| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.2686216G>A | CA383382645 | CACNA1C,CACNA1C-AS1 | c.5806G>A (p.Gly1936Arg) c.5836G>A (p.Gly1946Arg) c.5911G>A (p.Gly1971Arg) c.5944G>A (p.Gly1982Arg) c.5773G>A (p.Gly1925Arg) c.5821G>A (p.Gly1941Arg) c.6070G>A (p.Gly2024Arg) c.5698G>A (p.Gly1900Arg) c.5731G>A (p.Gly1911Arg) c.5722G>A (p.Gly1908Arg) c.5896G>A (p.Gly1966Arg) n.856G>A n.2234G>A n.861G>A c.5875G>A (p.Gly1959Arg) c.5854G>A (p.Gly1952Arg) c.5755G>A (p.Gly1919Arg) c.5791G>A (p.Gly1931Arg) c.5788G>A (p.Gly1930Arg) c.5782G>A (p.Gly1928Arg) c.5815G>A (p.Gly1939Arg) c.5749G>A (p.Gly1917Arg) c.5359G>A (p.Gly1787Arg) c.5503G>A (p.Gly1835Arg) c.5398G>A (p.Gly1800Arg) c.1804G>A (p.Gly602Arg) c.5434G>A (p.Gly1812Arg) c.5980G>A (p.Gly1994Arg) n.333+3924C>T c.5350G>A (p.Gly1784Arg) c.4795G>A (p.Gly1599Arg) c.2905G>A (p.Gly969Arg) c.6049G>A (p.Gly2017Arg) c.6553G>A (p.Gly2185Arg) c.6448G>A (p.Gly2150Arg) c.6235G>A (p.Gly2079Arg) c.6178G>A (p.Gly2060Arg) c.6094G>A (p.Gly2032Arg) c.6079G>A (p.Gly2027Arg) c.5983G>A (p.Gly1995Arg) c.5974G>A (p.Gly1992Arg) c.5956G>A (p.Gly1986Arg) c.5950G>A (p.Gly1984Arg) c.5923G>A (p.Gly1975Arg) c.5917G>A (p.Gly1973Arg) c.5899G>A (p.Gly1967Arg) c.5893G>A (p.Gly1965Arg) c.5890G>A (p.Gly1964Arg) c.5866G>A (p.Gly1956Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.2686216G>C | CA236625 | CACNA1C,CACNA1C-AS1 | c.5806G>C (p.Gly1936Arg) c.5836G>C (p.Gly1946Arg) c.5911G>C (p.Gly1971Arg) c.5944G>C (p.Gly1982Arg) c.5773G>C (p.Gly1925Arg) c.5821G>C (p.Gly1941Arg) c.6070G>C (p.Gly2024Arg) c.5698G>C (p.Gly1900Arg) c.5731G>C (p.Gly1911Arg) c.5722G>C (p.Gly1908Arg) c.5896G>C (p.Gly1966Arg) n.856G>C n.2234G>C n.861G>C c.5875G>C (p.Gly1959Arg) c.5854G>C (p.Gly1952Arg) c.5755G>C (p.Gly1919Arg) c.5791G>C (p.Gly1931Arg) c.5788G>C (p.Gly1930Arg) c.5782G>C (p.Gly1928Arg) c.5815G>C (p.Gly1939Arg) c.5749G>C (p.Gly1917Arg) c.5359G>C (p.Gly1787Arg) c.5503G>C (p.Gly1835Arg) c.5398G>C (p.Gly1800Arg) c.1804G>C (p.Gly602Arg) c.5434G>C (p.Gly1812Arg) c.5980G>C (p.Gly1994Arg) n.333+3924C>G c.5350G>C (p.Gly1784Arg) c.4795G>C (p.Gly1599Arg) c.2905G>C (p.Gly969Arg) c.6049G>C (p.Gly2017Arg) c.6553G>C (p.Gly2185Arg) c.6448G>C (p.Gly2150Arg) c.6235G>C (p.Gly2079Arg) c.6178G>C (p.Gly2060Arg) c.6094G>C (p.Gly2032Arg) c.6079G>C (p.Gly2027Arg) c.5983G>C (p.Gly1995Arg) c.5974G>C (p.Gly1992Arg) c.5956G>C (p.Gly1986Arg) c.5950G>C (p.Gly1984Arg) c.5923G>C (p.Gly1975Arg) c.5917G>C (p.Gly1973Arg) c.5899G>C (p.Gly1967Arg) c.5893G>C (p.Gly1965Arg) c.5890G>C (p.Gly1964Arg) c.5866G>C (p.Gly1956Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |