.779C>T
c.2848C>T (p.Leu950=)
c.2623C>T (p.Leu875=)
c.3718C>T (p.Leu1240=)
c.1691C>T
c.*1014C>T (n.*1014C>T)
n.4657C>T
n.3258C>T
c.3769C>T (p.Leu1257=)
c.3817C>T (p.Leu1273=)
c.3877C>T (p.Leu1293=)
c.3427C>T (p.Leu1143=)
c.1729C>T (p.Leu577=)
c.1546C>T (p.Leu516=)
c.3778C>T (p.Leu1260=)
c.3730C>T (p.Leu1244=)
c.3499C>T (p.Leu1167=)
c.3400C>T (p.Leu1134=)
c.2581C>T (p.Leu861=)
n.4132C>T
 dbSNP gnomAD v2 gnomAD v4
13g.51937384G>CCA388021233ATP7Bc.*1563C>G (n.*1563C>G)
c.*2657C>G (n.*2657C>G)
c.3292C>G (p.Leu1098Val)
c.3913C>G (p.Leu1305Val)
c.3580C>G (p.Leu1194Val)
c.3661C>G (p.Leu1221Val)
n.1236C>G
c.3679C>G (p.Leu1227Val)
n.4052C>G
n.779C>G
c.2848C>G (p.Leu950Val)
c.2623C>G (p.Leu875Val)
c.3718C>G (p.Leu1240Val)
c.1691C>G
c.*1014C>G (n.*1014C>G)
n.4657C>G
n.3258C>G
c.3769C>G (p.Leu1257Val)
c.3817C>G (p.Leu1273Val)
c.3877C>G (p.Leu1293Val)
c.3427C>G (p.Leu1143Val)
c.1729C>G (p.Leu577Val)
c.1546C>G (p.Leu516Val)
c.3778C>G (p.Leu1260Val)
c.3730C>G (p.Leu1244Val)
c.3499C>G (p.Leu1167Val)
c.3400C>G (p.Leu1134Val)
c.2581C>G (p.Leu861Val)
n.4132C>G
13g.51937384G=CA2091553532ATP7Bc.*1563C= (n.*1563C=)
c.*2657C= (n.*2657C=)
c.3292C= (p.Leu1098=)
c.3913C= (p.Leu1305=)
c.3580C= (p.Leu1194=)
c.3661C= (p.Leu1221=)
n.1236C=
c.3679C= (p.Leu1227=)
n.4052C=
n.779C=
c.2848C= (p.Leu950=)
c.2623C= (p.Leu875=)
c.3718C= (p.Leu1240=)
c.1691C=
c.*1014C= (n.*1014C=)
n.4657C=
n.3258C=
c.3769C= (p.Leu1257=)
c.3817C= (p.Leu1273=)
c.3877C= (p.Leu1293=)
c.3427C= (p.Leu1143=)
c.1729C= (p.Leu577=)
c.1546C= (p.Leu516=)
c.3778C= (p.Leu1260=)
c.3730C= (p.Leu1244=)
c.3499C= (p.Leu1167=)
c.3400C= (p.Leu1134=)
c.2581C= (p.Leu861=)
n.4132C=
13g.51937384G>TCA388021234ATP7Bc.*1563C>A (n.*1563C>A)
c.*2657C>A (n.*2657C>A)
c.3292C>A (p.Leu1098Met)
c.3913C>A (p.Leu1305Met)
c.3580C>A (p.Leu1194Met)
c.3661C>A (p.Leu1221Met)
n.1236C>A
c.3679C>A (p.Leu1227Met)
n.4052C>A
n.779C>A
c.2848C>A (p.Leu950Met)
c.2623C>A (p.Leu875Met)
c.3718C>A (p.Leu1240Met)
c.1691C>A
c.*1014C>A (n.*1014C>A)
n.4657C>A
n.3258C>A
c.3769C>A (p.Leu1257Met)
c.3817C>A (p.Leu1273Met)
c.3877C>A (p.Leu1293Met)
c.3427C>A (p.Leu1143Met)
c.1729C>A (p.Leu577Met)
c.1546C>A (p.Leu516Met)
c.3778C>A (p.Leu1260Met)
c.3730C>A (p.Leu1244Met)
c.3499C>A (p.Leu1167Met)
c.3400C>A (p.Leu1134Met)
c.2581C>A (p.Leu861Met)
n.4132C>A
13g.51937384_51937385delinsAACA658798147ATP7Bc.*1562_*1563delinsTT (n.*1562_*1563delinsTT)
c.*2656_*2657delinsTT (n.*2656_*2657delinsTT)
c.3291_3292delinsTT (p.Leu1097Phe)
c.3912_3913delinsTT (p.Leu1304Phe)
c.3579_3580delinsTT (p.Leu1193Phe)
c.3660_3661delinsTT (p.Leu1220Phe)
n.1235_1236delinsTT
c.3678_3679delinsTT (p.Leu1226Phe)
n.4051_4052delinsTT
n.778_779delinsTT
c.2847_2848delinsTT (p.Leu949Phe)
c.2622_2623delinsTT (p.Leu874Phe)
c.3717_3718delinsTT (p.Leu1239Phe)
c.1690_1691delinsTT
c.*1013_*1014delinsTT (n.*1013_*1014delinsTT)
n.4656_4657delinsTT
n.3257_3258delinsTT
c.3768_3769delinsTT (p.Leu1256Phe)
c.3816_3817delinsTT (p.Leu1272Phe)
c.3876_3877delinsTT (p.Leu1292Phe)
c.3426_3427delinsTT (p.Leu1142Phe)
c.1728_1729delinsTT (p.Leu576Phe)
c.1545_1546delinsTT (p.Leu515Phe)
c.3777_3778delinsTT (p.Leu1259Phe)
c.3729_3730delinsTT (p.Leu1243Phe)
c.3498_3499delinsTT (p.Leu1166Phe)
c.3399_3400delinsTT (p.Leu1133Phe)
c.2580_2581delinsTT (p.Leu860Phe)
n.4131_4132delinsTT
 ClinVar dbSNP
13g.51937384_51937385delinsGCCA2091553533ATP7Bc.*1562_*1563delinsGC (n.*1562_*1563delinsGC)
c.*2656_*2657delinsGC (n.*2656_*2657delinsGC)
c.3291_3292delinsGC (p.Leu1097=)
c.3912_3913delinsGC (p.Leu1304=)
c.3579_3580delinsGC (p.Leu1193=)
c.3660_3661delinsGC (p.Leu1220=)
n.1235_1236delinsGC
c.3678_3679delinsGC (p.Leu1226=)
n.4051_4052delinsGC
n.778_779delinsGC
c.2847_2848delinsGC (p.Leu949=)
c.2622_2623delinsGC (p.Leu874=)
c.3717_3718delinsGC (p.Leu1239=)
c.1690_1691delinsGC
c.*1013_*1014delinsGC (n.*1013_*1014delinsGC)
n.4656_4657delinsGC
n.3257_3258delinsGC
c.3768_3769delinsGC (p.Leu1256=)
c.3816_3817delinsGC (p.Leu1272=)
c.3876_3877delinsGC (p.Leu1292=)
c.3426_3427delinsGC (p.Leu1142=)
c.1728_1729delinsGC (p.Leu576=)
c.1545_1546delinsGC (p.Leu515=)
c.3777_3778delinsGC (p.Leu1259=)
c.3729_3730delinsGC (p.Leu1243=)
c.3498_3499delinsGC (p.Leu1166=)
c.3399_3400delinsGC (p.Leu1133=)
c.2580_2581delinsGC (p.Leu860=)
n.4131_4132delinsGC
13g.51937385C>ACA6988535ATP7Bc.*1562G>T (n.*1562G>T)
c.*2656G>T (n.*2656G>T)
c.3291G>T (p.Leu1097Phe)
c.3912G>T (p.Leu1304Phe)
c.3579G>T (p.Leu1193Phe)
c.3660G>T (p.Leu1220Phe)
n.1235G>T
c.3678G>T (p.Leu1226Phe)
n.4051G>T
n.778G>T
c.2847G>T (p.Leu949Phe)
c.2622G>T (p.Leu874Phe)
c.3717G>T (p.Leu1239Phe)
c.1690G>T
c.*1013G>T (n.*1013G>T)
n.4656G>T
n.3257G>T
c.3768G>T (p.Leu1256Phe)
c.3816G>T (p.Leu1272Phe)
c.3876G>T (p.Leu1292Phe)
c.3426G>T (p.Leu1142Phe)
c.1728G>T (p.Leu576Phe)
c.1545G>T (p.Leu515Phe)
c.3777G>T (p.Leu1259Phe)
c.3729G>T (p.Leu1243Phe)
c.3498G>T (p.Leu1166Phe)
c.3399G>T (p.Leu1133Phe)
c.2580G>T (p.Leu860Phe)
n.4131G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51937385C=CA2091553541ATP7Bc.*1562G= (n.*1562G=)
c.*2656G= (n.*2656G=)
c.3291G= (p.Leu1097=)
c.3912G= (p.Leu1304=)
c.3579G= (p.Leu1193=)
c.3660G= (p.Leu1220=)
n.1235G=
c.3678G= (p.Leu1226=)
n.4051G=
n.778G=
c.2847G= (p.Leu949=)
c.2622G= (p.Leu874=)
c.3717G= (p.Leu1239=)
c.1690G=
c.*1013G= (n.*1013G=)
n.4656G=
n.3257G=
c.3768G= (p.Leu1256=)
c.3816G= (p.Leu1272=)
c.3876G= (p.Leu1292=)
c.3426G= (p.Leu1142=)
c.1728G= (p.Leu576=)
c.1545G= (p.Leu515=)
c.3777G= (p.Leu1259=)
c.3729G= (p.Leu1243=)
c.3498G= (p.Leu1166=)
c.3399G= (p.Leu1133=)
c.2580G= (p.Leu860=)
n.4131G=
13g.51937385C>GCA388021237ATP7Bc.*1562G>C (n.*1562G>C)
c.*2656G>C (n.*2656G>C)
c.3291G>C (p.Leu1097Phe)
c.3912G>C (p.Leu1304Phe)
c.3579G>C (p.Leu1193Phe)
c.3660G>C (p.Leu1220Phe)
n.1235G>C
c.3678G>C (p.Leu1226Phe)
n.4051G>C
n.778G>C
c.2847G>C (p.Leu949Phe)
c.2622G>C (p.Leu874Phe)
c.3717G>C (p.Leu1239Phe)
c.1690G>C
c.*1013G>C (n.*1013G>C)
n.4656G>C
n.3257G>C
c.3768G>C (p.Leu1256Phe)
c.3816G>C (p.Leu1272Phe)
c.3876G>C (p.Leu1292Phe)
c.3426G>C (p.Leu1142Phe)
c.1728G>C (p.Leu576Phe)
c.1545G>C (p.Leu515Phe)
c.3777G>C (p.Leu1259Phe)
c.3729G>C (p.Leu1243Phe)
c.3498G>C (p.Leu1166Phe)
c.3399G>C (p.Leu1133Phe)
c.2580G>C (p.Leu860Phe)
n.4131G>C
13g.51937385C>TCA484024263ATP7Bc.*1562G>A (n.*1562G>A)
c.*2656G>A (n.*2656G>A)
c.3291G>A (p.Leu1097=)
c.3912G>A (p.Leu1304=)
c.3579G>A (p.Leu1193=)
c.3660G>A (p.Leu1220=)
n.1235G>A
c.3678G>A (p.Leu1226=)
n.4051G>A
n.778G>A
c.2847G>A (p.Leu949=)
c.2622G>A (p.Leu874=)
c.3717G>A (p.Leu1239=)
c.1690G>A
c.*1013G>A (n.*1013G>A)
n.4656G>A
n.3257G>A
c.3768G>A (p.Leu1256=)
c.3816G>A (p.Leu1272=)
c.3876G>A (p.Leu1292=)
c.3426G>A (p.Leu1142=)
c.1728G>A (p.Leu576=)
c.1545G>A (p.Leu515=)
c.3777G>A (p.Leu1259=)
c.3729G>A (p.Leu1243=)
c.3498G>A (p.Leu1166=)
c.3399G>A (p.Leu1133=)
c.2580G>A (p.Leu860=)
n.4131G>A
 ClinVar dbSNP
13g.51937386A>CCA388021238ATP7Bc.*1561T>G (n.*1561T>G)
c.*2655T>G (n.*2655T>G)
c.3290T>G (p.Leu1097Trp)
c.3911T>G (p.Leu1304Trp)
c.3578T>G (p.Leu1193Trp)
c.3659T>G (p.Leu1220Trp)
n.1234T>G
c.3677T>G (p.Leu1226Trp)
n.4050T>G
n.777T>G
c.2846T>G (p.Leu949Trp)
c.2621T>G (p.Leu874Trp)
c.3716T>G (p.Leu1239Trp)
c.1689T>G
c.*1012T>G (n.*1012T>G)
n.4655T>G
n.3256T>G
c.3767T>G (p.Leu1256Trp)
c.3815T>G (p.Leu1272Trp)
c.3875T>G (p.Leu1292Trp)
c.3425T>G (p.Leu1142Trp)
c.1727T>G (p.Leu576Trp)
c.1544T>G (p.Leu515Trp)
c.3776T>G (p.Leu1259Trp)
c.3728T>G (p.Leu1243Trp)
c.3497T>G (p.Leu1166Trp)
c.3398T>G (p.Leu1133Trp)
c.2579T>G (p.Leu860Trp)
n.4130T>G
13g.51937386A>GCA388021240ATP7Bc.*1561T>C (n.*1561T>C)
c.*2655T>C (n.*2655T>C)
c.3290T>C (p.Leu1097Ser)
c.3911T>C (p.Leu1304Ser)
c.3578T>C (p.Leu1193Ser)
c.3659T>C (p.Leu1220Ser)
n.1234T>C
c.3677T>C (p.Leu1226Ser)
n.4050T>C
n.777T>C
c.2846T>C (p.Leu949Ser)
c.2621T>C (p.Leu874Ser)
c.3716T>C (p.Leu1239Ser)
c.1689T>C
c.*1012T>C (n.*1012T>C)
n.4655T>C
n.3256T>C
c.3767T>C (p.Leu1256Ser)
c.3815T>C (p.Leu1272Ser)
c.3875T>C (p.Leu1292Ser)
c.3425T>C (p.Leu1142Ser)
c.1727T>C (p.Leu576Ser)
c.1544T>C (p.Leu515Ser)
c.3776T>C (p.Leu1259Ser)
c.3728T>C (p.Leu1243Ser)
c.3497T>C (p.Leu1166Ser)
c.3398T>C (p.Leu1133Ser)
c.2579T>C (p.Leu860Ser)
n.4130T>C
13g.51937386A>TCA388021243ATP7Bc.*1561T>A (n.*1561T>A)
c.*2655T>A (n.*2655T>A)
c.3290T>A (p.Leu1097Ter)
c.3911T>A (p.Leu1304Ter)
c.3578T>A (p.Leu1193Ter)
c.3659T>A (p.Leu1220Ter)
n.1234T>A
c.3677T>A (p.Leu1226Ter)
n.4050T>A
n.777T>A
c.2846T>A (p.Leu949Ter)
c.2621T>A (p.Leu874Ter)
c.3716T>A (p.Leu1239Ter)
c.1689T>A
c.*1012T>A (n.*1012T>A)
n.4655T>A
n.3256T>A
c.3767T>A (p.Leu1256Ter)
c.3815T>A (p.Leu1272Ter)
c.3875T>A (p.Leu1292Ter)
c.3425T>A (p.Leu1142Ter)
c.1727T>A (p.Leu576Ter)
c.1544T>A (p.Leu515Ter)
c.3776T>A (p.Leu1259Ter)
c.3728T>A (p.Leu1243Ter)
c.3497T>A (p.Leu1166Ter)
c.3398T>A (p.Leu1133Ter)
c.2579T>A (p.Leu860Ter)
n.4130T>A
13g.51937387A>CCA388021245ATP7Bc.*1560T>G (n.*1560T>G)
c.*2654T>G (n.*2654T>G)
c.3289T>G (p.Leu1097Val)
c.3910T>G (p.Leu1304Val)
c.3577T>G (p.Leu1193Val)
c.3658T>G (p.Leu1220Val)
n.1233T>G
c.3676T>G (p.Leu1226Val)
n.4049T>G
n.776T>G
c.2845T>G (p.Leu949Val)
c.2620T>G (p.Leu874Val)
c.3715T>G (p.Leu1239Val)
c.1688T>G
c.*1011T>G (n.*1011T>G)
n.4654T>G
n.3255T>G
c.3766T>G (p.Leu1256Val)
c.3814T>G (p.Leu1272Val)
c.3874T>G (p.Leu1292Val)
c.3424T>G (p.Leu1142Val)
c.1726T>G (p.Leu576Val)
c.1543T>G (p.Leu515Val)
c.3775T>G (p.Leu1259Val)
c.3727T>G (p.Leu1243Val)
c.3496T>G (p.Leu1166Val)
c.3397T>G (p.Leu1133Val)
c.2578T>G (p.Leu860Val)
n.4129T>G
13g.51937387A>GCA484024264ATP7Bc.*1560T>C (n.*1560T>C)
c.*2654T>C (n.*2654T>C)
c.3289T>C (p.Leu1097=)
c.3910T>C (p.Leu1304=)
c.3577T>C (p.Leu1193=)
c.3658T>C (p.Leu1220=)
n.1233T>C
c.3676T>C (p.Leu1226=)
n.4049T>C
n.776T>C
c.2845T>C (p.Leu949=)
c.2620T>C (p.Leu874=)
c.3715T>C (p.Leu1239=)
c.1688T>C
c.*1011T>C (n.*1011T>C)
n.4654T>C
n.3255T>C
c.3766T>C (p.Leu1256=)
c.3814T>C (p.Leu1272=)
c.3874T>C (p.Leu1292=)
c.3424T>C (p.Leu1142=)
c.1726T>C (p.Leu576=)
c.1543T>C (p.Leu515=)
c.3775T>C (p.Leu1259=)
c.3727T>C (p.Leu1243=)
c.3496T>C (p.Leu1166=)
c.3397T>C (p.Leu1133=)
c.2578T>C (p.Leu860=)
n.4129T>C
13g.51937387A>TCA388021248ATP7Bc.*1560T>A (n.*1560T>A)
c.*2654T>A (n.*2654T>A)
c.3289T>A (p.Leu1097Met)
c.3910T>A (p.Leu1304Met)
c.3577T>A (p.Leu1193Met)
c.3658T>A (p.Leu1220Met)
n.1233T>A
c.3676T>A (p.Leu1226Met)
n.4049T>A
n.776T>A
c.2845T>A (p.Leu949Met)
c.2620T>A (p.Leu874Met)
c.3715T>A (p.Leu1239Met)
c.1688T>A
c.*1011T>A (n.*1011T>A)
n.4654T>A
n.3255T>A
c.3766T>A (p.Leu1256Met)
c.3814T>A (p.Leu1272Met)
c.3874T>A (p.Leu1292Met)
c.3424T>A (p.Leu1142Met)
c.1726T>A (p.Leu576Met)
c.1543T>A (p.Leu515Met)
c.3775T>A (p.Leu1259Met)
c.3727T>A (p.Leu1243Met)
c.3496T>A (p.Leu1166Met)
c.3397T>A (p.Leu1133Met)
c.2578T>A (p.Leu860Met)
n.4129T>A
13g.51937388A>CCA388021251ATP7Bc.*1559T>G (n.*1559T>G)
c.*2653T>G (n.*2653T>G)
c.3288T>G (p.Asp1096Glu)
c.3909T>G (p.Asp1303Glu)
c.3576T>G (p.Asp1192Glu)
c.3657T>G (p.Asp1219Glu)
n.1232T>G
c.3675T>G (p.Asp1225Glu)
n.4048T>G
n.775T>G
c.2844T>G (p.Asp948Glu)
c.2619T>G (p.Asp873Glu)
c.3714T>G (p.Asp1238Glu)
c.1687T>G
c.*1010T>G (n.*1010T>G)
n.4653T>G
n.3254T>G
c.3765T>G (p.Asp1255Glu)
c.3813T>G (p.Asp1271Glu)
c.3873T>G (p.Asp1291Glu)
c.3423T>G (p.Asp1141Glu)
c.1725T>G (p.Asp575Glu)
c.1542T>G (p.Asp514Glu)
c.3774T>G (p.Asp1258Glu)
c.3726T>G (p.Asp1242Glu)
c.3495T>G (p.Asp1165Glu)
c.3396T>G (p.Asp1132Glu)
c.2577T>G (p.Asp859Glu)
n.4128T>G
13g.51937388A>GCA484024265ATP7Bc.*1559T>C (n.*1559T>C)
c.*2653T>C (n.*2653T>C)
c.3288T>C (p.Asp1096=)
c.3909T>C (p.Asp1303=)
c.3576T>C (p.Asp1192=)
c.3657T>C (p.Asp1219=)
n.1232T>C
c.3675T>C (p.Asp1225=)
n.4048T>C
n.775T>C
c.2844T>C (p.Asp948=)
c.2619T>C (p.Asp873=)
c.3714T>C (p.Asp1238=)
c.1687T>C
c.*1010T>C (n.*1010T>C)
n.4653T>C
n.3254T>C
c.3765T>C (p.Asp1255=)
c.3813T>C (p.Asp1271=)
c.3873T>C (p.Asp1291=)
c.3423T>C (p.Asp1141=)
c.1725T>C (p.Asp575=)
c.1542T>C (p.Asp514=)
c.3774T>C (p.Asp1258=)
c.3726T>C (p.Asp1242=)
c.3495T>C (p.Asp1165=)
c.3396T>C (p.Asp1132=)
c.2577T>C (p.Asp859=)
n.4128T>C
13g.51937388A>TCA388021254ATP7Bc.*1559T>A (n.*1559T>A)
c.*2653T>A (n.*2653T>A)
c.3288T>A (p.Asp1096Glu)
c.3909T>A (p.Asp1303Glu)
c.3576T>A (p.Asp1192Glu)
c.3657T>A (p.Asp1219Glu)
n.1232T>A
c.3675T>A (p.Asp1225Glu)
n.4048T>A
n.775T>A
c.2844T>A (p.Asp948Glu)
c.2619T>A (p.Asp873Glu)
c.3714T>A (p.Asp1238Glu)
c.1687T>A
c.*1010T>A (n.*1010T>A)
n.4653T>A
n.3254T>A
c.3765T>A (p.Asp1255Glu)
c.3813T>A (p.Asp1271Glu)
c.3873T>A (p.Asp1291Glu)
c.3423T>A (p.Asp1141Glu)
c.1725T>A (p.Asp575Glu)
c.1542T>A (p.Asp514Glu)
c.3774T>A (p.Asp1258Glu)
c.3726T>A (p.Asp1242Glu)
c.3495T>A (p.Asp1165Glu)
c.3396T>A (p.Asp1132Glu)
c.2577T>A (p.Asp859Glu)
n.4128T>A
13g.51937389T>ACA388021256ATP7Bc.*1558A>T (n.*1558A>T)
c.*2652A>T (n.*2652A>T)
c.3287A>T (p.Asp1096Val)
c.3908A>T (p.Asp1303Val)
c.3575A>T (p.Asp1192Val)
c.3656A>T (p.Asp1219Val)
n.1231A>T
c.3674A>T (p.Asp1225Val)
n.4047A>T
n.774A>T
c.2843A>T (p.Asp948Val)
c.2618A>T (p.Asp873Val)
c.3713A>T (p.Asp1238Val)
c.1686A>T
c.*1009A>T (n.*1009A>T)
n.4652A>T
n.3253A>T
c.3764A>T (p.Asp1255Val)
c.3812A>T (p.Asp1271Val)
c.3872A>T (p.Asp1291Val)
c.3422A>T (p.Asp1141Val)
c.1724A>T (p.Asp575Val)
c.1541A>T (p.Asp514Val)
c.3773A>T (p.Asp1258Val)
c.3725A>T (p.Asp1242Val)
c.3494A>T (p.Asp1165Val)
c.3395A>T (p.Asp1132Val)
c.2576A>T (p.Asp859Val)
n.4127A>T
 gnomAD v4 COSMIC
13g.51937389T>CCA388021258ATP7Bc.*1558A>G (n.*1558A>G)
c.*2652A>G (n.*2652A>G)
c.3287A>G (p.Asp1096Gly)
c.3908A>G (p.Asp1303Gly)
c.3575A>G (p.Asp1192Gly)
c.3656A>G (p.Asp1219Gly)
n.1231A>G
c.3674A>G (p.Asp1225Gly)
n.4047A>G
n.774A>G
c.2843A>G (p.Asp948Gly)
c.2618A>G (p.Asp873Gly)
c.3713A>G (p.Asp1238Gly)
c.1686A>G
c.*1009A>G (n.*1009A>G)
n.4652A>G
n.3253A>G
c.3764A>G (p.Asp1255Gly)
c.3812A>G (p.Asp1271Gly)
c.3872A>G (p.Asp1291Gly)
c.3422A>G (p.Asp1141Gly)
c.1724A>G (p.Asp575Gly)
c.1541A>G (p.Asp514Gly)
c.3773A>G (p.Asp1258Gly)
c.3725A>G (p.Asp1242Gly)
c.3494A>G (p.Asp1165Gly)
c.3395A>G (p.Asp1132Gly)
c.2576A>G (p.Asp859Gly)
n.4127A>G
13g.51937389T>GCA6988536ATP7Bc.*1558A>C (n.*1558A>C)
c.*2652A>C (n.*2652A>C)
c.3287A>C (p.Asp1096Ala)
c.3908A>C (p.Asp1303Ala)
c.3575A>C (p.Asp1192Ala)
c.3656A>C (p.Asp1219Ala)
n.1231A>C
c.3674A>C (p.Asp1225Ala)
n.4047A>C
n.774A>C
c.2843A>C (p.Asp948Ala)
c.2618A>C (p.Asp873Ala)
c.3713A>C (p.Asp1238Ala)
c.1686A>C
c.*1009A>C (n.*1009A>C)
n.4652A>C
n.3253A>C
c.3764A>C (p.Asp1255Ala)
c.3812A>C (p.Asp1271Ala)
c.3872A>C (p.Asp1291Ala)
c.3422A>C (p.Asp1141Ala)
c.1724A>C (p.Asp575Ala)
c.1541A>C (p.Asp514Ala)
c.3773A>C (p.Asp1258Ala)
c.3725A>C (p.Asp1242Ala)
c.3494A>C (p.Asp1165Ala)
c.3395A>C (p.Asp1132Ala)
c.2576A>C (p.Asp859Ala)
n.4127A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51937389T=CA2091553543ATP7Bc.*1558A= (n.*1558A=)
c.*2652A= (n.*2652A=)
c.3287A= (p.Asp1096=)
c.3908A= (p.Asp1303=)
c.3575A= (p.Asp1192=)
c.3656A= (p.Asp1219=)
n.1231A=
c.3674A= (p.Asp1225=)
n.4047A=
n.774A=
c.2843A= (p.Asp948=)
c.2618A= (p.Asp873=)
c.3713A= (p.Asp1238=)
c.1686A=
c.*1009A= (n.*1009A=)
n.4652A=
n.3253A=
c.3764A= (p.Asp1255=)
c.3812A= (p.Asp1271=)
c.3872A= (p.Asp1291=)
c.3422A= (p.Asp1141=)
c.1724A= (p.Asp575=)
c.1541A= (p.Asp514=)
c.3773A= (p.Asp1258=)
c.3725A= (p.Asp1242=)
c.3494A= (p.Asp1165=)
c.3395A= (p.Asp1132=)
c.2576A= (p.Asp859=)
n.4127A=
13g.51937390C>ACA388021271ATP7Bc.*1557G>T (n.*1557G>T)
c.*2651G>T (n.*2651G>T)
c.3286G>T (p.Asp1096Tyr)
c.3907G>T (p.Asp1303Tyr)
c.3574G>T (p.Asp1192Tyr)
c.3655G>T (p.Asp1219Tyr)
n.1230G>T
c.3673G>T (p.Asp1225Tyr)
n.4046G>T
n.773G>T
c.2842G>T (p.Asp948Tyr)
c.2617G>T (p.Asp873Tyr)
c.3712G>T (p.Asp1238Tyr)
c.1685G>T
c.*1008G>T (n.*1008G>T)
n.4651G>T
n.3252G>T
c.3763G>T (p.Asp1255Tyr)
c.3811G>T (p.Asp1271Tyr)
c.3871G>T (p.Asp1291Tyr)
c.3421G>T (p.Asp1141Tyr)
c.1723G>T (p.Asp575Tyr)
c.1540G>T (p.Asp514Tyr)
c.3772G>T (p.Asp1258Tyr)
c.3724G>T (p.Asp1242Tyr)
c.3493G>T (p.Asp1165Tyr)
c.3394G>T (p.Asp1132Tyr)
c.2575G>T (p.Asp859Tyr)
n.4126G>T
13g.51937390C>GCA388021266ATP7Bc.*1557G>C (n.*1557G>C)
c.*2651G>C (n.*2651G>C)
c.3286G>C (p.Asp1096His)
c.3907G>C (p.Asp1303His)
c.3574G>C (p.Asp1192His)
c.3655G>C (p.Asp1219His)
n.1230G>C
c.3673G>C (p.Asp1225His)
n.4046G>C
n.773G>C
c.2842G>C (p.Asp948His)
c.2617G>C (p.Asp873His)
c.3712G>C (p.Asp1238His)
c.1685G>C
c.*1008G>C (n.*1008G>C)
n.4651G>C
n.3252G>C
c.3763G>C (p.Asp1255His)
c.3811G>C (p.Asp1271His)
c.3871G>C (p.Asp1291His)
c.3421G>C (p.Asp1141His)
c.1723G>C (p.Asp575His)
c.1540G>C (p.Asp514His)
c.3772G>C (p.Asp1258His)
c.3724G>C (p.Asp1242His)
c.3493G>C (p.Asp1165His)
c.3394G>C (p.Asp1132His)
c.2575G>C (p.Asp859His)
n.4126G>C
13g.51937390C>TCA388021268ATP7Bc.*1557G>A (n.*1557G>A)
c.*2651G>A (n.*2651G>A)
c.3286G>A (p.Asp1096Asn)
c.3907G>A (p.Asp1303Asn)
c.3574G>A (p.Asp1192Asn)
c.3655G>A (p.Asp1219Asn)
n.1230G>A
c.3673G>A (p.Asp1225Asn)
n.4046G>A
n.773G>A
c.2842G>A (p.Asp948Asn)
c.2617G>A (p.Asp873Asn)
c.3712G>A (p.Asp1238Asn)
c.1685G>A
c.*1008G>A (n.*1008G>A)
n.4651G>A
n.3252G>A
c.3763G>A (p.Asp1255Asn)
c.3811G>A (p.Asp1271Asn)
c.3871G>A (p.Asp1291Asn)
c.3421G>A (p.Asp1141Asn)
c.1723G>A (p.Asp575Asn)
c.1540G>A (p.Asp514Asn)
c.3772G>A (p.Asp1258Asn)
c.3724G>A (p.Asp1242Asn)
c.3493G>A (p.Asp1165Asn)
c.3394G>A (p.Asp1132Asn)
c.2575G>A (p.Asp859Asn)
n.4126G>A
 COSMIC
13g.51937391A>CCA388021275ATP7Bc.*1556T>G (n.*1556T>G)
c.*2650T>G (n.*2650T>G)
c.3285T>G (p.Asn1095Lys)
c.3906T>G (p.Asn1302Lys)
c.3573T>G (p.Asn1191Lys)
c.3654T>G (p.Asn1218Lys)
n.1229T>G
c.3672T>G (p.Asn1224Lys)
n.4045T>G
n.772T>G
c.2841T>G (p.Asn947Lys)
c.2616T>G (p.Asn872Lys)
c.3711T>G (p.Asn1237Lys)
c.1684T>G
c.*1007T>G (n.*1007T>G)
n.4650T>G
n.3251T>G
c.3762T>G (p.Asn1254Lys)
c.3810T>G (p.Asn1270Lys)
c.3870T>G (p.Asn1290Lys)
c.3420T>G (p.Asn1140Lys)
c.1722T>G (p.Asn574Lys)
c.1539T>G (p.Asn513Lys)
c.3771T>G (p.Asn1257Lys)
c.3723T>G (p.Asn1241Lys)
c.3492T>G (p.Asn1164Lys)
c.3393T>G (p.Asn1131Lys)
c.2574T>G (p.Asn858Lys)
n.4125T>G
13g.51937391A>GCA484024266ATP7Bc.*1556T>C (n.*1556T>C)
c.*2650T>C (n.*2650T>C)
c.3285T>C (p.Asn1095=)
c.3906T>C (p.Asn1302=)
c.3573T>C (p.Asn1191=)
c.3654T>C (p.Asn1218=)
n.1229T>C
c.3672T>C (p.Asn1224=)
n.4045T>C
n.772T>C
c.2841T>C (p.Asn947=)
c.2616T>C (p.Asn872=)
c.3711T>C (p.Asn1237=)
c.1684T>C
c.*1007T>C (n.*1007T>C)
n.4650T>C
n.3251T>C
c.3762T>C (p.Asn1254=)
c.3810T>C (p.Asn1270=)
c.3870T>C (p.Asn1290=)
c.3420T>C (p.Asn1140=)
c.1722T>C (p.Asn574=)
c.1539T>C (p.Asn513=)
c.3771T>C (p.Asn1257=)
c.3723T>C (p.Asn1241=)
c.3492T>C (p.Asn1164=)
c.3393T>C (p.Asn1131=)
c.2574T>C (p.Asn858=)
n.4125T>C
13g.51937391A>TCA388021277ATP7Bc.*1556T>A (n.*1556T>A)
c.*2650T>A (n.*2650T>A)
c.3285T>A (p.Asn1095Lys)
c.3906T>A (p.Asn1302Lys)
c.3573T>A (p.Asn1191Lys)
c.3654T>A (p.Asn1218Lys)
n.1229T>A
c.3672T>A (p.Asn1224Lys)
n.4045T>A
n.772T>A
c.2841T>A (p.Asn947Lys)
c.2616T>A (p.Asn872Lys)
c.3711T>A (p.Asn1237Lys)
c.1684T>A
c.*1007T>A (n.*1007T>A)
n.4650T>A
n.3251T>A
c.3762T>A (p.Asn1254Lys)
c.3810T>A (p.Asn1270Lys)
c.3870T>A (p.Asn1290Lys)
c.3420T>A (p.Asn1140Lys)
c.1722T>A (p.Asn574Lys)
c.1539T>A (p.Asn513Lys)
c.3771T>A (p.Asn1257Lys)
c.3723T>A (p.Asn1241Lys)
c.3492T>A (p.Asn1164Lys)
c.3393T>A (p.Asn1131Lys)
c.2574T>A (p.Asn858Lys)
n.4125T>A
13g.51937392T>ACA388021280ATP7Bc.*1555A>T (n.*1555A>T)
c.*2649A>T (n.*2649A>T)
c.3284A>T (p.Asn1095Ile)
c.3905A>T (p.Asn1302Ile)
c.3572A>T (p.Asn1191Ile)
c.3653A>T (p.Asn1218Ile)
n.1228A>T
c.3671A>T (p.Asn1224Ile)
n.4044A>T
n.771A>T
c.2840A>T (p.Asn947Ile)
c.2615A>T (p.Asn872Ile)
c.3710A>T (p.Asn1237Ile)
c.1683A>T
c.*1006A>T (n.*1006A>T)
n.4649A>T
n.3250A>T
c.3761A>T (p.Asn1254Ile)
c.3809A>T (p.Asn1270Ile)
c.3869A>T (p.Asn1290Ile)
c.3419A>T (p.Asn1140Ile)
c.1721A>T (p.Asn574Ile)
c.1538A>T (p.Asn513Ile)
c.3770A>T (p.Asn1257Ile)
c.3722A>T (p.Asn1241Ile)
c.3491A>T (p.Asn1164Ile)
c.3392A>T (p.Asn1131Ile)
c.2573A>T (p.Asn858Ile)
n.4124A>T
13g.51937392T>CCA388021282ATP7Bc.*1555A>G (n.*1555A>G)
c.*2649A>G (n.*2649A>G)
c.3284A>G (p.Asn1095Ser)
c.3905A>G (p.Asn1302Ser)
c.3572A>G (p.Asn1191Ser)
c.3653A>G (p.Asn1218Ser)
n.1228A>G
c.3671A>G (p.Asn1224Ser)
n.4044A>G
n.771A>G
c.2840A>G (p.Asn947Ser)
c.2615A>G (p.Asn872Ser)
c.3710A>G (p.Asn1237Ser)
c.1683A>G
c.*1006A>G (n.*1006A>G)
n.4649A>G
n.3250A>G
c.3761A>G (p.Asn1254Ser)
c.3809A>G (p.Asn1270Ser)
c.3869A>G (p.Asn1290Ser)
c.3419A>G (p.Asn1140Ser)
c.1721A>G (p.Asn574Ser)
c.1538A>G (p.Asn513Ser)
c.3770A>G (p.Asn1257Ser)
c.3722A>G (p.Asn1241Ser)
c.3491A>G (p.Asn1164Ser)
c.3392A>G (p.Asn1131Ser)
c.2573A>G (p.Asn858Ser)
n.4124A>G
 dbSNP gnomAD v2 gnomAD v4
13g.51937392T>GCA388021284ATP7Bc.*1555A>C (n.*1555A>C)
c.*2649A>C (n.*2649A>C)
c.3284A>C (p.Asn1095Thr)
c.3905A>C (p.Asn1302Thr)
c.3572A>C (p.Asn1191Thr)
c.3653A>C (p.Asn1218Thr)
n.1228A>C
c.3671A>C (p.Asn1224Thr)
n.4044A>C
n.771A>C
c.2840A>C (p.Asn947Thr)
c.2615A>C (p.Asn872Thr)
c.3710A>C (p.Asn1237Thr)
c.1683A>C
c.*1006A>C (n.*1006A>C)
n.4649A>C
n.3250A>C
c.3761A>C (p.Asn1254Thr)
c.3809A>C (p.Asn1270Thr)
c.3869A>C (p.Asn1290Thr)
c.3419A>C (p.Asn1140Thr)
c.1721A>C (p.Asn574Thr)
c.1538A>C (p.Asn513Thr)
c.3770A>C (p.Asn1257Thr)
c.3722A>C (p.Asn1241Thr)
c.3491A>C (p.Asn1164Thr)
c.3392A>C (p.Asn1131Thr)
c.2573A>C (p.Asn858Thr)
n.4124A>C
13g.51937392T=CA2091553548ATP7Bc.*1555A= (n.*1555A=)
c.*2649A= (n.*2649A=)
c.3284A= (p.Asn1095=)
c.3905A= (p.Asn1302=)
c.3572A= (p.Asn1191=)
c.3653A= (p.Asn1218=)
n.1228A=
c.3671A= (p.Asn1224=)
n.4044A=
n.771A=
c.2840A= (p.Asn947=)
c.2615A= (p.Asn872=)
c.3710A= (p.Asn1237=)
c.1683A=
c.*1006A= (n.*1006A=)
n.4649A=
n.3250A=
c.3761A= (p.Asn1254=)
c.3809A= (p.Asn1270=)
c.3869A= (p.Asn1290=)
c.3419A= (p.Asn1140=)
c.1721A= (p.Asn574=)
c.1538A= (p.Asn513=)
c.3770A= (p.Asn1257=)
c.3722A= (p.Asn1241=)
c.3491A= (p.Asn1164=)
c.3392A= (p.Asn1131=)
c.2573A= (p.Asn858=)
n.4124A=
13g.51937393T>ACA388021287ATP7Bc.*1554A>T (n.*1554A>T)
c.*2648A>T (n.*2648A>T)
c.3283A>T (p.Asn1095Tyr)
c.3904A>T (p.Asn1302Tyr)
c.3571A>T (p.Asn1191Tyr)
c.3652A>T (p.Asn1218Tyr)
n.1227A>T
c.3670A>T (p.Asn1224Tyr)
n.4043A>T
n.770A>T
c.2839A>T (p.Asn947Tyr)
c.2614A>T (p.Asn872Tyr)
c.3709A>T (p.Asn1237Tyr)
c.1682A>T
c.*1005A>T (n.*1005A>T)
n.4648A>T
n.3249A>T
c.3760A>T (p.Asn1254Tyr)
c.3808A>T (p.Asn1270Tyr)
c.3868A>T (p.Asn1290Tyr)
c.3418A>T (p.Asn1140Tyr)
c.1720A>T (p.Asn574Tyr)
c.1537A>T (p.Asn513Tyr)
c.3769A>T (p.Asn1257Tyr)
c.3721A>T (p.Asn1241Tyr)
c.3490A>T (p.Asn1164Tyr)
c.3391A>T (p.Asn1131Tyr)
c.2572A>T (p.Asn858Tyr)
n.4123A>T
13g.51937393T>CCA388021290ATP7Bc.*1554A>G (n.*1554A>G)
c.*2648A>G (n.*2648A>G)
c.3283A>G (p.Asn1095Asp)
c.3904A>G (p.Asn1302Asp)
c.3571A>G (p.Asn1191Asp)
c.3652A>G (p.Asn1218Asp)
n.1227A>G
c.3670A>G (p.Asn1224Asp)
n.4043A>G
n.770A>G
c.2839A>G (p.Asn947Asp)
c.2614A>G (p.Asn872Asp)
c.3709A>G (p.Asn1237Asp)
c.1682A>G
c.*1005A>G (n.*1005A>G)
n.4648A>G
n.3249A>G
c.3760A>G (p.Asn1254Asp)
c.3808A>G (p.Asn1270Asp)
c.3868A>G (p.Asn1290Asp)
c.3418A>G (p.Asn1140Asp)
c.1720A>G (p.Asn574Asp)
c.1537A>G (p.Asn513Asp)
c.3769A>G (p.Asn1257Asp)
c.3721A>G (p.Asn1241Asp)
c.3490A>G (p.Asn1164Asp)
c.3391A>G (p.Asn1131Asp)
c.2572A>G (p.Asn858Asp)
n.4123A>G
 dbSNP
13g.51937393T>GCA388021292ATP7Bc.*1554A>C (n.*1554A>C)
c.*2648A>C (n.*2648A>C)
c.3283A>C (p.Asn1095His)
c.3904A>C (p.Asn1302His)
c.3571A>C (p.Asn1191His)
c.3652A>C (p.Asn1218His)
n.1227A>C
c.3670A>C (p.Asn1224His)
n.4043A>C
n.770A>C
c.2839A>C (p.Asn947His)
c.2614A>C (p.Asn872His)
c.3709A>C (p.Asn1237His)
c.1682A>C
c.*1005A>C (n.*1005A>C)
n.4648A>C
n.3249A>C
c.3760A>C (p.Asn1254His)
c.3808A>C (p.Asn1270His)
c.3868A>C (p.Asn1290His)
c.3418A>C (p.Asn1140His)
c.1720A>C (p.Asn574His)
c.1537A>C (p.Asn513His)
c.3769A>C (p.Asn1257His)
c.3721A>C (p.Asn1241His)
c.3490A>C (p.Asn1164His)
c.3391A>C (p.Asn1131His)
c.2572A>C (p.Asn858His)
n.4123A>C
13g.51937393T=CA2091553551ATP7Bc.*1554A= (n.*1554A=)
c.*2648A= (n.*2648A=)
c.3283A= (p.Asn1095=)
c.3904A= (p.Asn1302=)
c.3571A= (p.Asn1191=)
c.3652A= (p.Asn1218=)
n.1227A=
c.3670A= (p.Asn1224=)
n.4043A=
n.770A=
c.2839A= (p.Asn947=)
c.2614A= (p.Asn872=)
c.3709A= (p.Asn1237=)
c.1682A=
c.*1005A= (n.*1005A=)
n.4648A=
n.3249A=
c.3760A= (p.Asn1254=)
c.3808A= (p.Asn1270=)
c.3868A= (p.Asn1290=)
c.3418A= (p.Asn1140=)
c.1720A= (p.Asn574=)
c.1537A= (p.Asn513=)
c.3769A= (p.Asn1257=)
c.3721A= (p.Asn1241=)
c.3490A= (p.Asn1164=)
c.3391A= (p.Asn1131=)
c.2572A= (p.Asn858=)
n.4123A=
13g.51937394C>ACA388021296ATP7Bc.*1554-1G>T (n.*1554-1G>T)
c.*2648-1G>T (n.*2648-1G>T)
c.3283-1G>T (n.3283-1G>T)
c.3904-1G>T (n.3904-1G>T)
c.3571-1G>T (n.3571-1G>T)
c.3652-1G>T (n.3652-1G>T)
n.1226G>T
c.3670-1G>T (n.3670-1G>T)
n.4043-1G>T
n.770-1G>T
c.2839-1G>T (n.2839-1G>T)
c.2614-1G>T (n.2614-1G>T)
c.3709-1G>T (n.3709-1G>T)
c.1682-1G>T
c.*1005-1G>T (n.*1005-1G>T)
n.4648-1G>T
n.3249-1G>T
c.3760-1G>T (n.3760-1G>T)
c.3808-1G>T (n.3808-1G>T)
c.3868-1G>T (n.3868-1G>T)
c.3418-1G>T (n.3418-1G>T)
c.1720-1G>T (n.1720-1G>T)
c.1537-1G>T (n.1537-1G>T)
c.3769-1G>T (n.3769-1G>T)
c.3721-1G>T (n.3721-1G>T)
c.3490-1G>T (n.3490-1G>T)
c.3391-1G>T (n.3391-1G>T)
c.2572-1G>T (n.2572-1G>T)
n.4123-1G>T
13g.51937394C=CA2091553555ATP7Bc.*1554-1G= (n.*1554-1G=)
c.*2648-1G= (n.*2648-1G=)
c.3283-1G= (n.3283-1G=)
c.3904-1G= (n.3904-1G=)
c.3571-1G= (n.3571-1G=)
c.3652-1G= (n.3652-1G=)
n.1226G=
c.3670-1G= (n.3670-1G=)
n.4043-1G=
n.770-1G=
c.2839-1G= (n.2839-1G=)
c.2614-1G= (n.2614-1G=)
c.3709-1G= (n.3709-1G=)
c.1682-1G=
c.*1005-1G= (n.*1005-1G=)
n.4648-1G=
n.3249-1G=
c.3760-1G= (n.3760-1G=)
c.3808-1G= (n.3808-1G=)
c.3868-1G= (n.3868-1G=)
c.3418-1G= (n.3418-1G=)
c.1720-1G= (n.1720-1G=)
c.1537-1G= (n.1537-1G=)
c.3769-1G= (n.3769-1G=)
c.3721-1G= (n.3721-1G=)
c.3490-1G= (n.3490-1G=)
c.3391-1G= (n.3391-1G=)
c.2572-1G= (n.2572-1G=)
n.4123-1G=
13g.51937394C>GCA6988537ATP7Bc.*1554-1G>C (n.*1554-1G>C)
c.*2648-1G>C (n.*2648-1G>C)
c.3283-1G>C (n.3283-1G>C)
c.3904-1G>C (n.3904-1G>C)
c.3571-1G>C (n.3571-1G>C)
c.3652-1G>C (n.3652-1G>C)
n.1226G>C
c.3670-1G>C (n.3670-1G>C)
n.4043-1G>C
n.770-1G>C
c.2839-1G>C (n.2839-1G>C)
c.2614-1G>C (n.2614-1G>C)
c.3709-1G>C (n.3709-1G>C)
c.1682-1G>C
c.*1005-1G>C (n.*1005-1G>C)
n.4648-1G>C
n.3249-1G>C
c.3760-1G>C (n.3760-1G>C)
c.3808-1G>C (n.3808-1G>C)
c.3868-1G>C (n.3868-1G>C)
c.3418-1G>C (n.3418-1G>C)
c.1720-1G>C (n.1720-1G>C)
c.1537-1G>C (n.1537-1G>C)
c.3769-1G>C (n.3769-1G>C)
c.3721-1G>C (n.3721-1G>C)
c.3490-1G>C (n.3490-1G>C)
c.3391-1G>C (n.3391-1G>C)
c.2572-1G>C (n.2572-1G>C)
n.4123-1G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51937394C>TCA388021301ATP7Bc.*1554-1G>A (n.*1554-1G>A)
c.*2648-1G>A (n.*2648-1G>A)
c.3283-1G>A (n.3283-1G>A)
c.3904-1G>A (n.3904-1G>A)
c.3571-1G>A (n.3571-1G>A)
c.3652-1G>A (n.3652-1G>A)
n.1226G>A
c.3670-1G>A (n.3670-1G>A)
n.4043-1G>A
n.770-1G>A
c.2839-1G>A (n.2839-1G>A)
c.2614-1G>A (n.2614-1G>A)
c.3709-1G>A (n.3709-1G>A)
c.1682-1G>A
c.*1005-1G>A (n.*1005-1G>A)
n.4648-1G>A
n.3249-1G>A
c.3760-1G>A (n.3760-1G>A)
c.3808-1G>A (n.3808-1G>A)
c.3868-1G>A (n.3868-1G>A)
c.3418-1G>A (n.3418-1G>A)
c.1720-1G>A (n.1720-1G>A)
c.1537-1G>A (n.1537-1G>A)
c.3769-1G>A (n.3769-1G>A)
c.3721-1G>A (n.3721-1G>A)
c.3490-1G>A (n.3490-1G>A)
c.3391-1G>A (n.3391-1G>A)
c.2572-1G>A (n.2572-1G>A)
n.4123-1G>A
 ClinVar
13g.51937394_51937395delinsCTCA2091553558ATP7Bc.*1554-2_*1554-1delinsAG (n.*1554-2_*1554-1delinsAG)
c.*2648-2_*2648-1delinsAG (n.*2648-2_*2648-1delinsAG)
c.3283-2_3283-1delinsAG (n.3283-2_3283-1delinsAG)
c.3904-2_3904-1delinsAG (n.3904-2_3904-1delinsAG)
c.3571-2_3571-1delinsAG (n.3571-2_3571-1delinsAG)
c.3652-2_3652-1delinsAG (n.3652-2_3652-1delinsAG)
n.1225_1226delinsAG
c.3670-2_3670-1delinsAG (n.3670-2_3670-1delinsAG)
n.4043-2_4043-1delinsAG
n.770-2_770-1delinsAG
c.2839-2_2839-1delinsAG (n.2839-2_2839-1delinsAG)
c.2614-2_2614-1delinsAG (n.2614-2_2614-1delinsAG)
c.3709-2_3709-1delinsAG (n.3709-2_3709-1delinsAG)
c.1682-2_1682-1delinsAG
c.*1005-2_*1005-1delinsAG (n.*1005-2_*1005-1delinsAG)
n.4648-2_4648-1delinsAG
n.3249-2_3249-1delinsAG
c.3760-2_3760-1delinsAG (n.3760-2_3760-1delinsAG)
c.3808-2_3808-1delinsAG (n.3808-2_3808-1delinsAG)
c.3868-2_3868-1delinsAG (n.3868-2_3868-1delinsAG)
c.3418-2_3418-1delinsAG (n.3418-2_3418-1delinsAG)
c.1720-2_1720-1delinsAG (n.1720-2_1720-1delinsAG)
c.1537-2_1537-1delinsAG (n.1537-2_1537-1delinsAG)
c.3769-2_3769-1delinsAG (n.3769-2_3769-1delinsAG)
c.3721-2_3721-1delinsAG (n.3721-2_3721-1delinsAG)
c.3490-2_3490-1delinsAG (n.3490-2_3490-1delinsAG)
c.3391-2_3391-1delinsAG (n.3391-2_3391-1delinsAG)
c.2572-2_2572-1delinsAG (n.2572-2_2572-1delinsAG)
n.4123-2_4123-1delinsAG
13g.51937395delCA2091553563ATP7Bc.*1554-2del (n.*1554-2del)
c.*2648-2del (n.*2648-2del)
c.3283-2del (n.3283-2del)
c.3904-2del (n.3904-2del)
c.3571-2del (n.3571-2del)
c.3652-2del (n.3652-2del)
n.1225del
c.3670-2del (n.3670-2del)
n.4043-2del
n.770-2del
c.2839-2del (n.2839-2del)
c.2614-2del (n.2614-2del)
c.3709-2del (n.3709-2del)
c.1682-2del
c.*1005-2del (n.*1005-2del)
n.4648-2del
n.3249-2del
c.3760-2del (n.3760-2del)
c.3808-2del (n.3808-2del)
c.3868-2del (n.3868-2del)
c.3418-2del (n.3418-2del)
c.1720-2del (n.1720-2del)
c.1537-2del (n.1537-2del)
c.3769-2del (n.3769-2del)
c.3721-2del (n.3721-2del)
c.3490-2del (n.3490-2del)
c.3391-2del (n.3391-2del)
c.2572-2del (n.2572-2del)
n.4123-2del
 ClinVar dbSNP
13g.51937395T>ACA388021307ATP7Bc.*1554-2A>T (n.*1554-2A>T)
c.*2648-2A>T (n.*2648-2A>T)
c.3283-2A>T (n.3283-2A>T)
c.3904-2A>T (n.3904-2A>T)
c.3571-2A>T (n.3571-2A>T)
c.3652-2A>T (n.3652-2A>T)
n.1225A>T
c.3670-2A>T (n.3670-2A>T)
n.4043-2A>T
n.770-2A>T
c.2839-2A>T (n.2839-2A>T)
c.2614-2A>T (n.2614-2A>T)
c.3709-2A>T (n.3709-2A>T)
c.1682-2A>T
c.*1005-2A>T (n.*1005-2A>T)
n.4648-2A>T
n.3249-2A>T
c.3760-2A>T (n.3760-2A>T)
c.3808-2A>T (n.3808-2A>T)
c.3868-2A>T (n.3868-2A>T)
c.3418-2A>T (n.3418-2A>T)
c.1720-2A>T (n.1720-2A>T)
c.1537-2A>T (n.1537-2A>T)
c.3769-2A>T (n.3769-2A>T)
c.3721-2A>T (n.3721-2A>T)
c.3490-2A>T (n.3490-2A>T)
c.3391-2A>T (n.3391-2A>T)
c.2572-2A>T (n.2572-2A>T)
n.4123-2A>T
13g.51937395T>CCA16041663ATP7Bc.*1554-2A>G (n.*1554-2A>G)
c.*2648-2A>G (n.*2648-2A>G)
c.3283-2A>G (n.3283-2A>G)
c.3904-2A>G (n.3904-2A>G)
c.3571-2A>G (n.3571-2A>G)
c.3652-2A>G (n.3652-2A>G)
n.1225A>G
c.3670-2A>G (n.3670-2A>G)
n.4043-2A>G
n.770-2A>G
c.2839-2A>G (n.2839-2A>G)
c.2614-2A>G (n.2614-2A>G)
c.3709-2A>G (n.3709-2A>G)
c.1682-2A>G
c.*1005-2A>G (n.*1005-2A>G)
n.4648-2A>G
n.3249-2A>G
c.3760-2A>G (n.3760-2A>G)
c.3808-2A>G (n.3808-2A>G)
c.3868-2A>G (n.3868-2A>G)
c.3418-2A>G (n.3418-2A>G)
c.1720-2A>G (n.1720-2A>G)
c.1537-2A>G (n.1537-2A>G)
c.3769-2A>G (n.3769-2A>G)
c.3721-2A>G (n.3721-2A>G)
c.3490-2A>G (n.3490-2A>G)
c.3391-2A>G (n.3391-2A>G)
c.2572-2A>G (n.2572-2A>G)
n.4123-2A>G
 ClinVar dbSNP
13g.51937395T>GCA388021304ATP7Bc.*1554-2A>C (n.*1554-2A>C)
c.*2648-2A>C (n.*2648-2A>C)
c.3283-2A>C (n.3283-2A>C)
c.3904-2A>C (n.3904-2A>C)
c.3571-2A>C (n.3571-2A>C)
c.3652-2A>C (n.3652-2A>C)
n.1225A>C
c.3670-2A>C (n.3670-2A>C)
n.4043-2A>C
n.770-2A>C
c.2839-2A>C (n.2839-2A>C)
c.2614-2A>C (n.2614-2A>C)
c.3709-2A>C (n.3709-2A>C)
c.1682-2A>C
c.*1005-2A>C (n.*1005-2A>C)
n.4648-2A>C
n.3249-2A>C
c.3760-2A>C (n.3760-2A>C)
c.3808-2A>C (n.3808-2A>C)
c.3868-2A>C (n.3868-2A>C)
c.3418-2A>C (n.3418-2A>C)
c.1720-2A>C (n.1720-2A>C)
c.1537-2A>C (n.1537-2A>C)
c.3769-2A>C (n.3769-2A>C)
c.3721-2A>C (n.3721-2A>C)
c.3490-2A>C (n.3490-2A>C)
c.3391-2A>C (n.3391-2A>C)
c.2572-2A>C (n.2572-2A>C)
n.4123-2A>C
13g.51937395T=CA2091553564ATP7Bc.*1554-2A= (n.*1554-2A=)
c.*2648-2A= (n.*2648-2A=)
c.3283-2A= (n.3283-2A=)
c.3904-2A= (n.3904-2A=)
c.3571-2A= (n.3571-2A=)
c.3652-2A= (n.3652-2A=)
n.1225A=
c.3670-2A= (n.3670-2A=)
n.4043-2A=
n.770-2A=
c.2839-2A= (n.2839-2A=)
c.2614-2A= (n.2614-2A=)
c.3709-2A= (n.3709-2A=)
c.1682-2A=
c.*1005-2A= (n.*1005-2A=)
n.4648-2A=
n.3249-2A=
c.3760-2A= (n.3760-2A=)
c.3808-2A= (n.3808-2A=)
c.3868-2A= (n.3868-2A=)
c.3418-2A= (n.3418-2A=)
c.1720-2A= (n.1720-2A=)
c.1537-2A= (n.1537-2A=)
c.3769-2A= (n.3769-2A=)
c.3721-2A= (n.3721-2A=)
c.3490-2A= (n.3490-2A=)
c.3391-2A= (n.3391-2A=)
c.2572-2A= (n.2572-2A=)
n.4123-2A=
13g.51937396G>ACA645580499ATP7Bc.*1554-3C>T (n.*1554-3C>T)
c.*2648-3C>T (n.*2648-3C>T)
c.3283-3C>T (n.3283-3C>T)
c.3904-3C>T (n.3904-3C>T)
c.3571-3C>T (n.3571-3C>T)
c.3652-3C>T (n.3652-3C>T)
n.1224C>T
c.3670-3C>T (n.3670-3C>T)
n.4043-3C>T
n.770-3C>T
c.2839-3C>T (n.2839-3C>T)
c.2614-3C>T (n.2614-3C>T)
c.3709-3C>T (n.3709-3C>T)
c.1682-3C>T
c.*1005-3C>T (n.*1005-3C>T)
n.4648-3C>T
n.3249-3C>T
c.3760-3C>T (n.3760-3C>T)
c.3808-3C>T (n.3808-3C>T)
c.3868-3C>T (n.3868-3C>T)
c.3418-3C>T (n.3418-3C>T)
c.1720-3C>T (n.1720-3C>T)
c.1537-3C>T (n.1537-3C>T)
c.3769-3C>T (n.3769-3C>T)
c.3721-3C>T (n.3721-3C>T)
c.3490-3C>T (n.3490-3C>T)
c.3391-3C>T (n.3391-3C>T)
c.2572-3C>T (n.2572-3C>T)
n.4123-3C>T
 COSMIC
13g.51937396G>CCA2695218740ATP7Bc.*1554-3C>G (n.*1554-3C>G)
c.*2648-3C>G (n.*2648-3C>G)
c.3283-3C>G (n.3283-3C>G)
c.3904-3C>G (n.3904-3C>G)
c.3571-3C>G (n.3571-3C>G)
c.3652-3C>G (n.3652-3C>G)
n.1224C>G
c.3670-3C>G (n.3670-3C>G)
n.4043-3C>G
n.770-3C>G
c.2839-3C>G (n.2839-3C>G)
c.2614-3C>G (n.2614-3C>G)
c.3709-3C>G (n.3709-3C>G)
c.1682-3C>G
c.*1005-3C>G (n.*1005-3C>G)
n.4648-3C>G
n.3249-3C>G
c.3760-3C>G (n.3760-3C>G)
c.3808-3C>G (n.3808-3C>G)
c.3868-3C>G (n.3868-3C>G)
c.3418-3C>G (n.3418-3C>G)
c.1720-3C>G (n.1720-3C>G)
c.1537-3C>G (n.1537-3C>G)
c.3769-3C>G (n.3769-3C>G)
c.3721-3C>G (n.3721-3C>G)
c.3490-3C>G (n.3490-3C>G)
c.3391-3C>G (n.3391-3C>G)
c.2572-3C>G (n.2572-3C>G)
n.4123-3C>G
13g.51937398_51937401delCA2623119121ATP7Bc.*1554-6_*1554-3del (n.*1554-6_*1554-3del)
c.*2648-6_*2648-3del (n.*2648-6_*2648-3del)
c.3283-6_3283-3del (n.3283-6_3283-3del)
c.3904-6_3904-3del (n.3904-6_3904-3del)
c.3571-6_3571-3del (n.3571-6_3571-3del)
c.3652-6_3652-3del (n.3652-6_3652-3del)
n.1221_1224del
c.3670-6_3670-3del (n.3670-6_3670-3del)
n.4043-6_4043-3del
n.770-6_770-3del
c.2839-6_2839-3del (n.2839-6_2839-3del)
c.2614-6_2614-3del (n.2614-6_2614-3del)
c.3709-6_3709-3del (n.3709-6_3709-3del)
c.1682-6_1682-3del
c.*1005-6_*1005-3del (n.*1005-6_*1005-3del)
n.4648-6_4648-3del
n.3249-6_3249-3del
c.3760-6_3760-3del (n.3760-6_3760-3del)
c.3808-6_3808-3del (n.3808-6_3808-3del)
c.3868-6_3868-3del (n.3868-6_3868-3del)
c.3418-6_3418-3del (n.3418-6_3418-3del)
c.1720-6_1720-3del (n.1720-6_1720-3del)
c.1537-6_1537-3del (n.1537-6_1537-3del)
c.3769-6_3769-3del (n.3769-6_3769-3del)
c.3721-6_3721-3del (n.3721-6_3721-3del)
c.3490-6_3490-3del (n.3490-6_3490-3del)
c.3391-6_3391-3del (n.3391-6_3391-3del)
c.2572-6_2572-3del (n.2572-6_2572-3del)
n.4123-6_4123-3del
 gnomAD v4
13g.51937397A>GCA2623119122ATP7Bc.*1554-4T>C (n.*1554-4T>C)
c.*2648-4T>C (n.*2648-4T>C)
c.3283-4T>C (n.3283-4T>C)
c.3904-4T>C (n.3904-4T>C)
c.3571-4T>C (n.3571-4T>C)
c.3652-4T>C (n.3652-4T>C)
n.1223T>C
c.3670-4T>C (n.3670-4T>C)
n.4043-4T>C
n.770-4T>C
c.2839-4T>C (n.2839-4T>C)
c.2614-4T>C (n.2614-4T>C)
c.3709-4T>C (n.3709-4T>C)
c.1682-4T>C
c.*1005-4T>C (n.*1005-4T>C)
n.4648-4T>C
n.3249-4T>C
c.3760-4T>C (n.3760-4T>C)
c.3808-4T>C (n.3808-4T>C)
c.3868-4T>C (n.3868-4T>C)
c.3418-4T>C (n.3418-4T>C)
c.1720-4T>C (n.1720-4T>C)
c.1537-4T>C (n.1537-4T>C)
c.3769-4T>C (n.3769-4T>C)
c.3721-4T>C (n.3721-4T>C)
c.3490-4T>C (n.3490-4T>C)
c.3391-4T>C (n.3391-4T>C)
c.2572-4T>C (n.2572-4T>C)
n.4123-4T>C
 gnomAD v4
13g.51937398T>CCA2623119123ATP7Bc.*1554-5A>G (n.*1554-5A>G)
c.*2648-5A>G (n.*2648-5A>G)
c.3283-5A>G (n.3283-5A>G)
c.3904-5A>G (n.3904-5A>G)
c.3571-5A>G (n.3571-5A>G)
c.3652-5A>G (n.3652-5A>G)
n.1222A>G
c.3670-5A>G (n.3670-5A>G)
n.4043-5A>G
n.770-5A>G
c.2839-5A>G (n.2839-5A>G)
c.2614-5A>G (n.2614-5A>G)
c.3709-5A>G (n.3709-5A>G)
c.1682-5A>G
c.*1005-5A>G (n.*1005-5A>G)
n.4648-5A>G
n.3249-5A>G
c.3760-5A>G (n.3760-5A>G)
c.3808-5A>G (n.3808-5A>G)
c.3868-5A>G (n.3868-5A>G)
c.3418-5A>G (n.3418-5A>G)
c.1720-5A>G (n.1720-5A>G)
c.1537-5A>G (n.1537-5A>G)
c.3769-5A>G (n.3769-5A>G)
c.3721-5A>G (n.3721-5A>G)
c.3490-5A>G (n.3490-5A>G)
c.3391-5A>G (n.3391-5A>G)
c.2572-5A>G (n.2572-5A>G)
n.4123-5A>G
 gnomAD v4
13g.51937399G>ACA2499222485ATP7Bc.*1554-6C>T (n.*1554-6C>T)
c.*2648-6C>T (n.*2648-6C>T)
c.3283-6C>T (n.3283-6C>T)
c.3904-6C>T (n.3904-6C>T)
c.3571-6C>T (n.3571-6C>T)
c.3652-6C>T (n.3652-6C>T)
n.1221C>T
c.3670-6C>T (n.3670-6C>T)
n.4043-6C>T
n.770-6C>T
c.2839-6C>T (n.2839-6C>T)
c.2614-6C>T (n.2614-6C>T)
c.3709-6C>T (n.3709-6C>T)
c.1682-6C>T
c.*1005-6C>T (n.*1005-6C>T)
n.4648-6C>T
n.3249-6C>T
c.3760-6C>T (n.3760-6C>T)
c.3808-6C>T (n.3808-6C>T)
c.3868-6C>T (n.3868-6C>T)
c.3418-6C>T (n.3418-6C>T)
c.1720-6C>T (n.1720-6C>T)
c.1537-6C>T (n.1537-6C>T)
c.3769-6C>T (n.3769-6C>T)
c.3721-6C>T (n.3721-6C>T)
c.3490-6C>T (n.3490-6C>T)
c.3391-6C>T (n.3391-6C>T)
c.2572-6C>T (n.2572-6C>T)
n.4123-6C>T
 ClinVar dbSNP gnomAD v4
13g.51937401A=CA2091553568ATP7Bc.*1554-8T= (n.*1554-8T=)
c.*2648-8T= (n.*2648-8T=)
c.3283-8T= (n.3283-8T=)
c.3904-8T= (n.3904-8T=)
c.3571-8T= (n.3571-8T=)
c.3652-8T= (n.3652-8T=)
n.1219T=
c.3670-8T= (n.3670-8T=)
n.4043-8T=
n.770-8T=
c.2839-8T= (n.2839-8T=)
c.2614-8T= (n.2614-8T=)
c.3709-8T= (n.3709-8T=)
c.1682-8T=
c.*1005-8T= (n.*1005-8T=)
n.4648-8T=
n.3249-8T=
c.3760-8T= (n.3760-8T=)
c.3808-8T= (n.3808-8T=)
c.3868-8T= (n.3868-8T=)
c.3418-8T= (n.3418-8T=)
c.1720-8T= (n.1720-8T=)
c.1537-8T= (n.1537-8T=)
c.3769-8T= (n.3769-8T=)
c.3721-8T= (n.3721-8T=)
c.3490-8T= (n.3490-8T=)
c.3391-8T= (n.3391-8T=)
c.2572-8T= (n.2572-8T=)
n.4123-8T=
13g.51937401A>GCA956026903ATP7Bc.*1554-8T>C (n.*1554-8T>C)
c.*2648-8T>C (n.*2648-8T>C)
c.3283-8T>C (n.3283-8T>C)
c.3904-8T>C (n.3904-8T>C)
c.3571-8T>C (n.3571-8T>C)
c.3652-8T>C (n.3652-8T>C)
n.1219T>C
c.3670-8T>C (n.3670-8T>C)
n.4043-8T>C
n.770-8T>C
c.2839-8T>C (n.2839-8T>C)
c.2614-8T>C (n.2614-8T>C)
c.3709-8T>C (n.3709-8T>C)
c.1682-8T>C
c.*1005-8T>C (n.*1005-8T>C)
n.4648-8T>C
n.3249-8T>C
c.3760-8T>C (n.3760-8T>C)
c.3808-8T>C (n.3808-8T>C)
c.3868-8T>C (n.3868-8T>C)
c.3418-8T>C (n.3418-8T>C)
c.1720-8T>C (n.1720-8T>C)
c.1537-8T>C (n.1537-8T>C)
c.3769-8T>C (n.3769-8T>C)
c.3721-8T>C (n.3721-8T>C)
c.3490-8T>C (n.3490-8T>C)
c.3391-8T>C (n.3391-8T>C)
c.2572-8T>C (n.2572-8T>C)
n.4123-8T>C
 dbSNP gnomAD v3 gnomAD v4
13g.51937402G>ACA6988538ATP7Bc.*1554-9C>T (n.*1554-9C>T)
c.*2648-9C>T (n.*2648-9C>T)
c.3283-9C>T (n.3283-9C>T)
c.3904-9C>T (n.3904-9C>T)
c.3571-9C>T (n.3571-9C>T)
c.3652-9C>T (n.3652-9C>T)
n.1218C>T
c.3670-9C>T (n.3670-9C>T)
n.4043-9C>T
n.770-9C>T
c.2839-9C>T (n.2839-9C>T)
c.2614-9C>T (n.2614-9C>T)
c.3709-9C>T (n.3709-9C>T)
c.1682-9C>T
c.*1005-9C>T (n.*1005-9C>T)
n.4648-9C>T
n.3249-9C>T
c.3760-9C>T (n.3760-9C>T)
c.3808-9C>T (n.3808-9C>T)
c.3868-9C>T (n.3868-9C>T)
c.3418-9C>T (n.3418-9C>T)
c.1720-9C>T (n.1720-9C>T)
c.1537-9C>T (n.1537-9C>T)
c.3769-9C>T (n.3769-9C>T)
c.3721-9C>T (n.3721-9C>T)
c.3490-9C>T (n.3490-9C>T)
c.3391-9C>T (n.3391-9C>T)
c.2572-9C>T (n.2572-9C>T)
n.4123-9C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937402G>CCA2623119128ATP7Bc.*1554-9C>G (n.*1554-9C>G)
c.*2648-9C>G (n.*2648-9C>G)
c.3283-9C>G (n.3283-9C>G)
c.3904-9C>G (n.3904-9C>G)
c.3571-9C>G (n.3571-9C>G)
c.3652-9C>G (n.3652-9C>G)
n.1218C>G
c.3670-9C>G (n.3670-9C>G)
n.4043-9C>G
n.770-9C>G
c.2839-9C>G (n.2839-9C>G)
c.2614-9C>G (n.2614-9C>G)
c.3709-9C>G (n.3709-9C>G)
c.1682-9C>G
c.*1005-9C>G (n.*1005-9C>G)
n.4648-9C>G
n.3249-9C>G
c.3760-9C>G (n.3760-9C>G)
c.3808-9C>G (n.3808-9C>G)
c.3868-9C>G (n.3868-9C>G)
c.3418-9C>G (n.3418-9C>G)
c.1720-9C>G (n.1720-9C>G)
c.1537-9C>G (n.1537-9C>G)
c.3769-9C>G (n.3769-9C>G)
c.3721-9C>G (n.3721-9C>G)
c.3490-9C>G (n.3490-9C>G)
c.3391-9C>G (n.3391-9C>G)
c.2572-9C>G (n.2572-9C>G)
n.4123-9C>G
 gnomAD v4
13g.51937402G=CA2091553571ATP7Bc.*1554-9C= (n.*1554-9C=)
c.*2648-9C= (n.*2648-9C=)
c.3283-9C= (n.3283-9C=)
c.3904-9C= (n.3904-9C=)
c.3571-9C= (n.3571-9C=)
c.3652-9C= (n.3652-9C=)
n.1218C=
c.3670-9C= (n.3670-9C=)
n.4043-9C=
n.770-9C=
c.2839-9C= (n.2839-9C=)
c.2614-9C= (n.2614-9C=)
c.3709-9C= (n.3709-9C=)
c.1682-9C=
c.*1005-9C= (n.*1005-9C=)
n.4648-9C=
n.3249-9C=
c.3760-9C= (n.3760-9C=)
c.3808-9C= (n.3808-9C=)
c.3868-9C= (n.3868-9C=)
c.3418-9C= (n.3418-9C=)
c.1720-9C= (n.1720-9C=)
c.1537-9C= (n.1537-9C=)
c.3769-9C= (n.3769-9C=)
c.3721-9C= (n.3721-9C=)
c.3490-9C= (n.3490-9C=)
c.3391-9C= (n.3391-9C=)
c.2572-9C= (n.2572-9C=)
n.4123-9C=

Number of alleles fetched