Table 2 Variants in the LS patients and frequency of each variant in Asian population
Gene | Variants (HGVS) | Clinical Significance | Frequency |
|---|---|---|---|
MLH1 | NM_001167618.2(MLH1):c.-33del(p.Ile231fs) | Pathogenic | No data |
MLH1 | NM_000249.3(MLH1):c.1976G>C (p.Arg659Pro) | Pathogenic | 0.00002 |
MLH1 | NM_000249.3(MLH1):c.883A>G (p.Ser295Gly) | Pathogenic | No data |
MLH1 | NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) | Likely pathogenic | 0.00000 |
MLH1 | NM_000249.3(MLH1):c.979C>T (p.Gln327Ter) | Pathogenic | 0.0000 |
MLH1 | NM_000249.3(MLH1):c.1489_1490insCG(p.Arg497fs) | Pathogenic | No data |
MLH1 | NM_000249.3(MLH1):c.199G>C (p.Gly67Arg) | Pathogenic | 0.0000 |
MLH1 | NM_000249.3(MLH1):c.2101C>A (p.Gln701Lys) | Likely pathogenic | 0.00249 |
MLH1 | NM_001167618.2(MLH1):c.-131_-130GA(p.Glu199fs) | Pathogenic​ | No data |
MLH1 | NM_000249.3(MLH1):c.116+1G>A(5 prime UTR) | Likely pathogenic​ | No data |
MLH1 | NM_000249.3(MLH1):c.1990-2A>G | Pathogenic​ | No data |
MLH1 | NM_000249.3(MLH1):c.453+1G>T | Likely pathogenic​ | No data |
MLH1 | NM_000249.3(MLH1):c.250A>G (p.Lys84Glu) | Likely pathogenic​ | No data |
MSH2 | NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) | Pathogenic​ | No data |
MSH2 | NM_000251.2(MSH2):c.244A>T (p.Lys82Ter) | Pathogenic​ | No data |
MSH2 | NM_000251.2(MSH2):c.877A>G (p.Thr293Ala) | Likely pathogenic​ | 0.0000 |
MSH2 | NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) | Pathogenic​ | 0.0000 |
MSH2 | NM_000251.2(MSH2):c.1528C>T (p.Gln510Ter) | Pathogenic​ | No data |
MSH2 | NM_000251.2(MSH2):c.1963G>A (p.Val655Ile) | Likely pathogenic​ | 0.00012 |
MSH2 | NM_000251.2(MSH2):c.859G>T (p.Gly287Ter) | Pathogenic​ | No data |
MSH2 | NM_000251.2(MSH2):c.1077A>T (p.Arg359Ser) | Pathogenic | No data |
MSH2 | NM_000251.3(MSH2):c.1710 T>G (p.Tyr570Ter) | Pathogenic | No data |
MSH2 | NM_000251.2(MSH2):c.352dup (p.Tyr118fs) | Pathogenic | No data |
MSH2 | NM_000251.2(MSH2):c.1009C>T (p.Gln337Ter) | Pathogenic | No data |
MSH2 | NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) | Pathogenic | 0.0000 |
MSH2 | NM_000251.2(MSH2):c.1042C>T (p.Gln348Ter) | Pathogenic | No data |
MSH2 | NM_000251.2(MSH2):c.2021G>A (p.Gly674Asp) | Likely pathogenic​ | No data |
MSH6 | NM_000179.2(MSH6):c.3252dup (p.Thr1085fs) | Pathogenic | No data |
MSH6 | NM_000179.2(MSH6):c.718C>T (p.Arg240Ter) | Pathogenic | 0.0000 |
MSH6 | NM_000179.2(MSH6):c.2294dup (p.Cys765fs) | Pathogenic | No data |
MSH6 | NM_000179.2(MSH6):c.3515G>C (p.Arg1172Thr) | Pathogenic | No data |
MSH6 | NM_000179.3(MSH6):c.3202C>T (p.Arg1068*) | Pathogenic​ | No data |
MSH6 | NM_000179.2(MSH6):c.652A>T (p.Lys218Ter) | Pathogenic | 0.00000 |
MSH6 | NM_000251.2(MSH2):c.518 T>C (p.Leu173Pro) | Likely pathogenic​ | No data |
PMS2 | large intragenic in EXON9 | Pathogenic | No data |
PMS2 | NM_000535.7:c.2 T>G(p.Met1Arg) | Pathogenic​ | 0.000 |