| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.91937067G>A | CA213140 | FBLN5 | c.*225C>T (n.*225C>T) c.91C>T (p.Pro31Ser) c.433C>T (p.Pro145Ser) c.259C>T (p.Pro87Ser) c.*118+65C>T (n.*118+65C>T) c.382C>T (p.Pro128Ser) c.274C>T (p.Pro92Ser) n.505C>T c.310C>T (p.Pro104Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.91937067G>C | CA7312897 | FBLN5 | c.*225C>G (n.*225C>G) c.91C>G (p.Pro31Ala) c.433C>G (p.Pro145Ala) c.259C>G (p.Pro87Ala) c.*118+65C>G (n.*118+65C>G) c.382C>G (p.Pro128Ala) c.274C>G (p.Pro92Ala) n.505C>G c.310C>G (p.Pro104Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |