| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.226982947C>T | CA116409 | COQ8A | c.993C>T (p.Phe331=) c.*5720C>T (n.*5720C>T) c.*5842C>T (n.*5842C>T) c.837C>T (p.Phe279=) n.972C>T n.383C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.226982947C= | CA1140613020 | COQ8A | c.993C= (p.Phe331=) c.*5720C= (n.*5720C=) c.*5842C= (n.*5842C=) c.837C= (p.Phe279=) n.972C= n.383C= | dbSNP |
| 1 | g.226982947C>A | CA345052850 | COQ8A | c.993C>A (p.Phe331Leu) c.*5720C>A (n.*5720C>A) c.*5842C>A (n.*5842C>A) c.837C>A (p.Phe279Leu) n.972C>A n.383C>A | dbSNP gnomAD v4 |