Table 1.
Identified germline variants and clinical data of probands.
| Family (Proband) | Nucleotide Change 1 | AA Change | Type of Variant | Age of Diagnosis | Polyposis | CRC | Ref. |
|---|---|---|---|---|---|---|---|
| J751 | c.1433T>G | p.L478* | Nonsense | 46 | <100 | + | [14] |
| H803 | c.1586_1587insAT | p.V530Lfs*5 | Frameshift | 44 | Carpeted polyposis | + | novel |
| TA121 | c.2336delT | p.L779* | Frameshift | 33 | Carpeted polyposis | - | novel |
| S350 | c.3066_3067insGA | p.T1023Efs*4 | Frameshift | 33 | Carpeted polyposis | + | novel |
| 67 | c.3942delG | p.R1314Sfs*7 | Frameshift | 39 | Carpeted polyposis | + | [6] |
| T820 | c.4303_4304insC | p.R1435Tfs*3 | Frameshift | 31 | Carpeted polyposis | + | novel |
| TC240 | c.4393_4394delAG | S1465Wfs*3 | Frameshift | 30 | Diffuse polyposis | + | [13] |
| TA698 | c.4826delC | p.P1609Qfs*41 | Frameshift | 55 | <100 | - | [18] |
1 LRG_130t1.