| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.58560880C>T | CA490483763 | LIPC | c.1068C>T (p.Phe356=) c.885C>T (p.Phe295=) n.925C>T c.1005C>T (p.Phe335=) c.927C>T (p.Phe309=) c.1104C>T (p.Phe368=) | dbSNP gnomAD v4 |
| 15 | g.58560880C>A | CA7585110 | LIPC | c.1068C>A (p.Phe356Leu) c.885C>A (p.Phe295Leu) n.925C>A c.1005C>A (p.Phe335Leu) c.927C>A (p.Phe309Leu) c.1104C>A (p.Phe368Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58560880C= | CA2180390148 | LIPC | c.1068C= (p.Phe356=) c.885C= (p.Phe295=) n.925C= c.1005C= (p.Phe335=) c.927C= (p.Phe309=) c.1104C= (p.Phe368=) | ClinVar dbSNP |