| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.91937058C>T | CA213355 | FBLN5 | c.*234G>A (n.*234G>A) c.100G>A (p.Gly34Ser) c.442G>A (p.Gly148Ser) c.268G>A (p.Gly90Ser) c.*118+74G>A (n.*118+74G>A) c.391G>A (p.Gly131Ser) c.283G>A (p.Gly95Ser) n.514G>A c.319G>A (p.Gly107Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91937058C>G | CA390639836 | FBLN5 | c.*234G>C (n.*234G>C) c.100G>C (p.Gly34Arg) c.442G>C (p.Gly148Arg) c.268G>C (p.Gly90Arg) c.*118+74G>C (n.*118+74G>C) c.391G>C (p.Gly131Arg) c.283G>C (p.Gly95Arg) n.514G>C c.319G>C (p.Gly107Arg) | dbSNP gnomAD v3 gnomAD v4 |