| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.58148771C>T | CA253861 | FLNB | n.1362C>T c.5890C>T (p.Arg1964Ter) n.2108C>T n.2321C>T c.*4563C>T (n.*4563C>T) c.6031C>T (p.Arg2011Ter) c.6010C>T (p.Arg2004Ter) c.5938C>T (p.Arg1980Ter) c.5977C>T (p.Arg1993Ter) n.2278C>T c.6103C>T (p.Arg2035Ter) c.5431C>T (p.Arg1811Ter) c.6070C>T (p.Arg2024Ter) n.6248C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.58148771C= | CA1367518053 | FLNB | n.1362C= c.5890C= (p.Arg1964=) n.2108C= n.2321C= c.*4563C= (n.*4563C=) c.6031C= (p.Arg2011=) c.6010C= (p.Arg2004=) c.5938C= (p.Arg1980=) c.5977C= (p.Arg1993=) n.2278C= c.6103C= (p.Arg2035=) c.5431C= (p.Arg1811=) c.6070C= (p.Arg2024=) n.6248C= | dbSNP |