Position
| |
Source of DNA
|
Base change
|
Amino acid change
|
Exon 0.1 | nt 26 | Unaffected 5 | Heterozygous C→G | |
Exon 0.1 | nt 26 | Unaffected 10 | Homozygous C→G | |
| nt 90 | | Heterozygous G→T | |
Exon 0.1 | nt 26 | Unaffected 11 | Heterozygous C→G | |
Exon 0.1 | nt 50 | Unaffected 14 | Heterozygous C→T | |
Exon 0.1 | nt 26 | Unaffected 15 | Homozygous C→G | |
Exon 0.1 | nt 26 | Unaffected 16 | Homozygous C→G | |
Exon 0.1 | nt 26 | Unaffected 17 | Heterozygous C→G | |
Exon 0.1 | nt 26 | Unaffected 37 | Homozygous C→G | |
| nt 17 | | Heterozygous G→A | |
Exon 0.1 | nt 26 | Glioblastoma 93445 | Heterozygous C→G | |
Exon 0.1 | nt 26 | Medulloblastoma 1835 | Heterozygous C→G | |
Exon 0.1 | nt 26 | Medulloblastoma 1833 | Heterozygous C→G | |
Exon 0.1 | nt 26 | SW1088 (astrocytoma) | Heterozygous C→G | |
Exon 0.1 | nt 34 | Glioblastoma 93133 | Heterozygous addition of G | |
Exon 0.1 | nt 34 | Medulloblastoma 1838 | Heterozygous addition of G | |
Exon 0.2 | nt 38 | Medulloblastoma 1833 | Heterozygous T→G | |
Exon 0.2 | nt 38 | Medulloblastoma 1837 | Homozygous T→G | |
Exon 0.2 | nt 38 | SW1088 (astrocytoma) | Homozygous T→G | |
Exon 0.3 | nt 148 | SW1088 (astrocytoma) | Heterozygous G→A | Cys→Tyr |
Exon 15 | nt 4326 | Medulloblastoma 1836 | Heterozygous T→A | |
Exon 15 | nt 3460 | Medulloblastoma 1840 | Heterozygous 3 bp deletion | Loss of Glu |
Exon 15 | nt 4326 | Medulloblastoma 1843 | Heterozygous T→A | |
Exon 15 | nt 4326 | Medulloblastoma 1847 | Heterozygous T→A | |
Exon 15 | nt 3188 | APC medulloblastoma | Heterozygous GTGA deletion | Stop at nt 3373 |
| nt 3187 | | Heterozygous A deletion | Stop at nt 3373 |