| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.131858748G>A | CA4002000 | ENPP1 | c.795+1G>A (n.795+1G>A) c.412+1G>A c.286+1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.131858748G= | CA1664257254 | ENPP1 | c.795+1G= (n.795+1G=) c.412+1G= c.286+1G= | dbSNP |
| 6 | g.131858748G>C | CA365666403 | ENPP1 | c.795+1G>C (n.795+1G>C) c.412+1G>C c.286+1G>C | dbSNP gnomAD v4 |