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Table 2 MLH1 and MSH2 variants

From: The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population

Id Variant Amino acid change Identified in the present study Phylogeny Pathogenic status References
  MLH1      
23 c.307-29 C>A Intronic + - - -
24 c.350 C>T p.Thr117Met - Conserved Pathogen [11,50]
25 c.453+79 A>G Intronic + - - -
26 c.545+43 C>G Intronic + - - -
27 c.655 A>G p.Val219Ile + Ile other species Neutral [11,40,51]
28 c.790+10 A>G Intronic + - - -
29 c.884+39 G>A Intronic - - - -
30 c.884+83_84 ins T Intronic - - - -
85 c.1217 G>A p.Ser406Asn + Non-conserved Neutral [11,41,52]
31 c.1379 A>C p.Glu460Ala - Non-conserved - -
86* c.1558+11 G>A Intronic - - Neutral [53]
32 c.1558+14 G>A Intronic + - Neutral [40]
37 c.1668-19 A>G Intronic + - Neutral [40]
101 c.1689 A>G p.Ile563Met - Non-conserved - -
33 c.1732-2 A>T Intronic - - Pathogen [54]
34 c.1852_1853 AA>GC p.Lys618Ala + Non-conserved Neutral/Pathogen [9,11,45,46,48]
100 c.1942 C>T p.Pro648Ser - Conserved Pathogen [9,45,55]
35 c.1959 G>T p.Leu653Leu + - Neutral [42]
36 c.2152 C>T p.His718Tyr - Conserved Neutral [11,56]
  MSH2      
89 c.-118 T>C promoter + - - [32,33]
87 c.131 C>T p.Thr44Met - Conserved Pathogen [55]
88 c.134 C>T p.Ala45Val - Val other species Neutral [55]
39 c.212-23 A>C Intronic - - - -
90* c.287 G>A p.Arg96His - Non-conserved Neutral [57,58]
91* c.329 A>G p.Lys110Arg - Non-conserved Neutral [57]
92* c.380 A>G p.Asn127Ser - Conserved Neutral/Pathogen [48,59]
93 c.560 T>G p.Leu187Arg - Conserved Neutral/Pathogen [60]
41 c.965 G>A p.Gly322Asp + Conserved Neutral [51,61]
43 c.1511-9 A>T Intronic + - - -
48 c.1786_1788 del AAT p.Asn596del - Non-conserved Pathogen [62,63]
95* c.2006-6 T>C/G Intronic - - Neutral [64]
96 c.2062 A>G p.Met688Val - Conserved - -
97* c.2139 G>C p.Gly713Gly - - Neutral [57,65]
50 c.2500 G>A p.Ala834Thr - Non-conserved Neutral [10,66]
51 c.2542 G>T p.Ala848Ser - Conserved - -
  1. * identified in CRC families from other Caucasian populations than the Danish