Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21008720G>A | CA065210 | APOB | c.8148C>T (p.Ile2716=) c.5869+2013C>T (n.5869+2013C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21008720G= | CA2493475898 | APOB | c.8148C= (p.Ile2716=) c.5869+2013C= (n.5869+2013C=) | dbSNP |
2 | g.21008720G>C | CA345995339 | APOB | c.8148C>G (p.Ile2716Met) c.5869+2013C>G (n.5869+2013C>G) | dbSNP |