Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51935663_51935673delinsAGATGGGCCCATCCCA2695218725ATP7Bc.*1694_*1704delinsGGATGGGCCCATCT (n.*1694_*1704delinsGGATGGGCCCATCT)
c.*2788_*2798delinsGGATGGGCCCATCT (n.*2788_*2798delinsGGATGGGCCCATCT)
c.3423_3433delinsGGATGGGCCCATCT (p.Ile1141_Pro1145delinsMetAspGlyProIleSer)
c.4044_4054delinsGGATGGGCCCATCT (p.Ile1348_Pro1352delinsMetAspGlyProIleSer)
c.3711_3721delinsGGATGGGCCCATCT (p.Ile1237_Pro1241delinsMetAspGlyProIleSer)
c.3792_3802delinsGGATGGGCCCATCT (p.Ile1264_Pro1268delinsMetAspGlyProIleSer)
n.1367_1377delinsGGATGGGCCCATCT
c.3810_3820delinsGGATGGGCCCATCT (p.Ile1270_Pro1274delinsMetAspGlyProIleSer)
n.4183_4193delinsGGATGGGCCCATCT
n.910_920delinsGGATGGGCCCATCT
c.2979_2989delinsGGATGGGCCCATCT (p.Ile993_Pro997delinsMetAspGlyProIleSer)
c.2754_2764delinsGGATGGGCCCATCT (p.Ile918_Pro922delinsMetAspGlyProIleSer)
c.3849_3859delinsGGATGGGCCCATCT (p.Ile1283_Pro1287delinsMetAspGlyProIleSer)
c.1822_1832delinsGGATGGGCCCATCT
c.*1145_*1155delinsGGATGGGCCCATCT (n.*1145_*1155delinsGGATGGGCCCATCT)
n.4788_4798delinsGGATGGGCCCATCT
n.3389_3399delinsGGATGGGCCCATCT
c.3900_3910delinsGGATGGGCCCATCT (p.Ile1300_Pro1304delinsMetAspGlyProIleSer)
c.3948_3958delinsGGATGGGCCCATCT (p.Ile1316_Pro1320delinsMetAspGlyProIleSer)
c.4008_4018delinsGGATGGGCCCATCT (p.Ile1336_Pro1340delinsMetAspGlyProIleSer)
c.3558_3568delinsGGATGGGCCCATCT (p.Ile1186_Pro1190delinsMetAspGlyProIleSer)
c.1860_1870delinsGGATGGGCCCATCT (p.Ile620_Pro624delinsMetAspGlyProIleSer)
c.1677_1687delinsGGATGGGCCCATCT (p.Ile559_Pro563delinsMetAspGlyProIleSer)
c.3909_3919delinsGGATGGGCCCATCT (p.Ile1303_Pro1307delinsMetAspGlyProIleSer)
c.3861_3871delinsGGATGGGCCCATCT (p.Ile1287_Pro1291delinsMetAspGlyProIleSer)
c.3630_3640delinsGGATGGGCCCATCT (p.Ile1210_Pro1214delinsMetAspGlyProIleSer)
c.3531_3541delinsGGATGGGCCCATCT (p.Ile1177_Pro1181delinsMetAspGlyProIleSer)
c.2712_2722delinsGGATGGGCCCATCT (p.Ile904_Pro908delinsMetAspGlyProIleSer)
n.4263_4273delinsGGATGGGCCCATCT
13g.51935669G>ACA483893098ATP7Bc.*1698C>T (n.*1698C>T)
c.*2792C>T (n.*2792C>T)
c.3427C>T (p.Leu1143=)
c.4048C>T (p.Leu1350=)
c.3715C>T (p.Leu1239=)
c.3796C>T (p.Leu1266=)
n.1371C>T
c.3814C>T (p.Leu1272=)
n.4187C>T
n.914C>T
c.2983C>T (p.Leu995=)
c.2758C>T (p.Leu920=)
c.3853C>T (p.Leu1285=)
c.1826C>T
c.*1149C>T (n.*1149C>T)
n.4792C>T
n.3393C>T
c.3904C>T (p.Leu1302=)
c.3952C>T (p.Leu1318=)
c.4012C>T (p.Leu1338=)
c.3562C>T (p.Leu1188=)
c.1864C>T (p.Leu622=)
c.1681C>T (p.Leu561=)
c.3913C>T (p.Leu1305=)
c.3865C>T (p.Leu1289=)
c.3634C>T (p.Leu1212=)
c.3535C>T (p.Leu1179=)
c.2716C>T (p.Leu906=)
n.4267C>T
 gnomAD v4
13g.51935669G>CCA388020214ATP7Bc.*1698C>G (n.*1698C>G)
c.*2792C>G (n.*2792C>G)
c.3427C>G (p.Leu1143Val)
c.4048C>G (p.Leu1350Val)
c.3715C>G (p.Leu1239Val)
c.3796C>G (p.Leu1266Val)
n.1371C>G
c.3814C>G (p.Leu1272Val)
n.4187C>G
n.914C>G
c.2983C>G (p.Leu995Val)
c.2758C>G (p.Leu920Val)
c.3853C>G (p.Leu1285Val)
c.1826C>G
c.*1149C>G (n.*1149C>G)
n.4792C>G
n.3393C>G
c.3904C>G (p.Leu1302Val)
c.3952C>G (p.Leu1318Val)
c.4012C>G (p.Leu1338Val)
c.3562C>G (p.Leu1188Val)
c.1864C>G (p.Leu622Val)
c.1681C>G (p.Leu561Val)
c.3913C>G (p.Leu1305Val)
c.3865C>G (p.Leu1289Val)
c.3634C>G (p.Leu1212Val)
c.3535C>G (p.Leu1179Val)
c.2716C>G (p.Leu906Val)
n.4267C>G
 gnomAD v4
13g.51935669G>TCA388020215ATP7Bc.*1698C>A (n.*1698C>A)
c.*2792C>A (n.*2792C>A)
c.3427C>A (p.Leu1143Met)
c.4048C>A (p.Leu1350Met)
c.3715C>A (p.Leu1239Met)
c.3796C>A (p.Leu1266Met)
n.1371C>A
c.3814C>A (p.Leu1272Met)
n.4187C>A
n.914C>A
c.2983C>A (p.Leu995Met)
c.2758C>A (p.Leu920Met)
c.3853C>A (p.Leu1285Met)
c.1826C>A
c.*1149C>A (n.*1149C>A)
n.4792C>A
n.3393C>A
c.3904C>A (p.Leu1302Met)
c.3952C>A (p.Leu1318Met)
c.4012C>A (p.Leu1338Met)
c.3562C>A (p.Leu1188Met)
c.1864C>A (p.Leu622Met)
c.1681C>A (p.Leu561Met)
c.3913C>A (p.Leu1305Met)
c.3865C>A (p.Leu1289Met)
c.3634C>A (p.Leu1212Met)
c.3535C>A (p.Leu1179Met)
c.2716C>A (p.Leu906Met)
n.4267C>A
13g.51935670C>ACA483893103ATP7Bc.*1697G>T (n.*1697G>T)
c.*2791G>T (n.*2791G>T)
c.3426G>T (p.Val1142=)
c.4047G>T (p.Val1349=)
c.3714G>T (p.Val1238=)
c.3795G>T (p.Val1265=)
n.1370G>T
c.3813G>T (p.Val1271=)
n.4186G>T
n.913G>T
c.2982G>T (p.Val994=)
c.2757G>T (p.Val919=)
c.3852G>T (p.Val1284=)
c.1825G>T
c.*1148G>T (n.*1148G>T)
n.4791G>T
n.3392G>T
c.3903G>T (p.Val1301=)
c.3951G>T (p.Val1317=)
c.4011G>T (p.Val1337=)
c.3561G>T (p.Val1187=)
c.1863G>T (p.Val621=)
c.1680G>T (p.Val560=)
c.3912G>T (p.Val1304=)
c.3864G>T (p.Val1288=)
c.3633G>T (p.Val1211=)
c.3534G>T (p.Val1178=)
c.2715G>T (p.Val905=)
n.4266G>T
13g.51935670C>GCA483893106ATP7Bc.*1697G>C (n.*1697G>C)
c.*2791G>C (n.*2791G>C)
c.3426G>C (p.Val1142=)
c.4047G>C (p.Val1349=)
c.3714G>C (p.Val1238=)
c.3795G>C (p.Val1265=)
n.1370G>C
c.3813G>C (p.Val1271=)
n.4186G>C
n.913G>C
c.2982G>C (p.Val994=)
c.2757G>C (p.Val919=)
c.3852G>C (p.Val1284=)
c.1825G>C
c.*1148G>C (n.*1148G>C)
n.4791G>C
n.3392G>C
c.3903G>C (p.Val1301=)
c.3951G>C (p.Val1317=)
c.4011G>C (p.Val1337=)
c.3561G>C (p.Val1187=)
c.1863G>C (p.Val621=)
c.1680G>C (p.Val560=)
c.3912G>C (p.Val1304=)
c.3864G>C (p.Val1288=)
c.3633G>C (p.Val1211=)
c.3534G>C (p.Val1178=)
c.2715G>C (p.Val905=)
n.4266G>C
13g.51935670C>TCA483893109ATP7Bc.*1697G>A (n.*1697G>A)
c.*2791G>A (n.*2791G>A)
c.3426G>A (p.Val1142=)
c.4047G>A (p.Val1349=)
c.3714G>A (p.Val1238=)
c.3795G>A (p.Val1265=)
n.1370G>A
c.3813G>A (p.Val1271=)
n.4186G>A
n.913G>A
c.2982G>A (p.Val994=)
c.2757G>A (p.Val919=)
c.3852G>A (p.Val1284=)
c.1825G>A
c.*1148G>A (n.*1148G>A)
n.4791G>A
n.3392G>A
c.3903G>A (p.Val1301=)
c.3951G>A (p.Val1317=)
c.4011G>A (p.Val1337=)
c.3561G>A (p.Val1187=)
c.1863G>A (p.Val621=)
c.1680G>A (p.Val560=)
c.3912G>A (p.Val1304=)
c.3864G>A (p.Val1288=)
c.3633G>A (p.Val1211=)
c.3534G>A (p.Val1178=)
c.2715G>A (p.Val905=)
n.4266G>A
13g.51935671A>CCA388020216ATP7Bc.*1696T>G (n.*1696T>G)
c.*2790T>G (n.*2790T>G)
c.3425T>G (p.Val1142Gly)
c.4046T>G (p.Val1349Gly)
c.3713T>G (p.Val1238Gly)
c.3794T>G (p.Val1265Gly)
n.1369T>G
c.3812T>G (p.Val1271Gly)
n.4185T>G
n.912T>G
c.2981T>G (p.Val994Gly)
c.2756T>G (p.Val919Gly)
c.3851T>G (p.Val1284Gly)
c.1824T>G
c.*1147T>G (n.*1147T>G)
n.4790T>G
n.3391T>G
c.3902T>G (p.Val1301Gly)
c.3950T>G (p.Val1317Gly)
c.4010T>G (p.Val1337Gly)
c.3560T>G (p.Val1187Gly)
c.1862T>G (p.Val621Gly)
c.1679T>G (p.Val560Gly)
c.3911T>G (p.Val1304Gly)
c.3863T>G (p.Val1288Gly)
c.3632T>G (p.Val1211Gly)
c.3533T>G (p.Val1178Gly)
c.2714T>G (p.Val905Gly)
n.4265T>G
13g.51935671A>GCA388020217ATP7Bc.*1696T>C (n.*1696T>C)
c.*2790T>C (n.*2790T>C)
c.3425T>C (p.Val1142Ala)
c.4046T>C (p.Val1349Ala)
c.3713T>C (p.Val1238Ala)
c.3794T>C (p.Val1265Ala)
n.1369T>C
c.3812T>C (p.Val1271Ala)
n.4185T>C
n.912T>C
c.2981T>C (p.Val994Ala)
c.2756T>C (p.Val919Ala)
c.3851T>C (p.Val1284Ala)
c.1824T>C
c.*1147T>C (n.*1147T>C)
n.4790T>C
n.3391T>C
c.3902T>C (p.Val1301Ala)
c.3950T>C (p.Val1317Ala)
c.4010T>C (p.Val1337Ala)
c.3560T>C (p.Val1187Ala)
c.1862T>C (p.Val621Ala)
c.1679T>C (p.Val560Ala)
c.3911T>C (p.Val1304Ala)
c.3863T>C (p.Val1288Ala)
c.3632T>C (p.Val1211Ala)
c.3533T>C (p.Val1178Ala)
c.2714T>C (p.Val905Ala)
n.4265T>C
 gnomAD v4
13g.51935671A>TCA388020219ATP7Bc.*1696T>A (n.*1696T>A)
c.*2790T>A (n.*2790T>A)
c.3425T>A (p.Val1142Glu)
c.4046T>A (p.Val1349Glu)
c.3713T>A (p.Val1238Glu)
c.3794T>A (p.Val1265Glu)
n.1369T>A
c.3812T>A (p.Val1271Glu)
n.4185T>A
n.912T>A
c.2981T>A (p.Val994Glu)
c.2756T>A (p.Val919Glu)
c.3851T>A (p.Val1284Glu)
c.1824T>A
c.*1147T>A (n.*1147T>A)
n.4790T>A
n.3391T>A
c.3902T>A (p.Val1301Glu)
c.3950T>A (p.Val1317Glu)
c.4010T>A (p.Val1337Glu)
c.3560T>A (p.Val1187Glu)
c.1862T>A (p.Val621Glu)
c.1679T>A (p.Val560Glu)
c.3911T>A (p.Val1304Glu)
c.3863T>A (p.Val1288Glu)
c.3632T>A (p.Val1211Glu)
c.3533T>A (p.Val1178Glu)
c.2714T>A (p.Val905Glu)
n.4265T>A
13g.51935672C>ACA388020220ATP7Bc.*1695G>T (n.*1695G>T)
c.*2789G>T (n.*2789G>T)
c.3424G>T (p.Val1142Leu)
c.4045G>T (p.Val1349Leu)
c.3712G>T (p.Val1238Leu)
c.3793G>T (p.Val1265Leu)
n.1368G>T
c.3811G>T (p.Val1271Leu)
n.4184G>T
n.911G>T
c.2980G>T (p.Val994Leu)
c.2755G>T (p.Val919Leu)
c.3850G>T (p.Val1284Leu)
c.1823G>T
c.*1146G>T (n.*1146G>T)
n.4789G>T
n.3390G>T
c.3901G>T (p.Val1301Leu)
c.3949G>T (p.Val1317Leu)
c.4009G>T (p.Val1337Leu)
c.3559G>T (p.Val1187Leu)
c.1861G>T (p.Val621Leu)
c.1678G>T (p.Val560Leu)
c.3910G>T (p.Val1304Leu)
c.3862G>T (p.Val1288Leu)
c.3631G>T (p.Val1211Leu)
c.3532G>T (p.Val1178Leu)
c.2713G>T (p.Val905Leu)
n.4264G>T
13g.51935672C=CA2091551388ATP7Bc.*1695G= (n.*1695G=)
c.*2789G= (n.*2789G=)
c.3424G= (p.Val1142=)
c.4045G= (p.Val1349=)
c.3712G= (p.Val1238=)
c.3793G= (p.Val1265=)
n.1368G=
c.3811G= (p.Val1271=)
n.4184G=
n.911G=
c.2980G= (p.Val994=)
c.2755G= (p.Val919=)
c.3850G= (p.Val1284=)
c.1823G=
c.*1146G= (n.*1146G=)
n.4789G=
n.3390G=
c.3901G= (p.Val1301=)
c.3949G= (p.Val1317=)
c.4009G= (p.Val1337=)
c.3559G= (p.Val1187=)
c.1861G= (p.Val621=)
c.1678G= (p.Val560=)
c.3910G= (p.Val1304=)
c.3862G= (p.Val1288=)
c.3631G= (p.Val1211=)
c.3532G= (p.Val1178=)
c.2713G= (p.Val905=)
n.4264G=
13g.51935672C>GCA6988500ATP7Bc.*1695G>C (n.*1695G>C)
c.*2789G>C (n.*2789G>C)
c.3424G>C (p.Val1142Leu)
c.4045G>C (p.Val1349Leu)
c.3712G>C (p.Val1238Leu)
c.3793G>C (p.Val1265Leu)
n.1368G>C
c.3811G>C (p.Val1271Leu)
n.4184G>C
n.911G>C
c.2980G>C (p.Val994Leu)
c.2755G>C (p.Val919Leu)
c.3850G>C (p.Val1284Leu)
c.1823G>C
c.*1146G>C (n.*1146G>C)
n.4789G>C
n.3390G>C
c.3901G>C (p.Val1301Leu)
c.3949G>C (p.Val1317Leu)
c.4009G>C (p.Val1337Leu)
c.3559G>C (p.Val1187Leu)
c.1861G>C (p.Val621Leu)
c.1678G>C (p.Val560Leu)
c.3910G>C (p.Val1304Leu)
c.3862G>C (p.Val1288Leu)
c.3631G>C (p.Val1211Leu)
c.3532G>C (p.Val1178Leu)
c.2713G>C (p.Val905Leu)
n.4264G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51935672C>TCA388020221ATP7Bc.*1695G>A (n.*1695G>A)
c.*2789G>A (n.*2789G>A)
c.3424G>A (p.Val1142Met)
c.4045G>A (p.Val1349Met)
c.3712G>A (p.Val1238Met)
c.3793G>A (p.Val1265Met)
n.1368G>A
c.3811G>A (p.Val1271Met)
n.4184G>A
n.911G>A
c.2980G>A (p.Val994Met)
c.2755G>A (p.Val919Met)
c.3850G>A (p.Val1284Met)
c.1823G>A
c.*1146G>A (n.*1146G>A)
n.4789G>A
n.3390G>A
c.3901G>A (p.Val1301Met)
c.3949G>A (p.Val1317Met)
c.4009G>A (p.Val1337Met)
c.3559G>A (p.Val1187Met)
c.1861G>A (p.Val621Met)
c.1678G>A (p.Val560Met)
c.3910G>A (p.Val1304Met)
c.3862G>A (p.Val1288Met)
c.3631G>A (p.Val1211Met)
c.3532G>A (p.Val1178Met)
c.2713G>A (p.Val905Met)
n.4264G>A
 dbSNP gnomAD v3 gnomAD v4
13g.51935673A>CCA388020223ATP7Bc.*1694T>G (n.*1694T>G)
c.*2788T>G (n.*2788T>G)
c.3423T>G (p.Ile1141Met)
c.4044T>G (p.Ile1348Met)
c.3711T>G (p.Ile1237Met)
c.3792T>G (p.Ile1264Met)
n.1367T>G
c.3810T>G (p.Ile1270Met)
n.4183T>G
n.910T>G
c.2979T>G (p.Ile993Met)
c.2754T>G (p.Ile918Met)
c.3849T>G (p.Ile1283Met)
c.1822T>G
c.*1145T>G (n.*1145T>G)
n.4788T>G
n.3389T>G
c.3900T>G (p.Ile1300Met)
c.3948T>G (p.Ile1316Met)
c.4008T>G (p.Ile1336Met)
c.3558T>G (p.Ile1186Met)
c.1860T>G (p.Ile620Met)
c.1677T>G (p.Ile559Met)
c.3909T>G (p.Ile1303Met)
c.3861T>G (p.Ile1287Met)
c.3630T>G (p.Ile1210Met)
c.3531T>G (p.Ile1177Met)
c.2712T>G (p.Ile904Met)
n.4263T>G
13g.51935673A>GCA483893117ATP7Bc.*1694T>C (n.*1694T>C)
c.*2788T>C (n.*2788T>C)
c.3423T>C (p.Ile1141=)
c.4044T>C (p.Ile1348=)
c.3711T>C (p.Ile1237=)
c.3792T>C (p.Ile1264=)
n.1367T>C
c.3810T>C (p.Ile1270=)
n.4183T>C
n.910T>C
c.2979T>C (p.Ile993=)
c.2754T>C (p.Ile918=)
c.3849T>C (p.Ile1283=)
c.1822T>C
c.*1145T>C (n.*1145T>C)
n.4788T>C
n.3389T>C
c.3900T>C (p.Ile1300=)
c.3948T>C (p.Ile1316=)
c.4008T>C (p.Ile1336=)
c.3558T>C (p.Ile1186=)
c.1860T>C (p.Ile620=)
c.1677T>C (p.Ile559=)
c.3909T>C (p.Ile1303=)
c.3861T>C (p.Ile1287=)
c.3630T>C (p.Ile1210=)
c.3531T>C (p.Ile1177=)
c.2712T>C (p.Ile904=)
n.4263T>C
13g.51935673A>TCA483893119ATP7Bc.*1694T>A (n.*1694T>A)
c.*2788T>A (n.*2788T>A)
c.3423T>A (p.Ile1141=)
c.4044T>A (p.Ile1348=)
c.3711T>A (p.Ile1237=)
c.3792T>A (p.Ile1264=)
n.1367T>A
c.3810T>A (p.Ile1270=)
n.4183T>A
n.910T>A
c.2979T>A (p.Ile993=)
c.2754T>A (p.Ile918=)
c.3849T>A (p.Ile1283=)
c.1822T>A
c.*1145T>A (n.*1145T>A)
n.4788T>A
n.3389T>A
c.3900T>A (p.Ile1300=)
c.3948T>A (p.Ile1316=)
c.4008T>A (p.Ile1336=)
c.3558T>A (p.Ile1186=)
c.1860T>A (p.Ile620=)
c.1677T>A (p.Ile559=)
c.3909T>A (p.Ile1303=)
c.3861T>A (p.Ile1287=)
c.3630T>A (p.Ile1210=)
c.3531T>A (p.Ile1177=)
c.2712T>A (p.Ile904=)
n.4263T>A
13g.51935674A>CCA388020225ATP7Bc.*1693T>G (n.*1693T>G)
c.*2787T>G (n.*2787T>G)
c.3422T>G (p.Ile1141Ser)
c.4043T>G (p.Ile1348Ser)
c.3710T>G (p.Ile1237Ser)
c.3791T>G (p.Ile1264Ser)
n.1366T>G
c.3809T>G (p.Ile1270Ser)
n.4182T>G
n.909T>G
c.2978T>G (p.Ile993Ser)
c.2753T>G (p.Ile918Ser)
c.3848T>G (p.Ile1283Ser)
c.1821T>G
c.*1144T>G (n.*1144T>G)
n.4787T>G
n.3388T>G
c.3899T>G (p.Ile1300Ser)
c.3947T>G (p.Ile1316Ser)
c.4007T>G (p.Ile1336Ser)
c.3557T>G (p.Ile1186Ser)
c.1859T>G (p.Ile620Ser)
c.1676T>G (p.Ile559Ser)
c.3908T>G (p.Ile1303Ser)
c.3860T>G (p.Ile1287Ser)
c.3629T>G (p.Ile1210Ser)
c.3530T>G (p.Ile1177Ser)
c.2711T>G (p.Ile904Ser)
n.4262T>G
13g.51935674A>GCA388020228ATP7Bc.*1693T>C (n.*1693T>C)
c.*2787T>C (n.*2787T>C)
c.3422T>C (p.Ile1141Thr)
c.4043T>C (p.Ile1348Thr)
c.3710T>C (p.Ile1237Thr)
c.3791T>C (p.Ile1264Thr)
n.1366T>C
c.3809T>C (p.Ile1270Thr)
n.4182T>C
n.909T>C
c.2978T>C (p.Ile993Thr)
c.2753T>C (p.Ile918Thr)
c.3848T>C (p.Ile1283Thr)
c.1821T>C
c.*1144T>C (n.*1144T>C)
n.4787T>C
n.3388T>C
c.3899T>C (p.Ile1300Thr)
c.3947T>C (p.Ile1316Thr)
c.4007T>C (p.Ile1336Thr)
c.3557T>C (p.Ile1186Thr)
c.1859T>C (p.Ile620Thr)
c.1676T>C (p.Ile559Thr)
c.3908T>C (p.Ile1303Thr)
c.3860T>C (p.Ile1287Thr)
c.3629T>C (p.Ile1210Thr)
c.3530T>C (p.Ile1177Thr)
c.2711T>C (p.Ile904Thr)
n.4262T>C
13g.51935674A>TCA388020229ATP7Bc.*1693T>A (n.*1693T>A)
c.*2787T>A (n.*2787T>A)
c.3422T>A (p.Ile1141Asn)
c.4043T>A (p.Ile1348Asn)
c.3710T>A (p.Ile1237Asn)
c.3791T>A (p.Ile1264Asn)
n.1366T>A
c.3809T>A (p.Ile1270Asn)
n.4182T>A
n.909T>A
c.2978T>A (p.Ile993Asn)
c.2753T>A (p.Ile918Asn)
c.3848T>A (p.Ile1283Asn)
c.1821T>A
c.*1144T>A (n.*1144T>A)
n.4787T>A
n.3388T>A
c.3899T>A (p.Ile1300Asn)
c.3947T>A (p.Ile1316Asn)
c.4007T>A (p.Ile1336Asn)
c.3557T>A (p.Ile1186Asn)
c.1859T>A (p.Ile620Asn)
c.1676T>A (p.Ile559Asn)
c.3908T>A (p.Ile1303Asn)
c.3860T>A (p.Ile1287Asn)
c.3629T>A (p.Ile1210Asn)
c.3530T>A (p.Ile1177Asn)
c.2711T>A (p.Ile904Asn)
n.4262T>A
13g.51935674_51935675delCA2739291795ATP7Bc.*1692_*1693del (n.*1692_*1693del)
c.*2786_*2787del (n.*2786_*2787del)
c.3421_3422del (p.Ile1141CysfsTer29)
c.4042_4043del (p.Ile1348CysfsTer29)
c.3709_3710del (p.Ile1237CysfsTer29)
c.3790_3791del (p.Ile1264CysfsTer29)
n.1365_1366del
c.3808_3809del (p.Ile1270CysfsTer29)
n.4181_4182del
n.908_909del
c.2977_2978del (p.Ile993CysfsTer29)
c.2752_2753del (p.Ile918CysfsTer29)
c.3847_3848del (p.Ile1283CysfsTer29)
c.1820_1821del
c.*1143_*1144del (n.*1143_*1144del)
n.4786_4787del
n.3387_3388del
c.3898_3899del (p.Ile1300CysfsTer29)
c.3946_3947del (p.Ile1316CysfsTer29)
c.4006_4007del (p.Ile1336CysfsTer29)
c.3556_3557del (p.Ile1186CysfsTer29)
c.1858_1859del (p.Ile620CysfsTer29)
c.1675_1676del (p.Ile559CysfsTer29)
c.3907_3908del (p.Ile1303CysfsTer29)
c.3859_3860del (p.Ile1287CysfsTer29)
c.3628_3629del (p.Ile1210CysfsTer29)
c.3529_3530del (p.Ile1177CysfsTer29)
c.2710_2711del (p.Ile904CysfsTer29)
n.4261_4262del
13g.51935675T>ACA388020232ATP7Bc.*1692A>T (n.*1692A>T)
c.*2786A>T (n.*2786A>T)
c.3421A>T (p.Ile1141Phe)
c.4042A>T (p.Ile1348Phe)
c.3709A>T (p.Ile1237Phe)
c.3790A>T (p.Ile1264Phe)
n.1365A>T
c.3808A>T (p.Ile1270Phe)
n.4181A>T
n.908A>T
c.2977A>T (p.Ile993Phe)
c.2752A>T (p.Ile918Phe)
c.3847A>T (p.Ile1283Phe)
c.1820A>T
c.*1143A>T (n.*1143A>T)
n.4786A>T
n.3387A>T
c.3898A>T (p.Ile1300Phe)
c.3946A>T (p.Ile1316Phe)
c.4006A>T (p.Ile1336Phe)
c.3556A>T (p.Ile1186Phe)
c.1858A>T (p.Ile620Phe)
c.1675A>T (p.Ile559Phe)
c.3907A>T (p.Ile1303Phe)
c.3859A>T (p.Ile1287Phe)
c.3628A>T (p.Ile1210Phe)
c.3529A>T (p.Ile1177Phe)
c.2710A>T (p.Ile904Phe)
n.4261A>T
13g.51935675T>CCA388020233ATP7Bc.*1692A>G (n.*1692A>G)
c.*2786A>G (n.*2786A>G)
c.3421A>G (p.Ile1141Val)
c.4042A>G (p.Ile1348Val)
c.3709A>G (p.Ile1237Val)
c.3790A>G (p.Ile1264Val)
n.1365A>G
c.3808A>G (p.Ile1270Val)
n.4181A>G
n.908A>G
c.2977A>G (p.Ile993Val)
c.2752A>G (p.Ile918Val)
c.3847A>G (p.Ile1283Val)
c.1820A>G
c.*1143A>G (n.*1143A>G)
n.4786A>G
n.3387A>G
c.3898A>G (p.Ile1300Val)
c.3946A>G (p.Ile1316Val)
c.4006A>G (p.Ile1336Val)
c.3556A>G (p.Ile1186Val)
c.1858A>G (p.Ile620Val)
c.1675A>G (p.Ile559Val)
c.3907A>G (p.Ile1303Val)
c.3859A>G (p.Ile1287Val)
c.3628A>G (p.Ile1210Val)
c.3529A>G (p.Ile1177Val)
c.2710A>G (p.Ile904Val)
n.4261A>G
13g.51935675T>GCA388020235ATP7Bc.*1692A>C (n.*1692A>C)
c.*2786A>C (n.*2786A>C)
c.3421A>C (p.Ile1141Leu)
c.4042A>C (p.Ile1348Leu)
c.3709A>C (p.Ile1237Leu)
c.3790A>C (p.Ile1264Leu)
n.1365A>C
c.3808A>C (p.Ile1270Leu)
n.4181A>C
n.908A>C
c.2977A>C (p.Ile993Leu)
c.2752A>C (p.Ile918Leu)
c.3847A>C (p.Ile1283Leu)
c.1820A>C
c.*1143A>C (n.*1143A>C)
n.4786A>C
n.3387A>C
c.3898A>C (p.Ile1300Leu)
c.3946A>C (p.Ile1316Leu)
c.4006A>C (p.Ile1336Leu)
c.3556A>C (p.Ile1186Leu)
c.1858A>C (p.Ile620Leu)
c.1675A>C (p.Ile559Leu)
c.3907A>C (p.Ile1303Leu)
c.3859A>C (p.Ile1287Leu)
c.3628A>C (p.Ile1210Leu)
c.3529A>C (p.Ile1177Leu)
c.2710A>C (p.Ile904Leu)
n.4261A>C
13g.51935676G>ACA483893139ATP7Bc.*1691C>T (n.*1691C>T)
c.*2785C>T (n.*2785C>T)
c.3420C>T (p.Gly1140=)
c.4041C>T (p.Gly1347=)
c.3708C>T (p.Gly1236=)
c.3789C>T (p.Gly1263=)
n.1364C>T
c.3807C>T (p.Gly1269=)
n.4180C>T
n.907C>T
c.2976C>T (p.Gly992=)
c.2751C>T (p.Gly917=)
c.3846C>T (p.Gly1282=)
c.1819C>T
c.*1142C>T (n.*1142C>T)
n.4785C>T
n.3386C>T
c.3897C>T (p.Gly1299=)
c.3945C>T (p.Gly1315=)
c.4005C>T (p.Gly1335=)
c.3555C>T (p.Gly1185=)
c.1857C>T (p.Gly619=)
c.1674C>T (p.Gly558=)
c.3906C>T (p.Gly1302=)
c.3858C>T (p.Gly1286=)
c.3627C>T (p.Gly1209=)
c.3528C>T (p.Gly1176=)
c.2709C>T (p.Gly903=)
n.4260C>T
13g.51935676G>CCA483893134ATP7Bc.*1691C>G (n.*1691C>G)
c.*2785C>G (n.*2785C>G)
c.3420C>G (p.Gly1140=)
c.4041C>G (p.Gly1347=)
c.3708C>G (p.Gly1236=)
c.3789C>G (p.Gly1263=)
n.1364C>G
c.3807C>G (p.Gly1269=)
n.4180C>G
n.907C>G
c.2976C>G (p.Gly992=)
c.2751C>G (p.Gly917=)
c.3846C>G (p.Gly1282=)
c.1819C>G
c.*1142C>G (n.*1142C>G)
n.4785C>G
n.3386C>G
c.3897C>G (p.Gly1299=)
c.3945C>G (p.Gly1315=)
c.4005C>G (p.Gly1335=)
c.3555C>G (p.Gly1185=)
c.1857C>G (p.Gly619=)
c.1674C>G (p.Gly558=)
c.3906C>G (p.Gly1302=)
c.3858C>G (p.Gly1286=)
c.3627C>G (p.Gly1209=)
c.3528C>G (p.Gly1176=)
c.2709C>G (p.Gly903=)
n.4260C>G
13g.51935676G>TCA483893130ATP7Bc.*1691C>A (n.*1691C>A)
c.*2785C>A (n.*2785C>A)
c.3420C>A (p.Gly1140=)
c.4041C>A (p.Gly1347=)
c.3708C>A (p.Gly1236=)
c.3789C>A (p.Gly1263=)
n.1364C>A
c.3807C>A (p.Gly1269=)
n.4180C>A
n.907C>A
c.2976C>A (p.Gly992=)
c.2751C>A (p.Gly917=)
c.3846C>A (p.Gly1282=)
c.1819C>A
c.*1142C>A (n.*1142C>A)
n.4785C>A
n.3386C>A
c.3897C>A (p.Gly1299=)
c.3945C>A (p.Gly1315=)
c.4005C>A (p.Gly1335=)
c.3555C>A (p.Gly1185=)
c.1857C>A (p.Gly619=)
c.1674C>A (p.Gly558=)
c.3906C>A (p.Gly1302=)
c.3858C>A (p.Gly1286=)
c.3627C>A (p.Gly1209=)
c.3528C>A (p.Gly1176=)
c.2709C>A (p.Gly903=)
n.4260C>A
13g.51935677C>ACA388020237ATP7Bc.*1690G>T (n.*1690G>T)
c.*2784G>T (n.*2784G>T)
c.3419G>T (p.Gly1140Val)
c.4040G>T (p.Gly1347Val)
c.3707G>T (p.Gly1236Val)
c.3788G>T (p.Gly1263Val)
n.1363G>T
c.3806G>T (p.Gly1269Val)
n.4179G>T
n.906G>T
c.2975G>T (p.Gly992Val)
c.2750G>T (p.Gly917Val)
c.3845G>T (p.Gly1282Val)
c.1818G>T
c.*1141G>T (n.*1141G>T)
n.4784G>T
n.3385G>T
c.3896G>T (p.Gly1299Val)
c.3944G>T (p.Gly1315Val)
c.4004G>T (p.Gly1335Val)
c.3554G>T (p.Gly1185Val)
c.1856G>T (p.Gly619Val)
c.1673G>T (p.Gly558Val)
c.3905G>T (p.Gly1302Val)
c.3857G>T (p.Gly1286Val)
c.3626G>T (p.Gly1209Val)
c.3527G>T (p.Gly1176Val)
c.2708G>T (p.Gly903Val)
n.4259G>T
13g.51935677C>GCA388020239ATP7Bc.*1690G>C (n.*1690G>C)
c.*2784G>C (n.*2784G>C)
c.3419G>C (p.Gly1140Ala)
c.4040G>C (p.Gly1347Ala)
c.3707G>C (p.Gly1236Ala)
c.3788G>C (p.Gly1263Ala)
n.1363G>C
c.3806G>C (p.Gly1269Ala)
n.4179G>C
n.906G>C
c.2975G>C (p.Gly992Ala)
c.2750G>C (p.Gly917Ala)
c.3845G>C (p.Gly1282Ala)
c.1818G>C
c.*1141G>C (n.*1141G>C)
n.4784G>C
n.3385G>C
c.3896G>C (p.Gly1299Ala)
c.3944G>C (p.Gly1315Ala)
c.4004G>C (p.Gly1335Ala)
c.3554G>C (p.Gly1185Ala)
c.1856G>C (p.Gly619Ala)
c.1673G>C (p.Gly558Ala)
c.3905G>C (p.Gly1302Ala)
c.3857G>C (p.Gly1286Ala)
c.3626G>C (p.Gly1209Ala)
c.3527G>C (p.Gly1176Ala)
c.2708G>C (p.Gly903Ala)
n.4259G>C
13g.51935677C>TCA388020241ATP7Bc.*1690G>A (n.*1690G>A)
c.*2784G>A (n.*2784G>A)
c.3419G>A (p.Gly1140Asp)
c.4040G>A (p.Gly1347Asp)
c.3707G>A (p.Gly1236Asp)
c.3788G>A (p.Gly1263Asp)
n.1363G>A
c.3806G>A (p.Gly1269Asp)
n.4179G>A
n.906G>A
c.2975G>A (p.Gly992Asp)
c.2750G>A (p.Gly917Asp)
c.3845G>A (p.Gly1282Asp)
c.1818G>A
c.*1141G>A (n.*1141G>A)
n.4784G>A
n.3385G>A
c.3896G>A (p.Gly1299Asp)
c.3944G>A (p.Gly1315Asp)
c.4004G>A (p.Gly1335Asp)
c.3554G>A (p.Gly1185Asp)
c.1856G>A (p.Gly619Asp)
c.1673G>A (p.Gly558Asp)
c.3905G>A (p.Gly1302Asp)
c.3857G>A (p.Gly1286Asp)
c.3626G>A (p.Gly1209Asp)
c.3527G>A (p.Gly1176Asp)
c.2708G>A (p.Gly903Asp)
n.4259G>A
 gnomAD v4
13g.51935678C>ACA388020247ATP7Bc.*1689G>T (n.*1689G>T)
c.*2783G>T (n.*2783G>T)
c.3418G>T (p.Gly1140Cys)
c.4039G>T (p.Gly1347Cys)
c.3706G>T (p.Gly1236Cys)
c.3787G>T (p.Gly1263Cys)
n.1362G>T
c.3805G>T (p.Gly1269Cys)
n.4178G>T
n.905G>T
c.2974G>T (p.Gly992Cys)
c.2749G>T (p.Gly917Cys)
c.3844G>T (p.Gly1282Cys)
c.1817G>T
c.*1140G>T (n.*1140G>T)
n.4783G>T
n.3384G>T
c.3895G>T (p.Gly1299Cys)
c.3943G>T (p.Gly1315Cys)
c.4003G>T (p.Gly1335Cys)
c.3553G>T (p.Gly1185Cys)
c.1855G>T (p.Gly619Cys)
c.1672G>T (p.Gly558Cys)
c.3904G>T (p.Gly1302Cys)
c.3856G>T (p.Gly1286Cys)
c.3625G>T (p.Gly1209Cys)
c.3526G>T (p.Gly1176Cys)
c.2707G>T (p.Gly903Cys)
n.4258G>T
13g.51935678C=CA2091551389ATP7Bc.*1689G= (n.*1689G=)
c.*2783G= (n.*2783G=)
c.3418G= (p.Gly1140=)
c.4039G= (p.Gly1347=)
c.3706G= (p.Gly1236=)
c.3787G= (p.Gly1263=)
n.1362G=
c.3805G= (p.Gly1269=)
n.4178G=
n.905G=
c.2974G= (p.Gly992=)
c.2749G= (p.Gly917=)
c.3844G= (p.Gly1282=)
c.1817G=
c.*1140G= (n.*1140G=)
n.4783G=
n.3384G=
c.3895G= (p.Gly1299=)
c.3943G= (p.Gly1315=)
c.4003G= (p.Gly1335=)
c.3553G= (p.Gly1185=)
c.1855G= (p.Gly619=)
c.1672G= (p.Gly558=)
c.3904G= (p.Gly1302=)
c.3856G= (p.Gly1286=)
c.3625G= (p.Gly1209=)
c.3526G= (p.Gly1176=)
c.2707G= (p.Gly903=)
n.4258G=
13g.51935678C>GCA388020243ATP7Bc.*1689G>C (n.*1689G>C)
c.*2783G>C (n.*2783G>C)
c.3418G>C (p.Gly1140Arg)
c.4039G>C (p.Gly1347Arg)
c.3706G>C (p.Gly1236Arg)
c.3787G>C (p.Gly1263Arg)
n.1362G>C
c.3805G>C (p.Gly1269Arg)
n.4178G>C
n.905G>C
c.2974G>C (p.Gly992Arg)
c.2749G>C (p.Gly917Arg)
c.3844G>C (p.Gly1282Arg)
c.1817G>C
c.*1140G>C (n.*1140G>C)
n.4783G>C
n.3384G>C
c.3895G>C (p.Gly1299Arg)
c.3943G>C (p.Gly1315Arg)
c.4003G>C (p.Gly1335Arg)
c.3553G>C (p.Gly1185Arg)
c.1855G>C (p.Gly619Arg)
c.1672G>C (p.Gly558Arg)
c.3904G>C (p.Gly1302Arg)
c.3856G>C (p.Gly1286Arg)
c.3625G>C (p.Gly1209Arg)
c.3526G>C (p.Gly1176Arg)
c.2707G>C (p.Gly903Arg)
n.4258G>C
13g.51935678C>TCA271178ATP7Bc.*1689G>A (n.*1689G>A)
c.*2783G>A (n.*2783G>A)
c.3418G>A (p.Gly1140Ser)
c.4039G>A (p.Gly1347Ser)
c.3706G>A (p.Gly1236Ser)
c.3787G>A (p.Gly1263Ser)
n.1362G>A
c.3805G>A (p.Gly1269Ser)
n.4178G>A
n.905G>A
c.2974G>A (p.Gly992Ser)
c.2749G>A (p.Gly917Ser)
c.3844G>A (p.Gly1282Ser)
c.1817G>A
c.*1140G>A (n.*1140G>A)
n.4783G>A
n.3384G>A
c.3895G>A (p.Gly1299Ser)
c.3943G>A (p.Gly1315Ser)
c.4003G>A (p.Gly1335Ser)
c.3553G>A (p.Gly1185Ser)
c.1855G>A (p.Gly619Ser)
c.1672G>A (p.Gly558Ser)
c.3904G>A (p.Gly1302Ser)
c.3856G>A (p.Gly1286Ser)
c.3625G>A (p.Gly1209Ser)
c.3526G>A (p.Gly1176Ser)
c.2707G>A (p.Gly903Ser)
n.4258G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51935679G>ACA6988501ATP7Bc.*1688C>T (n.*1688C>T)
c.*2782C>T (n.*2782C>T)
c.3417C>T (p.Ile1139=)
c.4038C>T (p.Ile1346=)
c.3705C>T (p.Ile1235=)
c.3786C>T (p.Ile1262=)
n.1361C>T
c.3804C>T (p.Ile1268=)
n.4177C>T
n.904C>T
c.2973C>T (p.Ile991=)
c.2748C>T (p.Ile916=)
c.3843C>T (p.Ile1281=)
c.1816C>T
c.*1139C>T (n.*1139C>T)
n.4782C>T
n.3383C>T
c.3894C>T (p.Ile1298=)
c.3942C>T (p.Ile1314=)
c.4002C>T (p.Ile1334=)
c.3552C>T (p.Ile1184=)
c.1854C>T (p.Ile618=)
c.1671C>T (p.Ile557=)
c.3903C>T (p.Ile1301=)
c.3855C>T (p.Ile1285=)
c.3624C>T (p.Ile1208=)
c.3525C>T (p.Ile1175=)
c.2706C>T (p.Ile902=)
n.4257C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51935679G>CCA388020252ATP7Bc.*1688C>G (n.*1688C>G)
c.*2782C>G (n.*2782C>G)
c.3417C>G (p.Ile1139Met)
c.4038C>G (p.Ile1346Met)
c.3705C>G (p.Ile1235Met)
c.3786C>G (p.Ile1262Met)
n.1361C>G
c.3804C>G (p.Ile1268Met)
n.4177C>G
n.904C>G
c.2973C>G (p.Ile991Met)
c.2748C>G (p.Ile916Met)
c.3843C>G (p.Ile1281Met)
c.1816C>G
c.*1139C>G (n.*1139C>G)
n.4782C>G
n.3383C>G
c.3894C>G (p.Ile1298Met)
c.3942C>G (p.Ile1314Met)
c.4002C>G (p.Ile1334Met)
c.3552C>G (p.Ile1184Met)
c.1854C>G (p.Ile618Met)
c.1671C>G (p.Ile557Met)
c.3903C>G (p.Ile1301Met)
c.3855C>G (p.Ile1285Met)
c.3624C>G (p.Ile1208Met)
c.3525C>G (p.Ile1175Met)
c.2706C>G (p.Ile902Met)
n.4257C>G
 gnomAD v4
13g.51935679G=CA2091551392ATP7Bc.*1688C= (n.*1688C=)
c.*2782C= (n.*2782C=)
c.3417C= (p.Ile1139=)
c.4038C= (p.Ile1346=)
c.3705C= (p.Ile1235=)
c.3786C= (p.Ile1262=)
n.1361C=
c.3804C= (p.Ile1268=)
n.4177C=
n.904C=
c.2973C= (p.Ile991=)
c.2748C= (p.Ile916=)
c.3843C= (p.Ile1281=)
c.1816C=
c.*1139C= (n.*1139C=)
n.4782C=
n.3383C=
c.3894C= (p.Ile1298=)
c.3942C= (p.Ile1314=)
c.4002C= (p.Ile1334=)
c.3552C= (p.Ile1184=)
c.1854C= (p.Ile618=)
c.1671C= (p.Ile557=)
c.3903C= (p.Ile1301=)
c.3855C= (p.Ile1285=)
c.3624C= (p.Ile1208=)
c.3525C= (p.Ile1175=)
c.2706C= (p.Ile902=)
n.4257C=
13g.51935679G>TCA483893147ATP7Bc.*1688C>A (n.*1688C>A)
c.*2782C>A (n.*2782C>A)
c.3417C>A (p.Ile1139=)
c.4038C>A (p.Ile1346=)
c.3705C>A (p.Ile1235=)
c.3786C>A (p.Ile1262=)
n.1361C>A
c.3804C>A (p.Ile1268=)
n.4177C>A
n.904C>A
c.2973C>A (p.Ile991=)
c.2748C>A (p.Ile916=)
c.3843C>A (p.Ile1281=)
c.1816C>A
c.*1139C>A (n.*1139C>A)
n.4782C>A
n.3383C>A
c.3894C>A (p.Ile1298=)
c.3942C>A (p.Ile1314=)
c.4002C>A (p.Ile1334=)
c.3552C>A (p.Ile1184=)
c.1854C>A (p.Ile618=)
c.1671C>A (p.Ile557=)
c.3903C>A (p.Ile1301=)
c.3855C>A (p.Ile1285=)
c.3624C>A (p.Ile1208=)
c.3525C>A (p.Ile1175=)
c.2706C>A (p.Ile902=)
n.4257C>A
13g.51935680A>CCA388020253ATP7Bc.*1687T>G (n.*1687T>G)
c.*2781T>G (n.*2781T>G)
c.3416T>G (p.Ile1139Ser)
c.4037T>G (p.Ile1346Ser)
c.3704T>G (p.Ile1235Ser)
c.3785T>G (p.Ile1262Ser)
n.1360T>G
c.3803T>G (p.Ile1268Ser)
n.4176T>G
n.903T>G
c.2972T>G (p.Ile991Ser)
c.2747T>G (p.Ile916Ser)
c.3842T>G (p.Ile1281Ser)
c.1815T>G
c.*1138T>G (n.*1138T>G)
n.4781T>G
n.3382T>G
c.3893T>G (p.Ile1298Ser)
c.3941T>G (p.Ile1314Ser)
c.4001T>G (p.Ile1334Ser)
c.3551T>G (p.Ile1184Ser)
c.1853T>G (p.Ile618Ser)
c.1670T>G (p.Ile557Ser)
c.3902T>G (p.Ile1301Ser)
c.3854T>G (p.Ile1285Ser)
c.3623T>G (p.Ile1208Ser)
c.3524T>G (p.Ile1175Ser)
c.2705T>G (p.Ile902Ser)
n.4256T>G
13g.51935680A>GCA388020254ATP7Bc.*1687T>C (n.*1687T>C)
c.*2781T>C (n.*2781T>C)
c.3416T>C (p.Ile1139Thr)
c.4037T>C (p.Ile1346Thr)
c.3704T>C (p.Ile1235Thr)
c.3785T>C (p.Ile1262Thr)
n.1360T>C
c.3803T>C (p.Ile1268Thr)
n.4176T>C
n.903T>C
c.2972T>C (p.Ile991Thr)
c.2747T>C (p.Ile916Thr)
c.3842T>C (p.Ile1281Thr)
c.1815T>C
c.*1138T>C (n.*1138T>C)
n.4781T>C
n.3382T>C
c.3893T>C (p.Ile1298Thr)
c.3941T>C (p.Ile1314Thr)
c.4001T>C (p.Ile1334Thr)
c.3551T>C (p.Ile1184Thr)
c.1853T>C (p.Ile618Thr)
c.1670T>C (p.Ile557Thr)
c.3902T>C (p.Ile1301Thr)
c.3854T>C (p.Ile1285Thr)
c.3623T>C (p.Ile1208Thr)
c.3524T>C (p.Ile1175Thr)
c.2705T>C (p.Ile902Thr)
n.4256T>C
13g.51935680A>TCA388020256ATP7Bc.*1687T>A (n.*1687T>A)
c.*2781T>A (n.*2781T>A)
c.3416T>A (p.Ile1139Asn)
c.4037T>A (p.Ile1346Asn)
c.3704T>A (p.Ile1235Asn)
c.3785T>A (p.Ile1262Asn)
n.1360T>A
c.3803T>A (p.Ile1268Asn)
n.4176T>A
n.903T>A
c.2972T>A (p.Ile991Asn)
c.2747T>A (p.Ile916Asn)
c.3842T>A (p.Ile1281Asn)
c.1815T>A
c.*1138T>A (n.*1138T>A)
n.4781T>A
n.3382T>A
c.3893T>A (p.Ile1298Asn)
c.3941T>A (p.Ile1314Asn)
c.4001T>A (p.Ile1334Asn)
c.3551T>A (p.Ile1184Asn)
c.1853T>A (p.Ile618Asn)
c.1670T>A (p.Ile557Asn)
c.3902T>A (p.Ile1301Asn)
c.3854T>A (p.Ile1285Asn)
c.3623T>A (p.Ile1208Asn)
c.3524T>A (p.Ile1175Asn)
c.2705T>A (p.Ile902Asn)
n.4256T>A
13g.51935681T>ACA388020260ATP7Bc.*1686A>T (n.*1686A>T)
c.*2780A>T (n.*2780A>T)
c.3415A>T (p.Ile1139Phe)
c.4036A>T (p.Ile1346Phe)
c.3703A>T (p.Ile1235Phe)
c.3784A>T (p.Ile1262Phe)
n.1359A>T
c.3802A>T (p.Ile1268Phe)
n.4175A>T
n.902A>T
c.2971A>T (p.Ile991Phe)
c.2746A>T (p.Ile916Phe)
c.3841A>T (p.Ile1281Phe)
c.1814A>T
c.*1137A>T (n.*1137A>T)
n.4780A>T
n.3381A>T
c.3892A>T (p.Ile1298Phe)
c.3940A>T (p.Ile1314Phe)
c.4000A>T (p.Ile1334Phe)
c.3550A>T (p.Ile1184Phe)
c.1852A>T (p.Ile618Phe)
c.1669A>T (p.Ile557Phe)
c.3901A>T (p.Ile1301Phe)
c.3853A>T (p.Ile1285Phe)
c.3622A>T (p.Ile1208Phe)
c.3523A>T (p.Ile1175Phe)
c.2704A>T (p.Ile902Phe)
n.4255A>T
 dbSNP gnomAD v4
13g.51935681T>CCA6988502ATP7Bc.*1686A>G (n.*1686A>G)
c.*2780A>G (n.*2780A>G)
c.3415A>G (p.Ile1139Val)
c.4036A>G (p.Ile1346Val)
c.3703A>G (p.Ile1235Val)
c.3784A>G (p.Ile1262Val)
n.1359A>G
c.3802A>G (p.Ile1268Val)
n.4175A>G
n.902A>G
c.2971A>G (p.Ile991Val)
c.2746A>G (p.Ile916Val)
c.3841A>G (p.Ile1281Val)
c.1814A>G
c.*1137A>G (n.*1137A>G)
n.4780A>G
n.3381A>G
c.3892A>G (p.Ile1298Val)
c.3940A>G (p.Ile1314Val)
c.4000A>G (p.Ile1334Val)
c.3550A>G (p.Ile1184Val)
c.1852A>G (p.Ile618Val)
c.1669A>G (p.Ile557Val)
c.3901A>G (p.Ile1301Val)
c.3853A>G (p.Ile1285Val)
c.3622A>G (p.Ile1208Val)
c.3523A>G (p.Ile1175Val)
c.2704A>G (p.Ile902Val)
n.4255A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51935681T>GCA388020261ATP7Bc.*1686A>C (n.*1686A>C)
c.*2780A>C (n.*2780A>C)
c.3415A>C (p.Ile1139Leu)
c.4036A>C (p.Ile1346Leu)
c.3703A>C (p.Ile1235Leu)
c.3784A>C (p.Ile1262Leu)
n.1359A>C
c.3802A>C (p.Ile1268Leu)
n.4175A>C
n.902A>C
c.2971A>C (p.Ile991Leu)
c.2746A>C (p.Ile916Leu)
c.3841A>C (p.Ile1281Leu)
c.1814A>C
c.*1137A>C (n.*1137A>C)
n.4780A>C
n.3381A>C
c.3892A>C (p.Ile1298Leu)
c.3940A>C (p.Ile1314Leu)
c.4000A>C (p.Ile1334Leu)
c.3550A>C (p.Ile1184Leu)
c.1852A>C (p.Ile618Leu)
c.1669A>C (p.Ile557Leu)
c.3901A>C (p.Ile1301Leu)
c.3853A>C (p.Ile1285Leu)
c.3622A>C (p.Ile1208Leu)
c.3523A>C (p.Ile1175Leu)
c.2704A>C (p.Ile902Leu)
n.4255A>C
13g.51935681T=CA2091551394ATP7Bc.*1686A= (n.*1686A=)
c.*2780A= (n.*2780A=)
c.3415A= (p.Ile1139=)
c.4036A= (p.Ile1346=)
c.3703A= (p.Ile1235=)
c.3784A= (p.Ile1262=)
n.1359A=
c.3802A= (p.Ile1268=)
n.4175A=
n.902A=
c.2971A= (p.Ile991=)
c.2746A= (p.Ile916=)
c.3841A= (p.Ile1281=)
c.1814A=
c.*1137A= (n.*1137A=)
n.4780A=
n.3381A=
c.3892A= (p.Ile1298=)
c.3940A= (p.Ile1314=)
c.4000A= (p.Ile1334=)
c.3550A= (p.Ile1184=)
c.1852A= (p.Ile618=)
c.1669A= (p.Ile557=)
c.3901A= (p.Ile1301=)
c.3853A= (p.Ile1285=)
c.3622A= (p.Ile1208=)
c.3523A= (p.Ile1175=)
c.2704A= (p.Ile902=)
n.4255A=
13g.51935682G>ACA250072158ATP7Bc.*1685C>T (n.*1685C>T)
c.*2779C>T (n.*2779C>T)
c.3414C>T (p.Pro1138=)
c.4035C>T (p.Pro1345=)
c.3702C>T (p.Pro1234=)
c.3783C>T (p.Pro1261=)
n.1358C>T
c.3801C>T (p.Pro1267=)
n.4174C>T
n.901C>T
c.2970C>T (p.Pro990=)
c.2745C>T (p.Pro915=)
c.3840C>T (p.Pro1280=)
c.1813C>T
c.*1136C>T (n.*1136C>T)
n.4779C>T
n.3380C>T
c.3891C>T (p.Pro1297=)
c.3939C>T (p.Pro1313=)
c.3999C>T (p.Pro1333=)
c.3549C>T (p.Pro1183=)
c.1851C>T (p.Pro617=)
c.1668C>T (p.Pro556=)
c.3900C>T (p.Pro1300=)
c.3852C>T (p.Pro1284=)
c.3621C>T (p.Pro1207=)
c.3522C>T (p.Pro1174=)
c.2703C>T (p.Pro901=)
n.4254C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51935682G>CCA483893159ATP7Bc.*1685C>G (n.*1685C>G)
c.*2779C>G (n.*2779C>G)
c.3414C>G (p.Pro1138=)
c.4035C>G (p.Pro1345=)
c.3702C>G (p.Pro1234=)
c.3783C>G (p.Pro1261=)
n.1358C>G
c.3801C>G (p.Pro1267=)
n.4174C>G
n.901C>G
c.2970C>G (p.Pro990=)
c.2745C>G (p.Pro915=)
c.3840C>G (p.Pro1280=)
c.1813C>G
c.*1136C>G (n.*1136C>G)
n.4779C>G
n.3380C>G
c.3891C>G (p.Pro1297=)
c.3939C>G (p.Pro1313=)
c.3999C>G (p.Pro1333=)
c.3549C>G (p.Pro1183=)
c.1851C>G (p.Pro617=)
c.1668C>G (p.Pro556=)
c.3900C>G (p.Pro1300=)
c.3852C>G (p.Pro1284=)
c.3621C>G (p.Pro1207=)
c.3522C>G (p.Pro1174=)
c.2703C>G (p.Pro901=)
n.4254C>G
13g.51935682G=CA2091551396ATP7Bc.*1685C= (n.*1685C=)
c.*2779C= (n.*2779C=)
c.3414C= (p.Pro1138=)
c.4035C= (p.Pro1345=)
c.3702C= (p.Pro1234=)
c.3783C= (p.Pro1261=)
n.1358C=
c.3801C= (p.Pro1267=)
n.4174C=
n.901C=
c.2970C= (p.Pro990=)
c.2745C= (p.Pro915=)
c.3840C= (p.Pro1280=)
c.1813C=
c.*1136C= (n.*1136C=)
n.4779C=
n.3380C=
c.3891C= (p.Pro1297=)
c.3939C= (p.Pro1313=)
c.3999C= (p.Pro1333=)
c.3549C= (p.Pro1183=)
c.1851C= (p.Pro617=)
c.1668C= (p.Pro556=)
c.3900C= (p.Pro1300=)
c.3852C= (p.Pro1284=)
c.3621C= (p.Pro1207=)
c.3522C= (p.Pro1174=)
c.2703C= (p.Pro901=)
n.4254C=
13g.51935682G>TCA483893158ATP7Bc.*1685C>A (n.*1685C>A)
c.*2779C>A (n.*2779C>A)
c.3414C>A (p.Pro1138=)
c.4035C>A (p.Pro1345=)
c.3702C>A (p.Pro1234=)
c.3783C>A (p.Pro1261=)
n.1358C>A
c.3801C>A (p.Pro1267=)
n.4174C>A
n.901C>A
c.2970C>A (p.Pro990=)
c.2745C>A (p.Pro915=)
c.3840C>A (p.Pro1280=)
c.1813C>A
c.*1136C>A (n.*1136C>A)
n.4779C>A
n.3380C>A
c.3891C>A (p.Pro1297=)
c.3939C>A (p.Pro1313=)
c.3999C>A (p.Pro1333=)
c.3549C>A (p.Pro1183=)
c.1851C>A (p.Pro617=)
c.1668C>A (p.Pro556=)
c.3900C>A (p.Pro1300=)
c.3852C>A (p.Pro1284=)
c.3621C>A (p.Pro1207=)
c.3522C>A (p.Pro1174=)
c.2703C>A (p.Pro901=)
n.4254C>A
13g.51935683G>ACA388020264ATP7Bc.*1684C>T (n.*1684C>T)
c.*2778C>T (n.*2778C>T)
c.3413C>T (p.Pro1138Leu)
c.4034C>T (p.Pro1345Leu)
c.3701C>T (p.Pro1234Leu)
c.3782C>T (p.Pro1261Leu)
n.1357C>T
c.3800C>T (p.Pro1267Leu)
n.4173C>T
n.900C>T
c.2969C>T (p.Pro990Leu)
c.2744C>T (p.Pro915Leu)
c.3839C>T (p.Pro1280Leu)
c.1812C>T
c.*1135C>T (n.*1135C>T)
n.4778C>T
n.3379C>T
c.3890C>T (p.Pro1297Leu)
c.3938C>T (p.Pro1313Leu)
c.3998C>T (p.Pro1333Leu)
c.3548C>T (p.Pro1183Leu)
c.1850C>T (p.Pro617Leu)
c.1667C>T (p.Pro556Leu)
c.3899C>T (p.Pro1300Leu)
c.3851C>T (p.Pro1284Leu)
c.3620C>T (p.Pro1207Leu)
c.3521C>T (p.Pro1174Leu)
c.2702C>T (p.Pro901Leu)
n.4253C>T

Number of alleles fetched