APC mutations found in Finnish familial adenomatous polyposis kindreds
| Family ID | Mutation description | Mutation type | Codon number | Coding change |
|---|---|---|---|---|
| The number of individuals with clinical data available is shown in parentheses after the family ID number. | ||||
| *Mutations not previously included in the human genome mutation database (January 2001). | ||||
| F53 (4) | ATgtaagta→ATataagta* | Splicing | Ex 4 SD +1 | Deletion of ex 4 and frameshift |
| F13 (2) | ATgtaagta→ATgtaacta* | Splicing | Ex 4 SD +5 | Deletion of ex 4 and frameshift |
| F35 (1) | CAA→TAA* | Nonsense | 188 (ex 5) | Gln→stop |
| F6 (5) | AAGCAaGGCA* | Deletion | 193 (ex 5) | Frameshift |
| F17 (2), F30 (2) | CGA→TGA | Nonsense | 216 (ex 6) | Arg→stop |
| F21 (5) | GAA→TAA* | Nonsense | 225 (ex 6) | Glu→stop |
| F15 (9) | ATACTtCGT* | Deletion | 229 (ex 6) | Frameshift |
| F68 (1) | CGA→TGA | Nonsense | 232 (ex 6) | Arg→stop |
| F8 (4) | CAGtcccaagcaaCAGAA* | Deletion | 236-240 (exon 6) | Frameshift |
| F1 (4) | CAG→TAG | Nonsense | 247 (ex 7) | Gln→stop |
| F43 (1), F51 (1) | CGA→TGA | Nonsense | 283 (ex 8) | Arg→stop |
| F64 (4) | TTG→TAG* | Nonsense | 292 (ex 8) | Leu→stop |
| F87 (4) | TACTGT→TACCTGT | Insertion | 417 (ex 9) | Frameshift |
| F46 (4) | GGGGAGACTACA* | Insertion | 471 (ex 11) | Frameshift |
| F24 (3) | CGA→TGA | Nonsense | 499 (ex 11) | Arg→stop |
| F18 (3) | CCCAAgGCATCT* | Deletion | 782 | Frameshift |
| F47 (2) | TCTGAAAaaGA* | Deletion | 848 | Frameshift |
| F28 (1), F32 (1) | CGA→TGA | Nonsense | 876 | Arg→stop |
| F52 (2) | GGTTtGCAGA* | Deletion | 878 | Frameshift |
| F89 (2) | GAA→TAA* | Nonsense | 892 | Glu→stop |
| F66 (1) | TCA→TGA | Nonsense | 932 | Ser→stop |
| F62 (4) | GTAAAAGagGTCAA* | Deletion | 976 | Frameshift |
| F94 (1) | TGG→TAG* | Nonsense | 1049 | Trp→stop |
| F55 (4), F65 (9) F95 (5) | GATGaaataAAACAA* | Deletion | 1059 | Frameshift |
| F7 (3), F61 (2) | GAAATAAAacaaaGT | Deletion | 1061 | Frameshift |
| F40 (2) | TCA→TGA* | Nonsense | 1068 | Ser→stop |
| F25 (1) | GATGACTA→GATGGA TGACTA* | Insertion | 1134 | Frameshift |
| F81 (4) | GAAGAAGaGAGAC* | Deletion | 1157 | Frameshift |
| F86 (3) | CGTCAT=> CGTCAAT* | Insertion | 1172 | Frameshift |
| F84 (2) | CACAGAGtAGAAGT* | Deletion | 1238 | Frameshift |
| F26 (7) | GCTGCC→GCTTGCC* | Insertion | 1247 | Frameshift |
| F37 (5), F44 (1), F76 (2), F82 (1) | AATAAAAGAaaagaTT | Deletion | 1309 | Frameshift |
| F33 (3) | GAG→TAG* | Nonsense | 1398 | Glu→stop |
| F27 (1) | CAG→TAG* | Nonsense | 1407 | Gln→stop |
| F34 (1) | AAGAGAgagaGTGG | Deletion | 1465 | Frameshift |
| F54 (2) | AGAGAGagTGGACCT | Deletion | 1466 | Frameshift |
| F10 (7) | TCA→TGA* | Nonsense | 1546 | Ser→stop |
| F80 (2) | TCAAAtgaaaACCAAG | Deletion | 1547 | Frameshift |