| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.91937114C>T | CA213138 | FBLN5 | c.*178G>A (n.*178G>A) c.44G>A (p.Arg15Gln) c.386G>A (p.Arg129Gln) c.212G>A (p.Arg71Gln) c.*118+18G>A (n.*118+18G>A) c.335G>A (p.Arg112Gln) c.227G>A (p.Arg76Gln) n.458G>A c.263G>A (p.Arg88Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.91937114C= | CA2155180574 | FBLN5 | c.*178G= (n.*178G=) c.44G= (p.Arg15=) c.386G= (p.Arg129=) c.212G= (p.Arg71=) c.*118+18G= (n.*118+18G=) c.335G= (p.Arg112=) c.227G= (p.Arg76=) n.458G= c.263G= (p.Arg88=) | dbSNP |