| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.131884939C>T | CA201928 | ENPP1 | n.751C>T c.2320C>T (p.Arg774Cys) c.*1157C>T (n.*1157C>T) c.1210C>T (p.Arg404Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131884939C= | CA1664280567 | ENPP1 | n.751C= c.2320C= (p.Arg774=) c.*1157C= (n.*1157C=) c.1210C= (p.Arg404=) | dbSNP |
| 6 | g.131884939C>A | CA365655861 | ENPP1 | n.751C>A c.2320C>A (p.Arg774Ser) c.*1157C>A (n.*1157C>A) c.1210C>A (p.Arg404Ser) | dbSNP gnomAD v4 |