| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.14102205C>A | CA118860 | COX10 | c.587C>A (p.Thr196Lys) c.*76C>A (n.*76C>A) c.499+25149C>A (n.499+25149C>A) c.48+25149C>A (n.48+25149C>A) n.690C>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.14102205C= | CA2248939878 | COX10 | c.587C= (p.Thr196=) c.*76C= (n.*76C=) c.499+25149C= (n.499+25149C=) c.48+25149C= (n.48+25149C=) n.690C= | dbSNP |
| 17 | g.14102205C>T | CA398248838 | COX10 | c.587C>T (p.Thr196Ile) c.*76C>T (n.*76C>T) c.499+25149C>T (n.499+25149C>T) c.48+25149C>T (n.48+25149C>T) n.690C>T | dbSNP gnomAD v4 COSMIC |