| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186285711T>G | CA121750 | F11 | c.1378T>G (p.Phe460Val) c.74T>G c.1216T>G (p.Phe406Val) c.1381T>G (p.Phe461Val) c.1111T>G (p.Phe371Val) c.1333T>G (p.Phe445Val) n.1786T>G n.1852T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186285711T= | CA1519938516 | F11 | c.1378T= (p.Phe460=) c.74T= c.1216T= (p.Phe406=) c.1381T= (p.Phe461=) c.1111T= (p.Phe371=) c.1333T= (p.Phe445=) n.1786T= n.1852T= | dbSNP |
| 4 | g.186285711T>C | CA358943297 | F11 | c.1378T>C (p.Phe460Leu) c.74T>C c.1216T>C (p.Phe406Leu) c.1381T>C (p.Phe461Leu) c.1111T>C (p.Phe371Leu) c.1333T>C (p.Phe445Leu) n.1786T>C n.1852T>C | dbSNP gnomAD v4 |