From: A novel recurrent mutation in ATP1A3 causes CAPOS syndrome
Family 1, subject III-1 | Family 2, subject II-2 | |
---|---|---|
Total reads | 108,841,666 | 104,389,738 |
Chastity-passed reads | 103,868,186 | 102,337,954 |
Reads aligned with mapping quality ≥10 | 92,611,315 | 91,501,102 |
Average exome read deptha | 69x | 65x |
Non-synonymous single nucleotide variants | 10,911 | 11,254 |
Splice-site single nucleotide variants | 517 | 524 |
Coding insertions/deletionsb | 805/416 | 810/501 |
Non-silent variantsc not in dbSNP 129 or 130 | 2,259 | 2,209 |
Noveld heterozygous, autosomal variants | 390 | 224 |
Genes with novel non-identical heterozygous variants in both probands | 9e | |
Genes with novel identical heterozygous variants in both probands | 3f | |
Variant segregating in all 10 affected family members tested in three CAPOS families | ATP1A3 | |
chr19:47,166,267C > T (hg18)g | ||
c.2452G > Ah | ||
p.Glu818Lys |