Figure 5.
Summary of various genomic variants proposed to contribute to human diseases. (A) and (B) show that the disease was caused by a homozygous SNV or a homozygous deletion commonly affecting a disease-causing gene in autosomal recessive manner. (C–F) indicate that the disease was caused by a heterozygous SNV [NM_004333: c.G1411T (p.V471F) in 16C1953], a heterozygous deletion (seq[hg19] del(16)(p11.2)dn chr16:g.29538256_30290160del in 18NT0018), a triplication (seq[hg19] trp(2)(q11.2q21.1)dn chr2:g.98070117_131452568trp in 17C0070), and a heterozygous SV (seq[hg19]ins(2;12)(q33.2;q24.31)g.[chr2:203384219_203384293inschr12:122757221_122907271cx] chr12:g.122757221_122907271del in 18NT0003), respectively, commonly affecting a disease-causing gene in autosomal dominant manner; (G–L) show that the disease was contributed by compound heterozygosity, a combination of two or more variants. (G) The typical mode of compound heterozygosity (NM_018076:c.1614_1615del (p.P538fs) and NM_018076: c.C2306A (p.P769H) from different parental origin in 14C1232). A gene content is indicated by a green bar. SNV/InDel, deletion, duplication, and SV are indicated by a red cross, a white bar (with red slashes), an elongated green bar (with red dotted line), and a pair of opposite blue arrows, respectively.