Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.58078747C>T | CA16042534 | FLNB | c.572C>T (p.Pro191Leu) n.715C>T n.731C>T c.65C>T (p.Pro22Leu) n.717C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.58078747C= | CA1367486667 | FLNB | c.572C= (p.Pro191=) n.715C= n.731C= c.65C= (p.Pro22=) n.717C= | dbSNP |