Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.51934919T>A | CA388019459 | ATP7B | c.*1885A>T (n.*1885A>T) c.*2979A>T (n.*2979A>T) c.3614A>T (p.Asp1205Val) c.4235A>T (p.Asp1412Val) c.3902A>T (p.Asp1301Val) c.3983A>T (p.Asp1328Val) n.1558A>T c.4001A>T (p.Asp1334Val) n.4374A>T n.1101A>T c.3170A>T (p.Asp1057Val) c.2945A>T (p.Asp982Val) c.4040A>T (p.Asp1347Val) c.2013A>T c.*1336A>T (n.*1336A>T) n.4979A>T n.3580A>T c.4091A>T (p.Asp1364Val) c.4139A>T (p.Asp1380Val) c.4199A>T (p.Asp1400Val) c.3749A>T (p.Asp1250Val) c.2051A>T (p.Asp684Val) c.1868A>T (p.Asp623Val) c.4100A>T (p.Asp1367Val) c.4052A>T (p.Asp1351Val) c.3821A>T (p.Asp1274Val) c.3722A>T (p.Asp1241Val) c.2903A>T (p.Asp968Val) n.4454A>T | |
13 | g.51934919T>C | CA388019464 | ATP7B | c.*1885A>G (n.*1885A>G) c.*2979A>G (n.*2979A>G) c.3614A>G (p.Asp1205Gly) c.4235A>G (p.Asp1412Gly) c.3902A>G (p.Asp1301Gly) c.3983A>G (p.Asp1328Gly) n.1558A>G c.4001A>G (p.Asp1334Gly) n.4374A>G n.1101A>G c.3170A>G (p.Asp1057Gly) c.2945A>G (p.Asp982Gly) c.4040A>G (p.Asp1347Gly) c.2013A>G c.*1336A>G (n.*1336A>G) n.4979A>G n.3580A>G c.4091A>G (p.Asp1364Gly) c.4139A>G (p.Asp1380Gly) c.4199A>G (p.Asp1400Gly) c.3749A>G (p.Asp1250Gly) c.2051A>G (p.Asp684Gly) c.1868A>G (p.Asp623Gly) c.4100A>G (p.Asp1367Gly) c.4052A>G (p.Asp1351Gly) c.3821A>G (p.Asp1274Gly) c.3722A>G (p.Asp1241Gly) c.2903A>G (p.Asp968Gly) n.4454A>G | |
13 | g.51934919T>G | CA388019461 | ATP7B | c.*1885A>C (n.*1885A>C) c.*2979A>C (n.*2979A>C) c.3614A>C (p.Asp1205Ala) c.4235A>C (p.Asp1412Ala) c.3902A>C (p.Asp1301Ala) c.3983A>C (p.Asp1328Ala) n.1558A>C c.4001A>C (p.Asp1334Ala) n.4374A>C n.1101A>C c.3170A>C (p.Asp1057Ala) c.2945A>C (p.Asp982Ala) c.4040A>C (p.Asp1347Ala) c.2013A>C c.*1336A>C (n.*1336A>C) n.4979A>C n.3580A>C c.4091A>C (p.Asp1364Ala) c.4139A>C (p.Asp1380Ala) c.4199A>C (p.Asp1400Ala) c.3749A>C (p.Asp1250Ala) c.2051A>C (p.Asp684Ala) c.1868A>C (p.Asp623Ala) c.4100A>C (p.Asp1367Ala) c.4052A>C (p.Asp1351Ala) c.3821A>C (p.Asp1274Ala) c.3722A>C (p.Asp1241Ala) c.2903A>C (p.Asp968Ala) n.4454A>C | |
13 | g.51934920C>A | CA388019467 | ATP7B | c.*1884G>T (n.*1884G>T) c.*2978G>T (n.*2978G>T) c.3613G>T (p.Asp1205Tyr) c.4234G>T (p.Asp1412Tyr) c.3901G>T (p.Asp1301Tyr) c.3982G>T (p.Asp1328Tyr) n.1557G>T c.4000G>T (p.Asp1334Tyr) n.4373G>T n.1100G>T c.3169G>T (p.Asp1057Tyr) c.2944G>T (p.Asp982Tyr) c.4039G>T (p.Asp1347Tyr) c.2012G>T c.*1335G>T (n.*1335G>T) n.4978G>T n.3579G>T c.4090G>T (p.Asp1364Tyr) c.4138G>T (p.Asp1380Tyr) c.4198G>T (p.Asp1400Tyr) c.3748G>T (p.Asp1250Tyr) c.2050G>T (p.Asp684Tyr) c.1867G>T (p.Asp623Tyr) c.4099G>T (p.Asp1367Tyr) c.4051G>T (p.Asp1351Tyr) c.3820G>T (p.Asp1274Tyr) c.3721G>T (p.Asp1241Tyr) c.2902G>T (p.Asp968Tyr) n.4453G>T | |
13 | g.51934920C>G | CA388019470 | ATP7B | c.*1884G>C (n.*1884G>C) c.*2978G>C (n.*2978G>C) c.3613G>C (p.Asp1205His) c.4234G>C (p.Asp1412His) c.3901G>C (p.Asp1301His) c.3982G>C (p.Asp1328His) n.1557G>C c.4000G>C (p.Asp1334His) n.4373G>C n.1100G>C c.3169G>C (p.Asp1057His) c.2944G>C (p.Asp982His) c.4039G>C (p.Asp1347His) c.2012G>C c.*1335G>C (n.*1335G>C) n.4978G>C n.3579G>C c.4090G>C (p.Asp1364His) c.4138G>C (p.Asp1380His) c.4198G>C (p.Asp1400His) c.3748G>C (p.Asp1250His) c.2050G>C (p.Asp684His) c.1867G>C (p.Asp623His) c.4099G>C (p.Asp1367His) c.4051G>C (p.Asp1351His) c.3820G>C (p.Asp1274His) c.3721G>C (p.Asp1241His) c.2902G>C (p.Asp968His) n.4453G>C | |
13 | g.51934920C>T | CA388019472 | ATP7B | c.*1884G>A (n.*1884G>A) c.*2978G>A (n.*2978G>A) c.3613G>A (p.Asp1205Asn) c.4234G>A (p.Asp1412Asn) c.3901G>A (p.Asp1301Asn) c.3982G>A (p.Asp1328Asn) n.1557G>A c.4000G>A (p.Asp1334Asn) n.4373G>A n.1100G>A c.3169G>A (p.Asp1057Asn) c.2944G>A (p.Asp982Asn) c.4039G>A (p.Asp1347Asn) c.2012G>A c.*1335G>A (n.*1335G>A) n.4978G>A n.3579G>A c.4090G>A (p.Asp1364Asn) c.4138G>A (p.Asp1380Asn) c.4198G>A (p.Asp1400Asn) c.3748G>A (p.Asp1250Asn) c.2050G>A (p.Asp684Asn) c.1867G>A (p.Asp623Asn) c.4099G>A (p.Asp1367Asn) c.4051G>A (p.Asp1351Asn) c.3820G>A (p.Asp1274Asn) c.3721G>A (p.Asp1241Asn) c.2902G>A (p.Asp968Asn) n.4453G>A | COSMIC |
13 | g.51934921C>A | CA484024179 | ATP7B | c.*1883G>T (n.*1883G>T) c.*2977G>T (n.*2977G>T) c.3612G>T (p.Arg1204=) c.4233G>T (p.Arg1411=) c.3900G>T (p.Arg1300=) c.3981G>T (p.Arg1327=) n.1556G>T c.3999G>T (p.Arg1333=) n.4372G>T n.1099G>T c.3168G>T (p.Arg1056=) c.2943G>T (p.Arg981=) c.4038G>T (p.Arg1346=) c.2011G>T c.*1334G>T (n.*1334G>T) n.4977G>T n.3578G>T c.4089G>T (p.Arg1363=) c.4137G>T (p.Arg1379=) c.4197G>T (p.Arg1399=) c.3747G>T (p.Arg1249=) c.2049G>T (p.Arg683=) c.1866G>T (p.Arg622=) c.4098G>T (p.Arg1366=) c.4050G>T (p.Arg1350=) c.3819G>T (p.Arg1273=) c.3720G>T (p.Arg1240=) c.2901G>T (p.Arg967=) n.4452G>T | dbSNP gnomAD v4 |
13 | g.51934921C>G | CA484024180 | ATP7B | c.*1883G>C (n.*1883G>C) c.*2977G>C (n.*2977G>C) c.3612G>C (p.Arg1204=) c.4233G>C (p.Arg1411=) c.3900G>C (p.Arg1300=) c.3981G>C (p.Arg1327=) n.1556G>C c.3999G>C (p.Arg1333=) n.4372G>C n.1099G>C c.3168G>C (p.Arg1056=) c.2943G>C (p.Arg981=) c.4038G>C (p.Arg1346=) c.2011G>C c.*1334G>C (n.*1334G>C) n.4977G>C n.3578G>C c.4089G>C (p.Arg1363=) c.4137G>C (p.Arg1379=) c.4197G>C (p.Arg1399=) c.3747G>C (p.Arg1249=) c.2049G>C (p.Arg683=) c.1866G>C (p.Arg622=) c.4098G>C (p.Arg1366=) c.4050G>C (p.Arg1350=) c.3819G>C (p.Arg1273=) c.3720G>C (p.Arg1240=) c.2901G>C (p.Arg967=) n.4452G>C | |
13 | g.51934921C>T | CA484024181 | ATP7B | c.*1883G>A (n.*1883G>A) c.*2977G>A (n.*2977G>A) c.3612G>A (p.Arg1204=) c.4233G>A (p.Arg1411=) c.3900G>A (p.Arg1300=) c.3981G>A (p.Arg1327=) n.1556G>A c.3999G>A (p.Arg1333=) n.4372G>A n.1099G>A c.3168G>A (p.Arg1056=) c.2943G>A (p.Arg981=) c.4038G>A (p.Arg1346=) c.2011G>A c.*1334G>A (n.*1334G>A) n.4977G>A n.3578G>A c.4089G>A (p.Arg1363=) c.4137G>A (p.Arg1379=) c.4197G>A (p.Arg1399=) c.3747G>A (p.Arg1249=) c.2049G>A (p.Arg683=) c.1866G>A (p.Arg622=) c.4098G>A (p.Arg1366=) c.4050G>A (p.Arg1350=) c.3819G>A (p.Arg1273=) c.3720G>A (p.Arg1240=) c.2901G>A (p.Arg967=) n.4452G>A | |
13 | g.51934922C>A | CA388019474 | ATP7B | c.*1882G>T (n.*1882G>T) c.*2976G>T (n.*2976G>T) c.3611G>T (p.Arg1204Leu) c.4232G>T (p.Arg1411Leu) c.3899G>T (p.Arg1300Leu) c.3980G>T (p.Arg1327Leu) n.1555G>T c.3998G>T (p.Arg1333Leu) n.4371G>T n.1098G>T c.3167G>T (p.Arg1056Leu) c.2942G>T (p.Arg981Leu) c.4037G>T (p.Arg1346Leu) c.2010G>T c.*1333G>T (n.*1333G>T) n.4976G>T n.3577G>T c.4088G>T (p.Arg1363Leu) c.4136G>T (p.Arg1379Leu) c.4196G>T (p.Arg1399Leu) c.3746G>T (p.Arg1249Leu) c.2048G>T (p.Arg683Leu) c.1865G>T (p.Arg622Leu) c.4097G>T (p.Arg1366Leu) c.4049G>T (p.Arg1350Leu) c.3818G>T (p.Arg1273Leu) c.3719G>T (p.Arg1240Leu) c.2900G>T (p.Arg967Leu) n.4451G>T | |
13 | g.51934922C= | CA2091550420 | ATP7B | c.*1882G= (n.*1882G=) c.*2976G= (n.*2976G=) c.3611G= (p.Arg1204=) c.4232G= (p.Arg1411=) c.3899G= (p.Arg1300=) c.3980G= (p.Arg1327=) n.1555G= c.3998G= (p.Arg1333=) n.4371G= n.1098G= c.3167G= (p.Arg1056=) c.2942G= (p.Arg981=) c.4037G= (p.Arg1346=) c.2010G= c.*1333G= (n.*1333G=) n.4976G= n.3577G= c.4088G= (p.Arg1363=) c.4136G= (p.Arg1379=) c.4196G= (p.Arg1399=) c.3746G= (p.Arg1249=) c.2048G= (p.Arg683=) c.1865G= (p.Arg622=) c.4097G= (p.Arg1366=) c.4049G= (p.Arg1350=) c.3818G= (p.Arg1273=) c.3719G= (p.Arg1240=) c.2900G= (p.Arg967=) n.4451G= | |
13 | g.51934922C>G | CA388019476 | ATP7B | c.*1882G>C (n.*1882G>C) c.*2976G>C (n.*2976G>C) c.3611G>C (p.Arg1204Pro) c.4232G>C (p.Arg1411Pro) c.3899G>C (p.Arg1300Pro) c.3980G>C (p.Arg1327Pro) n.1555G>C c.3998G>C (p.Arg1333Pro) n.4371G>C n.1098G>C c.3167G>C (p.Arg1056Pro) c.2942G>C (p.Arg981Pro) c.4037G>C (p.Arg1346Pro) c.2010G>C c.*1333G>C (n.*1333G>C) n.4976G>C n.3577G>C c.4088G>C (p.Arg1363Pro) c.4136G>C (p.Arg1379Pro) c.4196G>C (p.Arg1399Pro) c.3746G>C (p.Arg1249Pro) c.2048G>C (p.Arg683Pro) c.1865G>C (p.Arg622Pro) c.4097G>C (p.Arg1366Pro) c.4049G>C (p.Arg1350Pro) c.3818G>C (p.Arg1273Pro) c.3719G>C (p.Arg1240Pro) c.2900G>C (p.Arg967Pro) n.4451G>C | gnomAD v4 |
13 | g.51934922C>T | CA6988451 | ATP7B | c.*1882G>A (n.*1882G>A) c.*2976G>A (n.*2976G>A) c.3611G>A (p.Arg1204Gln) c.4232G>A (p.Arg1411Gln) c.3899G>A (p.Arg1300Gln) c.3980G>A (p.Arg1327Gln) n.1555G>A c.3998G>A (p.Arg1333Gln) n.4371G>A n.1098G>A c.3167G>A (p.Arg1056Gln) c.2942G>A (p.Arg981Gln) c.4037G>A (p.Arg1346Gln) c.2010G>A c.*1333G>A (n.*1333G>A) n.4976G>A n.3577G>A c.4088G>A (p.Arg1363Gln) c.4136G>A (p.Arg1379Gln) c.4196G>A (p.Arg1399Gln) c.3746G>A (p.Arg1249Gln) c.2048G>A (p.Arg683Gln) c.1865G>A (p.Arg622Gln) c.4097G>A (p.Arg1366Gln) c.4049G>A (p.Arg1350Gln) c.3818G>A (p.Arg1273Gln) c.3719G>A (p.Arg1240Gln) c.2900G>A (p.Arg967Gln) n.4451G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.51934923G>A | CA250071636 | ATP7B | c.*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 |
13 | g.51934923G>C | CA388019479 | ATP7B | c.*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 |
13 | g.51934923G= | CA2091550424 | ATP7B | c.*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= | |
13 | g.51934923G>T | CA484024182 | ATP7B | c.*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 | |
13 | g.51934924C>A | CA388019482 | ATP7B | c.*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 | |
13 | g.51934924C>G | CA388019485 | ATP7B | c.*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 | |
13 | g.51934924C>T | CA388019487 | ATP7B | c.*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 |
13 | g.51934925C>A | CA388019489 | ATP7B | c.*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 | |
13 | g.51934925C>G | CA388019491 | ATP7B | c.*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 | |
13 | g.51934925C>T | CA388019493 | ATP7B | c.*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 |
13 | g.51934926A= | CA2091550428 | ATP7B | c.*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= | |
13 | g.51934926A>C | CA6988452 | ATP7B | c.*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 |
13 | g.51934926A>G | CA388019498 | ATP7B | c.*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 |
13 | g.51934926A>T | CA388019497 | ATP7B | c.*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 | |
13 | g.51934927C>A | CA250071648 | ATP7B | c.*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 |
13 | g.51934927C= | CA2091550431 | ATP7B | c.*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= | |
13 | g.51934927C>G | CA388019502 | ATP7B | c.*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 | |
13 | g.51934927C>T | CA484024183 | ATP7B | c.*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 |
13 | g.51934928C>A | CA388019504 | ATP7B | c.*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 | |
13 | g.51934928C>G | CA388019506 | ATP7B | c.*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 |
13 | g.51934928C>T | CA388019509 | ATP7B | c.*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 | |
13 | g.51934929T>A | CA388019512 | ATP7B | c.*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 | |
13 | g.51934929T>C | CA388019513 | ATP7B | c.*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 | |
13 | g.51934929T>G | CA6988453 | ATP7B | c.*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 |
13 | g.51934929T= | CA2091550436 | ATP7B | c.*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= | |
13 | g.51934930G>A | CA484024184 | ATP7B | c.*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 |
13 | g.51934930G>C | CA388019516 | ATP7B | c.*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 | |
13 | g.51934930G>T | CA388019518 | ATP7B | c.*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 | |
13 | g.51934931T>A | CA388019528 | ATP7B | c.*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 | |
13 | g.51934931T>C | CA388019524 | ATP7B | c.*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 | |
13 | g.51934931T>G | CA388019521 | ATP7B | c.*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 | |
13 | g.51934932C>A | CA388019532 | ATP7B | c.*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 | |
13 | g.51934932C= | CA2091550439 | ATP7B | c.*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= | |
13 | g.51934932C>G | CA388019535 | ATP7B | c.*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 | |
13 | g.51934932C>T | CA388019536 | ATP7B | c.*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 |
13 | g.51934933A= | CA2091550441 | ATP7B | c.*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= | |
13 | g.51934933A>C | CA388019538 | ATP7B | c.*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 | |
13 | g.51934933A>G | CA484024185 | ATP7B | c.*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 | |
13 | g.51934933A>T | CA171328 | ATP7B | c.*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 |
13 | g.51934934T>A | CA388019543 | ATP7B | c.*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 | |
13 | g.51934934T>C | CA388019542 | ATP7B | c.*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 |
13 | g.51934934T>G | CA388019540 | ATP7B | c.*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 | |
13 | g.51934934T= | CA2091550445 | ATP7B | c.*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= | |
13 | g.51934935C>A | CA388019545 | ATP7B | c.*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 |
13 | g.51934935C>G | CA388019546 | ATP7B | c.*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 | |
13 | g.51934935C>T | CA388019547 | ATP7B | c.*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 | |
13 | g.51934936C>A | CA388019548 | ATP7B | c.*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 | |
13 | g.51934936C= | CA2091550447 | ATP7B | c.*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= | |
13 | g.51934936C>G | CA388019550 | ATP7B | c.*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 | |
13 | g.51934936C>T | CA388019552 | ATP7B | c.*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 |
13 | g.51934937A>C | CA388019554 | ATP7B | c.*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 | |
13 | g.51934937A>G | CA388019556 | ATP7B | c.*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 | |
13 | g.51934937A>T | CA388019555 | ATP7B | c.*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 | |
13 | g.51934938T>A | CA388019557 | ATP7B | c.*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 | |
13 | g.51934938T>C | CA388019558 | ATP7B | c.*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 | |
13 | g.51934938T>G | CA388019559 | ATP7B | c.*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 | |
13 | g.51934939G>A | CA6988454 | ATP7B | c.*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 |
13 | g.51934939G>C | CA484024186 | ATP7B | c.*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 | |
13 | g.51934939G= | CA2091550451 | ATP7B | c.*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= | |
13 | g.51934939G>T | CA484024187 | ATP7B | c.*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 | |
13 | g.51934940C>A | CA388019562 | ATP7B | c.*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 | |
13 | g.51934940C>G | CA388019563 | ATP7B | c.*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 |
13 | g.51934940C>T | CA388019564 | ATP7B | c.*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 | |
13 | g.51934941C>A | CA388019566 | ATP7B | c.*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 | |
13 | g.51934941C= | CA2091550460 | ATP7B | c.*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= | |
13 | g.51934941C>G | CA388019568 | ATP7B | c.*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 | |
13 | g.51934941C>T | CA6988455 | ATP7B | c.*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 |
13 | g.51934942T>A | CA484024188 | ATP7B | c.*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 |
13 | g.51934942T>C | CA388019569 | ATP7B | c.*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 |
13 | g.51934942T>G | CA484024189 | ATP7B | c.*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 | |
13 | g.51934942T= | CA2091550464 | ATP7B | c.*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= | |
13 | g.51934943A>C | CA388019573 | ATP7B | c.*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 | |
13 | g.51934943A>G | CA388019571 | ATP7B | c.*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 |
13 | g.51934943A>T | CA388019572 | ATP7B | c.*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 | |
13 | g.51934944T>A | CA388019574 | ATP7B | c.*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 | |
13 | g.51934944T>C | CA388019576 | ATP7B | c.*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 | |
13 | g.51934944T>G | CA388019575 | ATP7B | c.*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 | |
13 | g.51934945G>A | CA484024190 | ATP7B | c.*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 |
13 | g.51934945G>C | CA388019578 | ATP7B | c.*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 | |
13 | g.51934945G= | CA2091550466 | ATP7B | c.*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= | |
13 | g.51934945G>T | CA388019579 | ATP7B | c.*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 |
13 | g.51934946T>A | CA388019581 | ATP7B | c.*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 | |
13 | g.51934946T>C | CA388019582 | ATP7B | c.*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 | |
13 | g.51934946T>G | CA388019584 | ATP7B | c.*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 |
13 | g.51934946T= | CA2091550469 | ATP7B | c.*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= | |
13 | g.51934947G>A | CA6988456 | ATP7B | c.*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 |
13 | g.51934947G>C | CA388019586 | ATP7B | c.*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 | |
13 | g.51934947G= | CA2091550472 | ATP7B | c.*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= | |
13 | g.51934947G>T | CA388019587 | ATP7B | c.*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 |
13 | g.51934948C>A | CA484024191 | ATP7B | c.*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 |
13 | g.51934948C= | CA2091550476 | ATP7B | c.*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= | |
13 | g.51934948C>G | CA250071667 | ATP7B | c.*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 |
13 | g.51934948C>T | CA484024192 | ATP7B | c.*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 |
13 | g.51934949A>C | CA388019589 | ATP7B | c.*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 | |
13 | g.51934949A>G | CA388019591 | ATP7B | c.*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 |
13 | g.51934949A>T | CA388019593 | ATP7B | c.*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 | |
13 | g.51934949dup | CA610425746 | ATP7B | c.*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 |
13 | g.51934950C>A | CA388019595 | ATP7B | c.*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 | |
13 | g.51934950C>G | CA388019597 | ATP7B | c.*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 | |
13 | g.51934950C>T | CA388019598 | ATP7B | c.*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 | |
13 | g.51934951A>C | CA388019600 | ATP7B | c.*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 | |
13 | g.51934951A>G | CA484024193 | ATP7B | c.*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 | |
13 | g.51934951A>T | CA388019602 | ATP7B | c.*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 | |
13 | g.51934952C>A | CA388019603 | ATP7B | c.*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 | |
13 | g.51934952C= | CA2091550480 | ATP7B | c.*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= | |
13 | g.51934952C>G | CA388019605 | ATP7B | c.*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 | |
13 | g.51934952C>T | CA388019606 | ATP7B | c.*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 |
13 | g.51934953T>A | CA388019607 | ATP7B | c.*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 | |
13 | g.51934953T>C | CA388019608 | ATP7B | c.*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 |
13 | g.51934953T>G | CA388019609 | ATP7B | c.*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 | |
13 | g.51934954G>A | CA484024194 | ATP7B | c.*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 |
13 | g.51934954G>C | CA484024195 | ATP7B | c.*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 |
13 | g.51934954G>T | CA484024196 | ATP7B | c.*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 |
13 | g.51934955A>C | CA388019610 | ATP7B | c.*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 | |
13 | g.51934955A>G | CA388019611 | ATP7B | c.*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 | |
13 | g.51934955A>T | CA388019612 | ATP7B | c.*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 | |
13 | g.51934956C>A | CA388019613 | ATP7B | c.*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 | |
13 | g.51934956C= | CA2091550484 | ATP7B | c.*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= | |
13 | g.51934956C>G | CA6988457 | ATP7B | c.*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 |
13 | g.51934956C>T | CA388019615 | ATP7B | c.*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 | |
13 | g.51934957del | CA2695199756 | ATP7B | c.*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 |
13 | g.51934957C>A | CA388019617 | ATP7B | c.*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 | |
13 | g.51934957C>G | CA388019618 | ATP7B | c.*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 | |
13 | g.51934957C>T | CA484024197 | ATP7B | c.*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 |
13 | g.51934958T>A | CA388019620 | ATP7B | c.*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 | |
13 | g.51934958T>C | CA388019622 | ATP7B | c.*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 | |
13 | g.51934958T>G | CA388019624 | ATP7B | c.*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 | |
13 | g.51934958_51934959delinsTG | CA2091550489 | ATP7B | c.*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 | |
13 | g.51934958_51934961dup | CA2695218703 | ATP7B | c.*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 | |
13 | g.51934959G>A | CA388019625 | ATP7B | c.*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 |
13 | g.51934959G>C | CA388019626 | ATP7B | c.*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 | |
13 | g.51934959G>T | CA388019627 | ATP7B | c.*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 | |
13 | g.51934961del | CA10603190 | ATP7B | c.*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 |
13 | g.51934960G>A | CA484024198 | ATP7B | c.*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 |
13 | g.51934960G>C | CA484024199 | ATP7B | c.*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 |
13 | g.51934960G>T | CA484024200 | ATP7B | c.*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 |
13 | g.51934961G>A | CA388019628 | ATP7B | c.*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 |
13 | g.51934961G>C | CA6988458 | ATP7B | c.*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 |
13 | g.51934961G= | CA2091550498 | ATP7B | c.*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= | |
13 | g.51934961G>T | CA388019630 | ATP7B | c.*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 | |
13 | g.51934962A>C | CA388019632 | ATP7B | c.*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 | |
13 | g.51934962A>G | CA388019634 | ATP7B | c.*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 | |
13 | g.51934962A>T | CA388019636 | ATP7B | c.*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 |
13 | g.51934963T>A | CA484024201 | ATP7B | c.*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 | |
13 | g.51934963T>C | CA484024202 | ATP7B | c.*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 |
13 | g.51934963T>G | CA484024203 | ATP7B | c.*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 | |
13 | g.51934964G>A | CA388019639 | ATP7B | c.*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 |
13 | g.51934964G>C | CA388019637 | ATP7B | c.*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 | |
13 | g.51934964G>T | CA388019638 | ATP7B | c.*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 |
13 | g.51934965C>A | CA388019641 | ATP7B | c.*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 | |
13 | g.51934965C= | CA2091550501 | ATP7B | c.*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= | |
13 | g.51934965C>G | CA388019642 | ATP7B | c.*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 | |
13 | g.51934965C>T | CA388019643 | ATP7B | c.*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 |
13 | g.51934966C>A | CA484024204 | ATP7B | c.*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 | |
13 | g.51934966C= | CA2091550505 | ATP7B | c.*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= | |
13 | g.51934966C>G | CA484024205 | ATP7B | c.*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 | |
13 | g.51934966C>T | CA6988459 | ATP7B | c.*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 |
13 | g.51934967G>A | CA250071700 | ATP7B | c.*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 |
13 | g.51934967G>C | CA388019646 | ATP7B | c.*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 |
13 | g.51934967G= | CA2091550509 | ATP7B | c.*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= | |
13 | g.51934967G>T | CA388019648 | ATP7B | c.*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 |
13 | g.51934968T>A | CA388019650 | ATP7B | c.*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 | |
13 | g.51934968T>C | CA388019652 | ATP7B | c.*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 | |
13 | g.51934968T>G | CA388019654 | ATP7B | c.*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 | |
13 | g.51934969C>A | CA484024206 | ATP7B | c.*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 |
13 | g.51934969C= | CA2091550515 | ATP7B | c.*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= | |
13 | g.51934969C>G | CA10644746 | ATP7B | c.*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 |
13 | g.51934969C>T | CA6988460 | ATP7B | c.*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 |
13 | g.51934970A>C | CA388019660 | ATP7B | c.*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 | |
13 | g.51934970A>G | CA388019657 | ATP7B | c.*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 | |
13 | g.51934970A>T | CA388019658 | ATP7B | c.*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 | |
13 | g.51934971G>A | CA484024207 | ATP7B | c.*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 |
13 | g.51934971G>C | CA388019661 | ATP7B | c.*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 | |
13 | g.51934971G= | CA2091550521 | ATP7B | c.*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= | |
13 | g.51934971G>T | CA388019663 | ATP7B | c.*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 | |
13 | g.51934974dup | CA2695218704 | ATP7B | c.*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 | |
13 | g.51934972G>A | CA484024208 | ATP7B | c.*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 |
13 | g.51934972G>C | CA484024210 | ATP7B | c.*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 |
13 | g.51934972G>T | CA484024209 | ATP7B | c.*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 |
13 | g.51934973G>A | CA388019664 | ATP7B | c.*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 |
13 | g.51934973G>C | CA250071716 | ATP7B | c.*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 |
13 | g.51934973G= | CA2091550523 | ATP7B | c.*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= | |
13 | g.51934973G>T | CA388019667 | ATP7B | c.*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 | |
13 | g.51934974G>A | CA388019669 | ATP7B | c.*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 |
13 | g.51934974G>C | CA388019670 | ATP7B | c.*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 | |
13 | g.51934974G= | CA2091550526 | ATP7B | c.*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= | |
13 | g.51934974G>T | CA388019671 | ATP7B | c.*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 | |
13 | g.51934975C>A | CA388019672 | ATP7B | c.*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 | |
13 | g.51934975C>G | CA388019673 | ATP7B | c.*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 | |
13 | g.51934975C>T | CA484024211 | ATP7B | c.*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 | |
13 | g.51934976T>A | CA388019674 | ATP7B | c.*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 | |
13 | g.51934976T>C | CA388019675 | ATP7B | c.*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 |
13 | g.51934976T>G | CA388019676 | ATP7B | c.*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 | |
13 | g.51934977T>A | CA388019679 | ATP7B | c.*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 | |
13 | g.51934977T>C | CA388019678 | ATP7B | c.*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 |
13 | g.51934977T>G | CA388019677 | ATP7B | c.*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 | |
13 | g.51934977T= | CA2091550531 | ATP7B | c.*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= | |
13 | g.51934978C>A | CA388019680 | ATP7B | c.*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 | |
13 | g.51934978C>G | CA388019681 | ATP7B | c.*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 | |
13 | g.51934978C>T | CA388019682 | ATP7B | c.*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 | |
13 | g.51934978dup | CA2695218705 | ATP7B | c.*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 | |
13 | g.51934979A= | CA2091550535 | ATP7B | c.*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= | |
13 | g.51934979A>C | CA6988461 | ATP7B | c.*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 |
13 | g.51934979A>G | CA6988462 | ATP7B | c.*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 |
13 | g.51934979A>T | CA388019683 | ATP7B | c.*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 | |
13 | g.51934980T>A | CA388019684 | ATP7B | c.*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 |
13 | g.51934980T>C | CA6988463 | ATP7B | c.*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 |
13 | g.51934980T>G | CA388019685 | ATP7B | c.*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 |
13 | g.51934980T= | CA2091550541 | ATP7B | c.*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= | |
13 | g.51934981G>A | CA484024212 | ATP7B | c.*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 | |
13 | g.51934981G>C | CA388019686 | ATP7B | c.*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 | |
13 | g.51934981G>T | CA388019687 | ATP7B | c.*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 | |
13 | g.51934982T>A | CA388019688 | ATP7B | c.*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 | |
13 | g.51934982T>C | CA388019689 | ATP7B | c.*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 | |
13 | g.51934982T>G | CA388019690 | ATP7B | c.*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 | |
13 | g.51934983G>A | CA388019692 | ATP7B | c.*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 | |
13 | g.51934983G>C | CA388019693 | ATP7B | c.*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 | |
13 | g.51934983G>T | CA388019691 | ATP7B | c.*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 | |
13 | g.51934984G>A | CA484024213 | ATP7B | c.*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 |
13 | g.51934984G>C | CA484024215 | ATP7B | c.*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 | |
13 | g.51934984G= | CA2091550543 | ATP7B | c.*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= | |
13 | g.51934984G>T | CA484024214 | ATP7B | c.*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 |
13 | g.51934985C>A | CA388019694 | ATP7B | c.*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 | |
13 | g.51934985C>G | CA388019695 | ATP7B | c.*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 | |
13 | g.51934985C>T | CA388019696 | ATP7B | c.*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 |
13 | g.51934986C>A | CA388019697 | ATP7B | c.*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 | |
13 | g.51934986C>G | CA388019698 | ATP7B | c.*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 | |
13 | g.51934986C>T | CA388019699 | ATP7B | c.*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 |
13 | g.51934987A= | CA2091550548 | ATP7B | c.*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= | |
13 | g.51934987A>C | CA388019700 | ATP7B | c.*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 |
13 | g.51934987A>G | CA6988464 | ATP7B | c.*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 |
13 | g.51934987A>T | CA388019701 | ATP7B | c.*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 | |
13 | g.51934987dup | CA2695218706 | ATP7B | c.*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 | |
13 | g.51934988T>A | CA388019702 | ATP7B | c.*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 | |
13 | g.51934988T>C | CA388019703 | ATP7B | c.*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 |
13 | g.51934988T>G | CA388019704 | ATP7B | c.*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 | |
13 | g.51934988T= | CA2091550553 | ATP7B | c.*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= | |
13 | g.51934989G>A | CA388019707 | ATP7B | c.*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 |
13 | g.51934989G>C | CA388019706 | ATP7B | c.*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 | |
13 | g.51934989G>T | CA388019705 | ATP7B | c.*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 | |
13 | g.51934990C>A | CA250071731 | ATP7B | c.*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 |
13 | g.51934990C= | CA2091550560 | ATP7B | c.*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= | |
13 | g.51934990C>G | CA484024216 | ATP7B | c.*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 | |
13 | g.51934990C>T | CA6988465 | ATP7B | c.*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 |
13 | g.51934991G>A | CA6988466 | ATP7B | c.*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 |
13 | g.51934991G>C | CA388019708 | ATP7B | c.*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 | |
13 | g.51934991G= | CA2091550563 | ATP7B | c.*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= | |
13 | g.51934991G>T | CA388019709 | ATP7B | c.*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 | |
13 | g.51934992C>A | CA388019710 | ATP7B | c.*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 | |
13 | g.51934992C= | CA2091550567 | ATP7B | c.*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= | |
13 | g.51934992C>G | CA388019711 | ATP7B | c.*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 | |
13 | g.51934992C>T | CA6988467 | ATP7B | c.*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 |
13 | g.51934993del | CA2695218707 | ATP7B | c.*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 | |
13 | g.51934993C>A | CA388019712 | ATP7B | c.*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 | |
13 | g.51934993C>G | CA388019714 | ATP7B | c.*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 | |
13 | g.51934993C>T | CA484024217 | ATP7B | c.*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 |
13 | g.51934994T>A | CA388019716 | ATP7B | c.*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 | |
13 | g.51934994T>C | CA388019718 | ATP7B | c.*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 | |
13 | g.51934994T>G | CA388019719 | ATP7B | c.*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 | |
13 | g.51934995G>A | CA388019720 | ATP7B | c.*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 | |
13 | g.51934995G>C | CA388019722 | ATP7B | c.*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 |
13 | g.51934995G>T | CA388019721 | ATP7B | c.*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 | |
13 | g.51934996T>A | CA484024218 | ATP7B | c.*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 | |
13 | g.51934996T>C | CA484024219 | ATP7B | c.*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 |
13 | g.51934996T>G | CA484024220 | ATP7B | c.*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 | |
13 | g.51934996T= | CA2091550570 | ATP7B | c.*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= | |
13 | g.51934997G>A | CA388019724 | ATP7B | c.*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 |
13 | g.51934997G>C | CA388019726 | ATP7B | c.*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 | |
13 | g.51934997G= | CA2091550572 | ATP7B | c.*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= | |
13 | g.51934997G>T | CA388019728 | ATP7B | c.*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 | |
13 | g.51934998C>A | CA388019730 | ATP7B | c.*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 | |
13 | g.51934998C>G | CA388019731 | ATP7B | c.*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 | |
13 | g.51934998C>T | CA388019733 | ATP7B | c.*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 |
13 | g.51934999C>A | CA388019735 | ATP7B | c.*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 | |
13 | g.51934999C>G | CA388019737 | ATP7B | c.*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 | |
13 | g.51934999C>T | CA484024221 | ATP7B | c.*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 |
13 | g.51935000T>A | CA388019738 | ATP7B | c.*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 |
13 | g.51935000T>C | CA388019742 | ATP7B | c.*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 | |
13 | g.51935000T>G | CA388019740 | ATP7B | c.*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 | |
13 | g.51935001C>A | CA388019743 | ATP7B | c.*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 | |
13 | g.51935001C>G | CA388019745 | ATP7B | c.*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 | |
13 | g.51935001C>T | CA388019747 | ATP7B | c.*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 | |
13 | g.51935001dup | CA2695218708 | ATP7B | c.*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 | |
13 | g.51935002A= | CA2091550575 | ATP7B | c.*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= | |
13 | g.51935002A>C | CA388019749 | ATP7B | c.*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 |
13 | g.51935002A>G | CA484024222 | ATP7B | c.*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 |
13 | g.51935002A>T | CA388019751 | ATP7B | c.*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 | |
13 | g.51935002dup | CA2580087667 | ATP7B | c.*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 |
13 | g.51935003T>A | CA388019753 | ATP7B | c.*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 | |
13 | g.51935003T>C | CA250071748 | ATP7B | c.*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 |
13 | g.51935003T>G | CA388019755 | ATP7B | c.*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 | |
13 | g.51935003T= | CA2091550578 | ATP7B | c.*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= | |
13 | g.51935003dup | CA912974789 | ATP7B | c.*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 | |
13 | g.51935004A>C | CA388019758 | ATP7B | c.*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 | |
13 | g.51935004A>G | CA388019760 | ATP7B | c.*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 | |
13 | g.51935004A>T | CA388019761 | ATP7B | c.*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 | |
13 | g.51935004dup | CA658823691 | ATP7B | c.*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 |
13 | g.51935005C>A | CA388019763 | ATP7B | c.*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 | |
13 | g.51935005C= | CA2091550585 | ATP7B | c.*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= | |
13 | g.51935005C>G | CA388019765 | ATP7B | c.*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 | |
13 | g.51935005C>T | CA484024223 | ATP7B | c.*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 |
13 | g.51935006C>A | CA388019767 | ATP7B | c.*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 | |
13 | g.51935006C= | CA2091550587 | ATP7B | c.*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= | |
13 | g.51935006C>G | CA6988468 | ATP7B | c.*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 |
13 | g.51935006C>T | CA388019769 | ATP7B | c.*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 | |
13 | g.51935007_51935010dup | CA2697551865 | ATP7B | c.*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 |
13 | g.51935007T>A | CA388019771 | ATP7B | c.*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 | |
13 | g.51935007T>C | CA388019773 | ATP7B | c.*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 | |
13 | g.51935007T>G | CA484024224 | ATP7B | c.*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 | |
13 | g.51935008C>A | CA388019776 | ATP7B | c.*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 | |
13 | g.51935008C>G | CA388019777 | ATP7B | c.*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 | |
13 | g.51935008C>T | CA484024225 | ATP7B | c.*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 | |
13 | g.51935009T>A | CA388019779 | ATP7B | c.*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 | |
13 | g.51935009T>C | CA388019783 | ATP7B | c.*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 |
13 | g.51935009T>G | CA388019781 | ATP7B | c.*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 | |
13 | g.51935010C>A | CA388019785 | ATP7B | c.*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 |
13 | g.51935010C>G | CA388019787 | ATP7B | c.*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 | |
13 | g.51935010C>T | CA388019789 | ATP7B | c.*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 | |
13 | g.51935011C>A | CA484024226 | ATP7B | c.*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 | |
13 | g.51935011C= | CA2091550589 | ATP7B | c.*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= | |
13 | g.51935011C>G | CA484024227 | ATP7B | c.*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 |
13 | g.51935011C>T | CA6988469 | ATP7B | c.*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 |
13 | g.51935015_51935019del | CA2580618254 | ATP7B | c.*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 | |
13 | g.51935012A>C | CA388019792 | ATP7B | c.*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 | |
13 | g.51935012A>G | CA388019794 | ATP7B | c.*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 |
13 | g.51935012A>T | CA388019796 | ATP7B | c.*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 | |
13 | g.51935013G>A | CA484024228 | ATP7B | c.*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 |
13 | g.51935013G>C | CA388019798 | ATP7B | c.*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 |
13 | g.51935013G= | CA2091550591 | ATP7B | c.*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= | |
13 | g.51935013G>T | CA388019800 | ATP7B | c.*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 | |
13 | g.51935014G>A | CA484024229 | ATP7B | c.*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 |
13 | g.51935014G>C | CA388019801 | ATP7B | c.*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 | |
13 | g.51935014G>T | CA388019803 | ATP7B | c.*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 | |
13 | g.51935015T>A | CA388019805 | ATP7B | c.*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 |
13 | g.51935015T>C | CA388019807 | ATP7B | c.*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 | |
13 | g.51935015T>G | CA388019809 | ATP7B | c.*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 | |
13 | g.51935016C>A | CA388019811 | ATP7B | c.*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 | |
13 | g.51935016C= | CA2091550594 | ATP7B | c.*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= | |
13 | g.51935016C>G | CA388019814 | ATP7B | c.*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 | |
13 | g.51935016C>T | CA6988470 | ATP7B | c.*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 |
13 | g.51935017A>C | CA484024230 | ATP7B | c.*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 | |
13 | g.51935017A>G | CA484024231 | ATP7B | c.*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 | |
13 | g.51935017A>T | CA484024232 | ATP7B | c.*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 | |
13 | g.51935018G>A | CA388019816 | ATP7B | c.*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 | |
13 | g.51935018G>C | CA388019818 | ATP7B | c.*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 | |
13 | g.51935018G>T | CA388019820 | ATP7B | c.*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 | |
13 | g.51935019G>A | CA271180 | ATP7B | c.*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 |
13 | g.51935019G>C | CA388019823 | ATP7B | c.*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 | |
13 | g.51935019G= | CA2091550598 | ATP7B | c.*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= | |
13 | g.51935019G>T | CA388019825 | ATP7B | c.*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 | |
13 | g.51935019_51935022delinsGCTT | CA2091550602 | ATP7B | c.*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 |