| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.131860504C>T | CA16618246 | ENPP1 | c.913C>T (p.Pro305Ser) c.530C>T c.404C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131860504C>A | CA342717 | ENPP1 | c.913C>A (p.Pro305Thr) c.530C>A c.404C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131860504C= | CA1664259200 | ENPP1 | c.913C= (p.Pro305=) c.530C= c.404C= | dbSNP |