Mutations defined as mosaic during exon scanning using blood DNA
| Patient | Location | Sequence change* | Identification [references] |
|---|---|---|---|
| *Nucleotide positions are numbered according to the cDNA sequence with the first nucleotide of the ATG initiation codon as 1. Mechanism of mutation identification is followed by reference number if previously reported. Putative effect of sequence change is given as SP=splice site alteration, FS=frameshift, NS=nonsense. | |||
| 20781 | Exon 1 | 113A>T (SP) | Direct sequencing [9] |
| 39 | Exon 2 | 137-144del8bp (FS) | Cloning (3 out of 20 clones) [13] |
| 150 | Exon 4 | 431ins1bp (FS) | Analysis of heteroduplex from TGGE gel [13] |
| 41 | Exon 6 | 527del2bp (FS) | Analysis of heteroduplex from TGGE gel |
| 196 | Exon 8 | 784C>T (NS) | Analysis of heteroduplex from TGGE gel [13] |
| 147 | Exon 8 | 784C>T (NS) | Analysis of heteroduplex from TGGE gel [13] |
| 28941 | Exon 11 | 1021C>T (NS) | Direct sequencing |
| 18773 | Exon 11 | 1027del2bp (FS) | Cloning [18] |
| 629 | Exon 12 | 1228C>T (NS) | Cloning (1 out of 20 clones) |
| 29230 | Exon 13 | 1393G>T (NS) | Direct sequencing of tumour material |