| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.136062674G>A | CA446552315 | TGFBI | c.1998G>A (p.Arg666=) c.213-512G>A n.402G>A n.2515G>A c.1976G>A c.144G>A (p.Arg48=) c.1059-512G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.136062674G>C | CA250551 | TGFBI | c.1998G>C (p.Arg666Ser) c.213-512G>C n.402G>C n.2515G>C c.1976G>C c.144G>C (p.Arg48Ser) c.1059-512G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.136062674G= | CA1584807554 | TGFBI | c.1998G= (p.Arg666=) c.213-512G= n.402G= n.2515G= c.1976G= c.144G= (p.Arg48=) c.1059-512G= | dbSNP |