| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.13637835C>T | CA2266241 | FBLN2 | c.3612C>T (p.Asp1204=) c.3471C>T (p.Asp1157=) c.254-262C>T c.135+263C>T c.3495C>T (p.Asp1165=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.13637835C>G | CA351533706 | FBLN2 | c.3612C>G (p.Asp1204Glu) c.3471C>G (p.Asp1157Glu) c.254-262C>G c.135+263C>G c.3495C>G (p.Asp1165Glu) | dbSNP |