Table 1. Clinical characteristics of two... | Rockefeller University Press

Table 1.

Clinical characteristics of two male patients with SLE with one confirmed for carrying a rare TLR7 variant

Patients	TLR7 mutation	Allele frequency (gnomAD)	Mutation effect (SIFT)	Mutation effect CADD (MSC)	Variant effect predictor score	Current age	Age at onset	Autoimmune manifestation	Other
II.1						29 years (deceased)	1 year	SLE and autoimmune hemolytic anemia	Cerebrovascular accident
II.2	c.2519T > G p.L840R	Not present	Deleterious (0.01)	Deleterious 22.5 (16.3)	Likely pathogenic 0.599	22 years	3 years	SLE, ITP, and cervical lymphadenopathy	Iron deficiency anemia

Patients	TLR7 mutation	Allele frequency (gnomAD)	Mutation effect (SIFT)	Mutation effect CADD (MSC)	Variant effect predictor score	Current age	Age at onset	Autoimmune manifestation	Other
II.1						29 years (deceased)	1 year	SLE and autoimmune hemolytic anemia	Cerebrovascular accident
II.2	c.2519T > G p.L840R	Not present	Deleterious (0.01)	Deleterious 22.5 (16.3)	Likely pathogenic 0.599	22 years	3 years	SLE, ITP, and cervical lymphadenopathy	Iron deficiency anemia

MSC, mutation significance cutoff.