Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51934923G>ACA250071636ATP7Bc.*1881C>T (n.*1881C>T)
c.*2975C>T (n.*2975C>T)
c.3610C>T (p.Arg1204Trp)
c.4231C>T (p.Arg1411Trp)
c.3898C>T (p.Arg1300Trp)
c.3979C>T (p.Arg1327Trp)
n.1554C>T
c.3997C>T (p.Arg1333Trp)
n.4370C>T
n.1097C>T
c.3166C>T (p.Arg1056Trp)
c.2941C>T (p.Arg981Trp)
c.4036C>T (p.Arg1346Trp)
c.2009C>T
c.*1332C>T (n.*1332C>T)
n.4975C>T
n.3576C>T
c.4087C>T (p.Arg1363Trp)
c.4135C>T (p.Arg1379Trp)
c.4195C>T (p.Arg1399Trp)
c.3745C>T (p.Arg1249Trp)
c.2047C>T (p.Arg683Trp)
c.1864C>T (p.Arg622Trp)
c.4096C>T (p.Arg1366Trp)
c.4048C>T (p.Arg1350Trp)
c.3817C>T (p.Arg1273Trp)
c.3718C>T (p.Arg1240Trp)
c.2899C>T (p.Arg967Trp)
n.4450C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51934923G>CCA388019479ATP7Bc.*1881C>G (n.*1881C>G)
c.*2975C>G (n.*2975C>G)
c.3610C>G (p.Arg1204Gly)
c.4231C>G (p.Arg1411Gly)
c.3898C>G (p.Arg1300Gly)
c.3979C>G (p.Arg1327Gly)
n.1554C>G
c.3997C>G (p.Arg1333Gly)
n.4370C>G
n.1097C>G
c.3166C>G (p.Arg1056Gly)
c.2941C>G (p.Arg981Gly)
c.4036C>G (p.Arg1346Gly)
c.2009C>G
c.*1332C>G (n.*1332C>G)
n.4975C>G
n.3576C>G
c.4087C>G (p.Arg1363Gly)
c.4135C>G (p.Arg1379Gly)
c.4195C>G (p.Arg1399Gly)
c.3745C>G (p.Arg1249Gly)
c.2047C>G (p.Arg683Gly)
c.1864C>G (p.Arg622Gly)
c.4096C>G (p.Arg1366Gly)
c.4048C>G (p.Arg1350Gly)
c.3817C>G (p.Arg1273Gly)
c.3718C>G (p.Arg1240Gly)
c.2899C>G (p.Arg967Gly)
n.4450C>G
 ClinVar dbSNP
13g.51934923G=CA2091550424ATP7Bc.*1881C= (n.*1881C=)
c.*2975C= (n.*2975C=)
c.3610C= (p.Arg1204=)
c.4231C= (p.Arg1411=)
c.3898C= (p.Arg1300=)
c.3979C= (p.Arg1327=)
n.1554C=
c.3997C= (p.Arg1333=)
n.4370C=
n.1097C=
c.3166C= (p.Arg1056=)
c.2941C= (p.Arg981=)
c.4036C= (p.Arg1346=)
c.2009C=
c.*1332C= (n.*1332C=)
n.4975C=
n.3576C=
c.4087C= (p.Arg1363=)
c.4135C= (p.Arg1379=)
c.4195C= (p.Arg1399=)
c.3745C= (p.Arg1249=)
c.2047C= (p.Arg683=)
c.1864C= (p.Arg622=)
c.4096C= (p.Arg1366=)
c.4048C= (p.Arg1350=)
c.3817C= (p.Arg1273=)
c.3718C= (p.Arg1240=)
c.2899C= (p.Arg967=)
n.4450C=
13g.51934923G>TCA484024182ATP7Bc.*1881C>A (n.*1881C>A)
c.*2975C>A (n.*2975C>A)
c.3610C>A (p.Arg1204=)
c.4231C>A (p.Arg1411=)
c.3898C>A (p.Arg1300=)
c.3979C>A (p.Arg1327=)
n.1554C>A
c.3997C>A (p.Arg1333=)
n.4370C>A
n.1097C>A
c.3166C>A (p.Arg1056=)
c.2941C>A (p.Arg981=)
c.4036C>A (p.Arg1346=)
c.2009C>A
c.*1332C>A (n.*1332C>A)
n.4975C>A
n.3576C>A
c.4087C>A (p.Arg1363=)
c.4135C>A (p.Arg1379=)
c.4195C>A (p.Arg1399=)
c.3745C>A (p.Arg1249=)
c.2047C>A (p.Arg683=)
c.1864C>A (p.Arg622=)
c.4096C>A (p.Arg1366=)
c.4048C>A (p.Arg1350=)
c.3817C>A (p.Arg1273=)
c.3718C>A (p.Arg1240=)
c.2899C>A (p.Arg967=)
n.4450C>A
13g.51934924C>ACA388019482ATP7Bc.*1880G>T (n.*1880G>T)
c.*2974G>T (n.*2974G>T)
c.3609G>T (p.Trp1203Cys)
c.4230G>T (p.Trp1410Cys)
c.3897G>T (p.Trp1299Cys)
c.3978G>T (p.Trp1326Cys)
n.1553G>T
c.3996G>T (p.Trp1332Cys)
n.4369G>T
n.1096G>T
c.3165G>T (p.Trp1055Cys)
c.2940G>T (p.Trp980Cys)
c.4035G>T (p.Trp1345Cys)
c.2008G>T
c.*1331G>T (n.*1331G>T)
n.4974G>T
n.3575G>T
c.4086G>T (p.Trp1362Cys)
c.4134G>T (p.Trp1378Cys)
c.4194G>T (p.Trp1398Cys)
c.3744G>T (p.Trp1248Cys)
c.2046G>T (p.Trp682Cys)
c.1863G>T (p.Trp621Cys)
c.4095G>T (p.Trp1365Cys)
c.4047G>T (p.Trp1349Cys)
c.3816G>T (p.Trp1272Cys)
c.3717G>T (p.Trp1239Cys)
c.2898G>T (p.Trp966Cys)
n.4449G>T
13g.51934924C>GCA388019485ATP7Bc.*1880G>C (n.*1880G>C)
c.*2974G>C (n.*2974G>C)
c.3609G>C (p.Trp1203Cys)
c.4230G>C (p.Trp1410Cys)
c.3897G>C (p.Trp1299Cys)
c.3978G>C (p.Trp1326Cys)
n.1553G>C
c.3996G>C (p.Trp1332Cys)
n.4369G>C
n.1096G>C
c.3165G>C (p.Trp1055Cys)
c.2940G>C (p.Trp980Cys)
c.4035G>C (p.Trp1345Cys)
c.2008G>C
c.*1331G>C (n.*1331G>C)
n.4974G>C
n.3575G>C
c.4086G>C (p.Trp1362Cys)
c.4134G>C (p.Trp1378Cys)
c.4194G>C (p.Trp1398Cys)
c.3744G>C (p.Trp1248Cys)
c.2046G>C (p.Trp682Cys)
c.1863G>C (p.Trp621Cys)
c.4095G>C (p.Trp1365Cys)
c.4047G>C (p.Trp1349Cys)
c.3816G>C (p.Trp1272Cys)
c.3717G>C (p.Trp1239Cys)
c.2898G>C (p.Trp966Cys)
n.4449G>C
13g.51934924C>TCA388019487ATP7Bc.*1880G>A (n.*1880G>A)
c.*2974G>A (n.*2974G>A)
c.3609G>A (p.Trp1203Ter)
c.4230G>A (p.Trp1410Ter)
c.3897G>A (p.Trp1299Ter)
c.3978G>A (p.Trp1326Ter)
n.1553G>A
c.3996G>A (p.Trp1332Ter)
n.4369G>A
n.1096G>A
c.3165G>A (p.Trp1055Ter)
c.2940G>A (p.Trp980Ter)
c.4035G>A (p.Trp1345Ter)
c.2008G>A
c.*1331G>A (n.*1331G>A)
n.4974G>A
n.3575G>A
c.4086G>A (p.Trp1362Ter)
c.4134G>A (p.Trp1378Ter)
c.4194G>A (p.Trp1398Ter)
c.3744G>A (p.Trp1248Ter)
c.2046G>A (p.Trp682Ter)
c.1863G>A (p.Trp621Ter)
c.4095G>A (p.Trp1365Ter)
c.4047G>A (p.Trp1349Ter)
c.3816G>A (p.Trp1272Ter)
c.3717G>A (p.Trp1239Ter)
c.2898G>A (p.Trp966Ter)
n.4449G>A
 ClinVar
13g.51934925C>ACA388019489ATP7Bc.*1879G>T (n.*1879G>T)
c.*2973G>T (n.*2973G>T)
c.3608G>T (p.Trp1203Leu)
c.4229G>T (p.Trp1410Leu)
c.3896G>T (p.Trp1299Leu)
c.3977G>T (p.Trp1326Leu)
n.1552G>T
c.3995G>T (p.Trp1332Leu)
n.4368G>T
n.1095G>T
c.3164G>T (p.Trp1055Leu)
c.2939G>T (p.Trp980Leu)
c.4034G>T (p.Trp1345Leu)
c.2007G>T
c.*1330G>T (n.*1330G>T)
n.4973G>T
n.3574G>T
c.4085G>T (p.Trp1362Leu)
c.4133G>T (p.Trp1378Leu)
c.4193G>T (p.Trp1398Leu)
c.3743G>T (p.Trp1248Leu)
c.2045G>T (p.Trp682Leu)
c.1862G>T (p.Trp621Leu)
c.4094G>T (p.Trp1365Leu)
c.4046G>T (p.Trp1349Leu)
c.3815G>T (p.Trp1272Leu)
c.3716G>T (p.Trp1239Leu)
c.2897G>T (p.Trp966Leu)
n.4448G>T
13g.51934925C>GCA388019491ATP7Bc.*1879G>C (n.*1879G>C)
c.*2973G>C (n.*2973G>C)
c.3608G>C (p.Trp1203Ser)
c.4229G>C (p.Trp1410Ser)
c.3896G>C (p.Trp1299Ser)
c.3977G>C (p.Trp1326Ser)
n.1552G>C
c.3995G>C (p.Trp1332Ser)
n.4368G>C
n.1095G>C
c.3164G>C (p.Trp1055Ser)
c.2939G>C (p.Trp980Ser)
c.4034G>C (p.Trp1345Ser)
c.2007G>C
c.*1330G>C (n.*1330G>C)
n.4973G>C
n.3574G>C
c.4085G>C (p.Trp1362Ser)
c.4133G>C (p.Trp1378Ser)
c.4193G>C (p.Trp1398Ser)
c.3743G>C (p.Trp1248Ser)
c.2045G>C (p.Trp682Ser)
c.1862G>C (p.Trp621Ser)
c.4094G>C (p.Trp1365Ser)
c.4046G>C (p.Trp1349Ser)
c.3815G>C (p.Trp1272Ser)
c.3716G>C (p.Trp1239Ser)
c.2897G>C (p.Trp966Ser)
n.4448G>C
13g.51934925C>TCA388019493ATP7Bc.*1879G>A (n.*1879G>A)
c.*2973G>A (n.*2973G>A)
c.3608G>A (p.Trp1203Ter)
c.4229G>A (p.Trp1410Ter)
c.3896G>A (p.Trp1299Ter)
c.3977G>A (p.Trp1326Ter)
n.1552G>A
c.3995G>A (p.Trp1332Ter)
n.4368G>A
n.1095G>A
c.3164G>A (p.Trp1055Ter)
c.2939G>A (p.Trp980Ter)
c.4034G>A (p.Trp1345Ter)
c.2007G>A
c.*1330G>A (n.*1330G>A)
n.4973G>A
n.3574G>A
c.4085G>A (p.Trp1362Ter)
c.4133G>A (p.Trp1378Ter)
c.4193G>A (p.Trp1398Ter)
c.3743G>A (p.Trp1248Ter)
c.2045G>A (p.Trp682Ter)
c.1862G>A (p.Trp621Ter)
c.4094G>A (p.Trp1365Ter)
c.4046G>A (p.Trp1349Ter)
c.3815G>A (p.Trp1272Ter)
c.3716G>A (p.Trp1239Ter)
c.2897G>A (p.Trp966Ter)
n.4448G>A
 ClinVar
13g.51934926A=CA2091550428ATP7Bc.*1878T= (n.*1878T=)
c.*2972T= (n.*2972T=)
c.3607T= (p.Trp1203=)
c.4228T= (p.Trp1410=)
c.3895T= (p.Trp1299=)
c.3976T= (p.Trp1326=)
n.1551T=
c.3994T= (p.Trp1332=)
n.4367T=
n.1094T=
c.3163T= (p.Trp1055=)
c.2938T= (p.Trp980=)
c.4033T= (p.Trp1345=)
c.2006T=
c.*1329T= (n.*1329T=)
n.4972T=
n.3573T=
c.4084T= (p.Trp1362=)
c.4132T= (p.Trp1378=)
c.4192T= (p.Trp1398=)
c.3742T= (p.Trp1248=)
c.2044T= (p.Trp682=)
c.1861T= (p.Trp621=)
c.4093T= (p.Trp1365=)
c.4045T= (p.Trp1349=)
c.3814T= (p.Trp1272=)
c.3715T= (p.Trp1239=)
c.2896T= (p.Trp966=)
n.4447T=
13g.51934926A>CCA6988452ATP7Bc.*1878T>G (n.*1878T>G)
c.*2972T>G (n.*2972T>G)
c.3607T>G (p.Trp1203Gly)
c.4228T>G (p.Trp1410Gly)
c.3895T>G (p.Trp1299Gly)
c.3976T>G (p.Trp1326Gly)
n.1551T>G
c.3994T>G (p.Trp1332Gly)
n.4367T>G
n.1094T>G
c.3163T>G (p.Trp1055Gly)
c.2938T>G (p.Trp980Gly)
c.4033T>G (p.Trp1345Gly)
c.2006T>G
c.*1329T>G (n.*1329T>G)
n.4972T>G
n.3573T>G
c.4084T>G (p.Trp1362Gly)
c.4132T>G (p.Trp1378Gly)
c.4192T>G (p.Trp1398Gly)
c.3742T>G (p.Trp1248Gly)
c.2044T>G (p.Trp682Gly)
c.1861T>G (p.Trp621Gly)
c.4093T>G (p.Trp1365Gly)
c.4045T>G (p.Trp1349Gly)
c.3814T>G (p.Trp1272Gly)
c.3715T>G (p.Trp1239Gly)
c.2896T>G (p.Trp966Gly)
n.4447T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934926A>GCA388019498ATP7Bc.*1878T>C (n.*1878T>C)
c.*2972T>C (n.*2972T>C)
c.3607T>C (p.Trp1203Arg)
c.4228T>C (p.Trp1410Arg)
c.3895T>C (p.Trp1299Arg)
c.3976T>C (p.Trp1326Arg)
n.1551T>C
c.3994T>C (p.Trp1332Arg)
n.4367T>C
n.1094T>C
c.3163T>C (p.Trp1055Arg)
c.2938T>C (p.Trp980Arg)
c.4033T>C (p.Trp1345Arg)
c.2006T>C
c.*1329T>C (n.*1329T>C)
n.4972T>C
n.3573T>C
c.4084T>C (p.Trp1362Arg)
c.4132T>C (p.Trp1378Arg)
c.4192T>C (p.Trp1398Arg)
c.3742T>C (p.Trp1248Arg)
c.2044T>C (p.Trp682Arg)
c.1861T>C (p.Trp621Arg)
c.4093T>C (p.Trp1365Arg)
c.4045T>C (p.Trp1349Arg)
c.3814T>C (p.Trp1272Arg)
c.3715T>C (p.Trp1239Arg)
c.2896T>C (p.Trp966Arg)
n.4447T>C
 dbSNP
13g.51934926A>TCA388019497ATP7Bc.*1878T>A (n.*1878T>A)
c.*2972T>A (n.*2972T>A)
c.3607T>A (p.Trp1203Arg)
c.4228T>A (p.Trp1410Arg)
c.3895T>A (p.Trp1299Arg)
c.3976T>A (p.Trp1326Arg)
n.1551T>A
c.3994T>A (p.Trp1332Arg)
n.4367T>A
n.1094T>A
c.3163T>A (p.Trp1055Arg)
c.2938T>A (p.Trp980Arg)
c.4033T>A (p.Trp1345Arg)
c.2006T>A
c.*1329T>A (n.*1329T>A)
n.4972T>A
n.3573T>A
c.4084T>A (p.Trp1362Arg)
c.4132T>A (p.Trp1378Arg)
c.4192T>A (p.Trp1398Arg)
c.3742T>A (p.Trp1248Arg)
c.2044T>A (p.Trp682Arg)
c.1861T>A (p.Trp621Arg)
c.4093T>A (p.Trp1365Arg)
c.4045T>A (p.Trp1349Arg)
c.3814T>A (p.Trp1272Arg)
c.3715T>A (p.Trp1239Arg)
c.2896T>A (p.Trp966Arg)
n.4447T>A
13g.51934927C>ACA250071648ATP7Bc.*1877G>T (n.*1877G>T)
c.*2971G>T (n.*2971G>T)
c.3606G>T (p.Arg1202Ser)
c.4227G>T (p.Arg1409Ser)
c.3894G>T (p.Arg1298Ser)
c.3975G>T (p.Arg1325Ser)
n.1550G>T
c.3993G>T (p.Arg1331Ser)
n.4366G>T
n.1093G>T
c.3162G>T (p.Arg1054Ser)
c.2937G>T (p.Arg979Ser)
c.4032G>T (p.Arg1344Ser)
c.2005G>T
c.*1328G>T (n.*1328G>T)
n.4971G>T
n.3572G>T
c.4083G>T (p.Arg1361Ser)
c.4131G>T (p.Arg1377Ser)
c.4191G>T (p.Arg1397Ser)
c.3741G>T (p.Arg1247Ser)
c.2043G>T (p.Arg681Ser)
c.1860G>T (p.Arg620Ser)
c.4092G>T (p.Arg1364Ser)
c.4044G>T (p.Arg1348Ser)
c.3813G>T (p.Arg1271Ser)
c.3714G>T (p.Arg1238Ser)
c.2895G>T (p.Arg965Ser)
n.4446G>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC
13g.51934927C=CA2091550431ATP7Bc.*1877G= (n.*1877G=)
c.*2971G= (n.*2971G=)
c.3606G= (p.Arg1202=)
c.4227G= (p.Arg1409=)
c.3894G= (p.Arg1298=)
c.3975G= (p.Arg1325=)
n.1550G=
c.3993G= (p.Arg1331=)
n.4366G=
n.1093G=
c.3162G= (p.Arg1054=)
c.2937G= (p.Arg979=)
c.4032G= (p.Arg1344=)
c.2005G=
c.*1328G= (n.*1328G=)
n.4971G=
n.3572G=
c.4083G= (p.Arg1361=)
c.4131G= (p.Arg1377=)
c.4191G= (p.Arg1397=)
c.3741G= (p.Arg1247=)
c.2043G= (p.Arg681=)
c.1860G= (p.Arg620=)
c.4092G= (p.Arg1364=)
c.4044G= (p.Arg1348=)
c.3813G= (p.Arg1271=)
c.3714G= (p.Arg1238=)
c.2895G= (p.Arg965=)
n.4446G=
13g.51934927C>GCA388019502ATP7Bc.*1877G>C (n.*1877G>C)
c.*2971G>C (n.*2971G>C)
c.3606G>C (p.Arg1202Ser)
c.4227G>C (p.Arg1409Ser)
c.3894G>C (p.Arg1298Ser)
c.3975G>C (p.Arg1325Ser)
n.1550G>C
c.3993G>C (p.Arg1331Ser)
n.4366G>C
n.1093G>C
c.3162G>C (p.Arg1054Ser)
c.2937G>C (p.Arg979Ser)
c.4032G>C (p.Arg1344Ser)
c.2005G>C
c.*1328G>C (n.*1328G>C)
n.4971G>C
n.3572G>C
c.4083G>C (p.Arg1361Ser)
c.4131G>C (p.Arg1377Ser)
c.4191G>C (p.Arg1397Ser)
c.3741G>C (p.Arg1247Ser)
c.2043G>C (p.Arg681Ser)
c.1860G>C (p.Arg620Ser)
c.4092G>C (p.Arg1364Ser)
c.4044G>C (p.Arg1348Ser)
c.3813G>C (p.Arg1271Ser)
c.3714G>C (p.Arg1238Ser)
c.2895G>C (p.Arg965Ser)
n.4446G>C
13g.51934927C>TCA484024183ATP7Bc.*1877G>A (n.*1877G>A)
c.*2971G>A (n.*2971G>A)
c.3606G>A (p.Arg1202=)
c.4227G>A (p.Arg1409=)
c.3894G>A (p.Arg1298=)
c.3975G>A (p.Arg1325=)
n.1550G>A
c.3993G>A (p.Arg1331=)
n.4366G>A
n.1093G>A
c.3162G>A (p.Arg1054=)
c.2937G>A (p.Arg979=)
c.4032G>A (p.Arg1344=)
c.2005G>A
c.*1328G>A (n.*1328G>A)
n.4971G>A
n.3572G>A
c.4083G>A (p.Arg1361=)
c.4131G>A (p.Arg1377=)
c.4191G>A (p.Arg1397=)
c.3741G>A (p.Arg1247=)
c.2043G>A (p.Arg681=)
c.1860G>A (p.Arg620=)
c.4092G>A (p.Arg1364=)
c.4044G>A (p.Arg1348=)
c.3813G>A (p.Arg1271=)
c.3714G>A (p.Arg1238=)
c.2895G>A (p.Arg965=)
n.4446G>A
 gnomAD v4
13g.51934928C>ACA388019504ATP7Bc.*1876G>T (n.*1876G>T)
c.*2970G>T (n.*2970G>T)
c.3605G>T (p.Arg1202Met)
c.4226G>T (p.Arg1409Met)
c.3893G>T (p.Arg1298Met)
c.3974G>T (p.Arg1325Met)
n.1549G>T
c.3992G>T (p.Arg1331Met)
n.4365G>T
n.1092G>T
c.3161G>T (p.Arg1054Met)
c.2936G>T (p.Arg979Met)
c.4031G>T (p.Arg1344Met)
c.2004G>T
c.*1327G>T (n.*1327G>T)
n.4970G>T
n.3571G>T
c.4082G>T (p.Arg1361Met)
c.4130G>T (p.Arg1377Met)
c.4190G>T (p.Arg1397Met)
c.3740G>T (p.Arg1247Met)
c.2042G>T (p.Arg681Met)
c.1859G>T (p.Arg620Met)
c.4091G>T (p.Arg1364Met)
c.4043G>T (p.Arg1348Met)
c.3812G>T (p.Arg1271Met)
c.3713G>T (p.Arg1238Met)
c.2894G>T (p.Arg965Met)
n.4445G>T
13g.51934928C>GCA388019506ATP7Bc.*1876G>C (n.*1876G>C)
c.*2970G>C (n.*2970G>C)
c.3605G>C (p.Arg1202Thr)
c.4226G>C (p.Arg1409Thr)
c.3893G>C (p.Arg1298Thr)
c.3974G>C (p.Arg1325Thr)
n.1549G>C
c.3992G>C (p.Arg1331Thr)
n.4365G>C
n.1092G>C
c.3161G>C (p.Arg1054Thr)
c.2936G>C (p.Arg979Thr)
c.4031G>C (p.Arg1344Thr)
c.2004G>C
c.*1327G>C (n.*1327G>C)
n.4970G>C
n.3571G>C
c.4082G>C (p.Arg1361Thr)
c.4130G>C (p.Arg1377Thr)
c.4190G>C (p.Arg1397Thr)
c.3740G>C (p.Arg1247Thr)
c.2042G>C (p.Arg681Thr)
c.1859G>C (p.Arg620Thr)
c.4091G>C (p.Arg1364Thr)
c.4043G>C (p.Arg1348Thr)
c.3812G>C (p.Arg1271Thr)
c.3713G>C (p.Arg1238Thr)
c.2894G>C (p.Arg965Thr)
n.4445G>C
 gnomAD v4
13g.51934928C>TCA388019509ATP7Bc.*1876G>A (n.*1876G>A)
c.*2970G>A (n.*2970G>A)
c.3605G>A (p.Arg1202Lys)
c.4226G>A (p.Arg1409Lys)
c.3893G>A (p.Arg1298Lys)
c.3974G>A (p.Arg1325Lys)
n.1549G>A
c.3992G>A (p.Arg1331Lys)
n.4365G>A
n.1092G>A
c.3161G>A (p.Arg1054Lys)
c.2936G>A (p.Arg979Lys)
c.4031G>A (p.Arg1344Lys)
c.2004G>A
c.*1327G>A (n.*1327G>A)
n.4970G>A
n.3571G>A
c.4082G>A (p.Arg1361Lys)
c.4130G>A (p.Arg1377Lys)
c.4190G>A (p.Arg1397Lys)
c.3740G>A (p.Arg1247Lys)
c.2042G>A (p.Arg681Lys)
c.1859G>A (p.Arg620Lys)
c.4091G>A (p.Arg1364Lys)
c.4043G>A (p.Arg1348Lys)
c.3812G>A (p.Arg1271Lys)
c.3713G>A (p.Arg1238Lys)
c.2894G>A (p.Arg965Lys)
n.4445G>A
13g.51934929T>ACA388019512ATP7Bc.*1875A>T (n.*1875A>T)
c.*2969A>T (n.*2969A>T)
c.3604A>T (p.Arg1202Trp)
c.4225A>T (p.Arg1409Trp)
c.3892A>T (p.Arg1298Trp)
c.3973A>T (p.Arg1325Trp)
n.1548A>T
c.3991A>T (p.Arg1331Trp)
n.4364A>T
n.1091A>T
c.3160A>T (p.Arg1054Trp)
c.2935A>T (p.Arg979Trp)
c.4030A>T (p.Arg1344Trp)
c.2003A>T
c.*1326A>T (n.*1326A>T)
n.4969A>T
n.3570A>T
c.4081A>T (p.Arg1361Trp)
c.4129A>T (p.Arg1377Trp)
c.4189A>T (p.Arg1397Trp)
c.3739A>T (p.Arg1247Trp)
c.2041A>T (p.Arg681Trp)
c.1858A>T (p.Arg620Trp)
c.4090A>T (p.Arg1364Trp)
c.4042A>T (p.Arg1348Trp)
c.3811A>T (p.Arg1271Trp)
c.3712A>T (p.Arg1238Trp)
c.2893A>T (p.Arg965Trp)
n.4444A>T
13g.51934929T>CCA388019513ATP7Bc.*1875A>G (n.*1875A>G)
c.*2969A>G (n.*2969A>G)
c.3604A>G (p.Arg1202Gly)
c.4225A>G (p.Arg1409Gly)
c.3892A>G (p.Arg1298Gly)
c.3973A>G (p.Arg1325Gly)
n.1548A>G
c.3991A>G (p.Arg1331Gly)
n.4364A>G
n.1091A>G
c.3160A>G (p.Arg1054Gly)
c.2935A>G (p.Arg979Gly)
c.4030A>G (p.Arg1344Gly)
c.2003A>G
c.*1326A>G (n.*1326A>G)
n.4969A>G
n.3570A>G
c.4081A>G (p.Arg1361Gly)
c.4129A>G (p.Arg1377Gly)
c.4189A>G (p.Arg1397Gly)
c.3739A>G (p.Arg1247Gly)
c.2041A>G (p.Arg681Gly)
c.1858A>G (p.Arg620Gly)
c.4090A>G (p.Arg1364Gly)
c.4042A>G (p.Arg1348Gly)
c.3811A>G (p.Arg1271Gly)
c.3712A>G (p.Arg1238Gly)
c.2893A>G (p.Arg965Gly)
n.4444A>G
13g.51934929T>GCA6988453ATP7Bc.*1875A>C (n.*1875A>C)
c.*2969A>C (n.*2969A>C)
c.3604A>C (p.Arg1202=)
c.4225A>C (p.Arg1409=)
c.3892A>C (p.Arg1298=)
c.3973A>C (p.Arg1325=)
n.1548A>C
c.3991A>C (p.Arg1331=)
n.4364A>C
n.1091A>C
c.3160A>C (p.Arg1054=)
c.2935A>C (p.Arg979=)
c.4030A>C (p.Arg1344=)
c.2003A>C
c.*1326A>C (n.*1326A>C)
n.4969A>C
n.3570A>C
c.4081A>C (p.Arg1361=)
c.4129A>C (p.Arg1377=)
c.4189A>C (p.Arg1397=)
c.3739A>C (p.Arg1247=)
c.2041A>C (p.Arg681=)
c.1858A>C (p.Arg620=)
c.4090A>C (p.Arg1364=)
c.4042A>C (p.Arg1348=)
c.3811A>C (p.Arg1271=)
c.3712A>C (p.Arg1238=)
c.2893A>C (p.Arg965=)
n.4444A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934929T=CA2091550436ATP7Bc.*1875A= (n.*1875A=)
c.*2969A= (n.*2969A=)
c.3604A= (p.Arg1202=)
c.4225A= (p.Arg1409=)
c.3892A= (p.Arg1298=)
c.3973A= (p.Arg1325=)
n.1548A=
c.3991A= (p.Arg1331=)
n.4364A=
n.1091A=
c.3160A= (p.Arg1054=)
c.2935A= (p.Arg979=)
c.4030A= (p.Arg1344=)
c.2003A=
c.*1326A= (n.*1326A=)
n.4969A=
n.3570A=
c.4081A= (p.Arg1361=)
c.4129A= (p.Arg1377=)
c.4189A= (p.Arg1397=)
c.3739A= (p.Arg1247=)
c.2041A= (p.Arg681=)
c.1858A= (p.Arg620=)
c.4090A= (p.Arg1364=)
c.4042A= (p.Arg1348=)
c.3811A= (p.Arg1271=)
c.3712A= (p.Arg1238=)
c.2893A= (p.Arg965=)
n.4444A=
13g.51934930G>ACA484024184ATP7Bc.*1874C>T (n.*1874C>T)
c.*2968C>T (n.*2968C>T)
c.3603C>T (p.Asp1201=)
c.4224C>T (p.Asp1408=)
c.3891C>T (p.Asp1297=)
c.3972C>T (p.Asp1324=)
n.1547C>T
c.3990C>T (p.Asp1330=)
n.4363C>T
n.1090C>T
c.3159C>T (p.Asp1053=)
c.2934C>T (p.Asp978=)
c.4029C>T (p.Asp1343=)
c.2002C>T
c.*1325C>T (n.*1325C>T)
n.4968C>T
n.3569C>T
c.4080C>T (p.Asp1360=)
c.4128C>T (p.Asp1376=)
c.4188C>T (p.Asp1396=)
c.3738C>T (p.Asp1246=)
c.2040C>T (p.Asp680=)
c.1857C>T (p.Asp619=)
c.4089C>T (p.Asp1363=)
c.4041C>T (p.Asp1347=)
c.3810C>T (p.Asp1270=)
c.3711C>T (p.Asp1237=)
c.2892C>T (p.Asp964=)
n.4443C>T
 ClinVar
13g.51934930G>CCA388019516ATP7Bc.*1874C>G (n.*1874C>G)
c.*2968C>G (n.*2968C>G)
c.3603C>G (p.Asp1201Glu)
c.4224C>G (p.Asp1408Glu)
c.3891C>G (p.Asp1297Glu)
c.3972C>G (p.Asp1324Glu)
n.1547C>G
c.3990C>G (p.Asp1330Glu)
n.4363C>G
n.1090C>G
c.3159C>G (p.Asp1053Glu)
c.2934C>G (p.Asp978Glu)
c.4029C>G (p.Asp1343Glu)
c.2002C>G
c.*1325C>G (n.*1325C>G)
n.4968C>G
n.3569C>G
c.4080C>G (p.Asp1360Glu)
c.4128C>G (p.Asp1376Glu)
c.4188C>G (p.Asp1396Glu)
c.3738C>G (p.Asp1246Glu)
c.2040C>G (p.Asp680Glu)
c.1857C>G (p.Asp619Glu)
c.4089C>G (p.Asp1363Glu)
c.4041C>G (p.Asp1347Glu)
c.3810C>G (p.Asp1270Glu)
c.3711C>G (p.Asp1237Glu)
c.2892C>G (p.Asp964Glu)
n.4443C>G
13g.51934930G>TCA388019518ATP7Bc.*1874C>A (n.*1874C>A)
c.*2968C>A (n.*2968C>A)
c.3603C>A (p.Asp1201Glu)
c.4224C>A (p.Asp1408Glu)
c.3891C>A (p.Asp1297Glu)
c.3972C>A (p.Asp1324Glu)
n.1547C>A
c.3990C>A (p.Asp1330Glu)
n.4363C>A
n.1090C>A
c.3159C>A (p.Asp1053Glu)
c.2934C>A (p.Asp978Glu)
c.4029C>A (p.Asp1343Glu)
c.2002C>A
c.*1325C>A (n.*1325C>A)
n.4968C>A
n.3569C>A
c.4080C>A (p.Asp1360Glu)
c.4128C>A (p.Asp1376Glu)
c.4188C>A (p.Asp1396Glu)
c.3738C>A (p.Asp1246Glu)
c.2040C>A (p.Asp680Glu)
c.1857C>A (p.Asp619Glu)
c.4089C>A (p.Asp1363Glu)
c.4041C>A (p.Asp1347Glu)
c.3810C>A (p.Asp1270Glu)
c.3711C>A (p.Asp1237Glu)
c.2892C>A (p.Asp964Glu)
n.4443C>A
13g.51934931T>ACA388019528ATP7Bc.*1873A>T (n.*1873A>T)
c.*2967A>T (n.*2967A>T)
c.3602A>T (p.Asp1201Val)
c.4223A>T (p.Asp1408Val)
c.3890A>T (p.Asp1297Val)
c.3971A>T (p.Asp1324Val)
n.1546A>T
c.3989A>T (p.Asp1330Val)
n.4362A>T
n.1089A>T
c.3158A>T (p.Asp1053Val)
c.2933A>T (p.Asp978Val)
c.4028A>T (p.Asp1343Val)
c.2001A>T
c.*1324A>T (n.*1324A>T)
n.4967A>T
n.3568A>T
c.4079A>T (p.Asp1360Val)
c.4127A>T (p.Asp1376Val)
c.4187A>T (p.Asp1396Val)
c.3737A>T (p.Asp1246Val)
c.2039A>T (p.Asp680Val)
c.1856A>T (p.Asp619Val)
c.4088A>T (p.Asp1363Val)
c.4040A>T (p.Asp1347Val)
c.3809A>T (p.Asp1270Val)
c.3710A>T (p.Asp1237Val)
c.2891A>T (p.Asp964Val)
n.4442A>T
13g.51934931T>CCA388019524ATP7Bc.*1873A>G (n.*1873A>G)
c.*2967A>G (n.*2967A>G)
c.3602A>G (p.Asp1201Gly)
c.4223A>G (p.Asp1408Gly)
c.3890A>G (p.Asp1297Gly)
c.3971A>G (p.Asp1324Gly)
n.1546A>G
c.3989A>G (p.Asp1330Gly)
n.4362A>G
n.1089A>G
c.3158A>G (p.Asp1053Gly)
c.2933A>G (p.Asp978Gly)
c.4028A>G (p.Asp1343Gly)
c.2001A>G
c.*1324A>G (n.*1324A>G)
n.4967A>G
n.3568A>G
c.4079A>G (p.Asp1360Gly)
c.4127A>G (p.Asp1376Gly)
c.4187A>G (p.Asp1396Gly)
c.3737A>G (p.Asp1246Gly)
c.2039A>G (p.Asp680Gly)
c.1856A>G (p.Asp619Gly)
c.4088A>G (p.Asp1363Gly)
c.4040A>G (p.Asp1347Gly)
c.3809A>G (p.Asp1270Gly)
c.3710A>G (p.Asp1237Gly)
c.2891A>G (p.Asp964Gly)
n.4442A>G
13g.51934931T>GCA388019521ATP7Bc.*1873A>C (n.*1873A>C)
c.*2967A>C (n.*2967A>C)
c.3602A>C (p.Asp1201Ala)
c.4223A>C (p.Asp1408Ala)
c.3890A>C (p.Asp1297Ala)
c.3971A>C (p.Asp1324Ala)
n.1546A>C
c.3989A>C (p.Asp1330Ala)
n.4362A>C
n.1089A>C
c.3158A>C (p.Asp1053Ala)
c.2933A>C (p.Asp978Ala)
c.4028A>C (p.Asp1343Ala)
c.2001A>C
c.*1324A>C (n.*1324A>C)
n.4967A>C
n.3568A>C
c.4079A>C (p.Asp1360Ala)
c.4127A>C (p.Asp1376Ala)
c.4187A>C (p.Asp1396Ala)
c.3737A>C (p.Asp1246Ala)
c.2039A>C (p.Asp680Ala)
c.1856A>C (p.Asp619Ala)
c.4088A>C (p.Asp1363Ala)
c.4040A>C (p.Asp1347Ala)
c.3809A>C (p.Asp1270Ala)
c.3710A>C (p.Asp1237Ala)
c.2891A>C (p.Asp964Ala)
n.4442A>C
13g.51934932C>ACA388019532ATP7Bc.*1872G>T (n.*1872G>T)
c.*2966G>T (n.*2966G>T)
c.3601G>T (p.Asp1201Tyr)
c.4222G>T (p.Asp1408Tyr)
c.3889G>T (p.Asp1297Tyr)
c.3970G>T (p.Asp1324Tyr)
n.1545G>T
c.3988G>T (p.Asp1330Tyr)
n.4361G>T
n.1088G>T
c.3157G>T (p.Asp1053Tyr)
c.2932G>T (p.Asp978Tyr)
c.4027G>T (p.Asp1343Tyr)
c.2000G>T
c.*1323G>T (n.*1323G>T)
n.4966G>T
n.3567G>T
c.4078G>T (p.Asp1360Tyr)
c.4126G>T (p.Asp1376Tyr)
c.4186G>T (p.Asp1396Tyr)
c.3736G>T (p.Asp1246Tyr)
c.2038G>T (p.Asp680Tyr)
c.1855G>T (p.Asp619Tyr)
c.4087G>T (p.Asp1363Tyr)
c.4039G>T (p.Asp1347Tyr)
c.3808G>T (p.Asp1270Tyr)
c.3709G>T (p.Asp1237Tyr)
c.2890G>T (p.Asp964Tyr)
n.4441G>T
13g.51934932C=CA2091550439ATP7Bc.*1872G= (n.*1872G=)
c.*2966G= (n.*2966G=)
c.3601G= (p.Asp1201=)
c.4222G= (p.Asp1408=)
c.3889G= (p.Asp1297=)
c.3970G= (p.Asp1324=)
n.1545G=
c.3988G= (p.Asp1330=)
n.4361G=
n.1088G=
c.3157G= (p.Asp1053=)
c.2932G= (p.Asp978=)
c.4027G= (p.Asp1343=)
c.2000G=
c.*1323G= (n.*1323G=)
n.4966G=
n.3567G=
c.4078G= (p.Asp1360=)
c.4126G= (p.Asp1376=)
c.4186G= (p.Asp1396=)
c.3736G= (p.Asp1246=)
c.2038G= (p.Asp680=)
c.1855G= (p.Asp619=)
c.4087G= (p.Asp1363=)
c.4039G= (p.Asp1347=)
c.3808G= (p.Asp1270=)
c.3709G= (p.Asp1237=)
c.2890G= (p.Asp964=)
n.4441G=
13g.51934932C>GCA388019535ATP7Bc.*1872G>C (n.*1872G>C)
c.*2966G>C (n.*2966G>C)
c.3601G>C (p.Asp1201His)
c.4222G>C (p.Asp1408His)
c.3889G>C (p.Asp1297His)
c.3970G>C (p.Asp1324His)
n.1545G>C
c.3988G>C (p.Asp1330His)
n.4361G>C
n.1088G>C
c.3157G>C (p.Asp1053His)
c.2932G>C (p.Asp978His)
c.4027G>C (p.Asp1343His)
c.2000G>C
c.*1323G>C (n.*1323G>C)
n.4966G>C
n.3567G>C
c.4078G>C (p.Asp1360His)
c.4126G>C (p.Asp1376His)
c.4186G>C (p.Asp1396His)
c.3736G>C (p.Asp1246His)
c.2038G>C (p.Asp680His)
c.1855G>C (p.Asp619His)
c.4087G>C (p.Asp1363His)
c.4039G>C (p.Asp1347His)
c.3808G>C (p.Asp1270His)
c.3709G>C (p.Asp1237His)
c.2890G>C (p.Asp964His)
n.4441G>C
13g.51934932C>TCA388019536ATP7Bc.*1872G>A (n.*1872G>A)
c.*2966G>A (n.*2966G>A)
c.3601G>A (p.Asp1201Asn)
c.4222G>A (p.Asp1408Asn)
c.3889G>A (p.Asp1297Asn)
c.3970G>A (p.Asp1324Asn)
n.1545G>A
c.3988G>A (p.Asp1330Asn)
n.4361G>A
n.1088G>A
c.3157G>A (p.Asp1053Asn)
c.2932G>A (p.Asp978Asn)
c.4027G>A (p.Asp1343Asn)
c.2000G>A
c.*1323G>A (n.*1323G>A)
n.4966G>A
n.3567G>A
c.4078G>A (p.Asp1360Asn)
c.4126G>A (p.Asp1376Asn)
c.4186G>A (p.Asp1396Asn)
c.3736G>A (p.Asp1246Asn)
c.2038G>A (p.Asp680Asn)
c.1855G>A (p.Asp619Asn)
c.4087G>A (p.Asp1363Asn)
c.4039G>A (p.Asp1347Asn)
c.3808G>A (p.Asp1270Asn)
c.3709G>A (p.Asp1237Asn)
c.2890G>A (p.Asp964Asn)
n.4441G>A
 dbSNP gnomAD v3 gnomAD v4
13g.51934933A=CA2091550441ATP7Bc.*1871T= (n.*1871T=)
c.*2965T= (n.*2965T=)
c.3600T= (p.Asp1200=)
c.4221T= (p.Asp1407=)
c.3888T= (p.Asp1296=)
c.3969T= (p.Asp1323=)
n.1544T=
c.3987T= (p.Asp1329=)
n.4360T=
n.1087T=
c.3156T= (p.Asp1052=)
c.2931T= (p.Asp977=)
c.4026T= (p.Asp1342=)
c.1999T=
c.*1322T= (n.*1322T=)
n.4965T=
n.3566T=
c.4077T= (p.Asp1359=)
c.4125T= (p.Asp1375=)
c.4185T= (p.Asp1395=)
c.3735T= (p.Asp1245=)
c.2037T= (p.Asp679=)
c.1854T= (p.Asp618=)
c.4086T= (p.Asp1362=)
c.4038T= (p.Asp1346=)
c.3807T= (p.Asp1269=)
c.3708T= (p.Asp1236=)
c.2889T= (p.Asp963=)
n.4440T=
13g.51934933A>CCA388019538ATP7Bc.*1871T>G (n.*1871T>G)
c.*2965T>G (n.*2965T>G)
c.3600T>G (p.Asp1200Glu)
c.4221T>G (p.Asp1407Glu)
c.3888T>G (p.Asp1296Glu)
c.3969T>G (p.Asp1323Glu)
n.1544T>G
c.3987T>G (p.Asp1329Glu)
n.4360T>G
n.1087T>G
c.3156T>G (p.Asp1052Glu)
c.2931T>G (p.Asp977Glu)
c.4026T>G (p.Asp1342Glu)
c.1999T>G
c.*1322T>G (n.*1322T>G)
n.4965T>G
n.3566T>G
c.4077T>G (p.Asp1359Glu)
c.4125T>G (p.Asp1375Glu)
c.4185T>G (p.Asp1395Glu)
c.3735T>G (p.Asp1245Glu)
c.2037T>G (p.Asp679Glu)
c.1854T>G (p.Asp618Glu)
c.4086T>G (p.Asp1362Glu)
c.4038T>G (p.Asp1346Glu)
c.3807T>G (p.Asp1269Glu)
c.3708T>G (p.Asp1236Glu)
c.2889T>G (p.Asp963Glu)
n.4440T>G
13g.51934933A>GCA484024185ATP7Bc.*1871T>C (n.*1871T>C)
c.*2965T>C (n.*2965T>C)
c.3600T>C (p.Asp1200=)
c.4221T>C (p.Asp1407=)
c.3888T>C (p.Asp1296=)
c.3969T>C (p.Asp1323=)
n.1544T>C
c.3987T>C (p.Asp1329=)
n.4360T>C
n.1087T>C
c.3156T>C (p.Asp1052=)
c.2931T>C (p.Asp977=)
c.4026T>C (p.Asp1342=)
c.1999T>C
c.*1322T>C (n.*1322T>C)
n.4965T>C
n.3566T>C
c.4077T>C (p.Asp1359=)
c.4125T>C (p.Asp1375=)
c.4185T>C (p.Asp1395=)
c.3735T>C (p.Asp1245=)
c.2037T>C (p.Asp679=)
c.1854T>C (p.Asp618=)
c.4086T>C (p.Asp1362=)
c.4038T>C (p.Asp1346=)
c.3807T>C (p.Asp1269=)
c.3708T>C (p.Asp1236=)
c.2889T>C (p.Asp963=)
n.4440T>C
13g.51934933A>TCA171328ATP7Bc.*1871T>A (n.*1871T>A)
c.*2965T>A (n.*2965T>A)
c.3600T>A (p.Asp1200Glu)
c.4221T>A (p.Asp1407Glu)
c.3888T>A (p.Asp1296Glu)
c.3969T>A (p.Asp1323Glu)
n.1544T>A
c.3987T>A (p.Asp1329Glu)
n.4360T>A
n.1087T>A
c.3156T>A (p.Asp1052Glu)
c.2931T>A (p.Asp977Glu)
c.4026T>A (p.Asp1342Glu)
c.1999T>A
c.*1322T>A (n.*1322T>A)
n.4965T>A
n.3566T>A
c.4077T>A (p.Asp1359Glu)
c.4125T>A (p.Asp1375Glu)
c.4185T>A (p.Asp1395Glu)
c.3735T>A (p.Asp1245Glu)
c.2037T>A (p.Asp679Glu)
c.1854T>A (p.Asp618Glu)
c.4086T>A (p.Asp1362Glu)
c.4038T>A (p.Asp1346Glu)
c.3807T>A (p.Asp1269Glu)
c.3708T>A (p.Asp1236Glu)
c.2889T>A (p.Asp963Glu)
n.4440T>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51934934T>ACA388019543ATP7Bc.*1870A>T (n.*1870A>T)
c.*2964A>T (n.*2964A>T)
c.3599A>T (p.Asp1200Val)
c.4220A>T (p.Asp1407Val)
c.3887A>T (p.Asp1296Val)
c.3968A>T (p.Asp1323Val)
n.1543A>T
c.3986A>T (p.Asp1329Val)
n.4359A>T
n.1086A>T
c.3155A>T (p.Asp1052Val)
c.2930A>T (p.Asp977Val)
c.4025A>T (p.Asp1342Val)
c.1998A>T
c.*1321A>T (n.*1321A>T)
n.4964A>T
n.3565A>T
c.4076A>T (p.Asp1359Val)
c.4124A>T (p.Asp1375Val)
c.4184A>T (p.Asp1395Val)
c.3734A>T (p.Asp1245Val)
c.2036A>T (p.Asp679Val)
c.1853A>T (p.Asp618Val)
c.4085A>T (p.Asp1362Val)
c.4037A>T (p.Asp1346Val)
c.3806A>T (p.Asp1269Val)
c.3707A>T (p.Asp1236Val)
c.2888A>T (p.Asp963Val)
n.4439A>T
13g.51934934T>CCA388019542ATP7Bc.*1870A>G (n.*1870A>G)
c.*2964A>G (n.*2964A>G)
c.3599A>G (p.Asp1200Gly)
c.4220A>G (p.Asp1407Gly)
c.3887A>G (p.Asp1296Gly)
c.3968A>G (p.Asp1323Gly)
n.1543A>G
c.3986A>G (p.Asp1329Gly)
n.4359A>G
n.1086A>G
c.3155A>G (p.Asp1052Gly)
c.2930A>G (p.Asp977Gly)
c.4025A>G (p.Asp1342Gly)
c.1998A>G
c.*1321A>G (n.*1321A>G)
n.4964A>G
n.3565A>G
c.4076A>G (p.Asp1359Gly)
c.4124A>G (p.Asp1375Gly)
c.4184A>G (p.Asp1395Gly)
c.3734A>G (p.Asp1245Gly)
c.2036A>G (p.Asp679Gly)
c.1853A>G (p.Asp618Gly)
c.4085A>G (p.Asp1362Gly)
c.4037A>G (p.Asp1346Gly)
c.3806A>G (p.Asp1269Gly)
c.3707A>G (p.Asp1236Gly)
c.2888A>G (p.Asp963Gly)
n.4439A>G
 dbSNP gnomAD v4
13g.51934934T>GCA388019540ATP7Bc.*1870A>C (n.*1870A>C)
c.*2964A>C (n.*2964A>C)
c.3599A>C (p.Asp1200Ala)
c.4220A>C (p.Asp1407Ala)
c.3887A>C (p.Asp1296Ala)
c.3968A>C (p.Asp1323Ala)
n.1543A>C
c.3986A>C (p.Asp1329Ala)
n.4359A>C
n.1086A>C
c.3155A>C (p.Asp1052Ala)
c.2930A>C (p.Asp977Ala)
c.4025A>C (p.Asp1342Ala)
c.1998A>C
c.*1321A>C (n.*1321A>C)
n.4964A>C
n.3565A>C
c.4076A>C (p.Asp1359Ala)
c.4124A>C (p.Asp1375Ala)
c.4184A>C (p.Asp1395Ala)
c.3734A>C (p.Asp1245Ala)
c.2036A>C (p.Asp679Ala)
c.1853A>C (p.Asp618Ala)
c.4085A>C (p.Asp1362Ala)
c.4037A>C (p.Asp1346Ala)
c.3806A>C (p.Asp1269Ala)
c.3707A>C (p.Asp1236Ala)
c.2888A>C (p.Asp963Ala)
n.4439A>C
13g.51934934T=CA2091550445ATP7Bc.*1870A= (n.*1870A=)
c.*2964A= (n.*2964A=)
c.3599A= (p.Asp1200=)
c.4220A= (p.Asp1407=)
c.3887A= (p.Asp1296=)
c.3968A= (p.Asp1323=)
n.1543A=
c.3986A= (p.Asp1329=)
n.4359A=
n.1086A=
c.3155A= (p.Asp1052=)
c.2930A= (p.Asp977=)
c.4025A= (p.Asp1342=)
c.1998A=
c.*1321A= (n.*1321A=)
n.4964A=
n.3565A=
c.4076A= (p.Asp1359=)
c.4124A= (p.Asp1375=)
c.4184A= (p.Asp1395=)
c.3734A= (p.Asp1245=)
c.2036A= (p.Asp679=)
c.1853A= (p.Asp618=)
c.4085A= (p.Asp1362=)
c.4037A= (p.Asp1346=)
c.3806A= (p.Asp1269=)
c.3707A= (p.Asp1236=)
c.2888A= (p.Asp963=)
n.4439A=
13g.51934935C>ACA388019545ATP7Bc.*1869G>T (n.*1869G>T)
c.*2963G>T (n.*2963G>T)
c.3598G>T (p.Asp1200Tyr)
c.4219G>T (p.Asp1407Tyr)
c.3886G>T (p.Asp1296Tyr)
c.3967G>T (p.Asp1323Tyr)
n.1542G>T
c.3985G>T (p.Asp1329Tyr)
n.4358G>T
n.1085G>T
c.3154G>T (p.Asp1052Tyr)
c.2929G>T (p.Asp977Tyr)
c.4024G>T (p.Asp1342Tyr)
c.1997G>T
c.*1320G>T (n.*1320G>T)
n.4963G>T
n.3564G>T
c.4075G>T (p.Asp1359Tyr)
c.4123G>T (p.Asp1375Tyr)
c.4183G>T (p.Asp1395Tyr)
c.3733G>T (p.Asp1245Tyr)
c.2035G>T (p.Asp679Tyr)
c.1852G>T (p.Asp618Tyr)
c.4084G>T (p.Asp1362Tyr)
c.4036G>T (p.Asp1346Tyr)
c.3805G>T (p.Asp1269Tyr)
c.3706G>T (p.Asp1236Tyr)
c.2887G>T (p.Asp963Tyr)
n.4438G>T
 gnomAD v4
13g.51934935C>GCA388019546ATP7Bc.*1869G>C (n.*1869G>C)
c.*2963G>C (n.*2963G>C)
c.3598G>C (p.Asp1200His)
c.4219G>C (p.Asp1407His)
c.3886G>C (p.Asp1296His)
c.3967G>C (p.Asp1323His)
n.1542G>C
c.3985G>C (p.Asp1329His)
n.4358G>C
n.1085G>C
c.3154G>C (p.Asp1052His)
c.2929G>C (p.Asp977His)
c.4024G>C (p.Asp1342His)
c.1997G>C
c.*1320G>C (n.*1320G>C)
n.4963G>C
n.3564G>C
c.4075G>C (p.Asp1359His)
c.4123G>C (p.Asp1375His)
c.4183G>C (p.Asp1395His)
c.3733G>C (p.Asp1245His)
c.2035G>C (p.Asp679His)
c.1852G>C (p.Asp618His)
c.4084G>C (p.Asp1362His)
c.4036G>C (p.Asp1346His)
c.3805G>C (p.Asp1269His)
c.3706G>C (p.Asp1236His)
c.2887G>C (p.Asp963His)
n.4438G>C
13g.51934935C>TCA388019547ATP7Bc.*1869G>A (n.*1869G>A)
c.*2963G>A (n.*2963G>A)
c.3598G>A (p.Asp1200Asn)
c.4219G>A (p.Asp1407Asn)
c.3886G>A (p.Asp1296Asn)
c.3967G>A (p.Asp1323Asn)
n.1542G>A
c.3985G>A (p.Asp1329Asn)
n.4358G>A
n.1085G>A
c.3154G>A (p.Asp1052Asn)
c.2929G>A (p.Asp977Asn)
c.4024G>A (p.Asp1342Asn)
c.1997G>A
c.*1320G>A (n.*1320G>A)
n.4963G>A
n.3564G>A
c.4075G>A (p.Asp1359Asn)
c.4123G>A (p.Asp1375Asn)
c.4183G>A (p.Asp1395Asn)
c.3733G>A (p.Asp1245Asn)
c.2035G>A (p.Asp679Asn)
c.1852G>A (p.Asp618Asn)
c.4084G>A (p.Asp1362Asn)
c.4036G>A (p.Asp1346Asn)
c.3805G>A (p.Asp1269Asn)
c.3706G>A (p.Asp1236Asn)
c.2887G>A (p.Asp963Asn)
n.4438G>A
13g.51934936C>ACA388019548ATP7Bc.*1868G>T (n.*1868G>T)
c.*2962G>T (n.*2962G>T)
c.3597G>T (p.Met1199Ile)
c.4218G>T (p.Met1406Ile)
c.3885G>T (p.Met1295Ile)
c.3966G>T (p.Met1322Ile)
n.1541G>T
c.3984G>T (p.Met1328Ile)
n.4357G>T
n.1084G>T
c.3153G>T (p.Met1051Ile)
c.2928G>T (p.Met976Ile)
c.4023G>T (p.Met1341Ile)
c.1996G>T
c.*1319G>T (n.*1319G>T)
n.4962G>T
n.3563G>T
c.4074G>T (p.Met1358Ile)
c.4122G>T (p.Met1374Ile)
c.4182G>T (p.Met1394Ile)
c.3732G>T (p.Met1244Ile)
c.2034G>T (p.Met678Ile)
c.1851G>T (p.Met617Ile)
c.4083G>T (p.Met1361Ile)
c.4035G>T (p.Met1345Ile)
c.3804G>T (p.Met1268Ile)
c.3705G>T (p.Met1235Ile)
c.2886G>T (p.Met962Ile)
n.4437G>T
13g.51934936C=CA2091550447ATP7Bc.*1868G= (n.*1868G=)
c.*2962G= (n.*2962G=)
c.3597G= (p.Met1199=)
c.4218G= (p.Met1406=)
c.3885G= (p.Met1295=)
c.3966G= (p.Met1322=)
n.1541G=
c.3984G= (p.Met1328=)
n.4357G=
n.1084G=
c.3153G= (p.Met1051=)
c.2928G= (p.Met976=)
c.4023G= (p.Met1341=)
c.1996G=
c.*1319G= (n.*1319G=)
n.4962G=
n.3563G=
c.4074G= (p.Met1358=)
c.4122G= (p.Met1374=)
c.4182G= (p.Met1394=)
c.3732G= (p.Met1244=)
c.2034G= (p.Met678=)
c.1851G= (p.Met617=)
c.4083G= (p.Met1361=)
c.4035G= (p.Met1345=)
c.3804G= (p.Met1268=)
c.3705G= (p.Met1235=)
c.2886G= (p.Met962=)
n.4437G=
13g.51934936C>GCA388019550ATP7Bc.*1868G>C (n.*1868G>C)
c.*2962G>C (n.*2962G>C)
c.3597G>C (p.Met1199Ile)
c.4218G>C (p.Met1406Ile)
c.3885G>C (p.Met1295Ile)
c.3966G>C (p.Met1322Ile)
n.1541G>C
c.3984G>C (p.Met1328Ile)
n.4357G>C
n.1084G>C
c.3153G>C (p.Met1051Ile)
c.2928G>C (p.Met976Ile)
c.4023G>C (p.Met1341Ile)
c.1996G>C
c.*1319G>C (n.*1319G>C)
n.4962G>C
n.3563G>C
c.4074G>C (p.Met1358Ile)
c.4122G>C (p.Met1374Ile)
c.4182G>C (p.Met1394Ile)
c.3732G>C (p.Met1244Ile)
c.2034G>C (p.Met678Ile)
c.1851G>C (p.Met617Ile)
c.4083G>C (p.Met1361Ile)
c.4035G>C (p.Met1345Ile)
c.3804G>C (p.Met1268Ile)
c.3705G>C (p.Met1235Ile)
c.2886G>C (p.Met962Ile)
n.4437G>C
13g.51934936C>TCA388019552ATP7Bc.*1868G>A (n.*1868G>A)
c.*2962G>A (n.*2962G>A)
c.3597G>A (p.Met1199Ile)
c.4218G>A (p.Met1406Ile)
c.3885G>A (p.Met1295Ile)
c.3966G>A (p.Met1322Ile)
n.1541G>A
c.3984G>A (p.Met1328Ile)
n.4357G>A
n.1084G>A
c.3153G>A (p.Met1051Ile)
c.2928G>A (p.Met976Ile)
c.4023G>A (p.Met1341Ile)
c.1996G>A
c.*1319G>A (n.*1319G>A)
n.4962G>A
n.3563G>A
c.4074G>A (p.Met1358Ile)
c.4122G>A (p.Met1374Ile)
c.4182G>A (p.Met1394Ile)
c.3732G>A (p.Met1244Ile)
c.2034G>A (p.Met678Ile)
c.1851G>A (p.Met617Ile)
c.4083G>A (p.Met1361Ile)
c.4035G>A (p.Met1345Ile)
c.3804G>A (p.Met1268Ile)
c.3705G>A (p.Met1235Ile)
c.2886G>A (p.Met962Ile)
n.4437G>A
 dbSNP gnomAD v2 gnomAD v4
13g.51934937A>CCA388019554ATP7Bc.*1867T>G (n.*1867T>G)
c.*2961T>G (n.*2961T>G)
c.3596T>G (p.Met1199Arg)
c.4217T>G (p.Met1406Arg)
c.3884T>G (p.Met1295Arg)
c.3965T>G (p.Met1322Arg)
n.1540T>G
c.3983T>G (p.Met1328Arg)
n.4356T>G
n.1083T>G
c.3152T>G (p.Met1051Arg)
c.2927T>G (p.Met976Arg)
c.4022T>G (p.Met1341Arg)
c.1995T>G
c.*1318T>G (n.*1318T>G)
n.4961T>G
n.3562T>G
c.4073T>G (p.Met1358Arg)
c.4121T>G (p.Met1374Arg)
c.4181T>G (p.Met1394Arg)
c.3731T>G (p.Met1244Arg)
c.2033T>G (p.Met678Arg)
c.1850T>G (p.Met617Arg)
c.4082T>G (p.Met1361Arg)
c.4034T>G (p.Met1345Arg)
c.3803T>G (p.Met1268Arg)
c.3704T>G (p.Met1235Arg)
c.2885T>G (p.Met962Arg)
n.4436T>G
13g.51934937A>GCA388019556ATP7Bc.*1867T>C (n.*1867T>C)
c.*2961T>C (n.*2961T>C)
c.3596T>C (p.Met1199Thr)
c.4217T>C (p.Met1406Thr)
c.3884T>C (p.Met1295Thr)
c.3965T>C (p.Met1322Thr)
n.1540T>C
c.3983T>C (p.Met1328Thr)
n.4356T>C
n.1083T>C
c.3152T>C (p.Met1051Thr)
c.2927T>C (p.Met976Thr)
c.4022T>C (p.Met1341Thr)
c.1995T>C
c.*1318T>C (n.*1318T>C)
n.4961T>C
n.3562T>C
c.4073T>C (p.Met1358Thr)
c.4121T>C (p.Met1374Thr)
c.4181T>C (p.Met1394Thr)
c.3731T>C (p.Met1244Thr)
c.2033T>C (p.Met678Thr)
c.1850T>C (p.Met617Thr)
c.4082T>C (p.Met1361Thr)
c.4034T>C (p.Met1345Thr)
c.3803T>C (p.Met1268Thr)
c.3704T>C (p.Met1235Thr)
c.2885T>C (p.Met962Thr)
n.4436T>C
13g.51934937A>TCA388019555ATP7Bc.*1867T>A (n.*1867T>A)
c.*2961T>A (n.*2961T>A)
c.3596T>A (p.Met1199Lys)
c.4217T>A (p.Met1406Lys)
c.3884T>A (p.Met1295Lys)
c.3965T>A (p.Met1322Lys)
n.1540T>A
c.3983T>A (p.Met1328Lys)
n.4356T>A
n.1083T>A
c.3152T>A (p.Met1051Lys)
c.2927T>A (p.Met976Lys)
c.4022T>A (p.Met1341Lys)
c.1995T>A
c.*1318T>A (n.*1318T>A)
n.4961T>A
n.3562T>A
c.4073T>A (p.Met1358Lys)
c.4121T>A (p.Met1374Lys)
c.4181T>A (p.Met1394Lys)
c.3731T>A (p.Met1244Lys)
c.2033T>A (p.Met678Lys)
c.1850T>A (p.Met617Lys)
c.4082T>A (p.Met1361Lys)
c.4034T>A (p.Met1345Lys)
c.3803T>A (p.Met1268Lys)
c.3704T>A (p.Met1235Lys)
c.2885T>A (p.Met962Lys)
n.4436T>A
13g.51934938T>ACA388019557ATP7Bc.*1866A>T (n.*1866A>T)
c.*2960A>T (n.*2960A>T)
c.3595A>T (p.Met1199Leu)
c.4216A>T (p.Met1406Leu)
c.3883A>T (p.Met1295Leu)
c.3964A>T (p.Met1322Leu)
n.1539A>T
c.3982A>T (p.Met1328Leu)
n.4355A>T
n.1082A>T
c.3151A>T (p.Met1051Leu)
c.2926A>T (p.Met976Leu)
c.4021A>T (p.Met1341Leu)
c.1994A>T
c.*1317A>T (n.*1317A>T)
n.4960A>T
n.3561A>T
c.4072A>T (p.Met1358Leu)
c.4120A>T (p.Met1374Leu)
c.4180A>T (p.Met1394Leu)
c.3730A>T (p.Met1244Leu)
c.2032A>T (p.Met678Leu)
c.1849A>T (p.Met617Leu)
c.4081A>T (p.Met1361Leu)
c.4033A>T (p.Met1345Leu)
c.3802A>T (p.Met1268Leu)
c.3703A>T (p.Met1235Leu)
c.2884A>T (p.Met962Leu)
n.4435A>T
13g.51934938T>CCA388019558ATP7Bc.*1866A>G (n.*1866A>G)
c.*2960A>G (n.*2960A>G)
c.3595A>G (p.Met1199Val)
c.4216A>G (p.Met1406Val)
c.3883A>G (p.Met1295Val)
c.3964A>G (p.Met1322Val)
n.1539A>G
c.3982A>G (p.Met1328Val)
n.4355A>G
n.1082A>G
c.3151A>G (p.Met1051Val)
c.2926A>G (p.Met976Val)
c.4021A>G (p.Met1341Val)
c.1994A>G
c.*1317A>G (n.*1317A>G)
n.4960A>G
n.3561A>G
c.4072A>G (p.Met1358Val)
c.4120A>G (p.Met1374Val)
c.4180A>G (p.Met1394Val)
c.3730A>G (p.Met1244Val)
c.2032A>G (p.Met678Val)
c.1849A>G (p.Met617Val)
c.4081A>G (p.Met1361Val)
c.4033A>G (p.Met1345Val)
c.3802A>G (p.Met1268Val)
c.3703A>G (p.Met1235Val)
c.2884A>G (p.Met962Val)
n.4435A>G
13g.51934938T>GCA388019559ATP7Bc.*1866A>C (n.*1866A>C)
c.*2960A>C (n.*2960A>C)
c.3595A>C (p.Met1199Leu)
c.4216A>C (p.Met1406Leu)
c.3883A>C (p.Met1295Leu)
c.3964A>C (p.Met1322Leu)
n.1539A>C
c.3982A>C (p.Met1328Leu)
n.4355A>C
n.1082A>C
c.3151A>C (p.Met1051Leu)
c.2926A>C (p.Met976Leu)
c.4021A>C (p.Met1341Leu)
c.1994A>C
c.*1317A>C (n.*1317A>C)
n.4960A>C
n.3561A>C
c.4072A>C (p.Met1358Leu)
c.4120A>C (p.Met1374Leu)
c.4180A>C (p.Met1394Leu)
c.3730A>C (p.Met1244Leu)
c.2032A>C (p.Met678Leu)
c.1849A>C (p.Met617Leu)
c.4081A>C (p.Met1361Leu)
c.4033A>C (p.Met1345Leu)
c.3802A>C (p.Met1268Leu)
c.3703A>C (p.Met1235Leu)
c.2884A>C (p.Met962Leu)
n.4435A>C
13g.51934939G>ACA6988454ATP7Bc.*1865C>T (n.*1865C>T)
c.*2959C>T (n.*2959C>T)
c.3594C>T (p.Gly1198=)
c.4215C>T (p.Gly1405=)
c.3882C>T (p.Gly1294=)
c.3963C>T (p.Gly1321=)
n.1538C>T
c.3981C>T (p.Gly1327=)
n.4354C>T
n.1081C>T
c.3150C>T (p.Gly1050=)
c.2925C>T (p.Gly975=)
c.4020C>T (p.Gly1340=)
c.1993C>T
c.*1316C>T (n.*1316C>T)
n.4959C>T
n.3560C>T
c.4071C>T (p.Gly1357=)
c.4119C>T (p.Gly1373=)
c.4179C>T (p.Gly1393=)
c.3729C>T (p.Gly1243=)
c.2031C>T (p.Gly677=)
c.1848C>T (p.Gly616=)
c.4080C>T (p.Gly1360=)
c.4032C>T (p.Gly1344=)
c.3801C>T (p.Gly1267=)
c.3702C>T (p.Gly1234=)
c.2883C>T (p.Gly961=)
n.4434C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934939G>CCA484024186ATP7Bc.*1865C>G (n.*1865C>G)
c.*2959C>G (n.*2959C>G)
c.3594C>G (p.Gly1198=)
c.4215C>G (p.Gly1405=)
c.3882C>G (p.Gly1294=)
c.3963C>G (p.Gly1321=)
n.1538C>G
c.3981C>G (p.Gly1327=)
n.4354C>G
n.1081C>G
c.3150C>G (p.Gly1050=)
c.2925C>G (p.Gly975=)
c.4020C>G (p.Gly1340=)
c.1993C>G
c.*1316C>G (n.*1316C>G)
n.4959C>G
n.3560C>G
c.4071C>G (p.Gly1357=)
c.4119C>G (p.Gly1373=)
c.4179C>G (p.Gly1393=)
c.3729C>G (p.Gly1243=)
c.2031C>G (p.Gly677=)
c.1848C>G (p.Gly616=)
c.4080C>G (p.Gly1360=)
c.4032C>G (p.Gly1344=)
c.3801C>G (p.Gly1267=)
c.3702C>G (p.Gly1234=)
c.2883C>G (p.Gly961=)
n.4434C>G
13g.51934939G=CA2091550451ATP7Bc.*1865C= (n.*1865C=)
c.*2959C= (n.*2959C=)
c.3594C= (p.Gly1198=)
c.4215C= (p.Gly1405=)
c.3882C= (p.Gly1294=)
c.3963C= (p.Gly1321=)
n.1538C=
c.3981C= (p.Gly1327=)
n.4354C=
n.1081C=
c.3150C= (p.Gly1050=)
c.2925C= (p.Gly975=)
c.4020C= (p.Gly1340=)
c.1993C=
c.*1316C= (n.*1316C=)
n.4959C=
n.3560C=
c.4071C= (p.Gly1357=)
c.4119C= (p.Gly1373=)
c.4179C= (p.Gly1393=)
c.3729C= (p.Gly1243=)
c.2031C= (p.Gly677=)
c.1848C= (p.Gly616=)
c.4080C= (p.Gly1360=)
c.4032C= (p.Gly1344=)
c.3801C= (p.Gly1267=)
c.3702C= (p.Gly1234=)
c.2883C= (p.Gly961=)
n.4434C=
13g.51934939G>TCA484024187ATP7Bc.*1865C>A (n.*1865C>A)
c.*2959C>A (n.*2959C>A)
c.3594C>A (p.Gly1198=)
c.4215C>A (p.Gly1405=)
c.3882C>A (p.Gly1294=)
c.3963C>A (p.Gly1321=)
n.1538C>A
c.3981C>A (p.Gly1327=)
n.4354C>A
n.1081C>A
c.3150C>A (p.Gly1050=)
c.2925C>A (p.Gly975=)
c.4020C>A (p.Gly1340=)
c.1993C>A
c.*1316C>A (n.*1316C>A)
n.4959C>A
n.3560C>A
c.4071C>A (p.Gly1357=)
c.4119C>A (p.Gly1373=)
c.4179C>A (p.Gly1393=)
c.3729C>A (p.Gly1243=)
c.2031C>A (p.Gly677=)
c.1848C>A (p.Gly616=)
c.4080C>A (p.Gly1360=)
c.4032C>A (p.Gly1344=)
c.3801C>A (p.Gly1267=)
c.3702C>A (p.Gly1234=)
c.2883C>A (p.Gly961=)
n.4434C>A
13g.51934940C>ACA388019562ATP7Bc.*1864G>T (n.*1864G>T)
c.*2958G>T (n.*2958G>T)
c.3593G>T (p.Gly1198Val)
c.4214G>T (p.Gly1405Val)
c.3881G>T (p.Gly1294Val)
c.3962G>T (p.Gly1321Val)
n.1537G>T
c.3980G>T (p.Gly1327Val)
n.4353G>T
n.1080G>T
c.3149G>T (p.Gly1050Val)
c.2924G>T (p.Gly975Val)
c.4019G>T (p.Gly1340Val)
c.1992G>T
c.*1315G>T (n.*1315G>T)
n.4958G>T
n.3559G>T
c.4070G>T (p.Gly1357Val)
c.4118G>T (p.Gly1373Val)
c.4178G>T (p.Gly1393Val)
c.3728G>T (p.Gly1243Val)
c.2030G>T (p.Gly677Val)
c.1847G>T (p.Gly616Val)
c.4079G>T (p.Gly1360Val)
c.4031G>T (p.Gly1344Val)
c.3800G>T (p.Gly1267Val)
c.3701G>T (p.Gly1234Val)
c.2882G>T (p.Gly961Val)
n.4433G>T
13g.51934940C>GCA388019563ATP7Bc.*1864G>C (n.*1864G>C)
c.*2958G>C (n.*2958G>C)
c.3593G>C (p.Gly1198Ala)
c.4214G>C (p.Gly1405Ala)
c.3881G>C (p.Gly1294Ala)
c.3962G>C (p.Gly1321Ala)
n.1537G>C
c.3980G>C (p.Gly1327Ala)
n.4353G>C
n.1080G>C
c.3149G>C (p.Gly1050Ala)
c.2924G>C (p.Gly975Ala)
c.4019G>C (p.Gly1340Ala)
c.1992G>C
c.*1315G>C (n.*1315G>C)
n.4958G>C
n.3559G>C
c.4070G>C (p.Gly1357Ala)
c.4118G>C (p.Gly1373Ala)
c.4178G>C (p.Gly1393Ala)
c.3728G>C (p.Gly1243Ala)
c.2030G>C (p.Gly677Ala)
c.1847G>C (p.Gly616Ala)
c.4079G>C (p.Gly1360Ala)
c.4031G>C (p.Gly1344Ala)
c.3800G>C (p.Gly1267Ala)
c.3701G>C (p.Gly1234Ala)
c.2882G>C (p.Gly961Ala)
n.4433G>C
 gnomAD v4
13g.51934940C>TCA388019564ATP7Bc.*1864G>A (n.*1864G>A)
c.*2958G>A (n.*2958G>A)
c.3593G>A (p.Gly1198Asp)
c.4214G>A (p.Gly1405Asp)
c.3881G>A (p.Gly1294Asp)
c.3962G>A (p.Gly1321Asp)
n.1537G>A
c.3980G>A (p.Gly1327Asp)
n.4353G>A
n.1080G>A
c.3149G>A (p.Gly1050Asp)
c.2924G>A (p.Gly975Asp)
c.4019G>A (p.Gly1340Asp)
c.1992G>A
c.*1315G>A (n.*1315G>A)
n.4958G>A
n.3559G>A
c.4070G>A (p.Gly1357Asp)
c.4118G>A (p.Gly1373Asp)
c.4178G>A (p.Gly1393Asp)
c.3728G>A (p.Gly1243Asp)
c.2030G>A (p.Gly677Asp)
c.1847G>A (p.Gly616Asp)
c.4079G>A (p.Gly1360Asp)
c.4031G>A (p.Gly1344Asp)
c.3800G>A (p.Gly1267Asp)
c.3701G>A (p.Gly1234Asp)
c.2882G>A (p.Gly961Asp)
n.4433G>A
13g.51934941C>ACA388019566ATP7Bc.*1863G>T (n.*1863G>T)
c.*2957G>T (n.*2957G>T)
c.3592G>T (p.Gly1198Cys)
c.4213G>T (p.Gly1405Cys)
c.3880G>T (p.Gly1294Cys)
c.3961G>T (p.Gly1321Cys)
n.1536G>T
c.3979G>T (p.Gly1327Cys)
n.4352G>T
n.1079G>T
c.3148G>T (p.Gly1050Cys)
c.2923G>T (p.Gly975Cys)
c.4018G>T (p.Gly1340Cys)
c.1991G>T
c.*1314G>T (n.*1314G>T)
n.4957G>T
n.3558G>T
c.4069G>T (p.Gly1357Cys)
c.4117G>T (p.Gly1373Cys)
c.4177G>T (p.Gly1393Cys)
c.3727G>T (p.Gly1243Cys)
c.2029G>T (p.Gly677Cys)
c.1846G>T (p.Gly616Cys)
c.4078G>T (p.Gly1360Cys)
c.4030G>T (p.Gly1344Cys)
c.3799G>T (p.Gly1267Cys)
c.3700G>T (p.Gly1234Cys)
c.2881G>T (p.Gly961Cys)
n.4432G>T
13g.51934941C=CA2091550460ATP7Bc.*1863G= (n.*1863G=)
c.*2957G= (n.*2957G=)
c.3592G= (p.Gly1198=)
c.4213G= (p.Gly1405=)
c.3880G= (p.Gly1294=)
c.3961G= (p.Gly1321=)
n.1536G=
c.3979G= (p.Gly1327=)
n.4352G=
n.1079G=
c.3148G= (p.Gly1050=)
c.2923G= (p.Gly975=)
c.4018G= (p.Gly1340=)
c.1991G=
c.*1314G= (n.*1314G=)
n.4957G=
n.3558G=
c.4069G= (p.Gly1357=)
c.4117G= (p.Gly1373=)
c.4177G= (p.Gly1393=)
c.3727G= (p.Gly1243=)
c.2029G= (p.Gly677=)
c.1846G= (p.Gly616=)
c.4078G= (p.Gly1360=)
c.4030G= (p.Gly1344=)
c.3799G= (p.Gly1267=)
c.3700G= (p.Gly1234=)
c.2881G= (p.Gly961=)
n.4432G=
13g.51934941C>GCA388019568ATP7Bc.*1863G>C (n.*1863G>C)
c.*2957G>C (n.*2957G>C)
c.3592G>C (p.Gly1198Arg)
c.4213G>C (p.Gly1405Arg)
c.3880G>C (p.Gly1294Arg)
c.3961G>C (p.Gly1321Arg)
n.1536G>C
c.3979G>C (p.Gly1327Arg)
n.4352G>C
n.1079G>C
c.3148G>C (p.Gly1050Arg)
c.2923G>C (p.Gly975Arg)
c.4018G>C (p.Gly1340Arg)
c.1991G>C
c.*1314G>C (n.*1314G>C)
n.4957G>C
n.3558G>C
c.4069G>C (p.Gly1357Arg)
c.4117G>C (p.Gly1373Arg)
c.4177G>C (p.Gly1393Arg)
c.3727G>C (p.Gly1243Arg)
c.2029G>C (p.Gly677Arg)
c.1846G>C (p.Gly616Arg)
c.4078G>C (p.Gly1360Arg)
c.4030G>C (p.Gly1344Arg)
c.3799G>C (p.Gly1267Arg)
c.3700G>C (p.Gly1234Arg)
c.2881G>C (p.Gly961Arg)
n.4432G>C
13g.51934941C>TCA6988455ATP7Bc.*1863G>A (n.*1863G>A)
c.*2957G>A (n.*2957G>A)
c.3592G>A (p.Gly1198Ser)
c.4213G>A (p.Gly1405Ser)
c.3880G>A (p.Gly1294Ser)
c.3961G>A (p.Gly1321Ser)
n.1536G>A
c.3979G>A (p.Gly1327Ser)
n.4352G>A
n.1079G>A
c.3148G>A (p.Gly1050Ser)
c.2923G>A (p.Gly975Ser)
c.4018G>A (p.Gly1340Ser)
c.1991G>A
c.*1314G>A (n.*1314G>A)
n.4957G>A
n.3558G>A
c.4069G>A (p.Gly1357Ser)
c.4117G>A (p.Gly1373Ser)
c.4177G>A (p.Gly1393Ser)
c.3727G>A (p.Gly1243Ser)
c.2029G>A (p.Gly677Ser)
c.1846G>A (p.Gly616Ser)
c.4078G>A (p.Gly1360Ser)
c.4030G>A (p.Gly1344Ser)
c.3799G>A (p.Gly1267Ser)
c.3700G>A (p.Gly1234Ser)
c.2881G>A (p.Gly961Ser)
n.4432G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934942T>ACA484024188ATP7Bc.*1862A>T (n.*1862A>T)
c.*2956A>T (n.*2956A>T)
c.3591A>T (p.Ile1197=)
c.4212A>T (p.Ile1404=)
c.3879A>T (p.Ile1293=)
c.3960A>T (p.Ile1320=)
n.1535A>T
c.3978A>T (p.Ile1326=)
n.4351A>T
n.1078A>T
c.3147A>T (p.Ile1049=)
c.2922A>T (p.Ile974=)
c.4017A>T (p.Ile1339=)
c.1990A>T
c.*1313A>T (n.*1313A>T)
n.4956A>T
n.3557A>T
c.4068A>T (p.Ile1356=)
c.4116A>T (p.Ile1372=)
c.4176A>T (p.Ile1392=)
c.3726A>T (p.Ile1242=)
c.2028A>T (p.Ile676=)
c.1845A>T (p.Ile615=)
c.4077A>T (p.Ile1359=)
c.4029A>T (p.Ile1343=)
c.3798A>T (p.Ile1266=)
c.3699A>T (p.Ile1233=)
c.2880A>T (p.Ile960=)
n.4431A>T
 gnomAD v4
13g.51934942T>CCA388019569ATP7Bc.*1862A>G (n.*1862A>G)
c.*2956A>G (n.*2956A>G)
c.3591A>G (p.Ile1197Met)
c.4212A>G (p.Ile1404Met)
c.3879A>G (p.Ile1293Met)
c.3960A>G (p.Ile1320Met)
n.1535A>G
c.3978A>G (p.Ile1326Met)
n.4351A>G
n.1078A>G
c.3147A>G (p.Ile1049Met)
c.2922A>G (p.Ile974Met)
c.4017A>G (p.Ile1339Met)
c.1990A>G
c.*1313A>G (n.*1313A>G)
n.4956A>G
n.3557A>G
c.4068A>G (p.Ile1356Met)
c.4116A>G (p.Ile1372Met)
c.4176A>G (p.Ile1392Met)
c.3726A>G (p.Ile1242Met)
c.2028A>G (p.Ile676Met)
c.1845A>G (p.Ile615Met)
c.4077A>G (p.Ile1359Met)
c.4029A>G (p.Ile1343Met)
c.3798A>G (p.Ile1266Met)
c.3699A>G (p.Ile1233Met)
c.2880A>G (p.Ile960Met)
n.4431A>G
 dbSNP gnomAD v2 gnomAD v4
13g.51934942T>GCA484024189ATP7Bc.*1862A>C (n.*1862A>C)
c.*2956A>C (n.*2956A>C)
c.3591A>C (p.Ile1197=)
c.4212A>C (p.Ile1404=)
c.3879A>C (p.Ile1293=)
c.3960A>C (p.Ile1320=)
n.1535A>C
c.3978A>C (p.Ile1326=)
n.4351A>C
n.1078A>C
c.3147A>C (p.Ile1049=)
c.2922A>C (p.Ile974=)
c.4017A>C (p.Ile1339=)
c.1990A>C
c.*1313A>C (n.*1313A>C)
n.4956A>C
n.3557A>C
c.4068A>C (p.Ile1356=)
c.4116A>C (p.Ile1372=)
c.4176A>C (p.Ile1392=)
c.3726A>C (p.Ile1242=)
c.2028A>C (p.Ile676=)
c.1845A>C (p.Ile615=)
c.4077A>C (p.Ile1359=)
c.4029A>C (p.Ile1343=)
c.3798A>C (p.Ile1266=)
c.3699A>C (p.Ile1233=)
c.2880A>C (p.Ile960=)
n.4431A>C
13g.51934942T=CA2091550464ATP7Bc.*1862A= (n.*1862A=)
c.*2956A= (n.*2956A=)
c.3591A= (p.Ile1197=)
c.4212A= (p.Ile1404=)
c.3879A= (p.Ile1293=)
c.3960A= (p.Ile1320=)
n.1535A=
c.3978A= (p.Ile1326=)
n.4351A=
n.1078A=
c.3147A= (p.Ile1049=)
c.2922A= (p.Ile974=)
c.4017A= (p.Ile1339=)
c.1990A=
c.*1313A= (n.*1313A=)
n.4956A=
n.3557A=
c.4068A= (p.Ile1356=)
c.4116A= (p.Ile1372=)
c.4176A= (p.Ile1392=)
c.3726A= (p.Ile1242=)
c.2028A= (p.Ile676=)
c.1845A= (p.Ile615=)
c.4077A= (p.Ile1359=)
c.4029A= (p.Ile1343=)
c.3798A= (p.Ile1266=)
c.3699A= (p.Ile1233=)
c.2880A= (p.Ile960=)
n.4431A=
13g.51934943A>CCA388019573ATP7Bc.*1861T>G (n.*1861T>G)
c.*2955T>G (n.*2955T>G)
c.3590T>G (p.Ile1197Arg)
c.4211T>G (p.Ile1404Arg)
c.3878T>G (p.Ile1293Arg)
c.3959T>G (p.Ile1320Arg)
n.1534T>G
c.3977T>G (p.Ile1326Arg)
n.4350T>G
n.1077T>G
c.3146T>G (p.Ile1049Arg)
c.2921T>G (p.Ile974Arg)
c.4016T>G (p.Ile1339Arg)
c.1989T>G
c.*1312T>G (n.*1312T>G)
n.4955T>G
n.3556T>G
c.4067T>G (p.Ile1356Arg)
c.4115T>G (p.Ile1372Arg)
c.4175T>G (p.Ile1392Arg)
c.3725T>G (p.Ile1242Arg)
c.2027T>G (p.Ile676Arg)
c.1844T>G (p.Ile615Arg)
c.4076T>G (p.Ile1359Arg)
c.4028T>G (p.Ile1343Arg)
c.3797T>G (p.Ile1266Arg)
c.3698T>G (p.Ile1233Arg)
c.2879T>G (p.Ile960Arg)
n.4430T>G
13g.51934943A>GCA388019571ATP7Bc.*1861T>C (n.*1861T>C)
c.*2955T>C (n.*2955T>C)
c.3590T>C (p.Ile1197Thr)
c.4211T>C (p.Ile1404Thr)
c.3878T>C (p.Ile1293Thr)
c.3959T>C (p.Ile1320Thr)
n.1534T>C
c.3977T>C (p.Ile1326Thr)
n.4350T>C
n.1077T>C
c.3146T>C (p.Ile1049Thr)
c.2921T>C (p.Ile974Thr)
c.4016T>C (p.Ile1339Thr)
c.1989T>C
c.*1312T>C (n.*1312T>C)
n.4955T>C
n.3556T>C
c.4067T>C (p.Ile1356Thr)
c.4115T>C (p.Ile1372Thr)
c.4175T>C (p.Ile1392Thr)
c.3725T>C (p.Ile1242Thr)
c.2027T>C (p.Ile676Thr)
c.1844T>C (p.Ile615Thr)
c.4076T>C (p.Ile1359Thr)
c.4028T>C (p.Ile1343Thr)
c.3797T>C (p.Ile1266Thr)
c.3698T>C (p.Ile1233Thr)
c.2879T>C (p.Ile960Thr)
n.4430T>C
 gnomAD v4
13g.51934943A>TCA388019572ATP7Bc.*1861T>A (n.*1861T>A)
c.*2955T>A (n.*2955T>A)
c.3590T>A (p.Ile1197Lys)
c.4211T>A (p.Ile1404Lys)
c.3878T>A (p.Ile1293Lys)
c.3959T>A (p.Ile1320Lys)
n.1534T>A
c.3977T>A (p.Ile1326Lys)
n.4350T>A
n.1077T>A
c.3146T>A (p.Ile1049Lys)
c.2921T>A (p.Ile974Lys)
c.4016T>A (p.Ile1339Lys)
c.1989T>A
c.*1312T>A (n.*1312T>A)
n.4955T>A
n.3556T>A
c.4067T>A (p.Ile1356Lys)
c.4115T>A (p.Ile1372Lys)
c.4175T>A (p.Ile1392Lys)
c.3725T>A (p.Ile1242Lys)
c.2027T>A (p.Ile676Lys)
c.1844T>A (p.Ile615Lys)
c.4076T>A (p.Ile1359Lys)
c.4028T>A (p.Ile1343Lys)
c.3797T>A (p.Ile1266Lys)
c.3698T>A (p.Ile1233Lys)
c.2879T>A (p.Ile960Lys)
n.4430T>A
13g.51934944T>ACA388019574ATP7Bc.*1860A>T (n.*1860A>T)
c.*2954A>T (n.*2954A>T)
c.3589A>T (p.Ile1197Leu)
c.4210A>T (p.Ile1404Leu)
c.3877A>T (p.Ile1293Leu)
c.3958A>T (p.Ile1320Leu)
n.1533A>T
c.3976A>T (p.Ile1326Leu)
n.4349A>T
n.1076A>T
c.3145A>T (p.Ile1049Leu)
c.2920A>T (p.Ile974Leu)
c.4015A>T (p.Ile1339Leu)
c.1988A>T
c.*1311A>T (n.*1311A>T)
n.4954A>T
n.3555A>T
c.4066A>T (p.Ile1356Leu)
c.4114A>T (p.Ile1372Leu)
c.4174A>T (p.Ile1392Leu)
c.3724A>T (p.Ile1242Leu)
c.2026A>T (p.Ile676Leu)
c.1843A>T (p.Ile615Leu)
c.4075A>T (p.Ile1359Leu)
c.4027A>T (p.Ile1343Leu)
c.3796A>T (p.Ile1266Leu)
c.3697A>T (p.Ile1233Leu)
c.2878A>T (p.Ile960Leu)
n.4429A>T
13g.51934944T>CCA388019576ATP7Bc.*1860A>G (n.*1860A>G)
c.*2954A>G (n.*2954A>G)
c.3589A>G (p.Ile1197Val)
c.4210A>G (p.Ile1404Val)
c.3877A>G (p.Ile1293Val)
c.3958A>G (p.Ile1320Val)
n.1533A>G
c.3976A>G (p.Ile1326Val)
n.4349A>G
n.1076A>G
c.3145A>G (p.Ile1049Val)
c.2920A>G (p.Ile974Val)
c.4015A>G (p.Ile1339Val)
c.1988A>G
c.*1311A>G (n.*1311A>G)
n.4954A>G
n.3555A>G
c.4066A>G (p.Ile1356Val)
c.4114A>G (p.Ile1372Val)
c.4174A>G (p.Ile1392Val)
c.3724A>G (p.Ile1242Val)
c.2026A>G (p.Ile676Val)
c.1843A>G (p.Ile615Val)
c.4075A>G (p.Ile1359Val)
c.4027A>G (p.Ile1343Val)
c.3796A>G (p.Ile1266Val)
c.3697A>G (p.Ile1233Val)
c.2878A>G (p.Ile960Val)
n.4429A>G
13g.51934944T>GCA388019575ATP7Bc.*1860A>C (n.*1860A>C)
c.*2954A>C (n.*2954A>C)
c.3589A>C (p.Ile1197Leu)
c.4210A>C (p.Ile1404Leu)
c.3877A>C (p.Ile1293Leu)
c.3958A>C (p.Ile1320Leu)
n.1533A>C
c.3976A>C (p.Ile1326Leu)
n.4349A>C
n.1076A>C
c.3145A>C (p.Ile1049Leu)
c.2920A>C (p.Ile974Leu)
c.4015A>C (p.Ile1339Leu)
c.1988A>C
c.*1311A>C (n.*1311A>C)
n.4954A>C
n.3555A>C
c.4066A>C (p.Ile1356Leu)
c.4114A>C (p.Ile1372Leu)
c.4174A>C (p.Ile1392Leu)
c.3724A>C (p.Ile1242Leu)
c.2026A>C (p.Ile676Leu)
c.1843A>C (p.Ile615Leu)
c.4075A>C (p.Ile1359Leu)
c.4027A>C (p.Ile1343Leu)
c.3796A>C (p.Ile1266Leu)
c.3697A>C (p.Ile1233Leu)
c.2878A>C (p.Ile960Leu)
n.4429A>C
13g.51934945G>ACA484024190ATP7Bc.*1859C>T (n.*1859C>T)
c.*2953C>T (n.*2953C>T)
c.3588C>T (p.His1196=)
c.4209C>T (p.His1403=)
c.3876C>T (p.His1292=)
c.3957C>T (p.His1319=)
n.1532C>T
c.3975C>T (p.His1325=)
n.4348C>T
n.1075C>T
c.3144C>T (p.His1048=)
c.2919C>T (p.His973=)
c.4014C>T (p.His1338=)
c.1987C>T
c.*1310C>T (n.*1310C>T)
n.4953C>T
n.3554C>T
c.4065C>T (p.His1355=)
c.4113C>T (p.His1371=)
c.4173C>T (p.His1391=)
c.3723C>T (p.His1241=)
c.2025C>T (p.His675=)
c.1842C>T (p.His614=)
c.4074C>T (p.His1358=)
c.4026C>T (p.His1342=)
c.3795C>T (p.His1265=)
c.3696C>T (p.His1232=)
c.2877C>T (p.His959=)
n.4428C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
13g.51934945G>CCA388019578ATP7Bc.*1859C>G (n.*1859C>G)
c.*2953C>G (n.*2953C>G)
c.3588C>G (p.His1196Gln)
c.4209C>G (p.His1403Gln)
c.3876C>G (p.His1292Gln)
c.3957C>G (p.His1319Gln)
n.1532C>G
c.3975C>G (p.His1325Gln)
n.4348C>G
n.1075C>G
c.3144C>G (p.His1048Gln)
c.2919C>G (p.His973Gln)
c.4014C>G (p.His1338Gln)
c.1987C>G
c.*1310C>G (n.*1310C>G)
n.4953C>G
n.3554C>G
c.4065C>G (p.His1355Gln)
c.4113C>G (p.His1371Gln)
c.4173C>G (p.His1391Gln)
c.3723C>G (p.His1241Gln)
c.2025C>G (p.His675Gln)
c.1842C>G (p.His614Gln)
c.4074C>G (p.His1358Gln)
c.4026C>G (p.His1342Gln)
c.3795C>G (p.His1265Gln)
c.3696C>G (p.His1232Gln)
c.2877C>G (p.His959Gln)
n.4428C>G
13g.51934945G=CA2091550466ATP7Bc.*1859C= (n.*1859C=)
c.*2953C= (n.*2953C=)
c.3588C= (p.His1196=)
c.4209C= (p.His1403=)
c.3876C= (p.His1292=)
c.3957C= (p.His1319=)
n.1532C=
c.3975C= (p.His1325=)
n.4348C=
n.1075C=
c.3144C= (p.His1048=)
c.2919C= (p.His973=)
c.4014C= (p.His1338=)
c.1987C=
c.*1310C= (n.*1310C=)
n.4953C=
n.3554C=
c.4065C= (p.His1355=)
c.4113C= (p.His1371=)
c.4173C= (p.His1391=)
c.3723C= (p.His1241=)
c.2025C= (p.His675=)
c.1842C= (p.His614=)
c.4074C= (p.His1358=)
c.4026C= (p.His1342=)
c.3795C= (p.His1265=)
c.3696C= (p.His1232=)
c.2877C= (p.His959=)
n.4428C=
13g.51934945G>TCA388019579ATP7Bc.*1859C>A (n.*1859C>A)
c.*2953C>A (n.*2953C>A)
c.3588C>A (p.His1196Gln)
c.4209C>A (p.His1403Gln)
c.3876C>A (p.His1292Gln)
c.3957C>A (p.His1319Gln)
n.1532C>A
c.3975C>A (p.His1325Gln)
n.4348C>A
n.1075C>A
c.3144C>A (p.His1048Gln)
c.2919C>A (p.His973Gln)
c.4014C>A (p.His1338Gln)
c.1987C>A
c.*1310C>A (n.*1310C>A)
n.4953C>A
n.3554C>A
c.4065C>A (p.His1355Gln)
c.4113C>A (p.His1371Gln)
c.4173C>A (p.His1391Gln)
c.3723C>A (p.His1241Gln)
c.2025C>A (p.His675Gln)
c.1842C>A (p.His614Gln)
c.4074C>A (p.His1358Gln)
c.4026C>A (p.His1342Gln)
c.3795C>A (p.His1265Gln)
c.3696C>A (p.His1232Gln)
c.2877C>A (p.His959Gln)
n.4428C>A
 dbSNP gnomAD v4
13g.51934946T>ACA388019581ATP7Bc.*1858A>T (n.*1858A>T)
c.*2952A>T (n.*2952A>T)
c.3587A>T (p.His1196Leu)
c.4208A>T (p.His1403Leu)
c.3875A>T (p.His1292Leu)
c.3956A>T (p.His1319Leu)
n.1531A>T
c.3974A>T (p.His1325Leu)
n.4347A>T
n.1074A>T
c.3143A>T (p.His1048Leu)
c.2918A>T (p.His973Leu)
c.4013A>T (p.His1338Leu)
c.1986A>T
c.*1309A>T (n.*1309A>T)
n.4952A>T
n.3553A>T
c.4064A>T (p.His1355Leu)
c.4112A>T (p.His1371Leu)
c.4172A>T (p.His1391Leu)
c.3722A>T (p.His1241Leu)
c.2024A>T (p.His675Leu)
c.1841A>T (p.His614Leu)
c.4073A>T (p.His1358Leu)
c.4025A>T (p.His1342Leu)
c.3794A>T (p.His1265Leu)
c.3695A>T (p.His1232Leu)
c.2876A>T (p.His959Leu)
n.4427A>T
13g.51934946T>CCA388019582ATP7Bc.*1858A>G (n.*1858A>G)
c.*2952A>G (n.*2952A>G)
c.3587A>G (p.His1196Arg)
c.4208A>G (p.His1403Arg)
c.3875A>G (p.His1292Arg)
c.3956A>G (p.His1319Arg)
n.1531A>G
c.3974A>G (p.His1325Arg)
n.4347A>G
n.1074A>G
c.3143A>G (p.His1048Arg)
c.2918A>G (p.His973Arg)
c.4013A>G (p.His1338Arg)
c.1986A>G
c.*1309A>G (n.*1309A>G)
n.4952A>G
n.3553A>G
c.4064A>G (p.His1355Arg)
c.4112A>G (p.His1371Arg)
c.4172A>G (p.His1391Arg)
c.3722A>G (p.His1241Arg)
c.2024A>G (p.His675Arg)
c.1841A>G (p.His614Arg)
c.4073A>G (p.His1358Arg)
c.4025A>G (p.His1342Arg)
c.3794A>G (p.His1265Arg)
c.3695A>G (p.His1232Arg)
c.2876A>G (p.His959Arg)
n.4427A>G
13g.51934946T>GCA388019584ATP7Bc.*1858A>C (n.*1858A>C)
c.*2952A>C (n.*2952A>C)
c.3587A>C (p.His1196Pro)
c.4208A>C (p.His1403Pro)
c.3875A>C (p.His1292Pro)
c.3956A>C (p.His1319Pro)
n.1531A>C
c.3974A>C (p.His1325Pro)
n.4347A>C
n.1074A>C
c.3143A>C (p.His1048Pro)
c.2918A>C (p.His973Pro)
c.4013A>C (p.His1338Pro)
c.1986A>C
c.*1309A>C (n.*1309A>C)
n.4952A>C
n.3553A>C
c.4064A>C (p.His1355Pro)
c.4112A>C (p.His1371Pro)
c.4172A>C (p.His1391Pro)
c.3722A>C (p.His1241Pro)
c.2024A>C (p.His675Pro)
c.1841A>C (p.His614Pro)
c.4073A>C (p.His1358Pro)
c.4025A>C (p.His1342Pro)
c.3794A>C (p.His1265Pro)
c.3695A>C (p.His1232Pro)
c.2876A>C (p.His959Pro)
n.4427A>C
 dbSNP gnomAD v2
13g.51934946T=CA2091550469ATP7Bc.*1858A= (n.*1858A=)
c.*2952A= (n.*2952A=)
c.3587A= (p.His1196=)
c.4208A= (p.His1403=)
c.3875A= (p.His1292=)
c.3956A= (p.His1319=)
n.1531A=
c.3974A= (p.His1325=)
n.4347A=
n.1074A=
c.3143A= (p.His1048=)
c.2918A= (p.His973=)
c.4013A= (p.His1338=)
c.1986A=
c.*1309A= (n.*1309A=)
n.4952A=
n.3553A=
c.4064A= (p.His1355=)
c.4112A= (p.His1371=)
c.4172A= (p.His1391=)
c.3722A= (p.His1241=)
c.2024A= (p.His675=)
c.1841A= (p.His614=)
c.4073A= (p.His1358=)
c.4025A= (p.His1342=)
c.3794A= (p.His1265=)
c.3695A= (p.His1232=)
c.2876A= (p.His959=)
n.4427A=
13g.51934947G>ACA6988456ATP7Bc.*1857C>T (n.*1857C>T)
c.*2951C>T (n.*2951C>T)
c.3586C>T (p.His1196Tyr)
c.4207C>T (p.His1403Tyr)
c.3874C>T (p.His1292Tyr)
c.3955C>T (p.His1319Tyr)
n.1530C>T
c.3973C>T (p.His1325Tyr)
n.4346C>T
n.1073C>T
c.3142C>T (p.His1048Tyr)
c.2917C>T (p.His973Tyr)
c.4012C>T (p.His1338Tyr)
c.1985C>T
c.*1308C>T (n.*1308C>T)
n.4951C>T
n.3552C>T
c.4063C>T (p.His1355Tyr)
c.4111C>T (p.His1371Tyr)
c.4171C>T (p.His1391Tyr)
c.3721C>T (p.His1241Tyr)
c.2023C>T (p.His675Tyr)
c.1840C>T (p.His614Tyr)
c.4072C>T (p.His1358Tyr)
c.4024C>T (p.His1342Tyr)
c.3793C>T (p.His1265Tyr)
c.3694C>T (p.His1232Tyr)
c.2875C>T (p.His959Tyr)
n.4426C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934947G>CCA388019586ATP7Bc.*1857C>G (n.*1857C>G)
c.*2951C>G (n.*2951C>G)
c.3586C>G (p.His1196Asp)
c.4207C>G (p.His1403Asp)
c.3874C>G (p.His1292Asp)
c.3955C>G (p.His1319Asp)
n.1530C>G
c.3973C>G (p.His1325Asp)
n.4346C>G
n.1073C>G
c.3142C>G (p.His1048Asp)
c.2917C>G (p.His973Asp)
c.4012C>G (p.His1338Asp)
c.1985C>G
c.*1308C>G (n.*1308C>G)
n.4951C>G
n.3552C>G
c.4063C>G (p.His1355Asp)
c.4111C>G (p.His1371Asp)
c.4171C>G (p.His1391Asp)
c.3721C>G (p.His1241Asp)
c.2023C>G (p.His675Asp)
c.1840C>G (p.His614Asp)
c.4072C>G (p.His1358Asp)
c.4024C>G (p.His1342Asp)
c.3793C>G (p.His1265Asp)
c.3694C>G (p.His1232Asp)
c.2875C>G (p.His959Asp)
n.4426C>G
13g.51934947G=CA2091550472ATP7Bc.*1857C= (n.*1857C=)
c.*2951C= (n.*2951C=)
c.3586C= (p.His1196=)
c.4207C= (p.His1403=)
c.3874C= (p.His1292=)
c.3955C= (p.His1319=)
n.1530C=
c.3973C= (p.His1325=)
n.4346C=
n.1073C=
c.3142C= (p.His1048=)
c.2917C= (p.His973=)
c.4012C= (p.His1338=)
c.1985C=
c.*1308C= (n.*1308C=)
n.4951C=
n.3552C=
c.4063C= (p.His1355=)
c.4111C= (p.His1371=)
c.4171C= (p.His1391=)
c.3721C= (p.His1241=)
c.2023C= (p.His675=)
c.1840C= (p.His614=)
c.4072C= (p.His1358=)
c.4024C= (p.His1342=)
c.3793C= (p.His1265=)
c.3694C= (p.His1232=)
c.2875C= (p.His959=)
n.4426C=
13g.51934947G>TCA388019587ATP7Bc.*1857C>A (n.*1857C>A)
c.*2951C>A (n.*2951C>A)
c.3586C>A (p.His1196Asn)
c.4207C>A (p.His1403Asn)
c.3874C>A (p.His1292Asn)
c.3955C>A (p.His1319Asn)
n.1530C>A
c.3973C>A (p.His1325Asn)
n.4346C>A
n.1073C>A
c.3142C>A (p.His1048Asn)
c.2917C>A (p.His973Asn)
c.4012C>A (p.His1338Asn)
c.1985C>A
c.*1308C>A (n.*1308C>A)
n.4951C>A
n.3552C>A
c.4063C>A (p.His1355Asn)
c.4111C>A (p.His1371Asn)
c.4171C>A (p.His1391Asn)
c.3721C>A (p.His1241Asn)
c.2023C>A (p.His675Asn)
c.1840C>A (p.His614Asn)
c.4072C>A (p.His1358Asn)
c.4024C>A (p.His1342Asn)
c.3793C>A (p.His1265Asn)
c.3694C>A (p.His1232Asn)
c.2875C>A (p.His959Asn)
n.4426C>A
 dbSNP gnomAD v2 gnomAD v4
13g.51934948C>ACA484024191ATP7Bc.*1856G>T (n.*1856G>T)
c.*2950G>T (n.*2950G>T)
c.3585G>T (p.Val1195=)
c.4206G>T (p.Val1402=)
c.3873G>T (p.Val1291=)
c.3954G>T (p.Val1318=)
n.1529G>T
c.3972G>T (p.Val1324=)
n.4345G>T
n.1072G>T
c.3141G>T (p.Val1047=)
c.2916G>T (p.Val972=)
c.4011G>T (p.Val1337=)
c.1984G>T
c.*1307G>T (n.*1307G>T)
n.4950G>T
n.3551G>T
c.4062G>T (p.Val1354=)
c.4110G>T (p.Val1370=)
c.4170G>T (p.Val1390=)
c.3720G>T (p.Val1240=)
c.2022G>T (p.Val674=)
c.1839G>T (p.Val613=)
c.4071G>T (p.Val1357=)
c.4023G>T (p.Val1341=)
c.3792G>T (p.Val1264=)
c.3693G>T (p.Val1231=)
c.2874G>T (p.Val958=)
n.4425G>T
 dbSNP gnomAD v4
13g.51934948C=CA2091550476ATP7Bc.*1856G= (n.*1856G=)
c.*2950G= (n.*2950G=)
c.3585G= (p.Val1195=)
c.4206G= (p.Val1402=)
c.3873G= (p.Val1291=)
c.3954G= (p.Val1318=)
n.1529G=
c.3972G= (p.Val1324=)
n.4345G=
n.1072G=
c.3141G= (p.Val1047=)
c.2916G= (p.Val972=)
c.4011G= (p.Val1337=)
c.1984G=
c.*1307G= (n.*1307G=)
n.4950G=
n.3551G=
c.4062G= (p.Val1354=)
c.4110G= (p.Val1370=)
c.4170G= (p.Val1390=)
c.3720G= (p.Val1240=)
c.2022G= (p.Val674=)
c.1839G= (p.Val613=)
c.4071G= (p.Val1357=)
c.4023G= (p.Val1341=)
c.3792G= (p.Val1264=)
c.3693G= (p.Val1231=)
c.2874G= (p.Val958=)
n.4425G=
13g.51934948C>GCA250071667ATP7Bc.*1856G>C (n.*1856G>C)
c.*2950G>C (n.*2950G>C)
c.3585G>C (p.Val1195=)
c.4206G>C (p.Val1402=)
c.3873G>C (p.Val1291=)
c.3954G>C (p.Val1318=)
n.1529G>C
c.3972G>C (p.Val1324=)
n.4345G>C
n.1072G>C
c.3141G>C (p.Val1047=)
c.2916G>C (p.Val972=)
c.4011G>C (p.Val1337=)
c.1984G>C
c.*1307G>C (n.*1307G>C)
n.4950G>C
n.3551G>C
c.4062G>C (p.Val1354=)
c.4110G>C (p.Val1370=)
c.4170G>C (p.Val1390=)
c.3720G>C (p.Val1240=)
c.2022G>C (p.Val674=)
c.1839G>C (p.Val613=)
c.4071G>C (p.Val1357=)
c.4023G>C (p.Val1341=)
c.3792G>C (p.Val1264=)
c.3693G>C (p.Val1231=)
c.2874G>C (p.Val958=)
n.4425G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51934948C>TCA484024192ATP7Bc.*1856G>A (n.*1856G>A)
c.*2950G>A (n.*2950G>A)
c.3585G>A (p.Val1195=)
c.4206G>A (p.Val1402=)
c.3873G>A (p.Val1291=)
c.3954G>A (p.Val1318=)
n.1529G>A
c.3972G>A (p.Val1324=)
n.4345G>A
n.1072G>A
c.3141G>A (p.Val1047=)
c.2916G>A (p.Val972=)
c.4011G>A (p.Val1337=)
c.1984G>A
c.*1307G>A (n.*1307G>A)
n.4950G>A
n.3551G>A
c.4062G>A (p.Val1354=)
c.4110G>A (p.Val1370=)
c.4170G>A (p.Val1390=)
c.3720G>A (p.Val1240=)
c.2022G>A (p.Val674=)
c.1839G>A (p.Val613=)
c.4071G>A (p.Val1357=)
c.4023G>A (p.Val1341=)
c.3792G>A (p.Val1264=)
c.3693G>A (p.Val1231=)
c.2874G>A (p.Val958=)
n.4425G>A
 gnomAD v4
13g.51934949A>CCA388019589ATP7Bc.*1855T>G (n.*1855T>G)
c.*2949T>G (n.*2949T>G)
c.3584T>G (p.Val1195Gly)
c.4205T>G (p.Val1402Gly)
c.3872T>G (p.Val1291Gly)
c.3953T>G (p.Val1318Gly)
n.1528T>G
c.3971T>G (p.Val1324Gly)
n.4344T>G
n.1071T>G
c.3140T>G (p.Val1047Gly)
c.2915T>G (p.Val972Gly)
c.4010T>G (p.Val1337Gly)
c.1983T>G
c.*1306T>G (n.*1306T>G)
n.4949T>G
n.3550T>G
c.4061T>G (p.Val1354Gly)
c.4109T>G (p.Val1370Gly)
c.4169T>G (p.Val1390Gly)
c.3719T>G (p.Val1240Gly)
c.2021T>G (p.Val674Gly)
c.1838T>G (p.Val613Gly)
c.4070T>G (p.Val1357Gly)
c.4022T>G (p.Val1341Gly)
c.3791T>G (p.Val1264Gly)
c.3692T>G (p.Val1231Gly)
c.2873T>G (p.Val958Gly)
n.4424T>G
13g.51934949A>GCA388019591ATP7Bc.*1855T>C (n.*1855T>C)
c.*2949T>C (n.*2949T>C)
c.3584T>C (p.Val1195Ala)
c.4205T>C (p.Val1402Ala)
c.3872T>C (p.Val1291Ala)
c.3953T>C (p.Val1318Ala)
n.1528T>C
c.3971T>C (p.Val1324Ala)
n.4344T>C
n.1071T>C
c.3140T>C (p.Val1047Ala)
c.2915T>C (p.Val972Ala)
c.4010T>C (p.Val1337Ala)
c.1983T>C
c.*1306T>C (n.*1306T>C)
n.4949T>C
n.3550T>C
c.4061T>C (p.Val1354Ala)
c.4109T>C (p.Val1370Ala)
c.4169T>C (p.Val1390Ala)
c.3719T>C (p.Val1240Ala)
c.2021T>C (p.Val674Ala)
c.1838T>C (p.Val613Ala)
c.4070T>C (p.Val1357Ala)
c.4022T>C (p.Val1341Ala)
c.3791T>C (p.Val1264Ala)
c.3692T>C (p.Val1231Ala)
c.2873T>C (p.Val958Ala)
n.4424T>C
 gnomAD v4
13g.51934949A>TCA388019593ATP7Bc.*1855T>A (n.*1855T>A)
c.*2949T>A (n.*2949T>A)
c.3584T>A (p.Val1195Glu)
c.4205T>A (p.Val1402Glu)
c.3872T>A (p.Val1291Glu)
c.3953T>A (p.Val1318Glu)
n.1528T>A
c.3971T>A (p.Val1324Glu)
n.4344T>A
n.1071T>A
c.3140T>A (p.Val1047Glu)
c.2915T>A (p.Val972Glu)
c.4010T>A (p.Val1337Glu)
c.1983T>A
c.*1306T>A (n.*1306T>A)
n.4949T>A
n.3550T>A
c.4061T>A (p.Val1354Glu)
c.4109T>A (p.Val1370Glu)
c.4169T>A (p.Val1390Glu)
c.3719T>A (p.Val1240Glu)
c.2021T>A (p.Val674Glu)
c.1838T>A (p.Val613Glu)
c.4070T>A (p.Val1357Glu)
c.4022T>A (p.Val1341Glu)
c.3791T>A (p.Val1264Glu)
c.3692T>A (p.Val1231Glu)
c.2873T>A (p.Val958Glu)
n.4424T>A
13g.51934949dupCA610425746ATP7Bc.*1855dup (n.*1855dup)
c.*2949dup (n.*2949dup)
c.3584dup (p.His1196AlafsTer6)
c.4205dup (p.His1403AlafsTer6)
c.3872dup (p.His1292AlafsTer6)
c.3953dup (p.His1319AlafsTer6)
n.1528dup
c.3971dup (p.His1325AlafsTer6)
n.4344dup
n.1071dup
c.3140dup (p.His1048AlafsTer6)
c.2915dup (p.His973AlafsTer6)
c.4010dup (p.His1338AlafsTer6)
c.1983dup
c.*1306dup (n.*1306dup)
n.4949dup
n.3550dup
c.4061dup (p.His1355AlafsTer6)
c.4109dup (p.His1371AlafsTer6)
c.4169dup (p.His1391AlafsTer6)
c.3719dup (p.His1241AlafsTer6)
c.2021dup (p.His675AlafsTer6)
c.1838dup (p.His614AlafsTer6)
c.4070dup (p.His1358AlafsTer6)
c.4022dup (p.His1342AlafsTer6)
c.3791dup (p.His1265AlafsTer6)
c.3692dup (p.His1232AlafsTer6)
c.2873dup (p.His959AlafsTer6)
n.4424dup
 gnomAD v2
13g.51934950C>ACA388019595ATP7Bc.*1854G>T (n.*1854G>T)
c.*2948G>T (n.*2948G>T)
c.3583G>T (p.Val1195Leu)
c.4204G>T (p.Val1402Leu)
c.3871G>T (p.Val1291Leu)
c.3952G>T (p.Val1318Leu)
n.1527G>T
c.3970G>T (p.Val1324Leu)
n.4343G>T
n.1070G>T
c.3139G>T (p.Val1047Leu)
c.2914G>T (p.Val972Leu)
c.4009G>T (p.Val1337Leu)
c.1982G>T
c.*1305G>T (n.*1305G>T)
n.4948G>T
n.3549G>T
c.4060G>T (p.Val1354Leu)
c.4108G>T (p.Val1370Leu)
c.4168G>T (p.Val1390Leu)
c.3718G>T (p.Val1240Leu)
c.2020G>T (p.Val674Leu)
c.1837G>T (p.Val613Leu)
c.4069G>T (p.Val1357Leu)
c.4021G>T (p.Val1341Leu)
c.3790G>T (p.Val1264Leu)
c.3691G>T (p.Val1231Leu)
c.2872G>T (p.Val958Leu)
n.4423G>T
13g.51934950C>GCA388019597ATP7Bc.*1854G>C (n.*1854G>C)
c.*2948G>C (n.*2948G>C)
c.3583G>C (p.Val1195Leu)
c.4204G>C (p.Val1402Leu)
c.3871G>C (p.Val1291Leu)
c.3952G>C (p.Val1318Leu)
n.1527G>C
c.3970G>C (p.Val1324Leu)
n.4343G>C
n.1070G>C
c.3139G>C (p.Val1047Leu)
c.2914G>C (p.Val972Leu)
c.4009G>C (p.Val1337Leu)
c.1982G>C
c.*1305G>C (n.*1305G>C)
n.4948G>C
n.3549G>C
c.4060G>C (p.Val1354Leu)
c.4108G>C (p.Val1370Leu)
c.4168G>C (p.Val1390Leu)
c.3718G>C (p.Val1240Leu)
c.2020G>C (p.Val674Leu)
c.1837G>C (p.Val613Leu)
c.4069G>C (p.Val1357Leu)
c.4021G>C (p.Val1341Leu)
c.3790G>C (p.Val1264Leu)
c.3691G>C (p.Val1231Leu)
c.2872G>C (p.Val958Leu)
n.4423G>C
13g.51934950C>TCA388019598ATP7Bc.*1854G>A (n.*1854G>A)
c.*2948G>A (n.*2948G>A)
c.3583G>A (p.Val1195Met)
c.4204G>A (p.Val1402Met)
c.3871G>A (p.Val1291Met)
c.3952G>A (p.Val1318Met)
n.1527G>A
c.3970G>A (p.Val1324Met)
n.4343G>A
n.1070G>A
c.3139G>A (p.Val1047Met)
c.2914G>A (p.Val972Met)
c.4009G>A (p.Val1337Met)
c.1982G>A
c.*1305G>A (n.*1305G>A)
n.4948G>A
n.3549G>A
c.4060G>A (p.Val1354Met)
c.4108G>A (p.Val1370Met)
c.4168G>A (p.Val1390Met)
c.3718G>A (p.Val1240Met)
c.2020G>A (p.Val674Met)
c.1837G>A (p.Val613Met)
c.4069G>A (p.Val1357Met)
c.4021G>A (p.Val1341Met)
c.3790G>A (p.Val1264Met)
c.3691G>A (p.Val1231Met)
c.2872G>A (p.Val958Met)
n.4423G>A
13g.51934951A>CCA388019600ATP7Bc.*1853T>G (n.*1853T>G)
c.*2947T>G (n.*2947T>G)
c.3582T>G (p.Ser1194Arg)
c.4203T>G (p.Ser1401Arg)
c.3870T>G (p.Ser1290Arg)
c.3951T>G (p.Ser1317Arg)
n.1526T>G
c.3969T>G (p.Ser1323Arg)
n.4342T>G
n.1069T>G
c.3138T>G (p.Ser1046Arg)
c.2913T>G (p.Ser971Arg)
c.4008T>G (p.Ser1336Arg)
c.1981T>G
c.*1304T>G (n.*1304T>G)
n.4947T>G
n.3548T>G
c.4059T>G (p.Ser1353Arg)
c.4107T>G (p.Ser1369Arg)
c.4167T>G (p.Ser1389Arg)
c.3717T>G (p.Ser1239Arg)
c.2019T>G (p.Ser673Arg)
c.1836T>G (p.Ser612Arg)
c.4068T>G (p.Ser1356Arg)
c.4020T>G (p.Ser1340Arg)
c.3789T>G (p.Ser1263Arg)
c.3690T>G (p.Ser1230Arg)
c.2871T>G (p.Ser957Arg)
n.4422T>G
13g.51934951A>GCA484024193ATP7Bc.*1853T>C (n.*1853T>C)
c.*2947T>C (n.*2947T>C)
c.3582T>C (p.Ser1194=)
c.4203T>C (p.Ser1401=)
c.3870T>C (p.Ser1290=)
c.3951T>C (p.Ser1317=)
n.1526T>C
c.3969T>C (p.Ser1323=)
n.4342T>C
n.1069T>C
c.3138T>C (p.Ser1046=)
c.2913T>C (p.Ser971=)
c.4008T>C (p.Ser1336=)
c.1981T>C
c.*1304T>C (n.*1304T>C)
n.4947T>C
n.3548T>C
c.4059T>C (p.Ser1353=)
c.4107T>C (p.Ser1369=)
c.4167T>C (p.Ser1389=)
c.3717T>C (p.Ser1239=)
c.2019T>C (p.Ser673=)
c.1836T>C (p.Ser612=)
c.4068T>C (p.Ser1356=)
c.4020T>C (p.Ser1340=)
c.3789T>C (p.Ser1263=)
c.3690T>C (p.Ser1230=)
c.2871T>C (p.Ser957=)
n.4422T>C
13g.51934951A>TCA388019602ATP7Bc.*1853T>A (n.*1853T>A)
c.*2947T>A (n.*2947T>A)
c.3582T>A (p.Ser1194Arg)
c.4203T>A (p.Ser1401Arg)
c.3870T>A (p.Ser1290Arg)
c.3951T>A (p.Ser1317Arg)
n.1526T>A
c.3969T>A (p.Ser1323Arg)
n.4342T>A
n.1069T>A
c.3138T>A (p.Ser1046Arg)
c.2913T>A (p.Ser971Arg)
c.4008T>A (p.Ser1336Arg)
c.1981T>A
c.*1304T>A (n.*1304T>A)
n.4947T>A
n.3548T>A
c.4059T>A (p.Ser1353Arg)
c.4107T>A (p.Ser1369Arg)
c.4167T>A (p.Ser1389Arg)
c.3717T>A (p.Ser1239Arg)
c.2019T>A (p.Ser673Arg)
c.1836T>A (p.Ser612Arg)
c.4068T>A (p.Ser1356Arg)
c.4020T>A (p.Ser1340Arg)
c.3789T>A (p.Ser1263Arg)
c.3690T>A (p.Ser1230Arg)
c.2871T>A (p.Ser957Arg)
n.4422T>A
13g.51934952C>ACA388019603ATP7Bc.*1852G>T (n.*1852G>T)
c.*2946G>T (n.*2946G>T)
c.3581G>T (p.Ser1194Ile)
c.4202G>T (p.Ser1401Ile)
c.3869G>T (p.Ser1290Ile)
c.3950G>T (p.Ser1317Ile)
n.1525G>T
c.3968G>T (p.Ser1323Ile)
n.4341G>T
n.1068G>T
c.3137G>T (p.Ser1046Ile)
c.2912G>T (p.Ser971Ile)
c.4007G>T (p.Ser1336Ile)
c.1980G>T
c.*1303G>T (n.*1303G>T)
n.4946G>T
n.3547G>T
c.4058G>T (p.Ser1353Ile)
c.4106G>T (p.Ser1369Ile)
c.4166G>T (p.Ser1389Ile)
c.3716G>T (p.Ser1239Ile)
c.2018G>T (p.Ser673Ile)
c.1835G>T (p.Ser612Ile)
c.4067G>T (p.Ser1356Ile)
c.4019G>T (p.Ser1340Ile)
c.3788G>T (p.Ser1263Ile)
c.3689G>T (p.Ser1230Ile)
c.2870G>T (p.Ser957Ile)
n.4421G>T
13g.51934952C=CA2091550480ATP7Bc.*1852G= (n.*1852G=)
c.*2946G= (n.*2946G=)
c.3581G= (p.Ser1194=)
c.4202G= (p.Ser1401=)
c.3869G= (p.Ser1290=)
c.3950G= (p.Ser1317=)
n.1525G=
c.3968G= (p.Ser1323=)
n.4341G=
n.1068G=
c.3137G= (p.Ser1046=)
c.2912G= (p.Ser971=)
c.4007G= (p.Ser1336=)
c.1980G=
c.*1303G= (n.*1303G=)
n.4946G=
n.3547G=
c.4058G= (p.Ser1353=)
c.4106G= (p.Ser1369=)
c.4166G= (p.Ser1389=)
c.3716G= (p.Ser1239=)
c.2018G= (p.Ser673=)
c.1835G= (p.Ser612=)
c.4067G= (p.Ser1356=)
c.4019G= (p.Ser1340=)
c.3788G= (p.Ser1263=)
c.3689G= (p.Ser1230=)
c.2870G= (p.Ser957=)
n.4421G=
13g.51934952C>GCA388019605ATP7Bc.*1852G>C (n.*1852G>C)
c.*2946G>C (n.*2946G>C)
c.3581G>C (p.Ser1194Thr)
c.4202G>C (p.Ser1401Thr)
c.3869G>C (p.Ser1290Thr)
c.3950G>C (p.Ser1317Thr)
n.1525G>C
c.3968G>C (p.Ser1323Thr)
n.4341G>C
n.1068G>C
c.3137G>C (p.Ser1046Thr)
c.2912G>C (p.Ser971Thr)
c.4007G>C (p.Ser1336Thr)
c.1980G>C
c.*1303G>C (n.*1303G>C)
n.4946G>C
n.3547G>C
c.4058G>C (p.Ser1353Thr)
c.4106G>C (p.Ser1369Thr)
c.4166G>C (p.Ser1389Thr)
c.3716G>C (p.Ser1239Thr)
c.2018G>C (p.Ser673Thr)
c.1835G>C (p.Ser612Thr)
c.4067G>C (p.Ser1356Thr)
c.4019G>C (p.Ser1340Thr)
c.3788G>C (p.Ser1263Thr)
c.3689G>C (p.Ser1230Thr)
c.2870G>C (p.Ser957Thr)
n.4421G>C
13g.51934952C>TCA388019606ATP7Bc.*1852G>A (n.*1852G>A)
c.*2946G>A (n.*2946G>A)
c.3581G>A (p.Ser1194Asn)
c.4202G>A (p.Ser1401Asn)
c.3869G>A (p.Ser1290Asn)
c.3950G>A (p.Ser1317Asn)
n.1525G>A
c.3968G>A (p.Ser1323Asn)
n.4341G>A
n.1068G>A
c.3137G>A (p.Ser1046Asn)
c.2912G>A (p.Ser971Asn)
c.4007G>A (p.Ser1336Asn)
c.1980G>A
c.*1303G>A (n.*1303G>A)
n.4946G>A
n.3547G>A
c.4058G>A (p.Ser1353Asn)
c.4106G>A (p.Ser1369Asn)
c.4166G>A (p.Ser1389Asn)
c.3716G>A (p.Ser1239Asn)
c.2018G>A (p.Ser673Asn)
c.1835G>A (p.Ser612Asn)
c.4067G>A (p.Ser1356Asn)
c.4019G>A (p.Ser1340Asn)
c.3788G>A (p.Ser1263Asn)
c.3689G>A (p.Ser1230Asn)
c.2870G>A (p.Ser957Asn)
n.4421G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51934953T>ACA388019607ATP7Bc.*1851A>T (n.*1851A>T)
c.*2945A>T (n.*2945A>T)
c.3580A>T (p.Ser1194Cys)
c.4201A>T (p.Ser1401Cys)
c.3868A>T (p.Ser1290Cys)
c.3949A>T (p.Ser1317Cys)
n.1524A>T
c.3967A>T (p.Ser1323Cys)
n.4340A>T
n.1067A>T
c.3136A>T (p.Ser1046Cys)
c.2911A>T (p.Ser971Cys)
c.4006A>T (p.Ser1336Cys)
c.1979A>T
c.*1302A>T (n.*1302A>T)
n.4945A>T
n.3546A>T
c.4057A>T (p.Ser1353Cys)
c.4105A>T (p.Ser1369Cys)
c.4165A>T (p.Ser1389Cys)
c.3715A>T (p.Ser1239Cys)
c.2017A>T (p.Ser673Cys)
c.1834A>T (p.Ser612Cys)
c.4066A>T (p.Ser1356Cys)
c.4018A>T (p.Ser1340Cys)
c.3787A>T (p.Ser1263Cys)
c.3688A>T (p.Ser1230Cys)
c.2869A>T (p.Ser957Cys)
n.4420A>T
13g.51934953T>CCA388019608ATP7Bc.*1851A>G (n.*1851A>G)
c.*2945A>G (n.*2945A>G)
c.3580A>G (p.Ser1194Gly)
c.4201A>G (p.Ser1401Gly)
c.3868A>G (p.Ser1290Gly)
c.3949A>G (p.Ser1317Gly)
n.1524A>G
c.3967A>G (p.Ser1323Gly)
n.4340A>G
n.1067A>G
c.3136A>G (p.Ser1046Gly)
c.2911A>G (p.Ser971Gly)
c.4006A>G (p.Ser1336Gly)
c.1979A>G
c.*1302A>G (n.*1302A>G)
n.4945A>G
n.3546A>G
c.4057A>G (p.Ser1353Gly)
c.4105A>G (p.Ser1369Gly)
c.4165A>G (p.Ser1389Gly)
c.3715A>G (p.Ser1239Gly)
c.2017A>G (p.Ser673Gly)
c.1834A>G (p.Ser612Gly)
c.4066A>G (p.Ser1356Gly)
c.4018A>G (p.Ser1340Gly)
c.3787A>G (p.Ser1263Gly)
c.3688A>G (p.Ser1230Gly)
c.2869A>G (p.Ser957Gly)
n.4420A>G
 COSMIC
13g.51934953T>GCA388019609ATP7Bc.*1851A>C (n.*1851A>C)
c.*2945A>C (n.*2945A>C)
c.3580A>C (p.Ser1194Arg)
c.4201A>C (p.Ser1401Arg)
c.3868A>C (p.Ser1290Arg)
c.3949A>C (p.Ser1317Arg)
n.1524A>C
c.3967A>C (p.Ser1323Arg)
n.4340A>C
n.1067A>C
c.3136A>C (p.Ser1046Arg)
c.2911A>C (p.Ser971Arg)
c.4006A>C (p.Ser1336Arg)
c.1979A>C
c.*1302A>C (n.*1302A>C)
n.4945A>C
n.3546A>C
c.4057A>C (p.Ser1353Arg)
c.4105A>C (p.Ser1369Arg)
c.4165A>C (p.Ser1389Arg)
c.3715A>C (p.Ser1239Arg)
c.2017A>C (p.Ser673Arg)
c.1834A>C (p.Ser612Arg)
c.4066A>C (p.Ser1356Arg)
c.4018A>C (p.Ser1340Arg)
c.3787A>C (p.Ser1263Arg)
c.3688A>C (p.Ser1230Arg)
c.2869A>C (p.Ser957Arg)
n.4420A>C
13g.51934954G>ACA484024194ATP7Bc.*1850C>T (n.*1850C>T)
c.*2944C>T (n.*2944C>T)
c.3579C>T (p.Val1193=)
c.4200C>T (p.Val1400=)
c.3867C>T (p.Val1289=)
c.3948C>T (p.Val1316=)
n.1523C>T
c.3966C>T (p.Val1322=)
n.4339C>T
n.1066C>T
c.3135C>T (p.Val1045=)
c.2910C>T (p.Val970=)
c.4005C>T (p.Val1335=)
c.1978C>T
c.*1301C>T (n.*1301C>T)
n.4944C>T
n.3545C>T
c.4056C>T (p.Val1352=)
c.4104C>T (p.Val1368=)
c.4164C>T (p.Val1388=)
c.3714C>T (p.Val1238=)
c.2016C>T (p.Val672=)
c.1833C>T (p.Val611=)
c.4065C>T (p.Val1355=)
c.4017C>T (p.Val1339=)
c.3786C>T (p.Val1262=)
c.3687C>T (p.Val1229=)
c.2868C>T (p.Val956=)
n.4419C>T
 gnomAD v4
13g.51934954G>CCA484024195ATP7Bc.*1850C>G (n.*1850C>G)
c.*2944C>G (n.*2944C>G)
c.3579C>G (p.Val1193=)
c.4200C>G (p.Val1400=)
c.3867C>G (p.Val1289=)
c.3948C>G (p.Val1316=)
n.1523C>G
c.3966C>G (p.Val1322=)
n.4339C>G
n.1066C>G
c.3135C>G (p.Val1045=)
c.2910C>G (p.Val970=)
c.4005C>G (p.Val1335=)
c.1978C>G
c.*1301C>G (n.*1301C>G)
n.4944C>G
n.3545C>G
c.4056C>G (p.Val1352=)
c.4104C>G (p.Val1368=)
c.4164C>G (p.Val1388=)
c.3714C>G (p.Val1238=)
c.2016C>G (p.Val672=)
c.1833C>G (p.Val611=)
c.4065C>G (p.Val1355=)
c.4017C>G (p.Val1339=)
c.3786C>G (p.Val1262=)
c.3687C>G (p.Val1229=)
c.2868C>G (p.Val956=)
n.4419C>G
 ClinVar dbSNP
13g.51934954G>TCA484024196ATP7Bc.*1850C>A (n.*1850C>A)
c.*2944C>A (n.*2944C>A)
c.3579C>A (p.Val1193=)
c.4200C>A (p.Val1400=)
c.3867C>A (p.Val1289=)
c.3948C>A (p.Val1316=)
n.1523C>A
c.3966C>A (p.Val1322=)
n.4339C>A
n.1066C>A
c.3135C>A (p.Val1045=)
c.2910C>A (p.Val970=)
c.4005C>A (p.Val1335=)
c.1978C>A
c.*1301C>A (n.*1301C>A)
n.4944C>A
n.3545C>A
c.4056C>A (p.Val1352=)
c.4104C>A (p.Val1368=)
c.4164C>A (p.Val1388=)
c.3714C>A (p.Val1238=)
c.2016C>A (p.Val672=)
c.1833C>A (p.Val611=)
c.4065C>A (p.Val1355=)
c.4017C>A (p.Val1339=)
c.3786C>A (p.Val1262=)
c.3687C>A (p.Val1229=)
c.2868C>A (p.Val956=)
n.4419C>A
 ClinVar dbSNP gnomAD v4
13g.51934955A>CCA388019610ATP7Bc.*1849T>G (n.*1849T>G)
c.*2943T>G (n.*2943T>G)
c.3578T>G (p.Val1193Gly)
c.4199T>G (p.Val1400Gly)
c.3866T>G (p.Val1289Gly)
c.3947T>G (p.Val1316Gly)
n.1522T>G
c.3965T>G (p.Val1322Gly)
n.4338T>G
n.1065T>G
c.3134T>G (p.Val1045Gly)
c.2909T>G (p.Val970Gly)
c.4004T>G (p.Val1335Gly)
c.1977T>G
c.*1300T>G (n.*1300T>G)
n.4943T>G
n.3544T>G
c.4055T>G (p.Val1352Gly)
c.4103T>G (p.Val1368Gly)
c.4163T>G (p.Val1388Gly)
c.3713T>G (p.Val1238Gly)
c.2015T>G (p.Val672Gly)
c.1832T>G (p.Val611Gly)
c.4064T>G (p.Val1355Gly)
c.4016T>G (p.Val1339Gly)
c.3785T>G (p.Val1262Gly)
c.3686T>G (p.Val1229Gly)
c.2867T>G (p.Val956Gly)
n.4418T>G
13g.51934955A>GCA388019611ATP7Bc.*1849T>C (n.*1849T>C)
c.*2943T>C (n.*2943T>C)
c.3578T>C (p.Val1193Ala)
c.4199T>C (p.Val1400Ala)
c.3866T>C (p.Val1289Ala)
c.3947T>C (p.Val1316Ala)
n.1522T>C
c.3965T>C (p.Val1322Ala)
n.4338T>C
n.1065T>C
c.3134T>C (p.Val1045Ala)
c.2909T>C (p.Val970Ala)
c.4004T>C (p.Val1335Ala)
c.1977T>C
c.*1300T>C (n.*1300T>C)
n.4943T>C
n.3544T>C
c.4055T>C (p.Val1352Ala)
c.4103T>C (p.Val1368Ala)
c.4163T>C (p.Val1388Ala)
c.3713T>C (p.Val1238Ala)
c.2015T>C (p.Val672Ala)
c.1832T>C (p.Val611Ala)
c.4064T>C (p.Val1355Ala)
c.4016T>C (p.Val1339Ala)
c.3785T>C (p.Val1262Ala)
c.3686T>C (p.Val1229Ala)
c.2867T>C (p.Val956Ala)
n.4418T>C
13g.51934955A>TCA388019612ATP7Bc.*1849T>A (n.*1849T>A)
c.*2943T>A (n.*2943T>A)
c.3578T>A (p.Val1193Asp)
c.4199T>A (p.Val1400Asp)
c.3866T>A (p.Val1289Asp)
c.3947T>A (p.Val1316Asp)
n.1522T>A
c.3965T>A (p.Val1322Asp)
n.4338T>A
n.1065T>A
c.3134T>A (p.Val1045Asp)
c.2909T>A (p.Val970Asp)
c.4004T>A (p.Val1335Asp)
c.1977T>A
c.*1300T>A (n.*1300T>A)
n.4943T>A
n.3544T>A
c.4055T>A (p.Val1352Asp)
c.4103T>A (p.Val1368Asp)
c.4163T>A (p.Val1388Asp)
c.3713T>A (p.Val1238Asp)
c.2015T>A (p.Val672Asp)
c.1832T>A (p.Val611Asp)
c.4064T>A (p.Val1355Asp)
c.4016T>A (p.Val1339Asp)
c.3785T>A (p.Val1262Asp)
c.3686T>A (p.Val1229Asp)
c.2867T>A (p.Val956Asp)
n.4418T>A
13g.51934956C>ACA388019613ATP7Bc.*1848G>T (n.*1848G>T)
c.*2942G>T (n.*2942G>T)
c.3577G>T (p.Val1193Phe)
c.4198G>T (p.Val1400Phe)
c.3865G>T (p.Val1289Phe)
c.3946G>T (p.Val1316Phe)
n.1521G>T
c.3964G>T (p.Val1322Phe)
n.4337G>T
n.1064G>T
c.3133G>T (p.Val1045Phe)
c.2908G>T (p.Val970Phe)
c.4003G>T (p.Val1335Phe)
c.1976G>T
c.*1299G>T (n.*1299G>T)
n.4942G>T
n.3543G>T
c.4054G>T (p.Val1352Phe)
c.4102G>T (p.Val1368Phe)
c.4162G>T (p.Val1388Phe)
c.3712G>T (p.Val1238Phe)
c.2014G>T (p.Val672Phe)
c.1831G>T (p.Val611Phe)
c.4063G>T (p.Val1355Phe)
c.4015G>T (p.Val1339Phe)
c.3784G>T (p.Val1262Phe)
c.3685G>T (p.Val1229Phe)
c.2866G>T (p.Val956Phe)
n.4417G>T
13g.51934956C=CA2091550484ATP7Bc.*1848G= (n.*1848G=)
c.*2942G= (n.*2942G=)
c.3577G= (p.Val1193=)
c.4198G= (p.Val1400=)
c.3865G= (p.Val1289=)
c.3946G= (p.Val1316=)
n.1521G=
c.3964G= (p.Val1322=)
n.4337G=
n.1064G=
c.3133G= (p.Val1045=)
c.2908G= (p.Val970=)
c.4003G= (p.Val1335=)
c.1976G=
c.*1299G= (n.*1299G=)
n.4942G=
n.3543G=
c.4054G= (p.Val1352=)
c.4102G= (p.Val1368=)
c.4162G= (p.Val1388=)
c.3712G= (p.Val1238=)
c.2014G= (p.Val672=)
c.1831G= (p.Val611=)
c.4063G= (p.Val1355=)
c.4015G= (p.Val1339=)
c.3784G= (p.Val1262=)
c.3685G= (p.Val1229=)
c.2866G= (p.Val956=)
n.4417G=
13g.51934956C>GCA6988457ATP7Bc.*1848G>C (n.*1848G>C)
c.*2942G>C (n.*2942G>C)
c.3577G>C (p.Val1193Leu)
c.4198G>C (p.Val1400Leu)
c.3865G>C (p.Val1289Leu)
c.3946G>C (p.Val1316Leu)
n.1521G>C
c.3964G>C (p.Val1322Leu)
n.4337G>C
n.1064G>C
c.3133G>C (p.Val1045Leu)
c.2908G>C (p.Val970Leu)
c.4003G>C (p.Val1335Leu)
c.1976G>C
c.*1299G>C (n.*1299G>C)
n.4942G>C
n.3543G>C
c.4054G>C (p.Val1352Leu)
c.4102G>C (p.Val1368Leu)
c.4162G>C (p.Val1388Leu)
c.3712G>C (p.Val1238Leu)
c.2014G>C (p.Val672Leu)
c.1831G>C (p.Val611Leu)
c.4063G>C (p.Val1355Leu)
c.4015G>C (p.Val1339Leu)
c.3784G>C (p.Val1262Leu)
c.3685G>C (p.Val1229Leu)
c.2866G>C (p.Val956Leu)
n.4417G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934956C>TCA388019615ATP7Bc.*1848G>A (n.*1848G>A)
c.*2942G>A (n.*2942G>A)
c.3577G>A (p.Val1193Ile)
c.4198G>A (p.Val1400Ile)
c.3865G>A (p.Val1289Ile)
c.3946G>A (p.Val1316Ile)
n.1521G>A
c.3964G>A (p.Val1322Ile)
n.4337G>A
n.1064G>A
c.3133G>A (p.Val1045Ile)
c.2908G>A (p.Val970Ile)
c.4003G>A (p.Val1335Ile)
c.1976G>A
c.*1299G>A (n.*1299G>A)
n.4942G>A
n.3543G>A
c.4054G>A (p.Val1352Ile)
c.4102G>A (p.Val1368Ile)
c.4162G>A (p.Val1388Ile)
c.3712G>A (p.Val1238Ile)
c.2014G>A (p.Val672Ile)
c.1831G>A (p.Val611Ile)
c.4063G>A (p.Val1355Ile)
c.4015G>A (p.Val1339Ile)
c.3784G>A (p.Val1262Ile)
c.3685G>A (p.Val1229Ile)
c.2866G>A (p.Val956Ile)
n.4417G>A
13g.51934957delCA2695199756ATP7Bc.*1848del (n.*1848del)
c.*2942del (n.*2942del)
c.3577del (p.Val1193SerfsTer5)
c.4198del (p.Val1400SerfsTer5)
c.3865del (p.Val1289SerfsTer5)
c.3946del (p.Val1316SerfsTer5)
n.1521del
c.3964del (p.Val1322SerfsTer5)
n.4337del
n.1064del
c.3133del (p.Val1045SerfsTer5)
c.2908del (p.Val970SerfsTer5)
c.4003del (p.Val1335SerfsTer5)
c.1976del
c.*1299del (n.*1299del)
n.4942del
n.3543del
c.4054del (p.Val1352SerfsTer5)
c.4102del (p.Val1368SerfsTer5)
c.4162del (p.Val1388SerfsTer5)
c.3712del (p.Val1238SerfsTer5)
c.2014del (p.Val672SerfsTer5)
c.1831del (p.Val611SerfsTer5)
c.4063del (p.Val1355SerfsTer5)
c.4015del (p.Val1339SerfsTer5)
c.3784del (p.Val1262SerfsTer5)
c.3685del (p.Val1229SerfsTer5)
c.2866del (p.Val956SerfsTer5)
n.4417del
 ClinVar
13g.51934957C>ACA388019617ATP7Bc.*1847G>T (n.*1847G>T)
c.*2941G>T (n.*2941G>T)
c.3576G>T (p.Gln1192His)
c.4197G>T (p.Gln1399His)
c.3864G>T (p.Gln1288His)
c.3945G>T (p.Gln1315His)
n.1520G>T
c.3963G>T (p.Gln1321His)
n.4336G>T
n.1063G>T
c.3132G>T (p.Gln1044His)
c.2907G>T (p.Gln969His)
c.4002G>T (p.Gln1334His)
c.1975G>T
c.*1298G>T (n.*1298G>T)
n.4941G>T
n.3542G>T
c.4053G>T (p.Gln1351His)
c.4101G>T (p.Gln1367His)
c.4161G>T (p.Gln1387His)
c.3711G>T (p.Gln1237His)
c.2013G>T (p.Gln671His)
c.1830G>T (p.Gln610His)
c.4062G>T (p.Gln1354His)
c.4014G>T (p.Gln1338His)
c.3783G>T (p.Gln1261His)
c.3684G>T (p.Gln1228His)
c.2865G>T (p.Gln955His)
n.4416G>T
13g.51934957C>GCA388019618ATP7Bc.*1847G>C (n.*1847G>C)
c.*2941G>C (n.*2941G>C)
c.3576G>C (p.Gln1192His)
c.4197G>C (p.Gln1399His)
c.3864G>C (p.Gln1288His)
c.3945G>C (p.Gln1315His)
n.1520G>C
c.3963G>C (p.Gln1321His)
n.4336G>C
n.1063G>C
c.3132G>C (p.Gln1044His)
c.2907G>C (p.Gln969His)
c.4002G>C (p.Gln1334His)
c.1975G>C
c.*1298G>C (n.*1298G>C)
n.4941G>C
n.3542G>C
c.4053G>C (p.Gln1351His)
c.4101G>C (p.Gln1367His)
c.4161G>C (p.Gln1387His)
c.3711G>C (p.Gln1237His)
c.2013G>C (p.Gln671His)
c.1830G>C (p.Gln610His)
c.4062G>C (p.Gln1354His)
c.4014G>C (p.Gln1338His)
c.3783G>C (p.Gln1261His)
c.3684G>C (p.Gln1228His)
c.2865G>C (p.Gln955His)
n.4416G>C
13g.51934957C>TCA484024197ATP7Bc.*1847G>A (n.*1847G>A)
c.*2941G>A (n.*2941G>A)
c.3576G>A (p.Gln1192=)
c.4197G>A (p.Gln1399=)
c.3864G>A (p.Gln1288=)
c.3945G>A (p.Gln1315=)
n.1520G>A
c.3963G>A (p.Gln1321=)
n.4336G>A
n.1063G>A
c.3132G>A (p.Gln1044=)
c.2907G>A (p.Gln969=)
c.4002G>A (p.Gln1334=)
c.1975G>A
c.*1298G>A (n.*1298G>A)
n.4941G>A
n.3542G>A
c.4053G>A (p.Gln1351=)
c.4101G>A (p.Gln1367=)
c.4161G>A (p.Gln1387=)
c.3711G>A (p.Gln1237=)
c.2013G>A (p.Gln671=)
c.1830G>A (p.Gln610=)
c.4062G>A (p.Gln1354=)
c.4014G>A (p.Gln1338=)
c.3783G>A (p.Gln1261=)
c.3684G>A (p.Gln1228=)
c.2865G>A (p.Gln955=)
n.4416G>A
 gnomAD v4
13g.51934958T>ACA388019620ATP7Bc.*1846A>T (n.*1846A>T)
c.*2940A>T (n.*2940A>T)
c.3575A>T (p.Gln1192Leu)
c.4196A>T (p.Gln1399Leu)
c.3863A>T (p.Gln1288Leu)
c.3944A>T (p.Gln1315Leu)
n.1519A>T
c.3962A>T (p.Gln1321Leu)
n.4335A>T
n.1062A>T
c.3131A>T (p.Gln1044Leu)
c.2906A>T (p.Gln969Leu)
c.4001A>T (p.Gln1334Leu)
c.1974A>T
c.*1297A>T (n.*1297A>T)
n.4940A>T
n.3541A>T
c.4052A>T (p.Gln1351Leu)
c.4100A>T (p.Gln1367Leu)
c.4160A>T (p.Gln1387Leu)
c.3710A>T (p.Gln1237Leu)
c.2012A>T (p.Gln671Leu)
c.1829A>T (p.Gln610Leu)
c.4061A>T (p.Gln1354Leu)
c.4013A>T (p.Gln1338Leu)
c.3782A>T (p.Gln1261Leu)
c.3683A>T (p.Gln1228Leu)
c.2864A>T (p.Gln955Leu)
n.4415A>T
13g.51934958T>CCA388019622ATP7Bc.*1846A>G (n.*1846A>G)
c.*2940A>G (n.*2940A>G)
c.3575A>G (p.Gln1192Arg)
c.4196A>G (p.Gln1399Arg)
c.3863A>G (p.Gln1288Arg)
c.3944A>G (p.Gln1315Arg)
n.1519A>G
c.3962A>G (p.Gln1321Arg)
n.4335A>G
n.1062A>G
c.3131A>G (p.Gln1044Arg)
c.2906A>G (p.Gln969Arg)
c.4001A>G (p.Gln1334Arg)
c.1974A>G
c.*1297A>G (n.*1297A>G)
n.4940A>G
n.3541A>G
c.4052A>G (p.Gln1351Arg)
c.4100A>G (p.Gln1367Arg)
c.4160A>G (p.Gln1387Arg)
c.3710A>G (p.Gln1237Arg)
c.2012A>G (p.Gln671Arg)
c.1829A>G (p.Gln610Arg)
c.4061A>G (p.Gln1354Arg)
c.4013A>G (p.Gln1338Arg)
c.3782A>G (p.Gln1261Arg)
c.3683A>G (p.Gln1228Arg)
c.2864A>G (p.Gln955Arg)
n.4415A>G
13g.51934958T>GCA388019624ATP7Bc.*1846A>C (n.*1846A>C)
c.*2940A>C (n.*2940A>C)
c.3575A>C (p.Gln1192Pro)
c.4196A>C (p.Gln1399Pro)
c.3863A>C (p.Gln1288Pro)
c.3944A>C (p.Gln1315Pro)
n.1519A>C
c.3962A>C (p.Gln1321Pro)
n.4335A>C
n.1062A>C
c.3131A>C (p.Gln1044Pro)
c.2906A>C (p.Gln969Pro)
c.4001A>C (p.Gln1334Pro)
c.1974A>C
c.*1297A>C (n.*1297A>C)
n.4940A>C
n.3541A>C
c.4052A>C (p.Gln1351Pro)
c.4100A>C (p.Gln1367Pro)
c.4160A>C (p.Gln1387Pro)
c.3710A>C (p.Gln1237Pro)
c.2012A>C (p.Gln671Pro)
c.1829A>C (p.Gln610Pro)
c.4061A>C (p.Gln1354Pro)
c.4013A>C (p.Gln1338Pro)
c.3782A>C (p.Gln1261Pro)
c.3683A>C (p.Gln1228Pro)
c.2864A>C (p.Gln955Pro)
n.4415A>C
13g.51934958_51934959delinsTGCA2091550489ATP7Bc.*1845_*1846delinsCA (n.*1845_*1846delinsCA)
c.*2939_*2940delinsCA (n.*2939_*2940delinsCA)
c.3574_3575delinsCA (p.Gln1192=)
c.4195_4196delinsCA (p.Gln1399=)
c.3862_3863delinsCA (p.Gln1288=)
c.3943_3944delinsCA (p.Gln1315=)
n.1518_1519delinsCA
c.3961_3962delinsCA (p.Gln1321=)
n.4334_4335delinsCA
n.1061_1062delinsCA
c.3130_3131delinsCA (p.Gln1044=)
c.2905_2906delinsCA (p.Gln969=)
c.4000_4001delinsCA (p.Gln1334=)
c.1973_1974delinsCA
c.*1296_*1297delinsCA (n.*1296_*1297delinsCA)
n.4939_4940delinsCA
n.3540_3541delinsCA
c.4051_4052delinsCA (p.Gln1351=)
c.4099_4100delinsCA (p.Gln1367=)
c.4159_4160delinsCA (p.Gln1387=)
c.3709_3710delinsCA (p.Gln1237=)
c.2011_2012delinsCA (p.Gln671=)
c.1828_1829delinsCA (p.Gln610=)
c.4060_4061delinsCA (p.Gln1354=)
c.4012_4013delinsCA (p.Gln1338=)
c.3781_3782delinsCA (p.Gln1261=)
c.3682_3683delinsCA (p.Gln1228=)
c.2863_2864delinsCA (p.Gln955=)
n.4414_4415delinsCA
13g.51934958_51934961dupCA2695218703ATP7Bc.*1843_*1846dup (n.*1843_*1846dup)
c.*2937_*2940dup (n.*2937_*2940dup)
c.3572_3575dup (p.Gln1192HisfsTer11)
c.4193_4196dup (p.Gln1399HisfsTer11)
c.3860_3863dup (p.Gln1288HisfsTer11)
c.3941_3944dup (p.Gln1315HisfsTer11)
n.1516_1519dup
c.3959_3962dup (p.Gln1321HisfsTer11)
n.4332_4335dup
n.1059_1062dup
c.3128_3131dup (p.Gln1044HisfsTer11)
c.2903_2906dup (p.Gln969HisfsTer11)
c.3998_4001dup (p.Gln1334HisfsTer11)
c.1971_1974dup
c.*1294_*1297dup (n.*1294_*1297dup)
n.4937_4940dup
n.3538_3541dup
c.4049_4052dup (p.Gln1351HisfsTer11)
c.4097_4100dup (p.Gln1367HisfsTer11)
c.4157_4160dup (p.Gln1387HisfsTer11)
c.3707_3710dup (p.Gln1237HisfsTer11)
c.2009_2012dup (p.Gln671HisfsTer11)
c.1826_1829dup (p.Gln610HisfsTer11)
c.4058_4061dup (p.Gln1354HisfsTer11)
c.4010_4013dup (p.Gln1338HisfsTer11)
c.3779_3782dup (p.Gln1261HisfsTer11)
c.3680_3683dup (p.Gln1228HisfsTer11)
c.2861_2864dup (p.Gln955HisfsTer11)
n.4412_4415dup
13g.51934959G>ACA388019625ATP7Bc.*1845C>T (n.*1845C>T)
c.*2939C>T (n.*2939C>T)
c.3574C>T (p.Gln1192Ter)
c.4195C>T (p.Gln1399Ter)
c.3862C>T (p.Gln1288Ter)
c.3943C>T (p.Gln1315Ter)
n.1518C>T
c.3961C>T (p.Gln1321Ter)
n.4334C>T
n.1061C>T
c.3130C>T (p.Gln1044Ter)
c.2905C>T (p.Gln969Ter)
c.4000C>T (p.Gln1334Ter)
c.1973C>T
c.*1296C>T (n.*1296C>T)
n.4939C>T
n.3540C>T
c.4051C>T (p.Gln1351Ter)
c.4099C>T (p.Gln1367Ter)
c.4159C>T (p.Gln1387Ter)
c.3709C>T (p.Gln1237Ter)
c.2011C>T (p.Gln671Ter)
c.1828C>T (p.Gln610Ter)
c.4060C>T (p.Gln1354Ter)
c.4012C>T (p.Gln1338Ter)
c.3781C>T (p.Gln1261Ter)
c.3682C>T (p.Gln1228Ter)
c.2863C>T (p.Gln955Ter)
n.4414C>T
 ClinVar dbSNP gnomAD v4
13g.51934959G>CCA388019626ATP7Bc.*1845C>G (n.*1845C>G)
c.*2939C>G (n.*2939C>G)
c.3574C>G (p.Gln1192Glu)
c.4195C>G (p.Gln1399Glu)
c.3862C>G (p.Gln1288Glu)
c.3943C>G (p.Gln1315Glu)
n.1518C>G
c.3961C>G (p.Gln1321Glu)
n.4334C>G
n.1061C>G
c.3130C>G (p.Gln1044Glu)
c.2905C>G (p.Gln969Glu)
c.4000C>G (p.Gln1334Glu)
c.1973C>G
c.*1296C>G (n.*1296C>G)
n.4939C>G
n.3540C>G
c.4051C>G (p.Gln1351Glu)
c.4099C>G (p.Gln1367Glu)
c.4159C>G (p.Gln1387Glu)
c.3709C>G (p.Gln1237Glu)
c.2011C>G (p.Gln671Glu)
c.1828C>G (p.Gln610Glu)
c.4060C>G (p.Gln1354Glu)
c.4012C>G (p.Gln1338Glu)
c.3781C>G (p.Gln1261Glu)
c.3682C>G (p.Gln1228Glu)
c.2863C>G (p.Gln955Glu)
n.4414C>G
13g.51934959G>TCA388019627ATP7Bc.*1845C>A (n.*1845C>A)
c.*2939C>A (n.*2939C>A)
c.3574C>A (p.Gln1192Lys)
c.4195C>A (p.Gln1399Lys)
c.3862C>A (p.Gln1288Lys)
c.3943C>A (p.Gln1315Lys)
n.1518C>A
c.3961C>A (p.Gln1321Lys)
n.4334C>A
n.1061C>A
c.3130C>A (p.Gln1044Lys)
c.2905C>A (p.Gln969Lys)
c.4000C>A (p.Gln1334Lys)
c.1973C>A
c.*1296C>A (n.*1296C>A)
n.4939C>A
n.3540C>A
c.4051C>A (p.Gln1351Lys)
c.4099C>A (p.Gln1367Lys)
c.4159C>A (p.Gln1387Lys)
c.3709C>A (p.Gln1237Lys)
c.2011C>A (p.Gln671Lys)
c.1828C>A (p.Gln610Lys)
c.4060C>A (p.Gln1354Lys)
c.4012C>A (p.Gln1338Lys)
c.3781C>A (p.Gln1261Lys)
c.3682C>A (p.Gln1228Lys)
c.2863C>A (p.Gln955Lys)
n.4414C>A
13g.51934961delCA10603190ATP7Bc.*1845del (n.*1845del)
c.*2939del (n.*2939del)
c.3574del (p.Gln1192ArgfsTer6)
c.4195del (p.Gln1399ArgfsTer6)
c.3862del (p.Gln1288ArgfsTer6)
c.3943del (p.Gln1315ArgfsTer6)
n.1518del
c.3961del (p.Gln1321ArgfsTer6)
n.4334del
n.1061del
c.3130del (p.Gln1044ArgfsTer6)
c.2905del (p.Gln969ArgfsTer6)
c.4000del (p.Gln1334ArgfsTer6)
c.1973del
c.*1296del (n.*1296del)
n.4939del
n.3540del
c.4051del (p.Gln1351ArgfsTer6)
c.4099del (p.Gln1367ArgfsTer6)
c.4159del (p.Gln1387ArgfsTer6)
c.3709del (p.Gln1237ArgfsTer6)
c.2011del (p.Gln671ArgfsTer6)
c.1828del (p.Gln610ArgfsTer6)
c.4060del (p.Gln1354ArgfsTer6)
c.4012del (p.Gln1338ArgfsTer6)
c.3781del (p.Gln1261ArgfsTer6)
c.3682del (p.Gln1228ArgfsTer6)
c.2863del (p.Gln955ArgfsTer6)
n.4414del
 ClinVar dbSNP gnomAD v4
13g.51934960G>ACA484024198ATP7Bc.*1844C>T (n.*1844C>T)
c.*2938C>T (n.*2938C>T)
c.3573C>T (p.Ser1191=)
c.4194C>T (p.Ser1398=)
c.3861C>T (p.Ser1287=)
c.3942C>T (p.Ser1314=)
n.1517C>T
c.3960C>T (p.Ser1320=)
n.4333C>T
n.1060C>T
c.3129C>T (p.Ser1043=)
c.2904C>T (p.Ser968=)
c.3999C>T (p.Ser1333=)
c.1972C>T
c.*1295C>T (n.*1295C>T)
n.4938C>T
n.3539C>T
c.4050C>T (p.Ser1350=)
c.4098C>T (p.Ser1366=)
c.4158C>T (p.Ser1386=)
c.3708C>T (p.Ser1236=)
c.2010C>T (p.Ser670=)
c.1827C>T (p.Ser609=)
c.4059C>T (p.Ser1353=)
c.4011C>T (p.Ser1337=)
c.3780C>T (p.Ser1260=)
c.3681C>T (p.Ser1227=)
c.2862C>T (p.Ser954=)
n.4413C>T
 ClinVar dbSNP gnomAD v4
13g.51934960G>CCA484024199ATP7Bc.*1844C>G (n.*1844C>G)
c.*2938C>G (n.*2938C>G)
c.3573C>G (p.Ser1191=)
c.4194C>G (p.Ser1398=)
c.3861C>G (p.Ser1287=)
c.3942C>G (p.Ser1314=)
n.1517C>G
c.3960C>G (p.Ser1320=)
n.4333C>G
n.1060C>G
c.3129C>G (p.Ser1043=)
c.2904C>G (p.Ser968=)
c.3999C>G (p.Ser1333=)
c.1972C>G
c.*1295C>G (n.*1295C>G)
n.4938C>G
n.3539C>G
c.4050C>G (p.Ser1350=)
c.4098C>G (p.Ser1366=)
c.4158C>G (p.Ser1386=)
c.3708C>G (p.Ser1236=)
c.2010C>G (p.Ser670=)
c.1827C>G (p.Ser609=)
c.4059C>G (p.Ser1353=)
c.4011C>G (p.Ser1337=)
c.3780C>G (p.Ser1260=)
c.3681C>G (p.Ser1227=)
c.2862C>G (p.Ser954=)
n.4413C>G
 dbSNP
13g.51934960G>TCA484024200ATP7Bc.*1844C>A (n.*1844C>A)
c.*2938C>A (n.*2938C>A)
c.3573C>A (p.Ser1191=)
c.4194C>A (p.Ser1398=)
c.3861C>A (p.Ser1287=)
c.3942C>A (p.Ser1314=)
n.1517C>A
c.3960C>A (p.Ser1320=)
n.4333C>A
n.1060C>A
c.3129C>A (p.Ser1043=)
c.2904C>A (p.Ser968=)
c.3999C>A (p.Ser1333=)
c.1972C>A
c.*1295C>A (n.*1295C>A)
n.4938C>A
n.3539C>A
c.4050C>A (p.Ser1350=)
c.4098C>A (p.Ser1366=)
c.4158C>A (p.Ser1386=)
c.3708C>A (p.Ser1236=)
c.2010C>A (p.Ser670=)
c.1827C>A (p.Ser609=)
c.4059C>A (p.Ser1353=)
c.4011C>A (p.Ser1337=)
c.3780C>A (p.Ser1260=)
c.3681C>A (p.Ser1227=)
c.2862C>A (p.Ser954=)
n.4413C>A
 ClinVar
13g.51934961G>ACA388019628ATP7Bc.*1843C>T (n.*1843C>T)
c.*2937C>T (n.*2937C>T)
c.3572C>T (p.Ser1191Phe)
c.4193C>T (p.Ser1398Phe)
c.3860C>T (p.Ser1287Phe)
c.3941C>T (p.Ser1314Phe)
n.1516C>T
c.3959C>T (p.Ser1320Phe)
n.4332C>T
n.1059C>T
c.3128C>T (p.Ser1043Phe)
c.2903C>T (p.Ser968Phe)
c.3998C>T (p.Ser1333Phe)
c.1971C>T
c.*1294C>T (n.*1294C>T)
n.4937C>T
n.3538C>T
c.4049C>T (p.Ser1350Phe)
c.4097C>T (p.Ser1366Phe)
c.4157C>T (p.Ser1386Phe)
c.3707C>T (p.Ser1236Phe)
c.2009C>T (p.Ser670Phe)
c.1826C>T (p.Ser609Phe)
c.4058C>T (p.Ser1353Phe)
c.4010C>T (p.Ser1337Phe)
c.3779C>T (p.Ser1260Phe)
c.3680C>T (p.Ser1227Phe)
c.2861C>T (p.Ser954Phe)
n.4412C>T
 dbSNP
13g.51934961G>CCA6988458ATP7Bc.*1843C>G (n.*1843C>G)
c.*2937C>G (n.*2937C>G)
c.3572C>G (p.Ser1191Cys)
c.4193C>G (p.Ser1398Cys)
c.3860C>G (p.Ser1287Cys)
c.3941C>G (p.Ser1314Cys)
n.1516C>G
c.3959C>G (p.Ser1320Cys)
n.4332C>G
n.1059C>G
c.3128C>G (p.Ser1043Cys)
c.2903C>G (p.Ser968Cys)
c.3998C>G (p.Ser1333Cys)
c.1971C>G
c.*1294C>G (n.*1294C>G)
n.4937C>G
n.3538C>G
c.4049C>G (p.Ser1350Cys)
c.4097C>G (p.Ser1366Cys)
c.4157C>G (p.Ser1386Cys)
c.3707C>G (p.Ser1236Cys)
c.2009C>G (p.Ser670Cys)
c.1826C>G (p.Ser609Cys)
c.4058C>G (p.Ser1353Cys)
c.4010C>G (p.Ser1337Cys)
c.3779C>G (p.Ser1260Cys)
c.3680C>G (p.Ser1227Cys)
c.2861C>G (p.Ser954Cys)
n.4412C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934961G=CA2091550498ATP7Bc.*1843C= (n.*1843C=)
c.*2937C= (n.*2937C=)
c.3572C= (p.Ser1191=)
c.4193C= (p.Ser1398=)
c.3860C= (p.Ser1287=)
c.3941C= (p.Ser1314=)
n.1516C=
c.3959C= (p.Ser1320=)
n.4332C=
n.1059C=
c.3128C= (p.Ser1043=)
c.2903C= (p.Ser968=)
c.3998C= (p.Ser1333=)
c.1971C=
c.*1294C= (n.*1294C=)
n.4937C=
n.3538C=
c.4049C= (p.Ser1350=)
c.4097C= (p.Ser1366=)
c.4157C= (p.Ser1386=)
c.3707C= (p.Ser1236=)
c.2009C= (p.Ser670=)
c.1826C= (p.Ser609=)
c.4058C= (p.Ser1353=)
c.4010C= (p.Ser1337=)
c.3779C= (p.Ser1260=)
c.3680C= (p.Ser1227=)
c.2861C= (p.Ser954=)
n.4412C=
13g.51934961G>TCA388019630ATP7Bc.*1843C>A (n.*1843C>A)
c.*2937C>A (n.*2937C>A)
c.3572C>A (p.Ser1191Tyr)
c.4193C>A (p.Ser1398Tyr)
c.3860C>A (p.Ser1287Tyr)
c.3941C>A (p.Ser1314Tyr)
n.1516C>A
c.3959C>A (p.Ser1320Tyr)
n.4332C>A
n.1059C>A
c.3128C>A (p.Ser1043Tyr)
c.2903C>A (p.Ser968Tyr)
c.3998C>A (p.Ser1333Tyr)
c.1971C>A
c.*1294C>A (n.*1294C>A)
n.4937C>A
n.3538C>A
c.4049C>A (p.Ser1350Tyr)
c.4097C>A (p.Ser1366Tyr)
c.4157C>A (p.Ser1386Tyr)
c.3707C>A (p.Ser1236Tyr)
c.2009C>A (p.Ser670Tyr)
c.1826C>A (p.Ser609Tyr)
c.4058C>A (p.Ser1353Tyr)
c.4010C>A (p.Ser1337Tyr)
c.3779C>A (p.Ser1260Tyr)
c.3680C>A (p.Ser1227Tyr)
c.2861C>A (p.Ser954Tyr)
n.4412C>A
13g.51934962A>CCA388019632ATP7Bc.*1842T>G (n.*1842T>G)
c.*2936T>G (n.*2936T>G)
c.3571T>G (p.Ser1191Ala)
c.4192T>G (p.Ser1398Ala)
c.3859T>G (p.Ser1287Ala)
c.3940T>G (p.Ser1314Ala)
n.1515T>G
c.3958T>G (p.Ser1320Ala)
n.4331T>G
n.1058T>G
c.3127T>G (p.Ser1043Ala)
c.2902T>G (p.Ser968Ala)
c.3997T>G (p.Ser1333Ala)
c.1970T>G
c.*1293T>G (n.*1293T>G)
n.4936T>G
n.3537T>G
c.4048T>G (p.Ser1350Ala)
c.4096T>G (p.Ser1366Ala)
c.4156T>G (p.Ser1386Ala)
c.3706T>G (p.Ser1236Ala)
c.2008T>G (p.Ser670Ala)
c.1825T>G (p.Ser609Ala)
c.4057T>G (p.Ser1353Ala)
c.4009T>G (p.Ser1337Ala)
c.3778T>G (p.Ser1260Ala)
c.3679T>G (p.Ser1227Ala)
c.2860T>G (p.Ser954Ala)
n.4411T>G
13g.51934962A>GCA388019634ATP7Bc.*1842T>C (n.*1842T>C)
c.*2936T>C (n.*2936T>C)
c.3571T>C (p.Ser1191Pro)
c.4192T>C (p.Ser1398Pro)
c.3859T>C (p.Ser1287Pro)
c.3940T>C (p.Ser1314Pro)
n.1515T>C
c.3958T>C (p.Ser1320Pro)
n.4331T>C
n.1058T>C
c.3127T>C (p.Ser1043Pro)
c.2902T>C (p.Ser968Pro)
c.3997T>C (p.Ser1333Pro)
c.1970T>C
c.*1293T>C (n.*1293T>C)
n.4936T>C
n.3537T>C
c.4048T>C (p.Ser1350Pro)
c.4096T>C (p.Ser1366Pro)
c.4156T>C (p.Ser1386Pro)
c.3706T>C (p.Ser1236Pro)
c.2008T>C (p.Ser670Pro)
c.1825T>C (p.Ser609Pro)
c.4057T>C (p.Ser1353Pro)
c.4009T>C (p.Ser1337Pro)
c.3778T>C (p.Ser1260Pro)
c.3679T>C (p.Ser1227Pro)
c.2860T>C (p.Ser954Pro)
n.4411T>C
13g.51934962A>TCA388019636ATP7Bc.*1842T>A (n.*1842T>A)
c.*2936T>A (n.*2936T>A)
c.3571T>A (p.Ser1191Thr)
c.4192T>A (p.Ser1398Thr)
c.3859T>A (p.Ser1287Thr)
c.3940T>A (p.Ser1314Thr)
n.1515T>A
c.3958T>A (p.Ser1320Thr)
n.4331T>A
n.1058T>A
c.3127T>A (p.Ser1043Thr)
c.2902T>A (p.Ser968Thr)
c.3997T>A (p.Ser1333Thr)
c.1970T>A
c.*1293T>A (n.*1293T>A)
n.4936T>A
n.3537T>A
c.4048T>A (p.Ser1350Thr)
c.4096T>A (p.Ser1366Thr)
c.4156T>A (p.Ser1386Thr)
c.3706T>A (p.Ser1236Thr)
c.2008T>A (p.Ser670Thr)
c.1825T>A (p.Ser609Thr)
c.4057T>A (p.Ser1353Thr)
c.4009T>A (p.Ser1337Thr)
c.3778T>A (p.Ser1260Thr)
c.3679T>A (p.Ser1227Thr)
c.2860T>A (p.Ser954Thr)
n.4411T>A
 ClinVar dbSNP
13g.51934963T>ACA484024201ATP7Bc.*1841A>T (n.*1841A>T)
c.*2935A>T (n.*2935A>T)
c.3570A>T (p.Ala1190=)
c.4191A>T (p.Ala1397=)
c.3858A>T (p.Ala1286=)
c.3939A>T (p.Ala1313=)
n.1514A>T
c.3957A>T (p.Ala1319=)
n.4330A>T
n.1057A>T
c.3126A>T (p.Ala1042=)
c.2901A>T (p.Ala967=)
c.3996A>T (p.Ala1332=)
c.1969A>T
c.*1292A>T (n.*1292A>T)
n.4935A>T
n.3536A>T
c.4047A>T (p.Ala1349=)
c.4095A>T (p.Ala1365=)
c.4155A>T (p.Ala1385=)
c.3705A>T (p.Ala1235=)
c.2007A>T (p.Ala669=)
c.1824A>T (p.Ala608=)
c.4056A>T (p.Ala1352=)
c.4008A>T (p.Ala1336=)
c.3777A>T (p.Ala1259=)
c.3678A>T (p.Ala1226=)
c.2859A>T (p.Ala953=)
n.4410A>T
13g.51934963T>CCA484024202ATP7Bc.*1841A>G (n.*1841A>G)
c.*2935A>G (n.*2935A>G)
c.3570A>G (p.Ala1190=)
c.4191A>G (p.Ala1397=)
c.3858A>G (p.Ala1286=)
c.3939A>G (p.Ala1313=)
n.1514A>G
c.3957A>G (p.Ala1319=)
n.4330A>G
n.1057A>G
c.3126A>G (p.Ala1042=)
c.2901A>G (p.Ala967=)
c.3996A>G (p.Ala1332=)
c.1969A>G
c.*1292A>G (n.*1292A>G)
n.4935A>G
n.3536A>G
c.4047A>G (p.Ala1349=)
c.4095A>G (p.Ala1365=)
c.4155A>G (p.Ala1385=)
c.3705A>G (p.Ala1235=)
c.2007A>G (p.Ala669=)
c.1824A>G (p.Ala608=)
c.4056A>G (p.Ala1352=)
c.4008A>G (p.Ala1336=)
c.3777A>G (p.Ala1259=)
c.3678A>G (p.Ala1226=)
c.2859A>G (p.Ala953=)
n.4410A>G
 gnomAD v4
13g.51934963T>GCA484024203ATP7Bc.*1841A>C (n.*1841A>C)
c.*2935A>C (n.*2935A>C)
c.3570A>C (p.Ala1190=)
c.4191A>C (p.Ala1397=)
c.3858A>C (p.Ala1286=)
c.3939A>C (p.Ala1313=)
n.1514A>C
c.3957A>C (p.Ala1319=)
n.4330A>C
n.1057A>C
c.3126A>C (p.Ala1042=)
c.2901A>C (p.Ala967=)
c.3996A>C (p.Ala1332=)
c.1969A>C
c.*1292A>C (n.*1292A>C)
n.4935A>C
n.3536A>C
c.4047A>C (p.Ala1349=)
c.4095A>C (p.Ala1365=)
c.4155A>C (p.Ala1385=)
c.3705A>C (p.Ala1235=)
c.2007A>C (p.Ala669=)
c.1824A>C (p.Ala608=)
c.4056A>C (p.Ala1352=)
c.4008A>C (p.Ala1336=)
c.3777A>C (p.Ala1259=)
c.3678A>C (p.Ala1226=)
c.2859A>C (p.Ala953=)
n.4410A>C
13g.51934964G>ACA388019639ATP7Bc.*1840C>T (n.*1840C>T)
c.*2934C>T (n.*2934C>T)
c.3569C>T (p.Ala1190Val)
c.4190C>T (p.Ala1397Val)
c.3857C>T (p.Ala1286Val)
c.3938C>T (p.Ala1313Val)
n.1513C>T
c.3956C>T (p.Ala1319Val)
n.4329C>T
n.1056C>T
c.3125C>T (p.Ala1042Val)
c.2900C>T (p.Ala967Val)
c.3995C>T (p.Ala1332Val)
c.1968C>T
c.*1291C>T (n.*1291C>T)
n.4934C>T
n.3535C>T
c.4046C>T (p.Ala1349Val)
c.4094C>T (p.Ala1365Val)
c.4154C>T (p.Ala1385Val)
c.3704C>T (p.Ala1235Val)
c.2006C>T (p.Ala669Val)
c.1823C>T (p.Ala608Val)
c.4055C>T (p.Ala1352Val)
c.4007C>T (p.Ala1336Val)
c.3776C>T (p.Ala1259Val)
c.3677C>T (p.Ala1226Val)
c.2858C>T (p.Ala953Val)
n.4409C>T
 gnomAD v2 gnomAD v4
13g.51934964G>CCA388019637ATP7Bc.*1840C>G (n.*1840C>G)
c.*2934C>G (n.*2934C>G)
c.3569C>G (p.Ala1190Gly)
c.4190C>G (p.Ala1397Gly)
c.3857C>G (p.Ala1286Gly)
c.3938C>G (p.Ala1313Gly)
n.1513C>G
c.3956C>G (p.Ala1319Gly)
n.4329C>G
n.1056C>G
c.3125C>G (p.Ala1042Gly)
c.2900C>G (p.Ala967Gly)
c.3995C>G (p.Ala1332Gly)
c.1968C>G
c.*1291C>G (n.*1291C>G)
n.4934C>G
n.3535C>G
c.4046C>G (p.Ala1349Gly)
c.4094C>G (p.Ala1365Gly)
c.4154C>G (p.Ala1385Gly)
c.3704C>G (p.Ala1235Gly)
c.2006C>G (p.Ala669Gly)
c.1823C>G (p.Ala608Gly)
c.4055C>G (p.Ala1352Gly)
c.4007C>G (p.Ala1336Gly)
c.3776C>G (p.Ala1259Gly)
c.3677C>G (p.Ala1226Gly)
c.2858C>G (p.Ala953Gly)
n.4409C>G
13g.51934964G>TCA388019638ATP7Bc.*1840C>A (n.*1840C>A)
c.*2934C>A (n.*2934C>A)
c.3569C>A (p.Ala1190Glu)
c.4190C>A (p.Ala1397Glu)
c.3857C>A (p.Ala1286Glu)
c.3938C>A (p.Ala1313Glu)
n.1513C>A
c.3956C>A (p.Ala1319Glu)
n.4329C>A
n.1056C>A
c.3125C>A (p.Ala1042Glu)
c.2900C>A (p.Ala967Glu)
c.3995C>A (p.Ala1332Glu)
c.1968C>A
c.*1291C>A (n.*1291C>A)
n.4934C>A
n.3535C>A
c.4046C>A (p.Ala1349Glu)
c.4094C>A (p.Ala1365Glu)
c.4154C>A (p.Ala1385Glu)
c.3704C>A (p.Ala1235Glu)
c.2006C>A (p.Ala669Glu)
c.1823C>A (p.Ala608Glu)
c.4055C>A (p.Ala1352Glu)
c.4007C>A (p.Ala1336Glu)
c.3776C>A (p.Ala1259Glu)
c.3677C>A (p.Ala1226Glu)
c.2858C>A (p.Ala953Glu)
n.4409C>A
 gnomAD v4
13g.51934965C>ACA388019641ATP7Bc.*1839G>T (n.*1839G>T)
c.*2933G>T (n.*2933G>T)
c.3568G>T (p.Ala1190Ser)
c.4189G>T (p.Ala1397Ser)
c.3856G>T (p.Ala1286Ser)
c.3937G>T (p.Ala1313Ser)
n.1512G>T
c.3955G>T (p.Ala1319Ser)
n.4328G>T
n.1055G>T
c.3124G>T (p.Ala1042Ser)
c.2899G>T (p.Ala967Ser)
c.3994G>T (p.Ala1332Ser)
c.1967G>T
c.*1290G>T (n.*1290G>T)
n.4933G>T
n.3534G>T
c.4045G>T (p.Ala1349Ser)
c.4093G>T (p.Ala1365Ser)
c.4153G>T (p.Ala1385Ser)
c.3703G>T (p.Ala1235Ser)
c.2005G>T (p.Ala669Ser)
c.1822G>T (p.Ala608Ser)
c.4054G>T (p.Ala1352Ser)
c.4006G>T (p.Ala1336Ser)
c.3775G>T (p.Ala1259Ser)
c.3676G>T (p.Ala1226Ser)
c.2857G>T (p.Ala953Ser)
n.4408G>T
13g.51934965C=CA2091550501ATP7Bc.*1839G= (n.*1839G=)
c.*2933G= (n.*2933G=)
c.3568G= (p.Ala1190=)
c.4189G= (p.Ala1397=)
c.3856G= (p.Ala1286=)
c.3937G= (p.Ala1313=)
n.1512G=
c.3955G= (p.Ala1319=)
n.4328G=
n.1055G=
c.3124G= (p.Ala1042=)
c.2899G= (p.Ala967=)
c.3994G= (p.Ala1332=)
c.1967G=
c.*1290G= (n.*1290G=)
n.4933G=
n.3534G=
c.4045G= (p.Ala1349=)
c.4093G= (p.Ala1365=)
c.4153G= (p.Ala1385=)
c.3703G= (p.Ala1235=)
c.2005G= (p.Ala669=)
c.1822G= (p.Ala608=)
c.4054G= (p.Ala1352=)
c.4006G= (p.Ala1336=)
c.3775G= (p.Ala1259=)
c.3676G= (p.Ala1226=)
c.2857G= (p.Ala953=)
n.4408G=
13g.51934965C>GCA388019642ATP7Bc.*1839G>C (n.*1839G>C)
c.*2933G>C (n.*2933G>C)
c.3568G>C (p.Ala1190Pro)
c.4189G>C (p.Ala1397Pro)
c.3856G>C (p.Ala1286Pro)
c.3937G>C (p.Ala1313Pro)
n.1512G>C
c.3955G>C (p.Ala1319Pro)
n.4328G>C
n.1055G>C
c.3124G>C (p.Ala1042Pro)
c.2899G>C (p.Ala967Pro)
c.3994G>C (p.Ala1332Pro)
c.1967G>C
c.*1290G>C (n.*1290G>C)
n.4933G>C
n.3534G>C
c.4045G>C (p.Ala1349Pro)
c.4093G>C (p.Ala1365Pro)
c.4153G>C (p.Ala1385Pro)
c.3703G>C (p.Ala1235Pro)
c.2005G>C (p.Ala669Pro)
c.1822G>C (p.Ala608Pro)
c.4054G>C (p.Ala1352Pro)
c.4006G>C (p.Ala1336Pro)
c.3775G>C (p.Ala1259Pro)
c.3676G>C (p.Ala1226Pro)
c.2857G>C (p.Ala953Pro)
n.4408G>C
13g.51934965C>TCA388019643ATP7Bc.*1839G>A (n.*1839G>A)
c.*2933G>A (n.*2933G>A)
c.3568G>A (p.Ala1190Thr)
c.4189G>A (p.Ala1397Thr)
c.3856G>A (p.Ala1286Thr)
c.3937G>A (p.Ala1313Thr)
n.1512G>A
c.3955G>A (p.Ala1319Thr)
n.4328G>A
n.1055G>A
c.3124G>A (p.Ala1042Thr)
c.2899G>A (p.Ala967Thr)
c.3994G>A (p.Ala1332Thr)
c.1967G>A
c.*1290G>A (n.*1290G>A)
n.4933G>A
n.3534G>A
c.4045G>A (p.Ala1349Thr)
c.4093G>A (p.Ala1365Thr)
c.4153G>A (p.Ala1385Thr)
c.3703G>A (p.Ala1235Thr)
c.2005G>A (p.Ala669Thr)
c.1822G>A (p.Ala608Thr)
c.4054G>A (p.Ala1352Thr)
c.4006G>A (p.Ala1336Thr)
c.3775G>A (p.Ala1259Thr)
c.3676G>A (p.Ala1226Thr)
c.2857G>A (p.Ala953Thr)
n.4408G>A
 dbSNP gnomAD v2 gnomAD v4
13g.51934966C>ACA484024204ATP7Bc.*1838G>T (n.*1838G>T)
c.*2932G>T (n.*2932G>T)
c.3567G>T (p.Thr1189=)
c.4188G>T (p.Thr1396=)
c.3855G>T (p.Thr1285=)
c.3936G>T (p.Thr1312=)
n.1511G>T
c.3954G>T (p.Thr1318=)
n.4327G>T
n.1054G>T
c.3123G>T (p.Thr1041=)
c.2898G>T (p.Thr966=)
c.3993G>T (p.Thr1331=)
c.1966G>T
c.*1289G>T (n.*1289G>T)
n.4932G>T
n.3533G>T
c.4044G>T (p.Thr1348=)
c.4092G>T (p.Thr1364=)
c.4152G>T (p.Thr1384=)
c.3702G>T (p.Thr1234=)
c.2004G>T (p.Thr668=)
c.1821G>T (p.Thr607=)
c.4053G>T (p.Thr1351=)
c.4005G>T (p.Thr1335=)
c.3774G>T (p.Thr1258=)
c.3675G>T (p.Thr1225=)
c.2856G>T (p.Thr952=)
n.4407G>T
13g.51934966C=CA2091550505ATP7Bc.*1838G= (n.*1838G=)
c.*2932G= (n.*2932G=)
c.3567G= (p.Thr1189=)
c.4188G= (p.Thr1396=)
c.3855G= (p.Thr1285=)
c.3936G= (p.Thr1312=)
n.1511G=
c.3954G= (p.Thr1318=)
n.4327G=
n.1054G=
c.3123G= (p.Thr1041=)
c.2898G= (p.Thr966=)
c.3993G= (p.Thr1331=)
c.1966G=
c.*1289G= (n.*1289G=)
n.4932G=
n.3533G=
c.4044G= (p.Thr1348=)
c.4092G= (p.Thr1364=)
c.4152G= (p.Thr1384=)
c.3702G= (p.Thr1234=)
c.2004G= (p.Thr668=)
c.1821G= (p.Thr607=)
c.4053G= (p.Thr1351=)
c.4005G= (p.Thr1335=)
c.3774G= (p.Thr1258=)
c.3675G= (p.Thr1225=)
c.2856G= (p.Thr952=)
n.4407G=
13g.51934966C>GCA484024205ATP7Bc.*1838G>C (n.*1838G>C)
c.*2932G>C (n.*2932G>C)
c.3567G>C (p.Thr1189=)
c.4188G>C (p.Thr1396=)
c.3855G>C (p.Thr1285=)
c.3936G>C (p.Thr1312=)
n.1511G>C
c.3954G>C (p.Thr1318=)
n.4327G>C
n.1054G>C
c.3123G>C (p.Thr1041=)
c.2898G>C (p.Thr966=)
c.3993G>C (p.Thr1331=)
c.1966G>C
c.*1289G>C (n.*1289G>C)
n.4932G>C
n.3533G>C
c.4044G>C (p.Thr1348=)
c.4092G>C (p.Thr1364=)
c.4152G>C (p.Thr1384=)
c.3702G>C (p.Thr1234=)
c.2004G>C (p.Thr668=)
c.1821G>C (p.Thr607=)
c.4053G>C (p.Thr1351=)
c.4005G>C (p.Thr1335=)
c.3774G>C (p.Thr1258=)
c.3675G>C (p.Thr1225=)
c.2856G>C (p.Thr952=)
n.4407G>C
13g.51934966C>TCA6988459ATP7Bc.*1838G>A (n.*1838G>A)
c.*2932G>A (n.*2932G>A)
c.3567G>A (p.Thr1189=)
c.4188G>A (p.Thr1396=)
c.3855G>A (p.Thr1285=)
c.3936G>A (p.Thr1312=)
n.1511G>A
c.3954G>A (p.Thr1318=)
n.4327G>A
n.1054G>A
c.3123G>A (p.Thr1041=)
c.2898G>A (p.Thr966=)
c.3993G>A (p.Thr1331=)
c.1966G>A
c.*1289G>A (n.*1289G>A)
n.4932G>A
n.3533G>A
c.4044G>A (p.Thr1348=)
c.4092G>A (p.Thr1364=)
c.4152G>A (p.Thr1384=)
c.3702G>A (p.Thr1234=)
c.2004G>A (p.Thr668=)
c.1821G>A (p.Thr607=)
c.4053G>A (p.Thr1351=)
c.4005G>A (p.Thr1335=)
c.3774G>A (p.Thr1258=)
c.3675G>A (p.Thr1225=)
c.2856G>A (p.Thr952=)
n.4407G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51934967G>ACA250071700ATP7Bc.*1837C>T (n.*1837C>T)
c.*2931C>T (n.*2931C>T)
c.3566C>T (p.Thr1189Met)
c.4187C>T (p.Thr1396Met)
c.3854C>T (p.Thr1285Met)
c.3935C>T (p.Thr1312Met)
n.1510C>T
c.3953C>T (p.Thr1318Met)
n.4326C>T
n.1053C>T
c.3122C>T (p.Thr1041Met)
c.2897C>T (p.Thr966Met)
c.3992C>T (p.Thr1331Met)
c.1965C>T
c.*1288C>T (n.*1288C>T)
n.4931C>T
n.3532C>T
c.4043C>T (p.Thr1348Met)
c.4091C>T (p.Thr1364Met)
c.4151C>T (p.Thr1384Met)
c.3701C>T (p.Thr1234Met)
c.2003C>T (p.Thr668Met)
c.1820C>T (p.Thr607Met)
c.4052C>T (p.Thr1351Met)
c.4004C>T (p.Thr1335Met)
c.3773C>T (p.Thr1258Met)
c.3674C>T (p.Thr1225Met)
c.2855C>T (p.Thr952Met)
n.4406C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51934967G>CCA388019646ATP7Bc.*1837C>G (n.*1837C>G)
c.*2931C>G (n.*2931C>G)
c.3566C>G (p.Thr1189Arg)
c.4187C>G (p.Thr1396Arg)
c.3854C>G (p.Thr1285Arg)
c.3935C>G (p.Thr1312Arg)
n.1510C>G
c.3953C>G (p.Thr1318Arg)
n.4326C>G
n.1053C>G
c.3122C>G (p.Thr1041Arg)
c.2897C>G (p.Thr966Arg)
c.3992C>G (p.Thr1331Arg)
c.1965C>G
c.*1288C>G (n.*1288C>G)
n.4931C>G
n.3532C>G
c.4043C>G (p.Thr1348Arg)
c.4091C>G (p.Thr1364Arg)
c.4151C>G (p.Thr1384Arg)
c.3701C>G (p.Thr1234Arg)
c.2003C>G (p.Thr668Arg)
c.1820C>G (p.Thr607Arg)
c.4052C>G (p.Thr1351Arg)
c.4004C>G (p.Thr1335Arg)
c.3773C>G (p.Thr1258Arg)
c.3674C>G (p.Thr1225Arg)
c.2855C>G (p.Thr952Arg)
n.4406C>G
 COSMIC
13g.51934967G=CA2091550509ATP7Bc.*1837C= (n.*1837C=)
c.*2931C= (n.*2931C=)
c.3566C= (p.Thr1189=)
c.4187C= (p.Thr1396=)
c.3854C= (p.Thr1285=)
c.3935C= (p.Thr1312=)
n.1510C=
c.3953C= (p.Thr1318=)
n.4326C=
n.1053C=
c.3122C= (p.Thr1041=)
c.2897C= (p.Thr966=)
c.3992C= (p.Thr1331=)
c.1965C=
c.*1288C= (n.*1288C=)
n.4931C=
n.3532C=
c.4043C= (p.Thr1348=)
c.4091C= (p.Thr1364=)
c.4151C= (p.Thr1384=)
c.3701C= (p.Thr1234=)
c.2003C= (p.Thr668=)
c.1820C= (p.Thr607=)
c.4052C= (p.Thr1351=)
c.4004C= (p.Thr1335=)
c.3773C= (p.Thr1258=)
c.3674C= (p.Thr1225=)
c.2855C= (p.Thr952=)
n.4406C=
13g.51934967G>TCA388019648ATP7Bc.*1837C>A (n.*1837C>A)
c.*2931C>A (n.*2931C>A)
c.3566C>A (p.Thr1189Lys)
c.4187C>A (p.Thr1396Lys)
c.3854C>A (p.Thr1285Lys)
c.3935C>A (p.Thr1312Lys)
n.1510C>A
c.3953C>A (p.Thr1318Lys)
n.4326C>A
n.1053C>A
c.3122C>A (p.Thr1041Lys)
c.2897C>A (p.Thr966Lys)
c.3992C>A (p.Thr1331Lys)
c.1965C>A
c.*1288C>A (n.*1288C>A)
n.4931C>A
n.3532C>A
c.4043C>A (p.Thr1348Lys)
c.4091C>A (p.Thr1364Lys)
c.4151C>A (p.Thr1384Lys)
c.3701C>A (p.Thr1234Lys)
c.2003C>A (p.Thr668Lys)
c.1820C>A (p.Thr607Lys)
c.4052C>A (p.Thr1351Lys)
c.4004C>A (p.Thr1335Lys)
c.3773C>A (p.Thr1258Lys)
c.3674C>A (p.Thr1225Lys)
c.2855C>A (p.Thr952Lys)
n.4406C>A
 dbSNP gnomAD v4
13g.51934968T>ACA388019650ATP7Bc.*1836A>T (n.*1836A>T)
c.*2930A>T (n.*2930A>T)
c.3565A>T (p.Thr1189Ser)
c.4186A>T (p.Thr1396Ser)
c.3853A>T (p.Thr1285Ser)
c.3934A>T (p.Thr1312Ser)
n.1509A>T
c.3952A>T (p.Thr1318Ser)
n.4325A>T
n.1052A>T
c.3121A>T (p.Thr1041Ser)
c.2896A>T (p.Thr966Ser)
c.3991A>T (p.Thr1331Ser)
c.1964A>T
c.*1287A>T (n.*1287A>T)
n.4930A>T
n.3531A>T
c.4042A>T (p.Thr1348Ser)
c.4090A>T (p.Thr1364Ser)
c.4150A>T (p.Thr1384Ser)
c.3700A>T (p.Thr1234Ser)
c.2002A>T (p.Thr668Ser)
c.1819A>T (p.Thr607Ser)
c.4051A>T (p.Thr1351Ser)
c.4003A>T (p.Thr1335Ser)
c.3772A>T (p.Thr1258Ser)
c.3673A>T (p.Thr1225Ser)
c.2854A>T (p.Thr952Ser)
n.4405A>T
13g.51934968T>CCA388019652ATP7Bc.*1836A>G (n.*1836A>G)
c.*2930A>G (n.*2930A>G)
c.3565A>G (p.Thr1189Ala)
c.4186A>G (p.Thr1396Ala)
c.3853A>G (p.Thr1285Ala)
c.3934A>G (p.Thr1312Ala)
n.1509A>G
c.3952A>G (p.Thr1318Ala)
n.4325A>G
n.1052A>G
c.3121A>G (p.Thr1041Ala)
c.2896A>G (p.Thr966Ala)
c.3991A>G (p.Thr1331Ala)
c.1964A>G
c.*1287A>G (n.*1287A>G)
n.4930A>G
n.3531A>G
c.4042A>G (p.Thr1348Ala)
c.4090A>G (p.Thr1364Ala)
c.4150A>G (p.Thr1384Ala)
c.3700A>G (p.Thr1234Ala)
c.2002A>G (p.Thr668Ala)
c.1819A>G (p.Thr607Ala)
c.4051A>G (p.Thr1351Ala)
c.4003A>G (p.Thr1335Ala)
c.3772A>G (p.Thr1258Ala)
c.3673A>G (p.Thr1225Ala)
c.2854A>G (p.Thr952Ala)
n.4405A>G
13g.51934968T>GCA388019654ATP7Bc.*1836A>C (n.*1836A>C)
c.*2930A>C (n.*2930A>C)
c.3565A>C (p.Thr1189Pro)
c.4186A>C (p.Thr1396Pro)
c.3853A>C (p.Thr1285Pro)
c.3934A>C (p.Thr1312Pro)
n.1509A>C
c.3952A>C (p.Thr1318Pro)
n.4325A>C
n.1052A>C
c.3121A>C (p.Thr1041Pro)
c.2896A>C (p.Thr966Pro)
c.3991A>C (p.Thr1331Pro)
c.1964A>C
c.*1287A>C (n.*1287A>C)
n.4930A>C
n.3531A>C
c.4042A>C (p.Thr1348Pro)
c.4090A>C (p.Thr1364Pro)
c.4150A>C (p.Thr1384Pro)
c.3700A>C (p.Thr1234Pro)
c.2002A>C (p.Thr668Pro)
c.1819A>C (p.Thr607Pro)
c.4051A>C (p.Thr1351Pro)
c.4003A>C (p.Thr1335Pro)
c.3772A>C (p.Thr1258Pro)
c.3673A>C (p.Thr1225Pro)
c.2854A>C (p.Thr952Pro)
n.4405A>C
13g.51934969C>ACA484024206ATP7Bc.*1835G>T (n.*1835G>T)
c.*2929G>T (n.*2929G>T)
c.3564G>T (p.Leu1188=)
c.4185G>T (p.Leu1395=)
c.3852G>T (p.Leu1284=)
c.3933G>T (p.Leu1311=)
n.1508G>T
c.3951G>T (p.Leu1317=)
n.4324G>T
n.1051G>T
c.3120G>T (p.Leu1040=)
c.2895G>T (p.Leu965=)
c.3990G>T (p.Leu1330=)
c.1963G>T
c.*1286G>T (n.*1286G>T)
n.4929G>T
n.3530G>T
c.4041G>T (p.Leu1347=)
c.4089G>T (p.Leu1363=)
c.4149G>T (p.Leu1383=)
c.3699G>T (p.Leu1233=)
c.2001G>T (p.Leu667=)
c.1818G>T (p.Leu606=)
c.4050G>T (p.Leu1350=)
c.4002G>T (p.Leu1334=)
c.3771G>T (p.Leu1257=)
c.3672G>T (p.Leu1224=)
c.2853G>T (p.Leu951=)
n.4404G>T
 dbSNP
13g.51934969C=CA2091550515ATP7Bc.*1835G= (n.*1835G=)
c.*2929G= (n.*2929G=)
c.3564G= (p.Leu1188=)
c.4185G= (p.Leu1395=)
c.3852G= (p.Leu1284=)
c.3933G= (p.Leu1311=)
n.1508G=
c.3951G= (p.Leu1317=)
n.4324G=
n.1051G=
c.3120G= (p.Leu1040=)
c.2895G= (p.Leu965=)
c.3990G= (p.Leu1330=)
c.1963G=
c.*1286G= (n.*1286G=)
n.4929G=
n.3530G=
c.4041G= (p.Leu1347=)
c.4089G= (p.Leu1363=)
c.4149G= (p.Leu1383=)
c.3699G= (p.Leu1233=)
c.2001G= (p.Leu667=)
c.1818G= (p.Leu606=)
c.4050G= (p.Leu1350=)
c.4002G= (p.Leu1334=)
c.3771G= (p.Leu1257=)
c.3672G= (p.Leu1224=)
c.2853G= (p.Leu951=)
n.4404G=
13g.51934969C>GCA10644746ATP7Bc.*1835G>C (n.*1835G>C)
c.*2929G>C (n.*2929G>C)
c.3564G>C (p.Leu1188=)
c.4185G>C (p.Leu1395=)
c.3852G>C (p.Leu1284=)
c.3933G>C (p.Leu1311=)
n.1508G>C
c.3951G>C (p.Leu1317=)
n.4324G>C
n.1051G>C
c.3120G>C (p.Leu1040=)
c.2895G>C (p.Leu965=)
c.3990G>C (p.Leu1330=)
c.1963G>C
c.*1286G>C (n.*1286G>C)
n.4929G>C
n.3530G>C
c.4041G>C (p.Leu1347=)
c.4089G>C (p.Leu1363=)
c.4149G>C (p.Leu1383=)
c.3699G>C (p.Leu1233=)
c.2001G>C (p.Leu667=)
c.1818G>C (p.Leu606=)
c.4050G>C (p.Leu1350=)
c.4002G>C (p.Leu1334=)
c.3771G>C (p.Leu1257=)
c.3672G>C (p.Leu1224=)
c.2853G>C (p.Leu951=)
n.4404G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51934969C>TCA6988460ATP7Bc.*1835G>A (n.*1835G>A)
c.*2929G>A (n.*2929G>A)
c.3564G>A (p.Leu1188=)
c.4185G>A (p.Leu1395=)
c.3852G>A (p.Leu1284=)
c.3933G>A (p.Leu1311=)
n.1508G>A
c.3951G>A (p.Leu1317=)
n.4324G>A
n.1051G>A
c.3120G>A (p.Leu1040=)
c.2895G>A (p.Leu965=)
c.3990G>A (p.Leu1330=)
c.1963G>A
c.*1286G>A (n.*1286G>A)
n.4929G>A
n.3530G>A
c.4041G>A (p.Leu1347=)
c.4089G>A (p.Leu1363=)
c.4149G>A (p.Leu1383=)
c.3699G>A (p.Leu1233=)
c.2001G>A (p.Leu667=)
c.1818G>A (p.Leu606=)
c.4050G>A (p.Leu1350=)
c.4002G>A (p.Leu1334=)
c.3771G>A (p.Leu1257=)
c.3672G>A (p.Leu1224=)
c.2853G>A (p.Leu951=)
n.4404G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934970A>CCA388019660ATP7Bc.*1834T>G (n.*1834T>G)
c.*2928T>G (n.*2928T>G)
c.3563T>G (p.Leu1188Arg)
c.4184T>G (p.Leu1395Arg)
c.3851T>G (p.Leu1284Arg)
c.3932T>G (p.Leu1311Arg)
n.1507T>G
c.3950T>G (p.Leu1317Arg)
n.4323T>G
n.1050T>G
c.3119T>G (p.Leu1040Arg)
c.2894T>G (p.Leu965Arg)
c.3989T>G (p.Leu1330Arg)
c.1962T>G
c.*1285T>G (n.*1285T>G)
n.4928T>G
n.3529T>G
c.4040T>G (p.Leu1347Arg)
c.4088T>G (p.Leu1363Arg)
c.4148T>G (p.Leu1383Arg)
c.3698T>G (p.Leu1233Arg)
c.2000T>G (p.Leu667Arg)
c.1817T>G (p.Leu606Arg)
c.4049T>G (p.Leu1350Arg)
c.4001T>G (p.Leu1334Arg)
c.3770T>G (p.Leu1257Arg)
c.3671T>G (p.Leu1224Arg)
c.2852T>G (p.Leu951Arg)
n.4403T>G
13g.51934970A>GCA388019657ATP7Bc.*1834T>C (n.*1834T>C)
c.*2928T>C (n.*2928T>C)
c.3563T>C (p.Leu1188Pro)
c.4184T>C (p.Leu1395Pro)
c.3851T>C (p.Leu1284Pro)
c.3932T>C (p.Leu1311Pro)
n.1507T>C
c.3950T>C (p.Leu1317Pro)
n.4323T>C
n.1050T>C
c.3119T>C (p.Leu1040Pro)
c.2894T>C (p.Leu965Pro)
c.3989T>C (p.Leu1330Pro)
c.1962T>C
c.*1285T>C (n.*1285T>C)
n.4928T>C
n.3529T>C
c.4040T>C (p.Leu1347Pro)
c.4088T>C (p.Leu1363Pro)
c.4148T>C (p.Leu1383Pro)
c.3698T>C (p.Leu1233Pro)
c.2000T>C (p.Leu667Pro)
c.1817T>C (p.Leu606Pro)
c.4049T>C (p.Leu1350Pro)
c.4001T>C (p.Leu1334Pro)
c.3770T>C (p.Leu1257Pro)
c.3671T>C (p.Leu1224Pro)
c.2852T>C (p.Leu951Pro)
n.4403T>C
13g.51934970A>TCA388019658ATP7Bc.*1834T>A (n.*1834T>A)
c.*2928T>A (n.*2928T>A)
c.3563T>A (p.Leu1188Gln)
c.4184T>A (p.Leu1395Gln)
c.3851T>A (p.Leu1284Gln)
c.3932T>A (p.Leu1311Gln)
n.1507T>A
c.3950T>A (p.Leu1317Gln)
n.4323T>A
n.1050T>A
c.3119T>A (p.Leu1040Gln)
c.2894T>A (p.Leu965Gln)
c.3989T>A (p.Leu1330Gln)
c.1962T>A
c.*1285T>A (n.*1285T>A)
n.4928T>A
n.3529T>A
c.4040T>A (p.Leu1347Gln)
c.4088T>A (p.Leu1363Gln)
c.4148T>A (p.Leu1383Gln)
c.3698T>A (p.Leu1233Gln)
c.2000T>A (p.Leu667Gln)
c.1817T>A (p.Leu606Gln)
c.4049T>A (p.Leu1350Gln)
c.4001T>A (p.Leu1334Gln)
c.3770T>A (p.Leu1257Gln)
c.3671T>A (p.Leu1224Gln)
c.2852T>A (p.Leu951Gln)
n.4403T>A
13g.51934971G>ACA484024207ATP7Bc.*1833C>T (n.*1833C>T)
c.*2927C>T (n.*2927C>T)
c.3562C>T (p.Leu1188=)
c.4183C>T (p.Leu1395=)
c.3850C>T (p.Leu1284=)
c.3931C>T (p.Leu1311=)
n.1506C>T
c.3949C>T (p.Leu1317=)
n.4322C>T
n.1049C>T
c.3118C>T (p.Leu1040=)
c.2893C>T (p.Leu965=)
c.3988C>T (p.Leu1330=)
c.1961C>T
c.*1284C>T (n.*1284C>T)
n.4927C>T
n.3528C>T
c.4039C>T (p.Leu1347=)
c.4087C>T (p.Leu1363=)
c.4147C>T (p.Leu1383=)
c.3697C>T (p.Leu1233=)
c.1999C>T (p.Leu667=)
c.1816C>T (p.Leu606=)
c.4048C>T (p.Leu1350=)
c.4000C>T (p.Leu1334=)
c.3769C>T (p.Leu1257=)
c.3670C>T (p.Leu1224=)
c.2851C>T (p.Leu951=)
n.4402C>T
 dbSNP gnomAD v4
13g.51934971G>CCA388019661ATP7Bc.*1833C>G (n.*1833C>G)
c.*2927C>G (n.*2927C>G)
c.3562C>G (p.Leu1188Val)
c.4183C>G (p.Leu1395Val)
c.3850C>G (p.Leu1284Val)
c.3931C>G (p.Leu1311Val)
n.1506C>G
c.3949C>G (p.Leu1317Val)
n.4322C>G
n.1049C>G
c.3118C>G (p.Leu1040Val)
c.2893C>G (p.Leu965Val)
c.3988C>G (p.Leu1330Val)
c.1961C>G
c.*1284C>G (n.*1284C>G)
n.4927C>G
n.3528C>G
c.4039C>G (p.Leu1347Val)
c.4087C>G (p.Leu1363Val)
c.4147C>G (p.Leu1383Val)
c.3697C>G (p.Leu1233Val)
c.1999C>G (p.Leu667Val)
c.1816C>G (p.Leu606Val)
c.4048C>G (p.Leu1350Val)
c.4000C>G (p.Leu1334Val)
c.3769C>G (p.Leu1257Val)
c.3670C>G (p.Leu1224Val)
c.2851C>G (p.Leu951Val)
n.4402C>G
13g.51934971G=CA2091550521ATP7Bc.*1833C= (n.*1833C=)
c.*2927C= (n.*2927C=)
c.3562C= (p.Leu1188=)
c.4183C= (p.Leu1395=)
c.3850C= (p.Leu1284=)
c.3931C= (p.Leu1311=)
n.1506C=
c.3949C= (p.Leu1317=)
n.4322C=
n.1049C=
c.3118C= (p.Leu1040=)
c.2893C= (p.Leu965=)
c.3988C= (p.Leu1330=)
c.1961C=
c.*1284C= (n.*1284C=)
n.4927C=
n.3528C=
c.4039C= (p.Leu1347=)
c.4087C= (p.Leu1363=)
c.4147C= (p.Leu1383=)
c.3697C= (p.Leu1233=)
c.1999C= (p.Leu667=)
c.1816C= (p.Leu606=)
c.4048C= (p.Leu1350=)
c.4000C= (p.Leu1334=)
c.3769C= (p.Leu1257=)
c.3670C= (p.Leu1224=)
c.2851C= (p.Leu951=)
n.4402C=
13g.51934971G>TCA388019663ATP7Bc.*1833C>A (n.*1833C>A)
c.*2927C>A (n.*2927C>A)
c.3562C>A (p.Leu1188Met)
c.4183C>A (p.Leu1395Met)
c.3850C>A (p.Leu1284Met)
c.3931C>A (p.Leu1311Met)
n.1506C>A
c.3949C>A (p.Leu1317Met)
n.4322C>A
n.1049C>A
c.3118C>A (p.Leu1040Met)
c.2893C>A (p.Leu965Met)
c.3988C>A (p.Leu1330Met)
c.1961C>A
c.*1284C>A (n.*1284C>A)
n.4927C>A
n.3528C>A
c.4039C>A (p.Leu1347Met)
c.4087C>A (p.Leu1363Met)
c.4147C>A (p.Leu1383Met)
c.3697C>A (p.Leu1233Met)
c.1999C>A (p.Leu667Met)
c.1816C>A (p.Leu606Met)
c.4048C>A (p.Leu1350Met)
c.4000C>A (p.Leu1334Met)
c.3769C>A (p.Leu1257Met)
c.3670C>A (p.Leu1224Met)
c.2851C>A (p.Leu951Met)
n.4402C>A
13g.51934974dupCA2695218704ATP7Bc.*1833dup (n.*1833dup)
c.*2927dup (n.*2927dup)
c.3562dup (p.Leu1188ProfsTer14)
c.4183dup (p.Leu1395ProfsTer14)
c.3850dup (p.Leu1284ProfsTer14)
c.3931dup (p.Leu1311ProfsTer14)
n.1506dup
c.3949dup (p.Leu1317ProfsTer14)
n.4322dup
n.1049dup
c.3118dup (p.Leu1040ProfsTer14)
c.2893dup (p.Leu965ProfsTer14)
c.3988dup (p.Leu1330ProfsTer14)
c.1961dup
c.*1284dup (n.*1284dup)
n.4927dup
n.3528dup
c.4039dup (p.Leu1347ProfsTer14)
c.4087dup (p.Leu1363ProfsTer14)
c.4147dup (p.Leu1383ProfsTer14)
c.3697dup (p.Leu1233ProfsTer14)
c.1999dup (p.Leu667ProfsTer14)
c.1816dup (p.Leu606ProfsTer14)
c.4048dup (p.Leu1350ProfsTer14)
c.4000dup (p.Leu1334ProfsTer14)
c.3769dup (p.Leu1257ProfsTer14)
c.3670dup (p.Leu1224ProfsTer14)
c.2851dup (p.Leu951ProfsTer14)
n.4402dup
13g.51934972G>ACA484024208ATP7Bc.*1832C>T (n.*1832C>T)
c.*2926C>T (n.*2926C>T)
c.3561C>T (p.Pro1187=)
c.4182C>T (p.Pro1394=)
c.3849C>T (p.Pro1283=)
c.3930C>T (p.Pro1310=)
n.1505C>T
c.3948C>T (p.Pro1316=)
n.4321C>T
n.1048C>T
c.3117C>T (p.Pro1039=)
c.2892C>T (p.Pro964=)
c.3987C>T (p.Pro1329=)
c.1960C>T
c.*1283C>T (n.*1283C>T)
n.4926C>T
n.3527C>T
c.4038C>T (p.Pro1346=)
c.4086C>T (p.Pro1362=)
c.4146C>T (p.Pro1382=)
c.3696C>T (p.Pro1232=)
c.1998C>T (p.Pro666=)
c.1815C>T (p.Pro605=)
c.4047C>T (p.Pro1349=)
c.3999C>T (p.Pro1333=)
c.3768C>T (p.Pro1256=)
c.3669C>T (p.Pro1223=)
c.2850C>T (p.Pro950=)
n.4401C>T
 ClinVar
13g.51934972G>CCA484024210ATP7Bc.*1832C>G (n.*1832C>G)
c.*2926C>G (n.*2926C>G)
c.3561C>G (p.Pro1187=)
c.4182C>G (p.Pro1394=)
c.3849C>G (p.Pro1283=)
c.3930C>G (p.Pro1310=)
n.1505C>G
c.3948C>G (p.Pro1316=)
n.4321C>G
n.1048C>G
c.3117C>G (p.Pro1039=)
c.2892C>G (p.Pro964=)
c.3987C>G (p.Pro1329=)
c.1960C>G
c.*1283C>G (n.*1283C>G)
n.4926C>G
n.3527C>G
c.4038C>G (p.Pro1346=)
c.4086C>G (p.Pro1362=)
c.4146C>G (p.Pro1382=)
c.3696C>G (p.Pro1232=)
c.1998C>G (p.Pro666=)
c.1815C>G (p.Pro605=)
c.4047C>G (p.Pro1349=)
c.3999C>G (p.Pro1333=)
c.3768C>G (p.Pro1256=)
c.3669C>G (p.Pro1223=)
c.2850C>G (p.Pro950=)
n.4401C>G
 ClinVar dbSNP
13g.51934972G>TCA484024209ATP7Bc.*1832C>A (n.*1832C>A)
c.*2926C>A (n.*2926C>A)
c.3561C>A (p.Pro1187=)
c.4182C>A (p.Pro1394=)
c.3849C>A (p.Pro1283=)
c.3930C>A (p.Pro1310=)
n.1505C>A
c.3948C>A (p.Pro1316=)
n.4321C>A
n.1048C>A
c.3117C>A (p.Pro1039=)
c.2892C>A (p.Pro964=)
c.3987C>A (p.Pro1329=)
c.1960C>A
c.*1283C>A (n.*1283C>A)
n.4926C>A
n.3527C>A
c.4038C>A (p.Pro1346=)
c.4086C>A (p.Pro1362=)
c.4146C>A (p.Pro1382=)
c.3696C>A (p.Pro1232=)
c.1998C>A (p.Pro666=)
c.1815C>A (p.Pro605=)
c.4047C>A (p.Pro1349=)
c.3999C>A (p.Pro1333=)
c.3768C>A (p.Pro1256=)
c.3669C>A (p.Pro1223=)
c.2850C>A (p.Pro950=)
n.4401C>A
 gnomAD v4
13g.51934973G>ACA388019664ATP7Bc.*1831C>T (n.*1831C>T)
c.*2925C>T (n.*2925C>T)
c.3560C>T (p.Pro1187Leu)
c.4181C>T (p.Pro1394Leu)
c.3848C>T (p.Pro1283Leu)
c.3929C>T (p.Pro1310Leu)
n.1504C>T
c.3947C>T (p.Pro1316Leu)
n.4320C>T
n.1047C>T
c.3116C>T (p.Pro1039Leu)
c.2891C>T (p.Pro964Leu)
c.3986C>T (p.Pro1329Leu)
c.1959C>T
c.*1282C>T (n.*1282C>T)
n.4925C>T
n.3526C>T
c.4037C>T (p.Pro1346Leu)
c.4085C>T (p.Pro1362Leu)
c.4145C>T (p.Pro1382Leu)
c.3695C>T (p.Pro1232Leu)
c.1997C>T (p.Pro666Leu)
c.1814C>T (p.Pro605Leu)
c.4046C>T (p.Pro1349Leu)
c.3998C>T (p.Pro1333Leu)
c.3767C>T (p.Pro1256Leu)
c.3668C>T (p.Pro1223Leu)
c.2849C>T (p.Pro950Leu)
n.4400C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51934973G>CCA250071716ATP7Bc.*1831C>G (n.*1831C>G)
c.*2925C>G (n.*2925C>G)
c.3560C>G (p.Pro1187Arg)
c.4181C>G (p.Pro1394Arg)
c.3848C>G (p.Pro1283Arg)
c.3929C>G (p.Pro1310Arg)
n.1504C>G
c.3947C>G (p.Pro1316Arg)
n.4320C>G
n.1047C>G
c.3116C>G (p.Pro1039Arg)
c.2891C>G (p.Pro964Arg)
c.3986C>G (p.Pro1329Arg)
c.1959C>G
c.*1282C>G (n.*1282C>G)
n.4925C>G
n.3526C>G
c.4037C>G (p.Pro1346Arg)
c.4085C>G (p.Pro1362Arg)
c.4145C>G (p.Pro1382Arg)
c.3695C>G (p.Pro1232Arg)
c.1997C>G (p.Pro666Arg)
c.1814C>G (p.Pro605Arg)
c.4046C>G (p.Pro1349Arg)
c.3998C>G (p.Pro1333Arg)
c.3767C>G (p.Pro1256Arg)
c.3668C>G (p.Pro1223Arg)
c.2849C>G (p.Pro950Arg)
n.4400C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51934973G=CA2091550523ATP7Bc.*1831C= (n.*1831C=)
c.*2925C= (n.*2925C=)
c.3560C= (p.Pro1187=)
c.4181C= (p.Pro1394=)
c.3848C= (p.Pro1283=)
c.3929C= (p.Pro1310=)
n.1504C=
c.3947C= (p.Pro1316=)
n.4320C=
n.1047C=
c.3116C= (p.Pro1039=)
c.2891C= (p.Pro964=)
c.3986C= (p.Pro1329=)
c.1959C=
c.*1282C= (n.*1282C=)
n.4925C=
n.3526C=
c.4037C= (p.Pro1346=)
c.4085C= (p.Pro1362=)
c.4145C= (p.Pro1382=)
c.3695C= (p.Pro1232=)
c.1997C= (p.Pro666=)
c.1814C= (p.Pro605=)
c.4046C= (p.Pro1349=)
c.3998C= (p.Pro1333=)
c.3767C= (p.Pro1256=)
c.3668C= (p.Pro1223=)
c.2849C= (p.Pro950=)
n.4400C=
13g.51934973G>TCA388019667ATP7Bc.*1831C>A (n.*1831C>A)
c.*2925C>A (n.*2925C>A)
c.3560C>A (p.Pro1187His)
c.4181C>A (p.Pro1394His)
c.3848C>A (p.Pro1283His)
c.3929C>A (p.Pro1310His)
n.1504C>A
c.3947C>A (p.Pro1316His)
n.4320C>A
n.1047C>A
c.3116C>A (p.Pro1039His)
c.2891C>A (p.Pro964His)
c.3986C>A (p.Pro1329His)
c.1959C>A
c.*1282C>A (n.*1282C>A)
n.4925C>A
n.3526C>A
c.4037C>A (p.Pro1346His)
c.4085C>A (p.Pro1362His)
c.4145C>A (p.Pro1382His)
c.3695C>A (p.Pro1232His)
c.1997C>A (p.Pro666His)
c.1814C>A (p.Pro605His)
c.4046C>A (p.Pro1349His)
c.3998C>A (p.Pro1333His)
c.3767C>A (p.Pro1256His)
c.3668C>A (p.Pro1223His)
c.2849C>A (p.Pro950His)
n.4400C>A
13g.51934974G>ACA388019669ATP7Bc.*1830C>T (n.*1830C>T)
c.*2924C>T (n.*2924C>T)
c.3559C>T (p.Pro1187Ser)
c.4180C>T (p.Pro1394Ser)
c.3847C>T (p.Pro1283Ser)
c.3928C>T (p.Pro1310Ser)
n.1503C>T
c.3946C>T (p.Pro1316Ser)
n.4319C>T
n.1046C>T
c.3115C>T (p.Pro1039Ser)
c.2890C>T (p.Pro964Ser)
c.3985C>T (p.Pro1329Ser)
c.1958C>T
c.*1281C>T (n.*1281C>T)
n.4924C>T
n.3525C>T
c.4036C>T (p.Pro1346Ser)
c.4084C>T (p.Pro1362Ser)
c.4144C>T (p.Pro1382Ser)
c.3694C>T (p.Pro1232Ser)
c.1996C>T (p.Pro666Ser)
c.1813C>T (p.Pro605Ser)
c.4045C>T (p.Pro1349Ser)
c.3997C>T (p.Pro1333Ser)
c.3766C>T (p.Pro1256Ser)
c.3667C>T (p.Pro1223Ser)
c.2848C>T (p.Pro950Ser)
n.4399C>T
 dbSNP gnomAD v3 gnomAD v4
13g.51934974G>CCA388019670ATP7Bc.*1830C>G (n.*1830C>G)
c.*2924C>G (n.*2924C>G)
c.3559C>G (p.Pro1187Ala)
c.4180C>G (p.Pro1394Ala)
c.3847C>G (p.Pro1283Ala)
c.3928C>G (p.Pro1310Ala)
n.1503C>G
c.3946C>G (p.Pro1316Ala)
n.4319C>G
n.1046C>G
c.3115C>G (p.Pro1039Ala)
c.2890C>G (p.Pro964Ala)
c.3985C>G (p.Pro1329Ala)
c.1958C>G
c.*1281C>G (n.*1281C>G)
n.4924C>G
n.3525C>G
c.4036C>G (p.Pro1346Ala)
c.4084C>G (p.Pro1362Ala)
c.4144C>G (p.Pro1382Ala)
c.3694C>G (p.Pro1232Ala)
c.1996C>G (p.Pro666Ala)
c.1813C>G (p.Pro605Ala)
c.4045C>G (p.Pro1349Ala)
c.3997C>G (p.Pro1333Ala)
c.3766C>G (p.Pro1256Ala)
c.3667C>G (p.Pro1223Ala)
c.2848C>G (p.Pro950Ala)
n.4399C>G
13g.51934974G=CA2091550526ATP7Bc.*1830C= (n.*1830C=)
c.*2924C= (n.*2924C=)
c.3559C= (p.Pro1187=)
c.4180C= (p.Pro1394=)
c.3847C= (p.Pro1283=)
c.3928C= (p.Pro1310=)
n.1503C=
c.3946C= (p.Pro1316=)
n.4319C=
n.1046C=
c.3115C= (p.Pro1039=)
c.2890C= (p.Pro964=)
c.3985C= (p.Pro1329=)
c.1958C=
c.*1281C= (n.*1281C=)
n.4924C=
n.3525C=
c.4036C= (p.Pro1346=)
c.4084C= (p.Pro1362=)
c.4144C= (p.Pro1382=)
c.3694C= (p.Pro1232=)
c.1996C= (p.Pro666=)
c.1813C= (p.Pro605=)
c.4045C= (p.Pro1349=)
c.3997C= (p.Pro1333=)
c.3766C= (p.Pro1256=)
c.3667C= (p.Pro1223=)
c.2848C= (p.Pro950=)
n.4399C=
13g.51934974G>TCA388019671ATP7Bc.*1830C>A (n.*1830C>A)
c.*2924C>A (n.*2924C>A)
c.3559C>A (p.Pro1187Thr)
c.4180C>A (p.Pro1394Thr)
c.3847C>A (p.Pro1283Thr)
c.3928C>A (p.Pro1310Thr)
n.1503C>A
c.3946C>A (p.Pro1316Thr)
n.4319C>A
n.1046C>A
c.3115C>A (p.Pro1039Thr)
c.2890C>A (p.Pro964Thr)
c.3985C>A (p.Pro1329Thr)
c.1958C>A
c.*1281C>A (n.*1281C>A)
n.4924C>A
n.3525C>A
c.4036C>A (p.Pro1346Thr)
c.4084C>A (p.Pro1362Thr)
c.4144C>A (p.Pro1382Thr)
c.3694C>A (p.Pro1232Thr)
c.1996C>A (p.Pro666Thr)
c.1813C>A (p.Pro605Thr)
c.4045C>A (p.Pro1349Thr)
c.3997C>A (p.Pro1333Thr)
c.3766C>A (p.Pro1256Thr)
c.3667C>A (p.Pro1223Thr)
c.2848C>A (p.Pro950Thr)
n.4399C>A
13g.51934975C>ACA388019672ATP7Bc.*1829G>T (n.*1829G>T)
c.*2923G>T (n.*2923G>T)
c.3558G>T (p.Lys1186Asn)
c.4179G>T (p.Lys1393Asn)
c.3846G>T (p.Lys1282Asn)
c.3927G>T (p.Lys1309Asn)
n.1502G>T
c.3945G>T (p.Lys1315Asn)
n.4318G>T
n.1045G>T
c.3114G>T (p.Lys1038Asn)
c.2889G>T (p.Lys963Asn)
c.3984G>T (p.Lys1328Asn)
c.1957G>T
c.*1280G>T (n.*1280G>T)
n.4923G>T
n.3524G>T
c.4035G>T (p.Lys1345Asn)
c.4083G>T (p.Lys1361Asn)
c.4143G>T (p.Lys1381Asn)
c.3693G>T (p.Lys1231Asn)
c.1995G>T (p.Lys665Asn)
c.1812G>T (p.Lys604Asn)
c.4044G>T (p.Lys1348Asn)
c.3996G>T (p.Lys1332Asn)
c.3765G>T (p.Lys1255Asn)
c.3666G>T (p.Lys1222Asn)
c.2847G>T (p.Lys949Asn)
n.4398G>T
13g.51934975C>GCA388019673ATP7Bc.*1829G>C (n.*1829G>C)
c.*2923G>C (n.*2923G>C)
c.3558G>C (p.Lys1186Asn)
c.4179G>C (p.Lys1393Asn)
c.3846G>C (p.Lys1282Asn)
c.3927G>C (p.Lys1309Asn)
n.1502G>C
c.3945G>C (p.Lys1315Asn)
n.4318G>C
n.1045G>C
c.3114G>C (p.Lys1038Asn)
c.2889G>C (p.Lys963Asn)
c.3984G>C (p.Lys1328Asn)
c.1957G>C
c.*1280G>C (n.*1280G>C)
n.4923G>C
n.3524G>C
c.4035G>C (p.Lys1345Asn)
c.4083G>C (p.Lys1361Asn)
c.4143G>C (p.Lys1381Asn)
c.3693G>C (p.Lys1231Asn)
c.1995G>C (p.Lys665Asn)
c.1812G>C (p.Lys604Asn)
c.4044G>C (p.Lys1348Asn)
c.3996G>C (p.Lys1332Asn)
c.3765G>C (p.Lys1255Asn)
c.3666G>C (p.Lys1222Asn)
c.2847G>C (p.Lys949Asn)
n.4398G>C
13g.51934975C>TCA484024211ATP7Bc.*1829G>A (n.*1829G>A)
c.*2923G>A (n.*2923G>A)
c.3558G>A (p.Lys1186=)
c.4179G>A (p.Lys1393=)
c.3846G>A (p.Lys1282=)
c.3927G>A (p.Lys1309=)
n.1502G>A
c.3945G>A (p.Lys1315=)
n.4318G>A
n.1045G>A
c.3114G>A (p.Lys1038=)
c.2889G>A (p.Lys963=)
c.3984G>A (p.Lys1328=)
c.1957G>A
c.*1280G>A (n.*1280G>A)
n.4923G>A
n.3524G>A
c.4035G>A (p.Lys1345=)
c.4083G>A (p.Lys1361=)
c.4143G>A (p.Lys1381=)
c.3693G>A (p.Lys1231=)
c.1995G>A (p.Lys665=)
c.1812G>A (p.Lys604=)
c.4044G>A (p.Lys1348=)
c.3996G>A (p.Lys1332=)
c.3765G>A (p.Lys1255=)
c.3666G>A (p.Lys1222=)
c.2847G>A (p.Lys949=)
n.4398G>A
13g.51934976T>ACA388019674ATP7Bc.*1828A>T (n.*1828A>T)
c.*2922A>T (n.*2922A>T)
c.3557A>T (p.Lys1186Met)
c.4178A>T (p.Lys1393Met)
c.3845A>T (p.Lys1282Met)
c.3926A>T (p.Lys1309Met)
n.1501A>T
c.3944A>T (p.Lys1315Met)
n.4317A>T
n.1044A>T
c.3113A>T (p.Lys1038Met)
c.2888A>T (p.Lys963Met)
c.3983A>T (p.Lys1328Met)
c.1956A>T
c.*1279A>T (n.*1279A>T)
n.4922A>T
n.3523A>T
c.4034A>T (p.Lys1345Met)
c.4082A>T (p.Lys1361Met)
c.4142A>T (p.Lys1381Met)
c.3692A>T (p.Lys1231Met)
c.1994A>T (p.Lys665Met)
c.1811A>T (p.Lys604Met)
c.4043A>T (p.Lys1348Met)
c.3995A>T (p.Lys1332Met)
c.3764A>T (p.Lys1255Met)
c.3665A>T (p.Lys1222Met)
c.2846A>T (p.Lys949Met)
n.4397A>T
13g.51934976T>CCA388019675ATP7Bc.*1828A>G (n.*1828A>G)
c.*2922A>G (n.*2922A>G)
c.3557A>G (p.Lys1186Arg)
c.4178A>G (p.Lys1393Arg)
c.3845A>G (p.Lys1282Arg)
c.3926A>G (p.Lys1309Arg)
n.1501A>G
c.3944A>G (p.Lys1315Arg)
n.4317A>G
n.1044A>G
c.3113A>G (p.Lys1038Arg)
c.2888A>G (p.Lys963Arg)
c.3983A>G (p.Lys1328Arg)
c.1956A>G
c.*1279A>G (n.*1279A>G)
n.4922A>G
n.3523A>G
c.4034A>G (p.Lys1345Arg)
c.4082A>G (p.Lys1361Arg)
c.4142A>G (p.Lys1381Arg)
c.3692A>G (p.Lys1231Arg)
c.1994A>G (p.Lys665Arg)
c.1811A>G (p.Lys604Arg)
c.4043A>G (p.Lys1348Arg)
c.3995A>G (p.Lys1332Arg)
c.3764A>G (p.Lys1255Arg)
c.3665A>G (p.Lys1222Arg)
c.2846A>G (p.Lys949Arg)
n.4397A>G
 gnomAD v4
13g.51934976T>GCA388019676ATP7Bc.*1828A>C (n.*1828A>C)
c.*2922A>C (n.*2922A>C)
c.3557A>C (p.Lys1186Thr)
c.4178A>C (p.Lys1393Thr)
c.3845A>C (p.Lys1282Thr)
c.3926A>C (p.Lys1309Thr)
n.1501A>C
c.3944A>C (p.Lys1315Thr)
n.4317A>C
n.1044A>C
c.3113A>C (p.Lys1038Thr)
c.2888A>C (p.Lys963Thr)
c.3983A>C (p.Lys1328Thr)
c.1956A>C
c.*1279A>C (n.*1279A>C)
n.4922A>C
n.3523A>C
c.4034A>C (p.Lys1345Thr)
c.4082A>C (p.Lys1361Thr)
c.4142A>C (p.Lys1381Thr)
c.3692A>C (p.Lys1231Thr)
c.1994A>C (p.Lys665Thr)
c.1811A>C (p.Lys604Thr)
c.4043A>C (p.Lys1348Thr)
c.3995A>C (p.Lys1332Thr)
c.3764A>C (p.Lys1255Thr)
c.3665A>C (p.Lys1222Thr)
c.2846A>C (p.Lys949Thr)
n.4397A>C
13g.51934977T>ACA388019679ATP7Bc.*1827A>T (n.*1827A>T)
c.*2921A>T (n.*2921A>T)
c.3556A>T (p.Lys1186Ter)
c.4177A>T (p.Lys1393Ter)
c.3844A>T (p.Lys1282Ter)
c.3925A>T (p.Lys1309Ter)
n.1500A>T
c.3943A>T (p.Lys1315Ter)
n.4316A>T
n.1043A>T
c.3112A>T (p.Lys1038Ter)
c.2887A>T (p.Lys963Ter)
c.3982A>T (p.Lys1328Ter)
c.1955A>T
c.*1278A>T (n.*1278A>T)
n.4921A>T
n.3522A>T
c.4033A>T (p.Lys1345Ter)
c.4081A>T (p.Lys1361Ter)
c.4141A>T (p.Lys1381Ter)
c.3691A>T (p.Lys1231Ter)
c.1993A>T (p.Lys665Ter)
c.1810A>T (p.Lys604Ter)
c.4042A>T (p.Lys1348Ter)
c.3994A>T (p.Lys1332Ter)
c.3763A>T (p.Lys1255Ter)
c.3664A>T (p.Lys1222Ter)
c.2845A>T (p.Lys949Ter)
n.4396A>T
13g.51934977T>CCA388019678ATP7Bc.*1827A>G (n.*1827A>G)
c.*2921A>G (n.*2921A>G)
c.3556A>G (p.Lys1186Glu)
c.4177A>G (p.Lys1393Glu)
c.3844A>G (p.Lys1282Glu)
c.3925A>G (p.Lys1309Glu)
n.1500A>G
c.3943A>G (p.Lys1315Glu)
n.4316A>G
n.1043A>G
c.3112A>G (p.Lys1038Glu)
c.2887A>G (p.Lys963Glu)
c.3982A>G (p.Lys1328Glu)
c.1955A>G
c.*1278A>G (n.*1278A>G)
n.4921A>G
n.3522A>G
c.4033A>G (p.Lys1345Glu)
c.4081A>G (p.Lys1361Glu)
c.4141A>G (p.Lys1381Glu)
c.3691A>G (p.Lys1231Glu)
c.1993A>G (p.Lys665Glu)
c.1810A>G (p.Lys604Glu)
c.4042A>G (p.Lys1348Glu)
c.3994A>G (p.Lys1332Glu)
c.3763A>G (p.Lys1255Glu)
c.3664A>G (p.Lys1222Glu)
c.2845A>G (p.Lys949Glu)
n.4396A>G
 dbSNP
13g.51934977T>GCA388019677ATP7Bc.*1827A>C (n.*1827A>C)
c.*2921A>C (n.*2921A>C)
c.3556A>C (p.Lys1186Gln)
c.4177A>C (p.Lys1393Gln)
c.3844A>C (p.Lys1282Gln)
c.3925A>C (p.Lys1309Gln)
n.1500A>C
c.3943A>C (p.Lys1315Gln)
n.4316A>C
n.1043A>C
c.3112A>C (p.Lys1038Gln)
c.2887A>C (p.Lys963Gln)
c.3982A>C (p.Lys1328Gln)
c.1955A>C
c.*1278A>C (n.*1278A>C)
n.4921A>C
n.3522A>C
c.4033A>C (p.Lys1345Gln)
c.4081A>C (p.Lys1361Gln)
c.4141A>C (p.Lys1381Gln)
c.3691A>C (p.Lys1231Gln)
c.1993A>C (p.Lys665Gln)
c.1810A>C (p.Lys604Gln)
c.4042A>C (p.Lys1348Gln)
c.3994A>C (p.Lys1332Gln)
c.3763A>C (p.Lys1255Gln)
c.3664A>C (p.Lys1222Gln)
c.2845A>C (p.Lys949Gln)
n.4396A>C
13g.51934977T=CA2091550531ATP7Bc.*1827A= (n.*1827A=)
c.*2921A= (n.*2921A=)
c.3556A= (p.Lys1186=)
c.4177A= (p.Lys1393=)
c.3844A= (p.Lys1282=)
c.3925A= (p.Lys1309=)
n.1500A=
c.3943A= (p.Lys1315=)
n.4316A=
n.1043A=
c.3112A= (p.Lys1038=)
c.2887A= (p.Lys963=)
c.3982A= (p.Lys1328=)
c.1955A=
c.*1278A= (n.*1278A=)
n.4921A=
n.3522A=
c.4033A= (p.Lys1345=)
c.4081A= (p.Lys1361=)
c.4141A= (p.Lys1381=)
c.3691A= (p.Lys1231=)
c.1993A= (p.Lys665=)
c.1810A= (p.Lys604=)
c.4042A= (p.Lys1348=)
c.3994A= (p.Lys1332=)
c.3763A= (p.Lys1255=)
c.3664A= (p.Lys1222=)
c.2845A= (p.Lys949=)
n.4396A=
13g.51934978C>ACA388019680ATP7Bc.*1826G>T (n.*1826G>T)
c.*2920G>T (n.*2920G>T)
c.3555G>T (p.Met1185Ile)
c.4176G>T (p.Met1392Ile)
c.3843G>T (p.Met1281Ile)
c.3924G>T (p.Met1308Ile)
n.1499G>T
c.3942G>T (p.Met1314Ile)
n.4315G>T
n.1042G>T
c.3111G>T (p.Met1037Ile)
c.2886G>T (p.Met962Ile)
c.3981G>T (p.Met1327Ile)
c.1954G>T
c.*1277G>T (n.*1277G>T)
n.4920G>T
n.3521G>T
c.4032G>T (p.Met1344Ile)
c.4080G>T (p.Met1360Ile)
c.4140G>T (p.Met1380Ile)
c.3690G>T (p.Met1230Ile)
c.1992G>T (p.Met664Ile)
c.1809G>T (p.Met603Ile)
c.4041G>T (p.Met1347Ile)
c.3993G>T (p.Met1331Ile)
c.3762G>T (p.Met1254Ile)
c.3663G>T (p.Met1221Ile)
c.2844G>T (p.Met948Ile)
n.4395G>T
13g.51934978C>GCA388019681ATP7Bc.*1826G>C (n.*1826G>C)
c.*2920G>C (n.*2920G>C)
c.3555G>C (p.Met1185Ile)
c.4176G>C (p.Met1392Ile)
c.3843G>C (p.Met1281Ile)
c.3924G>C (p.Met1308Ile)
n.1499G>C
c.3942G>C (p.Met1314Ile)
n.4315G>C
n.1042G>C
c.3111G>C (p.Met1037Ile)
c.2886G>C (p.Met962Ile)
c.3981G>C (p.Met1327Ile)
c.1954G>C
c.*1277G>C (n.*1277G>C)
n.4920G>C
n.3521G>C
c.4032G>C (p.Met1344Ile)
c.4080G>C (p.Met1360Ile)
c.4140G>C (p.Met1380Ile)
c.3690G>C (p.Met1230Ile)
c.1992G>C (p.Met664Ile)
c.1809G>C (p.Met603Ile)
c.4041G>C (p.Met1347Ile)
c.3993G>C (p.Met1331Ile)
c.3762G>C (p.Met1254Ile)
c.3663G>C (p.Met1221Ile)
c.2844G>C (p.Met948Ile)
n.4395G>C
13g.51934978C>TCA388019682ATP7Bc.*1826G>A (n.*1826G>A)
c.*2920G>A (n.*2920G>A)
c.3555G>A (p.Met1185Ile)
c.4176G>A (p.Met1392Ile)
c.3843G>A (p.Met1281Ile)
c.3924G>A (p.Met1308Ile)
n.1499G>A
c.3942G>A (p.Met1314Ile)
n.4315G>A
n.1042G>A
c.3111G>A (p.Met1037Ile)
c.2886G>A (p.Met962Ile)
c.3981G>A (p.Met1327Ile)
c.1954G>A
c.*1277G>A (n.*1277G>A)
n.4920G>A
n.3521G>A
c.4032G>A (p.Met1344Ile)
c.4080G>A (p.Met1360Ile)
c.4140G>A (p.Met1380Ile)
c.3690G>A (p.Met1230Ile)
c.1992G>A (p.Met664Ile)
c.1809G>A (p.Met603Ile)
c.4041G>A (p.Met1347Ile)
c.3993G>A (p.Met1331Ile)
c.3762G>A (p.Met1254Ile)
c.3663G>A (p.Met1221Ile)
c.2844G>A (p.Met948Ile)
n.4395G>A
13g.51934978dupCA2695218705ATP7Bc.*1826dup (n.*1826dup)
c.*2920dup (n.*2920dup)
c.3555dup (p.Lys1186GlufsTer16)
c.4176dup (p.Lys1393GlufsTer16)
c.3843dup (p.Lys1282GlufsTer16)
c.3924dup (p.Lys1309GlufsTer16)
n.1499dup
c.3942dup (p.Lys1315GlufsTer16)
n.4315dup
n.1042dup
c.3111dup (p.Lys1038GlufsTer16)
c.2886dup (p.Lys963GlufsTer16)
c.3981dup (p.Lys1328GlufsTer16)
c.1954dup
c.*1277dup (n.*1277dup)
n.4920dup
n.3521dup
c.4032dup (p.Lys1345GlufsTer16)
c.4080dup (p.Lys1361GlufsTer16)
c.4140dup (p.Lys1381GlufsTer16)
c.3690dup (p.Lys1231GlufsTer16)
c.1992dup (p.Lys665GlufsTer16)
c.1809dup (p.Lys604GlufsTer16)
c.4041dup (p.Lys1348GlufsTer16)
c.3993dup (p.Lys1332GlufsTer16)
c.3762dup (p.Lys1255GlufsTer16)
c.3663dup (p.Lys1222GlufsTer16)
c.2844dup (p.Lys949GlufsTer16)
n.4395dup
13g.51934979A=CA2091550535ATP7Bc.*1825T= (n.*1825T=)
c.*2919T= (n.*2919T=)
c.3554T= (p.Met1185=)
c.4175T= (p.Met1392=)
c.3842T= (p.Met1281=)
c.3923T= (p.Met1308=)
n.1498T=
c.3941T= (p.Met1314=)
n.4314T=
n.1041T=
c.3110T= (p.Met1037=)
c.2885T= (p.Met962=)
c.3980T= (p.Met1327=)
c.1953T=
c.*1276T= (n.*1276T=)
n.4919T=
n.3520T=
c.4031T= (p.Met1344=)
c.4079T= (p.Met1360=)
c.4139T= (p.Met1380=)
c.3689T= (p.Met1230=)
c.1991T= (p.Met664=)
c.1808T= (p.Met603=)
c.4040T= (p.Met1347=)
c.3992T= (p.Met1331=)
c.3761T= (p.Met1254=)
c.3662T= (p.Met1221=)
c.2843T= (p.Met948=)
n.4394T=
13g.51934979A>CCA6988461ATP7Bc.*1825T>G (n.*1825T>G)
c.*2919T>G (n.*2919T>G)
c.3554T>G (p.Met1185Arg)
c.4175T>G (p.Met1392Arg)
c.3842T>G (p.Met1281Arg)
c.3923T>G (p.Met1308Arg)
n.1498T>G
c.3941T>G (p.Met1314Arg)
n.4314T>G
n.1041T>G
c.3110T>G (p.Met1037Arg)
c.2885T>G (p.Met962Arg)
c.3980T>G (p.Met1327Arg)
c.1953T>G
c.*1276T>G (n.*1276T>G)
n.4919T>G
n.3520T>G
c.4031T>G (p.Met1344Arg)
c.4079T>G (p.Met1360Arg)
c.4139T>G (p.Met1380Arg)
c.3689T>G (p.Met1230Arg)
c.1991T>G (p.Met664Arg)
c.1808T>G (p.Met603Arg)
c.4040T>G (p.Met1347Arg)
c.3992T>G (p.Met1331Arg)
c.3761T>G (p.Met1254Arg)
c.3662T>G (p.Met1221Arg)
c.2843T>G (p.Met948Arg)
n.4394T>G
 dbSNP ExAC gnomAD v3 gnomAD v4
13g.51934979A>GCA6988462ATP7Bc.*1825T>C (n.*1825T>C)
c.*2919T>C (n.*2919T>C)
c.3554T>C (p.Met1185Thr)
c.4175T>C (p.Met1392Thr)
c.3842T>C (p.Met1281Thr)
c.3923T>C (p.Met1308Thr)
n.1498T>C
c.3941T>C (p.Met1314Thr)
n.4314T>C
n.1041T>C
c.3110T>C (p.Met1037Thr)
c.2885T>C (p.Met962Thr)
c.3980T>C (p.Met1327Thr)
c.1953T>C
c.*1276T>C (n.*1276T>C)
n.4919T>C
n.3520T>C
c.4031T>C (p.Met1344Thr)
c.4079T>C (p.Met1360Thr)
c.4139T>C (p.Met1380Thr)
c.3689T>C (p.Met1230Thr)
c.1991T>C (p.Met664Thr)
c.1808T>C (p.Met603Thr)
c.4040T>C (p.Met1347Thr)
c.3992T>C (p.Met1331Thr)
c.3761T>C (p.Met1254Thr)
c.3662T>C (p.Met1221Thr)
c.2843T>C (p.Met948Thr)
n.4394T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934979A>TCA388019683ATP7Bc.*1825T>A (n.*1825T>A)
c.*2919T>A (n.*2919T>A)
c.3554T>A (p.Met1185Lys)
c.4175T>A (p.Met1392Lys)
c.3842T>A (p.Met1281Lys)
c.3923T>A (p.Met1308Lys)
n.1498T>A
c.3941T>A (p.Met1314Lys)
n.4314T>A
n.1041T>A
c.3110T>A (p.Met1037Lys)
c.2885T>A (p.Met962Lys)
c.3980T>A (p.Met1327Lys)
c.1953T>A
c.*1276T>A (n.*1276T>A)
n.4919T>A
n.3520T>A
c.4031T>A (p.Met1344Lys)
c.4079T>A (p.Met1360Lys)
c.4139T>A (p.Met1380Lys)
c.3689T>A (p.Met1230Lys)
c.1991T>A (p.Met664Lys)
c.1808T>A (p.Met603Lys)
c.4040T>A (p.Met1347Lys)
c.3992T>A (p.Met1331Lys)
c.3761T>A (p.Met1254Lys)
c.3662T>A (p.Met1221Lys)
c.2843T>A (p.Met948Lys)
n.4394T>A
13g.51934980T>ACA388019684ATP7Bc.*1824A>T (n.*1824A>T)
c.*2918A>T (n.*2918A>T)
c.3553A>T (p.Met1185Leu)
c.4174A>T (p.Met1392Leu)
c.3841A>T (p.Met1281Leu)
c.3922A>T (p.Met1308Leu)
n.1497A>T
c.3940A>T (p.Met1314Leu)
n.4313A>T
n.1040A>T
c.3109A>T (p.Met1037Leu)
c.2884A>T (p.Met962Leu)
c.3979A>T (p.Met1327Leu)
c.1952A>T
c.*1275A>T (n.*1275A>T)
n.4918A>T
n.3519A>T
c.4030A>T (p.Met1344Leu)
c.4078A>T (p.Met1360Leu)
c.4138A>T (p.Met1380Leu)
c.3688A>T (p.Met1230Leu)
c.1990A>T (p.Met664Leu)
c.1807A>T (p.Met603Leu)
c.4039A>T (p.Met1347Leu)
c.3991A>T (p.Met1331Leu)
c.3760A>T (p.Met1254Leu)
c.3661A>T (p.Met1221Leu)
c.2842A>T (p.Met948Leu)
n.4393A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51934980T>CCA6988463ATP7Bc.*1824A>G (n.*1824A>G)
c.*2918A>G (n.*2918A>G)
c.3553A>G (p.Met1185Val)
c.4174A>G (p.Met1392Val)
c.3841A>G (p.Met1281Val)
c.3922A>G (p.Met1308Val)
n.1497A>G
c.3940A>G (p.Met1314Val)
n.4313A>G
n.1040A>G
c.3109A>G (p.Met1037Val)
c.2884A>G (p.Met962Val)
c.3979A>G (p.Met1327Val)
c.1952A>G
c.*1275A>G (n.*1275A>G)
n.4918A>G
n.3519A>G
c.4030A>G (p.Met1344Val)
c.4078A>G (p.Met1360Val)
c.4138A>G (p.Met1380Val)
c.3688A>G (p.Met1230Val)
c.1990A>G (p.Met664Val)
c.1807A>G (p.Met603Val)
c.4039A>G (p.Met1347Val)
c.3991A>G (p.Met1331Val)
c.3760A>G (p.Met1254Val)
c.3661A>G (p.Met1221Val)
c.2842A>G (p.Met948Val)
n.4393A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934980T>GCA388019685ATP7Bc.*1824A>C (n.*1824A>C)
c.*2918A>C (n.*2918A>C)
c.3553A>C (p.Met1185Leu)
c.4174A>C (p.Met1392Leu)
c.3841A>C (p.Met1281Leu)
c.3922A>C (p.Met1308Leu)
n.1497A>C
c.3940A>C (p.Met1314Leu)
n.4313A>C
n.1040A>C
c.3109A>C (p.Met1037Leu)
c.2884A>C (p.Met962Leu)
c.3979A>C (p.Met1327Leu)
c.1952A>C
c.*1275A>C (n.*1275A>C)
n.4918A>C
n.3519A>C
c.4030A>C (p.Met1344Leu)
c.4078A>C (p.Met1360Leu)
c.4138A>C (p.Met1380Leu)
c.3688A>C (p.Met1230Leu)
c.1990A>C (p.Met664Leu)
c.1807A>C (p.Met603Leu)
c.4039A>C (p.Met1347Leu)
c.3991A>C (p.Met1331Leu)
c.3760A>C (p.Met1254Leu)
c.3661A>C (p.Met1221Leu)
c.2842A>C (p.Met948Leu)
n.4393A>C
 gnomAD v4
13g.51934980T=CA2091550541ATP7Bc.*1824A= (n.*1824A=)
c.*2918A= (n.*2918A=)
c.3553A= (p.Met1185=)
c.4174A= (p.Met1392=)
c.3841A= (p.Met1281=)
c.3922A= (p.Met1308=)
n.1497A=
c.3940A= (p.Met1314=)
n.4313A=
n.1040A=
c.3109A= (p.Met1037=)
c.2884A= (p.Met962=)
c.3979A= (p.Met1327=)
c.1952A=
c.*1275A= (n.*1275A=)
n.4918A=
n.3519A=
c.4030A= (p.Met1344=)
c.4078A= (p.Met1360=)
c.4138A= (p.Met1380=)
c.3688A= (p.Met1230=)
c.1990A= (p.Met664=)
c.1807A= (p.Met603=)
c.4039A= (p.Met1347=)
c.3991A= (p.Met1331=)
c.3760A= (p.Met1254=)
c.3661A= (p.Met1221=)
c.2842A= (p.Met948=)
n.4393A=
13g.51934981G>ACA484024212ATP7Bc.*1823C>T (n.*1823C>T)
c.*2917C>T (n.*2917C>T)
c.3552C>T (p.His1184=)
c.4173C>T (p.His1391=)
c.3840C>T (p.His1280=)
c.3921C>T (p.His1307=)
n.1496C>T
c.3939C>T (p.His1313=)
n.4312C>T
n.1039C>T
c.3108C>T (p.His1036=)
c.2883C>T (p.His961=)
c.3978C>T (p.His1326=)
c.1951C>T
c.*1274C>T (n.*1274C>T)
n.4917C>T
n.3518C>T
c.4029C>T (p.His1343=)
c.4077C>T (p.His1359=)
c.4137C>T (p.His1379=)
c.3687C>T (p.His1229=)
c.1989C>T (p.His663=)
c.1806C>T (p.His602=)
c.4038C>T (p.His1346=)
c.3990C>T (p.His1330=)
c.3759C>T (p.His1253=)
c.3660C>T (p.His1220=)
c.2841C>T (p.His947=)
n.4392C>T
13g.51934981G>CCA388019686ATP7Bc.*1823C>G (n.*1823C>G)
c.*2917C>G (n.*2917C>G)
c.3552C>G (p.His1184Gln)
c.4173C>G (p.His1391Gln)
c.3840C>G (p.His1280Gln)
c.3921C>G (p.His1307Gln)
n.1496C>G
c.3939C>G (p.His1313Gln)
n.4312C>G
n.1039C>G
c.3108C>G (p.His1036Gln)
c.2883C>G (p.His961Gln)
c.3978C>G (p.His1326Gln)
c.1951C>G
c.*1274C>G (n.*1274C>G)
n.4917C>G
n.3518C>G
c.4029C>G (p.His1343Gln)
c.4077C>G (p.His1359Gln)
c.4137C>G (p.His1379Gln)
c.3687C>G (p.His1229Gln)
c.1989C>G (p.His663Gln)
c.1806C>G (p.His602Gln)
c.4038C>G (p.His1346Gln)
c.3990C>G (p.His1330Gln)
c.3759C>G (p.His1253Gln)
c.3660C>G (p.His1220Gln)
c.2841C>G (p.His947Gln)
n.4392C>G
13g.51934981G>TCA388019687ATP7Bc.*1823C>A (n.*1823C>A)
c.*2917C>A (n.*2917C>A)
c.3552C>A (p.His1184Gln)
c.4173C>A (p.His1391Gln)
c.3840C>A (p.His1280Gln)
c.3921C>A (p.His1307Gln)
n.1496C>A
c.3939C>A (p.His1313Gln)
n.4312C>A
n.1039C>A
c.3108C>A (p.His1036Gln)
c.2883C>A (p.His961Gln)
c.3978C>A (p.His1326Gln)
c.1951C>A
c.*1274C>A (n.*1274C>A)
n.4917C>A
n.3518C>A
c.4029C>A (p.His1343Gln)
c.4077C>A (p.His1359Gln)
c.4137C>A (p.His1379Gln)
c.3687C>A (p.His1229Gln)
c.1989C>A (p.His663Gln)
c.1806C>A (p.His602Gln)
c.4038C>A (p.His1346Gln)
c.3990C>A (p.His1330Gln)
c.3759C>A (p.His1253Gln)
c.3660C>A (p.His1220Gln)
c.2841C>A (p.His947Gln)
n.4392C>A
13g.51934982T>ACA388019688ATP7Bc.*1822A>T (n.*1822A>T)
c.*2916A>T (n.*2916A>T)
c.3551A>T (p.His1184Leu)
c.4172A>T (p.His1391Leu)
c.3839A>T (p.His1280Leu)
c.3920A>T (p.His1307Leu)
n.1495A>T
c.3938A>T (p.His1313Leu)
n.4311A>T
n.1038A>T
c.3107A>T (p.His1036Leu)
c.2882A>T (p.His961Leu)
c.3977A>T (p.His1326Leu)
c.1950A>T
c.*1273A>T (n.*1273A>T)
n.4916A>T
n.3517A>T
c.4028A>T (p.His1343Leu)
c.4076A>T (p.His1359Leu)
c.4136A>T (p.His1379Leu)
c.3686A>T (p.His1229Leu)
c.1988A>T (p.His663Leu)
c.1805A>T (p.His602Leu)
c.4037A>T (p.His1346Leu)
c.3989A>T (p.His1330Leu)
c.3758A>T (p.His1253Leu)
c.3659A>T (p.His1220Leu)
c.2840A>T (p.His947Leu)
n.4391A>T
13g.51934982T>CCA388019689ATP7Bc.*1822A>G (n.*1822A>G)
c.*2916A>G (n.*2916A>G)
c.3551A>G (p.His1184Arg)
c.4172A>G (p.His1391Arg)
c.3839A>G (p.His1280Arg)
c.3920A>G (p.His1307Arg)
n.1495A>G
c.3938A>G (p.His1313Arg)
n.4311A>G
n.1038A>G
c.3107A>G (p.His1036Arg)
c.2882A>G (p.His961Arg)
c.3977A>G (p.His1326Arg)
c.1950A>G
c.*1273A>G (n.*1273A>G)
n.4916A>G
n.3517A>G
c.4028A>G (p.His1343Arg)
c.4076A>G (p.His1359Arg)
c.4136A>G (p.His1379Arg)
c.3686A>G (p.His1229Arg)
c.1988A>G (p.His663Arg)
c.1805A>G (p.His602Arg)
c.4037A>G (p.His1346Arg)
c.3989A>G (p.His1330Arg)
c.3758A>G (p.His1253Arg)
c.3659A>G (p.His1220Arg)
c.2840A>G (p.His947Arg)
n.4391A>G
13g.51934982T>GCA388019690ATP7Bc.*1822A>C (n.*1822A>C)
c.*2916A>C (n.*2916A>C)
c.3551A>C (p.His1184Pro)
c.4172A>C (p.His1391Pro)
c.3839A>C (p.His1280Pro)
c.3920A>C (p.His1307Pro)
n.1495A>C
c.3938A>C (p.His1313Pro)
n.4311A>C
n.1038A>C
c.3107A>C (p.His1036Pro)
c.2882A>C (p.His961Pro)
c.3977A>C (p.His1326Pro)
c.1950A>C
c.*1273A>C (n.*1273A>C)
n.4916A>C
n.3517A>C
c.4028A>C (p.His1343Pro)
c.4076A>C (p.His1359Pro)
c.4136A>C (p.His1379Pro)
c.3686A>C (p.His1229Pro)
c.1988A>C (p.His663Pro)
c.1805A>C (p.His602Pro)
c.4037A>C (p.His1346Pro)
c.3989A>C (p.His1330Pro)
c.3758A>C (p.His1253Pro)
c.3659A>C (p.His1220Pro)
c.2840A>C (p.His947Pro)
n.4391A>C
13g.51934983G>ACA388019692ATP7Bc.*1821C>T (n.*1821C>T)
c.*2915C>T (n.*2915C>T)
c.3550C>T (p.His1184Tyr)
c.4171C>T (p.His1391Tyr)
c.3838C>T (p.His1280Tyr)
c.3919C>T (p.His1307Tyr)
n.1494C>T
c.3937C>T (p.His1313Tyr)
n.4310C>T
n.1037C>T
c.3106C>T (p.His1036Tyr)
c.2881C>T (p.His961Tyr)
c.3976C>T (p.His1326Tyr)
c.1949C>T
c.*1272C>T (n.*1272C>T)
n.4915C>T
n.3516C>T
c.4027C>T (p.His1343Tyr)
c.4075C>T (p.His1359Tyr)
c.4135C>T (p.His1379Tyr)
c.3685C>T (p.His1229Tyr)
c.1987C>T (p.His663Tyr)
c.1804C>T (p.His602Tyr)
c.4036C>T (p.His1346Tyr)
c.3988C>T (p.His1330Tyr)
c.3757C>T (p.His1253Tyr)
c.3658C>T (p.His1220Tyr)
c.2839C>T (p.His947Tyr)
n.4390C>T
13g.51934983G>CCA388019693ATP7Bc.*1821C>G (n.*1821C>G)
c.*2915C>G (n.*2915C>G)
c.3550C>G (p.His1184Asp)
c.4171C>G (p.His1391Asp)
c.3838C>G (p.His1280Asp)
c.3919C>G (p.His1307Asp)
n.1494C>G
c.3937C>G (p.His1313Asp)
n.4310C>G
n.1037C>G
c.3106C>G (p.His1036Asp)
c.2881C>G (p.His961Asp)
c.3976C>G (p.His1326Asp)
c.1949C>G
c.*1272C>G (n.*1272C>G)
n.4915C>G
n.3516C>G
c.4027C>G (p.His1343Asp)
c.4075C>G (p.His1359Asp)
c.4135C>G (p.His1379Asp)
c.3685C>G (p.His1229Asp)
c.1987C>G (p.His663Asp)
c.1804C>G (p.His602Asp)
c.4036C>G (p.His1346Asp)
c.3988C>G (p.His1330Asp)
c.3757C>G (p.His1253Asp)
c.3658C>G (p.His1220Asp)
c.2839C>G (p.His947Asp)
n.4390C>G
13g.51934983G>TCA388019691ATP7Bc.*1821C>A (n.*1821C>A)
c.*2915C>A (n.*2915C>A)
c.3550C>A (p.His1184Asn)
c.4171C>A (p.His1391Asn)
c.3838C>A (p.His1280Asn)
c.3919C>A (p.His1307Asn)
n.1494C>A
c.3937C>A (p.His1313Asn)
n.4310C>A
n.1037C>A
c.3106C>A (p.His1036Asn)
c.2881C>A (p.His961Asn)
c.3976C>A (p.His1326Asn)
c.1949C>A
c.*1272C>A (n.*1272C>A)
n.4915C>A
n.3516C>A
c.4027C>A (p.His1343Asn)
c.4075C>A (p.His1359Asn)
c.4135C>A (p.His1379Asn)
c.3685C>A (p.His1229Asn)
c.1987C>A (p.His663Asn)
c.1804C>A (p.His602Asn)
c.4036C>A (p.His1346Asn)
c.3988C>A (p.His1330Asn)
c.3757C>A (p.His1253Asn)
c.3658C>A (p.His1220Asn)
c.2839C>A (p.His947Asn)
n.4390C>A
13g.51934984G>ACA484024213ATP7Bc.*1820C>T (n.*1820C>T)
c.*2914C>T (n.*2914C>T)
c.3549C>T (p.Gly1183=)
c.4170C>T (p.Gly1390=)
c.3837C>T (p.Gly1279=)
c.3918C>T (p.Gly1306=)
n.1493C>T
c.3936C>T (p.Gly1312=)
n.4309C>T
n.1036C>T
c.3105C>T (p.Gly1035=)
c.2880C>T (p.Gly960=)
c.3975C>T (p.Gly1325=)
c.1948C>T
c.*1271C>T (n.*1271C>T)
n.4914C>T
n.3515C>T
c.4026C>T (p.Gly1342=)
c.4074C>T (p.Gly1358=)
c.4134C>T (p.Gly1378=)
c.3684C>T (p.Gly1228=)
c.1986C>T (p.Gly662=)
c.1803C>T (p.Gly601=)
c.4035C>T (p.Gly1345=)
c.3987C>T (p.Gly1329=)
c.3756C>T (p.Gly1252=)
c.3657C>T (p.Gly1219=)
c.2838C>T (p.Gly946=)
n.4389C>T
 gnomAD v4
13g.51934984G>CCA484024215ATP7Bc.*1820C>G (n.*1820C>G)
c.*2914C>G (n.*2914C>G)
c.3549C>G (p.Gly1183=)
c.4170C>G (p.Gly1390=)
c.3837C>G (p.Gly1279=)
c.3918C>G (p.Gly1306=)
n.1493C>G
c.3936C>G (p.Gly1312=)
n.4309C>G
n.1036C>G
c.3105C>G (p.Gly1035=)
c.2880C>G (p.Gly960=)
c.3975C>G (p.Gly1325=)
c.1948C>G
c.*1271C>G (n.*1271C>G)
n.4914C>G
n.3515C>G
c.4026C>G (p.Gly1342=)
c.4074C>G (p.Gly1358=)
c.4134C>G (p.Gly1378=)
c.3684C>G (p.Gly1228=)
c.1986C>G (p.Gly662=)
c.1803C>G (p.Gly601=)
c.4035C>G (p.Gly1345=)
c.3987C>G (p.Gly1329=)
c.3756C>G (p.Gly1252=)
c.3657C>G (p.Gly1219=)
c.2838C>G (p.Gly946=)
n.4389C>G
13g.51934984G=CA2091550543ATP7Bc.*1820C= (n.*1820C=)
c.*2914C= (n.*2914C=)
c.3549C= (p.Gly1183=)
c.4170C= (p.Gly1390=)
c.3837C= (p.Gly1279=)
c.3918C= (p.Gly1306=)
n.1493C=
c.3936C= (p.Gly1312=)
n.4309C=
n.1036C=
c.3105C= (p.Gly1035=)
c.2880C= (p.Gly960=)
c.3975C= (p.Gly1325=)
c.1948C=
c.*1271C= (n.*1271C=)
n.4914C=
n.3515C=
c.4026C= (p.Gly1342=)
c.4074C= (p.Gly1358=)
c.4134C= (p.Gly1378=)
c.3684C= (p.Gly1228=)
c.1986C= (p.Gly662=)
c.1803C= (p.Gly601=)
c.4035C= (p.Gly1345=)
c.3987C= (p.Gly1329=)
c.3756C= (p.Gly1252=)
c.3657C= (p.Gly1219=)
c.2838C= (p.Gly946=)
n.4389C=
13g.51934984G>TCA484024214ATP7Bc.*1820C>A (n.*1820C>A)
c.*2914C>A (n.*2914C>A)
c.3549C>A (p.Gly1183=)
c.4170C>A (p.Gly1390=)
c.3837C>A (p.Gly1279=)
c.3918C>A (p.Gly1306=)
n.1493C>A
c.3936C>A (p.Gly1312=)
n.4309C>A
n.1036C>A
c.3105C>A (p.Gly1035=)
c.2880C>A (p.Gly960=)
c.3975C>A (p.Gly1325=)
c.1948C>A
c.*1271C>A (n.*1271C>A)
n.4914C>A
n.3515C>A
c.4026C>A (p.Gly1342=)
c.4074C>A (p.Gly1358=)
c.4134C>A (p.Gly1378=)
c.3684C>A (p.Gly1228=)
c.1986C>A (p.Gly662=)
c.1803C>A (p.Gly601=)
c.4035C>A (p.Gly1345=)
c.3987C>A (p.Gly1329=)
c.3756C>A (p.Gly1252=)
c.3657C>A (p.Gly1219=)
c.2838C>A (p.Gly946=)
n.4389C>A
 dbSNP
13g.51934985C>ACA388019694ATP7Bc.*1819G>T (n.*1819G>T)
c.*2913G>T (n.*2913G>T)
c.3548G>T (p.Gly1183Val)
c.4169G>T (p.Gly1390Val)
c.3836G>T (p.Gly1279Val)
c.3917G>T (p.Gly1306Val)
n.1492G>T
c.3935G>T (p.Gly1312Val)
n.4308G>T
n.1035G>T
c.3104G>T (p.Gly1035Val)
c.2879G>T (p.Gly960Val)
c.3974G>T (p.Gly1325Val)
c.1947G>T
c.*1270G>T (n.*1270G>T)
n.4913G>T
n.3514G>T
c.4025G>T (p.Gly1342Val)
c.4073G>T (p.Gly1358Val)
c.4133G>T (p.Gly1378Val)
c.3683G>T (p.Gly1228Val)
c.1985G>T (p.Gly662Val)
c.1802G>T (p.Gly601Val)
c.4034G>T (p.Gly1345Val)
c.3986G>T (p.Gly1329Val)
c.3755G>T (p.Gly1252Val)
c.3656G>T (p.Gly1219Val)
c.2837G>T (p.Gly946Val)
n.4388G>T
13g.51934985C>GCA388019695ATP7Bc.*1819G>C (n.*1819G>C)
c.*2913G>C (n.*2913G>C)
c.3548G>C (p.Gly1183Ala)
c.4169G>C (p.Gly1390Ala)
c.3836G>C (p.Gly1279Ala)
c.3917G>C (p.Gly1306Ala)
n.1492G>C
c.3935G>C (p.Gly1312Ala)
n.4308G>C
n.1035G>C
c.3104G>C (p.Gly1035Ala)
c.2879G>C (p.Gly960Ala)
c.3974G>C (p.Gly1325Ala)
c.1947G>C
c.*1270G>C (n.*1270G>C)
n.4913G>C
n.3514G>C
c.4025G>C (p.Gly1342Ala)
c.4073G>C (p.Gly1358Ala)
c.4133G>C (p.Gly1378Ala)
c.3683G>C (p.Gly1228Ala)
c.1985G>C (p.Gly662Ala)
c.1802G>C (p.Gly601Ala)
c.4034G>C (p.Gly1345Ala)
c.3986G>C (p.Gly1329Ala)
c.3755G>C (p.Gly1252Ala)
c.3656G>C (p.Gly1219Ala)
c.2837G>C (p.Gly946Ala)
n.4388G>C
13g.51934985C>TCA388019696ATP7Bc.*1819G>A (n.*1819G>A)
c.*2913G>A (n.*2913G>A)
c.3548G>A (p.Gly1183Asp)
c.4169G>A (p.Gly1390Asp)
c.3836G>A (p.Gly1279Asp)
c.3917G>A (p.Gly1306Asp)
n.1492G>A
c.3935G>A (p.Gly1312Asp)
n.4308G>A
n.1035G>A
c.3104G>A (p.Gly1035Asp)
c.2879G>A (p.Gly960Asp)
c.3974G>A (p.Gly1325Asp)
c.1947G>A
c.*1270G>A (n.*1270G>A)
n.4913G>A
n.3514G>A
c.4025G>A (p.Gly1342Asp)
c.4073G>A (p.Gly1358Asp)
c.4133G>A (p.Gly1378Asp)
c.3683G>A (p.Gly1228Asp)
c.1985G>A (p.Gly662Asp)
c.1802G>A (p.Gly601Asp)
c.4034G>A (p.Gly1345Asp)
c.3986G>A (p.Gly1329Asp)
c.3755G>A (p.Gly1252Asp)
c.3656G>A (p.Gly1219Asp)
c.2837G>A (p.Gly946Asp)
n.4388G>A
 gnomAD v4
13g.51934986C>ACA388019697ATP7Bc.*1818G>T (n.*1818G>T)
c.*2912G>T (n.*2912G>T)
c.3547G>T (p.Gly1183Cys)
c.4168G>T (p.Gly1390Cys)
c.3835G>T (p.Gly1279Cys)
c.3916G>T (p.Gly1306Cys)
n.1491G>T
c.3934G>T (p.Gly1312Cys)
n.4307G>T
n.1034G>T
c.3103G>T (p.Gly1035Cys)
c.2878G>T (p.Gly960Cys)
c.3973G>T (p.Gly1325Cys)
c.1946G>T
c.*1269G>T (n.*1269G>T)
n.4912G>T
n.3513G>T
c.4024G>T (p.Gly1342Cys)
c.4072G>T (p.Gly1358Cys)
c.4132G>T (p.Gly1378Cys)
c.3682G>T (p.Gly1228Cys)
c.1984G>T (p.Gly662Cys)
c.1801G>T (p.Gly601Cys)
c.4033G>T (p.Gly1345Cys)
c.3985G>T (p.Gly1329Cys)
c.3754G>T (p.Gly1252Cys)
c.3655G>T (p.Gly1219Cys)
c.2836G>T (p.Gly946Cys)
n.4387G>T
13g.51934986C>GCA388019698ATP7Bc.*1818G>C (n.*1818G>C)
c.*2912G>C (n.*2912G>C)
c.3547G>C (p.Gly1183Arg)
c.4168G>C (p.Gly1390Arg)
c.3835G>C (p.Gly1279Arg)
c.3916G>C (p.Gly1306Arg)
n.1491G>C
c.3934G>C (p.Gly1312Arg)
n.4307G>C
n.1034G>C
c.3103G>C (p.Gly1035Arg)
c.2878G>C (p.Gly960Arg)
c.3973G>C (p.Gly1325Arg)
c.1946G>C
c.*1269G>C (n.*1269G>C)
n.4912G>C
n.3513G>C
c.4024G>C (p.Gly1342Arg)
c.4072G>C (p.Gly1358Arg)
c.4132G>C (p.Gly1378Arg)
c.3682G>C (p.Gly1228Arg)
c.1984G>C (p.Gly662Arg)
c.1801G>C (p.Gly601Arg)
c.4033G>C (p.Gly1345Arg)
c.3985G>C (p.Gly1329Arg)
c.3754G>C (p.Gly1252Arg)
c.3655G>C (p.Gly1219Arg)
c.2836G>C (p.Gly946Arg)
n.4387G>C
13g.51934986C>TCA388019699ATP7Bc.*1818G>A (n.*1818G>A)
c.*2912G>A (n.*2912G>A)
c.3547G>A (p.Gly1183Ser)
c.4168G>A (p.Gly1390Ser)
c.3835G>A (p.Gly1279Ser)
c.3916G>A (p.Gly1306Ser)
n.1491G>A
c.3934G>A (p.Gly1312Ser)
n.4307G>A
n.1034G>A
c.3103G>A (p.Gly1035Ser)
c.2878G>A (p.Gly960Ser)
c.3973G>A (p.Gly1325Ser)
c.1946G>A
c.*1269G>A (n.*1269G>A)
n.4912G>A
n.3513G>A
c.4024G>A (p.Gly1342Ser)
c.4072G>A (p.Gly1358Ser)
c.4132G>A (p.Gly1378Ser)
c.3682G>A (p.Gly1228Ser)
c.1984G>A (p.Gly662Ser)
c.1801G>A (p.Gly601Ser)
c.4033G>A (p.Gly1345Ser)
c.3985G>A (p.Gly1329Ser)
c.3754G>A (p.Gly1252Ser)
c.3655G>A (p.Gly1219Ser)
c.2836G>A (p.Gly946Ser)
n.4387G>A
 gnomAD v4
13g.51934987A=CA2091550548ATP7Bc.*1817T= (n.*1817T=)
c.*2911T= (n.*2911T=)
c.3546T= (p.His1182=)
c.4167T= (p.His1389=)
c.3834T= (p.His1278=)
c.3915T= (p.His1305=)
n.1490T=
c.3933T= (p.His1311=)
n.4306T=
n.1033T=
c.3102T= (p.His1034=)
c.2877T= (p.His959=)
c.3972T= (p.His1324=)
c.1945T=
c.*1268T= (n.*1268T=)
n.4911T=
n.3512T=
c.4023T= (p.His1341=)
c.4071T= (p.His1357=)
c.4131T= (p.His1377=)
c.3681T= (p.His1227=)
c.1983T= (p.His661=)
c.1800T= (p.His600=)
c.4032T= (p.His1344=)
c.3984T= (p.His1328=)
c.3753T= (p.His1251=)
c.3654T= (p.His1218=)
c.2835T= (p.His945=)
n.4386T=
13g.51934987A>CCA388019700ATP7Bc.*1817T>G (n.*1817T>G)
c.*2911T>G (n.*2911T>G)
c.3546T>G (p.His1182Gln)
c.4167T>G (p.His1389Gln)
c.3834T>G (p.His1278Gln)
c.3915T>G (p.His1305Gln)
n.1490T>G
c.3933T>G (p.His1311Gln)
n.4306T>G
n.1033T>G
c.3102T>G (p.His1034Gln)
c.2877T>G (p.His959Gln)
c.3972T>G (p.His1324Gln)
c.1945T>G
c.*1268T>G (n.*1268T>G)
n.4911T>G
n.3512T>G
c.4023T>G (p.His1341Gln)
c.4071T>G (p.His1357Gln)
c.4131T>G (p.His1377Gln)
c.3681T>G (p.His1227Gln)
c.1983T>G (p.His661Gln)
c.1800T>G (p.His600Gln)
c.4032T>G (p.His1344Gln)
c.3984T>G (p.His1328Gln)
c.3753T>G (p.His1251Gln)
c.3654T>G (p.His1218Gln)
c.2835T>G (p.His945Gln)
n.4386T>G
 dbSNP
13g.51934987A>GCA6988464ATP7Bc.*1817T>C (n.*1817T>C)
c.*2911T>C (n.*2911T>C)
c.3546T>C (p.His1182=)
c.4167T>C (p.His1389=)
c.3834T>C (p.His1278=)
c.3915T>C (p.His1305=)
n.1490T>C
c.3933T>C (p.His1311=)
n.4306T>C
n.1033T>C
c.3102T>C (p.His1034=)
c.2877T>C (p.His959=)
c.3972T>C (p.His1324=)
c.1945T>C
c.*1268T>C (n.*1268T>C)
n.4911T>C
n.3512T>C
c.4023T>C (p.His1341=)
c.4071T>C (p.His1357=)
c.4131T>C (p.His1377=)
c.3681T>C (p.His1227=)
c.1983T>C (p.His661=)
c.1800T>C (p.His600=)
c.4032T>C (p.His1344=)
c.3984T>C (p.His1328=)
c.3753T>C (p.His1251=)
c.3654T>C (p.His1218=)
c.2835T>C (p.His945=)
n.4386T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934987A>TCA388019701ATP7Bc.*1817T>A (n.*1817T>A)
c.*2911T>A (n.*2911T>A)
c.3546T>A (p.His1182Gln)
c.4167T>A (p.His1389Gln)
c.3834T>A (p.His1278Gln)
c.3915T>A (p.His1305Gln)
n.1490T>A
c.3933T>A (p.His1311Gln)
n.4306T>A
n.1033T>A
c.3102T>A (p.His1034Gln)
c.2877T>A (p.His959Gln)
c.3972T>A (p.His1324Gln)
c.1945T>A
c.*1268T>A (n.*1268T>A)
n.4911T>A
n.3512T>A
c.4023T>A (p.His1341Gln)
c.4071T>A (p.His1357Gln)
c.4131T>A (p.His1377Gln)
c.3681T>A (p.His1227Gln)
c.1983T>A (p.His661Gln)
c.1800T>A (p.His600Gln)
c.4032T>A (p.His1344Gln)
c.3984T>A (p.His1328Gln)
c.3753T>A (p.His1251Gln)
c.3654T>A (p.His1218Gln)
c.2835T>A (p.His945Gln)
n.4386T>A
13g.51934987dupCA2695218706ATP7Bc.*1817dup (n.*1817dup)
c.*2911dup (n.*2911dup)
c.3546dup (p.Gly1183TrpfsTer19)
c.4167dup (p.Gly1390TrpfsTer19)
c.3834dup (p.Gly1279TrpfsTer19)
c.3915dup (p.Gly1306TrpfsTer19)
n.1490dup
c.3933dup (p.Gly1312TrpfsTer19)
n.4306dup
n.1033dup
c.3102dup (p.Gly1035TrpfsTer19)
c.2877dup (p.Gly960TrpfsTer19)
c.3972dup (p.Gly1325TrpfsTer19)
c.1945dup
c.*1268dup (n.*1268dup)
n.4911dup
n.3512dup
c.4023dup (p.Gly1342TrpfsTer19)
c.4071dup (p.Gly1358TrpfsTer19)
c.4131dup (p.Gly1378TrpfsTer19)
c.3681dup (p.Gly1228TrpfsTer19)
c.1983dup (p.Gly662TrpfsTer19)
c.1800dup (p.Gly601TrpfsTer19)
c.4032dup (p.Gly1345TrpfsTer19)
c.3984dup (p.Gly1329TrpfsTer19)
c.3753dup (p.Gly1252TrpfsTer19)
c.3654dup (p.Gly1219TrpfsTer19)
c.2835dup (p.Gly946TrpfsTer19)
n.4386dup
13g.51934988T>ACA388019702ATP7Bc.*1816A>T (n.*1816A>T)
c.*2910A>T (n.*2910A>T)
c.3545A>T (p.His1182Leu)
c.4166A>T (p.His1389Leu)
c.3833A>T (p.His1278Leu)
c.3914A>T (p.His1305Leu)
n.1489A>T
c.3932A>T (p.His1311Leu)
n.4305A>T
n.1032A>T
c.3101A>T (p.His1034Leu)
c.2876A>T (p.His959Leu)
c.3971A>T (p.His1324Leu)
c.1944A>T
c.*1267A>T (n.*1267A>T)
n.4910A>T
n.3511A>T
c.4022A>T (p.His1341Leu)
c.4070A>T (p.His1357Leu)
c.4130A>T (p.His1377Leu)
c.3680A>T (p.His1227Leu)
c.1982A>T (p.His661Leu)
c.1799A>T (p.His600Leu)
c.4031A>T (p.His1344Leu)
c.3983A>T (p.His1328Leu)
c.3752A>T (p.His1251Leu)
c.3653A>T (p.His1218Leu)
c.2834A>T (p.His945Leu)
n.4385A>T
13g.51934988T>CCA388019703ATP7Bc.*1816A>G (n.*1816A>G)
c.*2910A>G (n.*2910A>G)
c.3545A>G (p.His1182Arg)
c.4166A>G (p.His1389Arg)
c.3833A>G (p.His1278Arg)
c.3914A>G (p.His1305Arg)
n.1489A>G
c.3932A>G (p.His1311Arg)
n.4305A>G
n.1032A>G
c.3101A>G (p.His1034Arg)
c.2876A>G (p.His959Arg)
c.3971A>G (p.His1324Arg)
c.1944A>G
c.*1267A>G (n.*1267A>G)
n.4910A>G
n.3511A>G
c.4022A>G (p.His1341Arg)
c.4070A>G (p.His1357Arg)
c.4130A>G (p.His1377Arg)
c.3680A>G (p.His1227Arg)
c.1982A>G (p.His661Arg)
c.1799A>G (p.His600Arg)
c.4031A>G (p.His1344Arg)
c.3983A>G (p.His1328Arg)
c.3752A>G (p.His1251Arg)
c.3653A>G (p.His1218Arg)
c.2834A>G (p.His945Arg)
n.4385A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51934988T>GCA388019704ATP7Bc.*1816A>C (n.*1816A>C)
c.*2910A>C (n.*2910A>C)
c.3545A>C (p.His1182Pro)
c.4166A>C (p.His1389Pro)
c.3833A>C (p.His1278Pro)
c.3914A>C (p.His1305Pro)
n.1489A>C
c.3932A>C (p.His1311Pro)
n.4305A>C
n.1032A>C
c.3101A>C (p.His1034Pro)
c.2876A>C (p.His959Pro)
c.3971A>C (p.His1324Pro)
c.1944A>C
c.*1267A>C (n.*1267A>C)
n.4910A>C
n.3511A>C
c.4022A>C (p.His1341Pro)
c.4070A>C (p.His1357Pro)
c.4130A>C (p.His1377Pro)
c.3680A>C (p.His1227Pro)
c.1982A>C (p.His661Pro)
c.1799A>C (p.His600Pro)
c.4031A>C (p.His1344Pro)
c.3983A>C (p.His1328Pro)
c.3752A>C (p.His1251Pro)
c.3653A>C (p.His1218Pro)
c.2834A>C (p.His945Pro)
n.4385A>C
13g.51934988T=CA2091550553ATP7Bc.*1816A= (n.*1816A=)
c.*2910A= (n.*2910A=)
c.3545A= (p.His1182=)
c.4166A= (p.His1389=)
c.3833A= (p.His1278=)
c.3914A= (p.His1305=)
n.1489A=
c.3932A= (p.His1311=)
n.4305A=
n.1032A=
c.3101A= (p.His1034=)
c.2876A= (p.His959=)
c.3971A= (p.His1324=)
c.1944A=
c.*1267A= (n.*1267A=)
n.4910A=
n.3511A=
c.4022A= (p.His1341=)
c.4070A= (p.His1357=)
c.4130A= (p.His1377=)
c.3680A= (p.His1227=)
c.1982A= (p.His661=)
c.1799A= (p.His600=)
c.4031A= (p.His1344=)
c.3983A= (p.His1328=)
c.3752A= (p.His1251=)
c.3653A= (p.His1218=)
c.2834A= (p.His945=)
n.4385A=
13g.51934989G>ACA388019707ATP7Bc.*1815C>T (n.*1815C>T)
c.*2909C>T (n.*2909C>T)
c.3544C>T (p.His1182Tyr)
c.4165C>T (p.His1389Tyr)
c.3832C>T (p.His1278Tyr)
c.3913C>T (p.His1305Tyr)
n.1488C>T
c.3931C>T (p.His1311Tyr)
n.4304C>T
n.1031C>T
c.3100C>T (p.His1034Tyr)
c.2875C>T (p.His959Tyr)
c.3970C>T (p.His1324Tyr)
c.1943C>T
c.*1266C>T (n.*1266C>T)
n.4909C>T
n.3510C>T
c.4021C>T (p.His1341Tyr)
c.4069C>T (p.His1357Tyr)
c.4129C>T (p.His1377Tyr)
c.3679C>T (p.His1227Tyr)
c.1981C>T (p.His661Tyr)
c.1798C>T (p.His600Tyr)
c.4030C>T (p.His1344Tyr)
c.3982C>T (p.His1328Tyr)
c.3751C>T (p.His1251Tyr)
c.3652C>T (p.His1218Tyr)
c.2833C>T (p.His945Tyr)
n.4384C>T
 gnomAD v4
13g.51934989G>CCA388019706ATP7Bc.*1815C>G (n.*1815C>G)
c.*2909C>G (n.*2909C>G)
c.3544C>G (p.His1182Asp)
c.4165C>G (p.His1389Asp)
c.3832C>G (p.His1278Asp)
c.3913C>G (p.His1305Asp)
n.1488C>G
c.3931C>G (p.His1311Asp)
n.4304C>G
n.1031C>G
c.3100C>G (p.His1034Asp)
c.2875C>G (p.His959Asp)
c.3970C>G (p.His1324Asp)
c.1943C>G
c.*1266C>G (n.*1266C>G)
n.4909C>G
n.3510C>G
c.4021C>G (p.His1341Asp)
c.4069C>G (p.His1357Asp)
c.4129C>G (p.His1377Asp)
c.3679C>G (p.His1227Asp)
c.1981C>G (p.His661Asp)
c.1798C>G (p.His600Asp)
c.4030C>G (p.His1344Asp)
c.3982C>G (p.His1328Asp)
c.3751C>G (p.His1251Asp)
c.3652C>G (p.His1218Asp)
c.2833C>G (p.His945Asp)
n.4384C>G
13g.51934989G>TCA388019705ATP7Bc.*1815C>A (n.*1815C>A)
c.*2909C>A (n.*2909C>A)
c.3544C>A (p.His1182Asn)
c.4165C>A (p.His1389Asn)
c.3832C>A (p.His1278Asn)
c.3913C>A (p.His1305Asn)
n.1488C>A
c.3931C>A (p.His1311Asn)
n.4304C>A
n.1031C>A
c.3100C>A (p.His1034Asn)
c.2875C>A (p.His959Asn)
c.3970C>A (p.His1324Asn)
c.1943C>A
c.*1266C>A (n.*1266C>A)
n.4909C>A
n.3510C>A
c.4021C>A (p.His1341Asn)
c.4069C>A (p.His1357Asn)
c.4129C>A (p.His1377Asn)
c.3679C>A (p.His1227Asn)
c.1981C>A (p.His661Asn)
c.1798C>A (p.His600Asn)
c.4030C>A (p.His1344Asn)
c.3982C>A (p.His1328Asn)
c.3751C>A (p.His1251Asn)
c.3652C>A (p.His1218Asn)
c.2833C>A (p.His945Asn)
n.4384C>A
13g.51934990C>ACA250071731ATP7Bc.*1814G>T (n.*1814G>T)
c.*2908G>T (n.*2908G>T)
c.3543G>T (p.Ala1181=)
c.4164G>T (p.Ala1388=)
c.3831G>T (p.Ala1277=)
c.3912G>T (p.Ala1304=)
n.1487G>T
c.3930G>T (p.Ala1310=)
n.4303G>T
n.1030G>T
c.3099G>T (p.Ala1033=)
c.2874G>T (p.Ala958=)
c.3969G>T (p.Ala1323=)
c.1942G>T
c.*1265G>T (n.*1265G>T)
n.4908G>T
n.3509G>T
c.4020G>T (p.Ala1340=)
c.4068G>T (p.Ala1356=)
c.4128G>T (p.Ala1376=)
c.3678G>T (p.Ala1226=)
c.1980G>T (p.Ala660=)
c.1797G>T (p.Ala599=)
c.4029G>T (p.Ala1343=)
c.3981G>T (p.Ala1327=)
c.3750G>T (p.Ala1250=)
c.3651G>T (p.Ala1217=)
c.2832G>T (p.Ala944=)
n.4383G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51934990C=CA2091550560ATP7Bc.*1814G= (n.*1814G=)
c.*2908G= (n.*2908G=)
c.3543G= (p.Ala1181=)
c.4164G= (p.Ala1388=)
c.3831G= (p.Ala1277=)
c.3912G= (p.Ala1304=)
n.1487G=
c.3930G= (p.Ala1310=)
n.4303G=
n.1030G=
c.3099G= (p.Ala1033=)
c.2874G= (p.Ala958=)
c.3969G= (p.Ala1323=)
c.1942G=
c.*1265G= (n.*1265G=)
n.4908G=
n.3509G=
c.4020G= (p.Ala1340=)
c.4068G= (p.Ala1356=)
c.4128G= (p.Ala1376=)
c.3678G= (p.Ala1226=)
c.1980G= (p.Ala660=)
c.1797G= (p.Ala599=)
c.4029G= (p.Ala1343=)
c.3981G= (p.Ala1327=)
c.3750G= (p.Ala1250=)
c.3651G= (p.Ala1217=)
c.2832G= (p.Ala944=)
n.4383G=
13g.51934990C>GCA484024216ATP7Bc.*1814G>C (n.*1814G>C)
c.*2908G>C (n.*2908G>C)
c.3543G>C (p.Ala1181=)
c.4164G>C (p.Ala1388=)
c.3831G>C (p.Ala1277=)
c.3912G>C (p.Ala1304=)
n.1487G>C
c.3930G>C (p.Ala1310=)
n.4303G>C
n.1030G>C
c.3099G>C (p.Ala1033=)
c.2874G>C (p.Ala958=)
c.3969G>C (p.Ala1323=)
c.1942G>C
c.*1265G>C (n.*1265G>C)
n.4908G>C
n.3509G>C
c.4020G>C (p.Ala1340=)
c.4068G>C (p.Ala1356=)
c.4128G>C (p.Ala1376=)
c.3678G>C (p.Ala1226=)
c.1980G>C (p.Ala660=)
c.1797G>C (p.Ala599=)
c.4029G>C (p.Ala1343=)
c.3981G>C (p.Ala1327=)
c.3750G>C (p.Ala1250=)
c.3651G>C (p.Ala1217=)
c.2832G>C (p.Ala944=)
n.4383G>C
13g.51934990C>TCA6988465ATP7Bc.*1814G>A (n.*1814G>A)
c.*2908G>A (n.*2908G>A)
c.3543G>A (p.Ala1181=)
c.4164G>A (p.Ala1388=)
c.3831G>A (p.Ala1277=)
c.3912G>A (p.Ala1304=)
n.1487G>A
c.3930G>A (p.Ala1310=)
n.4303G>A
n.1030G>A
c.3099G>A (p.Ala1033=)
c.2874G>A (p.Ala958=)
c.3969G>A (p.Ala1323=)
c.1942G>A
c.*1265G>A (n.*1265G>A)
n.4908G>A
n.3509G>A
c.4020G>A (p.Ala1340=)
c.4068G>A (p.Ala1356=)
c.4128G>A (p.Ala1376=)
c.3678G>A (p.Ala1226=)
c.1980G>A (p.Ala660=)
c.1797G>A (p.Ala599=)
c.4029G>A (p.Ala1343=)
c.3981G>A (p.Ala1327=)
c.3750G>A (p.Ala1250=)
c.3651G>A (p.Ala1217=)
c.2832G>A (p.Ala944=)
n.4383G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934991G>ACA6988466ATP7Bc.*1813C>T (n.*1813C>T)
c.*2907C>T (n.*2907C>T)
c.3542C>T (p.Ala1181Val)
c.4163C>T (p.Ala1388Val)
c.3830C>T (p.Ala1277Val)
c.3911C>T (p.Ala1304Val)
n.1486C>T
c.3929C>T (p.Ala1310Val)
n.4302C>T
n.1029C>T
c.3098C>T (p.Ala1033Val)
c.2873C>T (p.Ala958Val)
c.3968C>T (p.Ala1323Val)
c.1941C>T
c.*1264C>T (n.*1264C>T)
n.4907C>T
n.3508C>T
c.4019C>T (p.Ala1340Val)
c.4067C>T (p.Ala1356Val)
c.4127C>T (p.Ala1376Val)
c.3677C>T (p.Ala1226Val)
c.1979C>T (p.Ala660Val)
c.1796C>T (p.Ala599Val)
c.4028C>T (p.Ala1343Val)
c.3980C>T (p.Ala1327Val)
c.3749C>T (p.Ala1250Val)
c.3650C>T (p.Ala1217Val)
c.2831C>T (p.Ala944Val)
n.4382C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51934991G>CCA388019708ATP7Bc.*1813C>G (n.*1813C>G)
c.*2907C>G (n.*2907C>G)
c.3542C>G (p.Ala1181Gly)
c.4163C>G (p.Ala1388Gly)
c.3830C>G (p.Ala1277Gly)
c.3911C>G (p.Ala1304Gly)
n.1486C>G
c.3929C>G (p.Ala1310Gly)
n.4302C>G
n.1029C>G
c.3098C>G (p.Ala1033Gly)
c.2873C>G (p.Ala958Gly)
c.3968C>G (p.Ala1323Gly)
c.1941C>G
c.*1264C>G (n.*1264C>G)
n.4907C>G
n.3508C>G
c.4019C>G (p.Ala1340Gly)
c.4067C>G (p.Ala1356Gly)
c.4127C>G (p.Ala1376Gly)
c.3677C>G (p.Ala1226Gly)
c.1979C>G (p.Ala660Gly)
c.1796C>G (p.Ala599Gly)
c.4028C>G (p.Ala1343Gly)
c.3980C>G (p.Ala1327Gly)
c.3749C>G (p.Ala1250Gly)
c.3650C>G (p.Ala1217Gly)
c.2831C>G (p.Ala944Gly)
n.4382C>G
13g.51934991G=CA2091550563ATP7Bc.*1813C= (n.*1813C=)
c.*2907C= (n.*2907C=)
c.3542C= (p.Ala1181=)
c.4163C= (p.Ala1388=)
c.3830C= (p.Ala1277=)
c.3911C= (p.Ala1304=)
n.1486C=
c.3929C= (p.Ala1310=)
n.4302C=
n.1029C=
c.3098C= (p.Ala1033=)
c.2873C= (p.Ala958=)
c.3968C= (p.Ala1323=)
c.1941C=
c.*1264C= (n.*1264C=)
n.4907C=
n.3508C=
c.4019C= (p.Ala1340=)
c.4067C= (p.Ala1356=)
c.4127C= (p.Ala1376=)
c.3677C= (p.Ala1226=)
c.1979C= (p.Ala660=)
c.1796C= (p.Ala599=)
c.4028C= (p.Ala1343=)
c.3980C= (p.Ala1327=)
c.3749C= (p.Ala1250=)
c.3650C= (p.Ala1217=)
c.2831C= (p.Ala944=)
n.4382C=
13g.51934991G>TCA388019709ATP7Bc.*1813C>A (n.*1813C>A)
c.*2907C>A (n.*2907C>A)
c.3542C>A (p.Ala1181Glu)
c.4163C>A (p.Ala1388Glu)
c.3830C>A (p.Ala1277Glu)
c.3911C>A (p.Ala1304Glu)
n.1486C>A
c.3929C>A (p.Ala1310Glu)
n.4302C>A
n.1029C>A
c.3098C>A (p.Ala1033Glu)
c.2873C>A (p.Ala958Glu)
c.3968C>A (p.Ala1323Glu)
c.1941C>A
c.*1264C>A (n.*1264C>A)
n.4907C>A
n.3508C>A
c.4019C>A (p.Ala1340Glu)
c.4067C>A (p.Ala1356Glu)
c.4127C>A (p.Ala1376Glu)
c.3677C>A (p.Ala1226Glu)
c.1979C>A (p.Ala660Glu)
c.1796C>A (p.Ala599Glu)
c.4028C>A (p.Ala1343Glu)
c.3980C>A (p.Ala1327Glu)
c.3749C>A (p.Ala1250Glu)
c.3650C>A (p.Ala1217Glu)
c.2831C>A (p.Ala944Glu)
n.4382C>A
13g.51934992C>ACA388019710ATP7Bc.*1812G>T (n.*1812G>T)
c.*2906G>T (n.*2906G>T)
c.3541G>T (p.Ala1181Ser)
c.4162G>T (p.Ala1388Ser)
c.3829G>T (p.Ala1277Ser)
c.3910G>T (p.Ala1304Ser)
n.1485G>T
c.3928G>T (p.Ala1310Ser)
n.4301G>T
n.1028G>T
c.3097G>T (p.Ala1033Ser)
c.2872G>T (p.Ala958Ser)
c.3967G>T (p.Ala1323Ser)
c.1940G>T
c.*1263G>T (n.*1263G>T)
n.4906G>T
n.3507G>T
c.4018G>T (p.Ala1340Ser)
c.4066G>T (p.Ala1356Ser)
c.4126G>T (p.Ala1376Ser)
c.3676G>T (p.Ala1226Ser)
c.1978G>T (p.Ala660Ser)
c.1795G>T (p.Ala599Ser)
c.4027G>T (p.Ala1343Ser)
c.3979G>T (p.Ala1327Ser)
c.3748G>T (p.Ala1250Ser)
c.3649G>T (p.Ala1217Ser)
c.2830G>T (p.Ala944Ser)
n.4381G>T
13g.51934992C=CA2091550567ATP7Bc.*1812G= (n.*1812G=)
c.*2906G= (n.*2906G=)
c.3541G= (p.Ala1181=)
c.4162G= (p.Ala1388=)
c.3829G= (p.Ala1277=)
c.3910G= (p.Ala1304=)
n.1485G=
c.3928G= (p.Ala1310=)
n.4301G=
n.1028G=
c.3097G= (p.Ala1033=)
c.2872G= (p.Ala958=)
c.3967G= (p.Ala1323=)
c.1940G=
c.*1263G= (n.*1263G=)
n.4906G=
n.3507G=
c.4018G= (p.Ala1340=)
c.4066G= (p.Ala1356=)
c.4126G= (p.Ala1376=)
c.3676G= (p.Ala1226=)
c.1978G= (p.Ala660=)
c.1795G= (p.Ala599=)
c.4027G= (p.Ala1343=)
c.3979G= (p.Ala1327=)
c.3748G= (p.Ala1250=)
c.3649G= (p.Ala1217=)
c.2830G= (p.Ala944=)
n.4381G=
13g.51934992C>GCA388019711ATP7Bc.*1812G>C (n.*1812G>C)
c.*2906G>C (n.*2906G>C)
c.3541G>C (p.Ala1181Pro)
c.4162G>C (p.Ala1388Pro)
c.3829G>C (p.Ala1277Pro)
c.3910G>C (p.Ala1304Pro)
n.1485G>C
c.3928G>C (p.Ala1310Pro)
n.4301G>C
n.1028G>C
c.3097G>C (p.Ala1033Pro)
c.2872G>C (p.Ala958Pro)
c.3967G>C (p.Ala1323Pro)
c.1940G>C
c.*1263G>C (n.*1263G>C)
n.4906G>C
n.3507G>C
c.4018G>C (p.Ala1340Pro)
c.4066G>C (p.Ala1356Pro)
c.4126G>C (p.Ala1376Pro)
c.3676G>C (p.Ala1226Pro)
c.1978G>C (p.Ala660Pro)
c.1795G>C (p.Ala599Pro)
c.4027G>C (p.Ala1343Pro)
c.3979G>C (p.Ala1327Pro)
c.3748G>C (p.Ala1250Pro)
c.3649G>C (p.Ala1217Pro)
c.2830G>C (p.Ala944Pro)
n.4381G>C
13g.51934992C>TCA6988467ATP7Bc.*1812G>A (n.*1812G>A)
c.*2906G>A (n.*2906G>A)
c.3541G>A (p.Ala1181Thr)
c.4162G>A (p.Ala1388Thr)
c.3829G>A (p.Ala1277Thr)
c.3910G>A (p.Ala1304Thr)
n.1485G>A
c.3928G>A (p.Ala1310Thr)
n.4301G>A
n.1028G>A
c.3097G>A (p.Ala1033Thr)
c.2872G>A (p.Ala958Thr)
c.3967G>A (p.Ala1323Thr)
c.1940G>A
c.*1263G>A (n.*1263G>A)
n.4906G>A
n.3507G>A
c.4018G>A (p.Ala1340Thr)
c.4066G>A (p.Ala1356Thr)
c.4126G>A (p.Ala1376Thr)
c.3676G>A (p.Ala1226Thr)
c.1978G>A (p.Ala660Thr)
c.1795G>A (p.Ala599Thr)
c.4027G>A (p.Ala1343Thr)
c.3979G>A (p.Ala1327Thr)
c.3748G>A (p.Ala1250Thr)
c.3649G>A (p.Ala1217Thr)
c.2830G>A (p.Ala944Thr)
n.4381G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934993delCA2695218707ATP7Bc.*1812del (n.*1812del)
c.*2906del (n.*2906del)
c.3541del (p.Ala1181ArgfsTer5)
c.4162del (p.Ala1388ArgfsTer5)
c.3829del (p.Ala1277ArgfsTer5)
c.3910del (p.Ala1304ArgfsTer5)
n.1485del
c.3928del (p.Ala1310ArgfsTer5)
n.4301del
n.1028del
c.3097del (p.Ala1033ArgfsTer5)
c.2872del (p.Ala958ArgfsTer5)
c.3967del (p.Ala1323ArgfsTer5)
c.1940del
c.*1263del (n.*1263del)
n.4906del
n.3507del
c.4018del (p.Ala1340ArgfsTer5)
c.4066del (p.Ala1356ArgfsTer5)
c.4126del (p.Ala1376ArgfsTer5)
c.3676del (p.Ala1226ArgfsTer5)
c.1978del (p.Ala660ArgfsTer5)
c.1795del (p.Ala599ArgfsTer5)
c.4027del (p.Ala1343ArgfsTer5)
c.3979del (p.Ala1327ArgfsTer5)
c.3748del (p.Ala1250ArgfsTer5)
c.3649del (p.Ala1217ArgfsTer5)
c.2830del (p.Ala944ArgfsTer5)
n.4381del
13g.51934993C>ACA388019712ATP7Bc.*1811G>T (n.*1811G>T)
c.*2905G>T (n.*2905G>T)
c.3540G>T (p.Gln1180His)
c.4161G>T (p.Gln1387His)
c.3828G>T (p.Gln1276His)
c.3909G>T (p.Gln1303His)
n.1484G>T
c.3927G>T (p.Gln1309His)
n.4300G>T
n.1027G>T
c.3096G>T (p.Gln1032His)
c.2871G>T (p.Gln957His)
c.3966G>T (p.Gln1322His)
c.1939G>T
c.*1262G>T (n.*1262G>T)
n.4905G>T
n.3506G>T
c.4017G>T (p.Gln1339His)
c.4065G>T (p.Gln1355His)
c.4125G>T (p.Gln1375His)
c.3675G>T (p.Gln1225His)
c.1977G>T (p.Gln659His)
c.1794G>T (p.Gln598His)
c.4026G>T (p.Gln1342His)
c.3978G>T (p.Gln1326His)
c.3747G>T (p.Gln1249His)
c.3648G>T (p.Gln1216His)
c.2829G>T (p.Gln943His)
n.4380G>T
13g.51934993C>GCA388019714ATP7Bc.*1811G>C (n.*1811G>C)
c.*2905G>C (n.*2905G>C)
c.3540G>C (p.Gln1180His)
c.4161G>C (p.Gln1387His)
c.3828G>C (p.Gln1276His)
c.3909G>C (p.Gln1303His)
n.1484G>C
c.3927G>C (p.Gln1309His)
n.4300G>C
n.1027G>C
c.3096G>C (p.Gln1032His)
c.2871G>C (p.Gln957His)
c.3966G>C (p.Gln1322His)
c.1939G>C
c.*1262G>C (n.*1262G>C)
n.4905G>C
n.3506G>C
c.4017G>C (p.Gln1339His)
c.4065G>C (p.Gln1355His)
c.4125G>C (p.Gln1375His)
c.3675G>C (p.Gln1225His)
c.1977G>C (p.Gln659His)
c.1794G>C (p.Gln598His)
c.4026G>C (p.Gln1342His)
c.3978G>C (p.Gln1326His)
c.3747G>C (p.Gln1249His)
c.3648G>C (p.Gln1216His)
c.2829G>C (p.Gln943His)
n.4380G>C
13g.51934993C>TCA484024217ATP7Bc.*1811G>A (n.*1811G>A)
c.*2905G>A (n.*2905G>A)
c.3540G>A (p.Gln1180=)
c.4161G>A (p.Gln1387=)
c.3828G>A (p.Gln1276=)
c.3909G>A (p.Gln1303=)
n.1484G>A
c.3927G>A (p.Gln1309=)
n.4300G>A
n.1027G>A
c.3096G>A (p.Gln1032=)
c.2871G>A (p.Gln957=)
c.3966G>A (p.Gln1322=)
c.1939G>A
c.*1262G>A (n.*1262G>A)
n.4905G>A
n.3506G>A
c.4017G>A (p.Gln1339=)
c.4065G>A (p.Gln1355=)
c.4125G>A (p.Gln1375=)
c.3675G>A (p.Gln1225=)
c.1977G>A (p.Gln659=)
c.1794G>A (p.Gln598=)
c.4026G>A (p.Gln1342=)
c.3978G>A (p.Gln1326=)
c.3747G>A (p.Gln1249=)
c.3648G>A (p.Gln1216=)
c.2829G>A (p.Gln943=)
n.4380G>A
 ClinVar
13g.51934994T>ACA388019716ATP7Bc.*1810A>T (n.*1810A>T)
c.*2904A>T (n.*2904A>T)
c.3539A>T (p.Gln1180Leu)
c.4160A>T (p.Gln1387Leu)
c.3827A>T (p.Gln1276Leu)
c.3908A>T (p.Gln1303Leu)
n.1483A>T
c.3926A>T (p.Gln1309Leu)
n.4299A>T
n.1026A>T
c.3095A>T (p.Gln1032Leu)
c.2870A>T (p.Gln957Leu)
c.3965A>T (p.Gln1322Leu)
c.1938A>T
c.*1261A>T (n.*1261A>T)
n.4904A>T
n.3505A>T
c.4016A>T (p.Gln1339Leu)
c.4064A>T (p.Gln1355Leu)
c.4124A>T (p.Gln1375Leu)
c.3674A>T (p.Gln1225Leu)
c.1976A>T (p.Gln659Leu)
c.1793A>T (p.Gln598Leu)
c.4025A>T (p.Gln1342Leu)
c.3977A>T (p.Gln1326Leu)
c.3746A>T (p.Gln1249Leu)
c.3647A>T (p.Gln1216Leu)
c.2828A>T (p.Gln943Leu)
n.4379A>T
13g.51934994T>CCA388019718ATP7Bc.*1810A>G (n.*1810A>G)
c.*2904A>G (n.*2904A>G)
c.3539A>G (p.Gln1180Arg)
c.4160A>G (p.Gln1387Arg)
c.3827A>G (p.Gln1276Arg)
c.3908A>G (p.Gln1303Arg)
n.1483A>G
c.3926A>G (p.Gln1309Arg)
n.4299A>G
n.1026A>G
c.3095A>G (p.Gln1032Arg)
c.2870A>G (p.Gln957Arg)
c.3965A>G (p.Gln1322Arg)
c.1938A>G
c.*1261A>G (n.*1261A>G)
n.4904A>G
n.3505A>G
c.4016A>G (p.Gln1339Arg)
c.4064A>G (p.Gln1355Arg)
c.4124A>G (p.Gln1375Arg)
c.3674A>G (p.Gln1225Arg)
c.1976A>G (p.Gln659Arg)
c.1793A>G (p.Gln598Arg)
c.4025A>G (p.Gln1342Arg)
c.3977A>G (p.Gln1326Arg)
c.3746A>G (p.Gln1249Arg)
c.3647A>G (p.Gln1216Arg)
c.2828A>G (p.Gln943Arg)
n.4379A>G
13g.51934994T>GCA388019719ATP7Bc.*1810A>C (n.*1810A>C)
c.*2904A>C (n.*2904A>C)
c.3539A>C (p.Gln1180Pro)
c.4160A>C (p.Gln1387Pro)
c.3827A>C (p.Gln1276Pro)
c.3908A>C (p.Gln1303Pro)
n.1483A>C
c.3926A>C (p.Gln1309Pro)
n.4299A>C
n.1026A>C
c.3095A>C (p.Gln1032Pro)
c.2870A>C (p.Gln957Pro)
c.3965A>C (p.Gln1322Pro)
c.1938A>C
c.*1261A>C (n.*1261A>C)
n.4904A>C
n.3505A>C
c.4016A>C (p.Gln1339Pro)
c.4064A>C (p.Gln1355Pro)
c.4124A>C (p.Gln1375Pro)
c.3674A>C (p.Gln1225Pro)
c.1976A>C (p.Gln659Pro)
c.1793A>C (p.Gln598Pro)
c.4025A>C (p.Gln1342Pro)
c.3977A>C (p.Gln1326Pro)
c.3746A>C (p.Gln1249Pro)
c.3647A>C (p.Gln1216Pro)
c.2828A>C (p.Gln943Pro)
n.4379A>C
13g.51934995G>ACA388019720ATP7Bc.*1809C>T (n.*1809C>T)
c.*2903C>T (n.*2903C>T)
c.3538C>T (p.Gln1180Ter)
c.4159C>T (p.Gln1387Ter)
c.3826C>T (p.Gln1276Ter)
c.3907C>T (p.Gln1303Ter)
n.1482C>T
c.3925C>T (p.Gln1309Ter)
n.4298C>T
n.1025C>T
c.3094C>T (p.Gln1032Ter)
c.2869C>T (p.Gln957Ter)
c.3964C>T (p.Gln1322Ter)
c.1937C>T
c.*1260C>T (n.*1260C>T)
n.4903C>T
n.3504C>T
c.4015C>T (p.Gln1339Ter)
c.4063C>T (p.Gln1355Ter)
c.4123C>T (p.Gln1375Ter)
c.3673C>T (p.Gln1225Ter)
c.1975C>T (p.Gln659Ter)
c.1792C>T (p.Gln598Ter)
c.4024C>T (p.Gln1342Ter)
c.3976C>T (p.Gln1326Ter)
c.3745C>T (p.Gln1249Ter)
c.3646C>T (p.Gln1216Ter)
c.2827C>T (p.Gln943Ter)
n.4378C>T
13g.51934995G>CCA388019722ATP7Bc.*1809C>G (n.*1809C>G)
c.*2903C>G (n.*2903C>G)
c.3538C>G (p.Gln1180Glu)
c.4159C>G (p.Gln1387Glu)
c.3826C>G (p.Gln1276Glu)
c.3907C>G (p.Gln1303Glu)
n.1482C>G
c.3925C>G (p.Gln1309Glu)
n.4298C>G
n.1025C>G
c.3094C>G (p.Gln1032Glu)
c.2869C>G (p.Gln957Glu)
c.3964C>G (p.Gln1322Glu)
c.1937C>G
c.*1260C>G (n.*1260C>G)
n.4903C>G
n.3504C>G
c.4015C>G (p.Gln1339Glu)
c.4063C>G (p.Gln1355Glu)
c.4123C>G (p.Gln1375Glu)
c.3673C>G (p.Gln1225Glu)
c.1975C>G (p.Gln659Glu)
c.1792C>G (p.Gln598Glu)
c.4024C>G (p.Gln1342Glu)
c.3976C>G (p.Gln1326Glu)
c.3745C>G (p.Gln1249Glu)
c.3646C>G (p.Gln1216Glu)
c.2827C>G (p.Gln943Glu)
n.4378C>G
 gnomAD v4
13g.51934995G>TCA388019721ATP7Bc.*1809C>A (n.*1809C>A)
c.*2903C>A (n.*2903C>A)
c.3538C>A (p.Gln1180Lys)
c.4159C>A (p.Gln1387Lys)
c.3826C>A (p.Gln1276Lys)
c.3907C>A (p.Gln1303Lys)
n.1482C>A
c.3925C>A (p.Gln1309Lys)
n.4298C>A
n.1025C>A
c.3094C>A (p.Gln1032Lys)
c.2869C>A (p.Gln957Lys)
c.3964C>A (p.Gln1322Lys)
c.1937C>A
c.*1260C>A (n.*1260C>A)
n.4903C>A
n.3504C>A
c.4015C>A (p.Gln1339Lys)
c.4063C>A (p.Gln1355Lys)
c.4123C>A (p.Gln1375Lys)
c.3673C>A (p.Gln1225Lys)
c.1975C>A (p.Gln659Lys)
c.1792C>A (p.Gln598Lys)
c.4024C>A (p.Gln1342Lys)
c.3976C>A (p.Gln1326Lys)
c.3745C>A (p.Gln1249Lys)
c.3646C>A (p.Gln1216Lys)
c.2827C>A (p.Gln943Lys)
n.4378C>A
13g.51934996T>ACA484024218ATP7Bc.*1808A>T (n.*1808A>T)
c.*2902A>T (n.*2902A>T)
c.3537A>T (p.Ala1179=)
c.4158A>T (p.Ala1386=)
c.3825A>T (p.Ala1275=)
c.3906A>T (p.Ala1302=)
n.1481A>T
c.3924A>T (p.Ala1308=)
n.4297A>T
n.1024A>T
c.3093A>T (p.Ala1031=)
c.2868A>T (p.Ala956=)
c.3963A>T (p.Ala1321=)
c.1936A>T
c.*1259A>T (n.*1259A>T)
n.4902A>T
n.3503A>T
c.4014A>T (p.Ala1338=)
c.4062A>T (p.Ala1354=)
c.4122A>T (p.Ala1374=)
c.3672A>T (p.Ala1224=)
c.1974A>T (p.Ala658=)
c.1791A>T (p.Ala597=)
c.4023A>T (p.Ala1341=)
c.3975A>T (p.Ala1325=)
c.3744A>T (p.Ala1248=)
c.3645A>T (p.Ala1215=)
c.2826A>T (p.Ala942=)
n.4377A>T
13g.51934996T>CCA484024219ATP7Bc.*1808A>G (n.*1808A>G)
c.*2902A>G (n.*2902A>G)
c.3537A>G (p.Ala1179=)
c.4158A>G (p.Ala1386=)
c.3825A>G (p.Ala1275=)
c.3906A>G (p.Ala1302=)
n.1481A>G
c.3924A>G (p.Ala1308=)
n.4297A>G
n.1024A>G
c.3093A>G (p.Ala1031=)
c.2868A>G (p.Ala956=)
c.3963A>G (p.Ala1321=)
c.1936A>G
c.*1259A>G (n.*1259A>G)
n.4902A>G
n.3503A>G
c.4014A>G (p.Ala1338=)
c.4062A>G (p.Ala1354=)
c.4122A>G (p.Ala1374=)
c.3672A>G (p.Ala1224=)
c.1974A>G (p.Ala658=)
c.1791A>G (p.Ala597=)
c.4023A>G (p.Ala1341=)
c.3975A>G (p.Ala1325=)
c.3744A>G (p.Ala1248=)
c.3645A>G (p.Ala1215=)
c.2826A>G (p.Ala942=)
n.4377A>G
 dbSNP gnomAD v4
13g.51934996T>GCA484024220ATP7Bc.*1808A>C (n.*1808A>C)
c.*2902A>C (n.*2902A>C)
c.3537A>C (p.Ala1179=)
c.4158A>C (p.Ala1386=)
c.3825A>C (p.Ala1275=)
c.3906A>C (p.Ala1302=)
n.1481A>C
c.3924A>C (p.Ala1308=)
n.4297A>C
n.1024A>C
c.3093A>C (p.Ala1031=)
c.2868A>C (p.Ala956=)
c.3963A>C (p.Ala1321=)
c.1936A>C
c.*1259A>C (n.*1259A>C)
n.4902A>C
n.3503A>C
c.4014A>C (p.Ala1338=)
c.4062A>C (p.Ala1354=)
c.4122A>C (p.Ala1374=)
c.3672A>C (p.Ala1224=)
c.1974A>C (p.Ala658=)
c.1791A>C (p.Ala597=)
c.4023A>C (p.Ala1341=)
c.3975A>C (p.Ala1325=)
c.3744A>C (p.Ala1248=)
c.3645A>C (p.Ala1215=)
c.2826A>C (p.Ala942=)
n.4377A>C
13g.51934996T=CA2091550570ATP7Bc.*1808A= (n.*1808A=)
c.*2902A= (n.*2902A=)
c.3537A= (p.Ala1179=)
c.4158A= (p.Ala1386=)
c.3825A= (p.Ala1275=)
c.3906A= (p.Ala1302=)
n.1481A=
c.3924A= (p.Ala1308=)
n.4297A=
n.1024A=
c.3093A= (p.Ala1031=)
c.2868A= (p.Ala956=)
c.3963A= (p.Ala1321=)
c.1936A=
c.*1259A= (n.*1259A=)
n.4902A=
n.3503A=
c.4014A= (p.Ala1338=)
c.4062A= (p.Ala1354=)
c.4122A= (p.Ala1374=)
c.3672A= (p.Ala1224=)
c.1974A= (p.Ala658=)
c.1791A= (p.Ala597=)
c.4023A= (p.Ala1341=)
c.3975A= (p.Ala1325=)
c.3744A= (p.Ala1248=)
c.3645A= (p.Ala1215=)
c.2826A= (p.Ala942=)
n.4377A=
13g.51934997G>ACA388019724ATP7Bc.*1807C>T (n.*1807C>T)
c.*2901C>T (n.*2901C>T)
c.3536C>T (p.Ala1179Val)
c.4157C>T (p.Ala1386Val)
c.3824C>T (p.Ala1275Val)
c.3905C>T (p.Ala1302Val)
n.1480C>T
c.3923C>T (p.Ala1308Val)
n.4296C>T
n.1023C>T
c.3092C>T (p.Ala1031Val)
c.2867C>T (p.Ala956Val)
c.3962C>T (p.Ala1321Val)
c.1935C>T
c.*1258C>T (n.*1258C>T)
n.4901C>T
n.3502C>T
c.4013C>T (p.Ala1338Val)
c.4061C>T (p.Ala1354Val)
c.4121C>T (p.Ala1374Val)
c.3671C>T (p.Ala1224Val)
c.1973C>T (p.Ala658Val)
c.1790C>T (p.Ala597Val)
c.4022C>T (p.Ala1341Val)
c.3974C>T (p.Ala1325Val)
c.3743C>T (p.Ala1248Val)
c.3644C>T (p.Ala1215Val)
c.2825C>T (p.Ala942Val)
n.4376C>T
 dbSNP
13g.51934997G>CCA388019726ATP7Bc.*1807C>G (n.*1807C>G)
c.*2901C>G (n.*2901C>G)
c.3536C>G (p.Ala1179Gly)
c.4157C>G (p.Ala1386Gly)
c.3824C>G (p.Ala1275Gly)
c.3905C>G (p.Ala1302Gly)
n.1480C>G
c.3923C>G (p.Ala1308Gly)
n.4296C>G
n.1023C>G
c.3092C>G (p.Ala1031Gly)
c.2867C>G (p.Ala956Gly)
c.3962C>G (p.Ala1321Gly)
c.1935C>G
c.*1258C>G (n.*1258C>G)
n.4901C>G
n.3502C>G
c.4013C>G (p.Ala1338Gly)
c.4061C>G (p.Ala1354Gly)
c.4121C>G (p.Ala1374Gly)
c.3671C>G (p.Ala1224Gly)
c.1973C>G (p.Ala658Gly)
c.1790C>G (p.Ala597Gly)
c.4022C>G (p.Ala1341Gly)
c.3974C>G (p.Ala1325Gly)
c.3743C>G (p.Ala1248Gly)
c.3644C>G (p.Ala1215Gly)
c.2825C>G (p.Ala942Gly)
n.4376C>G
13g.51934997G=CA2091550572ATP7Bc.*1807C= (n.*1807C=)
c.*2901C= (n.*2901C=)
c.3536C= (p.Ala1179=)
c.4157C= (p.Ala1386=)
c.3824C= (p.Ala1275=)
c.3905C= (p.Ala1302=)
n.1480C=
c.3923C= (p.Ala1308=)
n.4296C=
n.1023C=
c.3092C= (p.Ala1031=)
c.2867C= (p.Ala956=)
c.3962C= (p.Ala1321=)
c.1935C=
c.*1258C= (n.*1258C=)
n.4901C=
n.3502C=
c.4013C= (p.Ala1338=)
c.4061C= (p.Ala1354=)
c.4121C= (p.Ala1374=)
c.3671C= (p.Ala1224=)
c.1973C= (p.Ala658=)
c.1790C= (p.Ala597=)
c.4022C= (p.Ala1341=)
c.3974C= (p.Ala1325=)
c.3743C= (p.Ala1248=)
c.3644C= (p.Ala1215=)
c.2825C= (p.Ala942=)
n.4376C=
13g.51934997G>TCA388019728ATP7Bc.*1807C>A (n.*1807C>A)
c.*2901C>A (n.*2901C>A)
c.3536C>A (p.Ala1179Glu)
c.4157C>A (p.Ala1386Glu)
c.3824C>A (p.Ala1275Glu)
c.3905C>A (p.Ala1302Glu)
n.1480C>A
c.3923C>A (p.Ala1308Glu)
n.4296C>A
n.1023C>A
c.3092C>A (p.Ala1031Glu)
c.2867C>A (p.Ala956Glu)
c.3962C>A (p.Ala1321Glu)
c.1935C>A
c.*1258C>A (n.*1258C>A)
n.4901C>A
n.3502C>A
c.4013C>A (p.Ala1338Glu)
c.4061C>A (p.Ala1354Glu)
c.4121C>A (p.Ala1374Glu)
c.3671C>A (p.Ala1224Glu)
c.1973C>A (p.Ala658Glu)
c.1790C>A (p.Ala597Glu)
c.4022C>A (p.Ala1341Glu)
c.3974C>A (p.Ala1325Glu)
c.3743C>A (p.Ala1248Glu)
c.3644C>A (p.Ala1215Glu)
c.2825C>A (p.Ala942Glu)
n.4376C>A
13g.51934998C>ACA388019730ATP7Bc.*1806G>T (n.*1806G>T)
c.*2900G>T (n.*2900G>T)
c.3535G>T (p.Ala1179Ser)
c.4156G>T (p.Ala1386Ser)
c.3823G>T (p.Ala1275Ser)
c.3904G>T (p.Ala1302Ser)
n.1479G>T
c.3922G>T (p.Ala1308Ser)
n.4295G>T
n.1022G>T
c.3091G>T (p.Ala1031Ser)
c.2866G>T (p.Ala956Ser)
c.3961G>T (p.Ala1321Ser)
c.1934G>T
c.*1257G>T (n.*1257G>T)
n.4900G>T
n.3501G>T
c.4012G>T (p.Ala1338Ser)
c.4060G>T (p.Ala1354Ser)
c.4120G>T (p.Ala1374Ser)
c.3670G>T (p.Ala1224Ser)
c.1972G>T (p.Ala658Ser)
c.1789G>T (p.Ala597Ser)
c.4021G>T (p.Ala1341Ser)
c.3973G>T (p.Ala1325Ser)
c.3742G>T (p.Ala1248Ser)
c.3643G>T (p.Ala1215Ser)
c.2824G>T (p.Ala942Ser)
n.4375G>T
13g.51934998C>GCA388019731ATP7Bc.*1806G>C (n.*1806G>C)
c.*2900G>C (n.*2900G>C)
c.3535G>C (p.Ala1179Pro)
c.4156G>C (p.Ala1386Pro)
c.3823G>C (p.Ala1275Pro)
c.3904G>C (p.Ala1302Pro)
n.1479G>C
c.3922G>C (p.Ala1308Pro)
n.4295G>C
n.1022G>C
c.3091G>C (p.Ala1031Pro)
c.2866G>C (p.Ala956Pro)
c.3961G>C (p.Ala1321Pro)
c.1934G>C
c.*1257G>C (n.*1257G>C)
n.4900G>C
n.3501G>C
c.4012G>C (p.Ala1338Pro)
c.4060G>C (p.Ala1354Pro)
c.4120G>C (p.Ala1374Pro)
c.3670G>C (p.Ala1224Pro)
c.1972G>C (p.Ala658Pro)
c.1789G>C (p.Ala597Pro)
c.4021G>C (p.Ala1341Pro)
c.3973G>C (p.Ala1325Pro)
c.3742G>C (p.Ala1248Pro)
c.3643G>C (p.Ala1215Pro)
c.2824G>C (p.Ala942Pro)
n.4375G>C
13g.51934998C>TCA388019733ATP7Bc.*1806G>A (n.*1806G>A)
c.*2900G>A (n.*2900G>A)
c.3535G>A (p.Ala1179Thr)
c.4156G>A (p.Ala1386Thr)
c.3823G>A (p.Ala1275Thr)
c.3904G>A (p.Ala1302Thr)
n.1479G>A
c.3922G>A (p.Ala1308Thr)
n.4295G>A
n.1022G>A
c.3091G>A (p.Ala1031Thr)
c.2866G>A (p.Ala956Thr)
c.3961G>A (p.Ala1321Thr)
c.1934G>A
c.*1257G>A (n.*1257G>A)
n.4900G>A
n.3501G>A
c.4012G>A (p.Ala1338Thr)
c.4060G>A (p.Ala1354Thr)
c.4120G>A (p.Ala1374Thr)
c.3670G>A (p.Ala1224Thr)
c.1972G>A (p.Ala658Thr)
c.1789G>A (p.Ala597Thr)
c.4021G>A (p.Ala1341Thr)
c.3973G>A (p.Ala1325Thr)
c.3742G>A (p.Ala1248Thr)
c.3643G>A (p.Ala1215Thr)
c.2824G>A (p.Ala942Thr)
n.4375G>A
 gnomAD v4
13g.51934999C>ACA388019735ATP7Bc.*1805G>T (n.*1805G>T)
c.*2899G>T (n.*2899G>T)
c.3534G>T (p.Glu1178Asp)
c.4155G>T (p.Glu1385Asp)
c.3822G>T (p.Glu1274Asp)
c.3903G>T (p.Glu1301Asp)
n.1478G>T
c.3921G>T (p.Glu1307Asp)
n.4294G>T
n.1021G>T
c.3090G>T (p.Glu1030Asp)
c.2865G>T (p.Glu955Asp)
c.3960G>T (p.Glu1320Asp)
c.1933G>T
c.*1256G>T (n.*1256G>T)
n.4899G>T
n.3500G>T
c.4011G>T (p.Glu1337Asp)
c.4059G>T (p.Glu1353Asp)
c.4119G>T (p.Glu1373Asp)
c.3669G>T (p.Glu1223Asp)
c.1971G>T (p.Glu657Asp)
c.1788G>T (p.Glu596Asp)
c.4020G>T (p.Glu1340Asp)
c.3972G>T (p.Glu1324Asp)
c.3741G>T (p.Glu1247Asp)
c.3642G>T (p.Glu1214Asp)
c.2823G>T (p.Glu941Asp)
n.4374G>T
13g.51934999C>GCA388019737ATP7Bc.*1805G>C (n.*1805G>C)
c.*2899G>C (n.*2899G>C)
c.3534G>C (p.Glu1178Asp)
c.4155G>C (p.Glu1385Asp)
c.3822G>C (p.Glu1274Asp)
c.3903G>C (p.Glu1301Asp)
n.1478G>C
c.3921G>C (p.Glu1307Asp)
n.4294G>C
n.1021G>C
c.3090G>C (p.Glu1030Asp)
c.2865G>C (p.Glu955Asp)
c.3960G>C (p.Glu1320Asp)
c.1933G>C
c.*1256G>C (n.*1256G>C)
n.4899G>C
n.3500G>C
c.4011G>C (p.Glu1337Asp)
c.4059G>C (p.Glu1353Asp)
c.4119G>C (p.Glu1373Asp)
c.3669G>C (p.Glu1223Asp)
c.1971G>C (p.Glu657Asp)
c.1788G>C (p.Glu596Asp)
c.4020G>C (p.Glu1340Asp)
c.3972G>C (p.Glu1324Asp)
c.3741G>C (p.Glu1247Asp)
c.3642G>C (p.Glu1214Asp)
c.2823G>C (p.Glu941Asp)
n.4374G>C
13g.51934999C>TCA484024221ATP7Bc.*1805G>A (n.*1805G>A)
c.*2899G>A (n.*2899G>A)
c.3534G>A (p.Glu1178=)
c.4155G>A (p.Glu1385=)
c.3822G>A (p.Glu1274=)
c.3903G>A (p.Glu1301=)
n.1478G>A
c.3921G>A (p.Glu1307=)
n.4294G>A
n.1021G>A
c.3090G>A (p.Glu1030=)
c.2865G>A (p.Glu955=)
c.3960G>A (p.Glu1320=)
c.1933G>A
c.*1256G>A (n.*1256G>A)
n.4899G>A
n.3500G>A
c.4011G>A (p.Glu1337=)
c.4059G>A (p.Glu1353=)
c.4119G>A (p.Glu1373=)
c.3669G>A (p.Glu1223=)
c.1971G>A (p.Glu657=)
c.1788G>A (p.Glu596=)
c.4020G>A (p.Glu1340=)
c.3972G>A (p.Glu1324=)
c.3741G>A (p.Glu1247=)
c.3642G>A (p.Glu1214=)
c.2823G>A (p.Glu941=)
n.4374G>A
 gnomAD v4
13g.51935000T>ACA388019738ATP7Bc.*1804A>T (n.*1804A>T)
c.*2898A>T (n.*2898A>T)
c.3533A>T (p.Glu1178Val)
c.4154A>T (p.Glu1385Val)
c.3821A>T (p.Glu1274Val)
c.3902A>T (p.Glu1301Val)
n.1477A>T
c.3920A>T (p.Glu1307Val)
n.4293A>T
n.1020A>T
c.3089A>T (p.Glu1030Val)
c.2864A>T (p.Glu955Val)
c.3959A>T (p.Glu1320Val)
c.1932A>T
c.*1255A>T (n.*1255A>T)
n.4898A>T
n.3499A>T
c.4010A>T (p.Glu1337Val)
c.4058A>T (p.Glu1353Val)
c.4118A>T (p.Glu1373Val)
c.3668A>T (p.Glu1223Val)
c.1970A>T (p.Glu657Val)
c.1787A>T (p.Glu596Val)
c.4019A>T (p.Glu1340Val)
c.3971A>T (p.Glu1324Val)
c.3740A>T (p.Glu1247Val)
c.3641A>T (p.Glu1214Val)
c.2822A>T (p.Glu941Val)
n.4373A>T
 gnomAD v4
13g.51935000T>CCA388019742ATP7Bc.*1804A>G (n.*1804A>G)
c.*2898A>G (n.*2898A>G)
c.3533A>G (p.Glu1178Gly)
c.4154A>G (p.Glu1385Gly)
c.3821A>G (p.Glu1274Gly)
c.3902A>G (p.Glu1301Gly)
n.1477A>G
c.3920A>G (p.Glu1307Gly)
n.4293A>G
n.1020A>G
c.3089A>G (p.Glu1030Gly)
c.2864A>G (p.Glu955Gly)
c.3959A>G (p.Glu1320Gly)
c.1932A>G
c.*1255A>G (n.*1255A>G)
n.4898A>G
n.3499A>G
c.4010A>G (p.Glu1337Gly)
c.4058A>G (p.Glu1353Gly)
c.4118A>G (p.Glu1373Gly)
c.3668A>G (p.Glu1223Gly)
c.1970A>G (p.Glu657Gly)
c.1787A>G (p.Glu596Gly)
c.4019A>G (p.Glu1340Gly)
c.3971A>G (p.Glu1324Gly)
c.3740A>G (p.Glu1247Gly)
c.3641A>G (p.Glu1214Gly)
c.2822A>G (p.Glu941Gly)
n.4373A>G
13g.51935000T>GCA388019740ATP7Bc.*1804A>C (n.*1804A>C)
c.*2898A>C (n.*2898A>C)
c.3533A>C (p.Glu1178Ala)
c.4154A>C (p.Glu1385Ala)
c.3821A>C (p.Glu1274Ala)
c.3902A>C (p.Glu1301Ala)
n.1477A>C
c.3920A>C (p.Glu1307Ala)
n.4293A>C
n.1020A>C
c.3089A>C (p.Glu1030Ala)
c.2864A>C (p.Glu955Ala)
c.3959A>C (p.Glu1320Ala)
c.1932A>C
c.*1255A>C (n.*1255A>C)
n.4898A>C
n.3499A>C
c.4010A>C (p.Glu1337Ala)
c.4058A>C (p.Glu1353Ala)
c.4118A>C (p.Glu1373Ala)
c.3668A>C (p.Glu1223Ala)
c.1970A>C (p.Glu657Ala)
c.1787A>C (p.Glu596Ala)
c.4019A>C (p.Glu1340Ala)
c.3971A>C (p.Glu1324Ala)
c.3740A>C (p.Glu1247Ala)
c.3641A>C (p.Glu1214Ala)
c.2822A>C (p.Glu941Ala)
n.4373A>C
13g.51935001C>ACA388019743ATP7Bc.*1803G>T (n.*1803G>T)
c.*2897G>T (n.*2897G>T)
c.3532G>T (p.Glu1178Ter)
c.4153G>T (p.Glu1385Ter)
c.3820G>T (p.Glu1274Ter)
c.3901G>T (p.Glu1301Ter)
n.1476G>T
c.3919G>T (p.Glu1307Ter)
n.4292G>T
n.1019G>T
c.3088G>T (p.Glu1030Ter)
c.2863G>T (p.Glu955Ter)
c.3958G>T (p.Glu1320Ter)
c.1931G>T
c.*1254G>T (n.*1254G>T)
n.4897G>T
n.3498G>T
c.4009G>T (p.Glu1337Ter)
c.4057G>T (p.Glu1353Ter)
c.4117G>T (p.Glu1373Ter)
c.3667G>T (p.Glu1223Ter)
c.1969G>T (p.Glu657Ter)
c.1786G>T (p.Glu596Ter)
c.4018G>T (p.Glu1340Ter)
c.3970G>T (p.Glu1324Ter)
c.3739G>T (p.Glu1247Ter)
c.3640G>T (p.Glu1214Ter)
c.2821G>T (p.Glu941Ter)
n.4372G>T
13g.51935001C>GCA388019745ATP7Bc.*1803G>C (n.*1803G>C)
c.*2897G>C (n.*2897G>C)
c.3532G>C (p.Glu1178Gln)
c.4153G>C (p.Glu1385Gln)
c.3820G>C (p.Glu1274Gln)
c.3901G>C (p.Glu1301Gln)
n.1476G>C
c.3919G>C (p.Glu1307Gln)
n.4292G>C
n.1019G>C
c.3088G>C (p.Glu1030Gln)
c.2863G>C (p.Glu955Gln)
c.3958G>C (p.Glu1320Gln)
c.1931G>C
c.*1254G>C (n.*1254G>C)
n.4897G>C
n.3498G>C
c.4009G>C (p.Glu1337Gln)
c.4057G>C (p.Glu1353Gln)
c.4117G>C (p.Glu1373Gln)
c.3667G>C (p.Glu1223Gln)
c.1969G>C (p.Glu657Gln)
c.1786G>C (p.Glu596Gln)
c.4018G>C (p.Glu1340Gln)
c.3970G>C (p.Glu1324Gln)
c.3739G>C (p.Glu1247Gln)
c.3640G>C (p.Glu1214Gln)
c.2821G>C (p.Glu941Gln)
n.4372G>C
13g.51935001C>TCA388019747ATP7Bc.*1803G>A (n.*1803G>A)
c.*2897G>A (n.*2897G>A)
c.3532G>A (p.Glu1178Lys)
c.4153G>A (p.Glu1385Lys)
c.3820G>A (p.Glu1274Lys)
c.3901G>A (p.Glu1301Lys)
n.1476G>A
c.3919G>A (p.Glu1307Lys)
n.4292G>A
n.1019G>A
c.3088G>A (p.Glu1030Lys)
c.2863G>A (p.Glu955Lys)
c.3958G>A (p.Glu1320Lys)
c.1931G>A
c.*1254G>A (n.*1254G>A)
n.4897G>A
n.3498G>A
c.4009G>A (p.Glu1337Lys)
c.4057G>A (p.Glu1353Lys)
c.4117G>A (p.Glu1373Lys)
c.3667G>A (p.Glu1223Lys)
c.1969G>A (p.Glu657Lys)
c.1786G>A (p.Glu596Lys)
c.4018G>A (p.Glu1340Lys)
c.3970G>A (p.Glu1324Lys)
c.3739G>A (p.Glu1247Lys)
c.3640G>A (p.Glu1214Lys)
c.2821G>A (p.Glu941Lys)
n.4372G>A
13g.51935001dupCA2695218708ATP7Bc.*1803dup (n.*1803dup)
c.*2897dup (n.*2897dup)
c.3532dup (p.Glu1178GlyfsTer24)
c.4153dup (p.Glu1385GlyfsTer24)
c.3820dup (p.Glu1274GlyfsTer24)
c.3901dup (p.Glu1301GlyfsTer24)
n.1476dup
c.3919dup (p.Glu1307GlyfsTer24)
n.4292dup
n.1019dup
c.3088dup (p.Glu1030GlyfsTer24)
c.2863dup (p.Glu955GlyfsTer24)
c.3958dup (p.Glu1320GlyfsTer24)
c.1931dup
c.*1254dup (n.*1254dup)
n.4897dup
n.3498dup
c.4009dup (p.Glu1337GlyfsTer24)
c.4057dup (p.Glu1353GlyfsTer24)
c.4117dup (p.Glu1373GlyfsTer24)
c.3667dup (p.Glu1223GlyfsTer24)
c.1969dup (p.Glu657GlyfsTer24)
c.1786dup (p.Glu596GlyfsTer24)
c.4018dup (p.Glu1340GlyfsTer24)
c.3970dup (p.Glu1324GlyfsTer24)
c.3739dup (p.Glu1247GlyfsTer24)
c.3640dup (p.Glu1214GlyfsTer24)
c.2821dup (p.Glu941GlyfsTer24)
n.4372dup
13g.51935002A=CA2091550575ATP7Bc.*1802T= (n.*1802T=)
c.*2896T= (n.*2896T=)
c.3531T= (p.Tyr1177=)
c.4152T= (p.Tyr1384=)
c.3819T= (p.Tyr1273=)
c.3900T= (p.Tyr1300=)
n.1475T=
c.3918T= (p.Tyr1306=)
n.4291T=
n.1018T=
c.3087T= (p.Tyr1029=)
c.2862T= (p.Tyr954=)
c.3957T= (p.Tyr1319=)
c.1930T=
c.*1253T= (n.*1253T=)
n.4896T=
n.3497T=
c.4008T= (p.Tyr1336=)
c.4056T= (p.Tyr1352=)
c.4116T= (p.Tyr1372=)
c.3666T= (p.Tyr1222=)
c.1968T= (p.Tyr656=)
c.1785T= (p.Tyr595=)
c.4017T= (p.Tyr1339=)
c.3969T= (p.Tyr1323=)
c.3738T= (p.Tyr1246=)
c.3639T= (p.Tyr1213=)
c.2820T= (p.Tyr940=)
n.4371T=
13g.51935002A>CCA388019749ATP7Bc.*1802T>G (n.*1802T>G)
c.*2896T>G (n.*2896T>G)
c.3531T>G (p.Tyr1177Ter)
c.4152T>G (p.Tyr1384Ter)
c.3819T>G (p.Tyr1273Ter)
c.3900T>G (p.Tyr1300Ter)
n.1475T>G
c.3918T>G (p.Tyr1306Ter)
n.4291T>G
n.1018T>G
c.3087T>G (p.Tyr1029Ter)
c.2862T>G (p.Tyr954Ter)
c.3957T>G (p.Tyr1319Ter)
c.1930T>G
c.*1253T>G (n.*1253T>G)
n.4896T>G
n.3497T>G
c.4008T>G (p.Tyr1336Ter)
c.4056T>G (p.Tyr1352Ter)
c.4116T>G (p.Tyr1372Ter)
c.3666T>G (p.Tyr1222Ter)
c.1968T>G (p.Tyr656Ter)
c.1785T>G (p.Tyr595Ter)
c.4017T>G (p.Tyr1339Ter)
c.3969T>G (p.Tyr1323Ter)
c.3738T>G (p.Tyr1246Ter)
c.3639T>G (p.Tyr1213Ter)
c.2820T>G (p.Tyr940Ter)
n.4371T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51935002A>GCA484024222ATP7Bc.*1802T>C (n.*1802T>C)
c.*2896T>C (n.*2896T>C)
c.3531T>C (p.Tyr1177=)
c.4152T>C (p.Tyr1384=)
c.3819T>C (p.Tyr1273=)
c.3900T>C (p.Tyr1300=)
n.1475T>C
c.3918T>C (p.Tyr1306=)
n.4291T>C
n.1018T>C
c.3087T>C (p.Tyr1029=)
c.2862T>C (p.Tyr954=)
c.3957T>C (p.Tyr1319=)
c.1930T>C
c.*1253T>C (n.*1253T>C)
n.4896T>C
n.3497T>C
c.4008T>C (p.Tyr1336=)
c.4056T>C (p.Tyr1352=)
c.4116T>C (p.Tyr1372=)
c.3666T>C (p.Tyr1222=)
c.1968T>C (p.Tyr656=)
c.1785T>C (p.Tyr595=)
c.4017T>C (p.Tyr1339=)
c.3969T>C (p.Tyr1323=)
c.3738T>C (p.Tyr1246=)
c.3639T>C (p.Tyr1213=)
c.2820T>C (p.Tyr940=)
n.4371T>C
 dbSNP gnomAD v4
13g.51935002A>TCA388019751ATP7Bc.*1802T>A (n.*1802T>A)
c.*2896T>A (n.*2896T>A)
c.3531T>A (p.Tyr1177Ter)
c.4152T>A (p.Tyr1384Ter)
c.3819T>A (p.Tyr1273Ter)
c.3900T>A (p.Tyr1300Ter)
n.1475T>A
c.3918T>A (p.Tyr1306Ter)
n.4291T>A
n.1018T>A
c.3087T>A (p.Tyr1029Ter)
c.2862T>A (p.Tyr954Ter)
c.3957T>A (p.Tyr1319Ter)
c.1930T>A
c.*1253T>A (n.*1253T>A)
n.4896T>A
n.3497T>A
c.4008T>A (p.Tyr1336Ter)
c.4056T>A (p.Tyr1352Ter)
c.4116T>A (p.Tyr1372Ter)
c.3666T>A (p.Tyr1222Ter)
c.1968T>A (p.Tyr656Ter)
c.1785T>A (p.Tyr595Ter)
c.4017T>A (p.Tyr1339Ter)
c.3969T>A (p.Tyr1323Ter)
c.3738T>A (p.Tyr1246Ter)
c.3639T>A (p.Tyr1213Ter)
c.2820T>A (p.Tyr940Ter)
n.4371T>A
13g.51935002dupCA2580087667ATP7Bc.*1802dup (n.*1802dup)
c.*2896dup (n.*2896dup)
c.3531dup (p.Glu1178Ter)
c.4152dup (p.Glu1385Ter)
c.3819dup (p.Glu1274Ter)
c.3900dup (p.Glu1301Ter)
n.1475dup
c.3918dup (p.Glu1307Ter)
n.4291dup
n.1018dup
c.3087dup (p.Glu1030Ter)
c.2862dup (p.Glu955Ter)
c.3957dup (p.Glu1320Ter)
c.1930dup
c.*1253dup (n.*1253dup)
n.4896dup
n.3497dup
c.4008dup (p.Glu1337Ter)
c.4056dup (p.Glu1353Ter)
c.4116dup (p.Glu1373Ter)
c.3666dup (p.Glu1223Ter)
c.1968dup (p.Glu657Ter)
c.1785dup (p.Glu596Ter)
c.4017dup (p.Glu1340Ter)
c.3969dup (p.Glu1324Ter)
c.3738dup (p.Glu1247Ter)
c.3639dup (p.Glu1214Ter)
c.2820dup (p.Glu941Ter)
n.4371dup
 ClinVar
13g.51935003T>ACA388019753ATP7Bc.*1801A>T (n.*1801A>T)
c.*2895A>T (n.*2895A>T)
c.3530A>T (p.Tyr1177Phe)
c.4151A>T (p.Tyr1384Phe)
c.3818A>T (p.Tyr1273Phe)
c.3899A>T (p.Tyr1300Phe)
n.1474A>T
c.3917A>T (p.Tyr1306Phe)
n.4290A>T
n.1017A>T
c.3086A>T (p.Tyr1029Phe)
c.2861A>T (p.Tyr954Phe)
c.3956A>T (p.Tyr1319Phe)
c.1929A>T
c.*1252A>T (n.*1252A>T)
n.4895A>T
n.3496A>T
c.4007A>T (p.Tyr1336Phe)
c.4055A>T (p.Tyr1352Phe)
c.4115A>T (p.Tyr1372Phe)
c.3665A>T (p.Tyr1222Phe)
c.1967A>T (p.Tyr656Phe)
c.1784A>T (p.Tyr595Phe)
c.4016A>T (p.Tyr1339Phe)
c.3968A>T (p.Tyr1323Phe)
c.3737A>T (p.Tyr1246Phe)
c.3638A>T (p.Tyr1213Phe)
c.2819A>T (p.Tyr940Phe)
n.4370A>T
13g.51935003T>CCA250071748ATP7Bc.*1801A>G (n.*1801A>G)
c.*2895A>G (n.*2895A>G)
c.3530A>G (p.Tyr1177Cys)
c.4151A>G (p.Tyr1384Cys)
c.3818A>G (p.Tyr1273Cys)
c.3899A>G (p.Tyr1300Cys)
n.1474A>G
c.3917A>G (p.Tyr1306Cys)
n.4290A>G
n.1017A>G
c.3086A>G (p.Tyr1029Cys)
c.2861A>G (p.Tyr954Cys)
c.3956A>G (p.Tyr1319Cys)
c.1929A>G
c.*1252A>G (n.*1252A>G)
n.4895A>G
n.3496A>G
c.4007A>G (p.Tyr1336Cys)
c.4055A>G (p.Tyr1352Cys)
c.4115A>G (p.Tyr1372Cys)
c.3665A>G (p.Tyr1222Cys)
c.1967A>G (p.Tyr656Cys)
c.1784A>G (p.Tyr595Cys)
c.4016A>G (p.Tyr1339Cys)
c.3968A>G (p.Tyr1323Cys)
c.3737A>G (p.Tyr1246Cys)
c.3638A>G (p.Tyr1213Cys)
c.2819A>G (p.Tyr940Cys)
n.4370A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51935003T>GCA388019755ATP7Bc.*1801A>C (n.*1801A>C)
c.*2895A>C (n.*2895A>C)
c.3530A>C (p.Tyr1177Ser)
c.4151A>C (p.Tyr1384Ser)
c.3818A>C (p.Tyr1273Ser)
c.3899A>C (p.Tyr1300Ser)
n.1474A>C
c.3917A>C (p.Tyr1306Ser)
n.4290A>C
n.1017A>C
c.3086A>C (p.Tyr1029Ser)
c.2861A>C (p.Tyr954Ser)
c.3956A>C (p.Tyr1319Ser)
c.1929A>C
c.*1252A>C (n.*1252A>C)
n.4895A>C
n.3496A>C
c.4007A>C (p.Tyr1336Ser)
c.4055A>C (p.Tyr1352Ser)
c.4115A>C (p.Tyr1372Ser)
c.3665A>C (p.Tyr1222Ser)
c.1967A>C (p.Tyr656Ser)
c.1784A>C (p.Tyr595Ser)
c.4016A>C (p.Tyr1339Ser)
c.3968A>C (p.Tyr1323Ser)
c.3737A>C (p.Tyr1246Ser)
c.3638A>C (p.Tyr1213Ser)
c.2819A>C (p.Tyr940Ser)
n.4370A>C
13g.51935003T=CA2091550578ATP7Bc.*1801A= (n.*1801A=)
c.*2895A= (n.*2895A=)
c.3530A= (p.Tyr1177=)
c.4151A= (p.Tyr1384=)
c.3818A= (p.Tyr1273=)
c.3899A= (p.Tyr1300=)
n.1474A=
c.3917A= (p.Tyr1306=)
n.4290A=
n.1017A=
c.3086A= (p.Tyr1029=)
c.2861A= (p.Tyr954=)
c.3956A= (p.Tyr1319=)
c.1929A=
c.*1252A= (n.*1252A=)
n.4895A=
n.3496A=
c.4007A= (p.Tyr1336=)
c.4055A= (p.Tyr1352=)
c.4115A= (p.Tyr1372=)
c.3665A= (p.Tyr1222=)
c.1967A= (p.Tyr656=)
c.1784A= (p.Tyr595=)
c.4016A= (p.Tyr1339=)
c.3968A= (p.Tyr1323=)
c.3737A= (p.Tyr1246=)
c.3638A= (p.Tyr1213=)
c.2819A= (p.Tyr940=)
n.4370A=
13g.51935003dupCA912974789ATP7Bc.*1801dup (n.*1801dup)
c.*2895dup (n.*2895dup)
c.3530dup (p.Tyr1177Ter)
c.4151dup (p.Tyr1384Ter)
c.3818dup (p.Tyr1273Ter)
c.3899dup (p.Tyr1300Ter)
n.1474dup
c.3917dup (p.Tyr1306Ter)
n.4290dup
n.1017dup
c.3086dup (p.Tyr1029Ter)
c.2861dup (p.Tyr954Ter)
c.3956dup (p.Tyr1319Ter)
c.1929dup
c.*1252dup (n.*1252dup)
n.4895dup
n.3496dup
c.4007dup (p.Tyr1336Ter)
c.4055dup (p.Tyr1352Ter)
c.4115dup (p.Tyr1372Ter)
c.3665dup (p.Tyr1222Ter)
c.1967dup (p.Tyr656Ter)
c.1784dup (p.Tyr595Ter)
c.4016dup (p.Tyr1339Ter)
c.3968dup (p.Tyr1323Ter)
c.3737dup (p.Tyr1246Ter)
c.3638dup (p.Tyr1213Ter)
c.2819dup (p.Tyr940Ter)
n.4370dup
13g.51935004A>CCA388019758ATP7Bc.*1800T>G (n.*1800T>G)
c.*2894T>G (n.*2894T>G)
c.3529T>G (p.Tyr1177Asp)
c.4150T>G (p.Tyr1384Asp)
c.3817T>G (p.Tyr1273Asp)
c.3898T>G (p.Tyr1300Asp)
n.1473T>G
c.3916T>G (p.Tyr1306Asp)
n.4289T>G
n.1016T>G
c.3085T>G (p.Tyr1029Asp)
c.2860T>G (p.Tyr954Asp)
c.3955T>G (p.Tyr1319Asp)
c.1928T>G
c.*1251T>G (n.*1251T>G)
n.4894T>G
n.3495T>G
c.4006T>G (p.Tyr1336Asp)
c.4054T>G (p.Tyr1352Asp)
c.4114T>G (p.Tyr1372Asp)
c.3664T>G (p.Tyr1222Asp)
c.1966T>G (p.Tyr656Asp)
c.1783T>G (p.Tyr595Asp)
c.4015T>G (p.Tyr1339Asp)
c.3967T>G (p.Tyr1323Asp)
c.3736T>G (p.Tyr1246Asp)
c.3637T>G (p.Tyr1213Asp)
c.2818T>G (p.Tyr940Asp)
n.4369T>G
13g.51935004A>GCA388019760ATP7Bc.*1800T>C (n.*1800T>C)
c.*2894T>C (n.*2894T>C)
c.3529T>C (p.Tyr1177His)
c.4150T>C (p.Tyr1384His)
c.3817T>C (p.Tyr1273His)
c.3898T>C (p.Tyr1300His)
n.1473T>C
c.3916T>C (p.Tyr1306His)
n.4289T>C
n.1016T>C
c.3085T>C (p.Tyr1029His)
c.2860T>C (p.Tyr954His)
c.3955T>C (p.Tyr1319His)
c.1928T>C
c.*1251T>C (n.*1251T>C)
n.4894T>C
n.3495T>C
c.4006T>C (p.Tyr1336His)
c.4054T>C (p.Tyr1352His)
c.4114T>C (p.Tyr1372His)
c.3664T>C (p.Tyr1222His)
c.1966T>C (p.Tyr656His)
c.1783T>C (p.Tyr595His)
c.4015T>C (p.Tyr1339His)
c.3967T>C (p.Tyr1323His)
c.3736T>C (p.Tyr1246His)
c.3637T>C (p.Tyr1213His)
c.2818T>C (p.Tyr940His)
n.4369T>C
13g.51935004A>TCA388019761ATP7Bc.*1800T>A (n.*1800T>A)
c.*2894T>A (n.*2894T>A)
c.3529T>A (p.Tyr1177Asn)
c.4150T>A (p.Tyr1384Asn)
c.3817T>A (p.Tyr1273Asn)
c.3898T>A (p.Tyr1300Asn)
n.1473T>A
c.3916T>A (p.Tyr1306Asn)
n.4289T>A
n.1016T>A
c.3085T>A (p.Tyr1029Asn)
c.2860T>A (p.Tyr954Asn)
c.3955T>A (p.Tyr1319Asn)
c.1928T>A
c.*1251T>A (n.*1251T>A)
n.4894T>A
n.3495T>A
c.4006T>A (p.Tyr1336Asn)
c.4054T>A (p.Tyr1352Asn)
c.4114T>A (p.Tyr1372Asn)
c.3664T>A (p.Tyr1222Asn)
c.1966T>A (p.Tyr656Asn)
c.1783T>A (p.Tyr595Asn)
c.4015T>A (p.Tyr1339Asn)
c.3967T>A (p.Tyr1323Asn)
c.3736T>A (p.Tyr1246Asn)
c.3637T>A (p.Tyr1213Asn)
c.2818T>A (p.Tyr940Asn)
n.4369T>A
13g.51935004dupCA658823691ATP7Bc.*1800dup (n.*1800dup)
c.*2894dup (n.*2894dup)
c.3529dup (p.Tyr1177LeufsTer2)
c.4150dup (p.Tyr1384LeufsTer2)
c.3817dup (p.Tyr1273LeufsTer2)
c.3898dup (p.Tyr1300LeufsTer2)
n.1473dup
c.3916dup (p.Tyr1306LeufsTer2)
n.4289dup
n.1016dup
c.3085dup (p.Tyr1029LeufsTer2)
c.2860dup (p.Tyr954LeufsTer2)
c.3955dup (p.Tyr1319LeufsTer2)
c.1928dup
c.*1251dup (n.*1251dup)
n.4894dup
n.3495dup
c.4006dup (p.Tyr1336LeufsTer2)
c.4054dup (p.Tyr1352LeufsTer2)
c.4114dup (p.Tyr1372LeufsTer2)
c.3664dup (p.Tyr1222LeufsTer2)
c.1966dup (p.Tyr656LeufsTer2)
c.1783dup (p.Tyr595LeufsTer2)
c.4015dup (p.Tyr1339LeufsTer2)
c.3967dup (p.Tyr1323LeufsTer2)
c.3736dup (p.Tyr1246LeufsTer2)
c.3637dup (p.Tyr1213LeufsTer2)
c.2818dup (p.Tyr940LeufsTer2)
n.4369dup
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51935005C>ACA388019763ATP7Bc.*1799G>T (n.*1799G>T)
c.*2893G>T (n.*2893G>T)
c.3528G>T (p.Arg1176Ser)
c.4149G>T (p.Arg1383Ser)
c.3816G>T (p.Arg1272Ser)
c.3897G>T (p.Arg1299Ser)
n.1472G>T
c.3915G>T (p.Arg1305Ser)
n.4288G>T
n.1015G>T
c.3084G>T (p.Arg1028Ser)
c.2859G>T (p.Arg953Ser)
c.3954G>T (p.Arg1318Ser)
c.1927G>T
c.*1250G>T (n.*1250G>T)
n.4893G>T
n.3494G>T
c.4005G>T (p.Arg1335Ser)
c.4053G>T (p.Arg1351Ser)
c.4113G>T (p.Arg1371Ser)
c.3663G>T (p.Arg1221Ser)
c.1965G>T (p.Arg655Ser)
c.1782G>T (p.Arg594Ser)
c.4014G>T (p.Arg1338Ser)
c.3966G>T (p.Arg1322Ser)
c.3735G>T (p.Arg1245Ser)
c.3636G>T (p.Arg1212Ser)
c.2817G>T (p.Arg939Ser)
n.4368G>T
13g.51935005C=CA2091550585ATP7Bc.*1799G= (n.*1799G=)
c.*2893G= (n.*2893G=)
c.3528G= (p.Arg1176=)
c.4149G= (p.Arg1383=)
c.3816G= (p.Arg1272=)
c.3897G= (p.Arg1299=)
n.1472G=
c.3915G= (p.Arg1305=)
n.4288G=
n.1015G=
c.3084G= (p.Arg1028=)
c.2859G= (p.Arg953=)
c.3954G= (p.Arg1318=)
c.1927G=
c.*1250G= (n.*1250G=)
n.4893G=
n.3494G=
c.4005G= (p.Arg1335=)
c.4053G= (p.Arg1351=)
c.4113G= (p.Arg1371=)
c.3663G= (p.Arg1221=)
c.1965G= (p.Arg655=)
c.1782G= (p.Arg594=)
c.4014G= (p.Arg1338=)
c.3966G= (p.Arg1322=)
c.3735G= (p.Arg1245=)
c.3636G= (p.Arg1212=)
c.2817G= (p.Arg939=)
n.4368G=
13g.51935005C>GCA388019765ATP7Bc.*1799G>C (n.*1799G>C)
c.*2893G>C (n.*2893G>C)
c.3528G>C (p.Arg1176Ser)
c.4149G>C (p.Arg1383Ser)
c.3816G>C (p.Arg1272Ser)
c.3897G>C (p.Arg1299Ser)
n.1472G>C
c.3915G>C (p.Arg1305Ser)
n.4288G>C
n.1015G>C
c.3084G>C (p.Arg1028Ser)
c.2859G>C (p.Arg953Ser)
c.3954G>C (p.Arg1318Ser)
c.1927G>C
c.*1250G>C (n.*1250G>C)
n.4893G>C
n.3494G>C
c.4005G>C (p.Arg1335Ser)
c.4053G>C (p.Arg1351Ser)
c.4113G>C (p.Arg1371Ser)
c.3663G>C (p.Arg1221Ser)
c.1965G>C (p.Arg655Ser)
c.1782G>C (p.Arg594Ser)
c.4014G>C (p.Arg1338Ser)
c.3966G>C (p.Arg1322Ser)
c.3735G>C (p.Arg1245Ser)
c.3636G>C (p.Arg1212Ser)
c.2817G>C (p.Arg939Ser)
n.4368G>C
13g.51935005C>TCA484024223ATP7Bc.*1799G>A (n.*1799G>A)
c.*2893G>A (n.*2893G>A)
c.3528G>A (p.Arg1176=)
c.4149G>A (p.Arg1383=)
c.3816G>A (p.Arg1272=)
c.3897G>A (p.Arg1299=)
n.1472G>A
c.3915G>A (p.Arg1305=)
n.4288G>A
n.1015G>A
c.3084G>A (p.Arg1028=)
c.2859G>A (p.Arg953=)
c.3954G>A (p.Arg1318=)
c.1927G>A
c.*1250G>A (n.*1250G>A)
n.4893G>A
n.3494G>A
c.4005G>A (p.Arg1335=)
c.4053G>A (p.Arg1351=)
c.4113G>A (p.Arg1371=)
c.3663G>A (p.Arg1221=)
c.1965G>A (p.Arg655=)
c.1782G>A (p.Arg594=)
c.4014G>A (p.Arg1338=)
c.3966G>A (p.Arg1322=)
c.3735G>A (p.Arg1245=)
c.3636G>A (p.Arg1212=)
c.2817G>A (p.Arg939=)
n.4368G>A
 dbSNP
13g.51935006C>ACA388019767ATP7Bc.*1798G>T (n.*1798G>T)
c.*2892G>T (n.*2892G>T)
c.3527G>T (p.Arg1176Met)
c.4148G>T (p.Arg1383Met)
c.3815G>T (p.Arg1272Met)
c.3896G>T (p.Arg1299Met)
n.1471G>T
c.3914G>T (p.Arg1305Met)
n.4287G>T
n.1014G>T
c.3083G>T (p.Arg1028Met)
c.2858G>T (p.Arg953Met)
c.3953G>T (p.Arg1318Met)
c.1926G>T
c.*1249G>T (n.*1249G>T)
n.4892G>T
n.3493G>T
c.4004G>T (p.Arg1335Met)
c.4052G>T (p.Arg1351Met)
c.4112G>T (p.Arg1371Met)
c.3662G>T (p.Arg1221Met)
c.1964G>T (p.Arg655Met)
c.1781G>T (p.Arg594Met)
c.4013G>T (p.Arg1338Met)
c.3965G>T (p.Arg1322Met)
c.3734G>T (p.Arg1245Met)
c.3635G>T (p.Arg1212Met)
c.2816G>T (p.Arg939Met)
n.4367G>T
13g.51935006C=CA2091550587ATP7Bc.*1798G= (n.*1798G=)
c.*2892G= (n.*2892G=)
c.3527G= (p.Arg1176=)
c.4148G= (p.Arg1383=)
c.3815G= (p.Arg1272=)
c.3896G= (p.Arg1299=)
n.1471G=
c.3914G= (p.Arg1305=)
n.4287G=
n.1014G=
c.3083G= (p.Arg1028=)
c.2858G= (p.Arg953=)
c.3953G= (p.Arg1318=)
c.1926G=
c.*1249G= (n.*1249G=)
n.4892G=
n.3493G=
c.4004G= (p.Arg1335=)
c.4052G= (p.Arg1351=)
c.4112G= (p.Arg1371=)
c.3662G= (p.Arg1221=)
c.1964G= (p.Arg655=)
c.1781G= (p.Arg594=)
c.4013G= (p.Arg1338=)
c.3965G= (p.Arg1322=)
c.3734G= (p.Arg1245=)
c.3635G= (p.Arg1212=)
c.2816G= (p.Arg939=)
n.4367G=
13g.51935006C>GCA6988468ATP7Bc.*1798G>C (n.*1798G>C)
c.*2892G>C (n.*2892G>C)
c.3527G>C (p.Arg1176Thr)
c.4148G>C (p.Arg1383Thr)
c.3815G>C (p.Arg1272Thr)
c.3896G>C (p.Arg1299Thr)
n.1471G>C
c.3914G>C (p.Arg1305Thr)
n.4287G>C
n.1014G>C
c.3083G>C (p.Arg1028Thr)
c.2858G>C (p.Arg953Thr)
c.3953G>C (p.Arg1318Thr)
c.1926G>C
c.*1249G>C (n.*1249G>C)
n.4892G>C
n.3493G>C
c.4004G>C (p.Arg1335Thr)
c.4052G>C (p.Arg1351Thr)
c.4112G>C (p.Arg1371Thr)
c.3662G>C (p.Arg1221Thr)
c.1964G>C (p.Arg655Thr)
c.1781G>C (p.Arg594Thr)
c.4013G>C (p.Arg1338Thr)
c.3965G>C (p.Arg1322Thr)
c.3734G>C (p.Arg1245Thr)
c.3635G>C (p.Arg1212Thr)
c.2816G>C (p.Arg939Thr)
n.4367G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51935006C>TCA388019769ATP7Bc.*1798G>A (n.*1798G>A)
c.*2892G>A (n.*2892G>A)
c.3527G>A (p.Arg1176Lys)
c.4148G>A (p.Arg1383Lys)
c.3815G>A (p.Arg1272Lys)
c.3896G>A (p.Arg1299Lys)
n.1471G>A
c.3914G>A (p.Arg1305Lys)
n.4287G>A
n.1014G>A
c.3083G>A (p.Arg1028Lys)
c.2858G>A (p.Arg953Lys)
c.3953G>A (p.Arg1318Lys)
c.1926G>A
c.*1249G>A (n.*1249G>A)
n.4892G>A
n.3493G>A
c.4004G>A (p.Arg1335Lys)
c.4052G>A (p.Arg1351Lys)
c.4112G>A (p.Arg1371Lys)
c.3662G>A (p.Arg1221Lys)
c.1964G>A (p.Arg655Lys)
c.1781G>A (p.Arg594Lys)
c.4013G>A (p.Arg1338Lys)
c.3965G>A (p.Arg1322Lys)
c.3734G>A (p.Arg1245Lys)
c.3635G>A (p.Arg1212Lys)
c.2816G>A (p.Arg939Lys)
n.4367G>A
13g.51935007_51935010dupCA2697551865ATP7Bc.*1795_*1798dup (n.*1795_*1798dup)
c.*2889_*2892dup (n.*2889_*2892dup)
c.3524_3527dup (p.Tyr1177GlufsTer3)
c.4145_4148dup (p.Tyr1384GlufsTer3)
c.3812_3815dup (p.Tyr1273GlufsTer3)
c.3893_3896dup (p.Tyr1300GlufsTer3)
n.1468_1471dup
c.3911_3914dup (p.Tyr1306GlufsTer3)
n.4284_4287dup
n.1011_1014dup
c.3080_3083dup (p.Tyr1029GlufsTer3)
c.2855_2858dup (p.Tyr954GlufsTer3)
c.3950_3953dup (p.Tyr1319GlufsTer3)
c.1923_1926dup
c.*1246_*1249dup (n.*1246_*1249dup)
n.4889_4892dup
n.3490_3493dup
c.4001_4004dup (p.Tyr1336GlufsTer3)
c.4049_4052dup (p.Tyr1352GlufsTer3)
c.4109_4112dup (p.Tyr1372GlufsTer3)
c.3659_3662dup (p.Tyr1222GlufsTer3)
c.1961_1964dup (p.Tyr656GlufsTer3)
c.1778_1781dup (p.Tyr595GlufsTer3)
c.4010_4013dup (p.Tyr1339GlufsTer3)
c.3962_3965dup (p.Tyr1323GlufsTer3)
c.3731_3734dup (p.Tyr1246GlufsTer3)
c.3632_3635dup (p.Tyr1213GlufsTer3)
c.2813_2816dup (p.Tyr940GlufsTer3)
n.4364_4367dup
 ClinVar
13g.51935007T>ACA388019771ATP7Bc.*1797A>T (n.*1797A>T)
c.*2891A>T (n.*2891A>T)
c.3526A>T (p.Arg1176Trp)
c.4147A>T (p.Arg1383Trp)
c.3814A>T (p.Arg1272Trp)
c.3895A>T (p.Arg1299Trp)
n.1470A>T
c.3913A>T (p.Arg1305Trp)
n.4286A>T
n.1013A>T
c.3082A>T (p.Arg1028Trp)
c.2857A>T (p.Arg953Trp)
c.3952A>T (p.Arg1318Trp)
c.1925A>T
c.*1248A>T (n.*1248A>T)
n.4891A>T
n.3492A>T
c.4003A>T (p.Arg1335Trp)
c.4051A>T (p.Arg1351Trp)
c.4111A>T (p.Arg1371Trp)
c.3661A>T (p.Arg1221Trp)
c.1963A>T (p.Arg655Trp)
c.1780A>T (p.Arg594Trp)
c.4012A>T (p.Arg1338Trp)
c.3964A>T (p.Arg1322Trp)
c.3733A>T (p.Arg1245Trp)
c.3634A>T (p.Arg1212Trp)
c.2815A>T (p.Arg939Trp)
n.4366A>T
13g.51935007T>CCA388019773ATP7Bc.*1797A>G (n.*1797A>G)
c.*2891A>G (n.*2891A>G)
c.3526A>G (p.Arg1176Gly)
c.4147A>G (p.Arg1383Gly)
c.3814A>G (p.Arg1272Gly)
c.3895A>G (p.Arg1299Gly)
n.1470A>G
c.3913A>G (p.Arg1305Gly)
n.4286A>G
n.1013A>G
c.3082A>G (p.Arg1028Gly)
c.2857A>G (p.Arg953Gly)
c.3952A>G (p.Arg1318Gly)
c.1925A>G
c.*1248A>G (n.*1248A>G)
n.4891A>G
n.3492A>G
c.4003A>G (p.Arg1335Gly)
c.4051A>G (p.Arg1351Gly)
c.4111A>G (p.Arg1371Gly)
c.3661A>G (p.Arg1221Gly)
c.1963A>G (p.Arg655Gly)
c.1780A>G (p.Arg594Gly)
c.4012A>G (p.Arg1338Gly)
c.3964A>G (p.Arg1322Gly)
c.3733A>G (p.Arg1245Gly)
c.3634A>G (p.Arg1212Gly)
c.2815A>G (p.Arg939Gly)
n.4366A>G
13g.51935007T>GCA484024224ATP7Bc.*1797A>C (n.*1797A>C)
c.*2891A>C (n.*2891A>C)
c.3526A>C (p.Arg1176=)
c.4147A>C (p.Arg1383=)
c.3814A>C (p.Arg1272=)
c.3895A>C (p.Arg1299=)
n.1470A>C
c.3913A>C (p.Arg1305=)
n.4286A>C
n.1013A>C
c.3082A>C (p.Arg1028=)
c.2857A>C (p.Arg953=)
c.3952A>C (p.Arg1318=)
c.1925A>C
c.*1248A>C (n.*1248A>C)
n.4891A>C
n.3492A>C
c.4003A>C (p.Arg1335=)
c.4051A>C (p.Arg1351=)
c.4111A>C (p.Arg1371=)
c.3661A>C (p.Arg1221=)
c.1963A>C (p.Arg655=)
c.1780A>C (p.Arg594=)
c.4012A>C (p.Arg1338=)
c.3964A>C (p.Arg1322=)
c.3733A>C (p.Arg1245=)
c.3634A>C (p.Arg1212=)
c.2815A>C (p.Arg939=)
n.4366A>C
13g.51935008C>ACA388019776ATP7Bc.*1796G>T (n.*1796G>T)
c.*2890G>T (n.*2890G>T)
c.3525G>T (p.Glu1175Asp)
c.4146G>T (p.Glu1382Asp)
c.3813G>T (p.Glu1271Asp)
c.3894G>T (p.Glu1298Asp)
n.1469G>T
c.3912G>T (p.Glu1304Asp)
n.4285G>T
n.1012G>T
c.3081G>T (p.Glu1027Asp)
c.2856G>T (p.Glu952Asp)
c.3951G>T (p.Glu1317Asp)
c.1924G>T
c.*1247G>T (n.*1247G>T)
n.4890G>T
n.3491G>T
c.4002G>T (p.Glu1334Asp)
c.4050G>T (p.Glu1350Asp)
c.4110G>T (p.Glu1370Asp)
c.3660G>T (p.Glu1220Asp)
c.1962G>T (p.Glu654Asp)
c.1779G>T (p.Glu593Asp)
c.4011G>T (p.Glu1337Asp)
c.3963G>T (p.Glu1321Asp)
c.3732G>T (p.Glu1244Asp)
c.3633G>T (p.Glu1211Asp)
c.2814G>T (p.Glu938Asp)
n.4365G>T
13g.51935008C>GCA388019777ATP7Bc.*1796G>C (n.*1796G>C)
c.*2890G>C (n.*2890G>C)
c.3525G>C (p.Glu1175Asp)
c.4146G>C (p.Glu1382Asp)
c.3813G>C (p.Glu1271Asp)
c.3894G>C (p.Glu1298Asp)
n.1469G>C
c.3912G>C (p.Glu1304Asp)
n.4285G>C
n.1012G>C
c.3081G>C (p.Glu1027Asp)
c.2856G>C (p.Glu952Asp)
c.3951G>C (p.Glu1317Asp)
c.1924G>C
c.*1247G>C (n.*1247G>C)
n.4890G>C
n.3491G>C
c.4002G>C (p.Glu1334Asp)
c.4050G>C (p.Glu1350Asp)
c.4110G>C (p.Glu1370Asp)
c.3660G>C (p.Glu1220Asp)
c.1962G>C (p.Glu654Asp)
c.1779G>C (p.Glu593Asp)
c.4011G>C (p.Glu1337Asp)
c.3963G>C (p.Glu1321Asp)
c.3732G>C (p.Glu1244Asp)
c.3633G>C (p.Glu1211Asp)
c.2814G>C (p.Glu938Asp)
n.4365G>C
13g.51935008C>TCA484024225ATP7Bc.*1796G>A (n.*1796G>A)
c.*2890G>A (n.*2890G>A)
c.3525G>A (p.Glu1175=)
c.4146G>A (p.Glu1382=)
c.3813G>A (p.Glu1271=)
c.3894G>A (p.Glu1298=)
n.1469G>A
c.3912G>A (p.Glu1304=)
n.4285G>A
n.1012G>A
c.3081G>A (p.Glu1027=)
c.2856G>A (p.Glu952=)
c.3951G>A (p.Glu1317=)
c.1924G>A
c.*1247G>A (n.*1247G>A)
n.4890G>A
n.3491G>A
c.4002G>A (p.Glu1334=)
c.4050G>A (p.Glu1350=)
c.4110G>A (p.Glu1370=)
c.3660G>A (p.Glu1220=)
c.1962G>A (p.Glu654=)
c.1779G>A (p.Glu593=)
c.4011G>A (p.Glu1337=)
c.3963G>A (p.Glu1321=)
c.3732G>A (p.Glu1244=)
c.3633G>A (p.Glu1211=)
c.2814G>A (p.Glu938=)
n.4365G>A
13g.51935009T>ACA388019779ATP7Bc.*1795A>T (n.*1795A>T)
c.*2889A>T (n.*2889A>T)
c.3524A>T (p.Glu1175Val)
c.4145A>T (p.Glu1382Val)
c.3812A>T (p.Glu1271Val)
c.3893A>T (p.Glu1298Val)
n.1468A>T
c.3911A>T (p.Glu1304Val)
n.4284A>T
n.1011A>T
c.3080A>T (p.Glu1027Val)
c.2855A>T (p.Glu952Val)
c.3950A>T (p.Glu1317Val)
c.1923A>T
c.*1246A>T (n.*1246A>T)
n.4889A>T
n.3490A>T
c.4001A>T (p.Glu1334Val)
c.4049A>T (p.Glu1350Val)
c.4109A>T (p.Glu1370Val)
c.3659A>T (p.Glu1220Val)
c.1961A>T (p.Glu654Val)
c.1778A>T (p.Glu593Val)
c.4010A>T (p.Glu1337Val)
c.3962A>T (p.Glu1321Val)
c.3731A>T (p.Glu1244Val)
c.3632A>T (p.Glu1211Val)
c.2813A>T (p.Glu938Val)
n.4364A>T
13g.51935009T>CCA388019783ATP7Bc.*1795A>G (n.*1795A>G)
c.*2889A>G (n.*2889A>G)
c.3524A>G (p.Glu1175Gly)
c.4145A>G (p.Glu1382Gly)
c.3812A>G (p.Glu1271Gly)
c.3893A>G (p.Glu1298Gly)
n.1468A>G
c.3911A>G (p.Glu1304Gly)
n.4284A>G
n.1011A>G
c.3080A>G (p.Glu1027Gly)
c.2855A>G (p.Glu952Gly)
c.3950A>G (p.Glu1317Gly)
c.1923A>G
c.*1246A>G (n.*1246A>G)
n.4889A>G
n.3490A>G
c.4001A>G (p.Glu1334Gly)
c.4049A>G (p.Glu1350Gly)
c.4109A>G (p.Glu1370Gly)
c.3659A>G (p.Glu1220Gly)
c.1961A>G (p.Glu654Gly)
c.1778A>G (p.Glu593Gly)
c.4010A>G (p.Glu1337Gly)
c.3962A>G (p.Glu1321Gly)
c.3731A>G (p.Glu1244Gly)
c.3632A>G (p.Glu1211Gly)
c.2813A>G (p.Glu938Gly)
n.4364A>G
 COSMIC
13g.51935009T>GCA388019781ATP7Bc.*1795A>C (n.*1795A>C)
c.*2889A>C (n.*2889A>C)
c.3524A>C (p.Glu1175Ala)
c.4145A>C (p.Glu1382Ala)
c.3812A>C (p.Glu1271Ala)
c.3893A>C (p.Glu1298Ala)
n.1468A>C
c.3911A>C (p.Glu1304Ala)
n.4284A>C
n.1011A>C
c.3080A>C (p.Glu1027Ala)
c.2855A>C (p.Glu952Ala)
c.3950A>C (p.Glu1317Ala)
c.1923A>C
c.*1246A>C (n.*1246A>C)
n.4889A>C
n.3490A>C
c.4001A>C (p.Glu1334Ala)
c.4049A>C (p.Glu1350Ala)
c.4109A>C (p.Glu1370Ala)
c.3659A>C (p.Glu1220Ala)
c.1961A>C (p.Glu654Ala)
c.1778A>C (p.Glu593Ala)
c.4010A>C (p.Glu1337Ala)
c.3962A>C (p.Glu1321Ala)
c.3731A>C (p.Glu1244Ala)
c.3632A>C (p.Glu1211Ala)
c.2813A>C (p.Glu938Ala)
n.4364A>C
13g.51935010C>ACA388019785ATP7Bc.*1794G>T (n.*1794G>T)
c.*2888G>T (n.*2888G>T)
c.3523G>T (p.Glu1175Ter)
c.4144G>T (p.Glu1382Ter)
c.3811G>T (p.Glu1271Ter)
c.3892G>T (p.Glu1298Ter)
n.1467G>T
c.3910G>T (p.Glu1304Ter)
n.4283G>T
n.1010G>T
c.3079G>T (p.Glu1027Ter)
c.2854G>T (p.Glu952Ter)
c.3949G>T (p.Glu1317Ter)
c.1922G>T
c.*1245G>T (n.*1245G>T)
n.4888G>T
n.3489G>T
c.4000G>T (p.Glu1334Ter)
c.4048G>T (p.Glu1350Ter)
c.4108G>T (p.Glu1370Ter)
c.3658G>T (p.Glu1220Ter)
c.1960G>T (p.Glu654Ter)
c.1777G>T (p.Glu593Ter)
c.4009G>T (p.Glu1337Ter)
c.3961G>T (p.Glu1321Ter)
c.3730G>T (p.Glu1244Ter)
c.3631G>T (p.Glu1211Ter)
c.2812G>T (p.Glu938Ter)
n.4363G>T
 ClinVar dbSNP
13g.51935010C>GCA388019787ATP7Bc.*1794G>C (n.*1794G>C)
c.*2888G>C (n.*2888G>C)
c.3523G>C (p.Glu1175Gln)
c.4144G>C (p.Glu1382Gln)
c.3811G>C (p.Glu1271Gln)
c.3892G>C (p.Glu1298Gln)
n.1467G>C
c.3910G>C (p.Glu1304Gln)
n.4283G>C
n.1010G>C
c.3079G>C (p.Glu1027Gln)
c.2854G>C (p.Glu952Gln)
c.3949G>C (p.Glu1317Gln)
c.1922G>C
c.*1245G>C (n.*1245G>C)
n.4888G>C
n.3489G>C
c.4000G>C (p.Glu1334Gln)
c.4048G>C (p.Glu1350Gln)
c.4108G>C (p.Glu1370Gln)
c.3658G>C (p.Glu1220Gln)
c.1960G>C (p.Glu654Gln)
c.1777G>C (p.Glu593Gln)
c.4009G>C (p.Glu1337Gln)
c.3961G>C (p.Glu1321Gln)
c.3730G>C (p.Glu1244Gln)
c.3631G>C (p.Glu1211Gln)
c.2812G>C (p.Glu938Gln)
n.4363G>C
13g.51935010C>TCA388019789ATP7Bc.*1794G>A (n.*1794G>A)
c.*2888G>A (n.*2888G>A)
c.3523G>A (p.Glu1175Lys)
c.4144G>A (p.Glu1382Lys)
c.3811G>A (p.Glu1271Lys)
c.3892G>A (p.Glu1298Lys)
n.1467G>A
c.3910G>A (p.Glu1304Lys)
n.4283G>A
n.1010G>A
c.3079G>A (p.Glu1027Lys)
c.2854G>A (p.Glu952Lys)
c.3949G>A (p.Glu1317Lys)
c.1922G>A
c.*1245G>A (n.*1245G>A)
n.4888G>A
n.3489G>A
c.4000G>A (p.Glu1334Lys)
c.4048G>A (p.Glu1350Lys)
c.4108G>A (p.Glu1370Lys)
c.3658G>A (p.Glu1220Lys)
c.1960G>A (p.Glu654Lys)
c.1777G>A (p.Glu593Lys)
c.4009G>A (p.Glu1337Lys)
c.3961G>A (p.Glu1321Lys)
c.3730G>A (p.Glu1244Lys)
c.3631G>A (p.Glu1211Lys)
c.2812G>A (p.Glu938Lys)
n.4363G>A
13g.51935011C>ACA484024226ATP7Bc.*1793G>T (n.*1793G>T)
c.*2887G>T (n.*2887G>T)
c.3522G>T (p.Leu1174=)
c.4143G>T (p.Leu1381=)
c.3810G>T (p.Leu1270=)
c.3891G>T (p.Leu1297=)
n.1466G>T
c.3909G>T (p.Leu1303=)
n.4282G>T
n.1009G>T
c.3078G>T (p.Leu1026=)
c.2853G>T (p.Leu951=)
c.3948G>T (p.Leu1316=)
c.1921G>T
c.*1244G>T (n.*1244G>T)
n.4887G>T
n.3488G>T
c.3999G>T (p.Leu1333=)
c.4047G>T (p.Leu1349=)
c.4107G>T (p.Leu1369=)
c.3657G>T (p.Leu1219=)
c.1959G>T (p.Leu653=)
c.1776G>T (p.Leu592=)
c.4008G>T (p.Leu1336=)
c.3960G>T (p.Leu1320=)
c.3729G>T (p.Leu1243=)
c.3630G>T (p.Leu1210=)
c.2811G>T (p.Leu937=)
n.4362G>T
13g.51935011C=CA2091550589ATP7Bc.*1793G= (n.*1793G=)
c.*2887G= (n.*2887G=)
c.3522G= (p.Leu1174=)
c.4143G= (p.Leu1381=)
c.3810G= (p.Leu1270=)
c.3891G= (p.Leu1297=)
n.1466G=
c.3909G= (p.Leu1303=)
n.4282G=
n.1009G=
c.3078G= (p.Leu1026=)
c.2853G= (p.Leu951=)
c.3948G= (p.Leu1316=)
c.1921G=
c.*1244G= (n.*1244G=)
n.4887G=
n.3488G=
c.3999G= (p.Leu1333=)
c.4047G= (p.Leu1349=)
c.4107G= (p.Leu1369=)
c.3657G= (p.Leu1219=)
c.1959G= (p.Leu653=)
c.1776G= (p.Leu592=)
c.4008G= (p.Leu1336=)
c.3960G= (p.Leu1320=)
c.3729G= (p.Leu1243=)
c.3630G= (p.Leu1210=)
c.2811G= (p.Leu937=)
n.4362G=
13g.51935011C>GCA484024227ATP7Bc.*1793G>C (n.*1793G>C)
c.*2887G>C (n.*2887G>C)
c.3522G>C (p.Leu1174=)
c.4143G>C (p.Leu1381=)
c.3810G>C (p.Leu1270=)
c.3891G>C (p.Leu1297=)
n.1466G>C
c.3909G>C (p.Leu1303=)
n.4282G>C
n.1009G>C
c.3078G>C (p.Leu1026=)
c.2853G>C (p.Leu951=)
c.3948G>C (p.Leu1316=)
c.1921G>C
c.*1244G>C (n.*1244G>C)
n.4887G>C
n.3488G>C
c.3999G>C (p.Leu1333=)
c.4047G>C (p.Leu1349=)
c.4107G>C (p.Leu1369=)
c.3657G>C (p.Leu1219=)
c.1959G>C (p.Leu653=)
c.1776G>C (p.Leu592=)
c.4008G>C (p.Leu1336=)
c.3960G>C (p.Leu1320=)
c.3729G>C (p.Leu1243=)
c.3630G>C (p.Leu1210=)
c.2811G>C (p.Leu937=)
n.4362G>C
 ClinVar dbSNP
13g.51935011C>TCA6988469ATP7Bc.*1793G>A (n.*1793G>A)
c.*2887G>A (n.*2887G>A)
c.3522G>A (p.Leu1174=)
c.4143G>A (p.Leu1381=)
c.3810G>A (p.Leu1270=)
c.3891G>A (p.Leu1297=)
n.1466G>A
c.3909G>A (p.Leu1303=)
n.4282G>A
n.1009G>A
c.3078G>A (p.Leu1026=)
c.2853G>A (p.Leu951=)
c.3948G>A (p.Leu1316=)
c.1921G>A
c.*1244G>A (n.*1244G>A)
n.4887G>A
n.3488G>A
c.3999G>A (p.Leu1333=)
c.4047G>A (p.Leu1349=)
c.4107G>A (p.Leu1369=)
c.3657G>A (p.Leu1219=)
c.1959G>A (p.Leu653=)
c.1776G>A (p.Leu592=)
c.4008G>A (p.Leu1336=)
c.3960G>A (p.Leu1320=)
c.3729G>A (p.Leu1243=)
c.3630G>A (p.Leu1210=)
c.2811G>A (p.Leu937=)
n.4362G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51935015_51935019delCA2580618254ATP7Bc.*1789_*1793del (n.*1789_*1793del)
c.*2883_*2887del (n.*2883_*2887del)
c.3518_3522del (p.Asp1173GlyfsTer4)
c.4139_4143del (p.Asp1380GlyfsTer4)
c.3806_3810del (p.Asp1269GlyfsTer4)
c.3887_3891del (p.Asp1296GlyfsTer4)
n.1462_1466del
c.3905_3909del (p.Asp1302GlyfsTer4)
n.4278_4282del
n.1005_1009del
c.3074_3078del (p.Asp1025GlyfsTer4)
c.2849_2853del (p.Asp950GlyfsTer4)
c.3944_3948del (p.Asp1315GlyfsTer4)
c.1917_1921del
c.*1240_*1244del (n.*1240_*1244del)
n.4883_4887del
n.3484_3488del
c.3995_3999del (p.Asp1332GlyfsTer4)
c.4043_4047del (p.Asp1348GlyfsTer4)
c.4103_4107del (p.Asp1368GlyfsTer4)
c.3653_3657del (p.Asp1218GlyfsTer4)
c.1955_1959del (p.Asp652GlyfsTer4)
c.1772_1776del (p.Asp591GlyfsTer4)
c.4004_4008del (p.Asp1335GlyfsTer4)
c.3956_3960del (p.Asp1319GlyfsTer4)
c.3725_3729del (p.Asp1242GlyfsTer4)
c.3626_3630del (p.Asp1209GlyfsTer4)
c.2807_2811del (p.Asp936GlyfsTer4)
n.4358_4362del
13g.51935012A>CCA388019792ATP7Bc.*1792T>G (n.*1792T>G)
c.*2886T>G (n.*2886T>G)
c.3521T>G (p.Leu1174Arg)
c.4142T>G (p.Leu1381Arg)
c.3809T>G (p.Leu1270Arg)
c.3890T>G (p.Leu1297Arg)
n.1465T>G
c.3908T>G (p.Leu1303Arg)
n.4281T>G
n.1008T>G
c.3077T>G (p.Leu1026Arg)
c.2852T>G (p.Leu951Arg)
c.3947T>G (p.Leu1316Arg)
c.1920T>G
c.*1243T>G (n.*1243T>G)
n.4886T>G
n.3487T>G
c.3998T>G (p.Leu1333Arg)
c.4046T>G (p.Leu1349Arg)
c.4106T>G (p.Leu1369Arg)
c.3656T>G (p.Leu1219Arg)
c.1958T>G (p.Leu653Arg)
c.1775T>G (p.Leu592Arg)
c.4007T>G (p.Leu1336Arg)
c.3959T>G (p.Leu1320Arg)
c.3728T>G (p.Leu1243Arg)
c.3629T>G (p.Leu1210Arg)
c.2810T>G (p.Leu937Arg)
n.4361T>G
13g.51935012A>GCA388019794ATP7Bc.*1792T>C (n.*1792T>C)
c.*2886T>C (n.*2886T>C)
c.3521T>C (p.Leu1174Pro)
c.4142T>C (p.Leu1381Pro)
c.3809T>C (p.Leu1270Pro)
c.3890T>C (p.Leu1297Pro)
n.1465T>C
c.3908T>C (p.Leu1303Pro)
n.4281T>C
n.1008T>C
c.3077T>C (p.Leu1026Pro)
c.2852T>C (p.Leu951Pro)
c.3947T>C (p.Leu1316Pro)
c.1920T>C
c.*1243T>C (n.*1243T>C)
n.4886T>C
n.3487T>C
c.3998T>C (p.Leu1333Pro)
c.4046T>C (p.Leu1349Pro)
c.4106T>C (p.Leu1369Pro)
c.3656T>C (p.Leu1219Pro)
c.1958T>C (p.Leu653Pro)
c.1775T>C (p.Leu592Pro)
c.4007T>C (p.Leu1336Pro)
c.3959T>C (p.Leu1320Pro)
c.3728T>C (p.Leu1243Pro)
c.3629T>C (p.Leu1210Pro)
c.2810T>C (p.Leu937Pro)
n.4361T>C
 gnomAD v4
13g.51935012A>TCA388019796ATP7Bc.*1792T>A (n.*1792T>A)
c.*2886T>A (n.*2886T>A)
c.3521T>A (p.Leu1174Gln)
c.4142T>A (p.Leu1381Gln)
c.3809T>A (p.Leu1270Gln)
c.3890T>A (p.Leu1297Gln)
n.1465T>A
c.3908T>A (p.Leu1303Gln)
n.4281T>A
n.1008T>A
c.3077T>A (p.Leu1026Gln)
c.2852T>A (p.Leu951Gln)
c.3947T>A (p.Leu1316Gln)
c.1920T>A
c.*1243T>A (n.*1243T>A)
n.4886T>A
n.3487T>A
c.3998T>A (p.Leu1333Gln)
c.4046T>A (p.Leu1349Gln)
c.4106T>A (p.Leu1369Gln)
c.3656T>A (p.Leu1219Gln)
c.1958T>A (p.Leu653Gln)
c.1775T>A (p.Leu592Gln)
c.4007T>A (p.Leu1336Gln)
c.3959T>A (p.Leu1320Gln)
c.3728T>A (p.Leu1243Gln)
c.3629T>A (p.Leu1210Gln)
c.2810T>A (p.Leu937Gln)
n.4361T>A
13g.51935013G>ACA484024228ATP7Bc.*1791C>T (n.*1791C>T)
c.*2885C>T (n.*2885C>T)
c.3520C>T (p.Leu1174=)
c.4141C>T (p.Leu1381=)
c.3808C>T (p.Leu1270=)
c.3889C>T (p.Leu1297=)
n.1464C>T
c.3907C>T (p.Leu1303=)
n.4280C>T
n.1007C>T
c.3076C>T (p.Leu1026=)
c.2851C>T (p.Leu951=)
c.3946C>T (p.Leu1316=)
c.1919C>T
c.*1242C>T (n.*1242C>T)
n.4885C>T
n.3486C>T
c.3997C>T (p.Leu1333=)
c.4045C>T (p.Leu1349=)
c.4105C>T (p.Leu1369=)
c.3655C>T (p.Leu1219=)
c.1957C>T (p.Leu653=)
c.1774C>T (p.Leu592=)
c.4006C>T (p.Leu1336=)
c.3958C>T (p.Leu1320=)
c.3727C>T (p.Leu1243=)
c.3628C>T (p.Leu1210=)
c.2809C>T (p.Leu937=)
n.4360C>T
 ClinVar dbSNP gnomAD v4
13g.51935013G>CCA388019798ATP7Bc.*1791C>G (n.*1791C>G)
c.*2885C>G (n.*2885C>G)
c.3520C>G (p.Leu1174Val)
c.4141C>G (p.Leu1381Val)
c.3808C>G (p.Leu1270Val)
c.3889C>G (p.Leu1297Val)
n.1464C>G
c.3907C>G (p.Leu1303Val)
n.4280C>G
n.1007C>G
c.3076C>G (p.Leu1026Val)
c.2851C>G (p.Leu951Val)
c.3946C>G (p.Leu1316Val)
c.1919C>G
c.*1242C>G (n.*1242C>G)
n.4885C>G
n.3486C>G
c.3997C>G (p.Leu1333Val)
c.4045C>G (p.Leu1349Val)
c.4105C>G (p.Leu1369Val)
c.3655C>G (p.Leu1219Val)
c.1957C>G (p.Leu653Val)
c.1774C>G (p.Leu592Val)
c.4006C>G (p.Leu1336Val)
c.3958C>G (p.Leu1320Val)
c.3727C>G (p.Leu1243Val)
c.3628C>G (p.Leu1210Val)
c.2809C>G (p.Leu937Val)
n.4360C>G
 ClinVar dbSNP gnomAD v4
13g.51935013G=CA2091550591ATP7Bc.*1791C= (n.*1791C=)
c.*2885C= (n.*2885C=)
c.3520C= (p.Leu1174=)
c.4141C= (p.Leu1381=)
c.3808C= (p.Leu1270=)
c.3889C= (p.Leu1297=)
n.1464C=
c.3907C= (p.Leu1303=)
n.4280C=
n.1007C=
c.3076C= (p.Leu1026=)
c.2851C= (p.Leu951=)
c.3946C= (p.Leu1316=)
c.1919C=
c.*1242C= (n.*1242C=)
n.4885C=
n.3486C=
c.3997C= (p.Leu1333=)
c.4045C= (p.Leu1349=)
c.4105C= (p.Leu1369=)
c.3655C= (p.Leu1219=)
c.1957C= (p.Leu653=)
c.1774C= (p.Leu592=)
c.4006C= (p.Leu1336=)
c.3958C= (p.Leu1320=)
c.3727C= (p.Leu1243=)
c.3628C= (p.Leu1210=)
c.2809C= (p.Leu937=)
n.4360C=
13g.51935013G>TCA388019800ATP7Bc.*1791C>A (n.*1791C>A)
c.*2885C>A (n.*2885C>A)
c.3520C>A (p.Leu1174Met)
c.4141C>A (p.Leu1381Met)
c.3808C>A (p.Leu1270Met)
c.3889C>A (p.Leu1297Met)
n.1464C>A
c.3907C>A (p.Leu1303Met)
n.4280C>A
n.1007C>A
c.3076C>A (p.Leu1026Met)
c.2851C>A (p.Leu951Met)
c.3946C>A (p.Leu1316Met)
c.1919C>A
c.*1242C>A (n.*1242C>A)
n.4885C>A
n.3486C>A
c.3997C>A (p.Leu1333Met)
c.4045C>A (p.Leu1349Met)
c.4105C>A (p.Leu1369Met)
c.3655C>A (p.Leu1219Met)
c.1957C>A (p.Leu653Met)
c.1774C>A (p.Leu592Met)
c.4006C>A (p.Leu1336Met)
c.3958C>A (p.Leu1320Met)
c.3727C>A (p.Leu1243Met)
c.3628C>A (p.Leu1210Met)
c.2809C>A (p.Leu937Met)
n.4360C>A
13g.51935014G>ACA484024229ATP7Bc.*1790C>T (n.*1790C>T)
c.*2884C>T (n.*2884C>T)
c.3519C>T (p.Asp1173=)
c.4140C>T (p.Asp1380=)
c.3807C>T (p.Asp1269=)
c.3888C>T (p.Asp1296=)
n.1463C>T
c.3906C>T (p.Asp1302=)
n.4279C>T
n.1006C>T
c.3075C>T (p.Asp1025=)
c.2850C>T (p.Asp950=)
c.3945C>T (p.Asp1315=)
c.1918C>T
c.*1241C>T (n.*1241C>T)
n.4884C>T
n.3485C>T
c.3996C>T (p.Asp1332=)
c.4044C>T (p.Asp1348=)
c.4104C>T (p.Asp1368=)
c.3654C>T (p.Asp1218=)
c.1956C>T (p.Asp652=)
c.1773C>T (p.Asp591=)
c.4005C>T (p.Asp1335=)
c.3957C>T (p.Asp1319=)
c.3726C>T (p.Asp1242=)
c.3627C>T (p.Asp1209=)
c.2808C>T (p.Asp936=)
n.4359C>T
 ClinVar gnomAD v4
13g.51935014G>CCA388019801ATP7Bc.*1790C>G (n.*1790C>G)
c.*2884C>G (n.*2884C>G)
c.3519C>G (p.Asp1173Glu)
c.4140C>G (p.Asp1380Glu)
c.3807C>G (p.Asp1269Glu)
c.3888C>G (p.Asp1296Glu)
n.1463C>G
c.3906C>G (p.Asp1302Glu)
n.4279C>G
n.1006C>G
c.3075C>G (p.Asp1025Glu)
c.2850C>G (p.Asp950Glu)
c.3945C>G (p.Asp1315Glu)
c.1918C>G
c.*1241C>G (n.*1241C>G)
n.4884C>G
n.3485C>G
c.3996C>G (p.Asp1332Glu)
c.4044C>G (p.Asp1348Glu)
c.4104C>G (p.Asp1368Glu)
c.3654C>G (p.Asp1218Glu)
c.1956C>G (p.Asp652Glu)
c.1773C>G (p.Asp591Glu)
c.4005C>G (p.Asp1335Glu)
c.3957C>G (p.Asp1319Glu)
c.3726C>G (p.Asp1242Glu)
c.3627C>G (p.Asp1209Glu)
c.2808C>G (p.Asp936Glu)
n.4359C>G
13g.51935014G>TCA388019803ATP7Bc.*1790C>A (n.*1790C>A)
c.*2884C>A (n.*2884C>A)
c.3519C>A (p.Asp1173Glu)
c.4140C>A (p.Asp1380Glu)
c.3807C>A (p.Asp1269Glu)
c.3888C>A (p.Asp1296Glu)
n.1463C>A
c.3906C>A (p.Asp1302Glu)
n.4279C>A
n.1006C>A
c.3075C>A (p.Asp1025Glu)
c.2850C>A (p.Asp950Glu)
c.3945C>A (p.Asp1315Glu)
c.1918C>A
c.*1241C>A (n.*1241C>A)
n.4884C>A
n.3485C>A
c.3996C>A (p.Asp1332Glu)
c.4044C>A (p.Asp1348Glu)
c.4104C>A (p.Asp1368Glu)
c.3654C>A (p.Asp1218Glu)
c.1956C>A (p.Asp652Glu)
c.1773C>A (p.Asp591Glu)
c.4005C>A (p.Asp1335Glu)
c.3957C>A (p.Asp1319Glu)
c.3726C>A (p.Asp1242Glu)
c.3627C>A (p.Asp1209Glu)
c.2808C>A (p.Asp936Glu)
n.4359C>A
13g.51935015T>ACA388019805ATP7Bc.*1789A>T (n.*1789A>T)
c.*2883A>T (n.*2883A>T)
c.3518A>T (p.Asp1173Val)
c.4139A>T (p.Asp1380Val)
c.3806A>T (p.Asp1269Val)
c.3887A>T (p.Asp1296Val)
n.1462A>T
c.3905A>T (p.Asp1302Val)
n.4278A>T
n.1005A>T
c.3074A>T (p.Asp1025Val)
c.2849A>T (p.Asp950Val)
c.3944A>T (p.Asp1315Val)
c.1917A>T
c.*1240A>T (n.*1240A>T)
n.4883A>T
n.3484A>T
c.3995A>T (p.Asp1332Val)
c.4043A>T (p.Asp1348Val)
c.4103A>T (p.Asp1368Val)
c.3653A>T (p.Asp1218Val)
c.1955A>T (p.Asp652Val)
c.1772A>T (p.Asp591Val)
c.4004A>T (p.Asp1335Val)
c.3956A>T (p.Asp1319Val)
c.3725A>T (p.Asp1242Val)
c.3626A>T (p.Asp1209Val)
c.2807A>T (p.Asp936Val)
n.4358A>T
 gnomAD v4
13g.51935015T>CCA388019807ATP7Bc.*1789A>G (n.*1789A>G)
c.*2883A>G (n.*2883A>G)
c.3518A>G (p.Asp1173Gly)
c.4139A>G (p.Asp1380Gly)
c.3806A>G (p.Asp1269Gly)
c.3887A>G (p.Asp1296Gly)
n.1462A>G
c.3905A>G (p.Asp1302Gly)
n.4278A>G
n.1005A>G
c.3074A>G (p.Asp1025Gly)
c.2849A>G (p.Asp950Gly)
c.3944A>G (p.Asp1315Gly)
c.1917A>G
c.*1240A>G (n.*1240A>G)
n.4883A>G
n.3484A>G
c.3995A>G (p.Asp1332Gly)
c.4043A>G (p.Asp1348Gly)
c.4103A>G (p.Asp1368Gly)
c.3653A>G (p.Asp1218Gly)
c.1955A>G (p.Asp652Gly)
c.1772A>G (p.Asp591Gly)
c.4004A>G (p.Asp1335Gly)
c.3956A>G (p.Asp1319Gly)
c.3725A>G (p.Asp1242Gly)
c.3626A>G (p.Asp1209Gly)
c.2807A>G (p.Asp936Gly)
n.4358A>G
13g.51935015T>GCA388019809ATP7Bc.*1789A>C (n.*1789A>C)
c.*2883A>C (n.*2883A>C)
c.3518A>C (p.Asp1173Ala)
c.4139A>C (p.Asp1380Ala)
c.3806A>C (p.Asp1269Ala)
c.3887A>C (p.Asp1296Ala)
n.1462A>C
c.3905A>C (p.Asp1302Ala)
n.4278A>C
n.1005A>C
c.3074A>C (p.Asp1025Ala)
c.2849A>C (p.Asp950Ala)
c.3944A>C (p.Asp1315Ala)
c.1917A>C
c.*1240A>C (n.*1240A>C)
n.4883A>C
n.3484A>C
c.3995A>C (p.Asp1332Ala)
c.4043A>C (p.Asp1348Ala)
c.4103A>C (p.Asp1368Ala)
c.3653A>C (p.Asp1218Ala)
c.1955A>C (p.Asp652Ala)
c.1772A>C (p.Asp591Ala)
c.4004A>C (p.Asp1335Ala)
c.3956A>C (p.Asp1319Ala)
c.3725A>C (p.Asp1242Ala)
c.3626A>C (p.Asp1209Ala)
c.2807A>C (p.Asp936Ala)
n.4358A>C
13g.51935016C>ACA388019811ATP7Bc.*1788G>T (n.*1788G>T)
c.*2882G>T (n.*2882G>T)
c.3517G>T (p.Asp1173Tyr)
c.4138G>T (p.Asp1380Tyr)
c.3805G>T (p.Asp1269Tyr)
c.3886G>T (p.Asp1296Tyr)
n.1461G>T
c.3904G>T (p.Asp1302Tyr)
n.4277G>T
n.1004G>T
c.3073G>T (p.Asp1025Tyr)
c.2848G>T (p.Asp950Tyr)
c.3943G>T (p.Asp1315Tyr)
c.1916G>T
c.*1239G>T (n.*1239G>T)
n.4882G>T
n.3483G>T
c.3994G>T (p.Asp1332Tyr)
c.4042G>T (p.Asp1348Tyr)
c.4102G>T (p.Asp1368Tyr)
c.3652G>T (p.Asp1218Tyr)
c.1954G>T (p.Asp652Tyr)
c.1771G>T (p.Asp591Tyr)
c.4003G>T (p.Asp1335Tyr)
c.3955G>T (p.Asp1319Tyr)
c.3724G>T (p.Asp1242Tyr)
c.3625G>T (p.Asp1209Tyr)
c.2806G>T (p.Asp936Tyr)
n.4357G>T
13g.51935016C=CA2091550594ATP7Bc.*1788G= (n.*1788G=)
c.*2882G= (n.*2882G=)
c.3517G= (p.Asp1173=)
c.4138G= (p.Asp1380=)
c.3805G= (p.Asp1269=)
c.3886G= (p.Asp1296=)
n.1461G=
c.3904G= (p.Asp1302=)
n.4277G=
n.1004G=
c.3073G= (p.Asp1025=)
c.2848G= (p.Asp950=)
c.3943G= (p.Asp1315=)
c.1916G=
c.*1239G= (n.*1239G=)
n.4882G=
n.3483G=
c.3994G= (p.Asp1332=)
c.4042G= (p.Asp1348=)
c.4102G= (p.Asp1368=)
c.3652G= (p.Asp1218=)
c.1954G= (p.Asp652=)
c.1771G= (p.Asp591=)
c.4003G= (p.Asp1335=)
c.3955G= (p.Asp1319=)
c.3724G= (p.Asp1242=)
c.3625G= (p.Asp1209=)
c.2806G= (p.Asp936=)
n.4357G=
13g.51935016C>GCA388019814ATP7Bc.*1788G>C (n.*1788G>C)
c.*2882G>C (n.*2882G>C)
c.3517G>C (p.Asp1173His)
c.4138G>C (p.Asp1380His)
c.3805G>C (p.Asp1269His)
c.3886G>C (p.Asp1296His)
n.1461G>C
c.3904G>C (p.Asp1302His)
n.4277G>C
n.1004G>C
c.3073G>C (p.Asp1025His)
c.2848G>C (p.Asp950His)
c.3943G>C (p.Asp1315His)
c.1916G>C
c.*1239G>C (n.*1239G>C)
n.4882G>C
n.3483G>C
c.3994G>C (p.Asp1332His)
c.4042G>C (p.Asp1348His)
c.4102G>C (p.Asp1368His)
c.3652G>C (p.Asp1218His)
c.1954G>C (p.Asp652His)
c.1771G>C (p.Asp591His)
c.4003G>C (p.Asp1335His)
c.3955G>C (p.Asp1319His)
c.3724G>C (p.Asp1242His)
c.3625G>C (p.Asp1209His)
c.2806G>C (p.Asp936His)
n.4357G>C
13g.51935016C>TCA6988470ATP7Bc.*1788G>A (n.*1788G>A)
c.*2882G>A (n.*2882G>A)
c.3517G>A (p.Asp1173Asn)
c.4138G>A (p.Asp1380Asn)
c.3805G>A (p.Asp1269Asn)
c.3886G>A (p.Asp1296Asn)
n.1461G>A
c.3904G>A (p.Asp1302Asn)
n.4277G>A
n.1004G>A
c.3073G>A (p.Asp1025Asn)
c.2848G>A (p.Asp950Asn)
c.3943G>A (p.Asp1315Asn)
c.1916G>A
c.*1239G>A (n.*1239G>A)
n.4882G>A
n.3483G>A
c.3994G>A (p.Asp1332Asn)
c.4042G>A (p.Asp1348Asn)
c.4102G>A (p.Asp1368Asn)
c.3652G>A (p.Asp1218Asn)
c.1954G>A (p.Asp652Asn)
c.1771G>A (p.Asp591Asn)
c.4003G>A (p.Asp1335Asn)
c.3955G>A (p.Asp1319Asn)
c.3724G>A (p.Asp1242Asn)
c.3625G>A (p.Asp1209Asn)
c.2806G>A (p.Asp936Asn)
n.4357G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51935017A>CCA484024230ATP7Bc.*1787T>G (n.*1787T>G)
c.*2881T>G (n.*2881T>G)
c.3516T>G (p.Pro1172=)
c.4137T>G (p.Pro1379=)
c.3804T>G (p.Pro1268=)
c.3885T>G (p.Pro1295=)
n.1460T>G
c.3903T>G (p.Pro1301=)
n.4276T>G
n.1003T>G
c.3072T>G (p.Pro1024=)
c.2847T>G (p.Pro949=)
c.3942T>G (p.Pro1314=)
c.1915T>G
c.*1238T>G (n.*1238T>G)
n.4881T>G
n.3482T>G
c.3993T>G (p.Pro1331=)
c.4041T>G (p.Pro1347=)
c.4101T>G (p.Pro1367=)
c.3651T>G (p.Pro1217=)
c.1953T>G (p.Pro651=)
c.1770T>G (p.Pro590=)
c.4002T>G (p.Pro1334=)
c.3954T>G (p.Pro1318=)
c.3723T>G (p.Pro1241=)
c.3624T>G (p.Pro1208=)
c.2805T>G (p.Pro935=)
n.4356T>G
13g.51935017A>GCA484024231ATP7Bc.*1787T>C (n.*1787T>C)
c.*2881T>C (n.*2881T>C)
c.3516T>C (p.Pro1172=)
c.4137T>C (p.Pro1379=)
c.3804T>C (p.Pro1268=)
c.3885T>C (p.Pro1295=)
n.1460T>C
c.3903T>C (p.Pro1301=)
n.4276T>C
n.1003T>C
c.3072T>C (p.Pro1024=)
c.2847T>C (p.Pro949=)
c.3942T>C (p.Pro1314=)
c.1915T>C
c.*1238T>C (n.*1238T>C)
n.4881T>C
n.3482T>C
c.3993T>C (p.Pro1331=)
c.4041T>C (p.Pro1347=)
c.4101T>C (p.Pro1367=)
c.3651T>C (p.Pro1217=)
c.1953T>C (p.Pro651=)
c.1770T>C (p.Pro590=)
c.4002T>C (p.Pro1334=)
c.3954T>C (p.Pro1318=)
c.3723T>C (p.Pro1241=)
c.3624T>C (p.Pro1208=)
c.2805T>C (p.Pro935=)
n.4356T>C
13g.51935017A>TCA484024232ATP7Bc.*1787T>A (n.*1787T>A)
c.*2881T>A (n.*2881T>A)
c.3516T>A (p.Pro1172=)
c.4137T>A (p.Pro1379=)
c.3804T>A (p.Pro1268=)
c.3885T>A (p.Pro1295=)
n.1460T>A
c.3903T>A (p.Pro1301=)
n.4276T>A
n.1003T>A
c.3072T>A (p.Pro1024=)
c.2847T>A (p.Pro949=)
c.3942T>A (p.Pro1314=)
c.1915T>A
c.*1238T>A (n.*1238T>A)
n.4881T>A
n.3482T>A
c.3993T>A (p.Pro1331=)
c.4041T>A (p.Pro1347=)
c.4101T>A (p.Pro1367=)
c.3651T>A (p.Pro1217=)
c.1953T>A (p.Pro651=)
c.1770T>A (p.Pro590=)
c.4002T>A (p.Pro1334=)
c.3954T>A (p.Pro1318=)
c.3723T>A (p.Pro1241=)
c.3624T>A (p.Pro1208=)
c.2805T>A (p.Pro935=)
n.4356T>A
13g.51935018G>ACA388019816ATP7Bc.*1786C>T (n.*1786C>T)
c.*2880C>T (n.*2880C>T)
c.3515C>T (p.Pro1172Leu)
c.4136C>T (p.Pro1379Leu)
c.3803C>T (p.Pro1268Leu)
c.3884C>T (p.Pro1295Leu)
n.1459C>T
c.3902C>T (p.Pro1301Leu)
n.4275C>T
n.1002C>T
c.3071C>T (p.Pro1024Leu)
c.2846C>T (p.Pro949Leu)
c.3941C>T (p.Pro1314Leu)
c.1914C>T
c.*1237C>T (n.*1237C>T)
n.4880C>T
n.3481C>T
c.3992C>T (p.Pro1331Leu)
c.4040C>T (p.Pro1347Leu)
c.4100C>T (p.Pro1367Leu)
c.3650C>T (p.Pro1217Leu)
c.1952C>T (p.Pro651Leu)
c.1769C>T (p.Pro590Leu)
c.4001C>T (p.Pro1334Leu)
c.3953C>T (p.Pro1318Leu)
c.3722C>T (p.Pro1241Leu)
c.3623C>T (p.Pro1208Leu)
c.2804C>T (p.Pro935Leu)
n.4355C>T
13g.51935018G>CCA388019818ATP7Bc.*1786C>G (n.*1786C>G)
c.*2880C>G (n.*2880C>G)
c.3515C>G (p.Pro1172Arg)
c.4136C>G (p.Pro1379Arg)
c.3803C>G (p.Pro1268Arg)
c.3884C>G (p.Pro1295Arg)
n.1459C>G
c.3902C>G (p.Pro1301Arg)
n.4275C>G
n.1002C>G
c.3071C>G (p.Pro1024Arg)
c.2846C>G (p.Pro949Arg)
c.3941C>G (p.Pro1314Arg)
c.1914C>G
c.*1237C>G (n.*1237C>G)
n.4880C>G
n.3481C>G
c.3992C>G (p.Pro1331Arg)
c.4040C>G (p.Pro1347Arg)
c.4100C>G (p.Pro1367Arg)
c.3650C>G (p.Pro1217Arg)
c.1952C>G (p.Pro651Arg)
c.1769C>G (p.Pro590Arg)
c.4001C>G (p.Pro1334Arg)
c.3953C>G (p.Pro1318Arg)
c.3722C>G (p.Pro1241Arg)
c.3623C>G (p.Pro1208Arg)
c.2804C>G (p.Pro935Arg)
n.4355C>G
13g.51935018G>TCA388019820ATP7Bc.*1786C>A (n.*1786C>A)
c.*2880C>A (n.*2880C>A)
c.3515C>A (p.Pro1172His)
c.4136C>A (p.Pro1379His)
c.3803C>A (p.Pro1268His)
c.3884C>A (p.Pro1295His)
n.1459C>A
c.3902C>A (p.Pro1301His)
n.4275C>A
n.1002C>A
c.3071C>A (p.Pro1024His)
c.2846C>A (p.Pro949His)
c.3941C>A (p.Pro1314His)
c.1914C>A
c.*1237C>A (n.*1237C>A)
n.4880C>A
n.3481C>A
c.3992C>A (p.Pro1331His)
c.4040C>A (p.Pro1347His)
c.4100C>A (p.Pro1367His)
c.3650C>A (p.Pro1217His)
c.1952C>A (p.Pro651His)
c.1769C>A (p.Pro590His)
c.4001C>A (p.Pro1334His)
c.3953C>A (p.Pro1318His)
c.3722C>A (p.Pro1241His)
c.3623C>A (p.Pro1208His)
c.2804C>A (p.Pro935His)
n.4355C>A
13g.51935019G>ACA271180ATP7Bc.*1785C>T (n.*1785C>T)
c.*2879C>T (n.*2879C>T)
c.3514C>T (p.Pro1172Ser)
c.4135C>T (p.Pro1379Ser)
c.3802C>T (p.Pro1268Ser)
c.3883C>T (p.Pro1295Ser)
n.1458C>T
c.3901C>T (p.Pro1301Ser)
n.4274C>T
n.1001C>T
c.3070C>T (p.Pro1024Ser)
c.2845C>T (p.Pro949Ser)
c.3940C>T (p.Pro1314Ser)
c.1913C>T
c.*1236C>T (n.*1236C>T)
n.4879C>T
n.3480C>T
c.3991C>T (p.Pro1331Ser)
c.4039C>T (p.Pro1347Ser)
c.4099C>T (p.Pro1367Ser)
c.3649C>T (p.Pro1217Ser)
c.1951C>T (p.Pro651Ser)
c.1768C>T (p.Pro590Ser)
c.4000C>T (p.Pro1334Ser)
c.3952C>T (p.Pro1318Ser)
c.3721C>T (p.Pro1241Ser)
c.3622C>T (p.Pro1208Ser)
c.2803C>T (p.Pro935Ser)
n.4354C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51935019G>CCA388019823ATP7Bc.*1785C>G (n.*1785C>G)
c.*2879C>G (n.*2879C>G)
c.3514C>G (p.Pro1172Ala)
c.4135C>G (p.Pro1379Ala)
c.3802C>G (p.Pro1268Ala)
c.3883C>G (p.Pro1295Ala)
n.1458C>G
c.3901C>G (p.Pro1301Ala)
n.4274C>G
n.1001C>G
c.3070C>G (p.Pro1024Ala)
c.2845C>G (p.Pro949Ala)
c.3940C>G (p.Pro1314Ala)
c.1913C>G
c.*1236C>G (n.*1236C>G)
n.4879C>G
n.3480C>G
c.3991C>G (p.Pro1331Ala)
c.4039C>G (p.Pro1347Ala)
c.4099C>G (p.Pro1367Ala)
c.3649C>G (p.Pro1217Ala)
c.1951C>G (p.Pro651Ala)
c.1768C>G (p.Pro590Ala)
c.4000C>G (p.Pro1334Ala)
c.3952C>G (p.Pro1318Ala)
c.3721C>G (p.Pro1241Ala)
c.3622C>G (p.Pro1208Ala)
c.2803C>G (p.Pro935Ala)
n.4354C>G
13g.51935019G=CA2091550598ATP7Bc.*1785C= (n.*1785C=)
c.*2879C= (n.*2879C=)
c.3514C= (p.Pro1172=)
c.4135C= (p.Pro1379=)
c.3802C= (p.Pro1268=)
c.3883C= (p.Pro1295=)
n.1458C=
c.3901C= (p.Pro1301=)
n.4274C=
n.1001C=
c.3070C= (p.Pro1024=)
c.2845C= (p.Pro949=)
c.3940C= (p.Pro1314=)
c.1913C=
c.*1236C= (n.*1236C=)
n.4879C=
n.3480C=
c.3991C= (p.Pro1331=)
c.4039C= (p.Pro1347=)
c.4099C= (p.Pro1367=)
c.3649C= (p.Pro1217=)
c.1951C= (p.Pro651=)
c.1768C= (p.Pro590=)
c.4000C= (p.Pro1334=)
c.3952C= (p.Pro1318=)
c.3721C= (p.Pro1241=)
c.3622C= (p.Pro1208=)
c.2803C= (p.Pro935=)
n.4354C=
13g.51935019G>TCA388019825ATP7Bc.*1785C>A (n.*1785C>A)
c.*2879C>A (n.*2879C>A)
c.3514C>A (p.Pro1172Thr)
c.4135C>A (p.Pro1379Thr)
c.3802C>A (p.Pro1268Thr)
c.3883C>A (p.Pro1295Thr)
n.1458C>A
c.3901C>A (p.Pro1301Thr)
n.4274C>A
n.1001C>A
c.3070C>A (p.Pro1024Thr)
c.2845C>A (p.Pro949Thr)
c.3940C>A (p.Pro1314Thr)
c.1913C>A
c.*1236C>A (n.*1236C>A)
n.4879C>A
n.3480C>A
c.3991C>A (p.Pro1331Thr)
c.4039C>A (p.Pro1347Thr)
c.4099C>A (p.Pro1367Thr)
c.3649C>A (p.Pro1217Thr)
c.1951C>A (p.Pro651Thr)
c.1768C>A (p.Pro590Thr)
c.4000C>A (p.Pro1334Thr)
c.3952C>A (p.Pro1318Thr)
c.3721C>A (p.Pro1241Thr)
c.3622C>A (p.Pro1208Thr)
c.2803C>A (p.Pro935Thr)
n.4354C>A
13g.51935019_51935022delinsGCTTCA2091550602ATP7Bc.*1782_*1785delinsAAGC (n.*1782_*1785delinsAAGC)
c.*2876_*2879delinsAAGC (n.*2876_*2879delinsAAGC)
c.3511_3514delinsAAGC (p.Lys1171=)
c.4132_4135delinsAAGC (p.Lys1378=)
c.3799_3802delinsAAGC (p.Lys1267=)
c.3880_3883delinsAAGC (p.Lys1294=)
n.1455_1458delinsAAGC
c.3898_3901delinsAAGC (p.Lys1300=)
n.4271_4274delinsAAGC
n.998_1001delinsAAGC
c.3067_3070delinsAAGC (p.Lys1023=)
c.2842_2845delinsAAGC (p.Lys948=)
c.3937_3940delinsAAGC (p.Lys1313=)
c.1910_1913delinsAAGC
c.*1233_*1236delinsAAGC (n.*1233_*1236delinsAAGC)
n.4876_4879delinsAAGC
n.3477_3480delinsAAGC
c.3988_3991delinsAAGC (p.Lys1330=)
c.4036_4039delinsAAGC (p.Lys1346=)
c.4096_4099delinsAAGC (p.Lys1366=)
c.3646_3649delinsAAGC (p.Lys1216=)
c.1948_1951delinsAAGC (p.Lys650=)
c.1765_1768delinsAAGC (p.Lys589=)
c.3997_4000delinsAAGC (p.Lys1333=)
c.3949_3952delinsAAGC (p.Lys1317=)
c.3718_3721delinsAAGC (p.Lys1240=)
c.3619_3622delinsAAGC (p.Lys1207=)
c.2800_2803delinsAAGC (p.Lys934=)
n.4351_4354delinsAAGC
13g.51935020C>ACA388019827ATP7Bc.*1784G>T (n.*1784G>T)
c.*2878G>T (n.*2878G>T)
c.3513G>T (p.Lys1171Asn)
c.4134G>T (p.Lys1378Asn)
c.3801G>T (p.Lys1267Asn)
c.3882G>T (p.Lys1294Asn)
n.1457G>T
c.3900G>T (p.Lys1300Asn)
n.4273G>T
n.1000G>T
c.3069G>T (p.Lys1023Asn)
c.2844G>T (p.Lys948Asn)
c.3939G>T (p.Lys1313Asn)
c.1912G>T
c.*1235G>T (n.*1235G>T)
n.4878G>T
n.3479G>T
c.3990G>T (p.Lys1330Asn)
c.4038G>T (p.Lys1346Asn)
c.4098G>T (p.Lys1366Asn)
c.3648G>T (p.Lys1216Asn)
c.1950G>T (p.Lys650Asn)
c.1767G>T (p.Lys589Asn)
c.3999G>T (p.Lys1333Asn)
c.3951G>T (p.Lys1317Asn)
c.3720G>T (p.Lys1240Asn)
c.3621G>T (p.Lys1207Asn)
c.2802G>T (p.Lys934Asn)
n.4353G>T
13g.51935020C>GCA388019829ATP7Bc.*1784G>C (n.*1784G>C)
c.*2878G>C (n.*2878G>C)
c.3513G>C (p.Lys1171Asn)
c.4134G>C (p.Lys1378Asn)
c.3801G>C (p.Lys1267Asn)
c.3882G>C (p.Lys1294Asn)
n.1457G>C
c.3900G>C (p.Lys1300Asn)
n.4273G>C
n.1000G>C
c.3069G>C (p.Lys1023Asn)
c.2844G>C (p.Lys948Asn)
c.3939G>C (p.Lys1313Asn)
c.1912G>C
c.*1235G>C (n.*1235G>C)
n.4878G>C
n.3479G>C
c.3990G>C (p.Lys1330Asn)
c.4038G>C (p.Lys1346Asn)
c.4098G>C (p.Lys1366Asn)
c.3648G>C (p.Lys1216Asn)
c.1950G>C (p.Lys650Asn)
c.1767G>C (p.Lys589Asn)
c.3999G>C (p.Lys1333Asn)
c.3951G>C (p.Lys1317Asn)
c.3720G>C (p.Lys1240Asn)
c.3621G>C (p.Lys1207Asn)
c.2802G>C (p.Lys934Asn)
n.4353G>C
13g.51935020C>TCA484024233ATP7Bc.*1784G>A (n.*1784G>A)
c.*2878G>A (n.*2878G>A)
c.3513G>A (p.Lys1171=)
c.4134G>A (p.Lys1378=)
c.3801G>A (p.Lys1267=)
c.3882G>A (p.Lys1294=)
n.1457G>A
c.3900G>A (p.Lys1300=)
n.4273G>A
n.1000G>A
c.3069G>A (p.Lys1023=)
c.2844G>A (p.Lys948=)
c.3939G>A (p.Lys1313=)
c.1912G>A
c.*1235G>A (n.*1235G>A)
n.4878G>A
n.3479G>A
c.3990G>A (p.Lys1330=)
c.4038G>A (p.Lys1346=)
c.4098G>A (p.Lys1366=)
c.3648G>A (p.Lys1216=)
c.1950G>A (p.Lys650=)
c.1767G>A (p.Lys589=)
c.3999G>A (p.Lys1333=)
c.3951G>A (p.Lys1317=)
c.3720G>A (p.Lys1240=)
c.3621G>A (p.Lys1207=)
c.2802G>A (p.Lys934=)
n.4353G>A
13g.51935023_51935025delCA956025082ATP7Bc.*1782_*1784del (n.*1782_*1784del)
c.*2876_*2878del (n.*2876_*2878del)
c.3511_3513del (p.Lys1171del)
c.4132_4134del (p.Lys1378del)
c.3799_3801del (p.Lys1267del)
c.3880_3882del (p.Lys1294del)
n.1455_1457del
c.3898_3900del (p.Lys1300del)
n.4271_4273del
n.998_1000del
c.3067_3069del (p.Lys1023del)
c.2842_2844del (p.Lys948del)
c.3937_3939del (p.Lys1313del)
c.1910_1912del
c.*1233_*1235del (n.*1233_*1235del)
n.4876_4878del
n.3477_3479del
c.3988_3990del (p.Lys1330del)
c.4036_4038del (p.Lys1346del)
c.4096_4098del (p.Lys1366del)
c.3646_3648del (p.Lys1216del)
c.1948_1950del (p.Lys650del)
c.1765_1767del (p.Lys589del)
c.3997_3999del (p.Lys1333del)
c.3949_3951del (p.Lys1317del)
c.3718_3720del (p.Lys1240del)
c.3619_3621del (p.Lys1207del)
c.2800_2802del (p.Lys934del)
n.4351_4353del
 dbSNP gnomAD v3 gnomAD v4
13g.51935021T>ACA388019831ATP7Bc.*1783A>T (n.*1783A>T)
c.*2877A>T (n.*2877A>T)
c.3512A>T (p.Lys1171Met)
c.4133A>T (p.Lys1378Met)
c.3800A>T (p.Lys1267Met)
c.3881A>T (p.Lys1294Met)
n.1456A>T
c.3899A>T (p.Lys1300Met)
n.4272A>T
n.999A>T
c.3068A>T (p.Lys1023Met)
c.2843A>T (p.Lys948Met)
c.3938A>T (p.Lys1313Met)
c.1911A>T
c.*1234A>T (n.*1234A>T)
n.4877A>T
n.3478A>T
c.3989A>T (p.Lys1330Met)
c.4037A>T (p.Lys1346Met)
c.4097A>T (p.Lys1366Met)
c.3647A>T (p.Lys1216Met)
c.1949A>T (p.Lys650Met)
c.1766A>T (p.Lys589Met)
c.3998A>T (p.Lys1333Met)
c.3950A>T (p.Lys1317Met)
c.3719A>T (p.Lys1240Met)
c.3620A>T (p.Lys1207Met)
c.2801A>T (p.Lys934Met)
n.4352A>T
13g.51935021T>CCA388019833ATP7Bc.*1783A>G (n.*1783A>G)
c.*2877A>G (n.*2877A>G)
c.3512A>G (p.Lys1171Arg)
c.4133A>G (p.Lys1378Arg)
c.3800A>G (p.Lys1267Arg)
c.3881A>G (p.Lys1294Arg)
n.1456A>G
c.3899A>G (p.Lys1300Arg)
n.4272A>G
n.999A>G
c.3068A>G (p.Lys1023Arg)
c.2843A>G (p.Lys948Arg)
c.3938A>G (p.Lys1313Arg)
c.1911A>G
c.*1234A>G (n.*1234A>G)
n.4877A>G
n.3478A>G
c.3989A>G (p.Lys1330Arg)
c.4037A>G (p.Lys1346Arg)
c.4097A>G (p.Lys1366Arg)
c.3647A>G (p.Lys1216Arg)
c.1949A>G (p.Lys650Arg)
c.1766A>G (p.Lys589Arg)
c.3998A>G (p.Lys1333Arg)
c.3950A>G (p.Lys1317Arg)
c.3719A>G (p.Lys1240Arg)
c.3620A>G (p.Lys1207Arg)
c.2801A>G (p.Lys934Arg)
n.4352A>G
13g.51935021T>GCA388019835ATP7Bc.*1783A>C (n.*1783A>C)
c.*2877A>C (n.*2877A>C)
c.3512A>C (p.Lys1171Thr)
c.4133A>C (p.Lys1378Thr)
c.3800A>C (p.Lys1267Thr)
c.3881A>C (p.Lys1294Thr)
n.1456A>C
c.3899A>C (p.Lys1300Thr)
n.4272A>C
n.999A>C
c.3068A>C (p.Lys1023Thr)
c.2843A>C (p.Lys948Thr)
c.3938A>C (p.Lys1313Thr)
c.1911A>C
c.*1234A>C (n.*1234A>C)
n.4877A>C
n.3478A>C
c.3989A>C (p.Lys1330Thr)
c.4037A>C (p.Lys1346Thr)
c.4097A>C (p.Lys1366Thr)
c.3647A>C (p.Lys1216Thr)
c.1949A>C (p.Lys650Thr)
c.1766A>C (p.Lys589Thr)
c.3998A>C (p.Lys1333Thr)
c.3950A>C (p.Lys1317Thr)
c.3719A>C (p.Lys1240Thr)
c.3620A>C (p.Lys1207Thr)
c.2801A>C (p.Lys934Thr)
n.4352A>C
13g.51935022T>ACA388019841ATP7Bc.*1782A>T (n.*1782A>T)
c.*2876A>T (n.*2876A>T)
c.3511A>T (p.Lys1171Ter)
c.4132A>T (p.Lys1378Ter)
c.3799A>T (p.Lys1267Ter)
c.3880A>T (p.Lys1294Ter)
n.1455A>T
c.3898A>T (p.Lys1300Ter)
n.4271A>T
n.998A>T
c.3067A>T (p.Lys1023Ter)
c.2842A>T (p.Lys948Ter)
c.3937A>T (p.Lys1313Ter)
c.1910A>T
c.*1233A>T (n.*1233A>T)
n.4876A>T
n.3477A>T
c.3988A>T (p.Lys1330Ter)
c.4036A>T (p.Lys1346Ter)
c.4096A>T (p.Lys1366Ter)
c.3646A>T (p.Lys1216Ter)
c.1948A>T (p.Lys650Ter)
c.1765A>T (p.Lys589Ter)
c.3997A>T (p.Lys1333Ter)
c.3949A>T (p.Lys1317Ter)
c.3718A>T (p.Lys1240Ter)
c.3619A>T (p.Lys1207Ter)
c.2800A>T (p.Lys934Ter)
n.4351A>T
13g.51935022T>CCA388019837ATP7Bc.*1782A>G (n.*1782A>G)
c.*2876A>G (n.*2876A>G)
c.3511A>G (p.Lys1171Glu)
c.4132A>G (p.Lys1378Glu)
c.3799A>G (p.Lys1267Glu)
c.3880A>G (p.Lys1294Glu)
n.1455A>G
c.3898A>G (p.Lys1300Glu)
n.4271A>G
n.998A>G
c.3067A>G (p.Lys1023Glu)
c.2842A>G (p.Lys948Glu)
c.3937A>G (p.Lys1313Glu)
c.1910A>G
c.*1233A>G (n.*1233A>G)
n.4876A>G
n.3477A>G
c.3988A>G (p.Lys1330Glu)
c.4036A>G (p.Lys1346Glu)
c.4096A>G (p.Lys1366Glu)
c.3646A>G (p.Lys1216Glu)
c.1948A>G (p.Lys650Glu)
c.1765A>G (p.Lys589Glu)
c.3997A>G (p.Lys1333Glu)
c.3949A>G (p.Lys1317Glu)
c.3718A>G (p.Lys1240Glu)
c.3619A>G (p.Lys1207Glu)
c.2800A>G (p.Lys934Glu)
n.4351A>G
 dbSNP
13g.51935022T>GCA388019839ATP7Bc.*1782A>C (n.*1782A>C)
c.*2876A>C (n.*2876A>C)
c.3511A>C (p.Lys1171Gln)
c.4132A>C (p.Lys1378Gln)
c.3799A>C (p.Lys1267Gln)
c.3880A>C (p.Lys1294Gln)
n.1455A>C
c.3898A>C (p.Lys1300Gln)
n.4271A>C
n.998A>C
c.3067A>C (p.Lys1023Gln)
c.2842A>C (p.Lys948Gln)
c.3937A>C (p.Lys1313Gln)
c.1910A>C
c.*1233A>C (n.*1233A>C)
n.4876A>C
n.3477A>C
c.3988A>C (p.Lys1330Gln)
c.4036A>C (p.Lys1346Gln)
c.4096A>C (p.Lys1366Gln)
c.3646A>C (p.Lys1216Gln)
c.1948A>C (p.Lys650Gln)
c.1765A>C (p.Lys589Gln)
c.3997A>C (p.Lys1333Gln)
c.3949A>C (p.Lys1317Gln)
c.3718A>C (p.Lys1240Gln)
c.3619A>C (p.Lys1207Gln)
c.2800A>C (p.Lys934Gln)
n.4351A>C
13g.51935022T=CA2091550606ATP7Bc.*1782A= (n.*1782A=)
c.*2876A= (n.*2876A=)
c.3511A= (p.Lys1171=)
c.4132A= (p.Lys1378=)
c.3799A= (p.Lys1267=)
c.3880A= (p.Lys1294=)
n.1455A=
c.3898A= (p.Lys1300=)
n.4271A=
n.998A=
c.3067A= (p.Lys1023=)
c.2842A= (p.Lys948=)
c.3937A= (p.Lys1313=)
c.1910A=
c.*1233A= (n.*1233A=)
n.4876A=
n.3477A=
c.3988A= (p.Lys1330=)
c.4036A= (p.Lys1346=)
c.4096A= (p.Lys1366=)
c.3646A= (p.Lys1216=)
c.1948A= (p.Lys650=)
c.1765A= (p.Lys589=)
c.3997A= (p.Lys1333=)
c.3949A= (p.Lys1317=)
c.3718A= (p.Lys1240=)
c.3619A= (p.Lys1207=)
c.2800A= (p.Lys934=)
n.4351A=
13g.51935023C>ACA388019842ATP7Bc.*1781G>T (n.*1781G>T)
c.*2875G>T (n.*2875G>T)
c.3510G>T (p.Lys1170Asn)
c.4131G>T (p.Lys1377Asn)
c.3798G>T (p.Lys1266Asn)
c.3879G>T (p.Lys1293Asn)
n.1454G>T
c.3897G>T (p.Lys1299Asn)
n.4270G>T
n.997G>T
c.3066G>T (p.Lys1022Asn)
c.2841G>T (p.Lys947Asn)
c.3936G>T (p.Lys1312Asn)
c.1909G>T
c.*1232G>T (n.*1232G>T)
n.4875G>T
n.3476G>T
c.3987G>T (p.Lys1329Asn)
c.4035G>T (p.Lys1345Asn)
c.4095G>T (p.Lys1365Asn)
c.3645G>T (p.Lys1215Asn)
c.1947G>T (p.Lys649Asn)
c.1764G>T (p.Lys588Asn)
c.3996G>T (p.Lys1332Asn)
c.3948G>T (p.Lys1316Asn)
c.3717G>T (p.Lys1239Asn)
c.3618G>T (p.Lys1206Asn)
c.2799G>T (p.Lys933Asn)
n.4350G>T
13g.51935023C>GCA388019843ATP7Bc.*1781G>C (n.*1781G>C)
c.*2875G>C (n.*2875G>C)
c.3510G>C (p.Lys1170Asn)
c.4131G>C (p.Lys1377Asn)
c.3798G>C (p.Lys1266Asn)
c.3879G>C (p.Lys1293Asn)
n.1454G>C
c.3897G>C (p.Lys1299Asn)
n.4270G>C
n.997G>C
c.3066G>C (p.Lys1022Asn)
c.2841G>C (p.Lys947Asn)
c.3936G>C (p.Lys1312Asn)
c.1909G>C
c.*1232G>C (n.*1232G>C)
n.4875G>C
n.3476G>C
c.3987G>C (p.Lys1329Asn)
c.4035G>C (p.Lys1345Asn)
c.4095G>C (p.Lys1365Asn)
c.3645G>C (p.Lys1215Asn)
c.1947G>C (p.Lys649Asn)
c.1764G>C (p.Lys588Asn)
c.3996G>C (p.Lys1332Asn)
c.3948G>C (p.Lys1316Asn)
c.3717G>C (p.Lys1239Asn)
c.3618G>C (p.Lys1206Asn)
c.2799G>C (p.Lys933Asn)
n.4350G>C
13g.51935023C>TCA484024234ATP7Bc.*1781G>A (n.*1781G>A)
c.*2875G>A (n.*2875G>A)
c.3510G>A (p.Lys1170=)
c.4131G>A (p.Lys1377=)
c.3798G>A (p.Lys1266=)
c.3879G>A (p.Lys1293=)
n.1454G>A
c.3897G>A (p.Lys1299=)
n.4270G>A
n.997G>A
c.3066G>A (p.Lys1022=)
c.2841G>A (p.Lys947=)
c.3936G>A (p.Lys1312=)
c.1909G>A
c.*1232G>A (n.*1232G>A)
n.4875G>A
n.3476G>A
c.3987G>A (p.Lys1329=)
c.4035G>A (p.Lys1345=)
c.4095G>A (p.Lys1365=)
c.3645G>A (p.Lys1215=)
c.1947G>A (p.Lys649=)
c.1764G>A (p.Lys588=)
c.3996G>A (p.Lys1332=)
c.3948G>A (p.Lys1316=)
c.3717G>A (p.Lys1239=)
c.3618G>A (p.Lys1206=)
c.2799G>A (p.Lys933=)
n.4350G>A

Number of alleles fetched