| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11972977C>T | CA281008 | PLOD1 | c.2008C>T (p.Arg670Ter) n.1435C>T n.384-2306C>T c.2149C>T (p.Arg717Ter) c.2089C>T (p.Arg697Ter) c.1342C>T (p.Arg448Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11972977C= | CA1141580591 | PLOD1 | c.2008C= (p.Arg670=) n.1435C= n.384-2306C= c.2149C= (p.Arg717=) c.2089C= (p.Arg697=) c.1342C= (p.Arg448=) | dbSNP |