| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.8768220C>T | CA175085 | ABAT | c.631C>T (p.Leu211Phe) n.514C>T c.*371C>T (n.*371C>T) c.676C>T (p.Leu226Phe) c.568C>T (p.Leu190Phe) c.538C>T (p.Leu180Phe) c.496C>T (p.Leu166Phe) c.433C>T (p.Leu145Phe) c.385C>T (p.Leu129Phe) c.727C>T (p.Leu243Phe) | ClinVar dbSNP gnomAD v4 |
| 16 | g.8768220C= | CA2206113590 | ABAT | c.631C= (p.Leu211=) n.514C= c.*371C= (n.*371C=) c.676C= (p.Leu226=) c.568C= (p.Leu190=) c.538C= (p.Leu180=) c.496C= (p.Leu166=) c.433C= (p.Leu145=) c.385C= (p.Leu129=) c.727C= (p.Leu243=) | dbSNP |