Table 1 Mutations in TNFRSF13B Exon .... | American Society of Hematology

Table 1

Mutations in TNFRSF13B

Exon	NCBI_SS no.	cDNA*	Protein†	Domain
2	10516792	c.118T>C	p.W40R	CRD1, extracellular
	10516793	c.121delG	p.D41Ifs*43	CRD1, extracellular
	10516794	c.121G>C	p.D41H	CRD1, extracellular
3	10516795	c.204insA	p.L69Tfs*12	CRD2, extracellular
	10516796	c.236A>G	p.Y79C	CRD2, extracellular
	10516797	c.260T>A	p.I87N	CRD2, extracellular
	10516798	c.298insT	p.C100Lfs*6	CRD2, extracellular
	48424922	c.310T>C	p.C104R	CRD2, extracellular
	10516799	c.311G>A	p.C104Y	CRD2, extracellular
	10516800	c.445G>A	p.A149T	Stalk region
4	10516801	c.455G>A	p.G152E	Stalk region
	10516802	c.492C>A	p.Y164X	Stalk region
	10516803	c.542C>A	p.A181E	Transmembrane
	10516804	c.571insG	p.D191Gfs*46	Intracellular
	10516805	c.579C>A	p.C193X	Intracellular
5	10516806	c.736G>T	p.V246F	Intracellular

Exon	NCBI_SS no.	cDNA*	Protein†	Domain
2	10516792	c.118T>C	p.W40R	CRD1, extracellular
	10516793	c.121delG	p.D41Ifs*43	CRD1, extracellular
	10516794	c.121G>C	p.D41H	CRD1, extracellular
3	10516795	c.204insA	p.L69Tfs*12	CRD2, extracellular
	10516796	c.236A>G	p.Y79C	CRD2, extracellular
	10516797	c.260T>A	p.I87N	CRD2, extracellular
	10516798	c.298insT	p.C100Lfs*6	CRD2, extracellular
	48424922	c.310T>C	p.C104R	CRD2, extracellular
	10516799	c.311G>A	p.C104Y	CRD2, extracellular
	10516800	c.445G>A	p.A149T	Stalk region
4	10516801	c.455G>A	p.G152E	Stalk region
	10516802	c.492C>A	p.Y164X	Stalk region
	10516803	c.542C>A	p.A181E	Transmembrane
	10516804	c.571insG	p.D191Gfs*46	Intracellular
	10516805	c.579C>A	p.C193X	Intracellular
5	10516806	c.736G>T	p.V246F	Intracellular

SS indicates submitted SNP.

NCBI nucleotide entry NM_012452.

NCBI protein entry NP_036584.