| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.74508685C>T | CA151341 | LTBP2 | c.3571G>A (p.Glu1191Lys) c.368G>A c.3190G>A (p.Glu1064Lys) c.3112G>A (p.Glu1038Lys) c.3088G>A (p.Glu1030Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74508685C= | CA2147077103 | LTBP2 | c.3571G= (p.Glu1191=) c.368G= c.3190G= (p.Glu1064=) c.3112G= (p.Glu1038=) c.3088G= (p.Glu1030=) | dbSNP |
| 14 | g.74508685C>G | CA390388165 | LTBP2 | c.3571G>C (p.Glu1191Gln) c.368G>C c.3190G>C (p.Glu1064Gln) c.3112G>C (p.Glu1038Gln) c.3088G>C (p.Glu1030Gln) | dbSNP |