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Table 2 Genetic variants observed in the MYH gene in Polish FAP patients

From: MYH Gene Status in Polish FAP Patients without APC Gene Mutations

No.

Proband

Mutation

Genetic variant

Phenotype

1

9039

494A>G 506G>A

Y165C G169D

FAP

2

9121

494A>G

Y165C

FAP

3

9160

494A>G

Y165C

FAP

4

9164

494A>G

Y165C

FAP

5

9056

1145G>A

G382D

AFAP

6

9101

1145G>A

G382D

FAP

7

9109

1145G>A

G382D

FAP

8

9113

1145G>A

G382D

FAP

9

9120

1145G>A

G382D

FAP

10

9132

1145G>A

G382D

FAP

11

9133

1145G>A

G382D

AFAP

12

9140

1145G>A

G382D

AFAP

13

9157

1145G>A

G382D

FAP

14

9052

64G>A

V22M

FAP

15

9054

64G>A

V22M

FAP

16

9055

64G>A

V22M

FAP

17

9072

64G>A

V22M

FAP

18

9163

64G>A

V22M

AFAP