Table 1.
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 |