| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.11787112G>A | CA1533758 | LPIN1 | c.1588G>A (p.Val530Met) c.1480G>A (p.Val494Met) c.1606G>A (p.Val536Met) n.1073G>A c.1498G>A (p.Val500Met) c.1735G>A (p.Val579Met) n.66G>A c.1627G>A (p.Val543Met) c.1732G>A (p.Val578Met) c.1585G>A (p.Val529Met) c.1678G>A (p.Val560Met) n.1576G>A c.1657G>A (p.Val553Met) n.1529G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.11787112G>T | CA42606959 | LPIN1 | c.1588G>T (p.Val530Leu) c.1480G>T (p.Val494Leu) c.1606G>T (p.Val536Leu) n.1073G>T c.1498G>T (p.Val500Leu) c.1735G>T (p.Val579Leu) n.66G>T c.1627G>T (p.Val543Leu) c.1732G>T (p.Val578Leu) c.1585G>T (p.Val529Leu) c.1678G>T (p.Val560Leu) n.1576G>T c.1657G>T (p.Val553Leu) n.1529G>T | dbSNP gnomAD v4 |