| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.31091268G>A | CA8021128 | VKORC1 | c.358C>T (p.Leu120=) c.419C>T (p.Pro140Leu) c.440C>T (p.Pro147Leu) c.248C>T (p.Pro83Leu) c.452C>T (p.Pro151Leu) c.320C>T c.43C>T (p.Leu15=) c.455C>T (p.Pro152Leu) c.283+2044C>T (n.283+2044C>T) c.173+3289C>T (n.173+3289C>T) c.231C>T c.442C>T (p.Leu148=) n.1146C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31091268G= | CA2216889164 | VKORC1 | c.358C= (p.Leu120=) c.419C= (p.Pro140=) c.440C= (p.Pro147=) c.248C= (p.Pro83=) c.452C= (p.Pro151=) c.320C= c.43C= (p.Leu15=) c.455C= (p.Pro152=) c.283+2044C= (n.283+2044C=) c.173+3289C= (n.173+3289C=) c.231C= c.442C= (p.Leu148=) n.1146C= | dbSNP |