Skip to main content
. Author manuscript; available in PMC: 2020 Apr 27.
Published in final edited form as: Hum Mutat. 2020 Jan 16;41(4):786–799. doi: 10.1002/humu.23969

FIGURE 1.

FIGURE 1

Identification of spina bifida-associated frameshift (FS) variants and missense variants in the Rad9B gene. (a). Conserved domains and total scheme of the Rad9B and positions of the detected novel mutations. Red mutations in the panel were identified as missense variants in the spina bifida cases, while green variants were determined to be frameshift mutations. (b). Examination of whole-genome bam-files of indicated mutations. Mutations are all covered with at least 60 reads in indicated regions. All detected mutations have Sequencing Quality Score Q >30. (c). Sanger Sequencing results for the 280-NTD-cohort, mutations were detected using a 3730 DNA analyzer and confirmed by Mutation Surveyor V 4.0.7. targeting NCBI protein (RAD9B, NT_009775, NC_000012.12). NTD, neural tube defect