| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.14159926C>T | CA118861 | COX10 | c.674C>T (p.Pro225Leu) c.*163C>T (n.*163C>T) c.*42C>T (n.*42C>T) c.98C>T (p.Pro33Leu) n.777C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.14159926C>G | CA398250410 | COX10 | c.674C>G (p.Pro225Arg) c.*163C>G (n.*163C>G) c.*42C>G (n.*42C>G) c.98C>G (p.Pro33Arg) n.777C>G | ClinVar dbSNP |