48

ATM

c.3663G>A

p.Trp1221

rs864622490

Patogénica

52

ATM

c.2839-3_2839delinsGATACTA

rs786202148

Patogénica

APC

c.1895T>C

p.Ile632Thr

rs587781360

Incierto

3

ATM

c.6919C>T

p.Leu2307Phe

rs56009889

Incierto

SMAD4

c746_747delinsCC

p.Gln249delinsPro

rs587782209

Incierto

23

BAP1

c.623G>A

p.Arg208Gln

rs867416499

Incierto

32

BRIP1

c.3088_3096dup

p.Ala1030_Ser1032dup

rs1187782159

Incierto

36

CDKN2A

c.146T>C

p.lle49Thr

rs199907548

Incierto

5

CHEK2

c.1567C>T

p.Arg523Cys

rs149501505

Incierto

30

DICER1

c.1798G>C

p.D600H

Incierto

22

FANCM

c.5832G>T

p.Leu1944Phe

rs201017015

Incierto

41

FH

c.1481C>T

p.Ala494Val

rs752369363

Incierto

TSC1

c.2432G>A

p.Arg811Gln

rs761281095

Incierto

11

MLH1

c.2219T>C

p.lle740Thr

rs1044486319

Incierto

12

MUTYH

c.1227_1228dup

p.Glu4110Glyfs*43

rs587780078

Patogénico

16

MUTYH

c.1227_1228dupGG

p.Glu410Glyfs*43

rs587780078

Patogénico

20

PALB2

c.509_510del

p.Arg170llefs*14

rs515726123

Patogénico

14

PMS2

c.865T>A

p.Phe2891le

rs771787834

Incierto

47

POLE

c.4150C>T

rs756837862

Incierto

6

RAD51C

c.492T>G

p.Phe164Leu

rs573992101

Incierto

17

TP53

c.604C>T

p.Arg202Cys

rs587780072

Incierto

50

TP53

c.587G>C

p.Arg196Pro

rs483352697

Patogénica

43

TP53

c.587G>C

p.Arg196Pro

rs483352697

Patogénica