Table 3

 Multiple NKX2–5 haplotypes in complex cardiac malformations

PatientsMutationsTotal
T516CA529GA547GA553TC573TC709TC735TA751CA751GA757GC832T
*(C/T), ratio of second highest peak to highest is 50%; (C/t) ratio of second highest peak to highest is 30%. Bold in nucleotides indicates variant alleles; bold in haplotypes indicates the reference allele.
E04VSD 2
PCR A/G A/T A/G A/G
Clone 1 A A A A Haplotype 1, all reference alleles
Clone 2GTGGHaplotype 2, all mutant alleles
Clone 3GTGG
Clone 4GTGG
Clone 5GTGG
Clone 6GTGG
E10VSD 3
PCR A/G A/T A/G A/G
Clone 1 A A A A Haplotype 1, all reference alleles
Clone 2 A A A A
Clone 3 A TGGHaplotype 2,
Clone 4GTGGHaplotype 3, all mutant alleles
Clone 5GTGG
Clone 6GTGG
E03VSD 3
PCR A/G C/T A/C C/T
Clone 1 A C A C Haplotype 1, all reference alleles
Clone 2 A C A C
Clone 3G C CTHaplotype 2
Clone 4GTCTHaplotype 3, all mutant alleles
D03VSD 3
PCR A/G C/T A/C C/T
Clone 1G C A C Haplotype 1, all reference alleles
Clone 2 A C A THaplotype 2
Clone 3GTCTHaplotype 3, all mutant alleles
E31VSD 4
PCR T/C C/T C/T
Clone 1 T C C Haplotype 1, all reference alleles
Clone 2 T C C
Clone 3 T C C
Clone 4 T C THaplotype 2
Clone 5 T C T
Clone 6 T C T
Clone 7 T C T
Clone 8 T T C Haplotype 3
Clone 9CT C Haplotype 4
Clone 10CT C
E35VSD 5
PCR C/t C/t C/t A/g A/g
Clone 1 C C C A A Haplotype 1, all reference alleles
Clone 2 C C C A A
Clone 3 C C C A A
Clone 4 C C T A A Haplotype 2
Clone 5 C C C GGHaplotype 3
Clone 6T C T A A Haplotype 4
Clone 7T C T A A
Clone 8TT C A A Haplotype 5
E39VSD 7
PCR T/C A/g A/g A/t C/t C/t C/t A/c/g A/c/g A/g C/t
Clone 1C A A A C C C A A C Haplotype 1
Clone 2 T A G A C C C A A C Haplotype 2
Clone 3CG A T C T C A A THaplotype 3
Clone 6 T A A A C C C C A THaplotype 4
Clone 5 T A A T C T C C A C Haplotype 5
Clone 4 T A G A C T C C A THaplotype 6
Clone 7 T A A A C C C GG C Haplotype 7
Clone 8 T A A A C C C GG C