Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
12 | g.51751524A>T | CA480061162 | SCN8A | c.2301A>T (p.Thr767=) c.148A>T c.305A>T n.2429A>T c.2334A>T (p.Thr778=) | |
12 | g.51751525C>A | CA384880076 | SCN8A | c.2302C>A (p.Leu768Met) c.149C>A c.306C>A n.2430C>A c.2335C>A (p.Leu779Met) | |
12 | g.51751525C= | CA2036196313 | SCN8A | c.2302C= (p.Leu768=) c.149C= c.306C= n.2430C= c.2335C= (p.Leu779=) | |
12 | g.51751525C>G | CA384880075 | SCN8A | c.2302C>G (p.Leu768Val) c.149C>G c.306C>G n.2430C>G c.2335C>G (p.Leu779Val) | |
12 | g.51751525C>T | CA480061163 | SCN8A | c.2302C>T (p.Leu768=) c.149C>T c.306C>T n.2430C>T c.2335C>T (p.Leu779=) | ClinVar dbSNP gnomAD v4 |
12 | g.51751526T>A | CA384880077 | SCN8A | c.2303T>A (p.Leu768Gln) c.150T>A c.307T>A n.2431T>A c.2336T>A (p.Leu779Gln) | |
12 | g.51751526T>C | CA384880078 | SCN8A | c.2303T>C (p.Leu768Pro) c.150T>C c.307T>C n.2431T>C c.2336T>C (p.Leu779Pro) | |
12 | g.51751526T>G | CA384880079 | SCN8A | c.2303T>G (p.Leu768Arg) c.150T>G c.307T>G n.2431T>G c.2336T>G (p.Leu779Arg) | |
12 | g.51751527G>A | CA480061164 | SCN8A | c.2304G>A (p.Leu768=) c.151G>A c.308G>A n.2432G>A c.2337G>A (p.Leu779=) | gnomAD v4 |
12 | g.51751527G>C | CA480061166 | SCN8A | c.2304G>C (p.Leu768=) c.151G>C c.308G>C n.2432G>C c.2337G>C (p.Leu779=) | |
12 | g.51751527G>T | CA480061165 | SCN8A | c.2304G>T (p.Leu768=) c.151G>T c.308G>T n.2432G>T c.2337G>T (p.Leu779=) | |
12 | g.51751528T>A | CA384880080 | SCN8A | c.2305T>A (p.Phe769Ile) c.152T>A c.309T>A n.2433T>A c.2338T>A (p.Phe780Ile) | |
12 | g.51751528T>C | CA384880081 | SCN8A | c.2305T>C (p.Phe769Leu) c.152T>C c.309T>C n.2433T>C c.2338T>C (p.Phe780Leu) | |
12 | g.51751528T>G | CA384880082 | SCN8A | c.2305T>G (p.Phe769Val) c.152T>G c.309T>G n.2433T>G c.2338T>G (p.Phe780Val) | |
12 | g.51751529T>A | CA384880083 | SCN8A | c.2306T>A (p.Phe769Tyr) c.153T>A c.310T>A n.2434T>A c.2339T>A (p.Phe780Tyr) | |
12 | g.51751529T>C | CA384880085 | SCN8A | c.2306T>C (p.Phe769Ser) c.153T>C c.310T>C n.2434T>C c.2339T>C (p.Phe780Ser) | |
12 | g.51751529T>G | CA384880084 | SCN8A | c.2306T>G (p.Phe769Cys) c.153T>G c.310T>G n.2434T>G c.2339T>G (p.Phe780Cys) | |
12 | g.51751530T>A | CA384880086 | SCN8A | c.2307T>A (p.Phe769Leu) c.154T>A c.311T>A n.2435T>A c.2340T>A (p.Phe780Leu) | |
12 | g.51751530T>C | CA480061167 | SCN8A | c.2307T>C (p.Phe769=) c.154T>C c.311T>C n.2435T>C c.2340T>C (p.Phe780=) | gnomAD v4 |
12 | g.51751530T>G | CA384880087 | SCN8A | c.2307T>G (p.Phe769Leu) c.154T>G c.311T>G n.2435T>G c.2340T>G (p.Phe780Leu) | |
12 | g.51751531A>C | CA384880088 | SCN8A | c.2308A>C (p.Met770Leu) c.155A>C c.312A>C n.2436A>C c.2341A>C (p.Met781Leu) | |
12 | g.51751531A>G | CA384880089 | SCN8A | c.2308A>G (p.Met770Val) c.155A>G c.312A>G n.2436A>G c.2341A>G (p.Met781Val) | |
12 | g.51751531A>T | CA384880090 | SCN8A | c.2308A>T (p.Met770Leu) c.155A>T c.312A>T n.2436A>T c.2341A>T (p.Met781Leu) | |
12 | g.51751532T>A | CA384880091 | SCN8A | c.2309T>A (p.Met770Lys) c.156T>A c.313T>A n.2437T>A c.2342T>A (p.Met781Lys) | |
12 | g.51751532T>C | CA384880092 | SCN8A | c.2309T>C (p.Met770Thr) c.156T>C c.313T>C n.2437T>C c.2342T>C (p.Met781Thr) | |
12 | g.51751532T>G | CA384880093 | SCN8A | c.2309T>G (p.Met770Arg) c.156T>G c.313T>G n.2437T>G c.2342T>G (p.Met781Arg) | |
12 | g.51751533G>A | CA384880094 | SCN8A | c.2310G>A (p.Met770Ile) c.157G>A c.314G>A n.2438G>A c.2343G>A (p.Met781Ile) | |
12 | g.51751533G>C | CA384880095 | SCN8A | c.2310G>C (p.Met770Ile) c.157G>C c.314G>C n.2438G>C c.2343G>C (p.Met781Ile) | |
12 | g.51751533G>T | CA384880096 | SCN8A | c.2310G>T (p.Met770Ile) c.157G>T c.314G>T n.2438G>T c.2343G>T (p.Met781Ile) | |
12 | g.51751534G>A | CA384880099 | SCN8A | c.2311G>A (p.Ala771Thr) c.158G>A c.315G>A n.2439G>A c.2344G>A (p.Ala782Thr) | |
12 | g.51751534G>C | CA384880098 | SCN8A | c.2311G>C (p.Ala771Pro) c.158G>C c.315G>C n.2439G>C c.2344G>C (p.Ala782Pro) | |
12 | g.51751534G>T | CA384880097 | SCN8A | c.2311G>T (p.Ala771Ser) c.158G>T c.315G>T n.2439G>T c.2344G>T (p.Ala782Ser) | |
12 | g.51751535C>A | CA384880100 | SCN8A | c.2312C>A (p.Ala771Glu) c.159C>A c.316C>A n.2440C>A c.2345C>A (p.Ala782Glu) | |
12 | g.51751535C>G | CA384880101 | SCN8A | c.2312C>G (p.Ala771Gly) c.159C>G c.316C>G n.2440C>G c.2345C>G (p.Ala782Gly) | |
12 | g.51751535C>T | CA384880102 | SCN8A | c.2312C>T (p.Ala771Val) c.159C>T c.316C>T n.2440C>T c.2345C>T (p.Ala782Val) | |
12 | g.51751536A>C | CA480061170 | SCN8A | c.2313A>C (p.Ala771=) c.160A>C c.317A>C n.2441A>C c.2346A>C (p.Ala782=) | |
12 | g.51751536A>G | CA480061169 | SCN8A | c.2313A>G (p.Ala771=) c.160A>G c.317A>G n.2441A>G c.2346A>G (p.Ala782=) | |
12 | g.51751536A>T | CA480061168 | SCN8A | c.2313A>T (p.Ala771=) c.160A>T c.317A>T n.2441A>T c.2346A>T (p.Ala782=) | |
12 | g.51751537A>C | CA384880103 | SCN8A | c.2314A>C (p.Met772Leu) c.161A>C c.318A>C n.2442A>C c.2347A>C (p.Met783Leu) | |
12 | g.51751537A>G | CA384880104 | SCN8A | c.2314A>G (p.Met772Val) c.161A>G c.318A>G n.2442A>G c.2347A>G (p.Met783Val) | ClinVar |
12 | g.51751537A>T | CA384880105 | SCN8A | c.2314A>T (p.Met772Leu) c.161A>T c.318A>T n.2442A>T c.2347A>T (p.Met783Leu) | |
12 | g.51751538T>A | CA384880106 | SCN8A | c.2315T>A (p.Met772Lys) c.162T>A c.319T>A n.2443T>A c.2348T>A (p.Met783Lys) | |
12 | g.51751538T>C | CA384880107 | SCN8A | c.2315T>C (p.Met772Thr) c.162T>C c.319T>C n.2443T>C c.2348T>C (p.Met783Thr) | |
12 | g.51751538T>G | CA384880108 | SCN8A | c.2315T>G (p.Met772Arg) c.162T>G c.319T>G n.2443T>G c.2348T>G (p.Met783Arg) | |
12 | g.51751539G>A | CA384880109 | SCN8A | c.2316G>A (p.Met772Ile) c.163G>A c.320G>A n.2444G>A c.2349G>A (p.Met783Ile) | |
12 | g.51751539G>C | CA384880110 | SCN8A | c.2316G>C (p.Met772Ile) c.163G>C c.320G>C n.2444G>C c.2349G>C (p.Met783Ile) | |
12 | g.51751539G>T | CA384880111 | SCN8A | c.2316G>T (p.Met772Ile) c.163G>T c.320G>T n.2444G>T c.2349G>T (p.Met783Ile) |