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