rs1060500186
|
1.000 |
0.120 |
12 |
12717887 |
frameshift variant |
GACG/-
|
delins
|
|
|
Multiple Endocrine Neoplasia, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs121917832
|
0.925 |
0.200 |
12 |
12718066 |
stop gained |
G/A
|
snv
|
|
|
Multiple Endocrine Neoplasia, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1555085575
|
1.000 |
0.120 |
12 |
12718118 |
frameshift variant |
-/C
|
delins
|
|
|
Multiple Endocrine Neoplasia, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs532903617
|
1.000 |
0.120 |
12 |
12718106 |
stop gained |
C/G;T
|
snv
|
4.0E-06
|
1.4E-05
|
Multiple Endocrine Neoplasia, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs774454456
|
0.925 |
0.120 |
12 |
12717808 |
5 prime UTR variant |
AGAG/-
|
delins
|
3.8E-04
|
3.8E-04
|
Multiple Endocrine Neoplasia, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs777354267
|
1.000 |
0.120 |
12 |
12718045 |
missense variant |
C/T
|
snv
|
4.0E-06
|
2.1E-05
|
Multiple Endocrine Neoplasia, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs786201007
|
1.000 |
0.120 |
12 |
12717896 |
frameshift variant |
-/AGGCGGAGCACCCCAAGCC
|
delins
|
|
|
Multiple Endocrine Neoplasia, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs786201010
|
1.000 |
0.120 |
12 |
12717384 |
5 prime UTR variant |
TTCC/-
|
delins
|
|
|
Multiple Endocrine Neoplasia, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs786201011
|
1.000 |
0.120 |
12 |
12718211 |
frameshift variant |
CT/-
|
delins
|
|
|
Multiple Endocrine Neoplasia, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
0.700 |
|
0 |
|
|