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Table 2 The IL10RA gene information of the VEOIBD patients

From: Characterization of novel and large fragment deletions in exon 1 of the IL10RA gene in Chinese children with very early onset inflammatory bowel diseases

No

IL10RA

Father

Mother

Siblings

1

Exon 1: chr11:117857034–117857366 del

Exon 3: c.301C > T (p.R101W)

Exon 1:117857034–11857366 del

Exon 3: c.301C > T (p.R101W)

No

2

Exon 4: c.537G > A (p.179 T)

Exon 1: chr11:117857182–117857249 del

Exon 4: c.537G > A (p.179 T)

Exon1:117857182–117857249 del

Old sister, health, undetected

3

Exon 1: chr11:117857034–117857366 del

Exon 4: c.537G > A (p.179 T)

Exon 1:117857034–117857366 del

Exon4: c.537G > A (p.179 T)

No

4

Exon 4:c.537G > A (p.T179T)

Exon 1: chr11:117857034–117857366 del

Exon 4:c.537G > A (p.T179T)

Exon 1:117857034–117857366 del

No

5

Exon 1: chr11:117857034–117857366 del

Exon 3: c.301C > T (p.R101W)

Exon 1:117857034–11857362 del

Exon 3: c.301C > T (p.R101W)

Old sister, health, carrier

Exon 3: c.301C > T (p.R101W)

6

Exon 1: chr11:117,857,034–117,857,366 del

Exon 3: c.301C > T (p.R101W)

Exon 1:117857034–11857362 del

Exon 3: c.301C > T (p.R101W)

no

7

Exon 1: chr11:117857034–117857366 del

Exon 2: c.106G > A(p.A36T)

Exon 2:c.106G > A(p.A36T)

Exon 1: chr11:117857034–117857366 del

Old sister, health, undetected