| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.58109627G>C | CA253858 | FLNB | n.2394G>C c.2251G>C (p.Gly751Arg) c.*783G>C (n.*783G>C) c.1744G>C (p.Gly582Arg) n.2396G>C | ClinVar dbSNP |
| 3 | g.58109627G>A | CA353343390 | FLNB | n.2394G>A c.2251G>A (p.Gly751Ser) c.*783G>A (n.*783G>A) c.1744G>A (p.Gly582Ser) n.2396G>A | ClinVar dbSNP gnomAD v4 |