Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.226986537_226986538insTACGG | CA1225125417 | COQ8A | c.1744_1745insTACGG (p.Ser582IlefsTer11) c.*6471_*6472insTACGG (n.*6471_*6472insTACGG) c.1588_1589insTACGG (p.Ser530IlefsTer11) n.2606_2607insTACGG n.931_932insTACGG n.1134_1135insTACGG | dbSNP |
1 | g.226986537_226986538insTACG | CA529464708 | COQ8A | c.1744_1745insTACG (p.Ser582IlefsTer?) c.*6471_*6472insTACG (n.*6471_*6472insTACG) c.1588_1589insTACG (p.Ser530IlefsTer?) n.2606_2607insTACG n.931_932insTACG n.1134_1135insTACG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |