| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51937580_51937589del | CA2695218758 | ATP7B | c.*1444_*1453del (n.*1444_*1453del) c.*2538_*2547del (n.*2538_*2547del) c.3173_3182del (p.Val1058GlyfsTer?) c.3794_3803del (p.Val1265GlyfsTer?) c.3461_3470del (p.Val1154GlyfsTer?) c.3542_3551del (p.Val1181GlyfsTer?) n.1035_1044del c.3560_3569del (p.Val1187GlyfsTer?) n.3933_3942del n.660_669del c.2729_2738del (p.Val910GlyfsTer?) c.2504_2513del (p.Val835GlyfsTer?) c.3599_3608del (p.Val1200GlyfsTer?) c.1572_1581del c.*895_*904del (n.*895_*904del) n.4538_4547del n.3139_3148del c.3650_3659del (p.Val1217GlyfsTer?) c.3698_3707del (p.Val1233GlyfsTer?) c.3758_3767del (p.Val1253GlyfsTer?) c.3308_3317del (p.Val1103GlyfsTer?) c.1610_1619del (p.Val537GlyfsTer?) c.1427_1436del (p.Val476GlyfsTer?) c.3659_3668del (p.Val1220GlyfsTer?) c.3611_3620del (p.Val1204GlyfsTer?) c.3380_3389del (p.Val1127GlyfsTer?) c.3281_3290del (p.Val1094GlyfsTer?) c.2462_2471del (p.Val821GlyfsTer?) n.4013_4022del | |
| 13 | g.51937578_51937579delinsAT | CA2091554035 | ATP7B | c.*1450_*1451delinsAT (n.*1450_*1451delinsAT) c.*2544_*2545delinsAT (n.*2544_*2545delinsAT) c.3179_3180delinsAT (p.Asp1060=) c.3800_3801delinsAT (p.Asp1267=) c.3467_3468delinsAT (p.Asp1156=) c.3548_3549delinsAT (p.Asp1183=) n.1041_1042delinsAT c.3566_3567delinsAT (p.Asp1189=) n.3939_3940delinsAT n.666_667delinsAT c.2735_2736delinsAT (p.Asp912=) c.2510_2511delinsAT (p.Asp837=) c.3605_3606delinsAT (p.Asp1202=) c.1578_1579delinsAT c.*901_*902delinsAT (n.*901_*902delinsAT) n.4544_4545delinsAT n.3145_3146delinsAT c.3656_3657delinsAT (p.Asp1219=) c.3704_3705delinsAT (p.Asp1235=) c.3764_3765delinsAT (p.Asp1255=) c.3314_3315delinsAT (p.Asp1105=) c.1616_1617delinsAT (p.Asp539=) c.1433_1434delinsAT (p.Asp478=) c.3665_3666delinsAT (p.Asp1222=) c.3617_3618delinsAT (p.Asp1206=) c.3386_3387delinsAT (p.Asp1129=) c.3287_3288delinsAT (p.Asp1096=) c.2468_2469delinsAT (p.Asp823=) n.4019_4020delinsAT | |
| 13 | g.51937579del | CA16041664 | ATP7B | c.*1450del (n.*1450del) c.*2544del (n.*2544del) c.3179del (p.Asp1060ValfsTer?) c.3800del (p.Asp1267ValfsTer?) c.3467del (p.Asp1156ValfsTer?) c.3548del (p.Asp1183ValfsTer?) n.1041del c.3566del (p.Asp1189ValfsTer?) n.3939del n.666del c.2735del (p.Asp912ValfsTer?) c.2510del (p.Asp837ValfsTer?) c.3605del (p.Asp1202ValfsTer?) c.1578del c.*901del (n.*901del) n.4544del n.3145del c.3656del (p.Asp1219ValfsTer?) c.3704del (p.Asp1235ValfsTer?) c.3764del (p.Asp1255ValfsTer?) c.3314del (p.Asp1105ValfsTer?) c.1616del (p.Asp539ValfsTer?) c.1433del (p.Asp478ValfsTer?) c.3665del (p.Asp1222ValfsTer?) c.3617del (p.Asp1206ValfsTer?) c.3386del (p.Asp1129ValfsTer?) c.3287del (p.Asp1096ValfsTer?) c.2468del (p.Asp823ValfsTer?) n.4019del | ClinVar dbSNP |
| 13 | g.51937579T>A | CA388022006 | ATP7B | c.*1450A>T (n.*1450A>T) c.*2544A>T (n.*2544A>T) c.3179A>T (p.Asp1060Val) c.3800A>T (p.Asp1267Val) c.3467A>T (p.Asp1156Val) c.3548A>T (p.Asp1183Val) n.1041A>T c.3566A>T (p.Asp1189Val) n.3939A>T n.666A>T c.2735A>T (p.Asp912Val) c.2510A>T (p.Asp837Val) c.3605A>T (p.Asp1202Val) c.1578A>T c.*901A>T (n.*901A>T) n.4544A>T n.3145A>T c.3656A>T (p.Asp1219Val) c.3704A>T (p.Asp1235Val) c.3764A>T (p.Asp1255Val) c.3314A>T (p.Asp1105Val) c.1616A>T (p.Asp539Val) c.1433A>T (p.Asp478Val) c.3665A>T (p.Asp1222Val) c.3617A>T (p.Asp1206Val) c.3386A>T (p.Asp1129Val) c.3287A>T (p.Asp1096Val) c.2468A>T (p.Asp823Val) n.4019A>T | dbSNP gnomAD v4 |
| 13 | g.51937579T>C | CA388022009 | ATP7B | c.*1450A>G (n.*1450A>G) c.*2544A>G (n.*2544A>G) c.3179A>G (p.Asp1060Gly) c.3800A>G (p.Asp1267Gly) c.3467A>G (p.Asp1156Gly) c.3548A>G (p.Asp1183Gly) n.1041A>G c.3566A>G (p.Asp1189Gly) n.3939A>G n.666A>G c.2735A>G (p.Asp912Gly) c.2510A>G (p.Asp837Gly) c.3605A>G (p.Asp1202Gly) c.1578A>G c.*901A>G (n.*901A>G) n.4544A>G n.3145A>G c.3656A>G (p.Asp1219Gly) c.3704A>G (p.Asp1235Gly) c.3764A>G (p.Asp1255Gly) c.3314A>G (p.Asp1105Gly) c.1616A>G (p.Asp539Gly) c.1433A>G (p.Asp478Gly) c.3665A>G (p.Asp1222Gly) c.3617A>G (p.Asp1206Gly) c.3386A>G (p.Asp1129Gly) c.3287A>G (p.Asp1096Gly) c.2468A>G (p.Asp823Gly) n.4019A>G | |
| 13 | g.51937579T>G | CA388022010 | ATP7B | c.*1450A>C (n.*1450A>C) c.*2544A>C (n.*2544A>C) c.3179A>C (p.Asp1060Ala) c.3800A>C (p.Asp1267Ala) c.3467A>C (p.Asp1156Ala) c.3548A>C (p.Asp1183Ala) n.1041A>C c.3566A>C (p.Asp1189Ala) n.3939A>C n.666A>C c.2735A>C (p.Asp912Ala) c.2510A>C (p.Asp837Ala) c.3605A>C (p.Asp1202Ala) c.1578A>C c.*901A>C (n.*901A>C) n.4544A>C n.3145A>C c.3656A>C (p.Asp1219Ala) c.3704A>C (p.Asp1235Ala) c.3764A>C (p.Asp1255Ala) c.3314A>C (p.Asp1105Ala) c.1616A>C (p.Asp539Ala) c.1433A>C (p.Asp478Ala) c.3665A>C (p.Asp1222Ala) c.3617A>C (p.Asp1206Ala) c.3386A>C (p.Asp1129Ala) c.3287A>C (p.Asp1096Ala) c.2468A>C (p.Asp823Ala) n.4019A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.51937579T= | CA2091554051 | ATP7B | c.*1450A= (n.*1450A=) c.*2544A= (n.*2544A=) c.3179A= (p.Asp1060=) c.3800A= (p.Asp1267=) c.3467A= (p.Asp1156=) c.3548A= (p.Asp1183=) n.1041A= c.3566A= (p.Asp1189=) n.3939A= n.666A= c.2735A= (p.Asp912=) c.2510A= (p.Asp837=) c.3605A= (p.Asp1202=) c.1578A= c.*901A= (n.*901A=) n.4544A= n.3145A= c.3656A= (p.Asp1219=) c.3704A= (p.Asp1235=) c.3764A= (p.Asp1255=) c.3314A= (p.Asp1105=) c.1616A= (p.Asp539=) c.1433A= (p.Asp478=) c.3665A= (p.Asp1222=) c.3617A= (p.Asp1206=) c.3386A= (p.Asp1129=) c.3287A= (p.Asp1096=) c.2468A= (p.Asp823=) n.4019A= | |
| 13 | g.51937580C>A | CA388022012 | ATP7B | c.*1449G>T (n.*1449G>T) c.*2543G>T (n.*2543G>T) c.3178G>T (p.Asp1060Tyr) c.3799G>T (p.Asp1267Tyr) c.3466G>T (p.Asp1156Tyr) c.3547G>T (p.Asp1183Tyr) n.1040G>T c.3565G>T (p.Asp1189Tyr) n.3938G>T n.665G>T c.2734G>T (p.Asp912Tyr) c.2509G>T (p.Asp837Tyr) c.3604G>T (p.Asp1202Tyr) c.1577G>T c.*900G>T (n.*900G>T) n.4543G>T n.3144G>T c.3655G>T (p.Asp1219Tyr) c.3703G>T (p.Asp1235Tyr) c.3763G>T (p.Asp1255Tyr) c.3313G>T (p.Asp1105Tyr) c.1615G>T (p.Asp539Tyr) c.1432G>T (p.Asp478Tyr) c.3664G>T (p.Asp1222Tyr) c.3616G>T (p.Asp1206Tyr) c.3385G>T (p.Asp1129Tyr) c.3286G>T (p.Asp1096Tyr) c.2467G>T (p.Asp823Tyr) n.4018G>T | |
| 13 | g.51937580C>G | CA388022014 | ATP7B | c.*1449G>C (n.*1449G>C) c.*2543G>C (n.*2543G>C) c.3178G>C (p.Asp1060His) c.3799G>C (p.Asp1267His) c.3466G>C (p.Asp1156His) c.3547G>C (p.Asp1183His) n.1040G>C c.3565G>C (p.Asp1189His) n.3938G>C n.665G>C c.2734G>C (p.Asp912His) c.2509G>C (p.Asp837His) c.3604G>C (p.Asp1202His) c.1577G>C c.*900G>C (n.*900G>C) n.4543G>C n.3144G>C c.3655G>C (p.Asp1219His) c.3703G>C (p.Asp1235His) c.3763G>C (p.Asp1255His) c.3313G>C (p.Asp1105His) c.1615G>C (p.Asp539His) c.1432G>C (p.Asp478His) c.3664G>C (p.Asp1222His) c.3616G>C (p.Asp1206His) c.3385G>C (p.Asp1129His) c.3286G>C (p.Asp1096His) c.2467G>C (p.Asp823His) n.4018G>C | |
| 13 | g.51937580C>T | CA388022015 | ATP7B | c.*1449G>A (n.*1449G>A) c.*2543G>A (n.*2543G>A) c.3178G>A (p.Asp1060Asn) c.3799G>A (p.Asp1267Asn) c.3466G>A (p.Asp1156Asn) c.3547G>A (p.Asp1183Asn) n.1040G>A c.3565G>A (p.Asp1189Asn) n.3938G>A n.665G>A c.2734G>A (p.Asp912Asn) c.2509G>A (p.Asp837Asn) c.3604G>A (p.Asp1202Asn) c.1577G>A c.*900G>A (n.*900G>A) n.4543G>A n.3144G>A c.3655G>A (p.Asp1219Asn) c.3703G>A (p.Asp1235Asn) c.3763G>A (p.Asp1255Asn) c.3313G>A (p.Asp1105Asn) c.1615G>A (p.Asp539Asn) c.1432G>A (p.Asp478Asn) c.3664G>A (p.Asp1222Asn) c.3616G>A (p.Asp1206Asn) c.3385G>A (p.Asp1129Asn) c.3286G>A (p.Asp1096Asn) c.2467G>A (p.Asp823Asn) n.4018G>A | gnomAD v4 COSMIC |
| 13 | g.51937581C>A | CA484024340 | ATP7B | c.*1448G>T (n.*1448G>T) c.*2542G>T (n.*2542G>T) c.3177G>T (p.Gly1059=) c.3798G>T (p.Gly1266=) c.3465G>T (p.Gly1155=) c.3546G>T (p.Gly1182=) n.1039G>T c.3564G>T (p.Gly1188=) n.3937G>T n.664G>T c.2733G>T (p.Gly911=) c.2508G>T (p.Gly836=) c.3603G>T (p.Gly1201=) c.1576G>T c.*899G>T (n.*899G>T) n.4542G>T n.3143G>T c.3654G>T (p.Gly1218=) c.3702G>T (p.Gly1234=) c.3762G>T (p.Gly1254=) c.3312G>T (p.Gly1104=) c.1614G>T (p.Gly538=) c.1431G>T (p.Gly477=) c.3663G>T (p.Gly1221=) c.3615G>T (p.Gly1205=) c.3384G>T (p.Gly1128=) c.3285G>T (p.Gly1095=) c.2466G>T (p.Gly822=) n.4017G>T | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.51937581C= | CA2091554057 | ATP7B | c.*1448G= (n.*1448G=) c.*2542G= (n.*2542G=) c.3177G= (p.Gly1059=) c.3798G= (p.Gly1266=) c.3465G= (p.Gly1155=) c.3546G= (p.Gly1182=) n.1039G= c.3564G= (p.Gly1188=) n.3937G= n.664G= c.2733G= (p.Gly911=) c.2508G= (p.Gly836=) c.3603G= (p.Gly1201=) c.1576G= c.*899G= (n.*899G=) n.4542G= n.3143G= c.3654G= (p.Gly1218=) c.3702G= (p.Gly1234=) c.3762G= (p.Gly1254=) c.3312G= (p.Gly1104=) c.1614G= (p.Gly538=) c.1431G= (p.Gly477=) c.3663G= (p.Gly1221=) c.3615G= (p.Gly1205=) c.3384G= (p.Gly1128=) c.3285G= (p.Gly1095=) c.2466G= (p.Gly822=) n.4017G= | |
| 13 | g.51937581C>G | CA484024341 | ATP7B | c.*1448G>C (n.*1448G>C) c.*2542G>C (n.*2542G>C) c.3177G>C (p.Gly1059=) c.3798G>C (p.Gly1266=) c.3465G>C (p.Gly1155=) c.3546G>C (p.Gly1182=) n.1039G>C c.3564G>C (p.Gly1188=) n.3937G>C n.664G>C c.2733G>C (p.Gly911=) c.2508G>C (p.Gly836=) c.3603G>C (p.Gly1201=) c.1576G>C c.*899G>C (n.*899G>C) n.4542G>C n.3143G>C c.3654G>C (p.Gly1218=) c.3702G>C (p.Gly1234=) c.3762G>C (p.Gly1254=) c.3312G>C (p.Gly1104=) c.1614G>C (p.Gly538=) c.1431G>C (p.Gly477=) c.3663G>C (p.Gly1221=) c.3615G>C (p.Gly1205=) c.3384G>C (p.Gly1128=) c.3285G>C (p.Gly1095=) c.2466G>C (p.Gly822=) n.4017G>C | |
| 13 | g.51937581C>T | CA250073695 | ATP7B | c.*1448G>A (n.*1448G>A) c.*2542G>A (n.*2542G>A) c.3177G>A (p.Gly1059=) c.3798G>A (p.Gly1266=) c.3465G>A (p.Gly1155=) c.3546G>A (p.Gly1182=) n.1039G>A c.3564G>A (p.Gly1188=) n.3937G>A n.664G>A c.2733G>A (p.Gly911=) c.2508G>A (p.Gly836=) c.3603G>A (p.Gly1201=) c.1576G>A c.*899G>A (n.*899G>A) n.4542G>A n.3143G>A c.3654G>A (p.Gly1218=) c.3702G>A (p.Gly1234=) c.3762G>A (p.Gly1254=) c.3312G>A (p.Gly1104=) c.1614G>A (p.Gly538=) c.1431G>A (p.Gly477=) c.3663G>A (p.Gly1221=) c.3615G>A (p.Gly1205=) c.3384G>A (p.Gly1128=) c.3285G>A (p.Gly1095=) c.2466G>A (p.Gly822=) n.4017G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.51937582C>A | CA388022019 | ATP7B | c.*1447G>T (n.*1447G>T) c.*2541G>T (n.*2541G>T) c.3176G>T (p.Gly1059Val) c.3797G>T (p.Gly1266Val) c.3464G>T (p.Gly1155Val) c.3545G>T (p.Gly1182Val) n.1038G>T c.3563G>T (p.Gly1188Val) n.3936G>T n.663G>T c.2732G>T (p.Gly911Val) c.2507G>T (p.Gly836Val) c.3602G>T (p.Gly1201Val) c.1575G>T c.*898G>T (n.*898G>T) n.4541G>T n.3142G>T c.3653G>T (p.Gly1218Val) c.3701G>T (p.Gly1234Val) c.3761G>T (p.Gly1254Val) c.3311G>T (p.Gly1104Val) c.1613G>T (p.Gly538Val) c.1430G>T (p.Gly477Val) c.3662G>T (p.Gly1221Val) c.3614G>T (p.Gly1205Val) c.3383G>T (p.Gly1128Val) c.3284G>T (p.Gly1095Val) c.2465G>T (p.Gly822Val) n.4016G>T | |
| 13 | g.51937582C= | CA2091554066 | ATP7B | c.*1447G= (n.*1447G=) c.*2541G= (n.*2541G=) c.3176G= (p.Gly1059=) c.3797G= (p.Gly1266=) c.3464G= (p.Gly1155=) c.3545G= (p.Gly1182=) n.1038G= c.3563G= (p.Gly1188=) n.3936G= n.663G= c.2732G= (p.Gly911=) c.2507G= (p.Gly836=) c.3602G= (p.Gly1201=) c.1575G= c.*898G= (n.*898G=) n.4541G= n.3142G= c.3653G= (p.Gly1218=) c.3701G= (p.Gly1234=) c.3761G= (p.Gly1254=) c.3311G= (p.Gly1104=) c.1613G= (p.Gly538=) c.1430G= (p.Gly477=) c.3662G= (p.Gly1221=) c.3614G= (p.Gly1205=) c.3383G= (p.Gly1128=) c.3284G= (p.Gly1095=) c.2465G= (p.Gly822=) n.4016G= | |
| 13 | g.51937582C>G | CA388022022 | ATP7B | c.*1447G>C (n.*1447G>C) c.*2541G>C (n.*2541G>C) c.3176G>C (p.Gly1059Ala) c.3797G>C (p.Gly1266Ala) c.3464G>C (p.Gly1155Ala) c.3545G>C (p.Gly1182Ala) n.1038G>C c.3563G>C (p.Gly1188Ala) n.3936G>C n.663G>C c.2732G>C (p.Gly911Ala) c.2507G>C (p.Gly836Ala) c.3602G>C (p.Gly1201Ala) c.1575G>C c.*898G>C (n.*898G>C) n.4541G>C n.3142G>C c.3653G>C (p.Gly1218Ala) c.3701G>C (p.Gly1234Ala) c.3761G>C (p.Gly1254Ala) c.3311G>C (p.Gly1104Ala) c.1613G>C (p.Gly538Ala) c.1430G>C (p.Gly477Ala) c.3662G>C (p.Gly1221Ala) c.3614G>C (p.Gly1205Ala) c.3383G>C (p.Gly1128Ala) c.3284G>C (p.Gly1095Ala) c.2465G>C (p.Gly822Ala) n.4016G>C | |
| 13 | g.51937582C>T | CA388022024 | ATP7B | c.*1447G>A (n.*1447G>A) c.*2541G>A (n.*2541G>A) c.3176G>A (p.Gly1059Glu) c.3797G>A (p.Gly1266Glu) c.3464G>A (p.Gly1155Glu) c.3545G>A (p.Gly1182Glu) n.1038G>A c.3563G>A (p.Gly1188Glu) n.3936G>A n.663G>A c.2732G>A (p.Gly911Glu) c.2507G>A (p.Gly836Glu) c.3602G>A (p.Gly1201Glu) c.1575G>A c.*898G>A (n.*898G>A) n.4541G>A n.3142G>A c.3653G>A (p.Gly1218Glu) c.3701G>A (p.Gly1234Glu) c.3761G>A (p.Gly1254Glu) c.3311G>A (p.Gly1104Glu) c.1613G>A (p.Gly538Glu) c.1430G>A (p.Gly477Glu) c.3662G>A (p.Gly1221Glu) c.3614G>A (p.Gly1205Glu) c.3383G>A (p.Gly1128Glu) c.3284G>A (p.Gly1095Glu) c.2465G>A (p.Gly822Glu) n.4016G>A | ClinVar dbSNP COSMIC |
| 13 | g.51937584_51937587dup | CA2695218759 | ATP7B | c.*1444_*1447dup (n.*1444_*1447dup) c.*2538_*2541dup (n.*2538_*2541dup) c.3173_3176dup (p.Asp1060GlyfsTer6) c.3794_3797dup (p.Asp1267GlyfsTer6) c.3461_3464dup (p.Asp1156GlyfsTer6) c.3542_3545dup (p.Asp1183GlyfsTer6) n.1035_1038dup c.3560_3563dup (p.Asp1189GlyfsTer6) n.3933_3936dup n.660_663dup c.2729_2732dup (p.Asp912GlyfsTer6) c.2504_2507dup (p.Asp837GlyfsTer6) c.3599_3602dup (p.Asp1202GlyfsTer6) c.1572_1575dup c.*895_*898dup (n.*895_*898dup) n.4538_4541dup n.3139_3142dup c.3650_3653dup (p.Asp1219GlyfsTer6) c.3698_3701dup (p.Asp1235GlyfsTer6) c.3758_3761dup (p.Asp1255GlyfsTer6) c.3308_3311dup (p.Asp1105GlyfsTer6) c.1610_1613dup (p.Asp539GlyfsTer6) c.1427_1430dup (p.Asp478GlyfsTer6) c.3659_3662dup (p.Asp1222GlyfsTer6) c.3611_3614dup (p.Asp1206GlyfsTer6) c.3380_3383dup (p.Asp1129GlyfsTer6) c.3281_3284dup (p.Asp1096GlyfsTer6) c.2462_2465dup (p.Asp823GlyfsTer6) n.4013_4016dup | |
| 13 | g.51937583C>A | CA388022026 | ATP7B | c.*1446G>T (n.*1446G>T) c.*2540G>T (n.*2540G>T) c.3175G>T (p.Gly1059Trp) c.3796G>T (p.Gly1266Trp) c.3463G>T (p.Gly1155Trp) c.3544G>T (p.Gly1182Trp) n.1037G>T c.3562G>T (p.Gly1188Trp) n.3935G>T n.662G>T c.2731G>T (p.Gly911Trp) c.2506G>T (p.Gly836Trp) c.3601G>T (p.Gly1201Trp) c.1574G>T c.*897G>T (n.*897G>T) n.4540G>T n.3141G>T c.3652G>T (p.Gly1218Trp) c.3700G>T (p.Gly1234Trp) c.3760G>T (p.Gly1254Trp) c.3310G>T (p.Gly1104Trp) c.1612G>T (p.Gly538Trp) c.1429G>T (p.Gly477Trp) c.3661G>T (p.Gly1221Trp) c.3613G>T (p.Gly1205Trp) c.3382G>T (p.Gly1128Trp) c.3283G>T (p.Gly1095Trp) c.2464G>T (p.Gly822Trp) n.4015G>T | dbSNP |
| 13 | g.51937583C= | CA2091554101 | ATP7B | c.*1446G= (n.*1446G=) c.*2540G= (n.*2540G=) c.3175G= (p.Gly1059=) c.3796G= (p.Gly1266=) c.3463G= (p.Gly1155=) c.3544G= (p.Gly1182=) n.1037G= c.3562G= (p.Gly1188=) n.3935G= n.662G= c.2731G= (p.Gly911=) c.2506G= (p.Gly836=) c.3601G= (p.Gly1201=) c.1574G= c.*897G= (n.*897G=) n.4540G= n.3141G= c.3652G= (p.Gly1218=) c.3700G= (p.Gly1234=) c.3760G= (p.Gly1254=) c.3310G= (p.Gly1104=) c.1612G= (p.Gly538=) c.1429G= (p.Gly477=) c.3661G= (p.Gly1221=) c.3613G= (p.Gly1205=) c.3382G= (p.Gly1128=) c.3283G= (p.Gly1095=) c.2464G= (p.Gly822=) n.4015G= | |
| 13 | g.51937583C>G | CA388022028 | ATP7B | c.*1446G>C (n.*1446G>C) c.*2540G>C (n.*2540G>C) c.3175G>C (p.Gly1059Arg) c.3796G>C (p.Gly1266Arg) c.3463G>C (p.Gly1155Arg) c.3544G>C (p.Gly1182Arg) n.1037G>C c.3562G>C (p.Gly1188Arg) n.3935G>C n.662G>C c.2731G>C (p.Gly911Arg) c.2506G>C (p.Gly836Arg) c.3601G>C (p.Gly1201Arg) c.1574G>C c.*897G>C (n.*897G>C) n.4540G>C n.3141G>C c.3652G>C (p.Gly1218Arg) c.3700G>C (p.Gly1234Arg) c.3760G>C (p.Gly1254Arg) c.3310G>C (p.Gly1104Arg) c.1612G>C (p.Gly538Arg) c.1429G>C (p.Gly477Arg) c.3661G>C (p.Gly1221Arg) c.3613G>C (p.Gly1205Arg) c.3382G>C (p.Gly1128Arg) c.3283G>C (p.Gly1095Arg) c.2464G>C (p.Gly822Arg) n.4015G>C | |
| 13 | g.51937583C>T | CA252890 | ATP7B | c.*1446G>A (n.*1446G>A) c.*2540G>A (n.*2540G>A) c.3175G>A (p.Gly1059Arg) c.3796G>A (p.Gly1266Arg) c.3463G>A (p.Gly1155Arg) c.3544G>A (p.Gly1182Arg) n.1037G>A c.3562G>A (p.Gly1188Arg) n.3935G>A n.662G>A c.2731G>A (p.Gly911Arg) c.2506G>A (p.Gly836Arg) c.3601G>A (p.Gly1201Arg) c.1574G>A c.*897G>A (n.*897G>A) n.4540G>A n.3141G>A c.3652G>A (p.Gly1218Arg) c.3700G>A (p.Gly1234Arg) c.3760G>A (p.Gly1254Arg) c.3310G>A (p.Gly1104Arg) c.1612G>A (p.Gly538Arg) c.1429G>A (p.Gly477Arg) c.3661G>A (p.Gly1221Arg) c.3613G>A (p.Gly1205Arg) c.3382G>A (p.Gly1128Arg) c.3283G>A (p.Gly1095Arg) c.2464G>A (p.Gly822Arg) n.4015G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51937584C>A | CA484024342 | ATP7B | c.*1445G>T (n.*1445G>T) c.*2539G>T (n.*2539G>T) c.3174G>T (p.Val1058=) c.3795G>T (p.Val1265=) c.3462G>T (p.Val1154=) c.3543G>T (p.Val1181=) n.1036G>T c.3561G>T (p.Val1187=) n.3934G>T n.661G>T c.2730G>T (p.Val910=) c.2505G>T (p.Val835=) c.3600G>T (p.Val1200=) c.1573G>T c.*896G>T (n.*896G>T) n.4539G>T n.3140G>T c.3651G>T (p.Val1217=) c.3699G>T (p.Val1233=) c.3759G>T (p.Val1253=) c.3309G>T (p.Val1103=) c.1611G>T (p.Val537=) c.1428G>T (p.Val476=) c.3660G>T (p.Val1220=) c.3612G>T (p.Val1204=) c.3381G>T (p.Val1127=) c.3282G>T (p.Val1094=) c.2463G>T (p.Val821=) n.4014G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.51937584C= | CA2091554105 | ATP7B | c.*1445G= (n.*1445G=) c.*2539G= (n.*2539G=) c.3174G= (p.Val1058=) c.3795G= (p.Val1265=) c.3462G= (p.Val1154=) c.3543G= (p.Val1181=) n.1036G= c.3561G= (p.Val1187=) n.3934G= n.661G= c.2730G= (p.Val910=) c.2505G= (p.Val835=) c.3600G= (p.Val1200=) c.1573G= c.*896G= (n.*896G=) n.4539G= n.3140G= c.3651G= (p.Val1217=) c.3699G= (p.Val1233=) c.3759G= (p.Val1253=) c.3309G= (p.Val1103=) c.1611G= (p.Val537=) c.1428G= (p.Val476=) c.3660G= (p.Val1220=) c.3612G= (p.Val1204=) c.3381G= (p.Val1127=) c.3282G= (p.Val1094=) c.2463G= (p.Val821=) n.4014G= | |
| 13 | g.51937584C>G | CA484024343 | ATP7B | c.*1445G>C (n.*1445G>C) c.*2539G>C (n.*2539G>C) c.3174G>C (p.Val1058=) c.3795G>C (p.Val1265=) c.3462G>C (p.Val1154=) c.3543G>C (p.Val1181=) n.1036G>C c.3561G>C (p.Val1187=) n.3934G>C n.661G>C c.2730G>C (p.Val910=) c.2505G>C (p.Val835=) c.3600G>C (p.Val1200=) c.1573G>C c.*896G>C (n.*896G>C) n.4539G>C n.3140G>C c.3651G>C (p.Val1217=) c.3699G>C (p.Val1233=) c.3759G>C (p.Val1253=) c.3309G>C (p.Val1103=) c.1611G>C (p.Val537=) c.1428G>C (p.Val476=) c.3660G>C (p.Val1220=) c.3612G>C (p.Val1204=) c.3381G>C (p.Val1127=) c.3282G>C (p.Val1094=) c.2463G>C (p.Val821=) n.4014G>C | |
| 13 | g.51937584C>T | CA484024344 | ATP7B | c.*1445G>A (n.*1445G>A) c.*2539G>A (n.*2539G>A) c.3174G>A (p.Val1058=) c.3795G>A (p.Val1265=) c.3462G>A (p.Val1154=) c.3543G>A (p.Val1181=) n.1036G>A c.3561G>A (p.Val1187=) n.3934G>A n.661G>A c.2730G>A (p.Val910=) c.2505G>A (p.Val835=) c.3600G>A (p.Val1200=) c.1573G>A c.*896G>A (n.*896G>A) n.4539G>A n.3140G>A c.3651G>A (p.Val1217=) c.3699G>A (p.Val1233=) c.3759G>A (p.Val1253=) c.3309G>A (p.Val1103=) c.1611G>A (p.Val537=) c.1428G>A (p.Val476=) c.3660G>A (p.Val1220=) c.3612G>A (p.Val1204=) c.3381G>A (p.Val1127=) c.3282G>A (p.Val1094=) c.2463G>A (p.Val821=) n.4014G>A | dbSNP gnomAD v4 |
| 13 | g.51937585A>C | CA388022033 | ATP7B | c.*1444T>G (n.*1444T>G) c.*2538T>G (n.*2538T>G) c.3173T>G (p.Val1058Gly) c.3794T>G (p.Val1265Gly) c.3461T>G (p.Val1154Gly) c.3542T>G (p.Val1181Gly) n.1035T>G c.3560T>G (p.Val1187Gly) n.3933T>G n.660T>G c.2729T>G (p.Val910Gly) c.2504T>G (p.Val835Gly) c.3599T>G (p.Val1200Gly) c.1572T>G c.*895T>G (n.*895T>G) n.4538T>G n.3139T>G c.3650T>G (p.Val1217Gly) c.3698T>G (p.Val1233Gly) c.3758T>G (p.Val1253Gly) c.3308T>G (p.Val1103Gly) c.1610T>G (p.Val537Gly) c.1427T>G (p.Val476Gly) c.3659T>G (p.Val1220Gly) c.3611T>G (p.Val1204Gly) c.3380T>G (p.Val1127Gly) c.3281T>G (p.Val1094Gly) c.2462T>G (p.Val821Gly) n.4013T>G | |
| 13 | g.51937585A>G | CA388022035 | ATP7B | c.*1444T>C (n.*1444T>C) c.*2538T>C (n.*2538T>C) c.3173T>C (p.Val1058Ala) c.3794T>C (p.Val1265Ala) c.3461T>C (p.Val1154Ala) c.3542T>C (p.Val1181Ala) n.1035T>C c.3560T>C (p.Val1187Ala) n.3933T>C n.660T>C c.2729T>C (p.Val910Ala) c.2504T>C (p.Val835Ala) c.3599T>C (p.Val1200Ala) c.1572T>C c.*895T>C (n.*895T>C) n.4538T>C n.3139T>C c.3650T>C (p.Val1217Ala) c.3698T>C (p.Val1233Ala) c.3758T>C (p.Val1253Ala) c.3308T>C (p.Val1103Ala) c.1610T>C (p.Val537Ala) c.1427T>C (p.Val476Ala) c.3659T>C (p.Val1220Ala) c.3611T>C (p.Val1204Ala) c.3380T>C (p.Val1127Ala) c.3281T>C (p.Val1094Ala) c.2462T>C (p.Val821Ala) n.4013T>C | |
| 13 | g.51937585A>T | CA388022042 | ATP7B | c.*1444T>A (n.*1444T>A) c.*2538T>A (n.*2538T>A) c.3173T>A (p.Val1058Glu) c.3794T>A (p.Val1265Glu) c.3461T>A (p.Val1154Glu) c.3542T>A (p.Val1181Glu) n.1035T>A c.3560T>A (p.Val1187Glu) n.3933T>A n.660T>A c.2729T>A (p.Val910Glu) c.2504T>A (p.Val835Glu) c.3599T>A (p.Val1200Glu) c.1572T>A c.*895T>A (n.*895T>A) n.4538T>A n.3139T>A c.3650T>A (p.Val1217Glu) c.3698T>A (p.Val1233Glu) c.3758T>A (p.Val1253Glu) c.3308T>A (p.Val1103Glu) c.1610T>A (p.Val537Glu) c.1427T>A (p.Val476Glu) c.3659T>A (p.Val1220Glu) c.3611T>A (p.Val1204Glu) c.3380T>A (p.Val1127Glu) c.3281T>A (p.Val1094Glu) c.2462T>A (p.Val821Glu) n.4013T>A | |
| 13 | g.51937586C>A | CA388022049 | ATP7B | c.*1443G>T (n.*1443G>T) c.*2537G>T (n.*2537G>T) c.3172G>T (p.Val1058Leu) c.3793G>T (p.Val1265Leu) c.3460G>T (p.Val1154Leu) c.3541G>T (p.Val1181Leu) n.1034G>T c.3559G>T (p.Val1187Leu) n.3932G>T n.659G>T c.2728G>T (p.Val910Leu) c.2503G>T (p.Val835Leu) c.3598G>T (p.Val1200Leu) c.1571G>T c.*894G>T (n.*894G>T) n.4537G>T n.3138G>T c.3649G>T (p.Val1217Leu) c.3697G>T (p.Val1233Leu) c.3757G>T (p.Val1253Leu) c.3307G>T (p.Val1103Leu) c.1609G>T (p.Val537Leu) c.1426G>T (p.Val476Leu) c.3658G>T (p.Val1220Leu) c.3610G>T (p.Val1204Leu) c.3379G>T (p.Val1127Leu) c.3280G>T (p.Val1094Leu) c.2461G>T (p.Val821Leu) n.4012G>T | dbSNP |
| 13 | g.51937586C= | CA2091554106 | ATP7B | c.*1443G= (n.*1443G=) c.*2537G= (n.*2537G=) c.3172G= (p.Val1058=) c.3793G= (p.Val1265=) c.3460G= (p.Val1154=) c.3541G= (p.Val1181=) n.1034G= c.3559G= (p.Val1187=) n.3932G= n.659G= c.2728G= (p.Val910=) c.2503G= (p.Val835=) c.3598G= (p.Val1200=) c.1571G= c.*894G= (n.*894G=) n.4537G= n.3138G= c.3649G= (p.Val1217=) c.3697G= (p.Val1233=) c.3757G= (p.Val1253=) c.3307G= (p.Val1103=) c.1609G= (p.Val537=) c.1426G= (p.Val476=) c.3658G= (p.Val1220=) c.3610G= (p.Val1204=) c.3379G= (p.Val1127=) c.3280G= (p.Val1094=) c.2461G= (p.Val821=) n.4012G= | |
| 13 | g.51937586C>G | CA388022044 | ATP7B | c.*1443G>C (n.*1443G>C) c.*2537G>C (n.*2537G>C) c.3172G>C (p.Val1058Leu) c.3793G>C (p.Val1265Leu) c.3460G>C (p.Val1154Leu) c.3541G>C (p.Val1181Leu) n.1034G>C c.3559G>C (p.Val1187Leu) n.3932G>C n.659G>C c.2728G>C (p.Val910Leu) c.2503G>C (p.Val835Leu) c.3598G>C (p.Val1200Leu) c.1571G>C c.*894G>C (n.*894G>C) n.4537G>C n.3138G>C c.3649G>C (p.Val1217Leu) c.3697G>C (p.Val1233Leu) c.3757G>C (p.Val1253Leu) c.3307G>C (p.Val1103Leu) c.1609G>C (p.Val537Leu) c.1426G>C (p.Val476Leu) c.3658G>C (p.Val1220Leu) c.3610G>C (p.Val1204Leu) c.3379G>C (p.Val1127Leu) c.3280G>C (p.Val1094Leu) c.2461G>C (p.Val821Leu) n.4012G>C | |
| 13 | g.51937586C>T | CA388022048 | ATP7B | c.*1443G>A (n.*1443G>A) c.*2537G>A (n.*2537G>A) c.3172G>A (p.Val1058Met) c.3793G>A (p.Val1265Met) c.3460G>A (p.Val1154Met) c.3541G>A (p.Val1181Met) n.1034G>A c.3559G>A (p.Val1187Met) n.3932G>A n.659G>A c.2728G>A (p.Val910Met) c.2503G>A (p.Val835Met) c.3598G>A (p.Val1200Met) c.1571G>A c.*894G>A (n.*894G>A) n.4537G>A n.3138G>A c.3649G>A (p.Val1217Met) c.3697G>A (p.Val1233Met) c.3757G>A (p.Val1253Met) c.3307G>A (p.Val1103Met) c.1609G>A (p.Val537Met) c.1426G>A (p.Val476Met) c.3658G>A (p.Val1220Met) c.3610G>A (p.Val1204Met) c.3379G>A (p.Val1127Met) c.3280G>A (p.Val1094Met) c.2461G>A (p.Val821Met) n.4012G>A | |
| 13 | g.51937587C>A | CA388022050 | ATP7B | c.*1442G>T (n.*1442G>T) c.*2536G>T (n.*2536G>T) c.3171G>T (p.Met1057Ile) c.3792G>T (p.Met1264Ile) c.3459G>T (p.Met1153Ile) c.3540G>T (p.Met1180Ile) n.1033G>T c.3558G>T (p.Met1186Ile) n.3931G>T n.658G>T c.2727G>T (p.Met909Ile) c.2502G>T (p.Met834Ile) c.3597G>T (p.Met1199Ile) c.1570G>T c.*893G>T (n.*893G>T) n.4536G>T n.3137G>T c.3648G>T (p.Met1216Ile) c.3696G>T (p.Met1232Ile) c.3756G>T (p.Met1252Ile) c.3306G>T (p.Met1102Ile) c.1608G>T (p.Met536Ile) c.1425G>T (p.Met475Ile) c.3657G>T (p.Met1219Ile) c.3609G>T (p.Met1203Ile) c.3378G>T (p.Met1126Ile) c.3279G>T (p.Met1093Ile) c.2460G>T (p.Met820Ile) n.4011G>T | |
| 13 | g.51937587C>G | CA388022053 | ATP7B | c.*1442G>C (n.*1442G>C) c.*2536G>C (n.*2536G>C) c.3171G>C (p.Met1057Ile) c.3792G>C (p.Met1264Ile) c.3459G>C (p.Met1153Ile) c.3540G>C (p.Met1180Ile) n.1033G>C c.3558G>C (p.Met1186Ile) n.3931G>C n.658G>C c.2727G>C (p.Met909Ile) c.2502G>C (p.Met834Ile) c.3597G>C (p.Met1199Ile) c.1570G>C c.*893G>C (n.*893G>C) n.4536G>C n.3137G>C c.3648G>C (p.Met1216Ile) c.3696G>C (p.Met1232Ile) c.3756G>C (p.Met1252Ile) c.3306G>C (p.Met1102Ile) c.1608G>C (p.Met536Ile) c.1425G>C (p.Met475Ile) c.3657G>C (p.Met1219Ile) c.3609G>C (p.Met1203Ile) c.3378G>C (p.Met1126Ile) c.3279G>C (p.Met1093Ile) c.2460G>C (p.Met820Ile) n.4011G>C | |
| 13 | g.51937587C>T | CA388022054 | ATP7B | c.*1442G>A (n.*1442G>A) c.*2536G>A (n.*2536G>A) c.3171G>A (p.Met1057Ile) c.3792G>A (p.Met1264Ile) c.3459G>A (p.Met1153Ile) c.3540G>A (p.Met1180Ile) n.1033G>A c.3558G>A (p.Met1186Ile) n.3931G>A n.658G>A c.2727G>A (p.Met909Ile) c.2502G>A (p.Met834Ile) c.3597G>A (p.Met1199Ile) c.1570G>A c.*893G>A (n.*893G>A) n.4536G>A n.3137G>A c.3648G>A (p.Met1216Ile) c.3696G>A (p.Met1232Ile) c.3756G>A (p.Met1252Ile) c.3306G>A (p.Met1102Ile) c.1608G>A (p.Met536Ile) c.1425G>A (p.Met475Ile) c.3657G>A (p.Met1219Ile) c.3609G>A (p.Met1203Ile) c.3378G>A (p.Met1126Ile) c.3279G>A (p.Met1093Ile) c.2460G>A (p.Met820Ile) n.4011G>A | |
| 13 | g.51937588A>C | CA388022056 | ATP7B | c.*1441T>G (n.*1441T>G) c.*2535T>G (n.*2535T>G) c.3170T>G (p.Met1057Arg) c.3791T>G (p.Met1264Arg) c.3458T>G (p.Met1153Arg) c.3539T>G (p.Met1180Arg) n.1032T>G c.3557T>G (p.Met1186Arg) n.3930T>G n.657T>G c.2726T>G (p.Met909Arg) c.2501T>G (p.Met834Arg) c.3596T>G (p.Met1199Arg) c.1569T>G c.*892T>G (n.*892T>G) n.4535T>G n.3136T>G c.3647T>G (p.Met1216Arg) c.3695T>G (p.Met1232Arg) c.3755T>G (p.Met1252Arg) c.3305T>G (p.Met1102Arg) c.1607T>G (p.Met536Arg) c.1424T>G (p.Met475Arg) c.3656T>G (p.Met1219Arg) c.3608T>G (p.Met1203Arg) c.3377T>G (p.Met1126Arg) c.3278T>G (p.Met1093Arg) c.2459T>G (p.Met820Arg) n.4010T>G | |
| 13 | g.51937588A>G | CA388022057 | ATP7B | c.*1441T>C (n.*1441T>C) c.*2535T>C (n.*2535T>C) c.3170T>C (p.Met1057Thr) c.3791T>C (p.Met1264Thr) c.3458T>C (p.Met1153Thr) c.3539T>C (p.Met1180Thr) n.1032T>C c.3557T>C (p.Met1186Thr) n.3930T>C n.657T>C c.2726T>C (p.Met909Thr) c.2501T>C (p.Met834Thr) c.3596T>C (p.Met1199Thr) c.1569T>C c.*892T>C (n.*892T>C) n.4535T>C n.3136T>C c.3647T>C (p.Met1216Thr) c.3695T>C (p.Met1232Thr) c.3755T>C (p.Met1252Thr) c.3305T>C (p.Met1102Thr) c.1607T>C (p.Met536Thr) c.1424T>C (p.Met475Thr) c.3656T>C (p.Met1219Thr) c.3608T>C (p.Met1203Thr) c.3377T>C (p.Met1126Thr) c.3278T>C (p.Met1093Thr) c.2459T>C (p.Met820Thr) n.4010T>C | |
| 13 | g.51937588A>T | CA388022059 | ATP7B | c.*1441T>A (n.*1441T>A) c.*2535T>A (n.*2535T>A) c.3170T>A (p.Met1057Lys) c.3791T>A (p.Met1264Lys) c.3458T>A (p.Met1153Lys) c.3539T>A (p.Met1180Lys) n.1032T>A c.3557T>A (p.Met1186Lys) n.3930T>A n.657T>A c.2726T>A (p.Met909Lys) c.2501T>A (p.Met834Lys) c.3596T>A (p.Met1199Lys) c.1569T>A c.*892T>A (n.*892T>A) n.4535T>A n.3136T>A c.3647T>A (p.Met1216Lys) c.3695T>A (p.Met1232Lys) c.3755T>A (p.Met1252Lys) c.3305T>A (p.Met1102Lys) c.1607T>A (p.Met536Lys) c.1424T>A (p.Met475Lys) c.3656T>A (p.Met1219Lys) c.3608T>A (p.Met1203Lys) c.3377T>A (p.Met1126Lys) c.3278T>A (p.Met1093Lys) c.2459T>A (p.Met820Lys) n.4010T>A | |
| 13 | g.51937588_51937597del | CA2580087712 | ATP7B | c.*1432_*1441del (n.*1432_*1441del) c.*2526_*2535del (n.*2526_*2535del) c.3161_3170del (p.Lys1054ArgfsTer?) c.3782_3791del (p.Lys1261ArgfsTer?) c.3449_3458del (p.Lys1150ArgfsTer?) c.3530_3539del (p.Lys1177ArgfsTer?) n.1023_1032del c.3548_3557del (p.Lys1183ArgfsTer?) n.3921_3930del n.648_657del c.2717_2726del (p.Lys906ArgfsTer?) c.2492_2501del (p.Lys831ArgfsTer?) c.3587_3596del (p.Lys1196ArgfsTer?) c.1560_1569del c.*883_*892del (n.*883_*892del) n.4526_4535del n.3127_3136del c.3638_3647del (p.Lys1213ArgfsTer?) c.3686_3695del (p.Lys1229ArgfsTer?) c.3746_3755del (p.Lys1249ArgfsTer?) c.3296_3305del (p.Lys1099ArgfsTer?) c.1598_1607del (p.Lys533ArgfsTer?) c.1415_1424del (p.Lys472ArgfsTer?) c.3647_3656del (p.Lys1216ArgfsTer?) c.3599_3608del (p.Lys1200ArgfsTer?) c.3368_3377del (p.Lys1123ArgfsTer?) c.3269_3278del (p.Lys1090ArgfsTer?) c.2450_2459del (p.Lys817ArgfsTer?) n.4001_4010del | ClinVar |
| 13 | g.51937589T>A | CA388022062 | ATP7B | c.*1440A>T (n.*1440A>T) c.*2534A>T (n.*2534A>T) c.3169A>T (p.Met1057Leu) c.3790A>T (p.Met1264Leu) c.3457A>T (p.Met1153Leu) c.3538A>T (p.Met1180Leu) n.1031A>T c.3556A>T (p.Met1186Leu) n.3929A>T n.656A>T c.2725A>T (p.Met909Leu) c.2500A>T (p.Met834Leu) c.3595A>T (p.Met1199Leu) c.1568A>T c.*891A>T (n.*891A>T) n.4534A>T n.3135A>T c.3646A>T (p.Met1216Leu) c.3694A>T (p.Met1232Leu) c.3754A>T (p.Met1252Leu) c.3304A>T (p.Met1102Leu) c.1606A>T (p.Met536Leu) c.1423A>T (p.Met475Leu) c.3655A>T (p.Met1219Leu) c.3607A>T (p.Met1203Leu) c.3376A>T (p.Met1126Leu) c.3277A>T (p.Met1093Leu) c.2458A>T (p.Met820Leu) n.4009A>T | dbSNP |
| 13 | g.51937589T>C | CA388022065 | ATP7B | c.*1440A>G (n.*1440A>G) c.*2534A>G (n.*2534A>G) c.3169A>G (p.Met1057Val) c.3790A>G (p.Met1264Val) c.3457A>G (p.Met1153Val) c.3538A>G (p.Met1180Val) n.1031A>G c.3556A>G (p.Met1186Val) n.3929A>G n.656A>G c.2725A>G (p.Met909Val) c.2500A>G (p.Met834Val) c.3595A>G (p.Met1199Val) c.1568A>G c.*891A>G (n.*891A>G) n.4534A>G n.3135A>G c.3646A>G (p.Met1216Val) c.3694A>G (p.Met1232Val) c.3754A>G (p.Met1252Val) c.3304A>G (p.Met1102Val) c.1606A>G (p.Met536Val) c.1423A>G (p.Met475Val) c.3655A>G (p.Met1219Val) c.3607A>G (p.Met1203Val) c.3376A>G (p.Met1126Val) c.3277A>G (p.Met1093Val) c.2458A>G (p.Met820Val) n.4009A>G | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51937589T>G | CA388022067 | ATP7B | c.*1440A>C (n.*1440A>C) c.*2534A>C (n.*2534A>C) c.3169A>C (p.Met1057Leu) c.3790A>C (p.Met1264Leu) c.3457A>C (p.Met1153Leu) c.3538A>C (p.Met1180Leu) n.1031A>C c.3556A>C (p.Met1186Leu) n.3929A>C n.656A>C c.2725A>C (p.Met909Leu) c.2500A>C (p.Met834Leu) c.3595A>C (p.Met1199Leu) c.1568A>C c.*891A>C (n.*891A>C) n.4534A>C n.3135A>C c.3646A>C (p.Met1216Leu) c.3694A>C (p.Met1232Leu) c.3754A>C (p.Met1252Leu) c.3304A>C (p.Met1102Leu) c.1606A>C (p.Met536Leu) c.1423A>C (p.Met475Leu) c.3655A>C (p.Met1219Leu) c.3607A>C (p.Met1203Leu) c.3376A>C (p.Met1126Leu) c.3277A>C (p.Met1093Leu) c.2458A>C (p.Met820Leu) n.4009A>C | |
| 13 | g.51937589T= | CA2091554110 | ATP7B | c.*1440A= (n.*1440A=) c.*2534A= (n.*2534A=) c.3169A= (p.Met1057=) c.3790A= (p.Met1264=) c.3457A= (p.Met1153=) c.3538A= (p.Met1180=) n.1031A= c.3556A= (p.Met1186=) n.3929A= n.656A= c.2725A= (p.Met909=) c.2500A= (p.Met834=) c.3595A= (p.Met1199=) c.1568A= c.*891A= (n.*891A=) n.4534A= n.3135A= c.3646A= (p.Met1216=) c.3694A= (p.Met1232=) c.3754A= (p.Met1252=) c.3304A= (p.Met1102=) c.1606A= (p.Met536=) c.1423A= (p.Met475=) c.3655A= (p.Met1219=) c.3607A= (p.Met1203=) c.3376A= (p.Met1126=) c.3277A= (p.Met1093=) c.2458A= (p.Met820=) n.4009A= | |
| 13 | g.51937590G>A | CA250073700 | ATP7B | c.*1439C>T (n.*1439C>T) c.*2533C>T (n.*2533C>T) c.3168C>T (p.Ala1056=) c.3789C>T (p.Ala1263=) c.3456C>T (p.Ala1152=) c.3537C>T (p.Ala1179=) n.1030C>T c.3555C>T (p.Ala1185=) n.3928C>T n.655C>T c.2724C>T (p.Ala908=) c.2499C>T (p.Ala833=) c.3594C>T (p.Ala1198=) c.1567C>T c.*890C>T (n.*890C>T) n.4533C>T n.3134C>T c.3645C>T (p.Ala1215=) c.3693C>T (p.Ala1231=) c.3753C>T (p.Ala1251=) c.3303C>T (p.Ala1101=) c.1605C>T (p.Ala535=) c.1422C>T (p.Ala474=) c.3654C>T (p.Ala1218=) c.3606C>T (p.Ala1202=) c.3375C>T (p.Ala1125=) c.3276C>T (p.Ala1092=) c.2457C>T (p.Ala819=) n.4008C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.51937590G>C | CA484024345 | ATP7B | c.*1439C>G (n.*1439C>G) c.*2533C>G (n.*2533C>G) c.3168C>G (p.Ala1056=) c.3789C>G (p.Ala1263=) c.3456C>G (p.Ala1152=) c.3537C>G (p.Ala1179=) n.1030C>G c.3555C>G (p.Ala1185=) n.3928C>G n.655C>G c.2724C>G (p.Ala908=) c.2499C>G (p.Ala833=) c.3594C>G (p.Ala1198=) c.1567C>G c.*890C>G (n.*890C>G) n.4533C>G n.3134C>G c.3645C>G (p.Ala1215=) c.3693C>G (p.Ala1231=) c.3753C>G (p.Ala1251=) c.3303C>G (p.Ala1101=) c.1605C>G (p.Ala535=) c.1422C>G (p.Ala474=) c.3654C>G (p.Ala1218=) c.3606C>G (p.Ala1202=) c.3375C>G (p.Ala1125=) c.3276C>G (p.Ala1092=) c.2457C>G (p.Ala819=) n.4008C>G | |
| 13 | g.51937590G= | CA2091554113 | ATP7B | c.*1439C= (n.*1439C=) c.*2533C= (n.*2533C=) c.3168C= (p.Ala1056=) c.3789C= (p.Ala1263=) c.3456C= (p.Ala1152=) c.3537C= (p.Ala1179=) n.1030C= c.3555C= (p.Ala1185=) n.3928C= n.655C= c.2724C= (p.Ala908=) c.2499C= (p.Ala833=) c.3594C= (p.Ala1198=) c.1567C= c.*890C= (n.*890C=) n.4533C= n.3134C= c.3645C= (p.Ala1215=) c.3693C= (p.Ala1231=) c.3753C= (p.Ala1251=) c.3303C= (p.Ala1101=) c.1605C= (p.Ala535=) c.1422C= (p.Ala474=) c.3654C= (p.Ala1218=) c.3606C= (p.Ala1202=) c.3375C= (p.Ala1125=) c.3276C= (p.Ala1092=) c.2457C= (p.Ala819=) n.4008C= | |
| 13 | g.51937590G>T | CA484024346 | ATP7B | c.*1439C>A (n.*1439C>A) c.*2533C>A (n.*2533C>A) c.3168C>A (p.Ala1056=) c.3789C>A (p.Ala1263=) c.3456C>A (p.Ala1152=) c.3537C>A (p.Ala1179=) n.1030C>A c.3555C>A (p.Ala1185=) n.3928C>A n.655C>A c.2724C>A (p.Ala908=) c.2499C>A (p.Ala833=) c.3594C>A (p.Ala1198=) c.1567C>A c.*890C>A (n.*890C>A) n.4533C>A n.3134C>A c.3645C>A (p.Ala1215=) c.3693C>A (p.Ala1231=) c.3753C>A (p.Ala1251=) c.3303C>A (p.Ala1101=) c.1605C>A (p.Ala535=) c.1422C>A (p.Ala474=) c.3654C>A (p.Ala1218=) c.3606C>A (p.Ala1202=) c.3375C>A (p.Ala1125=) c.3276C>A (p.Ala1092=) c.2457C>A (p.Ala819=) n.4008C>A | |
| 13 | g.51937591G>A | CA388022069 | ATP7B | c.*1438C>T (n.*1438C>T) c.*2532C>T (n.*2532C>T) c.3167C>T (p.Ala1056Val) c.3788C>T (p.Ala1263Val) c.3455C>T (p.Ala1152Val) c.3536C>T (p.Ala1179Val) n.1029C>T c.3554C>T (p.Ala1185Val) n.3927C>T n.654C>T c.2723C>T (p.Ala908Val) c.2498C>T (p.Ala833Val) c.3593C>T (p.Ala1198Val) c.1566C>T c.*889C>T (n.*889C>T) n.4532C>T n.3133C>T c.3644C>T (p.Ala1215Val) c.3692C>T (p.Ala1231Val) c.3752C>T (p.Ala1251Val) c.3302C>T (p.Ala1101Val) c.1604C>T (p.Ala535Val) c.1421C>T (p.Ala474Val) c.3653C>T (p.Ala1218Val) c.3605C>T (p.Ala1202Val) c.3374C>T (p.Ala1125Val) c.3275C>T (p.Ala1092Val) c.2456C>T (p.Ala819Val) n.4007C>T |