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. 2022 Sep 23;13:960068. doi: 10.3389/fimmu.2022.960068

Table 3.

Benign/Likely benign variants.

Gene Patient Chromosomal position* AA change Nucleotide change Exon Type Zygosity dbSNP ID AF (EgyptRef) Global AF
CFH PI17 196643015 p.T91= c.273T>C Exon 3 Synonymous Het
CFH LN16 196646739 p.D187= c.561T>C Exon 5 Synonymous Het
CFH LN3 196654300 p.Y299= c.897T>C Exon 7 Synonymous Het
CFH LN14 196684820 p.G539= c.1617T>C Exon 12 Synonymous Het rs147170171 0.0000598
CFH PI19 196684844 p.T547= c.1641C>T Exon 12 Synonymous Het
CFH LN3 196684855 p.I551T c.1652T>C Exon 12 Missense Het rs35453854 0.009091 0.00396
CFH PI18 196684859 p.V552= c.1656G>A Exon 12 Synonymous Hom
CFH PI20 196697588 p.G783= c.2349A>T Exon 16 Synonymous Het
CFH PI11 196712655 p.S1096= c.3207T>C Exon 21 Synonymous Het rs62641697 0.00104
CD46 PI21 207925593 p.P12= c.36T>C Exon 1 Synonymous Het
CD46 LN 18 207925626 p.A23= c.69C>T Exon 1 Synonymous Het

PI, post-infectious; LN, lupus nephritis; Het, heterozygous; Hom, homozygous; AF, Global (gnomAD: Exomes).

*Chromosomal positions are according to GRCh37.