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Table 1 Clinical & family history of RB patients and samples selected for NGS

From: Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma

Patient no

Age (months)/Sex

Laterality

Family history

Samples analysed by NGS

RB1

4/F

Bilateral

Father with regressed RB

Patient’s blood

RB2

1/F

Bilateral

Father with regressed RB

Patient’s blood

RB3

33/F

Bilateral

Nil

Patient’s blood

RB4

4/M

Bilateral

Mother and sibling affected with RB

Patient’s blood

RB5

0/F

Bilateral

Nil

Patient’s blood

RB6

31/F

Bilateral

Three siblings affected with RB

Patient’s blood

RB7

39/F

Bilateral

Father affected with RB

Patient’s and Father’s blood

RB8

44/M

Unilateral

Nil

Patient’s blood and tumor

RB9

7/F

Unilateral

Nil

Patient’s tumor

RB10

0/M

Unilateral

Nil

Patient’s tumor

RB11

5/F

Unilateral

One sibling affected with RB

Patient’s and Sibling’s blood

RB12

14/M

Unilateral

Nil

Patient’s blood and tumor

RB13

12/M

Bilateral

Nil

Patient’s blood

RB14

44/F

Bilateral

Father and sibling affected with RB

Patient’s blood

RB15

11/M

Bilateral

Father affected with RB

Patient’s blood

RB16

0/M

Bilateral

Nil

Patient’s blood

RB17

0/M

Bilateral

Father and sibling affected with RB

Patient’s blood

RB18

26/F

Bilateral

Nil

Patient’s blood

RB19

36/F

Bilateral

Nil

Patient’s blood

RB20

31/M

Bilateral

Nil

Patient’s blood

RB21

12/M

Unilateral

Nil

Patient’s tumor

RB22

18/F

Unilateral

Nil

Patient’s tumor

RB23

19/M

Bilateral

Father and sibling affected with RB

Patient’s blood

RB24

26/F

Bilateral

Nil

Patient’s blood

RB25

8/F

Bilateral

Nil

Patient’s blood and tumor

RB26

12/F

Bilateral

Nil

Patient’s blood

RB27

66/F

Bilateral

Nil

Patient’s blood

RB28

58/F

Unilateral

Nil

Patient’s tumor

RB29

28/M

Unilateral

Nil

Patient’s tumor

RB30

18/M

Unilateral

Nil

Patient’s tumor

RB31

88/M

Unilateral

Nil

Patient’s tumor

RB32

27/M

Unilateral

Nil

Patient’s tumor

RB33

3/M

Bilateral

Nil

Patient’s blood

  1. The age at which first sign was detected is given in months. Laterality was confirmed by the clinical investigations and imaging (CT Scan/MRI, Ultrasound, Retcam). Family history was ascertained by three or four generation pedigree. NGS was performed on patient’s tumor wherever available. In three patients (RB8, RB12 and RB25), both blood and tumor samples were analyzed. In two families, affected members were also included for NGS along with patients (RB7 and RB11).