| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.74505102T>C | CA151343 | LTBP2 | c.4250A>G (p.Gln1417Arg) c.4118A>G (p.Gln1373Arg) c.3869A>G (p.Gln1290Arg) c.3791A>G (p.Gln1264Arg) c.3767A>G (p.Gln1256Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74505102T>G | CA390386045 | LTBP2 | c.4250A>C (p.Gln1417Pro) c.4118A>C (p.Gln1373Pro) c.3869A>C (p.Gln1290Pro) c.3791A>C (p.Gln1264Pro) c.3767A>C (p.Gln1256Pro) | dbSNP |