Family ID | Mutation (hg19, NM_004006) | Maternal genotype | Gestational age (week) | Maternal age (year) |
---|---|---|---|---|
D1 | c.5697_5698insA (p.Lys1899LysfsTer7) | heta | 12 | 31 |
D2 | c.1231A > T (p.Lys411Ter) | het | 12 | 29 |
D3 | c.1929G > A (p.Trp643Ter) | het | 12 | 26 |
D4 | c.2305G > T (p.Glu769Ter) | Normal | 12 | 31 |
D5 | Exon 12 deletion | het | 11 | 32 |