Gene | Location | Nucleotide change | Protein effect | Families with the variant |
---|---|---|---|---|
MLH1 | Intron 6 | c.545+72T > A | N.A | 2 |
 | Exon 8 | c.655A > G | p.Ile219Val | 12* |
 | Intron 14 | c.1668-19A > G | N.A | 6* |
MSH2 | Intron 1 | c.211+8G > C | N.A | 2 |
 | Intron 1 | c.211+9C > G | N.A | 4 |
 | Intron 3 | c.646-46delC | N.A | 1 |
 | Exon 6 | c.965G > A | p.Gly322Asp | 6 |
 | Intron 10 | c.1661+12G > A | N.A | 14* |
 | Intron 12 | c.2006-6T > C | N.A | 9* |
MSH6 | Intron 1 | c.261-36 A > G | N.A. | 2 |
 | Exon 1 | c.116 G > A | p.Gly39Glu | 2 |
 | Exon 1 | c.186 C > A | p. Arg62Arg | 2* |
 | Exon 2 | c.276 A > G | p.Pro92Pro | 4* |
 | Exon 3 | c.540 T > C | p.Asp180Asp | 4* |
 | Intron 4 | c.3173-101 C > G | N.A. | 1 |
 | Exon 5 | c.3438+14 A > T | N.A. | 8* |
 | Intron 7 | c.3646+29_3646+32delCTAT | N.A. | 3* |
 | Intron 8 | c.3802-40 C > G | N.A. | 8* |
 | Exon 8 | c.3678 A > G | p.Ala1226Ala | 1 |