| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50626566G>C | CA400240112 | CACNA1G | c.6949G>C (p.Glu2317Gln) c.6568G>C (p.Glu2190Gln) c.6847G>C (p.Glu2283Gln) c.6331G>C (p.Glu2111Gln) c.6601G>C (p.Glu2201Gln) c.6616G>C (p.Glu2206Gln) c.6547G>C (p.Glu2183Gln) c.6736G>C (p.Glu2246Gln) c.6552G>C (n.6552G>C) c.6498G>C (n.6498G>C) c.6588G>C (n.6588G>C) c.6433G>C (p.Glu2145Gln) c.6621G>C (n.6621G>C) c.6916G>C (p.Glu2306Gln) c.6814G>C (p.Glu2272Gln) c.6649G>C (p.Glu2217Gln) c.6400G>C (p.Glu2134Gln) c.6712G>C (p.Glu2238Gln) c.6514G>C (p.Glu2172Gln) c.6567G>C (n.6567G>C) c.6531G>C (n.6531G>C) c.6637G>C (p.Glu2213Gln) c.6679G>C (p.Glu2227Gln) c.6535G>C (p.Glu2179Gln) c.6691G>C (p.Glu2231Gln) c.6595G>C (p.Glu2199Gln) c.6499G>C (p.Glu2167Gln) c.6670G>C (p.Glu2224Gln) c.6760G>C (p.Glu2254Gln) c.6781G>C (p.Glu2261Gln) c.6589G>C (p.Glu2197Gln) c.6562G>C (p.Glu2188Gln) c.6556G>C (p.Glu2186Gln) n.7013G>C n.6980G>C n.6959G>C n.6944G>C n.6890G>C c.6622G>C (p.Glu2208Gln) c.6550G>C (p.Glu2184Gln) c.6835G>C (p.Glu2279Gln) n.7366G>C n.7333G>C n.7312G>C n.7297G>C n.7243G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50626566G>A | CA8653767 | CACNA1G | c.6949G>A (p.Glu2317Lys) c.6568G>A (p.Glu2190Lys) c.6847G>A (p.Glu2283Lys) c.6331G>A (p.Glu2111Lys) c.6601G>A (p.Glu2201Lys) c.6616G>A (p.Glu2206Lys) c.6547G>A (p.Glu2183Lys) c.6736G>A (p.Glu2246Lys) c.6552G>A (n.6552G>A) c.6498G>A (n.6498G>A) c.6588G>A (n.6588G>A) c.6433G>A (p.Glu2145Lys) c.6621G>A (n.6621G>A) c.6916G>A (p.Glu2306Lys) c.6814G>A (p.Glu2272Lys) c.6649G>A (p.Glu2217Lys) c.6400G>A (p.Glu2134Lys) c.6712G>A (p.Glu2238Lys) c.6514G>A (p.Glu2172Lys) c.6567G>A (n.6567G>A) c.6531G>A (n.6531G>A) c.6637G>A (p.Glu2213Lys) c.6679G>A (p.Glu2227Lys) c.6535G>A (p.Glu2179Lys) c.6691G>A (p.Glu2231Lys) c.6595G>A (p.Glu2199Lys) c.6499G>A (p.Glu2167Lys) c.6670G>A (p.Glu2224Lys) c.6760G>A (p.Glu2254Lys) c.6781G>A (p.Glu2261Lys) c.6589G>A (p.Glu2197Lys) c.6562G>A (p.Glu2188Lys) c.6556G>A (p.Glu2186Lys) n.7013G>A n.6980G>A n.6959G>A n.6944G>A n.6890G>A c.6622G>A (p.Glu2208Lys) c.6550G>A (p.Glu2184Lys) c.6835G>A (p.Glu2279Lys) n.7366G>A n.7333G>A n.7312G>A n.7297G>A n.7243G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |