| 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 |
| 17 | g.50626566G= | CA2264116434 | CACNA1G | c.6949G= (p.Glu2317=) c.6568G= (p.Glu2190=) c.6847G= (p.Glu2283=) c.6331G= (p.Glu2111=) c.6601G= (p.Glu2201=) c.6616G= (p.Glu2206=) c.6547G= (p.Glu2183=) c.6736G= (p.Glu2246=) c.6552G= (n.6552G=) c.6498G= (n.6498G=) c.6588G= (n.6588G=) c.6433G= (p.Glu2145=) c.6621G= (n.6621G=) c.6916G= (p.Glu2306=) c.6814G= (p.Glu2272=) c.6649G= (p.Glu2217=) c.6400G= (p.Glu2134=) c.6712G= (p.Glu2238=) c.6514G= (p.Glu2172=) c.6567G= (n.6567G=) c.6531G= (n.6531G=) c.6637G= (p.Glu2213=) c.6679G= (p.Glu2227=) c.6535G= (p.Glu2179=) c.6691G= (p.Glu2231=) c.6595G= (p.Glu2199=) c.6499G= (p.Glu2167=) c.6670G= (p.Glu2224=) c.6760G= (p.Glu2254=) c.6781G= (p.Glu2261=) c.6589G= (p.Glu2197=) c.6562G= (p.Glu2188=) c.6556G= (p.Glu2186=) n.7013G= n.6980G= n.6959G= n.6944G= n.6890G= c.6622G= (p.Glu2208=) c.6550G= (p.Glu2184=) c.6835G= (p.Glu2279=) n.7366G= n.7333G= n.7312G= n.7297G= n.7243G= | dbSNP dbSNP |