Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson’s Disease

Table 2

Per sample and per amplicon coverage data.

Chromosome	Amplicon start	Amplicon end	Amplicon ID	Gene ID	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6
chr13	52520358	52520440	AMPL1102520485	ATP7B	812	484	378	9467	3557	3275
chr13	52542530	52542653	AMPL1102672008	ATP7B	951	390	145	3149	5510	3183
chr13	52538909	52539030	AMPL1404436522	ATP7B	9	2	2	2	4	46
chr13	52523735	52523838	AMPL561308261	ATP7B	417	285	89	245	683	2611
chr13	52518244	52518356	AMPL561308388	ATP7B	1140	520	339	7934	6166	3595
chr13	52516492	52516613	AMPL561312436	ATP7B	600	309	70	1510	3218	2152
chr13	52515134	52515253	AMPL561312709	ATP7B	799	287	74	1340	3258	2733
chr13	52520435	52520563	AMPL561312859	ATP7B	622	308	149	409	906	2130
chr13	52511616	52511742	AMPL561313522	ATP7B	343	233	58	1462	2168	1069
chr13	52548475	52548562	AMPL561315457	ATP7B	740	557	248	660	1251	3869
chr13	52548014	52548135	AMPL561316164	ATP7B	506	109	93	244	614	3077
chr13	52535952	52536073	AMPL561319098	ATP7B	345	332	62	1845	3919	1350
chr13	52532445	52532575	AMPL561319439	ATP7B	495	382	75	260	477	2421
chr13	52518332	52518433	AMPL561320185	ATP7B	445	574	270	852	1305	2147
chr13	52511401	52511536	AMPL561321003	ATP7B	899	422	181	3036	4216	2756
chr13	52523839	52523934	AMPL561322321	ATP7B	802	389	181	3872	3781	2867
chr13	52520556	52520638	AMPL561322791	ATP7B	836	630	362	9187	4465	3540
chr13	52534277	52534394	AMPL561324803	ATP7B	670	295	126	3402	3937	2458
chr13	52542654	52542747	AMPL561326888	ATP7B	755	503	272	811	1791	3775
chr13	52524407	52524535	AMPL561327019	ATP7B	215	139	38	126	250	1023
chr13	52516614	52516708	AMPL561328057	ATP7B	546	401	206	591	1259	2779
chr13	52515254	52515365	AMPL561328062	ATP7B	768	466	191	508	1239	3144
chr13	52513223	52513345	AMPL561328524	ATP7B	454	382	113	239	732	1771
chr13	52548563	52548672	AMPL561329883	ATP7B	836	384	149	3334	4618	3056
chr13	52511743	52511824	AMPL561330934	ATP7B	718	556	323	946	1461	3040
chr13	52532576	52532683	AMPL561335846	ATP7B	671	433	227	5882	4370	2749
chr13	52511497	52511615	AMPL561335849	ATP7B	813	494	353	857	1761	3297
chr13	52549016	52549114	AMPL561337443	ATP7B	453	347	167	3818	3121	2050
chr13	52534395	52534476	AMPL561338245	ATP7B	734	542	476	1282	2378	2732
chr13	52539048	52539119	AMPL561339230	ATP7B	532	448	394	9393	3563	2527
chr13	52544567	52544690	AMPL561342268	ATP7B	806	449	130	2523	3519	2674
chr13	52548673	52548782	AMPL561343055	ATP7B	512	446	158	513	1052	3022
chr13	52548136	52548260	AMPL561345064	ATP7B	826	442	128	2692	4578	2624
chr13	52549115	52549227	AMPL561347059	ATP7B	469	369	144	398	771	2612
chr13	52539120	52539203	AMPL561347740	ATP7B	787	737	877	3031	2553	4243
chr13	52509711	52509847	AMPL561353128	ATP7B	329	280	70	208	669	2063
chr13	52549228	52549346	AMPL561354995	ATP7B	720	232	59	900	2717	2418
chr13	52508853	52508964	AMPL561358361	ATP7B	660	455	181	4930	3832	2325
chr13	52548783	52548894	AMPL561361353	ATP7B	1286	639	267	7815	7277	3588
chr13	52544691	52544813	AMPL561365512	ATP7B	542	354	150	336	898	2919
chr13	52508959	52509084	AMPL561366430	ATP7B	694	574	217	630	1344	2208
chr13	52524093	52524178	AMPL561367088	ATP7B	368	315	5	31	82	2778
chr13	52524179	52524298	AMPL561373391	ATP7B	725	390	108	2697	4100	2724
chr13	52544814	52544931	AMPL561373418	ATP7B	235	52	34	618	1093	1651
chr13	52548893	52549018	AMPL561375011	ATP7B	498	471	103	239	550	2166
chr13	52509084	52509181	AMPL561375394	ATP7B	719	461	144	5037	3879	2163
chr13	52531644	52531756	AMPL561379526	ATP7B	512	234	80	1601	2656	2155
chr13	52548255	52548381	AMPL561399016	ATP7B	467	446	98	286	676	2965
chr13	52548382	52548474	AMPL561401395	ATP7B	247	124	69	1000	357	2414
chr13	52513106	52513229	AMPL561308165	c.3699+27T>C, ATP7B	560	372	88	1778	3799	2176
chr13	52585387	52585514	AMPL561308108	c.-36C>T, c.-75A>C, ATP7B	294	287	110	313	616	2859
chr13	52585831	52585931	AMPL1275480480	ATP7B	493	397	129	807	780	1389
chr13	52585851	52585971	AMPL1275480698	ATP7B	458	140	55	1205	1642	811
chr13	52534093	52534223	AMPL1275484758	ATP7B	140	230	35	69	187	2149
chr13	52585478	52585613	AMPL561317674	ATP7B	560	186	58	997	1619	1979