Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.157052415T>C | CA3531533 | HAVCR1 | c.619A>G (p.Thr207Ala) c.148A>G (p.Thr50Ala) n.961A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.157052415T= | CA1594001649 | HAVCR1 | c.619A= (p.Thr207=) c.148A= (p.Thr50=) n.961A= | dbSNP |
5 | g.157052415T>G | CA361959904 | HAVCR1 | c.619A>C (p.Thr207Pro) c.148A>C (p.Thr50Pro) n.961A>C | dbSNP gnomAD v4 |