Skip to main content
. 2019 Dec;5(6):a004481. doi: 10.1101/mcs.a004481

Table 1.

Summary of the variants reported in this study

Gene Chromosome HGVS DNA reference HGVS protein reference Variant type Predicted effect (substitution, deletion, etc.) dbSNP/dbVar ID Genotype (heterozygous/homozygous) Sample Percentage of reads aligned Average read coverage Percentage of SLC52A 2 sites (1354 bases) with ≥10-fold coverage
PROM1 Chr 4: 16077391delG (GRCh37/hg19) c.139del p.His47Ilefs*l2 Frameshift Frameshift deletion rs747512450 Heterozygous Proband 99.003 181.53 98.936
PROM1 Chr 4: 15993904delTA (GRCh37/hg19) c.1877_1878del p.Ile626Argfs*6 Frameshift Frameshift deletion rs1300041533 Heterozygous