Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.173828312_173828313insC | CA1250049 | DARS2 | c.227+1526_227+1527insC (n.227+1526_227+1527insC) c.228-21_228-20insC (n.228-21_228-20insC) n.2140_2141insC n.611-21_611-20insC | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173828312_173828313insCC | CA1250051 | DARS2 | c.227+1526_227+1527insCC (n.227+1526_227+1527insCC) c.228-21_228-20insCC (n.228-21_228-20insCC) n.2140_2141insCC n.611-21_611-20insCC | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |