| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.96416081T>C | CA128660 | PCSK1 | c.661A>G (p.Asn221Asp) c.520A>G (p.Asn174Asp) n.354+36429T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96416081T= | CA1565411995 | PCSK1 | c.661A= (p.Asn221=) c.520A= (p.Asn174=) n.354+36429T= | dbSNP |
| 5 | g.96416081T>A | CA360483136 | PCSK1 | c.661A>T (p.Asn221Tyr) c.520A>T (p.Asn174Tyr) n.354+36429T>A | dbSNP |
| 5 | g.96416081T>G | CA360483140 | PCSK1 | c.661A>C (p.Asn221His) c.520A>C (p.Asn174His) n.354+36429T>G | dbSNP |