| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.96429259C>T | CA3350550 | PCSK1 | c.239G>A (p.Arg80Gln) c.98G>A (p.Arg33Gln) n.354+49607C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96429259C>A | CA3350551 | PCSK1 | c.239G>T (p.Arg80Leu) c.98G>T (p.Arg33Leu) n.354+49607C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96429259C= | CA1565418085 | PCSK1 | c.239G= (p.Arg80=) c.98G= (p.Arg33=) n.354+49607C= | dbSNP |
| 5 | g.96429259C>G | CA360485239 | PCSK1 | c.239G>C (p.Arg80Pro) c.98G>C (p.Arg33Pro) n.354+49607C>G | dbSNP gnomAD v4 |