ID
Phenotype by ultrasound
Reference sequence
Sequencing results by clinical WES
Genetic subregion
Heterogeneity
Chromosomal Loci
Mutation type
Variant type(ACMG evidence levels)
Sanger verification
Sanger verification
Paternal Maternal
2 HL<-3.2SD,FL<-2.1SD; both femurs are slightly curved NM_000088.3 COL1A1:c.896G>A(p.G299D) Exon13 Het chr17:48273852-48273852 Pathogenic PS1+PS2+PM2+PP3 Wild Wild
16
FL<-2.0SD,HL<-2.0SD; both femurs are slightly curved
NM_000088.3
COL1A1:c.3235G>A(p.G1079S)
Exon44
Het
chr17:48265483-48265483
Likely pathogenic
PS1+PM2+PP3+PP4
Het
Wild
21 Fetal limbs slightly curved NM_000088.3 COL1A1:c.1301G>A(p.G434D) Exon20 Het chr17:48272460-48272460 Pathogenic PS2+PM2+PM5 +PP3+PP4 Wild Wild