Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.175379587C>A | CA343783209 | TNR | c.1928G>T (p.Arg643Met) c.1664G>T (p.Arg555Met) c.1451G>T (p.Arg484Met) c.929G>T (p.Arg310Met) | dbSNP |
1 | g.175379587C>G | CA343783211 | TNR | c.1928G>C (p.Arg643Thr) c.1664G>C (p.Arg555Thr) c.1451G>C (p.Arg484Thr) c.929G>C (p.Arg310Thr) | dbSNP |
1 | g.175379587C>T | CA1255781 | TNR | c.1928G>A (p.Arg643Lys) c.1664G>A (p.Arg555Lys) c.1451G>A (p.Arg484Lys) c.929G>A (p.Arg310Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |