Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.58563549C>T | CA210843 | LIPC | c.1214C>T (p.Thr405Met) c.1031C>T (p.Thr344Met) n.1071C>T c.1151C>T (p.Thr384Met) c.1073C>T (p.Thr358Met) c.1250C>T (p.Thr417Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.58563549C= | CA2180393430 | LIPC | c.1214C= (p.Thr405=) c.1031C= (p.Thr344=) n.1071C= c.1151C= (p.Thr384=) c.1073C= (p.Thr358=) c.1250C= (p.Thr417=) | dbSNP |