| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186284209G>A | CA3163934 | F11 | c.1253G>A (p.Gly418Asp) c.1091G>A (p.Gly364Asp) c.1256G>A (p.Gly419Asp) c.986G>A (p.Gly329Asp) c.1208G>A (p.Gly403Asp) n.1661G>A n.1727G>A | dbSNP ExAC gnomAD v2 |
| 4 | g.186284209G>C | CA358942064 | F11 | c.1253G>C (p.Gly418Ala) c.1091G>C (p.Gly364Ala) c.1256G>C (p.Gly419Ala) c.986G>C (p.Gly329Ala) c.1208G>C (p.Gly403Ala) n.1661G>C n.1727G>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.186284209G>T | CA121767 | F11 | c.1253G>T (p.Gly418Val) c.1091G>T (p.Gly364Val) c.1256G>T (p.Gly419Val) c.986G>T (p.Gly329Val) c.1208G>T (p.Gly403Val) n.1661G>T n.1727G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |