| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.91891236C>T | CA342101 | FBLN5 | c.*570G>A (n.*570G>A) c.436G>A (p.Gly146Arg) c.778G>A (p.Gly260Arg) c.604G>A (p.Gly202Arg) n.524G>A c.*447G>A (n.*447G>A) c.*343G>A (n.*343G>A) c.727G>A (p.Gly243Arg) c.619G>A (p.Gly207Arg) c.655G>A (p.Gly219Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91891236C= | CA2155159010 | FBLN5 | c.*570G= (n.*570G=) c.436G= (p.Gly146=) c.778G= (p.Gly260=) c.604G= (p.Gly202=) n.524G= c.*447G= (n.*447G=) c.*343G= (n.*343G=) c.727G= (p.Gly243=) c.619G= (p.Gly207=) c.655G= (p.Gly219=) | dbSNP |