| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.136056754C>G | CA361041905 | TGFBI | c.1637C>G (p.Ala546Gly) n.2154C>G c.1615C>G c.634C>G n.408C>G c.789C>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.136056754C>A | CA030886 | TGFBI | c.1637C>A (p.Ala546Asp) n.2154C>A c.1615C>A c.634C>A n.408C>A c.789C>A | ClinVar dbSNP |
| 5 | g.136056754C= | CA1584798313 | TGFBI | c.1637C= (p.Ala546=) n.2154C= c.1615C= c.634C= n.408C= c.789C= | dbSNP |