Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38894836del | CA2577554804 | SCN11A | c.2535del (p.Phe845LeufsTer2) c.2355del (p.Phe785LeufsTer2) c.2579del (n.2579del) c.2154del (p.Phe718LeufsTer2) c.1872del (p.Phe624LeufsTer2) c.1083del (p.Phe361LeufsTer2) c.2910del (p.Phe970LeufsTer2) c.2337del (p.Phe779LeufsTer2) c.2262del (p.Phe754LeufsTer2) c.939del (p.Phe313LeufsTer2) | gnomAD v4 |
3 | g.38894836A= | CA1358718247 | SCN11A | c.2532T= (p.Cys844=) c.2352T= (p.Cys784=) c.2576T= (n.2576T=) c.2151T= (p.Cys717=) c.1869T= (p.Cys623=) c.1080T= (p.Cys360=) c.2907T= (p.Cys969=) c.2334T= (p.Cys778=) c.2259T= (p.Cys753=) c.936T= (p.Cys312=) | |
3 | g.38894836A>C | CA352174945 | SCN11A | c.2532T>G (p.Cys844Trp) c.2352T>G (p.Cys784Trp) c.2576T>G (n.2576T>G) c.2151T>G (p.Cys717Trp) c.1869T>G (p.Cys623Trp) c.1080T>G (p.Cys360Trp) c.2907T>G (p.Cys969Trp) c.2334T>G (p.Cys778Trp) c.2259T>G (p.Cys753Trp) c.936T>G (p.Cys312Trp) | |
3 | g.38894836A>G | CA433336153 | SCN11A | c.2532T>C (p.Cys844=) c.2352T>C (p.Cys784=) c.2576T>C (n.2576T>C) c.2151T>C (p.Cys717=) c.1869T>C (p.Cys623=) c.1080T>C (p.Cys360=) c.2907T>C (p.Cys969=) c.2334T>C (p.Cys778=) c.2259T>C (p.Cys753=) c.936T>C (p.Cys312=) | |
3 | g.38894836A>T | CA352174946 | SCN11A | c.2532T>A (p.Cys844Ter) c.2352T>A (p.Cys784Ter) c.2576T>A (n.2576T>A) c.2151T>A (p.Cys717Ter) c.1869T>A (p.Cys623Ter) c.1080T>A (p.Cys360Ter) c.2907T>A (p.Cys969Ter) c.2334T>A (p.Cys778Ter) c.2259T>A (p.Cys753Ter) c.936T>A (p.Cys312Ter) | dbSNP |
3 | g.38894837C>A | CA352174947 | SCN11A | c.2531G>T (p.Cys844Phe) c.2351G>T (p.Cys784Phe) c.2575G>T (n.2575G>T) c.2150G>T (p.Cys717Phe) c.1868G>T (p.Cys623Phe) c.1079G>T (p.Cys360Phe) c.2906G>T (p.Cys969Phe) c.2333G>T (p.Cys778Phe) c.2258G>T (p.Cys753Phe) c.935G>T (p.Cys312Phe) | gnomAD v4 |
3 | g.38894837C= | CA1358718248 | SCN11A | c.2531G= (p.Cys844=) c.2351G= (p.Cys784=) c.2575G= (n.2575G=) c.2150G= (p.Cys717=) c.1868G= (p.Cys623=) c.1079G= (p.Cys360=) c.2906G= (p.Cys969=) c.2333G= (p.Cys778=) c.2258G= (p.Cys753=) c.935G= (p.Cys312=) | |
3 | g.38894837C>G | CA352174948 | SCN11A | c.2531G>C (p.Cys844Ser) c.2351G>C (p.Cys784Ser) c.2575G>C (n.2575G>C) c.2150G>C (p.Cys717Ser) c.1868G>C (p.Cys623Ser) c.1079G>C (p.Cys360Ser) c.2906G>C (p.Cys969Ser) c.2333G>C (p.Cys778Ser) c.2258G>C (p.Cys753Ser) c.935G>C (p.Cys312Ser) | |
3 | g.38894837C>T | CA2322019 | SCN11A | c.2531G>A (p.Cys844Tyr) c.2351G>A (p.Cys784Tyr) c.2575G>A (n.2575G>A) c.2150G>A (p.Cys717Tyr) c.1868G>A (p.Cys623Tyr) c.1079G>A (p.Cys360Tyr) c.2906G>A (p.Cys969Tyr) c.2333G>A (p.Cys778Tyr) c.2258G>A (p.Cys753Tyr) c.935G>A (p.Cys312Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38894838A= | CA1358718249 | SCN11A | c.2530T= (p.Cys844=) c.2350T= (p.Cys784=) c.2574T= (n.2574T=) c.2149T= (p.Cys717=) c.1867T= (p.Cys623=) c.1078T= (p.Cys360=) c.2905T= (p.Cys969=) c.2332T= (p.Cys778=) c.2257T= (p.Cys753=) c.934T= (p.Cys312=) | |
3 | g.38894838A>C | CA352174949 | SCN11A | c.2530T>G (p.Cys844Gly) c.2350T>G (p.Cys784Gly) c.2574T>G (n.2574T>G) c.2149T>G (p.Cys717Gly) c.1867T>G (p.Cys623Gly) c.1078T>G (p.Cys360Gly) c.2905T>G (p.Cys969Gly) c.2332T>G (p.Cys778Gly) c.2257T>G (p.Cys753Gly) c.934T>G (p.Cys312Gly) | |
3 | g.38894838A>G | CA2322020 | SCN11A | c.2530T>C (p.Cys844Arg) c.2350T>C (p.Cys784Arg) c.2574T>C (n.2574T>C) c.2149T>C (p.Cys717Arg) c.1867T>C (p.Cys623Arg) c.1078T>C (p.Cys360Arg) c.2905T>C (p.Cys969Arg) c.2332T>C (p.Cys778Arg) c.2257T>C (p.Cys753Arg) c.934T>C (p.Cys312Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894838A>T | CA352174950 | SCN11A | c.2530T>A (p.Cys844Ser) c.2350T>A (p.Cys784Ser) c.2574T>A (n.2574T>A) c.2149T>A (p.Cys717Ser) c.1867T>A (p.Cys623Ser) c.1078T>A (p.Cys360Ser) c.2905T>A (p.Cys969Ser) c.2332T>A (p.Cys778Ser) c.2257T>A (p.Cys753Ser) c.934T>A (p.Cys312Ser) | |
3 | g.38894839A= | CA1358718250 | SCN11A | c.2529T= (p.Phe843=) c.2349T= (p.Phe783=) c.2573T= (n.2573T=) c.2148T= (p.Phe716=) c.1866T= (p.Phe622=) c.1077T= (p.Phe359=) c.2904T= (p.Phe968=) c.2331T= (p.Phe777=) c.2256T= (p.Phe752=) c.933T= (p.Phe311=) | |
3 | g.38894839A>C | CA352174951 | SCN11A | c.2529T>G (p.Phe843Leu) c.2349T>G (p.Phe783Leu) c.2573T>G (n.2573T>G) c.2148T>G (p.Phe716Leu) c.1866T>G (p.Phe622Leu) c.1077T>G (p.Phe359Leu) c.2904T>G (p.Phe968Leu) c.2331T>G (p.Phe777Leu) c.2256T>G (p.Phe752Leu) c.933T>G (p.Phe311Leu) | |
3 | g.38894839A>G | CA2322021 | SCN11A | c.2529T>C (p.Phe843=) c.2349T>C (p.Phe783=) c.2573T>C (n.2573T>C) c.2148T>C (p.Phe716=) c.1866T>C (p.Phe622=) c.1077T>C (p.Phe359=) c.2904T>C (p.Phe968=) c.2331T>C (p.Phe777=) c.2256T>C (p.Phe752=) c.933T>C (p.Phe311=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38894839A>T | CA352174952 | SCN11A | c.2529T>A (p.Phe843Leu) c.2349T>A (p.Phe783Leu) c.2573T>A (n.2573T>A) c.2148T>A (p.Phe716Leu) c.1866T>A (p.Phe622Leu) c.1077T>A (p.Phe359Leu) c.2904T>A (p.Phe968Leu) c.2331T>A (p.Phe777Leu) c.2256T>A (p.Phe752Leu) c.933T>A (p.Phe311Leu) | |
3 | g.38894840A= | CA1358718251 | SCN11A | c.2528T= (p.Phe843=) c.2348T= (p.Phe783=) c.2572T= (n.2572T=) c.2147T= (p.Phe716=) c.1865T= (p.Phe622=) c.1076T= (p.Phe359=) c.2903T= (p.Phe968=) c.2330T= (p.Phe777=) c.2255T= (p.Phe752=) c.932T= (p.Phe311=) | |
3 | g.38894840A>C | CA352174953 | SCN11A | c.2528T>G (p.Phe843Cys) c.2348T>G (p.Phe783Cys) c.2572T>G (n.2572T>G) c.2147T>G (p.Phe716Cys) c.1865T>G (p.Phe622Cys) c.1076T>G (p.Phe359Cys) c.2903T>G (p.Phe968Cys) c.2330T>G (p.Phe777Cys) c.2255T>G (p.Phe752Cys) c.932T>G (p.Phe311Cys) | |
3 | g.38894840A>G | CA352174954 | SCN11A | c.2528T>C (p.Phe843Ser) c.2348T>C (p.Phe783Ser) c.2572T>C (n.2572T>C) c.2147T>C (p.Phe716Ser) c.1865T>C (p.Phe622Ser) c.1076T>C (p.Phe359Ser) c.2903T>C (p.Phe968Ser) c.2330T>C (p.Phe777Ser) c.2255T>C (p.Phe752Ser) c.932T>C (p.Phe311Ser) | dbSNP |
3 | g.38894840A>T | CA352174955 | SCN11A | c.2528T>A (p.Phe843Tyr) c.2348T>A (p.Phe783Tyr) c.2572T>A (n.2572T>A) c.2147T>A (p.Phe716Tyr) c.1865T>A (p.Phe622Tyr) c.1076T>A (p.Phe359Tyr) c.2903T>A (p.Phe968Tyr) c.2330T>A (p.Phe777Tyr) c.2255T>A (p.Phe752Tyr) c.932T>A (p.Phe311Tyr) | |
3 | g.38894841A>C | CA352174956 | SCN11A | c.2527T>G (p.Phe843Val) c.2347T>G (p.Phe783Val) c.2571T>G (n.2571T>G) c.2146T>G (p.Phe716Val) c.1864T>G (p.Phe622Val) c.1075T>G (p.Phe359Val) c.2902T>G (p.Phe968Val) c.2329T>G (p.Phe777Val) c.2254T>G (p.Phe752Val) c.931T>G (p.Phe311Val) | |
3 | g.38894841A>G | CA352174957 | SCN11A | c.2527T>C (p.Phe843Leu) c.2347T>C (p.Phe783Leu) c.2571T>C (n.2571T>C) c.2146T>C (p.Phe716Leu) c.1864T>C (p.Phe622Leu) c.1075T>C (p.Phe359Leu) c.2902T>C (p.Phe968Leu) c.2329T>C (p.Phe777Leu) c.2254T>C (p.Phe752Leu) c.931T>C (p.Phe311Leu) | |
3 | g.38894841A>T | CA352174958 | SCN11A | c.2527T>A (p.Phe843Ile) c.2347T>A (p.Phe783Ile) c.2571T>A (n.2571T>A) c.2146T>A (p.Phe716Ile) c.1864T>A (p.Phe622Ile) c.1075T>A (p.Phe359Ile) c.2902T>A (p.Phe968Ile) c.2329T>A (p.Phe777Ile) c.2254T>A (p.Phe752Ile) c.931T>A (p.Phe311Ile) | |
3 | g.38894842A>C | CA433336156 | SCN11A | c.2526T>G (p.Ala842=) c.2346T>G (p.Ala782=) c.2570T>G (n.2570T>G) c.2145T>G (p.Ala715=) c.1863T>G (p.Ala621=) c.1074T>G (p.Ala358=) c.2901T>G (p.Ala967=) c.2328T>G (p.Ala776=) c.2253T>G (p.Ala751=) c.930T>G (p.Ala310=) | |
3 | g.38894842A>G | CA433336157 | SCN11A | c.2526T>C (p.Ala842=) c.2346T>C (p.Ala782=) c.2570T>C (n.2570T>C) c.2145T>C (p.Ala715=) c.1863T>C (p.Ala621=) c.1074T>C (p.Ala358=) c.2901T>C (p.Ala967=) c.2328T>C (p.Ala776=) c.2253T>C (p.Ala751=) c.930T>C (p.Ala310=) | |
3 | g.38894842A>T | CA433336158 | SCN11A | c.2526T>A (p.Ala842=) c.2346T>A (p.Ala782=) c.2570T>A (n.2570T>A) c.2145T>A (p.Ala715=) c.1863T>A (p.Ala621=) c.1074T>A (p.Ala358=) c.2901T>A (p.Ala967=) c.2328T>A (p.Ala776=) c.2253T>A (p.Ala751=) c.930T>A (p.Ala310=) | |
3 | g.38894843G>A | CA352174961 | SCN11A | c.2525C>T (p.Ala842Val) c.2345C>T (p.Ala782Val) c.2569C>T (n.2569C>T) c.2144C>T (p.Ala715Val) c.1862C>T (p.Ala621Val) c.1073C>T (p.Ala358Val) c.2900C>T (p.Ala967Val) c.2327C>T (p.Ala776Val) c.2252C>T (p.Ala751Val) c.929C>T (p.Ala310Val) | gnomAD v4 COSMIC |
3 | g.38894843G>C | CA352174960 | SCN11A | c.2525C>G (p.Ala842Gly) c.2345C>G (p.Ala782Gly) c.2569C>G (n.2569C>G) c.2144C>G (p.Ala715Gly) c.1862C>G (p.Ala621Gly) c.1073C>G (p.Ala358Gly) c.2900C>G (p.Ala967Gly) c.2327C>G (p.Ala776Gly) c.2252C>G (p.Ala751Gly) c.929C>G (p.Ala310Gly) | |
3 | g.38894843G>T | CA352174959 | SCN11A | c.2525C>A (p.Ala842Asp) c.2345C>A (p.Ala782Asp) c.2569C>A (n.2569C>A) c.2144C>A (p.Ala715Asp) c.1862C>A (p.Ala621Asp) c.1073C>A (p.Ala358Asp) c.2900C>A (p.Ala967Asp) c.2327C>A (p.Ala776Asp) c.2252C>A (p.Ala751Asp) c.929C>A (p.Ala310Asp) | |
3 | g.38894844C>A | CA352174962 | SCN11A | c.2524G>T (p.Ala842Ser) c.2344G>T (p.Ala782Ser) c.2568G>T (n.2568G>T) c.2143G>T (p.Ala715Ser) c.1861G>T (p.Ala621Ser) c.1072G>T (p.Ala358Ser) c.2899G>T (p.Ala967Ser) c.2326G>T (p.Ala776Ser) c.2251G>T (p.Ala751Ser) c.928G>T (p.Ala310Ser) | |
3 | g.38894844C= | CA1358718252 | SCN11A | c.2524G= (p.Ala842=) c.2344G= (p.Ala782=) c.2568G= (n.2568G=) c.2143G= (p.Ala715=) c.1861G= (p.Ala621=) c.1072G= (p.Ala358=) c.2899G= (p.Ala967=) c.2326G= (p.Ala776=) c.2251G= (p.Ala751=) c.928G= (p.Ala310=) | |
3 | g.38894844C>G | CA352174963 | SCN11A | c.2524G>C (p.Ala842Pro) c.2344G>C (p.Ala782Pro) c.2568G>C (n.2568G>C) c.2143G>C (p.Ala715Pro) c.1861G>C (p.Ala621Pro) c.1072G>C (p.Ala358Pro) c.2899G>C (p.Ala967Pro) c.2326G>C (p.Ala776Pro) c.2251G>C (p.Ala751Pro) c.928G>C (p.Ala310Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894844C>T | CA352174964 | SCN11A | c.2524G>A (p.Ala842Thr) c.2344G>A (p.Ala782Thr) c.2568G>A (n.2568G>A) c.2143G>A (p.Ala715Thr) c.1861G>A (p.Ala621Thr) c.1072G>A (p.Ala358Thr) c.2899G>A (p.Ala967Thr) c.2326G>A (p.Ala776Thr) c.2251G>A (p.Ala751Thr) c.928G>A (p.Ala310Thr) | gnomAD v4 |
3 | g.38894845C>A | CA433336160 | SCN11A | c.2523G>T (p.Arg841=) c.2343G>T (p.Arg781=) c.2567G>T (n.2567G>T) c.2142G>T (p.Arg714=) c.1860G>T (p.Arg620=) c.1071G>T (p.Arg357=) c.2898G>T (p.Arg966=) c.2325G>T (p.Arg775=) c.2250G>T (p.Arg750=) c.927G>T (p.Arg309=) | |
3 | g.38894845C= | CA1358718253 | SCN11A | c.2523G= (p.Arg841=) c.2343G= (p.Arg781=) c.2567G= (n.2567G=) c.2142G= (p.Arg714=) c.1860G= (p.Arg620=) c.1071G= (p.Arg357=) c.2898G= (p.Arg966=) c.2325G= (p.Arg775=) c.2250G= (p.Arg750=) c.927G= (p.Arg309=) | |
3 | g.38894845C>G | CA433336161 | SCN11A | c.2523G>C (p.Arg841=) c.2343G>C (p.Arg781=) c.2567G>C (n.2567G>C) c.2142G>C (p.Arg714=) c.1860G>C (p.Arg620=) c.1071G>C (p.Arg357=) c.2898G>C (p.Arg966=) c.2325G>C (p.Arg775=) c.2250G>C (p.Arg750=) c.927G>C (p.Arg309=) | |
3 | g.38894845C>T | CA433336162 | SCN11A | c.2523G>A (p.Arg841=) c.2343G>A (p.Arg781=) c.2567G>A (n.2567G>A) c.2142G>A (p.Arg714=) c.1860G>A (p.Arg620=) c.1071G>A (p.Arg357=) c.2898G>A (p.Arg966=) c.2325G>A (p.Arg775=) c.2250G>A (p.Arg750=) c.927G>A (p.Arg309=) | dbSNP gnomAD v4 |
3 | g.38894846C>A | CA352174965 | SCN11A | c.2522G>T (p.Arg841Leu) c.2342G>T (p.Arg781Leu) c.2566G>T (n.2566G>T) c.2141G>T (p.Arg714Leu) c.1859G>T (p.Arg620Leu) c.1070G>T (p.Arg357Leu) c.2897G>T (p.Arg966Leu) c.2324G>T (p.Arg775Leu) c.2249G>T (p.Arg750Leu) c.926G>T (p.Arg309Leu) | |
3 | g.38894846C= | CA1358718254 | SCN11A | c.2522G= (p.Arg841=) c.2342G= (p.Arg781=) c.2566G= (n.2566G=) c.2141G= (p.Arg714=) c.1859G= (p.Arg620=) c.1070G= (p.Arg357=) c.2897G= (p.Arg966=) c.2324G= (p.Arg775=) c.2249G= (p.Arg750=) c.926G= (p.Arg309=) | |
3 | g.38894846C>G | CA352174966 | SCN11A | c.2522G>C (p.Arg841Pro) c.2342G>C (p.Arg781Pro) c.2566G>C (n.2566G>C) c.2141G>C (p.Arg714Pro) c.1859G>C (p.Arg620Pro) c.1070G>C (p.Arg357Pro) c.2897G>C (p.Arg966Pro) c.2324G>C (p.Arg775Pro) c.2249G>C (p.Arg750Pro) c.926G>C (p.Arg309Pro) | |
3 | g.38894846C>T | CA2322022 | SCN11A | c.2522G>A (p.Arg841Gln) c.2342G>A (p.Arg781Gln) c.2566G>A (n.2566G>A) c.2141G>A (p.Arg714Gln) c.1859G>A (p.Arg620Gln) c.1070G>A (p.Arg357Gln) c.2897G>A (p.Arg966Gln) c.2324G>A (p.Arg775Gln) c.2249G>A (p.Arg750Gln) c.926G>A (p.Arg309Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894847G>A | CA2322023 | SCN11A | c.2521C>T (p.Arg841Trp) c.2341C>T (p.Arg781Trp) c.2565C>T (n.2565C>T) c.2140C>T (p.Arg714Trp) c.1858C>T (p.Arg620Trp) c.1069C>T (p.Arg357Trp) c.2896C>T (p.Arg966Trp) c.2323C>T (p.Arg775Trp) c.2248C>T (p.Arg750Trp) c.925C>T (p.Arg309Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894847G>C | CA352174967 | SCN11A | c.2521C>G (p.Arg841Gly) c.2341C>G (p.Arg781Gly) c.2565C>G (n.2565C>G) c.2140C>G (p.Arg714Gly) c.1858C>G (p.Arg620Gly) c.1069C>G (p.Arg357Gly) c.2896C>G (p.Arg966Gly) c.2323C>G (p.Arg775Gly) c.2248C>G (p.Arg750Gly) c.925C>G (p.Arg309Gly) | |
3 | g.38894847G= | CA1358718255 | SCN11A | c.2521C= (p.Arg841=) c.2341C= (p.Arg781=) c.2565C= (n.2565C=) c.2140C= (p.Arg714=) c.1858C= (p.Arg620=) c.1069C= (p.Arg357=) c.2896C= (p.Arg966=) c.2323C= (p.Arg775=) c.2248C= (p.Arg750=) c.925C= (p.Arg309=) | |
3 | g.38894847G>T | CA433336165 | SCN11A | c.2521C>A (p.Arg841=) c.2341C>A (p.Arg781=) c.2565C>A (n.2565C>A) c.2140C>A (p.Arg714=) c.1858C>A (p.Arg620=) c.1069C>A (p.Arg357=) c.2896C>A (p.Arg966=) c.2323C>A (p.Arg775=) c.2248C>A (p.Arg750=) c.925C>A (p.Arg309=) | |
3 | g.38894848G>A | CA433336167 | SCN11A | c.2520C>T (p.Arg840=) c.2340C>T (p.Arg780=) c.2564C>T (n.2564C>T) c.2139C>T (p.Arg713=) c.1857C>T (p.Arg619=) c.1068C>T (p.Arg356=) c.2895C>T (p.Arg965=) c.2322C>T (p.Arg774=) c.2247C>T (p.Arg749=) c.924C>T (p.Arg308=) | gnomAD v4 |
3 | g.38894848G>C | CA433336168 | SCN11A | c.2520C>G (p.Arg840=) c.2340C>G (p.Arg780=) c.2564C>G (n.2564C>G) c.2139C>G (p.Arg713=) c.1857C>G (p.Arg619=) c.1068C>G (p.Arg356=) c.2895C>G (p.Arg965=) c.2322C>G (p.Arg774=) c.2247C>G (p.Arg749=) c.924C>G (p.Arg308=) | |
3 | g.38894848G>T | CA433336166 | SCN11A | c.2520C>A (p.Arg840=) c.2340C>A (p.Arg780=) c.2564C>A (n.2564C>A) c.2139C>A (p.Arg713=) c.1857C>A (p.Arg619=) c.1068C>A (p.Arg356=) c.2895C>A (p.Arg965=) c.2322C>A (p.Arg774=) c.2247C>A (p.Arg749=) c.924C>A (p.Arg308=) | |
3 | g.38894849C>A | CA2322025 | SCN11A | c.2519G>T (p.Arg840Leu) c.2339G>T (p.Arg780Leu) c.2563G>T (n.2563G>T) c.2138G>T (p.Arg713Leu) c.1856G>T (p.Arg619Leu) c.1067G>T (p.Arg356Leu) c.2894G>T (p.Arg965Leu) c.2321G>T (p.Arg774Leu) c.2246G>T (p.Arg749Leu) c.923G>T (p.Arg308Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |