Table 2 SNVs in MMR and proofreading genes

1

MSH2

p.V78I (c.G232A)

Deleterious

–

2

POLE

p.E991Q (c.G2971C)

Deleterious

–

PMS1

p.A6V (c.C17T)

Deleterious

–

MSH2

p.A600T (c.G1798A)

Deleterious

–

3

MSH2

p.Q629R (c.A1886G)

Neutral

Not_provided;benign

MLH1

p.Q701K (c.C2101A)

Neutral

Likely_benign;pathogenic

4

MSH2

p.R929X (c.C2785T)

–

Pathogenic

MSH2

p.T564A (c.A1690G)

Neutral

Benign

5

PMS2

p.H435Q (c.C1305G)

Neutral

–