Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38894836delCA2577554804SCN11Ac.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
3g.38894836A=CA1358718247SCN11Ac.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=)
3g.38894836A>CCA352174945SCN11Ac.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)
3g.38894836A>GCA433336153SCN11Ac.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=)
3g.38894836A>TCA352174946SCN11Ac.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
3g.38894837C>ACA352174947SCN11Ac.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
3g.38894837C=CA1358718248SCN11Ac.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=)
3g.38894837C>GCA352174948SCN11Ac.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)
3g.38894837C>TCA2322019SCN11Ac.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
3g.38894838A=CA1358718249SCN11Ac.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=)
3g.38894838A>CCA352174949SCN11Ac.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)
3g.38894838A>GCA2322020SCN11Ac.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
3g.38894838A>TCA352174950SCN11Ac.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)
3g.38894839A=CA1358718250SCN11Ac.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=)
3g.38894839A>CCA352174951SCN11Ac.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)
3g.38894839A>GCA2322021SCN11Ac.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
3g.38894839A>TCA352174952SCN11Ac.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)
3g.38894840A=CA1358718251SCN11Ac.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=)
3g.38894840A>CCA352174953SCN11Ac.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)
3g.38894840A>GCA352174954SCN11Ac.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
3g.38894840A>TCA352174955SCN11Ac.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)
3g.38894841A>CCA352174956SCN11Ac.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)
3g.38894841A>GCA352174957SCN11Ac.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)
3g.38894841A>TCA352174958SCN11Ac.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)
3g.38894842A>CCA433336156SCN11Ac.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=)
3g.38894842A>GCA433336157SCN11Ac.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=)
3g.38894842A>TCA433336158SCN11Ac.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=)
3g.38894843G>ACA352174961SCN11Ac.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
3g.38894843G>CCA352174960SCN11Ac.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)
3g.38894843G>TCA352174959SCN11Ac.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)
3g.38894844C>ACA352174962SCN11Ac.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)
3g.38894844C=CA1358718252SCN11Ac.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=)
3g.38894844C>GCA352174963SCN11Ac.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
3g.38894844C>TCA352174964SCN11Ac.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
3g.38894845C>ACA433336160SCN11Ac.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=)
3g.38894845C=CA1358718253SCN11Ac.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=)
3g.38894845C>GCA433336161SCN11Ac.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=)
3g.38894845C>TCA433336162SCN11Ac.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
3g.38894846C>ACA352174965SCN11Ac.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)
3g.38894846C=CA1358718254SCN11Ac.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=)
3g.38894846C>GCA352174966SCN11Ac.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)
3g.38894846C>TCA2322022SCN11Ac.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
3g.38894847G>ACA2322023SCN11Ac.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
3g.38894847G>CCA352174967SCN11Ac.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)
3g.38894847G=CA1358718255SCN11Ac.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=)
3g.38894847G>TCA433336165SCN11Ac.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=)
3g.38894848G>ACA433336167SCN11Ac.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
3g.38894848G>CCA433336168SCN11Ac.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=)
3g.38894848G>TCA433336166SCN11Ac.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=)
3g.38894849C>ACA2322025SCN11Ac.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

Number of alleles fetched