| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51937342G>A | CA260148 | ATP7B | c.*1605C>T (n.*1605C>T) c.*2699C>T (n.*2699C>T) c.3334C>T (p.Arg1112Ter) c.3955C>T (p.Arg1319Ter) c.3622C>T (p.Arg1208Ter) c.3703C>T (p.Arg1235Ter) n.1278C>T c.3721C>T (p.Arg1241Ter) n.4094C>T n.821C>T c.2890C>T (p.Arg964Ter) c.2665C>T (p.Arg889Ter) c.3760C>T (p.Arg1254Ter) c.1733C>T c.*1056C>T (n.*1056C>T) n.4699C>T n.3300C>T c.3811C>T (p.Arg1271Ter) c.3859C>T (p.Arg1287Ter) c.3919C>T (p.Arg1307Ter) c.3469C>T (p.Arg1157Ter) c.1771C>T (p.Arg591Ter) c.1588C>T (p.Arg530Ter) c.3820C>T (p.Arg1274Ter) c.3772C>T (p.Arg1258Ter) c.3541C>T (p.Arg1181Ter) c.3442C>T (p.Arg1148Ter) c.2623C>T (p.Arg875Ter) n.4174C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.51937342G>C | CA388021090 | ATP7B | c.*1605C>G (n.*1605C>G) c.*2699C>G (n.*2699C>G) c.3334C>G (p.Arg1112Gly) c.3955C>G (p.Arg1319Gly) c.3622C>G (p.Arg1208Gly) c.3703C>G (p.Arg1235Gly) n.1278C>G c.3721C>G (p.Arg1241Gly) n.4094C>G n.821C>G c.2890C>G (p.Arg964Gly) c.2665C>G (p.Arg889Gly) c.3760C>G (p.Arg1254Gly) c.1733C>G c.*1056C>G (n.*1056C>G) n.4699C>G n.3300C>G c.3811C>G (p.Arg1271Gly) c.3859C>G (p.Arg1287Gly) c.3919C>G (p.Arg1307Gly) c.3469C>G (p.Arg1157Gly) c.1771C>G (p.Arg591Gly) c.1588C>G (p.Arg530Gly) c.3820C>G (p.Arg1274Gly) c.3772C>G (p.Arg1258Gly) c.3541C>G (p.Arg1181Gly) c.3442C>G (p.Arg1148Gly) c.2623C>G (p.Arg875Gly) n.4174C>G | ClinVar |
| 13 | g.51937342G= | CA2091553456 | ATP7B | c.*1605C= (n.*1605C=) c.*2699C= (n.*2699C=) c.3334C= (p.Arg1112=) c.3955C= (p.Arg1319=) c.3622C= (p.Arg1208=) c.3703C= (p.Arg1235=) n.1278C= c.3721C= (p.Arg1241=) n.4094C= n.821C= c.2890C= (p.Arg964=) c.2665C= (p.Arg889=) c.3760C= (p.Arg1254=) c.1733C= c.*1056C= (n.*1056C=) n.4699C= n.3300C= c.3811C= (p.Arg1271=) c.3859C= (p.Arg1287=) c.3919C= (p.Arg1307=) c.3469C= (p.Arg1157=) c.1771C= (p.Arg591=) c.1588C= (p.Arg530=) c.3820C= (p.Arg1274=) c.3772C= (p.Arg1258=) c.3541C= (p.Arg1181=) c.3442C= (p.Arg1148=) c.2623C= (p.Arg875=) n.4174C= | |
| 13 | g.51937342G>T | CA483893505 | ATP7B | c.*1605C>A (n.*1605C>A) c.*2699C>A (n.*2699C>A) c.3334C>A (p.Arg1112=) c.3955C>A (p.Arg1319=) c.3622C>A (p.Arg1208=) c.3703C>A (p.Arg1235=) n.1278C>A c.3721C>A (p.Arg1241=) n.4094C>A n.821C>A c.2890C>A (p.Arg964=) c.2665C>A (p.Arg889=) c.3760C>A (p.Arg1254=) c.1733C>A c.*1056C>A (n.*1056C>A) n.4699C>A n.3300C>A c.3811C>A (p.Arg1271=) c.3859C>A (p.Arg1287=) c.3919C>A (p.Arg1307=) c.3469C>A (p.Arg1157=) c.1771C>A (p.Arg591=) c.1588C>A (p.Arg530=) c.3820C>A (p.Arg1274=) c.3772C>A (p.Arg1258=) c.3541C>A (p.Arg1181=) c.3442C>A (p.Arg1148=) c.2623C>A (p.Arg875=) n.4174C>A | ClinVar |
| 13 | g.51937343G>A | CA483893506 | ATP7B | c.*1604C>T (n.*1604C>T) c.*2698C>T (n.*2698C>T) c.3333C>T (p.Val1111=) c.3954C>T (p.Val1318=) c.3621C>T (p.Val1207=) c.3702C>T (p.Val1234=) n.1277C>T c.3720C>T (p.Val1240=) n.4093C>T n.820C>T c.2889C>T (p.Val963=) c.2664C>T (p.Val888=) c.3759C>T (p.Val1253=) c.1732C>T c.*1055C>T (n.*1055C>T) n.4698C>T n.3299C>T c.3810C>T (p.Val1270=) c.3858C>T (p.Val1286=) c.3918C>T (p.Val1306=) c.3468C>T (p.Val1156=) c.1770C>T (p.Val590=) c.1587C>T (p.Val529=) c.3819C>T (p.Val1273=) c.3771C>T (p.Val1257=) c.3540C>T (p.Val1180=) c.3441C>T (p.Val1147=) c.2622C>T (p.Val874=) n.4173C>T | ClinVar |
| 13 | g.51937343G>C | CA483893507 | ATP7B | c.*1604C>G (n.*1604C>G) c.*2698C>G (n.*2698C>G) c.3333C>G (p.Val1111=) c.3954C>G (p.Val1318=) c.3621C>G (p.Val1207=) c.3702C>G (p.Val1234=) n.1277C>G c.3720C>G (p.Val1240=) n.4093C>G n.820C>G c.2889C>G (p.Val963=) c.2664C>G (p.Val888=) c.3759C>G (p.Val1253=) c.1732C>G c.*1055C>G (n.*1055C>G) n.4698C>G n.3299C>G c.3810C>G (p.Val1270=) c.3858C>G (p.Val1286=) c.3918C>G (p.Val1306=) c.3468C>G (p.Val1156=) c.1770C>G (p.Val590=) c.1587C>G (p.Val529=) c.3819C>G (p.Val1273=) c.3771C>G (p.Val1257=) c.3540C>G (p.Val1180=) c.3441C>G (p.Val1147=) c.2622C>G (p.Val874=) n.4173C>G | |
| 13 | g.51937343G>T | CA483893508 | ATP7B | c.*1604C>A (n.*1604C>A) c.*2698C>A (n.*2698C>A) c.3333C>A (p.Val1111=) c.3954C>A (p.Val1318=) c.3621C>A (p.Val1207=) c.3702C>A (p.Val1234=) n.1277C>A c.3720C>A (p.Val1240=) n.4093C>A n.820C>A c.2889C>A (p.Val963=) c.2664C>A (p.Val888=) c.3759C>A (p.Val1253=) c.1732C>A c.*1055C>A (n.*1055C>A) n.4698C>A n.3299C>A c.3810C>A (p.Val1270=) c.3858C>A (p.Val1286=) c.3918C>A (p.Val1306=) c.3468C>A (p.Val1156=) c.1770C>A (p.Val590=) c.1587C>A (p.Val529=) c.3819C>A (p.Val1273=) c.3771C>A (p.Val1257=) c.3540C>A (p.Val1180=) c.3441C>A (p.Val1147=) c.2622C>A (p.Val874=) n.4173C>A | ClinVar dbSNP |
| 13 | g.51937344A>C | CA388021091 | ATP7B | c.*1603T>G (n.*1603T>G) c.*2697T>G (n.*2697T>G) c.3332T>G (p.Val1111Gly) c.3953T>G (p.Val1318Gly) c.3620T>G (p.Val1207Gly) c.3701T>G (p.Val1234Gly) n.1276T>G c.3719T>G (p.Val1240Gly) n.4092T>G n.819T>G c.2888T>G (p.Val963Gly) c.2663T>G (p.Val888Gly) c.3758T>G (p.Val1253Gly) c.1731T>G c.*1054T>G (n.*1054T>G) n.4697T>G n.3298T>G c.3809T>G (p.Val1270Gly) c.3857T>G (p.Val1286Gly) c.3917T>G (p.Val1306Gly) c.3467T>G (p.Val1156Gly) c.1769T>G (p.Val590Gly) c.1586T>G (p.Val529Gly) c.3818T>G (p.Val1273Gly) c.3770T>G (p.Val1257Gly) c.3539T>G (p.Val1180Gly) c.3440T>G (p.Val1147Gly) c.2621T>G (p.Val874Gly) n.4172T>G | |
| 13 | g.51937344A>G | CA388021093 | ATP7B | c.*1603T>C (n.*1603T>C) c.*2697T>C (n.*2697T>C) c.3332T>C (p.Val1111Ala) c.3953T>C (p.Val1318Ala) c.3620T>C (p.Val1207Ala) c.3701T>C (p.Val1234Ala) n.1276T>C c.3719T>C (p.Val1240Ala) n.4092T>C n.819T>C c.2888T>C (p.Val963Ala) c.2663T>C (p.Val888Ala) c.3758T>C (p.Val1253Ala) c.1731T>C c.*1054T>C (n.*1054T>C) n.4697T>C n.3298T>C c.3809T>C (p.Val1270Ala) c.3857T>C (p.Val1286Ala) c.3917T>C (p.Val1306Ala) c.3467T>C (p.Val1156Ala) c.1769T>C (p.Val590Ala) c.1586T>C (p.Val529Ala) c.3818T>C (p.Val1273Ala) c.3770T>C (p.Val1257Ala) c.3539T>C (p.Val1180Ala) c.3440T>C (p.Val1147Ala) c.2621T>C (p.Val874Ala) n.4172T>C | gnomAD v4 |
| 13 | g.51937344A>T | CA388021095 | ATP7B | c.*1603T>A (n.*1603T>A) c.*2697T>A (n.*2697T>A) c.3332T>A (p.Val1111Asp) c.3953T>A (p.Val1318Asp) c.3620T>A (p.Val1207Asp) c.3701T>A (p.Val1234Asp) n.1276T>A c.3719T>A (p.Val1240Asp) n.4092T>A n.819T>A c.2888T>A (p.Val963Asp) c.2663T>A (p.Val888Asp) c.3758T>A (p.Val1253Asp) c.1731T>A c.*1054T>A (n.*1054T>A) n.4697T>A n.3298T>A c.3809T>A (p.Val1270Asp) c.3857T>A (p.Val1286Asp) c.3917T>A (p.Val1306Asp) c.3467T>A (p.Val1156Asp) c.1769T>A (p.Val590Asp) c.1586T>A (p.Val529Asp) c.3818T>A (p.Val1273Asp) c.3770T>A (p.Val1257Asp) c.3539T>A (p.Val1180Asp) c.3440T>A (p.Val1147Asp) c.2621T>A (p.Val874Asp) n.4172T>A | |
| 13 | g.51937345del | CA2575420456 | ATP7B | c.*1602del (n.*1602del) c.*2696del (n.*2696del) c.3331del (p.Val1111SerfsTer12) c.3952del (p.Val1318SerfsTer12) c.3619del (p.Val1207SerfsTer12) c.3700del (p.Val1234SerfsTer12) n.1275del c.3718del (p.Val1240SerfsTer12) n.4091del n.818del c.2887del (p.Val963SerfsTer12) c.2662del (p.Val888SerfsTer12) c.3757del (p.Val1253SerfsTer12) c.1730del c.*1053del (n.*1053del) n.4696del n.3297del c.3808del (p.Val1270SerfsTer12) c.3856del (p.Val1286SerfsTer12) c.3916del (p.Val1306SerfsTer12) c.3466del (p.Val1156SerfsTer12) c.1768del (p.Val590SerfsTer12) c.1585del (p.Val529SerfsTer12) c.3817del (p.Val1273SerfsTer12) c.3769del (p.Val1257SerfsTer12) c.3538del (p.Val1180SerfsTer12) c.3439del (p.Val1147SerfsTer12) c.2620del (p.Val874SerfsTer12) n.4171del | |
| 13 | g.51937345C>A | CA388021097 | ATP7B | c.*1602G>T (n.*1602G>T) c.*2696G>T (n.*2696G>T) c.3331G>T (p.Val1111Phe) c.3952G>T (p.Val1318Phe) c.3619G>T (p.Val1207Phe) c.3700G>T (p.Val1234Phe) n.1275G>T c.3718G>T (p.Val1240Phe) n.4091G>T n.818G>T c.2887G>T (p.Val963Phe) c.2662G>T (p.Val888Phe) c.3757G>T (p.Val1253Phe) c.1730G>T c.*1053G>T (n.*1053G>T) n.4696G>T n.3297G>T c.3808G>T (p.Val1270Phe) c.3856G>T (p.Val1286Phe) c.3916G>T (p.Val1306Phe) c.3466G>T (p.Val1156Phe) c.1768G>T (p.Val590Phe) c.1585G>T (p.Val529Phe) c.3817G>T (p.Val1273Phe) c.3769G>T (p.Val1257Phe) c.3538G>T (p.Val1180Phe) c.3439G>T (p.Val1147Phe) c.2620G>T (p.Val874Phe) n.4171G>T | |
| 13 | g.51937345C= | CA2091553459 | ATP7B | c.*1602G= (n.*1602G=) c.*2696G= (n.*2696G=) c.3331G= (p.Val1111=) c.3952G= (p.Val1318=) c.3619G= (p.Val1207=) c.3700G= (p.Val1234=) n.1275G= c.3718G= (p.Val1240=) n.4091G= n.818G= c.2887G= (p.Val963=) c.2662G= (p.Val888=) c.3757G= (p.Val1253=) c.1730G= c.*1053G= (n.*1053G=) n.4696G= n.3297G= c.3808G= (p.Val1270=) c.3856G= (p.Val1286=) c.3916G= (p.Val1306=) c.3466G= (p.Val1156=) c.1768G= (p.Val590=) c.1585G= (p.Val529=) c.3817G= (p.Val1273=) c.3769G= (p.Val1257=) c.3538G= (p.Val1180=) c.3439G= (p.Val1147=) c.2620G= (p.Val874=) n.4171G= | |
| 13 | g.51937345C>G | CA388021100 | ATP7B | c.*1602G>C (n.*1602G>C) c.*2696G>C (n.*2696G>C) c.3331G>C (p.Val1111Leu) c.3952G>C (p.Val1318Leu) c.3619G>C (p.Val1207Leu) c.3700G>C (p.Val1234Leu) n.1275G>C c.3718G>C (p.Val1240Leu) n.4091G>C n.818G>C c.2887G>C (p.Val963Leu) c.2662G>C (p.Val888Leu) c.3757G>C (p.Val1253Leu) c.1730G>C c.*1053G>C (n.*1053G>C) n.4696G>C n.3297G>C c.3808G>C (p.Val1270Leu) c.3856G>C (p.Val1286Leu) c.3916G>C (p.Val1306Leu) c.3466G>C (p.Val1156Leu) c.1768G>C (p.Val590Leu) c.1585G>C (p.Val529Leu) c.3817G>C (p.Val1273Leu) c.3769G>C (p.Val1257Leu) c.3538G>C (p.Val1180Leu) c.3439G>C (p.Val1147Leu) c.2620G>C (p.Val874Leu) n.4171G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51937345C>T | CA388021103 | ATP7B | c.*1602G>A (n.*1602G>A) c.*2696G>A (n.*2696G>A) c.3331G>A (p.Val1111Ile) c.3952G>A (p.Val1318Ile) c.3619G>A (p.Val1207Ile) c.3700G>A (p.Val1234Ile) n.1275G>A c.3718G>A (p.Val1240Ile) n.4091G>A n.818G>A c.2887G>A (p.Val963Ile) c.2662G>A (p.Val888Ile) c.3757G>A (p.Val1253Ile) c.1730G>A c.*1053G>A (n.*1053G>A) n.4696G>A n.3297G>A c.3808G>A (p.Val1270Ile) c.3856G>A (p.Val1286Ile) c.3916G>A (p.Val1306Ile) c.3466G>A (p.Val1156Ile) c.1768G>A (p.Val590Ile) c.1585G>A (p.Val529Ile) c.3817G>A (p.Val1273Ile) c.3769G>A (p.Val1257Ile) c.3538G>A (p.Val1180Ile) c.3439G>A (p.Val1147Ile) c.2620G>A (p.Val874Ile) n.4171G>A | |
| 13 | g.51937346A= | CA2091553463 | ATP7B | c.*1601T= (n.*1601T=) c.*2695T= (n.*2695T=) c.3330T= (p.Thr1110=) c.3951T= (p.Thr1317=) c.3618T= (p.Thr1206=) c.3699T= (p.Thr1233=) n.1274T= c.3717T= (p.Thr1239=) n.4090T= n.817T= c.2886T= (p.Thr962=) c.2661T= (p.Thr887=) c.3756T= (p.Thr1252=) c.1729T= c.*1052T= (n.*1052T=) n.4695T= n.3296T= c.3807T= (p.Thr1269=) c.3855T= (p.Thr1285=) c.3915T= (p.Thr1305=) c.3465T= (p.Thr1155=) c.1767T= (p.Thr589=) c.1584T= (p.Thr528=) c.3816T= (p.Thr1272=) c.3768T= (p.Thr1256=) c.3537T= (p.Thr1179=) c.3438T= (p.Thr1146=) c.2619T= (p.Thr873=) n.4170T= | |
| 13 | g.51937346A>C | CA483893509 | ATP7B | c.*1601T>G (n.*1601T>G) c.*2695T>G (n.*2695T>G) c.3330T>G (p.Thr1110=) c.3951T>G (p.Thr1317=) c.3618T>G (p.Thr1206=) c.3699T>G (p.Thr1233=) n.1274T>G c.3717T>G (p.Thr1239=) n.4090T>G n.817T>G c.2886T>G (p.Thr962=) c.2661T>G (p.Thr887=) c.3756T>G (p.Thr1252=) c.1729T>G c.*1052T>G (n.*1052T>G) n.4695T>G n.3296T>G c.3807T>G (p.Thr1269=) c.3855T>G (p.Thr1285=) c.3915T>G (p.Thr1305=) c.3465T>G (p.Thr1155=) c.1767T>G (p.Thr589=) c.1584T>G (p.Thr528=) c.3816T>G (p.Thr1272=) c.3768T>G (p.Thr1256=) c.3537T>G (p.Thr1179=) c.3438T>G (p.Thr1146=) c.2619T>G (p.Thr873=) n.4170T>G | |
| 13 | g.51937346A>G | CA6988530 | ATP7B | c.*1601T>C (n.*1601T>C) c.*2695T>C (n.*2695T>C) c.3330T>C (p.Thr1110=) c.3951T>C (p.Thr1317=) c.3618T>C (p.Thr1206=) c.3699T>C (p.Thr1233=) n.1274T>C c.3717T>C (p.Thr1239=) n.4090T>C n.817T>C c.2886T>C (p.Thr962=) c.2661T>C (p.Thr887=) c.3756T>C (p.Thr1252=) c.1729T>C c.*1052T>C (n.*1052T>C) n.4695T>C n.3296T>C c.3807T>C (p.Thr1269=) c.3855T>C (p.Thr1285=) c.3915T>C (p.Thr1305=) c.3465T>C (p.Thr1155=) c.1767T>C (p.Thr589=) c.1584T>C (p.Thr528=) c.3816T>C (p.Thr1272=) c.3768T>C (p.Thr1256=) c.3537T>C (p.Thr1179=) c.3438T>C (p.Thr1146=) c.2619T>C (p.Thr873=) n.4170T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51937346A>T | CA483893510 | ATP7B | c.*1601T>A (n.*1601T>A) c.*2695T>A (n.*2695T>A) c.3330T>A (p.Thr1110=) c.3951T>A (p.Thr1317=) c.3618T>A (p.Thr1206=) c.3699T>A (p.Thr1233=) n.1274T>A c.3717T>A (p.Thr1239=) n.4090T>A n.817T>A c.2886T>A (p.Thr962=) c.2661T>A (p.Thr887=) c.3756T>A (p.Thr1252=) c.1729T>A c.*1052T>A (n.*1052T>A) n.4695T>A n.3296T>A c.3807T>A (p.Thr1269=) c.3855T>A (p.Thr1285=) c.3915T>A (p.Thr1305=) c.3465T>A (p.Thr1155=) c.1767T>A (p.Thr589=) c.1584T>A (p.Thr528=) c.3816T>A (p.Thr1272=) c.3768T>A (p.Thr1256=) c.3537T>A (p.Thr1179=) c.3438T>A (p.Thr1146=) c.2619T>A (p.Thr873=) n.4170T>A | |
| 13 | g.51937347G>A | CA388021106 | ATP7B | c.*1600C>T (n.*1600C>T) c.*2694C>T (n.*2694C>T) c.3329C>T (p.Thr1110Ile) c.3950C>T (p.Thr1317Ile) c.3617C>T (p.Thr1206Ile) c.3698C>T (p.Thr1233Ile) n.1273C>T c.3716C>T (p.Thr1239Ile) n.4089C>T n.816C>T c.2885C>T (p.Thr962Ile) c.2660C>T (p.Thr887Ile) c.3755C>T (p.Thr1252Ile) c.1728C>T c.*1051C>T (n.*1051C>T) n.4694C>T n.3295C>T c.3806C>T (p.Thr1269Ile) c.3854C>T (p.Thr1285Ile) c.3914C>T (p.Thr1305Ile) c.3464C>T (p.Thr1155Ile) c.1766C>T (p.Thr589Ile) c.1583C>T (p.Thr528Ile) c.3815C>T (p.Thr1272Ile) c.3767C>T (p.Thr1256Ile) c.3536C>T (p.Thr1179Ile) c.3437C>T (p.Thr1146Ile) c.2618C>T (p.Thr873Ile) n.4169C>T | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51937347G>C | CA388021109 | ATP7B | c.*1600C>G (n.*1600C>G) c.*2694C>G (n.*2694C>G) c.3329C>G (p.Thr1110Ser) c.3950C>G (p.Thr1317Ser) c.3617C>G (p.Thr1206Ser) c.3698C>G (p.Thr1233Ser) n.1273C>G c.3716C>G (p.Thr1239Ser) n.4089C>G n.816C>G c.2885C>G (p.Thr962Ser) c.2660C>G (p.Thr887Ser) c.3755C>G (p.Thr1252Ser) c.1728C>G c.*1051C>G (n.*1051C>G) n.4694C>G n.3295C>G c.3806C>G (p.Thr1269Ser) c.3854C>G (p.Thr1285Ser) c.3914C>G (p.Thr1305Ser) c.3464C>G (p.Thr1155Ser) c.1766C>G (p.Thr589Ser) c.1583C>G (p.Thr528Ser) c.3815C>G (p.Thr1272Ser) c.3767C>G (p.Thr1256Ser) c.3536C>G (p.Thr1179Ser) c.3437C>G (p.Thr1146Ser) c.2618C>G (p.Thr873Ser) n.4169C>G | |
| 13 | g.51937347G= | CA2091553465 | ATP7B | c.*1600C= (n.*1600C=) c.*2694C= (n.*2694C=) c.3329C= (p.Thr1110=) c.3950C= (p.Thr1317=) c.3617C= (p.Thr1206=) c.3698C= (p.Thr1233=) n.1273C= c.3716C= (p.Thr1239=) n.4089C= n.816C= c.2885C= (p.Thr962=) c.2660C= (p.Thr887=) c.3755C= (p.Thr1252=) c.1728C= c.*1051C= (n.*1051C=) n.4694C= n.3295C= c.3806C= (p.Thr1269=) c.3854C= (p.Thr1285=) c.3914C= (p.Thr1305=) c.3464C= (p.Thr1155=) c.1766C= (p.Thr589=) c.1583C= (p.Thr528=) c.3815C= (p.Thr1272=) c.3767C= (p.Thr1256=) c.3536C= (p.Thr1179=) c.3437C= (p.Thr1146=) c.2618C= (p.Thr873=) n.4169C= | |
| 13 | g.51937347G>T | CA388021112 | ATP7B | c.*1600C>A (n.*1600C>A) c.*2694C>A (n.*2694C>A) c.3329C>A (p.Thr1110Asn) c.3950C>A (p.Thr1317Asn) c.3617C>A (p.Thr1206Asn) c.3698C>A (p.Thr1233Asn) n.1273C>A c.3716C>A (p.Thr1239Asn) n.4089C>A n.816C>A c.2885C>A (p.Thr962Asn) c.2660C>A (p.Thr887Asn) c.3755C>A (p.Thr1252Asn) c.1728C>A c.*1051C>A (n.*1051C>A) n.4694C>A n.3295C>A c.3806C>A (p.Thr1269Asn) c.3854C>A (p.Thr1285Asn) c.3914C>A (p.Thr1305Asn) c.3464C>A (p.Thr1155Asn) c.1766C>A (p.Thr589Asn) c.1583C>A (p.Thr528Asn) c.3815C>A (p.Thr1272Asn) c.3767C>A (p.Thr1256Asn) c.3536C>A (p.Thr1179Asn) c.3437C>A (p.Thr1146Asn) c.2618C>A (p.Thr873Asn) n.4169C>A | |
| 13 | g.51937348T>A | CA388021116 | ATP7B | c.*1599A>T (n.*1599A>T) c.*2693A>T (n.*2693A>T) c.3328A>T (p.Thr1110Ser) c.3949A>T (p.Thr1317Ser) c.3616A>T (p.Thr1206Ser) c.3697A>T (p.Thr1233Ser) n.1272A>T c.3715A>T (p.Thr1239Ser) n.4088A>T n.815A>T c.2884A>T (p.Thr962Ser) c.2659A>T (p.Thr887Ser) c.3754A>T (p.Thr1252Ser) c.1727A>T c.*1050A>T (n.*1050A>T) n.4693A>T n.3294A>T c.3805A>T (p.Thr1269Ser) c.3853A>T (p.Thr1285Ser) c.3913A>T (p.Thr1305Ser) c.3463A>T (p.Thr1155Ser) c.1765A>T (p.Thr589Ser) c.1582A>T (p.Thr528Ser) c.3814A>T (p.Thr1272Ser) c.3766A>T (p.Thr1256Ser) c.3535A>T (p.Thr1179Ser) c.3436A>T (p.Thr1146Ser) c.2617A>T (p.Thr873Ser) n.4168A>T | |
| 13 | g.51937348T>C | CA6988531 | ATP7B | c.*1599A>G (n.*1599A>G) c.*2693A>G (n.*2693A>G) c.3328A>G (p.Thr1110Ala) c.3949A>G (p.Thr1317Ala) c.3616A>G (p.Thr1206Ala) c.3697A>G (p.Thr1233Ala) n.1272A>G c.3715A>G (p.Thr1239Ala) n.4088A>G n.815A>G c.2884A>G (p.Thr962Ala) c.2659A>G (p.Thr887Ala) c.3754A>G (p.Thr1252Ala) c.1727A>G c.*1050A>G (n.*1050A>G) n.4693A>G n.3294A>G c.3805A>G (p.Thr1269Ala) c.3853A>G (p.Thr1285Ala) c.3913A>G (p.Thr1305Ala) c.3463A>G (p.Thr1155Ala) c.1765A>G (p.Thr589Ala) c.1582A>G (p.Thr528Ala) c.3814A>G (p.Thr1272Ala) c.3766A>G (p.Thr1256Ala) c.3535A>G (p.Thr1179Ala) c.3436A>G (p.Thr1146Ala) c.2617A>G (p.Thr873Ala) n.4168A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51937348T>G | CA388021115 | ATP7B | c.*1599A>C (n.*1599A>C) c.*2693A>C (n.*2693A>C) c.3328A>C (p.Thr1110Pro) c.3949A>C (p.Thr1317Pro) c.3616A>C (p.Thr1206Pro) c.3697A>C (p.Thr1233Pro) n.1272A>C c.3715A>C (p.Thr1239Pro) n.4088A>C n.815A>C c.2884A>C (p.Thr962Pro) c.2659A>C (p.Thr887Pro) c.3754A>C (p.Thr1252Pro) c.1727A>C c.*1050A>C (n.*1050A>C) n.4693A>C n.3294A>C c.3805A>C (p.Thr1269Pro) c.3853A>C (p.Thr1285Pro) c.3913A>C (p.Thr1305Pro) c.3463A>C (p.Thr1155Pro) c.1765A>C (p.Thr589Pro) c.1582A>C (p.Thr528Pro) c.3814A>C (p.Thr1272Pro) c.3766A>C (p.Thr1256Pro) c.3535A>C (p.Thr1179Pro) c.3436A>C (p.Thr1146Pro) c.2617A>C (p.Thr873Pro) n.4168A>C | |
| 13 | g.51937348T= | CA2091553469 | ATP7B | c.*1599A= (n.*1599A=) c.*2693A= (n.*2693A=) c.3328A= (p.Thr1110=) c.3949A= (p.Thr1317=) c.3616A= (p.Thr1206=) c.3697A= (p.Thr1233=) n.1272A= c.3715A= (p.Thr1239=) n.4088A= n.815A= c.2884A= (p.Thr962=) c.2659A= (p.Thr887=) c.3754A= (p.Thr1252=) c.1727A= c.*1050A= (n.*1050A=) n.4693A= n.3294A= c.3805A= (p.Thr1269=) c.3853A= (p.Thr1285=) c.3913A= (p.Thr1305=) c.3463A= (p.Thr1155=) c.1765A= (p.Thr589=) c.1582A= (p.Thr528=) c.3814A= (p.Thr1272=) c.3766A= (p.Thr1256=) c.3535A= (p.Thr1179=) c.3436A= (p.Thr1146=) c.2617A= (p.Thr873=) n.4168A= | |
| 13 | g.51937348_51937349delinsTC | CA2091553470 | ATP7B | c.*1598_*1599delinsGA (n.*1598_*1599delinsGA) c.*2692_*2693delinsGA (n.*2692_*2693delinsGA) c.3327_3328delinsGA (p.Arg1109=) c.3948_3949delinsGA (p.Arg1316=) c.3615_3616delinsGA (p.Arg1205=) c.3696_3697delinsGA (p.Arg1232=) n.1271_1272delinsGA c.3714_3715delinsGA (p.Arg1238=) n.4087_4088delinsGA n.814_815delinsGA c.2883_2884delinsGA (p.Arg961=) c.2658_2659delinsGA (p.Arg886=) c.3753_3754delinsGA (p.Arg1251=) c.1726_1727delinsGA c.*1049_*1050delinsGA (n.*1049_*1050delinsGA) n.4692_4693delinsGA n.3293_3294delinsGA c.3804_3805delinsGA (p.Arg1268=) c.3852_3853delinsGA (p.Arg1284=) c.3912_3913delinsGA (p.Arg1304=) c.3462_3463delinsGA (p.Arg1154=) c.1764_1765delinsGA (p.Arg588=) c.1581_1582delinsGA (p.Arg527=) c.3813_3814delinsGA (p.Arg1271=) c.3765_3766delinsGA (p.Arg1255=) c.3534_3535delinsGA (p.Arg1178=) c.3435_3436delinsGA (p.Arg1145=) c.2616_2617delinsGA (p.Arg872=) n.4167_4168delinsGA | |
| 13 | g.51937349C>A | CA388021117 | ATP7B | c.*1598G>T (n.*1598G>T) c.*2692G>T (n.*2692G>T) c.3327G>T (p.Arg1109Ser) c.3948G>T (p.Arg1316Ser) c.3615G>T (p.Arg1205Ser) c.3696G>T (p.Arg1232Ser) n.1271G>T c.3714G>T (p.Arg1238Ser) n.4087G>T n.814G>T c.2883G>T (p.Arg961Ser) c.2658G>T (p.Arg886Ser) c.3753G>T (p.Arg1251Ser) c.1726G>T c.*1049G>T (n.*1049G>T) n.4692G>T n.3293G>T c.3804G>T (p.Arg1268Ser) c.3852G>T (p.Arg1284Ser) c.3912G>T (p.Arg1304Ser) c.3462G>T (p.Arg1154Ser) c.1764G>T (p.Arg588Ser) c.1581G>T (p.Arg527Ser) c.3813G>T (p.Arg1271Ser) c.3765G>T (p.Arg1255Ser) c.3534G>T (p.Arg1178Ser) c.3435G>T (p.Arg1145Ser) c.2616G>T (p.Arg872Ser) n.4167G>T | |
| 13 | g.51937349C>G | CA388021118 | ATP7B | c.*1598G>C (n.*1598G>C) c.*2692G>C (n.*2692G>C) c.3327G>C (p.Arg1109Ser) c.3948G>C (p.Arg1316Ser) c.3615G>C (p.Arg1205Ser) c.3696G>C (p.Arg1232Ser) n.1271G>C c.3714G>C (p.Arg1238Ser) n.4087G>C n.814G>C c.2883G>C (p.Arg961Ser) c.2658G>C (p.Arg886Ser) c.3753G>C (p.Arg1251Ser) c.1726G>C c.*1049G>C (n.*1049G>C) n.4692G>C n.3293G>C c.3804G>C (p.Arg1268Ser) c.3852G>C (p.Arg1284Ser) c.3912G>C (p.Arg1304Ser) c.3462G>C (p.Arg1154Ser) c.1764G>C (p.Arg588Ser) c.1581G>C (p.Arg527Ser) c.3813G>C (p.Arg1271Ser) c.3765G>C (p.Arg1255Ser) c.3534G>C (p.Arg1178Ser) c.3435G>C (p.Arg1145Ser) c.2616G>C (p.Arg872Ser) n.4167G>C | |
| 13 | g.51937349C>T | CA484024237 | ATP7B | c.*1598G>A (n.*1598G>A) c.*2692G>A (n.*2692G>A) c.3327G>A (p.Arg1109=) c.3948G>A (p.Arg1316=) c.3615G>A (p.Arg1205=) c.3696G>A (p.Arg1232=) n.1271G>A c.3714G>A (p.Arg1238=) n.4087G>A n.814G>A c.2883G>A (p.Arg961=) c.2658G>A (p.Arg886=) c.3753G>A (p.Arg1251=) c.1726G>A c.*1049G>A (n.*1049G>A) n.4692G>A n.3293G>A c.3804G>A (p.Arg1268=) c.3852G>A (p.Arg1284=) c.3912G>A (p.Arg1304=) c.3462G>A (p.Arg1154=) c.1764G>A (p.Arg588=) c.1581G>A (p.Arg527=) c.3813G>A (p.Arg1271=) c.3765G>A (p.Arg1255=) c.3534G>A (p.Arg1178=) c.3435G>A (p.Arg1145=) c.2616G>A (p.Arg872=) n.4167G>A | |
| 13 | g.51937350del | CA16041661 | ATP7B | c.*1598del (n.*1598del) c.*2692del (n.*2692del) c.3327del (p.Thr1110LeufsTer13) c.3948del (p.Thr1317LeufsTer13) c.3615del (p.Thr1206LeufsTer13) c.3696del (p.Thr1233LeufsTer13) n.1271del c.3714del (p.Thr1239LeufsTer13) n.4087del n.814del c.2883del (p.Thr962LeufsTer13) c.2658del (p.Thr887LeufsTer13) c.3753del (p.Thr1252LeufsTer13) c.1726del c.*1049del (n.*1049del) n.4692del n.3293del c.3804del (p.Thr1269LeufsTer13) c.3852del (p.Thr1285LeufsTer13) c.3912del (p.Thr1305LeufsTer13) c.3462del (p.Thr1155LeufsTer13) c.1764del (p.Thr589LeufsTer13) c.1581del (p.Thr528LeufsTer13) c.3813del (p.Thr1272LeufsTer13) c.3765del (p.Thr1256LeufsTer13) c.3534del (p.Thr1179LeufsTer13) c.3435del (p.Thr1146LeufsTer13) c.2616del (p.Thr873LeufsTer13) n.4167del | ClinVar dbSNP gnomAD v4 |
| 13 | g.51937350C>A | CA388021119 | ATP7B | c.*1597G>T (n.*1597G>T) c.*2691G>T (n.*2691G>T) c.3326G>T (p.Arg1109Met) c.3947G>T (p.Arg1316Met) c.3614G>T (p.Arg1205Met) c.3695G>T (p.Arg1232Met) n.1270G>T c.3713G>T (p.Arg1238Met) n.4086G>T n.813G>T c.2882G>T (p.Arg961Met) c.2657G>T (p.Arg886Met) c.3752G>T (p.Arg1251Met) c.1725G>T c.*1048G>T (n.*1048G>T) n.4691G>T n.3292G>T c.3803G>T (p.Arg1268Met) c.3851G>T (p.Arg1284Met) c.3911G>T (p.Arg1304Met) c.3461G>T (p.Arg1154Met) c.1763G>T (p.Arg588Met) c.1580G>T (p.Arg527Met) c.3812G>T (p.Arg1271Met) c.3764G>T (p.Arg1255Met) c.3533G>T (p.Arg1178Met) c.3434G>T (p.Arg1145Met) c.2615G>T (p.Arg872Met) n.4166G>T | |
| 13 | g.51937350C= | CA2091553479 | ATP7B | c.*1597G= (n.*1597G=) c.*2691G= (n.*2691G=) c.3326G= (p.Arg1109=) c.3947G= (p.Arg1316=) c.3614G= (p.Arg1205=) c.3695G= (p.Arg1232=) n.1270G= c.3713G= (p.Arg1238=) n.4086G= n.813G= c.2882G= (p.Arg961=) c.2657G= (p.Arg886=) c.3752G= (p.Arg1251=) c.1725G= c.*1048G= (n.*1048G=) n.4691G= n.3292G= c.3803G= (p.Arg1268=) c.3851G= (p.Arg1284=) c.3911G= (p.Arg1304=) c.3461G= (p.Arg1154=) c.1763G= (p.Arg588=) c.1580G= (p.Arg527=) c.3812G= (p.Arg1271=) c.3764G= (p.Arg1255=) c.3533G= (p.Arg1178=) c.3434G= (p.Arg1145=) c.2615G= (p.Arg872=) n.4166G= | |
| 13 | g.51937350C>G | CA388021121 | ATP7B | c.*1597G>C (n.*1597G>C) c.*2691G>C (n.*2691G>C) c.3326G>C (p.Arg1109Thr) c.3947G>C (p.Arg1316Thr) c.3614G>C (p.Arg1205Thr) c.3695G>C (p.Arg1232Thr) n.1270G>C c.3713G>C (p.Arg1238Thr) n.4086G>C n.813G>C c.2882G>C (p.Arg961Thr) c.2657G>C (p.Arg886Thr) c.3752G>C (p.Arg1251Thr) c.1725G>C c.*1048G>C (n.*1048G>C) n.4691G>C n.3292G>C c.3803G>C (p.Arg1268Thr) c.3851G>C (p.Arg1284Thr) c.3911G>C (p.Arg1304Thr) c.3461G>C (p.Arg1154Thr) c.1763G>C (p.Arg588Thr) c.1580G>C (p.Arg527Thr) c.3812G>C (p.Arg1271Thr) c.3764G>C (p.Arg1255Thr) c.3533G>C (p.Arg1178Thr) c.3434G>C (p.Arg1145Thr) c.2615G>C (p.Arg872Thr) n.4166G>C | |
| 13 | g.51937350C>T | CA388021122 | ATP7B | c.*1597G>A (n.*1597G>A) c.*2691G>A (n.*2691G>A) c.3326G>A (p.Arg1109Lys) c.3947G>A (p.Arg1316Lys) c.3614G>A (p.Arg1205Lys) c.3695G>A (p.Arg1232Lys) n.1270G>A c.3713G>A (p.Arg1238Lys) n.4086G>A n.813G>A c.2882G>A (p.Arg961Lys) c.2657G>A (p.Arg886Lys) c.3752G>A (p.Arg1251Lys) c.1725G>A c.*1048G>A (n.*1048G>A) n.4691G>A n.3292G>A c.3803G>A (p.Arg1268Lys) c.3851G>A (p.Arg1284Lys) c.3911G>A (p.Arg1304Lys) c.3461G>A (p.Arg1154Lys) c.1763G>A (p.Arg588Lys) c.1580G>A (p.Arg527Lys) c.3812G>A (p.Arg1271Lys) c.3764G>A (p.Arg1255Lys) c.3533G>A (p.Arg1178Lys) c.3434G>A (p.Arg1145Lys) c.2615G>A (p.Arg872Lys) n.4166G>A | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51937350_51937355delinsTCT | CA2499222484 | ATP7B | c.*1592_*1597delinsAGA (n.*1592_*1597delinsAGA) c.*2686_*2691delinsAGA (n.*2686_*2691delinsAGA) c.3321_3326delinsAGA (p.Lys1108_Arg1109delinsGlu) c.3942_3947delinsAGA (p.Lys1315_Arg1316delinsGlu) c.3609_3614delinsAGA (p.Lys1204_Arg1205delinsGlu) c.3690_3695delinsAGA (p.Lys1231_Arg1232delinsGlu) n.1265_1270delinsAGA c.3708_3713delinsAGA (p.Lys1237_Arg1238delinsGlu) n.4081_4086delinsAGA n.808_813delinsAGA c.2877_2882delinsAGA (p.Lys960_Arg961delinsGlu) c.2652_2657delinsAGA (p.Lys885_Arg886delinsGlu) c.3747_3752delinsAGA (p.Lys1250_Arg1251delinsGlu) c.1720_1725delinsAGA c.*1043_*1048delinsAGA (n.*1043_*1048delinsAGA) n.4686_4691delinsAGA n.3287_3292delinsAGA c.3798_3803delinsAGA (p.Lys1267_Arg1268delinsGlu) c.3846_3851delinsAGA (p.Lys1283_Arg1284delinsGlu) c.3906_3911delinsAGA (p.Lys1303_Arg1304delinsGlu) c.3456_3461delinsAGA (p.Lys1153_Arg1154delinsGlu) c.1758_1763delinsAGA (p.Lys587_Arg588delinsGlu) c.1575_1580delinsAGA (p.Lys526_Arg527delinsGlu) c.3807_3812delinsAGA (p.Lys1270_Arg1271delinsGlu) c.3759_3764delinsAGA (p.Lys1254_Arg1255delinsGlu) c.3528_3533delinsAGA (p.Lys1177_Arg1178delinsGlu) c.3429_3434delinsAGA (p.Lys1144_Arg1145delinsGlu) c.2610_2615delinsAGA (p.Lys871_Arg872delinsGlu) n.4161_4166delinsAGA | ClinVar dbSNP |
| 13 | g.51937351T>A | CA388021124 | ATP7B | c.*1596A>T (n.*1596A>T) c.*2690A>T (n.*2690A>T) c.3325A>T (p.Arg1109Trp) c.3946A>T (p.Arg1316Trp) c.3613A>T (p.Arg1205Trp) c.3694A>T (p.Arg1232Trp) n.1269A>T c.3712A>T (p.Arg1238Trp) n.4085A>T n.812A>T c.2881A>T (p.Arg961Trp) c.2656A>T (p.Arg886Trp) c.3751A>T (p.Arg1251Trp) c.1724A>T c.*1047A>T (n.*1047A>T) n.4690A>T n.3291A>T c.3802A>T (p.Arg1268Trp) c.3850A>T (p.Arg1284Trp) c.3910A>T (p.Arg1304Trp) c.3460A>T (p.Arg1154Trp) c.1762A>T (p.Arg588Trp) c.1579A>T (p.Arg527Trp) c.3811A>T (p.Arg1271Trp) c.3763A>T (p.Arg1255Trp) c.3532A>T (p.Arg1178Trp) c.3433A>T (p.Arg1145Trp) c.2614A>T (p.Arg872Trp) n.4165A>T | |
| 13 | g.51937351T>C | CA388021125 | ATP7B | c.*1596A>G (n.*1596A>G) c.*2690A>G (n.*2690A>G) c.3325A>G (p.Arg1109Gly) c.3946A>G (p.Arg1316Gly) c.3613A>G (p.Arg1205Gly) c.3694A>G (p.Arg1232Gly) n.1269A>G c.3712A>G (p.Arg1238Gly) n.4085A>G n.812A>G c.2881A>G (p.Arg961Gly) c.2656A>G (p.Arg886Gly) c.3751A>G (p.Arg1251Gly) c.1724A>G c.*1047A>G (n.*1047A>G) n.4690A>G n.3291A>G c.3802A>G (p.Arg1268Gly) c.3850A>G (p.Arg1284Gly) c.3910A>G (p.Arg1304Gly) c.3460A>G (p.Arg1154Gly) c.1762A>G (p.Arg588Gly) c.1579A>G (p.Arg527Gly) c.3811A>G (p.Arg1271Gly) c.3763A>G (p.Arg1255Gly) c.3532A>G (p.Arg1178Gly) c.3433A>G (p.Arg1145Gly) c.2614A>G (p.Arg872Gly) n.4165A>G | |
| 13 | g.51937351T>G | CA484024238 | ATP7B | c.*1596A>C (n.*1596A>C) c.*2690A>C (n.*2690A>C) c.3325A>C (p.Arg1109=) c.3946A>C (p.Arg1316=) c.3613A>C (p.Arg1205=) c.3694A>C (p.Arg1232=) n.1269A>C c.3712A>C (p.Arg1238=) n.4085A>C n.812A>C c.2881A>C (p.Arg961=) c.2656A>C (p.Arg886=) c.3751A>C (p.Arg1251=) c.1724A>C c.*1047A>C (n.*1047A>C) n.4690A>C n.3291A>C c.3802A>C (p.Arg1268=) c.3850A>C (p.Arg1284=) c.3910A>C (p.Arg1304=) c.3460A>C (p.Arg1154=) c.1762A>C (p.Arg588=) c.1579A>C (p.Arg527=) c.3811A>C (p.Arg1271=) c.3763A>C (p.Arg1255=) c.3532A>C (p.Arg1178=) c.3433A>C (p.Arg1145=) c.2614A>C (p.Arg872=) n.4165A>C | |
| 13 | g.51937352C>A | CA388021127 | ATP7B | c.*1595G>T (n.*1595G>T) c.*2689G>T (n.*2689G>T) c.3324G>T (p.Lys1108Asn) c.3945G>T (p.Lys1315Asn) c.3612G>T (p.Lys1204Asn) c.3693G>T (p.Lys1231Asn) n.1268G>T c.3711G>T (p.Lys1237Asn) n.4084G>T n.811G>T c.2880G>T (p.Lys960Asn) c.2655G>T (p.Lys885Asn) c.3750G>T (p.Lys1250Asn) c.1723G>T c.*1046G>T (n.*1046G>T) n.4689G>T n.3290G>T c.3801G>T (p.Lys1267Asn) c.3849G>T (p.Lys1283Asn) c.3909G>T (p.Lys1303Asn) c.3459G>T (p.Lys1153Asn) c.1761G>T (p.Lys587Asn) c.1578G>T (p.Lys526Asn) c.3810G>T (p.Lys1270Asn) c.3762G>T (p.Lys1254Asn) c.3531G>T (p.Lys1177Asn) c.3432G>T (p.Lys1144Asn) c.2613G>T (p.Lys871Asn) n.4164G>T | |
| 13 | g.51937352C= | CA2091553482 | ATP7B | c.*1595G= (n.*1595G=) c.*2689G= (n.*2689G=) c.3324G= (p.Lys1108=) c.3945G= (p.Lys1315=) c.3612G= (p.Lys1204=) c.3693G= (p.Lys1231=) n.1268G= c.3711G= (p.Lys1237=) n.4084G= n.811G= c.2880G= (p.Lys960=) c.2655G= (p.Lys885=) c.3750G= (p.Lys1250=) c.1723G= c.*1046G= (n.*1046G=) n.4689G= n.3290G= c.3801G= (p.Lys1267=) c.3849G= (p.Lys1283=) c.3909G= (p.Lys1303=) c.3459G= (p.Lys1153=) c.1761G= (p.Lys587=) c.1578G= (p.Lys526=) c.3810G= (p.Lys1270=) c.3762G= (p.Lys1254=) c.3531G= (p.Lys1177=) c.3432G= (p.Lys1144=) c.2613G= (p.Lys871=) n.4164G= | |
| 13 | g.51937352C>G | CA388021129 | ATP7B | c.*1595G>C (n.*1595G>C) c.*2689G>C (n.*2689G>C) c.3324G>C (p.Lys1108Asn) c.3945G>C (p.Lys1315Asn) c.3612G>C (p.Lys1204Asn) c.3693G>C (p.Lys1231Asn) n.1268G>C c.3711G>C (p.Lys1237Asn) n.4084G>C n.811G>C c.2880G>C (p.Lys960Asn) c.2655G>C (p.Lys885Asn) c.3750G>C (p.Lys1250Asn) c.1723G>C c.*1046G>C (n.*1046G>C) n.4689G>C n.3290G>C c.3801G>C (p.Lys1267Asn) c.3849G>C (p.Lys1283Asn) c.3909G>C (p.Lys1303Asn) c.3459G>C (p.Lys1153Asn) c.1761G>C (p.Lys587Asn) c.1578G>C (p.Lys526Asn) c.3810G>C (p.Lys1270Asn) c.3762G>C (p.Lys1254Asn) c.3531G>C (p.Lys1177Asn) c.3432G>C (p.Lys1144Asn) c.2613G>C (p.Lys871Asn) n.4164G>C | |
| 13 | g.51937352C>T | CA484024239 | ATP7B | c.*1595G>A (n.*1595G>A) c.*2689G>A (n.*2689G>A) c.3324G>A (p.Lys1108=) c.3945G>A (p.Lys1315=) c.3612G>A (p.Lys1204=) c.3693G>A (p.Lys1231=) n.1268G>A c.3711G>A (p.Lys1237=) n.4084G>A n.811G>A c.2880G>A (p.Lys960=) c.2655G>A (p.Lys885=) c.3750G>A (p.Lys1250=) c.1723G>A c.*1046G>A (n.*1046G>A) n.4689G>A n.3290G>A c.3801G>A (p.Lys1267=) c.3849G>A (p.Lys1283=) c.3909G>A (p.Lys1303=) c.3459G>A (p.Lys1153=) c.1761G>A (p.Lys587=) c.1578G>A (p.Lys526=) c.3810G>A (p.Lys1270=) c.3762G>A (p.Lys1254=) c.3531G>A (p.Lys1177=) c.3432G>A (p.Lys1144=) c.2613G>A (p.Lys871=) n.4164G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.51937354_51937369del | CA2623119065 | ATP7B | c.*1580_*1595del (n.*1580_*1595del) c.*2674_*2689del (n.*2674_*2689del) c.3309_3324del (p.Ser1103ArgfsTer15) c.3930_3945del (p.Ser1310ArgfsTer15) c.3597_3612del (p.Ser1199ArgfsTer15) c.3678_3693del (p.Ser1226ArgfsTer15) n.1253_1268del c.3696_3711del (p.Ser1232ArgfsTer15) n.4069_4084del n.796_811del c.2865_2880del (p.Ser955ArgfsTer15) c.2640_2655del (p.Ser880ArgfsTer15) c.3735_3750del (p.Ser1245ArgfsTer15) c.1708_1723del c.*1031_*1046del (n.*1031_*1046del) n.4674_4689del n.3275_3290del c.3786_3801del (p.Ser1262ArgfsTer15) c.3834_3849del (p.Ser1278ArgfsTer15) c.3894_3909del (p.Ser1298ArgfsTer15) c.3444_3459del (p.Ser1148ArgfsTer15) c.1746_1761del (p.Ser582ArgfsTer15) c.1563_1578del (p.Ser521ArgfsTer15) c.3795_3810del (p.Ser1265ArgfsTer15) c.3747_3762del (p.Ser1249ArgfsTer15) c.3516_3531del (p.Ser1172ArgfsTer15) c.3417_3432del (p.Ser1139ArgfsTer15) c.2598_2613del (p.Ser866ArgfsTer15) n.4149_4164del | gnomAD v4 |
| 13 | g.51937353T>A | CA388021131 | ATP7B | c.*1594A>T (n.*1594A>T) c.*2688A>T (n.*2688A>T) c.3323A>T (p.Lys1108Met) c.3944A>T (p.Lys1315Met) c.3611A>T (p.Lys1204Met) c.3692A>T (p.Lys1231Met) n.1267A>T c.3710A>T (p.Lys1237Met) n.4083A>T n.810A>T c.2879A>T (p.Lys960Met) c.2654A>T (p.Lys885Met) c.3749A>T (p.Lys1250Met) c.1722A>T c.*1045A>T (n.*1045A>T) n.4688A>T n.3289A>T c.3800A>T (p.Lys1267Met) c.3848A>T (p.Lys1283Met) c.3908A>T (p.Lys1303Met) c.3458A>T (p.Lys1153Met) c.1760A>T (p.Lys587Met) c.1577A>T (p.Lys526Met) c.3809A>T (p.Lys1270Met) c.3761A>T (p.Lys1254Met) c.3530A>T (p.Lys1177Met) c.3431A>T (p.Lys1144Met) c.2612A>T (p.Lys871Met) n.4163A>T | |
| 13 | g.51937353T>C | CA388021132 | ATP7B | c.*1594A>G (n.*1594A>G) c.*2688A>G (n.*2688A>G) c.3323A>G (p.Lys1108Arg) c.3944A>G (p.Lys1315Arg) c.3611A>G (p.Lys1204Arg) c.3692A>G (p.Lys1231Arg) n.1267A>G c.3710A>G (p.Lys1237Arg) n.4083A>G n.810A>G c.2879A>G (p.Lys960Arg) c.2654A>G (p.Lys885Arg) c.3749A>G (p.Lys1250Arg) c.1722A>G c.*1045A>G (n.*1045A>G) n.4688A>G n.3289A>G c.3800A>G (p.Lys1267Arg) c.3848A>G (p.Lys1283Arg) c.3908A>G (p.Lys1303Arg) c.3458A>G (p.Lys1153Arg) c.1760A>G (p.Lys587Arg) c.1577A>G (p.Lys526Arg) c.3809A>G (p.Lys1270Arg) c.3761A>G (p.Lys1254Arg) c.3530A>G (p.Lys1177Arg) c.3431A>G (p.Lys1144Arg) c.2612A>G (p.Lys871Arg) n.4163A>G | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.51937353T>G | CA388021133 | ATP7B | c.*1594A>C (n.*1594A>C) c.*2688A>C (n.*2688A>C) c.3323A>C (p.Lys1108Thr) c.3944A>C (p.Lys1315Thr) c.3611A>C (p.Lys1204Thr) c.3692A>C (p.Lys1231Thr) n.1267A>C c.3710A>C (p.Lys1237Thr) n.4083A>C n.810A>C c.2879A>C (p.Lys960Thr) c.2654A>C (p.Lys885Thr) c.3749A>C (p.Lys1250Thr) c.1722A>C c.*1045A>C (n.*1045A>C) n.4688A>C n.3289A>C c.3800A>C (p.Lys1267Thr) c.3848A>C (p.Lys1283Thr) c.3908A>C (p.Lys1303Thr) c.3458A>C (p.Lys1153Thr) c.1760A>C (p.Lys587Thr) c.1577A>C (p.Lys526Thr) c.3809A>C (p.Lys1270Thr) c.3761A>C (p.Lys1254Thr) c.3530A>C (p.Lys1177Thr) c.3431A>C (p.Lys1144Thr) c.2612A>C (p.Lys871Thr) n.4163A>C | |
| 13 | g.51937353T= | CA2091553488 | ATP7B | c.*1594A= (n.*1594A=) c.*2688A= (n.*2688A=) c.3323A= (p.Lys1108=) c.3944A= (p.Lys1315=) c.3611A= (p.Lys1204=) c.3692A= (p.Lys1231=) n.1267A= c.3710A= (p.Lys1237=) n.4083A= n.810A= c.2879A= (p.Lys960=) c.2654A= (p.Lys885=) c.3749A= (p.Lys1250=) c.1722A= c.*1045A= (n.*1045A=) n.4688A= n.3289A= c.3800A= (p.Lys1267=) c.3848A= (p.Lys1283=) c.3908A= (p.Lys1303=) c.3458A= (p.Lys1153=) c.1760A= (p.Lys587=) c.1577A= (p.Lys526=) c.3809A= (p.Lys1270=) c.3761A= (p.Lys1254=) c.3530A= (p.Lys1177=) c.3431A= (p.Lys1144=) c.2612A= (p.Lys871=) n.4163A= | |
| 13 | g.51937353_51937355delinsTTG | CA2091553487 | ATP7B | c.*1592_*1594delinsCAA (n.*1592_*1594delinsCAA) c.*2686_*2688delinsCAA (n.*2686_*2688delinsCAA) c.3321_3323delinsCAA (p.Ser1107=) c.3942_3944delinsCAA (p.Ser1314=) c.3609_3611delinsCAA (p.Ser1203=) c.3690_3692delinsCAA (p.Ser1230=) n.1265_1267delinsCAA c.3708_3710delinsCAA (p.Ser1236=) n.4081_4083delinsCAA n.808_810delinsCAA c.2877_2879delinsCAA (p.Ser959=) c.2652_2654delinsCAA (p.Ser884=) c.3747_3749delinsCAA (p.Ser1249=) c.1720_1722delinsCAA c.*1043_*1045delinsCAA (n.*1043_*1045delinsCAA) n.4686_4688delinsCAA n.3287_3289delinsCAA c.3798_3800delinsCAA (p.Ser1266=) c.3846_3848delinsCAA (p.Ser1282=) c.3906_3908delinsCAA (p.Ser1302=) c.3456_3458delinsCAA (p.Ser1152=) c.1758_1760delinsCAA (p.Ser586=) c.1575_1577delinsCAA (p.Ser525=) c.3807_3809delinsCAA (p.Ser1269=) c.3759_3761delinsCAA (p.Ser1253=) c.3528_3530delinsCAA (p.Ser1176=) c.3429_3431delinsCAA (p.Ser1143=) c.2610_2612delinsCAA (p.Ser870=) n.4161_4163delinsCAA |