Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21010615G>A | CA022883 | APOB | c.6253C>T (p.Arg2085Ter) c.5869+118C>T (n.5869+118C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.21010615G= | CA2493476779 | APOB | c.6253C= (p.Arg2085=) c.5869+118C= (n.5869+118C=) | dbSNP |
2 | g.21010615G>C | CA346002160 | APOB | c.6253C>G (p.Arg2085Gly) c.5869+118C>G (n.5869+118C>G) | dbSNP |