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Table 1 Genotype of the six family members

From: Identification of a novel TP63 mutation causing nonsyndromic cleft lip with or without cleft palate

Name Members of the pedigree Gene Exon / intron Transcript number Nucleotide change Amino acid changes Heterozygous / homozygous Source of variation
IV:4 Proband TP63 Exon10 NM_003722.5 c.1324C>T p.Q442* Heterozygous III:3
III:2 Uncle TP63 Exon10 NM_003722.5 c.1324C>T p.Q442* Heterozygous II:4
III:3 Mother TP63 Exon10 NM_003722.5 c.1324C>T p.Q442* Heterozygous II:4
III:4 Father / / / / / Not detected /
II:4 Grandmother TP63 Exon10 NM_003722.5 c.1324C>T p.Q442* Heterozygous /
II:5 Grandfather / / / / / Not detected /