ACMG指南快速入门

1. 关于变异的分类

 

2. 证据条目说明

 

 

 

 

 

参考

1. 怎样看懂一份基因检测报告：给胚系突变分个类

https://mp.weixin.qq.com/s?__biz=MzUzMDg1NDM3Nw==&mid=2247506447&idx=1&sn=11e716deb7f31a07467b6d2edc4ace1c&chksm=fa49e289cd3e6b9f04f9d529cc3a35b97adcb44193c7b191a03fec14f9635f39b22520f76d0d&scene=27

2. ACMG 致病性评估标准及案例分析

https://www.bilibili.com/video/BV1or4y1d7fK/?spm_id_from=333.337.search-card.all.click&vd_source=d2270da87578bd9698bdca96bd5fb7ae