Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1

Table 2 The results of whole exome sequencing for M659

Gene	Chromosome location	rs No.	Mutant typing	Mutant site	Sequencing depth	Pathogenicity	Diseases
NF1	17: 29652964	.	Heterozygous	NM_001042492.3:exon37:c.4963delA:p. Thr1656Glnfs*42	85/89(0.49)	Pathogenic	NF1(AD); Familial spinal neurofibromatosis (AD), etc.

Note: Variant classification follows to the ACMG criteria; "." indicts absence in the databases;" AD "indicates autosomal dominant inheritance; Reference human genome version number: GRCh37 (hg19).

ISSN: 1755-8794