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 | - | - |