Whole-exome analysis results of P1.

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.