| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.132619443G>T | CA170678 | P2RX2 | c.178G>T (p.Val60Leu) c.106-401G>T (n.106-401G>T) c.110G>T (p.Arg37Leu) | ClinVar dbSNP |
| 12 | g.132619443G>A | CA387357234 | P2RX2 | c.178G>A (p.Val60Ile) c.106-401G>A (n.106-401G>A) c.110G>A (p.Arg37His) | ClinVar dbSNP gnomAD v4 |
| 12 | g.132619443G= | CA2072973716 | P2RX2 | c.178G= (p.Val60=) c.106-401G= (n.106-401G=) c.110G= (p.Arg37=) | dbSNP |