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 |
rs121913315
|
0.882 |
0.160 |
19 |
1220488 |
missense variant |
G/A;T
|
snv
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
21 |
1998 |
2014 |
rs137853082
|
1.000 |
0.160 |
19 |
1220700 |
stop gained |
G/A;C
|
snv
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
15 |
1998 |
2017 |
rs1057520042
|
1.000 |
0.160 |
19 |
1222988 |
missense variant |
G/C
|
snv
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
14 |
1998 |
2017 |
rs730881979
|
1.000 |
0.160 |
19 |
1220434 |
missense variant |
G/A
|
snv
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
13 |
1997 |
2017 |
rs121913315
|
0.882 |
0.160 |
19 |
1220488 |
missense variant |
G/A;T
|
snv
|
|
|
melanoma
|
Neoplasms
|
0.800 |
1.000 |
1 |
1999 |
1999 |
rs137853080
|
1.000 |
0.040 |
19 |
1207058 |
missense variant |
T/G
|
snv
|
|
|
melanoma
|
Neoplasms
|
0.800 |
|
0 |
|
|
rs137853081
|
1.000 |
0.040 |
19 |
1219352 |
missense variant |
G/C;T
|
snv
|
|
|
melanoma
|
Neoplasms
|
0.800 |
|
0 |
|
|
rs1131690940
|
1.000 |
0.160 |
19 |
1220641 |
stop gained |
C/T
|
snv
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
9 |
1998 |
2015 |
rs1057520041
|
1.000 |
0.160 |
19 |
1220438 |
missense variant |
T/A
|
snv
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
1 |
2003 |
2003 |
rs137853083
|
1.000 |
0.160 |
19 |
1221216 |
stop gained |
C/G;T
|
snv
|
4.0E-06
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
1 |
2004 |
2004 |
rs587776661
|
1.000 |
0.160 |
19 |
1221976 |
frameshift variant |
G/-
|
delins
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
1 |
2019 |
2019 |
rs786202431
|
1.000 |
0.160 |
19 |
1223007 |
missense variant |
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 |
8 |
1998 |
2011 |
rs1131690935
|
|
|
19 |
1221973 |
inframe deletion |
GGTTCTCCATCCGGCAGA/-
|
delins
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
7 |
1992 |
2014 |
rs121913315
|
0.882 |
0.160 |
19 |
1220488 |
missense variant |
G/A;T
|
snv
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
7 |
1999 |
2013 |
rs1568708382
|
1.000 |
0.160 |
19 |
1220708 |
missense variant |
G/A
|
snv
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
7 |
2001 |
2014 |
rs1131690950
|
1.000 |
0.160 |
19 |
1207204 |
splice donor variant |
G/A;C
|
snv
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
6 |
2001 |
2015 |
rs1131690940
|
1.000 |
0.160 |
19 |
1220641 |
stop gained |
C/T
|
snv
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
5 |
1998 |
2006 |
rs121913321
|
1.000 |
0.160 |
19 |
1221315 |
frameshift variant |
CC/-;C;CCC
|
delins
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
5 |
1998 |
2010 |
rs1568710381
|
1.000 |
0.160 |
19 |
1221976 |
missense variant |
G/A
|
snv
|
|
|
Peutz-Jeghers Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
5 |
1999 |
2017 |
rs730881973
|
|
|
19 |
1220451 |
missense variant |
C/A;G
|
snv
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
5 |
1999 |
2013 |
rs786201090
|
1.000 |
0.160 |
19 |
1221996 |
missense variant |
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 |
5 |
1999 |
2010 |
rs886037859
|
1.000 |
0.160 |
19 |
1220450 |
missense variant |
A/G
|
snv
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
5 |
1999 |
2013 |
rs1131690951
|
|
|
19 |
1218501 |
splice donor variant |
A/G
|
snv
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
4 |
2002 |
2007 |
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 |