| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.74505039C>T | CA129853 | LTBP2 | c.4313G>A (p.Cys1438Tyr) c.4181G>A (p.Cys1394Tyr) c.3932G>A (p.Cys1311Tyr) c.3854G>A (p.Cys1285Tyr) c.3830G>A (p.Cys1277Tyr) | ClinVar dbSNP |
| 14 | g.74505039C= | CA2147075265 | LTBP2 | c.4313G= (p.Cys1438=) c.4181G= (p.Cys1394=) c.3932G= (p.Cys1311=) c.3854G= (p.Cys1285=) c.3830G= (p.Cys1277=) | dbSNP |