Germline mutations of the STK11/LKB1 gene
| Ped No | Exon | Nucleotide change | Amino acid consequence | Biallelic expression | Two point lod score |
| 9 | Y | +0.30 | |||
| 69 | 5 | 725G>A | G242V | − | |
| 1183-150 | 1 | 200T>G | L67R | − | |
| 128 | 5 | 666del | 222FS | − | |
| 199 | Y | −2.40 | |||
| 2293-150 | 7 | 908del9 | 303del3 | − | |
| 232 | Y | ||||
| 277 | 1 | 180C>G | Y60X | − | |
| 418 | 1 | 169del | 57FS | − | |
| 419 | 2 | 354C>A | Y118X | − | |
| 442 | 5 | IVS5+1g>a | |||
| 494 | Y | +1.02 | |||
| 571 | Y | +0.84 | |||
| 622 | 3 | 407T>G | M136R | − | |
| 626 | 6 | 789del4 | 263FS | − | |
| 687 | 1 | 153del3 | 52del | − | |
| 749 | 6 | 753del | 251FS | − | |
| 795 | Y | +1.50 | |||
| 842 | Y | −2.42 | |||
| 919 | 5 | 636del5 | 212FS | − | |
| 1002 | 8 | 957del2insT | 319FS | − | |
| 1216 | 2 | 350insTTTG | 117FS | − | |
| 1475 | 5 | 724G>T | G242W | − | |
| 2191 | 1 | IVS1+1g>a | |||
| 2234 | 5 | IVS4-2a>t | |||
| 2295 | 6 | 841del | 281FS | − | |
| 2472 | 4 | IVS3-2a>g | |||
| 2494 | 3 | 396C>A | C132X | − | |
| 2653 | 6 | IVS5-1g>a | |||
| 2708 | 6 | 744del | 248FS | − | |
| 2733 | 4 | 545T>C | L182P | − |
↵3-150 Previously reported by Hemminki et al.1