rs1057517118
|
|
|
5 |
119499315 |
splice acceptor variant |
A/C
|
snv
|
|
|
Bifunctional peroxisomal enzyme deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1057517152
|
|
|
5 |
119531344 |
frameshift variant |
GTAAA/-
|
delins
|
|
|
Bifunctional peroxisomal enzyme deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1057517323
|
1.000 |
0.280 |
5 |
119525970 |
frameshift variant |
-/GTGT
|
delins
|
|
2.1E-05
|
Bifunctional peroxisomal enzyme deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1057517323
|
1.000 |
0.280 |
5 |
119525970 |
frameshift variant |
-/GTGT
|
delins
|
|
2.1E-05
|
PERRAULT SYNDROME 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1171426785
|
|
|
5 |
119478832 |
splice acceptor variant |
A/G;T
|
snv
|
|
7.0E-06
|
Bifunctional peroxisomal enzyme deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1224475289
|
|
|
5 |
119473907 |
splice acceptor variant |
G/A;T
|
snv
|
4.0E-06
|
|
Bifunctional peroxisomal enzyme deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1231357043
|
|
|
5 |
119474017 |
splice donor variant |
T/C
|
snv
|
|
|
Bifunctional peroxisomal enzyme deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1276397342
|
|
|
5 |
119474447 |
frameshift variant |
T/-
|
delins
|
|
7.0E-06
|
Bifunctional peroxisomal enzyme deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1554059509
|
|
|
5 |
119452630 |
splice donor variant |
CAGGTG/-
|
delins
|
|
|
Bifunctional peroxisomal enzyme deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1554062168
|
|
|
5 |
119474400 |
splice acceptor variant |
G/C
|
snv
|
|
|
Bifunctional peroxisomal enzyme deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1554062343
|
|
|
5 |
119475704 |
splice acceptor variant |
A/G
|
snv
|
|
|
Bifunctional peroxisomal enzyme deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1554064083
|
|
|
5 |
119489191 |
splice acceptor variant |
G/A;T
|
snv
|
|
|
Bifunctional peroxisomal enzyme deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1554065254
|
|
|
5 |
119499315 |
splice donor variant |
CTGGAGCTATTGGCCAGAAACTCCCTCCATTTTCTTATGCTTATACGGAACTGGAAGCTATTATGTATGCCCTTGGAGTGGGAGCGTCAATCAAGGATCCAAAAGATTTGAAATTTATTTATGAAGGAAGTTCTGATTTCTCCTGTTTGCCCACCTTCGGAGTTATCATAGGTCAGAAATCTATGATGGGTGGAGGATTAGCAGAAATTCCTGGACTTTCAATCAACTTTGCAAAGG/-
|
delins
|
|
|
Bifunctional peroxisomal enzyme deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1554065670
|
|
|
5 |
119502039 |
splice donor variant |
TCTTCATGGAGAGCAGTACTTAGAGTTATATAAACCACTTCCCAGAGCAGGT/-
|
delins
|
|
|
Bifunctional peroxisomal enzyme deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1554065671
|
|
|
5 |
119502040 |
splice acceptor variant |
G/A
|
snv
|
|
|
Bifunctional peroxisomal enzyme deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1554066421
|
|
|
5 |
119509139 |
splice acceptor variant |
A/T
|
snv
|
|
|
Bifunctional peroxisomal enzyme deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1554068134
|
|
|
5 |
119525214 |
splice acceptor variant |
A/C
|
snv
|
|
|
Bifunctional peroxisomal enzyme deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1554068426
|
|
|
5 |
119527199 |
frameshift variant |
GA/-
|
delins
|
|
|
Bifunctional peroxisomal enzyme deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1554068960
|
|
|
5 |
119531406 |
splice donor variant |
T/G
|
snv
|
|
|
Bifunctional peroxisomal enzyme deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1554069592
|
|
|
5 |
119536421 |
splice acceptor variant |
A/G
|
snv
|
|
|
Bifunctional peroxisomal enzyme deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1554069610
|
|
|
5 |
119536551 |
splice donor variant |
G/C
|
snv
|
|
|
Bifunctional peroxisomal enzyme deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1561485663
|
1.000 |
0.280 |
5 |
119525918 |
frameshift variant |
T/-
|
delins
|
|
|
Bifunctional peroxisomal enzyme deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1561485663
|
1.000 |
0.280 |
5 |
119525918 |
frameshift variant |
T/-
|
delins
|
|
|
PERRAULT SYNDROME 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs25640
|
|
|
5 |
119475838 |
missense variant |
G/A;C
|
snv
|
0.45
|
|
Bifunctional peroxisomal enzyme deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
|
0 |
|
|
rs587777443
|
1.000 |
0.280 |
5 |
119525259 |
missense variant |
T/C
|
snv
|
|
7.0E-06
|
PERRAULT SYNDROME 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|