| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.91937148C>G | CA213136 | FBLN5 | c.*144G>C (n.*144G>C) c.10G>C (p.Val4Leu) c.352G>C (p.Val118Leu) c.178G>C (p.Val60Leu) c.*102G>C (n.*102G>C) c.301G>C (p.Val101Leu) c.193G>C (p.Val65Leu) n.424G>C c.229G>C (p.Val77Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91937148C= | CA2155180601 | FBLN5 | c.*144G= (n.*144G=) c.10G= (p.Val4=) c.352G= (p.Val118=) c.178G= (p.Val60=) c.*102G= (n.*102G=) c.301G= (p.Val101=) c.193G= (p.Val65=) n.424G= c.229G= (p.Val77=) | dbSNP |
| 14 | g.91937148C>T | CA390640014 | FBLN5 | c.*144G>A (n.*144G>A) c.10G>A (p.Val4Ile) c.352G>A (p.Val118Ile) c.178G>A (p.Val60Ile) c.*102G>A (n.*102G>A) c.301G>A (p.Val101Ile) c.193G>A (p.Val65Ile) n.424G>A c.229G>A (p.Val77Ile) | dbSNP gnomAD v4 |