| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.14102230C>A | CA118859 | COX10 | c.612C>A (p.Asn204Lys) c.*101C>A (n.*101C>A) c.499+25174C>A (n.499+25174C>A) c.48+25174C>A (n.48+25174C>A) n.715C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.14102230C= | CA2248939934 | COX10 | c.612C= (p.Asn204=) c.*101C= (n.*101C=) c.499+25174C= (n.499+25174C=) c.48+25174C= (n.48+25174C=) n.715C= | dbSNP |