From: The role of MLH1, MSH2 and MSH6 in the development of colorectal cancer in Uganda
No. | dbSNP.ID | HGVS.c | HGVS.p | Clinical significance | No. of cases with mutations |
---|---|---|---|---|---|
1 | rs112445441 | c.38G > A | p.Gly13Asp | Pathogenic | 1 |
2 | rs121913529 | c.35G > A | p.Gly12Asp | Pathogenic | 2 |
3 | rs121913530 | c.34G > A | p.Gly12Ser | Pathogenic | 2 |
4 | rs17851045 | c.183 A > C | p.Gln61His | Pathogenic | 1 |
5 | - | c.129 A > G | p.Gln43Gln | Benign | 1 |
6 | rs202247812 | c.347 A > G | p.Asn116Ser | Pathogenic | 2 |