| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.131851202G>C | CA145331 | ENPP1 | c.491G>C (p.Cys164Ser) c.169G>C c.108+1096G>C n.511G>C | ClinVar dbSNP |
| 6 | g.131851202G>A | CA365661605 | ENPP1 | c.491G>A (p.Cys164Tyr) c.169G>A c.108+1096G>A n.511G>A | ClinVar dbSNP |
| 6 | g.131851202G= | CA1664253745 | ENPP1 | c.491G= (p.Cys164=) c.169G= c.108+1096G= n.511G= | dbSNP |