Table 4.
PR1 and Ash1 variants compared to GRCh38
Variant type | Both variants disagree with GRCh38 | One variant agrees with GRCh38 |
---|---|---|
PR1 homozygous | 3,021,169 | n/a |
PR1 heterozygous | 16,744 | 3,512,566 |
Ash1 homozygous | 3,249,658 | n/a |
Ash1 heterozygous | 15,564 | 2,719,200 |
Variants include both substitutions and indels (up to 200 bp) in Ash1 or PR1 compared to GRCh38. We used the original Illumina reads to determine whether variants in PR1 and Ash1 were homozygous or heterozygous. n/a: not applicable.