Table 4 List of known cancer genes and associated variants

BRCA2 (NM_000059.4)

BrC

c.2808_2811del (p.Ala938Profs^*21), rs80359351, VCV000009322.91

Class 5

S.03 (F.7)

S.04 (F.7)

c.7977-1G > C (p.?), rs81002874, VCV000038132.28

Class 5

S.21

MLH1 (NM_000249.4)

CRC

c.514G > A (p.Glu172Lys), COSV51617106

Class 3

S.23 (F.5)

S.25 (F.5)

MSH2 (NM_000251.3)

CRC

c.2228C > G (p.Ser743^*), rs63751155, VCV000090933.13

Class 5

S.39

MSH6 (NM_000179.3)

CRC

c.3724_3726del (p.Arg1242del), rs63749942, VCV000089450.22

Class 4

S.30

PMS2 (NM_000535.7)

CRC

c.614A > C (p.Gln205Pro), rs587779342, VCV000091361.24

Class 4

S.19

S.36 (F.2)

c.1A > G (p.Met1Val), rs587779333, VCV000091323.36

Class 5

S.19

S.36 (F.2)

PTCH1 (NM_000264.5)

GS

c.104G > A (p.Arg35Gln), rs587778627, VCV000135094.9

Class 3

S.44 (F.6)

SDHA (NM_004168.4)

PG

c.762_770 + 17del (p.Ala255_Gly257del), rs1041809852, VCV000412346.10

Class 3

S.25 (F.5)