Table 1.
Pathogenic variants detected among the 35 families analyzed in the study and the number of family members
| Family | APC Mutations | N |
|---|---|---|
| 1 | p.Gln1062*(c.3183_3187delACAAA) | 11 |
| 2 | p.Arg213Ter(c.637C>T) | 11 |
| 3 | p.Glu1309Aspfs*4(c.3927_3931delAAAGA) | 5 |
| 4 | p.Tyr1179Ter(c.3537_3543delTAGTTTA) | 1 |
| 5 | p.Arg302Ter(c.904C>T) | 4 |
| 6 | p.Gln1041Ter(c.3121C>T) | 2 |
| 7 | p.Asp849Glufs*11(c.2547_2550delTAGA) | 1 |
| 8 | p.Ser1104Glufs*20(c.3310_3316delTCACGGG) | 2 |
| 9 | p.Tyr986Ter(c.2958T>G) | 13 |
| 10 | p.Arg283Ter(c.847C>T) | 1 |
| 11 | p.Arg302Ter(c.904C>T) | 5 |
| 12 |
p.Glu578Ter(c.1732G>T) Deletion of exon 15 |
3 |
| 13 | p.Tyr1166Ter(c.3498T>A) | 1 |
| 14 | p.Asn1017Metfs*4(c.3050_3053delATGA) | 1 |
| 15 | p.Arg805Ter(c.2413C>T) | 2 |
| 16 | p.Gln1062*(c.3183_3187delACAAA) | 1 |
| 17 | Heterozygous deletion of exons 1 to 15 | 1 |
| 18 | p.Glu1309Aspfs*4(c.3927_3931delAAAGA) | 1 |
| 19 | p.Arg302Ter(c.904C>T) | 2 |
| 20 | p.Gln1328Ter(c.3982C>T) | 1 |
| 21 | p.Arg283Ter(c.847C>T) | 2 |
| 22 | p.Arg554Ter(c.1660C>T) | 1 |
| 23 | p.Met720Trpfs*7(c.2157delT) | 2 |
| 24 | p.Arg302Ter(c.904C>T) | 3 |
| 25 | p.Gln1062*(c.3183_3187delACAAA) | 1 |
| 26 | p.Glu1309Aspfs*4(c.3927_3931delAAAGA) | 2 |
| 27 | p.Gln1260Tyrfs*6(c.3776_3777dupTA) | 4 |
| 28 | p.Ser713Ter(c.2138C>G) | 3 |
| 29 | p.Gln1062*(c.3183_3187delACAAA) | 2 |
| 30 | p.Arg232Ter(c.694C>T) | 1 |
| 31 | p.Gln541Thrfs*19(c.1620dupA) | 4 |
| 32 | c.1958+3A>G | 1 |
| 33 | p.Arg232Ter(c.694C>T) | 2 |
| 34 | p.Ile1060Ter(c.3178delA) | 1 |
| 35 | p.Glu287Alafs*2(c.856_859dupCATG) | 1 |
| Total | 99 |
N, number of individuals.