| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.2607117G>A | CA264828 | CACNA1C | c.3418G>A (p.Glu1140Lys) c.3343G>A (p.Glu1115Lys) c.3433G>A (p.Glu1145Lys) c.3493G>A (p.Glu1165Lys) c.3334G>A (p.Glu1112Lys) c.3508G>A (p.Glu1170Lys) c.3403G>A (p.Glu1135Lys) c.*1950G>A (n.*1950G>A) c.*2963G>A (n.*2963G>A) c.2866G>A (p.Glu956Lys) c.2926G>A (p.Glu976Lys) c.2503G>A (p.Glu835Lys) c.1948G>A (p.Glu650Lys) c.3706G>A (p.Glu1236Lys) c.3511G>A (p.Glu1171Lys) c.3586G>A (p.Glu1196Lys) c.3502G>A (p.Glu1168Lys) | ClinVar dbSNP |
| 12 | g.2607117G>T | CA383374993 | CACNA1C | c.3418G>T (p.Glu1140Ter) c.3343G>T (p.Glu1115Ter) c.3433G>T (p.Glu1145Ter) c.3493G>T (p.Glu1165Ter) c.3334G>T (p.Glu1112Ter) c.3508G>T (p.Glu1170Ter) c.3403G>T (p.Glu1135Ter) c.*1950G>T (n.*1950G>T) c.*2963G>T (n.*2963G>T) c.2866G>T (p.Glu956Ter) c.2926G>T (p.Glu976Ter) c.2503G>T (p.Glu835Ter) c.1948G>T (p.Glu650Ter) c.3706G>T (p.Glu1236Ter) c.3511G>T (p.Glu1171Ter) c.3586G>T (p.Glu1196Ter) c.3502G>T (p.Glu1168Ter) | dbSNP |
| 12 | g.2607117G= | CA2012315058 | CACNA1C | c.3418G= (p.Glu1140=) c.3343G= (p.Glu1115=) c.3433G= (p.Glu1145=) c.3493G= (p.Glu1165=) c.3334G= (p.Glu1112=) c.3508G= (p.Glu1170=) c.3403G= (p.Glu1135=) c.*1950G= (n.*1950G=) c.*2963G= (n.*2963G=) c.2866G= (p.Glu956=) c.2926G= (p.Glu976=) c.2503G= (p.Glu835=) c.1948G= (p.Glu650=) c.3706G= (p.Glu1236=) c.3511G= (p.Glu1171=) c.3586G= (p.Glu1196=) c.3502G= (p.Glu1168=) | dbSNP |