| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51751510A= | CA2036196286 | SCN8A | c.2287A= (p.Ile763=) c.134A= c.291A= n.2415A= c.2320A= (p.Ile774=) | |
| 12 | g.51751510A>C | CA384880045 | SCN8A | c.2287A>C (p.Ile763Leu) c.134A>C c.291A>C n.2415A>C c.2320A>C (p.Ile774Leu) | |
| 12 | g.51751510A>G | CA240328 | SCN8A | c.2287A>G (p.Ile763Val) c.134A>G c.291A>G n.2415A>G c.2320A>G (p.Ile774Val) | ClinVar dbSNP |
| 12 | g.51751510A>T | CA384880046 | SCN8A | c.2287A>T (p.Ile763Phe) c.134A>T c.291A>T n.2415A>T c.2320A>T (p.Ile774Phe) | |
| 12 | g.51751511T>A | CA384880047 | SCN8A | c.2288T>A (p.Ile763Asn) c.135T>A c.292T>A n.2416T>A c.2321T>A (p.Ile774Asn) | |
| 12 | g.51751511T>C | CA384880048 | SCN8A | c.2288T>C (p.Ile763Thr) c.135T>C c.292T>C n.2416T>C c.2321T>C (p.Ile774Thr) | |
| 12 | g.51751511T>G | CA384880049 | SCN8A | c.2288T>G (p.Ile763Ser) c.135T>G c.292T>G n.2416T>G c.2321T>G (p.Ile774Ser) | |
| 12 | g.51751512C>A | CA480061145 | SCN8A | c.2289C>A (p.Ile763=) c.136C>A c.293C>A n.2417C>A c.2322C>A (p.Ile774=) | |
| 12 | g.51751512C= | CA2036196293 | SCN8A | c.2289C= (p.Ile763=) c.136C= c.293C= n.2417C= c.2322C= (p.Ile774=) | |
| 12 | g.51751512C>G | CA384880050 | SCN8A | c.2289C>G (p.Ile763Met) c.136C>G c.293C>G n.2417C>G c.2322C>G (p.Ile774Met) | COSMIC COSMIC |
| 12 | g.51751512C>T | CA480061146 | SCN8A | c.2289C>T (p.Ile763=) c.136C>T c.293C>T n.2417C>T c.2322C>T (p.Ile774=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51751513G>A | CA384880052 | SCN8A | c.2290G>A (p.Val764Ile) c.137G>A c.294G>A n.2418G>A c.2323G>A (p.Val775Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51751513G>C | CA384880053 | SCN8A | c.2290G>C (p.Val764Leu) c.137G>C c.294G>C n.2418G>C c.2323G>C (p.Val775Leu) | |
| 12 | g.51751513G= | CA2036196297 | SCN8A | c.2290G= (p.Val764=) c.137G= c.294G= n.2418G= c.2323G= (p.Val775=) | |
| 12 | g.51751513G>T | CA384880051 | SCN8A | c.2290G>T (p.Val764Phe) c.137G>T c.294G>T n.2418G>T c.2323G>T (p.Val775Phe) | |
| 12 | g.51751514T>A | CA384880056 | SCN8A | c.2291T>A (p.Val764Asp) c.138T>A c.295T>A n.2419T>A c.2324T>A (p.Val775Asp) | |
| 12 | g.51751514T>C | CA384880054 | SCN8A | c.2291T>C (p.Val764Ala) c.138T>C c.295T>C n.2419T>C c.2324T>C (p.Val775Ala) | |
| 12 | g.51751514T>G | CA384880055 | SCN8A | c.2291T>G (p.Val764Gly) c.138T>G c.295T>G n.2419T>G c.2324T>G (p.Val775Gly) | |
| 12 | g.51751515C>A | CA480061148 | SCN8A | c.2292C>A (p.Val764=) c.139C>A c.296C>A n.2420C>A c.2325C>A (p.Val775=) | |
| 12 | g.51751515C= | CA2036196302 | SCN8A | c.2292C= (p.Val764=) c.139C= c.296C= n.2420C= c.2325C= (p.Val775=) | |
| 12 | g.51751515C>G | CA480061149 | SCN8A | c.2292C>G (p.Val764=) c.139C>G c.296C>G n.2420C>G c.2325C>G (p.Val775=) | |
| 12 | g.51751515C>T | CA6571455 | SCN8A | c.2292C>T (p.Val764=) c.139C>T c.296C>T n.2420C>T c.2325C>T (p.Val775=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51751516C>A | CA384880057 | SCN8A | c.2293C>A (p.Leu765Met) c.140C>A c.297C>A n.2421C>A c.2326C>A (p.Leu776Met) | |
| 12 | g.51751516C>G | CA384880058 | SCN8A | c.2293C>G (p.Leu765Val) c.140C>G c.297C>G n.2421C>G c.2326C>G (p.Leu776Val) | |
| 12 | g.51751516C>T | CA480061150 | SCN8A | c.2293C>T (p.Leu765=) c.140C>T c.297C>T n.2421C>T c.2326C>T (p.Leu776=) | |
| 12 | g.51751517T>A | CA384880059 | SCN8A | c.2294T>A (p.Leu765Gln) c.141T>A c.298T>A n.2422T>A c.2327T>A (p.Leu776Gln) | gnomAD v4 |
| 12 | g.51751517T>C | CA384880060 | SCN8A | c.2294T>C (p.Leu765Pro) c.141T>C c.298T>C n.2422T>C c.2327T>C (p.Leu776Pro) | |
| 12 | g.51751517T>G | CA384880061 | SCN8A | c.2294T>G (p.Leu765Arg) c.141T>G c.298T>G n.2422T>G c.2327T>G (p.Leu776Arg) | |
| 12 | g.51751518G>A | CA480061154 | SCN8A | c.2295G>A (p.Leu765=) c.142G>A c.299G>A n.2423G>A c.2328G>A (p.Leu776=) | |
| 12 | g.51751518G>C | CA480061155 | SCN8A | c.2295G>C (p.Leu765=) c.142G>C c.299G>C n.2423G>C c.2328G>C (p.Leu776=) | |
| 12 | g.51751518G>T | CA480061156 | SCN8A | c.2295G>T (p.Leu765=) c.142G>T c.299G>T n.2423G>T c.2328G>T (p.Leu776=) | |
| 12 | g.51751519A>C | CA384880062 | SCN8A | c.2296A>C (p.Asn766His) c.143A>C c.300A>C n.2424A>C c.2329A>C (p.Asn777His) | |
| 12 | g.51751519A>G | CA384880063 | SCN8A | c.2296A>G (p.Asn766Asp) c.143A>G c.300A>G n.2424A>G c.2329A>G (p.Asn777Asp) | |
| 12 | g.51751519A>T | CA384880064 | SCN8A | c.2296A>T (p.Asn766Tyr) c.143A>T c.300A>T n.2424A>T c.2329A>T (p.Asn777Tyr) | |
| 12 | g.51751520A>C | CA384880065 | SCN8A | c.2297A>C (p.Asn766Thr) c.144A>C c.301A>C n.2425A>C c.2330A>C (p.Asn777Thr) | |
| 12 | g.51751520A>G | CA384880066 | SCN8A | c.2297A>G (p.Asn766Ser) c.144A>G c.301A>G n.2425A>G c.2330A>G (p.Asn777Ser) | |
| 12 | g.51751520A>T | CA384880067 | SCN8A | c.2297A>T (p.Asn766Ile) c.144A>T c.301A>T n.2425A>T c.2330A>T (p.Asn777Ile) | |
| 12 | g.51751521T>A | CA384880069 | SCN8A | c.2298T>A (p.Asn766Lys) c.145T>A c.302T>A n.2426T>A c.2331T>A (p.Asn777Lys) | |
| 12 | g.51751521T>C | CA480061158 | SCN8A | c.2298T>C (p.Asn766=) c.145T>C c.302T>C n.2426T>C c.2331T>C (p.Asn777=) | |
| 12 | g.51751521T>G | CA384880068 | SCN8A | c.2298T>G (p.Asn766Lys) c.145T>G c.302T>G n.2426T>G c.2331T>G (p.Asn777Lys) | |
| 12 | g.51751522A>C | CA384880070 | SCN8A | c.2299A>C (p.Thr767Pro) c.146A>C c.303A>C n.2427A>C c.2332A>C (p.Thr778Pro) | |
| 12 | g.51751522A>G | CA384880071 | SCN8A | c.2299A>G (p.Thr767Ala) c.146A>G c.303A>G n.2427A>G c.2332A>G (p.Thr778Ala) | |
| 12 | g.51751522A>T | CA384880072 | SCN8A | c.2299A>T (p.Thr767Ser) c.146A>T c.303A>T n.2427A>T c.2332A>T (p.Thr778Ser) | |
| 12 | g.51751523C>A | CA384880073 | SCN8A | c.2300C>A (p.Thr767Lys) c.147C>A c.304C>A n.2428C>A c.2333C>A (p.Thr778Lys) | |
| 12 | g.51751523C= | CA2036196305 | SCN8A | c.2300C= (p.Thr767=) c.147C= c.304C= n.2428C= c.2333C= (p.Thr778=) | |
| 12 | g.51751523C>G | CA384880074 | SCN8A | c.2300C>G (p.Thr767Arg) c.147C>G c.304C>G n.2428C>G c.2333C>G (p.Thr778Arg) | |
| 12 | g.51751523C>T | CA204472 | SCN8A | c.2300C>T (p.Thr767Ile) c.147C>T c.304C>T n.2428C>T c.2333C>T (p.Thr778Ile) | ClinVar dbSNP |
| 12 | g.51751524A= | CA2036196311 | SCN8A | c.2301A= (p.Thr767=) c.148A= c.305A= n.2429A= c.2334A= (p.Thr778=) | |
| 12 | g.51751524A>C | CA480061160 | SCN8A | c.2301A>C (p.Thr767=) c.148A>C c.305A>C n.2429A>C c.2334A>C (p.Thr778=) | ClinVar dbSNP |
| 12 | g.51751524A>G | CA480061161 | SCN8A | c.2301A>G (p.Thr767=) c.148A>G c.305A>G n.2429A>G c.2334A>G (p.Thr778=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |