| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.154568456C>T | CA3114629 | FGB | c.794C>T (p.Pro265Leu) n.775C>T c.137C>T (p.Pro46Leu) c.617C>T (p.Pro206Leu) c.662C>T (p.Pro221Leu) c.745+49C>T (n.745+49C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154568456C= | CA1504934050 | FGB | c.794C= (p.Pro265=) n.775C= c.137C= (p.Pro46=) c.617C= (p.Pro206=) c.662C= (p.Pro221=) c.745+49C= (n.745+49C=) | dbSNP |
| 4 | g.154568456C>A | CA358512704 | FGB | c.794C>A (p.Pro265Gln) n.775C>A c.137C>A (p.Pro46Gln) c.617C>A (p.Pro206Gln) c.662C>A (p.Pro221Gln) c.745+49C>A (n.745+49C>A) | dbSNP gnomAD v4 |