| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.154569680C>T | CA3114724 | FGB | c.1125C>T (p.Tyr375=) n.939+373C>T c.468C>T (p.Tyr156=) c.948C>T (p.Tyr316=) c.993C>T (p.Tyr331=) c.825C>T (p.Tyr275=) c.1116C>T (p.Tyr372=) c.1080+45C>T (n.1080+45C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154569680C= | CA1504935470 | FGB | c.1125C= (p.Tyr375=) n.939+373C= c.468C= (p.Tyr156=) c.948C= (p.Tyr316=) c.993C= (p.Tyr331=) c.825C= (p.Tyr275=) c.1116C= (p.Tyr372=) c.1080+45C= (n.1080+45C=) | dbSNP |