Study on pathogenic genes of dwarfism disease by next-generation sequencing

Table 2 Pathogenicity variability of dwarf disease by next-generation sequencing

Number	Gene	Location	Base change	Amino acid change	Type
20	TAB2	NM-015093.5	c.252delA	Ser84fs	Heterozygote
		NM-015093.5	c.254insCCATGGAAGAGAAG	Gln85fs	Heterozygote
29	OBSL1	NM-015311.2	c.3337C > T	Arg1113Cys	Heterozygote
	OBSL1	NM-001173408.1	c.82G > A	Glu28Lys	Heterozygote
31	OBSL1	NM-015311.2	c.1365-1387dup	Arg463fs	Heterozygote
	OBSL1	NM-015311.2	c.458dupG	Leu154fs	Heterozygote
32	SLC26A2	NM-000112.3	c.485-486delTG	Val162fs	Heterozygote
	SLC26A2	NM-000112.3	c.484G > T	Val162Leu	Heterozygote
34	PTPN11	NM-002834.3	C.844A > G	Ile282Val	Heterozygote
35	COL27A1	NM-032888.3	c.2113C > T	Pro705Ser	Heterozygote
	COL27A1	NM-032888.3	c.4066C > C	Asp1356His	Heterozygote
36	COL27A1	NM-032888.3	c.1163C > T	Thr388Ile	Heterozygote
	COL27A1	NM-032888.3	c.2113C > T	Pro705Ser	Heterozygote
	HDAC6	NM-006044.2	c.3049G > A	Glu1017Lys	Heterozygote
37	CUL7	NM-014780.4	c.4898C > T	Thr1633Me	Heterozygote
	CUL7	NM-014780.4	c.4261A > G	Thr1421Ala	Heterozygote
	FGFR3	NM-000142.4	c.1738G > A	Asp580Asn	Heterozygote
	DYNC2H1	NM-001377.2	c.12316T > G	Leu4106Va	Heterozygote
38	GH1	NM-000515.4	c.291 + 28G > A		z heterozygote
39	ATP7B	NM-000053.3	c.3889G > A	V1297I	Heterozygote
	ATP7B	NM-000053.3	c.2785A > G	I929V	Heterozygote