Table 1.
Candidate genes identified in large rosacea families via WGS
| Family | Gene | Genomic position | Reference/alterative | Consequence | cDNA change | Amino acid change | GnomAD MAF | SIFT | Polyphen2 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | LRRC4 | 7: 127669537 | A/G | Missense | c.T1157C | p.L386P | 0.000008244 | 0.025, Deleterious | 0.980, Damaging |
| 2 | SH3PXD2A | 10: 105362610 | G/A | Missense | c.C2281T | p.R761C | 0.0000907 | 0.000, Deleterious | 0.997, Damaging |
| 2 | MKI67 | 10: 129914272 | C/T | Splicing | c.401-1 G > A | NA | 0.0003 | NA | NA |
| 2 | KMT2C | 7: 151845490 | G/T | Missense | c.C13522A | p.P4508T | 0.00003295 | 0.041, Deleterious | 0.999, Damaging |
| 3 | SLC26A8 | 6: 35922970 | C/T | Missense | c.G1876A | p.V626I | 0.0004 | 0.007, Deleterious | 0.998, Damaging |
| 3 | C1orf106 | 1: 200880676 | G/C | Missense | c.G1055C | p.C352S | 0.00002488 | 0.018, Deleterious | 0.987, Damaging |
GnomAD Genome Aggregation Database, MAF minor allele frequency, SIFT Sorting Intolerant From Tolerant, Polyphen2 Polymorphism Phenotyping v2, NA not applicable.