rs368869806
|
0.614 |
0.480 |
9 |
95485875 |
splice acceptor variant |
C/T
|
snv
|
4.0E-06
|
7.0E-06
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs755103500
|
0.851 |
0.160 |
9 |
95516820 |
start lost |
T/C;G
|
snv
|
8.4E-06;
4.2E-06
|
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs766905791
|
0.851 |
0.160 |
9 |
95485815 |
start lost |
T/C
|
snv
|
1.2E-05
|
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs587776689
|
0.882 |
0.160 |
9 |
95453587 |
missense variant |
T/A;G
|
snv
|
|
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
5 |
1996 |
2004 |
rs1131690985
|
0.925 |
0.200 |
9 |
95449891 |
missense variant |
C/T
|
snv
|
|
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.010 |
1.000 |
1 |
2000 |
2000 |
rs1249050389
|
0.925 |
0.240 |
9 |
95485696 |
stop gained |
G/C
|
snv
|
|
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs1564032829
|
0.925 |
0.160 |
9 |
95468757 |
frameshift variant |
T/-
|
delins
|
|
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs863225055
|
0.925 |
0.160 |
9 |
95476760 |
frameshift variant |
AAAAGGGATTC/-
|
delins
|
|
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs878853856
|
1.000 |
0.160 |
9 |
95453533 |
missense variant |
A/G
|
snv
|
|
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.800 |
1.000 |
8 |
1996 |
2015 |
rs1060502268
|
1.000 |
0.160 |
9 |
95476835 |
missense variant |
C/T
|
snv
|
|
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
4 |
2003 |
2013 |
rs1554698582
|
1.000 |
0.160 |
9 |
95477618 |
inframe deletion |
ACCAGCAGGACGCCA/-
|
delins
|
|
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
4 |
1996 |
2006 |
rs1060502292
|
1.000 |
0.160 |
9 |
95468803 |
frameshift variant |
AG/-
|
delins
|
|
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
3 |
1997 |
2006 |
rs1064793921
|
1.000 |
0.160 |
9 |
95476161 |
splice acceptor variant |
T/C;G
|
snv
|
|
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
3 |
2006 |
2014 |
rs1131690986
|
1.000 |
0.160 |
9 |
95485866 |
stop gained |
G/A
|
snv
|
|
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
3 |
1997 |
2006 |
rs863224443
|
1.000 |
0.160 |
9 |
95449942 |
splice acceptor variant |
T/C
|
snv
|
|
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
3 |
2005 |
2006 |
rs1060502277
|
1.000 |
0.160 |
9 |
95476758 |
splice donor variant |
C/A;T
|
snv
|
|
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
2 |
2006 |
2006 |
rs1554695039
|
1.000 |
0.160 |
9 |
95468939 |
stop gained |
G/A
|
snv
|
|
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
2 |
1997 |
2012 |
rs1554698613
|
1.000 |
0.160 |
9 |
95477680 |
splice acceptor variant |
TTAGACAGGCATAGGCGAGCTGCAAGCAGAACAATGG/-
|
delins
|
|
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
2 |
2006 |
2006 |
rs1554700574
|
1.000 |
0.160 |
9 |
95481948 |
splice donor variant |
CAGGAGG/-
|
del
|
|
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
2 |
2006 |
2006 |
rs1554708760
|
1.000 |
0.160 |
9 |
95506541 |
frameshift variant |
AA/-
|
del
|
|
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
2 |
1997 |
2006 |
rs864622212
|
1.000 |
0.160 |
9 |
95506542 |
frameshift variant |
AG/-
|
delins
|
|
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
2 |
1997 |
2006 |
rs878853849
|
1.000 |
0.160 |
9 |
95506601 |
splice acceptor variant |
T/C;G
|
snv
|
|
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
2 |
2006 |
2006 |
rs878853852
|
1.000 |
0.160 |
9 |
95462000 |
splice acceptor variant |
T/A;C
|
snv
|
|
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
2 |
2006 |
2006 |
rs1131690987
|
1.000 |
0.160 |
9 |
95480449 |
frameshift variant |
A/-
|
del
|
|
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
1 |
1998 |
1998 |
rs1554697928
|
1.000 |
0.160 |
9 |
95476110 |
frameshift variant |
-/T
|
delins
|
|
|
Basal Cell Nevus Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
1 |
1997 |
1997 |