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Table 2 Variants in the LS patients and frequency of each variant in Asian population

From: Comparison of long-term outcomes between Lynch sydrome and sporadic colorectal cancer: a propensity score matching analysis

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
  1. LS Lynch syndrome
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