| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.131890435A>G | CA4002615 | ENPP1 | n.1133A>G c.2702A>G (p.Tyr901Cys) c.*1539A>G (n.*1539A>G) c.1592A>G (p.Tyr531Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.131890435A>C | CA123292 | ENPP1 | n.1133A>C c.2702A>C (p.Tyr901Ser) c.*1539A>C (n.*1539A>C) c.1592A>C (p.Tyr531Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |