Table 2. Variants in the linked region common among four genomes (G01–G04) sequenced.
| Position on ChrX | dbSNP ID | Reference | Variant | Alleles in genomes | Comments | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| G01 | G02 | G03 | G04 | G05 | G06 | |||||
| 71212570 | rs41484056 | A | G | G | G | G | G/G | A | A | |
| 71219031 | rs41483845 | A | C | C | C | C | C/C | A | A | |
| 71262608 | rs41377154 | G | A | A | A | A | A/A | G | G | |
| 71268784 | rs41339045 | A | T | T | T | T | T/T | A | A | |
| 71301439 | G | Del | Del | G | G | G/G | G | G | Novel; Sanger sequencing later showed the deletion in G02, G03, and G04. | |
| 71339837 | rs41532445 | G | A | A | A | A | A/A | G | G | |
| 71344555 | rs41416246 | C | T | T | T | T | T/T | C | C | |
| 71391195 | T | G | G | G | G | G/G | T | T | DSC12 | |
| 71441489 | C | T | C | T | T | T/T | C | C | DSC10; Sanger sequencing later showed T for G01. | |
| 71483780 | rs4844149 | C | A | Ca | A | A | A/A | A | A | |
| 71513660 | T | A | A | A | A | A/A | T | T | DSC1 | |
| 71529785 | C | T | T | T | T | T/T | C | C | DSC3 | |
| 71531433 | G | A | A | A | A | A/A | G | G | DSC2 | |
| 71633571 | rs41438158 | C | T | T | T | T | T/T | C | C | |
| 71653235 | C | T | T | T | T | T/T | C | C | Novel | |
G05 and G06 are genomes from patients who do not carry the XDP haplotype. We validated six variants using Sanger sequencing (shaded rows) in all other male patients and in all control samples. Positions are based on GRCh38.
a
Possible genotyping error due to variant being in a repeat polymorphism; allele also found in controls.