Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.144400250G>A | CA180517 | NOBOX | c.100C>T (p.Arg34Ter) c.652C>T (p.Arg218Ter) c.907C>T (p.Arg303Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.144400250G>C | CA369700079 | NOBOX | c.100C>G (p.Arg34Gly) c.652C>G (p.Arg218Gly) c.907C>G (p.Arg303Gly) | dbSNP gnomAD v3 gnomAD v4 |