| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.91891334A>G | CA213142 | FBLN5 | c.*472T>C (n.*472T>C) c.338T>C (p.Ile113Thr) c.680T>C (p.Ile227Thr) c.506T>C (p.Ile169Thr) n.426T>C c.*349T>C (n.*349T>C) c.*245T>C (n.*245T>C) c.629T>C (p.Ile210Thr) c.521T>C (p.Ile174Thr) c.557T>C (p.Ile186Thr) | ClinVar dbSNP |
| 14 | g.91891334A= | CA2155159123 | FBLN5 | c.*472T= (n.*472T=) c.338T= (p.Ile113=) c.680T= (p.Ile227=) c.506T= (p.Ile169=) n.426T= c.*349T= (n.*349T=) c.*245T= (n.*245T=) c.629T= (p.Ile210=) c.521T= (p.Ile174=) c.557T= (p.Ile186=) | dbSNP |
| 14 | g.91891334A>T | CA390643053 | FBLN5 | c.*472T>A (n.*472T>A) c.338T>A (p.Ile113Asn) c.680T>A (p.Ile227Asn) c.506T>A (p.Ile169Asn) n.426T>A c.*349T>A (n.*349T>A) c.*245T>A (n.*245T>A) c.629T>A (p.Ile210Asn) c.521T>A (p.Ile174Asn) c.557T>A (p.Ile186Asn) | dbSNP |