| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13231717G>A | CA16620778 | CACNA1A | c.5393C>T (p.Ser1798Leu) c.5399C>T (p.Ser1800Leu) c.812C>T n.617C>T c.554C>T (p.Ser185Leu) c.5396C>T (p.Ser1799Leu) n.1382C>T c.488C>T (p.Ser163Leu) c.5402C>T (p.Ser1801Leu) c.20C>T (p.Ser7Leu) c.5411C>T (p.Ser1804Leu) c.5255C>T (p.Ser1752Leu) c.587C>T n.786C>T c.797C>T (p.Ser266Leu) n.387C>T c.5597C>T (p.Ser1866Leu) c.1451C>T (p.Ser484Leu) c.854C>T (p.Ser285Leu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13231717G>T | CA404334248 | CACNA1A | c.5393C>A (p.Ser1798Ter) c.5399C>A (p.Ser1800Ter) c.812C>A n.617C>A c.554C>A (p.Ser185Ter) c.5396C>A (p.Ser1799Ter) n.1382C>A c.488C>A (p.Ser163Ter) c.5402C>A (p.Ser1801Ter) c.20C>A (p.Ser7Ter) c.5411C>A (p.Ser1804Ter) c.5255C>A (p.Ser1752Ter) c.587C>A n.786C>A c.797C>A (p.Ser266Ter) n.387C>A c.5597C>A (p.Ser1866Ter) c.1451C>A (p.Ser484Ter) c.854C>A (p.Ser285Ter) | dbSNP gnomAD v4 |
| 19 | g.13231717G= | CA2323793780 | CACNA1A | c.5393C= (p.Ser1798=) c.5399C= (p.Ser1800=) c.812C= n.617C= c.554C= (p.Ser185=) c.5396C= (p.Ser1799=) n.1382C= c.488C= (p.Ser163=) c.5402C= (p.Ser1801=) c.20C= (p.Ser7=) c.5411C= (p.Ser1804=) c.5255C= (p.Ser1752=) c.587C= n.786C= c.797C= (p.Ser266=) n.387C= c.5597C= (p.Ser1866=) c.1451C= (p.Ser484=) c.854C= (p.Ser285=) | dbSNP |