Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.31091243A>C | CA115415 | VKORC1 | c.383T>G (p.Leu128Arg) c.444T>G (p.Ala148=) c.465T>G (p.Ala155=) c.273T>G (p.Ala91=) c.477T>G (p.Ala159=) c.345T>G c.68T>G (p.Leu23Arg) c.480T>G (p.Ala160=) c.283+2069T>G (n.283+2069T>G) c.173+3314T>G (n.173+3314T>G) c.256T>G c.467T>G (p.Leu156Arg) n.1171T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.31091243A= | CA2216889106 | VKORC1 | c.383T= (p.Leu128=) c.444T= (p.Ala148=) c.465T= (p.Ala155=) c.273T= (p.Ala91=) c.477T= (p.Ala159=) c.345T= c.68T= (p.Leu23=) c.480T= (p.Ala160=) c.283+2069T= (n.283+2069T=) c.173+3314T= (n.173+3314T=) c.256T= c.467T= (p.Leu156=) n.1171T= | dbSNP |