Exon | Mutation | WT | MT | Pos (bp) | Predicted size | Family |
---|---|---|---|---|---|---|
Pos, position. The reference sequence used was NM_000384, with the A of the ATG translation initiation codon numbered nucleotide +1 and the methionine numbered as amino acid −27. | ||||||
10 | R412X17 | CGA | TGA | 1315 | APOB-9 | SP809 |
11 | R463W18 | CGG | TGG | 1468 | NA | SP810 |
13 | 1718delAT | AT | delAT | 1718 | APOB-12 | SP807 |
17 | 2534delA | A | delA | 2534 | APOB-18 | NL804 |
18 | 2783delC | C | delC | 2783 | APOB-20 | NL826, NL827 |
25 | Q1309X | CAA | TAA | 4006 | APOB-29 | NL808, NL822 |
26 | R2507X | CGA | TGA | 7600 | APOB-55 | NL809, SP812 |
26 | 11548delTT | TT | delTT | 11548 | APOB-84 | NL825 |
26 | 11712delC19 | C | delC | 11712 | APOB-86 | NL801, NL802, NL806 |