| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.136056780C>T | CA119119 | TGFBI | c.1663C>T (p.Arg555Trp) n.2180C>T c.1641C>T c.660C>T n.434C>T c.815C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.136056780C>G | CA361042065 | TGFBI | c.1663C>G (p.Arg555Gly) n.2180C>G c.1641C>G c.660C>G n.434C>G c.815C>G | dbSNP gnomAD v4 |
| 5 | g.136056780C= | CA1584798370 | TGFBI | c.1663C= (p.Arg555=) n.2180C= c.1641C= c.660C= n.434C= c.815C= | dbSNP |