| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13235211G>T | CA16620780 | CACNA1A | c.5131C>A (p.Gln1711Lys) c.5137C>A (p.Gln1713Lys) c.550C>A n.355C>A c.292C>A (p.Gln98Lys) n.336C>A c.5134C>A (p.Gln1712Lys) n.1120C>A c.446C>A c.229-175C>A (n.229-175C>A) c.5140C>A (p.Gln1714Lys) c.427C>A (p.Gln143Lys) c.5149C>A (p.Gln1717Lys) c.4993C>A (p.Gln1665Lys) c.328-175C>A n.524C>A c.535C>A (p.Gln179Lys) n.125C>A c.5335C>A (p.Gln1779Lys) c.1189C>A (p.Gln397Lys) c.592C>A (p.Gln198Lys) | ClinVar dbSNP |
| 19 | g.13235211G= | CA2323795590 | CACNA1A | c.5131C= (p.Gln1711=) c.5137C= (p.Gln1713=) c.550C= n.355C= c.292C= (p.Gln98=) n.336C= c.5134C= (p.Gln1712=) n.1120C= c.446C= c.229-175C= (n.229-175C=) c.5140C= (p.Gln1714=) c.427C= (p.Gln143=) c.5149C= (p.Gln1717=) c.4993C= (p.Gln1665=) c.328-175C= n.524C= c.535C= (p.Gln179=) n.125C= c.5335C= (p.Gln1779=) c.1189C= (p.Gln397=) c.592C= (p.Gln198=) | dbSNP |