Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51937479G>ACA484024270ATP7Bc.*1550C>T (n.*1550C>T)
c.*2644C>T (n.*2644C>T)
c.3279C>T (p.Ile1093=)
c.3900C>T (p.Ile1300=)
c.3567C>T (p.Ile1189=)
c.3648C>T (p.Ile1216=)
n.1141C>T
c.3666C>T (p.Ile1222=)
n.4039C>T
n.766C>T
c.2835C>T (p.Ile945=)
c.2610C>T (p.Ile870=)
c.3705C>T (p.Ile1235=)
c.1678C>T
c.*1001C>T (n.*1001C>T)
n.4644C>T
n.3245C>T
c.3756C>T (p.Ile1252=)
c.3804C>T (p.Ile1268=)
c.3864C>T (p.Ile1288=)
c.3414C>T (p.Ile1138=)
c.1716C>T (p.Ile572=)
c.1533C>T (p.Ile511=)
c.3765C>T (p.Ile1255=)
c.3717C>T (p.Ile1239=)
c.3486C>T (p.Ile1162=)
c.3387C>T (p.Ile1129=)
c.2568C>T (p.Ile856=)
n.4119C>T
gnomAD v4
13g.51937479G>CCA388021358ATP7Bc.*1550C>G (n.*1550C>G)
c.*2644C>G (n.*2644C>G)
c.3279C>G (p.Ile1093Met)
c.3900C>G (p.Ile1300Met)
c.3567C>G (p.Ile1189Met)
c.3648C>G (p.Ile1216Met)
n.1141C>G
c.3666C>G (p.Ile1222Met)
n.4039C>G
n.766C>G
c.2835C>G (p.Ile945Met)
c.2610C>G (p.Ile870Met)
c.3705C>G (p.Ile1235Met)
c.1678C>G
c.*1001C>G (n.*1001C>G)
n.4644C>G
n.3245C>G
c.3756C>G (p.Ile1252Met)
c.3804C>G (p.Ile1268Met)
c.3864C>G (p.Ile1288Met)
c.3414C>G (p.Ile1138Met)
c.1716C>G (p.Ile572Met)
c.1533C>G (p.Ile511Met)
c.3765C>G (p.Ile1255Met)
c.3717C>G (p.Ile1239Met)
c.3486C>G (p.Ile1162Met)
c.3387C>G (p.Ile1129Met)
c.2568C>G (p.Ile856Met)
n.4119C>G
13g.51937479G>TCA484024269ATP7Bc.*1550C>A (n.*1550C>A)
c.*2644C>A (n.*2644C>A)
c.3279C>A (p.Ile1093=)
c.3900C>A (p.Ile1300=)
c.3567C>A (p.Ile1189=)
c.3648C>A (p.Ile1216=)
n.1141C>A
c.3666C>A (p.Ile1222=)
n.4039C>A
n.766C>A
c.2835C>A (p.Ile945=)
c.2610C>A (p.Ile870=)
c.3705C>A (p.Ile1235=)
c.1678C>A
c.*1001C>A (n.*1001C>A)
n.4644C>A
n.3245C>A
c.3756C>A (p.Ile1252=)
c.3804C>A (p.Ile1268=)
c.3864C>A (p.Ile1288=)
c.3414C>A (p.Ile1138=)
c.1716C>A (p.Ile572=)
c.1533C>A (p.Ile511=)
c.3765C>A (p.Ile1255=)
c.3717C>A (p.Ile1239=)
c.3486C>A (p.Ile1162=)
c.3387C>A (p.Ile1129=)
c.2568C>A (p.Ile856=)
n.4119C>A
13g.51937480A=CA2091553669ATP7Bc.*1549T= (n.*1549T=)
c.*2643T= (n.*2643T=)
c.3278T= (p.Ile1093=)
c.3899T= (p.Ile1300=)
c.3566T= (p.Ile1189=)
c.3647T= (p.Ile1216=)
n.1140T=
c.3665T= (p.Ile1222=)
n.4038T=
n.765T=
c.2834T= (p.Ile945=)
c.2609T= (p.Ile870=)
c.3704T= (p.Ile1235=)
c.1677T=
c.*1000T= (n.*1000T=)
n.4643T=
n.3244T=
c.3755T= (p.Ile1252=)
c.3803T= (p.Ile1268=)
c.3863T= (p.Ile1288=)
c.3413T= (p.Ile1138=)
c.1715T= (p.Ile572=)
c.1532T= (p.Ile511=)
c.3764T= (p.Ile1255=)
c.3716T= (p.Ile1239=)
c.3485T= (p.Ile1162=)
c.3386T= (p.Ile1129=)
c.2567T= (p.Ile856=)
n.4118T=
13g.51937480A>CCA388021360ATP7Bc.*1549T>G (n.*1549T>G)
c.*2643T>G (n.*2643T>G)
c.3278T>G (p.Ile1093Ser)
c.3899T>G (p.Ile1300Ser)
c.3566T>G (p.Ile1189Ser)
c.3647T>G (p.Ile1216Ser)
n.1140T>G
c.3665T>G (p.Ile1222Ser)
n.4038T>G
n.765T>G
c.2834T>G (p.Ile945Ser)
c.2609T>G (p.Ile870Ser)
c.3704T>G (p.Ile1235Ser)
c.1677T>G
c.*1000T>G (n.*1000T>G)
n.4643T>G
n.3244T>G
c.3755T>G (p.Ile1252Ser)
c.3803T>G (p.Ile1268Ser)
c.3863T>G (p.Ile1288Ser)
c.3413T>G (p.Ile1138Ser)
c.1715T>G (p.Ile572Ser)
c.1532T>G (p.Ile511Ser)
c.3764T>G (p.Ile1255Ser)
c.3716T>G (p.Ile1239Ser)
c.3485T>G (p.Ile1162Ser)
c.3386T>G (p.Ile1129Ser)
c.2567T>G (p.Ile856Ser)
n.4118T>G
13g.51937480A>GCA388021363ATP7Bc.*1549T>C (n.*1549T>C)
c.*2643T>C (n.*2643T>C)
c.3278T>C (p.Ile1093Thr)
c.3899T>C (p.Ile1300Thr)
c.3566T>C (p.Ile1189Thr)
c.3647T>C (p.Ile1216Thr)
n.1140T>C
c.3665T>C (p.Ile1222Thr)
n.4038T>C
n.765T>C
c.2834T>C (p.Ile945Thr)
c.2609T>C (p.Ile870Thr)
c.3704T>C (p.Ile1235Thr)
c.1677T>C
c.*1000T>C (n.*1000T>C)
n.4643T>C
n.3244T>C
c.3755T>C (p.Ile1252Thr)
c.3803T>C (p.Ile1268Thr)
c.3863T>C (p.Ile1288Thr)
c.3413T>C (p.Ile1138Thr)
c.1715T>C (p.Ile572Thr)
c.1532T>C (p.Ile511Thr)
c.3764T>C (p.Ile1255Thr)
c.3716T>C (p.Ile1239Thr)
c.3485T>C (p.Ile1162Thr)
c.3386T>C (p.Ile1129Thr)
c.2567T>C (p.Ile856Thr)
n.4118T>C
ClinVar dbSNP gnomAD v4
13g.51937480A>TCA388021365ATP7Bc.*1549T>A (n.*1549T>A)
c.*2643T>A (n.*2643T>A)
c.3278T>A (p.Ile1093Asn)
c.3899T>A (p.Ile1300Asn)
c.3566T>A (p.Ile1189Asn)
c.3647T>A (p.Ile1216Asn)
n.1140T>A
c.3665T>A (p.Ile1222Asn)
n.4038T>A
n.765T>A
c.2834T>A (p.Ile945Asn)
c.2609T>A (p.Ile870Asn)
c.3704T>A (p.Ile1235Asn)
c.1677T>A
c.*1000T>A (n.*1000T>A)
n.4643T>A
n.3244T>A
c.3755T>A (p.Ile1252Asn)
c.3803T>A (p.Ile1268Asn)
c.3863T>A (p.Ile1288Asn)
c.3413T>A (p.Ile1138Asn)
c.1715T>A (p.Ile572Asn)
c.1532T>A (p.Ile511Asn)
c.3764T>A (p.Ile1255Asn)
c.3716T>A (p.Ile1239Asn)
c.3485T>A (p.Ile1162Asn)
c.3386T>A (p.Ile1129Asn)
c.2567T>A (p.Ile856Asn)
n.4118T>A
13g.51937481T>ACA388021370ATP7Bc.*1548A>T (n.*1548A>T)
c.*2642A>T (n.*2642A>T)
c.3277A>T (p.Ile1093Phe)
c.3898A>T (p.Ile1300Phe)
c.3565A>T (p.Ile1189Phe)
c.3646A>T (p.Ile1216Phe)
n.1139A>T
c.3664A>T (p.Ile1222Phe)
n.4037A>T
n.764A>T
c.2833A>T (p.Ile945Phe)
c.2608A>T (p.Ile870Phe)
c.3703A>T (p.Ile1235Phe)
c.1676A>T
c.*999A>T (n.*999A>T)
n.4642A>T
n.3243A>T
c.3754A>T (p.Ile1252Phe)
c.3802A>T (p.Ile1268Phe)
c.3862A>T (p.Ile1288Phe)
c.3412A>T (p.Ile1138Phe)
c.1714A>T (p.Ile572Phe)
c.1531A>T (p.Ile511Phe)
c.3763A>T (p.Ile1255Phe)
c.3715A>T (p.Ile1239Phe)
c.3484A>T (p.Ile1162Phe)
c.3385A>T (p.Ile1129Phe)
c.2566A>T (p.Ile856Phe)
n.4117A>T
13g.51937481T>CCA388021368ATP7Bc.*1548A>G (n.*1548A>G)
c.*2642A>G (n.*2642A>G)
c.3277A>G (p.Ile1093Val)
c.3898A>G (p.Ile1300Val)
c.3565A>G (p.Ile1189Val)
c.3646A>G (p.Ile1216Val)
n.1139A>G
c.3664A>G (p.Ile1222Val)
n.4037A>G
n.764A>G
c.2833A>G (p.Ile945Val)
c.2608A>G (p.Ile870Val)
c.3703A>G (p.Ile1235Val)
c.1676A>G
c.*999A>G (n.*999A>G)
n.4642A>G
n.3243A>G
c.3754A>G (p.Ile1252Val)
c.3802A>G (p.Ile1268Val)
c.3862A>G (p.Ile1288Val)
c.3412A>G (p.Ile1138Val)
c.1714A>G (p.Ile572Val)
c.1531A>G (p.Ile511Val)
c.3763A>G (p.Ile1255Val)
c.3715A>G (p.Ile1239Val)
c.3484A>G (p.Ile1162Val)
c.3385A>G (p.Ile1129Val)
c.2566A>G (p.Ile856Val)
n.4117A>G
13g.51937481T>GCA388021367ATP7Bc.*1548A>C (n.*1548A>C)
c.*2642A>C (n.*2642A>C)
c.3277A>C (p.Ile1093Leu)
c.3898A>C (p.Ile1300Leu)
c.3565A>C (p.Ile1189Leu)
c.3646A>C (p.Ile1216Leu)
n.1139A>C
c.3664A>C (p.Ile1222Leu)
n.4037A>C
n.764A>C
c.2833A>C (p.Ile945Leu)
c.2608A>C (p.Ile870Leu)
c.3703A>C (p.Ile1235Leu)
c.1676A>C
c.*999A>C (n.*999A>C)
n.4642A>C
n.3243A>C
c.3754A>C (p.Ile1252Leu)
c.3802A>C (p.Ile1268Leu)
c.3862A>C (p.Ile1288Leu)
c.3412A>C (p.Ile1138Leu)
c.1714A>C (p.Ile572Leu)
c.1531A>C (p.Ile511Leu)
c.3763A>C (p.Ile1255Leu)
c.3715A>C (p.Ile1239Leu)
c.3484A>C (p.Ile1162Leu)
c.3385A>C (p.Ile1129Leu)
c.2566A>C (p.Ile856Leu)
n.4117A>C
13g.51937482A>CCA484024271ATP7Bc.*1547T>G (n.*1547T>G)
c.*2641T>G (n.*2641T>G)
c.3276T>G (p.Leu1092=)
c.3897T>G (p.Leu1299=)
c.3564T>G (p.Leu1188=)
c.3645T>G (p.Leu1215=)
n.1138T>G
c.3663T>G (p.Leu1221=)
n.4036T>G
n.763T>G
c.2832T>G (p.Leu944=)
c.2607T>G (p.Leu869=)
c.3702T>G (p.Leu1234=)
c.1675T>G
c.*998T>G (n.*998T>G)
n.4641T>G
n.3242T>G
c.3753T>G (p.Leu1251=)
c.3801T>G (p.Leu1267=)
c.3861T>G (p.Leu1287=)
c.3411T>G (p.Leu1137=)
c.1713T>G (p.Leu571=)
c.1530T>G (p.Leu510=)
c.3762T>G (p.Leu1254=)
c.3714T>G (p.Leu1238=)
c.3483T>G (p.Leu1161=)
c.3384T>G (p.Leu1128=)
c.2565T>G (p.Leu855=)
n.4116T>G
13g.51937482A>GCA484024273ATP7Bc.*1547T>C (n.*1547T>C)
c.*2641T>C (n.*2641T>C)
c.3276T>C (p.Leu1092=)
c.3897T>C (p.Leu1299=)
c.3564T>C (p.Leu1188=)
c.3645T>C (p.Leu1215=)
n.1138T>C
c.3663T>C (p.Leu1221=)
n.4036T>C
n.763T>C
c.2832T>C (p.Leu944=)
c.2607T>C (p.Leu869=)
c.3702T>C (p.Leu1234=)
c.1675T>C
c.*998T>C (n.*998T>C)
n.4641T>C
n.3242T>C
c.3753T>C (p.Leu1251=)
c.3801T>C (p.Leu1267=)
c.3861T>C (p.Leu1287=)
c.3411T>C (p.Leu1137=)
c.1713T>C (p.Leu571=)
c.1530T>C (p.Leu510=)
c.3762T>C (p.Leu1254=)
c.3714T>C (p.Leu1238=)
c.3483T>C (p.Leu1161=)
c.3384T>C (p.Leu1128=)
c.2565T>C (p.Leu855=)
n.4116T>C
13g.51937482A>TCA484024272ATP7Bc.*1547T>A (n.*1547T>A)
c.*2641T>A (n.*2641T>A)
c.3276T>A (p.Leu1092=)
c.3897T>A (p.Leu1299=)
c.3564T>A (p.Leu1188=)
c.3645T>A (p.Leu1215=)
n.1138T>A
c.3663T>A (p.Leu1221=)
n.4036T>A
n.763T>A
c.2832T>A (p.Leu944=)
c.2607T>A (p.Leu869=)
c.3702T>A (p.Leu1234=)
c.1675T>A
c.*998T>A (n.*998T>A)
n.4641T>A
n.3242T>A
c.3753T>A (p.Leu1251=)
c.3801T>A (p.Leu1267=)
c.3861T>A (p.Leu1287=)
c.3411T>A (p.Leu1137=)
c.1713T>A (p.Leu571=)
c.1530T>A (p.Leu510=)
c.3762T>A (p.Leu1254=)
c.3714T>A (p.Leu1238=)
c.3483T>A (p.Leu1161=)
c.3384T>A (p.Leu1128=)
c.2565T>A (p.Leu855=)
n.4116T>A
13g.51937483A>CCA388021372ATP7Bc.*1546T>G (n.*1546T>G)
c.*2640T>G (n.*2640T>G)
c.3275T>G (p.Leu1092Arg)
c.3896T>G (p.Leu1299Arg)
c.3563T>G (p.Leu1188Arg)
c.3644T>G (p.Leu1215Arg)
n.1137T>G
c.3662T>G (p.Leu1221Arg)
n.4035T>G
n.762T>G
c.2831T>G (p.Leu944Arg)
c.2606T>G (p.Leu869Arg)
c.3701T>G (p.Leu1234Arg)
c.1674T>G
c.*997T>G (n.*997T>G)
n.4640T>G
n.3241T>G
c.3752T>G (p.Leu1251Arg)
c.3800T>G (p.Leu1267Arg)
c.3860T>G (p.Leu1287Arg)
c.3410T>G (p.Leu1137Arg)
c.1712T>G (p.Leu571Arg)
c.1529T>G (p.Leu510Arg)
c.3761T>G (p.Leu1254Arg)
c.3713T>G (p.Leu1238Arg)
c.3482T>G (p.Leu1161Arg)
c.3383T>G (p.Leu1128Arg)
c.2564T>G (p.Leu855Arg)
n.4115T>G
13g.51937483A>GCA388021377ATP7Bc.*1546T>C (n.*1546T>C)
c.*2640T>C (n.*2640T>C)
c.3275T>C (p.Leu1092Pro)
c.3896T>C (p.Leu1299Pro)
c.3563T>C (p.Leu1188Pro)
c.3644T>C (p.Leu1215Pro)
n.1137T>C
c.3662T>C (p.Leu1221Pro)
n.4035T>C
n.762T>C
c.2831T>C (p.Leu944Pro)
c.2606T>C (p.Leu869Pro)
c.3701T>C (p.Leu1234Pro)
c.1674T>C
c.*997T>C (n.*997T>C)
n.4640T>C
n.3241T>C
c.3752T>C (p.Leu1251Pro)
c.3800T>C (p.Leu1267Pro)
c.3860T>C (p.Leu1287Pro)
c.3410T>C (p.Leu1137Pro)
c.1712T>C (p.Leu571Pro)
c.1529T>C (p.Leu510Pro)
c.3761T>C (p.Leu1254Pro)
c.3713T>C (p.Leu1238Pro)
c.3482T>C (p.Leu1161Pro)
c.3383T>C (p.Leu1128Pro)
c.2564T>C (p.Leu855Pro)
n.4115T>C
13g.51937483A>TCA388021374ATP7Bc.*1546T>A (n.*1546T>A)
c.*2640T>A (n.*2640T>A)
c.3275T>A (p.Leu1092His)
c.3896T>A (p.Leu1299His)
c.3563T>A (p.Leu1188His)
c.3644T>A (p.Leu1215His)
n.1137T>A
c.3662T>A (p.Leu1221His)
n.4035T>A
n.762T>A
c.2831T>A (p.Leu944His)
c.2606T>A (p.Leu869His)
c.3701T>A (p.Leu1234His)
c.1674T>A
c.*997T>A (n.*997T>A)
n.4640T>A
n.3241T>A
c.3752T>A (p.Leu1251His)
c.3800T>A (p.Leu1267His)
c.3860T>A (p.Leu1287His)
c.3410T>A (p.Leu1137His)
c.1712T>A (p.Leu571His)
c.1529T>A (p.Leu510His)
c.3761T>A (p.Leu1254His)
c.3713T>A (p.Leu1238His)
c.3482T>A (p.Leu1161His)
c.3383T>A (p.Leu1128His)
c.2564T>A (p.Leu855His)
n.4115T>A
13g.51937483_51937484delinsAGCA2091553672ATP7Bc.*1545_*1546delinsCT (n.*1545_*1546delinsCT)
c.*2639_*2640delinsCT (n.*2639_*2640delinsCT)
c.3274_3275delinsCT (p.Leu1092=)
c.3895_3896delinsCT (p.Leu1299=)
c.3562_3563delinsCT (p.Leu1188=)
c.3643_3644delinsCT (p.Leu1215=)
n.1136_1137delinsCT
c.3661_3662delinsCT (p.Leu1221=)
n.4034_4035delinsCT
n.761_762delinsCT
c.2830_2831delinsCT (p.Leu944=)
c.2605_2606delinsCT (p.Leu869=)
c.3700_3701delinsCT (p.Leu1234=)
c.1673_1674delinsCT
c.*996_*997delinsCT (n.*996_*997delinsCT)
n.4639_4640delinsCT
n.3240_3241delinsCT
c.3751_3752delinsCT (p.Leu1251=)
c.3799_3800delinsCT (p.Leu1267=)
c.3859_3860delinsCT (p.Leu1287=)
c.3409_3410delinsCT (p.Leu1137=)
c.1711_1712delinsCT (p.Leu571=)
c.1528_1529delinsCT (p.Leu510=)
c.3760_3761delinsCT (p.Leu1254=)
c.3712_3713delinsCT (p.Leu1238=)
c.3481_3482delinsCT (p.Leu1161=)
c.3382_3383delinsCT (p.Leu1128=)
c.2563_2564delinsCT (p.Leu855=)
n.4114_4115delinsCT
13g.51937484G>ACA274423ATP7Bc.*1545C>T (n.*1545C>T)
c.*2639C>T (n.*2639C>T)
c.3274C>T (p.Leu1092Phe)
c.3895C>T (p.Leu1299Phe)
c.3562C>T (p.Leu1188Phe)
c.3643C>T (p.Leu1215Phe)
n.1136C>T
c.3661C>T (p.Leu1221Phe)
n.4034C>T
n.761C>T
c.2830C>T (p.Leu944Phe)
c.2605C>T (p.Leu869Phe)
c.3700C>T (p.Leu1234Phe)
c.1673C>T
c.*996C>T (n.*996C>T)
n.4639C>T
n.3240C>T
c.3751C>T (p.Leu1251Phe)
c.3799C>T (p.Leu1267Phe)
c.3859C>T (p.Leu1287Phe)
c.3409C>T (p.Leu1137Phe)
c.1711C>T (p.Leu571Phe)
c.1528C>T (p.Leu510Phe)
c.3760C>T (p.Leu1254Phe)
c.3712C>T (p.Leu1238Phe)
c.3481C>T (p.Leu1161Phe)
c.3382C>T (p.Leu1128Phe)
c.2563C>T (p.Leu855Phe)
n.4114C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51937484G>CCA388021381ATP7Bc.*1545C>G (n.*1545C>G)
c.*2639C>G (n.*2639C>G)
c.3274C>G (p.Leu1092Val)
c.3895C>G (p.Leu1299Val)
c.3562C>G (p.Leu1188Val)
c.3643C>G (p.Leu1215Val)
n.1136C>G
c.3661C>G (p.Leu1221Val)
n.4034C>G
n.761C>G
c.2830C>G (p.Leu944Val)
c.2605C>G (p.Leu869Val)
c.3700C>G (p.Leu1234Val)
c.1673C>G
c.*996C>G (n.*996C>G)
n.4639C>G
n.3240C>G
c.3751C>G (p.Leu1251Val)
c.3799C>G (p.Leu1267Val)
c.3859C>G (p.Leu1287Val)
c.3409C>G (p.Leu1137Val)
c.1711C>G (p.Leu571Val)
c.1528C>G (p.Leu510Val)
c.3760C>G (p.Leu1254Val)
c.3712C>G (p.Leu1238Val)
c.3481C>G (p.Leu1161Val)
c.3382C>G (p.Leu1128Val)
c.2563C>G (p.Leu855Val)
n.4114C>G
dbSNP gnomAD v2 gnomAD v4
13g.51937484G=CA2091553679ATP7Bc.*1545C= (n.*1545C=)
c.*2639C= (n.*2639C=)
c.3274C= (p.Leu1092=)
c.3895C= (p.Leu1299=)
c.3562C= (p.Leu1188=)
c.3643C= (p.Leu1215=)
n.1136C=
c.3661C= (p.Leu1221=)
n.4034C=
n.761C=
c.2830C= (p.Leu944=)
c.2605C= (p.Leu869=)
c.3700C= (p.Leu1234=)
c.1673C=
c.*996C= (n.*996C=)
n.4639C=
n.3240C=
c.3751C= (p.Leu1251=)
c.3799C= (p.Leu1267=)
c.3859C= (p.Leu1287=)
c.3409C= (p.Leu1137=)
c.1711C= (p.Leu571=)
c.1528C= (p.Leu510=)
c.3760C= (p.Leu1254=)
c.3712C= (p.Leu1238=)
c.3481C= (p.Leu1161=)
c.3382C= (p.Leu1128=)
c.2563C= (p.Leu855=)
n.4114C=
13g.51937484G>TCA388021383ATP7Bc.*1545C>A (n.*1545C>A)
c.*2639C>A (n.*2639C>A)
c.3274C>A (p.Leu1092Ile)
c.3895C>A (p.Leu1299Ile)
c.3562C>A (p.Leu1188Ile)
c.3643C>A (p.Leu1215Ile)
n.1136C>A
c.3661C>A (p.Leu1221Ile)
n.4034C>A
n.761C>A
c.2830C>A (p.Leu944Ile)
c.2605C>A (p.Leu869Ile)
c.3700C>A (p.Leu1234Ile)
c.1673C>A
c.*996C>A (n.*996C>A)
n.4639C>A
n.3240C>A
c.3751C>A (p.Leu1251Ile)
c.3799C>A (p.Leu1267Ile)
c.3859C>A (p.Leu1287Ile)
c.3409C>A (p.Leu1137Ile)
c.1711C>A (p.Leu571Ile)
c.1528C>A (p.Leu510Ile)
c.3760C>A (p.Leu1254Ile)
c.3712C>A (p.Leu1238Ile)
c.3481C>A (p.Leu1161Ile)
c.3382C>A (p.Leu1128Ile)
c.2563C>A (p.Leu855Ile)
n.4114C>A
13g.51937485delCA1139663297ATP7Bc.*1545del (n.*1545del)
c.*2639del (n.*2639del)
c.3274del (p.Ile1093SerfsTer?)
c.3895del (p.Ile1300SerfsTer?)
c.3562del (p.Ile1189SerfsTer?)
c.3643del (p.Ile1216SerfsTer?)
n.1136del
c.3661del (p.Ile1222SerfsTer?)
n.4034del
n.761del
c.2830del (p.Ile945SerfsTer?)
c.2605del (p.Ile870SerfsTer?)
c.3700del (p.Ile1235SerfsTer?)
c.1673del
c.*996del (n.*996del)
n.4639del
n.3240del
c.3751del (p.Ile1252SerfsTer?)
c.3799del (p.Ile1268SerfsTer?)
c.3859del (p.Ile1288SerfsTer?)
c.3409del (p.Ile1138SerfsTer?)
c.1711del (p.Ile572SerfsTer?)
c.1528del (p.Ile511SerfsTer?)
c.3760del (p.Ile1255SerfsTer?)
c.3712del (p.Ile1239SerfsTer?)
c.3481del (p.Ile1162SerfsTer?)
c.3382del (p.Ile1129SerfsTer?)
c.2563del (p.Ile856SerfsTer?)
n.4114del
ClinVar dbSNP
13g.51937485G>ACA6988548ATP7Bc.*1544C>T (n.*1544C>T)
c.*2638C>T (n.*2638C>T)
c.3273C>T (p.Val1091=)
c.3894C>T (p.Val1298=)
c.3561C>T (p.Val1187=)
c.3642C>T (p.Val1214=)
n.1135C>T
c.3660C>T (p.Val1220=)
n.4033C>T
n.760C>T
c.2829C>T (p.Val943=)
c.2604C>T (p.Val868=)
c.3699C>T (p.Val1233=)
c.1672C>T
c.*995C>T (n.*995C>T)
n.4638C>T
n.3239C>T
c.3750C>T (p.Val1250=)
c.3798C>T (p.Val1266=)
c.3858C>T (p.Val1286=)
c.3408C>T (p.Val1136=)
c.1710C>T (p.Val570=)
c.1527C>T (p.Val509=)
c.3759C>T (p.Val1253=)
c.3711C>T (p.Val1237=)
c.3480C>T (p.Val1160=)
c.3381C>T (p.Val1127=)
c.2562C>T (p.Val854=)
n.4113C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937485G>CCA484024274ATP7Bc.*1544C>G (n.*1544C>G)
c.*2638C>G (n.*2638C>G)
c.3273C>G (p.Val1091=)
c.3894C>G (p.Val1298=)
c.3561C>G (p.Val1187=)
c.3642C>G (p.Val1214=)
n.1135C>G
c.3660C>G (p.Val1220=)
n.4033C>G
n.760C>G
c.2829C>G (p.Val943=)
c.2604C>G (p.Val868=)
c.3699C>G (p.Val1233=)
c.1672C>G
c.*995C>G (n.*995C>G)
n.4638C>G
n.3239C>G
c.3750C>G (p.Val1250=)
c.3798C>G (p.Val1266=)
c.3858C>G (p.Val1286=)
c.3408C>G (p.Val1136=)
c.1710C>G (p.Val570=)
c.1527C>G (p.Val509=)
c.3759C>G (p.Val1253=)
c.3711C>G (p.Val1237=)
c.3480C>G (p.Val1160=)
c.3381C>G (p.Val1127=)
c.2562C>G (p.Val854=)
n.4113C>G
13g.51937485G=CA2091553685ATP7Bc.*1544C= (n.*1544C=)
c.*2638C= (n.*2638C=)
c.3273C= (p.Val1091=)
c.3894C= (p.Val1298=)
c.3561C= (p.Val1187=)
c.3642C= (p.Val1214=)
n.1135C=
c.3660C= (p.Val1220=)
n.4033C=
n.760C=
c.2829C= (p.Val943=)
c.2604C= (p.Val868=)
c.3699C= (p.Val1233=)
c.1672C=
c.*995C= (n.*995C=)
n.4638C=
n.3239C=
c.3750C= (p.Val1250=)
c.3798C= (p.Val1266=)
c.3858C= (p.Val1286=)
c.3408C= (p.Val1136=)
c.1710C= (p.Val570=)
c.1527C= (p.Val509=)
c.3759C= (p.Val1253=)
c.3711C= (p.Val1237=)
c.3480C= (p.Val1160=)
c.3381C= (p.Val1127=)
c.2562C= (p.Val854=)
n.4113C=
13g.51937485G>TCA484024275ATP7Bc.*1544C>A (n.*1544C>A)
c.*2638C>A (n.*2638C>A)
c.3273C>A (p.Val1091=)
c.3894C>A (p.Val1298=)
c.3561C>A (p.Val1187=)
c.3642C>A (p.Val1214=)
n.1135C>A
c.3660C>A (p.Val1220=)
n.4033C>A
n.760C>A
c.2829C>A (p.Val943=)
c.2604C>A (p.Val868=)
c.3699C>A (p.Val1233=)
c.1672C>A
c.*995C>A (n.*995C>A)
n.4638C>A
n.3239C>A
c.3750C>A (p.Val1250=)
c.3798C>A (p.Val1266=)
c.3858C>A (p.Val1286=)
c.3408C>A (p.Val1136=)
c.1710C>A (p.Val570=)
c.1527C>A (p.Val509=)
c.3759C>A (p.Val1253=)
c.3711C>A (p.Val1237=)
c.3480C>A (p.Val1160=)
c.3381C>A (p.Val1127=)
c.2562C>A (p.Val854=)
n.4113C>A
13g.51937489_51937491delCA2580614733ATP7Bc.*1542_*1544del (n.*1542_*1544del)
c.*2636_*2638del (n.*2636_*2638del)
c.3271_3273del (p.Val1091del)
c.3892_3894del (p.Val1298del)
c.3559_3561del (p.Val1187del)
c.3640_3642del (p.Val1214del)
n.1133_1135del
c.3658_3660del (p.Val1220del)
n.4031_4033del
n.758_760del
c.2827_2829del (p.Val943del)
c.2602_2604del (p.Val868del)
c.3697_3699del (p.Val1233del)
c.1670_1672del
c.*993_*995del (n.*993_*995del)
n.4636_4638del
n.3237_3239del
c.3748_3750del (p.Val1250del)
c.3796_3798del (p.Val1266del)
c.3856_3858del (p.Val1286del)
c.3406_3408del (p.Val1136del)
c.1708_1710del (p.Val570del)
c.1525_1527del (p.Val509del)
c.3757_3759del (p.Val1253del)
c.3709_3711del (p.Val1237del)
c.3478_3480del (p.Val1160del)
c.3379_3381del (p.Val1127del)
c.2560_2562del (p.Val854del)
n.4111_4113del
dbSNP gnomAD v4
13g.51937486A>CCA388021388ATP7Bc.*1543T>G (n.*1543T>G)
c.*2637T>G (n.*2637T>G)
c.3272T>G (p.Val1091Gly)
c.3893T>G (p.Val1298Gly)
c.3560T>G (p.Val1187Gly)
c.3641T>G (p.Val1214Gly)
n.1134T>G
c.3659T>G (p.Val1220Gly)
n.4032T>G
n.759T>G
c.2828T>G (p.Val943Gly)
c.2603T>G (p.Val868Gly)
c.3698T>G (p.Val1233Gly)
c.1671T>G
c.*994T>G (n.*994T>G)
n.4637T>G
n.3238T>G
c.3749T>G (p.Val1250Gly)
c.3797T>G (p.Val1266Gly)
c.3857T>G (p.Val1286Gly)
c.3407T>G (p.Val1136Gly)
c.1709T>G (p.Val570Gly)
c.1526T>G (p.Val509Gly)
c.3758T>G (p.Val1253Gly)
c.3710T>G (p.Val1237Gly)
c.3479T>G (p.Val1160Gly)
c.3380T>G (p.Val1127Gly)
c.2561T>G (p.Val854Gly)
n.4112T>G
13g.51937486A>GCA388021390ATP7Bc.*1543T>C (n.*1543T>C)
c.*2637T>C (n.*2637T>C)
c.3272T>C (p.Val1091Ala)
c.3893T>C (p.Val1298Ala)
c.3560T>C (p.Val1187Ala)
c.3641T>C (p.Val1214Ala)
n.1134T>C
c.3659T>C (p.Val1220Ala)
n.4032T>C
n.759T>C
c.2828T>C (p.Val943Ala)
c.2603T>C (p.Val868Ala)
c.3698T>C (p.Val1233Ala)
c.1671T>C
c.*994T>C (n.*994T>C)
n.4637T>C
n.3238T>C
c.3749T>C (p.Val1250Ala)
c.3797T>C (p.Val1266Ala)
c.3857T>C (p.Val1286Ala)
c.3407T>C (p.Val1136Ala)
c.1709T>C (p.Val570Ala)
c.1526T>C (p.Val509Ala)
c.3758T>C (p.Val1253Ala)
c.3710T>C (p.Val1237Ala)
c.3479T>C (p.Val1160Ala)
c.3380T>C (p.Val1127Ala)
c.2561T>C (p.Val854Ala)
n.4112T>C
13g.51937486A>TCA388021392ATP7Bc.*1543T>A (n.*1543T>A)
c.*2637T>A (n.*2637T>A)
c.3272T>A (p.Val1091Asp)
c.3893T>A (p.Val1298Asp)
c.3560T>A (p.Val1187Asp)
c.3641T>A (p.Val1214Asp)
n.1134T>A
c.3659T>A (p.Val1220Asp)
n.4032T>A
n.759T>A
c.2828T>A (p.Val943Asp)
c.2603T>A (p.Val868Asp)
c.3698T>A (p.Val1233Asp)
c.1671T>A
c.*994T>A (n.*994T>A)
n.4637T>A
n.3238T>A
c.3749T>A (p.Val1250Asp)
c.3797T>A (p.Val1266Asp)
c.3857T>A (p.Val1286Asp)
c.3407T>A (p.Val1136Asp)
c.1709T>A (p.Val570Asp)
c.1526T>A (p.Val509Asp)
c.3758T>A (p.Val1253Asp)
c.3710T>A (p.Val1237Asp)
c.3479T>A (p.Val1160Asp)
c.3380T>A (p.Val1127Asp)
c.2561T>A (p.Val854Asp)
n.4112T>A
13g.51937487C>ACA388021395ATP7Bc.*1542G>T (n.*1542G>T)
c.*2636G>T (n.*2636G>T)
c.3271G>T (p.Val1091Phe)
c.3892G>T (p.Val1298Phe)
c.3559G>T (p.Val1187Phe)
c.3640G>T (p.Val1214Phe)
n.1133G>T
c.3658G>T (p.Val1220Phe)
n.4031G>T
n.758G>T
c.2827G>T (p.Val943Phe)
c.2602G>T (p.Val868Phe)
c.3697G>T (p.Val1233Phe)
c.1670G>T
c.*993G>T (n.*993G>T)
n.4636G>T
n.3237G>T
c.3748G>T (p.Val1250Phe)
c.3796G>T (p.Val1266Phe)
c.3856G>T (p.Val1286Phe)
c.3406G>T (p.Val1136Phe)
c.1708G>T (p.Val570Phe)
c.1525G>T (p.Val509Phe)
c.3757G>T (p.Val1253Phe)
c.3709G>T (p.Val1237Phe)
c.3478G>T (p.Val1160Phe)
c.3379G>T (p.Val1127Phe)
c.2560G>T (p.Val854Phe)
n.4111G>T
13g.51937487C=CA2091553693ATP7Bc.*1542G= (n.*1542G=)
c.*2636G= (n.*2636G=)
c.3271G= (p.Val1091=)
c.3892G= (p.Val1298=)
c.3559G= (p.Val1187=)
c.3640G= (p.Val1214=)
n.1133G=
c.3658G= (p.Val1220=)
n.4031G=
n.758G=
c.2827G= (p.Val943=)
c.2602G= (p.Val868=)
c.3697G= (p.Val1233=)
c.1670G=
c.*993G= (n.*993G=)
n.4636G=
n.3237G=
c.3748G= (p.Val1250=)
c.3796G= (p.Val1266=)
c.3856G= (p.Val1286=)
c.3406G= (p.Val1136=)
c.1708G= (p.Val570=)
c.1525G= (p.Val509=)
c.3757G= (p.Val1253=)
c.3709G= (p.Val1237=)
c.3478G= (p.Val1160=)
c.3379G= (p.Val1127=)
c.2560G= (p.Val854=)
n.4111G=
13g.51937487C>GCA388021398ATP7Bc.*1542G>C (n.*1542G>C)
c.*2636G>C (n.*2636G>C)
c.3271G>C (p.Val1091Leu)
c.3892G>C (p.Val1298Leu)
c.3559G>C (p.Val1187Leu)
c.3640G>C (p.Val1214Leu)
n.1133G>C
c.3658G>C (p.Val1220Leu)
n.4031G>C
n.758G>C
c.2827G>C (p.Val943Leu)
c.2602G>C (p.Val868Leu)
c.3697G>C (p.Val1233Leu)
c.1670G>C
c.*993G>C (n.*993G>C)
n.4636G>C
n.3237G>C
c.3748G>C (p.Val1250Leu)
c.3796G>C (p.Val1266Leu)
c.3856G>C (p.Val1286Leu)
c.3406G>C (p.Val1136Leu)
c.1708G>C (p.Val570Leu)
c.1525G>C (p.Val509Leu)
c.3757G>C (p.Val1253Leu)
c.3709G>C (p.Val1237Leu)
c.3478G>C (p.Val1160Leu)
c.3379G>C (p.Val1127Leu)
c.2560G>C (p.Val854Leu)
n.4111G>C
gnomAD v4
13g.51937487C>TCA250073505ATP7Bc.*1542G>A (n.*1542G>A)
c.*2636G>A (n.*2636G>A)
c.3271G>A (p.Val1091Ile)
c.3892G>A (p.Val1298Ile)
c.3559G>A (p.Val1187Ile)
c.3640G>A (p.Val1214Ile)
n.1133G>A
c.3658G>A (p.Val1220Ile)
n.4031G>A
n.758G>A
c.2827G>A (p.Val943Ile)
c.2602G>A (p.Val868Ile)
c.3697G>A (p.Val1233Ile)
c.1670G>A
c.*993G>A (n.*993G>A)
n.4636G>A
n.3237G>A
c.3748G>A (p.Val1250Ile)
c.3796G>A (p.Val1266Ile)
c.3856G>A (p.Val1286Ile)
c.3406G>A (p.Val1136Ile)
c.1708G>A (p.Val570Ile)
c.1525G>A (p.Val509Ile)
c.3757G>A (p.Val1253Ile)
c.3709G>A (p.Val1237Ile)
c.3478G>A (p.Val1160Ile)
c.3379G>A (p.Val1127Ile)
c.2560G>A (p.Val854Ile)
n.4111G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51937487_51937496delinsTGCA2695218744ATP7Bc.*1533_*1542delinsCA (n.*1533_*1542delinsCA)
c.*2627_*2636delinsCA (n.*2627_*2636delinsCA)
c.3262_3271delinsCA (p.Ala1088HisfsTer6)
c.3883_3892delinsCA (p.Ala1295HisfsTer6)
c.3550_3559delinsCA (p.Ala1184HisfsTer6)
c.3631_3640delinsCA (p.Ala1211HisfsTer6)
n.1124_1133delinsCA
c.3649_3658delinsCA (p.Ala1217HisfsTer6)
n.4022_4031delinsCA
n.749_758delinsCA
c.2818_2827delinsCA (p.Ala940HisfsTer6)
c.2593_2602delinsCA (p.Ala865HisfsTer6)
c.3688_3697delinsCA (p.Ala1230HisfsTer6)
c.1661_1670delinsCA
c.*984_*993delinsCA (n.*984_*993delinsCA)
n.4627_4636delinsCA
n.3228_3237delinsCA
c.3739_3748delinsCA (p.Ala1247HisfsTer6)
c.3787_3796delinsCA (p.Ala1263HisfsTer6)
c.3847_3856delinsCA (p.Ala1283HisfsTer6)
c.3397_3406delinsCA (p.Ala1133HisfsTer6)
c.1699_1708delinsCA (p.Ala567HisfsTer6)
c.1516_1525delinsCA (p.Ala506HisfsTer6)
c.3748_3757delinsCA (p.Ala1250HisfsTer6)
c.3700_3709delinsCA (p.Ala1234HisfsTer6)
c.3469_3478delinsCA (p.Ala1157HisfsTer6)
c.3370_3379delinsCA (p.Ala1124HisfsTer6)
c.2551_2560delinsCA (p.Ala851HisfsTer6)
n.4102_4111delinsCA
13g.51937488G>ACA171324ATP7Bc.*1541C>T (n.*1541C>T)
c.*2635C>T (n.*2635C>T)
c.3270C>T (p.Val1090=)
c.3891C>T (p.Val1297=)
c.3558C>T (p.Val1186=)
c.3639C>T (p.Val1213=)
n.1132C>T
c.3657C>T (p.Val1219=)
n.4030C>T
n.757C>T
c.2826C>T (p.Val942=)
c.2601C>T (p.Val867=)
c.3696C>T (p.Val1232=)
c.1669C>T
c.*992C>T (n.*992C>T)
n.4635C>T
n.3236C>T
c.3747C>T (p.Val1249=)
c.3795C>T (p.Val1265=)
c.3855C>T (p.Val1285=)
c.3405C>T (p.Val1135=)
c.1707C>T (p.Val569=)
c.1524C>T (p.Val508=)
c.3756C>T (p.Val1252=)
c.3708C>T (p.Val1236=)
c.3477C>T (p.Val1159=)
c.3378C>T (p.Val1126=)
c.2559C>T (p.Val853=)
n.4110C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937488G>CCA484024277ATP7Bc.*1541C>G (n.*1541C>G)
c.*2635C>G (n.*2635C>G)
c.3270C>G (p.Val1090=)
c.3891C>G (p.Val1297=)
c.3558C>G (p.Val1186=)
c.3639C>G (p.Val1213=)
n.1132C>G
c.3657C>G (p.Val1219=)
n.4030C>G
n.757C>G
c.2826C>G (p.Val942=)
c.2601C>G (p.Val867=)
c.3696C>G (p.Val1232=)
c.1669C>G
c.*992C>G (n.*992C>G)
n.4635C>G
n.3236C>G
c.3747C>G (p.Val1249=)
c.3795C>G (p.Val1265=)
c.3855C>G (p.Val1285=)
c.3405C>G (p.Val1135=)
c.1707C>G (p.Val569=)
c.1524C>G (p.Val508=)
c.3756C>G (p.Val1252=)
c.3708C>G (p.Val1236=)
c.3477C>G (p.Val1159=)
c.3378C>G (p.Val1126=)
c.2559C>G (p.Val853=)
n.4110C>G
dbSNP
13g.51937488G=CA2091553710ATP7Bc.*1541C= (n.*1541C=)
c.*2635C= (n.*2635C=)
c.3270C= (p.Val1090=)
c.3891C= (p.Val1297=)
c.3558C= (p.Val1186=)
c.3639C= (p.Val1213=)
n.1132C=
c.3657C= (p.Val1219=)
n.4030C=
n.757C=
c.2826C= (p.Val942=)
c.2601C= (p.Val867=)
c.3696C= (p.Val1232=)
c.1669C=
c.*992C= (n.*992C=)
n.4635C=
n.3236C=
c.3747C= (p.Val1249=)
c.3795C= (p.Val1265=)
c.3855C= (p.Val1285=)
c.3405C= (p.Val1135=)
c.1707C= (p.Val569=)
c.1524C= (p.Val508=)
c.3756C= (p.Val1252=)
c.3708C= (p.Val1236=)
c.3477C= (p.Val1159=)
c.3378C= (p.Val1126=)
c.2559C= (p.Val853=)
n.4110C=
13g.51937488G>TCA484024276ATP7Bc.*1541C>A (n.*1541C>A)
c.*2635C>A (n.*2635C>A)
c.3270C>A (p.Val1090=)
c.3891C>A (p.Val1297=)
c.3558C>A (p.Val1186=)
c.3639C>A (p.Val1213=)
n.1132C>A
c.3657C>A (p.Val1219=)
n.4030C>A
n.757C>A
c.2826C>A (p.Val942=)
c.2601C>A (p.Val867=)
c.3696C>A (p.Val1232=)
c.1669C>A
c.*992C>A (n.*992C>A)
n.4635C>A
n.3236C>A
c.3747C>A (p.Val1249=)
c.3795C>A (p.Val1265=)
c.3855C>A (p.Val1285=)
c.3405C>A (p.Val1135=)
c.1707C>A (p.Val569=)
c.1524C>A (p.Val508=)
c.3756C>A (p.Val1252=)
c.3708C>A (p.Val1236=)
c.3477C>A (p.Val1159=)
c.3378C>A (p.Val1126=)
c.2559C>A (p.Val853=)
n.4110C>A
13g.51937489A>CCA388021408ATP7Bc.*1540T>G (n.*1540T>G)
c.*2634T>G (n.*2634T>G)
c.3269T>G (p.Val1090Gly)
c.3890T>G (p.Val1297Gly)
c.3557T>G (p.Val1186Gly)
c.3638T>G (p.Val1213Gly)
n.1131T>G
c.3656T>G (p.Val1219Gly)
n.4029T>G
n.756T>G
c.2825T>G (p.Val942Gly)
c.2600T>G (p.Val867Gly)
c.3695T>G (p.Val1232Gly)
c.1668T>G
c.*991T>G (n.*991T>G)
n.4634T>G
n.3235T>G
c.3746T>G (p.Val1249Gly)
c.3794T>G (p.Val1265Gly)
c.3854T>G (p.Val1285Gly)
c.3404T>G (p.Val1135Gly)
c.1706T>G (p.Val569Gly)
c.1523T>G (p.Val508Gly)
c.3755T>G (p.Val1252Gly)
c.3707T>G (p.Val1236Gly)
c.3476T>G (p.Val1159Gly)
c.3377T>G (p.Val1126Gly)
c.2558T>G (p.Val853Gly)
n.4109T>G
13g.51937489A>GCA388021406ATP7Bc.*1540T>C (n.*1540T>C)
c.*2634T>C (n.*2634T>C)
c.3269T>C (p.Val1090Ala)
c.3890T>C (p.Val1297Ala)
c.3557T>C (p.Val1186Ala)
c.3638T>C (p.Val1213Ala)
n.1131T>C
c.3656T>C (p.Val1219Ala)
n.4029T>C
n.756T>C
c.2825T>C (p.Val942Ala)
c.2600T>C (p.Val867Ala)
c.3695T>C (p.Val1232Ala)
c.1668T>C
c.*991T>C (n.*991T>C)
n.4634T>C
n.3235T>C
c.3746T>C (p.Val1249Ala)
c.3794T>C (p.Val1265Ala)
c.3854T>C (p.Val1285Ala)
c.3404T>C (p.Val1135Ala)
c.1706T>C (p.Val569Ala)
c.1523T>C (p.Val508Ala)
c.3755T>C (p.Val1252Ala)
c.3707T>C (p.Val1236Ala)
c.3476T>C (p.Val1159Ala)
c.3377T>C (p.Val1126Ala)
c.2558T>C (p.Val853Ala)
n.4109T>C
gnomAD v4
13g.51937489A>TCA388021404ATP7Bc.*1540T>A (n.*1540T>A)
c.*2634T>A (n.*2634T>A)
c.3269T>A (p.Val1090Asp)
c.3890T>A (p.Val1297Asp)
c.3557T>A (p.Val1186Asp)
c.3638T>A (p.Val1213Asp)
n.1131T>A
c.3656T>A (p.Val1219Asp)
n.4029T>A
n.756T>A
c.2825T>A (p.Val942Asp)
c.2600T>A (p.Val867Asp)
c.3695T>A (p.Val1232Asp)
c.1668T>A
c.*991T>A (n.*991T>A)
n.4634T>A
n.3235T>A
c.3746T>A (p.Val1249Asp)
c.3794T>A (p.Val1265Asp)
c.3854T>A (p.Val1285Asp)
c.3404T>A (p.Val1135Asp)
c.1706T>A (p.Val569Asp)
c.1523T>A (p.Val508Asp)
c.3755T>A (p.Val1252Asp)
c.3707T>A (p.Val1236Asp)
c.3476T>A (p.Val1159Asp)
c.3377T>A (p.Val1126Asp)
c.2558T>A (p.Val853Asp)
n.4109T>A
13g.51937489_51937496delCA2573149694ATP7Bc.*1533_*1540del (n.*1533_*1540del)
c.*2627_*2634del (n.*2627_*2634del)
c.3262_3269del (p.Ala1088ArgfsTer6)
c.3883_3890del (p.Ala1295ArgfsTer6)
c.3550_3557del (p.Ala1184ArgfsTer6)
c.3631_3638del (p.Ala1211ArgfsTer6)
n.1124_1131del
c.3649_3656del (p.Ala1217ArgfsTer6)
n.4022_4029del
n.749_756del
c.2818_2825del (p.Ala940ArgfsTer6)
c.2593_2600del (p.Ala865ArgfsTer6)
c.3688_3695del (p.Ala1230ArgfsTer6)
c.1661_1668del
c.*984_*991del (n.*984_*991del)
n.4627_4634del
n.3228_3235del
c.3739_3746del (p.Ala1247ArgfsTer6)
c.3787_3794del (p.Ala1263ArgfsTer6)
c.3847_3854del (p.Ala1283ArgfsTer6)
c.3397_3404del (p.Ala1133ArgfsTer6)
c.1699_1706del (p.Ala567ArgfsTer6)
c.1516_1523del (p.Ala506ArgfsTer6)
c.3748_3755del (p.Ala1250ArgfsTer6)
c.3700_3707del (p.Ala1234ArgfsTer6)
c.3469_3476del (p.Ala1157ArgfsTer6)
c.3370_3377del (p.Ala1124ArgfsTer6)
c.2551_2558del (p.Ala851ArgfsTer6)
n.4102_4109del
ClinVar dbSNP
13g.51937490C>ACA388021410ATP7Bc.*1539G>T (n.*1539G>T)
c.*2633G>T (n.*2633G>T)
c.3268G>T (p.Val1090Phe)
c.3889G>T (p.Val1297Phe)
c.3556G>T (p.Val1186Phe)
c.3637G>T (p.Val1213Phe)
n.1130G>T
c.3655G>T (p.Val1219Phe)
n.4028G>T
n.755G>T
c.2824G>T (p.Val942Phe)
c.2599G>T (p.Val867Phe)
c.3694G>T (p.Val1232Phe)
c.1667G>T
c.*990G>T (n.*990G>T)
n.4633G>T
n.3234G>T
c.3745G>T (p.Val1249Phe)
c.3793G>T (p.Val1265Phe)
c.3853G>T (p.Val1285Phe)
c.3403G>T (p.Val1135Phe)
c.1705G>T (p.Val569Phe)
c.1522G>T (p.Val508Phe)
c.3754G>T (p.Val1252Phe)
c.3706G>T (p.Val1236Phe)
c.3475G>T (p.Val1159Phe)
c.3376G>T (p.Val1126Phe)
c.2557G>T (p.Val853Phe)
n.4108G>T
13g.51937490C=CA2091553720ATP7Bc.*1539G= (n.*1539G=)
c.*2633G= (n.*2633G=)
c.3268G= (p.Val1090=)
c.3889G= (p.Val1297=)
c.3556G= (p.Val1186=)
c.3637G= (p.Val1213=)
n.1130G=
c.3655G= (p.Val1219=)
n.4028G=
n.755G=
c.2824G= (p.Val942=)
c.2599G= (p.Val867=)
c.3694G= (p.Val1232=)
c.1667G=
c.*990G= (n.*990G=)
n.4633G=
n.3234G=
c.3745G= (p.Val1249=)
c.3793G= (p.Val1265=)
c.3853G= (p.Val1285=)
c.3403G= (p.Val1135=)
c.1705G= (p.Val569=)
c.1522G= (p.Val508=)
c.3754G= (p.Val1252=)
c.3706G= (p.Val1236=)
c.3475G= (p.Val1159=)
c.3376G= (p.Val1126=)
c.2557G= (p.Val853=)
n.4108G=
13g.51937490C>GCA388021412ATP7Bc.*1539G>C (n.*1539G>C)
c.*2633G>C (n.*2633G>C)
c.3268G>C (p.Val1090Leu)
c.3889G>C (p.Val1297Leu)
c.3556G>C (p.Val1186Leu)
c.3637G>C (p.Val1213Leu)
n.1130G>C
c.3655G>C (p.Val1219Leu)
n.4028G>C
n.755G>C
c.2824G>C (p.Val942Leu)
c.2599G>C (p.Val867Leu)
c.3694G>C (p.Val1232Leu)
c.1667G>C
c.*990G>C (n.*990G>C)
n.4633G>C
n.3234G>C
c.3745G>C (p.Val1249Leu)
c.3793G>C (p.Val1265Leu)
c.3853G>C (p.Val1285Leu)
c.3403G>C (p.Val1135Leu)
c.1705G>C (p.Val569Leu)
c.1522G>C (p.Val508Leu)
c.3754G>C (p.Val1252Leu)
c.3706G>C (p.Val1236Leu)
c.3475G>C (p.Val1159Leu)
c.3376G>C (p.Val1126Leu)
c.2557G>C (p.Val853Leu)
n.4108G>C
13g.51937490C>TCA145689ATP7Bc.*1539G>A (n.*1539G>A)
c.*2633G>A (n.*2633G>A)
c.3268G>A (p.Val1090Ile)
c.3889G>A (p.Val1297Ile)
c.3556G>A (p.Val1186Ile)
c.3637G>A (p.Val1213Ile)
n.1130G>A
c.3655G>A (p.Val1219Ile)
n.4028G>A
n.755G>A
c.2824G>A (p.Val942Ile)
c.2599G>A (p.Val867Ile)
c.3694G>A (p.Val1232Ile)
c.1667G>A
c.*990G>A (n.*990G>A)
n.4633G>A
n.3234G>A
c.3745G>A (p.Val1249Ile)
c.3793G>A (p.Val1265Ile)
c.3853G>A (p.Val1285Ile)
c.3403G>A (p.Val1135Ile)
c.1705G>A (p.Val569Ile)
c.1522G>A (p.Val508Ile)
c.3754G>A (p.Val1252Ile)
c.3706G>A (p.Val1236Ile)
c.3475G>A (p.Val1159Ile)
c.3376G>A (p.Val1126Ile)
c.2557G>A (p.Val853Ile)
n.4108G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937491delCA2695218746ATP7Bc.*1538del (n.*1538del)
c.*2632del (n.*2632del)
c.3267del (p.Asp1089GlufsTer?)
c.3888del (p.Asp1296GlufsTer?)
c.3555del (p.Asp1185GlufsTer?)
c.3636del (p.Asp1212GlufsTer?)
n.1129del
c.3654del (p.Asp1218GlufsTer?)
n.4027del
n.754del
c.2823del (p.Asp941GlufsTer?)
c.2598del (p.Asp866GlufsTer?)
c.3693del (p.Asp1231GlufsTer?)
c.1666del
c.*989del (n.*989del)
n.4632del
n.3233del
c.3744del (p.Asp1248GlufsTer?)
c.3792del (p.Asp1264GlufsTer?)
c.3852del (p.Asp1284GlufsTer?)
c.3402del (p.Asp1134GlufsTer?)
c.1704del (p.Asp568GlufsTer?)
c.1521del (p.Asp507GlufsTer?)
c.3753del (p.Asp1251GlufsTer?)
c.3705del (p.Asp1235GlufsTer?)
c.3474del (p.Asp1158GlufsTer?)
c.3375del (p.Asp1125GlufsTer?)
c.2556del (p.Asp852GlufsTer?)
n.4107del
13g.51937491G>ACA6988549ATP7Bc.*1538C>T (n.*1538C>T)
c.*2632C>T (n.*2632C>T)
c.3267C>T (p.Asp1089=)
c.3888C>T (p.Asp1296=)
c.3555C>T (p.Asp1185=)
c.3636C>T (p.Asp1212=)
n.1129C>T
c.3654C>T (p.Asp1218=)
n.4027C>T
n.754C>T
c.2823C>T (p.Asp941=)
c.2598C>T (p.Asp866=)
c.3693C>T (p.Asp1231=)
c.1666C>T
c.*989C>T (n.*989C>T)
n.4632C>T
n.3233C>T
c.3744C>T (p.Asp1248=)
c.3792C>T (p.Asp1264=)
c.3852C>T (p.Asp1284=)
c.3402C>T (p.Asp1134=)
c.1704C>T (p.Asp568=)
c.1521C>T (p.Asp507=)
c.3753C>T (p.Asp1251=)
c.3705C>T (p.Asp1235=)
c.3474C>T (p.Asp1158=)
c.3375C>T (p.Asp1125=)
c.2556C>T (p.Asp852=)
n.4107C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937491G>CCA388021418ATP7Bc.*1538C>G (n.*1538C>G)
c.*2632C>G (n.*2632C>G)
c.3267C>G (p.Asp1089Glu)
c.3888C>G (p.Asp1296Glu)
c.3555C>G (p.Asp1185Glu)
c.3636C>G (p.Asp1212Glu)
n.1129C>G
c.3654C>G (p.Asp1218Glu)
n.4027C>G
n.754C>G
c.2823C>G (p.Asp941Glu)
c.2598C>G (p.Asp866Glu)
c.3693C>G (p.Asp1231Glu)
c.1666C>G
c.*989C>G (n.*989C>G)
n.4632C>G
n.3233C>G
c.3744C>G (p.Asp1248Glu)
c.3792C>G (p.Asp1264Glu)
c.3852C>G (p.Asp1284Glu)
c.3402C>G (p.Asp1134Glu)
c.1704C>G (p.Asp568Glu)
c.1521C>G (p.Asp507Glu)
c.3753C>G (p.Asp1251Glu)
c.3705C>G (p.Asp1235Glu)
c.3474C>G (p.Asp1158Glu)
c.3375C>G (p.Asp1125Glu)
c.2556C>G (p.Asp852Glu)
n.4107C>G

Number of alleles fetched