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. 2018 Oct 1;26(Suppl 1):820–1023. doi: 10.1038/s41431-018-0248-6
CFTR NGS Results n = 54 (100) M470V (c.1408 A > G)
Genotype distribution
n = 46 (100) Poly T haplotype n = 100

c.1521_1523delCTT

c.1712 T > C

Compound Heterozygote 1 MM 54% 7 T/7 T 62%

c.1521_1523delCTT

c.1408 A > G

Compound Heterozygote 7 MV 40% 7 T/9 T 23%
c.1521_1523delCTT Heterozygote 8 VV 6% 5 T/7 T 9%

c.1712 T > C

c.1408 A > G

Compound Heterozygote 4 M allele frequency 74% 5 T/9 T 5%
c.2991 G > C Heterozygote 3 V allele frequency 26% 9 T/9 T 1%

c.2991 G > C

c.1408 A > G

Compound Heterozygote 5 Poly T allel frequency
c.224 G > A Heterozygote 4 5 T 7%
c.328 G > C Heterozygote 1 7 T 78%
c.3935 G > A Heterozygote 1 9 T 15%
Normal Genotype 20