rs387906706
|
1.000 |
0.160 |
X |
21737655 |
stop gained |
C/A
|
snv
|
|
|
DEAFNESS, X-LINKED 4 (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs387906707
|
1.000 |
0.160 |
X |
21743773 |
stop gained |
C/A
|
snv
|
|
|
DEAFNESS, X-LINKED 4 (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs387906708
|
1.000 |
0.160 |
X |
21737616 |
stop gained |
C/A
|
snv
|
|
|
DEAFNESS, X-LINKED 4 (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs759552778
|
1.000 |
0.200 |
X |
21743827 |
missense variant |
T/C
|
snv
|
1.8E-04
|
5.7E-05
|
Congenital deafness
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs1569308571
|
1.000 |
0.120 |
X |
21743794 |
frameshift variant |
-/T
|
delins
|
|
|
Progressive sensorineural hearing impairment
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs398122848
|
1.000 |
0.160 |
X |
21743752 |
frameshift variant |
C/-
|
delins
|
|
|
DEAFNESS, X-LINKED 4 (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs398122930
|
1.000 |
0.160 |
X |
21743783 |
frameshift variant |
G/-;GG
|
delins
|
|
|
DEAFNESS, X-LINKED 4 (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1060499590
|
1.000 |
0.160 |
X |
21737698 |
splice acceptor variant |
C/T
|
snv
|
|
|
DEAFNESS, X-LINKED 4 (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2011 |
2011 |