Summary of mutations in seven disease-causing genes from seven genetic diseases.

aInheritance manner: AR (autosomal recessive), AD (autosomal dominant) and XR (X-linked recessive).
bSIFT classification: N.P (not predicted) and D (Damaging). Only the two novel variants were predicted with SIFT. SPG11 reference transcript NM_025137; STS reference transcript NM_000351; FBN1 reference transcript NM_000138; ATP7B reference transcript NM_000053; HBB reference transcript NM_000518; DMD reference transcript NM_000109.

a. 遗传方式：常染色体隐性（autosomal recessive, AR）、常染色体显性（autosomal dominant, AD）及X连锁隐性（X-linked recessive, XR）。
b. SIFT分类：未预测（not predicted, N.P）与有害（Damaging, D）。仅针对两个新变异开展了SIFT预测。SPG11参考转录本NM_025137；STS参考转录本NM_000351；FBN1参考转录本NM_000138；ATP7B参考转录本NM_000053；HBB参考转录本NM_000518；DMD参考转录本NM_000109。