Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.17496938C>T | CA408316449 | BFSP1 | c.1042G>A (p.Asp348Asn) c.625G>A (p.Asp209Asn) c.667G>A (p.Asp223Asn) c.709G>A (p.Asp237Asn) c.934G>A (p.Asp312Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.17496938C>A | CA408316445 | BFSP1 | c.1042G>T (p.Asp348Tyr) c.625G>T (p.Asp209Tyr) c.667G>T (p.Asp223Tyr) c.709G>T (p.Asp237Tyr) c.934G>T (p.Asp312Tyr) | dbSNP gnomAD v2 gnomAD v4 |