Whole-exome analysis results of P1.
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Coding variants include missense, nonsense, frameshift, in-frame deletions and insertions and readthrough variants. Splice variants include all variants within 8 bp in the intron side, or 3 bp in the exon side of a splice junction. a: Both homozygous and heterozygous variations are included. b: Position coordinates for the markers correspond to the hg19, NCBI build 37.
创建时间：
2012-01-04
