Legend
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Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Gender: The gender of the reported individual.
All options:
- ? = Unknown
- F = Female
- M = Male
- rF = Raised as female
- rM = Raised as male
Ethnic origin: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).
Age of death: The age at which the individual deceased, if known and applicable.
- 35y = 35 years
- 04y08m = 4 years and 8 months
- 18y? = around 18 years
- >54y = still alive at 55
- ? = unknown
Cause of death: The cause of the individual's death, if known and applicable.
Remarks: Remarks about the individual.
Variants in genes: The individual has variants for this gene.
Panel size: How many individuals does this entry represent?
|
Legend |
Individual ID
|
Reference
|
Gender
|
Ethnic origin
|
Age of death
|
Cause of death
|
Remarks
|
Disease
|
Genes screened
|
Variants in genes
|
Variants
|
Panel size
|
Owner
|
00000551 |
Bertoli-Avella et al (2015) |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000552 |
Bertoli-Avella et al (2015) |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000553 |
Bertoli-Avella et al (2015) |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000554 |
Bertoli-Avella et al (2015) |
F |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000555 |
Bertoli-Avella et al (2015) |
F |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000556 |
Bertoli-Avella et al (2015) |
F |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000557 |
Bertoli-Avella et al (2015) |
F |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000558 |
Bertoli-Avella et al (2015) |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000559 |
Bertoli-Avella et al (2015) |
F |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000560 |
Bertoli-Avella et al (2015) |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000561 |
Bertoli-Avella et al (2015) |
F |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000562 |
Bertoli-Avella et al (2015) |
F |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000563 |
Bertoli-Avella et al (2015) |
- |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000564 |
Bertoli-Avella et al (2015) |
F |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000565 |
Bertoli-Avella et al (2015) |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000566 |
Bertoli-Avella et al (2015) |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000567 |
Bertoli-Avella et al (2015) |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000568 |
Bertoli-Avella et al (2015) |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000569 |
Bertoli-Avella et al (2015) |
F |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000570 |
Bertoli-Avella et al (2015) |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000571 |
Bertoli-Avella et al (2015) |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000572 |
Bertoli-Avella et al (2015) |
F |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000573 |
Bertoli-Avella et al (2015) |
F |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000574 |
Bertoli-Avella et al (2015) |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000575 |
Bertoli-Avella et al (2015) |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000576 |
Bertoli-Avella et al (2015) |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000577 |
Bertoli-Avella et al (2015) |
F |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000578 |
Bertoli-Avella et al (2015) |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000579 |
Bertoli-Avella et al (2015) |
F |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000580 |
Rienhoff et al (2013) |
F |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000581 |
Kuechler et al (2015) |
F |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000582 |
Kuechler et al (2015) |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000583 |
Kuechler et al (2015) |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000584 |
Matyas et al (2014) |
- |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000585 |
- |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000586 |
- |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000587 |
- |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000588 |
- |
F |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000589 |
- |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000590 |
- |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000591 |
- |
F |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000592 |
- |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000593 |
- |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000594 |
- |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000595 |
- |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000596 |
- |
- |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000597 |
- |
M |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000598 |
- |
F |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000599 |
- |
F |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000600 |
- |
F |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000601 |
- |
F |
- |
- |
- |
- |
LDS5 |
TGFB3 |
TGFB3 |
1 |
1 |
Giada Tortora |
00000623 |
- |
M |
- |
- |
- |
- |
LDS5 |
SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 |
TGFB3 |
1 |
1 |
Alessandra Maugeri |
00000624 |
- |
M |
- |
- |
- |
- |
LDS5 |
SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 |
TGFB3 |
1 |
1 |
Alessandra Maugeri |
|
Legend |