| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.39119621C>A | CA3245986 | FYB1 | c.2014G>T (p.Val672Phe) c.2152G>T (p.Val718Phe) c.2182G>T (p.Val728Phe) c.338G>T n.146G>T c.2044G>T (p.Val682Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.39119621C= | CA1540561678 | FYB1 | c.2014G= (p.Val672=) c.2152G= (p.Val718=) c.2182G= (p.Val728=) c.338G= n.146G= c.2044G= (p.Val682=) | dbSNP dbSNP |
| 5 | g.39119621C>G | CA359551364 | FYB1 | c.2014G>C (p.Val672Leu) c.2152G>C (p.Val718Leu) c.2182G>C (p.Val728Leu) c.338G>C n.146G>C c.2044G>C (p.Val682Leu) | dbSNP gnomAD v4 |
| 5 | g.39119621C>T | CA359551365 | FYB1 | c.2014G>A (p.Val672Ile) c.2152G>A (p.Val718Ile) c.2182G>A (p.Val728Ile) c.338G>A n.146G>A c.2044G>A (p.Val682Ile) | dbSNP |