rs80338842
|
0.790 |
0.280 |
11 |
112086910 |
start lost |
G/A;C
|
snv
|
|
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
11 |
2001 |
2012 |
rs80338844
|
0.776 |
0.280 |
11 |
112088939 |
missense variant |
C/T
|
snv
|
2.0E-05
|
1.4E-05
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
10 |
2000 |
2015 |
rs104894304
|
0.827 |
0.240 |
11 |
112094831 |
missense variant |
A/G
|
snv
|
|
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
9 |
2001 |
2016 |
rs80338843
|
0.827 |
0.240 |
11 |
112087916 |
stop gained |
C/A;G;T
|
snv
|
4.0E-06
|
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
9 |
2000 |
2015 |
rs104894306
|
0.882 |
0.200 |
11 |
112087868 |
stop gained |
C/T
|
snv
|
|
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
7 |
2001 |
2012 |
rs104894307
|
0.851 |
0.200 |
11 |
112086908 |
start lost |
A/G;T
|
snv
|
8.0E-06
|
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
7 |
2001 |
2012 |
rs104894308
|
0.882 |
0.200 |
11 |
112087933 |
stop gained |
G/A
|
snv
|
|
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
6 |
2002 |
2010 |
rs1306475361
|
0.851 |
0.240 |
11 |
112088866 |
splice acceptor variant |
G/T
|
snv
|
4.0E-06
|
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
6 |
2002 |
2010 |
rs104894302
|
0.851 |
0.200 |
11 |
112089002 |
missense variant |
A/G;T
|
snv
|
4.0E-06
|
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
5 |
2000 |
2012 |
rs387906358
|
0.851 |
0.200 |
11 |
112088884 |
frameshift variant |
TC/-
|
delins
|
|
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
4 |
2001 |
2013 |
rs1050032491
|
0.851 |
0.240 |
11 |
112094832 |
stop gained |
T/A;C
|
snv
|
|
7.0E-06
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2001 |
2012 |
rs80338845
|
0.807 |
0.240 |
11 |
112088971 |
missense variant |
G/T
|
snv
|
|
7.0E-06
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2010 |
2015 |
rs104894309
|
0.851 |
0.200 |
11 |
112086940 |
stop gained |
C/A;T
|
snv
|
4.0E-06
|
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2002 |
2008 |
rs1566691921
|
0.882 |
0.200 |
11 |
112087856 |
splice acceptor variant |
GC/TT
|
mnv
|
|
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2009 |
2010 |
rs397514034
|
0.882 |
0.200 |
11 |
112087896 |
frameshift variant |
TC/-
|
delins
|
|
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2001 |
2009 |
rs104894305
|
0.851 |
0.240 |
11 |
112087899 |
stop gained |
C/A
|
snv
|
|
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1131691065
|
0.882 |
0.200 |
11 |
112089011 |
stop gained |
G/A
|
snv
|
|
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1555187083
|
0.851 |
0.240 |
11 |
112089012 |
splice donor variant |
G/A;T
|
snv
|
|
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs587776649
|
0.851 |
0.240 |
11 |
112087861 |
frameshift variant |
G/-
|
del
|
|
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs104894303
|
1.000 |
0.160 |
11 |
112087910 |
stop gained |
C/T
|
snv
|
|
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1060503769
|
0.925 |
0.160 |
11 |
112094805 |
stop gained |
G/A
|
snv
|
|
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1060503770
|
0.851 |
0.200 |
11 |
112094815 |
stop gained |
C/G;T
|
snv
|
4.0E-06
|
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1060503773
|
0.925 |
0.160 |
11 |
112094882 |
frameshift variant |
T/-
|
delins
|
|
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs121908983
|
1.000 |
0.160 |
11 |
112088974 |
inframe insertion |
ATT/-;ATTATT
|
delins
|
|
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555186662
|
1.000 |
0.160 |
11 |
112086924 |
frameshift variant |
GCTG/-
|
delins
|
|
|
Paragangliomas with Sensorineural Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|