rs1555441861
|
1.000 |
0.120 |
15 |
80175060 |
frameshift variant |
-/T
|
delins
|
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555441852
|
1.000 |
0.120 |
15 |
80175022 |
frameshift variant |
-/TGGCCCCTGCC
|
delins
|
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs786204551
|
1.000 |
0.120 |
15 |
80186139 |
frameshift variant |
A/-
|
del
|
|
1.4E-05
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1999 |
2011 |
rs370634385
|
1.000 |
0.120 |
15 |
80175058 |
missense variant |
A/C
|
snv
|
1.6E-05
|
2.8E-05
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
14 |
1992 |
2009 |
rs1555442289
|
1.000 |
0.120 |
15 |
80180122 |
splice acceptor variant |
A/C
|
snv
|
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121965077
|
1.000 |
0.120 |
15 |
80181120 |
missense variant |
A/G
|
snv
|
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
14 |
1992 |
2009 |
rs121965078
|
0.925 |
0.120 |
15 |
80173143 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
14 |
1992 |
2009 |
rs1057517972
|
1.000 |
0.120 |
15 |
80153055 |
start lost |
A/G
|
snv
|
8.0E-06
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2005 |
2013 |
rs1555440522
|
1.000 |
0.120 |
15 |
80159754 |
splice acceptor variant |
A/G
|
snv
|
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555440603
|
1.000 |
0.120 |
15 |
80160408 |
splice acceptor variant |
A/G
|
snv
|
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555441251
|
1.000 |
0.120 |
15 |
80168050 |
splice acceptor variant |
A/G
|
snv
|
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555442385
|
1.000 |
0.120 |
15 |
80181040 |
splice acceptor variant |
A/G
|
snv
|
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121965073
|
1.000 |
0.120 |
15 |
80153101 |
missense variant |
A/G;T
|
snv
|
8.0E-06;
2.8E-05
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
14 |
1992 |
2009 |
rs80338897
|
1.000 |
0.120 |
15 |
80172240 |
missense variant |
A/T
|
snv
|
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
14 |
1992 |
2009 |
rs1057516684
|
1.000 |
0.120 |
15 |
80168056 |
frameshift variant |
ACTTACCAGTGGGCTACCATGGCCGTGCCTC/-
|
delins
|
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555441703
|
1.000 |
0.120 |
15 |
80173142 |
frameshift variant |
C/-
|
del
|
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs1057517113
|
1.000 |
0.120 |
15 |
80168087 |
frameshift variant |
C/-
|
delins
|
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517341
|
1.000 |
0.120 |
15 |
80153066 |
frameshift variant |
C/-
|
delins
|
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121965074
|
0.882 |
0.120 |
15 |
80162282 |
missense variant |
C/A
|
snv
|
4.0E-06
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
16 |
1992 |
2009 |
rs886044640
|
1.000 |
0.120 |
15 |
80180126 |
stop gained |
C/A
|
snv
|
|
7.0E-06
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs533540262
|
1.000 |
0.120 |
15 |
80172238 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
1.6E-05
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs80338898
|
1.000 |
0.120 |
15 |
80173089 |
missense variant |
C/T
|
snv
|
1.7E-04
|
5.6E-05
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
18 |
1992 |
2013 |
rs779040832
|
1.000 |
0.120 |
15 |
80180188 |
missense variant |
C/T
|
snv
|
1.6E-05;
4.5E-05
|
7.0E-06
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1992 |
2009 |
rs781496816
|
1.000 |
0.120 |
15 |
80168116 |
stop gained |
C/T
|
snv
|
4.0E-06
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1996 |
2012 |
rs769550316
|
1.000 |
0.120 |
15 |
80173016 |
stop gained |
C/T
|
snv
|
1.2E-05
|
2.1E-05
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.710 |
1.000 |
2 |
1996 |
2012 |