| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.74529111T>G | CA151339 | LTBP2 | c.1999A>C (p.Ile667Leu) c.1988-1745A>C (n.1988-1745A>C) c.1540A>C (p.Ile514Leu) c.1516A>C (p.Ile506Leu) | ClinVar dbSNP |
| 14 | g.74529111T>C | CA390395981 | LTBP2 | c.1999A>G (p.Ile667Val) c.1988-1745A>G (n.1988-1745A>G) c.1540A>G (p.Ile514Val) c.1516A>G (p.Ile506Val) | dbSNP gnomAD v2 gnomAD v4 |