Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.136198798G>A | CA250570 | LHX3 | c.644C>T (p.Ala215Val) c.629C>T (p.Ala210Val) n.1454C>T c.596C>T (p.Ala199Val) c.557C>T (p.Ala186Val) | ClinVar dbSNP |
9 | g.136198798G= | CA1884106036 | LHX3 | c.644C= (p.Ala215=) c.629C= (p.Ala210=) n.1454C= c.596C= (p.Ala199=) c.557C= (p.Ala186=) | dbSNP |
9 | g.136198798G>T | CA375519478 | LHX3 | c.644C>A (p.Ala215Asp) c.629C>A (p.Ala210Asp) n.1454C>A c.596C>A (p.Ala199Asp) c.557C>A (p.Ala186Asp) | dbSNP gnomAD v4 |