| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.31091334G>C | CA8021134 | VKORC1 | c.292C>G (p.Arg98Gly) c.353C>G (p.Ala118Gly) c.374C>G (p.Ala125Gly) c.182C>G (p.Ala61Gly) c.386C>G (p.Ala129Gly) c.254C>G c.-24C>G (n.-24C>G) c.389C>G (p.Ala130Gly) c.283+1978C>G (n.283+1978C>G) c.173+3223C>G (n.173+3223C>G) c.165C>G c.376C>G (p.Arg126Gly) n.1080C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.31091334G>A | CA115411 | VKORC1 | c.292C>T (p.Arg98Trp) c.353C>T (p.Ala118Val) c.374C>T (p.Ala125Val) c.182C>T (p.Ala61Val) c.386C>T (p.Ala129Val) c.254C>T c.-24C>T (n.-24C>T) c.389C>T (p.Ala130Val) c.283+1978C>T (n.283+1978C>T) c.173+3223C>T (n.173+3223C>T) c.165C>T c.376C>T (p.Arg126Trp) n.1080C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.31091334G= | CA2216889318 | VKORC1 | c.292C= (p.Arg98=) c.353C= (p.Ala118=) c.374C= (p.Ala125=) c.182C= (p.Ala61=) c.386C= (p.Ala129=) c.254C= c.-24C= (n.-24C=) c.389C= (p.Ala130=) c.283+1978C= (n.283+1978C=) c.173+3223C= (n.173+3223C=) c.165C= c.376C= (p.Arg126=) n.1080C= | dbSNP dbSNP |