| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.132621535G>A | CA6891795 | P2RX2 | c.1057G>A (p.Gly353Arg) c.985G>A (p.Gly329Arg) c.781G>A (p.Gly261Arg) c.841G>A (p.Gly281Arg) c.955G>A (p.Gly319Arg) c.1076G>A (n.1076G>A) c.*26G>A (n.*26G>A) c.1180G>A (p.Gly394Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.132621535G>C | CA170681 | P2RX2 | c.1057G>C (p.Gly353Arg) c.985G>C (p.Gly329Arg) c.781G>C (p.Gly261Arg) c.841G>C (p.Gly281Arg) c.955G>C (p.Gly319Arg) c.1076G>C (n.1076G>C) c.*26G>C (n.*26G>C) c.1180G>C (p.Gly394Arg) | ClinVar dbSNP |
| 12 | g.132621535G= | CA2072975038 | P2RX2 | c.1057G= (p.Gly353=) c.985G= (p.Gly329=) c.781G= (p.Gly261=) c.841G= (p.Gly281=) c.955G= (p.Gly319=) c.1076G= (n.1076G=) c.*26G= (n.*26G=) c.1180G= (p.Gly394=) | dbSNP |