| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.74500974del | CA269734 | LTBP2 | c.5376del (p.Cys1793AlafsTer?) c.*155del (n.*155del) n.594del c.5244del (p.Cys1749AlafsTer?) c.4995del (p.Cys1666AlafsTer?) c.4917del (p.Cys1640AlafsTer?) c.4893del (p.Cys1632AlafsTer?) | ClinVar dbSNP |
| 14 | g.74500974G= | CA3206710085 | LTBP2 | c.5376C= (p.Tyr1792=) c.*155C= (n.*155C=) n.594C= c.5244C= (p.Tyr1748=) c.4995C= (p.Tyr1665=) c.4917C= (p.Tyr1639=) c.4893C= (p.Tyr1631=) | dbSNP |