Table 4.
Rare variants leading to protein coding changes on the chromosome X
| Gene | Function | Variant | Frequency |
rs ID | ||
| dbSNP | 1000 Genome | HapMap | ||||
| CXorf59 | Missense | c.1267C>G | ||||
| CXorf59 | Frameshift | c.1267_1268insTG | ||||
| EDA2R | Missense | c.323C>T | 0.001 | rs186691097 | ||
| GPR112 | Inframe | c.7966_7968delGAT | ||||
| IL13RA2 | Missense | c.907C>A | ||||
| MAP3K15 | Splice | c.3567-8delT | ||||
| NHS | Nonsense | c.322G>T | ||||
| NUDT11 | Splice | c.1_−1_13delGCTGCCTCGAGGA | ||||
| PRDX4 | Splice | c.242-10 A>T | 0.001 | rs513572 | ||
| TEX11 | Splice | c.1202-4delT | ||||
| ZBTB33 | Inframe | c.563_564insTGA | ||||
| ZNF182 | Missense | c.282C>A | 0.006 | 0.0065 | rs150066211 | |
rs ID: reference SNP ID number