Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
13	g.51939052_51939055delinsTGGG	CA2091556574	ATP7B	c.1345_1348delinsCCCA (n.1345_1348delinsCCCA) c.2439_2442delinsCCCA (n.2439_2442delinsCCCA) c.3074_3077delinsCCCA (p.Thr1025=) c.3695_3698delinsCCCA (p.Thr1232=) c.3362_3365delinsCCCA (p.Thr1121=) c.3443_3446delinsCCCA (p.Thr1148=) n.936_939delinsCCCA c.3461_3464delinsCCCA (p.Thr1154=) n.3834_3837delinsCCCA n.561_564delinsCCCA c.2630_2633delinsCCCA (p.Thr877=) c.2405_2408delinsCCCA (p.Thr802=) c.3500_3503delinsCCCA (p.Thr1167=) c.1473_1476delinsCCCA c.796_799delinsCCCA (n.796_799delinsCCCA) n.4439_4442delinsCCCA n.3040_3043delinsCCCA c.3551_3554delinsCCCA (p.Thr1184=) c.3599_3602delinsCCCA (p.Thr1200=) c.3659_3662delinsCCCA (p.Thr1220=) c.3209_3212delinsCCCA (p.Thr1070=) c.1511_1514delinsCCCA (p.Thr504=) c.1328_1331delinsCCCA (p.Thr443=) c.3560_3563delinsCCCA (p.Thr1187=) c.3512_3515delinsCCCA (p.Thr1171=) c.3281_3284delinsCCCA (p.Thr1094=) c.3182_3185delinsCCCA (p.Thr1061=) c.2363_2366delinsCCCA (p.Thr788=) n.3914_3917delinsCCCA
13	g.51939052_51939057delinsTGGGTG	CA2091556577	ATP7B	c.1343_1348delinsCACCCA (n.1343_1348delinsCACCCA) c.2437_2442delinsCACCCA (n.2437_2442delinsCACCCA) c.3072_3077delinsCACCCA (p.Ala1024=) c.3693_3698delinsCACCCA (p.Ala1231=) c.3360_3365delinsCACCCA (p.Ala1120=) c.3441_3446delinsCACCCA (p.Ala1147=) n.934_939delinsCACCCA c.3459_3464delinsCACCCA (p.Ala1153=) n.3832_3837delinsCACCCA n.559_564delinsCACCCA c.2628_2633delinsCACCCA (p.Ala876=) c.2403_2408delinsCACCCA (p.Ala801=) c.3498_3503delinsCACCCA (p.Ala1166=) c.1471_1476delinsCACCCA c.794_799delinsCACCCA (n.794_799delinsCACCCA) n.4437_4442delinsCACCCA n.3038_3043delinsCACCCA c.3549_3554delinsCACCCA (p.Ala1183=) c.3597_3602delinsCACCCA (p.Ala1199=) c.3657_3662delinsCACCCA (p.Ala1219=) c.3207_3212delinsCACCCA (p.Ala1069=) c.1509_1514delinsCACCCA (p.Ala503=) c.1326_1331delinsCACCCA (p.Ala442=) c.3558_3563delinsCACCCA (p.Ala1186=) c.3510_3515delinsCACCCA (p.Ala1170=) c.3279_3284delinsCACCCA (p.Ala1093=) c.3180_3185delinsCACCCA (p.Ala1060=) c.2361_2366delinsCACCCA (p.Ala787=) n.3912_3917delinsCACCCA
13	g.51939053_51939055del	CA1139663300	ATP7B	c.1345_1347del (n.1345_1347del) c.2439_2441del (n.2439_2441del) c.3074_3076del (p.Thr1025_Gln1026delinsLys) c.3695_3697del (p.Thr1232_Gln1233delinsLys) c.3362_3364del (p.Thr1121_Gln1122delinsLys) c.3443_3445del (p.Thr1148_Gln1149delinsLys) n.936_938del c.3461_3463del (p.Thr1154_Gln1155delinsLys) n.3834_3836del n.561_563del c.2630_2632del (p.Thr877_Gln878delinsLys) c.2405_2407del (p.Thr802_Gln803delinsLys) c.3500_3502del (p.Thr1167_Gln1168delinsLys) c.1473_1475del c.796_798del (n.796_798del) n.4439_4441del n.3040_3042del c.3551_3553del (p.Thr1184_Gln1185delinsLys) c.3599_3601del (p.Thr1200_Gln1201delinsLys) c.3659_3661del (p.Thr1220_Gln1221delinsLys) c.3209_3211del (p.Thr1070_Gln1071delinsLys) c.1511_1513del (p.Thr504_Gln505delinsLys) c.1328_1330del (p.Thr443_Gln444delinsLys) c.3560_3562del (p.Thr1187_Gln1188delinsLys) c.3512_3514del (p.Thr1171_Gln1172delinsLys) c.3281_3283del (p.Thr1094_Gln1095delinsLys) c.3182_3184del (p.Thr1061_Gln1062delinsLys) c.2363_2365del (p.Thr788_Gln789delinsLys) n.3914_3916del	ClinVar dbSNP
13	g.51939053_51939057delinsTTAATGTTAATGTACCAGA	CA1139663301	ATP7B	c.1343_1347delinsTCTGGTACATTAACATTAA (n.1343_1347delinsTCTGGTACATTAACATTAA) c.2437_2441delinsTCTGGTACATTAACATTAA (n.2437_2441delinsTCTGGTACATTAACATTAA) c.3072_3076delinsTCTGGTACATTAACATTAA (p.Thr1025LeufsTer4) c.3693_3697delinsTCTGGTACATTAACATTAA (p.Thr1232LeufsTer4) c.3360_3364delinsTCTGGTACATTAACATTAA (p.Thr1121LeufsTer4) c.3441_3445delinsTCTGGTACATTAACATTAA (p.Thr1148LeufsTer4) n.934_938delinsTCTGGTACATTAACATTAA c.3459_3463delinsTCTGGTACATTAACATTAA (p.Thr1154LeufsTer4) n.3832_3836delinsTCTGGTACATTAACATTAA n.559_563delinsTCTGGTACATTAACATTAA c.2628_2632delinsTCTGGTACATTAACATTAA (p.Thr877LeufsTer4) c.2403_2407delinsTCTGGTACATTAACATTAA (p.Thr802LeufsTer4) c.3498_3502delinsTCTGGTACATTAACATTAA (p.Thr1167LeufsTer4) c.1471_1475delinsTCTGGTACATTAACATTAA c.794_798delinsTCTGGTACATTAACATTAA (n.794_798delinsTCTGGTACATTAACATTAA) n.4437_4441delinsTCTGGTACATTAACATTAA n.3038_3042delinsTCTGGTACATTAACATTAA c.3549_3553delinsTCTGGTACATTAACATTAA (p.Thr1184LeufsTer4) c.3597_3601delinsTCTGGTACATTAACATTAA (p.Thr1200LeufsTer4) c.3657_3661delinsTCTGGTACATTAACATTAA (p.Thr1220LeufsTer4) c.3207_3211delinsTCTGGTACATTAACATTAA (p.Thr1070LeufsTer4) c.1509_1513delinsTCTGGTACATTAACATTAA (p.Thr504LeufsTer4) c.1326_1330delinsTCTGGTACATTAACATTAA (p.Thr443LeufsTer4) c.3558_3562delinsTCTGGTACATTAACATTAA (p.Thr1187LeufsTer4) c.3510_3514delinsTCTGGTACATTAACATTAA (p.Thr1171LeufsTer4) c.3279_3283delinsTCTGGTACATTAACATTAA (p.Thr1094LeufsTer4) c.3180_3184delinsTCTGGTACATTAACATTAA (p.Thr1061LeufsTer4) c.2361_2365delinsTCTGGTACATTAACATTAA (p.Thr788LeufsTer4) n.3912_3916delinsTCTGGTACATTAACATTAA	ClinVar dbSNP
13	g.51939054G>A	CA483893569	ATP7B	c.1346C>T (n.1346C>T) c.2440C>T (n.2440C>T) c.3075C>T (p.Thr1025=) c.3696C>T (p.Thr1232=) c.3363C>T (p.Thr1121=) c.3444C>T (p.Thr1148=) n.937C>T c.3462C>T (p.Thr1154=) n.3835C>T n.562C>T c.2631C>T (p.Thr877=) c.2406C>T (p.Thr802=) c.3501C>T (p.Thr1167=) c.1474C>T c.797C>T (n.797C>T) n.4440C>T n.3041C>T c.3552C>T (p.Thr1184=) c.3600C>T (p.Thr1200=) c.3660C>T (p.Thr1220=) c.3210C>T (p.Thr1070=) c.1512C>T (p.Thr504=) c.1329C>T (p.Thr443=) c.3561C>T (p.Thr1187=) c.3513C>T (p.Thr1171=) c.3282C>T (p.Thr1094=) c.3183C>T (p.Thr1061=) c.2364C>T (p.Thr788=) n.3915C>T	ClinVar dbSNP
13	g.51939054G>C	CA483893571	ATP7B	c.1346C>G (n.1346C>G) c.2440C>G (n.2440C>G) c.3075C>G (p.Thr1025=) c.3696C>G (p.Thr1232=) c.3363C>G (p.Thr1121=) c.3444C>G (p.Thr1148=) n.937C>G c.3462C>G (p.Thr1154=) n.3835C>G n.562C>G c.2631C>G (p.Thr877=) c.2406C>G (p.Thr802=) c.3501C>G (p.Thr1167=) c.1474C>G c.797C>G (n.797C>G) n.4440C>G n.3041C>G c.3552C>G (p.Thr1184=) c.3600C>G (p.Thr1200=) c.3660C>G (p.Thr1220=) c.3210C>G (p.Thr1070=) c.1512C>G (p.Thr504=) c.1329C>G (p.Thr443=) c.3561C>G (p.Thr1187=) c.3513C>G (p.Thr1171=) c.3282C>G (p.Thr1094=) c.3183C>G (p.Thr1061=) c.2364C>G (p.Thr788=) n.3915C>G
13	g.51939054G=	CA2091556595	ATP7B	c.1346C= (n.1346C=) c.2440C= (n.2440C=) c.3075C= (p.Thr1025=) c.3696C= (p.Thr1232=) c.3363C= (p.Thr1121=) c.3444C= (p.Thr1148=) n.937C= c.3462C= (p.Thr1154=) n.3835C= n.562C= c.2631C= (p.Thr877=) c.2406C= (p.Thr802=) c.3501C= (p.Thr1167=) c.1474C= c.797C= (n.797C=) n.4440C= n.3041C= c.3552C= (p.Thr1184=) c.3600C= (p.Thr1200=) c.3660C= (p.Thr1220=) c.3210C= (p.Thr1070=) c.1512C= (p.Thr504=) c.1329C= (p.Thr443=) c.3561C= (p.Thr1187=) c.3513C= (p.Thr1171=) c.3282C= (p.Thr1094=) c.3183C= (p.Thr1061=) c.2364C= (p.Thr788=) n.3915C=
13	g.51939054G>T	CA483893573	ATP7B	c.1346C>A (n.1346C>A) c.2440C>A (n.2440C>A) c.3075C>A (p.Thr1025=) c.3696C>A (p.Thr1232=) c.3363C>A (p.Thr1121=) c.3444C>A (p.Thr1148=) n.937C>A c.3462C>A (p.Thr1154=) n.3835C>A n.562C>A c.2631C>A (p.Thr877=) c.2406C>A (p.Thr802=) c.3501C>A (p.Thr1167=) c.1474C>A c.797C>A (n.797C>A) n.4440C>A n.3041C>A c.3552C>A (p.Thr1184=) c.3600C>A (p.Thr1200=) c.3660C>A (p.Thr1220=) c.3210C>A (p.Thr1070=) c.1512C>A (p.Thr504=) c.1329C>A (p.Thr443=) c.3561C>A (p.Thr1187=) c.3513C>A (p.Thr1171=) c.3282C>A (p.Thr1094=) c.3183C>A (p.Thr1061=) c.2364C>A (p.Thr788=) n.3915C>A	ClinVar gnomAD v4
13	g.51939055G>A	CA388023539	ATP7B	c.1345C>T (n.1345C>T) c.2439C>T (n.2439C>T) c.3074C>T (p.Thr1025Ile) c.3695C>T (p.Thr1232Ile) c.3362C>T (p.Thr1121Ile) c.3443C>T (p.Thr1148Ile) n.936C>T c.3461C>T (p.Thr1154Ile) n.3834C>T n.561C>T c.2630C>T (p.Thr877Ile) c.2405C>T (p.Thr802Ile) c.3500C>T (p.Thr1167Ile) c.1473C>T c.796C>T (n.796C>T) n.4439C>T n.3040C>T c.3551C>T (p.Thr1184Ile) c.3599C>T (p.Thr1200Ile) c.3659C>T (p.Thr1220Ile) c.3209C>T (p.Thr1070Ile) c.1511C>T (p.Thr504Ile) c.1328C>T (p.Thr443Ile) c.3560C>T (p.Thr1187Ile) c.3512C>T (p.Thr1171Ile) c.3281C>T (p.Thr1094Ile) c.3182C>T (p.Thr1061Ile) c.2363C>T (p.Thr788Ile) n.3914C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.51939055G>C	CA388023536	ATP7B	c.1345C>G (n.1345C>G) c.2439C>G (n.2439C>G) c.3074C>G (p.Thr1025Ser) c.3695C>G (p.Thr1232Ser) c.3362C>G (p.Thr1121Ser) c.3443C>G (p.Thr1148Ser) n.936C>G c.3461C>G (p.Thr1154Ser) n.3834C>G n.561C>G c.2630C>G (p.Thr877Ser) c.2405C>G (p.Thr802Ser) c.3500C>G (p.Thr1167Ser) c.1473C>G c.796C>G (n.796C>G) n.4439C>G n.3040C>G c.3551C>G (p.Thr1184Ser) c.3599C>G (p.Thr1200Ser) c.3659C>G (p.Thr1220Ser) c.3209C>G (p.Thr1070Ser) c.1511C>G (p.Thr504Ser) c.1328C>G (p.Thr443Ser) c.3560C>G (p.Thr1187Ser) c.3512C>G (p.Thr1171Ser) c.3281C>G (p.Thr1094Ser) c.3182C>G (p.Thr1061Ser) c.2363C>G (p.Thr788Ser) n.3914C>G
13	g.51939055G=	CA2091556605	ATP7B	c.1345C= (n.1345C=) c.2439C= (n.2439C=) c.3074C= (p.Thr1025=) c.3695C= (p.Thr1232=) c.3362C= (p.Thr1121=) c.3443C= (p.Thr1148=) n.936C= c.3461C= (p.Thr1154=) n.3834C= n.561C= c.2630C= (p.Thr877=) c.2405C= (p.Thr802=) c.3500C= (p.Thr1167=) c.1473C= c.796C= (n.796C=) n.4439C= n.3040C= c.3551C= (p.Thr1184=) c.3599C= (p.Thr1200=) c.3659C= (p.Thr1220=) c.3209C= (p.Thr1070=) c.1511C= (p.Thr504=) c.1328C= (p.Thr443=) c.3560C= (p.Thr1187=) c.3512C= (p.Thr1171=) c.3281C= (p.Thr1094=) c.3182C= (p.Thr1061=) c.2363C= (p.Thr788=) n.3914C=
13	g.51939055G>T	CA388023534	ATP7B	c.1345C>A (n.1345C>A) c.2439C>A (n.2439C>A) c.3074C>A (p.Thr1025Asn) c.3695C>A (p.Thr1232Asn) c.3362C>A (p.Thr1121Asn) c.3443C>A (p.Thr1148Asn) n.936C>A c.3461C>A (p.Thr1154Asn) n.3834C>A n.561C>A c.2630C>A (p.Thr877Asn) c.2405C>A (p.Thr802Asn) c.3500C>A (p.Thr1167Asn) c.1473C>A c.796C>A (n.796C>A) n.4439C>A n.3040C>A c.3551C>A (p.Thr1184Asn) c.3599C>A (p.Thr1200Asn) c.3659C>A (p.Thr1220Asn) c.3209C>A (p.Thr1070Asn) c.1511C>A (p.Thr504Asn) c.1328C>A (p.Thr443Asn) c.3560C>A (p.Thr1187Asn) c.3512C>A (p.Thr1171Asn) c.3281C>A (p.Thr1094Asn) c.3182C>A (p.Thr1061Asn) c.2363C>A (p.Thr788Asn) n.3914C>A
13	g.51939056T>A	CA388023542	ATP7B	c.1344A>T (n.1344A>T) c.2438A>T (n.2438A>T) c.3073A>T (p.Thr1025Ser) c.3694A>T (p.Thr1232Ser) c.3361A>T (p.Thr1121Ser) c.3442A>T (p.Thr1148Ser) n.935A>T c.3460A>T (p.Thr1154Ser) n.3833A>T n.560A>T c.2629A>T (p.Thr877Ser) c.2404A>T (p.Thr802Ser) c.3499A>T (p.Thr1167Ser) c.1472A>T c.795A>T (n.795A>T) n.4438A>T n.3039A>T c.3550A>T (p.Thr1184Ser) c.3598A>T (p.Thr1200Ser) c.3658A>T (p.Thr1220Ser) c.3208A>T (p.Thr1070Ser) c.1510A>T (p.Thr504Ser) c.1327A>T (p.Thr443Ser) c.3559A>T (p.Thr1187Ser) c.3511A>T (p.Thr1171Ser) c.3280A>T (p.Thr1094Ser) c.3181A>T (p.Thr1061Ser) c.2362A>T (p.Thr788Ser) n.3913A>T
13	g.51939056T>C	CA388023544	ATP7B	c.1344A>G (n.1344A>G) c.2438A>G (n.2438A>G) c.3073A>G (p.Thr1025Ala) c.3694A>G (p.Thr1232Ala) c.3361A>G (p.Thr1121Ala) c.3442A>G (p.Thr1148Ala) n.935A>G c.3460A>G (p.Thr1154Ala) n.3833A>G n.560A>G c.2629A>G (p.Thr877Ala) c.2404A>G (p.Thr802Ala) c.3499A>G (p.Thr1167Ala) c.1472A>G c.795A>G (n.795A>G) n.4438A>G n.3039A>G c.3550A>G (p.Thr1184Ala) c.3598A>G (p.Thr1200Ala) c.3658A>G (p.Thr1220Ala) c.3208A>G (p.Thr1070Ala) c.1510A>G (p.Thr504Ala) c.1327A>G (p.Thr443Ala) c.3559A>G (p.Thr1187Ala) c.3511A>G (p.Thr1171Ala) c.3280A>G (p.Thr1094Ala) c.3181A>G (p.Thr1061Ala) c.2362A>G (p.Thr788Ala) n.3913A>G
13	g.51939056T>G	CA6988608	ATP7B	c.1344A>C (n.1344A>C) c.2438A>C (n.2438A>C) c.3073A>C (p.Thr1025Pro) c.3694A>C (p.Thr1232Pro) c.3361A>C (p.Thr1121Pro) c.3442A>C (p.Thr1148Pro) n.935A>C c.3460A>C (p.Thr1154Pro) n.3833A>C n.560A>C c.2629A>C (p.Thr877Pro) c.2404A>C (p.Thr802Pro) c.3499A>C (p.Thr1167Pro) c.1472A>C c.795A>C (n.795A>C) n.4438A>C n.3039A>C c.3550A>C (p.Thr1184Pro) c.3598A>C (p.Thr1200Pro) c.3658A>C (p.Thr1220Pro) c.3208A>C (p.Thr1070Pro) c.1510A>C (p.Thr504Pro) c.1327A>C (p.Thr443Pro) c.3559A>C (p.Thr1187Pro) c.3511A>C (p.Thr1171Pro) c.3280A>C (p.Thr1094Pro) c.3181A>C (p.Thr1061Pro) c.2362A>C (p.Thr788Pro) n.3913A>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.51939056T=	CA2091556613	ATP7B	c.1344A= (n.1344A=) c.2438A= (n.2438A=) c.3073A= (p.Thr1025=) c.3694A= (p.Thr1232=) c.3361A= (p.Thr1121=) c.3442A= (p.Thr1148=) n.935A= c.3460A= (p.Thr1154=) n.3833A= n.560A= c.2629A= (p.Thr877=) c.2404A= (p.Thr802=) c.3499A= (p.Thr1167=) c.1472A= c.795A= (n.795A=) n.4438A= n.3039A= c.3550A= (p.Thr1184=) c.3598A= (p.Thr1200=) c.3658A= (p.Thr1220=) c.3208A= (p.Thr1070=) c.1510A= (p.Thr504=) c.1327A= (p.Thr443=) c.3559A= (p.Thr1187=) c.3511A= (p.Thr1171=) c.3280A= (p.Thr1094=) c.3181A= (p.Thr1061=) c.2362A= (p.Thr788=) n.3913A=
13	g.51939056_51939057delinsTG	CA2091556620	ATP7B	c.1343_1344delinsCA (n.1343_1344delinsCA) c.2437_2438delinsCA (n.2437_2438delinsCA) c.3072_3073delinsCA (p.Ala1024=) c.3693_3694delinsCA (p.Ala1231=) c.3360_3361delinsCA (p.Ala1120=) c.3441_3442delinsCA (p.Ala1147=) n.934_935delinsCA c.3459_3460delinsCA (p.Ala1153=) n.3832_3833delinsCA n.559_560delinsCA c.2628_2629delinsCA (p.Ala876=) c.2403_2404delinsCA (p.Ala801=) c.3498_3499delinsCA (p.Ala1166=) c.1471_1472delinsCA c.794_795delinsCA (n.794_795delinsCA) n.4437_4438delinsCA n.3038_3039delinsCA c.3549_3550delinsCA (p.Ala1183=) c.3597_3598delinsCA (p.Ala1199=) c.3657_3658delinsCA (p.Ala1219=) c.3207_3208delinsCA (p.Ala1069=) c.1509_1510delinsCA (p.Ala503=) c.1326_1327delinsCA (p.Ala442=) c.3558_3559delinsCA (p.Ala1186=) c.3510_3511delinsCA (p.Ala1170=) c.3279_3280delinsCA (p.Ala1093=) c.3180_3181delinsCA (p.Ala1060=) c.2361_2362delinsCA (p.Ala787=) n.3912_3913delinsCA
13	g.51939056_51939057insACCA	CA2514975998	ATP7B	c.1343_1344insTGGT (n.1343_1344insTGGT) c.2437_2438insTGGT (n.2437_2438insTGGT) c.3072_3073insTGGT (p.Thr1025TrpfsTer28) c.3693_3694insTGGT (p.Thr1232TrpfsTer28) c.3360_3361insTGGT (p.Thr1121TrpfsTer28) c.3441_3442insTGGT (p.Thr1148TrpfsTer28) n.934_935insTGGT c.3459_3460insTGGT (p.Thr1154TrpfsTer28) n.3832_3833insTGGT n.559_560insTGGT c.2628_2629insTGGT (p.Thr877TrpfsTer28) c.2403_2404insTGGT (p.Thr802TrpfsTer28) c.3498_3499insTGGT (p.Thr1167TrpfsTer28) c.1471_1472insTGGT c.794_795insTGGT (n.794_795insTGGT) n.4437_4438insTGGT n.3038_3039insTGGT c.3549_3550insTGGT (p.Thr1184TrpfsTer28) c.3597_3598insTGGT (p.Thr1200TrpfsTer28) c.3657_3658insTGGT (p.Thr1220TrpfsTer28) c.3207_3208insTGGT (p.Thr1070TrpfsTer28) c.1509_1510insTGGT (p.Thr504TrpfsTer28) c.1326_1327insTGGT (p.Thr443TrpfsTer28) c.3558_3559insTGGT (p.Thr1187TrpfsTer28) c.3510_3511insTGGT (p.Thr1171TrpfsTer28) c.3279_3280insTGGT (p.Thr1094TrpfsTer28) c.3180_3181insTGGT (p.Thr1061TrpfsTer28) c.2361_2362insTGGT (p.Thr788TrpfsTer28) n.3912_3913insTGGT	gnomAD v4
13	g.51939056_51939057insTAATGTACCAG	CA2573149698	ATP7B	c.1343_1344insCTGGTACATTA (n.1343_1344insCTGGTACATTA) c.2437_2438insCTGGTACATTA (n.2437_2438insCTGGTACATTA) c.3072_3073insCTGGTACATTA (p.Thr1025LeufsTer4) c.3693_3694insCTGGTACATTA (p.Thr1232LeufsTer4) c.3360_3361insCTGGTACATTA (p.Thr1121LeufsTer4) c.3441_3442insCTGGTACATTA (p.Thr1148LeufsTer4) n.934_935insCTGGTACATTA c.3459_3460insCTGGTACATTA (p.Thr1154LeufsTer4) n.3832_3833insCTGGTACATTA n.559_560insCTGGTACATTA c.2628_2629insCTGGTACATTA (p.Thr877LeufsTer4) c.2403_2404insCTGGTACATTA (p.Thr802LeufsTer4) c.3498_3499insCTGGTACATTA (p.Thr1167LeufsTer4) c.1471_1472insCTGGTACATTA c.794_795insCTGGTACATTA (n.794_795insCTGGTACATTA) n.4437_4438insCTGGTACATTA n.3038_3039insCTGGTACATTA c.3549_3550insCTGGTACATTA (p.Thr1184LeufsTer4) c.3597_3598insCTGGTACATTA (p.Thr1200LeufsTer4) c.3657_3658insCTGGTACATTA (p.Thr1220LeufsTer4) c.3207_3208insCTGGTACATTA (p.Thr1070LeufsTer4) c.1509_1510insCTGGTACATTA (p.Thr504LeufsTer4) c.1326_1327insCTGGTACATTA (p.Thr443LeufsTer4) c.3558_3559insCTGGTACATTA (p.Thr1187LeufsTer4) c.3510_3511insCTGGTACATTA (p.Thr1171LeufsTer4) c.3279_3280insCTGGTACATTA (p.Thr1094LeufsTer4) c.3180_3181insCTGGTACATTA (p.Thr1061LeufsTer4) c.2361_2362insCTGGTACATTA (p.Thr788LeufsTer4) n.3912_3913insCTGGTACATTA	dbSNP
13	g.51939057G>A	CA483893582	ATP7B	c.1343C>T (n.1343C>T) c.2437C>T (n.2437C>T) c.3072C>T (p.Ala1024=) c.3693C>T (p.Ala1231=) c.3360C>T (p.Ala1120=) c.3441C>T (p.Ala1147=) n.934C>T c.3459C>T (p.Ala1153=) n.3832C>T n.559C>T c.2628C>T (p.Ala876=) c.2403C>T (p.Ala801=) c.3498C>T (p.Ala1166=) c.1471C>T c.794C>T (n.794C>T) n.4437C>T n.3038C>T c.3549C>T (p.Ala1183=) c.3597C>T (p.Ala1199=) c.3657C>T (p.Ala1219=) c.3207C>T (p.Ala1069=) c.1509C>T (p.Ala503=) c.1326C>T (p.Ala442=) c.3558C>T (p.Ala1186=) c.3510C>T (p.Ala1170=) c.3279C>T (p.Ala1093=) c.3180C>T (p.Ala1060=) c.2361C>T (p.Ala787=) n.3912C>T	gnomAD v4
13	g.51939057G>C	CA483893584	ATP7B	c.1343C>G (n.1343C>G) c.2437C>G (n.2437C>G) c.3072C>G (p.Ala1024=) c.3693C>G (p.Ala1231=) c.3360C>G (p.Ala1120=) c.3441C>G (p.Ala1147=) n.934C>G c.3459C>G (p.Ala1153=) n.3832C>G n.559C>G c.2628C>G (p.Ala876=) c.2403C>G (p.Ala801=) c.3498C>G (p.Ala1166=) c.1471C>G c.794C>G (n.794C>G) n.4437C>G n.3038C>G c.3549C>G (p.Ala1183=) c.3597C>G (p.Ala1199=) c.3657C>G (p.Ala1219=) c.3207C>G (p.Ala1069=) c.1509C>G (p.Ala503=) c.1326C>G (p.Ala442=) c.3558C>G (p.Ala1186=) c.3510C>G (p.Ala1170=) c.3279C>G (p.Ala1093=) c.3180C>G (p.Ala1060=) c.2361C>G (p.Ala787=) n.3912C>G
13	g.51939057G>T	CA483893585	ATP7B	c.1343C>A (n.1343C>A) c.2437C>A (n.2437C>A) c.3072C>A (p.Ala1024=) c.3693C>A (p.Ala1231=) c.3360C>A (p.Ala1120=) c.3441C>A (p.Ala1147=) n.934C>A c.3459C>A (p.Ala1153=) n.3832C>A n.559C>A c.2628C>A (p.Ala876=) c.2403C>A (p.Ala801=) c.3498C>A (p.Ala1166=) c.1471C>A c.794C>A (n.794C>A) n.4437C>A n.3038C>A c.3549C>A (p.Ala1183=) c.3597C>A (p.Ala1199=) c.3657C>A (p.Ala1219=) c.3207C>A (p.Ala1069=) c.1509C>A (p.Ala503=) c.1326C>A (p.Ala442=) c.3558C>A (p.Ala1186=) c.3510C>A (p.Ala1170=) c.3279C>A (p.Ala1093=) c.3180C>A (p.Ala1060=) c.2361C>A (p.Ala787=) n.3912C>A
13	g.51939057delinsTAATGTTAATGTACCAGA	CA1139663302	ATP7B	c.1343delinsTCTGGTACATTAACATTA (n.1343delinsTCTGGTACATTAACATTA) c.2437delinsTCTGGTACATTAACATTA (n.2437delinsTCTGGTACATTAACATTA) c.3072delinsTCTGGTACATTAACATTA (p.Thr1025LeufsTer4) c.3693delinsTCTGGTACATTAACATTA (p.Thr1232LeufsTer4) c.3360delinsTCTGGTACATTAACATTA (p.Thr1121LeufsTer4) c.3441delinsTCTGGTACATTAACATTA (p.Thr1148LeufsTer4) n.934delinsTCTGGTACATTAACATTA c.3459delinsTCTGGTACATTAACATTA (p.Thr1154LeufsTer4) n.3832delinsTCTGGTACATTAACATTA n.559delinsTCTGGTACATTAACATTA c.2628delinsTCTGGTACATTAACATTA (p.Thr877LeufsTer4) c.2403delinsTCTGGTACATTAACATTA (p.Thr802LeufsTer4) c.3498delinsTCTGGTACATTAACATTA (p.Thr1167LeufsTer4) c.1471delinsTCTGGTACATTAACATTA c.794delinsTCTGGTACATTAACATTA (n.794delinsTCTGGTACATTAACATTA) n.4437delinsTCTGGTACATTAACATTA n.3038delinsTCTGGTACATTAACATTA c.3549delinsTCTGGTACATTAACATTA (p.Thr1184LeufsTer4) c.3597delinsTCTGGTACATTAACATTA (p.Thr1200LeufsTer4) c.3657delinsTCTGGTACATTAACATTA (p.Thr1220LeufsTer4) c.3207delinsTCTGGTACATTAACATTA (p.Thr1070LeufsTer4) c.1509delinsTCTGGTACATTAACATTA (p.Thr504LeufsTer4) c.1326delinsTCTGGTACATTAACATTA (p.Thr443LeufsTer4) c.3558delinsTCTGGTACATTAACATTA (p.Thr1187LeufsTer4) c.3510delinsTCTGGTACATTAACATTA (p.Thr1171LeufsTer4) c.3279delinsTCTGGTACATTAACATTA (p.Thr1094LeufsTer4) c.3180delinsTCTGGTACATTAACATTA (p.Thr1061LeufsTer4) c.2361delinsTCTGGTACATTAACATTA (p.Thr788LeufsTer4) n.3912delinsTCTGGTACATTAACATTA	ClinVar dbSNP
13	g.51939057_51939058insA	CA2506012428	ATP7B	c.1342_1343insT (n.1342_1343insT) c.2436_2437insT (n.2436_2437insT) c.3071_3072insT (p.Thr1025HisfsTer27) c.3692_3693insT (p.Thr1232HisfsTer27) c.3359_3360insT (p.Thr1121HisfsTer27) c.3440_3441insT (p.Thr1148HisfsTer27) n.933_934insT c.3458_3459insT (p.Thr1154HisfsTer27) n.3831_3832insT n.558_559insT c.2627_2628insT (p.Thr877HisfsTer27) c.2402_2403insT (p.Thr802HisfsTer27) c.3497_3498insT (p.Thr1167HisfsTer27) c.1470_1471insT c.793_794insT (n.793_794insT) n.4436_4437insT n.3037_3038insT c.3548_3549insT (p.Thr1184HisfsTer27) c.3596_3597insT (p.Thr1200HisfsTer27) c.3656_3657insT (p.Thr1220HisfsTer27) c.3206_3207insT (p.Thr1070HisfsTer27) c.1508_1509insT (p.Thr504HisfsTer27) c.1325_1326insT (p.Thr443HisfsTer27) c.3557_3558insT (p.Thr1187HisfsTer27) c.3509_3510insT (p.Thr1171HisfsTer27) c.3278_3279insT (p.Thr1094HisfsTer27) c.3179_3180insT (p.Thr1061HisfsTer27) c.2360_2361insT (p.Thr788HisfsTer27) n.3911_3912insT	gnomAD v4
13	g.51939058G>A	CA388023555	ATP7B	c.1342C>T (n.1342C>T) c.2436C>T (n.2436C>T) c.3071C>T (p.Ala1024Val) c.3692C>T (p.Ala1231Val) c.3359C>T (p.Ala1120Val) c.3440C>T (p.Ala1147Val) n.933C>T c.3458C>T (p.Ala1153Val) n.3831C>T n.558C>T c.2627C>T (p.Ala876Val) c.2402C>T (p.Ala801Val) c.3497C>T (p.Ala1166Val) c.1470C>T c.793C>T (n.793C>T) n.4436C>T n.3037C>T c.3548C>T (p.Ala1183Val) c.3596C>T (p.Ala1199Val) c.3656C>T (p.Ala1219Val) c.3206C>T (p.Ala1069Val) c.1508C>T (p.Ala503Val) c.1325C>T (p.Ala442Val) c.3557C>T (p.Ala1186Val) c.3509C>T (p.Ala1170Val) c.3278C>T (p.Ala1093Val) c.3179C>T (p.Ala1060Val) c.2360C>T (p.Ala787Val) n.3911C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.51939058G>C	CA388023559	ATP7B	c.1342C>G (n.1342C>G) c.2436C>G (n.2436C>G) c.3071C>G (p.Ala1024Gly) c.3692C>G (p.Ala1231Gly) c.3359C>G (p.Ala1120Gly) c.3440C>G (p.Ala1147Gly) n.933C>G c.3458C>G (p.Ala1153Gly) n.3831C>G n.558C>G c.2627C>G (p.Ala876Gly) c.2402C>G (p.Ala801Gly) c.3497C>G (p.Ala1166Gly) c.1470C>G c.793C>G (n.793C>G) n.4436C>G n.3037C>G c.3548C>G (p.Ala1183Gly) c.3596C>G (p.Ala1199Gly) c.3656C>G (p.Ala1219Gly) c.3206C>G (p.Ala1069Gly) c.1508C>G (p.Ala503Gly) c.1325C>G (p.Ala442Gly) c.3557C>G (p.Ala1186Gly) c.3509C>G (p.Ala1170Gly) c.3278C>G (p.Ala1093Gly) c.3179C>G (p.Ala1060Gly) c.2360C>G (p.Ala787Gly) n.3911C>G
13	g.51939058G=	CA2091556632	ATP7B	c.1342C= (n.1342C=) c.2436C= (n.2436C=) c.3071C= (p.Ala1024=) c.3692C= (p.Ala1231=) c.3359C= (p.Ala1120=) c.3440C= (p.Ala1147=) n.933C= c.3458C= (p.Ala1153=) n.3831C= n.558C= c.2627C= (p.Ala876=) c.2402C= (p.Ala801=) c.3497C= (p.Ala1166=) c.1470C= c.793C= (n.793C=) n.4436C= n.3037C= c.3548C= (p.Ala1183=) c.3596C= (p.Ala1199=) c.3656C= (p.Ala1219=) c.3206C= (p.Ala1069=) c.1508C= (p.Ala503=) c.1325C= (p.Ala442=) c.3557C= (p.Ala1186=) c.3509C= (p.Ala1170=) c.3278C= (p.Ala1093=) c.3179C= (p.Ala1060=) c.2360C= (p.Ala787=) n.3911C=
13	g.51939058G>T	CA388023569	ATP7B	c.1342C>A (n.1342C>A) c.2436C>A (n.2436C>A) c.3071C>A (p.Ala1024Asp) c.3692C>A (p.Ala1231Asp) c.3359C>A (p.Ala1120Asp) c.3440C>A (p.Ala1147Asp) n.933C>A c.3458C>A (p.Ala1153Asp) n.3831C>A n.558C>A c.2627C>A (p.Ala876Asp) c.2402C>A (p.Ala801Asp) c.3497C>A (p.Ala1166Asp) c.1470C>A c.793C>A (n.793C>A) n.4436C>A n.3037C>A c.3548C>A (p.Ala1183Asp) c.3596C>A (p.Ala1199Asp) c.3656C>A (p.Ala1219Asp) c.3206C>A (p.Ala1069Asp) c.1508C>A (p.Ala503Asp) c.1325C>A (p.Ala442Asp) c.3557C>A (p.Ala1186Asp) c.3509C>A (p.Ala1170Asp) c.3278C>A (p.Ala1093Asp) c.3179C>A (p.Ala1060Asp) c.2360C>A (p.Ala787Asp) n.3911C>A
13	g.51939059del	CA2573149699	ATP7B	c.1341del (n.1341del) c.2435del (n.2435del) c.3070del (p.Ala1024ProfsTer?) c.3691del (p.Ala1231ProfsTer?) c.3358del (p.Ala1120ProfsTer?) c.3439del (p.Ala1147ProfsTer?) n.932del c.3457del (p.Ala1153ProfsTer?) n.3830del n.557del c.2626del (p.Ala876ProfsTer?) c.2401del (p.Ala801ProfsTer?) c.3496del (p.Ala1166ProfsTer?) c.1469del c.792del (n.792del) n.4435del n.3036del c.3547del (p.Ala1183ProfsTer?) c.3595del (p.Ala1199ProfsTer?) c.3655del (p.Ala1219ProfsTer?) c.3205del (p.Ala1069ProfsTer?) c.1507del (p.Ala503ProfsTer?) c.1324del (p.Ala442ProfsTer?) c.3556del (p.Ala1186ProfsTer?) c.3508del (p.Ala1170ProfsTer?) c.3277del (p.Ala1093ProfsTer?) c.3178del (p.Ala1060ProfsTer?) c.2359del (p.Ala787ProfsTer?) n.3910del	ClinVar dbSNP
13	g.51939059C>A	CA388023573	ATP7B	c.1341G>T (n.1341G>T) c.2435G>T (n.2435G>T) c.3070G>T (p.Ala1024Ser) c.3691G>T (p.Ala1231Ser) c.3358G>T (p.Ala1120Ser) c.3439G>T (p.Ala1147Ser) n.932G>T c.3457G>T (p.Ala1153Ser) n.3830G>T n.557G>T c.2626G>T (p.Ala876Ser) c.2401G>T (p.Ala801Ser) c.3496G>T (p.Ala1166Ser) c.1469G>T c.792G>T (n.792G>T) n.4435G>T n.3036G>T c.3547G>T (p.Ala1183Ser) c.3595G>T (p.Ala1199Ser) c.3655G>T (p.Ala1219Ser) c.3205G>T (p.Ala1069Ser) c.1507G>T (p.Ala503Ser) c.1324G>T (p.Ala442Ser) c.3556G>T (p.Ala1186Ser) c.3508G>T (p.Ala1170Ser) c.3277G>T (p.Ala1093Ser) c.3178G>T (p.Ala1060Ser) c.2359G>T (p.Ala787Ser) n.3910G>T
13	g.51939059C>G	CA388023577	ATP7B	c.1341G>C (n.1341G>C) c.2435G>C (n.2435G>C) c.3070G>C (p.Ala1024Pro) c.3691G>C (p.Ala1231Pro) c.3358G>C (p.Ala1120Pro) c.3439G>C (p.Ala1147Pro) n.932G>C c.3457G>C (p.Ala1153Pro) n.3830G>C n.557G>C c.2626G>C (p.Ala876Pro) c.2401G>C (p.Ala801Pro) c.3496G>C (p.Ala1166Pro) c.1469G>C c.792G>C (n.792G>C) n.4435G>C n.3036G>C c.3547G>C (p.Ala1183Pro) c.3595G>C (p.Ala1199Pro) c.3655G>C (p.Ala1219Pro) c.3205G>C (p.Ala1069Pro) c.1507G>C (p.Ala503Pro) c.1324G>C (p.Ala442Pro) c.3556G>C (p.Ala1186Pro) c.3508G>C (p.Ala1170Pro) c.3277G>C (p.Ala1093Pro) c.3178G>C (p.Ala1060Pro) c.2359G>C (p.Ala787Pro) n.3910G>C
13	g.51939059C>T	CA388023575	ATP7B	c.1341G>A (n.1341G>A) c.2435G>A (n.2435G>A) c.3070G>A (p.Ala1024Thr) c.3691G>A (p.Ala1231Thr) c.3358G>A (p.Ala1120Thr) c.3439G>A (p.Ala1147Thr) n.932G>A c.3457G>A (p.Ala1153Thr) n.3830G>A n.557G>A c.2626G>A (p.Ala876Thr) c.2401G>A (p.Ala801Thr) c.3496G>A (p.Ala1166Thr) c.1469G>A c.792G>A (n.792G>A) n.4435G>A n.3036G>A c.3547G>A (p.Ala1183Thr) c.3595G>A (p.Ala1199Thr) c.3655G>A (p.Ala1219Thr) c.3205G>A (p.Ala1069Thr) c.1507G>A (p.Ala503Thr) c.1324G>A (p.Ala442Thr) c.3556G>A (p.Ala1186Thr) c.3508G>A (p.Ala1170Thr) c.3277G>A (p.Ala1093Thr) c.3178G>A (p.Ala1060Thr) c.2359G>A (p.Ala787Thr) n.3910G>A	gnomAD v4
13	g.51939060A>C	CA388023580	ATP7B	c.1340T>G (n.1340T>G) c.2434T>G (n.2434T>G) c.3069T>G (p.Ile1023Met) c.3690T>G (p.Ile1230Met) c.3357T>G (p.Ile1119Met) c.3438T>G (p.Ile1146Met) n.931T>G c.3456T>G (p.Ile1152Met) n.3829T>G n.556T>G c.2625T>G (p.Ile875Met) c.2400T>G (p.Ile800Met) c.3495T>G (p.Ile1165Met) c.1468T>G c.791T>G (n.791T>G) n.4434T>G n.3035T>G c.3546T>G (p.Ile1182Met) c.3594T>G (p.Ile1198Met) c.3654T>G (p.Ile1218Met) c.3204T>G (p.Ile1068Met) c.1506T>G (p.Ile502Met) c.1323T>G (p.Ile441Met) c.3555T>G (p.Ile1185Met) c.3507T>G (p.Ile1169Met) c.3276T>G (p.Ile1092Met) c.3177T>G (p.Ile1059Met) c.2358T>G (p.Ile786Met) n.3909T>G	gnomAD v4
13	g.51939060A>G	CA483893595	ATP7B	c.1340T>C (n.1340T>C) c.2434T>C (n.2434T>C) c.3069T>C (p.Ile1023=) c.3690T>C (p.Ile1230=) c.3357T>C (p.Ile1119=) c.3438T>C (p.Ile1146=) n.931T>C c.3456T>C (p.Ile1152=) n.3829T>C n.556T>C c.2625T>C (p.Ile875=) c.2400T>C (p.Ile800=) c.3495T>C (p.Ile1165=) c.1468T>C c.791T>C (n.791T>C) n.4434T>C n.3035T>C c.3546T>C (p.Ile1182=) c.3594T>C (p.Ile1198=) c.3654T>C (p.Ile1218=) c.3204T>C (p.Ile1068=) c.1506T>C (p.Ile502=) c.1323T>C (p.Ile441=) c.3555T>C (p.Ile1185=) c.3507T>C (p.Ile1169=) c.3276T>C (p.Ile1092=) c.3177T>C (p.Ile1059=) c.2358T>C (p.Ile786=) n.3909T>C
13	g.51939060A>T	CA483893596	ATP7B	c.1340T>A (n.1340T>A) c.2434T>A (n.2434T>A) c.3069T>A (p.Ile1023=) c.3690T>A (p.Ile1230=) c.3357T>A (p.Ile1119=) c.3438T>A (p.Ile1146=) n.931T>A c.3456T>A (p.Ile1152=) n.3829T>A n.556T>A c.2625T>A (p.Ile875=) c.2400T>A (p.Ile800=) c.3495T>A (p.Ile1165=) c.1468T>A c.791T>A (n.791T>A) n.4434T>A n.3035T>A c.3546T>A (p.Ile1182=) c.3594T>A (p.Ile1198=) c.3654T>A (p.Ile1218=) c.3204T>A (p.Ile1068=) c.1506T>A (p.Ile502=) c.1323T>A (p.Ile441=) c.3555T>A (p.Ile1185=) c.3507T>A (p.Ile1169=) c.3276T>A (p.Ile1092=) c.3177T>A (p.Ile1059=) c.2358T>A (p.Ile786=) n.3909T>A	gnomAD v4
13	g.51939061A>C	CA388023586	ATP7B	c.1339T>G (n.1339T>G) c.2433T>G (n.2433T>G) c.3068T>G (p.Ile1023Ser) c.3689T>G (p.Ile1230Ser) c.3356T>G (p.Ile1119Ser) c.3437T>G (p.Ile1146Ser) n.930T>G c.3455T>G (p.Ile1152Ser) n.3828T>G n.555T>G c.2624T>G (p.Ile875Ser) c.2399T>G (p.Ile800Ser) c.3494T>G (p.Ile1165Ser) c.1467T>G c.790T>G (n.790T>G) n.4433T>G n.3034T>G c.3545T>G (p.Ile1182Ser) c.3593T>G (p.Ile1198Ser) c.3653T>G (p.Ile1218Ser) c.3203T>G (p.Ile1068Ser) c.1505T>G (p.Ile502Ser) c.1322T>G (p.Ile441Ser) c.3554T>G (p.Ile1185Ser) c.3506T>G (p.Ile1169Ser) c.3275T>G (p.Ile1092Ser) c.3176T>G (p.Ile1059Ser) c.2357T>G (p.Ile786Ser) n.3908T>G
13	g.51939061A>G	CA388023595	ATP7B	c.1339T>C (n.1339T>C) c.2433T>C (n.2433T>C) c.3068T>C (p.Ile1023Thr) c.3689T>C (p.Ile1230Thr) c.3356T>C (p.Ile1119Thr) c.3437T>C (p.Ile1146Thr) n.930T>C c.3455T>C (p.Ile1152Thr) n.3828T>C n.555T>C c.2624T>C (p.Ile875Thr) c.2399T>C (p.Ile800Thr) c.3494T>C (p.Ile1165Thr) c.1467T>C c.790T>C (n.790T>C) n.4433T>C n.3034T>C c.3545T>C (p.Ile1182Thr) c.3593T>C (p.Ile1198Thr) c.3653T>C (p.Ile1218Thr) c.3203T>C (p.Ile1068Thr) c.1505T>C (p.Ile502Thr) c.1322T>C (p.Ile441Thr) c.3554T>C (p.Ile1185Thr) c.3506T>C (p.Ile1169Thr) c.3275T>C (p.Ile1092Thr) c.3176T>C (p.Ile1059Thr) c.2357T>C (p.Ile786Thr) n.3908T>C
13	g.51939061A>T	CA388023599	ATP7B	c.1339T>A (n.1339T>A) c.2433T>A (n.2433T>A) c.3068T>A (p.Ile1023Asn) c.3689T>A (p.Ile1230Asn) c.3356T>A (p.Ile1119Asn) c.3437T>A (p.Ile1146Asn) n.930T>A c.3455T>A (p.Ile1152Asn) n.3828T>A n.555T>A c.2624T>A (p.Ile875Asn) c.2399T>A (p.Ile800Asn) c.3494T>A (p.Ile1165Asn) c.1467T>A c.790T>A (n.790T>A) n.4433T>A n.3034T>A c.3545T>A (p.Ile1182Asn) c.3593T>A (p.Ile1198Asn) c.3653T>A (p.Ile1218Asn) c.3203T>A (p.Ile1068Asn) c.1505T>A (p.Ile502Asn) c.1322T>A (p.Ile441Asn) c.3554T>A (p.Ile1185Asn) c.3506T>A (p.Ile1169Asn) c.3275T>A (p.Ile1092Asn) c.3176T>A (p.Ile1059Asn) c.2357T>A (p.Ile786Asn) n.3908T>A
13	g.51939062T>A	CA388023605	ATP7B	c.1338A>T (n.1338A>T) c.2432A>T (n.2432A>T) c.3067A>T (p.Ile1023Phe) c.3688A>T (p.Ile1230Phe) c.3355A>T (p.Ile1119Phe) c.3436A>T (p.Ile1146Phe) n.929A>T c.3454A>T (p.Ile1152Phe) n.3827A>T n.554A>T c.2623A>T (p.Ile875Phe) c.2398A>T (p.Ile800Phe) c.3493A>T (p.Ile1165Phe) c.1466A>T c.789A>T (n.789A>T) n.4432A>T n.3033A>T c.3544A>T (p.Ile1182Phe) c.3592A>T (p.Ile1198Phe) c.3652A>T (p.Ile1218Phe) c.3202A>T (p.Ile1068Phe) c.1504A>T (p.Ile502Phe) c.1321A>T (p.Ile441Phe) c.3553A>T (p.Ile1185Phe) c.3505A>T (p.Ile1169Phe) c.3274A>T (p.Ile1092Phe) c.3175A>T (p.Ile1059Phe) c.2356A>T (p.Ile786Phe) n.3907A>T
13	g.51939062T>C	CA6988609	ATP7B	c.1338A>G (n.1338A>G) c.2432A>G (n.2432A>G) c.3067A>G (p.Ile1023Val) c.3688A>G (p.Ile1230Val) c.3355A>G (p.Ile1119Val) c.3436A>G (p.Ile1146Val) n.929A>G c.3454A>G (p.Ile1152Val) n.3827A>G n.554A>G c.2623A>G (p.Ile875Val) c.2398A>G (p.Ile800Val) c.3493A>G (p.Ile1165Val) c.1466A>G c.789A>G (n.789A>G) n.4432A>G n.3033A>G c.3544A>G (p.Ile1182Val) c.3592A>G (p.Ile1198Val) c.3652A>G (p.Ile1218Val) c.3202A>G (p.Ile1068Val) c.1504A>G (p.Ile502Val) c.1321A>G (p.Ile441Val) c.3553A>G (p.Ile1185Val) c.3505A>G (p.Ile1169Val) c.3274A>G (p.Ile1092Val) c.3175A>G (p.Ile1059Val) c.2356A>G (p.Ile786Val) n.3907A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.51939062T>G	CA6988610	ATP7B	c.1338A>C (n.1338A>C) c.2432A>C (n.2432A>C) c.3067A>C (p.Ile1023Leu) c.3688A>C (p.Ile1230Leu) c.3355A>C (p.Ile1119Leu) c.3436A>C (p.Ile1146Leu) n.929A>C c.3454A>C (p.Ile1152Leu) n.3827A>C n.554A>C c.2623A>C (p.Ile875Leu) c.2398A>C (p.Ile800Leu) c.3493A>C (p.Ile1165Leu) c.1466A>C c.789A>C (n.789A>C) n.4432A>C n.3033A>C c.3544A>C (p.Ile1182Leu) c.3592A>C (p.Ile1198Leu) c.3652A>C (p.Ile1218Leu) c.3202A>C (p.Ile1068Leu) c.1504A>C (p.Ile502Leu) c.1321A>C (p.Ile441Leu) c.3553A>C (p.Ile1185Leu) c.3505A>C (p.Ile1169Leu) c.3274A>C (p.Ile1092Leu) c.3175A>C (p.Ile1059Leu) c.2356A>C (p.Ile786Leu) n.3907A>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.51939062T=	CA2091556642	ATP7B	c.1338A= (n.1338A=) c.2432A= (n.2432A=) c.3067A= (p.Ile1023=) c.3688A= (p.Ile1230=) c.3355A= (p.Ile1119=) c.3436A= (p.Ile1146=) n.929A= c.3454A= (p.Ile1152=) n.3827A= n.554A= c.2623A= (p.Ile875=) c.2398A= (p.Ile800=) c.3493A= (p.Ile1165=) c.1466A= c.789A= (n.789A=) n.4432A= n.3033A= c.3544A= (p.Ile1182=) c.3592A= (p.Ile1198=) c.3652A= (p.Ile1218=) c.3202A= (p.Ile1068=) c.1504A= (p.Ile502=) c.1321A= (p.Ile441=) c.3553A= (p.Ile1185=) c.3505A= (p.Ile1169=) c.3274A= (p.Ile1092=) c.3175A= (p.Ile1059=) c.2356A= (p.Ile786=) n.3907A=
13	g.51939063A>C	CA483893605	ATP7B	c.1337T>G (n.1337T>G) c.2431T>G (n.2431T>G) c.3066T>G (p.Ala1022=) c.3687T>G (p.Ala1229=) c.3354T>G (p.Ala1118=) c.3435T>G (p.Ala1145=) n.928T>G c.3453T>G (p.Ala1151=) n.3826T>G n.553T>G c.2622T>G (p.Ala874=) c.2397T>G (p.Ala799=) c.3492T>G (p.Ala1164=) c.1465T>G c.788T>G (n.788T>G) n.4431T>G n.3032T>G c.3543T>G (p.Ala1181=) c.3591T>G (p.Ala1197=) c.3651T>G (p.Ala1217=) c.3201T>G (p.Ala1067=) c.1503T>G (p.Ala501=) c.1320T>G (p.Ala440=) c.3552T>G (p.Ala1184=) c.3504T>G (p.Ala1168=) c.3273T>G (p.Ala1091=) c.3174T>G (p.Ala1058=) c.2355T>G (p.Ala785=) n.3906T>G
13	g.51939063A>G	CA483893607	ATP7B	c.1337T>C (n.1337T>C) c.2431T>C (n.2431T>C) c.3066T>C (p.Ala1022=) c.3687T>C (p.Ala1229=) c.3354T>C (p.Ala1118=) c.3435T>C (p.Ala1145=) n.928T>C c.3453T>C (p.Ala1151=) n.3826T>C n.553T>C c.2622T>C (p.Ala874=) c.2397T>C (p.Ala799=) c.3492T>C (p.Ala1164=) c.1465T>C c.788T>C (n.788T>C) n.4431T>C n.3032T>C c.3543T>C (p.Ala1181=) c.3591T>C (p.Ala1197=) c.3651T>C (p.Ala1217=) c.3201T>C (p.Ala1067=) c.1503T>C (p.Ala501=) c.1320T>C (p.Ala440=) c.3552T>C (p.Ala1184=) c.3504T>C (p.Ala1168=) c.3273T>C (p.Ala1091=) c.3174T>C (p.Ala1058=) c.2355T>C (p.Ala785=) n.3906T>C	dbSNP
13	g.51939063A>T	CA483893609	ATP7B	c.1337T>A (n.1337T>A) c.2431T>A (n.2431T>A) c.3066T>A (p.Ala1022=) c.3687T>A (p.Ala1229=) c.3354T>A (p.Ala1118=) c.3435T>A (p.Ala1145=) n.928T>A c.3453T>A (p.Ala1151=) n.3826T>A n.553T>A c.2622T>A (p.Ala874=) c.2397T>A (p.Ala799=) c.3492T>A (p.Ala1164=) c.1465T>A c.788T>A (n.788T>A) n.4431T>A n.3032T>A c.3543T>A (p.Ala1181=) c.3591T>A (p.Ala1197=) c.3651T>A (p.Ala1217=) c.3201T>A (p.Ala1067=) c.1503T>A (p.Ala501=) c.1320T>A (p.Ala440=) c.3552T>A (p.Ala1184=) c.3504T>A (p.Ala1168=) c.3273T>A (p.Ala1091=) c.3174T>A (p.Ala1058=) c.2355T>A (p.Ala785=) n.3906T>A
13	g.51939064G>A	CA388023622	ATP7B	c.1336C>T (n.1336C>T) c.2430C>T (n.2430C>T) c.3065C>T (p.Ala1022Val) c.3686C>T (p.Ala1229Val) c.3353C>T (p.Ala1118Val) c.3434C>T (p.Ala1145Val) n.927C>T c.3452C>T (p.Ala1151Val) n.3825C>T n.552C>T c.2621C>T (p.Ala874Val) c.2396C>T (p.Ala799Val) c.3491C>T (p.Ala1164Val) c.1464C>T c.787C>T (n.787C>T) n.4430C>T n.3031C>T c.3542C>T (p.Ala1181Val) c.3590C>T (p.Ala1197Val) c.3650C>T (p.Ala1217Val) c.3200C>T (p.Ala1067Val) c.1502C>T (p.Ala501Val) c.1319C>T (p.Ala440Val) c.3551C>T (p.Ala1184Val) c.3503C>T (p.Ala1168Val) c.3272C>T (p.Ala1091Val) c.3173C>T (p.Ala1058Val) c.2354C>T (p.Ala785Val) n.3905C>T	dbSNP gnomAD v2 gnomAD v4
13	g.51939064G>C	CA388023623	ATP7B	c.1336C>G (n.1336C>G) c.2430C>G (n.2430C>G) c.3065C>G (p.Ala1022Gly) c.3686C>G (p.Ala1229Gly) c.3353C>G (p.Ala1118Gly) c.3434C>G (p.Ala1145Gly) n.927C>G c.3452C>G (p.Ala1151Gly) n.3825C>G n.552C>G c.2621C>G (p.Ala874Gly) c.2396C>G (p.Ala799Gly) c.3491C>G (p.Ala1164Gly) c.1464C>G c.787C>G (n.787C>G) n.4430C>G n.3031C>G c.3542C>G (p.Ala1181Gly) c.3590C>G (p.Ala1197Gly) c.3650C>G (p.Ala1217Gly) c.3200C>G (p.Ala1067Gly) c.1502C>G (p.Ala501Gly) c.1319C>G (p.Ala440Gly) c.3551C>G (p.Ala1184Gly) c.3503C>G (p.Ala1168Gly) c.3272C>G (p.Ala1091Gly) c.3173C>G (p.Ala1058Gly) c.2354C>G (p.Ala785Gly) n.3905C>G
13	g.51939064G=	CA2091556660	ATP7B	c.1336C= (n.1336C=) c.2430C= (n.2430C=) c.3065C= (p.Ala1022=) c.3686C= (p.Ala1229=) c.3353C= (p.Ala1118=) c.3434C= (p.Ala1145=) n.927C= c.3452C= (p.Ala1151=) n.3825C= n.552C= c.2621C= (p.Ala874=) c.2396C= (p.Ala799=) c.3491C= (p.Ala1164=) c.1464C= c.787C= (n.787C=) n.4430C= n.3031C= c.3542C= (p.Ala1181=) c.3590C= (p.Ala1197=) c.3650C= (p.Ala1217=) c.3200C= (p.Ala1067=) c.1502C= (p.Ala501=) c.1319C= (p.Ala440=) c.3551C= (p.Ala1184=) c.3503C= (p.Ala1168=) c.3272C= (p.Ala1091=) c.3173C= (p.Ala1058=) c.2354C= (p.Ala785=) n.3905C=
13	g.51939064G>T	CA388023625	ATP7B	c.1336C>A (n.1336C>A) c.2430C>A (n.2430C>A) c.3065C>A (p.Ala1022Asp) c.3686C>A (p.Ala1229Asp) c.3353C>A (p.Ala1118Asp) c.3434C>A (p.Ala1145Asp) n.927C>A c.3452C>A (p.Ala1151Asp) n.3825C>A n.552C>A c.2621C>A (p.Ala874Asp) c.2396C>A (p.Ala799Asp) c.3491C>A (p.Ala1164Asp) c.1464C>A c.787C>A (n.787C>A) n.4430C>A n.3031C>A c.3542C>A (p.Ala1181Asp) c.3590C>A (p.Ala1197Asp) c.3650C>A (p.Ala1217Asp) c.3200C>A (p.Ala1067Asp) c.1502C>A (p.Ala501Asp) c.1319C>A (p.Ala440Asp) c.3551C>A (p.Ala1184Asp) c.3503C>A (p.Ala1168Asp) c.3272C>A (p.Ala1091Asp) c.3173C>A (p.Ala1058Asp) c.2354C>A (p.Ala785Asp) n.3905C>A
13	g.51939065C>A	CA388023634	ATP7B	c.1335G>T (n.1335G>T) c.2429G>T (n.2429G>T) c.3064G>T (p.Ala1022Ser) c.3685G>T (p.Ala1229Ser) c.3352G>T (p.Ala1118Ser) c.3433G>T (p.Ala1145Ser) n.926G>T c.3451G>T (p.Ala1151Ser) n.3824G>T n.551G>T c.2620G>T (p.Ala874Ser) c.2395G>T (p.Ala799Ser) c.3490G>T (p.Ala1164Ser) c.1463G>T c.786G>T (n.786G>T) n.4429G>T n.3030G>T c.3541G>T (p.Ala1181Ser) c.3589G>T (p.Ala1197Ser) c.3649G>T (p.Ala1217Ser) c.3199G>T (p.Ala1067Ser) c.1501G>T (p.Ala501Ser) c.1318G>T (p.Ala440Ser) c.3550G>T (p.Ala1184Ser) c.3502G>T (p.Ala1168Ser) c.3271G>T (p.Ala1091Ser) c.3172G>T (p.Ala1058Ser) c.2353G>T (p.Ala785Ser) n.3904G>T
13	g.51939065C>G	CA388023632	ATP7B	c.1335G>C (n.1335G>C) c.2429G>C (n.2429G>C) c.3064G>C (p.Ala1022Pro) c.3685G>C (p.Ala1229Pro) c.3352G>C (p.Ala1118Pro) c.3433G>C (p.Ala1145Pro) n.926G>C c.3451G>C (p.Ala1151Pro) n.3824G>C n.551G>C c.2620G>C (p.Ala874Pro) c.2395G>C (p.Ala799Pro) c.3490G>C (p.Ala1164Pro) c.1463G>C c.786G>C (n.786G>C) n.4429G>C n.3030G>C c.3541G>C (p.Ala1181Pro) c.3589G>C (p.Ala1197Pro) c.3649G>C (p.Ala1217Pro) c.3199G>C (p.Ala1067Pro) c.1501G>C (p.Ala501Pro) c.1318G>C (p.Ala440Pro) c.3550G>C (p.Ala1184Pro) c.3502G>C (p.Ala1168Pro) c.3271G>C (p.Ala1091Pro) c.3172G>C (p.Ala1058Pro) c.2353G>C (p.Ala785Pro) n.3904G>C
13	g.51939065C>T	CA388023628	ATP7B	c.1335G>A (n.1335G>A) c.2429G>A (n.2429G>A) c.3064G>A (p.Ala1022Thr) c.3685G>A (p.Ala1229Thr) c.3352G>A (p.Ala1118Thr) c.3433G>A (p.Ala1145Thr) n.926G>A c.3451G>A (p.Ala1151Thr) n.3824G>A n.551G>A c.2620G>A (p.Ala874Thr) c.2395G>A (p.Ala799Thr) c.3490G>A (p.Ala1164Thr) c.1463G>A c.786G>A (n.786G>A) n.4429G>A n.3030G>A c.3541G>A (p.Ala1181Thr) c.3589G>A (p.Ala1197Thr) c.3649G>A (p.Ala1217Thr) c.3199G>A (p.Ala1067Thr) c.1501G>A (p.Ala501Thr) c.1318G>A (p.Ala440Thr) c.3550G>A (p.Ala1184Thr) c.3502G>A (p.Ala1168Thr) c.3271G>A (p.Ala1091Thr) c.3172G>A (p.Ala1058Thr) c.2353G>A (p.Ala785Thr) n.3904G>A
13	g.51939066T>A	CA388023641	ATP7B	c.1334A>T (n.1334A>T) c.2428A>T (n.2428A>T) c.3063A>T (p.Arg1021Ser) c.3684A>T (p.Arg1228Ser) c.3351A>T (p.Arg1117Ser) c.3432A>T (p.Arg1144Ser) n.925A>T c.3450A>T (p.Arg1150Ser) n.3823A>T n.550A>T c.2619A>T (p.Arg873Ser) c.2394A>T (p.Arg798Ser) c.3489A>T (p.Arg1163Ser) c.1462A>T c.785A>T (n.785A>T) n.4428A>T n.3029A>T c.3540A>T (p.Arg1180Ser) c.3588A>T (p.Arg1196Ser) c.3648A>T (p.Arg1216Ser) c.3198A>T (p.Arg1066Ser) c.1500A>T (p.Arg500Ser) c.1317A>T (p.Arg439Ser) c.3549A>T (p.Arg1183Ser) c.3501A>T (p.Arg1167Ser) c.3270A>T (p.Arg1090Ser) c.3171A>T (p.Arg1057Ser) c.2352A>T (p.Arg784Ser) n.3903A>T
13	g.51939066T>C	CA483893619	ATP7B	c.1334A>G (n.1334A>G) c.2428A>G (n.2428A>G) c.3063A>G (p.Arg1021=) c.3684A>G (p.Arg1228=) c.3351A>G (p.Arg1117=) c.3432A>G (p.Arg1144=) n.925A>G c.3450A>G (p.Arg1150=) n.3823A>G n.550A>G c.2619A>G (p.Arg873=) c.2394A>G (p.Arg798=) c.3489A>G (p.Arg1163=) c.1462A>G c.785A>G (n.785A>G) n.4428A>G n.3029A>G c.3540A>G (p.Arg1180=) c.3588A>G (p.Arg1196=) c.3648A>G (p.Arg1216=) c.3198A>G (p.Arg1066=) c.1500A>G (p.Arg500=) c.1317A>G (p.Arg439=) c.3549A>G (p.Arg1183=) c.3501A>G (p.Arg1167=) c.3270A>G (p.Arg1090=) c.3171A>G (p.Arg1057=) c.2352A>G (p.Arg784=) n.3903A>G
13	g.51939066T>G	CA388023644	ATP7B	c.1334A>C (n.1334A>C) c.2428A>C (n.2428A>C) c.3063A>C (p.Arg1021Ser) c.3684A>C (p.Arg1228Ser) c.3351A>C (p.Arg1117Ser) c.3432A>C (p.Arg1144Ser) n.925A>C c.3450A>C (p.Arg1150Ser) n.3823A>C n.550A>C c.2619A>C (p.Arg873Ser) c.2394A>C (p.Arg798Ser) c.3489A>C (p.Arg1163Ser) c.1462A>C c.785A>C (n.785A>C) n.4428A>C n.3029A>C c.3540A>C (p.Arg1180Ser) c.3588A>C (p.Arg1196Ser) c.3648A>C (p.Arg1216Ser) c.3198A>C (p.Arg1066Ser) c.1500A>C (p.Arg500Ser) c.1317A>C (p.Arg439Ser) c.3549A>C (p.Arg1183Ser) c.3501A>C (p.Arg1167Ser) c.3270A>C (p.Arg1090Ser) c.3171A>C (p.Arg1057Ser) c.2352A>C (p.Arg784Ser) n.3903A>C
13	g.51939067C>A	CA388023646	ATP7B	c.1333G>T (n.1333G>T) c.2427G>T (n.2427G>T) c.3062G>T (p.Arg1021Ile) c.3683G>T (p.Arg1228Ile) c.3350G>T (p.Arg1117Ile) c.3431G>T (p.Arg1144Ile) n.924G>T c.3449G>T (p.Arg1150Ile) n.3822G>T n.549G>T c.2618G>T (p.Arg873Ile) c.2393G>T (p.Arg798Ile) c.3488G>T (p.Arg1163Ile) c.1461G>T c.784G>T (n.784G>T) n.4427G>T n.3028G>T c.3539G>T (p.Arg1180Ile) c.3587G>T (p.Arg1196Ile) c.3647G>T (p.Arg1216Ile) c.3197G>T (p.Arg1066Ile) c.1499G>T (p.Arg500Ile) c.1316G>T (p.Arg439Ile) c.3548G>T (p.Arg1183Ile) c.3500G>T (p.Arg1167Ile) c.3269G>T (p.Arg1090Ile) c.3170G>T (p.Arg1057Ile) c.2351G>T (p.Arg784Ile) n.3902G>T
13	g.51939067C>G	CA388023647	ATP7B	c.1333G>C (n.1333G>C) c.2427G>C (n.2427G>C) c.3062G>C (p.Arg1021Thr) c.3683G>C (p.Arg1228Thr) c.3350G>C (p.Arg1117Thr) c.3431G>C (p.Arg1144Thr) n.924G>C c.3449G>C (p.Arg1150Thr) n.3822G>C n.549G>C c.2618G>C (p.Arg873Thr) c.2393G>C (p.Arg798Thr) c.3488G>C (p.Arg1163Thr) c.1461G>C c.784G>C (n.784G>C) n.4427G>C n.3028G>C c.3539G>C (p.Arg1180Thr) c.3587G>C (p.Arg1196Thr) c.3647G>C (p.Arg1216Thr) c.3197G>C (p.Arg1066Thr) c.1499G>C (p.Arg500Thr) c.1316G>C (p.Arg439Thr) c.3548G>C (p.Arg1183Thr) c.3500G>C (p.Arg1167Thr) c.3269G>C (p.Arg1090Thr) c.3170G>C (p.Arg1057Thr) c.2351G>C (p.Arg784Thr) n.3902G>C	gnomAD v4
13	g.51939067C>T	CA388023651	ATP7B	c.1333G>A (n.1333G>A) c.2427G>A (n.2427G>A) c.3062G>A (p.Arg1021Lys) c.3683G>A (p.Arg1228Lys) c.3350G>A (p.Arg1117Lys) c.3431G>A (p.Arg1144Lys) n.924G>A c.3449G>A (p.Arg1150Lys) n.3822G>A n.549G>A c.2618G>A (p.Arg873Lys) c.2393G>A (p.Arg798Lys) c.3488G>A (p.Arg1163Lys) c.1461G>A c.784G>A (n.784G>A) n.4427G>A n.3028G>A c.3539G>A (p.Arg1180Lys) c.3587G>A (p.Arg1196Lys) c.3647G>A (p.Arg1216Lys) c.3197G>A (p.Arg1066Lys) c.1499G>A (p.Arg500Lys) c.1316G>A (p.Arg439Lys) c.3548G>A (p.Arg1183Lys) c.3500G>A (p.Arg1167Lys) c.3269G>A (p.Arg1090Lys) c.3170G>A (p.Arg1057Lys) c.2351G>A (p.Arg784Lys) n.3902G>A
13	g.51939068T>A	CA388023656	ATP7B	c.1332A>T (n.1332A>T) c.2426A>T (n.2426A>T) c.3061A>T (p.Arg1021Ter) c.3682A>T (p.Arg1228Ter) c.3349A>T (p.Arg1117Ter) c.3430A>T (p.Arg1144Ter) n.923A>T c.3448A>T (p.Arg1150Ter) n.3821A>T n.548A>T c.2617A>T (p.Arg873Ter) c.2392A>T (p.Arg798Ter) c.3487A>T (p.Arg1163Ter) c.1460A>T c.783A>T (n.783A>T) n.4426A>T n.3027A>T c.3538A>T (p.Arg1180Ter) c.3586A>T (p.Arg1196Ter) c.3646A>T (p.Arg1216Ter) c.3196A>T (p.Arg1066Ter) c.1498A>T (p.Arg500Ter) c.1315A>T (p.Arg439Ter) c.3547A>T (p.Arg1183Ter) c.3499A>T (p.Arg1167Ter) c.3268A>T (p.Arg1090Ter) c.3169A>T (p.Arg1057Ter) c.2350A>T (p.Arg784Ter) n.3901A>T
13	g.51939068T>C	CA388023660	ATP7B	c.1332A>G (n.1332A>G) c.2426A>G (n.2426A>G) c.3061A>G (p.Arg1021Gly) c.3682A>G (p.Arg1228Gly) c.3349A>G (p.Arg1117Gly) c.3430A>G (p.Arg1144Gly) n.923A>G c.3448A>G (p.Arg1150Gly) n.3821A>G n.548A>G c.2617A>G (p.Arg873Gly) c.2392A>G (p.Arg798Gly) c.3487A>G (p.Arg1163Gly) c.1460A>G c.783A>G (n.783A>G) n.4426A>G n.3027A>G c.3538A>G (p.Arg1180Gly) c.3586A>G (p.Arg1196Gly) c.3646A>G (p.Arg1216Gly) c.3196A>G (p.Arg1066Gly) c.1498A>G (p.Arg500Gly) c.1315A>G (p.Arg439Gly) c.3547A>G (p.Arg1183Gly) c.3499A>G (p.Arg1167Gly) c.3268A>G (p.Arg1090Gly) c.3169A>G (p.Arg1057Gly) c.2350A>G (p.Arg784Gly) n.3901A>G
13	g.51939068T>G	CA483893625	ATP7B	c.1332A>C (n.1332A>C) c.2426A>C (n.2426A>C) c.3061A>C (p.Arg1021=) c.3682A>C (p.Arg1228=) c.3349A>C (p.Arg1117=) c.3430A>C (p.Arg1144=) n.923A>C c.3448A>C (p.Arg1150=) n.3821A>C n.548A>C c.2617A>C (p.Arg873=) c.2392A>C (p.Arg798=) c.3487A>C (p.Arg1163=) c.1460A>C c.783A>C (n.783A>C) n.4426A>C n.3027A>C c.3538A>C (p.Arg1180=) c.3586A>C (p.Arg1196=) c.3646A>C (p.Arg1216=) c.3196A>C (p.Arg1066=) c.1498A>C (p.Arg500=) c.1315A>C (p.Arg439=) c.3547A>C (p.Arg1183=) c.3499A>C (p.Arg1167=) c.3268A>C (p.Arg1090=) c.3169A>C (p.Arg1057=) c.2350A>C (p.Arg784=) n.3901A>C
13	g.51939069G>A	CA483893630	ATP7B	c.1331C>T (n.1331C>T) c.2425C>T (n.2425C>T) c.3060C>T (p.Ala1020=) c.3681C>T (p.Ala1227=) c.3348C>T (p.Ala1116=) c.3429C>T (p.Ala1143=) n.922C>T c.3447C>T (p.Ala1149=) n.3820C>T n.547C>T c.2616C>T (p.Ala872=) c.2391C>T (p.Ala797=) c.3486C>T (p.Ala1162=) c.1459C>T c.782C>T (n.782C>T) n.4425C>T n.3026C>T c.3537C>T (p.Ala1179=) c.3585C>T (p.Ala1195=) c.3645C>T (p.Ala1215=) c.3195C>T (p.Ala1065=) c.1497C>T (p.Ala499=) c.1314C>T (p.Ala438=) c.3546C>T (p.Ala1182=) c.3498C>T (p.Ala1166=) c.3267C>T (p.Ala1089=) c.3168C>T (p.Ala1056=) c.2349C>T (p.Ala783=) n.3900C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.51939069G>C	CA483893631	ATP7B	c.1331C>G (n.1331C>G) c.2425C>G (n.2425C>G) c.3060C>G (p.Ala1020=) c.3681C>G (p.Ala1227=) c.3348C>G (p.Ala1116=) c.3429C>G (p.Ala1143=) n.922C>G c.3447C>G (p.Ala1149=) n.3820C>G n.547C>G c.2616C>G (p.Ala872=) c.2391C>G (p.Ala797=) c.3486C>G (p.Ala1162=) c.1459C>G c.782C>G (n.782C>G) n.4425C>G n.3026C>G c.3537C>G (p.Ala1179=) c.3585C>G (p.Ala1195=) c.3645C>G (p.Ala1215=) c.3195C>G (p.Ala1065=) c.1497C>G (p.Ala499=) c.1314C>G (p.Ala438=) c.3546C>G (p.Ala1182=) c.3498C>G (p.Ala1166=) c.3267C>G (p.Ala1089=) c.3168C>G (p.Ala1056=) c.2349C>G (p.Ala783=) n.3900C>G
13	g.51939069G=	CA2091556666	ATP7B	c.1331C= (n.1331C=) c.2425C= (n.2425C=) c.3060C= (p.Ala1020=) c.3681C= (p.Ala1227=) c.3348C= (p.Ala1116=) c.3429C= (p.Ala1143=) n.922C= c.3447C= (p.Ala1149=) n.3820C= n.547C= c.2616C= (p.Ala872=) c.2391C= (p.Ala797=) c.3486C= (p.Ala1162=) c.1459C= c.782C= (n.782C=) n.4425C= n.3026C= c.3537C= (p.Ala1179=) c.3585C= (p.Ala1195=) c.3645C= (p.Ala1215=) c.3195C= (p.Ala1065=) c.1497C= (p.Ala499=) c.1314C= (p.Ala438=) c.3546C= (p.Ala1182=) c.3498C= (p.Ala1166=) c.3267C= (p.Ala1089=) c.3168C= (p.Ala1056=) c.2349C= (p.Ala783=) n.3900C=
13	g.51939069G>T	CA483893633	ATP7B	c.1331C>A (n.1331C>A) c.2425C>A (n.2425C>A) c.3060C>A (p.Ala1020=) c.3681C>A (p.Ala1227=) c.3348C>A (p.Ala1116=) c.3429C>A (p.Ala1143=) n.922C>A c.3447C>A (p.Ala1149=) n.3820C>A n.547C>A c.2616C>A (p.Ala872=) c.2391C>A (p.Ala797=) c.3486C>A (p.Ala1162=) c.1459C>A c.782C>A (n.782C>A) n.4425C>A n.3026C>A c.3537C>A (p.Ala1179=) c.3585C>A (p.Ala1195=) c.3645C>A (p.Ala1215=) c.3195C>A (p.Ala1065=) c.1497C>A (p.Ala499=) c.1314C>A (p.Ala438=) c.3546C>A (p.Ala1182=) c.3498C>A (p.Ala1166=) c.3267C>A (p.Ala1089=) c.3168C>A (p.Ala1056=) c.2349C>A (p.Ala783=) n.3900C>A
13	g.51939070G>A	CA388023671	ATP7B	c.1330C>T (n.1330C>T) c.2424C>T (n.2424C>T) c.3059C>T (p.Ala1020Val) c.3680C>T (p.Ala1227Val) c.3347C>T (p.Ala1116Val) c.3428C>T (p.Ala1143Val) n.921C>T c.3446C>T (p.Ala1149Val) n.3819C>T n.546C>T c.2615C>T (p.Ala872Val) c.2390C>T (p.Ala797Val) c.3485C>T (p.Ala1162Val) c.1458C>T c.781C>T (n.781C>T) n.4424C>T n.3025C>T c.3536C>T (p.Ala1179Val) c.3584C>T (p.Ala1195Val) c.3644C>T (p.Ala1215Val) c.3194C>T (p.Ala1065Val) c.1496C>T (p.Ala499Val) c.1313C>T (p.Ala438Val) c.3545C>T (p.Ala1182Val) c.3497C>T (p.Ala1166Val) c.3266C>T (p.Ala1089Val) c.3167C>T (p.Ala1056Val) c.2348C>T (p.Ala783Val) n.3899C>T
13	g.51939070G>C	CA388023674	ATP7B	c.1330C>G (n.1330C>G) c.2424C>G (n.2424C>G) c.3059C>G (p.Ala1020Gly) c.3680C>G (p.Ala1227Gly) c.3347C>G (p.Ala1116Gly) c.3428C>G (p.Ala1143Gly) n.921C>G c.3446C>G (p.Ala1149Gly) n.3819C>G n.546C>G c.2615C>G (p.Ala872Gly) c.2390C>G (p.Ala797Gly) c.3485C>G (p.Ala1162Gly) c.1458C>G c.781C>G (n.781C>G) n.4424C>G n.3025C>G c.3536C>G (p.Ala1179Gly) c.3584C>G (p.Ala1195Gly) c.3644C>G (p.Ala1215Gly) c.3194C>G (p.Ala1065Gly) c.1496C>G (p.Ala499Gly) c.1313C>G (p.Ala438Gly) c.3545C>G (p.Ala1182Gly) c.3497C>G (p.Ala1166Gly) c.3266C>G (p.Ala1089Gly) c.3167C>G (p.Ala1056Gly) c.2348C>G (p.Ala783Gly) n.3899C>G
13	g.51939070G=	CA2091556668	ATP7B	c.1330C= (n.1330C=) c.2424C= (n.2424C=) c.3059C= (p.Ala1020=) c.3680C= (p.Ala1227=) c.3347C= (p.Ala1116=) c.3428C= (p.Ala1143=) n.921C= c.3446C= (p.Ala1149=) n.3819C= n.546C= c.2615C= (p.Ala872=) c.2390C= (p.Ala797=) c.3485C= (p.Ala1162=) c.1458C= c.781C= (n.781C=) n.4424C= n.3025C= c.3536C= (p.Ala1179=) c.3584C= (p.Ala1195=) c.3644C= (p.Ala1215=) c.3194C= (p.Ala1065=) c.1496C= (p.Ala499=) c.1313C= (p.Ala438=) c.3545C= (p.Ala1182=) c.3497C= (p.Ala1166=) c.3266C= (p.Ala1089=) c.3167C= (p.Ala1056=) c.2348C= (p.Ala783=) n.3899C=
13	g.51939070G>T	CA388023675	ATP7B	c.1330C>A (n.1330C>A) c.2424C>A (n.2424C>A) c.3059C>A (p.Ala1020Asp) c.3680C>A (p.Ala1227Asp) c.3347C>A (p.Ala1116Asp) c.3428C>A (p.Ala1143Asp) n.921C>A c.3446C>A (p.Ala1149Asp) n.3819C>A n.546C>A c.2615C>A (p.Ala872Asp) c.2390C>A (p.Ala797Asp) c.3485C>A (p.Ala1162Asp) c.1458C>A c.781C>A (n.781C>A) n.4424C>A n.3025C>A c.3536C>A (p.Ala1179Asp) c.3584C>A (p.Ala1195Asp) c.3644C>A (p.Ala1215Asp) c.3194C>A (p.Ala1065Asp) c.1496C>A (p.Ala499Asp) c.1313C>A (p.Ala438Asp) c.3545C>A (p.Ala1182Asp) c.3497C>A (p.Ala1166Asp) c.3266C>A (p.Ala1089Asp) c.3167C>A (p.Ala1056Asp) c.2348C>A (p.Ala783Asp) n.3899C>A	ClinVar dbSNP
13	g.51939071C>A	CA388023676	ATP7B	c.1329G>T (n.1329G>T) c.2423G>T (n.2423G>T) c.3058G>T (p.Ala1020Ser) c.3679G>T (p.Ala1227Ser) c.3346G>T (p.Ala1116Ser) c.3427G>T (p.Ala1143Ser) n.920G>T c.3445G>T (p.Ala1149Ser) n.3818G>T n.545G>T c.2614G>T (p.Ala872Ser) c.2389G>T (p.Ala797Ser) c.3484G>T (p.Ala1162Ser) c.1457G>T c.780G>T (n.780G>T) n.4423G>T n.3024G>T c.3535G>T (p.Ala1179Ser) c.3583G>T (p.Ala1195Ser) c.3643G>T (p.Ala1215Ser) c.3193G>T (p.Ala1065Ser) c.1495G>T (p.Ala499Ser) c.1312G>T (p.Ala438Ser) c.3544G>T (p.Ala1182Ser) c.3496G>T (p.Ala1166Ser) c.3265G>T (p.Ala1089Ser) c.3166G>T (p.Ala1056Ser) c.2347G>T (p.Ala783Ser) n.3898G>T
13	g.51939071C=	CA2091556671	ATP7B	c.1329G= (n.1329G=) c.2423G= (n.2423G=) c.3058G= (p.Ala1020=) c.3679G= (p.Ala1227=) c.3346G= (p.Ala1116=) c.3427G= (p.Ala1143=) n.920G= c.3445G= (p.Ala1149=) n.3818G= n.545G= c.2614G= (p.Ala872=) c.2389G= (p.Ala797=) c.3484G= (p.Ala1162=) c.1457G= c.780G= (n.780G=) n.4423G= n.3024G= c.3535G= (p.Ala1179=) c.3583G= (p.Ala1195=) c.3643G= (p.Ala1215=) c.3193G= (p.Ala1065=) c.1495G= (p.Ala499=) c.1312G= (p.Ala438=) c.3544G= (p.Ala1182=) c.3496G= (p.Ala1166=) c.3265G= (p.Ala1089=) c.3166G= (p.Ala1056=) c.2347G= (p.Ala783=) n.3898G=
13	g.51939071C>G	CA388023677	ATP7B	c.1329G>C (n.1329G>C) c.2423G>C (n.2423G>C) c.3058G>C (p.Ala1020Pro) c.3679G>C (p.Ala1227Pro) c.3346G>C (p.Ala1116Pro) c.3427G>C (p.Ala1143Pro) n.920G>C c.3445G>C (p.Ala1149Pro) n.3818G>C n.545G>C c.2614G>C (p.Ala872Pro) c.2389G>C (p.Ala797Pro) c.3484G>C (p.Ala1162Pro) c.1457G>C c.780G>C (n.780G>C) n.4423G>C n.3024G>C c.3535G>C (p.Ala1179Pro) c.3583G>C (p.Ala1195Pro) c.3643G>C (p.Ala1215Pro) c.3193G>C (p.Ala1065Pro) c.1495G>C (p.Ala499Pro) c.1312G>C (p.Ala438Pro) c.3544G>C (p.Ala1182Pro) c.3496G>C (p.Ala1166Pro) c.3265G>C (p.Ala1089Pro) c.3166G>C (p.Ala1056Pro) c.2347G>C (p.Ala783Pro) n.3898G>C
13	g.51939071C>T	CA388023679	ATP7B	c.1329G>A (n.1329G>A) c.2423G>A (n.2423G>A) c.3058G>A (p.Ala1020Thr) c.3679G>A (p.Ala1227Thr) c.3346G>A (p.Ala1116Thr) c.3427G>A (p.Ala1143Thr) n.920G>A c.3445G>A (p.Ala1149Thr) n.3818G>A n.545G>A c.2614G>A (p.Ala872Thr) c.2389G>A (p.Ala797Thr) c.3484G>A (p.Ala1162Thr) c.1457G>A c.780G>A (n.780G>A) n.4423G>A n.3024G>A c.3535G>A (p.Ala1179Thr) c.3583G>A (p.Ala1195Thr) c.3643G>A (p.Ala1215Thr) c.3193G>A (p.Ala1065Thr) c.1495G>A (p.Ala499Thr) c.1312G>A (p.Ala438Thr) c.3544G>A (p.Ala1182Thr) c.3496G>A (p.Ala1166Thr) c.3265G>A (p.Ala1089Thr) c.3166G>A (p.Ala1056Thr) c.2347G>A (p.Ala783Thr) n.3898G>A	ClinVar dbSNP gnomAD v4
13	g.51939072del	CA2830782745	ATP7B	c.1328del (n.1328del) c.2422del (n.2422del) c.3057del (p.Ala1020ProfsTer?) c.3678del (p.Ala1227ProfsTer?) c.3345del (p.Ala1116ProfsTer?) c.3426del (p.Ala1143ProfsTer?) n.919del c.3444del (p.Ala1149ProfsTer?) n.3817del n.544del c.2613del (p.Ala872ProfsTer?) c.2388del (p.Ala797ProfsTer?) c.3483del (p.Ala1162ProfsTer?) c.1456del c.779del (n.779del) n.4422del n.3023del c.3534del (p.Ala1179ProfsTer?) c.3582del (p.Ala1195ProfsTer?) c.3642del (p.Ala1215ProfsTer?) c.3192del (p.Ala1065ProfsTer?) c.1494del (p.Ala499ProfsTer?) c.1311del (p.Ala438ProfsTer?) c.3543del (p.Ala1182ProfsTer?) c.3495del (p.Ala1166ProfsTer?) c.3264del (p.Ala1089ProfsTer?) c.3165del (p.Ala1056ProfsTer?) c.2346del (p.Ala783ProfsTer?) n.3897del
13	g.51939072T>A	CA483893639	ATP7B	c.1328A>T (n.1328A>T) c.2422A>T (n.2422A>T) c.3057A>T (p.Thr1019=) c.3678A>T (p.Thr1226=) c.3345A>T (p.Thr1115=) c.3426A>T (p.Thr1142=) n.919A>T c.3444A>T (p.Thr1148=) n.3817A>T n.544A>T c.2613A>T (p.Thr871=) c.2388A>T (p.Thr796=) c.3483A>T (p.Thr1161=) c.1456A>T c.779A>T (n.779A>T) n.4422A>T n.3023A>T c.3534A>T (p.Thr1178=) c.3582A>T (p.Thr1194=) c.3642A>T (p.Thr1214=) c.3192A>T (p.Thr1064=) c.1494A>T (p.Thr498=) c.1311A>T (p.Thr437=) c.3543A>T (p.Thr1181=) c.3495A>T (p.Thr1165=) c.3264A>T (p.Thr1088=) c.3165A>T (p.Thr1055=) c.2346A>T (p.Thr782=) n.3897A>T
13	g.51939072T>C	CA483893641	ATP7B	c.1328A>G (n.1328A>G) c.2422A>G (n.2422A>G) c.3057A>G (p.Thr1019=) c.3678A>G (p.Thr1226=) c.3345A>G (p.Thr1115=) c.3426A>G (p.Thr1142=) n.919A>G c.3444A>G (p.Thr1148=) n.3817A>G n.544A>G c.2613A>G (p.Thr871=) c.2388A>G (p.Thr796=) c.3483A>G (p.Thr1161=) c.1456A>G c.779A>G (n.779A>G) n.4422A>G n.3023A>G c.3534A>G (p.Thr1178=) c.3582A>G (p.Thr1194=) c.3642A>G (p.Thr1214=) c.3192A>G (p.Thr1064=) c.1494A>G (p.Thr498=) c.1311A>G (p.Thr437=) c.3543A>G (p.Thr1181=) c.3495A>G (p.Thr1165=) c.3264A>G (p.Thr1088=) c.3165A>G (p.Thr1055=) c.2346A>G (p.Thr782=) n.3897A>G	gnomAD v4
13	g.51939072T>G	CA483893642	ATP7B	c.1328A>C (n.1328A>C) c.2422A>C (n.2422A>C) c.3057A>C (p.Thr1019=) c.3678A>C (p.Thr1226=) c.3345A>C (p.Thr1115=) c.3426A>C (p.Thr1142=) n.919A>C c.3444A>C (p.Thr1148=) n.3817A>C n.544A>C c.2613A>C (p.Thr871=) c.2388A>C (p.Thr796=) c.3483A>C (p.Thr1161=) c.1456A>C c.779A>C (n.779A>C) n.4422A>C n.3023A>C c.3534A>C (p.Thr1178=) c.3582A>C (p.Thr1194=) c.3642A>C (p.Thr1214=) c.3192A>C (p.Thr1064=) c.1494A>C (p.Thr498=) c.1311A>C (p.Thr437=) c.3543A>C (p.Thr1181=) c.3495A>C (p.Thr1165=) c.3264A>C (p.Thr1088=) c.3165A>C (p.Thr1055=) c.2346A>C (p.Thr782=) n.3897A>C	ClinVar gnomAD v4
13	g.51939073G>A	CA388023684	ATP7B	c.1327C>T (n.1327C>T) c.2421C>T (n.2421C>T) c.3056C>T (p.Thr1019Ile) c.3677C>T (p.Thr1226Ile) c.3344C>T (p.Thr1115Ile) c.3425C>T (p.Thr1142Ile) n.918C>T c.3443C>T (p.Thr1148Ile) n.3816C>T n.543C>T c.2612C>T (p.Thr871Ile) c.2387C>T (p.Thr796Ile) c.3482C>T (p.Thr1161Ile) c.1455C>T c.778C>T (n.778C>T) n.4421C>T n.3022C>T c.3533C>T (p.Thr1178Ile) c.3581C>T (p.Thr1194Ile) c.3641C>T (p.Thr1214Ile) c.3191C>T (p.Thr1064Ile) c.1493C>T (p.Thr498Ile) c.1310C>T (p.Thr437Ile) c.3542C>T (p.Thr1181Ile) c.3494C>T (p.Thr1165Ile) c.3263C>T (p.Thr1088Ile) c.3164C>T (p.Thr1055Ile) c.2345C>T (p.Thr782Ile) n.3896C>T
13	g.51939073G>C	CA388023680	ATP7B	c.1327C>G (n.1327C>G) c.2421C>G (n.2421C>G) c.3056C>G (p.Thr1019Arg) c.3677C>G (p.Thr1226Arg) c.3344C>G (p.Thr1115Arg) c.3425C>G (p.Thr1142Arg) n.918C>G c.3443C>G (p.Thr1148Arg) n.3816C>G n.543C>G c.2612C>G (p.Thr871Arg) c.2387C>G (p.Thr796Arg) c.3482C>G (p.Thr1161Arg) c.1455C>G c.778C>G (n.778C>G) n.4421C>G n.3022C>G c.3533C>G (p.Thr1178Arg) c.3581C>G (p.Thr1194Arg) c.3641C>G (p.Thr1214Arg) c.3191C>G (p.Thr1064Arg) c.1493C>G (p.Thr498Arg) c.1310C>G (p.Thr437Arg) c.3542C>G (p.Thr1181Arg) c.3494C>G (p.Thr1165Arg) c.3263C>G (p.Thr1088Arg) c.3164C>G (p.Thr1055Arg) c.2345C>G (p.Thr782Arg) n.3896C>G
13	g.51939073G>T	CA388023683	ATP7B	c.1327C>A (n.1327C>A) c.2421C>A (n.2421C>A) c.3056C>A (p.Thr1019Lys) c.3677C>A (p.Thr1226Lys) c.3344C>A (p.Thr1115Lys) c.3425C>A (p.Thr1142Lys) n.918C>A c.3443C>A (p.Thr1148Lys) n.3816C>A n.543C>A c.2612C>A (p.Thr871Lys) c.2387C>A (p.Thr796Lys) c.3482C>A (p.Thr1161Lys) c.1455C>A c.778C>A (n.778C>A) n.4421C>A n.3022C>A c.3533C>A (p.Thr1178Lys) c.3581C>A (p.Thr1194Lys) c.3641C>A (p.Thr1214Lys) c.3191C>A (p.Thr1064Lys) c.1493C>A (p.Thr498Lys) c.1310C>A (p.Thr437Lys) c.3542C>A (p.Thr1181Lys) c.3494C>A (p.Thr1165Lys) c.3263C>A (p.Thr1088Lys) c.3164C>A (p.Thr1055Lys) c.2345C>A (p.Thr782Lys) n.3896C>A
13	g.51939073_51939076delinsGTCT	CA2091556676	ATP7B	c.1324_1327delinsAGAC (n.1324_1327delinsAGAC) c.2418_2421delinsAGAC (n.2418_2421delinsAGAC) c.3053_3056delinsAGAC (p.Lys1018=) c.3674_3677delinsAGAC (p.Lys1225=) c.3341_3344delinsAGAC (p.Lys1114=) c.3422_3425delinsAGAC (p.Lys1141=) n.915_918delinsAGAC c.3440_3443delinsAGAC (p.Lys1147=) n.3813_3816delinsAGAC n.540_543delinsAGAC c.2609_2612delinsAGAC (p.Lys870=) c.2384_2387delinsAGAC (p.Lys795=) c.3479_3482delinsAGAC (p.Lys1160=) c.1452_1455delinsAGAC c.775_778delinsAGAC (n.775_778delinsAGAC) n.4418_4421delinsAGAC n.3019_3022delinsAGAC c.3530_3533delinsAGAC (p.Lys1177=) c.3578_3581delinsAGAC (p.Lys1193=) c.3638_3641delinsAGAC (p.Lys1213=) c.3188_3191delinsAGAC (p.Lys1063=) c.1490_1493delinsAGAC (p.Lys497=) c.1307_1310delinsAGAC (p.Lys436=) c.3539_3542delinsAGAC (p.Lys1180=) c.3491_3494delinsAGAC (p.Lys1164=) c.3260_3263delinsAGAC (p.Lys1087=) c.3161_3164delinsAGAC (p.Lys1054=) c.2342_2345delinsAGAC (p.Lys781=) n.3893_3896delinsAGAC
13	g.51939074T>A	CA388023687	ATP7B	c.1326A>T (n.1326A>T) c.2420A>T (n.2420A>T) c.3055A>T (p.Thr1019Ser) c.3676A>T (p.Thr1226Ser) c.3343A>T (p.Thr1115Ser) c.3424A>T (p.Thr1142Ser) n.917A>T c.3442A>T (p.Thr1148Ser) n.3815A>T n.542A>T c.2611A>T (p.Thr871Ser) c.2386A>T (p.Thr796Ser) c.3481A>T (p.Thr1161Ser) c.1454A>T c.777A>T (n.777A>T) n.4420A>T n.3021A>T c.3532A>T (p.Thr1178Ser) c.3580A>T (p.Thr1194Ser) c.3640A>T (p.Thr1214Ser) c.3190A>T (p.Thr1064Ser) c.1492A>T (p.Thr498Ser) c.1309A>T (p.Thr437Ser) c.3541A>T (p.Thr1181Ser) c.3493A>T (p.Thr1165Ser) c.3262A>T (p.Thr1088Ser) c.3163A>T (p.Thr1055Ser) c.2344A>T (p.Thr782Ser) n.3895A>T
13	g.51939074T>C	CA388023689	ATP7B	c.1326A>G (n.1326A>G) c.2420A>G (n.2420A>G) c.3055A>G (p.Thr1019Ala) c.3676A>G (p.Thr1226Ala) c.3343A>G (p.Thr1115Ala) c.3424A>G (p.Thr1142Ala) n.917A>G c.3442A>G (p.Thr1148Ala) n.3815A>G n.542A>G c.2611A>G (p.Thr871Ala) c.2386A>G (p.Thr796Ala) c.3481A>G (p.Thr1161Ala) c.1454A>G c.777A>G (n.777A>G) n.4420A>G n.3021A>G c.3532A>G (p.Thr1178Ala) c.3580A>G (p.Thr1194Ala) c.3640A>G (p.Thr1214Ala) c.3190A>G (p.Thr1064Ala) c.1492A>G (p.Thr498Ala) c.1309A>G (p.Thr437Ala) c.3541A>G (p.Thr1181Ala) c.3493A>G (p.Thr1165Ala) c.3262A>G (p.Thr1088Ala) c.3163A>G (p.Thr1055Ala) c.2344A>G (p.Thr782Ala) n.3895A>G
13	g.51939074T>G	CA388023702	ATP7B	c.1326A>C (n.1326A>C) c.2420A>C (n.2420A>C) c.3055A>C (p.Thr1019Pro) c.3676A>C (p.Thr1226Pro) c.3343A>C (p.Thr1115Pro) c.3424A>C (p.Thr1142Pro) n.917A>C c.3442A>C (p.Thr1148Pro) n.3815A>C n.542A>C c.2611A>C (p.Thr871Pro) c.2386A>C (p.Thr796Pro) c.3481A>C (p.Thr1161Pro) c.1454A>C c.777A>C (n.777A>C) n.4420A>C n.3021A>C c.3532A>C (p.Thr1178Pro) c.3580A>C (p.Thr1194Pro) c.3640A>C (p.Thr1214Pro) c.3190A>C (p.Thr1064Pro) c.1492A>C (p.Thr498Pro) c.1309A>C (p.Thr437Pro) c.3541A>C (p.Thr1181Pro) c.3493A>C (p.Thr1165Pro) c.3262A>C (p.Thr1088Pro) c.3163A>C (p.Thr1055Pro) c.2344A>C (p.Thr782Pro) n.3895A>C
13	g.51939076_51939078del	CA609963163	ATP7B	c.1324_1326del (n.1324_1326del) c.2418_2420del (n.2418_2420del) c.3053_3055del (p.Lys1018del) c.3674_3676del (p.Lys1225del) c.3341_3343del (p.Lys1114del) c.3422_3424del (p.Lys1141del) n.915_917del c.3440_3442del (p.Lys1147del) n.3813_3815del n.540_542del c.2609_2611del (p.Lys870del) c.2384_2386del (p.Lys795del) c.3479_3481del (p.Lys1160del) c.1452_1454del c.775_777del (n.775_777del) n.4418_4420del n.3019_3021del c.3530_3532del (p.Lys1177del) c.3578_3580del (p.Lys1193del) c.3638_3640del (p.Lys1213del) c.3188_3190del (p.Lys1063del) c.1490_1492del (p.Lys497del) c.1307_1309del (p.Lys436del) c.3539_3541del (p.Lys1180del) c.3491_3493del (p.Lys1164del) c.3260_3262del (p.Lys1087del) c.3161_3163del (p.Lys1054del) c.2342_2344del (p.Lys781del) n.3893_3895del	dbSNP gnomAD v2 gnomAD v4
13	g.51939075C>A	CA388023704	ATP7B	c.1325G>T (n.1325G>T) c.2419G>T (n.2419G>T) c.3054G>T (p.Lys1018Asn) c.3675G>T (p.Lys1225Asn) c.3342G>T (p.Lys1114Asn) c.3423G>T (p.Lys1141Asn) n.916G>T c.3441G>T (p.Lys1147Asn) n.3814G>T n.541G>T c.2610G>T (p.Lys870Asn) c.2385G>T (p.Lys795Asn) c.3480G>T (p.Lys1160Asn) c.1453G>T c.776G>T (n.776G>T) n.4419G>T n.3020G>T c.3531G>T (p.Lys1177Asn) c.3579G>T (p.Lys1193Asn) c.3639G>T (p.Lys1213Asn) c.3189G>T (p.Lys1063Asn) c.1491G>T (p.Lys497Asn) c.1308G>T (p.Lys436Asn) c.3540G>T (p.Lys1180Asn) c.3492G>T (p.Lys1164Asn) c.3261G>T (p.Lys1087Asn) c.3162G>T (p.Lys1054Asn) c.2343G>T (p.Lys781Asn) n.3894G>T
13	g.51939075C>G	CA388023716	ATP7B	c.1325G>C (n.1325G>C) c.2419G>C (n.2419G>C) c.3054G>C (p.Lys1018Asn) c.3675G>C (p.Lys1225Asn) c.3342G>C (p.Lys1114Asn) c.3423G>C (p.Lys1141Asn) n.916G>C c.3441G>C (p.Lys1147Asn) n.3814G>C n.541G>C c.2610G>C (p.Lys870Asn) c.2385G>C (p.Lys795Asn) c.3480G>C (p.Lys1160Asn) c.1453G>C c.776G>C (n.776G>C) n.4419G>C n.3020G>C c.3531G>C (p.Lys1177Asn) c.3579G>C (p.Lys1193Asn) c.3639G>C (p.Lys1213Asn) c.3189G>C (p.Lys1063Asn) c.1491G>C (p.Lys497Asn) c.1308G>C (p.Lys436Asn) c.3540G>C (p.Lys1180Asn) c.3492G>C (p.Lys1164Asn) c.3261G>C (p.Lys1087Asn) c.3162G>C (p.Lys1054Asn) c.2343G>C (p.Lys781Asn) n.3894G>C
13	g.51939075C>T	CA483893653	ATP7B	c.1325G>A (n.1325G>A) c.2419G>A (n.2419G>A) c.3054G>A (p.Lys1018=) c.3675G>A (p.Lys1225=) c.3342G>A (p.Lys1114=) c.3423G>A (p.Lys1141=) n.916G>A c.3441G>A (p.Lys1147=) n.3814G>A n.541G>A c.2610G>A (p.Lys870=) c.2385G>A (p.Lys795=) c.3480G>A (p.Lys1160=) c.1453G>A c.776G>A (n.776G>A) n.4419G>A n.3020G>A c.3531G>A (p.Lys1177=) c.3579G>A (p.Lys1193=) c.3639G>A (p.Lys1213=) c.3189G>A (p.Lys1063=) c.1491G>A (p.Lys497=) c.1308G>A (p.Lys436=) c.3540G>A (p.Lys1180=) c.3492G>A (p.Lys1164=) c.3261G>A (p.Lys1087=) c.3162G>A (p.Lys1054=) c.2343G>A (p.Lys781=) n.3894G>A	COSMIC
13	g.51939075_51939082delinsCTTCCGGT	CA2091556684	ATP7B	c.1318_1325delinsACCGGAAG (n.1318_1325delinsACCGGAAG) c.2412_2419delinsACCGGAAG (n.2412_2419delinsACCGGAAG) c.3047_3054delinsACCGGAAG (p.Asn1016=) c.3668_3675delinsACCGGAAG (p.Asn1223=) c.3335_3342delinsACCGGAAG (p.Asn1112=) c.3416_3423delinsACCGGAAG (p.Asn1139=) n.909_916delinsACCGGAAG c.3434_3441delinsACCGGAAG (p.Asn1145=) n.3807_3814delinsACCGGAAG n.534_541delinsACCGGAAG c.2603_2610delinsACCGGAAG (p.Asn868=) c.2378_2385delinsACCGGAAG (p.Asn793=) c.3473_3480delinsACCGGAAG (p.Asn1158=) c.1446_1453delinsACCGGAAG c.769_776delinsACCGGAAG (n.769_776delinsACCGGAAG) n.4412_4419delinsACCGGAAG n.3013_3020delinsACCGGAAG c.3524_3531delinsACCGGAAG (p.Asn1175=) c.3572_3579delinsACCGGAAG (p.Asn1191=) c.3632_3639delinsACCGGAAG (p.Asn1211=) c.3182_3189delinsACCGGAAG (p.Asn1061=) c.1484_1491delinsACCGGAAG (p.Asn495=) c.1301_1308delinsACCGGAAG (p.Asn434=) c.3533_3540delinsACCGGAAG (p.Asn1178=) c.3485_3492delinsACCGGAAG (p.Asn1162=) c.3254_3261delinsACCGGAAG (p.Asn1085=) c.3155_3162delinsACCGGAAG (p.Asn1052=) c.2336_2343delinsACCGGAAG (p.Asn779=) n.3887_3894delinsACCGGAAG
13	g.51939076T>A	CA388023721	ATP7B	c.1324A>T (n.1324A>T) c.2418A>T (n.2418A>T) c.3053A>T (p.Lys1018Met) c.3674A>T (p.Lys1225Met) c.3341A>T (p.Lys1114Met) c.3422A>T (p.Lys1141Met) n.915A>T c.3440A>T (p.Lys1147Met) n.3813A>T n.540A>T c.2609A>T (p.Lys870Met) c.2384A>T (p.Lys795Met) c.3479A>T (p.Lys1160Met) c.1452A>T c.775A>T (n.775A>T) n.4418A>T n.3019A>T c.3530A>T (p.Lys1177Met) c.3578A>T (p.Lys1193Met) c.3638A>T (p.Lys1213Met) c.3188A>T (p.Lys1063Met) c.1490A>T (p.Lys497Met) c.1307A>T (p.Lys436Met) c.3539A>T (p.Lys1180Met) c.3491A>T (p.Lys1164Met) c.3260A>T (p.Lys1087Met) c.3161A>T (p.Lys1054Met) c.2342A>T (p.Lys781Met) n.3893A>T
13	g.51939076T>C	CA388023735	ATP7B	c.1324A>G (n.1324A>G) c.2418A>G (n.2418A>G) c.3053A>G (p.Lys1018Arg) c.3674A>G (p.Lys1225Arg) c.3341A>G (p.Lys1114Arg) c.3422A>G (p.Lys1141Arg) n.915A>G c.3440A>G (p.Lys1147Arg) n.3813A>G n.540A>G c.2609A>G (p.Lys870Arg) c.2384A>G (p.Lys795Arg) c.3479A>G (p.Lys1160Arg) c.1452A>G c.775A>G (n.775A>G) n.4418A>G n.3019A>G c.3530A>G (p.Lys1177Arg) c.3578A>G (p.Lys1193Arg) c.3638A>G (p.Lys1213Arg) c.3188A>G (p.Lys1063Arg) c.1490A>G (p.Lys497Arg) c.1307A>G (p.Lys436Arg) c.3539A>G (p.Lys1180Arg) c.3491A>G (p.Lys1164Arg) c.3260A>G (p.Lys1087Arg) c.3161A>G (p.Lys1054Arg) c.2342A>G (p.Lys781Arg) n.3893A>G
13	g.51939076T>G	CA388023738	ATP7B	c.1324A>C (n.1324A>C) c.2418A>C (n.2418A>C) c.3053A>C (p.Lys1018Thr) c.3674A>C (p.Lys1225Thr) c.3341A>C (p.Lys1114Thr) c.3422A>C (p.Lys1141Thr) n.915A>C c.3440A>C (p.Lys1147Thr) n.3813A>C n.540A>C c.2609A>C (p.Lys870Thr) c.2384A>C (p.Lys795Thr) c.3479A>C (p.Lys1160Thr) c.1452A>C c.775A>C (n.775A>C) n.4418A>C n.3019A>C c.3530A>C (p.Lys1177Thr) c.3578A>C (p.Lys1193Thr) c.3638A>C (p.Lys1213Thr) c.3188A>C (p.Lys1063Thr) c.1490A>C (p.Lys497Thr) c.1307A>C (p.Lys436Thr) c.3539A>C (p.Lys1180Thr) c.3491A>C (p.Lys1164Thr) c.3260A>C (p.Lys1087Thr) c.3161A>C (p.Lys1054Thr) c.2342A>C (p.Lys781Thr) n.3893A>C
13	g.51939077_51939083del	CA6988611	ATP7B	c.1318_1324del (n.1318_1324del) c.2412_2418del (n.2412_2418del) c.3047_3053del (p.Asn1016ArgfsTer?) c.3668_3674del (p.Asn1223ArgfsTer?) c.3335_3341del (p.Asn1112ArgfsTer?) c.3416_3422del (p.Asn1139ArgfsTer?) n.909_915del c.3434_3440del (p.Asn1145ArgfsTer?) n.3807_3813del n.534_540del c.2603_2609del (p.Asn868ArgfsTer?) c.2378_2384del (p.Asn793ArgfsTer?) c.3473_3479del (p.Asn1158ArgfsTer?) c.1446_1452del c.769_775del (n.769_775del) n.4412_4418del n.3013_3019del c.3524_3530del (p.Asn1175ArgfsTer?) c.3572_3578del (p.Asn1191ArgfsTer?) c.3632_3638del (p.Asn1211ArgfsTer?) c.3182_3188del (p.Asn1061ArgfsTer?) c.1484_1490del (p.Asn495ArgfsTer?) c.1301_1307del (p.Asn434ArgfsTer?) c.3533_3539del (p.Asn1178ArgfsTer?) c.3485_3491del (p.Asn1162ArgfsTer?) c.3254_3260del (p.Asn1085ArgfsTer?) c.3155_3161del (p.Asn1052ArgfsTer?) c.2336_2342del (p.Asn779ArgfsTer?) n.3887_3893del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.51939077T>A	CA388023740	ATP7B	c.1323A>T (n.1323A>T) c.2417A>T (n.2417A>T) c.3052A>T (p.Lys1018Ter) c.3673A>T (p.Lys1225Ter) c.3340A>T (p.Lys1114Ter) c.3421A>T (p.Lys1141Ter) n.914A>T c.3439A>T (p.Lys1147Ter) n.3812A>T n.539A>T c.2608A>T (p.Lys870Ter) c.2383A>T (p.Lys795Ter) c.3478A>T (p.Lys1160Ter) c.1451A>T c.774A>T (n.774A>T) n.4417A>T n.3018A>T c.3529A>T (p.Lys1177Ter) c.3577A>T (p.Lys1193Ter) c.3637A>T (p.Lys1213Ter) c.3187A>T (p.Lys1063Ter) c.1489A>T (p.Lys497Ter) c.1306A>T (p.Lys436Ter) c.3538A>T (p.Lys1180Ter) c.3490A>T (p.Lys1164Ter) c.3259A>T (p.Lys1087Ter) c.3160A>T (p.Lys1054Ter) c.2341A>T (p.Lys781Ter) n.3892A>T	gnomAD v4
13	g.51939077T>C	CA388023741	ATP7B	c.1323A>G (n.1323A>G) c.2417A>G (n.2417A>G) c.3052A>G (p.Lys1018Glu) c.3673A>G (p.Lys1225Glu) c.3340A>G (p.Lys1114Glu) c.3421A>G (p.Lys1141Glu) n.914A>G c.3439A>G (p.Lys1147Glu) n.3812A>G n.539A>G c.2608A>G (p.Lys870Glu) c.2383A>G (p.Lys795Glu) c.3478A>G (p.Lys1160Glu) c.1451A>G c.774A>G (n.774A>G) n.4417A>G n.3018A>G c.3529A>G (p.Lys1177Glu) c.3577A>G (p.Lys1193Glu) c.3637A>G (p.Lys1213Glu) c.3187A>G (p.Lys1063Glu) c.1489A>G (p.Lys497Glu) c.1306A>G (p.Lys436Glu) c.3538A>G (p.Lys1180Glu) c.3490A>G (p.Lys1164Glu) c.3259A>G (p.Lys1087Glu) c.3160A>G (p.Lys1054Glu) c.2341A>G (p.Lys781Glu) n.3892A>G
13	g.51939077T>G	CA388023742	ATP7B	c.1323A>C (n.1323A>C) c.2417A>C (n.2417A>C) c.3052A>C (p.Lys1018Gln) c.3673A>C (p.Lys1225Gln) c.3340A>C (p.Lys1114Gln) c.3421A>C (p.Lys1141Gln) n.914A>C c.3439A>C (p.Lys1147Gln) n.3812A>C n.539A>C c.2608A>C (p.Lys870Gln) c.2383A>C (p.Lys795Gln) c.3478A>C (p.Lys1160Gln) c.1451A>C c.774A>C (n.774A>C) n.4417A>C n.3018A>C c.3529A>C (p.Lys1177Gln) c.3577A>C (p.Lys1193Gln) c.3637A>C (p.Lys1213Gln) c.3187A>C (p.Lys1063Gln) c.1489A>C (p.Lys497Gln) c.1306A>C (p.Lys436Gln) c.3538A>C (p.Lys1180Gln) c.3490A>C (p.Lys1164Gln) c.3259A>C (p.Lys1087Gln) c.3160A>C (p.Lys1054Gln) c.2341A>C (p.Lys781Gln) n.3892A>C
13	g.51939078C>A	CA483893664	ATP7B	c.1322G>T (n.1322G>T) c.2416G>T (n.2416G>T) c.3051G>T (p.Arg1017=) c.3672G>T (p.Arg1224=) c.3339G>T (p.Arg1113=) c.3420G>T (p.Arg1140=) n.913G>T c.3438G>T (p.Arg1146=) n.3811G>T n.538G>T c.2607G>T (p.Arg869=) c.2382G>T (p.Arg794=) c.3477G>T (p.Arg1159=) c.1450G>T c.773G>T (n.773G>T) n.4416G>T n.3017G>T c.3528G>T (p.Arg1176=) c.3576G>T (p.Arg1192=) c.3636G>T (p.Arg1212=) c.3186G>T (p.Arg1062=) c.1488G>T (p.Arg496=) c.1305G>T (p.Arg435=) c.3537G>T (p.Arg1179=) c.3489G>T (p.Arg1163=) c.3258G>T (p.Arg1086=) c.3159G>T (p.Arg1053=) c.2340G>T (p.Arg780=) n.3891G>T	COSMIC
13	g.51939078C=	CA2091556688	ATP7B	c.1322G= (n.1322G=) c.2416G= (n.2416G=) c.3051G= (p.Arg1017=) c.3672G= (p.Arg1224=) c.3339G= (p.Arg1113=) c.3420G= (p.Arg1140=) n.913G= c.3438G= (p.Arg1146=) n.3811G= n.538G= c.2607G= (p.Arg869=) c.2382G= (p.Arg794=) c.3477G= (p.Arg1159=) c.1450G= c.773G= (n.773G=) n.4416G= n.3017G= c.3528G= (p.Arg1176=) c.3576G= (p.Arg1192=) c.3636G= (p.Arg1212=) c.3186G= (p.Arg1062=) c.1488G= (p.Arg496=) c.1305G= (p.Arg435=) c.3537G= (p.Arg1179=) c.3489G= (p.Arg1163=) c.3258G= (p.Arg1086=) c.3159G= (p.Arg1053=) c.2340G= (p.Arg780=) n.3891G=
13	g.51939078C>G	CA483893667	ATP7B	c.1322G>C (n.1322G>C) c.2416G>C (n.2416G>C) c.3051G>C (p.Arg1017=) c.3672G>C (p.Arg1224=) c.3339G>C (p.Arg1113=) c.3420G>C (p.Arg1140=) n.913G>C c.3438G>C (p.Arg1146=) n.3811G>C n.538G>C c.2607G>C (p.Arg869=) c.2382G>C (p.Arg794=) c.3477G>C (p.Arg1159=) c.1450G>C c.773G>C (n.773G>C) n.4416G>C n.3017G>C c.3528G>C (p.Arg1176=) c.3576G>C (p.Arg1192=) c.3636G>C (p.Arg1212=) c.3186G>C (p.Arg1062=) c.1488G>C (p.Arg496=) c.1305G>C (p.Arg435=) c.3537G>C (p.Arg1179=) c.3489G>C (p.Arg1163=) c.3258G>C (p.Arg1086=) c.3159G>C (p.Arg1053=) c.2340G>C (p.Arg780=) n.3891G>C
13	g.51939078C>T	CA483893666	ATP7B	c.1322G>A (n.1322G>A) c.2416G>A (n.2416G>A) c.3051G>A (p.Arg1017=) c.3672G>A (p.Arg1224=) c.3339G>A (p.Arg1113=) c.3420G>A (p.Arg1140=) n.913G>A c.3438G>A (p.Arg1146=) n.3811G>A n.538G>A c.2607G>A (p.Arg869=) c.2382G>A (p.Arg794=) c.3477G>A (p.Arg1159=) c.1450G>A c.773G>A (n.773G>A) n.4416G>A n.3017G>A c.3528G>A (p.Arg1176=) c.3576G>A (p.Arg1192=) c.3636G>A (p.Arg1212=) c.3186G>A (p.Arg1062=) c.1488G>A (p.Arg496=) c.1305G>A (p.Arg435=) c.3537G>A (p.Arg1179=) c.3489G>A (p.Arg1163=) c.3258G>A (p.Arg1086=) c.3159G>A (p.Arg1053=) c.2340G>A (p.Arg780=) n.3891G>A
13	g.51939078_51939079insGGAA	CA609963164	ATP7B	c.1321_1322insTTCC (n.1321_1322insTTCC) c.2415_2416insTTCC (n.2415_2416insTTCC) c.3050_3051insTTCC (p.Lys1018SerfsTer?) c.3671_3672insTTCC (p.Lys1225SerfsTer?) c.3338_3339insTTCC (p.Lys1114SerfsTer?) c.3419_3420insTTCC (p.Lys1141SerfsTer?) n.912_913insTTCC c.3437_3438insTTCC (p.Lys1147SerfsTer?) n.3810_3811insTTCC n.537_538insTTCC c.2606_2607insTTCC (p.Lys870SerfsTer?) c.2381_2382insTTCC (p.Lys795SerfsTer?) c.3476_3477insTTCC (p.Lys1160SerfsTer?) c.1449_1450insTTCC c.772_773insTTCC (n.772_773insTTCC) n.4415_4416insTTCC n.3016_3017insTTCC c.3527_3528insTTCC (p.Lys1177SerfsTer?) c.3575_3576insTTCC (p.Lys1193SerfsTer?) c.3635_3636insTTCC (p.Lys1213SerfsTer?) c.3185_3186insTTCC (p.Lys1063SerfsTer?) c.1487_1488insTTCC (p.Lys497SerfsTer?) c.1304_1305insTTCC (p.Lys436SerfsTer?) c.3536_3537insTTCC (p.Lys1180SerfsTer?) c.3488_3489insTTCC (p.Lys1164SerfsTer?) c.3257_3258insTTCC (p.Lys1087SerfsTer?) c.3158_3159insTTCC (p.Lys1054SerfsTer?) c.2339_2340insTTCC (p.Lys781SerfsTer?) n.3890_3891insTTCC	dbSNP gnomAD v2 gnomAD v4
13	g.51939079C>A	CA6988612	ATP7B	c.1321G>T (n.1321G>T) c.2415G>T (n.2415G>T) c.3050G>T (p.Arg1017Leu) c.3671G>T (p.Arg1224Leu) c.3338G>T (p.Arg1113Leu) c.3419G>T (p.Arg1140Leu) n.912G>T c.3437G>T (p.Arg1146Leu) n.3810G>T n.537G>T c.2606G>T (p.Arg869Leu) c.2381G>T (p.Arg794Leu) c.3476G>T (p.Arg1159Leu) c.1449G>T c.772G>T (n.772G>T) n.4415G>T n.3016G>T c.3527G>T (p.Arg1176Leu) c.3575G>T (p.Arg1192Leu) c.3635G>T (p.Arg1212Leu) c.3185G>T (p.Arg1062Leu) c.1487G>T (p.Arg496Leu) c.1304G>T (p.Arg435Leu) c.3536G>T (p.Arg1179Leu) c.3488G>T (p.Arg1163Leu) c.3257G>T (p.Arg1086Leu) c.3158G>T (p.Arg1053Leu) c.2339G>T (p.Arg780Leu) n.3890G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13	g.51939079C=	CA2091556697	ATP7B	c.1321G= (n.1321G=) c.2415G= (n.2415G=) c.3050G= (p.Arg1017=) c.3671G= (p.Arg1224=) c.3338G= (p.Arg1113=) c.3419G= (p.Arg1140=) n.912G= c.3437G= (p.Arg1146=) n.3810G= n.537G= c.2606G= (p.Arg869=) c.2381G= (p.Arg794=) c.3476G= (p.Arg1159=) c.1449G= c.772G= (n.772G=) n.4415G= n.3016G= c.3527G= (p.Arg1176=) c.3575G= (p.Arg1192=) c.3635G= (p.Arg1212=) c.3185G= (p.Arg1062=) c.1487G= (p.Arg496=) c.1304G= (p.Arg435=) c.3536G= (p.Arg1179=) c.3488G= (p.Arg1163=) c.3257G= (p.Arg1086=) c.3158G= (p.Arg1053=) c.2339G= (p.Arg780=) n.3890G=
13	g.51939079C>G	CA388023745	ATP7B	c.1321G>C (n.1321G>C) c.2415G>C (n.2415G>C) c.3050G>C (p.Arg1017Pro) c.3671G>C (p.Arg1224Pro) c.3338G>C (p.Arg1113Pro) c.3419G>C (p.Arg1140Pro) n.912G>C c.3437G>C (p.Arg1146Pro) n.3810G>C n.537G>C c.2606G>C (p.Arg869Pro) c.2381G>C (p.Arg794Pro) c.3476G>C (p.Arg1159Pro) c.1449G>C c.772G>C (n.772G>C) n.4415G>C n.3016G>C c.3527G>C (p.Arg1176Pro) c.3575G>C (p.Arg1192Pro) c.3635G>C (p.Arg1212Pro) c.3185G>C (p.Arg1062Pro) c.1487G>C (p.Arg496Pro) c.1304G>C (p.Arg435Pro) c.3536G>C (p.Arg1179Pro) c.3488G>C (p.Arg1163Pro) c.3257G>C (p.Arg1086Pro) c.3158G>C (p.Arg1053Pro) c.2339G>C (p.Arg780Pro) n.3890G>C
13	g.51939079C>T	CA6988613	ATP7B	c.1321G>A (n.1321G>A) c.2415G>A (n.2415G>A) c.3050G>A (p.Arg1017Gln) c.3671G>A (p.Arg1224Gln) c.3338G>A (p.Arg1113Gln) c.3419G>A (p.Arg1140Gln) n.912G>A c.3437G>A (p.Arg1146Gln) n.3810G>A n.537G>A c.2606G>A (p.Arg869Gln) c.2381G>A (p.Arg794Gln) c.3476G>A (p.Arg1159Gln) c.1449G>A c.772G>A (n.772G>A) n.4415G>A n.3016G>A c.3527G>A (p.Arg1176Gln) c.3575G>A (p.Arg1192Gln) c.3635G>A (p.Arg1212Gln) c.3185G>A (p.Arg1062Gln) c.1487G>A (p.Arg496Gln) c.1304G>A (p.Arg435Gln) c.3536G>A (p.Arg1179Gln) c.3488G>A (p.Arg1163Gln) c.3257G>A (p.Arg1086Gln) c.3158G>A (p.Arg1053Gln) c.2339G>A (p.Arg780Gln) n.3890G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13	g.51939080G>A	CA6988614	ATP7B	c.1320C>T (n.1320C>T) c.2414C>T (n.2414C>T) c.3049C>T (p.Arg1017Trp) c.3670C>T (p.Arg1224Trp) c.3337C>T (p.Arg1113Trp) c.3418C>T (p.Arg1140Trp) n.911C>T c.3436C>T (p.Arg1146Trp) n.3809C>T n.536C>T c.2605C>T (p.Arg869Trp) c.2380C>T (p.Arg794Trp) c.3475C>T (p.Arg1159Trp) c.1448C>T c.771C>T (n.771C>T) n.4414C>T n.3015C>T c.3526C>T (p.Arg1176Trp) c.3574C>T (p.Arg1192Trp) c.3634C>T (p.Arg1212Trp) c.3184C>T (p.Arg1062Trp) c.1486C>T (p.Arg496Trp) c.1303C>T (p.Arg435Trp) c.3535C>T (p.Arg1179Trp) c.3487C>T (p.Arg1163Trp) c.3256C>T (p.Arg1086Trp) c.3157C>T (p.Arg1053Trp) c.2338C>T (p.Arg780Trp) n.3889C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.51939080G>C	CA388023755	ATP7B	c.1320C>G (n.1320C>G) c.2414C>G (n.2414C>G) c.3049C>G (p.Arg1017Gly) c.3670C>G (p.Arg1224Gly) c.3337C>G (p.Arg1113Gly) c.3418C>G (p.Arg1140Gly) n.911C>G c.3436C>G (p.Arg1146Gly) n.3809C>G n.536C>G c.2605C>G (p.Arg869Gly) c.2380C>G (p.Arg794Gly) c.3475C>G (p.Arg1159Gly) c.1448C>G c.771C>G (n.771C>G) n.4414C>G n.3015C>G c.3526C>G (p.Arg1176Gly) c.3574C>G (p.Arg1192Gly) c.3634C>G (p.Arg1212Gly) c.3184C>G (p.Arg1062Gly) c.1486C>G (p.Arg496Gly) c.1303C>G (p.Arg435Gly) c.3535C>G (p.Arg1179Gly) c.3487C>G (p.Arg1163Gly) c.3256C>G (p.Arg1086Gly) c.3157C>G (p.Arg1053Gly) c.2338C>G (p.Arg780Gly) n.3889C>G	ClinVar gnomAD v4
13	g.51939080G=	CA2091556705	ATP7B	c.1320C= (n.1320C=) c.2414C= (n.2414C=) c.3049C= (p.Arg1017=) c.3670C= (p.Arg1224=) c.3337C= (p.Arg1113=) c.3418C= (p.Arg1140=) n.911C= c.3436C= (p.Arg1146=) n.3809C= n.536C= c.2605C= (p.Arg869=) c.2380C= (p.Arg794=) c.3475C= (p.Arg1159=) c.1448C= c.771C= (n.771C=) n.4414C= n.3015C= c.3526C= (p.Arg1176=) c.3574C= (p.Arg1192=) c.3634C= (p.Arg1212=) c.3184C= (p.Arg1062=) c.1486C= (p.Arg496=) c.1303C= (p.Arg435=) c.3535C= (p.Arg1179=) c.3487C= (p.Arg1163=) c.3256C= (p.Arg1086=) c.3157C= (p.Arg1053=) c.2338C= (p.Arg780=) n.3889C=
13	g.51939080G>T	CA483893674	ATP7B	c.1320C>A (n.1320C>A) c.2414C>A (n.2414C>A) c.3049C>A (p.Arg1017=) c.3670C>A (p.Arg1224=) c.3337C>A (p.Arg1113=) c.3418C>A (p.Arg1140=) n.911C>A c.3436C>A (p.Arg1146=) n.3809C>A n.536C>A c.2605C>A (p.Arg869=) c.2380C>A (p.Arg794=) c.3475C>A (p.Arg1159=) c.1448C>A c.771C>A (n.771C>A) n.4414C>A n.3015C>A c.3526C>A (p.Arg1176=) c.3574C>A (p.Arg1192=) c.3634C>A (p.Arg1212=) c.3184C>A (p.Arg1062=) c.1486C>A (p.Arg496=) c.1303C>A (p.Arg435=) c.3535C>A (p.Arg1179=) c.3487C>A (p.Arg1163=) c.3256C>A (p.Arg1086=) c.3157C>A (p.Arg1053=) c.2338C>A (p.Arg780=) n.3889C>A
13	g.51939081G>A	CA483893677	ATP7B	c.1319C>T (n.1319C>T) c.2413C>T (n.2413C>T) c.3048C>T (p.Asn1016=) c.3669C>T (p.Asn1223=) c.3336C>T (p.Asn1112=) c.3417C>T (p.Asn1139=) n.910C>T c.3435C>T (p.Asn1145=) n.3808C>T n.535C>T c.2604C>T (p.Asn868=) c.2379C>T (p.Asn793=) c.3474C>T (p.Asn1158=) c.1447C>T c.770C>T (n.770C>T) n.4413C>T n.3014C>T c.3525C>T (p.Asn1175=) c.3573C>T (p.Asn1191=) c.3633C>T (p.Asn1211=) c.3183C>T (p.Asn1061=) c.1485C>T (p.Asn495=) c.1302C>T (p.Asn434=) c.3534C>T (p.Asn1178=) c.3486C>T (p.Asn1162=) c.3255C>T (p.Asn1085=) c.3156C>T (p.Asn1052=) c.2337C>T (p.Asn779=) n.3888C>T	COSMIC
13	g.51939081G>C	CA388023758	ATP7B	c.1319C>G (n.1319C>G) c.2413C>G (n.2413C>G) c.3048C>G (p.Asn1016Lys) c.3669C>G (p.Asn1223Lys) c.3336C>G (p.Asn1112Lys) c.3417C>G (p.Asn1139Lys) n.910C>G c.3435C>G (p.Asn1145Lys) n.3808C>G n.535C>G c.2604C>G (p.Asn868Lys) c.2379C>G (p.Asn793Lys) c.3474C>G (p.Asn1158Lys) c.1447C>G c.770C>G (n.770C>G) n.4413C>G n.3014C>G c.3525C>G (p.Asn1175Lys) c.3573C>G (p.Asn1191Lys) c.3633C>G (p.Asn1211Lys) c.3183C>G (p.Asn1061Lys) c.1485C>G (p.Asn495Lys) c.1302C>G (p.Asn434Lys) c.3534C>G (p.Asn1178Lys) c.3486C>G (p.Asn1162Lys) c.3255C>G (p.Asn1085Lys) c.3156C>G (p.Asn1052Lys) c.2337C>G (p.Asn779Lys) n.3888C>G
13	g.51939081G>T	CA388023759	ATP7B	c.1319C>A (n.1319C>A) c.2413C>A (n.2413C>A) c.3048C>A (p.Asn1016Lys) c.3669C>A (p.Asn1223Lys) c.3336C>A (p.Asn1112Lys) c.3417C>A (p.Asn1139Lys) n.910C>A c.3435C>A (p.Asn1145Lys) n.3808C>A n.535C>A c.2604C>A (p.Asn868Lys) c.2379C>A (p.Asn793Lys) c.3474C>A (p.Asn1158Lys) c.1447C>A c.770C>A (n.770C>A) n.4413C>A n.3014C>A c.3525C>A (p.Asn1175Lys) c.3573C>A (p.Asn1191Lys) c.3633C>A (p.Asn1211Lys) c.3183C>A (p.Asn1061Lys) c.1485C>A (p.Asn495Lys) c.1302C>A (p.Asn434Lys) c.3534C>A (p.Asn1178Lys) c.3486C>A (p.Asn1162Lys) c.3255C>A (p.Asn1085Lys) c.3156C>A (p.Asn1052Lys) c.2337C>A (p.Asn779Lys) n.3888C>A
13	g.51939082T>A	CA388023763	ATP7B	c.1318A>T (n.1318A>T) c.2412A>T (n.2412A>T) c.3047A>T (p.Asn1016Ile) c.3668A>T (p.Asn1223Ile) c.3335A>T (p.Asn1112Ile) c.3416A>T (p.Asn1139Ile) n.909A>T c.3434A>T (p.Asn1145Ile) n.3807A>T n.534A>T c.2603A>T (p.Asn868Ile) c.2378A>T (p.Asn793Ile) c.3473A>T (p.Asn1158Ile) c.1446A>T c.769A>T (n.769A>T) n.4412A>T n.3013A>T c.3524A>T (p.Asn1175Ile) c.3572A>T (p.Asn1191Ile) c.3632A>T (p.Asn1211Ile) c.3182A>T (p.Asn1061Ile) c.1484A>T (p.Asn495Ile) c.1301A>T (p.Asn434Ile) c.3533A>T (p.Asn1178Ile) c.3485A>T (p.Asn1162Ile) c.3254A>T (p.Asn1085Ile) c.3155A>T (p.Asn1052Ile) c.2336A>T (p.Asn779Ile) n.3887A>T
13	g.51939082T>C	CA388023766	ATP7B	c.1318A>G (n.1318A>G) c.2412A>G (n.2412A>G) c.3047A>G (p.Asn1016Ser) c.3668A>G (p.Asn1223Ser) c.3335A>G (p.Asn1112Ser) c.3416A>G (p.Asn1139Ser) n.909A>G c.3434A>G (p.Asn1145Ser) n.3807A>G n.534A>G c.2603A>G (p.Asn868Ser) c.2378A>G (p.Asn793Ser) c.3473A>G (p.Asn1158Ser) c.1446A>G c.769A>G (n.769A>G) n.4412A>G n.3013A>G c.3524A>G (p.Asn1175Ser) c.3572A>G (p.Asn1191Ser) c.3632A>G (p.Asn1211Ser) c.3182A>G (p.Asn1061Ser) c.1484A>G (p.Asn495Ser) c.1301A>G (p.Asn434Ser) c.3533A>G (p.Asn1178Ser) c.3485A>G (p.Asn1162Ser) c.3254A>G (p.Asn1085Ser) c.3155A>G (p.Asn1052Ser) c.2336A>G (p.Asn779Ser) n.3887A>G	gnomAD v4
13	g.51939082T>G	CA6988615	ATP7B	c.1318A>C (n.1318A>C) c.2412A>C (n.2412A>C) c.3047A>C (p.Asn1016Thr) c.3668A>C (p.Asn1223Thr) c.3335A>C (p.Asn1112Thr) c.3416A>C (p.Asn1139Thr) n.909A>C c.3434A>C (p.Asn1145Thr) n.3807A>C n.534A>C c.2603A>C (p.Asn868Thr) c.2378A>C (p.Asn793Thr) c.3473A>C (p.Asn1158Thr) c.1446A>C c.769A>C (n.769A>C) n.4412A>C n.3013A>C c.3524A>C (p.Asn1175Thr) c.3572A>C (p.Asn1191Thr) c.3632A>C (p.Asn1211Thr) c.3182A>C (p.Asn1061Thr) c.1484A>C (p.Asn495Thr) c.1301A>C (p.Asn434Thr) c.3533A>C (p.Asn1178Thr) c.3485A>C (p.Asn1162Thr) c.3254A>C (p.Asn1085Thr) c.3155A>C (p.Asn1052Thr) c.2336A>C (p.Asn779Thr) n.3887A>C	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.51939082T=	CA2091556708	ATP7B	c.1318A= (n.1318A=) c.2412A= (n.2412A=) c.3047A= (p.Asn1016=) c.3668A= (p.Asn1223=) c.3335A= (p.Asn1112=) c.3416A= (p.Asn1139=) n.909A= c.3434A= (p.Asn1145=) n.3807A= n.534A= c.2603A= (p.Asn868=) c.2378A= (p.Asn793=) c.3473A= (p.Asn1158=) c.1446A= c.769A= (n.769A=) n.4412A= n.3013A= c.3524A= (p.Asn1175=) c.3572A= (p.Asn1191=) c.3632A= (p.Asn1211=) c.3182A= (p.Asn1061=) c.1484A= (p.Asn495=) c.1301A= (p.Asn434=) c.3533A= (p.Asn1178=) c.3485A= (p.Asn1162=) c.3254A= (p.Asn1085=) c.3155A= (p.Asn1052=) c.2336A= (p.Asn779=) n.3887A=
13	g.51939083T>A	CA388023772	ATP7B	c.1317A>T (n.1317A>T) c.2411A>T (n.2411A>T) c.3046A>T (p.Asn1016Tyr) c.3667A>T (p.Asn1223Tyr) c.3334A>T (p.Asn1112Tyr) c.3415A>T (p.Asn1139Tyr) n.908A>T c.3433A>T (p.Asn1145Tyr) n.3806A>T n.533A>T c.2602A>T (p.Asn868Tyr) c.2377A>T (p.Asn793Tyr) c.3472A>T (p.Asn1158Tyr) c.1445A>T c.768A>T (n.768A>T) n.4411A>T n.3012A>T c.3523A>T (p.Asn1175Tyr) c.3571A>T (p.Asn1191Tyr) c.3631A>T (p.Asn1211Tyr) c.3181A>T (p.Asn1061Tyr) c.1483A>T (p.Asn495Tyr) c.1300A>T (p.Asn434Tyr) c.3532A>T (p.Asn1178Tyr) c.3484A>T (p.Asn1162Tyr) c.3253A>T (p.Asn1085Tyr) c.3154A>T (p.Asn1052Tyr) c.2335A>T (p.Asn779Tyr) n.3886A>T
13	g.51939083T>C	CA388023774	ATP7B	c.1317A>G (n.1317A>G) c.2411A>G (n.2411A>G) c.3046A>G (p.Asn1016Asp) c.3667A>G (p.Asn1223Asp) c.3334A>G (p.Asn1112Asp) c.3415A>G (p.Asn1139Asp) n.908A>G c.3433A>G (p.Asn1145Asp) n.3806A>G n.533A>G c.2602A>G (p.Asn868Asp) c.2377A>G (p.Asn793Asp) c.3472A>G (p.Asn1158Asp) c.1445A>G c.768A>G (n.768A>G) n.4411A>G n.3012A>G c.3523A>G (p.Asn1175Asp) c.3571A>G (p.Asn1191Asp) c.3631A>G (p.Asn1211Asp) c.3181A>G (p.Asn1061Asp) c.1483A>G (p.Asn495Asp) c.1300A>G (p.Asn434Asp) c.3532A>G (p.Asn1178Asp) c.3484A>G (p.Asn1162Asp) c.3253A>G (p.Asn1085Asp) c.3154A>G (p.Asn1052Asp) c.2335A>G (p.Asn779Asp) n.3886A>G	gnomAD v4
13	g.51939083T>G	CA388023776	ATP7B	c.1317A>C (n.1317A>C) c.2411A>C (n.2411A>C) c.3046A>C (p.Asn1016His) c.3667A>C (p.Asn1223His) c.3334A>C (p.Asn1112His) c.3415A>C (p.Asn1139His) n.908A>C c.3433A>C (p.Asn1145His) n.3806A>C n.533A>C c.2602A>C (p.Asn868His) c.2377A>C (p.Asn793His) c.3472A>C (p.Asn1158His) c.1445A>C c.768A>C (n.768A>C) n.4411A>C n.3012A>C c.3523A>C (p.Asn1175His) c.3571A>C (p.Asn1191His) c.3631A>C (p.Asn1211His) c.3181A>C (p.Asn1061His) c.1483A>C (p.Asn495His) c.1300A>C (p.Asn434His) c.3532A>C (p.Asn1178His) c.3484A>C (p.Asn1162His) c.3253A>C (p.Asn1085His) c.3154A>C (p.Asn1052His) c.2335A>C (p.Asn779His) n.3886A>C
13	g.51939084G>A	CA483893688	ATP7B	c.1316C>T (n.1316C>T) c.2410C>T (n.2410C>T) c.3045C>T (p.Asp1015=) c.3666C>T (p.Asp1222=) c.3333C>T (p.Asp1111=) c.3414C>T (p.Asp1138=) n.907C>T c.3432C>T (p.Asp1144=) n.3805C>T n.532C>T c.2601C>T (p.Asp867=) c.2376C>T (p.Asp792=) c.3471C>T (p.Asp1157=) c.1444C>T c.767C>T (n.767C>T) n.4410C>T n.3011C>T c.3522C>T (p.Asp1174=) c.3570C>T (p.Asp1190=) c.3630C>T (p.Asp1210=) c.3180C>T (p.Asp1060=) c.1482C>T (p.Asp494=) c.1299C>T (p.Asp433=) c.3531C>T (p.Asp1177=) c.3483C>T (p.Asp1161=) c.3252C>T (p.Asp1084=) c.3153C>T (p.Asp1051=) c.2334C>T (p.Asp778=) n.3885C>T	gnomAD v4
13	g.51939084G>C	CA388023787	ATP7B	c.1316C>G (n.1316C>G) c.2410C>G (n.2410C>G) c.3045C>G (p.Asp1015Glu) c.3666C>G (p.Asp1222Glu) c.3333C>G (p.Asp1111Glu) c.3414C>G (p.Asp1138Glu) n.907C>G c.3432C>G (p.Asp1144Glu) n.3805C>G n.532C>G c.2601C>G (p.Asp867Glu) c.2376C>G (p.Asp792Glu) c.3471C>G (p.Asp1157Glu) c.1444C>G c.767C>G (n.767C>G) n.4410C>G n.3011C>G c.3522C>G (p.Asp1174Glu) c.3570C>G (p.Asp1190Glu) c.3630C>G (p.Asp1210Glu) c.3180C>G (p.Asp1060Glu) c.1482C>G (p.Asp494Glu) c.1299C>G (p.Asp433Glu) c.3531C>G (p.Asp1177Glu) c.3483C>G (p.Asp1161Glu) c.3252C>G (p.Asp1084Glu) c.3153C>G (p.Asp1051Glu) c.2334C>G (p.Asp778Glu) n.3885C>G
13	g.51939084G>T	CA388023791	ATP7B	c.1316C>A (n.1316C>A) c.2410C>A (n.2410C>A) c.3045C>A (p.Asp1015Glu) c.3666C>A (p.Asp1222Glu) c.3333C>A (p.Asp1111Glu) c.3414C>A (p.Asp1138Glu) n.907C>A c.3432C>A (p.Asp1144Glu) n.3805C>A n.532C>A c.2601C>A (p.Asp867Glu) c.2376C>A (p.Asp792Glu) c.3471C>A (p.Asp1157Glu) c.1444C>A c.767C>A (n.767C>A) n.4410C>A n.3011C>A c.3522C>A (p.Asp1174Glu) c.3570C>A (p.Asp1190Glu) c.3630C>A (p.Asp1210Glu) c.3180C>A (p.Asp1060Glu) c.1482C>A (p.Asp494Glu) c.1299C>A (p.Asp433Glu) c.3531C>A (p.Asp1177Glu) c.3483C>A (p.Asp1161Glu) c.3252C>A (p.Asp1084Glu) c.3153C>A (p.Asp1051Glu) c.2334C>A (p.Asp778Glu) n.3885C>A
13	g.51939085del	CA2580087724	ATP7B	c.1315del (n.1315del) c.2409del (n.2409del) c.3044del (p.Asp1015AlafsTer?) c.3665del (p.Asp1222AlafsTer?) c.3332del (p.Asp1111AlafsTer?) c.3413del (p.Asp1138AlafsTer?) n.906del c.3431del (p.Asp1144AlafsTer?) n.3804del n.531del c.2600del (p.Asp867AlafsTer?) c.2375del (p.Asp792AlafsTer?) c.3470del (p.Asp1157AlafsTer?) c.1443del c.766del (n.766del) n.4409del n.3010del c.3521del (p.Asp1174AlafsTer?) c.3569del (p.Asp1190AlafsTer?) c.3629del (p.Asp1210AlafsTer?) c.3179del (p.Asp1060AlafsTer?) c.1481del (p.Asp494AlafsTer?) c.1298del (p.Asp433AlafsTer?) c.3530del (p.Asp1177AlafsTer?) c.3482del (p.Asp1161AlafsTer?) c.3251del (p.Asp1084AlafsTer?) c.3152del (p.Asp1051AlafsTer?) c.2333del (p.Asp778AlafsTer?) n.3884del	ClinVar
13	g.51939085T>A	CA388023795	ATP7B	c.1315A>T (n.1315A>T) c.2409A>T (n.2409A>T) c.3044A>T (p.Asp1015Val) c.3665A>T (p.Asp1222Val) c.3332A>T (p.Asp1111Val) c.3413A>T (p.Asp1138Val) n.906A>T c.3431A>T (p.Asp1144Val) n.3804A>T n.531A>T c.2600A>T (p.Asp867Val) c.2375A>T (p.Asp792Val) c.3470A>T (p.Asp1157Val) c.1443A>T c.766A>T (n.766A>T) n.4409A>T n.3010A>T c.3521A>T (p.Asp1174Val) c.3569A>T (p.Asp1190Val) c.3629A>T (p.Asp1210Val) c.3179A>T (p.Asp1060Val) c.1481A>T (p.Asp494Val) c.1298A>T (p.Asp433Val) c.3530A>T (p.Asp1177Val) c.3482A>T (p.Asp1161Val) c.3251A>T (p.Asp1084Val) c.3152A>T (p.Asp1051Val) c.2333A>T (p.Asp778Val) n.3884A>T
13	g.51939085T>C	CA388023802	ATP7B	c.1315A>G (n.1315A>G) c.2409A>G (n.2409A>G) c.3044A>G (p.Asp1015Gly) c.3665A>G (p.Asp1222Gly) c.3332A>G (p.Asp1111Gly) c.3413A>G (p.Asp1138Gly) n.906A>G c.3431A>G (p.Asp1144Gly) n.3804A>G n.531A>G c.2600A>G (p.Asp867Gly) c.2375A>G (p.Asp792Gly) c.3470A>G (p.Asp1157Gly) c.1443A>G c.766A>G (n.766A>G) n.4409A>G n.3010A>G c.3521A>G (p.Asp1174Gly) c.3569A>G (p.Asp1190Gly) c.3629A>G (p.Asp1210Gly) c.3179A>G (p.Asp1060Gly) c.1481A>G (p.Asp494Gly) c.1298A>G (p.Asp433Gly) c.3530A>G (p.Asp1177Gly) c.3482A>G (p.Asp1161Gly) c.3251A>G (p.Asp1084Gly) c.3152A>G (p.Asp1051Gly) c.2333A>G (p.Asp778Gly) n.3884A>G	gnomAD v4
13	g.51939085T>G	CA388023805	ATP7B	c.1315A>C (n.1315A>C) c.2409A>C (n.2409A>C) c.3044A>C (p.Asp1015Ala) c.3665A>C (p.Asp1222Ala) c.3332A>C (p.Asp1111Ala) c.3413A>C (p.Asp1138Ala) n.906A>C c.3431A>C (p.Asp1144Ala) n.3804A>C n.531A>C c.2600A>C (p.Asp867Ala) c.2375A>C (p.Asp792Ala) c.3470A>C (p.Asp1157Ala) c.1443A>C c.766A>C (n.766A>C) n.4409A>C n.3010A>C c.3521A>C (p.Asp1174Ala) c.3569A>C (p.Asp1190Ala) c.3629A>C (p.Asp1210Ala) c.3179A>C (p.Asp1060Ala) c.1481A>C (p.Asp494Ala) c.1298A>C (p.Asp433Ala) c.3530A>C (p.Asp1177Ala) c.3482A>C (p.Asp1161Ala) c.3251A>C (p.Asp1084Ala) c.3152A>C (p.Asp1051Ala) c.2333A>C (p.Asp778Ala) n.3884A>C
13	g.51939085_51939088del	CA912974793	ATP7B	c.1312_1315del (n.1312_1315del) c.2406_2409del (n.2406_2409del) c.3041_3044del (p.Gly1014AlafsTer?) c.3662_3665del (p.Gly1221AlafsTer?) c.3329_3332del (p.Gly1110AlafsTer?) c.3410_3413del (p.Gly1137AlafsTer?) n.903_906del c.3428_3431del (p.Gly1143AlafsTer?) n.3801_3804del n.528_531del c.2597_2600del (p.Gly866AlafsTer?) c.2372_2375del (p.Gly791AlafsTer?) c.3467_3470del (p.Gly1156AlafsTer?) c.1440_1443del c.763_766del (n.763_766del) n.4406_4409del n.3007_3010del c.3518_3521del (p.Gly1173AlafsTer?) c.3566_3569del (p.Gly1189AlafsTer?) c.3626_3629del (p.Gly1209AlafsTer?) c.3176_3179del (p.Gly1059AlafsTer?) c.1478_1481del (p.Gly493AlafsTer?) c.1295_1298del (p.Gly432AlafsTer?) c.3527_3530del (p.Gly1176AlafsTer?) c.3479_3482del (p.Gly1160AlafsTer?) c.3248_3251del (p.Gly1083AlafsTer?) c.3149_3152del (p.Gly1050AlafsTer?) c.2330_2333del (p.Gly777AlafsTer?) n.3881_3884del
13	g.51939085_51939088delinsTCCC	CA2091556711	ATP7B	c.1312_1315delinsGGGA (n.1312_1315delinsGGGA) c.2406_2409delinsGGGA (n.2406_2409delinsGGGA) c.3041_3044delinsGGGA (p.Gly1014=) c.3662_3665delinsGGGA (p.Gly1221=) c.3329_3332delinsGGGA (p.Gly1110=) c.3410_3413delinsGGGA (p.Gly1137=) n.903_906delinsGGGA c.3428_3431delinsGGGA (p.Gly1143=) n.3801_3804delinsGGGA n.528_531delinsGGGA c.2597_2600delinsGGGA (p.Gly866=) c.2372_2375delinsGGGA (p.Gly791=) c.3467_3470delinsGGGA (p.Gly1156=) c.1440_1443delinsGGGA c.763_766delinsGGGA (n.763_766delinsGGGA) n.4406_4409delinsGGGA n.3007_3010delinsGGGA c.3518_3521delinsGGGA (p.Gly1173=) c.3566_3569delinsGGGA (p.Gly1189=) c.3626_3629delinsGGGA (p.Gly1209=) c.3176_3179delinsGGGA (p.Gly1059=) c.1478_1481delinsGGGA (p.Gly493=) c.1295_1298delinsGGGA (p.Gly432=) c.3527_3530delinsGGGA (p.Gly1176=) c.3479_3482delinsGGGA (p.Gly1160=) c.3248_3251delinsGGGA (p.Gly1083=) c.3149_3152delinsGGGA (p.Gly1050=) c.2330_2333delinsGGGA (p.Gly777=) n.3881_3884delinsGGGA
13	g.51939086C>A	CA388023820	ATP7B	c.1314G>T (n.1314G>T) c.2408G>T (n.2408G>T) c.3043G>T (p.Asp1015Tyr) c.3664G>T (p.Asp1222Tyr) c.3331G>T (p.Asp1111Tyr) c.3412G>T (p.Asp1138Tyr) n.905G>T c.3430G>T (p.Asp1144Tyr) n.3803G>T n.530G>T c.2599G>T (p.Asp867Tyr) c.2374G>T (p.Asp792Tyr) c.3469G>T (p.Asp1157Tyr) c.1442G>T c.765G>T (n.765G>T) n.4408G>T n.3009G>T c.3520G>T (p.Asp1174Tyr) c.3568G>T (p.Asp1190Tyr) c.3628G>T (p.Asp1210Tyr) c.3178G>T (p.Asp1060Tyr) c.1480G>T (p.Asp494Tyr) c.1297G>T (p.Asp433Tyr) c.3529G>T (p.Asp1177Tyr) c.3481G>T (p.Asp1161Tyr) c.3250G>T (p.Asp1084Tyr) c.3151G>T (p.Asp1051Tyr) c.2332G>T (p.Asp778Tyr) n.3883G>T
13	g.51939086C>G	CA388023817	ATP7B	c.1314G>C (n.1314G>C) c.2408G>C (n.2408G>C) c.3043G>C (p.Asp1015His) c.3664G>C (p.Asp1222His) c.3331G>C (p.Asp1111His) c.3412G>C (p.Asp1138His) n.905G>C c.3430G>C (p.Asp1144His) n.3803G>C n.530G>C c.2599G>C (p.Asp867His) c.2374G>C (p.Asp792His) c.3469G>C (p.Asp1157His) c.1442G>C c.765G>C (n.765G>C) n.4408G>C n.3009G>C c.3520G>C (p.Asp1174His) c.3568G>C (p.Asp1190His) c.3628G>C (p.Asp1210His) c.3178G>C (p.Asp1060His) c.1480G>C (p.Asp494His) c.1297G>C (p.Asp433His) c.3529G>C (p.Asp1177His) c.3481G>C (p.Asp1161His) c.3250G>C (p.Asp1084His) c.3151G>C (p.Asp1051His) c.2332G>C (p.Asp778His) n.3883G>C
13	g.51939086C>T	CA388023808	ATP7B	c.1314G>A (n.1314G>A) c.2408G>A (n.2408G>A) c.3043G>A (p.Asp1015Asn) c.3664G>A (p.Asp1222Asn) c.3331G>A (p.Asp1111Asn) c.3412G>A (p.Asp1138Asn) n.905G>A c.3430G>A (p.Asp1144Asn) n.3803G>A n.530G>A c.2599G>A (p.Asp867Asn) c.2374G>A (p.Asp792Asn) c.3469G>A (p.Asp1157Asn) c.1442G>A c.765G>A (n.765G>A) n.4408G>A n.3009G>A c.3520G>A (p.Asp1174Asn) c.3568G>A (p.Asp1190Asn) c.3628G>A (p.Asp1210Asn) c.3178G>A (p.Asp1060Asn) c.1480G>A (p.Asp494Asn) c.1297G>A (p.Asp433Asn) c.3529G>A (p.Asp1177Asn) c.3481G>A (p.Asp1161Asn) c.3250G>A (p.Asp1084Asn) c.3151G>A (p.Asp1051Asn) c.2332G>A (p.Asp778Asn) n.3883G>A	ClinVar dbSNP
13	g.51939090dup	CA2573149700	ATP7B	c.1314dup (n.1314dup) c.2408dup (n.2408dup) c.3043dup (p.Asp1015GlyfsTer?) c.3664dup (p.Asp1222GlyfsTer?) c.3331dup (p.Asp1111GlyfsTer?) c.3412dup (p.Asp1138GlyfsTer?) n.905dup c.3430dup (p.Asp1144GlyfsTer?) n.3803dup n.530dup c.2599dup (p.Asp867GlyfsTer?) c.2374dup (p.Asp792GlyfsTer?) c.3469dup (p.Asp1157GlyfsTer?) c.1442dup c.765dup (n.765dup) n.4408dup n.3009dup c.3520dup (p.Asp1174GlyfsTer?) c.3568dup (p.Asp1190GlyfsTer?) c.3628dup (p.Asp1210GlyfsTer?) c.3178dup (p.Asp1060GlyfsTer?) c.1480dup (p.Asp494GlyfsTer?) c.1297dup (p.Asp433GlyfsTer?) c.3529dup (p.Asp1177GlyfsTer?) c.3481dup (p.Asp1161GlyfsTer?) c.3250dup (p.Asp1084GlyfsTer?) c.3151dup (p.Asp1051GlyfsTer?) c.2332dup (p.Asp778GlyfsTer?) n.3883dup	ClinVar dbSNP
13	g.51939090del	CA10604343	ATP7B	c.1314del (n.1314del) c.2408del (n.2408del) c.3043del (p.Asp1015ThrfsTer?) c.3664del (p.Asp1222ThrfsTer?) c.3331del (p.Asp1111ThrfsTer?) c.3412del (p.Asp1138ThrfsTer?) n.905del c.3430del (p.Asp1144ThrfsTer?) n.3803del n.530del c.2599del (p.Asp867ThrfsTer?) c.2374del (p.Asp792ThrfsTer?) c.3469del (p.Asp1157ThrfsTer?) c.1442del c.765del (n.765del) n.4408del n.3009del c.3520del (p.Asp1174ThrfsTer?) c.3568del (p.Asp1190ThrfsTer?) c.3628del (p.Asp1210ThrfsTer?) c.3178del (p.Asp1060ThrfsTer?) c.1480del (p.Asp494ThrfsTer?) c.1297del (p.Asp433ThrfsTer?) c.3529del (p.Asp1177ThrfsTer?) c.3481del (p.Asp1161ThrfsTer?) c.3250del (p.Asp1084ThrfsTer?) c.3151del (p.Asp1051ThrfsTer?) c.2332del (p.Asp778ThrfsTer?) n.3883del	ClinVar dbSNP
13	g.51939089_51939090del	CA2695218768	ATP7B	c.1313_1314del (n.1313_1314del) c.2407_2408del (n.2407_2408del) c.3042_3043del (p.Asp1015GlnfsTer?) c.3663_3664del (p.Asp1222GlnfsTer?) c.3330_3331del (p.Asp1111GlnfsTer?) c.3411_3412del (p.Asp1138GlnfsTer?) n.904_905del c.3429_3430del (p.Asp1144GlnfsTer?) n.3802_3803del n.529_530del c.2598_2599del (p.Asp867GlnfsTer?) c.2373_2374del (p.Asp792GlnfsTer?) c.3468_3469del (p.Asp1157GlnfsTer?) c.1441_1442del c.764_765del (n.764_765del) n.4407_4408del n.3008_3009del c.3519_3520del (p.Asp1174GlnfsTer?) c.3567_3568del (p.Asp1190GlnfsTer?) c.3627_3628del (p.Asp1210GlnfsTer?) c.3177_3178del (p.Asp1060GlnfsTer?) c.1479_1480del (p.Asp494GlnfsTer?) c.1296_1297del (p.Asp433GlnfsTer?) c.3528_3529del (p.Asp1177GlnfsTer?) c.3480_3481del (p.Asp1161GlnfsTer?) c.3249_3250del (p.Asp1084GlnfsTer?) c.3150_3151del (p.Asp1051GlnfsTer?) c.2331_2332del (p.Asp778GlnfsTer?) n.3882_3883del
13	g.51939088_51939090del	CA658823699	ATP7B	c.1312_1314del (n.1312_1314del) c.2406_2408del (n.2406_2408del) c.3041_3043del (p.Gly1014del) c.3662_3664del (p.Gly1221del) c.3329_3331del (p.Gly1110del) c.3410_3412del (p.Gly1137del) n.903_905del c.3428_3430del (p.Gly1143del) n.3801_3803del n.528_530del c.2597_2599del (p.Gly866del) c.2372_2374del (p.Gly791del) c.3467_3469del (p.Gly1156del) c.1440_1442del c.763_765del (n.763_765del) n.4406_4408del n.3007_3009del c.3518_3520del (p.Gly1173del) c.3566_3568del (p.Gly1189del) c.3626_3628del (p.Gly1209del) c.3176_3178del (p.Gly1059del) c.1478_1480del (p.Gly493del) c.1295_1297del (p.Gly432del) c.3527_3529del (p.Gly1176del) c.3479_3481del (p.Gly1160del) c.3248_3250del (p.Gly1083del) c.3149_3151del (p.Gly1050del) c.2330_2332del (p.Gly777del) n.3881_3883del	ClinVar dbSNP
13	g.51939087C>A	CA483893697	ATP7B	c.1313G>T (n.1313G>T) c.2407G>T (n.2407G>T) c.3042G>T (p.Gly1014=) c.3663G>T (p.Gly1221=) c.3330G>T (p.Gly1110=) c.3411G>T (p.Gly1137=) n.904G>T c.3429G>T (p.Gly1143=) n.3802G>T n.529G>T c.2598G>T (p.Gly866=) c.2373G>T (p.Gly791=) c.3468G>T (p.Gly1156=) c.1441G>T c.764G>T (n.764G>T) n.4407G>T n.3008G>T c.3519G>T (p.Gly1173=) c.3567G>T (p.Gly1189=) c.3627G>T (p.Gly1209=) c.3177G>T (p.Gly1059=) c.1479G>T (p.Gly493=) c.1296G>T (p.Gly432=) c.3528G>T (p.Gly1176=) c.3480G>T (p.Gly1160=) c.3249G>T (p.Gly1083=) c.3150G>T (p.Gly1050=) c.2331G>T (p.Gly777=) n.3882G>T	COSMIC
13	g.51939087C>G	CA483893698	ATP7B	c.1313G>C (n.1313G>C) c.2407G>C (n.2407G>C) c.3042G>C (p.Gly1014=) c.3663G>C (p.Gly1221=) c.3330G>C (p.Gly1110=) c.3411G>C (p.Gly1137=) n.904G>C c.3429G>C (p.Gly1143=) n.3802G>C n.529G>C c.2598G>C (p.Gly866=) c.2373G>C (p.Gly791=) c.3468G>C (p.Gly1156=) c.1441G>C c.764G>C (n.764G>C) n.4407G>C n.3008G>C c.3519G>C (p.Gly1173=) c.3567G>C (p.Gly1189=) c.3627G>C (p.Gly1209=) c.3177G>C (p.Gly1059=) c.1479G>C (p.Gly493=) c.1296G>C (p.Gly432=) c.3528G>C (p.Gly1176=) c.3480G>C (p.Gly1160=) c.3249G>C (p.Gly1083=) c.3150G>C (p.Gly1050=) c.2331G>C (p.Gly777=) n.3882G>C
13	g.51939087C>T	CA483893699	ATP7B	c.1313G>A (n.1313G>A) c.2407G>A (n.2407G>A) c.3042G>A (p.Gly1014=) c.3663G>A (p.Gly1221=) c.3330G>A (p.Gly1110=) c.3411G>A (p.Gly1137=) n.904G>A c.3429G>A (p.Gly1143=) n.3802G>A n.529G>A c.2598G>A (p.Gly866=) c.2373G>A (p.Gly791=) c.3468G>A (p.Gly1156=) c.1441G>A c.764G>A (n.764G>A) n.4407G>A n.3008G>A c.3519G>A (p.Gly1173=) c.3567G>A (p.Gly1189=) c.3627G>A (p.Gly1209=) c.3177G>A (p.Gly1059=) c.1479G>A (p.Gly493=) c.1296G>A (p.Gly432=) c.3528G>A (p.Gly1176=) c.3480G>A (p.Gly1160=) c.3249G>A (p.Gly1083=) c.3150G>A (p.Gly1050=) c.2331G>A (p.Gly777=) n.3882G>A
13	g.51939088C>A	CA388023826	ATP7B	c.1312G>T (n.1312G>T) c.2406G>T (n.2406G>T) c.3041G>T (p.Gly1014Val) c.3662G>T (p.Gly1221Val) c.3329G>T (p.Gly1110Val) c.3410G>T (p.Gly1137Val) n.903G>T c.3428G>T (p.Gly1143Val) n.3801G>T n.528G>T c.2597G>T (p.Gly866Val) c.2372G>T (p.Gly791Val) c.3467G>T (p.Gly1156Val) c.1440G>T c.763G>T (n.763G>T) n.4406G>T n.3007G>T c.3518G>T (p.Gly1173Val) c.3566G>T (p.Gly1189Val) c.3626G>T (p.Gly1209Val) c.3176G>T (p.Gly1059Val) c.1478G>T (p.Gly493Val) c.1295G>T (p.Gly432Val) c.3527G>T (p.Gly1176Val) c.3479G>T (p.Gly1160Val) c.3248G>T (p.Gly1083Val) c.3149G>T (p.Gly1050Val) c.2330G>T (p.Gly777Val) n.3881G>T
13	g.51939088C=	CA2091556725	ATP7B	c.1312G= (n.1312G=) c.2406G= (n.2406G=) c.3041G= (p.Gly1014=) c.3662G= (p.Gly1221=) c.3329G= (p.Gly1110=) c.3410G= (p.Gly1137=) n.903G= c.3428G= (p.Gly1143=) n.3801G= n.528G= c.2597G= (p.Gly866=) c.2372G= (p.Gly791=) c.3467G= (p.Gly1156=) c.1440G= c.763G= (n.763G=) n.4406G= n.3007G= c.3518G= (p.Gly1173=) c.3566G= (p.Gly1189=) c.3626G= (p.Gly1209=) c.3176G= (p.Gly1059=) c.1478G= (p.Gly493=) c.1295G= (p.Gly432=) c.3527G= (p.Gly1176=) c.3479G= (p.Gly1160=) c.3248G= (p.Gly1083=) c.3149G= (p.Gly1050=) c.2330G= (p.Gly777=) n.3881G=
13	g.51939088C>G	CA388023828	ATP7B	c.1312G>C (n.1312G>C) c.2406G>C (n.2406G>C) c.3041G>C (p.Gly1014Ala) c.3662G>C (p.Gly1221Ala) c.3329G>C (p.Gly1110Ala) c.3410G>C (p.Gly1137Ala) n.903G>C c.3428G>C (p.Gly1143Ala) n.3801G>C n.528G>C c.2597G>C (p.Gly866Ala) c.2372G>C (p.Gly791Ala) c.3467G>C (p.Gly1156Ala) c.1440G>C c.763G>C (n.763G>C) n.4406G>C n.3007G>C c.3518G>C (p.Gly1173Ala) c.3566G>C (p.Gly1189Ala) c.3626G>C (p.Gly1209Ala) c.3176G>C (p.Gly1059Ala) c.1478G>C (p.Gly493Ala) c.1295G>C (p.Gly432Ala) c.3527G>C (p.Gly1176Ala) c.3479G>C (p.Gly1160Ala) c.3248G>C (p.Gly1083Ala) c.3149G>C (p.Gly1050Ala) c.2330G>C (p.Gly777Ala) n.3881G>C	dbSNP gnomAD v2 gnomAD v4
13	g.51939088C>T	CA388023832	ATP7B	c.1312G>A (n.1312G>A) c.2406G>A (n.2406G>A) c.3041G>A (p.Gly1014Glu) c.3662G>A (p.Gly1221Glu) c.3329G>A (p.Gly1110Glu) c.3410G>A (p.Gly1137Glu) n.903G>A c.3428G>A (p.Gly1143Glu) n.3801G>A n.528G>A c.2597G>A (p.Gly866Glu) c.2372G>A (p.Gly791Glu) c.3467G>A (p.Gly1156Glu) c.1440G>A c.763G>A (n.763G>A) n.4406G>A n.3007G>A c.3518G>A (p.Gly1173Glu) c.3566G>A (p.Gly1189Glu) c.3626G>A (p.Gly1209Glu) c.3176G>A (p.Gly1059Glu) c.1478G>A (p.Gly493Glu) c.1295G>A (p.Gly432Glu) c.3527G>A (p.Gly1176Glu) c.3479G>A (p.Gly1160Glu) c.3248G>A (p.Gly1083Glu) c.3149G>A (p.Gly1050Glu) c.2330G>A (p.Gly777Glu) n.3881G>A	ClinVar dbSNP gnomAD v4
13	g.51939089C>A	CA388023833	ATP7B	c.1311G>T (n.1311G>T) c.2405G>T (n.2405G>T) c.3040G>T (p.Gly1014Trp) c.3661G>T (p.Gly1221Trp) c.3328G>T (p.Gly1110Trp) c.3409G>T (p.Gly1137Trp) n.902G>T c.3427G>T (p.Gly1143Trp) n.3800G>T n.527G>T c.2596G>T (p.Gly866Trp) c.2371G>T (p.Gly791Trp) c.3466G>T (p.Gly1156Trp) c.1439G>T c.762G>T (n.762G>T) n.4405G>T n.3006G>T c.3517G>T (p.Gly1173Trp) c.3565G>T (p.Gly1189Trp) c.3625G>T (p.Gly1209Trp) c.3175G>T (p.Gly1059Trp) c.1477G>T (p.Gly493Trp) c.1294G>T (p.Gly432Trp) c.3526G>T (p.Gly1176Trp) c.3478G>T (p.Gly1160Trp) c.3247G>T (p.Gly1083Trp) c.3148G>T (p.Gly1050Trp) c.2329G>T (p.Gly777Trp) n.3880G>T
13	g.51939089C>G	CA388023836	ATP7B	c.1311G>C (n.1311G>C) c.2405G>C (n.2405G>C) c.3040G>C (p.Gly1014Arg) c.3661G>C (p.Gly1221Arg) c.3328G>C (p.Gly1110Arg) c.3409G>C (p.Gly1137Arg) n.902G>C c.3427G>C (p.Gly1143Arg) n.3800G>C n.527G>C c.2596G>C (p.Gly866Arg) c.2371G>C (p.Gly791Arg) c.3466G>C (p.Gly1156Arg) c.1439G>C c.762G>C (n.762G>C) n.4405G>C n.3006G>C c.3517G>C (p.Gly1173Arg) c.3565G>C (p.Gly1189Arg) c.3625G>C (p.Gly1209Arg) c.3175G>C (p.Gly1059Arg) c.1477G>C (p.Gly493Arg) c.1294G>C (p.Gly432Arg) c.3526G>C (p.Gly1176Arg) c.3478G>C (p.Gly1160Arg) c.3247G>C (p.Gly1083Arg) c.3148G>C (p.Gly1050Arg) c.2329G>C (p.Gly777Arg) n.3880G>C	ClinVar
13	g.51939089C>T	CA388023838	ATP7B	c.1311G>A (n.1311G>A) c.2405G>A (n.2405G>A) c.3040G>A (p.Gly1014Arg) c.3661G>A (p.Gly1221Arg) c.3328G>A (p.Gly1110Arg) c.3409G>A (p.Gly1137Arg) n.902G>A c.3427G>A (p.Gly1143Arg) n.3800G>A n.527G>A c.2596G>A (p.Gly866Arg) c.2371G>A (p.Gly791Arg) c.3466G>A (p.Gly1156Arg) c.1439G>A c.762G>A (n.762G>A) n.4405G>A n.3006G>A c.3517G>A (p.Gly1173Arg) c.3565G>A (p.Gly1189Arg) c.3625G>A (p.Gly1209Arg) c.3175G>A (p.Gly1059Arg) c.1477G>A (p.Gly493Arg) c.1294G>A (p.Gly432Arg) c.3526G>A (p.Gly1176Arg) c.3478G>A (p.Gly1160Arg) c.3247G>A (p.Gly1083Arg) c.3148G>A (p.Gly1050Arg) c.2329G>A (p.Gly777Arg) n.3880G>A
13	g.51939090C>A	CA483893706	ATP7B	c.1310G>T (n.1310G>T) c.2404G>T (n.2404G>T) c.3039G>T (p.Thr1013=) c.3660G>T (p.Thr1220=) c.3327G>T (p.Thr1109=) c.3408G>T (p.Thr1136=) n.901G>T c.3426G>T (p.Thr1142=) n.3799G>T n.526G>T c.2595G>T (p.Thr865=) c.2370G>T (p.Thr790=) c.3465G>T (p.Thr1155=) c.1438G>T c.761G>T (n.761G>T) n.4404G>T n.3005G>T c.3516G>T (p.Thr1172=) c.3564G>T (p.Thr1188=) c.3624G>T (p.Thr1208=) c.3174G>T (p.Thr1058=) c.1476G>T (p.Thr492=) c.1293G>T (p.Thr431=) c.3525G>T (p.Thr1175=) c.3477G>T (p.Thr1159=) c.3246G>T (p.Thr1082=) c.3147G>T (p.Thr1049=) c.2328G>T (p.Thr776=) n.3879G>T
13	g.51939090C=	CA2091556727	ATP7B	c.1310G= (n.1310G=) c.2404G= (n.2404G=) c.3039G= (p.Thr1013=) c.3660G= (p.Thr1220=) c.3327G= (p.Thr1109=) c.3408G= (p.Thr1136=) n.901G= c.3426G= (p.Thr1142=) n.3799G= n.526G= c.2595G= (p.Thr865=) c.2370G= (p.Thr790=) c.3465G= (p.Thr1155=) c.1438G= c.761G= (n.761G=) n.4404G= n.3005G= c.3516G= (p.Thr1172=) c.3564G= (p.Thr1188=) c.3624G= (p.Thr1208=) c.3174G= (p.Thr1058=) c.1476G= (p.Thr492=) c.1293G= (p.Thr431=) c.3525G= (p.Thr1175=) c.3477G= (p.Thr1159=) c.3246G= (p.Thr1082=) c.3147G= (p.Thr1049=) c.2328G= (p.Thr776=) n.3879G=
13	g.51939090C>G	CA483893702	ATP7B	c.1310G>C (n.1310G>C) c.2404G>C (n.2404G>C) c.3039G>C (p.Thr1013=) c.3660G>C (p.Thr1220=) c.3327G>C (p.Thr1109=) c.3408G>C (p.Thr1136=) n.901G>C c.3426G>C (p.Thr1142=) n.3799G>C n.526G>C c.2595G>C (p.Thr865=) c.2370G>C (p.Thr790=) c.3465G>C (p.Thr1155=) c.1438G>C c.761G>C (n.761G>C) n.4404G>C n.3005G>C c.3516G>C (p.Thr1172=) c.3564G>C (p.Thr1188=) c.3624G>C (p.Thr1208=) c.3174G>C (p.Thr1058=) c.1476G>C (p.Thr492=) c.1293G>C (p.Thr431=) c.3525G>C (p.Thr1175=) c.3477G>C (p.Thr1159=) c.3246G>C (p.Thr1082=) c.3147G>C (p.Thr1049=) c.2328G>C (p.Thr776=) n.3879G>C	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.51939090C>T	CA483893704	ATP7B	c.1310G>A (n.1310G>A) c.2404G>A (n.2404G>A) c.3039G>A (p.Thr1013=) c.3660G>A (p.Thr1220=) c.3327G>A (p.Thr1109=) c.3408G>A (p.Thr1136=) n.901G>A c.3426G>A (p.Thr1142=) n.3799G>A n.526G>A c.2595G>A (p.Thr865=) c.2370G>A (p.Thr790=) c.3465G>A (p.Thr1155=) c.1438G>A c.761G>A (n.761G>A) n.4404G>A n.3005G>A c.3516G>A (p.Thr1172=) c.3564G>A (p.Thr1188=) c.3624G>A (p.Thr1208=) c.3174G>A (p.Thr1058=) c.1476G>A (p.Thr492=) c.1293G>A (p.Thr431=) c.3525G>A (p.Thr1175=) c.3477G>A (p.Thr1159=) c.3246G>A (p.Thr1082=) c.3147G>A (p.Thr1049=) c.2328G>A (p.Thr776=) n.3879G>A	ClinVar dbSNP gnomAD v4
13	g.51939091G>A	CA260145	ATP7B	c.1309C>T (n.1309C>T) c.2403C>T (n.2403C>T) c.3038C>T (p.Thr1013Met) c.3659C>T (p.Thr1220Met) c.3326C>T (p.Thr1109Met) c.3407C>T (p.Thr1136Met) n.900C>T c.3425C>T (p.Thr1142Met) n.3798C>T n.525C>T c.2594C>T (p.Thr865Met) c.2369C>T (p.Thr790Met) c.3464C>T (p.Thr1155Met) c.1437C>T c.760C>T (n.760C>T) n.4403C>T n.3004C>T c.3515C>T (p.Thr1172Met) c.3563C>T (p.Thr1188Met) c.3623C>T (p.Thr1208Met) c.3173C>T (p.Thr1058Met) c.1475C>T (p.Thr492Met) c.1292C>T (p.Thr431Met) c.3524C>T (p.Thr1175Met) c.3476C>T (p.Thr1159Met) c.3245C>T (p.Thr1082Met) c.3146C>T (p.Thr1049Met) c.2327C>T (p.Thr776Met) n.3878C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.51939091G>C	CA388023844	ATP7B	c.1309C>G (n.1309C>G) c.2403C>G (n.2403C>G) c.3038C>G (p.Thr1013Arg) c.3659C>G (p.Thr1220Arg) c.3326C>G (p.Thr1109Arg) c.3407C>G (p.Thr1136Arg) n.900C>G c.3425C>G (p.Thr1142Arg) n.3798C>G n.525C>G c.2594C>G (p.Thr865Arg) c.2369C>G (p.Thr790Arg) c.3464C>G (p.Thr1155Arg) c.1437C>G c.760C>G (n.760C>G) n.4403C>G n.3004C>G c.3515C>G (p.Thr1172Arg) c.3563C>G (p.Thr1188Arg) c.3623C>G (p.Thr1208Arg) c.3173C>G (p.Thr1058Arg) c.1475C>G (p.Thr492Arg) c.1292C>G (p.Thr431Arg) c.3524C>G (p.Thr1175Arg) c.3476C>G (p.Thr1159Arg) c.3245C>G (p.Thr1082Arg) c.3146C>G (p.Thr1049Arg) c.2327C>G (p.Thr776Arg) n.3878C>G
13	g.51939091G=	CA2091556734	ATP7B	c.1309C= (n.1309C=) c.2403C= (n.2403C=) c.3038C= (p.Thr1013=) c.3659C= (p.Thr1220=) c.3326C= (p.Thr1109=) c.3407C= (p.Thr1136=) n.900C= c.3425C= (p.Thr1142=) n.3798C= n.525C= c.2594C= (p.Thr865=) c.2369C= (p.Thr790=) c.3464C= (p.Thr1155=) c.1437C= c.760C= (n.760C=) n.4403C= n.3004C= c.3515C= (p.Thr1172=) c.3563C= (p.Thr1188=) c.3623C= (p.Thr1208=) c.3173C= (p.Thr1058=) c.1475C= (p.Thr492=) c.1292C= (p.Thr431=) c.3524C= (p.Thr1175=) c.3476C= (p.Thr1159=) c.3245C= (p.Thr1082=) c.3146C= (p.Thr1049=) c.2327C= (p.Thr776=) n.3878C=
13	g.51939091G>T	CA388023848	ATP7B	c.1309C>A (n.1309C>A) c.2403C>A (n.2403C>A) c.3038C>A (p.Thr1013Lys) c.3659C>A (p.Thr1220Lys) c.3326C>A (p.Thr1109Lys) c.3407C>A (p.Thr1136Lys) n.900C>A c.3425C>A (p.Thr1142Lys) n.3798C>A n.525C>A c.2594C>A (p.Thr865Lys) c.2369C>A (p.Thr790Lys) c.3464C>A (p.Thr1155Lys) c.1437C>A c.760C>A (n.760C>A) n.4403C>A n.3004C>A c.3515C>A (p.Thr1172Lys) c.3563C>A (p.Thr1188Lys) c.3623C>A (p.Thr1208Lys) c.3173C>A (p.Thr1058Lys) c.1475C>A (p.Thr492Lys) c.1292C>A (p.Thr431Lys) c.3524C>A (p.Thr1175Lys) c.3476C>A (p.Thr1159Lys) c.3245C>A (p.Thr1082Lys) c.3146C>A (p.Thr1049Lys) c.2327C>A (p.Thr776Lys) n.3878C>A
13	g.51939092T>A	CA388023851	ATP7B	c.1308A>T (n.1308A>T) c.2402A>T (n.2402A>T) c.3037A>T (p.Thr1013Ser) c.3658A>T (p.Thr1220Ser) c.3325A>T (p.Thr1109Ser) c.3406A>T (p.Thr1136Ser) n.899A>T c.3424A>T (p.Thr1142Ser) n.3797A>T n.524A>T c.2593A>T (p.Thr865Ser) c.2368A>T (p.Thr790Ser) c.3463A>T (p.Thr1155Ser) c.1436A>T c.759A>T (n.759A>T) n.4402A>T n.3003A>T c.3514A>T (p.Thr1172Ser) c.3562A>T (p.Thr1188Ser) c.3622A>T (p.Thr1208Ser) c.3172A>T (p.Thr1058Ser) c.1474A>T (p.Thr492Ser) c.1291A>T (p.Thr431Ser) c.3523A>T (p.Thr1175Ser) c.3475A>T (p.Thr1159Ser) c.3244A>T (p.Thr1082Ser) c.3145A>T (p.Thr1049Ser) c.2326A>T (p.Thr776Ser) n.3877A>T
13	g.51939092T>C	CA388023854	ATP7B	c.1308A>G (n.1308A>G) c.2402A>G (n.2402A>G) c.3037A>G (p.Thr1013Ala) c.3658A>G (p.Thr1220Ala) c.3325A>G (p.Thr1109Ala) c.3406A>G (p.Thr1136Ala) n.899A>G c.3424A>G (p.Thr1142Ala) n.3797A>G n.524A>G c.2593A>G (p.Thr865Ala) c.2368A>G (p.Thr790Ala) c.3463A>G (p.Thr1155Ala) c.1436A>G c.759A>G (n.759A>G) n.4402A>G n.3003A>G c.3514A>G (p.Thr1172Ala) c.3562A>G (p.Thr1188Ala) c.3622A>G (p.Thr1208Ala) c.3172A>G (p.Thr1058Ala) c.1474A>G (p.Thr492Ala) c.1291A>G (p.Thr431Ala) c.3523A>G (p.Thr1175Ala) c.3475A>G (p.Thr1159Ala) c.3244A>G (p.Thr1082Ala) c.3145A>G (p.Thr1049Ala) c.2326A>G (p.Thr776Ala) n.3877A>G
13	g.51939092T>G	CA388023861	ATP7B	c.1308A>C (n.1308A>C) c.2402A>C (n.2402A>C) c.3037A>C (p.Thr1013Pro) c.3658A>C (p.Thr1220Pro) c.3325A>C (p.Thr1109Pro) c.3406A>C (p.Thr1136Pro) n.899A>C c.3424A>C (p.Thr1142Pro) n.3797A>C n.524A>C c.2593A>C (p.Thr865Pro) c.2368A>C (p.Thr790Pro) c.3463A>C (p.Thr1155Pro) c.1436A>C c.759A>C (n.759A>C) n.4402A>C n.3003A>C c.3514A>C (p.Thr1172Pro) c.3562A>C (p.Thr1188Pro) c.3622A>C (p.Thr1208Pro) c.3172A>C (p.Thr1058Pro) c.1474A>C (p.Thr492Pro) c.1291A>C (p.Thr431Pro) c.3523A>C (p.Thr1175Pro) c.3475A>C (p.Thr1159Pro) c.3244A>C (p.Thr1082Pro) c.3145A>C (p.Thr1049Pro) c.2326A>C (p.Thr776Pro) n.3877A>C
13	g.51939093G>A	CA483893714	ATP7B	c.1307C>T (n.1307C>T) c.2401C>T (n.2401C>T) c.3036C>T (p.Ile1012=) c.3657C>T (p.Ile1219=) c.3324C>T (p.Ile1108=) c.3405C>T (p.Ile1135=) n.898C>T c.3423C>T (p.Ile1141=) n.3796C>T n.523C>T c.2592C>T (p.Ile864=) c.2367C>T (p.Ile789=) c.3462C>T (p.Ile1154=) c.1435C>T c.758C>T (n.758C>T) n.4401C>T n.3002C>T c.3513C>T (p.Ile1171=) c.3561C>T (p.Ile1187=) c.3621C>T (p.Ile1207=) c.3171C>T (p.Ile1057=) c.1473C>T (p.Ile491=) c.1290C>T (p.Ile430=) c.3522C>T (p.Ile1174=) c.3474C>T (p.Ile1158=) c.3243C>T (p.Ile1081=) c.3144C>T (p.Ile1048=) c.2325C>T (p.Ile775=) n.3876C>T	gnomAD v4
13	g.51939093G>C	CA388023863	ATP7B	c.1307C>G (n.1307C>G) c.2401C>G (n.2401C>G) c.3036C>G (p.Ile1012Met) c.3657C>G (p.Ile1219Met) c.3324C>G (p.Ile1108Met) c.3405C>G (p.Ile1135Met) n.898C>G c.3423C>G (p.Ile1141Met) n.3796C>G n.523C>G c.2592C>G (p.Ile864Met) c.2367C>G (p.Ile789Met) c.3462C>G (p.Ile1154Met) c.1435C>G c.758C>G (n.758C>G) n.4401C>G n.3002C>G c.3513C>G (p.Ile1171Met) c.3561C>G (p.Ile1187Met) c.3621C>G (p.Ile1207Met) c.3171C>G (p.Ile1057Met) c.1473C>G (p.Ile491Met) c.1290C>G (p.Ile430Met) c.3522C>G (p.Ile1174Met) c.3474C>G (p.Ile1158Met) c.3243C>G (p.Ile1081Met) c.3144C>G (p.Ile1048Met) c.2325C>G (p.Ile775Met) n.3876C>G
13	g.51939093G>T	CA483893718	ATP7B	c.1307C>A (n.1307C>A) c.2401C>A (n.2401C>A) c.3036C>A (p.Ile1012=) c.3657C>A (p.Ile1219=) c.3324C>A (p.Ile1108=) c.3405C>A (p.Ile1135=) n.898C>A c.3423C>A (p.Ile1141=) n.3796C>A n.523C>A c.2592C>A (p.Ile864=) c.2367C>A (p.Ile789=) c.3462C>A (p.Ile1154=) c.1435C>A c.758C>A (n.758C>A) n.4401C>A n.3002C>A c.3513C>A (p.Ile1171=) c.3561C>A (p.Ile1187=) c.3621C>A (p.Ile1207=) c.3171C>A (p.Ile1057=) c.1473C>A (p.Ile491=) c.1290C>A (p.Ile430=) c.3522C>A (p.Ile1174=) c.3474C>A (p.Ile1158=) c.3243C>A (p.Ile1081=) c.3144C>A (p.Ile1048=) c.2325C>A (p.Ile775=) n.3876C>A
13	g.51939094A=	CA2091556740	ATP7B	c.1306T= (n.1306T=) c.2400T= (n.2400T=) c.3035T= (p.Ile1012=) c.3656T= (p.Ile1219=) c.3323T= (p.Ile1108=) c.3404T= (p.Ile1135=) n.897T= c.3422T= (p.Ile1141=) n.3795T= n.522T= c.2591T= (p.Ile864=) c.2366T= (p.Ile789=) c.3461T= (p.Ile1154=) c.1434T= c.757T= (n.757T=) n.4400T= n.3001T= c.3512T= (p.Ile1171=) c.3560T= (p.Ile1187=) c.3620T= (p.Ile1207=) c.3170T= (p.Ile1057=) c.1472T= (p.Ile491=) c.1289T= (p.Ile430=) c.3521T= (p.Ile1174=) c.3473T= (p.Ile1158=) c.3242T= (p.Ile1081=) c.3143T= (p.Ile1048=) c.2324T= (p.Ile775=) n.3875T=
13	g.51939094A>C	CA388023873	ATP7B	c.1306T>G (n.1306T>G) c.2400T>G (n.2400T>G) c.3035T>G (p.Ile1012Ser) c.3656T>G (p.Ile1219Ser) c.3323T>G (p.Ile1108Ser) c.3404T>G (p.Ile1135Ser) n.897T>G c.3422T>G (p.Ile1141Ser) n.3795T>G n.522T>G c.2591T>G (p.Ile864Ser) c.2366T>G (p.Ile789Ser) c.3461T>G (p.Ile1154Ser) c.1434T>G c.757T>G (n.757T>G) n.4400T>G n.3001T>G c.3512T>G (p.Ile1171Ser) c.3560T>G (p.Ile1187Ser) c.3620T>G (p.Ile1207Ser) c.3170T>G (p.Ile1057Ser) c.1472T>G (p.Ile491Ser) c.1289T>G (p.Ile430Ser) c.3521T>G (p.Ile1174Ser) c.3473T>G (p.Ile1158Ser) c.3242T>G (p.Ile1081Ser) c.3143T>G (p.Ile1048Ser) c.2324T>G (p.Ile775Ser) n.3875T>G
13	g.51939094A>G	CA388023867	ATP7B	c.1306T>C (n.1306T>C) c.2400T>C (n.2400T>C) c.3035T>C (p.Ile1012Thr) c.3656T>C (p.Ile1219Thr) c.3323T>C (p.Ile1108Thr) c.3404T>C (p.Ile1135Thr) n.897T>C c.3422T>C (p.Ile1141Thr) n.3795T>C n.522T>C c.2591T>C (p.Ile864Thr) c.2366T>C (p.Ile789Thr) c.3461T>C (p.Ile1154Thr) c.1434T>C c.757T>C (n.757T>C) n.4400T>C n.3001T>C c.3512T>C (p.Ile1171Thr) c.3560T>C (p.Ile1187Thr) c.3620T>C (p.Ile1207Thr) c.3170T>C (p.Ile1057Thr) c.1472T>C (p.Ile491Thr) c.1289T>C (p.Ile430Thr) c.3521T>C (p.Ile1174Thr) c.3473T>C (p.Ile1158Thr) c.3242T>C (p.Ile1081Thr) c.3143T>C (p.Ile1048Thr) c.2324T>C (p.Ile775Thr) n.3875T>C
13	g.51939094A>T	CA388023869	ATP7B	c.1306T>A (n.1306T>A) c.2400T>A (n.2400T>A) c.3035T>A (p.Ile1012Asn) c.3656T>A (p.Ile1219Asn) c.3323T>A (p.Ile1108Asn) c.3404T>A (p.Ile1135Asn) n.897T>A c.3422T>A (p.Ile1141Asn) n.3795T>A n.522T>A c.2591T>A (p.Ile864Asn) c.2366T>A (p.Ile789Asn) c.3461T>A (p.Ile1154Asn) c.1434T>A c.757T>A (n.757T>A) n.4400T>A n.3001T>A c.3512T>A (p.Ile1171Asn) c.3560T>A (p.Ile1187Asn) c.3620T>A (p.Ile1207Asn) c.3170T>A (p.Ile1057Asn) c.1472T>A (p.Ile491Asn) c.1289T>A (p.Ile430Asn) c.3521T>A (p.Ile1174Asn) c.3473T>A (p.Ile1158Asn) c.3242T>A (p.Ile1081Asn) c.3143T>A (p.Ile1048Asn) c.2324T>A (p.Ile775Asn) n.3875T>A	dbSNP
13	g.51939095T>A	CA388023878	ATP7B	c.1305A>T (n.1305A>T) c.2399A>T (n.2399A>T) c.3034A>T (p.Ile1012Phe) c.3655A>T (p.Ile1219Phe) c.3322A>T (p.Ile1108Phe) c.3403A>T (p.Ile1135Phe) n.896A>T c.3421A>T (p.Ile1141Phe) n.3794A>T n.521A>T c.2590A>T (p.Ile864Phe) c.2365A>T (p.Ile789Phe) c.3460A>T (p.Ile1154Phe) c.1433A>T c.756A>T (n.756A>T) n.4399A>T n.3000A>T c.3511A>T (p.Ile1171Phe) c.3559A>T (p.Ile1187Phe) c.3619A>T (p.Ile1207Phe) c.3169A>T (p.Ile1057Phe) c.1471A>T (p.Ile491Phe) c.1288A>T (p.Ile430Phe) c.3520A>T (p.Ile1174Phe) c.3472A>T (p.Ile1158Phe) c.3241A>T (p.Ile1081Phe) c.3142A>T (p.Ile1048Phe) c.2323A>T (p.Ile775Phe) n.3874A>T
13	g.51939095T>C	CA388023879	ATP7B	c.1305A>G (n.1305A>G) c.2399A>G (n.2399A>G) c.3034A>G (p.Ile1012Val) c.3655A>G (p.Ile1219Val) c.3322A>G (p.Ile1108Val) c.3403A>G (p.Ile1135Val) n.896A>G c.3421A>G (p.Ile1141Val) n.3794A>G n.521A>G c.2590A>G (p.Ile864Val) c.2365A>G (p.Ile789Val) c.3460A>G (p.Ile1154Val) c.1433A>G c.756A>G (n.756A>G) n.4399A>G n.3000A>G c.3511A>G (p.Ile1171Val) c.3559A>G (p.Ile1187Val) c.3619A>G (p.Ile1207Val) c.3169A>G (p.Ile1057Val) c.1471A>G (p.Ile491Val) c.1288A>G (p.Ile430Val) c.3520A>G (p.Ile1174Val) c.3472A>G (p.Ile1158Val) c.3241A>G (p.Ile1081Val) c.3142A>G (p.Ile1048Val) c.2323A>G (p.Ile775Val) n.3874A>G
13	g.51939095T>G	CA388023886	ATP7B	c.1305A>C (n.1305A>C) c.2399A>C (n.2399A>C) c.3034A>C (p.Ile1012Leu) c.3655A>C (p.Ile1219Leu) c.3322A>C (p.Ile1108Leu) c.3403A>C (p.Ile1135Leu) n.896A>C c.3421A>C (p.Ile1141Leu) n.3794A>C n.521A>C c.2590A>C (p.Ile864Leu) c.2365A>C (p.Ile789Leu) c.3460A>C (p.Ile1154Leu) c.1433A>C c.756A>C (n.756A>C) n.4399A>C n.3000A>C c.3511A>C (p.Ile1171Leu) c.3559A>C (p.Ile1187Leu) c.3619A>C (p.Ile1207Leu) c.3169A>C (p.Ile1057Leu) c.1471A>C (p.Ile491Leu) c.1288A>C (p.Ile430Leu) c.3520A>C (p.Ile1174Leu) c.3472A>C (p.Ile1158Leu) c.3241A>C (p.Ile1081Leu) c.3142A>C (p.Ile1048Leu) c.2323A>C (p.Ile775Leu) n.3874A>C
13	g.51939095_51939101delinsTCAGAAC	CA2091556745	ATP7B	c.1299_1305delinsGTTCTGA (n.1299_1305delinsGTTCTGA) c.2393_2399delinsGTTCTGA (n.2393_2399delinsGTTCTGA) c.3028_3034delinsGTTCTGA (p.Val1010=) c.3649_3655delinsGTTCTGA (p.Val1217=) c.3316_3322delinsGTTCTGA (p.Val1106=) c.3397_3403delinsGTTCTGA (p.Val1133=) n.890_896delinsGTTCTGA c.3415_3421delinsGTTCTGA (p.Val1139=) n.3788_3794delinsGTTCTGA n.515_521delinsGTTCTGA c.2584_2590delinsGTTCTGA (p.Val862=) c.2359_2365delinsGTTCTGA (p.Val787=) c.3454_3460delinsGTTCTGA (p.Val1152=) c.1427_1433delinsGTTCTGA c.750_756delinsGTTCTGA (n.750_756delinsGTTCTGA) n.4393_4399delinsGTTCTGA n.2994_3000delinsGTTCTGA c.3505_3511delinsGTTCTGA (p.Val1169=) c.3553_3559delinsGTTCTGA (p.Val1185=) c.3613_3619delinsGTTCTGA (p.Val1205=) c.3163_3169delinsGTTCTGA (p.Val1055=) c.1465_1471delinsGTTCTGA (p.Val489=) c.1282_1288delinsGTTCTGA (p.Val428=) c.3514_3520delinsGTTCTGA (p.Val1172=) c.3466_3472delinsGTTCTGA (p.Val1156=) c.3235_3241delinsGTTCTGA (p.Val1079=) c.3136_3142delinsGTTCTGA (p.Val1046=) c.2317_2323delinsGTTCTGA (p.Val773=) n.3868_3874delinsGTTCTGA
13	g.51939096C>A	CA483893724	ATP7B	c.1304G>T (n.1304G>T) c.2398G>T (n.2398G>T) c.3033G>T (p.Leu1011=) c.3654G>T (p.Leu1218=) c.3321G>T (p.Leu1107=) c.3402G>T (p.Leu1134=) n.895G>T c.3420G>T (p.Leu1140=) n.3793G>T n.520G>T c.2589G>T (p.Leu863=) c.2364G>T (p.Leu788=) c.3459G>T (p.Leu1153=) c.1432G>T c.755G>T (n.755G>T) n.4398G>T n.2999G>T c.3510G>T (p.Leu1170=) c.3558G>T (p.Leu1186=) c.3618G>T (p.Leu1206=) c.3168G>T (p.Leu1056=) c.1470G>T (p.Leu490=) c.1287G>T (p.Leu429=) c.3519G>T (p.Leu1173=) c.3471G>T (p.Leu1157=) c.3240G>T (p.Leu1080=) c.3141G>T (p.Leu1047=) c.2322G>T (p.Leu774=) n.3873G>T
13	g.51939096C>G	CA483893726	ATP7B	c.1304G>C (n.1304G>C) c.2398G>C (n.2398G>C) c.3033G>C (p.Leu1011=) c.3654G>C (p.Leu1218=) c.3321G>C (p.Leu1107=) c.3402G>C (p.Leu1134=) n.895G>C c.3420G>C (p.Leu1140=) n.3793G>C n.520G>C c.2589G>C (p.Leu863=) c.2364G>C (p.Leu788=) c.3459G>C (p.Leu1153=) c.1432G>C c.755G>C (n.755G>C) n.4398G>C n.2999G>C c.3510G>C (p.Leu1170=) c.3558G>C (p.Leu1186=) c.3618G>C (p.Leu1206=) c.3168G>C (p.Leu1056=) c.1470G>C (p.Leu490=) c.1287G>C (p.Leu429=) c.3519G>C (p.Leu1173=) c.3471G>C (p.Leu1157=) c.3240G>C (p.Leu1080=) c.3141G>C (p.Leu1047=) c.2322G>C (p.Leu774=) n.3873G>C
13	g.51939096C>T	CA483893728	ATP7B	c.1304G>A (n.1304G>A) c.2398G>A (n.2398G>A) c.3033G>A (p.Leu1011=) c.3654G>A (p.Leu1218=) c.3321G>A (p.Leu1107=) c.3402G>A (p.Leu1134=) n.895G>A c.3420G>A (p.Leu1140=) n.3793G>A n.520G>A c.2589G>A (p.Leu863=) c.2364G>A (p.Leu788=) c.3459G>A (p.Leu1153=) c.1432G>A c.755G>A (n.755G>A) n.4398G>A n.2999G>A c.3510G>A (p.Leu1170=) c.3558G>A (p.Leu1186=) c.3618G>A (p.Leu1206=) c.3168G>A (p.Leu1056=) c.1470G>A (p.Leu490=) c.1287G>A (p.Leu429=) c.3519G>A (p.Leu1173=) c.3471G>A (p.Leu1157=) c.3240G>A (p.Leu1080=) c.3141G>A (p.Leu1047=) c.2322G>A (p.Leu774=) n.3873G>A	ClinVar dbSNP
13	g.51939098_51939103del	CA274259	ATP7B	c.1299_1304del (n.1299_1304del) c.2393_2398del (n.2393_2398del) c.3028_3033del (p.Val1010_Leu1011del) c.3649_3654del (p.Val1217_Leu1218del) c.3316_3321del (p.Val1106_Leu1107del) c.3397_3402del (p.Val1133_Leu1134del) n.890_895del c.3415_3420del (p.Val1139_Leu1140del) n.3788_3793del n.515_520del c.2584_2589del (p.Val862_Leu863del) c.2359_2364del (p.Val787_Leu788del) c.3454_3459del (p.Val1152_Leu1153del) c.1427_1432del c.750_755del (n.750_755del) n.4393_4398del n.2994_2999del c.3505_3510del (p.Val1169_Leu1170del) c.3553_3558del (p.Val1185_Leu1186del) c.3613_3618del (p.Val1205_Leu1206del) c.3163_3168del (p.Val1055_Leu1056del) c.1465_1470del (p.Val489_Leu490del) c.1282_1287del (p.Val428_Leu429del) c.3514_3519del (p.Val1172_Leu1173del) c.3466_3471del (p.Val1156_Leu1157del) c.3235_3240del (p.Val1079_Leu1080del) c.3136_3141del (p.Val1046_Leu1047del) c.2317_2322del (p.Val773_Leu774del) n.3868_3873del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.51939097A>C	CA388023893	ATP7B	c.1303T>G (n.1303T>G) c.2397T>G (n.2397T>G) c.3032T>G (p.Leu1011Arg) c.3653T>G (p.Leu1218Arg) c.3320T>G (p.Leu1107Arg) c.3401T>G (p.Leu1134Arg) n.894T>G c.3419T>G (p.Leu1140Arg) n.3792T>G n.519T>G c.2588T>G (p.Leu863Arg) c.2363T>G (p.Leu788Arg) c.3458T>G (p.Leu1153Arg) c.1431T>G c.754T>G (n.754T>G) n.4397T>G n.2998T>G c.3509T>G (p.Leu1170Arg) c.3557T>G (p.Leu1186Arg) c.3617T>G (p.Leu1206Arg) c.3167T>G (p.Leu1056Arg) c.1469T>G (p.Leu490Arg) c.1286T>G (p.Leu429Arg) c.3518T>G (p.Leu1173Arg) c.3470T>G (p.Leu1157Arg) c.3239T>G (p.Leu1080Arg) c.3140T>G (p.Leu1047Arg) c.2321T>G (p.Leu774Arg) n.3872T>G
13	g.51939097A>G	CA388023898	ATP7B	c.1303T>C (n.1303T>C) c.2397T>C (n.2397T>C) c.3032T>C (p.Leu1011Pro) c.3653T>C (p.Leu1218Pro) c.3320T>C (p.Leu1107Pro) c.3401T>C (p.Leu1134Pro) n.894T>C c.3419T>C (p.Leu1140Pro) n.3792T>C n.519T>C c.2588T>C (p.Leu863Pro) c.2363T>C (p.Leu788Pro) c.3458T>C (p.Leu1153Pro) c.1431T>C c.754T>C (n.754T>C) n.4397T>C n.2998T>C c.3509T>C (p.Leu1170Pro) c.3557T>C (p.Leu1186Pro) c.3617T>C (p.Leu1206Pro) c.3167T>C (p.Leu1056Pro) c.1469T>C (p.Leu490Pro) c.1286T>C (p.Leu429Pro) c.3518T>C (p.Leu1173Pro) c.3470T>C (p.Leu1157Pro) c.3239T>C (p.Leu1080Pro) c.3140T>C (p.Leu1047Pro) c.2321T>C (p.Leu774Pro) n.3872T>C
13	g.51939097A>T	CA388023906	ATP7B	c.1303T>A (n.1303T>A) c.2397T>A (n.2397T>A) c.3032T>A (p.Leu1011Gln) c.3653T>A (p.Leu1218Gln) c.3320T>A (p.Leu1107Gln) c.3401T>A (p.Leu1134Gln) n.894T>A c.3419T>A (p.Leu1140Gln) n.3792T>A n.519T>A c.2588T>A (p.Leu863Gln) c.2363T>A (p.Leu788Gln) c.3458T>A (p.Leu1153Gln) c.1431T>A c.754T>A (n.754T>A) n.4397T>A n.2998T>A c.3509T>A (p.Leu1170Gln) c.3557T>A (p.Leu1186Gln) c.3617T>A (p.Leu1206Gln) c.3167T>A (p.Leu1056Gln) c.1469T>A (p.Leu490Gln) c.1286T>A (p.Leu429Gln) c.3518T>A (p.Leu1173Gln) c.3470T>A (p.Leu1157Gln) c.3239T>A (p.Leu1080Gln) c.3140T>A (p.Leu1047Gln) c.2321T>A (p.Leu774Gln) n.3872T>A
13	g.51939098G>A	CA250075079	ATP7B	c.1302C>T (n.1302C>T) c.2396C>T (n.2396C>T) c.3031C>T (p.Leu1011=) c.3652C>T (p.Leu1218=) c.3319C>T (p.Leu1107=) c.3400C>T (p.Leu1134=) n.893C>T c.3418C>T (p.Leu1140=) n.3791C>T n.518C>T c.2587C>T (p.Leu863=) c.2362C>T (p.Leu788=) c.3457C>T (p.Leu1153=) c.1430C>T c.753C>T (n.753C>T) n.4396C>T n.2997C>T c.3508C>T (p.Leu1170=) c.3556C>T (p.Leu1186=) c.3616C>T (p.Leu1206=) c.3166C>T (p.Leu1056=) c.1468C>T (p.Leu490=) c.1285C>T (p.Leu429=) c.3517C>T (p.Leu1173=) c.3469C>T (p.Leu1157=) c.3238C>T (p.Leu1080=) c.3139C>T (p.Leu1047=) c.2320C>T (p.Leu774=) n.3871C>T	dbSNP gnomAD v4
13	g.51939098G>C	CA388023907	ATP7B	c.1302C>G (n.1302C>G) c.2396C>G (n.2396C>G) c.3031C>G (p.Leu1011Val) c.3652C>G (p.Leu1218Val) c.3319C>G (p.Leu1107Val) c.3400C>G (p.Leu1134Val) n.893C>G c.3418C>G (p.Leu1140Val) n.3791C>G n.518C>G c.2587C>G (p.Leu863Val) c.2362C>G (p.Leu788Val) c.3457C>G (p.Leu1153Val) c.1430C>G c.753C>G (n.753C>G) n.4396C>G n.2997C>G c.3508C>G (p.Leu1170Val) c.3556C>G (p.Leu1186Val) c.3616C>G (p.Leu1206Val) c.3166C>G (p.Leu1056Val) c.1468C>G (p.Leu490Val) c.1285C>G (p.Leu429Val) c.3517C>G (p.Leu1173Val) c.3469C>G (p.Leu1157Val) c.3238C>G (p.Leu1080Val) c.3139C>G (p.Leu1047Val) c.2320C>G (p.Leu774Val) n.3871C>G	COSMIC
13	g.51939098G=	CA2091556758	ATP7B	c.1302C= (n.1302C=) c.2396C= (n.2396C=) c.3031C= (p.Leu1011=) c.3652C= (p.Leu1218=) c.3319C= (p.Leu1107=) c.3400C= (p.Leu1134=) n.893C= c.3418C= (p.Leu1140=) n.3791C= n.518C= c.2587C= (p.Leu863=) c.2362C= (p.Leu788=) c.3457C= (p.Leu1153=) c.1430C= c.753C= (n.753C=) n.4396C= n.2997C= c.3508C= (p.Leu1170=) c.3556C= (p.Leu1186=) c.3616C= (p.Leu1206=) c.3166C= (p.Leu1056=) c.1468C= (p.Leu490=) c.1285C= (p.Leu429=) c.3517C= (p.Leu1173=) c.3469C= (p.Leu1157=) c.3238C= (p.Leu1080=) c.3139C= (p.Leu1047=) c.2320C= (p.Leu774=) n.3871C=
13	g.51939098G>T	CA388023908	ATP7B	c.1302C>A (n.1302C>A) c.2396C>A (n.2396C>A) c.3031C>A (p.Leu1011Met) c.3652C>A (p.Leu1218Met) c.3319C>A (p.Leu1107Met) c.3400C>A (p.Leu1134Met) n.893C>A c.3418C>A (p.Leu1140Met) n.3791C>A n.518C>A c.2587C>A (p.Leu863Met) c.2362C>A (p.Leu788Met) c.3457C>A (p.Leu1153Met) c.1430C>A c.753C>A (n.753C>A) n.4396C>A n.2997C>A c.3508C>A (p.Leu1170Met) c.3556C>A (p.Leu1186Met) c.3616C>A (p.Leu1206Met) c.3166C>A (p.Leu1056Met) c.1468C>A (p.Leu490Met) c.1285C>A (p.Leu429Met) c.3517C>A (p.Leu1173Met) c.3469C>A (p.Leu1157Met) c.3238C>A (p.Leu1080Met) c.3139C>A (p.Leu1047Met) c.2320C>A (p.Leu774Met) n.3871C>A
13	g.51939099A>C	CA483893741	ATP7B	c.1301T>G (n.1301T>G) c.2395T>G (n.2395T>G) c.3030T>G (p.Val1010=) c.3651T>G (p.Val1217=) c.3318T>G (p.Val1106=) c.3399T>G (p.Val1133=) n.892T>G c.3417T>G (p.Val1139=) n.3790T>G n.517T>G c.2586T>G (p.Val862=) c.2361T>G (p.Val787=) c.3456T>G (p.Val1152=) c.1429T>G c.752T>G (n.752T>G) n.4395T>G n.2996T>G c.3507T>G (p.Val1169=) c.3555T>G (p.Val1185=) c.3615T>G (p.Val1205=) c.3165T>G (p.Val1055=) c.1467T>G (p.Val489=) c.1284T>G (p.Val428=) c.3516T>G (p.Val1172=) c.3468T>G (p.Val1156=) c.3237T>G (p.Val1079=) c.3138T>G (p.Val1046=) c.2319T>G (p.Val773=) n.3870T>G
13	g.51939099A>G	CA483893743	ATP7B	c.1301T>C (n.1301T>C) c.2395T>C (n.2395T>C) c.3030T>C (p.Val1010=) c.3651T>C (p.Val1217=) c.3318T>C (p.Val1106=) c.3399T>C (p.Val1133=) n.892T>C c.3417T>C (p.Val1139=) n.3790T>C n.517T>C c.2586T>C (p.Val862=) c.2361T>C (p.Val787=) c.3456T>C (p.Val1152=) c.1429T>C c.752T>C (n.752T>C) n.4395T>C n.2996T>C c.3507T>C (p.Val1169=) c.3555T>C (p.Val1185=) c.3615T>C (p.Val1205=) c.3165T>C (p.Val1055=) c.1467T>C (p.Val489=) c.1284T>C (p.Val428=) c.3516T>C (p.Val1172=) c.3468T>C (p.Val1156=) c.3237T>C (p.Val1079=) c.3138T>C (p.Val1046=) c.2319T>C (p.Val773=) n.3870T>C
13	g.51939099A>T	CA483893740	ATP7B	c.1301T>A (n.1301T>A) c.2395T>A (n.2395T>A) c.3030T>A (p.Val1010=) c.3651T>A (p.Val1217=) c.3318T>A (p.Val1106=) c.3399T>A (p.Val1133=) n.892T>A c.3417T>A (p.Val1139=) n.3790T>A n.517T>A c.2586T>A (p.Val862=) c.2361T>A (p.Val787=) c.3456T>A (p.Val1152=) c.1429T>A c.752T>A (n.752T>A) n.4395T>A n.2996T>A c.3507T>A (p.Val1169=) c.3555T>A (p.Val1185=) c.3615T>A (p.Val1205=) c.3165T>A (p.Val1055=) c.1467T>A (p.Val489=) c.1284T>A (p.Val428=) c.3516T>A (p.Val1172=) c.3468T>A (p.Val1156=) c.3237T>A (p.Val1079=) c.3138T>A (p.Val1046=) c.2319T>A (p.Val773=) n.3870T>A	gnomAD v4
13	g.51939100A=	CA2091556766	ATP7B	c.1300T= (n.1300T=) c.2394T= (n.2394T=) c.3029T= (p.Val1010=) c.3650T= (p.Val1217=) c.3317T= (p.Val1106=) c.3398T= (p.Val1133=) n.891T= c.3416T= (p.Val1139=) n.3789T= n.516T= c.2585T= (p.Val862=) c.2360T= (p.Val787=) c.3455T= (p.Val1152=) c.1428T= c.751T= (n.751T=) n.4394T= n.2995T= c.3506T= (p.Val1169=) c.3554T= (p.Val1185=) c.3614T= (p.Val1205=) c.3164T= (p.Val1055=) c.1466T= (p.Val489=) c.1283T= (p.Val428=) c.3515T= (p.Val1172=) c.3467T= (p.Val1156=) c.3236T= (p.Val1079=) c.3137T= (p.Val1046=) c.2318T= (p.Val773=) n.3869T=
13	g.51939100A>C	CA388023918	ATP7B	c.1300T>G (n.1300T>G) c.2394T>G (n.2394T>G) c.3029T>G (p.Val1010Gly) c.3650T>G (p.Val1217Gly) c.3317T>G (p.Val1106Gly) c.3398T>G (p.Val1133Gly) n.891T>G c.3416T>G (p.Val1139Gly) n.3789T>G n.516T>G c.2585T>G (p.Val862Gly) c.2360T>G (p.Val787Gly) c.3455T>G (p.Val1152Gly) c.1428T>G c.751T>G (n.751T>G) n.4394T>G n.2995T>G c.3506T>G (p.Val1169Gly) c.3554T>G (p.Val1185Gly) c.3614T>G (p.Val1205Gly) c.3164T>G (p.Val1055Gly) c.1466T>G (p.Val489Gly) c.1283T>G (p.Val428Gly) c.3515T>G (p.Val1172Gly) c.3467T>G (p.Val1156Gly) c.3236T>G (p.Val1079Gly) c.3137T>G (p.Val1046Gly) c.2318T>G (p.Val773Gly) n.3869T>G
13	g.51939100A>G	CA388023913	ATP7B	c.1300T>C (n.1300T>C) c.2394T>C (n.2394T>C) c.3029T>C (p.Val1010Ala) c.3650T>C (p.Val1217Ala) c.3317T>C (p.Val1106Ala) c.3398T>C (p.Val1133Ala) n.891T>C c.3416T>C (p.Val1139Ala) n.3789T>C n.516T>C c.2585T>C (p.Val862Ala) c.2360T>C (p.Val787Ala) c.3455T>C (p.Val1152Ala) c.1428T>C c.751T>C (n.751T>C) n.4394T>C n.2995T>C c.3506T>C (p.Val1169Ala) c.3554T>C (p.Val1185Ala) c.3614T>C (p.Val1205Ala) c.3164T>C (p.Val1055Ala) c.1466T>C (p.Val489Ala) c.1283T>C (p.Val428Ala) c.3515T>C (p.Val1172Ala) c.3467T>C (p.Val1156Ala) c.3236T>C (p.Val1079Ala) c.3137T>C (p.Val1046Ala) c.2318T>C (p.Val773Ala) n.3869T>C
13	g.51939100A>T	CA388023911	ATP7B	c.1300T>A (n.1300T>A) c.2394T>A (n.2394T>A) c.3029T>A (p.Val1010Asp) c.3650T>A (p.Val1217Asp) c.3317T>A (p.Val1106Asp) c.3398T>A (p.Val1133Asp) n.891T>A c.3416T>A (p.Val1139Asp) n.3789T>A n.516T>A c.2585T>A (p.Val862Asp) c.2360T>A (p.Val787Asp) c.3455T>A (p.Val1152Asp) c.1428T>A c.751T>A (n.751T>A) n.4394T>A n.2995T>A c.3506T>A (p.Val1169Asp) c.3554T>A (p.Val1185Asp) c.3614T>A (p.Val1205Asp) c.3164T>A (p.Val1055Asp) c.1466T>A (p.Val489Asp) c.1283T>A (p.Val428Asp) c.3515T>A (p.Val1172Asp) c.3467T>A (p.Val1156Asp) c.3236T>A (p.Val1079Asp) c.3137T>A (p.Val1046Asp) c.2318T>A (p.Val773Asp) n.3869T>A	dbSNP gnomAD v3 gnomAD v4
13	g.51939101C>A	CA388023927	ATP7B	c.1299G>T (n.1299G>T) c.2393G>T (n.2393G>T) c.3028G>T (p.Val1010Phe) c.3649G>T (p.Val1217Phe) c.3316G>T (p.Val1106Phe) c.3397G>T (p.Val1133Phe) n.890G>T c.3415G>T (p.Val1139Phe) n.3788G>T n.515G>T c.2584G>T (p.Val862Phe) c.2359G>T (p.Val787Phe) c.3454G>T (p.Val1152Phe) c.1427G>T c.750G>T (n.750G>T) n.4393G>T n.2994G>T c.3505G>T (p.Val1169Phe) c.3553G>T (p.Val1185Phe) c.3613G>T (p.Val1205Phe) c.3163G>T (p.Val1055Phe) c.1465G>T (p.Val489Phe) c.1282G>T (p.Val428Phe) c.3514G>T (p.Val1172Phe) c.3466G>T (p.Val1156Phe) c.3235G>T (p.Val1079Phe) c.3136G>T (p.Val1046Phe) c.2317G>T (p.Val773Phe) n.3868G>T
13	g.51939101C>G	CA388023935	ATP7B	c.1299G>C (n.1299G>C) c.2393G>C (n.2393G>C) c.3028G>C (p.Val1010Leu) c.3649G>C (p.Val1217Leu) c.3316G>C (p.Val1106Leu) c.3397G>C (p.Val1133Leu) n.890G>C c.3415G>C (p.Val1139Leu) n.3788G>C n.515G>C c.2584G>C (p.Val862Leu) c.2359G>C (p.Val787Leu) c.3454G>C (p.Val1152Leu) c.1427G>C c.750G>C (n.750G>C) n.4393G>C n.2994G>C c.3505G>C (p.Val1169Leu) c.3553G>C (p.Val1185Leu) c.3613G>C (p.Val1205Leu) c.3163G>C (p.Val1055Leu) c.1465G>C (p.Val489Leu) c.1282G>C (p.Val428Leu) c.3514G>C (p.Val1172Leu) c.3466G>C (p.Val1156Leu) c.3235G>C (p.Val1079Leu) c.3136G>C (p.Val1046Leu) c.2317G>C (p.Val773Leu) n.3868G>C
13	g.51939101C>T	CA388023936	ATP7B	c.1299G>A (n.1299G>A) c.2393G>A (n.2393G>A) c.3028G>A (p.Val1010Ile) c.3649G>A (p.Val1217Ile) c.3316G>A (p.Val1106Ile) c.3397G>A (p.Val1133Ile) n.890G>A c.3415G>A (p.Val1139Ile) n.3788G>A n.515G>A c.2584G>A (p.Val862Ile) c.2359G>A (p.Val787Ile) c.3454G>A (p.Val1152Ile) c.1427G>A c.750G>A (n.750G>A) n.4393G>A n.2994G>A c.3505G>A (p.Val1169Ile) c.3553G>A (p.Val1185Ile) c.3613G>A (p.Val1205Ile) c.3163G>A (p.Val1055Ile) c.1465G>A (p.Val489Ile) c.1282G>A (p.Val428Ile) c.3514G>A (p.Val1172Ile) c.3466G>A (p.Val1156Ile) c.3235G>A (p.Val1079Ile) c.3136G>A (p.Val1046Ile) c.2317G>A (p.Val773Ile) n.3868G>A
13	g.51939102del	CA2623119629	ATP7B	c.1299del (n.1299del) c.2393del (n.2393del) c.3028del (p.Val1010PhefsTer2) c.3649del (p.Val1217PhefsTer2) c.3316del (p.Val1106PhefsTer2) c.3397del (p.Val1133PhefsTer2) n.890del c.3415del (p.Val1139PhefsTer2) n.3788del n.515del c.2584del (p.Val862PhefsTer2) c.2359del (p.Val787PhefsTer2) c.3454del (p.Val1152PhefsTer2) c.1427del c.750del (n.750del) n.4393del n.2994del c.3505del (p.Val1169PhefsTer2) c.3553del (p.Val1185PhefsTer2) c.3613del (p.Val1205PhefsTer2) c.3163del (p.Val1055PhefsTer2) c.1465del (p.Val489PhefsTer2) c.1282del (p.Val428PhefsTer2) c.3514del (p.Val1172PhefsTer2) c.3466del (p.Val1156PhefsTer2) c.3235del (p.Val1079PhefsTer2) c.3136del (p.Val1046PhefsTer2) c.2317del (p.Val773PhefsTer2) n.3868del	ClinVar gnomAD v4
13	g.51939102C>A	CA483893749	ATP7B	c.1298G>T (n.1298G>T) c.2392G>T (n.2392G>T) c.3027G>T (p.Val1009=) c.3648G>T (p.Val1216=) c.3315G>T (p.Val1105=) c.3396G>T (p.Val1132=) n.889G>T c.3414G>T (p.Val1138=) n.3787G>T n.514G>T c.2583G>T (p.Val861=) c.2358G>T (p.Val786=) c.3453G>T (p.Val1151=) c.1426G>T c.749G>T (n.749G>T) n.4392G>T n.2993G>T c.3504G>T (p.Val1168=) c.3552G>T (p.Val1184=) c.3612G>T (p.Val1204=) c.3162G>T (p.Val1054=) c.1464G>T (p.Val488=) c.1281G>T (p.Val427=) c.3513G>T (p.Val1171=) c.3465G>T (p.Val1155=) c.3234G>T (p.Val1078=) c.3135G>T (p.Val1045=) c.2316G>T (p.Val772=) n.3867G>T
13	g.51939102C>G	CA483893750	ATP7B	c.1298G>C (n.1298G>C) c.2392G>C (n.2392G>C) c.3027G>C (p.Val1009=) c.3648G>C (p.Val1216=) c.3315G>C (p.Val1105=) c.3396G>C (p.Val1132=) n.889G>C c.3414G>C (p.Val1138=) n.3787G>C n.514G>C c.2583G>C (p.Val861=) c.2358G>C (p.Val786=) c.3453G>C (p.Val1151=) c.1426G>C c.749G>C (n.749G>C) n.4392G>C n.2993G>C c.3504G>C (p.Val1168=) c.3552G>C (p.Val1184=) c.3612G>C (p.Val1204=) c.3162G>C (p.Val1054=) c.1464G>C (p.Val488=) c.1281G>C (p.Val427=) c.3513G>C (p.Val1171=) c.3465G>C (p.Val1155=) c.3234G>C (p.Val1078=) c.3135G>C (p.Val1045=) c.2316G>C (p.Val772=) n.3867G>C
13	g.51939102C>T	CA483893751	ATP7B	c.1298G>A (n.1298G>A) c.2392G>A (n.2392G>A) c.3027G>A (p.Val1009=) c.3648G>A (p.Val1216=) c.3315G>A (p.Val1105=) c.3396G>A (p.Val1132=) n.889G>A c.3414G>A (p.Val1138=) n.3787G>A n.514G>A c.2583G>A (p.Val861=) c.2358G>A (p.Val786=) c.3453G>A (p.Val1151=) c.1426G>A c.749G>A (n.749G>A) n.4392G>A n.2993G>A c.3504G>A (p.Val1168=) c.3552G>A (p.Val1184=) c.3612G>A (p.Val1204=) c.3162G>A (p.Val1054=) c.1464G>A (p.Val488=) c.1281G>A (p.Val427=) c.3513G>A (p.Val1171=) c.3465G>A (p.Val1155=) c.3234G>A (p.Val1078=) c.3135G>A (p.Val1045=) c.2316G>A (p.Val772=) n.3867G>A	ClinVar gnomAD v4
13	g.51939104_51939124del	CA2739277679	ATP7B	c.1278_1298del (n.1278_1298del) c.2372_2392del (n.2372_2392del) c.3007_3027del (p.Gln1003_Val1009del) c.3628_3648del (p.Gln1210_Val1216del) c.3295_3315del (p.Gln1099_Val1105del) c.3376_3396del (p.Gln1126_Val1132del) n.869_889del c.3394_3414del (p.Gln1132_Val1138del) n.3767_3787del n.494_514del c.2563_2583del (p.Gln855_Val861del) c.2338_2358del (p.Gln780_Val786del) c.3433_3453del (p.Gln1145_Val1151del) c.1406_1426del c.729_749del (n.729_749del) n.4372_4392del n.2973_2993del c.3484_3504del (p.Gln1162_Val1168del) c.3532_3552del (p.Gln1178_Val1184del) c.3592_3612del (p.Gln1198_Val1204del) c.3142_3162del (p.Gln1048_Val1054del) c.1444_1464del (p.Gln482_Val488del) c.1261_1281del (p.Gln421_Val427del) c.3493_3513del (p.Gln1165_Val1171del) c.3445_3465del (p.Gln1149_Val1155del) c.3214_3234del (p.Gln1072_Val1078del) c.3115_3135del (p.Gln1039_Val1045del) c.2296_2316del (p.Gln766_Val772del) n.3847_3867del	ClinVar
13	g.51939103A>C	CA388023941	ATP7B	c.1297T>G (n.1297T>G) c.2391T>G (n.2391T>G) c.3026T>G (p.Val1009Gly) c.3647T>G (p.Val1216Gly) c.3314T>G (p.Val1105Gly) c.3395T>G (p.Val1132Gly) n.888T>G c.3413T>G (p.Val1138Gly) n.3786T>G n.513T>G c.2582T>G (p.Val861Gly) c.2357T>G (p.Val786Gly) c.3452T>G (p.Val1151Gly) c.1425T>G c.748T>G (n.748T>G) n.4391T>G n.2992T>G c.3503T>G (p.Val1168Gly) c.3551T>G (p.Val1184Gly) c.3611T>G (p.Val1204Gly) c.3161T>G (p.Val1054Gly) c.1463T>G (p.Val488Gly) c.1280T>G (p.Val427Gly) c.3512T>G (p.Val1171Gly) c.3464T>G (p.Val1155Gly) c.3233T>G (p.Val1078Gly) c.3134T>G (p.Val1045Gly) c.2315T>G (p.Val772Gly) n.3866T>G
13	g.51939103A>G	CA388023943	ATP7B	c.1297T>C (n.1297T>C) c.2391T>C (n.2391T>C) c.3026T>C (p.Val1009Ala) c.3647T>C (p.Val1216Ala) c.3314T>C (p.Val1105Ala) c.3395T>C (p.Val1132Ala) n.888T>C c.3413T>C (p.Val1138Ala) n.3786T>C n.513T>C c.2582T>C (p.Val861Ala) c.2357T>C (p.Val786Ala) c.3452T>C (p.Val1151Ala) c.1425T>C c.748T>C (n.748T>C) n.4391T>C n.2992T>C c.3503T>C (p.Val1168Ala) c.3551T>C (p.Val1184Ala) c.3611T>C (p.Val1204Ala) c.3161T>C (p.Val1054Ala) c.1463T>C (p.Val488Ala) c.1280T>C (p.Val427Ala) c.3512T>C (p.Val1171Ala) c.3464T>C (p.Val1155Ala) c.3233T>C (p.Val1078Ala) c.3134T>C (p.Val1045Ala) c.2315T>C (p.Val772Ala) n.3866T>C
13	g.51939103A>T	CA388023949	ATP7B	c.1297T>A (n.1297T>A) c.2391T>A (n.2391T>A) c.3026T>A (p.Val1009Glu) c.3647T>A (p.Val1216Glu) c.3314T>A (p.Val1105Glu) c.3395T>A (p.Val1132Glu) n.888T>A c.3413T>A (p.Val1138Glu) n.3786T>A n.513T>A c.2582T>A (p.Val861Glu) c.2357T>A (p.Val786Glu) c.3452T>A (p.Val1151Glu) c.1425T>A c.748T>A (n.748T>A) n.4391T>A n.2992T>A c.3503T>A (p.Val1168Glu) c.3551T>A (p.Val1184Glu) c.3611T>A (p.Val1204Glu) c.3161T>A (p.Val1054Glu) c.1463T>A (p.Val488Glu) c.1280T>A (p.Val427Glu) c.3512T>A (p.Val1171Glu) c.3464T>A (p.Val1155Glu) c.3233T>A (p.Val1078Glu) c.3134T>A (p.Val1045Glu) c.2315T>A (p.Val772Glu) n.3866T>A
13	g.51939104C>A	CA388023954	ATP7B	c.1296G>T (n.1296G>T) c.2390G>T (n.2390G>T) c.3025G>T (p.Val1009Leu) c.3646G>T (p.Val1216Leu) c.3313G>T (p.Val1105Leu) c.3394G>T (p.Val1132Leu) n.887G>T c.3412G>T (p.Val1138Leu) n.3785G>T n.512G>T c.2581G>T (p.Val861Leu) c.2356G>T (p.Val786Leu) c.3451G>T (p.Val1151Leu) c.1424G>T c.747G>T (n.747G>T) n.4390G>T n.2991G>T c.3502G>T (p.Val1168Leu) c.3550G>T (p.Val1184Leu) c.3610G>T (p.Val1204Leu) c.3160G>T (p.Val1054Leu) c.1462G>T (p.Val488Leu) c.1279G>T (p.Val427Leu) c.3511G>T (p.Val1171Leu) c.3463G>T (p.Val1155Leu) c.3232G>T (p.Val1078Leu) c.3133G>T (p.Val1045Leu) c.2314G>T (p.Val772Leu) n.3865G>T
13	g.51939104C=	CA2091556770	ATP7B	c.1296G= (n.1296G=) c.2390G= (n.2390G=) c.3025G= (p.Val1009=) c.3646G= (p.Val1216=) c.3313G= (p.Val1105=) c.3394G= (p.Val1132=) n.887G= c.3412G= (p.Val1138=) n.3785G= n.512G= c.2581G= (p.Val861=) c.2356G= (p.Val786=) c.3451G= (p.Val1151=) c.1424G= c.747G= (n.747G=) n.4390G= n.2991G= c.3502G= (p.Val1168=) c.3550G= (p.Val1184=) c.3610G= (p.Val1204=) c.3160G= (p.Val1054=) c.1462G= (p.Val488=) c.1279G= (p.Val427=) c.3511G= (p.Val1171=) c.3463G= (p.Val1155=) c.3232G= (p.Val1078=) c.3133G= (p.Val1045=) c.2314G= (p.Val772=) n.3865G=
13	g.51939104C>G	CA388023956	ATP7B	c.1296G>C (n.1296G>C) c.2390G>C (n.2390G>C) c.3025G>C (p.Val1009Leu) c.3646G>C (p.Val1216Leu) c.3313G>C (p.Val1105Leu) c.3394G>C (p.Val1132Leu) n.887G>C c.3412G>C (p.Val1138Leu) n.3785G>C n.512G>C c.2581G>C (p.Val861Leu) c.2356G>C (p.Val786Leu) c.3451G>C (p.Val1151Leu) c.1424G>C c.747G>C (n.747G>C) n.4390G>C n.2991G>C c.3502G>C (p.Val1168Leu) c.3550G>C (p.Val1184Leu) c.3610G>C (p.Val1204Leu) c.3160G>C (p.Val1054Leu) c.1462G>C (p.Val488Leu) c.1279G>C (p.Val427Leu) c.3511G>C (p.Val1171Leu) c.3463G>C (p.Val1155Leu) c.3232G>C (p.Val1078Leu) c.3133G>C (p.Val1045Leu) c.2314G>C (p.Val772Leu) n.3865G>C	gnomAD v4
13	g.51939104C>T	CA274052	ATP7B	c.1296G>A (n.1296G>A) c.2390G>A (n.2390G>A) c.3025G>A (p.Val1009Met) c.3646G>A (p.Val1216Met) c.3313G>A (p.Val1105Met) c.3394G>A (p.Val1132Met) n.887G>A c.3412G>A (p.Val1138Met) n.3785G>A n.512G>A c.2581G>A (p.Val861Met) c.2356G>A (p.Val786Met) c.3451G>A (p.Val1151Met) c.1424G>A c.747G>A (n.747G>A) n.4390G>A n.2991G>A c.3502G>A (p.Val1168Met) c.3550G>A (p.Val1184Met) c.3610G>A (p.Val1204Met) c.3160G>A (p.Val1054Met) c.1462G>A (p.Val488Met) c.1279G>A (p.Val427Met) c.3511G>A (p.Val1171Met) c.3463G>A (p.Val1155Met) c.3232G>A (p.Val1078Met) c.3133G>A (p.Val1045Met) c.2314G>A (p.Val772Met) n.3865G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.51939105G>A	CA6988616	ATP7B	c.1295C>T (n.1295C>T) c.2389C>T (n.2389C>T) c.3024C>T (p.Asp1008=) c.3645C>T (p.Asp1215=) c.3312C>T (p.Asp1104=) c.3393C>T (p.Asp1131=) n.886C>T c.3411C>T (p.Asp1137=) n.3784C>T n.511C>T c.2580C>T (p.Asp860=) c.2355C>T (p.Asp785=) c.3450C>T (p.Asp1150=) c.1423C>T c.746C>T (n.746C>T) n.4389C>T n.2990C>T c.3501C>T (p.Asp1167=) c.3549C>T (p.Asp1183=) c.3609C>T (p.Asp1203=) c.3159C>T (p.Asp1053=) c.1461C>T (p.Asp487=) c.1278C>T (p.Asp426=) c.3510C>T (p.Asp1170=) c.3462C>T (p.Asp1154=) c.3231C>T (p.Asp1077=) c.3132C>T (p.Asp1044=) c.2313C>T (p.Asp771=) n.3864C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.51939105G>C	CA388023961	ATP7B	c.1295C>G (n.1295C>G) c.2389C>G (n.2389C>G) c.3024C>G (p.Asp1008Glu) c.3645C>G (p.Asp1215Glu) c.3312C>G (p.Asp1104Glu) c.3393C>G (p.Asp1131Glu) n.886C>G c.3411C>G (p.Asp1137Glu) n.3784C>G n.511C>G c.2580C>G (p.Asp860Glu) c.2355C>G (p.Asp785Glu) c.3450C>G (p.Asp1150Glu) c.1423C>G c.746C>G (n.746C>G) n.4389C>G n.2990C>G c.3501C>G (p.Asp1167Glu) c.3549C>G (p.Asp1183Glu) c.3609C>G (p.Asp1203Glu) c.3159C>G (p.Asp1053Glu) c.1461C>G (p.Asp487Glu) c.1278C>G (p.Asp426Glu) c.3510C>G (p.Asp1170Glu) c.3462C>G (p.Asp1154Glu) c.3231C>G (p.Asp1077Glu) c.3132C>G (p.Asp1044Glu) c.2313C>G (p.Asp771Glu) n.3864C>G
13	g.51939105G=	CA2091556776	ATP7B	c.1295C= (n.1295C=) c.2389C= (n.2389C=) c.3024C= (p.Asp1008=) c.3645C= (p.Asp1215=) c.3312C= (p.Asp1104=) c.3393C= (p.Asp1131=) n.886C= c.3411C= (p.Asp1137=) n.3784C= n.511C= c.2580C= (p.Asp860=) c.2355C= (p.Asp785=) c.3450C= (p.Asp1150=) c.1423C= c.746C= (n.746C=) n.4389C= n.2990C= c.3501C= (p.Asp1167=) c.3549C= (p.Asp1183=) c.3609C= (p.Asp1203=) c.3159C= (p.Asp1053=) c.1461C= (p.Asp487=) c.1278C= (p.Asp426=) c.3510C= (p.Asp1170=) c.3462C= (p.Asp1154=) c.3231C= (p.Asp1077=) c.3132C= (p.Asp1044=) c.2313C= (p.Asp771=) n.3864C=
13	g.51939105G>T	CA388023962	ATP7B	c.1295C>A (n.1295C>A) c.2389C>A (n.2389C>A) c.3024C>A (p.Asp1008Glu) c.3645C>A (p.Asp1215Glu) c.3312C>A (p.Asp1104Glu) c.3393C>A (p.Asp1131Glu) n.886C>A c.3411C>A (p.Asp1137Glu) n.3784C>A n.511C>A c.2580C>A (p.Asp860Glu) c.2355C>A (p.Asp785Glu) c.3450C>A (p.Asp1150Glu) c.1423C>A c.746C>A (n.746C>A) n.4389C>A n.2990C>A c.3501C>A (p.Asp1167Glu) c.3549C>A (p.Asp1183Glu) c.3609C>A (p.Asp1203Glu) c.3159C>A (p.Asp1053Glu) c.1461C>A (p.Asp487Glu) c.1278C>A (p.Asp426Glu) c.3510C>A (p.Asp1170Glu) c.3462C>A (p.Asp1154Glu) c.3231C>A (p.Asp1077Glu) c.3132C>A (p.Asp1044Glu) c.2313C>A (p.Asp771Glu) n.3864C>A
13	g.51939106T>A	CA388023973	ATP7B	c.1294A>T (n.1294A>T) c.2388A>T (n.2388A>T) c.3023A>T (p.Asp1008Val) c.3644A>T (p.Asp1215Val) c.3311A>T (p.Asp1104Val) c.3392A>T (p.Asp1131Val) n.885A>T c.3410A>T (p.Asp1137Val) n.3783A>T n.510A>T c.2579A>T (p.Asp860Val) c.2354A>T (p.Asp785Val) c.3449A>T (p.Asp1150Val) c.1422A>T c.745A>T (n.745A>T) n.4388A>T n.2989A>T c.3500A>T (p.Asp1167Val) c.3548A>T (p.Asp1183Val) c.3608A>T (p.Asp1203Val) c.3158A>T (p.Asp1053Val) c.1460A>T (p.Asp487Val) c.1277A>T (p.Asp426Val) c.3509A>T (p.Asp1170Val) c.3461A>T (p.Asp1154Val) c.3230A>T (p.Asp1077Val) c.3131A>T (p.Asp1044Val) c.2312A>T (p.Asp771Val) n.3863A>T
13	g.51939106T>C	CA388023964	ATP7B	c.1294A>G (n.1294A>G) c.2388A>G (n.2388A>G) c.3023A>G (p.Asp1008Gly) c.3644A>G (p.Asp1215Gly) c.3311A>G (p.Asp1104Gly) c.3392A>G (p.Asp1131Gly) n.885A>G c.3410A>G (p.Asp1137Gly) n.3783A>G n.510A>G c.2579A>G (p.Asp860Gly) c.2354A>G (p.Asp785Gly) c.3449A>G (p.Asp1150Gly) c.1422A>G c.745A>G (n.745A>G) n.4388A>G n.2989A>G c.3500A>G (p.Asp1167Gly) c.3548A>G (p.Asp1183Gly) c.3608A>G (p.Asp1203Gly) c.3158A>G (p.Asp1053Gly) c.1460A>G (p.Asp487Gly) c.1277A>G (p.Asp426Gly) c.3509A>G (p.Asp1170Gly) c.3461A>G (p.Asp1154Gly) c.3230A>G (p.Asp1077Gly) c.3131A>G (p.Asp1044Gly) c.2312A>G (p.Asp771Gly) n.3863A>G	ClinVar dbSNP
13	g.51939106T>G	CA388023963	ATP7B	c.1294A>C (n.1294A>C) c.2388A>C (n.2388A>C) c.3023A>C (p.Asp1008Ala) c.3644A>C (p.Asp1215Ala) c.3311A>C (p.Asp1104Ala) c.3392A>C (p.Asp1131Ala) n.885A>C c.3410A>C (p.Asp1137Ala) n.3783A>C n.510A>C c.2579A>C (p.Asp860Ala) c.2354A>C (p.Asp785Ala) c.3449A>C (p.Asp1150Ala) c.1422A>C c.745A>C (n.745A>C) n.4388A>C n.2989A>C c.3500A>C (p.Asp1167Ala) c.3548A>C (p.Asp1183Ala) c.3608A>C (p.Asp1203Ala) c.3158A>C (p.Asp1053Ala) c.1460A>C (p.Asp487Ala) c.1277A>C (p.Asp426Ala) c.3509A>C (p.Asp1170Ala) c.3461A>C (p.Asp1154Ala) c.3230A>C (p.Asp1077Ala) c.3131A>C (p.Asp1044Ala) c.2312A>C (p.Asp771Ala) n.3863A>C
13	g.51939106T=	CA2091556779	ATP7B	c.1294A= (n.1294A=) c.2388A= (n.2388A=) c.3023A= (p.Asp1008=) c.3644A= (p.Asp1215=) c.3311A= (p.Asp1104=) c.3392A= (p.Asp1131=) n.885A= c.3410A= (p.Asp1137=) n.3783A= n.510A= c.2579A= (p.Asp860=) c.2354A= (p.Asp785=) c.3449A= (p.Asp1150=) c.1422A= c.745A= (n.745A=) n.4388A= n.2989A= c.3500A= (p.Asp1167=) c.3548A= (p.Asp1183=) c.3608A= (p.Asp1203=) c.3158A= (p.Asp1053=) c.1460A= (p.Asp487=) c.1277A= (p.Asp426=) c.3509A= (p.Asp1170=) c.3461A= (p.Asp1154=) c.3230A= (p.Asp1077=) c.3131A= (p.Asp1044=) c.2312A= (p.Asp771=) n.3863A=
13	g.51939107C>A	CA388023976	ATP7B	c.1293G>T (n.1293G>T) c.2387G>T (n.2387G>T) c.3022G>T (p.Asp1008Tyr) c.3643G>T (p.Asp1215Tyr) c.3310G>T (p.Asp1104Tyr) c.3391G>T (p.Asp1131Tyr) n.884G>T c.3409G>T (p.Asp1137Tyr) n.3782G>T n.509G>T c.2578G>T (p.Asp860Tyr) c.2353G>T (p.Asp785Tyr) c.3448G>T (p.Asp1150Tyr) c.1421G>T c.744G>T (n.744G>T) n.4387G>T n.2988G>T c.3499G>T (p.Asp1167Tyr) c.3547G>T (p.Asp1183Tyr) c.3607G>T (p.Asp1203Tyr) c.3157G>T (p.Asp1053Tyr) c.1459G>T (p.Asp487Tyr) c.1276G>T (p.Asp426Tyr) c.3508G>T (p.Asp1170Tyr) c.3460G>T (p.Asp1154Tyr) c.3229G>T (p.Asp1077Tyr) c.3130G>T (p.Asp1044Tyr) c.2311G>T (p.Asp771Tyr) n.3862G>T
13	g.51939107C>G	CA388023980	ATP7B	c.1293G>C (n.1293G>C) c.2387G>C (n.2387G>C) c.3022G>C (p.Asp1008His) c.3643G>C (p.Asp1215His) c.3310G>C (p.Asp1104His) c.3391G>C (p.Asp1131His) n.884G>C c.3409G>C (p.Asp1137His) n.3782G>C n.509G>C c.2578G>C (p.Asp860His) c.2353G>C (p.Asp785His) c.3448G>C (p.Asp1150His) c.1421G>C c.744G>C (n.744G>C) n.4387G>C n.2988G>C c.3499G>C (p.Asp1167His) c.3547G>C (p.Asp1183His) c.3607G>C (p.Asp1203His) c.3157G>C (p.Asp1053His) c.1459G>C (p.Asp487His) c.1276G>C (p.Asp426His) c.3508G>C (p.Asp1170His) c.3460G>C (p.Asp1154His) c.3229G>C (p.Asp1077His) c.3130G>C (p.Asp1044His) c.2311G>C (p.Asp771His) n.3862G>C
13	g.51939107C>T	CA388023978	ATP7B	c.1293G>A (n.1293G>A) c.2387G>A (n.2387G>A) c.3022G>A (p.Asp1008Asn) c.3643G>A (p.Asp1215Asn) c.3310G>A (p.Asp1104Asn) c.3391G>A (p.Asp1131Asn) n.884G>A c.3409G>A (p.Asp1137Asn) n.3782G>A n.509G>A c.2578G>A (p.Asp860Asn) c.2353G>A (p.Asp785Asn) c.3448G>A (p.Asp1150Asn) c.1421G>A c.744G>A (n.744G>A) n.4387G>A n.2988G>A c.3499G>A (p.Asp1167Asn) c.3547G>A (p.Asp1183Asn) c.3607G>A (p.Asp1203Asn) c.3157G>A (p.Asp1053Asn) c.1459G>A (p.Asp487Asn) c.1276G>A (p.Asp426Asn) c.3508G>A (p.Asp1170Asn) c.3460G>A (p.Asp1154Asn) c.3229G>A (p.Asp1077Asn) c.3130G>A (p.Asp1044Asn) c.2311G>A (p.Asp771Asn) n.3862G>A	COSMIC
13	g.51939108C>A	CA483893752	ATP7B	c.1292G>T (n.1292G>T) c.2386G>T (n.2386G>T) c.3021G>T (p.Val1007=) c.3642G>T (p.Val1214=) c.3309G>T (p.Val1103=) c.3390G>T (p.Val1130=) n.883G>T c.3408G>T (p.Val1136=) n.3781G>T n.508G>T c.2577G>T (p.Val859=) c.2352G>T (p.Val784=) c.3447G>T (p.Val1149=) c.1420G>T c.743G>T (n.743G>T) n.4386G>T n.2987G>T c.3498G>T (p.Val1166=) c.3546G>T (p.Val1182=) c.3606G>T (p.Val1202=) c.3156G>T (p.Val1052=) c.1458G>T (p.Val486=) c.1275G>T (p.Val425=) c.3507G>T (p.Val1169=) c.3459G>T (p.Val1153=) c.3228G>T (p.Val1076=) c.3129G>T (p.Val1043=) c.2310G>T (p.Val770=) n.3861G>T
13	g.51939108C=	CA2091556783	ATP7B	c.1292G= (n.1292G=) c.2386G= (n.2386G=) c.3021G= (p.Val1007=) c.3642G= (p.Val1214=) c.3309G= (p.Val1103=) c.3390G= (p.Val1130=) n.883G= c.3408G= (p.Val1136=) n.3781G= n.508G= c.2577G= (p.Val859=) c.2352G= (p.Val784=) c.3447G= (p.Val1149=) c.1420G= c.743G= (n.743G=) n.4386G= n.2987G= c.3498G= (p.Val1166=) c.3546G= (p.Val1182=) c.3606G= (p.Val1202=) c.3156G= (p.Val1052=) c.1458G= (p.Val486=) c.1275G= (p.Val425=) c.3507G= (p.Val1169=) c.3459G= (p.Val1153=) c.3228G= (p.Val1076=) c.3129G= (p.Val1043=) c.2310G= (p.Val770=) n.3861G=
13	g.51939108C>G	CA483893753	ATP7B	c.1292G>C (n.1292G>C) c.2386G>C (n.2386G>C) c.3021G>C (p.Val1007=) c.3642G>C (p.Val1214=) c.3309G>C (p.Val1103=) c.3390G>C (p.Val1130=) n.883G>C c.3408G>C (p.Val1136=) n.3781G>C n.508G>C c.2577G>C (p.Val859=) c.2352G>C (p.Val784=) c.3447G>C (p.Val1149=) c.1420G>C c.743G>C (n.743G>C) n.4386G>C n.2987G>C c.3498G>C (p.Val1166=) c.3546G>C (p.Val1182=) c.3606G>C (p.Val1202=) c.3156G>C (p.Val1052=) c.1458G>C (p.Val486=) c.1275G>C (p.Val425=) c.3507G>C (p.Val1169=) c.3459G>C (p.Val1153=) c.3228G>C (p.Val1076=) c.3129G>C (p.Val1043=) c.2310G>C (p.Val770=) n.3861G>C	gnomAD v4
13	g.51939108C>T	CA483893754	ATP7B	c.1292G>A (n.1292G>A) c.2386G>A (n.2386G>A) c.3021G>A (p.Val1007=) c.3642G>A (p.Val1214=) c.3309G>A (p.Val1103=) c.3390G>A (p.Val1130=) n.883G>A c.3408G>A (p.Val1136=) n.3781G>A n.508G>A c.2577G>A (p.Val859=) c.2352G>A (p.Val784=) c.3447G>A (p.Val1149=) c.1420G>A c.743G>A (n.743G>A) n.4386G>A n.2987G>A c.3498G>A (p.Val1166=) c.3546G>A (p.Val1182=) c.3606G>A (p.Val1202=) c.3156G>A (p.Val1052=) c.1458G>A (p.Val486=) c.1275G>A (p.Val425=) c.3507G>A (p.Val1169=) c.3459G>A (p.Val1153=) c.3228G>A (p.Val1076=) c.3129G>A (p.Val1043=) c.2310G>A (p.Val770=) n.3861G>A	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.51939111_51939112del	CA2695218773	ATP7B	c.1291_1292del (n.1291_1292del) c.2385_2386del (n.2385_2386del) c.3020_3021del (p.Val1007GlyfsTer?) c.3641_3642del (p.Val1214GlyfsTer?) c.3308_3309del (p.Val1103GlyfsTer?) c.3389_3390del (p.Val1130GlyfsTer?) n.882_883del c.3407_3408del (p.Val1136GlyfsTer?) n.3780_3781del n.507_508del c.2576_2577del (p.Val859GlyfsTer?) c.2351_2352del (p.Val784GlyfsTer?) c.3446_3447del (p.Val1149GlyfsTer?) c.1419_1420del c.742_743del (n.742_743del) n.4385_4386del n.2986_2987del c.3497_3498del (p.Val1166GlyfsTer?) c.3545_3546del (p.Val1182GlyfsTer?) c.3605_3606del (p.Val1202GlyfsTer?) c.3155_3156del (p.Val1052GlyfsTer?) c.1457_1458del (p.Val486GlyfsTer?) c.1274_1275del (p.Val425GlyfsTer?) c.3506_3507del (p.Val1169GlyfsTer?) c.3458_3459del (p.Val1153GlyfsTer?) c.3227_3228del (p.Val1076GlyfsTer?) c.3128_3129del (p.Val1043GlyfsTer?) c.2309_2310del (p.Val770GlyfsTer?) n.3860_3861del
13	g.51939109A>C	CA388023982	ATP7B	c.1291T>G (n.1291T>G) c.2385T>G (n.2385T>G) c.3020T>G (p.Val1007Gly) c.3641T>G (p.Val1214Gly) c.3308T>G (p.Val1103Gly) c.3389T>G (p.Val1130Gly) n.882T>G c.3407T>G (p.Val1136Gly) n.3780T>G n.507T>G c.2576T>G (p.Val859Gly) c.2351T>G (p.Val784Gly) c.3446T>G (p.Val1149Gly) c.1419T>G c.742T>G (n.742T>G) n.4385T>G n.2986T>G c.3497T>G (p.Val1166Gly) c.3545T>G (p.Val1182Gly) c.3605T>G (p.Val1202Gly) c.3155T>G (p.Val1052Gly) c.1457T>G (p.Val486Gly) c.1274T>G (p.Val425Gly) c.3506T>G (p.Val1169Gly) c.3458T>G (p.Val1153Gly) c.3227T>G (p.Val1076Gly) c.3128T>G (p.Val1043Gly) c.2309T>G (p.Val770Gly) n.3860T>G
13	g.51939109A>G	CA388023984	ATP7B	c.1291T>C (n.1291T>C) c.2385T>C (n.2385T>C) c.3020T>C (p.Val1007Ala) c.3641T>C (p.Val1214Ala) c.3308T>C (p.Val1103Ala) c.3389T>C (p.Val1130Ala) n.882T>C c.3407T>C (p.Val1136Ala) n.3780T>C n.507T>C c.2576T>C (p.Val859Ala) c.2351T>C (p.Val784Ala) c.3446T>C (p.Val1149Ala) c.1419T>C c.742T>C (n.742T>C) n.4385T>C n.2986T>C c.3497T>C (p.Val1166Ala) c.3545T>C (p.Val1182Ala) c.3605T>C (p.Val1202Ala) c.3155T>C (p.Val1052Ala) c.1457T>C (p.Val486Ala) c.1274T>C (p.Val425Ala) c.3506T>C (p.Val1169Ala) c.3458T>C (p.Val1153Ala) c.3227T>C (p.Val1076Ala) c.3128T>C (p.Val1043Ala) c.2309T>C (p.Val770Ala) n.3860T>C
13	g.51939109A>T	CA388023986	ATP7B	c.1291T>A (n.1291T>A) c.2385T>A (n.2385T>A) c.3020T>A (p.Val1007Glu) c.3641T>A (p.Val1214Glu) c.3308T>A (p.Val1103Glu) c.3389T>A (p.Val1130Glu) n.882T>A c.3407T>A (p.Val1136Glu) n.3780T>A n.507T>A c.2576T>A (p.Val859Glu) c.2351T>A (p.Val784Glu) c.3446T>A (p.Val1149Glu) c.1419T>A c.742T>A (n.742T>A) n.4385T>A n.2986T>A c.3497T>A (p.Val1166Glu) c.3545T>A (p.Val1182Glu) c.3605T>A (p.Val1202Glu) c.3155T>A (p.Val1052Glu) c.1457T>A (p.Val486Glu) c.1274T>A (p.Val425Glu) c.3506T>A (p.Val1169Glu) c.3458T>A (p.Val1153Glu) c.3227T>A (p.Val1076Glu) c.3128T>A (p.Val1043Glu) c.2309T>A (p.Val770Glu) n.3860T>A
13	g.51939110C>A	CA388023987	ATP7B	c.1290G>T (n.1290G>T) c.2384G>T (n.2384G>T) c.3019G>T (p.Val1007Leu) c.3640G>T (p.Val1214Leu) c.3307G>T (p.Val1103Leu) c.3388G>T (p.Val1130Leu) n.881G>T c.3406G>T (p.Val1136Leu) n.3779G>T n.506G>T c.2575G>T (p.Val859Leu) c.2350G>T (p.Val784Leu) c.3445G>T (p.Val1149Leu) c.1418G>T c.741G>T (n.741G>T) n.4384G>T n.2985G>T c.3496G>T (p.Val1166Leu) c.3544G>T (p.Val1182Leu) c.3604G>T (p.Val1202Leu) c.3154G>T (p.Val1052Leu) c.1456G>T (p.Val486Leu) c.1273G>T (p.Val425Leu) c.3505G>T (p.Val1169Leu) c.3457G>T (p.Val1153Leu) c.3226G>T (p.Val1076Leu) c.3127G>T (p.Val1043Leu) c.2308G>T (p.Val770Leu) n.3859G>T
13	g.51939110C>G	CA388023990	ATP7B	c.1290G>C (n.1290G>C) c.2384G>C (n.2384G>C) c.3019G>C (p.Val1007Leu) c.3640G>C (p.Val1214Leu) c.3307G>C (p.Val1103Leu) c.3388G>C (p.Val1130Leu) n.881G>C c.3406G>C (p.Val1136Leu) n.3779G>C n.506G>C c.2575G>C (p.Val859Leu) c.2350G>C (p.Val784Leu) c.3445G>C (p.Val1149Leu) c.1418G>C c.741G>C (n.741G>C) n.4384G>C n.2985G>C c.3496G>C (p.Val1166Leu) c.3544G>C (p.Val1182Leu) c.3604G>C (p.Val1202Leu) c.3154G>C (p.Val1052Leu) c.1456G>C (p.Val486Leu) c.1273G>C (p.Val425Leu) c.3505G>C (p.Val1169Leu) c.3457G>C (p.Val1153Leu) c.3226G>C (p.Val1076Leu) c.3127G>C (p.Val1043Leu) c.2308G>C (p.Val770Leu) n.3859G>C
13	g.51939110C>T	CA388023994	ATP7B	c.1290G>A (n.1290G>A) c.2384G>A (n.2384G>A) c.3019G>A (p.Val1007Met) c.3640G>A (p.Val1214Met) c.3307G>A (p.Val1103Met) c.3388G>A (p.Val1130Met) n.881G>A c.3406G>A (p.Val1136Met) n.3779G>A n.506G>A c.2575G>A (p.Val859Met) c.2350G>A (p.Val784Met) c.3445G>A (p.Val1149Met) c.1418G>A c.741G>A (n.741G>A) n.4384G>A n.2985G>A c.3496G>A (p.Val1166Met) c.3544G>A (p.Val1182Met) c.3604G>A (p.Val1202Met) c.3154G>A (p.Val1052Met) c.1456G>A (p.Val486Met) c.1273G>A (p.Val425Met) c.3505G>A (p.Val1169Met) c.3457G>A (p.Val1153Met) c.3226G>A (p.Val1076Met) c.3127G>A (p.Val1043Met) c.2308G>A (p.Val770Met) n.3859G>A
13	g.51939111A=	CA2091556786	ATP7B	c.1289T= (n.1289T=) c.2383T= (n.2383T=) c.3018T= (p.Gly1006=) c.3639T= (p.Gly1213=) c.3306T= (p.Gly1102=) c.3387T= (p.Gly1129=) n.880T= c.3405T= (p.Gly1135=) n.3778T= n.505T= c.2574T= (p.Gly858=) c.2349T= (p.Gly783=) c.3444T= (p.Gly1148=) c.1417T= c.740T= (n.740T=) n.4383T= n.2984T= c.3495T= (p.Gly1165=) c.3543T= (p.Gly1181=) c.3603T= (p.Gly1201=) c.3153T= (p.Gly1051=) c.1455T= (p.Gly485=) c.1272T= (p.Gly424=) c.3504T= (p.Gly1168=) c.3456T= (p.Gly1152=) c.3225T= (p.Gly1075=) c.3126T= (p.Gly1042=) c.2307T= (p.Gly769=) n.3858T=
13	g.51939111A>C	CA483893757	ATP7B	c.1289T>G (n.1289T>G) c.2383T>G (n.2383T>G) c.3018T>G (p.Gly1006=) c.3639T>G (p.Gly1213=) c.3306T>G (p.Gly1102=) c.3387T>G (p.Gly1129=) n.880T>G c.3405T>G (p.Gly1135=) n.3778T>G n.505T>G c.2574T>G (p.Gly858=) c.2349T>G (p.Gly783=) c.3444T>G (p.Gly1148=) c.1417T>G c.740T>G (n.740T>G) n.4383T>G n.2984T>G c.3495T>G (p.Gly1165=) c.3543T>G (p.Gly1181=) c.3603T>G (p.Gly1201=) c.3153T>G (p.Gly1051=) c.1455T>G (p.Gly485=) c.1272T>G (p.Gly424=) c.3504T>G (p.Gly1168=) c.3456T>G (p.Gly1152=) c.3225T>G (p.Gly1075=) c.3126T>G (p.Gly1042=) c.2307T>G (p.Gly769=) n.3858T>G	ClinVar dbSNP gnomAD v4
13	g.51939111A>G	CA483893758	ATP7B	c.1289T>C (n.1289T>C) c.2383T>C (n.2383T>C) c.3018T>C (p.Gly1006=) c.3639T>C (p.Gly1213=) c.3306T>C (p.Gly1102=) c.3387T>C (p.Gly1129=) n.880T>C c.3405T>C (p.Gly1135=) n.3778T>C n.505T>C c.2574T>C (p.Gly858=) c.2349T>C (p.Gly783=) c.3444T>C (p.Gly1148=) c.1417T>C c.740T>C (n.740T>C) n.4383T>C n.2984T>C c.3495T>C (p.Gly1165=) c.3543T>C (p.Gly1181=) c.3603T>C (p.Gly1201=) c.3153T>C (p.Gly1051=) c.1455T>C (p.Gly485=) c.1272T>C (p.Gly424=) c.3504T>C (p.Gly1168=) c.3456T>C (p.Gly1152=) c.3225T>C (p.Gly1075=) c.3126T>C (p.Gly1042=) c.2307T>C (p.Gly769=) n.3858T>C
13	g.51939111A>T	CA483893759	ATP7B	c.1289T>A (n.1289T>A) c.2383T>A (n.2383T>A) c.3018T>A (p.Gly1006=) c.3639T>A (p.Gly1213=) c.3306T>A (p.Gly1102=) c.3387T>A (p.Gly1129=) n.880T>A c.3405T>A (p.Gly1135=) n.3778T>A n.505T>A c.2574T>A (p.Gly858=) c.2349T>A (p.Gly783=) c.3444T>A (p.Gly1148=) c.1417T>A c.740T>A (n.740T>A) n.4383T>A n.2984T>A c.3495T>A (p.Gly1165=) c.3543T>A (p.Gly1181=) c.3603T>A (p.Gly1201=) c.3153T>A (p.Gly1051=) c.1455T>A (p.Gly485=) c.1272T>A (p.Gly424=) c.3504T>A (p.Gly1168=) c.3456T>A (p.Gly1152=) c.3225T>A (p.Gly1075=) c.3126T>A (p.Gly1042=) c.2307T>A (p.Gly769=) n.3858T>A
13	g.51939112C>A	CA388023996	ATP7B	c.1288G>T (n.1288G>T) c.2382G>T (n.2382G>T) c.3017G>T (p.Gly1006Val) c.3638G>T (p.Gly1213Val) c.3305G>T (p.Gly1102Val) c.3386G>T (p.Gly1129Val) n.879G>T c.3404G>T (p.Gly1135Val) n.3777G>T n.504G>T c.2573G>T (p.Gly858Val) c.2348G>T (p.Gly783Val) c.3443G>T (p.Gly1148Val) c.1416G>T c.739G>T (n.739G>T) n.4382G>T n.2983G>T c.3494G>T (p.Gly1165Val) c.3542G>T (p.Gly1181Val) c.3602G>T (p.Gly1201Val) c.3152G>T (p.Gly1051Val) c.1454G>T (p.Gly485Val) c.1271G>T (p.Gly424Val) c.3503G>T (p.Gly1168Val) c.3455G>T (p.Gly1152Val) c.3224G>T (p.Gly1075Val) c.3125G>T (p.Gly1042Val) c.2306G>T (p.Gly769Val) n.3857G>T	ClinVar dbSNP
13	g.51939112C=	CA2091556789	ATP7B	c.1288G= (n.1288G=) c.2382G= (n.2382G=) c.3017G= (p.Gly1006=) c.3638G= (p.Gly1213=) c.3305G= (p.Gly1102=) c.3386G= (p.Gly1129=) n.879G= c.3404G= (p.Gly1135=) n.3777G= n.504G= c.2573G= (p.Gly858=) c.2348G= (p.Gly783=) c.3443G= (p.Gly1148=) c.1416G= c.739G= (n.739G=) n.4382G= n.2983G= c.3494G= (p.Gly1165=) c.3542G= (p.Gly1181=) c.3602G= (p.Gly1201=) c.3152G= (p.Gly1051=) c.1454G= (p.Gly485=) c.1271G= (p.Gly424=) c.3503G= (p.Gly1168=) c.3455G= (p.Gly1152=) c.3224G= (p.Gly1075=) c.3125G= (p.Gly1042=) c.2306G= (p.Gly769=) n.3857G=
13	g.51939112C>G	CA388024003	ATP7B	c.1288G>C (n.1288G>C) c.2382G>C (n.2382G>C) c.3017G>C (p.Gly1006Ala) c.3638G>C (p.Gly1213Ala) c.3305G>C (p.Gly1102Ala) c.3386G>C (p.Gly1129Ala) n.879G>C c.3404G>C (p.Gly1135Ala) n.3777G>C n.504G>C c.2573G>C (p.Gly858Ala) c.2348G>C (p.Gly783Ala) c.3443G>C (p.Gly1148Ala) c.1416G>C c.739G>C (n.739G>C) n.4382G>C n.2983G>C c.3494G>C (p.Gly1165Ala) c.3542G>C (p.Gly1181Ala) c.3602G>C (p.Gly1201Ala) c.3152G>C (p.Gly1051Ala) c.1454G>C (p.Gly485Ala) c.1271G>C (p.Gly424Ala) c.3503G>C (p.Gly1168Ala) c.3455G>C (p.Gly1152Ala) c.3224G>C (p.Gly1075Ala) c.3125G>C (p.Gly1042Ala) c.2306G>C (p.Gly769Ala) n.3857G>C
13	g.51939112C>T	CA388024006	ATP7B	c.1288G>A (n.1288G>A) c.2382G>A (n.2382G>A) c.3017G>A (p.Gly1006Asp) c.3638G>A (p.Gly1213Asp) c.3305G>A (p.Gly1102Asp) c.3386G>A (p.Gly1129Asp) n.879G>A c.3404G>A (p.Gly1135Asp) n.3777G>A n.504G>A c.2573G>A (p.Gly858Asp) c.2348G>A (p.Gly783Asp) c.3443G>A (p.Gly1148Asp) c.1416G>A c.739G>A (n.739G>A) n.4382G>A n.2983G>A c.3494G>A (p.Gly1165Asp) c.3542G>A (p.Gly1181Asp) c.3602G>A (p.Gly1201Asp) c.3152G>A (p.Gly1051Asp) c.1454G>A (p.Gly485Asp) c.1271G>A (p.Gly424Asp) c.3503G>A (p.Gly1168Asp) c.3455G>A (p.Gly1152Asp) c.3224G>A (p.Gly1075Asp) c.3125G>A (p.Gly1042Asp) c.2306G>A (p.Gly769Asp) n.3857G>A	gnomAD v4
13	g.51939113C>A	CA388024009	ATP7B	c.1287G>T (n.1287G>T) c.2381G>T (n.2381G>T) c.3016G>T (p.Gly1006Cys) c.3637G>T (p.Gly1213Cys) c.3304G>T (p.Gly1102Cys) c.3385G>T (p.Gly1129Cys) n.878G>T c.3403G>T (p.Gly1135Cys) n.3776G>T n.503G>T c.2572G>T (p.Gly858Cys) c.2347G>T (p.Gly783Cys) c.3442G>T (p.Gly1148Cys) c.1415G>T c.738G>T (n.738G>T) n.4381G>T n.2982G>T c.3493G>T (p.Gly1165Cys) c.3541G>T (p.Gly1181Cys) c.3601G>T (p.Gly1201Cys) c.3151G>T (p.Gly1051Cys) c.1453G>T (p.Gly485Cys) c.1270G>T (p.Gly424Cys) c.3502G>T (p.Gly1168Cys) c.3454G>T (p.Gly1152Cys) c.3223G>T (p.Gly1075Cys) c.3124G>T (p.Gly1042Cys) c.2305G>T (p.Gly769Cys) n.3856G>T
13	g.51939113C=	CA2091556795	ATP7B	c.1287G= (n.1287G=) c.2381G= (n.2381G=) c.3016G= (p.Gly1006=) c.3637G= (p.Gly1213=) c.3304G= (p.Gly1102=) c.3385G= (p.Gly1129=) n.878G= c.3403G= (p.Gly1135=) n.3776G= n.503G= c.2572G= (p.Gly858=) c.2347G= (p.Gly783=) c.3442G= (p.Gly1148=) c.1415G= c.738G= (n.738G=) n.4381G= n.2982G= c.3493G= (p.Gly1165=) c.3541G= (p.Gly1181=) c.3601G= (p.Gly1201=) c.3151G= (p.Gly1051=) c.1453G= (p.Gly485=) c.1270G= (p.Gly424=) c.3502G= (p.Gly1168=) c.3454G= (p.Gly1152=) c.3223G= (p.Gly1075=) c.3124G= (p.Gly1042=) c.2305G= (p.Gly769=) n.3856G=
13	g.51939113C>G	CA388024011	ATP7B	c.1287G>C (n.1287G>C) c.2381G>C (n.2381G>C) c.3016G>C (p.Gly1006Arg) c.3637G>C (p.Gly1213Arg) c.3304G>C (p.Gly1102Arg) c.3385G>C (p.Gly1129Arg) n.878G>C c.3403G>C (p.Gly1135Arg) n.3776G>C n.503G>C c.2572G>C (p.Gly858Arg) c.2347G>C (p.Gly783Arg) c.3442G>C (p.Gly1148Arg) c.1415G>C c.738G>C (n.738G>C) n.4381G>C n.2982G>C c.3493G>C (p.Gly1165Arg) c.3541G>C (p.Gly1181Arg) c.3601G>C (p.Gly1201Arg) c.3151G>C (p.Gly1051Arg) c.1453G>C (p.Gly485Arg) c.1270G>C (p.Gly424Arg) c.3502G>C (p.Gly1168Arg) c.3454G>C (p.Gly1152Arg) c.3223G>C (p.Gly1075Arg) c.3124G>C (p.Gly1042Arg) c.2305G>C (p.Gly769Arg) n.3856G>C
13	g.51939113C>T	CA6988617	ATP7B	c.1287G>A (n.1287G>A) c.2381G>A (n.2381G>A) c.3016G>A (p.Gly1006Ser) c.3637G>A (p.Gly1213Ser) c.3304G>A (p.Gly1102Ser) c.3385G>A (p.Gly1129Ser) n.878G>A c.3403G>A (p.Gly1135Ser) n.3776G>A n.503G>A c.2572G>A (p.Gly858Ser) c.2347G>A (p.Gly783Ser) c.3442G>A (p.Gly1148Ser) c.1415G>A c.738G>A (n.738G>A) n.4381G>A n.2982G>A c.3493G>A (p.Gly1165Ser) c.3541G>A (p.Gly1181Ser) c.3601G>A (p.Gly1201Ser) c.3151G>A (p.Gly1051Ser) c.1453G>A (p.Gly485Ser) c.1270G>A (p.Gly424Ser) c.3502G>A (p.Gly1168Ser) c.3454G>A (p.Gly1152Ser) c.3223G>A (p.Gly1075Ser) c.3124G>A (p.Gly1042Ser) c.2305G>A (p.Gly769Ser) n.3856G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13	g.51939114C>A	CA388024024	ATP7B	c.1286G>T (n.1286G>T) c.2380G>T (n.2380G>T) c.3015G>T (p.Met1005Ile) c.3636G>T (p.Met1212Ile) c.3303G>T (p.Met1101Ile) c.3384G>T (p.Met1128Ile) n.877G>T c.3402G>T (p.Met1134Ile) n.3775G>T n.502G>T c.2571G>T (p.Met857Ile) c.2346G>T (p.Met782Ile) c.3441G>T (p.Met1147Ile) c.1414G>T c.737G>T (n.737G>T) n.4380G>T n.2981G>T c.3492G>T (p.Met1164Ile) c.3540G>T (p.Met1180Ile) c.3600G>T (p.Met1200Ile) c.3150G>T (p.Met1050Ile) c.1452G>T (p.Met484Ile) c.1269G>T (p.Met423Ile) c.3501G>T (p.Met1167Ile) c.3453G>T (p.Met1151Ile) c.3222G>T (p.Met1074Ile) c.3123G>T (p.Met1041Ile) c.2304G>T (p.Met768Ile) n.3855G>T
13	g.51939114C>G	CA388024021	ATP7B	c.1286G>C (n.1286G>C) c.2380G>C (n.2380G>C) c.3015G>C (p.Met1005Ile) c.3636G>C (p.Met1212Ile) c.3303G>C (p.Met1101Ile) c.3384G>C (p.Met1128Ile) n.877G>C c.3402G>C (p.Met1134Ile) n.3775G>C n.502G>C c.2571G>C (p.Met857Ile) c.2346G>C (p.Met782Ile) c.3441G>C (p.Met1147Ile) c.1414G>C c.737G>C (n.737G>C) n.4380G>C n.2981G>C c.3492G>C (p.Met1164Ile) c.3540G>C (p.Met1180Ile) c.3600G>C (p.Met1200Ile) c.3150G>C (p.Met1050Ile) c.1452G>C (p.Met484Ile) c.1269G>C (p.Met423Ile) c.3501G>C (p.Met1167Ile) c.3453G>C (p.Met1151Ile) c.3222G>C (p.Met1074Ile) c.3123G>C (p.Met1041Ile) c.2304G>C (p.Met768Ile) n.3855G>C
13	g.51939114C>T	CA388024022	ATP7B	c.1286G>A (n.1286G>A) c.2380G>A (n.2380G>A) c.3015G>A (p.Met1005Ile) c.3636G>A (p.Met1212Ile) c.3303G>A (p.Met1101Ile) c.3384G>A (p.Met1128Ile) n.877G>A c.3402G>A (p.Met1134Ile) n.3775G>A n.502G>A c.2571G>A (p.Met857Ile) c.2346G>A (p.Met782Ile) c.3441G>A (p.Met1147Ile) c.1414G>A c.737G>A (n.737G>A) n.4380G>A n.2981G>A c.3492G>A (p.Met1164Ile) c.3540G>A (p.Met1180Ile) c.3600G>A (p.Met1200Ile) c.3150G>A (p.Met1050Ile) c.1452G>A (p.Met484Ile) c.1269G>A (p.Met423Ile) c.3501G>A (p.Met1167Ile) c.3453G>A (p.Met1151Ile) c.3222G>A (p.Met1074Ile) c.3123G>A (p.Met1041Ile) c.2304G>A (p.Met768Ile) n.3855G>A
13	g.51939115A>C	CA388024038	ATP7B	c.1285T>G (n.1285T>G) c.2379T>G (n.2379T>G) c.3014T>G (p.Met1005Arg) c.3635T>G (p.Met1212Arg) c.3302T>G (p.Met1101Arg) c.3383T>G (p.Met1128Arg) n.876T>G c.3401T>G (p.Met1134Arg) n.3774T>G n.501T>G c.2570T>G (p.Met857Arg) c.2345T>G (p.Met782Arg) c.3440T>G (p.Met1147Arg) c.1413T>G c.736T>G (n.736T>G) n.4379T>G n.2980T>G c.3491T>G (p.Met1164Arg) c.3539T>G (p.Met1180Arg) c.3599T>G (p.Met1200Arg) c.3149T>G (p.Met1050Arg) c.1451T>G (p.Met484Arg) c.1268T>G (p.Met423Arg) c.3500T>G (p.Met1167Arg) c.3452T>G (p.Met1151Arg) c.3221T>G (p.Met1074Arg) c.3122T>G (p.Met1041Arg) c.2303T>G (p.Met768Arg) n.3854T>G
13	g.51939115A>G	CA388024040	ATP7B	c.1285T>C (n.1285T>C) c.2379T>C (n.2379T>C) c.3014T>C (p.Met1005Thr) c.3635T>C (p.Met1212Thr) c.3302T>C (p.Met1101Thr) c.3383T>C (p.Met1128Thr) n.876T>C c.3401T>C (p.Met1134Thr) n.3774T>C n.501T>C c.2570T>C (p.Met857Thr) c.2345T>C (p.Met782Thr) c.3440T>C (p.Met1147Thr) c.1413T>C c.736T>C (n.736T>C) n.4379T>C n.2980T>C c.3491T>C (p.Met1164Thr) c.3539T>C (p.Met1180Thr) c.3599T>C (p.Met1200Thr) c.3149T>C (p.Met1050Thr) c.1451T>C (p.Met484Thr) c.1268T>C (p.Met423Thr) c.3500T>C (p.Met1167Thr) c.3452T>C (p.Met1151Thr) c.3221T>C (p.Met1074Thr) c.3122T>C (p.Met1041Thr) c.2303T>C (p.Met768Thr) n.3854T>C
13	g.51939115A>T	CA388024045	ATP7B	c.1285T>A (n.1285T>A) c.2379T>A (n.2379T>A) c.3014T>A (p.Met1005Lys) c.3635T>A (p.Met1212Lys) c.3302T>A (p.Met1101Lys) c.3383T>A (p.Met1128Lys) n.876T>A c.3401T>A (p.Met1134Lys) n.3774T>A n.501T>A c.2570T>A (p.Met857Lys) c.2345T>A (p.Met782Lys) c.3440T>A (p.Met1147Lys) c.1413T>A c.736T>A (n.736T>A) n.4379T>A n.2980T>A c.3491T>A (p.Met1164Lys) c.3539T>A (p.Met1180Lys) c.3599T>A (p.Met1200Lys) c.3149T>A (p.Met1050Lys) c.1451T>A (p.Met484Lys) c.1268T>A (p.Met423Lys) c.3500T>A (p.Met1167Lys) c.3452T>A (p.Met1151Lys) c.3221T>A (p.Met1074Lys) c.3122T>A (p.Met1041Lys) c.2303T>A (p.Met768Lys) n.3854T>A
13	g.51939116T>A	CA388024047	ATP7B	c.1284A>T (n.1284A>T) c.2378A>T (n.2378A>T) c.3013A>T (p.Met1005Leu) c.3634A>T (p.Met1212Leu) c.3301A>T (p.Met1101Leu) c.3382A>T (p.Met1128Leu) n.875A>T c.3400A>T (p.Met1134Leu) n.3773A>T n.500A>T c.2569A>T (p.Met857Leu) c.2344A>T (p.Met782Leu) c.3439A>T (p.Met1147Leu) c.1412A>T c.735A>T (n.735A>T) n.4378A>T n.2979A>T c.3490A>T (p.Met1164Leu) c.3538A>T (p.Met1180Leu) c.3598A>T (p.Met1200Leu) c.3148A>T (p.Met1050Leu) c.1450A>T (p.Met484Leu) c.1267A>T (p.Met423Leu) c.3499A>T (p.Met1167Leu) c.3451A>T (p.Met1151Leu) c.3220A>T (p.Met1074Leu) c.3121A>T (p.Met1041Leu) c.2302A>T (p.Met768Leu) n.3853A>T
13	g.51939116T>C	CA388024050	ATP7B	c.1284A>G (n.1284A>G) c.2378A>G (n.2378A>G) c.3013A>G (p.Met1005Val) c.3634A>G (p.Met1212Val) c.3301A>G (p.Met1101Val) c.3382A>G (p.Met1128Val) n.875A>G c.3400A>G (p.Met1134Val) n.3773A>G n.500A>G c.2569A>G (p.Met857Val) c.2344A>G (p.Met782Val) c.3439A>G (p.Met1147Val) c.1412A>G c.735A>G (n.735A>G) n.4378A>G n.2979A>G c.3490A>G (p.Met1164Val) c.3538A>G (p.Met1180Val) c.3598A>G (p.Met1200Val) c.3148A>G (p.Met1050Val) c.1450A>G (p.Met484Val) c.1267A>G (p.Met423Val) c.3499A>G (p.Met1167Val) c.3451A>G (p.Met1151Val) c.3220A>G (p.Met1074Val) c.3121A>G (p.Met1041Val) c.2302A>G (p.Met768Val) n.3853A>G	gnomAD v4
13	g.51939116T>G	CA388024060	ATP7B	c.1284A>C (n.1284A>C) c.2378A>C (n.2378A>C) c.3013A>C (p.Met1005Leu) c.3634A>C (p.Met1212Leu) c.3301A>C (p.Met1101Leu) c.3382A>C (p.Met1128Leu) n.875A>C c.3400A>C (p.Met1134Leu) n.3773A>C n.500A>C c.2569A>C (p.Met857Leu) c.2344A>C (p.Met782Leu) c.3439A>C (p.Met1147Leu) c.1412A>C c.735A>C (n.735A>C) n.4378A>C n.2979A>C c.3490A>C (p.Met1164Leu) c.3538A>C (p.Met1180Leu) c.3598A>C (p.Met1200Leu) c.3148A>C (p.Met1050Leu) c.1450A>C (p.Met484Leu) c.1267A>C (p.Met423Leu) c.3499A>C (p.Met1167Leu) c.3451A>C (p.Met1151Leu) c.3220A>C (p.Met1074Leu) c.3121A>C (p.Met1041Leu) c.2302A>C (p.Met768Leu) n.3853A>C
13	g.51939117G>A	CA483893763	ATP7B	c.1283C>T (n.1283C>T) c.2377C>T (n.2377C>T) c.3012C>T (p.Ser1004=) c.3633C>T (p.Ser1211=) c.3300C>T (p.Ser1100=) c.3381C>T (p.Ser1127=) n.874C>T c.3399C>T (p.Ser1133=) n.3772C>T n.499C>T c.2568C>T (p.Ser856=) c.2343C>T (p.Ser781=) c.3438C>T (p.Ser1146=) c.1411C>T c.734C>T (n.734C>T) n.4377C>T n.2978C>T c.3489C>T (p.Ser1163=) c.3537C>T (p.Ser1179=) c.3597C>T (p.Ser1199=) c.3147C>T (p.Ser1049=) c.1449C>T (p.Ser483=) c.1266C>T (p.Ser422=) c.3498C>T (p.Ser1166=) c.3450C>T (p.Ser1150=) c.3219C>T (p.Ser1073=) c.3120C>T (p.Ser1040=) c.2301C>T (p.Ser767=) n.3852C>T
13	g.51939117G>C	CA388024063	ATP7B	c.1283C>G (n.1283C>G) c.2377C>G (n.2377C>G) c.3012C>G (p.Ser1004Arg) c.3633C>G (p.Ser1211Arg) c.3300C>G (p.Ser1100Arg) c.3381C>G (p.Ser1127Arg) n.874C>G c.3399C>G (p.Ser1133Arg) n.3772C>G n.499C>G c.2568C>G (p.Ser856Arg) c.2343C>G (p.Ser781Arg) c.3438C>G (p.Ser1146Arg) c.1411C>G c.734C>G (n.734C>G) n.4377C>G n.2978C>G c.3489C>G (p.Ser1163Arg) c.3537C>G (p.Ser1179Arg) c.3597C>G (p.Ser1199Arg) c.3147C>G (p.Ser1049Arg) c.1449C>G (p.Ser483Arg) c.1266C>G (p.Ser422Arg) c.3498C>G (p.Ser1166Arg) c.3450C>G (p.Ser1150Arg) c.3219C>G (p.Ser1073Arg) c.3120C>G (p.Ser1040Arg) c.2301C>G (p.Ser767Arg) n.3852C>G	gnomAD v4
13	g.51939117G>T	CA388024065	ATP7B	c.1283C>A (n.1283C>A) c.2377C>A (n.2377C>A) c.3012C>A (p.Ser1004Arg) c.3633C>A (p.Ser1211Arg) c.3300C>A (p.Ser1100Arg) c.3381C>A (p.Ser1127Arg) n.874C>A c.3399C>A (p.Ser1133Arg) n.3772C>A n.499C>A c.2568C>A (p.Ser856Arg) c.2343C>A (p.Ser781Arg) c.3438C>A (p.Ser1146Arg) c.1411C>A c.734C>A (n.734C>A) n.4377C>A n.2978C>A c.3489C>A (p.Ser1163Arg) c.3537C>A (p.Ser1179Arg) c.3597C>A (p.Ser1199Arg) c.3147C>A (p.Ser1049Arg) c.1449C>A (p.Ser483Arg) c.1266C>A (p.Ser422Arg) c.3498C>A (p.Ser1166Arg) c.3450C>A (p.Ser1150Arg) c.3219C>A (p.Ser1073Arg) c.3120C>A (p.Ser1040Arg) c.2301C>A (p.Ser767Arg) n.3852C>A
13	g.51939118C>A	CA388024068	ATP7B	c.1282G>T (n.1282G>T) c.2376G>T (n.2376G>T) c.3011G>T (p.Ser1004Ile) c.3632G>T (p.Ser1211Ile) c.3299G>T (p.Ser1100Ile) c.3380G>T (p.Ser1127Ile) n.873G>T c.3398G>T (p.Ser1133Ile) n.3771G>T n.498G>T c.2567G>T (p.Ser856Ile) c.2342G>T (p.Ser781Ile) c.3437G>T (p.Ser1146Ile) c.1410G>T c.733G>T (n.733G>T) n.4376G>T n.2977G>T c.3488G>T (p.Ser1163Ile) c.3536G>T (p.Ser1179Ile) c.3596G>T (p.Ser1199Ile) c.3146G>T (p.Ser1049Ile) c.1448G>T (p.Ser483Ile) c.1265G>T (p.Ser422Ile) c.3497G>T (p.Ser1166Ile) c.3449G>T (p.Ser1150Ile) c.3218G>T (p.Ser1073Ile) c.3119G>T (p.Ser1040Ile) c.2300G>T (p.Ser767Ile) n.3851G>T
13	g.51939118C=	CA2091556802	ATP7B	c.1282G= (n.1282G=) c.2376G= (n.2376G=) c.3011G= (p.Ser1004=) c.3632G= (p.Ser1211=) c.3299G= (p.Ser1100=) c.3380G= (p.Ser1127=) n.873G= c.3398G= (p.Ser1133=) n.3771G= n.498G= c.2567G= (p.Ser856=) c.2342G= (p.Ser781=) c.3437G= (p.Ser1146=) c.1410G= c.733G= (n.733G=) n.4376G= n.2977G= c.3488G= (p.Ser1163=) c.3536G= (p.Ser1179=) c.3596G= (p.Ser1199=) c.3146G= (p.Ser1049=) c.1448G= (p.Ser483=) c.1265G= (p.Ser422=) c.3497G= (p.Ser1166=) c.3449G= (p.Ser1150=) c.3218G= (p.Ser1073=) c.3119G= (p.Ser1040=) c.2300G= (p.Ser767=) n.3851G=
13	g.51939118C>G	CA388024073	ATP7B	c.1282G>C (n.1282G>C) c.2376G>C (n.2376G>C) c.3011G>C (p.Ser1004Thr) c.3632G>C (p.Ser1211Thr) c.3299G>C (p.Ser1100Thr) c.3380G>C (p.Ser1127Thr) n.873G>C c.3398G>C (p.Ser1133Thr) n.3771G>C n.498G>C c.2567G>C (p.Ser856Thr) c.2342G>C (p.Ser781Thr) c.3437G>C (p.Ser1146Thr) c.1410G>C c.733G>C (n.733G>C) n.4376G>C n.2977G>C c.3488G>C (p.Ser1163Thr) c.3536G>C (p.Ser1179Thr) c.3596G>C (p.Ser1199Thr) c.3146G>C (p.Ser1049Thr) c.1448G>C (p.Ser483Thr) c.1265G>C (p.Ser422Thr) c.3497G>C (p.Ser1166Thr) c.3449G>C (p.Ser1150Thr) c.3218G>C (p.Ser1073Thr) c.3119G>C (p.Ser1040Thr) c.2300G>C (p.Ser767Thr) n.3851G>C	dbSNP gnomAD v3 gnomAD v4
13	g.51939118C>T	CA388024085	ATP7B	c.1282G>A (n.1282G>A) c.2376G>A (n.2376G>A) c.3011G>A (p.Ser1004Asn) c.3632G>A (p.Ser1211Asn) c.3299G>A (p.Ser1100Asn) c.3380G>A (p.Ser1127Asn) n.873G>A c.3398G>A (p.Ser1133Asn) n.3771G>A n.498G>A c.2567G>A (p.Ser856Asn) c.2342G>A (p.Ser781Asn) c.3437G>A (p.Ser1146Asn) c.1410G>A c.733G>A (n.733G>A) n.4376G>A n.2977G>A c.3488G>A (p.Ser1163Asn) c.3536G>A (p.Ser1179Asn) c.3596G>A (p.Ser1199Asn) c.3146G>A (p.Ser1049Asn) c.1448G>A (p.Ser483Asn) c.1265G>A (p.Ser422Asn) c.3497G>A (p.Ser1166Asn) c.3449G>A (p.Ser1150Asn) c.3218G>A (p.Ser1073Asn) c.3119G>A (p.Ser1040Asn) c.2300G>A (p.Ser767Asn) n.3851G>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.51939118_51939123del	CA2499222488	ATP7B	c.1277_1282del (n.1277_1282del) c.2371_2376del (n.2371_2376del) c.3006_3011del (p.Gln1003_Ser1004del) c.3627_3632del (p.Gln1210_Ser1211del) c.3294_3299del (p.Gln1099_Ser1100del) c.3375_3380del (p.Gln1126_Ser1127del) n.868_873del c.3393_3398del (p.Gln1132_Ser1133del) n.3766_3771del n.493_498del c.2562_2567del (p.Gln855_Ser856del) c.2337_2342del (p.Gln780_Ser781del) c.3432_3437del (p.Gln1145_Ser1146del) c.1405_1410del c.728_733del (n.728_733del) n.4371_4376del n.2972_2977del c.3483_3488del (p.Gln1162_Ser1163del) c.3531_3536del (p.Gln1178_Ser1179del) c.3591_3596del (p.Gln1198_Ser1199del) c.3141_3146del (p.Gln1048_Ser1049del) c.1443_1448del (p.Gln482_Ser483del) c.1260_1265del (p.Gln421_Ser422del) c.3492_3497del (p.Gln1165_Ser1166del) c.3444_3449del (p.Gln1149_Ser1150del) c.3213_3218del (p.Gln1072_Ser1073del) c.3114_3119del (p.Gln1039_Ser1040del) c.2295_2300del (p.Gln766_Ser767del) n.3846_3851del	ClinVar dbSNP
13	g.51939119T>A	CA388024108	ATP7B	c.1281A>T (n.1281A>T) c.2375A>T (n.2375A>T) c.3010A>T (p.Ser1004Cys) c.3631A>T (p.Ser1211Cys) c.3298A>T (p.Ser1100Cys) c.3379A>T (p.Ser1127Cys) n.872A>T c.3397A>T (p.Ser1133Cys) n.3770A>T n.497A>T c.2566A>T (p.Ser856Cys) c.2341A>T (p.Ser781Cys) c.3436A>T (p.Ser1146Cys) c.1409A>T c.732A>T (n.732A>T) n.4375A>T n.2976A>T c.3487A>T (p.Ser1163Cys) c.3535A>T (p.Ser1179Cys) c.3595A>T (p.Ser1199Cys) c.3145A>T (p.Ser1049Cys) c.1447A>T (p.Ser483Cys) c.1264A>T (p.Ser422Cys) c.3496A>T (p.Ser1166Cys) c.3448A>T (p.Ser1150Cys) c.3217A>T (p.Ser1073Cys) c.3118A>T (p.Ser1040Cys) c.2299A>T (p.Ser767Cys) n.3850A>T
13	g.51939119T>C	CA388024094	ATP7B	c.1281A>G (n.1281A>G) c.2375A>G (n.2375A>G) c.3010A>G (p.Ser1004Gly) c.3631A>G (p.Ser1211Gly) c.3298A>G (p.Ser1100Gly) c.3379A>G (p.Ser1127Gly) n.872A>G c.3397A>G (p.Ser1133Gly) n.3770A>G n.497A>G c.2566A>G (p.Ser856Gly) c.2341A>G (p.Ser781Gly) c.3436A>G (p.Ser1146Gly) c.1409A>G c.732A>G (n.732A>G) n.4375A>G n.2976A>G c.3487A>G (p.Ser1163Gly) c.3535A>G (p.Ser1179Gly) c.3595A>G (p.Ser1199Gly) c.3145A>G (p.Ser1049Gly) c.1447A>G (p.Ser483Gly) c.1264A>G (p.Ser422Gly) c.3496A>G (p.Ser1166Gly) c.3448A>G (p.Ser1150Gly) c.3217A>G (p.Ser1073Gly) c.3118A>G (p.Ser1040Gly) c.2299A>G (p.Ser767Gly) n.3850A>G
13	g.51939119T>G	CA388024091	ATP7B	c.1281A>C (n.1281A>C) c.2375A>C (n.2375A>C) c.3010A>C (p.Ser1004Arg) c.3631A>C (p.Ser1211Arg) c.3298A>C (p.Ser1100Arg) c.3379A>C (p.Ser1127Arg) n.872A>C c.3397A>C (p.Ser1133Arg) n.3770A>C n.497A>C c.2566A>C (p.Ser856Arg) c.2341A>C (p.Ser781Arg) c.3436A>C (p.Ser1146Arg) c.1409A>C c.732A>C (n.732A>C) n.4375A>C n.2976A>C c.3487A>C (p.Ser1163Arg) c.3535A>C (p.Ser1179Arg) c.3595A>C (p.Ser1199Arg) c.3145A>C (p.Ser1049Arg) c.1447A>C (p.Ser483Arg) c.1264A>C (p.Ser422Arg) c.3496A>C (p.Ser1166Arg) c.3448A>C (p.Ser1150Arg) c.3217A>C (p.Ser1073Arg) c.3118A>C (p.Ser1040Arg) c.2299A>C (p.Ser767Arg) n.3850A>C
13	g.51939120C>A	CA388024116	ATP7B	c.1280G>T (n.1280G>T) c.2374G>T (n.2374G>T) c.3009G>T (p.Gln1003His) c.3630G>T (p.Gln1210His) c.3297G>T (p.Gln1099His) c.3378G>T (p.Gln1126His) n.871G>T c.3396G>T (p.Gln1132His) n.3769G>T n.496G>T c.2565G>T (p.Gln855His) c.2340G>T (p.Gln780His) c.3435G>T (p.Gln1145His) c.1408G>T c.731G>T (n.731G>T) n.4374G>T n.2975G>T c.3486G>T (p.Gln1162His) c.3534G>T (p.Gln1178His) c.3594G>T (p.Gln1198His) c.3144G>T (p.Gln1048His) c.1446G>T (p.Gln482His) c.1263G>T (p.Gln421His) c.3495G>T (p.Gln1165His) c.3447G>T (p.Gln1149His) c.3216G>T (p.Gln1072His) c.3117G>T (p.Gln1039His) c.2298G>T (p.Gln766His) n.3849G>T
13	g.51939120C>G	CA388024120	ATP7B	c.1280G>C (n.1280G>C) c.2374G>C (n.2374G>C) c.3009G>C (p.Gln1003His) c.3630G>C (p.Gln1210His) c.3297G>C (p.Gln1099His) c.3378G>C (p.Gln1126His) n.871G>C c.3396G>C (p.Gln1132His) n.3769G>C n.496G>C c.2565G>C (p.Gln855His) c.2340G>C (p.Gln780His) c.3435G>C (p.Gln1145His) c.1408G>C c.731G>C (n.731G>C) n.4374G>C n.2975G>C c.3486G>C (p.Gln1162His) c.3534G>C (p.Gln1178His) c.3594G>C (p.Gln1198His) c.3144G>C (p.Gln1048His) c.1446G>C (p.Gln482His) c.1263G>C (p.Gln421His) c.3495G>C (p.Gln1165His) c.3447G>C (p.Gln1149His) c.3216G>C (p.Gln1072His) c.3117G>C (p.Gln1039His) c.2298G>C (p.Gln766His) n.3849G>C	gnomAD v4
13	g.51939120C>T	CA483893765	ATP7B	c.1280G>A (n.1280G>A) c.2374G>A (n.2374G>A) c.3009G>A (p.Gln1003=) c.3630G>A (p.Gln1210=) c.3297G>A (p.Gln1099=) c.3378G>A (p.Gln1126=) n.871G>A c.3396G>A (p.Gln1132=) n.3769G>A n.496G>A c.2565G>A (p.Gln855=) c.2340G>A (p.Gln780=) c.3435G>A (p.Gln1145=) c.1408G>A c.731G>A (n.731G>A) n.4374G>A n.2975G>A c.3486G>A (p.Gln1162=) c.3534G>A (p.Gln1178=) c.3594G>A (p.Gln1198=) c.3144G>A (p.Gln1048=) c.1446G>A (p.Gln482=) c.1263G>A (p.Gln421=) c.3495G>A (p.Gln1165=) c.3447G>A (p.Gln1149=) c.3216G>A (p.Gln1072=) c.3117G>A (p.Gln1039=) c.2298G>A (p.Gln766=) n.3849G>A	dbSNP
13	g.51939120_51939123del	CA2695218776	ATP7B	c.1277_1280del (n.1277_1280del) c.2371_2374del (n.2371_2374del) c.3006_3009del (p.Gln1003AlafsTer8) c.3627_3630del (p.Gln1210AlafsTer8) c.3294_3297del (p.Gln1099AlafsTer8) c.3375_3378del (p.Gln1126AlafsTer8) n.868_871del c.3393_3396del (p.Gln1132AlafsTer8) n.3766_3769del n.493_496del c.2562_2565del (p.Gln855AlafsTer8) c.2337_2340del (p.Gln780AlafsTer8) c.3432_3435del (p.Gln1145AlafsTer8) c.1405_1408del c.728_731del (n.728_731del) n.4371_4374del n.2972_2975del c.3483_3486del (p.Gln1162AlafsTer8) c.3531_3534del (p.Gln1178AlafsTer8) c.3591_3594del (p.Gln1198AlafsTer8) c.3141_3144del (p.Gln1048AlafsTer8) c.1443_1446del (p.Gln482AlafsTer8) c.1260_1263del (p.Gln421AlafsTer8) c.3492_3495del (p.Gln1165AlafsTer8) c.3444_3447del (p.Gln1149AlafsTer8) c.3213_3216del (p.Gln1072AlafsTer8) c.3114_3117del (p.Gln1039AlafsTer8) c.2295_2298del (p.Gln766AlafsTer8) n.3846_3849del
13	g.51939121T>A	CA388024125	ATP7B	c.1279A>T (n.1279A>T) c.2373A>T (n.2373A>T) c.3008A>T (p.Gln1003Leu) c.3629A>T (p.Gln1210Leu) c.3296A>T (p.Gln1099Leu) c.3377A>T (p.Gln1126Leu) n.870A>T c.3395A>T (p.Gln1132Leu) n.3768A>T n.495A>T c.2564A>T (p.Gln855Leu) c.2339A>T (p.Gln780Leu) c.3434A>T (p.Gln1145Leu) c.1407A>T c.730A>T (n.730A>T) n.4373A>T n.2974A>T c.3485A>T (p.Gln1162Leu) c.3533A>T (p.Gln1178Leu) c.3593A>T (p.Gln1198Leu) c.3143A>T (p.Gln1048Leu) c.1445A>T (p.Gln482Leu) c.1262A>T (p.Gln421Leu) c.3494A>T (p.Gln1165Leu) c.3446A>T (p.Gln1149Leu) c.3215A>T (p.Gln1072Leu) c.3116A>T (p.Gln1039Leu) c.2297A>T (p.Gln766Leu) n.3848A>T
13	g.51939121T>C	CA388024128	ATP7B	c.1279A>G (n.1279A>G) c.2373A>G (n.2373A>G) c.3008A>G (p.Gln1003Arg) c.3629A>G (p.Gln1210Arg) c.3296A>G (p.Gln1099Arg) c.3377A>G (p.Gln1126Arg) n.870A>G c.3395A>G (p.Gln1132Arg) n.3768A>G n.495A>G c.2564A>G (p.Gln855Arg) c.2339A>G (p.Gln780Arg) c.3434A>G (p.Gln1145Arg) c.1407A>G c.730A>G (n.730A>G) n.4373A>G n.2974A>G c.3485A>G (p.Gln1162Arg) c.3533A>G (p.Gln1178Arg) c.3593A>G (p.Gln1198Arg) c.3143A>G (p.Gln1048Arg) c.1445A>G (p.Gln482Arg) c.1262A>G (p.Gln421Arg) c.3494A>G (p.Gln1165Arg) c.3446A>G (p.Gln1149Arg) c.3215A>G (p.Gln1072Arg) c.3116A>G (p.Gln1039Arg) c.2297A>G (p.Gln766Arg) n.3848A>G
13	g.51939121T>G	CA388024130	ATP7B	c.1279A>C (n.1279A>C) c.2373A>C (n.2373A>C) c.3008A>C (p.Gln1003Pro) c.3629A>C (p.Gln1210Pro) c.3296A>C (p.Gln1099Pro) c.3377A>C (p.Gln1126Pro) n.870A>C c.3395A>C (p.Gln1132Pro) n.3768A>C n.495A>C c.2564A>C (p.Gln855Pro) c.2339A>C (p.Gln780Pro) c.3434A>C (p.Gln1145Pro) c.1407A>C c.730A>C (n.730A>C) n.4373A>C n.2974A>C c.3485A>C (p.Gln1162Pro) c.3533A>C (p.Gln1178Pro) c.3593A>C (p.Gln1198Pro) c.3143A>C (p.Gln1048Pro) c.1445A>C (p.Gln482Pro) c.1262A>C (p.Gln421Pro) c.3494A>C (p.Gln1165Pro) c.3446A>C (p.Gln1149Pro) c.3215A>C (p.Gln1072Pro) c.3116A>C (p.Gln1039Pro) c.2297A>C (p.Gln766Pro) n.3848A>C	dbSNP
13	g.51939121T=	CA2091556803	ATP7B	c.1279A= (n.1279A=) c.2373A= (n.2373A=) c.3008A= (p.Gln1003=) c.3629A= (p.Gln1210=) c.3296A= (p.Gln1099=) c.3377A= (p.Gln1126=) n.870A= c.3395A= (p.Gln1132=) n.3768A= n.495A= c.2564A= (p.Gln855=) c.2339A= (p.Gln780=) c.3434A= (p.Gln1145=) c.1407A= c.730A= (n.730A=) n.4373A= n.2974A= c.3485A= (p.Gln1162=) c.3533A= (p.Gln1178=) c.3593A= (p.Gln1198=) c.3143A= (p.Gln1048=) c.1445A= (p.Gln482=) c.1262A= (p.Gln421=) c.3494A= (p.Gln1165=) c.3446A= (p.Gln1149=) c.3215A= (p.Gln1072=) c.3116A= (p.Gln1039=) c.2297A= (p.Gln766=) n.3848A=
13	g.51939122G>A	CA388024134	ATP7B	c.1278C>T (n.1278C>T) c.2372C>T (n.2372C>T) c.3007C>T (p.Gln1003Ter) c.3628C>T (p.Gln1210Ter) c.3295C>T (p.Gln1099Ter) c.3376C>T (p.Gln1126Ter) n.869C>T c.3394C>T (p.Gln1132Ter) n.3767C>T n.494C>T c.2563C>T (p.Gln855Ter) c.2338C>T (p.Gln780Ter) c.3433C>T (p.Gln1145Ter) c.1406C>T c.729C>T (n.729C>T) n.4372C>T n.2973C>T c.3484C>T (p.Gln1162Ter) c.3532C>T (p.Gln1178Ter) c.3592C>T (p.Gln1198Ter) c.3142C>T (p.Gln1048Ter) c.1444C>T (p.Gln482Ter) c.1261C>T (p.Gln421Ter) c.3493C>T (p.Gln1165Ter) c.3445C>T (p.Gln1149Ter) c.3214C>T (p.Gln1072Ter) c.3115C>T (p.Gln1039Ter) c.2296C>T (p.Gln766Ter) n.3847C>T
13	g.51939122G>C	CA388024153	ATP7B	c.1278C>G (n.1278C>G) c.2372C>G (n.2372C>G) c.3007C>G (p.Gln1003Glu) c.3628C>G (p.Gln1210Glu) c.3295C>G (p.Gln1099Glu) c.3376C>G (p.Gln1126Glu) n.869C>G c.3394C>G (p.Gln1132Glu) n.3767C>G n.494C>G c.2563C>G (p.Gln855Glu) c.2338C>G (p.Gln780Glu) c.3433C>G (p.Gln1145Glu) c.1406C>G c.729C>G (n.729C>G) n.4372C>G n.2973C>G c.3484C>G (p.Gln1162Glu) c.3532C>G (p.Gln1178Glu) c.3592C>G (p.Gln1198Glu) c.3142C>G (p.Gln1048Glu) c.1444C>G (p.Gln482Glu) c.1261C>G (p.Gln421Glu) c.3493C>G (p.Gln1165Glu) c.3445C>G (p.Gln1149Glu) c.3214C>G (p.Gln1072Glu) c.3115C>G (p.Gln1039Glu) c.2296C>G (p.Gln766Glu) n.3847C>G
13	g.51939122G>T	CA388024158	ATP7B	c.1278C>A (n.1278C>A) c.2372C>A (n.2372C>A) c.3007C>A (p.Gln1003Lys) c.3628C>A (p.Gln1210Lys) c.3295C>A (p.Gln1099Lys) c.3376C>A (p.Gln1126Lys) n.869C>A c.3394C>A (p.Gln1132Lys) n.3767C>A n.494C>A c.2563C>A (p.Gln855Lys) c.2338C>A (p.Gln780Lys) c.3433C>A (p.Gln1145Lys) c.1406C>A c.729C>A (n.729C>A) n.4372C>A n.2973C>A c.3484C>A (p.Gln1162Lys) c.3532C>A (p.Gln1178Lys) c.3592C>A (p.Gln1198Lys) c.3142C>A (p.Gln1048Lys) c.1444C>A (p.Gln482Lys) c.1261C>A (p.Gln421Lys) c.3493C>A (p.Gln1165Lys) c.3445C>A (p.Gln1149Lys) c.3214C>A (p.Gln1072Lys) c.3115C>A (p.Gln1039Lys) c.2296C>A (p.Gln766Lys) n.3847C>A
13	g.51939123C>A	CA483893767	ATP7B	c.1277G>T (n.1277G>T) c.2371G>T (n.2371G>T) c.3006G>T (p.Leu1002=) c.3627G>T (p.Leu1209=) c.3294G>T (p.Leu1098=) c.3375G>T (p.Leu1125=) n.868G>T c.3393G>T (p.Leu1131=) n.3766G>T n.493G>T c.2562G>T (p.Leu854=) c.2337G>T (p.Leu779=) c.3432G>T (p.Leu1144=) c.1405G>T c.728G>T (n.728G>T) n.4371G>T n.2972G>T c.3483G>T (p.Leu1161=) c.3531G>T (p.Leu1177=) c.3591G>T (p.Leu1197=) c.3141G>T (p.Leu1047=) c.1443G>T (p.Leu481=) c.1260G>T (p.Leu420=) c.3492G>T (p.Leu1164=) c.3444G>T (p.Leu1148=) c.3213G>T (p.Leu1071=) c.3114G>T (p.Leu1038=) c.2295G>T (p.Leu765=) n.3846G>T
13	g.51939123C>G	CA483893769	ATP7B	c.1277G>C (n.1277G>C) c.2371G>C (n.2371G>C) c.3006G>C (p.Leu1002=) c.3627G>C (p.Leu1209=) c.3294G>C (p.Leu1098=) c.3375G>C (p.Leu1125=) n.868G>C c.3393G>C (p.Leu1131=) n.3766G>C n.493G>C c.2562G>C (p.Leu854=) c.2337G>C (p.Leu779=) c.3432G>C (p.Leu1144=) c.1405G>C c.728G>C (n.728G>C) n.4371G>C n.2972G>C c.3483G>C (p.Leu1161=) c.3531G>C (p.Leu1177=) c.3591G>C (p.Leu1197=) c.3141G>C (p.Leu1047=) c.1443G>C (p.Leu481=) c.1260G>C (p.Leu420=) c.3492G>C (p.Leu1164=) c.3444G>C (p.Leu1148=) c.3213G>C (p.Leu1071=) c.3114G>C (p.Leu1038=) c.2295G>C (p.Leu765=) n.3846G>C
13	g.51939123C>T	CA483893770	ATP7B	c.1277G>A (n.1277G>A) c.2371G>A (n.2371G>A) c.3006G>A (p.Leu1002=) c.3627G>A (p.Leu1209=) c.3294G>A (p.Leu1098=) c.3375G>A (p.Leu1125=) n.868G>A c.3393G>A (p.Leu1131=) n.3766G>A n.493G>A c.2562G>A (p.Leu854=) c.2337G>A (p.Leu779=) c.3432G>A (p.Leu1144=) c.1405G>A c.728G>A (n.728G>A) n.4371G>A n.2972G>A c.3483G>A (p.Leu1161=) c.3531G>A (p.Leu1177=) c.3591G>A (p.Leu1197=) c.3141G>A (p.Leu1047=) c.1443G>A (p.Leu481=) c.1260G>A (p.Leu420=) c.3492G>A (p.Leu1164=) c.3444G>A (p.Leu1148=) c.3213G>A (p.Leu1071=) c.3114G>A (p.Leu1038=) c.2295G>A (p.Leu765=) n.3846G>A	gnomAD v4
13	g.51939124A>C	CA388024169	ATP7B	c.1276T>G (n.1276T>G) c.2370T>G (n.2370T>G) c.3005T>G (p.Leu1002Arg) c.3626T>G (p.Leu1209Arg) c.3293T>G (p.Leu1098Arg) c.3374T>G (p.Leu1125Arg) n.867T>G c.3392T>G (p.Leu1131Arg) n.3765T>G n.492T>G c.2561T>G (p.Leu854Arg) c.2336T>G (p.Leu779Arg) c.3431T>G (p.Leu1144Arg) c.1404T>G c.727T>G (n.727T>G) n.4370T>G n.2971T>G c.3482T>G (p.Leu1161Arg) c.3530T>G (p.Leu1177Arg) c.3590T>G (p.Leu1197Arg) c.3140T>G (p.Leu1047Arg) c.1442T>G (p.Leu481Arg) c.1259T>G (p.Leu420Arg) c.3491T>G (p.Leu1164Arg) c.3443T>G (p.Leu1148Arg) c.3212T>G (p.Leu1071Arg) c.3113T>G (p.Leu1038Arg) c.2294T>G (p.Leu765Arg) n.3845T>G
13	g.51939124A>G	CA388024174	ATP7B	c.1276T>C (n.1276T>C) c.2370T>C (n.2370T>C) c.3005T>C (p.Leu1002Pro) c.3626T>C (p.Leu1209Pro) c.3293T>C (p.Leu1098Pro) c.3374T>C (p.Leu1125Pro) n.867T>C c.3392T>C (p.Leu1131Pro) n.3765T>C n.492T>C c.2561T>C (p.Leu854Pro) c.2336T>C (p.Leu779Pro) c.3431T>C (p.Leu1144Pro) c.1404T>C c.727T>C (n.727T>C) n.4370T>C n.2971T>C c.3482T>C (p.Leu1161Pro) c.3530T>C (p.Leu1177Pro) c.3590T>C (p.Leu1197Pro) c.3140T>C (p.Leu1047Pro) c.1442T>C (p.Leu481Pro) c.1259T>C (p.Leu420Pro) c.3491T>C (p.Leu1164Pro) c.3443T>C (p.Leu1148Pro) c.3212T>C (p.Leu1071Pro) c.3113T>C (p.Leu1038Pro) c.2294T>C (p.Leu765Pro) n.3845T>C
13	g.51939124A>T	CA388024176	ATP7B	c.1276T>A (n.1276T>A) c.2370T>A (n.2370T>A) c.3005T>A (p.Leu1002Gln) c.3626T>A (p.Leu1209Gln) c.3293T>A (p.Leu1098Gln) c.3374T>A (p.Leu1125Gln) n.867T>A c.3392T>A (p.Leu1131Gln) n.3765T>A n.492T>A c.2561T>A (p.Leu854Gln) c.2336T>A (p.Leu779Gln) c.3431T>A (p.Leu1144Gln) c.1404T>A c.727T>A (n.727T>A) n.4370T>A n.2971T>A c.3482T>A (p.Leu1161Gln) c.3530T>A (p.Leu1177Gln) c.3590T>A (p.Leu1197Gln) c.3140T>A (p.Leu1047Gln) c.1442T>A (p.Leu481Gln) c.1259T>A (p.Leu420Gln) c.3491T>A (p.Leu1164Gln) c.3443T>A (p.Leu1148Gln) c.3212T>A (p.Leu1071Gln) c.3113T>A (p.Leu1038Gln) c.2294T>A (p.Leu765Gln) n.3845T>A
13	g.51939125G>A	CA6988618	ATP7B	c.1275C>T (n.1275C>T) c.2369C>T (n.2369C>T) c.3004C>T (p.Leu1002=) c.3625C>T (p.Leu1209=) c.3292C>T (p.Leu1098=) c.3373C>T (p.Leu1125=) n.866C>T c.3391C>T (p.Leu1131=) n.3764C>T n.491C>T c.2560C>T (p.Leu854=) c.2335C>T (p.Leu779=) c.3430C>T (p.Leu1144=) c.1403C>T c.726C>T (n.726C>T) n.4369C>T n.2970C>T c.3481C>T (p.Leu1161=) c.3529C>T (p.Leu1177=) c.3589C>T (p.Leu1197=) c.3139C>T (p.Leu1047=) c.1441C>T (p.Leu481=) c.1258C>T (p.Leu420=) c.3490C>T (p.Leu1164=) c.3442C>T (p.Leu1148=) c.3211C>T (p.Leu1071=) c.3112C>T (p.Leu1038=) c.2293C>T (p.Leu765=) n.3844C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.51939125G>C	CA388024188	ATP7B	c.1275C>G (n.1275C>G) c.2369C>G (n.2369C>G) c.3004C>G (p.Leu1002Val) c.3625C>G (p.Leu1209Val) c.3292C>G (p.Leu1098Val) c.3373C>G (p.Leu1125Val) n.866C>G c.3391C>G (p.Leu1131Val) n.3764C>G n.491C>G c.2560C>G (p.Leu854Val) c.2335C>G (p.Leu779Val) c.3430C>G (p.Leu1144Val) c.1403C>G c.726C>G (n.726C>G) n.4369C>G n.2970C>G c.3481C>G (p.Leu1161Val) c.3529C>G (p.Leu1177Val) c.3589C>G (p.Leu1197Val) c.3139C>G (p.Leu1047Val) c.1441C>G (p.Leu481Val) c.1258C>G (p.Leu420Val) c.3490C>G (p.Leu1164Val) c.3442C>G (p.Leu1148Val) c.3211C>G (p.Leu1071Val) c.3112C>G (p.Leu1038Val) c.2293C>G (p.Leu765Val) n.3844C>G
13	g.51939125G=	CA2091556807	ATP7B	c.1275C= (n.1275C=) c.2369C= (n.2369C=) c.3004C= (p.Leu1002=) c.3625C= (p.Leu1209=) c.3292C= (p.Leu1098=) c.3373C= (p.Leu1125=) n.866C= c.3391C= (p.Leu1131=) n.3764C= n.491C= c.2560C= (p.Leu854=) c.2335C= (p.Leu779=) c.3430C= (p.Leu1144=) c.1403C= c.726C= (n.726C=) n.4369C= n.2970C= c.3481C= (p.Leu1161=) c.3529C= (p.Leu1177=) c.3589C= (p.Leu1197=) c.3139C= (p.Leu1047=) c.1441C= (p.Leu481=) c.1258C= (p.Leu420=) c.3490C= (p.Leu1164=) c.3442C= (p.Leu1148=) c.3211C= (p.Leu1071=) c.3112C= (p.Leu1038=) c.2293C= (p.Leu765=) n.3844C=
13	g.51939125G>T	CA250075132	ATP7B	c.1275C>A (n.1275C>A) c.2369C>A (n.2369C>A) c.3004C>A (p.Leu1002Met) c.3625C>A (p.Leu1209Met) c.3292C>A (p.Leu1098Met) c.3373C>A (p.Leu1125Met) n.866C>A c.3391C>A (p.Leu1131Met) n.3764C>A n.491C>A c.2560C>A (p.Leu854Met) c.2335C>A (p.Leu779Met) c.3430C>A (p.Leu1144Met) c.1403C>A c.726C>A (n.726C>A) n.4369C>A n.2970C>A c.3481C>A (p.Leu1161Met) c.3529C>A (p.Leu1177Met) c.3589C>A (p.Leu1197Met) c.3139C>A (p.Leu1047Met) c.1441C>A (p.Leu481Met) c.1258C>A (p.Leu420Met) c.3490C>A (p.Leu1164Met) c.3442C>A (p.Leu1148Met) c.3211C>A (p.Leu1071Met) c.3112C>A (p.Leu1038Met) c.2293C>A (p.Leu765Met) n.3844C>A	dbSNP
13	g.51939126C>A	CA6988620	ATP7B	c.1274G>T (n.1274G>T) c.2368G>T (n.2368G>T) c.3003G>T (p.Thr1001=) c.3624G>T (p.Thr1208=) c.3291G>T (p.Thr1097=) c.3372G>T (p.Thr1124=) n.865G>T c.3390G>T (p.Thr1130=) n.3763G>T n.490G>T c.2559G>T (p.Thr853=) c.2334G>T (p.Thr778=) c.3429G>T (p.Thr1143=) c.1402G>T c.725G>T (n.725G>T) n.4368G>T n.2969G>T c.3480G>T (p.Thr1160=) c.3528G>T (p.Thr1176=) c.3588G>T (p.Thr1196=) c.3138G>T (p.Thr1046=) c.1440G>T (p.Thr480=) c.1257G>T (p.Thr419=) c.3489G>T (p.Thr1163=) c.3441G>T (p.Thr1147=) c.3210G>T (p.Thr1070=) c.3111G>T (p.Thr1037=) c.2292G>T (p.Thr764=) n.3843G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.51939126C=	CA2091556819	ATP7B	c.1274G= (n.1274G=) c.2368G= (n.2368G=) c.3003G= (p.Thr1001=) c.3624G= (p.Thr1208=) c.3291G= (p.Thr1097=) c.3372G= (p.Thr1124=) n.865G= c.3390G= (p.Thr1130=) n.3763G= n.490G= c.2559G= (p.Thr853=) c.2334G= (p.Thr778=) c.3429G= (p.Thr1143=) c.1402G= c.725G= (n.725G=) n.4368G= n.2969G= c.3480G= (p.Thr1160=) c.3528G= (p.Thr1176=) c.3588G= (p.Thr1196=) c.3138G= (p.Thr1046=) c.1440G= (p.Thr480=) c.1257G= (p.Thr419=) c.3489G= (p.Thr1163=) c.3441G= (p.Thr1147=) c.3210G= (p.Thr1070=) c.3111G= (p.Thr1037=) c.2292G= (p.Thr764=) n.3843G=
13	g.51939126C>G	CA483893771	ATP7B	c.1274G>C (n.1274G>C) c.2368G>C (n.2368G>C) c.3003G>C (p.Thr1001=) c.3624G>C (p.Thr1208=) c.3291G>C (p.Thr1097=) c.3372G>C (p.Thr1124=) n.865G>C c.3390G>C (p.Thr1130=) n.3763G>C n.490G>C c.2559G>C (p.Thr853=) c.2334G>C (p.Thr778=) c.3429G>C (p.Thr1143=) c.1402G>C c.725G>C (n.725G>C) n.4368G>C n.2969G>C c.3480G>C (p.Thr1160=) c.3528G>C (p.Thr1176=) c.3588G>C (p.Thr1196=) c.3138G>C (p.Thr1046=) c.1440G>C (p.Thr480=) c.1257G>C (p.Thr419=) c.3489G>C (p.Thr1163=) c.3441G>C (p.Thr1147=) c.3210G>C (p.Thr1070=) c.3111G>C (p.Thr1037=) c.2292G>C (p.Thr764=) n.3843G>C
13	g.51939126C>T	CA6988619	ATP7B	c.1274G>A (n.1274G>A) c.2368G>A (n.2368G>A) c.3003G>A (p.Thr1001=) c.3624G>A (p.Thr1208=) c.3291G>A (p.Thr1097=) c.3372G>A (p.Thr1124=) n.865G>A c.3390G>A (p.Thr1130=) n.3763G>A n.490G>A c.2559G>A (p.Thr853=) c.2334G>A (p.Thr778=) c.3429G>A (p.Thr1143=) c.1402G>A c.725G>A (n.725G>A) n.4368G>A n.2969G>A c.3480G>A (p.Thr1160=) c.3528G>A (p.Thr1176=) c.3588G>A (p.Thr1196=) c.3138G>A (p.Thr1046=) c.1440G>A (p.Thr480=) c.1257G>A (p.Thr419=) c.3489G>A (p.Thr1163=) c.3441G>A (p.Thr1147=) c.3210G>A (p.Thr1070=) c.3111G>A (p.Thr1037=) c.2292G>A (p.Thr764=) n.3843G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.51939127G>A	CA6988621	ATP7B	c.1273C>T (n.1273C>T) c.2367C>T (n.2367C>T) c.3002C>T (p.Thr1001Met) c.3623C>T (p.Thr1208Met) c.3290C>T (p.Thr1097Met) c.3371C>T (p.Thr1124Met) n.864C>T c.3389C>T (p.Thr1130Met) n.3762C>T n.489C>T c.2558C>T (p.Thr853Met) c.2333C>T (p.Thr778Met) c.3428C>T (p.Thr1143Met) c.1401C>T c.724C>T (n.724C>T) n.4367C>T n.2968C>T c.3479C>T (p.Thr1160Met) c.3527C>T (p.Thr1176Met) c.3587C>T (p.Thr1196Met) c.3137C>T (p.Thr1046Met) c.1439C>T (p.Thr480Met) c.1256C>T (p.Thr419Met) c.3488C>T (p.Thr1163Met) c.3440C>T (p.Thr1147Met) c.3209C>T (p.Thr1070Met) c.3110C>T (p.Thr1037Met) c.2291C>T (p.Thr764Met) n.3842C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.51939127G>C	CA388024198	ATP7B	c.1273C>G (n.1273C>G) c.2367C>G (n.2367C>G) c.3002C>G (p.Thr1001Arg) c.3623C>G (p.Thr1208Arg) c.3290C>G (p.Thr1097Arg) c.3371C>G (p.Thr1124Arg) n.864C>G c.3389C>G (p.Thr1130Arg) n.3762C>G n.489C>G c.2558C>G (p.Thr853Arg) c.2333C>G (p.Thr778Arg) c.3428C>G (p.Thr1143Arg) c.1401C>G c.724C>G (n.724C>G) n.4367C>G n.2968C>G c.3479C>G (p.Thr1160Arg) c.3527C>G (p.Thr1176Arg) c.3587C>G (p.Thr1196Arg) c.3137C>G (p.Thr1046Arg) c.1439C>G (p.Thr480Arg) c.1256C>G (p.Thr419Arg) c.3488C>G (p.Thr1163Arg) c.3440C>G (p.Thr1147Arg) c.3209C>G (p.Thr1070Arg) c.3110C>G (p.Thr1037Arg) c.2291C>G (p.Thr764Arg) n.3842C>G	ClinVar dbSNP
13	g.51939127G=	CA2091556828	ATP7B	c.1273C= (n.1273C=) c.2367C= (n.2367C=) c.3002C= (p.Thr1001=) c.3623C= (p.Thr1208=) c.3290C= (p.Thr1097=) c.3371C= (p.Thr1124=) n.864C= c.3389C= (p.Thr1130=) n.3762C= n.489C= c.2558C= (p.Thr853=) c.2333C= (p.Thr778=) c.3428C= (p.Thr1143=) c.1401C= c.724C= (n.724C=) n.4367C= n.2968C= c.3479C= (p.Thr1160=) c.3527C= (p.Thr1176=) c.3587C= (p.Thr1196=) c.3137C= (p.Thr1046=) c.1439C= (p.Thr480=) c.1256C= (p.Thr419=) c.3488C= (p.Thr1163=) c.3440C= (p.Thr1147=) c.3209C= (p.Thr1070=) c.3110C= (p.Thr1037=) c.2291C= (p.Thr764=) n.3842C=
13	g.51939127G>T	CA250075143	ATP7B	c.1273C>A (n.1273C>A) c.2367C>A (n.2367C>A) c.3002C>A (p.Thr1001Lys) c.3623C>A (p.Thr1208Lys) c.3290C>A (p.Thr1097Lys) c.3371C>A (p.Thr1124Lys) n.864C>A c.3389C>A (p.Thr1130Lys) n.3762C>A n.489C>A c.2558C>A (p.Thr853Lys) c.2333C>A (p.Thr778Lys) c.3428C>A (p.Thr1143Lys) c.1401C>A c.724C>A (n.724C>A) n.4367C>A n.2968C>A c.3479C>A (p.Thr1160Lys) c.3527C>A (p.Thr1176Lys) c.3587C>A (p.Thr1196Lys) c.3137C>A (p.Thr1046Lys) c.1439C>A (p.Thr480Lys) c.1256C>A (p.Thr419Lys) c.3488C>A (p.Thr1163Lys) c.3440C>A (p.Thr1147Lys) c.3209C>A (p.Thr1070Lys) c.3110C>A (p.Thr1037Lys) c.2291C>A (p.Thr764Lys) n.3842C>A	dbSNP gnomAD v4
13	g.51939128T>A	CA388024200	ATP7B	c.1272A>T (n.1272A>T) c.2366A>T (n.2366A>T) c.3001A>T (p.Thr1001Ser) c.3622A>T (p.Thr1208Ser) c.3289A>T (p.Thr1097Ser) c.3370A>T (p.Thr1124Ser) n.863A>T c.3388A>T (p.Thr1130Ser) n.3761A>T n.488A>T c.2557A>T (p.Thr853Ser) c.2332A>T (p.Thr778Ser) c.3427A>T (p.Thr1143Ser) c.1400A>T c.723A>T (n.723A>T) n.4366A>T n.2967A>T c.3478A>T (p.Thr1160Ser) c.3526A>T (p.Thr1176Ser) c.3586A>T (p.Thr1196Ser) c.3136A>T (p.Thr1046Ser) c.1438A>T (p.Thr480Ser) c.1255A>T (p.Thr419Ser) c.3487A>T (p.Thr1163Ser) c.3439A>T (p.Thr1147Ser) c.3208A>T (p.Thr1070Ser) c.3109A>T (p.Thr1037Ser) c.2290A>T (p.Thr764Ser) n.3841A>T
13	g.51939128T>C	CA388024213	ATP7B	c.1272A>G (n.1272A>G) c.2366A>G (n.2366A>G) c.3001A>G (p.Thr1001Ala) c.3622A>G (p.Thr1208Ala) c.3289A>G (p.Thr1097Ala) c.3370A>G (p.Thr1124Ala) n.863A>G c.3388A>G (p.Thr1130Ala) n.3761A>G n.488A>G c.2557A>G (p.Thr853Ala) c.2332A>G (p.Thr778Ala) c.3427A>G (p.Thr1143Ala) c.1400A>G c.723A>G (n.723A>G) n.4366A>G n.2967A>G c.3478A>G (p.Thr1160Ala) c.3526A>G (p.Thr1176Ala) c.3586A>G (p.Thr1196Ala) c.3136A>G (p.Thr1046Ala) c.1438A>G (p.Thr480Ala) c.1255A>G (p.Thr419Ala) c.3487A>G (p.Thr1163Ala) c.3439A>G (p.Thr1147Ala) c.3208A>G (p.Thr1070Ala) c.3109A>G (p.Thr1037Ala) c.2290A>G (p.Thr764Ala) n.3841A>G	gnomAD v4
13	g.51939128T>G	CA388024216	ATP7B	c.1272A>C (n.1272A>C) c.2366A>C (n.2366A>C) c.3001A>C (p.Thr1001Pro) c.3622A>C (p.Thr1208Pro) c.3289A>C (p.Thr1097Pro) c.3370A>C (p.Thr1124Pro) n.863A>C c.3388A>C (p.Thr1130Pro) n.3761A>C n.488A>C c.2557A>C (p.Thr853Pro) c.2332A>C (p.Thr778Pro) c.3427A>C (p.Thr1143Pro) c.1400A>C c.723A>C (n.723A>C) n.4366A>C n.2967A>C c.3478A>C (p.Thr1160Pro) c.3526A>C (p.Thr1176Pro) c.3586A>C (p.Thr1196Pro) c.3136A>C (p.Thr1046Pro) c.1438A>C (p.Thr480Pro) c.1255A>C (p.Thr419Pro) c.3487A>C (p.Thr1163Pro) c.3439A>C (p.Thr1147Pro) c.3208A>C (p.Thr1070Pro) c.3109A>C (p.Thr1037Pro) c.2290A>C (p.Thr764Pro) n.3841A>C
13	g.51939129G>A	CA483893773	ATP7B	c.1271C>T (n.1271C>T) c.2365C>T (n.2365C>T) c.3000C>T (p.His1000=) c.3621C>T (p.His1207=) c.3288C>T (p.His1096=) c.3369C>T (p.His1123=) n.862C>T c.3387C>T (p.His1129=) n.3760C>T n.487C>T c.2556C>T (p.His852=) c.2331C>T (p.His777=) c.3426C>T (p.His1142=) c.1399C>T c.722C>T (n.722C>T) n.4365C>T n.2966C>T c.3477C>T (p.His1159=) c.3525C>T (p.His1175=) c.3585C>T (p.His1195=) c.3135C>T (p.His1045=) c.1437C>T (p.His479=) c.1254C>T (p.His418=) c.3486C>T (p.His1162=) c.3438C>T (p.His1146=) c.3207C>T (p.His1069=) c.3108C>T (p.His1036=) c.2289C>T (p.His763=) n.3840C>T	ClinVar gnomAD v4
13	g.51939129G>C	CA388024223	ATP7B	c.1271C>G (n.1271C>G) c.2365C>G (n.2365C>G) c.3000C>G (p.His1000Gln) c.3621C>G (p.His1207Gln) c.3288C>G (p.His1096Gln) c.3369C>G (p.His1123Gln) n.862C>G c.3387C>G (p.His1129Gln) n.3760C>G n.487C>G c.2556C>G (p.His852Gln) c.2331C>G (p.His777Gln) c.3426C>G (p.His1142Gln) c.1399C>G c.722C>G (n.722C>G) n.4365C>G n.2966C>G c.3477C>G (p.His1159Gln) c.3525C>G (p.His1175Gln) c.3585C>G (p.His1195Gln) c.3135C>G (p.His1045Gln) c.1437C>G (p.His479Gln) c.1254C>G (p.His418Gln) c.3486C>G (p.His1162Gln) c.3438C>G (p.His1146Gln) c.3207C>G (p.His1069Gln) c.3108C>G (p.His1036Gln) c.2289C>G (p.His763Gln) n.3840C>G
13	g.51939129G>T	CA388024225	ATP7B	c.1271C>A (n.1271C>A) c.2365C>A (n.2365C>A) c.3000C>A (p.His1000Gln) c.3621C>A (p.His1207Gln) c.3288C>A (p.His1096Gln) c.3369C>A (p.His1123Gln) n.862C>A c.3387C>A (p.His1129Gln) n.3760C>A n.487C>A c.2556C>A (p.His852Gln) c.2331C>A (p.His777Gln) c.3426C>A (p.His1142Gln) c.1399C>A c.722C>A (n.722C>A) n.4365C>A n.2966C>A c.3477C>A (p.His1159Gln) c.3525C>A (p.His1175Gln) c.3585C>A (p.His1195Gln) c.3135C>A (p.His1045Gln) c.1437C>A (p.His479Gln) c.1254C>A (p.His418Gln) c.3486C>A (p.His1162Gln) c.3438C>A (p.His1146Gln) c.3207C>A (p.His1069Gln) c.3108C>A (p.His1036Gln) c.2289C>A (p.His763Gln) n.3840C>A
13	g.51939130T>A	CA388024231	ATP7B	c.1270A>T (n.1270A>T) c.2364A>T (n.2364A>T) c.2999A>T (p.His1000Leu) c.3620A>T (p.His1207Leu) c.3287A>T (p.His1096Leu) c.3368A>T (p.His1123Leu) n.861A>T c.3386A>T (p.His1129Leu) n.3759A>T n.486A>T c.2555A>T (p.His852Leu) c.2330A>T (p.His777Leu) c.3425A>T (p.His1142Leu) c.1398A>T c.721A>T (n.721A>T) n.4364A>T n.2965A>T c.3476A>T (p.His1159Leu) c.3524A>T (p.His1175Leu) c.3584A>T (p.His1195Leu) c.3134A>T (p.His1045Leu) c.1436A>T (p.His479Leu) c.1253A>T (p.His418Leu) c.3485A>T (p.His1162Leu) c.3437A>T (p.His1146Leu) c.3206A>T (p.His1069Leu) c.3107A>T (p.His1036Leu) c.2288A>T (p.His763Leu) n.3839A>T
13	g.51939130T>C	CA145687	ATP7B	c.1270A>G (n.1270A>G) c.2364A>G (n.2364A>G) c.2999A>G (p.His1000Arg) c.3620A>G (p.His1207Arg) c.3287A>G (p.His1096Arg) c.3368A>G (p.His1123Arg) n.861A>G c.3386A>G (p.His1129Arg) n.3759A>G n.486A>G c.2555A>G (p.His852Arg) c.2330A>G (p.His777Arg) c.3425A>G (p.His1142Arg) c.1398A>G c.721A>G (n.721A>G) n.4364A>G n.2965A>G c.3476A>G (p.His1159Arg) c.3524A>G (p.His1175Arg) c.3584A>G (p.His1195Arg) c.3134A>G (p.His1045Arg) c.1436A>G (p.His479Arg) c.1253A>G (p.His418Arg) c.3485A>G (p.His1162Arg) c.3437A>G (p.His1146Arg) c.3206A>G (p.His1069Arg) c.3107A>G (p.His1036Arg) c.2288A>G (p.His763Arg) n.3839A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.51939130T>G	CA388024238	ATP7B	c.1270A>C (n.1270A>C) c.2364A>C (n.2364A>C) c.2999A>C (p.His1000Pro) c.3620A>C (p.His1207Pro) c.3287A>C (p.His1096Pro) c.3368A>C (p.His1123Pro) n.861A>C c.3386A>C (p.His1129Pro) n.3759A>C n.486A>C c.2555A>C (p.His852Pro) c.2330A>C (p.His777Pro) c.3425A>C (p.His1142Pro) c.1398A>C c.721A>C (n.721A>C) n.4364A>C n.2965A>C c.3476A>C (p.His1159Pro) c.3524A>C (p.His1175Pro) c.3584A>C (p.His1195Pro) c.3134A>C (p.His1045Pro) c.1436A>C (p.His479Pro) c.1253A>C (p.His418Pro) c.3485A>C (p.His1162Pro) c.3437A>C (p.His1146Pro) c.3206A>C (p.His1069Pro) c.3107A>C (p.His1036Pro) c.2288A>C (p.His763Pro) n.3839A>C
13	g.51939130T=	CA2091556834	ATP7B	c.1270A= (n.1270A=) c.2364A= (n.2364A=) c.2999A= (p.His1000=) c.3620A= (p.His1207=) c.3287A= (p.His1096=) c.3368A= (p.His1123=) n.861A= c.3386A= (p.His1129=) n.3759A= n.486A= c.2555A= (p.His852=) c.2330A= (p.His777=) c.3425A= (p.His1142=) c.1398A= c.721A= (n.721A=) n.4364A= n.2965A= c.3476A= (p.His1159=) c.3524A= (p.His1175=) c.3584A= (p.His1195=) c.3134A= (p.His1045=) c.1436A= (p.His479=) c.1253A= (p.His418=) c.3485A= (p.His1162=) c.3437A= (p.His1146=) c.3206A= (p.His1069=) c.3107A= (p.His1036=) c.2288A= (p.His763=) n.3839A=
13	g.51939131G>A	CA6988622	ATP7B	c.1269C>T (n.1269C>T) c.2363C>T (n.2363C>T) c.2998C>T (p.His1000Tyr) c.3619C>T (p.His1207Tyr) c.3286C>T (p.His1096Tyr) c.3367C>T (p.His1123Tyr) n.860C>T c.3385C>T (p.His1129Tyr) n.3758C>T n.485C>T c.2554C>T (p.His852Tyr) c.2329C>T (p.His777Tyr) c.3424C>T (p.His1142Tyr) c.1397C>T c.720C>T (n.720C>T) n.4363C>T n.2964C>T c.3475C>T (p.His1159Tyr) c.3523C>T (p.His1175Tyr) c.3583C>T (p.His1195Tyr) c.3133C>T (p.His1045Tyr) c.1435C>T (p.His479Tyr) c.1252C>T (p.His418Tyr) c.3484C>T (p.His1162Tyr) c.3436C>T (p.His1146Tyr) c.3205C>T (p.His1069Tyr) c.3106C>T (p.His1036Tyr) c.2287C>T (p.His763Tyr) n.3838C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.51939131G>C	CA388024241	ATP7B	c.1269C>G (n.1269C>G) c.2363C>G (n.2363C>G) c.2998C>G (p.His1000Asp) c.3619C>G (p.His1207Asp) c.3286C>G (p.His1096Asp) c.3367C>G (p.His1123Asp) n.860C>G c.3385C>G (p.His1129Asp) n.3758C>G n.485C>G c.2554C>G (p.His852Asp) c.2329C>G (p.His777Asp) c.3424C>G (p.His1142Asp) c.1397C>G c.720C>G (n.720C>G) n.4363C>G n.2964C>G c.3475C>G (p.His1159Asp) c.3523C>G (p.His1175Asp) c.3583C>G (p.His1195Asp) c.3133C>G (p.His1045Asp) c.1435C>G (p.His479Asp) c.1252C>G (p.His418Asp) c.3484C>G (p.His1162Asp) c.3436C>G (p.His1146Asp) c.3205C>G (p.His1069Asp) c.3106C>G (p.His1036Asp) c.2287C>G (p.His763Asp) n.3838C>G	COSMIC
13	g.51939131G=	CA2091556838	ATP7B	c.1269C= (n.1269C=) c.2363C= (n.2363C=) c.2998C= (p.His1000=) c.3619C= (p.His1207=) c.3286C= (p.His1096=) c.3367C= (p.His1123=) n.860C= c.3385C= (p.His1129=) n.3758C= n.485C= c.2554C= (p.His852=) c.2329C= (p.His777=) c.3424C= (p.His1142=) c.1397C= c.720C= (n.720C=) n.4363C= n.2964C= c.3475C= (p.His1159=) c.3523C= (p.His1175=) c.3583C= (p.His1195=) c.3133C= (p.His1045=) c.1435C= (p.His479=) c.1252C= (p.His418=) c.3484C= (p.His1162=) c.3436C= (p.His1146=) c.3205C= (p.His1069=) c.3106C= (p.His1036=) c.2287C= (p.His763=) n.3838C=
13	g.51939131G>T	CA388024239	ATP7B	c.1269C>A (n.1269C>A) c.2363C>A (n.2363C>A) c.2998C>A (p.His1000Asn) c.3619C>A (p.His1207Asn) c.3286C>A (p.His1096Asn) c.3367C>A (p.His1123Asn) n.860C>A c.3385C>A (p.His1129Asn) n.3758C>A n.485C>A c.2554C>A (p.His852Asn) c.2329C>A (p.His777Asn) c.3424C>A (p.His1142Asn) c.1397C>A c.720C>A (n.720C>A) n.4363C>A n.2964C>A c.3475C>A (p.His1159Asn) c.3523C>A (p.His1175Asn) c.3583C>A (p.His1195Asn) c.3133C>A (p.His1045Asn) c.1435C>A (p.His479Asn) c.1252C>A (p.His418Asn) c.3484C>A (p.His1162Asn) c.3436C>A (p.His1146Asn) c.3205C>A (p.His1069Asn) c.3106C>A (p.His1036Asn) c.2287C>A (p.His763Asn) n.3838C>A
13	g.51939132C>A	CA483893775	ATP7B	c.1268G>T (n.1268G>T) c.2362G>T (n.2362G>T) c.2997G>T (p.Val999=) c.3618G>T (p.Val1206=) c.3285G>T (p.Val1095=) c.3366G>T (p.Val1122=) n.859G>T c.3384G>T (p.Val1128=) n.3757G>T n.484G>T c.2553G>T (p.Val851=) c.2328G>T (p.Val776=) c.3423G>T (p.Val1141=) c.1396G>T c.719G>T (n.719G>T) n.4362G>T n.2963G>T c.3474G>T (p.Val1158=) c.3522G>T (p.Val1174=) c.3582G>T (p.Val1194=) c.3132G>T (p.Val1044=) c.1434G>T (p.Val478=) c.1251G>T (p.Val417=) c.3483G>T (p.Val1161=) c.3435G>T (p.Val1145=) c.3204G>T (p.Val1068=) c.3105G>T (p.Val1035=) c.2286G>T (p.Val762=) n.3837G>T
13	g.51939132C=	CA2091556843	ATP7B	c.1268G= (n.1268G=) c.2362G= (n.2362G=) c.2997G= (p.Val999=) c.3618G= (p.Val1206=) c.3285G= (p.Val1095=) c.3366G= (p.Val1122=) n.859G= c.3384G= (p.Val1128=) n.3757G= n.484G= c.2553G= (p.Val851=) c.2328G= (p.Val776=) c.3423G= (p.Val1141=) c.1396G= c.719G= (n.719G=) n.4362G= n.2963G= c.3474G= (p.Val1158=) c.3522G= (p.Val1174=) c.3582G= (p.Val1194=) c.3132G= (p.Val1044=) c.1434G= (p.Val478=) c.1251G= (p.Val417=) c.3483G= (p.Val1161=) c.3435G= (p.Val1145=) c.3204G= (p.Val1068=) c.3105G= (p.Val1035=) c.2286G= (p.Val762=) n.3837G=
13	g.51939132C>G	CA483893776	ATP7B	c.1268G>C (n.1268G>C) c.2362G>C (n.2362G>C) c.2997G>C (p.Val999=) c.3618G>C (p.Val1206=) c.3285G>C (p.Val1095=) c.3366G>C (p.Val1122=) n.859G>C c.3384G>C (p.Val1128=) n.3757G>C n.484G>C c.2553G>C (p.Val851=) c.2328G>C (p.Val776=) c.3423G>C (p.Val1141=) c.1396G>C c.719G>C (n.719G>C) n.4362G>C n.2963G>C c.3474G>C (p.Val1158=) c.3522G>C (p.Val1174=) c.3582G>C (p.Val1194=) c.3132G>C (p.Val1044=) c.1434G>C (p.Val478=) c.1251G>C (p.Val417=) c.3483G>C (p.Val1161=) c.3435G>C (p.Val1145=) c.3204G>C (p.Val1068=) c.3105G>C (p.Val1035=) c.2286G>C (p.Val762=) n.3837G>C
13	g.51939132C>T	CA6988623	ATP7B	c.1268G>A (n.1268G>A) c.2362G>A (n.2362G>A) c.2997G>A (p.Val999=) c.3618G>A (p.Val1206=) c.3285G>A (p.Val1095=) c.3366G>A (p.Val1122=) n.859G>A c.3384G>A (p.Val1128=) n.3757G>A n.484G>A c.2553G>A (p.Val851=) c.2328G>A (p.Val776=) c.3423G>A (p.Val1141=) c.1396G>A c.719G>A (n.719G>A) n.4362G>A n.2963G>A c.3474G>A (p.Val1158=) c.3522G>A (p.Val1174=) c.3582G>A (p.Val1194=) c.3132G>A (p.Val1044=) c.1434G>A (p.Val478=) c.1251G>A (p.Val417=) c.3483G>A (p.Val1161=) c.3435G>A (p.Val1145=) c.3204G>A (p.Val1068=) c.3105G>A (p.Val1035=) c.2286G>A (p.Val762=) n.3837G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.51939133A>C	CA388024253	ATP7B	c.1267T>G (n.1267T>G) c.2361T>G (n.2361T>G) c.2996T>G (p.Val999Gly) c.3617T>G (p.Val1206Gly) c.3284T>G (p.Val1095Gly) c.3365T>G (p.Val1122Gly) n.858T>G c.3383T>G (p.Val1128Gly) n.3756T>G n.483T>G c.2552T>G (p.Val851Gly) c.2327T>G (p.Val776Gly) c.3422T>G (p.Val1141Gly) c.1395T>G c.718T>G (n.718T>G) n.4361T>G n.2962T>G c.3473T>G (p.Val1158Gly) c.3521T>G (p.Val1174Gly) c.3581T>G (p.Val1194Gly) c.3131T>G (p.Val1044Gly) c.1433T>G (p.Val478Gly) c.1250T>G (p.Val417Gly) c.3482T>G (p.Val1161Gly) c.3434T>G (p.Val1145Gly) c.3203T>G (p.Val1068Gly) c.3104T>G (p.Val1035Gly) c.2285T>G (p.Val762Gly) n.3836T>G
13	g.51939133A>G	CA388024246	ATP7B	c.1267T>C (n.1267T>C) c.2361T>C (n.2361T>C) c.2996T>C (p.Val999Ala) c.3617T>C (p.Val1206Ala) c.3284T>C (p.Val1095Ala) c.3365T>C (p.Val1122Ala) n.858T>C c.3383T>C (p.Val1128Ala) n.3756T>C n.483T>C c.2552T>C (p.Val851Ala) c.2327T>C (p.Val776Ala) c.3422T>C (p.Val1141Ala) c.1395T>C c.718T>C (n.718T>C) n.4361T>C n.2962T>C c.3473T>C (p.Val1158Ala) c.3521T>C (p.Val1174Ala) c.3581T>C (p.Val1194Ala) c.3131T>C (p.Val1044Ala) c.1433T>C (p.Val478Ala) c.1250T>C (p.Val417Ala) c.3482T>C (p.Val1161Ala) c.3434T>C (p.Val1145Ala) c.3203T>C (p.Val1068Ala) c.3104T>C (p.Val1035Ala) c.2285T>C (p.Val762Ala) n.3836T>C
13	g.51939133A>T	CA388024256	ATP7B	c.1267T>A (n.1267T>A) c.2361T>A (n.2361T>A) c.2996T>A (p.Val999Glu) c.3617T>A (p.Val1206Glu) c.3284T>A (p.Val1095Glu) c.3365T>A (p.Val1122Glu) n.858T>A c.3383T>A (p.Val1128Glu) n.3756T>A n.483T>A c.2552T>A (p.Val851Glu) c.2327T>A (p.Val776Glu) c.3422T>A (p.Val1141Glu) c.1395T>A c.718T>A (n.718T>A) n.4361T>A n.2962T>A c.3473T>A (p.Val1158Glu) c.3521T>A (p.Val1174Glu) c.3581T>A (p.Val1194Glu) c.3131T>A (p.Val1044Glu) c.1433T>A (p.Val478Glu) c.1250T>A (p.Val417Glu) c.3482T>A (p.Val1161Glu) c.3434T>A (p.Val1145Glu) c.3203T>A (p.Val1068Glu) c.3104T>A (p.Val1035Glu) c.2285T>A (p.Val762Glu) n.3836T>A
13	g.51939134C>A	CA388024262	ATP7B	c.1266G>T (n.1266G>T) c.2360G>T (n.2360G>T) c.2995G>T (p.Val999Leu) c.3616G>T (p.Val1206Leu) c.3283G>T (p.Val1095Leu) c.3364G>T (p.Val1122Leu) n.857G>T c.3382G>T (p.Val1128Leu) n.3755G>T n.482G>T c.2551G>T (p.Val851Leu) c.2326G>T (p.Val776Leu) c.3421G>T (p.Val1141Leu) c.1394G>T c.717G>T (n.717G>T) n.4360G>T n.2961G>T c.3472G>T (p.Val1158Leu) c.3520G>T (p.Val1174Leu) c.3580G>T (p.Val1194Leu) c.3130G>T (p.Val1044Leu) c.1432G>T (p.Val478Leu) c.1249G>T (p.Val417Leu) c.3481G>T (p.Val1161Leu) c.3433G>T (p.Val1145Leu) c.3202G>T (p.Val1068Leu) c.3103G>T (p.Val1035Leu) c.2284G>T (p.Val762Leu) n.3835G>T
13	g.51939134C>G	CA388024263	ATP7B	c.1266G>C (n.1266G>C) c.2360G>C (n.2360G>C) c.2995G>C (p.Val999Leu) c.3616G>C (p.Val1206Leu) c.3283G>C (p.Val1095Leu) c.3364G>C (p.Val1122Leu) n.857G>C c.3382G>C (p.Val1128Leu) n.3755G>C n.482G>C c.2551G>C (p.Val851Leu) c.2326G>C (p.Val776Leu) c.3421G>C (p.Val1141Leu) c.1394G>C c.717G>C (n.717G>C) n.4360G>C n.2961G>C c.3472G>C (p.Val1158Leu) c.3520G>C (p.Val1174Leu) c.3580G>C (p.Val1194Leu) c.3130G>C (p.Val1044Leu) c.1432G>C (p.Val478Leu) c.1249G>C (p.Val417Leu) c.3481G>C (p.Val1161Leu) c.3433G>C (p.Val1145Leu) c.3202G>C (p.Val1068Leu) c.3103G>C (p.Val1035Leu) c.2284G>C (p.Val762Leu) n.3835G>C	ClinVar
13	g.51939134C>T	CA388024264	ATP7B	c.1266G>A (n.1266G>A) c.2360G>A (n.2360G>A) c.2995G>A (p.Val999Met) c.3616G>A (p.Val1206Met) c.3283G>A (p.Val1095Met) c.3364G>A (p.Val1122Met) n.857G>A c.3382G>A (p.Val1128Met) n.3755G>A n.482G>A c.2551G>A (p.Val851Met) c.2326G>A (p.Val776Met) c.3421G>A (p.Val1141Met) c.1394G>A c.717G>A (n.717G>A) n.4360G>A n.2961G>A c.3472G>A (p.Val1158Met) c.3520G>A (p.Val1174Met) c.3580G>A (p.Val1194Met) c.3130G>A (p.Val1044Met) c.1432G>A (p.Val478Met) c.1249G>A (p.Val417Met) c.3481G>A (p.Val1161Met) c.3433G>A (p.Val1145Met) c.3202G>A (p.Val1068Met) c.3103G>A (p.Val1035Met) c.2284G>A (p.Val762Met) n.3835G>A	COSMIC
13	g.51939135A=	CA2091556850	ATP7B	c.1265T= (n.1265T=) c.2359T= (n.2359T=) c.2994T= (p.Ala998=) c.3615T= (p.Ala1205=) c.3282T= (p.Ala1094=) c.3363T= (p.Ala1121=) n.856T= c.3381T= (p.Ala1127=) n.3754T= n.481T= c.2550T= (p.Ala850=) c.2325T= (p.Ala775=) c.3420T= (p.Ala1140=) c.1393T= c.716T= (n.716T=) n.4359T= n.2960T= c.3471T= (p.Ala1157=) c.3519T= (p.Ala1173=) c.3579T= (p.Ala1193=) c.3129T= (p.Ala1043=) c.1431T= (p.Ala477=) c.1248T= (p.Ala416=) c.3480T= (p.Ala1160=) c.3432T= (p.Ala1144=) c.3201T= (p.Ala1067=) c.3102T= (p.Ala1034=) c.2283T= (p.Ala761=) n.3834T=
13	g.51939135A>C	CA483893782	ATP7B	c.1265T>G (n.1265T>G) c.2359T>G (n.2359T>G) c.2994T>G (p.Ala998=) c.3615T>G (p.Ala1205=) c.3282T>G (p.Ala1094=) c.3363T>G (p.Ala1121=) n.856T>G c.3381T>G (p.Ala1127=) n.3754T>G n.481T>G c.2550T>G (p.Ala850=) c.2325T>G (p.Ala775=) c.3420T>G (p.Ala1140=) c.1393T>G c.716T>G (n.716T>G) n.4359T>G n.2960T>G c.3471T>G (p.Ala1157=) c.3519T>G (p.Ala1173=) c.3579T>G (p.Ala1193=) c.3129T>G (p.Ala1043=) c.1431T>G (p.Ala477=) c.1248T>G (p.Ala416=) c.3480T>G (p.Ala1160=) c.3432T>G (p.Ala1144=) c.3201T>G (p.Ala1067=) c.3102T>G (p.Ala1034=) c.2283T>G (p.Ala761=) n.3834T>G
13	g.51939135A>G	CA6988624	ATP7B	c.1265T>C (n.1265T>C) c.2359T>C (n.2359T>C) c.2994T>C (p.Ala998=) c.3615T>C (p.Ala1205=) c.3282T>C (p.Ala1094=) c.3363T>C (p.Ala1121=) n.856T>C c.3381T>C (p.Ala1127=) n.3754T>C n.481T>C c.2550T>C (p.Ala850=) c.2325T>C (p.Ala775=) c.3420T>C (p.Ala1140=) c.1393T>C c.716T>C (n.716T>C) n.4359T>C n.2960T>C c.3471T>C (p.Ala1157=) c.3519T>C (p.Ala1173=) c.3579T>C (p.Ala1193=) c.3129T>C (p.Ala1043=) c.1431T>C (p.Ala477=) c.1248T>C (p.Ala416=) c.3480T>C (p.Ala1160=) c.3432T>C (p.Ala1144=) c.3201T>C (p.Ala1067=) c.3102T>C (p.Ala1034=) c.2283T>C (p.Ala761=) n.3834T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.51939135A>T	CA483893779	ATP7B	c.1265T>A (n.1265T>A) c.2359T>A (n.2359T>A) c.2994T>A (p.Ala998=) c.3615T>A (p.Ala1205=) c.3282T>A (p.Ala1094=) c.3363T>A (p.Ala1121=) n.856T>A c.3381T>A (p.Ala1127=) n.3754T>A n.481T>A c.2550T>A (p.Ala850=) c.2325T>A (p.Ala775=) c.3420T>A (p.Ala1140=) c.1393T>A c.716T>A (n.716T>A) n.4359T>A n.2960T>A c.3471T>A (p.Ala1157=) c.3519T>A (p.Ala1173=) c.3579T>A (p.Ala1193=) c.3129T>A (p.Ala1043=) c.1431T>A (p.Ala477=) c.1248T>A (p.Ala416=) c.3480T>A (p.Ala1160=) c.3432T>A (p.Ala1144=) c.3201T>A (p.Ala1067=) c.3102T>A (p.Ala1034=) c.2283T>A (p.Ala761=) n.3834T>A
13	g.51939136G>A	CA388024265	ATP7B	c.1264C>T (n.1264C>T) c.2358C>T (n.2358C>T) c.2993C>T (p.Ala998Val) c.3614C>T (p.Ala1205Val) c.3281C>T (p.Ala1094Val) c.3362C>T (p.Ala1121Val) n.855C>T c.3380C>T (p.Ala1127Val) n.3753C>T n.480C>T c.2549C>T (p.Ala850Val) c.2324C>T (p.Ala775Val) c.3419C>T (p.Ala1140Val) c.1392C>T c.715C>T (n.715C>T) n.4358C>T n.2959C>T c.3470C>T (p.Ala1157Val) c.3518C>T (p.Ala1173Val) c.3578C>T (p.Ala1193Val) c.3128C>T (p.Ala1043Val) c.1430C>T (p.Ala477Val) c.1247C>T (p.Ala416Val) c.3479C>T (p.Ala1160Val) c.3431C>T (p.Ala1144Val) c.3200C>T (p.Ala1067Val) c.3101C>T (p.Ala1034Val) c.2282C>T (p.Ala761Val) n.3833C>T	dbSNP
13	g.51939136G>C	CA388024266	ATP7B	c.1264C>G (n.1264C>G) c.2358C>G (n.2358C>G) c.2993C>G (p.Ala998Gly) c.3614C>G (p.Ala1205Gly) c.3281C>G (p.Ala1094Gly) c.3362C>G (p.Ala1121Gly) n.855C>G c.3380C>G (p.Ala1127Gly) n.3753C>G n.480C>G c.2549C>G (p.Ala850Gly) c.2324C>G (p.Ala775Gly) c.3419C>G (p.Ala1140Gly) c.1392C>G c.715C>G (n.715C>G) n.4358C>G n.2959C>G c.3470C>G (p.Ala1157Gly) c.3518C>G (p.Ala1173Gly) c.3578C>G (p.Ala1193Gly) c.3128C>G (p.Ala1043Gly) c.1430C>G (p.Ala477Gly) c.1247C>G (p.Ala416Gly) c.3479C>G (p.Ala1160Gly) c.3431C>G (p.Ala1144Gly) c.3200C>G (p.Ala1067Gly) c.3101C>G (p.Ala1034Gly) c.2282C>G (p.Ala761Gly) n.3833C>G
13	g.51939136G=	CA2091556857	ATP7B	c.1264C= (n.1264C=) c.2358C= (n.2358C=) c.2993C= (p.Ala998=) c.3614C= (p.Ala1205=) c.3281C= (p.Ala1094=) c.3362C= (p.Ala1121=) n.855C= c.3380C= (p.Ala1127=) n.3753C= n.480C= c.2549C= (p.Ala850=) c.2324C= (p.Ala775=) c.3419C= (p.Ala1140=) c.1392C= c.715C= (n.715C=) n.4358C= n.2959C= c.3470C= (p.Ala1157=) c.3518C= (p.Ala1173=) c.3578C= (p.Ala1193=) c.3128C= (p.Ala1043=) c.1430C= (p.Ala477=) c.1247C= (p.Ala416=) c.3479C= (p.Ala1160=) c.3431C= (p.Ala1144=) c.3200C= (p.Ala1067=) c.3101C= (p.Ala1034=) c.2282C= (p.Ala761=) n.3833C=
13	g.51939136G>T	CA388024270	ATP7B	c.1264C>A (n.1264C>A) c.2358C>A (n.2358C>A) c.2993C>A (p.Ala998Asp) c.3614C>A (p.Ala1205Asp) c.3281C>A (p.Ala1094Asp) c.3362C>A (p.Ala1121Asp) n.855C>A c.3380C>A (p.Ala1127Asp) n.3753C>A n.480C>A c.2549C>A (p.Ala850Asp) c.2324C>A (p.Ala775Asp) c.3419C>A (p.Ala1140Asp) c.1392C>A c.715C>A (n.715C>A) n.4358C>A n.2959C>A c.3470C>A (p.Ala1157Asp) c.3518C>A (p.Ala1173Asp) c.3578C>A (p.Ala1193Asp) c.3128C>A (p.Ala1043Asp) c.1430C>A (p.Ala477Asp) c.1247C>A (p.Ala416Asp) c.3479C>A (p.Ala1160Asp) c.3431C>A (p.Ala1144Asp) c.3200C>A (p.Ala1067Asp) c.3101C>A (p.Ala1034Asp) c.2282C>A (p.Ala761Asp) n.3833C>A
13	g.51939137C>A	CA388024273	ATP7B	c.1263G>T (n.1263G>T) c.2357G>T (n.2357G>T) c.2992G>T (p.Ala998Ser) c.3613G>T (p.Ala1205Ser) c.3280G>T (p.Ala1094Ser) c.3361G>T (p.Ala1121Ser) n.854G>T c.3379G>T (p.Ala1127Ser) n.3752G>T n.479G>T c.2548G>T (p.Ala850Ser) c.2323G>T (p.Ala775Ser) c.3418G>T (p.Ala1140Ser) c.1391G>T c.714G>T (n.714G>T) n.4357G>T n.2958G>T c.3469G>T (p.Ala1157Ser) c.3517G>T (p.Ala1173Ser) c.3577G>T (p.Ala1193Ser) c.3127G>T (p.Ala1043Ser) c.1429G>T (p.Ala477Ser) c.1246G>T (p.Ala416Ser) c.3478G>T (p.Ala1160Ser) c.3430G>T (p.Ala1144Ser) c.3199G>T (p.Ala1067Ser) c.3100G>T (p.Ala1034Ser) c.2281G>T (p.Ala761Ser) n.3832G>T	gnomAD v4
13	g.51939137C>G	CA388024277	ATP7B	c.1263G>C (n.1263G>C) c.2357G>C (n.2357G>C) c.2992G>C (p.Ala998Pro) c.3613G>C (p.Ala1205Pro) c.3280G>C (p.Ala1094Pro) c.3361G>C (p.Ala1121Pro) n.854G>C c.3379G>C (p.Ala1127Pro) n.3752G>C n.479G>C c.2548G>C (p.Ala850Pro) c.2323G>C (p.Ala775Pro) c.3418G>C (p.Ala1140Pro) c.1391G>C c.714G>C (n.714G>C) n.4357G>C n.2958G>C c.3469G>C (p.Ala1157Pro) c.3517G>C (p.Ala1173Pro) c.3577G>C (p.Ala1193Pro) c.3127G>C (p.Ala1043Pro) c.1429G>C (p.Ala477Pro) c.1246G>C (p.Ala416Pro) c.3478G>C (p.Ala1160Pro) c.3430G>C (p.Ala1144Pro) c.3199G>C (p.Ala1067Pro) c.3100G>C (p.Ala1034Pro) c.2281G>C (p.Ala761Pro) n.3832G>C
13	g.51939137C>T	CA388024279	ATP7B	c.1263G>A (n.1263G>A) c.2357G>A (n.2357G>A) c.2992G>A (p.Ala998Thr) c.3613G>A (p.Ala1205Thr) c.3280G>A (p.Ala1094Thr) c.3361G>A (p.Ala1121Thr) n.854G>A c.3379G>A (p.Ala1127Thr) n.3752G>A n.479G>A c.2548G>A (p.Ala850Thr) c.2323G>A (p.Ala775Thr) c.3418G>A (p.Ala1140Thr) c.1391G>A c.714G>A (n.714G>A) n.4357G>A n.2958G>A c.3469G>A (p.Ala1157Thr) c.3517G>A (p.Ala1173Thr) c.3577G>A (p.Ala1193Thr) c.3127G>A (p.Ala1043Thr) c.1429G>A (p.Ala477Thr) c.1246G>A (p.Ala416Thr) c.3478G>A (p.Ala1160Thr) c.3430G>A (p.Ala1144Thr) c.3199G>A (p.Ala1067Thr) c.3100G>A (p.Ala1034Thr) c.2281G>A (p.Ala761Thr) n.3832G>A	ClinVar COSMIC
13	g.51939138C>A	CA483893784	ATP7B	c.1262G>T (n.1262G>T) c.2356G>T (n.2356G>T) c.2991G>T (p.Leu997=) c.3612G>T (p.Leu1204=) c.3279G>T (p.Leu1093=) c.3360G>T (p.Leu1120=) n.853G>T c.3378G>T (p.Leu1126=) n.3751G>T n.478G>T c.2547G>T (p.Leu849=) c.2322G>T (p.Leu774=) c.3417G>T (p.Leu1139=) c.1390G>T c.713G>T (n.713G>T) n.4356G>T n.2957G>T c.3468G>T (p.Leu1156=) c.3516G>T (p.Leu1172=) c.3576G>T (p.Leu1192=) c.3126G>T (p.Leu1042=) c.1428G>T (p.Leu476=) c.1245G>T (p.Leu415=) c.3477G>T (p.Leu1159=) c.3429G>T (p.Leu1143=) c.3198G>T (p.Leu1066=) c.3099G>T (p.Leu1033=) c.2280G>T (p.Leu760=) n.3831G>T
13	g.51939138C=	CA2091556861	ATP7B	c.1262G= (n.1262G=) c.2356G= (n.2356G=) c.2991G= (p.Leu997=) c.3612G= (p.Leu1204=) c.3279G= (p.Leu1093=) c.3360G= (p.Leu1120=) n.853G= c.3378G= (p.Leu1126=) n.3751G= n.478G= c.2547G= (p.Leu849=) c.2322G= (p.Leu774=) c.3417G= (p.Leu1139=) c.1390G= c.713G= (n.713G=) n.4356G= n.2957G= c.3468G= (p.Leu1156=) c.3516G= (p.Leu1172=) c.3576G= (p.Leu1192=) c.3126G= (p.Leu1042=) c.1428G= (p.Leu476=) c.1245G= (p.Leu415=) c.3477G= (p.Leu1159=) c.3429G= (p.Leu1143=) c.3198G= (p.Leu1066=) c.3099G= (p.Leu1033=) c.2280G= (p.Leu760=) n.3831G=
13	g.51939138C>G	CA483893785	ATP7B	c.1262G>C (n.1262G>C) c.2356G>C (n.2356G>C) c.2991G>C (p.Leu997=) c.3612G>C (p.Leu1204=) c.3279G>C (p.Leu1093=) c.3360G>C (p.Leu1120=) n.853G>C c.3378G>C (p.Leu1126=) n.3751G>C n.478G>C c.2547G>C (p.Leu849=) c.2322G>C (p.Leu774=) c.3417G>C (p.Leu1139=) c.1390G>C c.713G>C (n.713G>C) n.4356G>C n.2957G>C c.3468G>C (p.Leu1156=) c.3516G>C (p.Leu1172=) c.3576G>C (p.Leu1192=) c.3126G>C (p.Leu1042=) c.1428G>C (p.Leu476=) c.1245G>C (p.Leu415=) c.3477G>C (p.Leu1159=) c.3429G>C (p.Leu1143=) c.3198G>C (p.Leu1066=) c.3099G>C (p.Leu1033=) c.2280G>C (p.Leu760=) n.3831G>C
13	g.51939138C>T	CA250075167	ATP7B	c.1262G>A (n.1262G>A) c.2356G>A (n.2356G>A) c.2991G>A (p.Leu997=) c.3612G>A (p.Leu1204=) c.3279G>A (p.Leu1093=) c.3360G>A (p.Leu1120=) n.853G>A c.3378G>A (p.Leu1126=) n.3751G>A n.478G>A c.2547G>A (p.Leu849=) c.2322G>A (p.Leu774=) c.3417G>A (p.Leu1139=) c.1390G>A c.713G>A (n.713G>A) n.4356G>A n.2957G>A c.3468G>A (p.Leu1156=) c.3516G>A (p.Leu1172=) c.3576G>A (p.Leu1192=) c.3126G>A (p.Leu1042=) c.1428G>A (p.Leu476=) c.1245G>A (p.Leu415=) c.3477G>A (p.Leu1159=) c.3429G>A (p.Leu1143=) c.3198G>A (p.Leu1066=) c.3099G>A (p.Leu1033=) c.2280G>A (p.Leu760=) n.3831G>A	ClinVar dbSNP gnomAD v4
13	g.51939139A>C	CA388024280	ATP7B	c.1261T>G (n.1261T>G) c.2355T>G (n.2355T>G) c.2990T>G (p.Leu997Arg) c.3611T>G (p.Leu1204Arg) c.3278T>G (p.Leu1093Arg) c.3359T>G (p.Leu1120Arg) n.852T>G c.3377T>G (p.Leu1126Arg) n.3750T>G n.477T>G c.2546T>G (p.Leu849Arg) c.2321T>G (p.Leu774Arg) c.3416T>G (p.Leu1139Arg) c.1389T>G c.712T>G (n.712T>G) n.4355T>G n.2956T>G c.3467T>G (p.Leu1156Arg) c.3515T>G (p.Leu1172Arg) c.3575T>G (p.Leu1192Arg) c.3125T>G (p.Leu1042Arg) c.1427T>G (p.Leu476Arg) c.1244T>G (p.Leu415Arg) c.3476T>G (p.Leu1159Arg) c.3428T>G (p.Leu1143Arg) c.3197T>G (p.Leu1066Arg) c.3098T>G (p.Leu1033Arg) c.2279T>G (p.Leu760Arg) n.3830T>G	gnomAD v4
13	g.51939139A>G	CA388024284	ATP7B	c.1261T>C (n.1261T>C) c.2355T>C (n.2355T>C) c.2990T>C (p.Leu997Pro) c.3611T>C (p.Leu1204Pro) c.3278T>C (p.Leu1093Pro) c.3359T>C (p.Leu1120Pro) n.852T>C c.3377T>C (p.Leu1126Pro) n.3750T>C n.477T>C c.2546T>C (p.Leu849Pro) c.2321T>C (p.Leu774Pro) c.3416T>C (p.Leu1139Pro) c.1389T>C c.712T>C (n.712T>C) n.4355T>C n.2956T>C c.3467T>C (p.Leu1156Pro) c.3515T>C (p.Leu1172Pro) c.3575T>C (p.Leu1192Pro) c.3125T>C (p.Leu1042Pro) c.1427T>C (p.Leu476Pro) c.1244T>C (p.Leu415Pro) c.3476T>C (p.Leu1159Pro) c.3428T>C (p.Leu1143Pro) c.3197T>C (p.Leu1066Pro) c.3098T>C (p.Leu1033Pro) c.2279T>C (p.Leu760Pro) n.3830T>C
13	g.51939139A>T	CA388024286	ATP7B	c.1261T>A (n.1261T>A) c.2355T>A (n.2355T>A) c.2990T>A (p.Leu997Gln) c.3611T>A (p.Leu1204Gln) c.3278T>A (p.Leu1093Gln) c.3359T>A (p.Leu1120Gln) n.852T>A c.3377T>A (p.Leu1126Gln) n.3750T>A n.477T>A c.2546T>A (p.Leu849Gln) c.2321T>A (p.Leu774Gln) c.3416T>A (p.Leu1139Gln) c.1389T>A c.712T>A (n.712T>A) n.4355T>A n.2956T>A c.3467T>A (p.Leu1156Gln) c.3515T>A (p.Leu1172Gln) c.3575T>A (p.Leu1192Gln) c.3125T>A (p.Leu1042Gln) c.1427T>A (p.Leu476Gln) c.1244T>A (p.Leu415Gln) c.3476T>A (p.Leu1159Gln) c.3428T>A (p.Leu1143Gln) c.3197T>A (p.Leu1066Gln) c.3098T>A (p.Leu1033Gln) c.2279T>A (p.Leu760Gln) n.3830T>A
13	g.51939140G>A	CA483893787	ATP7B	c.1260C>T (n.1260C>T) c.2354C>T (n.2354C>T) c.2989C>T (p.Leu997=) c.3610C>T (p.Leu1204=) c.3277C>T (p.Leu1093=) c.3358C>T (p.Leu1120=) n.851C>T c.3376C>T (p.Leu1126=) n.3749C>T n.476C>T c.2545C>T (p.Leu849=) c.2320C>T (p.Leu774=) c.3415C>T (p.Leu1139=) c.1388C>T c.711C>T (n.711C>T) n.4354C>T n.2955C>T c.3466C>T (p.Leu1156=) c.3514C>T (p.Leu1172=) c.3574C>T (p.Leu1192=) c.3124C>T (p.Leu1042=) c.1426C>T (p.Leu476=) c.1243C>T (p.Leu415=) c.3475C>T (p.Leu1159=) c.3427C>T (p.Leu1143=) c.3196C>T (p.Leu1066=) c.3097C>T (p.Leu1033=) c.2278C>T (p.Leu760=) n.3829C>T	ClinVar
13	g.51939140G>C	CA388024289	ATP7B	c.1260C>G (n.1260C>G) c.2354C>G (n.2354C>G) c.2989C>G (p.Leu997Val) c.3610C>G (p.Leu1204Val) c.3277C>G (p.Leu1093Val) c.3358C>G (p.Leu1120Val) n.851C>G c.3376C>G (p.Leu1126Val) n.3749C>G n.476C>G c.2545C>G (p.Leu849Val) c.2320C>G (p.Leu774Val) c.3415C>G (p.Leu1139Val) c.1388C>G c.711C>G (n.711C>G) n.4354C>G n.2955C>G c.3466C>G (p.Leu1156Val) c.3514C>G (p.Leu1172Val) c.3574C>G (p.Leu1192Val) c.3124C>G (p.Leu1042Val) c.1426C>G (p.Leu476Val) c.1243C>G (p.Leu415Val) c.3475C>G (p.Leu1159Val) c.3427C>G (p.Leu1143Val) c.3196C>G (p.Leu1066Val) c.3097C>G (p.Leu1033Val) c.2278C>G (p.Leu760Val) n.3829C>G
13	g.51939140G>T	CA388024288	ATP7B	c.1260C>A (n.1260C>A) c.2354C>A (n.2354C>A) c.2989C>A (p.Leu997Met) c.3610C>A (p.Leu1204Met) c.3277C>A (p.Leu1093Met) c.3358C>A (p.Leu1120Met) n.851C>A c.3376C>A (p.Leu1126Met) n.3749C>A n.476C>A c.2545C>A (p.Leu849Met) c.2320C>A (p.Leu774Met) c.3415C>A (p.Leu1139Met) c.1388C>A c.711C>A (n.711C>A) n.4354C>A n.2955C>A c.3466C>A (p.Leu1156Met) c.3514C>A (p.Leu1172Met) c.3574C>A (p.Leu1192Met) c.3124C>A (p.Leu1042Met) c.1426C>A (p.Leu476Met) c.1243C>A (p.Leu415Met) c.3475C>A (p.Leu1159Met) c.3427C>A (p.Leu1143Met) c.3196C>A (p.Leu1066Met) c.3097C>A (p.Leu1033Met) c.2278C>A (p.Leu760Met) n.3829C>A
13	g.51939141G>A	CA250075168	ATP7B	c.1259C>T (n.1259C>T) c.2353C>T (n.2353C>T) c.2988C>T (p.Ala996=) c.3609C>T (p.Ala1203=) c.3276C>T (p.Ala1092=) c.3357C>T (p.Ala1119=) n.850C>T c.3375C>T (p.Ala1125=) n.3748C>T n.475C>T c.2544C>T (p.Ala848=) c.2319C>T (p.Ala773=) c.3414C>T (p.Ala1138=) c.1387C>T c.710C>T (n.710C>T) n.4353C>T n.2954C>T c.3465C>T (p.Ala1155=) c.3513C>T (p.Ala1171=) c.3573C>T (p.Ala1191=) c.3123C>T (p.Ala1041=) c.1425C>T (p.Ala475=) c.1242C>T (p.Ala414=) c.3474C>T (p.Ala1158=) c.3426C>T (p.Ala1142=) c.3195C>T (p.Ala1065=) c.3096C>T (p.Ala1032=) c.2277C>T (p.Ala759=) n.3828C>T	ClinVar dbSNP gnomAD v4
13	g.51939141G>C	CA483893788	ATP7B	c.1259C>G (n.1259C>G) c.2353C>G (n.2353C>G) c.2988C>G (p.Ala996=) c.3609C>G (p.Ala1203=) c.3276C>G (p.Ala1092=) c.3357C>G (p.Ala1119=) n.850C>G c.3375C>G (p.Ala1125=) n.3748C>G n.475C>G c.2544C>G (p.Ala848=) c.2319C>G (p.Ala773=) c.3414C>G (p.Ala1138=) c.1387C>G c.710C>G (n.710C>G) n.4353C>G n.2954C>G c.3465C>G (p.Ala1155=) c.3513C>G (p.Ala1171=) c.3573C>G (p.Ala1191=) c.3123C>G (p.Ala1041=) c.1425C>G (p.Ala475=) c.1242C>G (p.Ala414=) c.3474C>G (p.Ala1158=) c.3426C>G (p.Ala1142=) c.3195C>G (p.Ala1065=) c.3096C>G (p.Ala1032=) c.2277C>G (p.Ala759=) n.3828C>G
13	g.51939141G=	CA2091556866	ATP7B	c.1259C= (n.1259C=) c.2353C= (n.2353C=) c.2988C= (p.Ala996=) c.3609C= (p.Ala1203=) c.3276C= (p.Ala1092=) c.3357C= (p.Ala1119=) n.850C= c.3375C= (p.Ala1125=) n.3748C= n.475C= c.2544C= (p.Ala848=) c.2319C= (p.Ala773=) c.3414C= (p.Ala1138=) c.1387C= c.710C= (n.710C=) n.4353C= n.2954C= c.3465C= (p.Ala1155=) c.3513C= (p.Ala1171=) c.3573C= (p.Ala1191=) c.3123C= (p.Ala1041=) c.1425C= (p.Ala475=) c.1242C= (p.Ala414=) c.3474C= (p.Ala1158=) c.3426C= (p.Ala1142=) c.3195C= (p.Ala1065=) c.3096C= (p.Ala1032=) c.2277C= (p.Ala759=) n.3828C=
13	g.51939141G>T	CA483893789	ATP7B	c.1259C>A (n.1259C>A) c.2353C>A (n.2353C>A) c.2988C>A (p.Ala996=) c.3609C>A (p.Ala1203=) c.3276C>A (p.Ala1092=) c.3357C>A (p.Ala1119=) n.850C>A c.3375C>A (p.Ala1125=) n.3748C>A n.475C>A c.2544C>A (p.Ala848=) c.2319C>A (p.Ala773=) c.3414C>A (p.Ala1138=) c.1387C>A c.710C>A (n.710C>A) n.4353C>A n.2954C>A c.3465C>A (p.Ala1155=) c.3513C>A (p.Ala1171=) c.3573C>A (p.Ala1191=) c.3123C>A (p.Ala1041=) c.1425C>A (p.Ala475=) c.1242C>A (p.Ala414=) c.3474C>A (p.Ala1158=) c.3426C>A (p.Ala1142=) c.3195C>A (p.Ala1065=) c.3096C>A (p.Ala1032=) c.2277C>A (p.Ala759=) n.3828C>A
13	g.51939142G>A	CA388024290	ATP7B	c.1258C>T (n.1258C>T) c.2352C>T (n.2352C>T) c.2987C>T (p.Ala996Val) c.3608C>T (p.Ala1203Val) c.3275C>T (p.Ala1092Val) c.3356C>T (p.Ala1119Val) n.849C>T c.3374C>T (p.Ala1125Val) n.3747C>T n.474C>T c.2543C>T (p.Ala848Val) c.2318C>T (p.Ala773Val) c.3413C>T (p.Ala1138Val) c.1386C>T c.709C>T (n.709C>T) n.4352C>T n.2953C>T c.3464C>T (p.Ala1155Val) c.3512C>T (p.Ala1171Val) c.3572C>T (p.Ala1191Val) c.3122C>T (p.Ala1041Val) c.1424C>T (p.Ala475Val) c.1241C>T (p.Ala414Val) c.3473C>T (p.Ala1158Val) c.3425C>T (p.Ala1142Val) c.3194C>T (p.Ala1065Val) c.3095C>T (p.Ala1032Val) c.2276C>T (p.Ala759Val) n.3827C>T	ClinVar gnomAD v4
13	g.51939142G>C	CA388024292	ATP7B	c.1258C>G (n.1258C>G) c.2352C>G (n.2352C>G) c.2987C>G (p.Ala996Gly) c.3608C>G (p.Ala1203Gly) c.3275C>G (p.Ala1092Gly) c.3356C>G (p.Ala1119Gly) n.849C>G c.3374C>G (p.Ala1125Gly) n.3747C>G n.474C>G c.2543C>G (p.Ala848Gly) c.2318C>G (p.Ala773Gly) c.3413C>G (p.Ala1138Gly) c.1386C>G c.709C>G (n.709C>G) n.4352C>G n.2953C>G c.3464C>G (p.Ala1155Gly) c.3512C>G (p.Ala1171Gly) c.3572C>G (p.Ala1191Gly) c.3122C>G (p.Ala1041Gly) c.1424C>G (p.Ala475Gly) c.1241C>G (p.Ala414Gly) c.3473C>G (p.Ala1158Gly) c.3425C>G (p.Ala1142Gly) c.3194C>G (p.Ala1065Gly) c.3095C>G (p.Ala1032Gly) c.2276C>G (p.Ala759Gly) n.3827C>G
13	g.51939142G=	CA2091556869	ATP7B	c.1258C= (n.1258C=) c.2352C= (n.2352C=) c.2987C= (p.Ala996=) c.3608C= (p.Ala1203=) c.3275C= (p.Ala1092=) c.3356C= (p.Ala1119=) n.849C= c.3374C= (p.Ala1125=) n.3747C= n.474C= c.2543C= (p.Ala848=) c.2318C= (p.Ala773=) c.3413C= (p.Ala1138=) c.1386C= c.709C= (n.709C=) n.4352C= n.2953C= c.3464C= (p.Ala1155=) c.3512C= (p.Ala1171=) c.3572C= (p.Ala1191=) c.3122C= (p.Ala1041=) c.1424C= (p.Ala475=) c.1241C= (p.Ala414=) c.3473C= (p.Ala1158=) c.3425C= (p.Ala1142=) c.3194C= (p.Ala1065=) c.3095C= (p.Ala1032=) c.2276C= (p.Ala759=) n.3827C=
13	g.51939142G>T	CA388024295	ATP7B	c.1258C>A (n.1258C>A) c.2352C>A (n.2352C>A) c.2987C>A (p.Ala996Asp) c.3608C>A (p.Ala1203Asp) c.3275C>A (p.Ala1092Asp) c.3356C>A (p.Ala1119Asp) n.849C>A c.3374C>A (p.Ala1125Asp) n.3747C>A n.474C>A c.2543C>A (p.Ala848Asp) c.2318C>A (p.Ala773Asp) c.3413C>A (p.Ala1138Asp) c.1386C>A c.709C>A (n.709C>A) n.4352C>A n.2953C>A c.3464C>A (p.Ala1155Asp) c.3512C>A (p.Ala1171Asp) c.3572C>A (p.Ala1191Asp) c.3122C>A (p.Ala1041Asp) c.1424C>A (p.Ala475Asp) c.1241C>A (p.Ala414Asp) c.3473C>A (p.Ala1158Asp) c.3425C>A (p.Ala1142Asp) c.3194C>A (p.Ala1065Asp) c.3095C>A (p.Ala1032Asp) c.2276C>A (p.Ala759Asp) n.3827C>A
13	g.51939143C>A	CA388024299	ATP7B	c.1257G>T (n.1257G>T) c.2351G>T (n.2351G>T) c.2986G>T (p.Ala996Ser) c.3607G>T (p.Ala1203Ser) c.3274G>T (p.Ala1092Ser) c.3355G>T (p.Ala1119Ser) n.848G>T c.3373G>T (p.Ala1125Ser) n.3746G>T n.473G>T c.2542G>T (p.Ala848Ser) c.2317G>T (p.Ala773Ser) c.3412G>T (p.Ala1138Ser) c.1385G>T c.708G>T (n.708G>T) n.4351G>T n.2952G>T c.3463G>T (p.Ala1155Ser) c.3511G>T (p.Ala1171Ser) c.3571G>T (p.Ala1191Ser) c.3121G>T (p.Ala1041Ser) c.1423G>T (p.Ala475Ser) c.1240G>T (p.Ala414Ser) c.3472G>T (p.Ala1158Ser) c.3424G>T (p.Ala1142Ser) c.3193G>T (p.Ala1065Ser) c.3094G>T (p.Ala1032Ser) c.2275G>T (p.Ala759Ser) n.3826G>T
13	g.51939143C=	CA2091556872	ATP7B	c.1257G= (n.1257G=) c.2351G= (n.2351G=) c.2986G= (p.Ala996=) c.3607G= (p.Ala1203=) c.3274G= (p.Ala1092=) c.3355G= (p.Ala1119=) n.848G= c.3373G= (p.Ala1125=) n.3746G= n.473G= c.2542G= (p.Ala848=) c.2317G= (p.Ala773=) c.3412G= (p.Ala1138=) c.1385G= c.708G= (n.708G=) n.4351G= n.2952G= c.3463G= (p.Ala1155=) c.3511G= (p.Ala1171=) c.3571G= (p.Ala1191=) c.3121G= (p.Ala1041=) c.1423G= (p.Ala475=) c.1240G= (p.Ala414=) c.3472G= (p.Ala1158=) c.3424G= (p.Ala1142=) c.3193G= (p.Ala1065=) c.3094G= (p.Ala1032=) c.2275G= (p.Ala759=) n.3826G=
13	g.51939143C>G	CA388024301	ATP7B	c.1257G>C (n.1257G>C) c.2351G>C (n.2351G>C) c.2986G>C (p.Ala996Pro) c.3607G>C (p.Ala1203Pro) c.3274G>C (p.Ala1092Pro) c.3355G>C (p.Ala1119Pro) n.848G>C c.3373G>C (p.Ala1125Pro) n.3746G>C n.473G>C c.2542G>C (p.Ala848Pro) c.2317G>C (p.Ala773Pro) c.3412G>C (p.Ala1138Pro) c.1385G>C c.708G>C (n.708G>C) n.4351G>C n.2952G>C c.3463G>C (p.Ala1155Pro) c.3511G>C (p.Ala1171Pro) c.3571G>C (p.Ala1191Pro) c.3121G>C (p.Ala1041Pro) c.1423G>C (p.Ala475Pro) c.1240G>C (p.Ala414Pro) c.3472G>C (p.Ala1158Pro) c.3424G>C (p.Ala1142Pro) c.3193G>C (p.Ala1065Pro) c.3094G>C (p.Ala1032Pro) c.2275G>C (p.Ala759Pro) n.3826G>C	gnomAD v4
13	g.51939143C>T	CA388024302	ATP7B	c.1257G>A (n.1257G>A) c.2351G>A (n.2351G>A) c.2986G>A (p.Ala996Thr) c.3607G>A (p.Ala1203Thr) c.3274G>A (p.Ala1092Thr) c.3355G>A (p.Ala1119Thr) n.848G>A c.3373G>A (p.Ala1125Thr) n.3746G>A n.473G>A c.2542G>A (p.Ala848Thr) c.2317G>A (p.Ala773Thr) c.3412G>A (p.Ala1138Thr) c.1385G>A c.708G>A (n.708G>A) n.4351G>A n.2952G>A c.3463G>A (p.Ala1155Thr) c.3511G>A (p.Ala1171Thr) c.3571G>A (p.Ala1191Thr) c.3121G>A (p.Ala1041Thr) c.1423G>A (p.Ala475Thr) c.1240G>A (p.Ala414Thr) c.3472G>A (p.Ala1158Thr) c.3424G>A (p.Ala1142Thr) c.3193G>A (p.Ala1065Thr) c.3094G>A (p.Ala1032Thr) c.2275G>A (p.Ala759Thr) n.3826G>A	dbSNP gnomAD v4
13	g.51939144A>C	CA483893791	ATP7B	c.1256T>G (n.1256T>G) c.2350T>G (n.2350T>G) c.2985T>G (p.Ala995=) c.3606T>G (p.Ala1202=) c.3273T>G (p.Ala1091=) c.3354T>G (p.Ala1118=) n.847T>G c.3372T>G (p.Ala1124=) n.3745T>G n.472T>G c.2541T>G (p.Ala847=) c.2316T>G (p.Ala772=) c.3411T>G (p.Ala1137=) c.1384T>G c.707T>G (n.707T>G) n.4350T>G n.2951T>G c.3462T>G (p.Ala1154=) c.3510T>G (p.Ala1170=) c.3570T>G (p.Ala1190=) c.3120T>G (p.Ala1040=) c.1422T>G (p.Ala474=) c.1239T>G (p.Ala413=) c.3471T>G (p.Ala1157=) c.3423T>G (p.Ala1141=) c.3192T>G (p.Ala1064=) c.3093T>G (p.Ala1031=) c.2274T>G (p.Ala758=) n.3825T>G
13	g.51939144A>G	CA483893792	ATP7B	c.1256T>C (n.1256T>C) c.2350T>C (n.2350T>C) c.2985T>C (p.Ala995=) c.3606T>C (p.Ala1202=) c.3273T>C (p.Ala1091=) c.3354T>C (p.Ala1118=) n.847T>C c.3372T>C (p.Ala1124=) n.3745T>C n.472T>C c.2541T>C (p.Ala847=) c.2316T>C (p.Ala772=) c.3411T>C (p.Ala1137=) c.1384T>C c.707T>C (n.707T>C) n.4350T>C n.2951T>C c.3462T>C (p.Ala1154=) c.3510T>C (p.Ala1170=) c.3570T>C (p.Ala1190=) c.3120T>C (p.Ala1040=) c.1422T>C (p.Ala474=) c.1239T>C (p.Ala413=) c.3471T>C (p.Ala1157=) c.3423T>C (p.Ala1141=) c.3192T>C (p.Ala1064=) c.3093T>C (p.Ala1031=) c.2274T>C (p.Ala758=) n.3825T>C
13	g.51939144A>T	CA483893793	ATP7B	c.1256T>A (n.1256T>A) c.2350T>A (n.2350T>A) c.2985T>A (p.Ala995=) c.3606T>A (p.Ala1202=) c.3273T>A (p.Ala1091=) c.3354T>A (p.Ala1118=) n.847T>A c.3372T>A (p.Ala1124=) n.3745T>A n.472T>A c.2541T>A (p.Ala847=) c.2316T>A (p.Ala772=) c.3411T>A (p.Ala1137=) c.1384T>A c.707T>A (n.707T>A) n.4350T>A n.2951T>A c.3462T>A (p.Ala1154=) c.3510T>A (p.Ala1170=) c.3570T>A (p.Ala1190=) c.3120T>A (p.Ala1040=) c.1422T>A (p.Ala474=) c.1239T>A (p.Ala413=) c.3471T>A (p.Ala1157=) c.3423T>A (p.Ala1141=) c.3192T>A (p.Ala1064=) c.3093T>A (p.Ala1031=) c.2274T>A (p.Ala758=) n.3825T>A
13	g.51939145G>A	CA6988625	ATP7B	c.1255C>T (n.1255C>T) c.2349C>T (n.2349C>T) c.2984C>T (p.Ala995Val) c.3605C>T (p.Ala1202Val) c.3272C>T (p.Ala1091Val) c.3353C>T (p.Ala1118Val) n.846C>T c.3371C>T (p.Ala1124Val) n.3744C>T n.471C>T c.2540C>T (p.Ala847Val) c.2315C>T (p.Ala772Val) c.3410C>T (p.Ala1137Val) c.1383C>T c.706C>T (n.706C>T) n.4349C>T n.2950C>T c.3461C>T (p.Ala1154Val) c.3509C>T (p.Ala1170Val) c.3569C>T (p.Ala1190Val) c.3119C>T (p.Ala1040Val) c.1421C>T (p.Ala474Val) c.1238C>T (p.Ala413Val) c.3470C>T (p.Ala1157Val) c.3422C>T (p.Ala1141Val) c.3191C>T (p.Ala1064Val) c.3092C>T (p.Ala1031Val) c.2273C>T (p.Ala758Val) n.3824C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.51939145G>C	CA388024303	ATP7B	c.1255C>G (n.1255C>G) c.2349C>G (n.2349C>G) c.2984C>G (p.Ala995Gly) c.3605C>G (p.Ala1202Gly) c.3272C>G (p.Ala1091Gly) c.3353C>G (p.Ala1118Gly) n.846C>G c.3371C>G (p.Ala1124Gly) n.3744C>G n.471C>G c.2540C>G (p.Ala847Gly) c.2315C>G (p.Ala772Gly) c.3410C>G (p.Ala1137Gly) c.1383C>G c.706C>G (n.706C>G) n.4349C>G n.2950C>G c.3461C>G (p.Ala1154Gly) c.3509C>G (p.Ala1170Gly) c.3569C>G (p.Ala1190Gly) c.3119C>G (p.Ala1040Gly) c.1421C>G (p.Ala474Gly) c.1238C>G (p.Ala413Gly) c.3470C>G (p.Ala1157Gly) c.3422C>G (p.Ala1141Gly) c.3191C>G (p.Ala1064Gly) c.3092C>G (p.Ala1031Gly) c.2273C>G (p.Ala758Gly) n.3824C>G
13	g.51939145G=	CA2091556875	ATP7B	c.1255C= (n.1255C=) c.2349C= (n.2349C=) c.2984C= (p.Ala995=) c.3605C= (p.Ala1202=) c.3272C= (p.Ala1091=) c.3353C= (p.Ala1118=) n.846C= c.3371C= (p.Ala1124=) n.3744C= n.471C= c.2540C= (p.Ala847=) c.2315C= (p.Ala772=) c.3410C= (p.Ala1137=) c.1383C= c.706C= (n.706C=) n.4349C= n.2950C= c.3461C= (p.Ala1154=) c.3509C= (p.Ala1170=) c.3569C= (p.Ala1190=) c.3119C= (p.Ala1040=) c.1421C= (p.Ala474=) c.1238C= (p.Ala413=) c.3470C= (p.Ala1157=) c.3422C= (p.Ala1141=) c.3191C= (p.Ala1064=) c.3092C= (p.Ala1031=) c.2273C= (p.Ala758=) n.3824C=
13	g.51939145G>T	CA388024313	ATP7B	c.1255C>A (n.1255C>A) c.2349C>A (n.2349C>A) c.2984C>A (p.Ala995Asp) c.3605C>A (p.Ala1202Asp) c.3272C>A (p.Ala1091Asp) c.3353C>A (p.Ala1118Asp) n.846C>A c.3371C>A (p.Ala1124Asp) n.3744C>A n.471C>A c.2540C>A (p.Ala847Asp) c.2315C>A (p.Ala772Asp) c.3410C>A (p.Ala1137Asp) c.1383C>A c.706C>A (n.706C>A) n.4349C>A n.2950C>A c.3461C>A (p.Ala1154Asp) c.3509C>A (p.Ala1170Asp) c.3569C>A (p.Ala1190Asp) c.3119C>A (p.Ala1040Asp) c.1421C>A (p.Ala474Asp) c.1238C>A (p.Ala413Asp) c.3470C>A (p.Ala1157Asp) c.3422C>A (p.Ala1141Asp) c.3191C>A (p.Ala1064Asp) c.3092C>A (p.Ala1031Asp) c.2273C>A (p.Ala758Asp) n.3824C>A	COSMIC
13	g.51939146C>A	CA388024320	ATP7B	c.1254G>T (n.1254G>T) c.2348G>T (n.2348G>T) c.2983G>T (p.Ala995Ser) c.3604G>T (p.Ala1202Ser) c.3271G>T (p.Ala1091Ser) c.3352G>T (p.Ala1118Ser) n.845G>T c.3370G>T (p.Ala1124Ser) n.3743G>T n.470G>T c.2539G>T (p.Ala847Ser) c.2314G>T (p.Ala772Ser) c.3409G>T (p.Ala1137Ser) c.1382G>T c.705G>T (n.705G>T) n.4348G>T n.2949G>T c.3460G>T (p.Ala1154Ser) c.3508G>T (p.Ala1170Ser) c.3568G>T (p.Ala1190Ser) c.3118G>T (p.Ala1040Ser) c.1420G>T (p.Ala474Ser) c.1237G>T (p.Ala413Ser) c.3469G>T (p.Ala1157Ser) c.3421G>T (p.Ala1141Ser) c.3190G>T (p.Ala1064Ser) c.3091G>T (p.Ala1031Ser) c.2272G>T (p.Ala758Ser) n.3823G>T
13	g.51939146C>G	CA388024322	ATP7B	c.1254G>C (n.1254G>C) c.2348G>C (n.2348G>C) c.2983G>C (p.Ala995Pro) c.3604G>C (p.Ala1202Pro) c.3271G>C (p.Ala1091Pro) c.3352G>C (p.Ala1118Pro) n.845G>C c.3370G>C (p.Ala1124Pro) n.3743G>C n.470G>C c.2539G>C (p.Ala847Pro) c.2314G>C (p.Ala772Pro) c.3409G>C (p.Ala1137Pro) c.1382G>C c.705G>C (n.705G>C) n.4348G>C n.2949G>C c.3460G>C (p.Ala1154Pro) c.3508G>C (p.Ala1170Pro) c.3568G>C (p.Ala1190Pro) c.3118G>C (p.Ala1040Pro) c.1420G>C (p.Ala474Pro) c.1237G>C (p.Ala413Pro) c.3469G>C (p.Ala1157Pro) c.3421G>C (p.Ala1141Pro) c.3190G>C (p.Ala1064Pro) c.3091G>C (p.Ala1031Pro) c.2272G>C (p.Ala758Pro) n.3823G>C
13	g.51939146C>T	CA388024323	ATP7B	c.1254G>A (n.1254G>A) c.2348G>A (n.2348G>A) c.2983G>A (p.Ala995Thr) c.3604G>A (p.Ala1202Thr) c.3271G>A (p.Ala1091Thr) c.3352G>A (p.Ala1118Thr) n.845G>A c.3370G>A (p.Ala1124Thr) n.3743G>A n.470G>A c.2539G>A (p.Ala847Thr) c.2314G>A (p.Ala772Thr) c.3409G>A (p.Ala1137Thr) c.1382G>A c.705G>A (n.705G>A) n.4348G>A n.2949G>A c.3460G>A (p.Ala1154Thr) c.3508G>A (p.Ala1170Thr) c.3568G>A (p.Ala1190Thr) c.3118G>A (p.Ala1040Thr) c.1420G>A (p.Ala474Thr) c.1237G>A (p.Ala413Thr) c.3469G>A (p.Ala1157Thr) c.3421G>A (p.Ala1141Thr) c.3190G>A (p.Ala1064Thr) c.3091G>A (p.Ala1031Thr) c.2272G>A (p.Ala758Thr) n.3823G>A
13	g.51939147C>A	CA388024324	ATP7B	c.1253G>T (n.1253G>T) c.2347G>T (n.2347G>T) c.2982G>T (p.Glu994Asp) c.3603G>T (p.Glu1201Asp) c.3270G>T (p.Glu1090Asp) c.3351G>T (p.Glu1117Asp) n.844G>T c.3369G>T (p.Glu1123Asp) n.3742G>T n.469G>T c.2538G>T (p.Glu846Asp) c.2313G>T (p.Glu771Asp) c.3408G>T (p.Glu1136Asp) c.1381G>T c.704G>T (n.704G>T) n.4347G>T n.2948G>T c.3459G>T (p.Glu1153Asp) c.3507G>T (p.Glu1169Asp) c.3567G>T (p.Glu1189Asp) c.3117G>T (p.Glu1039Asp) c.1419G>T (p.Glu473Asp) c.1236G>T (p.Glu412Asp) c.3468G>T (p.Glu1156Asp) c.3420G>T (p.Glu1140Asp) c.3189G>T (p.Glu1063Asp) c.3090G>T (p.Glu1030Asp) c.2271G>T (p.Glu757Asp) n.3822G>T
13	g.51939147C>G	CA388024325	ATP7B	c.1253G>C (n.1253G>C) c.2347G>C (n.2347G>C) c.2982G>C (p.Glu994Asp) c.3603G>C (p.Glu1201Asp) c.3270G>C (p.Glu1090Asp) c.3351G>C (p.Glu1117Asp) n.844G>C c.3369G>C (p.Glu1123Asp) n.3742G>C n.469G>C c.2538G>C (p.Glu846Asp) c.2313G>C (p.Glu771Asp) c.3408G>C (p.Glu1136Asp) c.1381G>C c.704G>C (n.704G>C) n.4347G>C n.2948G>C c.3459G>C (p.Glu1153Asp) c.3507G>C (p.Glu1169Asp) c.3567G>C (p.Glu1189Asp) c.3117G>C (p.Glu1039Asp) c.1419G>C (p.Glu473Asp) c.1236G>C (p.Glu412Asp) c.3468G>C (p.Glu1156Asp) c.3420G>C (p.Glu1140Asp) c.3189G>C (p.Glu1063Asp) c.3090G>C (p.Glu1030Asp) c.2271G>C (p.Glu757Asp) n.3822G>C
13	g.51939147C>T	CA483893796	ATP7B	c.1253G>A (n.1253G>A) c.2347G>A (n.2347G>A) c.2982G>A (p.Glu994=) c.3603G>A (p.Glu1201=) c.3270G>A (p.Glu1090=) c.3351G>A (p.Glu1117=) n.844G>A c.3369G>A (p.Glu1123=) n.3742G>A n.469G>A c.2538G>A (p.Glu846=) c.2313G>A (p.Glu771=) c.3408G>A (p.Glu1136=) c.1381G>A c.704G>A (n.704G>A) n.4347G>A n.2948G>A c.3459G>A (p.Glu1153=) c.3507G>A (p.Glu1169=) c.3567G>A (p.Glu1189=) c.3117G>A (p.Glu1039=) c.1419G>A (p.Glu473=) c.1236G>A (p.Glu412=) c.3468G>A (p.Glu1156=) c.3420G>A (p.Glu1140=) c.3189G>A (p.Glu1063=) c.3090G>A (p.Glu1030=) c.2271G>A (p.Glu757=) n.3822G>A	ClinVar dbSNP
13	g.51939148T>A	CA388024328	ATP7B	c.1252A>T (n.1252A>T) c.2346A>T (n.2346A>T) c.2981A>T (p.Glu994Val) c.3602A>T (p.Glu1201Val) c.3269A>T (p.Glu1090Val) c.3350A>T (p.Glu1117Val) n.843A>T c.3368A>T (p.Glu1123Val) n.3741A>T n.468A>T c.2537A>T (p.Glu846Val) c.2312A>T (p.Glu771Val) c.3407A>T (p.Glu1136Val) c.1380A>T c.703A>T (n.703A>T) n.4346A>T n.2947A>T c.3458A>T (p.Glu1153Val) c.3506A>T (p.Glu1169Val) c.3566A>T (p.Glu1189Val) c.3116A>T (p.Glu1039Val) c.1418A>T (p.Glu473Val) c.1235A>T (p.Glu412Val) c.3467A>T (p.Glu1156Val) c.3419A>T (p.Glu1140Val) c.3188A>T (p.Glu1063Val) c.3089A>T (p.Glu1030Val) c.2270A>T (p.Glu757Val) n.3821A>T
13	g.51939148T>C	CA388024332	ATP7B	c.1252A>G (n.1252A>G) c.2346A>G (n.2346A>G) c.2981A>G (p.Glu994Gly) c.3602A>G (p.Glu1201Gly) c.3269A>G (p.Glu1090Gly) c.3350A>G (p.Glu1117Gly) n.843A>G c.3368A>G (p.Glu1123Gly) n.3741A>G n.468A>G c.2537A>G (p.Glu846Gly) c.2312A>G (p.Glu771Gly) c.3407A>G (p.Glu1136Gly) c.1380A>G c.703A>G (n.703A>G) n.4346A>G n.2947A>G c.3458A>G (p.Glu1153Gly) c.3506A>G (p.Glu1169Gly) c.3566A>G (p.Glu1189Gly) c.3116A>G (p.Glu1039Gly) c.1418A>G (p.Glu473Gly) c.1235A>G (p.Glu412Gly) c.3467A>G (p.Glu1156Gly) c.3419A>G (p.Glu1140Gly) c.3188A>G (p.Glu1063Gly) c.3089A>G (p.Glu1030Gly) c.2270A>G (p.Glu757Gly) n.3821A>G
13	g.51939148T>G	CA388024331	ATP7B	c.1252A>C (n.1252A>C) c.2346A>C (n.2346A>C) c.2981A>C (p.Glu994Ala) c.3602A>C (p.Glu1201Ala) c.3269A>C (p.Glu1090Ala) c.3350A>C (p.Glu1117Ala) n.843A>C c.3368A>C (p.Glu1123Ala) n.3741A>C n.468A>C c.2537A>C (p.Glu846Ala) c.2312A>C (p.Glu771Ala) c.3407A>C (p.Glu1136Ala) c.1380A>C c.703A>C (n.703A>C) n.4346A>C n.2947A>C c.3458A>C (p.Glu1153Ala) c.3506A>C (p.Glu1169Ala) c.3566A>C (p.Glu1189Ala) c.3116A>C (p.Glu1039Ala) c.1418A>C (p.Glu473Ala) c.1235A>C (p.Glu412Ala) c.3467A>C (p.Glu1156Ala) c.3419A>C (p.Glu1140Ala) c.3188A>C (p.Glu1063Ala) c.3089A>C (p.Glu1030Ala) c.2270A>C (p.Glu757Ala) n.3821A>C
13	g.51939149C>A	CA388024335	ATP7B	c.1251G>T (n.1251G>T) c.2345G>T (n.2345G>T) c.2980G>T (p.Glu994Ter) c.3601G>T (p.Glu1201Ter) c.3268G>T (p.Glu1090Ter) c.3349G>T (p.Glu1117Ter) n.842G>T c.3367G>T (p.Glu1123Ter) n.3740G>T n.467G>T c.2536G>T (p.Glu846Ter) c.2311G>T (p.Glu771Ter) c.3406G>T (p.Glu1136Ter) c.1379G>T c.702G>T (n.702G>T) n.4345G>T n.2946G>T c.3457G>T (p.Glu1153Ter) c.3505G>T (p.Glu1169Ter) c.3565G>T (p.Glu1189Ter) c.3115G>T (p.Glu1039Ter) c.1417G>T (p.Glu473Ter) c.1234G>T (p.Glu412Ter) c.3466G>T (p.Glu1156Ter) c.3418G>T (p.Glu1140Ter) c.3187G>T (p.Glu1063Ter) c.3088G>T (p.Glu1030Ter) c.2269G>T (p.Glu757Ter) n.3820G>T	gnomAD v4
13	g.51939149C>G	CA388024345	ATP7B	c.1251G>C (n.1251G>C) c.2345G>C (n.2345G>C) c.2980G>C (p.Glu994Gln) c.3601G>C (p.Glu1201Gln) c.3268G>C (p.Glu1090Gln) c.3349G>C (p.Glu1117Gln) n.842G>C c.3367G>C (p.Glu1123Gln) n.3740G>C n.467G>C c.2536G>C (p.Glu846Gln) c.2311G>C (p.Glu771Gln) c.3406G>C (p.Glu1136Gln) c.1379G>C c.702G>C (n.702G>C) n.4345G>C n.2946G>C c.3457G>C (p.Glu1153Gln) c.3505G>C (p.Glu1169Gln) c.3565G>C (p.Glu1189Gln) c.3115G>C (p.Glu1039Gln) c.1417G>C (p.Glu473Gln) c.1234G>C (p.Glu412Gln) c.3466G>C (p.Glu1156Gln) c.3418G>C (p.Glu1140Gln) c.3187G>C (p.Glu1063Gln) c.3088G>C (p.Glu1030Gln) c.2269G>C (p.Glu757Gln) n.3820G>C
13	g.51939149C>T	CA388024346	ATP7B	c.1251G>A (n.1251G>A) c.2345G>A (n.2345G>A) c.2980G>A (p.Glu994Lys) c.3601G>A (p.Glu1201Lys) c.3268G>A (p.Glu1090Lys) c.3349G>A (p.Glu1117Lys) n.842G>A c.3367G>A (p.Glu1123Lys) n.3740G>A n.467G>A c.2536G>A (p.Glu846Lys) c.2311G>A (p.Glu771Lys) c.3406G>A (p.Glu1136Lys) c.1379G>A c.702G>A (n.702G>A) n.4345G>A n.2946G>A c.3457G>A (p.Glu1153Lys) c.3505G>A (p.Glu1169Lys) c.3565G>A (p.Glu1189Lys) c.3115G>A (p.Glu1039Lys) c.1417G>A (p.Glu473Lys) c.1234G>A (p.Glu412Lys) c.3466G>A (p.Glu1156Lys) c.3418G>A (p.Glu1140Lys) c.3187G>A (p.Glu1063Lys) c.3088G>A (p.Glu1030Lys) c.2269G>A (p.Glu757Lys) n.3820G>A	gnomAD v4
13	g.51939150C>A	CA388024347	ATP7B	c.1250G>T (n.1250G>T) c.2344G>T (n.2344G>T) c.2979G>T (p.Gln993His) c.3600G>T (p.Gln1200His) c.3267G>T (p.Gln1089His) c.3348G>T (p.Gln1116His) n.841G>T c.3366G>T (p.Gln1122His) n.3739G>T n.466G>T c.2535G>T (p.Gln845His) c.2310G>T (p.Gln770His) c.3405G>T (p.Gln1135His) c.1378G>T c.701G>T (n.701G>T) n.4344G>T n.2945G>T c.3456G>T (p.Gln1152His) c.3504G>T (p.Gln1168His) c.3564G>T (p.Gln1188His) c.3114G>T (p.Gln1038His) c.1416G>T (p.Gln472His) c.1233G>T (p.Gln411His) c.3465G>T (p.Gln1155His) c.3417G>T (p.Gln1139His) c.3186G>T (p.Gln1062His) c.3087G>T (p.Gln1029His) c.2268G>T (p.Gln756His) n.3819G>T
13	g.51939150C=	CA2091556877	ATP7B	c.1250G= (n.1250G=) c.2344G= (n.2344G=) c.2979G= (p.Gln993=) c.3600G= (p.Gln1200=) c.3267G= (p.Gln1089=) c.3348G= (p.Gln1116=) n.841G= c.3366G= (p.Gln1122=) n.3739G= n.466G= c.2535G= (p.Gln845=) c.2310G= (p.Gln770=) c.3405G= (p.Gln1135=) c.1378G= c.701G= (n.701G=) n.4344G= n.2945G= c.3456G= (p.Gln1152=) c.3504G= (p.Gln1168=) c.3564G= (p.Gln1188=) c.3114G= (p.Gln1038=) c.1416G= (p.Gln472=) c.1233G= (p.Gln411=) c.3465G= (p.Gln1155=) c.3417G= (p.Gln1139=) c.3186G= (p.Gln1062=) c.3087G= (p.Gln1029=) c.2268G= (p.Gln756=) n.3819G=
13	g.51939150C>G	CA388024348	ATP7B	c.1250G>C (n.1250G>C) c.2344G>C (n.2344G>C) c.2979G>C (p.Gln993His) c.3600G>C (p.Gln1200His) c.3267G>C (p.Gln1089His) c.3348G>C (p.Gln1116His) n.841G>C c.3366G>C (p.Gln1122His) n.3739G>C n.466G>C c.2535G>C (p.Gln845His) c.2310G>C (p.Gln770His) c.3405G>C (p.Gln1135His) c.1378G>C c.701G>C (n.701G>C) n.4344G>C n.2945G>C c.3456G>C (p.Gln1152His) c.3504G>C (p.Gln1168His) c.3564G>C (p.Gln1188His) c.3114G>C (p.Gln1038His) c.1416G>C (p.Gln472His) c.1233G>C (p.Gln411His) c.3465G>C (p.Gln1155His) c.3417G>C (p.Gln1139His) c.3186G>C (p.Gln1062His) c.3087G>C (p.Gln1029His) c.2268G>C (p.Gln756His) n.3819G>C
13	g.51939150C>T	CA483893798	ATP7B	c.1250G>A (n.1250G>A) c.2344G>A (n.2344G>A) c.2979G>A (p.Gln993=) c.3600G>A (p.Gln1200=) c.3267G>A (p.Gln1089=) c.3348G>A (p.Gln1116=) n.841G>A c.3366G>A (p.Gln1122=) n.3739G>A n.466G>A c.2535G>A (p.Gln845=) c.2310G>A (p.Gln770=) c.3405G>A (p.Gln1135=) c.1378G>A c.701G>A (n.701G>A) n.4344G>A n.2945G>A c.3456G>A (p.Gln1152=) c.3504G>A (p.Gln1168=) c.3564G>A (p.Gln1188=) c.3114G>A (p.Gln1038=) c.1416G>A (p.Gln472=) c.1233G>A (p.Gln411=) c.3465G>A (p.Gln1155=) c.3417G>A (p.Gln1139=) c.3186G>A (p.Gln1062=) c.3087G>A (p.Gln1029=) c.2268G>A (p.Gln756=) n.3819G>A	dbSNP
13	g.51939151T>A	CA388024354	ATP7B	c.1249A>T (n.1249A>T) c.2343A>T (n.2343A>T) c.2978A>T (p.Gln993Leu) c.3599A>T (p.Gln1200Leu) c.3266A>T (p.Gln1089Leu) c.3347A>T (p.Gln1116Leu) n.840A>T c.3365A>T (p.Gln1122Leu) n.3738A>T n.465A>T c.2534A>T (p.Gln845Leu) c.2309A>T (p.Gln770Leu) c.3404A>T (p.Gln1135Leu) c.1377A>T c.700A>T (n.700A>T) n.4343A>T n.2944A>T c.3455A>T (p.Gln1152Leu) c.3503A>T (p.Gln1168Leu) c.3563A>T (p.Gln1188Leu) c.3113A>T (p.Gln1038Leu) c.1415A>T (p.Gln472Leu) c.1232A>T (p.Gln411Leu) c.3464A>T (p.Gln1155Leu) c.3416A>T (p.Gln1139Leu) c.3185A>T (p.Gln1062Leu) c.3086A>T (p.Gln1029Leu) c.2267A>T (p.Gln756Leu) n.3818A>T
13	g.51939151T>C	CA388024357	ATP7B	c.1249A>G (n.1249A>G) c.2343A>G (n.2343A>G) c.2978A>G (p.Gln993Arg) c.3599A>G (p.Gln1200Arg) c.3266A>G (p.Gln1089Arg) c.3347A>G (p.Gln1116Arg) n.840A>G c.3365A>G (p.Gln1122Arg) n.3738A>G n.465A>G c.2534A>G (p.Gln845Arg) c.2309A>G (p.Gln770Arg) c.3404A>G (p.Gln1135Arg) c.1377A>G c.700A>G (n.700A>G) n.4343A>G n.2944A>G c.3455A>G (p.Gln1152Arg) c.3503A>G (p.Gln1168Arg) c.3563A>G (p.Gln1188Arg) c.3113A>G (p.Gln1038Arg) c.1415A>G (p.Gln472Arg) c.1232A>G (p.Gln411Arg) c.3464A>G (p.Gln1155Arg) c.3416A>G (p.Gln1139Arg) c.3185A>G (p.Gln1062Arg) c.3086A>G (p.Gln1029Arg) c.2267A>G (p.Gln756Arg) n.3818A>G
13	g.51939151T>G	CA6988626	ATP7B	c.1249A>C (n.1249A>C) c.2343A>C (n.2343A>C) c.2978A>C (p.Gln993Pro) c.3599A>C (p.Gln1200Pro) c.3266A>C (p.Gln1089Pro) c.3347A>C (p.Gln1116Pro) n.840A>C c.3365A>C (p.Gln1122Pro) n.3738A>C n.465A>C c.2534A>C (p.Gln845Pro) c.2309A>C (p.Gln770Pro) c.3404A>C (p.Gln1135Pro) c.1377A>C c.700A>C (n.700A>C) n.4343A>C n.2944A>C c.3455A>C (p.Gln1152Pro) c.3503A>C (p.Gln1168Pro) c.3563A>C (p.Gln1188Pro) c.3113A>C (p.Gln1038Pro) c.1415A>C (p.Gln472Pro) c.1232A>C (p.Gln411Pro) c.3464A>C (p.Gln1155Pro) c.3416A>C (p.Gln1139Pro) c.3185A>C (p.Gln1062Pro) c.3086A>C (p.Gln1029Pro) c.2267A>C (p.Gln756Pro) n.3818A>C	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.51939151T=	CA2091556880	ATP7B	c.1249A= (n.1249A=) c.2343A= (n.2343A=) c.2978A= (p.Gln993=) c.3599A= (p.Gln1200=) c.3266A= (p.Gln1089=) c.3347A= (p.Gln1116=) n.840A= c.3365A= (p.Gln1122=) n.3738A= n.465A= c.2534A= (p.Gln845=) c.2309A= (p.Gln770=) c.3404A= (p.Gln1135=) c.1377A= c.700A= (n.700A=) n.4343A= n.2944A= c.3455A= (p.Gln1152=) c.3503A= (p.Gln1168=) c.3563A= (p.Gln1188=) c.3113A= (p.Gln1038=) c.1415A= (p.Gln472=) c.1232A= (p.Gln411=) c.3464A= (p.Gln1155=) c.3416A= (p.Gln1139=) c.3185A= (p.Gln1062=) c.3086A= (p.Gln1029=) c.2267A= (p.Gln756=) n.3818A=
13	g.51939152G>A	CA274326	ATP7B	c.1248C>T (n.1248C>T) c.2342C>T (n.2342C>T) c.2977C>T (p.Gln993Ter) c.3598C>T (p.Gln1200Ter) c.3265C>T (p.Gln1089Ter) c.3346C>T (p.Gln1116Ter) n.839C>T c.3364C>T (p.Gln1122Ter) n.3737C>T n.464C>T c.2533C>T (p.Gln845Ter) c.2308C>T (p.Gln770Ter) c.3403C>T (p.Gln1135Ter) c.1376C>T c.699C>T (n.699C>T) n.4342C>T n.2943C>T c.3454C>T (p.Gln1152Ter) c.3502C>T (p.Gln1168Ter) c.3562C>T (p.Gln1188Ter) c.3112C>T (p.Gln1038Ter) c.1414C>T (p.Gln472Ter) c.1231C>T (p.Gln411Ter) c.3463C>T (p.Gln1155Ter) c.3415C>T (p.Gln1139Ter) c.3184C>T (p.Gln1062Ter) c.3085C>T (p.Gln1029Ter) c.2266C>T (p.Gln756Ter) n.3817C>T	ClinVar dbSNP
13	g.51939152G>C	CA388024365	ATP7B	c.1248C>G (n.1248C>G) c.2342C>G (n.2342C>G) c.2977C>G (p.Gln993Glu) c.3598C>G (p.Gln1200Glu) c.3265C>G (p.Gln1089Glu) c.3346C>G (p.Gln1116Glu) n.839C>G c.3364C>G (p.Gln1122Glu) n.3737C>G n.464C>G c.2533C>G (p.Gln845Glu) c.2308C>G (p.Gln770Glu) c.3403C>G (p.Gln1135Glu) c.1376C>G c.699C>G (n.699C>G) n.4342C>G n.2943C>G c.3454C>G (p.Gln1152Glu) c.3502C>G (p.Gln1168Glu) c.3562C>G (p.Gln1188Glu) c.3112C>G (p.Gln1038Glu) c.1414C>G (p.Gln472Glu) c.1231C>G (p.Gln411Glu) c.3463C>G (p.Gln1155Glu) c.3415C>G (p.Gln1139Glu) c.3184C>G (p.Gln1062Glu) c.3085C>G (p.Gln1029Glu) c.2266C>G (p.Gln756Glu) n.3817C>G
13	g.51939152G=	CA2091556883	ATP7B	c.1248C= (n.1248C=) c.2342C= (n.2342C=) c.2977C= (p.Gln993=) c.3598C= (p.Gln1200=) c.3265C= (p.Gln1089=) c.3346C= (p.Gln1116=) n.839C= c.3364C= (p.Gln1122=) n.3737C= n.464C= c.2533C= (p.Gln845=) c.2308C= (p.Gln770=) c.3403C= (p.Gln1135=) c.1376C= c.699C= (n.699C=) n.4342C= n.2943C= c.3454C= (p.Gln1152=) c.3502C= (p.Gln1168=) c.3562C= (p.Gln1188=) c.3112C= (p.Gln1038=) c.1414C= (p.Gln472=) c.1231C= (p.Gln411=) c.3463C= (p.Gln1155=) c.3415C= (p.Gln1139=) c.3184C= (p.Gln1062=) c.3085C= (p.Gln1029=) c.2266C= (p.Gln756=) n.3817C=
13	g.51939152G>T	CA388024366	ATP7B	c.1248C>A (n.1248C>A) c.2342C>A (n.2342C>A) c.2977C>A (p.Gln993Lys) c.3598C>A (p.Gln1200Lys) c.3265C>A (p.Gln1089Lys) c.3346C>A (p.Gln1116Lys) n.839C>A c.3364C>A (p.Gln1122Lys) n.3737C>A n.464C>A c.2533C>A (p.Gln845Lys) c.2308C>A (p.Gln770Lys) c.3403C>A (p.Gln1135Lys) c.1376C>A c.699C>A (n.699C>A) n.4342C>A n.2943C>A c.3454C>A (p.Gln1152Lys) c.3502C>A (p.Gln1168Lys) c.3562C>A (p.Gln1188Lys) c.3112C>A (p.Gln1038Lys) c.1414C>A (p.Gln472Lys) c.1231C>A (p.Gln411Lys) c.3463C>A (p.Gln1155Lys) c.3415C>A (p.Gln1139Lys) c.3184C>A (p.Gln1062Lys) c.3085C>A (p.Gln1029Lys) c.2266C>A (p.Gln756Lys) n.3817C>A
13	g.51939153C>A	CA388024367	ATP7B	c.1247G>T (n.1247G>T) c.2341G>T (n.2341G>T) c.2976G>T (p.Lys992Asn) c.3597G>T (p.Lys1199Asn) c.3264G>T (p.Lys1088Asn) c.3345G>T (p.Lys1115Asn) n.838G>T c.3363G>T (p.Lys1121Asn) n.3736G>T n.463G>T c.2532G>T (p.Lys844Asn) c.2307G>T (p.Lys769Asn) c.3402G>T (p.Lys1134Asn) c.1375G>T c.698G>T (n.698G>T) n.4341G>T n.2942G>T c.3453G>T (p.Lys1151Asn) c.3501G>T (p.Lys1167Asn) c.3561G>T (p.Lys1187Asn) c.3111G>T (p.Lys1037Asn) c.1413G>T (p.Lys471Asn) c.1230G>T (p.Lys410Asn) c.3462G>T (p.Lys1154Asn) c.3414G>T (p.Lys1138Asn) c.3183G>T (p.Lys1061Asn) c.3084G>T (p.Lys1028Asn) c.2265G>T (p.Lys755Asn) n.3816G>T
13	g.51939153C>G	CA388024368	ATP7B	c.1247G>C (n.1247G>C) c.2341G>C (n.2341G>C) c.2976G>C (p.Lys992Asn) c.3597G>C (p.Lys1199Asn) c.3264G>C (p.Lys1088Asn) c.3345G>C (p.Lys1115Asn) n.838G>C c.3363G>C (p.Lys1121Asn) n.3736G>C n.463G>C c.2532G>C (p.Lys844Asn) c.2307G>C (p.Lys769Asn) c.3402G>C (p.Lys1134Asn) c.1375G>C c.698G>C (n.698G>C) n.4341G>C n.2942G>C c.3453G>C (p.Lys1151Asn) c.3501G>C (p.Lys1167Asn) c.3561G>C (p.Lys1187Asn) c.3111G>C (p.Lys1037Asn) c.1413G>C (p.Lys471Asn) c.1230G>C (p.Lys410Asn) c.3462G>C (p.Lys1154Asn) c.3414G>C (p.Lys1138Asn) c.3183G>C (p.Lys1061Asn) c.3084G>C (p.Lys1028Asn) c.2265G>C (p.Lys755Asn) n.3816G>C
13	g.51939153C>T	CA483893802	ATP7B	c.1247G>A (n.1247G>A) c.2341G>A (n.2341G>A) c.2976G>A (p.Lys992=) c.3597G>A (p.Lys1199=) c.3264G>A (p.Lys1088=) c.3345G>A (p.Lys1115=) n.838G>A c.3363G>A (p.Lys1121=) n.3736G>A n.463G>A c.2532G>A (p.Lys844=) c.2307G>A (p.Lys769=) c.3402G>A (p.Lys1134=) c.1375G>A c.698G>A (n.698G>A) n.4341G>A n.2942G>A c.3453G>A (p.Lys1151=) c.3501G>A (p.Lys1167=) c.3561G>A (p.Lys1187=) c.3111G>A (p.Lys1037=) c.1413G>A (p.Lys471=) c.1230G>A (p.Lys410=) c.3462G>A (p.Lys1154=) c.3414G>A (p.Lys1138=) c.3183G>A (p.Lys1061=) c.3084G>A (p.Lys1028=) c.2265G>A (p.Lys755=) n.3816G>A
13	g.51939154T>A	CA388024378	ATP7B	c.1246A>T (n.1246A>T) c.2340A>T (n.2340A>T) c.2975A>T (p.Lys992Met) c.3596A>T (p.Lys1199Met) c.3263A>T (p.Lys1088Met) c.3344A>T (p.Lys1115Met) n.837A>T c.3362A>T (p.Lys1121Met) n.3735A>T n.462A>T c.2531A>T (p.Lys844Met) c.2306A>T (p.Lys769Met) c.3401A>T (p.Lys1134Met) c.1374A>T c.697A>T (n.697A>T) n.4340A>T n.2941A>T c.3452A>T (p.Lys1151Met) c.3500A>T (p.Lys1167Met) c.3560A>T (p.Lys1187Met) c.3110A>T (p.Lys1037Met) c.1412A>T (p.Lys471Met) c.1229A>T (p.Lys410Met) c.3461A>T (p.Lys1154Met) c.3413A>T (p.Lys1138Met) c.3182A>T (p.Lys1061Met) c.3083A>T (p.Lys1028Met) c.2264A>T (p.Lys755Met) n.3815A>T
13	g.51939154T>C	CA388024371	ATP7B	c.1246A>G (n.1246A>G) c.2340A>G (n.2340A>G) c.2975A>G (p.Lys992Arg) c.3596A>G (p.Lys1199Arg) c.3263A>G (p.Lys1088Arg) c.3344A>G (p.Lys1115Arg) n.837A>G c.3362A>G (p.Lys1121Arg) n.3735A>G n.462A>G c.2531A>G (p.Lys844Arg) c.2306A>G (p.Lys769Arg) c.3401A>G (p.Lys1134Arg) c.1374A>G c.697A>G (n.697A>G) n.4340A>G n.2941A>G c.3452A>G (p.Lys1151Arg) c.3500A>G (p.Lys1167Arg) c.3560A>G (p.Lys1187Arg) c.3110A>G (p.Lys1037Arg) c.1412A>G (p.Lys471Arg) c.1229A>G (p.Lys410Arg) c.3461A>G (p.Lys1154Arg) c.3413A>G (p.Lys1138Arg) c.3182A>G (p.Lys1061Arg) c.3083A>G (p.Lys1028Arg) c.2264A>G (p.Lys755Arg) n.3815A>G	gnomAD v4
13	g.51939154T>G	CA388024373	ATP7B	c.1246A>C (n.1246A>C) c.2340A>C (n.2340A>C) c.2975A>C (p.Lys992Thr) c.3596A>C (p.Lys1199Thr) c.3263A>C (p.Lys1088Thr) c.3344A>C (p.Lys1115Thr) n.837A>C c.3362A>C (p.Lys1121Thr) n.3735A>C n.462A>C c.2531A>C (p.Lys844Thr) c.2306A>C (p.Lys769Thr) c.3401A>C (p.Lys1134Thr) c.1374A>C c.697A>C (n.697A>C) n.4340A>C n.2941A>C c.3452A>C (p.Lys1151Thr) c.3500A>C (p.Lys1167Thr) c.3560A>C (p.Lys1187Thr) c.3110A>C (p.Lys1037Thr) c.1412A>C (p.Lys471Thr) c.1229A>C (p.Lys410Thr) c.3461A>C (p.Lys1154Thr) c.3413A>C (p.Lys1138Thr) c.3182A>C (p.Lys1061Thr) c.3083A>C (p.Lys1028Thr) c.2264A>C (p.Lys755Thr) n.3815A>C

Number of alleles fetched