Next Generation Sequencing to Determine the Cystic Fibrosis Mutation Spectrum in Palestinian Population

Table 2

CFTR mutations among Palestinians in Gaza and West Bank.

c-notation	p-notation	Exon/intron	dbSNP #	# of patients Gaza	# of patients West Bank	Patient(s)
del exon2		Exon 2		1	1	24 (het), 43
c.223C>T	p.(Arg75^*)	Exon 3	121908749	1		13
c.254G>A	p.(Gly85Glu)	Exon 3	75961395		4	44 (het), 56, 57 (het), 58
c.1040G>C	p.(Arg347Pro)	Exon 8	77932196	1		33
c.1209+1G>A		Intron 9	397508176	1		2
c.1393−1G>A		Intron 10	397508200		4	42, 47, 54, 55 (het)
c.1521_1523delCTT	p.(Phe508del)	Exon 11	113993960	11	5	1, 3, 9, 11, 17, 19, 22 (het), 23, 24 (het), 28 (het), 29, 46, 48, 49 (het), 50, 52
c.1585−1G>A		Intron 11	76713772	2		26, 31
c.1624G>T	p.(Gly542^*)	Exon 12	113993959	1		28 (het)
c.2051_2052delAAinsG	p.(Lys684Serfs^*38)	Exon 14	121908799	2		8, 25
c.2089_2090insA	p.(Arg697fs)	Exon 14	397508341	1		22 (het)
c.2988+1Kbdel8.6Kb		Exons 19, 20, 21		4	1	10, 20, 21, 36, 49 (het)
c.3299A>C	p.(Gln1100Pro)	Exon 20	397508535		1	57 (het)
c.3793G>A^1	p.(Gly1265Arg)	Exon 23			1	16
c.3808G>A	p.(Asp1270Asn)	Exon 23	11971167		1	18 (het)
c.3846G>A	p.(Trp1282^*)	Exon 23	77010898		2	55 (het), 60
c.3909C>G	p.(Asn1303Lys)	Exon 24	80034486		2	44 (het), 51
c.4251delA	p.(Glu1417fs)	Exon 27	397508706	1		6

¹Previously undescribed mutation.
All mutations are homozygous except those indicated by (het).
In patients P4, P5, P7, P12, P14, P15, P27, P30, P32, P34, P35, P37, P38, P39, P40, P41, P45, P53, and P59 no mutation was detected.
In P18 only one mutation was detected.