rs1568689930
|
1.000 |
0.160 |
19 |
1206993 |
frameshift variant |
-/C
|
delins
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1568689994
|
1.000 |
0.160 |
19 |
1207017 |
frameshift variant |
CT/-
|
delins
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs121913324
|
1.000 |
0.160 |
19 |
1207022 |
stop gained |
C/T
|
snv
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1060499961
|
1.000 |
0.160 |
19 |
1207041 |
frameshift variant |
C/-
|
delins
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1568690161
|
1.000 |
0.160 |
19 |
1207064 |
frameshift variant |
-/T
|
delins
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1131690917
|
1.000 |
0.160 |
19 |
1207066 |
frameshift variant |
GGG/-;G;GGGG
|
delins
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
1999 |
2013 |
rs137854584
|
1.000 |
0.160 |
19 |
1207082 |
stop gained |
G/T
|
snv
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1555735001
|
1.000 |
0.160 |
19 |
1207091 |
frameshift variant |
-/AC
|
delins
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1555735008
|
1.000 |
0.160 |
19 |
1207093 |
frameshift variant |
C/-
|
del
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs778376925
|
1.000 |
0.160 |
19 |
1207093 |
stop gained |
C/A;G;T
|
snv
|
1.2E-05
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs397518441
|
1.000 |
0.160 |
19 |
1207109 |
frameshift variant |
-/T
|
delins
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1555735014
|
1.000 |
0.160 |
19 |
1207112 |
frameshift variant |
C/-
|
del
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs137853077
|
1.000 |
0.160 |
19 |
1207113 |
missense variant |
T/C
|
snv
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.810 |
1.000 |
11 |
1998 |
2019 |
rs137853076
|
1.000 |
0.160 |
19 |
1207163 |
stop gained |
A/G;T
|
snv
|
4.1E-06
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
4 |
1998 |
2007 |
rs1057520039
|
0.882 |
0.200 |
19 |
1207169 |
stop gained |
C/G;T
|
snv
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
1999 |
2016 |
rs1555735080
|
1.000 |
0.160 |
19 |
1207203 |
splice donor variant |
GTAAGTA/-
|
delins
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2004 |
2005 |
rs1131690950
|
1.000 |
0.160 |
19 |
1207204 |
splice donor variant |
G/A;C
|
snv
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1568690546
|
1.000 |
0.160 |
19 |
1207205 |
splice donor variant |
TAA/-
|
del
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2004 |
2005 |
rs876658584
|
1.000 |
0.160 |
19 |
1218415 |
splice acceptor variant |
A/G
|
snv
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
4 |
1999 |
2013 |
rs112675807
|
1.000 |
0.160 |
19 |
1218416 |
splice acceptor variant |
G/A;C;T
|
snv
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
2000 |
2005 |
rs1057520040
|
1.000 |
0.160 |
19 |
1218449 |
missense variant |
A/G
|
snv
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
1999 |
1999 |
rs1555737480
|
1.000 |
0.160 |
19 |
1218502 |
splice donor variant |
T/C
|
snv
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs864622707
|
1.000 |
0.160 |
19 |
1219343 |
frameshift variant |
T/-
|
del
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs587782424
|
1.000 |
0.160 |
19 |
1219346 |
frameshift variant |
TG/-
|
delins
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1060499958
|
1.000 |
0.160 |
19 |
1219356 |
missense variant |
T/C
|
snv
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|