| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186284209G>A | CA3163934 | F11 | c.1253G>A (p.Gly418Asp) c.1256G>A (p.Gly419Asp) c.986G>A (p.Gly329Asp) c.1208G>A (p.Gly403Asp) n.1661G>A n.1727G>A c.1091G>A (p.Gly364Asp) | dbSNP ExAC gnomAD |
| 4 | g.186284209G>T | CA121767 | F11 | c.1253G>T (p.Gly418Val) c.1256G>T (p.Gly419Val) c.986G>T (p.Gly329Val) c.1208G>T (p.Gly403Val) n.1661G>T n.1727G>T c.1091G>T (p.Gly364Val) | ClinVar dbSNP gnomAD |