| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.2679713G>A | CA285398 | CACNA1C,CACNA1C-AS1 | c.5436G>A (p.Thr1812=) c.5361G>A (p.Thr1787=) c.5328G>A (p.Thr1776=) c.5403G>A (p.Thr1801=) c.5451G>A (p.Thr1817=) c.5595G>A (p.Thr1865=) c.5352G>A (p.Thr1784=) c.5526G>A (p.Thr1842=) n.1864G>A n.491G>A c.5505G>A (p.Thr1835=) c.5484G>A (p.Thr1828=) c.5385G>A (p.Thr1795=) c.5421G>A (p.Thr1807=) c.5418G>A (p.Thr1806=) c.5412G>A (p.Thr1804=) c.5445G>A (p.Thr1815=) c.5379G>A (p.Thr1793=) c.4884G>A (p.Thr1628=) c.5028G>A (p.Thr1676=) c.1434G>A (p.Thr478=) c.4851G>A (p.Thr1617=) n.334-1816C>T c.4662G>A (p.Thr1554=) c.4107G>A (p.Thr1369=) c.2217G>A (p.Thr739=) c.5865G>A (p.Thr1955=) c.5808G>A (p.Thr1936=) c.5724G>A (p.Thr1908=) c.5496G>A (p.Thr1832=) c.5613G>A (p.Thr1871=) c.5604G>A (p.Thr1868=) c.5586G>A (p.Thr1862=) c.5580G>A (p.Thr1860=) c.5553G>A (p.Thr1851=) c.5547G>A (p.Thr1849=) c.5529G>A (p.Thr1843=) c.5523G>A (p.Thr1841=) c.5520G>A (p.Thr1840=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.2679713G>C | CA478088073 | CACNA1C,CACNA1C-AS1 | c.5436G>C (p.Thr1812=) c.5361G>C (p.Thr1787=) c.5328G>C (p.Thr1776=) c.5403G>C (p.Thr1801=) c.5451G>C (p.Thr1817=) c.5595G>C (p.Thr1865=) c.5352G>C (p.Thr1784=) c.5526G>C (p.Thr1842=) n.1864G>C n.491G>C c.5505G>C (p.Thr1835=) c.5484G>C (p.Thr1828=) c.5385G>C (p.Thr1795=) c.5421G>C (p.Thr1807=) c.5418G>C (p.Thr1806=) c.5412G>C (p.Thr1804=) c.5445G>C (p.Thr1815=) c.5379G>C (p.Thr1793=) c.4884G>C (p.Thr1628=) c.5028G>C (p.Thr1676=) c.1434G>C (p.Thr478=) c.4851G>C (p.Thr1617=) n.334-1816C>G c.4662G>C (p.Thr1554=) c.4107G>C (p.Thr1369=) c.2217G>C (p.Thr739=) c.5865G>C (p.Thr1955=) c.5808G>C (p.Thr1936=) c.5724G>C (p.Thr1908=) c.5496G>C (p.Thr1832=) c.5613G>C (p.Thr1871=) c.5604G>C (p.Thr1868=) c.5586G>C (p.Thr1862=) c.5580G>C (p.Thr1860=) c.5553G>C (p.Thr1851=) c.5547G>C (p.Thr1849=) c.5529G>C (p.Thr1843=) c.5523G>C (p.Thr1841=) c.5520G>C (p.Thr1840=) | dbSNP |