| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13212459del | CA16620774 | CACNA1A | c.6114del (p.Met2038IlefsTer?) c.6120del (p.Met2040IlefsTer?) c.1275del (p.Met425IlefsTer?) c.6117del (p.Met2039IlefsTer?) c.984del (p.Met328IlefsTer?) c.6123del (p.Met2041IlefsTer?) n.1031del c.644del (n.644del) c.6132del (p.Met2044IlefsTer?) c.5976del (p.Met1992IlefsTer?) c.6318del (p.Met2106IlefsTer?) c.2172del (p.Met724IlefsTer?) c.1575del (p.Met525IlefsTer?) | ClinVar dbSNP |
| 19 | g.13212459C= | CA3233783943 | CACNA1A | c.6114G= (p.Met2038=) c.6120G= (p.Met2040=) c.1275G= (p.Met425=) c.6117G= (p.Met2039=) c.984G= (p.Met328=) c.6123G= (p.Met2041=) n.1031G= c.644G= (n.644G=) c.6132G= (p.Met2044=) c.5976G= (p.Met1992=) c.6318G= (p.Met2106=) c.2172G= (p.Met724=) c.1575G= (p.Met525=) | dbSNP |