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. 2023 Jul 5;14:3958. doi: 10.1038/s41467-023-39761-2

Table 2.

Candidate genes validated in small rosacea families via WES

Family Gene Genomic position Reference/alterative Consequence cDNA change Amino acid change GnomAD MAF SIFT Polyphen2
42 LRRC43 12: 122684858 T/C Missense c.T1472C p.V491A NA 0.003, Deleterious 0.915, Damaging
332 LRRC44 1: 74575239 T/C Splicing c.708-2 A > G NA NA NA NA
94 LRRC47 1: 3700588 T/G Missense c.A1282C p.K428Q NA 0.005, Deleterious 0.918, Damaging
313 LRRC55 11: 56949659 C/T Missense c.C292T p.R98W NA 0.017, Deleterious 0.997, Damaging
147 LRRCC1 8: 56949659 G/A Missense c.G1931A p.R644H 0.0008 0.000, Deleterious 0.999, Damaging
147 LRRCC1 8: 86050476 C/G Stopgain c.C2700G p.Y900X 0.0005 NA NA
311 LRRD1 7: 91788389 G/C Stopgain c.C2046G p.Y682X 0.0004 NA NA
314 LRRD1 7: 91779953 T/C Missense c.A2173G p.I725V 0.005 0.024, Deleterious 0.984, Damaging
399 LRRD1 7: 91779953 T/C Missense c.A2173G p.I725V 0.005 0.024, Deleterious 0.984, Damaging
48 LRRTM4 2: 77746619 T/C Missense c.A379G p.N127D 0.0015 0.004 Deleterious 1.0, Damaging
312 SH3PXD2A 10: 105363285 C/T Missense c.G1606A p.G536S 0.0001 0.037, Deleterious 1.0, Damaging
319 SLC26A8 6: 35945067 A/G Missense c.T772C p.S258P 0.00001759 0.006 Deleterious 0.999, Damaging

GnomAD Genome Aggregation Database, MAF minor allele frequency, SIFT Sorting Intolerant From Tolerant, Polyphen2 Polymorphism Phenotyping v2, NA not applicable.