Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.154567707T>C | CA358511545 | FGB | c.605T>C (p.Leu202Pro) n.518T>C n.586T>C c.-53T>C (n.-53T>C) c.428T>C (p.Leu143Pro) c.473T>C (p.Leu158Pro) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.154567707T>A | CA126450 | FGB | c.605T>A (p.Leu202Gln) n.518T>A n.586T>A c.-53T>A (n.-53T>A) c.428T>A (p.Leu143Gln) c.473T>A (p.Leu158Gln) | ClinVar dbSNP |