Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.153813428C>A | CA342525280 | GATAD2B | c.1241G>T (p.Arg414Leu) c.1193G>T (p.Arg398Leu) c.495G>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.153813428C>T | CA16603415 | GATAD2B | c.1241G>A (p.Arg414Gln) c.1193G>A (p.Arg398Gln) c.495G>A | ClinVar dbSNP gnomAD v4 COSMIC |