rs587777436
|
1.000 |
0.160 |
X |
48905271 |
missense variant |
G/A
|
snv
|
|
|
Solute carrier family 35 member A2 congenital disorder of glycosylation
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
2 |
2013 |
2013 |
rs587776961
|
1.000 |
0.160 |
X |
48904918 |
missense variant |
C/T
|
snv
|
|
|
Solute carrier family 35 member A2 congenital disorder of glycosylation
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2013 |
2013 |
rs1557043622
|
0.695 |
0.400 |
X |
48909843 |
missense variant |
C/A
|
snv
|
|
|
Solute carrier family 35 member A2 congenital disorder of glycosylation
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1557044030
|
1.000 |
0.160 |
X |
48911498 |
splice donor variant |
GATCCCGACCTCCGCCTCCCATGCGACTGCTCGGGCAGACTGTCTCACCCGCACTGGCGGTCCCCGGCTCCAATGCACCCGCGGAAACCGCCCCTGGCCCGGGCGCCGCGGTGGAACCACCAGCC/T
|
delins
|
|
|
Solute carrier family 35 member A2 congenital disorder of glycosylation
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs587776962
|
1.000 |
0.160 |
X |
48911634 |
start lost |
C/T
|
snv
|
|
|
Solute carrier family 35 member A2 congenital disorder of glycosylation
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1057518719
|
1.000 |
0.160 |
X |
48905289 |
frameshift variant |
ACGA/-
|
del
|
|
|
Solute carrier family 35 member A2 congenital disorder of glycosylation
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1557042824
|
1.000 |
0.160 |
X |
48905134 |
splice acceptor variant |
CGGCGGTACCCTCAGCCCACCAGAGCCCCACCAGGCCCAGTGCTGTGCCGAAGAGGCCCAGTTGCAGGTTGCGCAGCCACACGGAGCCTGAGCTGCCTTTGAGGATCTTCTCAAAGTAGACACCTGCGAAGCCGGAGGAGAGACAGGAGGCCACGACGGCTGCCAGGCCTGCCCCAGGGTTCTGATCCAGTGGCCGTGGGCCTCCCCCACCGGCTTGCTGTGCCTGGACAATGGCGACGCCAGTGAAGAGGAGCAGCAGGGAGGCCCACTGCAGCCGGGAAAGGCTGCGATTCAGCATGAGCACGGAGAACAGCGCTGTGGTCAGGATCTTCAGCTGGTATGTCACCTGCGAGTGGCACGTGGAAGGCACTGAGGGCTGACCCTGGCCCCCAACAGGTGCACATGGGGGGCAGCACCCACTGTGGGCCCCCAGGCACAATGGAGGGACAGGGTGGGGGGTATGACAGCAAAAACAGCAAAAGGAGCCAGCCACTGGCCATTGGCTGAGCTGCAGCAAAACAGTTCTGAAGTCTCTCCCAGCAAGTGCACAAAAGGATGGCTGTGCCAAGAAGTCCACATCCCAATCCCATTTCCTGGCTGTGTGACTGGGGACAAAGCACTTGCCCTGTCTGAGCCCTGGCATCATCATCTATAAAAGATGGCTGAGGTATGGAAGTATCTTTGTGATGAGGGACTTGATACAAATGAATCAATAGCCACAACAATGTCAGCAAATACTTACATAGTGCTTACAATATATCAGTGTGGTTCTAGGCACTGCACGTGAATTCATTCATTTAATTCTCACAACACCATTCTGAAGTGAGCACCACTGTAAGCCCCAATTTAAAGGTGAGAAAACTAAGGCACAGAGAGGTTAGGTGACGTGCCCCAAAATCACACAGCTGGAAGGTAGCAGAGCTGAGATTTGAACCCAGACAGCCTGGCCCCAGAATCCAGGCTCTTTAACCA/-
|
delins
|
|
|
Solute carrier family 35 member A2 congenital disorder of glycosylation
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1557043131
|
1.000 |
0.160 |
X |
48906470 |
frameshift variant |
T/-
|
del
|
|
|
Solute carrier family 35 member A2 congenital disorder of glycosylation
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569511572
|
1.000 |
0.160 |
X |
48909855 |
missense variant |
T/C
|
snv
|
|
|
Solute carrier family 35 member A2 congenital disorder of glycosylation
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587777434
|
1.000 |
0.160 |
X |
48905475 |
frameshift variant |
AT/-
|
delins
|
|
|
Solute carrier family 35 member A2 congenital disorder of glycosylation
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587777435
|
1.000 |
0.160 |
X |
48904937 |
frameshift variant |
A/-
|
delins
|
|
|
Solute carrier family 35 member A2 congenital disorder of glycosylation
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs869312860
|
1.000 |
0.160 |
X |
48905109 |
missense variant |
T/C
|
snv
|
|
|
Solute carrier family 35 member A2 congenital disorder of glycosylation
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|