rs1555750580
|
1.000 |
0.120 |
19 |
12896294 |
frameshift variant |
-/CGGG
|
delins
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs869025300
|
1.000 |
0.120 |
19 |
12896355 |
stop gained |
-/CTATGATCATC
|
delins
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1568429257
|
1.000 |
0.120 |
19 |
12897787 |
frameshift variant |
-/T
|
ins
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555750542
|
1.000 |
0.120 |
19 |
12896213 |
frameshift variant |
-/TCGC
|
delins
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1555749369
|
1.000 |
0.120 |
19 |
12892114 |
splice acceptor variant |
A/C
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs878853154
|
1.000 |
0.120 |
19 |
12893579 |
missense variant |
A/C
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs199999619
|
1.000 |
0.120 |
19 |
12899466 |
splice acceptor variant |
A/C;G
|
snv
|
8.8E-05
|
2.8E-05
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
8 |
2000 |
2019 |
rs745357523
|
1.000 |
0.120 |
19 |
12896365 |
missense variant |
A/C;G
|
snv
|
4.0E-06
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1995 |
2014 |
rs1197426645
|
1.000 |
0.120 |
19 |
12891305 |
start lost |
A/C;G
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs771924230
|
1.000 |
0.120 |
19 |
12897734 |
missense variant |
A/C;G
|
snv
|
8.0E-06
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1282266790
|
1.000 |
0.120 |
19 |
12897794 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1995 |
2014 |
rs141437721
|
1.000 |
0.120 |
19 |
12897833 |
missense variant |
A/G
|
snv
|
6.0E-05;
1.6E-05
|
1.7E-04
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.710 |
1.000 |
5 |
2007 |
2016 |
rs1555751995
|
1.000 |
0.120 |
19 |
12899541 |
stop lost |
A/G
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2000 |
2010 |
rs1057517410
|
1.000 |
0.120 |
19 |
12896908 |
splice acceptor variant |
A/G
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1176799813
|
1.000 |
0.120 |
19 |
12893627 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1294124984
|
1.000 |
0.120 |
19 |
12892140 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs897036690
|
1.000 |
0.120 |
19 |
12893560 |
missense variant |
A/G
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516521
|
1.000 |
0.120 |
19 |
12891921 |
frameshift variant |
C/-
|
delins
|
|
7.0E-06
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2002 |
2015 |
rs1057517407
|
1.000 |
0.120 |
19 |
12896930 |
frameshift variant |
C/-
|
del
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1057517088
|
1.000 |
0.120 |
19 |
12891901 |
frameshift variant |
C/-
|
del
|
|
7.0E-06
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs776082304
|
1.000 |
0.120 |
19 |
12897859 |
stop gained |
C/A;G;T
|
snv
|
4.0E-05
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1995 |
2010 |
rs142967670
|
1.000 |
0.120 |
19 |
12891965 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
4.8E-05
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
21 |
1995 |
2017 |
rs756345321
|
1.000 |
0.120 |
19 |
12896014 |
missense variant |
C/G
|
snv
|
4.0E-06
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs878853153
|
1.000 |
0.120 |
19 |
12893604 |
missense variant |
C/G
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs139851890
|
1.000 |
0.120 |
19 |
12893564 |
missense variant |
C/G;T
|
snv
|
1.6E-05
|
1.4E-05
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
11 |
1995 |
2014 |