Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.46267540G>A | CA118060 | LRRC41,RAD54L | c.973G>A (p.Gly325Arg) c.*641G>A (n.*641G>A) n.36G>A c.699G>A c.434G>A c.130G>A (p.Gly44Arg) n.428G>A c.638C>T (p.Pro213Leu) c.433G>A (p.Gly145Arg) c.199G>A (p.Gly67Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.46267540G>C | CA340192433 | LRRC41,RAD54L | c.973G>C (p.Gly325Arg) c.*641G>C (n.*641G>C) n.36G>C c.699G>C c.434G>C c.130G>C (p.Gly44Arg) n.428G>C c.638C>G (p.Pro213Arg) c.433G>C (p.Gly145Arg) c.199G>C (p.Gly67Arg) | dbSNP |