| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.91877501C>A | CA342095 | FBLN5 | c.*1137G>T (n.*1137G>T) c.1003G>T (p.Glu335Ter) n.986G>T c.1345G>T (p.Glu449Ter) c.1171G>T (p.Glu391Ter) n.1091G>T c.*1014G>T (n.*1014G>T) c.*910G>T (n.*910G>T) c.1294G>T (p.Glu432Ter) n.297G>T c.1186G>T (p.Glu396Ter) c.1222G>T (p.Glu408Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.91877501C= | CA2155139325 | FBLN5 | c.*1137G= (n.*1137G=) c.1003G= (p.Glu335=) n.986G= c.1345G= (p.Glu449=) c.1171G= (p.Glu391=) n.1091G= c.*1014G= (n.*1014G=) c.*910G= (n.*910G=) c.1294G= (p.Glu432=) n.297G= c.1186G= (p.Glu396=) c.1222G= (p.Glu408=) | dbSNP |