| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.58545811A>C | CA392612369 | LIPC | c.644A>C (p.Asn215Thr) c.461A>C (p.Asn154Thr) n.501A>C n.408A>C c.581A>C (p.Asn194Thr) c.503A>C (p.Asn168Thr) c.680A>C (p.Asn227Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.58545811A>G | CA7584949 | LIPC | c.644A>G (p.Asn215Ser) c.461A>G (p.Asn154Ser) n.501A>G n.408A>G c.581A>G (p.Asn194Ser) c.503A>G (p.Asn168Ser) c.680A>G (p.Asn227Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |