Fam 1 | MLH1 exon 17 | CGA to CTA | R659L (aberrant splicing)† | Positive charged to aliphatic | Yes | 0/50 | Yes | Loss of function ref26 | High (2/5) | Abnormal |
Fam 2 | MLH1 exon 16 | CTT to CAT |
L607H
| Neutral to charged | No | 0/50 | Yes | NA | Stable (0/5) | Normal |
Fam 3 | MLH1 exon 8 | GTG to ATG |
V213M
| Non-polar to non-polar | No | 0/50 | Inconclusive‡ | NA | Stable (0/5) | Normal |
Fam 4 | MLH1 exon 16 | AAG to ACG | K618T | Positive charged to non-polar | No | 0/50 | Inconclusive‡ | Loss of function13151627 | Stable (0/5) | Normal |
Fam 5* | MSH2 exon 6 | GGC to GAC | G322D | Non-polar to negative charged | Yes | 0/50 | No | NA | High (5/5) | Abnormal |
Fam 6 | MLH1 exon 12A | CGT to TGT |
R385C
| Polar to non-polar | No | 0/50 | Yes | NA | NA | NA |
P 1 | MLH1 exon 16 | AAG to ACG | K618T | Positive charged to non-polar | No | 0/50 | Not possible§ | Loss of function13151627 | Stable (0/5) | Normal |
P 2 | MLH1 exon 17 | CCC to TCC |
P648S
| Non-polar to polar | No | 3/50 | Not possible§ | NA | High (2/5) | Abnormal |
P 3 | MSH2 exon 6 | GGC to GAC | G322D | Non-polar to negative charged | Yes | 0/50 | Not possible§ | NA | Stable (0/5) | Normal |
P 4 | MSH2 intron 7 | AAG to CGG | — | — | — | 0/50 | Inconclusive‡ | NA | High (4/5) | Abnormal |