Table 1 P/LP variants. cDNA and Protein changes are named according to HGVS nomenclature

S14

HBOC

RAD51D

c.958C > T

p.(Arg320Ter)

SNV

Nonsense

LP

S22

CRC

APC

c.2805C > A

(p.Tyr935Ter)

SNV

Nonsense

P

MUTYH

c.1187G > A

(p.Gly396Asp)

SNV

Missense

P

TP53

c.845G > A

(p.Arg282Gln)

SNV

Missense

P

S36

HBOC

XPC

c.1001C > A

p.(Pro334His)

SNV

Missense

P

S38

LS

MSH2

c.792G > C

p.(Gln264His)

SNV

Missense ^a

LP

S39

LS

MUTYH

c.536A > G

p.(Tyr179Cys)

SNV

Missense

P

S51

FAP

MUTYH

c.1187G > A

p.(Gly396Asp)

SNV

Missense ^a

P

MUTYH

c.1437_1439delGGA

p.(Glu480del)

del

Missense

P

S58

HBOC

MUTYH

c.1101dupC

p.(Arg368GlnfsTer164)

dup

Frameshift

P

S63

HBOC

ATM

c.8249_8252delTAAC

p.(Thr2751SerfsTer54)

del

Frameshift ^a

LP

MUTYH

c.1101dupC

p.(Arg368GlnfsTer164)

dup

Frameshift

P

S69

HBOC

PALB2

c.2964delA

p.(Val989Ter)

del

Frameshift

P

S70

HBOC

BRCA1

c.115 T > C

p.(Cys39Arg)

SNV

Missense

P

S77

HBOC

BRCA1

c.3770_3771delAG

p.(Glu1257GlyfsTer9)

del

Frameshift

P

S84

LS

BRIP1

c.2990_2993delCAAA

p.(Thr997ArgfsTer61)

del

Frameshift

LP

S87

LS

TP53

c.638G > A

p.(Arg213Gln)

SNV

Missense

P

S89

LS

BRCA2

c.5980C > T

p.(Gln1994Ter)

SNV

Nonsense

P

S91

HBOC

BRCA2

c.9025_9029delTATCA

p.(Tyr3009SerfsTer7)

del

Frameshift

P