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Table 2 Variants identified in SFTPC gene

From: Correlating SFTPC gene variants to interstitial lung disease in Egyptian children

Patient number

Variant

Location

SNP

SIFT/polyphene

1, 2, 3

Negative

   

4

c.42+35G>A (IVS1+35G>A)

Intron 1

rs8192340

Benign

5, 6, 7, 8, 9, 10

c.43-21T>C (IVS1-21T>C)

Intron 1

rs13248346

Benign

11

c.436-8C>G (IVS4-8C>G)

Intron 4

rs2070687

Benign

12, 13, 14, 15, 16

c.413 C>A (p.T138N)

Exon 4

rs4715

Possibly damaging

17, 18, 19, 20

c.557G>A (p.S186N)

Exon 5

rs1124

Benign