Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21006681G>T | CA022739 | APOB | c.10187C>A (p.Ala3396Asp) c.5869+4052C>A (n.5869+4052C>A) | ClinVar dbSNP |
2 | g.21006681G= | CA2493474913 | APOB | c.10187C= (p.Ala3396=) c.5869+4052C= (n.5869+4052C=) | dbSNP |
2 | g.21006681G>A | CA345987152 | APOB | c.10187C>T (p.Ala3396Val) c.5869+4052C>T (n.5869+4052C>T) | dbSNP gnomAD v4 |