| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.74551266C>A | CA390398888 | LTBP2 | c.1484G>T (p.Arg495Leu) n.208G>T c.1025G>T (p.Arg342Leu) c.1001G>T (p.Arg334Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74551266C>T | CA151337 | LTBP2 | c.1484G>A (p.Arg495Gln) n.208G>A c.1025G>A (p.Arg342Gln) c.1001G>A (p.Arg334Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.74551266C= | CA2147096060 | LTBP2 | c.1484G= (p.Arg495=) n.208G= c.1025G= (p.Arg342=) c.1001G= (p.Arg334=) | dbSNP |
| 14 | g.74551266C>G | CA390398890 | LTBP2 | c.1484G>C (p.Arg495Pro) n.208G>C c.1025G>C (p.Arg342Pro) c.1001G>C (p.Arg334Pro) | dbSNP gnomAD v4 |