Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21006289G>A | CA044117 | APOB | c.10579C>T (p.Arg3527Trp) c.5869+4444C>T (n.5869+4444C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.21006289G>T | CA425343447 | APOB | c.10579C>A (p.Arg3527=) c.5869+4444C>A (n.5869+4444C>A) | dbSNP gnomAD v4 |
2 | g.21006289G= | CA2493474704 | APOB | c.10579C= (p.Arg3527=) c.5869+4444C= (n.5869+4444C=) | dbSNP |