Table 3.
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.