Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.65536345C>T | CA400675957 | AXIN2 | c.2116G>A (p.Glu706Lys) c.1921G>A (p.Glu641Lys) n.338G>A c.397-7645G>A (n.397-7645G>A) | ClinVar dbSNP gnomAD v2 |
17 | g.65536345C>A | CA250535 | AXIN2 | c.2116G>T (p.Glu706Ter) c.1921G>T (p.Glu641Ter) n.338G>T c.397-7645G>T (n.397-7645G>T) | ClinVar dbSNP |