| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51937298_51937299insCATTATAACCCAACC | CA2695218731 | ATP7B | c.*1655_*1656insTTATAATGGGTTGGG (n.*1655_*1656insTTATAATGGGTTGGG) c.*2749_*2750insTTATAATGGGTTGGG (n.*2749_*2750insTTATAATGGGTTGGG) c.3384_3385insTTATAATGGGTTGGG c.4005_4006insTTATAATGGGTTGGG c.3672_3673insTTATAATGGGTTGGG c.3753_3754insTTATAATGGGTTGGG n.1328_1329insTTATAATGGGTTGGG c.3771_3772insTTATAATGGGTTGGG n.4144_4145insTTATAATGGGTTGGG n.871_872insTTATAATGGGTTGGG c.2940_2941insTTATAATGGGTTGGG c.2715_2716insTTATAATGGGTTGGG c.3810_3811insTTATAATGGGTTGGG c.1783_1784insTTATAATGGGTTGGG c.*1106_*1107insTTATAATGGGTTGGG (n.*1106_*1107insTTATAATGGGTTGGG) n.4749_4750insTTATAATGGGTTGGG n.3350_3351insTTATAATGGGTTGGG c.3861_3862insTTATAATGGGTTGGG c.3909_3910insTTATAATGGGTTGGG c.3969_3970insTTATAATGGGTTGGG c.3519_3520insTTATAATGGGTTGGG c.1821_1822insTTATAATGGGTTGGG c.1638_1639insTTATAATGGGTTGGG c.3870_3871insTTATAATGGGTTGGG c.3822_3823insTTATAATGGGTTGGG c.3591_3592insTTATAATGGGTTGGG c.3492_3493insTTATAATGGGTTGGG c.2673_2674insTTATAATGGGTTGGG n.4224_4225insTTATAATGGGTTGGG | |
| 13 | g.51937295A>C | CA483893464 | ATP7B | c.*1652T>G (n.*1652T>G) c.*2746T>G (n.*2746T>G) c.3381T>G (p.Val1127=) c.4002T>G (p.Val1334=) c.3669T>G (p.Val1223=) c.3750T>G (p.Val1250=) n.1325T>G c.3768T>G (p.Val1256=) n.4141T>G n.868T>G c.2937T>G (p.Val979=) c.2712T>G (p.Val904=) c.3807T>G (p.Val1269=) c.1780T>G c.*1103T>G (n.*1103T>G) n.4746T>G n.3347T>G c.3858T>G (p.Val1286=) c.3906T>G (p.Val1302=) c.3966T>G (p.Val1322=) c.3516T>G (p.Val1172=) c.1818T>G (p.Val606=) c.1635T>G (p.Val545=) c.3867T>G (p.Val1289=) c.3819T>G (p.Val1273=) c.3588T>G (p.Val1196=) c.3489T>G (p.Val1163=) c.2670T>G (p.Val890=) n.4221T>G | |
| 13 | g.51937295A>G | CA483893465 | ATP7B | c.*1652T>C (n.*1652T>C) c.*2746T>C (n.*2746T>C) c.3381T>C (p.Val1127=) c.4002T>C (p.Val1334=) c.3669T>C (p.Val1223=) c.3750T>C (p.Val1250=) n.1325T>C c.3768T>C (p.Val1256=) n.4141T>C n.868T>C c.2937T>C (p.Val979=) c.2712T>C (p.Val904=) c.3807T>C (p.Val1269=) c.1780T>C c.*1103T>C (n.*1103T>C) n.4746T>C n.3347T>C c.3858T>C (p.Val1286=) c.3906T>C (p.Val1302=) c.3966T>C (p.Val1322=) c.3516T>C (p.Val1172=) c.1818T>C (p.Val606=) c.1635T>C (p.Val545=) c.3867T>C (p.Val1289=) c.3819T>C (p.Val1273=) c.3588T>C (p.Val1196=) c.3489T>C (p.Val1163=) c.2670T>C (p.Val890=) n.4221T>C | |
| 13 | g.51937295A>T | CA483893466 | ATP7B | c.*1652T>A (n.*1652T>A) c.*2746T>A (n.*2746T>A) c.3381T>A (p.Val1127=) c.4002T>A (p.Val1334=) c.3669T>A (p.Val1223=) c.3750T>A (p.Val1250=) n.1325T>A c.3768T>A (p.Val1256=) n.4141T>A n.868T>A c.2937T>A (p.Val979=) c.2712T>A (p.Val904=) c.3807T>A (p.Val1269=) c.1780T>A c.*1103T>A (n.*1103T>A) n.4746T>A n.3347T>A c.3858T>A (p.Val1286=) c.3906T>A (p.Val1302=) c.3966T>A (p.Val1322=) c.3516T>A (p.Val1172=) c.1818T>A (p.Val606=) c.1635T>A (p.Val545=) c.3867T>A (p.Val1289=) c.3819T>A (p.Val1273=) c.3588T>A (p.Val1196=) c.3489T>A (p.Val1163=) c.2670T>A (p.Val890=) n.4221T>A | |
| 13 | g.51937296A>C | CA388020830 | ATP7B | c.*1651T>G (n.*1651T>G) c.*2745T>G (n.*2745T>G) c.3380T>G (p.Val1127Gly) c.4001T>G (p.Val1334Gly) c.3668T>G (p.Val1223Gly) c.3749T>G (p.Val1250Gly) n.1324T>G c.3767T>G (p.Val1256Gly) n.4140T>G n.867T>G c.2936T>G (p.Val979Gly) c.2711T>G (p.Val904Gly) c.3806T>G (p.Val1269Gly) c.1779T>G c.*1102T>G (n.*1102T>G) n.4745T>G n.3346T>G c.3857T>G (p.Val1286Gly) c.3905T>G (p.Val1302Gly) c.3965T>G (p.Val1322Gly) c.3515T>G (p.Val1172Gly) c.1817T>G (p.Val606Gly) c.1634T>G (p.Val545Gly) c.3866T>G (p.Val1289Gly) c.3818T>G (p.Val1273Gly) c.3587T>G (p.Val1196Gly) c.3488T>G (p.Val1163Gly) c.2669T>G (p.Val890Gly) n.4220T>G | |
| 13 | g.51937296A>G | CA388020831 | ATP7B | c.*1651T>C (n.*1651T>C) c.*2745T>C (n.*2745T>C) c.3380T>C (p.Val1127Ala) c.4001T>C (p.Val1334Ala) c.3668T>C (p.Val1223Ala) c.3749T>C (p.Val1250Ala) n.1324T>C c.3767T>C (p.Val1256Ala) n.4140T>C n.867T>C c.2936T>C (p.Val979Ala) c.2711T>C (p.Val904Ala) c.3806T>C (p.Val1269Ala) c.1779T>C c.*1102T>C (n.*1102T>C) n.4745T>C n.3346T>C c.3857T>C (p.Val1286Ala) c.3905T>C (p.Val1302Ala) c.3965T>C (p.Val1322Ala) c.3515T>C (p.Val1172Ala) c.1817T>C (p.Val606Ala) c.1634T>C (p.Val545Ala) c.3866T>C (p.Val1289Ala) c.3818T>C (p.Val1273Ala) c.3587T>C (p.Val1196Ala) c.3488T>C (p.Val1163Ala) c.2669T>C (p.Val890Ala) n.4220T>C | |
| 13 | g.51937296A>T | CA388020832 | ATP7B | c.*1651T>A (n.*1651T>A) c.*2745T>A (n.*2745T>A) c.3380T>A (p.Val1127Asp) c.4001T>A (p.Val1334Asp) c.3668T>A (p.Val1223Asp) c.3749T>A (p.Val1250Asp) n.1324T>A c.3767T>A (p.Val1256Asp) n.4140T>A n.867T>A c.2936T>A (p.Val979Asp) c.2711T>A (p.Val904Asp) c.3806T>A (p.Val1269Asp) c.1779T>A c.*1102T>A (n.*1102T>A) n.4745T>A n.3346T>A c.3857T>A (p.Val1286Asp) c.3905T>A (p.Val1302Asp) c.3965T>A (p.Val1322Asp) c.3515T>A (p.Val1172Asp) c.1817T>A (p.Val606Asp) c.1634T>A (p.Val545Asp) c.3866T>A (p.Val1289Asp) c.3818T>A (p.Val1273Asp) c.3587T>A (p.Val1196Asp) c.3488T>A (p.Val1163Asp) c.2669T>A (p.Val890Asp) n.4220T>A | |
| 13 | g.51937297C>A | CA388020839 | ATP7B | c.*1650G>T (n.*1650G>T) c.*2744G>T (n.*2744G>T) c.3379G>T (p.Val1127Phe) c.4000G>T (p.Val1334Phe) c.3667G>T (p.Val1223Phe) c.3748G>T (p.Val1250Phe) n.1323G>T c.3766G>T (p.Val1256Phe) n.4139G>T n.866G>T c.2935G>T (p.Val979Phe) c.2710G>T (p.Val904Phe) c.3805G>T (p.Val1269Phe) c.1778G>T c.*1101G>T (n.*1101G>T) n.4744G>T n.3345G>T c.3856G>T (p.Val1286Phe) c.3904G>T (p.Val1302Phe) c.3964G>T (p.Val1322Phe) c.3514G>T (p.Val1172Phe) c.1816G>T (p.Val606Phe) c.1633G>T (p.Val545Phe) c.3865G>T (p.Val1289Phe) c.3817G>T (p.Val1273Phe) c.3586G>T (p.Val1196Phe) c.3487G>T (p.Val1163Phe) c.2668G>T (p.Val890Phe) n.4219G>T | dbSNP |
| 13 | g.51937297C= | CA2091553337 | ATP7B | c.*1650G= (n.*1650G=) c.*2744G= (n.*2744G=) c.3379G= (p.Val1127=) c.4000G= (p.Val1334=) c.3667G= (p.Val1223=) c.3748G= (p.Val1250=) n.1323G= c.3766G= (p.Val1256=) n.4139G= n.866G= c.2935G= (p.Val979=) c.2710G= (p.Val904=) c.3805G= (p.Val1269=) c.1778G= c.*1101G= (n.*1101G=) n.4744G= n.3345G= c.3856G= (p.Val1286=) c.3904G= (p.Val1302=) c.3964G= (p.Val1322=) c.3514G= (p.Val1172=) c.1816G= (p.Val606=) c.1633G= (p.Val545=) c.3865G= (p.Val1289=) c.3817G= (p.Val1273=) c.3586G= (p.Val1196=) c.3487G= (p.Val1163=) c.2668G= (p.Val890=) n.4219G= | |
| 13 | g.51937297C>G | CA388020842 | ATP7B | c.*1650G>C (n.*1650G>C) c.*2744G>C (n.*2744G>C) c.3379G>C (p.Val1127Leu) c.4000G>C (p.Val1334Leu) c.3667G>C (p.Val1223Leu) c.3748G>C (p.Val1250Leu) n.1323G>C c.3766G>C (p.Val1256Leu) n.4139G>C n.866G>C c.2935G>C (p.Val979Leu) c.2710G>C (p.Val904Leu) c.3805G>C (p.Val1269Leu) c.1778G>C c.*1101G>C (n.*1101G>C) n.4744G>C n.3345G>C c.3856G>C (p.Val1286Leu) c.3904G>C (p.Val1302Leu) c.3964G>C (p.Val1322Leu) c.3514G>C (p.Val1172Leu) c.1816G>C (p.Val606Leu) c.1633G>C (p.Val545Leu) c.3865G>C (p.Val1289Leu) c.3817G>C (p.Val1273Leu) c.3586G>C (p.Val1196Leu) c.3487G>C (p.Val1163Leu) c.2668G>C (p.Val890Leu) n.4219G>C | dbSNP |
| 13 | g.51937297C>T | CA388020836 | ATP7B | c.*1650G>A (n.*1650G>A) c.*2744G>A (n.*2744G>A) c.3379G>A (p.Val1127Ile) c.4000G>A (p.Val1334Ile) c.3667G>A (p.Val1223Ile) c.3748G>A (p.Val1250Ile) n.1323G>A c.3766G>A (p.Val1256Ile) n.4139G>A n.866G>A c.2935G>A (p.Val979Ile) c.2710G>A (p.Val904Ile) c.3805G>A (p.Val1269Ile) c.1778G>A c.*1101G>A (n.*1101G>A) n.4744G>A n.3345G>A c.3856G>A (p.Val1286Ile) c.3904G>A (p.Val1302Ile) c.3964G>A (p.Val1322Ile) c.3514G>A (p.Val1172Ile) c.1816G>A (p.Val606Ile) c.1633G>A (p.Val545Ile) c.3865G>A (p.Val1289Ile) c.3817G>A (p.Val1273Ile) c.3586G>A (p.Val1196Ile) c.3487G>A (p.Val1163Ile) c.2668G>A (p.Val890Ile) n.4219G>A | |
| 13 | g.51937298C>A | CA250073339 | ATP7B | c.*1649G>T (n.*1649G>T) c.*2743G>T (n.*2743G>T) c.3378G>T (p.Leu1126=) c.3999G>T (p.Leu1333=) c.3666G>T (p.Leu1222=) c.3747G>T (p.Leu1249=) n.1322G>T c.3765G>T (p.Leu1255=) n.4138G>T n.865G>T c.2934G>T (p.Leu978=) c.2709G>T (p.Leu903=) c.3804G>T (p.Leu1268=) c.1777G>T c.*1100G>T (n.*1100G>T) n.4743G>T n.3344G>T c.3855G>T (p.Leu1285=) c.3903G>T (p.Leu1301=) c.3963G>T (p.Leu1321=) c.3513G>T (p.Leu1171=) c.1815G>T (p.Leu605=) c.1632G>T (p.Leu544=) c.3864G>T (p.Leu1288=) c.3816G>T (p.Leu1272=) c.3585G>T (p.Leu1195=) c.3486G>T (p.Leu1162=) c.2667G>T (p.Leu889=) n.4218G>T | dbSNP |
| 13 | g.51937298C= | CA2091553344 | ATP7B | c.*1649G= (n.*1649G=) c.*2743G= (n.*2743G=) c.3378G= (p.Leu1126=) c.3999G= (p.Leu1333=) c.3666G= (p.Leu1222=) c.3747G= (p.Leu1249=) n.1322G= c.3765G= (p.Leu1255=) n.4138G= n.865G= c.2934G= (p.Leu978=) c.2709G= (p.Leu903=) c.3804G= (p.Leu1268=) c.1777G= c.*1100G= (n.*1100G=) n.4743G= n.3344G= c.3855G= (p.Leu1285=) c.3903G= (p.Leu1301=) c.3963G= (p.Leu1321=) c.3513G= (p.Leu1171=) c.1815G= (p.Leu605=) c.1632G= (p.Leu544=) c.3864G= (p.Leu1288=) c.3816G= (p.Leu1272=) c.3585G= (p.Leu1195=) c.3486G= (p.Leu1162=) c.2667G= (p.Leu889=) n.4218G= | |
| 13 | g.51937298C>G | CA483893467 | ATP7B | c.*1649G>C (n.*1649G>C) c.*2743G>C (n.*2743G>C) c.3378G>C (p.Leu1126=) c.3999G>C (p.Leu1333=) c.3666G>C (p.Leu1222=) c.3747G>C (p.Leu1249=) n.1322G>C c.3765G>C (p.Leu1255=) n.4138G>C n.865G>C c.2934G>C (p.Leu978=) c.2709G>C (p.Leu903=) c.3804G>C (p.Leu1268=) c.1777G>C c.*1100G>C (n.*1100G>C) n.4743G>C n.3344G>C c.3855G>C (p.Leu1285=) c.3903G>C (p.Leu1301=) c.3963G>C (p.Leu1321=) c.3513G>C (p.Leu1171=) c.1815G>C (p.Leu605=) c.1632G>C (p.Leu544=) c.3864G>C (p.Leu1288=) c.3816G>C (p.Leu1272=) c.3585G>C (p.Leu1195=) c.3486G>C (p.Leu1162=) c.2667G>C (p.Leu889=) n.4218G>C | ClinVar dbSNP |
| 13 | g.51937298C>T | CA6988521 | ATP7B | c.*1649G>A (n.*1649G>A) c.*2743G>A (n.*2743G>A) c.3378G>A (p.Leu1126=) c.3999G>A (p.Leu1333=) c.3666G>A (p.Leu1222=) c.3747G>A (p.Leu1249=) n.1322G>A c.3765G>A (p.Leu1255=) n.4138G>A n.865G>A c.2934G>A (p.Leu978=) c.2709G>A (p.Leu903=) c.3804G>A (p.Leu1268=) c.1777G>A c.*1100G>A (n.*1100G>A) n.4743G>A n.3344G>A c.3855G>A (p.Leu1285=) c.3903G>A (p.Leu1301=) c.3963G>A (p.Leu1321=) c.3513G>A (p.Leu1171=) c.1815G>A (p.Leu605=) c.1632G>A (p.Leu544=) c.3864G>A (p.Leu1288=) c.3816G>A (p.Leu1272=) c.3585G>A (p.Leu1195=) c.3486G>A (p.Leu1162=) c.2667G>A (p.Leu889=) n.4218G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51937299A>C | CA388020849 | ATP7B | c.*1648T>G (n.*1648T>G) c.*2742T>G (n.*2742T>G) c.3377T>G (p.Leu1126Arg) c.3998T>G (p.Leu1333Arg) c.3665T>G (p.Leu1222Arg) c.3746T>G (p.Leu1249Arg) n.1321T>G c.3764T>G (p.Leu1255Arg) n.4137T>G n.864T>G c.2933T>G (p.Leu978Arg) c.2708T>G (p.Leu903Arg) c.3803T>G (p.Leu1268Arg) c.1776T>G c.*1099T>G (n.*1099T>G) n.4742T>G n.3343T>G c.3854T>G (p.Leu1285Arg) c.3902T>G (p.Leu1301Arg) c.3962T>G (p.Leu1321Arg) c.3512T>G (p.Leu1171Arg) c.1814T>G (p.Leu605Arg) c.1631T>G (p.Leu544Arg) c.3863T>G (p.Leu1288Arg) c.3815T>G (p.Leu1272Arg) c.3584T>G (p.Leu1195Arg) c.3485T>G (p.Leu1162Arg) c.2666T>G (p.Leu889Arg) n.4217T>G | |
| 13 | g.51937299A>G | CA388020847 | ATP7B | c.*1648T>C (n.*1648T>C) c.*2742T>C (n.*2742T>C) c.3377T>C (p.Leu1126Pro) c.3998T>C (p.Leu1333Pro) c.3665T>C (p.Leu1222Pro) c.3746T>C (p.Leu1249Pro) n.1321T>C c.3764T>C (p.Leu1255Pro) n.4137T>C n.864T>C c.2933T>C (p.Leu978Pro) c.2708T>C (p.Leu903Pro) c.3803T>C (p.Leu1268Pro) c.1776T>C c.*1099T>C (n.*1099T>C) n.4742T>C n.3343T>C c.3854T>C (p.Leu1285Pro) c.3902T>C (p.Leu1301Pro) c.3962T>C (p.Leu1321Pro) c.3512T>C (p.Leu1171Pro) c.1814T>C (p.Leu605Pro) c.1631T>C (p.Leu544Pro) c.3863T>C (p.Leu1288Pro) c.3815T>C (p.Leu1272Pro) c.3584T>C (p.Leu1195Pro) c.3485T>C (p.Leu1162Pro) c.2666T>C (p.Leu889Pro) n.4217T>C | |
| 13 | g.51937299A>T | CA388020848 | ATP7B | c.*1648T>A (n.*1648T>A) c.*2742T>A (n.*2742T>A) c.3377T>A (p.Leu1126Gln) c.3998T>A (p.Leu1333Gln) c.3665T>A (p.Leu1222Gln) c.3746T>A (p.Leu1249Gln) n.1321T>A c.3764T>A (p.Leu1255Gln) n.4137T>A n.864T>A c.2933T>A (p.Leu978Gln) c.2708T>A (p.Leu903Gln) c.3803T>A (p.Leu1268Gln) c.1776T>A c.*1099T>A (n.*1099T>A) n.4742T>A n.3343T>A c.3854T>A (p.Leu1285Gln) c.3902T>A (p.Leu1301Gln) c.3962T>A (p.Leu1321Gln) c.3512T>A (p.Leu1171Gln) c.1814T>A (p.Leu605Gln) c.1631T>A (p.Leu544Gln) c.3863T>A (p.Leu1288Gln) c.3815T>A (p.Leu1272Gln) c.3584T>A (p.Leu1195Gln) c.3485T>A (p.Leu1162Gln) c.2666T>A (p.Leu889Gln) n.4217T>A | |
| 13 | g.51937300G>A | CA483893468 | ATP7B | c.*1647C>T (n.*1647C>T) c.*2741C>T (n.*2741C>T) c.3376C>T (p.Leu1126=) c.3997C>T (p.Leu1333=) c.3664C>T (p.Leu1222=) c.3745C>T (p.Leu1249=) n.1320C>T c.3763C>T (p.Leu1255=) n.4136C>T n.863C>T c.2932C>T (p.Leu978=) c.2707C>T (p.Leu903=) c.3802C>T (p.Leu1268=) c.1775C>T c.*1098C>T (n.*1098C>T) n.4741C>T n.3342C>T c.3853C>T (p.Leu1285=) c.3901C>T (p.Leu1301=) c.3961C>T (p.Leu1321=) c.3511C>T (p.Leu1171=) c.1813C>T (p.Leu605=) c.1630C>T (p.Leu544=) c.3862C>T (p.Leu1288=) c.3814C>T (p.Leu1272=) c.3583C>T (p.Leu1195=) c.3484C>T (p.Leu1162=) c.2665C>T (p.Leu889=) n.4216C>T | |
| 13 | g.51937300G>C | CA388020850 | ATP7B | c.*1647C>G (n.*1647C>G) c.*2741C>G (n.*2741C>G) c.3376C>G (p.Leu1126Val) c.3997C>G (p.Leu1333Val) c.3664C>G (p.Leu1222Val) c.3745C>G (p.Leu1249Val) n.1320C>G c.3763C>G (p.Leu1255Val) n.4136C>G n.863C>G c.2932C>G (p.Leu978Val) c.2707C>G (p.Leu903Val) c.3802C>G (p.Leu1268Val) c.1775C>G c.*1098C>G (n.*1098C>G) n.4741C>G n.3342C>G c.3853C>G (p.Leu1285Val) c.3901C>G (p.Leu1301Val) c.3961C>G (p.Leu1321Val) c.3511C>G (p.Leu1171Val) c.1813C>G (p.Leu605Val) c.1630C>G (p.Leu544Val) c.3862C>G (p.Leu1288Val) c.3814C>G (p.Leu1272Val) c.3583C>G (p.Leu1195Val) c.3484C>G (p.Leu1162Val) c.2665C>G (p.Leu889Val) n.4216C>G | dbSNP gnomAD v4 |
| 13 | g.51937300G>T | CA388020851 | ATP7B | c.*1647C>A (n.*1647C>A) c.*2741C>A (n.*2741C>A) c.3376C>A (p.Leu1126Met) c.3997C>A (p.Leu1333Met) c.3664C>A (p.Leu1222Met) c.3745C>A (p.Leu1249Met) n.1320C>A c.3763C>A (p.Leu1255Met) n.4136C>A n.863C>A c.2932C>A (p.Leu978Met) c.2707C>A (p.Leu903Met) c.3802C>A (p.Leu1268Met) c.1775C>A c.*1098C>A (n.*1098C>A) n.4741C>A n.3342C>A c.3853C>A (p.Leu1285Met) c.3901C>A (p.Leu1301Met) c.3961C>A (p.Leu1321Met) c.3511C>A (p.Leu1171Met) c.1813C>A (p.Leu605Met) c.1630C>A (p.Leu544Met) c.3862C>A (p.Leu1288Met) c.3814C>A (p.Leu1272Met) c.3583C>A (p.Leu1195Met) c.3484C>A (p.Leu1162Met) c.2665C>A (p.Leu889Met) n.4216C>A | |
| 13 | g.51937301G>A | CA483893469 | ATP7B | c.*1646C>T (n.*1646C>T) c.*2740C>T (n.*2740C>T) c.3375C>T (p.Asn1125=) c.3996C>T (p.Asn1332=) c.3663C>T (p.Asn1221=) c.3744C>T (p.Asn1248=) n.1319C>T c.3762C>T (p.Asn1254=) n.4135C>T n.862C>T c.2931C>T (p.Asn977=) c.2706C>T (p.Asn902=) c.3801C>T (p.Asn1267=) c.1774C>T c.*1097C>T (n.*1097C>T) n.4740C>T n.3341C>T c.3852C>T (p.Asn1284=) c.3900C>T (p.Asn1300=) c.3960C>T (p.Asn1320=) c.3510C>T (p.Asn1170=) c.1812C>T (p.Asn604=) c.1629C>T (p.Asn543=) c.3861C>T (p.Asn1287=) c.3813C>T (p.Asn1271=) c.3582C>T (p.Asn1194=) c.3483C>T (p.Asn1161=) c.2664C>T (p.Asn888=) n.4215C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.51937301G>C | CA388020853 | ATP7B | c.*1646C>G (n.*1646C>G) c.*2740C>G (n.*2740C>G) c.3375C>G (p.Asn1125Lys) c.3996C>G (p.Asn1332Lys) c.3663C>G (p.Asn1221Lys) c.3744C>G (p.Asn1248Lys) n.1319C>G c.3762C>G (p.Asn1254Lys) n.4135C>G n.862C>G c.2931C>G (p.Asn977Lys) c.2706C>G (p.Asn902Lys) c.3801C>G (p.Asn1267Lys) c.1774C>G c.*1097C>G (n.*1097C>G) n.4740C>G n.3341C>G c.3852C>G (p.Asn1284Lys) c.3900C>G (p.Asn1300Lys) c.3960C>G (p.Asn1320Lys) c.3510C>G (p.Asn1170Lys) c.1812C>G (p.Asn604Lys) c.1629C>G (p.Asn543Lys) c.3861C>G (p.Asn1287Lys) c.3813C>G (p.Asn1271Lys) c.3582C>G (p.Asn1194Lys) c.3483C>G (p.Asn1161Lys) c.2664C>G (p.Asn888Lys) n.4215C>G | |
| 13 | g.51937301G>T | CA388020854 | ATP7B | c.*1646C>A (n.*1646C>A) c.*2740C>A (n.*2740C>A) c.3375C>A (p.Asn1125Lys) c.3996C>A (p.Asn1332Lys) c.3663C>A (p.Asn1221Lys) c.3744C>A (p.Asn1248Lys) n.1319C>A c.3762C>A (p.Asn1254Lys) n.4135C>A n.862C>A c.2931C>A (p.Asn977Lys) c.2706C>A (p.Asn902Lys) c.3801C>A (p.Asn1267Lys) c.1774C>A c.*1097C>A (n.*1097C>A) n.4740C>A n.3341C>A c.3852C>A (p.Asn1284Lys) c.3900C>A (p.Asn1300Lys) c.3960C>A (p.Asn1320Lys) c.3510C>A (p.Asn1170Lys) c.1812C>A (p.Asn604Lys) c.1629C>A (p.Asn543Lys) c.3861C>A (p.Asn1287Lys) c.3813C>A (p.Asn1271Lys) c.3582C>A (p.Asn1194Lys) c.3483C>A (p.Asn1161Lys) c.2664C>A (p.Asn888Lys) n.4215C>A | |
| 13 | g.51937302T>A | CA388020857 | ATP7B | c.*1645A>T (n.*1645A>T) c.*2739A>T (n.*2739A>T) c.3374A>T (p.Asn1125Ile) c.3995A>T (p.Asn1332Ile) c.3662A>T (p.Asn1221Ile) c.3743A>T (p.Asn1248Ile) n.1318A>T c.3761A>T (p.Asn1254Ile) n.4134A>T n.861A>T c.2930A>T (p.Asn977Ile) c.2705A>T (p.Asn902Ile) c.3800A>T (p.Asn1267Ile) c.1773A>T c.*1096A>T (n.*1096A>T) n.4739A>T n.3340A>T c.3851A>T (p.Asn1284Ile) c.3899A>T (p.Asn1300Ile) c.3959A>T (p.Asn1320Ile) c.3509A>T (p.Asn1170Ile) c.1811A>T (p.Asn604Ile) c.1628A>T (p.Asn543Ile) c.3860A>T (p.Asn1287Ile) c.3812A>T (p.Asn1271Ile) c.3581A>T (p.Asn1194Ile) c.3482A>T (p.Asn1161Ile) c.2663A>T (p.Asn888Ile) n.4214A>T | |
| 13 | g.51937302T>C | CA388020858 | ATP7B | c.*1645A>G (n.*1645A>G) c.*2739A>G (n.*2739A>G) c.3374A>G (p.Asn1125Ser) c.3995A>G (p.Asn1332Ser) c.3662A>G (p.Asn1221Ser) c.3743A>G (p.Asn1248Ser) n.1318A>G c.3761A>G (p.Asn1254Ser) n.4134A>G n.861A>G c.2930A>G (p.Asn977Ser) c.2705A>G (p.Asn902Ser) c.3800A>G (p.Asn1267Ser) c.1773A>G c.*1096A>G (n.*1096A>G) n.4739A>G n.3340A>G c.3851A>G (p.Asn1284Ser) c.3899A>G (p.Asn1300Ser) c.3959A>G (p.Asn1320Ser) c.3509A>G (p.Asn1170Ser) c.1811A>G (p.Asn604Ser) c.1628A>G (p.Asn543Ser) c.3860A>G (p.Asn1287Ser) c.3812A>G (p.Asn1271Ser) c.3581A>G (p.Asn1194Ser) c.3482A>G (p.Asn1161Ser) c.2663A>G (p.Asn888Ser) n.4214A>G | |
| 13 | g.51937302T>G | CA388020860 | ATP7B | c.*1645A>C (n.*1645A>C) c.*2739A>C (n.*2739A>C) c.3374A>C (p.Asn1125Thr) c.3995A>C (p.Asn1332Thr) c.3662A>C (p.Asn1221Thr) c.3743A>C (p.Asn1248Thr) n.1318A>C c.3761A>C (p.Asn1254Thr) n.4134A>C n.861A>C c.2930A>C (p.Asn977Thr) c.2705A>C (p.Asn902Thr) c.3800A>C (p.Asn1267Thr) c.1773A>C c.*1096A>C (n.*1096A>C) n.4739A>C n.3340A>C c.3851A>C (p.Asn1284Thr) c.3899A>C (p.Asn1300Thr) c.3959A>C (p.Asn1320Thr) c.3509A>C (p.Asn1170Thr) c.1811A>C (p.Asn604Thr) c.1628A>C (p.Asn543Thr) c.3860A>C (p.Asn1287Thr) c.3812A>C (p.Asn1271Thr) c.3581A>C (p.Asn1194Thr) c.3482A>C (p.Asn1161Thr) c.2663A>C (p.Asn888Thr) n.4214A>C | |
| 13 | g.51937303T>A | CA388020863 | ATP7B | c.*1644A>T (n.*1644A>T) c.*2738A>T (n.*2738A>T) c.3373A>T (p.Asn1125Tyr) c.3994A>T (p.Asn1332Tyr) c.3661A>T (p.Asn1221Tyr) c.3742A>T (p.Asn1248Tyr) n.1317A>T c.3760A>T (p.Asn1254Tyr) n.4133A>T n.860A>T c.2929A>T (p.Asn977Tyr) c.2704A>T (p.Asn902Tyr) c.3799A>T (p.Asn1267Tyr) c.1772A>T c.*1095A>T (n.*1095A>T) n.4738A>T n.3339A>T c.3850A>T (p.Asn1284Tyr) c.3898A>T (p.Asn1300Tyr) c.3958A>T (p.Asn1320Tyr) c.3508A>T (p.Asn1170Tyr) c.1810A>T (p.Asn604Tyr) c.1627A>T (p.Asn543Tyr) c.3859A>T (p.Asn1287Tyr) c.3811A>T (p.Asn1271Tyr) c.3580A>T (p.Asn1194Tyr) c.3481A>T (p.Asn1161Tyr) c.2662A>T (p.Asn888Tyr) n.4213A>T | gnomAD v4 |
| 13 | g.51937303T>C | CA388020866 | ATP7B | c.*1644A>G (n.*1644A>G) c.*2738A>G (n.*2738A>G) c.3373A>G (p.Asn1125Asp) c.3994A>G (p.Asn1332Asp) c.3661A>G (p.Asn1221Asp) c.3742A>G (p.Asn1248Asp) n.1317A>G c.3760A>G (p.Asn1254Asp) n.4133A>G n.860A>G c.2929A>G (p.Asn977Asp) c.2704A>G (p.Asn902Asp) c.3799A>G (p.Asn1267Asp) c.1772A>G c.*1095A>G (n.*1095A>G) n.4738A>G n.3339A>G c.3850A>G (p.Asn1284Asp) c.3898A>G (p.Asn1300Asp) c.3958A>G (p.Asn1320Asp) c.3508A>G (p.Asn1170Asp) c.1810A>G (p.Asn604Asp) c.1627A>G (p.Asn543Asp) c.3859A>G (p.Asn1287Asp) c.3811A>G (p.Asn1271Asp) c.3580A>G (p.Asn1194Asp) c.3481A>G (p.Asn1161Asp) c.2662A>G (p.Asn888Asp) n.4213A>G | |
| 13 | g.51937303T>G | CA388020869 | ATP7B | c.*1644A>C (n.*1644A>C) c.*2738A>C (n.*2738A>C) c.3373A>C (p.Asn1125His) c.3994A>C (p.Asn1332His) c.3661A>C (p.Asn1221His) c.3742A>C (p.Asn1248His) n.1317A>C c.3760A>C (p.Asn1254His) n.4133A>C n.860A>C c.2929A>C (p.Asn977His) c.2704A>C (p.Asn902His) c.3799A>C (p.Asn1267His) c.1772A>C c.*1095A>C (n.*1095A>C) n.4738A>C n.3339A>C c.3850A>C (p.Asn1284His) c.3898A>C (p.Asn1300His) c.3958A>C (p.Asn1320His) c.3508A>C (p.Asn1170His) c.1810A>C (p.Asn604His) c.1627A>C (p.Asn543His) c.3859A>C (p.Asn1287His) c.3811A>C (p.Asn1271His) c.3580A>C (p.Asn1194His) c.3481A>C (p.Asn1161His) c.2662A>C (p.Asn888His) n.4213A>C | |
| 13 | g.51937303_51937307delinsTATAA | CA2091553350 | ATP7B | c.*1640_*1644delinsTTATA (n.*1640_*1644delinsTTATA) c.*2734_*2738delinsTTATA (n.*2734_*2738delinsTTATA) c.3369_3373delinsTTATA (p.Ile1123=) c.3990_3994delinsTTATA (p.Ile1330=) c.3657_3661delinsTTATA (p.Ile1219=) c.3738_3742delinsTTATA (p.Ile1246=) n.1313_1317delinsTTATA c.3756_3760delinsTTATA (p.Ile1252=) n.4129_4133delinsTTATA n.856_860delinsTTATA c.2925_2929delinsTTATA (p.Ile975=) c.2700_2704delinsTTATA (p.Ile900=) c.3795_3799delinsTTATA (p.Ile1265=) c.1768_1772delinsTTATA c.*1091_*1095delinsTTATA (n.*1091_*1095delinsTTATA) n.4734_4738delinsTTATA n.3335_3339delinsTTATA c.3846_3850delinsTTATA (p.Ile1282=) c.3894_3898delinsTTATA (p.Ile1298=) c.3954_3958delinsTTATA (p.Ile1318=) c.3504_3508delinsTTATA (p.Ile1168=) c.1806_1810delinsTTATA (p.Ile602=) c.1623_1627delinsTTATA (p.Ile541=) c.3855_3859delinsTTATA (p.Ile1285=) c.3807_3811delinsTTATA (p.Ile1269=) c.3576_3580delinsTTATA (p.Ile1192=) c.3477_3481delinsTTATA (p.Ile1159=) c.2658_2662delinsTTATA (p.Ile886=) n.4209_4213delinsTTATA | |
| 13 | g.51937304A>C | CA388020874 | ATP7B | c.*1643T>G (n.*1643T>G) c.*2737T>G (n.*2737T>G) c.3372T>G (p.Tyr1124Ter) c.3993T>G (p.Tyr1331Ter) c.3660T>G (p.Tyr1220Ter) c.3741T>G (p.Tyr1247Ter) n.1316T>G c.3759T>G (p.Tyr1253Ter) n.4132T>G n.859T>G c.2928T>G (p.Tyr976Ter) c.2703T>G (p.Tyr901Ter) c.3798T>G (p.Tyr1266Ter) c.1771T>G c.*1094T>G (n.*1094T>G) n.4737T>G n.3338T>G c.3849T>G (p.Tyr1283Ter) c.3897T>G (p.Tyr1299Ter) c.3957T>G (p.Tyr1319Ter) c.3507T>G (p.Tyr1169Ter) c.1809T>G (p.Tyr603Ter) c.1626T>G (p.Tyr542Ter) c.3858T>G (p.Tyr1286Ter) c.3810T>G (p.Tyr1270Ter) c.3579T>G (p.Tyr1193Ter) c.3480T>G (p.Tyr1160Ter) c.2661T>G (p.Tyr887Ter) n.4212T>G | |
| 13 | g.51937304A>G | CA483893471 | ATP7B | c.*1643T>C (n.*1643T>C) c.*2737T>C (n.*2737T>C) c.3372T>C (p.Tyr1124=) c.3993T>C (p.Tyr1331=) c.3660T>C (p.Tyr1220=) c.3741T>C (p.Tyr1247=) n.1316T>C c.3759T>C (p.Tyr1253=) n.4132T>C n.859T>C c.2928T>C (p.Tyr976=) c.2703T>C (p.Tyr901=) c.3798T>C (p.Tyr1266=) c.1771T>C c.*1094T>C (n.*1094T>C) n.4737T>C n.3338T>C c.3849T>C (p.Tyr1283=) c.3897T>C (p.Tyr1299=) c.3957T>C (p.Tyr1319=) c.3507T>C (p.Tyr1169=) c.1809T>C (p.Tyr603=) c.1626T>C (p.Tyr542=) c.3858T>C (p.Tyr1286=) c.3810T>C (p.Tyr1270=) c.3579T>C (p.Tyr1193=) c.3480T>C (p.Tyr1160=) c.2661T>C (p.Tyr887=) n.4212T>C | |
| 13 | g.51937304A>T | CA388020872 | ATP7B | c.*1643T>A (n.*1643T>A) c.*2737T>A (n.*2737T>A) c.3372T>A (p.Tyr1124Ter) c.3993T>A (p.Tyr1331Ter) c.3660T>A (p.Tyr1220Ter) c.3741T>A (p.Tyr1247Ter) n.1316T>A c.3759T>A (p.Tyr1253Ter) n.4132T>A n.859T>A c.2928T>A (p.Tyr976Ter) c.2703T>A (p.Tyr901Ter) c.3798T>A (p.Tyr1266Ter) c.1771T>A c.*1094T>A (n.*1094T>A) n.4737T>A n.3338T>A c.3849T>A (p.Tyr1283Ter) c.3897T>A (p.Tyr1299Ter) c.3957T>A (p.Tyr1319Ter) c.3507T>A (p.Tyr1169Ter) c.1809T>A (p.Tyr603Ter) c.1626T>A (p.Tyr542Ter) c.3858T>A (p.Tyr1286Ter) c.3810T>A (p.Tyr1270Ter) c.3579T>A (p.Tyr1193Ter) c.3480T>A (p.Tyr1160Ter) c.2661T>A (p.Tyr887Ter) n.4212T>A | |
| 13 | g.51937306_51937309del | CA483893470 | ATP7B | c.*1640_*1643del (n.*1640_*1643del) c.*2734_*2737del (n.*2734_*2737del) c.3369_3372del (p.Tyr1124ThrfsTer?) c.3990_3993del (p.Tyr1331ThrfsTer?) c.3657_3660del (p.Tyr1220ThrfsTer?) c.3738_3741del (p.Tyr1247ThrfsTer?) n.1313_1316del c.3756_3759del (p.Tyr1253ThrfsTer?) n.4129_4132del n.856_859del c.2925_2928del (p.Tyr976ThrfsTer?) c.2700_2703del (p.Tyr901ThrfsTer?) c.3795_3798del (p.Tyr1266ThrfsTer?) c.1768_1771del c.*1091_*1094del (n.*1091_*1094del) n.4734_4737del n.3335_3338del c.3846_3849del (p.Tyr1283ThrfsTer?) c.3894_3897del (p.Tyr1299ThrfsTer?) c.3954_3957del (p.Tyr1319ThrfsTer?) c.3504_3507del (p.Tyr1169ThrfsTer?) c.1806_1809del (p.Tyr603ThrfsTer?) c.1623_1626del (p.Tyr542ThrfsTer?) c.3855_3858del (p.Tyr1286ThrfsTer?) c.3807_3810del (p.Tyr1270ThrfsTer?) c.3576_3579del (p.Tyr1193ThrfsTer?) c.3477_3480del (p.Tyr1160ThrfsTer?) c.2658_2661del (p.Tyr887ThrfsTer?) n.4209_4212del | ClinVar dbSNP gnomAD v4 |
| 13 | g.51937305T>A | CA388020877 | ATP7B | c.*1642A>T (n.*1642A>T) c.*2736A>T (n.*2736A>T) c.3371A>T (p.Tyr1124Phe) c.3992A>T (p.Tyr1331Phe) c.3659A>T (p.Tyr1220Phe) c.3740A>T (p.Tyr1247Phe) n.1315A>T c.3758A>T (p.Tyr1253Phe) n.4131A>T n.858A>T c.2927A>T (p.Tyr976Phe) c.2702A>T (p.Tyr901Phe) c.3797A>T (p.Tyr1266Phe) c.1770A>T c.*1093A>T (n.*1093A>T) n.4736A>T n.3337A>T c.3848A>T (p.Tyr1283Phe) c.3896A>T (p.Tyr1299Phe) c.3956A>T (p.Tyr1319Phe) c.3506A>T (p.Tyr1169Phe) c.1808A>T (p.Tyr603Phe) c.1625A>T (p.Tyr542Phe) c.3857A>T (p.Tyr1286Phe) c.3809A>T (p.Tyr1270Phe) c.3578A>T (p.Tyr1193Phe) c.3479A>T (p.Tyr1160Phe) c.2660A>T (p.Tyr887Phe) n.4211A>T | |
| 13 | g.51937305T>C | CA388020878 | ATP7B | c.*1642A>G (n.*1642A>G) c.*2736A>G (n.*2736A>G) c.3371A>G (p.Tyr1124Cys) c.3992A>G (p.Tyr1331Cys) c.3659A>G (p.Tyr1220Cys) c.3740A>G (p.Tyr1247Cys) n.1315A>G c.3758A>G (p.Tyr1253Cys) n.4131A>G n.858A>G c.2927A>G (p.Tyr976Cys) c.2702A>G (p.Tyr901Cys) c.3797A>G (p.Tyr1266Cys) c.1770A>G c.*1093A>G (n.*1093A>G) n.4736A>G n.3337A>G c.3848A>G (p.Tyr1283Cys) c.3896A>G (p.Tyr1299Cys) c.3956A>G (p.Tyr1319Cys) c.3506A>G (p.Tyr1169Cys) c.1808A>G (p.Tyr603Cys) c.1625A>G (p.Tyr542Cys) c.3857A>G (p.Tyr1286Cys) c.3809A>G (p.Tyr1270Cys) c.3578A>G (p.Tyr1193Cys) c.3479A>G (p.Tyr1160Cys) c.2660A>G (p.Tyr887Cys) n.4211A>G | gnomAD v4 |
| 13 | g.51937305T>G | CA388020881 | ATP7B | c.*1642A>C (n.*1642A>C) c.*2736A>C (n.*2736A>C) c.3371A>C (p.Tyr1124Ser) c.3992A>C (p.Tyr1331Ser) c.3659A>C (p.Tyr1220Ser) c.3740A>C (p.Tyr1247Ser) n.1315A>C c.3758A>C (p.Tyr1253Ser) n.4131A>C n.858A>C c.2927A>C (p.Tyr976Ser) c.2702A>C (p.Tyr901Ser) c.3797A>C (p.Tyr1266Ser) c.1770A>C c.*1093A>C (n.*1093A>C) n.4736A>C n.3337A>C c.3848A>C (p.Tyr1283Ser) c.3896A>C (p.Tyr1299Ser) c.3956A>C (p.Tyr1319Ser) c.3506A>C (p.Tyr1169Ser) c.1808A>C (p.Tyr603Ser) c.1625A>C (p.Tyr542Ser) c.3857A>C (p.Tyr1286Ser) c.3809A>C (p.Tyr1270Ser) c.3578A>C (p.Tyr1193Ser) c.3479A>C (p.Tyr1160Ser) c.2660A>C (p.Tyr887Ser) n.4211A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.51937305T= | CA2091553367 | ATP7B | c.*1642A= (n.*1642A=) c.*2736A= (n.*2736A=) c.3371A= (p.Tyr1124=) c.3992A= (p.Tyr1331=) c.3659A= (p.Tyr1220=) c.3740A= (p.Tyr1247=) n.1315A= c.3758A= (p.Tyr1253=) n.4131A= n.858A= c.2927A= (p.Tyr976=) c.2702A= (p.Tyr901=) c.3797A= (p.Tyr1266=) c.1770A= c.*1093A= (n.*1093A=) n.4736A= n.3337A= c.3848A= (p.Tyr1283=) c.3896A= (p.Tyr1299=) c.3956A= (p.Tyr1319=) c.3506A= (p.Tyr1169=) c.1808A= (p.Tyr603=) c.1625A= (p.Tyr542=) c.3857A= (p.Tyr1286=) c.3809A= (p.Tyr1270=) c.3578A= (p.Tyr1193=) c.3479A= (p.Tyr1160=) c.2660A= (p.Tyr887=) n.4211A= | |
| 13 | g.51937306A>C | CA388020885 | ATP7B | c.*1641T>G (n.*1641T>G) c.*2735T>G (n.*2735T>G) c.3370T>G (p.Tyr1124Asp) c.3991T>G (p.Tyr1331Asp) c.3658T>G (p.Tyr1220Asp) c.3739T>G (p.Tyr1247Asp) n.1314T>G c.3757T>G (p.Tyr1253Asp) n.4130T>G n.857T>G c.2926T>G (p.Tyr976Asp) c.2701T>G (p.Tyr901Asp) c.3796T>G (p.Tyr1266Asp) c.1769T>G c.*1092T>G (n.*1092T>G) n.4735T>G n.3336T>G c.3847T>G (p.Tyr1283Asp) c.3895T>G (p.Tyr1299Asp) c.3955T>G (p.Tyr1319Asp) c.3505T>G (p.Tyr1169Asp) c.1807T>G (p.Tyr603Asp) c.1624T>G (p.Tyr542Asp) c.3856T>G (p.Tyr1286Asp) c.3808T>G (p.Tyr1270Asp) c.3577T>G (p.Tyr1193Asp) c.3478T>G (p.Tyr1160Asp) c.2659T>G (p.Tyr887Asp) n.4210T>G | |
| 13 | g.51937306A>G | CA388020891 | ATP7B | c.*1641T>C (n.*1641T>C) c.*2735T>C (n.*2735T>C) c.3370T>C (p.Tyr1124His) c.3991T>C (p.Tyr1331His) c.3658T>C (p.Tyr1220His) c.3739T>C (p.Tyr1247His) n.1314T>C c.3757T>C (p.Tyr1253His) n.4130T>C n.857T>C c.2926T>C (p.Tyr976His) c.2701T>C (p.Tyr901His) c.3796T>C (p.Tyr1266His) c.1769T>C c.*1092T>C (n.*1092T>C) n.4735T>C n.3336T>C c.3847T>C (p.Tyr1283His) c.3895T>C (p.Tyr1299His) c.3955T>C (p.Tyr1319His) c.3505T>C (p.Tyr1169His) c.1807T>C (p.Tyr603His) c.1624T>C (p.Tyr542His) c.3856T>C (p.Tyr1286His) c.3808T>C (p.Tyr1270His) c.3577T>C (p.Tyr1193His) c.3478T>C (p.Tyr1160His) c.2659T>C (p.Tyr887His) n.4210T>C | |
| 13 | g.51937306A>T | CA388020894 | ATP7B | c.*1641T>A (n.*1641T>A) c.*2735T>A (n.*2735T>A) c.3370T>A (p.Tyr1124Asn) c.3991T>A (p.Tyr1331Asn) c.3658T>A (p.Tyr1220Asn) c.3739T>A (p.Tyr1247Asn) n.1314T>A c.3757T>A (p.Tyr1253Asn) n.4130T>A n.857T>A c.2926T>A (p.Tyr976Asn) c.2701T>A (p.Tyr901Asn) c.3796T>A (p.Tyr1266Asn) c.1769T>A c.*1092T>A (n.*1092T>A) n.4735T>A n.3336T>A c.3847T>A (p.Tyr1283Asn) c.3895T>A (p.Tyr1299Asn) c.3955T>A (p.Tyr1319Asn) c.3505T>A (p.Tyr1169Asn) c.1807T>A (p.Tyr603Asn) c.1624T>A (p.Tyr542Asn) c.3856T>A (p.Tyr1286Asn) c.3808T>A (p.Tyr1270Asn) c.3577T>A (p.Tyr1193Asn) c.3478T>A (p.Tyr1160Asn) c.2659T>A (p.Tyr887Asn) n.4210T>A | |
| 13 | g.51937307A= | CA2091553372 | ATP7B | c.*1640T= (n.*1640T=) c.*2734T= (n.*2734T=) c.3369T= (p.Ile1123=) c.3990T= (p.Ile1330=) c.3657T= (p.Ile1219=) c.3738T= (p.Ile1246=) n.1313T= c.3756T= (p.Ile1252=) n.4129T= n.856T= c.2925T= (p.Ile975=) c.2700T= (p.Ile900=) c.3795T= (p.Ile1265=) c.1768T= c.*1091T= (n.*1091T=) n.4734T= n.3335T= c.3846T= (p.Ile1282=) c.3894T= (p.Ile1298=) c.3954T= (p.Ile1318=) c.3504T= (p.Ile1168=) c.1806T= (p.Ile602=) c.1623T= (p.Ile541=) c.3855T= (p.Ile1285=) c.3807T= (p.Ile1269=) c.3576T= (p.Ile1192=) c.3477T= (p.Ile1159=) c.2658T= (p.Ile886=) n.4209T= | |
| 13 | g.51937307A>C | CA388020898 | ATP7B | c.*1640T>G (n.*1640T>G) c.*2734T>G (n.*2734T>G) c.3369T>G (p.Ile1123Met) c.3990T>G (p.Ile1330Met) c.3657T>G (p.Ile1219Met) c.3738T>G (p.Ile1246Met) n.1313T>G c.3756T>G (p.Ile1252Met) n.4129T>G n.856T>G c.2925T>G (p.Ile975Met) c.2700T>G (p.Ile900Met) c.3795T>G (p.Ile1265Met) c.1768T>G c.*1091T>G (n.*1091T>G) n.4734T>G n.3335T>G c.3846T>G (p.Ile1282Met) c.3894T>G (p.Ile1298Met) c.3954T>G (p.Ile1318Met) c.3504T>G (p.Ile1168Met) c.1806T>G (p.Ile602Met) c.1623T>G (p.Ile541Met) c.3855T>G (p.Ile1285Met) c.3807T>G (p.Ile1269Met) c.3576T>G (p.Ile1192Met) c.3477T>G (p.Ile1159Met) c.2658T>G (p.Ile886Met) n.4209T>G | |
| 13 | g.51937307A>G | CA483893473 | ATP7B | c.*1640T>C (n.*1640T>C) c.*2734T>C (n.*2734T>C) c.3369T>C (p.Ile1123=) c.3990T>C (p.Ile1330=) c.3657T>C (p.Ile1219=) c.3738T>C (p.Ile1246=) n.1313T>C c.3756T>C (p.Ile1252=) n.4129T>C n.856T>C c.2925T>C (p.Ile975=) c.2700T>C (p.Ile900=) c.3795T>C (p.Ile1265=) c.1768T>C c.*1091T>C (n.*1091T>C) n.4734T>C n.3335T>C c.3846T>C (p.Ile1282=) c.3894T>C (p.Ile1298=) c.3954T>C (p.Ile1318=) c.3504T>C (p.Ile1168=) c.1806T>C (p.Ile602=) c.1623T>C (p.Ile541=) c.3855T>C (p.Ile1285=) c.3807T>C (p.Ile1269=) c.3576T>C (p.Ile1192=) c.3477T>C (p.Ile1159=) c.2658T>C (p.Ile886=) n.4209T>C | dbSNP gnomAD v4 |
| 13 | g.51937307A>T | CA483893472 | ATP7B | c.*1640T>A (n.*1640T>A) c.*2734T>A (n.*2734T>A) c.3369T>A (p.Ile1123=) c.3990T>A (p.Ile1330=) c.3657T>A (p.Ile1219=) c.3738T>A (p.Ile1246=) n.1313T>A c.3756T>A (p.Ile1252=) n.4129T>A n.856T>A c.2925T>A (p.Ile975=) c.2700T>A (p.Ile900=) c.3795T>A (p.Ile1265=) c.1768T>A c.*1091T>A (n.*1091T>A) n.4734T>A n.3335T>A c.3846T>A (p.Ile1282=) c.3894T>A (p.Ile1298=) c.3954T>A (p.Ile1318=) c.3504T>A (p.Ile1168=) c.1806T>A (p.Ile602=) c.1623T>A (p.Ile541=) c.3855T>A (p.Ile1285=) c.3807T>A (p.Ile1269=) c.3576T>A (p.Ile1192=) c.3477T>A (p.Ile1159=) c.2658T>A (p.Ile886=) n.4209T>A | |
| 13 | g.51937308A>C | CA388020902 | ATP7B | c.*1639T>G (n.*1639T>G) c.*2733T>G (n.*2733T>G) c.3368T>G (p.Ile1123Ser) c.3989T>G (p.Ile1330Ser) c.3656T>G (p.Ile1219Ser) c.3737T>G (p.Ile1246Ser) n.1312T>G c.3755T>G (p.Ile1252Ser) n.4128T>G n.855T>G c.2924T>G (p.Ile975Ser) c.2699T>G (p.Ile900Ser) c.3794T>G (p.Ile1265Ser) c.1767T>G c.*1090T>G (n.*1090T>G) n.4733T>G n.3334T>G c.3845T>G (p.Ile1282Ser) c.3893T>G (p.Ile1298Ser) c.3953T>G (p.Ile1318Ser) c.3503T>G (p.Ile1168Ser) c.1805T>G (p.Ile602Ser) c.1622T>G (p.Ile541Ser) c.3854T>G (p.Ile1285Ser) c.3806T>G (p.Ile1269Ser) c.3575T>G (p.Ile1192Ser) c.3476T>G (p.Ile1159Ser) c.2657T>G (p.Ile886Ser) n.4208T>G | |
| 13 | g.51937308A>G | CA388020904 | ATP7B | c.*1639T>C (n.*1639T>C) c.*2733T>C (n.*2733T>C) c.3368T>C (p.Ile1123Thr) c.3989T>C (p.Ile1330Thr) c.3656T>C (p.Ile1219Thr) c.3737T>C (p.Ile1246Thr) n.1312T>C c.3755T>C (p.Ile1252Thr) n.4128T>C n.855T>C c.2924T>C (p.Ile975Thr) c.2699T>C (p.Ile900Thr) c.3794T>C (p.Ile1265Thr) c.1767T>C c.*1090T>C (n.*1090T>C) n.4733T>C n.3334T>C c.3845T>C (p.Ile1282Thr) c.3893T>C (p.Ile1298Thr) c.3953T>C (p.Ile1318Thr) c.3503T>C (p.Ile1168Thr) c.1805T>C (p.Ile602Thr) c.1622T>C (p.Ile541Thr) c.3854T>C (p.Ile1285Thr) c.3806T>C (p.Ile1269Thr) c.3575T>C (p.Ile1192Thr) c.3476T>C (p.Ile1159Thr) c.2657T>C (p.Ile886Thr) n.4208T>C | |
| 13 | g.51937308A>T | CA388020906 | ATP7B | c.*1639T>A (n.*1639T>A) c.*2733T>A (n.*2733T>A) c.3368T>A (p.Ile1123Asn) c.3989T>A (p.Ile1330Asn) c.3656T>A (p.Ile1219Asn) c.3737T>A (p.Ile1246Asn) n.1312T>A c.3755T>A (p.Ile1252Asn) n.4128T>A n.855T>A c.2924T>A (p.Ile975Asn) c.2699T>A (p.Ile900Asn) c.3794T>A (p.Ile1265Asn) c.1767T>A c.*1090T>A (n.*1090T>A) n.4733T>A n.3334T>A c.3845T>A (p.Ile1282Asn) c.3893T>A (p.Ile1298Asn) c.3953T>A (p.Ile1318Asn) c.3503T>A (p.Ile1168Asn) c.1805T>A (p.Ile602Asn) c.1622T>A (p.Ile541Asn) c.3854T>A (p.Ile1285Asn) c.3806T>A (p.Ile1269Asn) c.3575T>A (p.Ile1192Asn) c.3476T>A (p.Ile1159Asn) c.2657T>A (p.Ile886Asn) n.4208T>A | |
| 13 | g.51937309T>A | CA388020909 | ATP7B | c.*1638A>T (n.*1638A>T) c.*2732A>T (n.*2732A>T) c.3367A>T (p.Ile1123Phe) c.3988A>T (p.Ile1330Phe) c.3655A>T (p.Ile1219Phe) c.3736A>T (p.Ile1246Phe) n.1311A>T c.3754A>T (p.Ile1252Phe) n.4127A>T n.854A>T c.2923A>T (p.Ile975Phe) c.2698A>T (p.Ile900Phe) c.3793A>T (p.Ile1265Phe) c.1766A>T c.*1089A>T (n.*1089A>T) n.4732A>T n.3333A>T c.3844A>T (p.Ile1282Phe) c.3892A>T (p.Ile1298Phe) c.3952A>T (p.Ile1318Phe) c.3502A>T (p.Ile1168Phe) c.1804A>T (p.Ile602Phe) c.1621A>T (p.Ile541Phe) c.3853A>T (p.Ile1285Phe) c.3805A>T (p.Ile1269Phe) c.3574A>T (p.Ile1192Phe) c.3475A>T (p.Ile1159Phe) c.2656A>T (p.Ile886Phe) n.4207A>T |