| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13262781G>A | CA16620787 | CACNA1A | c.4042C>T (p.Arg1348Trp) c.4048C>T (p.Arg1350Trp) c.4045C>T (p.Arg1349Trp) n.31C>T n.534C>T n.730C>T n.508C>T c.4054C>T (p.Arg1352Trp) n.364C>T c.3904C>T (p.Arg1302Trp) c.4240C>T (p.Arg1414Trp) c.100C>T (p.Arg34Trp) n.121C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13262781G= | CA2323808979 | CACNA1A | c.4042C= (p.Arg1348=) c.4048C= (p.Arg1350=) c.4045C= (p.Arg1349=) n.31C= n.534C= n.730C= n.508C= c.4054C= (p.Arg1352=) n.364C= c.3904C= (p.Arg1302=) c.4240C= (p.Arg1414=) c.100C= (p.Arg34=) n.121C= | dbSNP |