| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.2665600C>G | CA346874 | CACNA1C | c.4493C>G (p.Ala1498Gly) c.4418C>G (p.Ala1473Gly) c.4385C>G (p.Ala1462Gly) n.560C>G c.4460C>G (p.Ala1487Gly) c.4508C>G (p.Ala1503Gly) c.4652C>G (p.Ala1551Gly) c.4409C>G (p.Ala1470Gly) c.4583C>G (p.Ala1528Gly) n.921C>G c.4562C>G (p.Ala1521Gly) c.4484C>G (p.Ala1495Gly) c.4478C>G (p.Ala1493Gly) c.4469C>G (p.Ala1490Gly) c.4502C>G (p.Ala1501Gly) c.4379C>G (p.Ala1460Gly) c.3941C>G (p.Ala1314Gly) c.4085C>G (p.Ala1362Gly) c.491C>G (p.Ala164Gly) c.3908C>G (p.Ala1303Gly) c.3662C>G (p.Ala1221Gly) c.3107C>G (p.Ala1036Gly) c.1217C>G (p.Ala406Gly) c.4865C>G (p.Ala1622Gly) c.4781C>G (p.Ala1594Gly) c.4553C>G (p.Ala1518Gly) c.4670C>G (p.Ala1557Gly) c.4661C>G (p.Ala1554Gly) c.4586C>G (p.Ala1529Gly) c.4637C>G (p.Ala1546Gly) c.4547C>G (p.Ala1516Gly) c.4580C>G (p.Ala1527Gly) c.4577C>G (p.Ala1526Gly) | ClinVar dbSNP |
| 12 | g.2665600C= | CA2012341422 | CACNA1C | c.4493C= (p.Ala1498=) c.4418C= (p.Ala1473=) c.4385C= (p.Ala1462=) n.560C= c.4460C= (p.Ala1487=) c.4508C= (p.Ala1503=) c.4652C= (p.Ala1551=) c.4409C= (p.Ala1470=) c.4583C= (p.Ala1528=) n.921C= c.4562C= (p.Ala1521=) c.4484C= (p.Ala1495=) c.4478C= (p.Ala1493=) c.4469C= (p.Ala1490=) c.4502C= (p.Ala1501=) c.4379C= (p.Ala1460=) c.3941C= (p.Ala1314=) c.4085C= (p.Ala1362=) c.491C= (p.Ala164=) c.3908C= (p.Ala1303=) c.3662C= (p.Ala1221=) c.3107C= (p.Ala1036=) c.1217C= (p.Ala406=) c.4865C= (p.Ala1622=) c.4781C= (p.Ala1594=) c.4553C= (p.Ala1518=) c.4670C= (p.Ala1557=) c.4661C= (p.Ala1554=) c.4586C= (p.Ala1529=) c.4637C= (p.Ala1546=) c.4547C= (p.Ala1516=) c.4580C= (p.Ala1527=) c.4577C= (p.Ala1526=) | dbSNP |