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ID	Internal code	Gender	Age	Family code	Mutation	COL4A5(cp)	COL4A4(cp)	COL4A3(cp)	Family member	Inheritance	Reference
1685	2470 seconda estrazione
1644									father
1645	2470								mother
1649	2474				no	‘’’’’	no		proband
1650	2475								father
1657	2481								amniotic fluid
1659	2463 bis						linkage	linkage	brother
1660	2482				ATS-MR?				proband
1662	2483				ATS-MR?		""	""	father	""
1663	2484				ATS-MR?				mother
1664
1667	2488								brother
1668	2489				no	no			proband
1723	2537								proband
1670	2491								mother
1637	2463						linkage	linkage	brother
1705	2416B								proband
1706	2417B								proband
1708	2522				yes			c.3655G>T p.G1219C	proband
1709	2523				no			no	son
1710	2524				yes			c.3655G>T p.G1219C	brother
1711	2525				yes	‘’’’	‘’’’	c.3655G>T p.G1219C	brother
1712	2526				yes			c.3655G>T p.G1219C	nephew
1713	2527				yes			c.3655G>T p.G1219C	brother
1714	2528				yes			c.3655G>T p.G1219C	daughter
2363	3543				na				father
2362	2066b				na				mother	""
2361	2065b				no				proband	""
1669	2490								father
1543	77
2617
1130	2065				no	no	no	""	proband	""
1131	2066				""	""	""	""	mother	""
1295
1302
2196
2453	2968 II								brother
2435
1487	139				no	""	""	""
1488	140
1489	141
2429
1643	2468								proband
1537	2373								proband
1638	998 bis				no	no			proband
1583	2416				no	no			proband
1621	2450								proband
1622	2451
1623	2452				no	2 sostituzioni non patogenetiche
1624	2453
1625	2757
1626	2455				no	no			proband
1632	696 bis
1633	697 bis
1634	698 bis
1635	2461				no		linkage	linkage
1636	2462						linkage	linkage	father
1658	2462 bis						linkage	linkage	father
1490	142
2025	2807								proband
1906	2620 B				no	‘’’’	no		proband
1929	2722
1930	2723
1932	2725				yes	c.4509G>T (p.G1436E)			proband
1933	2726				no	no			uncle
1934	2727				yes	c.4509G>T (p.G1436E) in eterozigosi			mother
1952	2722B								proband
1968	2761
1969	2762
1970	2763				no	no	no		proband
1971	2764				no	no			proband
1972	2765
1903	2703								proband
1974	2767
2051	2831				analysis not available				brother	Genetics
2276	2723(II estr.)
2048	2828				analysis not available				proband	Genetics
2049	2829				analysis not available				father	Genetics
2050	2830				analysis not available				mother	Genetics
1724	2538								brother
2052	2832				analysis not available				sister	Genetics
1651	2476								mother
2055	2455 B				no	n.a.	IVS28-5C>T + c.4080A>G p.P1360P + VUS c.3979A>G p.M1327V + c.4932C>T p.F1644F	n.a.
2097	2926				no	n.a.	n.a.		nephew
2169
2238	2763 II				no	no	no		proband
2186	2477 b								proband
1973	2766				no	no			proband
1780	2522 b arrivato come DNA				yes			c.3655G>T p.G1219C	proband
1725	2539								father
1726	2540								cousin
1902	2702								proband
1781	2527 b Arrivato come DNA				yes			c.3655G>T p.G1219C
1783	2593				no		no		proband
1799	2609				no	no
1812	2620 arrivato come DNA				no		no		proband
1851	2627 B
1852	2628 B
1853	2630 B
1854	2629 B								mother
1858	2658								mother
1859	2659				no	‘’’’	no		proband
1860	2660								father
1887	2687				yes	c.1193G>A (p.G331S)			proband
1901	2701								mother
1890	2690								brother
1888	2688								father
1871	2671								father
1870	2670				yes	c.2194G>T (p.K664N) non patogenetica			mother
1861	2661								sister
1869	2669				yes	c.2194G>T (p.K664N) non patogenetica			proband
2727	2468 II								proband
1862	2662								mother
1889	2689								mother
3165	166/2013	F	6		yes	c.3700C>T p.Gln1234*			proband	XL
3154	477/2013	M	66		na				father
3155	478/2013	F	69		na				mother
3160	160/2013	F	17		yes	c.2473G>A p.Gly825Arg			proband
3048	2669 b				yes	c.2194G>T p.K664N			proband
3162	162/2013	F	54		na				mother
3174	197/2013	F	51		no		c.3356G>C p.Arg1119Thr VUS		mother
3164	164/2013	F	37		no			c.2681T>C p.Met894Thr VUS	proband	AD/AR
3150	135/2013	M	65		na				father
3166	167/2013	M	4		na				brother	XL
3167	168/2013	F	40		na				mother	XL
3168	169/2013	F	5		yes	c.1117C>T p.Arg373X			proband	XL
3169	170/2013	F	13		no				proband
3170	171/2013	F	19		yes	c.2184delG p.Gly728fs*8			proband	XL
3173	196/2013	F	20		no		c.3356G>C p.Arg1119Thr VUS		proband
3163	163/2013	F	6		yes	c.649_656delAATAGGG p.Asn217Leufs*9			proband	XL
3144	76/2013	M	32		na				father
2788	2737 lavato				na
3051	3717				no				proband
2996	3673 II				no				daughter
2995	3673 I				no				daughter
3213	1486/2013	M	66		n.p.				proband
3134	3769				no				proband
3153	140/2013	M	40		no				proband
3143	75/2013	F	5		no				proband
3151	136/2013	F	?		na				mother
3145	77/2013	F	31		na				mother
3146	78/2013	F	7		na				sister
3147	79/2013	M	4		na				brother
3148	80/2013	F	14		no				proband
3149	134/2013	M	48		no				proband
3161	161/2013	M	59		na				father
3142
3202	669/2013	M	42		n.p.				proband
3193	483/2013	M			yes		c.755G>T p.Gly252Val		proband
3194	509/2013	M	13		yes		c.3134G>T p.G1045V; c.3440C>T p.S1147F in cis		son
3195	510/2013	M	2		no				son
3196	556/2013	F	58		n.p.				proband
3197	580/2013	M	1		yes	c.2510-1G>C			son
3198	592/2013	F	8		n.p.				proband
3199	593/2013	F	40		n.p.				mother
3192	442/2013	M	38						proband
3201	595/2013	M	46		n.p.				father
3203	762/2013	F	40		n.p.				proband
3204	767/2013	?	25		yes	c.2684 p.Gly828Arg			fetus
3159	159/2013	F	42		yes	c.1835G>A p.Gly612Asp	c.559-142C>T VUS		proband
3208	1314/2013	F	30		no				daughter
3209	1352/2013	M			yes	c.4977-1 G>A			proband
3210	1353/2013	F			yes	c.4977-1 G>A			mother
3211	1535/2013	F	35		n.p.				proband
3212	1536/2013	F	57		n.p.				mother
3200	594/2013	F	18		n.p.				sister
3186	391/2013	F	49		n.p.				wife
3181	386/2013	M	11		no		c.490-40T>C VUS; c.559-21A>G VUS		proband
3183	388/2013	F	39		na				mother
3184	389/2013	M	55		n.p.				proband
3185	390/2013	M	12		n.p.				son
3182	387/2013	M	40		na				father
3187	410/2013	F	30		n.p.				proband
3188	411/2013	M	53		n.p.				father
3189	412/2013	F	49		n.p.				mother
3191	1296/2013	F	49		no				mother
3205	786/2013	M	4		n.p.				proband
3190	424/2013	M	31		yes		c.2638G>A p.Gly880Arg		son
1060	996			""	""	""	""	""	proband	""
925	860			""	""	""	""	""	proband	AD
1021	956			""	""	""	""	""	proband	""
1062	998			""	no	no	""	""	proband	""
1057	993			""	""	""	""	""	proband	""
1050	985			""	""	""	""	""	""	""
1000	935			""	""	""	""	""	""	""
1001	936			""	""	""	""	""	""	""
1049	984			""	""	""	""	""	proband	""
1048	983			""	""	""	""	""	""	""
1047	982			""	""	""	""	""	""	""
1024	959			""	""	""	""	""	""	""
1032	967			""	m-yes	""	""	""	proband	""
1031	966			""	no	no	no	no	aunt	""
1030	965			""	no	no	no	no	proband	ad
1029	964			""	no	no	no	no	nephew
1028	963			""	no	no	no	no	son	""
1044	979			""	""	""	""	""	""	""
1026	961			""	""	""	""	""	proband	""
1046	981			""	""	""	""	""	""	""
1023	958			""	""	""	""	""	proband	""
1022	957			""	""	""	""	""	""	""
1080	2015			""	""	""	""	""	""	""
1035	971			""	""	""	""	""	""	""
1070	2006			""	""	""	""	""	""	""
1045	980			""	""	""	""	""	""	""
1027	962			""	""	""	""	""	""	""
1123	2058			""	""	""	""	""	""	""
1076	2012			""	""	""	""	""	""	""
1073	2009			""	""	""	""	""	""	""
1034	970			""	""	""	""	""	proband	""
507	319			""	""	""	""	""	""	""
1124	2059			""	""	""	""	""	""	""
1122	2057			""	yes	glu1180STOP	""	""	proband	""
1105	2040			""	""	""	""	""	""	""
1101	2036			""	""	""	""	""	""	""
1077	2013			""	""	""	""	""	""	""
1127	2062			""	""	""	""	""	""	""
1075	2011			""	""	""	""	""	""	""
1074	2010			""	""	""	""	""	""	""
2938	2057 (sorella di)			""	yes	glu1180STOP	""	""	sister	""
2030	2810			“‘					mother
2031	2811			“‘					father
2036	2819			“‘					son
2029	2809			“‘					brother
1387	C8201			08					sister	AR
1392	C8206			08					sister	AR
1391	C8205			08					sister	AR
1390	C8204			08					brother	AR
1388	C8202			08					proband	AR
1389	C8203			08					sister	AR
1393	C10101			10					father	AR
1394	C10201			10					sister	AR
1396	C10205			10					sister	AR
1395	C10204			10					brother	AR
1398	C10207			10					sister	AR
1397	C10206			10					proband	AR
1424	C14101			14					mother	AR
1425	C14201			14					sister	AR
1426	C14202			14					proband	AR
1443	C16303			16						AR
1442	C16302			16						AR
1441	C16204			16						AR
1440	C16202			16						AR
1439	C16201			16						AR
1445	C17102			17					father	AR
1446	C17201			17					son	AR
1444	C17101			17					proband	AR
1436	C18205			18					proband	AR
1438	C18207			18					sister	AR
1434	C18203			18					sister	AR
1433	C18202			18					sister	AR
1432	C18201			18					brother	AR
1431	C18103			18					uncle	AR
1435	C18204			18					sister	AR
1437	C18206			18					sister	AR
1402	C24205			24					sister	AR
1399	C24201			24					proband	AR
1400	C24203			24					sister	AR
1401	C24204			24					brother	AR
1410	C26303			26						AR
1409	C26302			26						AR
1408	C26301			26						AR
1407	C26205			26					sister	AR
1406	C26204			26					sister	AR
1405	C26203			26					proband	AR
1403	C26101			26					father	AR
1412	C26305			26						AR
1411	C26304			26						AR
1404	C26202			26					brother	AR
1414	C26307			26						AR
1413	C26306			26						AR
1420	C27202			27						AR
1423	C27205			27						AR
1421	C27203			27						AR
1419	C27201			27						AR
1418	C27106			27					sister	AR
1416	C27104			27					proband	AR
1422	C27204			27						AR
1415	C27101			27					sister	AR
1417	C27105			27					sister	AR
1429	C30103			30						AR
1428	C30102			30						AR
1430	C30201			30						AR
1427	C30101			30						AR
1282	2886			ABR	segregation analysis not available				son
1281	2885			ABR	segregation analysis not available				husband
1280	2884			ABR	no			n.a.	proband
2953	3636			ACA	na				brother
2954	3637			ACA	na				father
2952	3635			ACA	no				proband
2955	3638			ACA	na				mother
875	805			ACC	no	no	no	no	mother	""
874	804			ACC	no	no	no	no	""	""
877	807			ACC	no	no	no	no	father	""
876	806			ACC	no	no	no	no	""	""
878	808			ACC	m-no	no	no	no	proband	AR
2944	3629	F	37	ACQ	yes		c.4394 G>A p.Gly1465Asp, VUS c.17T>C p.Ile6Thr		proband	AD	Fallerini C, et al. Clin Genet. 2013 Sep 4. doi: 10.1111/cge.12258. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/24033287
2945	3630	M	15	ACQ	no				son
2946	3631	M	34	ACQ	na				brother
3180	296/2013	M	14	ACQ	no				son
3139	3774			AGI		NGS	NGS	NGS	proband
2747	3404			AGN	na				father
2746	3403			AGN	no				proband
2748	3405			AGN	na				mother
2751	3406			AGN	na				sister
698	618.AP			AGO	m-yes	""	""	""	""	""
2540	616.AG b			AGO	yes	c.1A>G , p. M1V	n.a.	n.a.	""	""
697	617.AB			AGO	m-yes	""	""	""	proband	X-3
696	616.AG			AGO	m-yes	""	""	""	""	""
1609	2439			AGR
1608	2438			AGR
1607	2437			AGR	no	no	no		proband
2308	3504			AGT	no				maternal aunt
2310	3504 II			AGT	no				maternal aunt
2704	3363			AGT	yes	c.3390G>A(p.G1063D)			mother
2385	3562			AGT	no	no			cousin
2703	3362			AGT	yes	c.3390G>A(p.G1063D)			proband
1943	2736			AJH					proband
2793	3443			ALC	na				maternal aunt
2792	3442			ALC	na				mother
2791	3441			ALC	no				proband
2794	3444			ALC	na				cousin
1347	2311			ALF					nephew
1346	2310			ALF	no	no			nephew
1348	2312			ALF					son
1350	2314			ALF					proband
1349	2313			ALF					daughter in law
1809	2618			ALL	yes	c.1588T>A p.S461T			proband
1459	034.AG			AMB	m-yes	""	""	""	proband	X-2
1458	034.AG			AMB	m-yes	""	""	""	proband	X-2
1482	034.AG			AMB	m-yes	""	""	""	proband	X-2
302	059.DG			AMB	m-yes	""	""	""	""	""
301	034.AG			AMB	m-yes	""	""	""	proband	X-2
2821	3462			AMO	no				proband
2822	3463			AMO	na				father
2823	3464			AMO	na				mother
1999	2782			AND	yes	c.4402_4404delC (p.G1400fsX1548)			proband
2668	3328			ANE	yes	del ex30-41	n.a.	n.a.	proband
3092	3741			ANI	yes	c.1871G>A p.Gly624Asp			proband
2742	3399			ANL	yes	c. 2546G>A p.Gly849Glu			proband
2744	3401			ANL	na				mother
2745	3402			ANL	na				brother
2743	3400			ANL	na				father
1541	2377			ANN					proband
1542	2378			ANN					mother
841	763			ANT	""	""	""	""	nephew	""
840	762			ANT	""	""	""	""	nephew	""
838	760			ANT	m-yes	G1134V	""	""	proband	X-5?
836	758			ANT	yes	G1134V	""	""	nephew	""
837	759			ANT	yes	G1134V	""	""	daughter	""
839	761			ANT	yes	G1134V	""	""	nephew	""
770	705.AV			ANZ	""	""	""	""	proband	X-6?,AR
771	706.ZF			ANZ	""	""	""	""	""	""
772	707.AG			ANZ	""	""	""	""	""	""
773	708.AV			ANZ	""	""	""	""	""	""
2856	3488 A arrivato come DNA			ARC	no				proband
2857	3488 B arrivato come DNA			ARC	no				proband
2859	3488 D arrivato come DNA			ARC	no				proband
2858	3488 C arrivato come DNA			ARC	no				proband
215	277.AA			ARG	m-no	""	""	""	""	""
218	280.AA			ARG	m-no	""	""	""	""	""
217	279.AA			ARG	m-yes	""	""	""	""	""
216	278.AA			ARG	m-yes	""	""	""	proband	X-2
813	748			ARM	no	no	no	no	mother	""
811	746			ARM	m-no	no	no	no	proband	SP
812	747			ARM	no	no	no	no	father	""
286	234.SR			ASC	""	""	""	""	""	""
291	239.SA			ASC	""	""	""	""	""	""
290	238.SN			ASC	""	""	""	""	""	""
289	237.SL			ASC	""	""	""	""	""	""
288	236.SG			ASC	""	""	""	""	""	""
287	235.CE			ASC	""	""	""	""	""	""
292	240.AM			ASC	yes	c.1238G>V	""	""	proband	X-11
496	531.LA			ASU	""	""	""	""	""	""
498	539.AR			ASU	""	""	""	""	""	""
497	532.GP			ASU	""	""	""	""	proband	AR-7
2842	3475			ATN	na				father
2843	3476			ATN	na				mother
2844	3477			ATN	na				brother
2845	3478			ATN	na				brother
2841	3474			ATN	no				proband
757	690.AC			ATZ	""	""	""	""	proband	AR-5
2376	3554			AVA	na				grandmother
2373	3551			AVA	no				proband
2374	3552			AVA	na				brother
2375	3553			AVA	na				father
485	533.ZM			AZH	""	""	""	""	proband	X-2
2326	2600 b arrivato come DNA			BAA	yes	1907dupl45			sister
2327	vl 466			BAA	villi coriali				sister
1790	2600			BAA	yes	1907dupl45			sister
1916	2711			BAA	yes	1907dupl45			proband
790	725			BAA	""	""	""	""	mother	""
791	726			BAA	""	""	""	""	""	""
2431	3125			BAA	no				daughter
2430	3124			BAA	yes	ins. 45 bp- ex 24			son
2032	2812			BAA	villi				villi
2047	2827			BAA	yes	p.P569_L583dup	n.a.	n.a.	proband
789	724			BAA	m-yes	1907dupl45	""	""	proband	X-3
2143	2971			BAC	yes		c.4129C>T p.R1377X		mother
2142	2970			BAC	no				father
2141	2969			BAC	yes	n.a.	c.4129C>T p.R1377X	n.a.	proband
2140	2968			BAC	yes		c.4129C>T p.R1377X		brother
2440	2969 II estrazione			BAC	yes	n.a.	c.4129C>T p.R1377X	n.a.	proband
2441	2970 II estrazione			BAC	no				father
2442	2971 II estr.			BAC	yes		c.4129C>T p.R1377X		mother
885	815			BAD	m-no	no	""	""	nephew	""
886	816			BAD	m-yes	G325R	""	""	daughter	""
887	817			BAD	m-no	no	""	""	nephew	""
888	818			BAD	m-yes	G325R	""	""	sister	""
576	470.BI			BAD	m-yes	G325R	""	""	daughter	""
575	469.BI			BAD	m-yes	G325R	""	""	proband	X-2
2983	3662			BAG	yes			c.4958G>T p.Gly1653Val	proband
303	062.BR			BAL	sì	c.363G>A, p.Gly54Asp				""
304	063.BS			BAL	sì	c.363G>A, p.Gly54Asp				""
305	064.BG			BAL	m-yes	c.363G>A, p.Gly54Asp			proband	X-3
2950	062.BRb II			BAL	yes	c.363G>A, p.Gly54Asp			fam
2949	062.BRb I			BAL	yes	c.363G>A, p.Gly54Asp			fam
2377	3280b			BAN	na				proband
2619	3280			BAN	no		n.a.	n.a.	proband
227	209.BS			BAR	""	""	""	""	""	""
2338	3525			BAR	yes	c.1340G>T (p.G380C)			cousin
228	210.BC			BAR	""	""	""	""	""	""
2044	2824			BAR	yes	c.1340G>T p.G380C	n.a.	n.a.	proband
225	207.BG			BAR	""	""	""	""	""	""
224	206.BL			BAR	""	""	""	""	proband	X-4
2042	2822			BAR	yes	c.1340G>T p.G380C			maternal uncle
2043	2823			BAR	yes	c.1340G>T p.G380C			mother
226	208.BM			BAR	""	""	""	""	""	""
2971	3651			BAR	no				sister
2972	3652			BAR	no				sister
2349	3535			BAU	na				daughter
2348	3534			BAU	na				daughter
2347	3533			BAU	no				proband
3156	142/2013	F	68	BAU	no				mother
3157	143/2013	F	40	BAU	no				sister
3158	144/2013	F	40	BAU	no				mother
2975	3655			BAZ	no				proband
2521	3196			BCC	analysis not available				mother
2520	3195			BCC	yes	c. 2230T>G p.Asp676Glu			proband
2525	3200			BCC	yes	c. 2230T>G p.Asp676Glu			uncle
2278	3088			BCH	no		n.a.	n.a.
1228	2248			BDD	""	""	""	""	brother	""
1230	2250			BDD	""	""	""	""	mother	""
1227	2247			BDD	""	""	""	""	sister	""
1226	2246			BDD	""	""	""	""	sister	""
1229	2249			BDD	yes	""	""	c.1504+2T>A	proband	""
1225	2245			BDD	""	""	""	""	father	""
804	739			BDO	m-no	no	""	""	proband	X-2
803	738			BDO	""	""	""	""	mother	""
802	737			BDO	""	""	""	""	""	""
2543	3215			BEH	no		n.a.	n.a.	proband
2725	3384			BEL	na				proband
2825	3465			BEL	na				brother
2826	3466			BEL	na				father
2827	3467			BEL	na				mother
2824	3384 b			BEL	no				proband
2319	3513			BEN	yes	c.1701G>A p.G500D			proband
2320	3514			BEN	yes	c.1701G>A p.G500D			daughter
501	212.BE			BER	no	no	no	no	""	""
506	247.BD			BER	no	no	no	no	""	""
503	243.BN			BER	no	no	no	no	proband	EX
2149	2977			BER	NON ALPORT ma gene UMOD
2927	3620			BER	no				proband
1152	2087			BEV	""	""	""	""	""	""
1153	2088			BEV	""	""	""	""	""	""
1155	2090			BEV	""	""	""	""	""	""
1154	2089			BEV	""	no	""	""	proband	""
1770	2584			BEZ
1765	2578			BEZ	no	no	no		proband
1766	2579			BEZ
1773	2587			BEZ
2026	2578 b			BEZ					proband
1771	2585			BEZ
1772	2586			BEZ
1767	2580			BEZ
1768	2581			BEZ
1769	2583			BEZ
1020	955			BFH	“”	“”	""	""	""	""
1017	952			BFH	no	no - effettuata analisi linkage	""	""	proband	""
1019	954			BFH	""	""	""	""	""	""
1016	951			BFH	""	""	""	""	""	""
1018	953			BFH	""	""	""	""	""	""
962	897			BFZ	m-no	no	""	""	proband	X
961	896			BFZ	""	""	""	""	mother	""
415	073.BL			BGI	""	""	""	""	proband	EX
417	075.GD			BGI	""	""	""	""	""	""
416	074.GS			BGI	""	""	""	""	""	""
372	031.BV			BIA	""	""	""	""	proband	NV
371	030.RR			BIA	""	""	""	""	""	""
778	713.BC			BIG	""	""	""	""	proband	AR-3
2572	3242			BIG					proband
3049	3242 b			BIG	yes			c.1796G>A p.Gly599Glu	proband
660	595.BF			BIN	m-yes	""	""	""	proband	NV
3091	3740			BIZ	yes		c.1553G>A p.Gly518Glu	IVS c.2746+1G>T	proband
2357	3541			BLD	no				sister
2757	3414			BLD	yes	c.2045delG p.G615fsX617			mother
2358	3542			BLD	no				sister
2755	3412			BLD	yes	c.2045delG p.G615fsX617			proband
2756	3413			BLD	yes	c.2045delG p.G615fsX617			son
2171	2997			BLN	no	n.a.		n.a.	proband
2176	3002			BLN	segregation analysis not available				daughter
2172	2998			BLN	segregation analysis not available				son
2173	2999			BLN	segregation analysis not available				son
2174	3000			BLN	segregation analysis not available				daughter
2175	3001			BLN	segregation analysis not available				son
2177	3003			BLN	segregation analysis not available				sister
2178	3004			BLN	segregation analysis not available				nephew
2179	3005			BLN	segregation analysis not available				nephew
3090	3739			BLO	no				proband
1605	2435			BLT vedi 2284					proband
1321	2284			BLT vedi 2435	""	""	""	""	proband	""
3118	3754			BMB	yes			IVS c.3419-28delGTT	mother
3115	3752 A			BMB	yes			IVS c.3419-28delGTT	proband
3116	3752 B			BMB	yes			IVS c.3419-28delGTT	proband
3117	3753			BMB	no				father
49	303.ML			BMI	""	""	""	""	""	""
48	302.BF			BMI	""	""	""	""	proband	X-2
166	309.BC	M		BNC	""	""	""	""	proband	X-5
165	308.BO			BNC	""	""	""	""	""	""
374	342.BD			BND	""	""	""	""	""	""
373	341.BD			BND	no	no	no	no	proband	SP?-NV
375	343.B			BND	""	""	""	""	""	""
2544	3216			BNI	no		n.a.	n.a.	proband
2545	3217			BNI	segregation analysis not available				father
2546	3218			BNI	segregation analysis not available				mother
3093	3622b			BNN	yes	c.3427G>A (p.Gly1143Ser)			proband
2930	3622			BNN	yes	c.3427G>A p.Gly1143Ser			proband
1256	2862			BNT	segregation analysis not available				aunt
1255	2861			BNT	segregation analysis not available				mother
1257	2863			BNT	segregation analysis not available				cousin
1254	2860			BNT	no				proband
376	339.BA			BOI	""	""	""	""	proband	SP?
377	340.SE			BOI	""	""	""	""		""
32	179.BM			BOM	""	""	""	""	proband	X-2
33	180.BC			BOM	""	""	""	""	""	""
846	768			BON	""	""	""	""	""	""
1103	2038			BON	""	""	""	""	""	""
848	770			BON	""	""	""	""	""	""
849	771			BON	m-no	no	""	""	proband	X
1066	2002			BON	""	""	""	""	proband	"47,XXY
1102	2037			BON	""	""	""	""	""	""
847	769			BON	""	""	""	""	""	""
1175	2110			BOS	""	""	""	""	proband	""
2423	3118			BOT	yes	IVS28+1 G>T	n.a.	n.a.	proband
2426	3121			BOT	segregation analysis not available				mother
2425	3120			BOT	segregation analysis not available				brother
2424	3119			BOT	segregation analysis not available				father
87	2177			BRA	m-no	no	""	""	proband	""
2462	3151			BRB	segregation analysis not available				father
2461	3150			BRB	no			n.a.	proband
2463	3152			BRB	segregation analysis not available				mother
2833	3151b			BRB					father
2831	3152b			BRB					mother
1719	2533			BRD	no		no
1722	2536			BRD	yes		c.4900T>A (p.C1634S) in eterozigosi
1718	2719			BRD	no		no
1717	2531			BRD	no		no
1716	2530			BRD	yes		c.4900T>A (p.C1634S) in eterozigosi
1720	2534			BRD	no		no
1721	2535			BRD	yes		c.4900T>A (p.C1634S) in eterozigosi
1715	2529			BRD	yes		c.4900T>A (p.C1634S) in eterozigosi		proband
1005	940			BRF	""yes	""IVS49-2A>C	""	""	proband	X
1006	941			BRF	""	""	""	""	mother	""
2557	2847 b			BRG	yes	IVS50+3A>G			proband	AD
2068	2845			BRG	no				mother	AD
2069	2846			BRG	no				father	AD
2070	2847			BRG	yes	IVS50+3A>G			proband	AD
2071	2848			BRG	segregation analysis not available				paternal grandfather	AD
3082	3619b			BRN	no				proband
2926	3619			BRN	no				proband
866	796			BRO	""	linkage	""	""	sister	""
868	798			BRO	""	linkage	""	""	sister	""
869	799			BRO	""	linkage	""		maternal grandmother	""
865	795			BRO	""	linkage	""	""	father	""
870	800			BRO	""	linkage	""	""	maternal uncle	""
872	802			BRO	""	""	""	""	maternal uncle	""
873	803			BRO	m-yes	p.1488S>C			proband	X
871	801			BRO	""	linkage	""	""	maternal aunt	""
867	797			BRO	""	linkage	""	""	mother	""
533	427.BD			BRS	""	""	""	""	proband	X-12
535	429.MC			BRS	""	""	""	""	""	""
534	428.B			BRS	""	""	""	""	""	""
1895	2695			BRU	yes	ivs43-3C>G			daughter
1661	2485			BRU	no	no	""	""	son	""
2249	3067			BRU	no	VUS c.4265T>C; p.G1354G			sister
2248	3066			BRU	no	VUS c.4265T>C; p.G1354G			sister
1168	2103			BRU	yes	splic. 3’ intr 43 4200-3 c->g + G1354G (ggt->ggc)	""	""	proband	""
2664	3324			BRV	yes	IVS46-1G>T			father	Cons 3366
2663	3323			BRV	yes	IVS46-1G>T			proband	Cons 3366
3009	3682			BRZ	yes	c. 1871G>A p.Gly624Asp			proband
3011	3684			BRZ	na				mother
3010	3683			BRZ	na				father
2510	3186	F	40	BTS	analysis not available				mother
2509	3185	M	41	BTS	analysis not available				father
2508	3184	F	8	BTS	yes		c.217C>T p.Q37X	IVS24-15T>G	proband		Fallerini C, et al. Clin Genet. 2013 Sep 4. doi: 10.1111/cge.12258. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/24033287
2511	3187	M	42	BTS	analysis not available				maternal uncle
2512	3188	M	76	BTS	analysis not available				mother's uncle
2513	3189	M	3	BTS	analysis not available				brother
2536	3211			BTT	segregation analysis not available				mother
2535	3210			BTT	segregation analysis not available				father
2534	3209			BTT	no		n.a	n.a	proband
159	295.BS			BUC	""	""	""	""	""	""
158	294.BP			BUC	""	""	""	""	""	""
160	296.BA	M		BUC	""	""	""	""	proband	EX X-4
2681	3341			BUS	na				proband
2170	2996			BVL	yes	VUS c.913A>G p.Pro237Pro		c.3134G>T p.G1045V	proband
2342	3529			BZZ	na/dna rispedito al mittente				proband
281	027.CG			CAC	m	""	""	""	""	""
282	028.CR			CAC	m	""	""	""	""	""
283	029.CM			CAC	m-yes	""	""	""	proband	X-8
2499	3175			CAD	yes	c.2711G>A p.G837S	n.a.	n.a.	proband
2111	2939			CAE	yes	c.3750G>T (p.G1170C)			mother
2112	2940			CAE	analysis not available
2113	2941			CAE	yes	c.3750G>T (p.G1170C)	n.a.	n.a.	proband
2114	2942			CAE	yes	c.3750G>T (p.G1170C)			brother
1910	2706 / arrivato come DNA da Trieste			CAG	no	no			proband
2101	2930			CAG	no		n.a.	n.a.	proband
2102	2931			CAG	segregation analysis not available				father
1095	2030			CAL	""	""	""	""	""	""
1096	2031			CAL	""	""	""	""	""	""
1094	2029			CAL	yes	p.624G>D	""	""	proband	""
2712	3371			CAN	no	no			proband
2633	3294			CAO	segregation analysis not available				mother
2632	3293			CAO	no		n.a.	n.a.	proband
1801	2611 = 153			CAP	m-yes
2	203.MA			CAP	m-yes	""	""	""	""	""
3	204.CM			CAP	m-no	""	""	""	""	""
1	153.CV			CAP	m-yes	""	""	""	proband	X-4
1802	2612 = 205			CAP	m-yes
4	205.CC			CAP	m-yes	""	""	""	""	""
645	580.CG			CAR	""	""	""	""	""	""
646	581.CF			CAR	""	""	""	""	proband	SP
647	582.PA			CAR	""	""	""	""	""	""
179	116.CI			CAS	""	""	""	""	sister	""
1384	118.CO			CAS	""	""	""	""	proband	X-3
176	113.CH			CAS	""	""	""	""	""	""
177	114.VC			CAS	""	""	""	""	mother	""
919	849			CAS	""	linkage	""	""	nephew	""
1380	114.VC			CAS	""	""	""	""	""	""
178	115.CG			CAS	""	""	""	""	father	""
1381	115.CG			CAS	""	""	""	""	""	""
180	117.CM			CAS	""	""	""	""	brother	""
1385	116.CI			CAS	""	""	""	""	""	""
917	847			CAS	""	linkage	""	""	maternal cousin	""
1383	117.CM			CAS	""	""	""	""	""	""
181	118.CO			CAS	""	""	""	""	proband	X-3
1382	116.CI			CAS	""	""	""	""	""	""
918	848			CAS	""	linkage	""	‘’’’	maternal aunt	""
986	921			CAS	""	""	""	""	""	""
1173	2108			CAS	""	""	""	""	""	""
1379	113.CH			CAS	""	""	""	""	brother	""
1918	2713			CAU	no	no	no		proband
2998	3675			CAV	no				proband
66	187.BA			CBR	""	""	""	""	""	""
67	188.CB			CBR	""	""	""	""	proband	X-6
3125	3761			CCC	yes			c.1029+4delA	mother
3123	3759			CCC	no				father
3124	3760			CCC	yes			c.1029+4delA	proband
1174	2109			CEC	no	no	no	""	proband	""
1822	2629			CEH					mother
1823	2630			CEH					sister
1821	2628			CEH					father
1820	2627			CEH					sister
1819	2626			CEH	no	‘’’’	no		proband
1850	2626 B			CEH	no	‘’’	no		proband
50	304.CM			CEL	""	""	""	""	""	""
53	386.CM			CEL	""	""	""	""	""	""
52	358.CG			CEL	""	""	""	""	proband	X-8
51	305.SA			CEL	no	""	""	""	daughter	""
280	085.CG			CEN	""	""	""	""	proband	NV
636	571.CF			CET	""	""	""	""	""	""
637	572.CM			CET	""	""	""	""	proband	X-2
298	095.GL			CGA	m-yes	""	""	""	""	""
299	096.CL			CGA	m-yes	""	""	""	proband	X-4
300	097.CN			CGA	m-yes	""	""	""	""	""
805	740			CGM	m-no	no	""	""	proband	X-3/AD
806	741			CGM	""	""	""	""	""	""
807	742			CGM	""	""	""	""	""	""
2830	742b			CGM	""	""	""	""	""	""
662	597.GM			CGN	""	""	""	""	proband	EX
661	596.CL			CGN	""	""	""	""	""	""
2976	3656			CHC	no				proband
2576	3245			CHE	segregation analysis not available				father
2575	3244			CHE	no		n.a.	n.a.	proband
2577	3246			CHE	segregation analysis not available				mother
689	630.CR			CHI	no	no	no	no	""	""
688	629.VM			CHI	no	no	no	no	""	""
690	631.CT			CHI	no	no	no	no	proband	SP
691	632.CC			CHI	no	no	no	no	""	""
3140	631.CT b			CHI	yes			c. 3835A>T p.Lys1279*	proband
1188	2123			CHU	""	""	""	""	""	""
1187	2122			CHU	""	""	""	""	""	""
1186	2121			CHU	""	""	""	""	proband	""
1185	2120			CHU	""	""	""	""	""	""
1184	2119			CHU	""	""	""	""	""	""
1009	944			CIA	""	""	""	""	""	""
1012	947			CIA	""	""	""	""	""	""
1010	945			CIA	""	""	""	""	""	AD
1011	946			CIA	no	no	""	""	proband	""
1219	2154			CIO	M-no	""	""	""	son	""
1221	2156			CIO	M-no	""	""	""	nephew	""
1218	2153			CIO	m-yes	p. G1351X	""	""	daughter	""
1222	2157			CIO	m-yes	p. G1351X	""	""	nephew	""
1217	2152			CIO	M-no	""	""	""	son	""
1220	2155			CIO	M-no	""	""	""	son-in-law	""
1215	2150			CIO	M-no	""	""	""	husband	""
1214	2149			CIO	M-yes	p. G1351X	""		proband	""
1216	2151			CIO	M-no	""	""	""	son	""
1323	2285			CIR	yes		c.4749-4752delTC (p. 1583fsX1632)		brother
1324	2286			CIR	yes	no	c.4749-4752delTC (p. 1583fsX1632)		proband
1325	2287			CIR	yes		c.4749-4752delTC (p. 1583fsX1632)		father
1326	2288			CIR	no		no		mother
2928	3621			CIS	no				proband
168	311.MP	M		CIV	m-yes	""	""	""	proband	X-6
169	312.MM			CIV	m-yes	""	""	""	""	""
167	310.CP			CIV	m-yes	""	""	""	""	""
2862	3491			CLA	na				brother
2860	3489			CLA	yes		c.4444delC p.Leu1482Trpfs*70		proband
2863	3492			CLA	na				mother
2861	3490			CLA	na				father
1251	2857			CLB	no		n.a.	n.a.	proband
1252	2858			CLB	segregation analysis not available				son
1253	2859			CLB	segregation analysis not available				daughter
2518	3193			CLC	segregation analysis not available				father
2517	3192			CLC	no				proband
2519	3194			CLC	segregation analysis not available				mother
2344	3192b			CLC	no				proband
2466	3155			CLL	segregation analysis not available				mother
2464	3153			CLL	no		n.a.	n.a.	proband
2465	3154			CLL	segregation analysis not available				sister
2356	3540			CLM	na				mother
2354	3538			CLM	no				proband
2355	3539_R			CLM	na/dna estratto da noi e rispedito				stepbrother
3097	3743 I°			CLN	no				proband
3098	3743 II°			CLN	no				proband
1150	2085			CLT	no	no	no	""	proband	""
624	518.GP			CMV	""	""	""	""	""	""
1099	2034			CMV	""	""	""	""	""	""
623	517.MC			CMV	""	""	""	""	""	""
622	516.MA			CMV	""	""	""	""	""	""
625	519.VD			CMV	yes	c.2535G>A	""	""	proband	X-6
621	515.CL			CMV	""	""	""	""	""	""
620	514.CG			CMV	""	""	""	""	""	""
2801	519.VD b			CMV	yes	c.2535G>A			proband
3152	137/2013	F	16	CMV	no				sister
2379	3556_R			CNN	na				sister
2380	3557_R			CNN	no				proband
2940	3556			CNN	na				sister
2941	3557			CNN	no				proband
863	780			CNO	""	""	""	""	proband	?
733	668.CE			CNT	m-?	""	""	""	""	""
734	669.CB			CNT	m-yes	""	""	""	proband	SP
732	667.CM			CNT	m-?	""	""	""	""	""
1372	997			COG	""	no	""	""	proband	""
1061	997			COG	""	no	""	""	proband	""
424	099.RG			COL	m-no	""	""	""	""	""
433	172.ST			COL	m-no	""	""	""	""	""
432	171.SG			COL	m-no	""	""	""	""	""
431	170.SG			COL	m-yes	""	""	""	""	""
1447	012.CM			COL	m-no	""	""	""	""	""
430	169.SL			COL	m-yes	""	""	""	""	""
427	166.SA			COL	m-no	""	""	""	""	""
428	167.RC			COL	m-yes	""	""	""	""	""
434	221.SL			COL	m-yes	""	""	""	""	""
425	100.SC			COL	m-no	""	""	""	""	""
429	168.CM			COL	m-no	""	""	""	""	""
423	098.SE			COL	m-yes	""	""	""	""	""
422	013.ML			COL	m-no	""	""	""	""	""
421	012.CM			COL	m-no	""	""	""	""	""
420	011.CR			COL	m-no	""	""	""	""	""
1456	009.SE			COL	m-yes	""	""	""	""	""
419	010.CV			COL	m-yes	""	""	""	proband	X-13
418	009.SE			COL	m-yes	""	""	""	""	""
1450	010.CV			COL	m-yes	""	""	""	proband	X-13
426	101.SG			COL	m-yes	""	""	""	""	""
2685	3345			CON	na				father
2682	3342			CON	yes	ivs32-11A>G + p.Pro1584Serfs*16			proband
2683	3343			CON	na				maternal grandmother
2684	3344			CON	na				maternal uncle
2686	3346			CON	no				brother
2687	3347			CON	yes	ivs32-11A>G			mother
2688	3348			CON	yes	ivs32-11A>G			maternal grandfather
2689	3349			CON	no				sister
3132	3767			CONTI	yes		c.1837G>A p.Gly613Arg		proband
3056	3722			COO	no				proband
1483	017.CG			COR	""	""	""	""	proband	X-8
1452	002.CR			COR	""	""	""	""	""	""
437	003.CS			COR	""	""	""	""	""	""
1485	001.CM			COR	""	""	""	""	""	""
438	004.CF			COR	""	""	""	""	""	""
435	001.CM			COR	""	""	""	""	""	""
439	005.CA			COR	""	""	""	""	""	""
440	017.CG			COR	""	""	""	""	proband	X-8
441	018.CF			COR	""	""	""	""	""	""
436	002.CR			COR	""	""	""	""	""	""
1109	2044			COS	""	""	""	""	""	""
1113	2048			COS	""	no	""	no	proband	""
1112	2047			COS	""	""	""	""	""	""
1110	2045			COS	""	""	""	""	""	""
1111	2046			COS	""	""	""	""	""	""
1167	2102			COX	""	""	""	""	mother	""
579	473.CD			COZ	yes	no	no	si: 40del24	proband	AD
577	471.CC			COZ	yes	no	no	si: 40del24	father	""
578	472.AR			COZ	yes	no	no	no	mother	""
2341	3528			CPE	na				father
2339	3526			CPE	yes	c.614G>A, p.G138S, IVS10 +21T>C			proband
2340	3527			CPE	na				mother
1344	2308			CPP	no	no			proband
1345	2309			CPP					mother
2710	3369			CPU	na				mother
2711	3370			CPU	yes		c.4096_4098delC p.G1366fsX1387		father
2709	3368			CPU	yes		c.4096-4098delC, p.P1366 fsX 1387	IVS31-8G>A	proband
235	399.MM			CRD	m-yes	""	""	""	""	""
233	397.CP			CRD	m-yes	""	""	""	proband	X-3
234	398.CB			CRD	m-no	""	""	""	""	""
189	324.CG			CRI	no	no	no	no	proband	AR-2?
190	325.CR			CRI					sister	""
1729	2543			CRL					mother
1728	2542			CRL					father
1727	2541			CRL	no		no		proband
1731	2545			CRL
1730	2544			CRL					paternal aunt
2130	2958			CRO	segregation analysis not available
2129	2957			CRO	segregation analysis not available
2128	2956			CRO	no	n.a.		n.a.	proband
2131	2959			CRO	segregation analysis not available
2489	3167			CRR	no			n.a.	proband
2490	3168			CRR	segregation analysis not available				father
2491	3169			CRR	segregation analysis not available				mother
2293	3095			CRS	no	n.a.	no	n.a.	proband
2295	3097			CRS	segregation analysis not available				mother
2294	3096			CRS	segregation analysis not available				father
2834	3097b			CRS					mother
673	625.CP			CRT	m-yes	""	""	""	""	""
669	628.CG			CRT	m-yes	""	""	""	""	""
670	627.DA			CRT	m-yes	""	""	""	""	""
672	626.CG			CRT	m-yes	""	""	""	proband	X-3
671	624.CV			CRT	m-no	""	""	""	""	""
2705	3364			CRV	no	no			proband
3103	3745			CSA	yes		c.226A>G p.I76V	c.2282_2283delGA p.Gly762Glnfs*23	father
3102	3744			CSA	yes		c.226A>G p.I76V	c.2282_2283delGA p.Gly762Glnfs*23	proband
3105	3747			CSA	yes		c.226A>G p.I76V	c.2282_2283delGA p.Gly762Glnfs*23	sister
3106	3748			CSA	no				mother
3104	3746			CSA	no				brother
237	331.CS			CSI	""	""	""	""		""
236	330.SL			CSI	""	""	""	""	proband	X-5
2028	2808			CSL	no	no			proband
307	351.CG			CSN	m-yes	G781X	""	""		X-2
306	352.PL			CSN	m-yes	G781X	""	""	""	""
2798	3448			CSO	na				mother
2797	3447			CSO	na				father
2796	3446			CSO	no				proband
2795	3445			CSO	na				proband
1692	2168B			CST	yes			p.G1045V	son
1691	2169B			CST	yes			p.G1045V	proband
1688	2508			CST	no	""		no	brother
1689	2167B			CST	no			no	brother
1687	2507			CST	no	""		no	nephew
1690	2171B			CST	yes			p.G1045V	brother
86	2176			CST	yes	""	""	p.G1045V	nephew	""
78	2168			CST	yes	""	""	p.G1045V	nephew	""
79	2169 (+2167)			CST	yes	""	""	p.G1045V	brother	AD
80	2170			CST	yes	""	""	p.G1045V	nephew	""
81	2171			CST	yes	""	""	p.G1045V	brother	""
82	2172			CST	yes	""	""	p.G1045V	son	""
83	2173			CST	yes	""	""	p.G1045V	nephew	""
84	2174			CST	yes	""	""	p.G1045V	son	""
77	2167 + (2169)			CST	no	""	""	no	brother	""
85	2175			CST	yes	""	""	p.G1045V	proband	""
2883	3588			CTC	yes				son
2880	3585			CTC	yes	C. 3835A>T p.Lys1279*			brother
2881	3586			CTC	yes				daughter
2882	3587			CTC	no				daughter
2879	3584			CTC	yes	C. 3835A>T p.Lys1279*			proband
512	361.CL			CTN	""	""	""	""	proband	SP
509	321.RB			CTO	""	""	""	""	""	""
197	260.CS			CTO	""	""	""	""	""	""
196	259.CS			CTO	""	""	""	""	""	""
195	258.CD	M		CTO	""	""	""	""	proband	AD?
194	257.TA			CTO	""	""	""	""	""	""
193	256.GI			CTO	""	""	""	""	""	""
191	254.CL			CTO	""	""	""	""	""	""
192	255.GP	F		CTO	""	""	""	""	proband	""
2837	3470			CTT	no	no			son
2836	3469			CTT	na				husband
2835	3468			CTT	na				proband
2838	3471			CTT	na				mother
754	689.CS			CTU	no	no	no	no	""	""
756	692.CD			CTU	no	no	no	no	proband	SP
755	691.SN			CTU	no	no	no	no	""	""
2579	2136 D (bocca)			CUR	no				nephew	""
1117	2052			CUR	m-No	""	""	""	brother	""
1036	972			CUR	m-NO	""	""	""	nipote	""
1037	973			CUR	m-yes	p. G1241A	""	""	daughter	""
1038	974			CUR	m-yes	p. G1241A	""	""	nipote	""
1040	969			CUR	m-yes	p. G1241A	""	""	proband	""
1202	2137			CUR	m-yes	p. G1241A	""	""	daughter	""
2578	2136 C (cute)			CUR	no				nephew	""
1114	2049			CUR	m-yes	p. G1241A	""	""	sister	""
1116	2051			CUR	m-No	""	""	""	sister	""
1199	2134			CUR	m-No	""	""	""	son in law	""
1200	2135			CUR	m-yes	p. G1241A	""	""	nephew	""
1201	2136			CUR	m-No	""	""	""	nephew	""
1039	975			CUR	m-NO	""	""	""	father	""
2194	2135B			CUR	no				nephew	""
1115	2050			CUR	m-No	""	""	""	brother	""
2195	2136B			CUR	no				nephew	""
2371	3550			CZL	na				mother
2370	3549			CZL	na				father
2369	3548			CZL	na				brother
2368	3547			CZL	no				proband
2903	3604			CZN	no				proband
2420	3115			CZZ	no		n.a.	n.a.	proband
2421	3116			CZZ	segregation analysis not available				father
2422	3117			CZZ	segregation analysis not available				mother
2804	3116 II			CZZ					father
2806	3116 III			CZZ					father
1686	2506			DAE	yes	p.Gly325Arg, c.1175G>A			proband
2939	2506b			DAE	yes	p.Gly325Arg, c.1175G>A			proband
3015	3688			DAF	no				proband
3018	3690			DAF	na				father
3017	3689			DAF	na				mother
1606	2436			DAG	sì		IVS28+2T>G
2538	3213			DAG	yes		IVS28+2T>G		sister
2539	2369 b			DAG	yes		IVS28+2T>G		father
1534	2370			DAG	yes		IVS28+2T>G		proband
1533	2369			DAG	sì		IVS28+2T>G		father
155	2244			DAM	no	delezione COL4A5 - COL4A6	""	""	mother	""
154	2243			DAM	no	delezione COL4A5 - COL4A6	""	""	proband	""
1884	2684			DAO	no	no			proband
1883	2683			DAO					aunt mat
1882	2682			DAO					mother
1881	2681			DAO					brother sano
1880	2680			DAO					sister sana
1879	2679			DAO					aunt mat
1878	2678			DAO					maternal grandmother's sister
1877	2677			DAO					father
401	253.DT			DAV	""	""	""	""	proband	SP?
529	415.BG			DBB	""	""	""	""	""	""
530	416.DR			DBB	""	""	""	""	proband	EX AR?
2417	3113			DBC	segregation analysis not available				father
2415	3111			DBC	yes		VUS c.3979G>A,p.M1327V + c.4080G>A,p.P1360P + c.4548A>G,p.V1516V + c.3594G>A,p.G1198G	c.1354G>A, p.G452R + VUS c.485A>G,p.E162G, IVS5+73C>T, VUS c.422T>C,p.L141P, IVS29+100G>A, IVS4-40T>G,VUS c.1721C>T,p.P574L + VUS c.127G>C,p.G43R + VUS c.4207T>C,p.S1403P + IVS33-128A>C	proband
2416	3112			DBC	segregation analysis not available				mother
735	670.DM			DBT	m-yes	p.G1379V	""	""	proband	X-6?
736	671.FL			DBT	m-yes	p.G1379V	""	""	""	""
1497	014.ON			DBT	m-yes	p.G1379V			aunt
556	450.BR			DCC	""	""	""	""	""	""
559	453.DB			DCC	""	""	""	""	""	""
557	451.GA			DCC	""	""	""	""	""	""
555	449.DE			DCC	""	""	""	""	proband	SP
558	452.DG			DCC	""	""	""	""	""	""
2302	3499			DCN					proband
713	648.DS			DEC	""	""	""	""	""	""
1366	648.DS			DEC	""	""	""	""	""	""
1364	646.CG			DEC	""	""	""	""	""	""
1367	649.DS			DEC	""	""	""	""	""	""
1365	647.DM			DEC	""	""	""	""	proband	SP?
716	651.CL			DEC	""	""	""	""	""	""
712	647.DM			DEC	""	""	""	""	proband	SP?
714	649.DS			DEC	""	""	""	""	""	""
915	845			DEC	""	""	""	""	""	""
711	646.CG			DEC	""	""	""	""	""	""
2734	3392			DEE	na				father
2733	3391			DEE	na				mother
2732	3390			DEE	no				proband
3099	3390B			DEE	no				proband
1172	2107			DEF	""	""	""	""	""	""
1171	2106			DEF	yes	p.G325R	""	""	proband	""
1170	2105			DEF	yes	p.G325R	""	""	""	""
1169	2104			DEF	yes	p.G325R	""	""	""	""
2621	3282			DEG	segregation analysis not available				brother
2622	3283			DEG	segregation analysis not available				father
2623	3284			DEG	segregation analysis not available				mother
2620	3281			DEG	no		n.a.	n.a.	proband
738	673.AF			DEL	m-yes	""	""	""	""	""
442	281.DA			DEL	m-yes	""	""	""	proband	X-7
740	675.AD			DEL	m-no	""	""	""	""	""
739	674.DA			DEL	m-yes	""	""	""	""	""
3044	3713			DEO	na				sister
3043	3712			DEO	no				proband
2144	2972			DEP	no		no		proband
2337	3024 B			DER	na				proband
2203	3025			DER	segregation analysis not available				son
2202	3024			DER	no			n.a.	proband
2061	2838			DES	no	n.a.		n.a.	mother
2060	2837			DES	no	n.a.		n.a.	proband
2062	2839			DES	no	n.a.		n.a.	brother
489	541.DD			DET	""	""	""	""	""	""
490	542.DG			DET	""	""	""	""	proband	AR-2
3031	3702			DEV	no				proband
3032	3703			DEV	na				mother
2532	3207			DFA	analysis not available				proband
2585	3248			DFL	yes	c.1684-1718+1del35			cousin
2586	3249			DFL	yes	c.1684-1718+1del35			cousin
2587	3250			DFL	yes	c.1684-1718+1del35			cousin
2013	2795			DFL
2584	3247			DFL	yes	c.1684-1718+1del35			cousin
1492	2329			DFL					father
2014	2796			DFL
2015	2797			DFL
1493	2330			DFL	yes	c.1684-1718+1del35			proband
1494	2331			DFL	yes	c.1684-1718+1del35			sister
2012	2794			DFL	yes	c.1684-1718+1del35			mother
1495	2332			DFL					mother
2839	3472			DFL	yes	c. 1684-1718+1 del35			villi
1704	2520			DFN
1703	2519			DFN
1702	2518			DFN					proband
793	728			DFS	m-no	no	""	""	proband	X-5
794	729			DFS	""	""	""	""	brother	""
2058	2835			DFS	segregation analysis not available				maternal cousin
2064	2841			DFS	segregation analysis not available				maternal cousin
2067	2844			DFS	segregation analysis not available				brother
2066	2843			DFS	segregation analysis not available				maternal aunt
2059	2836			DFS	segregation analysis not available				maternal cousin
795	730			DFS	""	""	""	""	mother	""
2057	728			DFS	no	no	""	""	proband	X-5
2063	2840			DFS	segregation analysis not available				maternal cousin
2065	2842			DFS	segregation analysis not available				maternal cousin
308	057.DP			DGI	m-yes	""	""	""	proband	X-2
309	058.DA			DGI	m-yes	""	""	""	""	""
1451	057.DP			DGI	m-yes	""	""	""	proband	X-2
2122	2950			DGL	segregation analysis not available				mother
2121	2949			DGL	no		n.a.	n.a.	proband
355	040.DM			DGR	m-yes	""	""	""	proband	X-4
1484	040.DM			DGR	m-yes	""	""	""	proband	X-4
360	163.DA			DGR	m-yes	""	""	""	""	""
356	41.LA			DGR	m-no	""	""	""	""	""
358	164.IM			DGR	m-yes	""	""	""	""	""
359	162.DN			DGR	m-yes	""	""	""	""	""
499	133			DGR	m-?	""	""	""	""	""
357	161.FS			DGR	m-no	""	""	""	""	""
752	687.DP			DGU	m-no	""	""	""	""	""
753	688.CE			DGU	m-no	""	""	""	""	""
525	411.DA			DGU	m-yes	""	""	""	""	""
524	410.GM			DGU	m-yes	""	""	""	proband	X-2
2290	3092			DIA	segregation analysis not available
2289	3091			DIA	segregation analysis not available
2291	3093			DIA	segregation analysis not available
1147	2082			DIA	""	""	""	""	""	""
1140	2075			DIA	""	""	""	""	nephew	""
1141	2076			DIA	no	‘’’’’	no	""	brother	""
2296	2078b			DIA	segregation analysis not available				""	""
1142	2077			DIA	""	""	""	""	""	""
1143	2078			DIA	""	""	""	""	""	""
1144	2079			DIA	""	""	""	""	""	""
1145	2080			DIA	""	""	""	""	""	""
1146	2081			DIA	no	no	""	""	proband	""
2288	2075 b			DIA	segregation analysis not available				""	""
1148	2083			DIA	""	""	""	""	""	""
2285	2080 b			DIA	segregation analysis not available				""	""
2286	2081 b			DIA	no		n.a.	n.a.	proband	""
2292	3094			DIA	segregation analysis not available
2283	2076 b			DIA	segregation analysis not available				""	""
2282	2083 b			DIA	segregation analysis not available	n.a.			paternal grandmother	""
2284	2079 b			DIA	segregation analysis not available				""	""
2287	2082 b			DIA	segregation analysis not available				""	""
1107	2042			DIB	""	""	""	""	""	""
2259	2042 b			DIB	analysis not available				proband	""
1106	2041			DIB	""	""	""	""	""	""
1104	2039			DIB	""	""	""	""	""	""
2260	2043 b			DIB	no	n.a.	VUS c.2996G>A, p.G999E	n.a.	proband	""
1108	2043			DIB	""	no	""	""	proband	""
2099	2928			DIF	no	n.a.		n.a.	proband
2100	2929			DIF	segregation analysis not available				mother
1318	2281			DIG	""	""	linkage	linkage	nephew	""
1319	2282			DIG	""	""	""	""	nephew	""
1309	2272			DIG	""	""	""	""	nephew	""
76	2166			DIG	m-no	no	no	linkage	proband	""
1243	2263			DIG	""	""	linkage	linkage	brother	""
1244	2264			DIG	""	""	""	""	sister	""
1245	2265			DIG	""	""	linkage	linkage	son	""
1320	2283			DIG	""	""	linkage	linkage	nephew	""
1308	2271			DIG	""	""	""	""	nephew	""
1239	2259			DIG	""	""	""	""	brother	""
1312	2275			DIG	""	""	""	""	nephew	""
1310	2273			DIG	""	""	linkage	linkage	sister	""
1317	2280			DIG	""	""	linkage	linkage	mother	""
1246	2266			DIG	""	""	linkage	linkage	sister in law	""
1316	2279			DIG	""	""	linkage	linkage	nephew	""
1315	2278			DIG	""	""	""	""	nephew	""
1314	2277			DIG	""	""	""	""	sister in law	""
1313	2276			DIG	""	""	linkage	linkage	nephew	""
1304	2267			DIG	""	""	""	""	son	""
1305	2268			DIG	""	""	""	""	nephew	""
1306	2269			DIG	""	""	linkage	linkage	brother	""
1307	2270			DIG	""	""	""	""	sister in law	""
1238	2258			DIG	""	""	linkage	linkage	nephew	""
1311	2274			DIG	""	""	linkage	linkage	brother	""
1240	2260			DIG	""	""	linkage	linkage	son	""
1241	2261			DIG	""	""	linkage	linkage	sister in law	""
1242	2262			DIG	""	""	""	""	nephew	""
3066	3727 arrivato come DNA			DII	na				father
3041	3710			DII	no				proband
3042	3711			DII	na				mother
2138	2966			DIL	no				father	Solo autosomico
2139	2967			DIL	yes	c.4748-4752delGTC (p.1583fsX1632)			mother	Solo autosomico
2136	2964			DIL	yes	c.4748-4752delGTC (p.1583fsX1632)			proband	Solo autosomico
2137	2965			DIL	no				brother	Solo autosomico
278	369.DL			DIM	yes	insersione 4bp esone 20	""	""	proband	X-2
511	362.DA			DIM	no		""	""	sister	""
277	366.D			DIM	no		""	""	father	""
2188	3013			DIM	yes	ins 1419_1420GGGG			daughter
279	370.DM			DIM	yes	insersione 4bp esone 20	""	""	mother	""
2640	3301			DIP	segregation analysis not available				father	CONS.3219
2639	3300			DIP	no		n.a.	n.a.	proband	CONS.3219
2642	3303			DIP	segregation analysis not available				mother	CONS.3219
2641	3302			DIP	segregation analysis not available				brother	CONS.3219
2917	3300b			DIP	no				proband	CONS.3219
1196	2131			DIR	""	no	""	""	proband	""
274	367.DR			DLG	""	""	""	""	proband	X-2
1373	367.DR			DLG	""	""	""	""	proband	X-2
272	364.DL			DLG	""	""	""	""	""	""
276	363.DA			DLG	""	""	""	""	""	""
275	368.DV			DLG	""	""	""	""	""	""
273	365.MR			DLG	""	""	""	""	""	""
2670	3330			DLL	no		fare	fare	proband
2671	3331			DLL	na				father
2672	3332			DLL	na				mother
731	666.DL			DLN	""	""	""	""	proband	X-3?
730	665.CG			DLN	""	""	""	""	""	""
112	2202			DLS	m-no	no	""	""	proband	""
41	134.DM			DLU	no	negativo	""	""	daughter	""
36	102.CC			DLU	yes	p.1046G>C (p.G282R)	""	""	proband	""
1811	2619			DLU
38	104.CG			DLU	""	""	""	""	""	""
39	105.CK			DLU	no	negativo	""	""	daughter	""
40	106.CD			DLU	no	negativo	""	""	son	""
1913	2709			DLU					villi fetus 3
1912	2708			DLU					villi fetus 2
1911	2707			DLU					villi fetus 1
37	103.DA			DLU	yes	p.1046G>C (p.G282R)	""	""	son	X-3
1810	103 B			DLU	yes	p.1046G>C (p.G282R)			son
2487	2643 B II			DMG	no	no	no		proband
1838	2643			DMG	no	no	no		proband
1839	2644			DMG					father
1840	2645			DMG					mother
1980	2645 B			DMG					mother
1979	2643 B			DMG	no	no	no		proband
1264	2870			DMN	segregation analysis not available				wife	AD
1263	2869			DMN	segregation analysis not available				son	AD
1262	2868			DMN	segregation analysis not available				son	AD
2085	2914			DMN	segregation analysis not available				paternal grandfather
2086	2915			DMN	segregation analysis not available				paternal grandmother
1261	2867			DMN	no	n.a.		n.a.	proband	AD
198	261.DG	F		DNI	m-yes	""	""	""	proband	X-4
2893	3595			DNL	no				proband
2894	3596			DNL	na				father
2895	3597			DNL	na				mother
1527	2363			DNQ					sister
1529	2365			DNQ					father
1528	2364			DNQ					mother
1526	2362			DNQ	no	no			proband
652	587.PA			DNT	""	""	""	""	""	""
644	579.DM			DNT	""	""	""	""	proband	X-6
643	578.DM			DNT	""	""	""	""	""	""
2110	2938			DOG	no			n.a.	proband
2769	2938b			DOG	no				proband
68	193.DF			DON	m-yes	""	""	""	proband	NV
1374	193.DF			DON	m-yes	""	""	""	proband	NV
1473	078.DF			DPI	""	""	""	""	proband	X-5
256	079.D			DPI	""	""	""	""	""	""
255	078.DF			DPI	""	""	""	""	proband	X-5
1474	079.D			DPI	""	""	""	""	""	""
777	712.DD			DPM	""	""	""	""	proband	SP
1581	2414			DPQ					mother
1582	2415			DPQ	no	no			proband
3087	2415b			DPQ	no				proband
2167	2994			DRE	no		n.a.	n.a.	proband
2649	3310			DSA	analysis not available				husband
2650	3311			DSA	analysis not available				proband
2648	3309			DSA	analysis not available				son
2899	3311b			DSA	na				proband
2151	2978			DSF	yes	c.Q1582fsX1600	n.a.	n.a.	proband
2728	3386			DSN	yes	c.3120G>T p.G973V			proband
2876	3582			DSN	yes	c.3120G>T p.G973V			son
312	380.DV			DSR	no	no	no	no	proband	SP
310	378.DG			DSR	no	no	no	no	father	""
311	379.LG			DSR	no	no	no	no	mother	""
384	359.SI			DST	no	no	no	no	mother	""
385	360.DM			DST	no	no	no	no	sister	""
383	349.DD			DST	no	no	no	no	proband	AR ?
2847	3480			DTM	na				proband
2492	3170			DTT	no	n.a.	c.4548A>G, p.v1516V	n.a.	proband
2565	3235			DUD					proband
2566	3236			DUD					father
2567	3237			DUD					mother
2580	3236II			DUD					father
3070	3729			DUR	no				proband
55	307.DF			DVA	m-no	""	""	""	""	""
54	306.DG			DVA	m-yes	""	""	""	proband	X-3
3113	3751 A			DVI	no				proband
3114	3751 B			DVI	no				proband
574	468.DP			DVP	""	""	""	""	proband	SP?
572	466.MC			DVP	""	""	""	""	""	""
573	467.DR			DVP	""	""	""	""	""	""
1496	2296			DVT	yes	c.1138+2T>C			proband
631	566.DE			DZT	""	""	""	""	proband	X-3?
630	565.DC			DZT	""	""	""	""	""	""
2597	3260			ENE	segregation analysis not available				mother
2596	3259			ENE	segregation analysis not available				father
2595	3258			ENE	segregation analysis not available				brother
2594	3257			ENE	segregation analysis not available				brother
2593	3256			ENE	segregation analysis not available				sister
2592	3255			ENE	no	negativo	n.a.	n.a.	proband
1276	2880			ESO	segregation analysis not available				mother
1279	2883			ESO	segregation analysis not available				father
1278	2882			ESO	segregation analysis not available				brother
1277	2881			ESO	no		n.a.	n.a.	proband
1919	2714			ESP	na				proband
641	576.EA			ESP	m-no	""	""	""	""	""
640	575.ES			ESP	m-yes	""	""	""	proband	X-4
642	577.CL			ESP	m-yes	""	""	""	""	""
1931	2724			EVI					proband
1259	2865			FAB	segregation analysis not available				mother
1258	2864			FAB	no			n.a.	proband
1260	2866			FAB	segregation analysis not available				sister
3075	2864b			FAB	yes			IVS21 c.1150+1G>T	proband
2275	3087			FAG	no				mother
2272	3084			FAG	yes	del ex29-51	n.a.	n.a.	proband
2273	3085			FAG	segregation analysis not available				brother
2274	3086			FAG	segregation analysis not available				father
201	264.RR			FAN	m-yes	""	""	""	""	""
199	262.FL			FAN	m-yes	""	""	""	""	""
200	263.RN			FAN	m-yes	""	""	""	""	""
203	266.RG	M		FAN	m-yes	""	""	""	proband	X-16 ?
204	267.ON			FAN	m-yes	""	""	""	""	""
202	265.RR			FAN	m-no	""	""	""	""	""
2934	3626			FAT	no				proband
3016	3626 b			FAT	no				proband
2345	3531			FAV	na				proband
2346	3532			FAV	na				proband
2456	3145			FBZ	segregation analysis not available				father
2457	3146			FBZ	segregation analysis not available				mother
2455	3144			FBZ	segregation analysis not available				brother
2454	3143			FBZ	no			n.a.	proband
2829	3146b			FBZ					mother
2351	3536			FCC	yes	c.3407G>C p.G1069			mother
2735	3393			FCC	yes	c.3407G>C p.G1069			proband
2352	3537			FCC	yes	c.3407G>C p.G1069			sister
2885	3537b II			FCC	yes	c.3407G>C p.G1069			sister
2886	3589 I			FCC	yes	c.3407G>C p.G1069			nephew
2887	3589 II			FCC	yes	c.3407G>C p.G1069			nephew
2884	3537b I			FCC	yes	c.3407G>C p.G1069			sister
229	191.FS			FCN	""	""	""	""	""	""
69	190.FC			FCN	no		""	""	proband	X-6
995	930			FCZ	m-no	no	""	""	proband	X-3
996	933			FCZ	""	""	""	""	""	""
1665	2486			FED	no		no		proband
1666	2487			FED	no		no		mother
2677	3337			FEL	yes		c.3134G>T p.G1045V		proband
566	460.AI			FER	m-no	""	""	""	""	""
564	458.FF			FER	m-no	""	""	""	""	""
1198	2133			FER	m-yes	p. S943del	""	""	""	""
563	457.FR			FER	m-no	""	""	""	""	""
562	456.FM			FER	m-no	""	""	""	""	""
561	455.FG			FER	m-no	""	""	""	""	""
565	459.FA			FER	m-yes	p. S943del	""	""	proband	SP
2873	459.FA b			FER	na				proband
2874	3580 Arrivato come DNA			FER	yes	c.3025_3027delTGA p.S942del			villi
402	215.FM			FIF	""	""	""	""	""	""
403	216.FA			FIF	yes	ivs16+1G>A (1138+1G>A	""	""	proband	X-5
404	217.FL			FIF	yes	ivs16+1G>A (1138+1G>A	""	""	sister	""
2875	3581			FIF	no				proband
2915	217.FL b			FIF	yes	IVS 16+1G>A(1138+1G>A			sister	""
2916	3581b			FIF	no				proband
1998	2781			FIG	yes		c.2374G>A p.G792R		proband
1997	2780			FIG	yes		c.2374G>A p.G792R		proband
1996	2779			FIG	yes		c.2374G>A p.G792R		father
1995	2778			FIG	no		no		brother
1993	2776			FIG	yes		c.2374G>A p.G792R		brother
1994	2777 b			FIG	yes		c.2374G>A p.G792R
1269	2873			FIL	segregation analysis not available				father
1270	2874			FIL	no		n.a.	n.a.	proband
1271	2875			FIL	segregation analysis not available				brother
1268	2872			FIL	segregation analysis not available				mother
904	834			FIR					mother	""
907	837			FIR					father	""
906	836			FIR			linkage	linkage	brother	""
905	835			FIR	m-no	no	linkage	linkage	proband	AR
2695	3354			FLE	yes	c.2439G>A p.G746E			proband
2694	3353			FLE	yes	c.2439G>A p.G746E			sister
2696	3355			FLE	yes	c.2439G>A p.G746E			mother
582	476.FM			FME	""	""	""	""	""	""
583	477.MD			FME	""	""	""	""	proband	X-2
584	478.MF			FME	""	""	""	""	""	""
2324	3385 b			FNT	no	no			proband
2726	3385			FNT	no	no			proband
520	389.FF			FON	m-yes	G784V	""	""	""	""
518	387.FG			FON	m-no	""	""	""	""	""
519	388.MG			FON	m-yes	G784V	""	""	""	""
521	390.FI			FON	m-yes	G784V	""	""	proband	X-4
596	490.FT			FOR	""	""	""	""	proband	SP
595	489.FM			FOR	""	""	""	""	""	""
598	492.FF			FOR	""	""	""	""	""	""
599	493.CG			FOR	""	""	""	""	""	""
600	494.FE			FOR	""	""	""	""	""	""
597	491.CL			FOR	""	""	""	""	""	""
2146	2974			FOT	no				maternal uncle's wife	Arrivato come DNA - Ricerca mutazione gly177cys
2145	2973			FOT	yes	c.731G>T p.G177C			maternal uncle	Arrivato come DNA- Ricerca mutazione gly177cys
1025	960			FOT	yes	p.177G>C	""	""	proband	""
2148	2976			FOT	no				cousin	Arrivato come DNA - Ricerca mutazione gly177cys
2147	2975			FOT	no				cousin	Arrivato come DNA - Ricerca mutazione gly177cys
2107	2934			FPP	segregation analysis not available
2105	2935			FPP	segregation analysis not available
2104	2933			FPP	segregation analysis not available
2103	2932			FPP	no		n.a.	n.a.	proband
2106	2936			FPP	segregation analysis not available
410	373.FN			FPR	m-yes	""	""	""	proband	X-2
594	488.FT			FPZ	m-yes	""	""	""	""	""
585	479.FA			FPZ	m-yes	""	""	""	""	""
586	480.FT			FPZ	m-no	""	""	""	""	""
592	486.FN			FPZ	m-no	""	""	""	""	""
593	487.FP			FPZ	m-no	""	""	""	""	""
591	485.SR			FPZ	m-yes	""	""	""		""
588	482.CP			FPZ	m-no	""	""	""	""	""
587	481.FN			FPZ	m-yes	""	""	""	proband	X-11?
590	484.ST			FPZ	m-no	""	""	""		""
589	483.SD			FPZ	m-yes	""	""	""		""
2967	3647			FPZ	no				nephew
2968	3648			FPZ	yes	c.731G>C p.Gly177Arg			nephew
2969	3649			FPZ	yes	c.731G>C p.Gly177Arg			nephew
34	076.FN			FRA	no	no	no	no	""	""
35	077.MF			FRA	no	no	no	no	proband	SP
1797	2607			FRC					father
1796	2606			FRC					proband
1988	2606 B			FRC					proband
1798	2608			FRC					mother
136	2226			FRG	""	""	""	""	""	""
133	2223			FRG	""	""	""	""	""	""
139	2229			FRG	""	""	""	""	""	""
135	2225			FRG	""	""	""	""	""	""
137	2227			FRG	""	""	""	""	""	""
138	2228			FRG	""	""	""	""	""	""
107	2197			FRG	""	""	""	""	""	""
134	2224			FRG	""	""	""	""	""	""
108	2198			FRG	""	""	""	""	""	""
106	2196			FRG	no	no	no	no	proband	""
2037	2196 b			FRG			fare	fare	proband
2228	3048			FRI	yes		IVS35+1G>A		sister
2225	3045			FRI	yes		IVS35+1G>A		uncle
2236	3056			FRI	analysis not available				brother in law
2237	3057			FRI	analysis not available				father
2233	3053			FRI	analysis not available				aunt
2234	3054			FRI	yes		IVS35+1G>A		II grade cousin
2223	569.FJ b			FRI	yes		IVS35+1G>A		daughter
2224	570.FM b			FRI	analysis not available				proband
2231	3051			FRI	yes		IVS35+1G>A		nephew
2230	3050			FRI	yes		IVS35+1G>A		nephew
2232	3052			FRI	analysis not available				nephew
635	570.FM			FRI	yes		IVS35+1G>A		proband	X-8
634	569.FJ			FRI	yes	‘’’’	IVS35+1G>A		daughter	""
2226	3046			FRI	yes		IVS35+1G>A		cousin
2227	3047			FRI	analysis not available				cousin
2235	3055			FRI	analysis not available				wife
2229	3049			FRI	yes		IVS35+1G>A		mother
693	613.FM			FRN	""	""	""	""	""	""
694	614.FA			FRN	""	""	""	""	""	""
695	615.FA			FRN	""	""	""	""	proband	X-3?
692	612.FF			FRN	""	""	""	""	""	""
2467	3156			FRQ	no	no	no		proband
2483	2601 II			FRR	no	‘’’’’	no		proband
1793	2603			FRR					moglie
1792	2602			FRR					daughter
1791	2601			FRR	no	‘’’’	no		proband
3101	2602b			FRR	yes			c.521G>T p.Gly174Val	daughter
2714	3373			FRS	yes	c.984G>A (p.G261E)			proband	C 3773
2715	3374			FRS	no	no			father
2716	3375			FRS	yes	c.984G>A (p.G261E)			mother
775	710.MA			FRU	""	""	""	""	""	""
774	709.FF			FRU	""	""	""	""	proband	X-2
2412	2667 b			FSC	segregation analysis not available				sister
2413	2668 b			FSC	segregation analysis not available				mother
2414	3110			FSC	segregation analysis not available
1868	2668			FSC					mother
1867	2667			FSC					sister
1866	2666			FSC					proband
2411	2666 b			FSC	yes	c.698G>T, p.G233V	IVS33-128A>C + c.3594G>A p.G1198G + c.4548A>G p.V1516V + c.4932C>T p.F1644F + VUS c.4207T>C p. S1403P	IVS5+73C>T + VUS c.1721 C>T p.P574L + c.485A>G p.E162G + IVS 29+100G>A + IVS4-40T>G	proband
313	052.FM			FUL	m-yes	""	""	""	proband	SP
314	053.CL			FUL	m-no	""	""	""	""	""
1386	052.FM			FUL	m-yes	""	""	""	proband	SP
315	054.FG			FUL	m-no	""	""	""	""	""
1782	2592			FUM	yes	c.2194G>T (p.K664N) non patogenetica
1522	2358			FVR					uncle
1524	2360			FVR	no		no	no	proband
1523	2359			FVR					aunt
1525	2361			FVR					sister
18	250.ZA			FZO	""	""	""	""	""	""
16	248.FD			FZO	""	""	""	""	""	""
483	525.FS			FZO	""	""	""	""	""	""
17	249.FE			FZO	""	""	""	""	proband	X-4
2564	3234			GAB	yes	c.4262G>A p.G1170C			mother
2563	3233			GAB	yes	c.4262G>A p.G1170C			proband
240	396.GA			GAL	m-yes	""	""	""	proband	X-7
230	189.GM			GAL	m-yes	""	""	""	""	""
239	184.GS			GAL	m-yes	""	""	""	""	""
238	183.SM			GAL	m-yes	""	""	""	""	""
2730	3388			GAR	na				father
2731	3389			GAR	na				mother
2729	3387			GAR	no	no	no	no	proband
1983	2760			GAT	no		no		proband
2807	2760 III			GAT	no		no		proband
2803	2760 II			GAT	no		no		proband
2386	3563			GBL	yes	c.1175G>A p.G325R			proband
2387	3564			GBL	na				marito
244	336.GA			GBR	""	""	""	""	""	""
243	335.GE			GBR	""	""	""	""	proband	X-3
242	334.BM			GBR	""	""	""	""	""	""
241	333.GC			GBR	""	""	""	""	""	""
2496	3172			GEI	yes		c.1837G>A p.G613R		aunt
2168	2995			GEI	yes	n.a.	c.1837G>A p.G613R	n.a.	proband
2434	3128			GEI	no				sister
2432	3126			GEI	no				mother
2497	3173			GEI	no		no		cousin
2433	3127			GEI	yes		c.1837G>A p.G613R		father
389	145.GD			GEN	m-yes	""	""	""	""	""
390	146.BC			GEN	m-yes	""	""	""	""	""
387				GEN	m-yes	""	""	""	""	""
388	144.BR			GEN	m-yes	""	""	""	""	""
386	142.GM			GEN	m-yes	""	""	""	proband	X-5
2003	2786			GER	yes	c.2009G>T (p.G603C)			proband
2925	3618			GGL	yes			c.3239G>C p.G1080A	proband
571	465.GA			GHI	""	""	""	""	""	""
567	461.GM			GHI	""	""	""	""	""	""
568	462.AF			GHI	""	""	""	""	""	""
569	463.GR			GHI	""	""	""	""	proband	X-4
570	464.RA			GHI	""	""	""	""	""	""
2034	2817 EDTA			GHIS					mother
2035	2818 EDTA			GHIS	no		no		son
2468	2816 b			GHIS	no		n.a.	n.a.	proband
2033	2816 EDTA			GHIS	no	no			proband
187	322.GA			GIA	no	no	no	no	sister	""
188	323.GG			GIA	no	no	no	no	proband	X-2
939	874			GIE	m-yes	4271+1 G->C	""	""	brother	""
1065	2001			GIE	yes	4271+1 G->C	""	""	""	""
1064	2000			GIE	yes	4271+1 G->C	""	""	""	""
949	884			GIE	m-yes	4271+1 G->C	""	""	mother	""
950	885			GIE	m-yes	4271+1 G->C	""	""	maternal aunt	""
943	878			GIE			""	""	grandmother	""
948	883			GIE	""	""	""	""	maternal uncle	""
952	887			GIE	""	""	""	""	maternal aunt	""
937	872			GIE	""	""	""	""	brother	""
951	886			GIE	""	""	""	""	maternal aunt	""
947	882			GIE	""	""	""	""	maternal cousin	""
940	875			GIE	""	""	""	""	father	""
941	876			GIE	m-yes	4271+1 G->C	""	""	proband	""
946	881			GIE	""	""	""	""	maternal cousin	""
942	877			GIE	""	""	""	""	maternal cousin	""
938	873			GIE	""	""	""	""	brother	""
944	879			GIE	m-yes	4271+1 G->C	""	""	maternal cousin	""
945	880			GIE	""	""	""	""	maternal cousin	""
1233	2253			GIN	no	no	""	""	proband	""
1232	2252			GIN	""	""	""	""	mother	""
1231	2251			GIN	""	""	""	""	father	""
1807	2616			GIO	no	no			daughter
1808	2617			GIO					mother
1806	2615			GIO	no	‘’’’	no		proband
500	211.GF			GIS	""	""	""	""	proband	EX
502	242.GD			GIS	""	""	""	""	""	""
504	244.GF			GIS	""	""	""	""	""	""
505	245.SA			GIS	""	""	""	""	""	""
2634	3295			GIZ	no				proband
316	126.GP			GLA	""	""	""	""	""	""
318	128.GR			GLA	""	""	""	""	proband	SP, AR-1
317	127.GE			GLA	""	""	""	""	""	""
2553	3225			GLL	yes	c.4547delG p.V1458fsX1547	n.a.	n.a.	proband
619	513.GG			GLN	""	""	""	""	""	""
617	511.LC			GLN	""	""	""	""	""	""
618	512.GM			GLN	m-yes	""	""	""	proband	X-5?
1863	2663			GLS	no	no	no		proband
1864	2664			GLS					mother
2573	3243			GLS	‘’’’	‘’’’	‘’’’		mother
1865	2665			GLS	‘’’	‘’’’	‘’’’’		father
1368	781			GMB	""	""	""	""	proband	?
1056	992			GMB	""	""	""	""	""	""
787	722			GMB	""	""	""	""	""	""
788	723			GMB	""	""	""	""	proband	AR/X-5
2027	992 b			GMB					proband
1177	2112			GMB	""	""	""	""	""	""
1178	2113			GMB	""	""	""	""	""	""
1059	995			GMB	""	""	""	""	""	""
1053	988			GMB	""	""	""	""	""	""
1058	994			GMB	""	""	""	""	""	""
2323	723 b			GMB	no				proband	AR/X-5
1055	991			GMB	""	""	""	""	""	""
1054	990			GMB	""	""	""	""	""	""
1179	2114			GMB	""	""	""	""	""	""
1180	2115			GMB	""	""	""	""	""	""
1052	987			GMB	""	""	""	""	""	""
1051	986			GMB	""	""	""	""	""	""
1204	2139			GMB	""	""	""	""	""	""
864	781			GMB	""	""	""	""	proband	?
1192	2127			GMB	""	""	""	""	""	""
2010	2792	F	50	GMP	yes		c.2083G>A p.G695R		proband		Fallerini C, et al. Clin Genet. 2013 Sep 4. doi: 10.1111/cge.12258. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/24033287
2011	2793	F	47	GMP	na		no		sister
3141	2792 II			GMP	yes		c.2083G>A / p.G695R
473	551.GW			GMR	""	""	""	""	""	""
468	546.RA			GMR	""	""	""	""	proband	X-4
470	548.BA			GMR	""	""	""	""	""	""
472	550.SN			GMR	""	""	""	""	""	""
471	549.GA			GMR	""	""	""	""	""	""
469	547.RO			GMR	""	""	""	""	""	""
474	552.SD			GMR	""	""	""	""	""	""
1815	2623			GNN					mother
1814	2622			GNN					father
1813	2621			GNN					proband
815	750			GNV	m-no	no	""	""	proband	X-2
814	749			GNV	""	""	""	""	""	""
3019	3691			GOB	yes	c. 862G>T p.Gly621Val			proband
3020	3692			GOB	no				son
705	634.DT			GOR	yes	""	""	""IVS43+5G>A	""	""
704	633.GD			GOR	""	""	""	""	proband	AR-2?
3067	634.DT b			GOR	yes			IVS43+5G>A	mother
3076	3731 arriv come DNA			GOR	yes			c.1714G>A, p.G572R	father
3077	3732			GOR	yes			c.1714G>A, p.G572R	half brother
3078	3733 arriv come DNA			GOR	no				sister
3079	3734			GOR	yes			c.1714G>A p.Gly572Arg	sister
2914	3612			GOR	yes			c.1714G>A, p.G572R	proband
2449	3139			GOU	no	n.a.		n.a.	proband
2448	3138			GOU	segregation analysis not available				mother
2447	3137			GOU	segregation analysis not available				sister
2446	3136			GOU	segregation analysis not available				father
2828	3138b			GOU					mother
463	556.GG			GPO	""	""	""	""	""	""
467	560.GG			GPO	""	""	""	""	""	""
465	558.PS			GPO	yes	gly722ser	""	""	proband	X-10
462	555.GG			GPO	""	""	""	""	""	""
461	554.GG			GPO	""	""	""	""	""	""
460	553.GG			GPO	""	""	""	""	""	""
464	557.PR			GPO	""	""	""	""	""	""
466	559.GC			GPO	""	""	""	""	""	""
2242	3060			GRA	segregation analysis not available				mother
2240	3058			GRA	no			n.a.	proband
2241	3059			GRA	segregation analysis not available				father
2019	2801			GRD	no	no	no		proband
1071	2007			GRE	yes	""	""	ivs19-7 T>G	father	""
1068	2004			GRE	yes	""	""	ivs19-7 T>G	brother	""
1069	2005			GRE	yes	""	""	ivs19-7 T>G	brother	""
1067	2003			GRE	yes	""	""	ivs19-7 T>G	proband	""
1213	2148			GRG	""	no	""	""		""
2602	3265			GRI	yes	c.5176C>T p.F1658F + IVS10+21T			proband
2603	3266			GRI	yes	c.5176C>T p.F1658F			mother
2604	3267			GRI	no		n.a.	n.a.	sister
1742	2556			GRM					brother
1738	2552			GRM					mother
1741	2555			GRM					brother
1739	2553			GRM					father
1740	2554			GRM					proband
2419	3114			GRN	no		n.a.	n.a.	proband
366	391.GL			GST	yes	no	no	si:G1198S	proband	SP
2984	391.GL b			GST	yes			c.3592G>A,p.G1198S	proband	SP
676	642.GT			GTA	""	""	""	""	""	""
443	071.GV			GTA	""	""	""	""	proband	X-7?
679	645.SM			GTA	""	""	""	""	""	""
678	644.GA			GTA	""	""	""	""	""	""
677	643.GD			GTA	""	""	""	""	""	""
1516	2351			GTA
675	640.GI			GTA	""	""	""	""	""	""
674	641.GE			GTA	""	""	""	""	""	""
1517	2352			GTA
444	072.GR			GTA	""	""	""	""	""	""
1803	683.GLB			GTT	*m-no	""	""	""	father	""
205	424.GA			GTT	m-yes	p. G869R	""	""	proband	X-5?
760	695.GC			GTT	m-yes	p. G869R	""	""	""	""
747	682.GM			GTT	m-yes	p. G869R	""	""	""	""
748	683.GL			GTT	*m-no	""	""	""	father	""
206	425.DR			GTT	m-yes	p. G869R	""	""	mother	""
746	681.SM			GTT	m-yes	p. G869R	""	""	""	""
3008	3681			GTT	no		""	""	daughter (villi)	""
2475	3161			GUA	no		no		proband
2498	3174			GUE	no	n.a.		n.a.	proband
2867	3575			GUG	yes	c. 354G>T p.Gly51Val			proband
2868	3576			GUG	na				husband
1519	2355			GUL					mother
1750	2565			GUL
1749	2564			GUL
1748	2563			GUL
1747	2562			GUL
1615	2444			GUL
1520	2356			GUL	yes	c.647_649delC, p.P149fsX154	no		proband
1753	2561			GUL					proband
1521	2357			GUL					brother
1518	2354			GUL					father
3083	3735			GUO	no				proband
3085	3737			GUO	na				mother
3084	3736			GUO	na				father
1618	2447			GZZ	yes	no	p.Gly858Ala		proband
1617	2446			GZZ
1616	2445			GZZ
2898	3600			HAL	no				son
2850	3483			HAL	yes	c.3710G>A p.G1170S			proband
2316	3510			har	yes	c.2880G>A p.G893D			proband
2317	3511			har	yes	c.2880G>A p.G893D			mother
1835	2640			HAZ	yes	ins4924_4925C			proband
1837	2641			HAZ	yes	ins4924_4925C in eterozigosi			mother
1836	2642			HAZ					father
2166	2993			HAZ	no
1976	2641B			HAZ					mother
1975	2640B			HAZ					proband
1514	2349			HRR	no	no	no		proband
2601	3264			IAS	segregation analysis not available				father
2600	3263			IAS	segregation analysis not available				mother
2599	3262			IAS	no		n.a.	n.a.	proband
2307	3262 B			IAS	no				proband
2093	2922			ICV	segregation analysis not available
2095	2924			ICV	segregation analysis not available
2094	2399			ICV	segregation analysis not available
2087	2916			ICV	no		n.a.	n.a.	proband
2091	2920			ICV	segregation analysis not available
2088	2917			ICV	segregation analysis not available
2089	2918			ICV	segregation analysis not available
2090	2919			ICV	segregation analysis not available
2096	2925			ICV	segregation analysis not available
2092	2921			ICV	segregation analysis not available
2075	2852			IER	yes	c.2073G>A, p.G624D			proband
1248	2854			IER	yes	c.2073G>A (p.Gly624Asp			mother
1250	2856			IER	no				sister
1249	2855			IER	yes	c.2073G>A (p.Gly624Asp			sister
1247	2853			IER	no				father
1237	2257			IMP	no	no	""	""	proband	""
1236	2256			IMP	""	""	""	""	sister	""
1235	2255			IMP	""	""	""	""	mother	""
1234	2254			IMP	""	""	""	""	father	""
1376	289.IG			IND	""	""	""	""	""	""
1375	288.IM			IND	""	""	""	""	proband	NV
26	288.IM			IND	""	""	""	""	proband	NV
27	289.IG			IND	""	""	""	""	""	""
2846	3479			ITA	na				proband
2628	3289			IUL	no		n.a.	n.a.	proband	CONS 3187 Uliana
2629	3290			IUL	segregation analysis not available				brother	CONS 3187 Uliana
2630	3291			IUL	segregation analysis not available				father	CONS 3187 Uliana
2631	3292			IUL	segregation analysis not available				mother	CONS 3187 Uliana
2878	3289b			IUL	no				proband
118	2208			IZZ	M-yes MYH9	no	""	""	father	""
117	2207			IZZ	M-yes MYH9	no	""	""	proband	""
184	156.JA			JAG	m-no	""	""	""		""
183	155.WR			JAG	m-yes	del ex2-ex36	""	""		""
182	154.JA			JAG	m-no	""	""	""		""
185	157.JH			JAG	m-yes	del ex2-ex36	""	""	proband	SP
1481	157.JH			JAG	m-yes	del ex2-ex36	""	""	proband	SP
2918	157.JH b			JAG	yes	del ex2-ex36			proband	SP
2919	3613			JAG	yes	del ex2-ex36
2920	3614			JAG	yes	del ex2-ex36
1677	2498			KAS
1678	2499			KAS
1535	2371			KAS	no	no	no		proband
1536	2372			KAS					mother
2007	2499 B			KAS
2778	3433			KHY	na				mother
2777	3432			KHY	na				father
2779	3434			KHY	na				sister
2776	3431			KHY	no				proband
581	475.KA			KOL	""	""	""	""	proband	EX-X-3
580	474.CS			KOL	""	""	""	""	""	""
2184	3010			LAA	segregation analysis not available				father
2185	3011			LAA	segregation analysis not available				mother
2187	3012			LAA	no			n.a.	proband
2892	3594			LAB	no				mother
2891	3593			LAB	yes		c.2897C>T p.A966V ; c.232C>A p.P78T		proband
2990	3668			LAB	no				father
3171	190/2013	F	41	LAC	no				sister
2924	3617			LAC	yes	c.1176G>A, p.G325R			proband
3172	191/2013	F	78	LAC	yes	c.1776G>A p.G325R			mother
171	316.MI			LAG	""	""	""	""	""	""
173	318.LR			LAG	""	""	""	""	""	""
170	315.LA			LAG	""	""	""	""	""	""
172	317.LM	F		LAG	no	no	no	no	proband	AR? (gemelli)
2554	3226			LAN	no		n.a.	n.a.	proband
2556	3228			LAN	segregation analysis not available				proband
2555	3227			LAN	segregation analysis not available				father
1176	2111			LAU	yes	p.Gly509Asp	""	""	proband	""
982	917			LAV	""	""	""	""	""	""
798	733			LAV	m-yes	G719V	""	""	proband	X-3
797	732			LAV	""	""	""	""	father	""
796	731			LAV	yes	G719V	""	""	mother	""
981	916			LAV	""	""	""	""	""	""
979	914			LAV	no	no	""	""	""	""
980	915			LAV	""	""	""	""	""	""
2690	914B			LAV	na				""	""
258	050.LR			LAZ	""	""	""	""	proband	X-4
1472	051.CA			LAZ	""	""	""	""	""	""
1470	049.LG			LAZ	""	""	""	""	""	""
1471	050.LR			LAZ	""	""	""	""	proband	X-4
257	049.LG			LAZ	""	""	""	""	""	""
259	051.CA			LAZ	""	""	""	""	""	""
1942	050B			LAZ		""	""	""	proband
792	727			LBU	m-no	no	no	no	proband	AD
1353	2317			LCC					grandmother
1351	2315			LCC					father
1352	2316			LCC					brother
1355	2319			LCC					mother
1354	2318			LCC	no	no			proband
2820	3461			LDI	na				mother
2819	3460			LDI	na				father
2818	3459			LDI	no				proband
319	067.LA			LEA	""	""	""	""	proband	X-4
321	069.LD			LEA	""	""	""	""	""	""
320	068.LF			LEA	""	""	""	""	""	""
245	185.LB			LED	""	""	""	""	proband	X-2
246	186.SA			LED	""	""	""	""	""	""
2912	3611	M	5	LEO	na				son
2911	3610	F	33	LEO	yes		c.1795G>A p.Gly599Arg		proband	AD	Fallerini C, et al. Clin Genet. 2013 Sep 4. doi: 10.1111/cge.12258. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/24033287
2038	2943			LGB	no	no			proband
963	898			LGR	m-no	no	""	""	proband	""
964	899			LGR	""	""	""	""	father	""
965	900			LGR	""	""	""	""	paternal grandfather	""
966	901			LGR	""	""	""	""	maternal grandfather	X/AD
967	902			LGR	""	""	""	""	paternal grandmother	""
969	904			LGR	""	""	""	""	mother	""
968	903			LGR	""	""	""	""	maternal grandmother	""
174	313.LF			LIS	""	""	""	""	""	""
175	314.LE	M		LIS	""	""	""	""	proband	X-3
1938	2731			LIU					father
2258	2730 b			LIU	no	no	no		proband
1937	2730			LIU	no	no	no		proband
1939	2732			LIU					mother
3053	3719	M	16	LIV	yes		c.4749_4751delGTC p.Ser1584delInsHis		son
3052	3718	M	48	LIV	yes		c.4749_4751delGTC p.Ser1584delInsHis		proband	AD	Fallerini C, et al. Clin Genet. 2013 Sep 4. doi: 10.1111/cge.12258. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/24033287
3054	3720	F	45	LIV	no				wife
2470	2632C			LNB	no	no	no	no	proband
1827	2632			LNB	no	no	no	no	proband
1977	2632B			LNB	no	no	no	no	proband
1830	2635			LNB					father
1978	2634 B			LNB					mother
1828	2633			LNB					sister
1829	2634			LNB					mother
3072	3730			LNB	na				mother
3074	2635b			LNB	na				father
3073	2633b			LNB	na				sister
3071	2632d			LNB	yes			c.2488+2delGGT p.Gly830fs*2	proband
104	2194			LNC	""	""	""	""	proband	""
105	2195			LNC	""	""	""	""	brother	""
103	2193			LNC	no	no	""	""	mother	""
1275	2879			LNG	segregation analysis not available				sister
1274	2878			LNG	segregation analysis not available				mother
1272	2876			LNG	no		n.a.	n.a.	proband
1273	2877			LNG	segregation analysis not available				father
2460	3149			LNN	segregation analysis not available				mother
2459	3148			LNN	segregation analysis not available				father
2458	3147			LNN	no			n.a.	proband
749	684.LL			LNR	""	""	""	""	proband	X-4
750	685.LS			LNR	""	""	""	""	""	""
751	686.FP			LNR	""	""	""	""	""	""
900	830			LNZ	m-no	no	""	""	father	""
901	831			LNZ	m-no	no	""	""	sister	""
898	828			LNZ	m-yes	1573insC	""	""	mother	""
899	829			LNZ	m-no	no	""	""	brother	""
902	832			LNZ	m-yes	1573insC	""	""	proband	X
897	827			LNZ	m-no	no	""	""	moglie	""
903	833			LNZ	m-yes	1573insC	""	""	daughter	""
1267	2023 B			LOM	no		n.a.	n.a.	mother
1905	2596 B/ arrivato come DNA			LOM	no	no			proband
2741	2023c			LOM	no				mother
1088	2023			LOM	no	no	""	""	proband	""
1786	2596			LOM	no	no
6	196.LA			LON	""	""	""	""	""	""
7	197.LV			LON	""	""	""	""	""	""
9	199.LV			LON	""	""	""	""	""	""
10	200.LD			LON	""	""	""	""	""	""
5	195.LA			LON	""	""	""	""	proband	EX-AR
8	198.LG			LON	""	""	""	""	""	""
11	201.BG			LON	""	""	""	""	""	""
12	202.LM			LON	""	""	""	""	""	""
157	297.LG	F		LOR	""	""	""	""	proband	X-2
156	298.L			LOR	""	""	""	""	""	""
1098	2033			LOV	no	no	""	""	""	""
1085	2033			LOV	yes	c.2869G>C p.G975R	""	""	""	""
1086	2021			LOV	yes	c.2869G>C p.G975R	""	""	proband	""
1097	2032			LOV	yes	c.2869G>C p.G975R	""	""	""	""
1697	2513			LOV					fetus
1100	2035			LOV	yes	c.2869G>C p.G975R	""	""	""	""
2937	2020			LOV	yes	c.2869G>C p.G975R	""	""	""	""
1619	2448			LPL					proband
1872	2672			LPL
1824	2448b			LPL	no	no			proband
1825	2449b			LPL					son
1891	2691			LPL					father
1892	2692			LPL					mother
1873	2673			LPL
1826	2631			LPL	no	no			marito
1620	2449			LPL	no	no
3055	3721			LPO	no				proband
1139	2074			LPV	yes	no	c.1433G>A c.1986A>G	""	proband	""
1137	2072			LPV	yes	no	c.1433G>A	""	mother	""
1138	2073			LPV	yes	no	c.1433G>A	""	grandfather	""
2222	3044			LQU	segregation analysis not available				father
2221	3043			LQU	segregation analysis not available				mother
2219	3041			LQU	no	n.a.	VUS, c. 3011 T>C, p.L1004P + c.3684 G>A, p.K1228K + c.4080 A>G, p.P1360P + VUS c.4207 C>T, p.P1403S + c.4548 A>G p.V1516V + c.4932 C>T, p.F1644F.	n.a.
2220	3042			LQU	segregation analysis not available				brother
3109	3041 II			LQU		‘’’’	no	IVS22-5T>A+c.1937G>T, p.G646V
2160	2987			LRC					cousin	arrivato come DNA
2165	2992			LRC	yes	‘’’’’	c.1579G>T p.G527C		proband	arrivato come DNA
2161	2988			LRC					maternal aunt's husband	arrivato come DNA
2162	2989			LRC					father	arrivato come DNA
2164	2991			LRC	yes	‘’’’	c.1579G>T p.G527C		mother	arrivato come DNA
2154	2981			LRC	yes	‘’’’’	c.1579G>T p.G527C		maternal uncle	arrivato come DNA
2153	2980			LRC	yes	‘’’’’	c.1579G>T p.G527C		maternal grandfather	arrivato come DNA
2152	2979			LRC	yes	‘’’’’’	c.1579G>T p.G527C		cousin	arrivato come DNA
2163	2990			LRC	yes	‘’’’’	c.1579G>T p.G527C		sister	arrivato come DNA
2158	2985			LRC					cousin	arrivato come DNA
2159	2986			LRC					maternal aunt	arrivato come DNA
2155	2982			LRC					maternal grandmother	arrivato come DNA
2157	2984			LRC	yes	‘’’’’’	c.1579G>T p.G527C		cousin	arrivato come DNA
2156	2983			LRC					maternal uncle's wife	arrivato come DNA
994	929			LRS	""	""	""	""	daughter	""
993	928			LRS	""	""	""	""	son	""
992	927			LRS	""	""	""	""	mother	""
991	926			LRS	m-no	no	""	""	proband	X ?
656	591.CP			LSC	m-no	""	""	""	""	""
1370	591.CP			LSC	m-no	""	""	""	""	""
1369	592.LM			LSC	m-yes	""	""	""	proband	X-4
657	592.LM			LSC	m-yes	""	""	""	proband	X-4
2281	3090			LSE	segregation analysis not available				wife
2280	3089			LSE	no	n.a.		n.a.	proband
2504	3180			LSR	segregation analysis not available				brother
2503	3179			LSR	segregation analysis not available				mother
2502	3178			LSR	segregation analysis not available				father
2501	3177			LSR	no				proband
744	679.TM			LTR	""	""	""	""	""	""
741	676.TD			LTR	""	""	""	""	proband	X-2
742	677.TD			LTR	""	""	""	""	""	""
743	678.LM			LTR	""	""	""	""	""	""
745	680.BA			LTR	""	""	""	""	""	""
1464	036.LG			LUC	m-yes	""	""	""	proband	X-2
322	036.LG			LUC	m-yes	""	""	""	proband	X-2
1463	036.LG			LUC	m-yes	""	""	""	proband	X-2
323	119.TT			LUC	m-yes	""	""	""	""	""
1982	2649 B			LUO	no	no			mother
1981	2646 B			LUO	yes	c.4625C>T p.Q1475X	no		proband
1843	2648			LUO	no	no			father
1844	2649			LUO					mother
1841	2646			LUO	yes	c.4625C>T p.Q1475X	no		proband
1842	2647			LUO					grandfather
2736	3394			LUP	yes	c.2037G>A p.G612D			proband
2738	3396			LUP	yes	c.2037G>A p.G612D			sister
2740	3398			LUP	yes	c.2037G>A p.G612D			nephew
2737	3395			LUP	na				sister
2739	3397			LUP	na				cognato
2644	3305			LUV	no		n.a.	n.a.	proband	CONS.3250
2646	3307			LUV	segregation analysis not available				brother	CONS: 3250
2645	3306			LUV	segregation analysis not available				father	CONS.3250
2367	3305b			LUV	no				proband	CONS.3250
2647	3308			LUV	segregation analysis not available				mother	CONS.3250
2001	2784			LUZ	no	no			sister
2000	2783			LUZ	yes	c.5231C>T (p.R1677X) in eterozigosi			mother
2002	2785			LUZ	yes	c.5231C>T (p.R1677X)			proband
759	694.LD			LZP	m-yes	""	""	""	proband	X-2
758	693.PL			LZP	m-yes	""	""	""	""	""
1118	2053			LZT	""	""	""	""	""	""
683	607.LV			LZT	""	linkage	""	""	""	""
1121	2056			LZT	""	""	""	""	""	""
680	604.LD			LZT	""	linkage	""	""	""	""
1119	2054			LZT	""	""	""	""	""	""
682	606.LF			LZT	""	linkage positiva	""	""	proband	X-2
681	605.LG			LZT	""	linkage	""	""	""	""
1120	2055			LZT	""	""	""	""	""	""
2191	3016			MAA	no				sister
2193	3018			MAA	no				maternal grandmother
2192	3017			MAA	yes		c.4749_4751delGTC + c.5044C>T p.R1682W		proband
2190	3015			MAA	yes		c. 4749_4751delGTC		father
2189	3014			MAA	yes		c.5044C>T		mother
737	672.FA			MAC	m-no	""	""	""	fam	""
776	711.FG			MAC	m-no	""	""	""		""
324	123.FG			MAC	m-yes	""	""	""		""
326	125.MP			MAC	m-yes	""	""	""	proband	X-4
325	124.MP			MAC	m-yes	""	""	""		""
3095	124.MPb			MAC	yes	c.1319 C>T Pro573X			fam	""
3096	3742			MAC	yes	c.1319 C>T Pro573X			daughter
2933	3625			MAD	yes			c.1006G>T p.Gly366Cys	proband
3126	3762			MAD	no				sister
1149	2084			MAE	m-yes	p.G1045V	""	""	proband	""
1203	2138			MAE	yes	p.G1045V	""	""	nephew	""
1758	2572			MAG
1759	2573			MAG
1756	2570			MAG
1760	2574			MAG
1755	2569			MAG
1754	2568			MAG
1757	2571			MAG
2991	3669			MAI	no				proband
2993	3671			MAI	na				brother
2992	3670			MAI	na				father
2994	3672			MAI	na				sister
2471	3157			MAL	no	n.a.		n.a.	proband
2473	3159			MAL	segregation analysis not available				mother
2474	3160			MAL	segregation analysis not available				grandmother
2472	3158			MAL	segregation analysis not available				sister
354	272.CN			MAN	""	""	""	""	""	""
353	271.MA			MAN	""	""	""	""	""	""
352	270.MA			MAN	""	""	""	""	proband	SP
1787	2597			MAO	no	no
1467	033.MM			MAR	""	""	""	""	proband	X-5
328	060.MA			MAR	""	""	""	""	""	""
327	033.MM			MAR	yes	p.Gly828Arg	""	""	proband	X-5
329	061.M			MAR	""	""	""	""	""	""
3069	061b.M			MAR	yes	c.2684 G>A p.Gly828Arg			mother	""
3033	033.MMb			MAR	yes	c.2684G>A p.Gly828Arg			proband	X-5
3064	060.MA b arrivato come DNA			MAR	yes	c.2684 G>A p.Gly828Arg			sister
3065	061.m b arrivato come DNA			MAR	yes	c.2684 G>A p.Gly828Arg			mother
3128	3764			MARA	no	IVSc.322-34A>G	IVS c.1988-21G>A		proband
1453	007.SR			MAS	""	""	""	""	""	""
1454	006.ML			MAS	""	""	""	""	""	""
446	007.SR			MAS	""	""	""	""	""	""
1455	008.ME			MAS	""	""	""	""	proband	X-5
2046	2826			MAS	segregation analysis not available				father
2045	2825			MAS	no			n.a.	proband
445	006.ML			MAS	""	""	""	""	""	""
447	008.ME			MAS	""	""	""	""	proband	X-5
2970	3650			MAT	no				proband
1896	2696			MAU	yes	c.1571-1572 delG			proband
1900	2700			MAU	yes	c.1571-1572 delG			mother
1899	2699			MAU	no	no			father
1898	2698			MAU	no	no			sister
1897	2697			MAU	yes	c.1571-1572 delG			brother
142	2232			MAZ	""	""	""	""	""	""
145	2235			MAZ	""	""	""	""	""	""
144	2234			MAZ	""	""	""	""	""	""
143	2233			MAZ	""	""	""	""	""	""
140	2230			MAZ	no	no	""	""	proband	""
141	2231			MAZ	""	""	""	""	""	""
405	218.MG			MCA	""	""	""	""	proband	X-5
1363	2327			MCC	no	no			proband
1361	2325			MCC
1362	2326			MCC
1513	2348			MCD
1507	2342			MCD	no	no			proband
1511	2346			MCD
1509	2344			MCD
1510	2345			MCD
1508	2343			MCD
1512	2347			MCD
1631	2460 arrivato come DNA			mcf	yes		c.2279_2280insG p.R761fsX786		daughter
1627	2456 arrivato come DNA			mcf	yes		c.2279_2280insG p.R761fsX786		mother
1630	2459 arrivato come DNA			mcf	yes		c.2279_2280insG p.R761fsX786		sister
1628	2457 arrivato come DNA			mcf	yes		c.2279_2280insG p.R761fsX786		proband
1629	2458 arrivato come DNA			mcf	yes		c.2279_2280insG p.R761fsX786		sister
1857	2657			MCH					father
1855	2655			MCH	no	no	no		proband
1856	2656			MCH					brother
2409	3108			MCH	segregation analysis not available				paternal cousin
2410	3109			MCH	segregation analysis not available				paternal cousin
1129	2064			MCI	no	no	no	""	proband	""
601	495.MR			MCT	m-yes	gly(GGT)316>ser(AGT)	""	""	sister	""
603	497.MG			MCT	m-yes	gly(GGT)316>ser(AGT)	""	""	brother	""
602	496.MN			MCT	m-yes	gly(GGT)316>ser(AGT)	""	""	proband	X-6
604	498.CG			MCT	yes	gly(GGT)316>ser(AGT)	""	""	cousin	""
486	535.MR			MCU	""	""	""	""	proband	X-2?
487	536.SF			MCU	""	""	""	""	""	""
616	510.MS			MDU	m-yes	""	""	""	proband	X-4
3086	3738			MEC	yes	c.2801delC p.Pro934Lysfs*62			proband
3081	3667b			MED	no				proband
2989	3667			MED	no				proband
2439	3132			MEL	no			n.a.	proband
1800	2610			MEM	no	no			proband
2018	2800			MEM	no	no	no		proband
2485	2799 b			MEM	no		n.a.	n.a.	proband
2017	2799			MEM					proband
1182	2117			MEN	""	""	""	""	""	""
1181	2116			MEN	""	""	""	""	""	""
1183	2118			MEN	""	""	""	""	""	""
1151	2086			MEN	no	no	""	""	proband	""
3108	2086 b			MEN	no				proband
3107	3749			MEN	na				daughter
2905	3606			MEO	no				father
2907	3608			MEO	yes	c.3032_3034delG, p.G944fsX995			brother
2906	3607			MEO	yes	c.3032_3034delG, p.G944fsX995			mother
2908	3609			MEO	yes	c.3032_3034delG, p.G944fsX995			brother
2904	3605			MEO	yes	c.3032_3034delG, p.G944Glufs*52			proband
2720	3379			MER	yes	c.2073G>A p. G624D			proband
699	619.MP			MET	""	""	""	""	""	""
527	413.ME			MET	""	""	""	""	""	""
526	412.PA			MET	""	""	""	""	""	""
528	414.MM			MET	""	""	""	""	proband	X-4
1530	2366			MFF	no		no		proband
1531	2367			MFF					mother
1874	2366 B			MFF	no		no		proband
1875	2367 B			MFF					mother
1876	2368 B			MFF					grandmother
1532	2368			MFF					grandmother
2528	3203			MGG	yes	c.2194G>T p.K664N			proband
2901	3601			MGI	yes	c.3721G>C, p.G1241A			proband
2997	3674			MGL	no				proband
894	823			MGN	""	""	""	""	""	""
893	822			MGN	m-no	no	""	""	proband	X
895	824			MGN	""	""	""	""	""	""
2768	3424			MGO	na				mother
2766	3422			MGO	no				proband
2767	3423			MGO	na				father
2541	3214			MHI	no		n.a.	n.a.	proband
2897	3599			MIA	na				familiare
2896	3598			MIA	no				proband
330	066.M			MIB	m-yes	""	""	""	""	""
331	038.MJ			MIB	m-yes	""	""	""	proband	X-2
332	120.M			MIB	m-no	""	""	""	""	""
1461	038.MJ			MIB	m-yes	""	""	""	proband	X-2
1460	038.MJ			MIB	m-yes	""	""	""	proband	X-2
510	350.M			MIB	na	""	""	""	""	""
850	772			MIC	""	""	""	""	mother	""
853	775			MIC	""	""	linkage	linkage	brother	""
860	859			MIC	""	""	""	""	""	""
854	776			MIC	""	""	""	""	son	""
851	773			MIC	m-no	no	linkage	linkage	proband	?
852	774			MIC	""	""	linkage	linkage	sister	""
855	777			MIC	""	""	""	""	nephew	""
856	855			MIC	""	""	""	""	""	""
858	857			MIC	""	""	""	""	""	""
857	856			MIC	""	""	""	""	""	""
859	858			MIC	""	""	""	""	""	""
880	810			MIG		linkage	""	""	mother	""
879	809			MIG	m-no	no	""	""	proband	X
2848	3481			MIH	no				proband
2849	3482			MIH	na				mother
2480	2850 II			MII	yes	c.2114 G>A (p.G638S)	n.a.	n.a.	proband	X-L
2481	2851 II			MII	yes	c.2114 G>A (p.G638S)			father	X-L
2074	2851			MII	yes	c.2114 G>A p.G638S			father	X-L
2516	3191			MII	no				villi
2073	2850			MII	yes	c.2114 G>A p.G638S	n.a.	n.a.	proband	X-L
2482	2849 II			MII	yes	c.2114 G>A (p.G638S)			sister	X-L
2072	2849			MII	yes	c.2114 G>A p.G638S			sister	X-L
828	792			MIN	""	""	""	""		""
2669	3329			MIN	na				Coniuge
829	793			MIN	""	""	""	""		""
827	791			MIN	yes	G362E	""	""		""
826	790			MIN	yes	G362E	""	""		""
825	789			MIN	yes	G362E	""	""		""
824	788			MIN	yes	G362E	""	""		""
823	787			MIN	yes	G362E	""	""		""
818	782			MIN	""	""	""	""		""
821	785			MIN	yes	G362E	""	""		""
820	784			MIN	yes	G362E	""	""		""
822	786			MIN	""	""	""	""		""
830	794			MIN	""	""	""	""		""
819	783			MIN	""	""	""	""		""
2279	784 b			MIN	yes	G362E		""		""
817	752			MIN	m-yes	G362E	""	""	proband	X-9
3068	3728			MIO	no				proband
658	593.MF			MIS	""	""	""	""	""	""
649	584.MM			MIS	""	""	""	""	proband	X-4
648	583.MP			MIS	""	""	""	""	""	""
2526	3201			MIT	analysis not available				proband
2500	3176			MLE	yes	c.3345G>A p.G1048E	n.a.	n.a.	proband
2515	2798 b			MLL	no				proband
2016	2798 arrivato come DNA			MLL	no				proband
2851	2798 C			MLL	no				proband
2722	3381			MLR	yes	c.4242insA (p.E1347EfsX1372)			sister
2723	3382			MLR	yes	c.4242insA (p.E1347EfsX1372)			mother
2721	3380			MLR	yes	c.4242insA (p.E1347EfsX1372)			proband
3030	3680 b			MLR	no				son
3006	3679			MLR	yes	c.4242insA, p.Glu1347fsX1372			daughter
3007	3680			MLR	no				son
391	404.MC			MLT	""	""	""	""	proband	X-2
392	405.PM			MLT	""	""	""	""	""	""
408	371.MM			MLU	""	""	""	""	""	""
407	220.LM			MLU	""	""	""	""	""	""
406	219.LG			MLU	""	""	""	""	""	""
409	372.MM			MLU	""	""	""	""	proband	AR-2
2392	3567			MMS	no				mother
2391	3566			MMS	no				father
2390	3565			MMS	yes			c.674A>G p.His225Arg	proband
2956	3565 ii			MMS	yes			c.674A>G p.His225Arg	proband
890	820			MNC	m-no	no	""	""	proband	X
889	819			MNC	""	""	""	""	sister	""
2840	3473			MNE	no	no	no	no	proband
1015	950			MNG	no	no	""	""	proband	AR?X
1014	949			MNG	""	""	""	""	""	""
1013	948			MNG	""	""	""	""	""	""
2724	3383			MNI	na				brother
1953	2745			MNI	no	‘’’’	no		proband
1954	2746			MNI	na				father
2418	2745 II			MNI	no	‘’’’’	no		proband
1955	2747			MNI	na				mother
2719	3378			MNI	na				paternal aunt
2493	3171			MNN	no		n.a.	n.a.	aunt
2266	3078			MNN	yes	IVS45-1G>A	n.a.	n.a.	proband
2268	3080			MNN	yes	IVS45-1G>A			father
2267	3079			MNN	segregation analysis not available				mother
220	231.NM			MNO	yes	c.2880G>T	""	""	proband	X-3
219	230.BL			MNO	""	""	""	""	""	""
222	233.MN			MNO	""	""	""	""	""	""
223	286.MG			MNO	""	""	""	""	""	""
221	232.MA			MNO	""	""	""	""	""	""
1033	968			MNT	m-yes	c.4890G>A	""	""	proband	""
2021	2803			MOH	no	no	no		proband
448	282.MD			MON	""	""	""	""	""	""
449	283.MP			MON	""	""	""	""	proband	X-4
451	285.FA			MON	""	""	""	""	""	""
450	284.MG			MON	""	""	""	""	""	""
214	175.MM			MOR	yes	A4127-2G intr 42	""	""	proband	X-5
212	173.SM			MOR	""	""	""	""	""	""
213	174.MM			MOR	""	""	""	""	""	""
1303	2904			MORI	no				father
1301	2903			MORI	yes		c.2796G>A p.Gly999Glu		proband
2076	2905			MORI	yes		c.2796G>A p.Gly999Glu		mother
2077	2906			MORI	yes		c.2796G>A p.Gly999Glu		brother
3089	2905b			MORI	yes		c.2796G>A p.Gly999Glu		mother
3127	3763			MORI	yes		c.2796G>A p.Gly999Glu		brother
3088	2904b			MORI	no				father
613	507.PF			MPD	""	""	""	""	""	""
614	508.MG			MPD	""	""	""	""	proband	SP
615	509.MA			MPD	""	""	""	""	""	""
769	704.PM			MPL	""	""	""	""	""	""
768	703.MM			MPL	""	""	""	""	proband	AR? X-2
2679	3339			MRA	yes	c.3290G>A p.G1030S			father
2680	3340			MRA	na				mother
2678	3338			MRA	yes	c.3290G>A p.G1030S			proband
1545	2380			MRC
1550	2385			MRC
1576	2411			MRC
1549				MRC
1577	2412			MRC
1548	2383			MRC
1547	2382			MRC
1558	2393			MRC
494	544.MI			MRC	no	no	no	""	""	""
495	545.MD			MRC	""	""	""	""	proband	AR-3 ?
1556	2391			MRC
1578	2413			MRC
1551	2386			MRC
1579	544 bis			MRC					proband
1580	545 bis			MRC					proband
1546	2381			MRC
1567	2402			MRC
1557	2392			MRC
1559	2394			MRC
1560	2395			MRC
1561	2396			MRC
1555	2390			MRC
1562	2397			MRC
1554	2389			MRC
1563	2398			MRC
1564	2399			MRC
1566	2401			MRC					V grade
1575	2410			MRC
1572	2407			MRC
1552	2387			MRC
1574	2409			MRC
1565	2400			MRC
1573	2408			MRC
1568	2403			MRC
1571	2406			MRC
1570	2405			MRC
1569	2404			MRC
1553	2388			MRC
908	838			MRG	""	""	""	""	nephew	""
909	839			MRG	m-no	no	""	""	proband	X
910	840			MRG	""	""	""	""	nephew	""
911	841			MRG	""	""	""	""	daughter	""
912	842			MRG	""	""	""	""	daughter	""
914	844			MRG	""	""	""	""	daughter	""
913	843			MRG	""	""	""	""	son-in-law	""
333	129.PG			MRI	""	""	""	""	""	""
334	130.M			MRI	""	""	""	""	""	""
335	131.TT			MRI	""	""	""	""	""	""
336	132.MM			MRI	""	""	""	""	proband	EX
2427	3122			MRM	yes		c.1579-1581delG p.G527fs652X		daughter
2428	3123			MRM	no				daughter
2109	2937			MRM	yes	n.a.	c.1579-1581delG (p.G527fs652X	n.a.	proband
2108	2937			MRM
1166	2101			MRM	""	""	""	""	""	""
1165	2100			MRM	""	""	""	""	""	""
1164	2099			MRM	""	no	""	""	proband	""
1163	2098			MRM	""	""	""	""	""	""
1162	2097			MRM	""	""	""	""	""	""
1161	2096			MRM	""	""	""	""	""	""
3014	3687			MRM	yes		c.1580-1581delG p.G527fsX652		sister
1777	2591			MRN					wife
1907	2589 B			MRN	no		no		proband
1776	2590			MRN					daughter
1774	2588			MRN					son
1775	2589			MRN	no		no		proband
115	2205			MRO	""	""	""	""	proband	""
132	2222			MRO	""	""	""	""	grandfather's brother	""
131	2221			MRO	""	""	""	""	grandfather's cousin	""
114	2204			MRO	""	""	""	""	father	""
113	2203			MRO	""	""	""	""	paternal grandfather	""
129	2219			MRO	""	""	""	""	grandmother	""
130	2220			MRO	""	""	""	""	aunt	""
116	2206			MRO	""	""	""	""	mother	""
475	530.MA			MRP	""	""	""	""	proband	SP
708	637.LF			MRT	no	no	no	no	""	""
707	636.MS			MRT	no	no	no	no	""	""
706	635.MV			MRT	yes	c.2159G>C	no	no	proband	SP
1923	2717			MSL	no	‘’’’	no		proband
477	527.ME			MSS	no	no	no	no	""	""
476	526.ME			MSS	no	no	no	no	proband	SP
478	528.MS			MSS	no	no	no	no	""	""
479	529.DL			MSS	no	no	no	no	""	""
1961	2753			MSZ					sister
929	864			MTG	m-no	no	""	""	proband	""
1928	864B			MTG	m-no	no	""	""	proband	""
930	865			MTG	""	""	""	""	mother	""
659	594.QA			MTL	""	""	""	""	""	""
651	586.MV			MTL	""	""	""	""	""	""
653	588.MG			MTL	""	""	""	""	proband	AD
650	585.MF			MTL	""	""	""	""	""	""
2199	3021			MTN	segregation analysis not available				brother
2197	3019			MTN	no			n.a.	proband
2198	3020			MTN	segregation analysis not available				mother
2201	3023			MTN	segregation analysis not available				brother
2200	3022			MTN	segregation analysis not available				brother
3050	3716			MTN	no				nephew
2637	3298			MTT	no				proband	CONS.3215
2638	3299			MTT	segregation analysis not available				father	Cons.3215
2636	3297			MTT	segregation analysis not available				mother	CONS.3215
3110	3298 II			MTT					proband	CONS.3215
2902	3603			MUG	no				proband
2676	3336			MUR	na				mother
2674	3334			MUR	na				brother (twin)
2675	3335			MUR	na				father
2673	3333			MUR	na				proband
1093	2028			MUS	""	""	""	""	""	""
1092	2027			MUS	yes	p.624G>D	""	""	proband	""
1091	2026			MUS	""	""	""	""	""	""
2488	2768 II			MUT	no	no	no		proband
2008	2790			MUT					brother
2495	2768			MUT	no	no	no		proband
1984	2768			MUT	no	no	no		proband
2009	2791			MUT					mother
1584	2417			mva	yes		c.1885delC		proband
1920	2715			mva	yes		c.1885delC		father
1921	2716			mva	no		no		mother
2212	3034			MZC	segregation analysis not available				mother
2210	3032			MZC	no		n.a.	n.a.
2211	3033			MZC	segregation analysis not available				father
2749	3407			MZL	na				proband
2750	3408			MZL	na				mother
1538	2374			MZZ					father
1539	2375			MZZ					mother
1540	2376			MZZ					proband
2300	3498			NAD	yes		VUS c.228T>G p.Ile76Met		mother
2299	3497			NAD	no				father
2298	3496			NAD	na				sister
2866	3495			NAD	yes		c.1536 G>A p.Gly512Gly; VUS c.217T>G p.Ile76Met; VUS c.228T>G p.Ile76Met	VUS c.2313G>A p.Gly771Gly	proband
2312	3507			NAN	yes	c.560G>A p.G120S			brother
2313	3508			NAN	yes	c.560G>A p.G120S			mother
2314	3509			NAN	no				father
2311	3506			NAN	yes	c.560G>A p.G120S			proband
2333	3521			NAT	na				father
2335	3523			NAT	yes	c.3521G>A, p.G1107R, IVS10+21T>C			proband
2334	3522			NAT	no				mother
3003	3677 II			NAT	no				brother
3005	3678 II			NAT	no				brother
3002	3677 I			NAT	no				brother
3001	3522b			NAT	no				mother
3004	3678 I			NAT	no				brother
1377	320.NH			NCL	yes	no	no	si:3386del27+ insxx	proband	AR
508	320.NH			NCL	yes	no	no	si:3386del27+ insxx	proband	AR
686	610.NM			NCL	yes	no	no	si:3386del27	father	X-9
685	2103			NCL	yes	no	no	si:3386del27+ insxx	sister	""
687	611.PP			NCL	yes	no	no	si:insxx	mother	""
684	608.NM			NCL	yes	no	no	no	sister	""
1502	2337			NCS	no	no			brother
1503	2338			NCS					father
1504	2339			NCS					mother
1505	2340			NCS					proband
1515	2350			NCS
1506	2341			NCS					sister
522	406.NG			NER	m-yes	""	""	""	proband	X-3
523	407.PA			NER	m?	""	""	""	""	""
3135	3770			NERO	yes	del totale			proband
3136	3771			NERO	no				sister
1917	2712			NES	no		no		proband
2309	3505 Arrivato come DNA			NGR	no				proband
2389	3505b			NGR	no				proband
2974	3654			NIA	na				proband
146	2236			NOB	no	no	""	""	proband	""
147	2237			NOB	""	""	""	""	mother	""
148	2238			NOB	""	""	""	""	father	""
1160	2095			NON	""	""	""	""	""	""
1159	2094			NON	""	""	""	""	""	""
1157	2092			NON	""	""	""	""	""	""
1158	2093			NON	""	""	""	""	""	""
767	702.NG			NON	""	""	""	""	""	""
766	701.NS			NON	""	""	""	""	proband	AR-3
765	700.PA			NON	""	""	""	""	""	""
1156	2091			NON	""	""	""	""	""	""
2360	1017			non si sa
1322	2024B ?????			non si trovano tracce cartacee, né la provetta	""	""	""	""	""	""
1679	2500			NRD	no	no	no		proband
2041	2821			NRI	no	n.a.	no	n.a.	proband
1656	2353			NSS	no	no			proband
2381	3558			NTL	no				proband
2384	3561			NTL	na				sister
2382	3559			NTL	na				father
2383	3560			NTL	na				mother
891	821			NTR	m-yes	deletion	""	""	proband	X
892	825			NTR	m-yes	deletion	""	""	brother	""
1746	2560			NUC
1745	2559			NUC
1744	2558			NUC					brother
1743	2557			NUC	no	no			proband
2624	3285			OCC	no		IVS17+72 A>G, VUS c.1444C>T p.482S, VUS c.3011T>C p.L10004P, VUS c.4548A>G p.V1516V		proband	Ragusa
2626	3287			OCC	segregation analysis not available				mother	Ragusa
2625	3286			OCC	segregation analysis not available				father	Ragusa
2394	3569			ORA	na				father
2395	3570			ORA	na				mother
2393	3568	M	14	ORA	yes		c.1109G>A p.Gly370Glu		proband	AD	Fallerini C, et al. Clin Genet. 2013 Sep 4. doi: 10.1111/cge.12258. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/24033287
3175	252/2013	M	22	ORA	no				mother's cousin
3177	255/2013	M	54	ORA	yes		c.1109G>A p.Gly370Gln		mother's cousin
3207	1053/2013	M	42	ORA	yes		c.1109G>A p.Gly370Gln		mother's cousin
3206	846/2013	M	38	ORA	yes		c.1109G>A p.Gly370Gln		mother's cousin
3038	3708	M	8	ORA	yes		c.1109G>A, p.Gly370Glu		brother
3037	3707	F	11	ORA	yes		c.1109G>A, p.Gly370Glu		sister
3178	256/2013	M	51	ORA	yes		c.1109G>A p.Gly370Gln		mother's cousin
3035	3705	F	9	ORA	no				cousin
3034	3704	F	39	ORA	yes		c.1109G>A, p.Gly370Glu		maternal aunt
3179	257/2013	M	33	ORA	yes		c.1109G>A p.Gly370Gln		mother's cousin
3176	254/2013	F	62	ORA	yes		c.1109G>A p.Gly370Gln		mother's aunt
3036	3706	F	7	ORA	yes		c.1109G>A, p.Gly370Glu		cousin
126	2216			ORD	""	""	""	""	proband	""
124	2415			ORD	""	""	""	""	mother	""
128	2218			ORD	""	""	""	""	sister	""
127	2217			ORD	""	""	""	""	sister	""
125	2215			ORD	""	""	""	""	father	""
1457	032.OM			ORI	""	""	""	""	proband	X-2?
337	032.OM			ORI	""	""	""	""	proband	X-2?
338	056.ND			ORI	""	""	""	""	""	""
1478	176.SM			ORL	m-yes	Si: c.3142delA	""	""	""	""
24	015.DS			ORL	m-no	""	""	""	nephew	""
23	014.ON			ORL	m-yes	c.3142delA	""	""	sister	""
22	176.SM			ORL	m-yes	c.3142delA	""	""	nephew	""
1480	176.SM			ORL	m-yes	Si: c.3142delA	""	""	""	""
1448	014.ON			ORL	m-yes	Si: c.3142delA	""	""	""	""
1449	016.OU			ORL	m-yes	Si: c.3142delA	""	""	proband	X-9
25	016.OU			ORL	m-yes	c.3142delA	""	""	proband	X-9
459	419.DG			ORL	m-yes	Si: c.3142delA	""	""	nephew	""
111	2201			ORL	m-yes	Si: c.3142delA	""	""	nephew	""
2451	3141			ORS	segregation analysis not available				father
2452	3142			ORS	segregation analysis not available				mother
2562	3140 b			ORS	no				proband
2450	3140			ORS	no				proband
2218	3040			OSB	analysis not available				paternal grandmother
2217	3039			OSB	analysis not available				father
2216	3038			OSB	yes	c.2077G>A p.Gly693Arg		VUS c.485A>G p. E162G + .IVS29+100G>A
2943	3628			PAC	no				proband
3131	3766			PACE	yes	c.1835G>A p.Gly612Asp			proband
339	039.PN			PAL	*m-yes	""	""	""	proband	X-2
340	070.SM			PAL	m-no	""	""	""	""	""
1469	039.PN			PAL	*m-yes	""	""	""	proband	X-2
1468	039.PN			PAL	*m-yes	""	""	""	proband	X-2
13	158.MS			PAM	""	""	""	""	proband	X-4??
15	160.PL			PAM	""	""	""	""	""	""
14	159.ME			PAM	""	""	""	""	""	""
1084	2019			PAN	""	no	""	""	""	""
2985	3663			PAQ	na				proband
928	863			PAR	yes	no	no	si:M1L	mother	""
927	862			PAR	yes	no	no	si:R1037X	father	X? 2#
926	861			PAR	yes	no	no	si:R1037X + M1L	proband	AR
393	152.VL			PAS	""	""	""	""	""	""
394	151.PM			PAS	""	""	""	""	proband	X-2
1885	2685			PAT	no		no		proband
1886	2686			PAT					grandfather
1763	2576			PAV LPV
1762	2575			PAV LPV	yes	no	c.1986A>G		father
1764	2577			PAV LPV
2250	3068			PBS	no		n.a.	n.a.	proband
2251	3069			PBS	segregation analysis not available				mother
2322	3516			PCC	na				mother
2321	3515			PCC	no				proband
2770	3425			PCO					proband
2978	3657b			PCR	no				paternal uncle
3129	3765			PCR	yes	c.2T:A p.Met1Lys			uncle
2771	3426			PCR	yes	c. 2T>A p.Met1Lys			proband
3039	3709 I			PCR	no				cousin
2982	3661			PCR	yes	c.2T:A p.Met1Lys			son
2921	3426b			PCR	yes	c. 2T>A p.Met1Lys			proband
2977	3657			PCR	no				paternal uncle
2965	3645			PCR	yes	c.2T:A, p.Met1Lys			grandmother
2964	3644b			PCR	no				aunt
2963	3644			PCR	no				aunt
2962	3643b			PCR	yes	c.2T:A, p.Met1Lys			father
2961	3643			PCR	yes	c.2T:A, p.Met1Lys			father
3040	3709 II			PCR	no				cousin
3120	3756			PDD	yes	c.136¬_137insG p.Glu46Glyfs*34			proband
3121	3757			PDD	na				father
3122	3758			PDD	na				mother
93	2183			PDO	""	""	""	""	father	""
92	2182			PDO	""	""	""	""	mother	""
110	2200			PDO	""	""	""	""	sister	""
109	2199			PDO	""	""	""	""	cousin	""
91	2181			PDO	m-no	no	""	""	proband	AD-XL
2987	3665			PDR	yes	c.2184delG p.Gly728Glyfs*8			proband
532	418.PR			PED	""	""	""	""	""	""
531	417.PL			PED	""	""	""	""	proband	NV
610	504.DP			PEL	""	""	""	""	mother	""
611	505.FO			PEL	""	""	""	""	""	""
612	506.ZG			PEL	""	""	""	""	""	""
609	503.PG			PEL	""	""	""	""	sister	""
379	338.PN			PEL	""	""	""	""	father	""
378	337.PJ			PEL	""	""	""	""	proband	X-2?
2986	3664			PEN	na				proband
46	111.PW			PER	""	""	""	""	proband	AD-3
47	112.PM			PER	""	""	""	""	""	""
45	110.PE			PER	""	""	""	""	""	""
43	108.PM			PER	""	""	""	""	""	""
42	107.PA			PER	""	""	""	""	""	""
44	109.GR			PER	""	""	""	""	""	""
1135	2070			PET	no				mother	""
1134	2069			PET					brother	""
1133	2068			PET					father	""
1132	2067			PET	yes	IVS c.2042-1G>A			proband	""
3130	2067b			PET	yes	IVS c.2042-1G>A			proband	""
2707	3366			PGN	na				sister
2708	3367			PGN	na				sister
2706	3365			PGN	na				proband
1707	2521			PHI					proband
862	779			PIC	""	""	""	""	proband	?
2973	3653			PIE	no				proband
1072	2008			PIG	""	no	da fare	da fare	proband	""
2692	3352			PIN	na	ATS+Leiomiomatosi ricerca delezione COL4A5-A6			proband
2693	3351			PIN	na	ATS+Leiomiomatosi ricerca delezione COL4A5-A6			proband
231	192.PP			PIR	""	""	""	""	proband	SP
835	757			PIS	""	""	""	""	father	""
833	755			PIS	""	""	""	""	brother	""
832	754			PIS	""	""	""	""	brother	""
831	753			PIS	yes	1625 G->A	""	""	proband	SP
834	756			PIS	""	""	""	""	mother	""
606	500.IG			PIT	no	no	no	no	son	""
608	502.IA			PIT	no	no	no	no	proband	AD?
607	501.IF			PIT	no	no	no	no	son	""
605	499.PC			PIT	no	no	no	no	grandmother	""
1956	2748			PIZ	no	no			proband
342	354.PG			PLC	no	no	no	no	""	""
341	353.PT			PLC	no	no	no	no	proband	SP
2651	3312			PLL	analysis not available				proband
786	721			PLN	m-no	no	no	no	proband	SP/AR
2948	3633			PLO	yes	IVS c. 25101-G>C			father
3100	3632B			PLO	yes	IVS c. 2510-1G>C			proband
2947	3632			PLO	yes	IVS c. 2510-1G>C			proband
2527	3202			PLS	no		n.a.	n.a.	proband
1846	2651			PLT	no	‘’’’	no		brother
1849	2654			PLT	yes	‘’’’	c.104A>G p.Y35C		mother
1848	2653			PLT	yes	‘’’’	c.2590G>A p.G864R		father
1847	2652			PLT	yes	‘’’’	c.104A>G p.Y35C + c.2590G>A p.G864R		sister
1845	2650			PLT	yes	‘’’’’	c.104A>G p.Y35C + c.2590G>A p.G864R		proband
1285	2889			PLU	segregation analysis not available				father
1284	2888			PLU	segregation analysis not available				brother
1286	2890			PLU	segregation analysis not available				mother
1283	2887			PLU	no			n.a.	proband
2808	3449			PNI	na
2809	3450			PNI	no				proband
541	435.BV			POL	no	no	no	no	""	""
554	448.PD			POL	no	no	no	no	""	""
553	447.AE			POL	no	no	no	no	""	""
552	446.PM			POL	no	no	no	no	""	""
536	430.PS			POL	no	no	no	no	""	""
551	445.PR			POL	no	no	no	no	""	""
545	439.PF			POL	no	no	no	no	""	""
549	443.PM			POL	no	no	no	no		AR-2
548	442.PM			POL	no	no	no	no	""	""
537	431.PD			POL	no	no	no	no	proband	AR
538	432.CL			POL	no	no	no	no	""	""
542	436.AN			POL	no	no	no	no	""	""
540	434.PN			POL	no	no	no	no	""	""
546	440.BS			POL	no	no	no	no	""	""
550	444.CL			POL	no	no	no	no	""	""
547	441.LE			POL	no	no	no	no	""	""
539	433.BD			POL	no	no	no	no	""	""
543	437.PM			POL	no	no	no	no	""	""
544	438.PI			POL	no	no	no	no	""	""
1125	2060			PRE	""	no	""	""	proband	""
1126	2061			PRE	""	""	""	""	""	""
1128	2063			PRE	""	""	""	""	""	""
700	620.PA			PRI	m-yes	""	""	""	""	""
701	621.PG			PRI	m-no	""	""	""	""	""
702	622.PA			PRI	m-yes	""	""	""	""	""
703	623.PM			PRI	m-yes	""	""	""	proband	X-3
1672	2493			PRL	no	no			proband
1673	2494			PRL
1674	2495			PRL
1675	2496			PRL
1676	2497			PRL
1671	2492			PRL
560	454.BV			PRM	""	""	""	""	proband	X-6
2611	3274			PRR	segregation analysis not available				maternal grandfather
2610	3273			PRR	segregation analysis not available				maternal grandmother
2609	3272			PRR	yes			c.2371C>T p.Arg791X	father
2608	3271			PRR	no				mother
2607	3270			PRR	no				sister
2606	3269			PRR	no				sister
2605	3268			PRR	yes			c.2371C>T p.Arg791X	proband
2315	3268 B			PRR	yes			c.2371C>T p.Arg791X	proband
1329	2291			PRS					nipote
1333	2295			PRS					nephew
1332	2294			PRS					sister
1331	2293			PRS	no	no	no		daughter
1327	2289			PRS					nipote
1330	2292			PRS					proband
1328	2290 ?????			PRS					daughter
1206	2141			PRT	""	""	""	""	nephew	""
1207	2142			PRT	""	no	""	""	proband	""
1205	2140			PRT	""	""	""	""	brother	""
344	065.EI			PRU	""	""	""	""	""	""
343	035.PF			PRU	yes	c.1836G>T	""	""	proband	X-2
1462	035.PF			PRU	yes	c.1836G>T	""	""	proband	X-2
2537	3212			PRV	yes	c.2339G>A p.G713S	n.a.	n.a.	proband
2040	2757 b			PSC			fare	fare	proband
1965	2757			PSC					proband
1966	2758			PSC					father
1967	2759			PSC					mother
1291	2895			PSD	segregation analysis not available				grandfather
1288	2892			PSD	segregation analysis not available				brother
1289	2893			PSD	segregation analysis not available				mother
1290	2894			PSD	segregation analysis not available				uncle
2486	2891 b			PSD	no	n.a.	VUS c.2630 G>A, p.R877Q	n.a.	proband
1287	2891			PSD	no	n.a.		n.a.	proband
1195	2130			PSL	""	""	""	""	mother	""
1194	2129			PSL	""	""	""	""	father	""
1193	2128			PSL	""	no	""	""	proband	""
1818	2625			PSQ	yes	c.1826G>T (p.G542X) in emizigosi			brother
1817	2624			PSQ	yes	c.1826G>T (p.G542X)			proband
654	589.PJ			PST	m-yes	""	""	""	proband	NV
655	590.PP			PST	m-yes	""	""	""	""	""
492	540.PA			PTR	""	""	""	""	proband	AR-3
779	714.PD			PTU	m-yes	""	""	""	proband	X-2
493	538.PC			PTZ	""	""	""	""	proband	AD-8
347	357.P			PUL	no	no	no	no	""	""
346	356.PG			PUL	no	no	no	no	""	""
345	355.PS			PUL	no	no	no	no	proband	SP
2910	355.PS b			PUL	no				proband	SP
1612	2442			PUX	yes		c.940G>T p.G314C		mother
1611	2441			PUX	yes		c.940G>T p.G314C		proband
1610	2440			PUX	yes		c.940G>T p.G314C		daughter
396	348.PE			PZA	no	no	no	no	proband	SP
395	347.CG			PZA	no	no	no	no	""	""
2754	3411			PZL	na				mother
2753	3410			PZL	na				father
2752	3409			PZL	no		IVSc.4334-18T>A		proband
2786	3439			PZN	yes	c.5222C>T p.R1674X			proband
2078	2907			PZZ	yes	n.a.	c.1884-1886delC p.P629fs652X	n.a.	proband
2079	2908			PZZ	yes		c.1884-1886delC p.P629fs652X		father
2215	3037			QUF	segregation analysis not available				son
2214	3036			QUF	no			n.a.	proband
1785	2595 arrivato come DNA			QUI	yes	no	ivs30-5A>T
1784	2594 arrivato come DNA			QUI	no	no	no
1914	2595 B			QUI	yes	no	ivs30-5A>T
970	905			RAF	m-no	no	""	""	proband	X/AD
971	906			RAF	""	""	""	""	father	""
972	907			RAF	""	""	""	""	sister	""
974	909			RAF	""	""	""	""	mother	""
973	908			RAF	""	""	""	""	sister	""
2871	3579			RAG	na				mother
2870	3578			RAG	na				father
2869	3577			RAG	no				proband
2401	3100			RAI	segregation analysis not available				sister
2400	3099			RAI	segregation analysis not available				sister
2403	3102			RAI	segregation analysis not available				mother
2402	32 01			RAI	segregation analysis not available				maternal grandfather
2297	3098			RAI	no		n.a.	n.a.	proband
2404	3103			RAI	segregation analysis not available				maternal uncle
2805	3102 II			RAI					mother
2006	2789			RAP	yes	c.1710G>A p.G503D			proband
2484	3166			RAP	no	no			mother
2505	3181			RBI	analysis not available				proband
2506	3182			RBI	analysis not available				father
2359	3181b			RBI					proband
2507	3183			RBI	analysis not available				mother
211	426.RS			RBN	""	""	""	""	""	""
209	422.RG			RBN	""	""	""	""	""	""
210	423.RA			RBN	""	""	""	""	proband	EX
208	421.RP			RBN	""	""	""	""	""	""
207	420.CP			RBN	""	""	""	""	""	""
990	925			RBT	no				proband	X
2328	922 c			RBT	na				daughter	""
988	923			RBT	na				son	""
2542	922 b			RBT	segregation analysis not available				daughter	""
987	922			RBT	na				daughter	""
989	924			RBT	na				mother	""
2004	2787			RCC	no	no			proband
2239	2787 b			RCC	no		n.a.	n.a.	proband
2005	2788			RCC					mother
997	931			RCE	no	no	no	no	mother	""
998	932			RCE	m-no	no	no	no	father	?
999	934			RCE	m-no	no	no	no	proband	ad
2265	3077			RDA	segregation analysis not available				father
2263	3075			RDA	no	n.a.	VUS c.1444C>T p. P482S, VUS c.4080A>G p.P1360P; VUS c.3979A>G p.M1327V, VUS c.4204C>T p.P1402S, c.4207T>C p.S1403P, VUS 4548A>G p.v1516V	n.a.	proband
2264	3076			RDA	segregation analysis not available				mother
3094	3623			REA	yes			c. 2638G>A p.Gly880Arg	proband
2931	3623			REA	yes			c. 2638G>A p.Gly880Arg	proband
2598	3261			RED	yes			c.7654G>A p.Y255Y	proband
1063	999			RET	""	no	""	""	proband	""
2533	3208			RGG	yes	c. 722G>C p.G174C			nephew
2398	3573			RGG	yes	c. 722G>C p.G174C			nipote
2406	3105			RGG	yes	c. 722G>C p.G174C			nephew
2397	3572			RGG	yes	c. 722G>C p.G174C			nipote
2399	3574			RGG	yes	c. 722G>C p.G174C			nipote
2405	3104			RGG	yes	c. 722G>C p.G174C			sister
2616	3279			RGG	yes	c. 722G>C p.G174C			nipote
1935	2728			RGG	yes	c. 722G>C p.G174C			proband
2396	3571			RGG	no				nipote
2783	3436			RGG	yes	c. 722G>C p.G174C			nephew
2782	3435			RGG	na
3119	3755			RGG	yes	c. 722G>C p.G174C			sister
2784	3437			RGG	yes	c. 722G>C p.G174C			nephew
2813	3454			RGH	yes		c.2796G>A, p.G999E		mother
2812	3453			RGH	no				father
2811	3452			RGH	no				brother
2810	3451			RGH	no		c.2796G>A, p.G999E		proband
2252	3070			RGR	no		n.a.	n.a.
2253	3071			RGR	segregation analysis not available				mother
2135	2963			RIC	segregation analysis not available
2134	2962			RIC	segregation analysis not available				proband
2133	2961			RIC	no	n.a.		n.a.
2132	2960			RIC	segregation analysis not available
515	383.PG			RIP	no	no	no	no	mother	""
514	382.RC			RIP	no	no	no	no	sister	""
513	381.RL			RIP	no	no	no	no	proband	AR-2?
2666	3326			RIV	no				aunt
2667	3327			RIV	yes	c.3710G>A p.G1170S	n.a.	n.a.	proband
2665	3325			RIV	no				mother
2343	3530			RIZ	no				proband
2591	3254			RIZ	yes	c.1277G>A p.G359R			daughter
2590	3253			RIZ	yes	c.1277G>A p.G359R			proband
2524	3199			RLL	segregation analysis not available				mother
2522	3197			RLL	no				proband
2523	3198			RLL	segregation analysis not available				father
2872	3197 II			RLL	no	no	no		proband
62	136.RM			RMA	m-yes	""	""	""	proband	X-4
63	137.RB			RMA	m-no	""	""	""	""	""
64	177.RD			RMA	m-yes	""	""	""	""	""
65	178.BC			RMA	m-yes	""	""	""	""	""
61	135.MG			RMA	m-yes	""	""	""	""	""
232	194.RG			RNC	""	""	""	""	proband	SP-AR
2261	3073			RNM	no			n.a.	proband
2262	3074			RNM	segregation analysis not available				mother
2039	045.PA			ROC	""	""	""	""	""	""
263	045.PA			ROC	""	""	""	""	""	""
260	042.RP+ 42B			ROC	""	""	""	""	""	""
261	043.RS			ROC	""	""	""	""	proband	AD??
262	044.RG			ROC	""	""	""	""	""	""
816	751			ROR	m-no	no	""	""	proband	?
58	301.RS			ROS	m-no	""	""	""	""	""
57	300.SM			ROS	m-yes	""	""	""	""	""
56	299.RG			ROS	m-yes	""	""	""	proband	X-2
1614	2443			ROSSELLI	no	no			proband
120	2210			ROT	""	""	""	""	sister	""
121	2211			ROT	""	""	""	""	mother	""
74	2164			ROT	M-yes; MYH9	""	""	""	proband	""
123	2213			ROT	""	""	""	""	brother	""
122	2212			ROT	""	""	""	""	father	""
2643	3304			ROV	no				proband
958	893			RPN	""	linkage	""	""	sister	""
75	2165			RPN	""	linkage	""	""	fetus	""
960	895			RPN	""	linkage	""	""	mother	""
1079	8076			RPN	""	""	""	""	fetus	""
959	894			RPN	m-no	no	""	""	proband	""
1701	2517			RPS	no	no			proband
1700	2516			RPS
1699	2515			RPS
1698	2514			RPS
1642	2467			RPT					father
1641	2466			RPT					sister
1640	2465			RPT					mother
1639	2464			RPT	yes	p.I967V			proband	AR
1043	978			RSM	yes	ivs7+1G>A	""	""	""	""
2254	976 b			RSM	yes	IVS7+1G>A	n.a.	.n.a	proband
2255	977 b			RSM	yes	IVS7+1G>A			brother	""
2256	978 b			RSM	analysis not available				brother
2257	3072			RSM	yes	IVS7+1G>A			mother
1042	977			RSM	""	""	""	""	""	""
1041	976			RSM	""	""	""	""	proband	""
1909	2705			RSP	no	no			proband
1479	089.RL			RSP	m-yes	ex4-ex13 del	""	""	proband	X-4
1908	2704			RSP	no	no			proband
285	090.SD			RSP	m-yes	""	""	""	""	""
284	089.RL			RSP	m-yes	ex4-ex13 del	""	""	proband	X-4
3000	3676 II			RTI	yes	c.1387G>C p. Gly463Arg			proband
2999	3676 I			RTI	yes	c.1387G>C p. Gly463Arg			proband
1293	2896			RTU	analysis not available				father
1294	2897			RTU	analysis not available				proband
667	602.RS			RTU	""	""	""	""	""	""
59	268.RA			RTU	""	""	""	""	proband	X-7
668	603.RD			RTU	""	""	""	""	""	""
666	601.TA			RTU	""	""	""	""	""	""
1292	602.RS.B			RTU	analysis not available				mother
2056	2734 2 estr.			RUB					proband
1941	2735			RUB					mother
1958	2750			RUB					grandmother
1940	2734			RUB					proband
1957	2749			RUB					grandfather
2119	2947			RUG	yes	del ex 1+ del exx 1 and 2 COL4A6	n.a.	n.a.	proband	probabile delezione gene COL4A5 e COL4A6
2277	2947 (II estr.)			RUG	yes	del ex 1+ del exx 1 and 2 COL4A6	n.a.	n.a.	proband	probabile delezione gene COL4A5 e COL4A6
2120	2948			RUG	yes	del ex 1+ del exx 1 and 2 COL4A6	n.a.	n.a.	sister	probabile delezione gene COL4A5 e COL4A6
2787	3440			RUG	yes	delezione esone1 COL4A5 , delezione esone 1 e 2 COL4A6			mother	probabile delezione gene COL4A5 e COL4A6
1962	2754			RUN	no	no			proband
1964	2756			RUN					mother
1963	2755			RUN					sister
2494	2754II			RUN	no	no			proband
1936	2729			RUO	no	no			proband
265	083.RM			RUS	m-no	""	""	""	""	""
266	084.FC			RUS	m-yes	""	""	""	""	""
264	082.RG			RUS	m-yes	""	""	""	proband	X-2
2699	3358			RUS	yes	c.4528_4563dup36 p.G1442_G1454dup			nephew
2890	3592			RUT	na				mother
2889	3591			RUT	na				father
2888	3590			RUT	yes	IVS36+1G>A			proband
1585	2418			RUZ	yes	del ex26			proband
1586	2419			RUZ					sister
1588	2421			RUZ					father
1587	2420			RUZ					mother
2213	3035			RVE	no		n.a.	n.a.	proband
3060	3723			RZZ	yes		.2170C>T p.Arg724*		proband
3061	3724			RZZ	no				brother
3063	3726			RZZ	no				mother
3062	3725			RZZ	yes		.2170C>T p.Arg724		father
2571	3241			SAA					father
2570	3240			SAA					mother
2569	3239			SAA					sister
2568	3238			SAA	no	no			proband
3111	3750 A			SAD	yes	c.2754_2755insCT p. Pro919Leufs*78			proband
3112	3750 B			SAD	yes	c.2754_2755insCT p. Pro919Leufs*78			proband
3045	3714			SAI	yes	c.2499 G>A p.G766D			son
3046	3715			SAI	yes	c.2499 G>A p.G766D			son
2814	3455			SAI	yes	c.2499G>A p.G766D			proband
3133	3768			SAITO	no				proband
715	650.SL			SAL	""	""	""	""	proband	SP
1752	2567			SAM
1778	2566 B			SAM	arrivato come DNA				proband
1779	2567 b			SAM	arrivato come DNA
1751	2566			SAM					proband
164	377.AA			SAN	no	no	no	no	mother	""
163	376.SR			SAN	no	no	no	no	father	""
161	374.SF	M		SAN	no	no	no	no	proband	EX SP
162	375.SA			SAN	no	no	no	no	sister	""
916	846			SAP	no		""	""	proband	micro?
3047	846 b			SAP	no				proband	hematuria
411	213.SM			SAR	""	""	""	""	proband	AR-2?
412	214.SR			SAR	""	""	""	""	""	""
1985	2769			SAT	no	no			proband
1986	2770			SAT					mother	C 1891
1987	2771			SAT					father
2781	2770 b			SAT					mother	C 1891
1339	2303			SAV					proband
1335	2299			SAV	no		no	no	son
1336	2300			SAV					daughter
1338	2302			SAV					cousin
1343	2307			SAV					mother
1340	2304			SAV					sister
1341	2305			SAV					wife
1342	2306			SAV					sister
1337	2301			SAV					cousin
2180	3006			SBO	no		n.a.	n.a.	proband
2181	3007			SBO	segregation analysis not available				mother
2182	3008			SBO	segregation analysis not available				father
2183	3009			SBO	segregation analysis not available				brother
28	290.SS			SCA	m-no	""	""	""	""	""
29	291.SC			SCA	m-yes	""	""	""	""	""
2150	293.SM b			SCA	analysis not available				""	""
30	292.SA			SCA	m-yes	""	""	""	proband	X-4
31	293.SM			SCA	m-yes	""	""	""	""	""
1334	2298			SCH					proband
2932	3624			SCK	yes	IVS36+1G>A			proband
1992	2775			SCO	yes			c.2437 C>Tp.Pro325Ser	proband
3012	3685			SCO	no				mother
3013	3686			SCO	yes			c.2437 C>Tp.Pro325Ser	father
1960	2752			SCP	yes	c.3317G>A p.G1039S in eterozigosi			mother
1959	2751			SCP	yes	c.3317G>A p.G1039S			proband
2209	3031			SCP	no		n.a.	n.a.	sister
1209	2144			SCR	""	""	""	""	sister	""
1208	2143			SCR	""	no	""	""	proband	""
1212	2147			SCR	""	""	""	""	nephew	""
1211	2146			SCR	""	""	""	""	nephew	""
1210	2145			SCR	""	""	""	""	mother	""
248	402.SL			SDA	""	""	""	""	""	""
249	403.DC			SDA	""	""	""	""	""	""
247	400.SG			SDA	""	""	""	""	proband	NV?
361	165.SM			SEB	""	""	""	""	proband	EX
629	564.SG			SED	""	""	""	""	""	""
628	563.SM			SED	""	""	""	""	proband	X-3
627	562.SA			SED	""	""	""	""	""	""
3021	3693			SEG	yes			c.2575G>A p.Gly859Arg	proband
3022	3694			SEG	yes			c.2575G>A p.Gly859Arg	son
3023	3695			SEG	yes			c.2575G>A p.Gly859Arg	son
3024	3696			SEG	na				husband
842	764			SER	m-no	no	no	no	proband	AR
843	765			SER	no	no	no	no	father	""
845	767			SER	no	no	no	no	mother	""
844	766			SER	no	no	no	no	brother	""
517	385.MD			SES	m-yes	1981+1G ->T	""	""	""	""
896	826			SES	m-no	no	""	""	""	""
516	384.SL			SES	m-yes	1981+1G ->T	""	""	proband	X-3
983	918			SET	m-no	no	""	""	proband	AR
984	919			SET	""	""	""	""	""	""
985	920			SET	""	""	""	""	""	""
2020	2802 arrivato come DNA			SFI	no		no		proband
2478	3164			SFN	segregation analysis not available				father
2477	3163			SFN	segregation analysis not available				brother
2476	3162			SFN	no			n.a.	proband
2479	3165			SFN	segregation analysis not available				mother
364	394.NM			SGR	m-yes	""	""	""	""	""
365	395.SF			SGR	m-yes	gly(GGA)325>arg(AGA)	""	""	proband	X-3
362	392.SS			SGR	m-yes	""	""	""	""	""
363	393.SF			SGR	m-yes	""	""	""	""	""
269	048.BA			SGU	""	""	""	""	""	""
1475	046.SG			SGU	""	""	""	""	proband	X-5
1476	047.SA			SGU	""	""	""	""	""	""
268	047.SA			SGU	""	""	""	""	""	""
1477	048.BA			SGU	""	""	""	""	""	""
267	046.SG			SGU	yes	c.4165Gdel	""	""	proband	X-5
955	890			SHR	no	no	no	no	""	""
956	891			SHR	no	no	no	no	""	""
953	888			SHR	no	no	no	no	""	""
484	534.SS			SHR	no	no	no	no	proband	AR-3?
954	889			SHR	no	no	no	no	""	""
1894	2694			SIA	no	no			proband
1904	2694 B/ arrivato come DNA			SIA	no	no			proband
1596	2426			SIF	no	no			proband
1595	2425			SIF
1594	2424			SIF
2353	3190b			SIL	yes	g.107725454_107725489del36			proband
2514	3190			SIL	yes	g.107725454_107725489del36	n.a.	n.a.	proband
2877	3583			SIL	yes	g.107725454_107725489del36			daughter
2981	3660			SIN	na				mother
2980	3659			SIN	na				father
2979	3658			SIN	no				proband
88	2178			SLM	m-NO	NO	""	""	""	""
1078	2014			SLM	m-yes ; MYH9	NO	""	""	proband	""
1491	2328			SLM	M-yes ; MYH9	N0			son
89	2179			SLM	m-NO	NO	""	""	""	""
2702	3361			SLO	no	no			mother
2701	3360			SLO	no	no			father
2700	3359			SLO	yes	c.3822G>A (p.G1202E)			proband
60	269.ST			SLU	m-yes	""	""	""	proband	X-4
626	561.LM			SLU	m-yes	""	""	""	""	""
1804	2613			SLV
1794	2604			SLV					proband
1805	2614			SLV
1795	2605			SLV					mother
665	600.SF			SMN	""	""	""	""	proband	EX
664	599.SS			SMN	""	""	""	""	""	""
2817	3458			SNE	na				mother
2816	3457			SNE	na				father
2815	3456 NON ANALIZZARE			SNE NON ANALIZZARE	na	NON ANALIZZARE	NON ANALIZZARE	NON ANALIZZARE	proband
1681	2502			SNT
1646	2471			SNT					mother
1647	2472			SNT	no	sostituzioni non patogenetiche			proband
1683	2504			SNT
1680	2501			SNT
1682	2503			SNT
1684	2505			SNT
1648	2473			SNT					father
2865	3494			SNZ					proband
2332	3520			SOL	na				mother
2330	3518			SOL	na				sister
2331	3519			SOL	na				father
2329	3517			SOL	na				proband
72	2162			SOR	no	no	no	""	proband	""
1223	2158			SOR	""	""	""	""	brother	""
1224	2159			SOR	""	""	""	""	sister	""
71	2161			SOR	""	""	""	""	son	""
73	2163			SOR	""	""	""	""	mother	""
70	2160			SOR	""	""	""	""	son	""
348	121.SJ			SOS	no	no	no	no	proband	SP
349	122.VR			SOS	no	no	no	no	mother	""
2560	3231			SPA	segregation analysis not available				daughter
2558	3229			SPA	no				proband
2559	3230			SPA	segregation analysis not available				sister
2574	3229 b			SPA	segregation analysis not available				proband
2561	3232			SPA	segregation analysis not available				nephew
2935	3229 c			SPA	no				proband
2082	2912			SPC	segregation analysis not available				brother
2083	2911			SPC	segregation analysis not available				mother
2084	2913			SPC	segregation analysis not available				matermal aunt
2081	2910			SPC	segregation analysis not available				father
2080	2909			SPC	no			n.a.	proband
2350	3288b			SPD	no	negativo parziale			proband
2627	3288			SPD	no		n.a.	n.a.	proband	AO Santa Chiara Pisa dott. Puccini
1990	2773			SPE					proband
1989	2772			SPE					mother	xlinked
1991	2774			SPE					proband
976	911			SPG	""	""	""	""	daughter	""
975	910			SPG	""	""	""	""	father	""
978	913			SPG	""	""	""	""	mother	""
977	912			SPG	m-no	no	""	""	proband	X/AD
19	138.FG			SPI	""	""	""	""	""	""
1486	139.SB			SPI	no	""	""	""	proband	X-2
482	521.SS			SPI	""	""	""	""	""	""
3058	138.FG b			SPI	na				mother	""
3057	139.SB b			SPI	no				proband	X-2
3059	521.SS b			SPI	na				father	""
723	658.CF			SPN	m-yes	""	""	""	""	""
722	657.CC			SPN	m-yes	""	""	""	""	""
721	656.CA			SPN	m-no	""	""	""	""	""
720	655.SS			SPN	m-yes	""	""	""	""	""
719	654.CA			SPN	m-yes	""	""	""	""	""
718	653.SM			SPN		no:	""	""	""	""
717	652.SC			SPN		si:	""	""	""	""
663	598.SG			SPN	m-yes	""	""	""	proband	X-6
2758	3415			SPZ	no				proband
2759	3416			SPZ	na				mother
2760	3417			SPZ	na				aunt
1197	2132			SQZ	""	no	""	""	proband	""
488	537.SO			SRA	""	""	""	""	proband	X-2
726	661.SQ			SRC	no	no	no	si:D1347E	""	""
725	660.Sm			SRC	no	no	no	no	""	""
808	743			SRG	m-no	no	""	""	proband	X-3
809	744			SRG	""	""	""	""	""	""
810	745			SRG	""	""	""	""	father	""
2832	745b			SRG	""	""	""	""	father	""
1007	942			SRL	""	""	""	""	proband	X-2
1008	934			SRL	""	""	""	""	""	""
780	715.SM			SRN	no	""	""	""	proband	X-2
2301	715 SM.b			SRN	no				proband	X-2
100	2190			SRO	""	""	""	""	paternal grandmother	""
99	2189			SRO	""	""	""	""	proband	AD-XL?
102	2192			SRO	""	""	""	""	mother	""
101	2191			SRO	""	""	""	""	father	AD-XL,
98	2188			SRO	""	""	""	""	paternal uncle	AD-XL?
724	659.SL			SRO	no	no	no	D1347E	proband	SP
2269	3081			STA	no	n.a.	no	n.a.	proband
2270	3082			STA	segregation analysis not available				father
2271	3083			STA	segregation analysis not available				mother
1544	2379			STE					proband
2388	2740 II			STI
1946	2739			STI
1947	2740			STI	yes	no	no	c.3134G>T + c.3440C>T
1944	2737			STI
1951	2744			STI	yes	no	no	c.3440C>T
1950	2743			STI	yes	no	no	c.3134G>T	father
1949	2742			STI	no	no			proband
1945	2738			STI
1948	2741			STI	no	no			proband
2762	2740 lavato			STI
2800	2743lavato			STI
2799	2738lavato			STI
2789	2744lavato			STI	na
2790	2739lavato			STI
639	574.SI			STJ	""	""	""	""	proband	X-2
638	573.TL			STJ	""	""	""	""	""	""
761	696.IR			STL	""	""	""	""	""	""
762	697.SG			STL	""	""	""	""	proband	X-2?
764	699.IV			STL	""	""	""	""	""	""
763	698.SM			STL	""	""	""	""	""	""
97	2187			STO	""	""	""	""	uncle	""
94	2184			STO	negatività parziale	negatività parziale	""	""	proband	""
95	2185			STO	""	""	""	""	father	""
1816	2184b			STO					proband
96	2186			STO	""	""	""	""	mother	""
934	869			STR	""	""	""	""	maternal cousin	""
933	868			STR	""	""	""	""	mother	""
932	867			STR	""	""	""	""	proband	""
935	870			STR	""	""	""	""	maternal cousin	""
936	871			STR	""	""	""	""	maternal aunt	""
2318	3512			STT	no				proband
2698	3357			SUG	na				sister
2697	3356			SUG	no	no			proband
2718	3377			SUL	na				father
2717	3376			SUL	no	no			proband
367	275.CF			SUP	""	""	""	""	""	""
368	273.SV			SUP	""	""	""	""	""	""
369	274.SC			SUP	""	""	""	""	""	""
370	276.SM			SUP	yes	c.C3902T (p.Q1234X)	""	""	proband	X-6
2900	3602			SUP	yes	c.3902C>T p.Q1234X			daughter
2909	276b			SUP	yes	c.C3902T (p.Q1234X)			proband	X-6
633	568.CM			SVH	""	""	""	""	""	""
632	567.SB			SVH	""	""	""	""	proband	X-5
1297	2899			SZN	segregation analysis not available				father
1298	2900			SZN	segregation analysis not available				mother
1296	2898			SZN	no		n.a.	n.a.	proband
1299	2901			SZN	segregation analysis not available				stepbrother
1300	2902			SZN	segregation analysis not available				brother
1915	2710 / arrivato come DNA			TAL	yes	IVS11+21T>C polimorfismo descritto			proband
2444	3134			TAL	no				father
2445	3135			TAL	no				sister
2551	3223			TAS	no		n.a.	n.a.	proband
2552	3224			TAS	segregation analysis not available				Sorell
1378	086.TG			TCE	""	""	""	""	proband	X-4
455	091.RM			TCE	""	""	""	""	""	""
458	094.CV			TCE	""	""	""	""	""	""
457	093.RS			TCE	""	""	""	""	""	""
454	088.TM			TCE	""	""	""	""	""	""
453	087.TG			TCE	""	""	""	""	""	""
452	086.TG			TCE	""	""	""	""	proband	X-4
456	092.RG			TCE	""	""	""	""	""	""
799	734			TCH	m-no	no	""	""	proband	X-3
800	735			TCH	""	""	""	""	sister	""
801	736			TCH	""	""	""	""		""
2407	3106			TED	yes	c.3290G>A p.G1030S + IVS10+21T>C	n.a.	n.a.	proband
2408	3107			TED	yes	c.3290G>A p.G1030S + IVS10+21 T>C			brother
2306	3503			TED	yes	c.3290G>A p.G1030S			proband
2951	3634			TER	yes			IVS c.2487-2A>C	proband
1500	2335			TLR	na				father
1499	2334			TLR	no	no	no		proband
1501	2336			TLR	na				mother
2780	2334 b			TLR	na				proband
2913	3438b			TNS	yes	c. 2723G>A p.Gly908Glu			proband
2785	3438			TNS	yes	c. 2723 G>A p.Gly908Glu			proband
413	251.BG			TOB	m-yes	""	""	""	""	""
414	252.TL			TOB	m-yes	""	""	""	proband	X-2
2023	2805			TOD					father
2024	2806			TOD					mother
2022	2804			TOD	no	no	no		proband
150	2240			TOG	""	""	""	""	father	""
151	2241			TOG	no	no	""	""	proband	""
149	2239			TOG	""	""	""	""	mother	""
1136	2071			TOL	no	no	no	no	proband	""
2054	2834			TOM	segregation analysis not available				mother
2053	2833			TOM	no	n.a.		n.a.	proband
1655	2480			TOO					maternal grandmother
1654	2479			TOO					father
1652	2477			TOO	no	no			proband
1653	2478			TOO					mother
710	639.LA			TOR	""	""	""	""	""	""
709	638.TI			TOR	""	""	""	""	proband	SP
1090	2025			TOT	""	""	""	""	""	""
1089	2024			TOT	no	no	no	""	proband	""
1593	2025C			TOT					mother
1592	2242B			TOT					sister
152	2242			TOT	""	""	""	""	sister	""
1589	2422			TOT					brother sano
1613	2024B			TOT	no	no	no		proband
1591	2024B1			TOT	no	no	no		proband
1590	2423			TOT					father
153	2025B			TOT	""	""	""	""	mother	""
2761	3418			tpp	no				proband
1360	2324			TPV	no	no			proband
271	081.T			TRA	yes	c.4526G>A	""	""	mother	""
270	080.TA			TRA	yes	c.4526G>A	""	""	proband	X-7
2246	3064			TRA	segregation analysis not available
2615	3278			TRA	yes	c.4526G>A p.G1442S			V grade family member
2247	3065			TRA	yes	c.4526G>A p.G1442S	n.a.	n.a.
2243	3061			TRA	yes	c.4526G>A p.G1442S
2244	3062			TRA	no
2245	3063			TRA	yes	c.4526G>A p.G1442S	n.a.	n.a.
1693	2509			TRF
1695	2511			TRF
1696	2512			TRF		&
1694	2510			TRF	no	‘’’’	no
2115	2943			TRI	no	n.a.		n.a.	proband
2966	3646			TRL	no				proband
2589	3252			TRR	analysis not available				proband
2588	3251			TRR	analysis not available				father
729	664.RD			TRU	m-yes	4200-2A->G sito splicing 3’ intr 43	""	""	""	""
727	662.TG			TRU	m-yes	4200-2A->G sito splicing 3’ intr 43	""	""	""	""
728	663.RG			TRU	m-yes	4200-2A->G sito splicing 3’ intr 43	""	""	proband	X->4??
2614	3277			TRV	analysis not available				mother
2613	3276			TRV	analysis not available				father
2612	3275			TRV	analysis not available				proband
2372	3275b			TRV	na				proband
1002	937			TSA	""	""	""	""	proband	X
1003	938			TSA	""	""	""	""	proband	""
1004	939			TSA	""	""	""	""	""	""
2772	3427			TSR	no				proband
2773	3428			TSR	na				mother
2774	3429			TSR	na				brother
2775	3430			TSR	na				father
920	850			TTL	m-yes	""	""	""	proband	""
922	852			TTL	""	""	""	""	""	""
923	853			TTL	""	""	""	""	""	""
924	854			TTL	""	""	""	""	""	""
931	866			TTL	""	""	""	""	""	""
957	892			TTL	""	""	""	""	""	""
921	851			TTL	""	""	""	""	""	""
2304	3501			TUC	na				father
2305	3502			TUC	na				mother
2303	3500			TUC	no				proband
3025	3697			TUI	no				proband
3028	3700			TUI	na				mother
3029	3701			TUI	na				stepfather
3026	3698			TUI	na				sister
3027	3699			TUI	na				sister
119	2209			TUR	""	""	""	""	proband	""
3080	2209 b			TUR	no				proband
1893	2693			UGO	no	no			proband
2548	3220	M	40	USA	yes		c.2796G>A, p.G999E+ c.2752G>A, p.G918R		father
2549	3221	M	18	USA	yes		c.2796G>A, p.G999E+ c.2752G>A, p.G918R		brother
2550	3222			USA	no				mother
2547	3219	M	13	USA	yes		c.2796G>A, p.G999E + c.2752G>A, p.G918R		proband	AD	Fallerini C, et al. Clin Genet. 2013 Sep 4. doi: 10.1111/cge.12258. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/24033287
491	543.UC			UZG	yes	1482insA	""	""	proband	NV?
2635	3296			VAL	yes		c.4268delC p.Pro1423Lysfs*129		proband	UO Genetica medica S.Orsola Malpighi
2923	3616			VAR	na				brother
2922	3615			VAR	na				proband
2936	3627			VAS	yes	c.1086G>A p.G295D			brother
2763	3419			VAS	yes	c.1086G>A p.G295D			proband
2765	3421			VAS	na				father
2764	3420			VAS	yes	c.1086G>A p.G295D			mother
884	814			VEN	""	""	""	""	""	""
883	813			VEN	m-no	no	""	""	proband	X/AD
882	812			VEN	""	""	""	""	""	""
881	811			VEN	""	""	""	""	""	""
2657	3317			VEO	segregation analysis not available				maternal grandmother	CONS 3309
2325	3315 B			VEO	no	no			proband	CONS 3309
2656	3316			VEO	segregation analysis not available				mother	CONS 3309
2655	3315			VEO	no		n.a.	n.a.	proband	CONS 3309
2469	2637 b			VER	no		no		father
1831	2636			VER					proband
1832	2637			VER	no		no		father
1834	2639			VER					mother
1833	2638			VER					sister
2957	3639			VES	no				proband
2958	3640			VES	na				son
3137	3772			VEZ	na				proband
3138	3773			VEZ	na				son
2988	3666			VID	yes	c.1957G>T p.Gly653Trp			proband
2691	3350			VIG	no				proband
1087	2022			VII	""	""	""	""	""	""
1265	2871			VII	segregation analysis not available				father
1266	2022 B			VII	no				proband
1789	2599			VIN
1788	2598			VIN
2126	2954			VIS	no		n.a.	n.a.
1599	2429			VIS
2125	2953			VIS	no		n.a.	n.a.
2124	2952			VIS	no		n.a.	n.a.
2123	2951			VIS	no		n.a.	n.a.
1597	2427			VIS	no	no
1598	2428			VIS	no	no
2127	2955			VIS	segregation analysis not available
90	2180			VIT	""	""	""	""	sister	""
20	140.MD			VIT	""	""	""	""	mother	""
2582	141.VG b			VIT	segregation analysis not available				proband	""
2583	2180 b			VIT	no				proband	""
2581	140.MD b			VIT	segregation analysis not available				mother	""
481	520.VS			VIT	""	""	""	""	father	""
21	141.VG			VIT	no	""	no	""	proband	X-3
2864	3493			VIV	yes	c.782A>G, p.I194V			proband
1466	037.VM			VIZ	m-yes	""	""	""	proband	SP?
1465	037.VM			VIZ	m-yes	""	""	""	proband	SP?
350	037.VM			VIZ	m-yes	""	""	""	proband	SP?
351	055.V			VIZ	m-no	""	""	""	""	""
2959	3641			VLN	yes			c.1616delG, p.Glu539Lysfs*567 c.1616delG, p.Glu539Lysfs*567	proband
2960	3642			VLN	yes			c.1616delG, p.Glu539Lysfs*567	mother
2662	3322			VNN	no	no			proband	Cons 3355
2929	3322b			VNN	no				proband	Cons 3355
1602	2432			VNR
1604	2434			VNR
1603	2433			VNR
1600	2430			VNR	no	no			proband
1601	2431			VNR
382	346.VL			VOL	""	""	""	""	""	""
381	345.AR			VOL	""	""	""	""	""	""
380	344.VS			VOL	""	""	""	""	proband	AR-2
1371	346.VL			VOL	""	""	""	""	""	""
2438	3131			VRA	yes	c.2448 G>T p.G749V			mother
2436	3129			VRA	yes	c.2448 G>T p.G749V	n.a.	n.a.	proband
2437	3130			VRA	segregation analysis not available				father
2802	3130 II			VRA					father
2852	3484			VSL	yes			c.778G>T p.Glu260*	father
2855	3487			VSL	yes			c.778G>T p.Glu260*);IVS c.3566-1G>A	proband
2853	3485			VSL	no			IVS c.3566-1G>A	mother
2854	3486			VSL	no			IVS c.3566-1G>A	brother
861	778			VTN	""	""	""	""	""	""
2117	2945			VTU	yes	c.1003_1004insG p.Pro268fsX284 + IVS48-22C>G			father
2118	2946			VTU	no	IVS48-22C>G			mother
2116	2944			VTU	no	IVS48-22C>G	n.a.	n.a.	proband
1927	2721			wei	yes			c.1933-1934insG p.R645fsX690 + c.4802-4804delT p.1601fs1614X	sister
1926	2720			wei	yes		no	c.1933-1934insG R645fsX690	mother
1925	2719			wei	yes			c.4802-4804delT p.1601fs1614X	father
1924	2718			wei	yes		no	c.1933-1934insG p.R645fsX690 + c.4802-4804delT p.1601fs1614X	proband
186	287.VN			WEN	no	no	no	no	proband	SP
782	717.MA			XXX	m-yes	""	""	""	""	""
781	716.GS			XXX	m-yes	""	""	""	proband	X-2
1733	2547			YTS	yes	ivs6+1G>A			mother
1732	2546			YTS	no	no			father
1734	2548			YTS	yes	ivs6+1G>A			daughter
1735	2549			YTS	yes	ivs6+1G>A			son
1736	2550			YTS	no	no			son
1737	2551			YTS	no	no			daughter
783	718.FE			YYY	m-no	""	""	""	""	""
785	720.FB			YYY	m-yes	""	""	""	proband	SP
2618	720.FB b			YYY	yes	c.2220delG p.V677X	n.a.	n.a.	proband	SP
2652	720.FB c			YYY	yes	c.2220delG p.V677X	n.a.	n.a.	proband	SP
2653	3313			YYY	yes	c.2220delG p.V677X	n.a.	n.a.	fetus
2654	3314			YYY	analysis not available	""	""	""	husband
784	719.BS			YYY	m-no	""	""	""	""	""
2378	3555_R			ZAC	na				proband
2942	3555			ZAC	no				proband
1082	2017			ZAM	""	""	""	""	""	""
1498	2297			ZAM					proband
1081	2016			ZAM	""	""	""	""	""	""
1083	2018			ZAM	no	no	no	""	proband	""
2205	3027			ZAN	analysis not available				maternal aunt
2208	3030			ZAN	analysis not available				cousin
2204	3026			ZAN	analysis not available				materna aunt
2098	2927			ZAN	yes	c.1277G>A.G359R			proband
2207	3029			ZAN	analysis not available				mother
2206	3028			ZAN	analysis not available				maternal aunt
2713	3372			ZAT	no	no			proband
2530	3205			ZER	segregation analysis not available				father
2531	3206			ZER	segregation analysis not available				mother
2529	3204			ZER	no				proband
252	328.ZA			ZFE	m-yes	""	""	""	""	""
253	329.FP			ZFE	m-yes	""	""	""	proband	X-2
254	332.BE			ZFE	m-yes	""	""	""	""	""
251	327.ZP			ZFE	m-no	""	""	""	""	""
250	326.FA			ZFE	m-no	""	""	""	""	""
2336	3524			ZII	yes	duplicazione ex.31-36			proband
1189	2124			ZIL	""	""	""	""	""	""
1190	2125			ZIL	""	""	""	""	""	""
1191	2126			ZIL	""	""	""	""	""	""
480	524.ZD			ZIL	yes	no	si:G448S	no	proband	AR-2?
2661	3321			ZLL	segregation analysis not available				mother
2659	3319			ZLL	segregation analysis not available				father
2658	3318			ZLL	segregation analysis not available				sister
2660	3320			ZLL	yes	c.1909G>A p.Gly637Arg			proband
2443	3133			ZMP	no	n.a.		n.a.	proband
398	148.MF			ZOR	yes	c.G633A p.G144R	""	""	""	""
400	150.ZF			ZOR	yes	c.G633A p.G144R	""	""	proband	X-3
399	149.ZT			ZOR	""	""	""	""	""	""
397	147.ZE			ZOR	""	""	""	""	""	""
296	025.AP			ZPA	m-yes	""	""	""	""	""
295	024.AG			ZPA	m-yes	""	""	""	""	""
294	023.PM			ZPA	m-yes	""	""	""	""	""
293	021.ZS			ZPA	m-yes	""	""	""	""	""
297	026.AP			ZPA	m-yes	""	""	""	proband	X-3
1357	2321			ZSA					brother
1922	2320C			ZSA	no	no	no		proband
1761	2320B			ZSA	no	no	no		proband
1358	2322			ZSA					father
1356	2320			ZSA	no	no	no		proband
1359	2323			ZSA					mother
2364	3544			ZZA	yes	c.3319G>A Gly1107Arg			proband
2365	3545			ZZA	na				father
2366	3546			ZZA	yes	c.3319G>A Gly1107Arg			mother

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