Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21038086C>A | CA16610575 | APOB | c.384-831G>T (n.384-831G>T) c.252-831G>T (n.252-831G>T) c.409G>T (p.Glu137Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21038086C= | CA2493489338 | APOB | c.384-831G= (n.384-831G=) c.252-831G= (n.252-831G=) c.409G= (p.Glu137=) | dbSNP |