Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.38496478G>C | CA359539907 | LIFR | c.1789C>G (p.Arg597Gly) n.1952C>G c.167C>G c.1843C>G (p.Arg615Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.38496478G>A | CA123973 | LIFR | c.1789C>T (p.Arg597Ter) n.1952C>T c.167C>T c.1843C>T (p.Arg615Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |