| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48447077A>T | CA2175495962 | FBN1 | c.5672-255T>A (n.5672-255T>A) n.4346-255T>A c.671-255T>A (n.671-255T>A) c.*1435-255T>A (n.*1435-255T>A) c.979-255T>A | dbSNP |
| 15 | g.48447077A>G | CA15846605 | FBN1 | c.5672-255T>C (n.5672-255T>C) n.4346-255T>C c.671-255T>C (n.671-255T>C) c.*1435-255T>C (n.*1435-255T>C) c.979-255T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |