rs868816467
|
1.000 |
0.200 |
2 |
26191313 |
frameshift variant |
-/GTTT
|
delins
|
|
3.5E-05
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2002 |
2011 |
rs1553311645
|
1.000 |
0.200 |
2 |
26191314 |
frameshift variant |
GT/-
|
delins
|
|
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553311647
|
1.000 |
0.200 |
2 |
26191320 |
frameshift variant |
C/-
|
delins
|
|
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs142120825
|
1.000 |
0.200 |
2 |
26191322 |
stop gained |
A/C;G;T
|
snv
|
8.0E-06;
8.0E-06
|
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1057516350
|
1.000 |
0.200 |
2 |
26191481 |
splice donor variant |
A/G
|
snv
|
|
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs794727219
|
1.000 |
0.200 |
2 |
26191482 |
splice donor variant |
C/T
|
snv
|
|
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1057517132
|
1.000 |
0.200 |
2 |
26191558 |
stop gained |
C/A
|
snv
|
|
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553311706
|
1.000 |
0.200 |
2 |
26191570 |
frameshift variant |
T/-
|
del
|
|
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553311716
|
1.000 |
0.200 |
2 |
26191603 |
frameshift variant |
G/-
|
delins
|
|
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1167218743
|
0.925 |
0.200 |
2 |
26192309 |
splice donor variant |
C/A;G
|
snv
|
|
7.0E-06
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs779113356
|
0.925 |
0.200 |
2 |
26192343 |
frameshift variant |
A/-
|
delins
|
4.0E-06
|
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs1553311804
|
1.000 |
0.200 |
2 |
26192350 |
frameshift variant |
-/A
|
delins
|
|
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1057517397
|
1.000 |
0.200 |
2 |
26192392 |
frameshift variant |
AGAT/-
|
delins
|
|
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553312033
|
1.000 |
0.200 |
2 |
26193647 |
frameshift variant |
TT/-
|
delins
|
|
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs747985669
|
1.000 |
0.200 |
2 |
26193651 |
frameshift variant |
C/-
|
delins
|
|
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs769580842
|
0.925 |
0.200 |
2 |
26193668 |
frameshift variant |
AT/-
|
del
|
|
3.5E-05
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2002 |
2018 |
rs1057516217
|
1.000 |
0.200 |
2 |
26193774 |
splice acceptor variant |
T/C
|
snv
|
|
1.4E-05
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs137852771
|
0.925 |
0.200 |
2 |
26194581 |
stop gained |
G/A
|
snv
|
2.4E-05
|
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
1996 |
2016 |
rs764557236
|
1.000 |
0.200 |
2 |
26195086 |
splice donor variant |
CCTTA/-
|
delins
|
1.6E-05
|
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
1999 |
1999 |
rs1057516991
|
1.000 |
0.200 |
2 |
26195122 |
frameshift variant |
G/-
|
del
|
4.0E-06
|
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs137852769
|
0.827 |
0.280 |
2 |
26195184 |
missense variant |
C/G
|
snv
|
1.2E-03
|
1.0E-03
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.890 |
1.000 |
17 |
1994 |
2017 |
rs1290945516
|
1.000 |
0.200 |
2 |
26197690 |
splice donor variant |
C/A
|
snv
|
4.0E-06
|
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1057516734
|
1.000 |
0.200 |
2 |
26201196 |
frameshift variant |
CA/-
|
delins
|
|
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1057516461
|
1.000 |
0.200 |
2 |
26201304 |
stop gained |
T/A
|
snv
|
8.0E-06
|
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1057516233
|
1.000 |
0.200 |
2 |
26201321 |
splice acceptor variant |
C/G
|
snv
|
|
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|