Table 1 List of Irish MMR mutations recorded in carriers

MLH1

c.1731 + 1G > A

Pathogenic

NR

1

5

MLH1

c.1928_1931dupTTGA (p.Asn645)

Pathogenic

NR

1

5

MLH1

c.544A > G (p.Arg182Gly)

Pathogenic

Exon 6

1

11

MLH1

c.350C > T (pThr117Met)

Pathogenic

Exon 4

2

6

MLH1

c.1664 T > C (p.Leu555Pro)

Pathogenic

Exon 14

1

1

MLH1

c.589-9_589-6delGTTT

Variant of unknown significance (2013 InSiGHT)

Intron 7

1

1

MLH1

c.735delC (p.Tyr245)

Pathogenic

Exon 9

1

1

MLH1

c.94delA

Pathogenic

Exon 1

1

2

MLH1

C.84_86dupAGC p. (Ala29dup)

Pathogenic

Exon 1

1

1

MLH1

c.84_86dupAGC (p.Ala29dup)

Pathogenic

Exon 1

1

1

MLH1

IVS15 + 1G > A

Pathogenic

NR

1

3

MLH1

deletion

Pathogenic

exons 3–6

1

1

MLH1

c.1937A > G (p.Tyr646Cys)

Pathogenic

exon 17

1

1

MLH1

deletion

Pathogenic

exon 6–8

1

1

MLH1

c.1990-1G > C

Pathogenic

exon 18

2

3

MLH1

IVS17 + 5 > A

Pathogenic

NR

1

1

MLH1

c.1943C > T (p.Pro648Leu)

Pathogenic

exon 17

1

2

MLH1

366-69delAAAG

Pathogenic

exon 4

1

5

MLH1

Hypermethylation

Pathogenic

MLH1 promoter region

1

1

MLH1

Constitutional epimutation

Pathogenic

MLH1 promoter region

1

1

MSH2

c.1684G > T (p.Glu562X)

Pathogenic

NR

1

4

MSH2

c.1786_1788delAA (p.Asn596del)

Pathogenic

exon 12

1

1

MSH2

IVS5 + 3A > T deletion

Pathogenic

NR

2

2

MSH2

c.2251G > A (p.Gly751Arg)

Pathogenic

exon 14

2

4

MSH2

p.A305T:GCA > ACA

Variant of uncertain significance (InSiGHT 2018)

NR

1

1

MSH2

c.2131_2133delCGA (p.Arg71del)

NR

NR

1

1

MSH2

CAT>TAT codon 639 His>Tyr

Pathogenic

NR

1

3

MSH2

2370insT

Pathogenic

exon 14

1

4

MSH2

L277X deletion

Pathogenic

NR

1

1

MSH2

c.3261delC (p. Phe1088Serfs”2)

Pathogenic

NR

1

1

MSH2

c.1277-1G > C

Pathogenic

exon 8

1

1

MSH2

c.1738_1741delGAAA (p.Glu580Leufs*9)

Pathogenic

exon 11

1

1

MSH2

intron 12 rearrangement

Pathogenic

intron 12

1

1

MSH2

c.212-1G > A

Pathogenic

NR

1

1

MSH2

heterozygous deletion

Pathogenic

exon 1–8

2

3

MSH2

c.2050delG (p.Val684)

Pathogenic

NR

1

1

MSH2

c.942 + 3A > T

Pathogenic

intron 5

1

1

MSH2

deletion S743X

Pathogenic

NR

1

1

MSH2

c.342 + 3A > T

Pathogenic

exon 5

1

4

PMS2

c.137G > T (p.Ser46Ile)

Pathogenic

exon 2

4

14

PMS2

deletion

Pathogenic

exon 9–15

1

1

PMS2

deletion

Pathogenic

exons 6–8

1

1

PMS2

deletion

Pathogenic

exons 1–15

1

1

MSH6

deletion

Pathogenic

exons 1–6

1

3

MSH6

c.770dupA(p.Asp257GlufsX6)

Pathogenic

exon 4

1

1

MSH6

3702-3702insAGAA

Pathogenic

NR

1

1

MSH6

c.334C > T (p.Gln132X)

Pathogenic

exon 2

1

1

MSH6

c.2061 T > A (p.Cys687X)

Pathogenic

exon 4

1

2

MSH6

c.2974G > T (p.(GLU992”))

Pathogenic

NR

1

2

MSH6

c.341dupG p. (Lys114GInfs”240)

Pathogenic

NR

1

1

EPCAM

EX6_3’UTRdel

Pathogenic

NR

1

2