Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51762524G>ACA384883066SCN8Ac.2392G>A (p.Ala798Thr)
c.239G>A
c.396G>A
n.2520G>A
c.2425G>A (p.Ala809Thr)
12g.51762524G>CCA384883088SCN8Ac.2392G>C (p.Ala798Pro)
c.239G>C
c.396G>C
n.2520G>C
c.2425G>C (p.Ala809Pro)
12g.51762524G>TCA384883091SCN8Ac.2392G>T (p.Ala798Ser)
c.239G>T
c.396G>T
n.2520G>T
c.2425G>T (p.Ala809Ser)
12g.51762525C>ACA384883102SCN8Ac.2393C>A (p.Ala798Glu)
c.240C>A
c.397C>A
n.2521C>A
c.2426C>A (p.Ala809Glu)
12g.51762525C=CA2036180275SCN8Ac.2393C= (p.Ala798=)
c.240C=
c.397C=
n.2521C=
c.2426C= (p.Ala809=)
12g.51762525C>GCA384883105SCN8Ac.2393C>G (p.Ala798Gly)
c.240C>G
c.397C>G
n.2521C>G
c.2426C>G (p.Ala809Gly)
 COSMIC COSMIC
12g.51762525C>TCA384883106SCN8Ac.2393C>T (p.Ala798Val)
c.240C>T
c.397C>T
n.2521C>T
c.2426C>T (p.Ala809Val)
 ClinVar dbSNP gnomAD v4
12g.51762526G>ACA6571473SCN8Ac.2394G>A (p.Ala798=)
c.241G>A
c.398G>A
n.2522G>A
c.2427G>A (p.Ala809=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51762526G>CCA479788220SCN8Ac.2394G>C (p.Ala798=)
c.241G>C
c.398G>C
n.2522G>C
c.2427G>C (p.Ala809=)
12g.51762526G=CA2036180279SCN8Ac.2394G= (p.Ala798=)
c.241G=
c.398G=
n.2522G=
c.2427G= (p.Ala809=)
12g.51762526G>TCA479788221SCN8Ac.2394G>T (p.Ala798=)
c.241G>T
c.398G>T
n.2522G>T
c.2427G>T (p.Ala809=)
12g.51762527G>ACA384883121SCN8Ac.2395G>A (p.Glu799Lys)
c.242G>A
c.399G>A
n.2523G>A
c.2428G>A (p.Glu810Lys)
12g.51762527G>CCA384883124SCN8Ac.2395G>C (p.Glu799Gln)
c.242G>C
c.399G>C
n.2523G>C
c.2428G>C (p.Glu810Gln)
12g.51762527G=CA2036180286SCN8Ac.2395G= (p.Glu799=)
c.242G=
c.399G=
n.2523G=
c.2428G= (p.Glu810=)
12g.51762527G>TCA384883129SCN8Ac.2395G>T (p.Glu799Ter)
c.242G>T
c.399G>T
n.2523G>T
c.2428G>T (p.Glu810Ter)
 dbSNP COSMIC COSMIC
12g.51762528A>CCA384883149SCN8Ac.2396A>C (p.Glu799Ala)
c.243A>C
c.400A>C
n.2524A>C
c.2429A>C (p.Glu810Ala)
12g.51762528A>GCA384883155SCN8Ac.2396A>G (p.Glu799Gly)
c.243A>G
c.400A>G
n.2524A>G
c.2429A>G (p.Glu810Gly)
12g.51762528A>TCA384883158SCN8Ac.2396A>T (p.Glu799Val)
c.243A>T
c.400A>T
n.2524A>T
c.2429A>T (p.Glu810Val)
12g.51762529A=CA2036180288SCN8Ac.2397A= (p.Glu799=)
c.244A=
c.401A=
n.2525A=
c.2430A= (p.Glu810=)
12g.51762529A>CCA384883168SCN8Ac.2397A>C (p.Glu799Asp)
c.244A>C
c.401A>C
n.2525A>C
c.2430A>C (p.Glu810Asp)
12g.51762529A>GCA479788222SCN8Ac.2397A>G (p.Glu799=)
c.244A>G
c.401A>G
n.2525A>G
c.2430A>G (p.Glu810=)
 dbSNP gnomAD v2 gnomAD v4
12g.51762529A>TCA384883167SCN8Ac.2397A>T (p.Glu799Asp)
c.244A>T
c.401A>T
n.2525A>T
c.2430A>T (p.Glu810Asp)
12g.51762530A=CA2036180291SCN8Ac.2398A= (p.Met800=)
c.245A=
c.402A=
n.2526A=
c.2431A= (p.Met811=)
12g.51762530A>CCA384883174SCN8Ac.2398A>C (p.Met800Leu)
c.245A>C
c.402A>C
n.2526A>C
c.2431A>C (p.Met811Leu)
12g.51762530A>GCA6571474SCN8Ac.2398A>G (p.Met800Val)
c.245A>G
c.402A>G
n.2526A>G
c.2431A>G (p.Met811Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51762530A>TCA384883184SCN8Ac.2398A>T (p.Met800Leu)
c.245A>T
c.402A>T
n.2526A>T
c.2431A>T (p.Met811Leu)
12g.51762531T>ACA384883195SCN8Ac.2399T>A (p.Met800Lys)
c.246T>A
c.403T>A
n.2527T>A
c.2432T>A (p.Met811Lys)
12g.51762531T>CCA384883197SCN8Ac.2399T>C (p.Met800Thr)
c.246T>C
c.403T>C
n.2527T>C
c.2432T>C (p.Met811Thr)
12g.51762531T>GCA384883199SCN8Ac.2399T>G (p.Met800Arg)
c.246T>G
c.403T>G
n.2527T>G
c.2432T>G (p.Met811Arg)
12g.51762532G>ACA384883205SCN8Ac.2400G>A (p.Met800Ile)
c.247G>A
c.404G>A
n.2528G>A
c.2433G>A (p.Met811Ile)
12g.51762532G>CCA384883214SCN8Ac.2400G>C (p.Met800Ile)
c.247G>C
c.404G>C
n.2528G>C
c.2433G>C (p.Met811Ile)
12g.51762532G>TCA384883218SCN8Ac.2400G>T (p.Met800Ile)
c.247G>T
c.404G>T
n.2528G>T
c.2433G>T (p.Met811Ile)
12g.51762533T>ACA384883231SCN8Ac.2401T>A (p.Phe801Ile)
c.248T>A
c.405T>A
n.2529T>A
c.2434T>A (p.Phe812Ile)
12g.51762533T>CCA384883236SCN8Ac.2401T>C (p.Phe801Leu)
c.248T>C
c.405T>C
n.2529T>C
c.2434T>C (p.Phe812Leu)
12g.51762533T>GCA384883237SCN8Ac.2401T>G (p.Phe801Val)
c.248T>G
c.405T>G
n.2529T>G
c.2434T>G (p.Phe812Val)
12g.51762534T>ACA384883243SCN8Ac.2402T>A (p.Phe801Tyr)
c.249T>A
c.406T>A
n.2530T>A
c.2435T>A (p.Phe812Tyr)
12g.51762534T>CCA384883240SCN8Ac.2402T>C (p.Phe801Ser)
c.249T>C
c.406T>C
n.2530T>C
c.2435T>C (p.Phe812Ser)
12g.51762534T>GCA384883238SCN8Ac.2402T>G (p.Phe801Cys)
c.249T>G
c.406T>G
n.2530T>G
c.2435T>G (p.Phe812Cys)
12g.51762535C>ACA384883247SCN8Ac.2403C>A (p.Phe801Leu)
c.250C>A
c.407C>A
n.2531C>A
c.2436C>A (p.Phe812Leu)
12g.51762535C=CA2036180292SCN8Ac.2403C= (p.Phe801=)
c.250C=
c.407C=
n.2531C=
c.2436C= (p.Phe812=)
12g.51762535C>GCA6571475SCN8Ac.2403C>G (p.Phe801Leu)
c.250C>G
c.407C>G
n.2531C>G
c.2436C>G (p.Phe812Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51762535C>TCA479788223SCN8Ac.2403C>T (p.Phe801=)
c.250C>T
c.407C>T
n.2531C>T
c.2436C>T (p.Phe812=)
12g.51762536C>ACA384883253SCN8Ac.2404C>A (p.Leu802Met)
c.251C>A
c.408C>A
n.2532C>A
c.2437C>A (p.Leu813Met)
12g.51762536C=CA2036180294SCN8Ac.2404C= (p.Leu802=)
c.251C=
c.408C=
n.2532C=
c.2437C= (p.Leu813=)
12g.51762536C>GCA384883255SCN8Ac.2404C>G (p.Leu802Val)
c.251C>G
c.408C>G
n.2532C>G
c.2437C>G (p.Leu813Val)
12g.51762536C>TCA479788224SCN8Ac.2404C>T (p.Leu802=)
c.251C>T
c.408C>T
n.2532C>T
c.2437C>T (p.Leu813=)
 dbSNP
12g.51762537T>ACA384883266SCN8Ac.2405T>A (p.Leu802Gln)
c.252T>A
c.409T>A
n.2533T>A
c.2438T>A (p.Leu813Gln)
12g.51762537T>CCA384883274SCN8Ac.2405T>C (p.Leu802Pro)
c.252T>C
c.409T>C
n.2533T>C
c.2438T>C (p.Leu813Pro)
12g.51762537T>GCA384883278SCN8Ac.2405T>G (p.Leu802Arg)
c.252T>G
c.409T>G
n.2533T>G
c.2438T>G (p.Leu813Arg)
12g.51762538G>ACA479788225SCN8Ac.2406G>A (p.Leu802=)
c.253G>A
c.410G>A
n.2534G>A
c.2439G>A (p.Leu813=)
12g.51762538G>CCA479788226SCN8Ac.2406G>C (p.Leu802=)
c.253G>C
c.410G>C
n.2534G>C
c.2439G>C (p.Leu813=)
12g.51762538G>TCA479788227SCN8Ac.2406G>T (p.Leu802=)
c.253G>T
c.410G>T
n.2534G>T
c.2439G>T (p.Leu813=)
12g.51762539A=CA2036180298SCN8Ac.2407A= (p.Lys803=)
c.254A=
c.411A=
n.2535A=
c.2440A= (p.Lys814=)
12g.51762539A>CCA384883284SCN8Ac.2407A>C (p.Lys803Gln)
c.254A>C
c.411A>C
n.2535A>C
c.2440A>C (p.Lys814Gln)
12g.51762539A>GCA384883289SCN8Ac.2407A>G (p.Lys803Glu)
c.254A>G
c.411A>G
n.2535A>G
c.2440A>G (p.Lys814Glu)
12g.51762539A>TCA384883299SCN8Ac.2407A>T (p.Lys803Ter)
c.254A>T
c.411A>T
n.2535A>T
c.2440A>T (p.Lys814Ter)
 dbSNP
12g.51762540A>CCA384883304SCN8Ac.2408A>C (p.Lys803Thr)
c.255A>C
c.412A>C
n.2536A>C
c.2441A>C (p.Lys814Thr)
12g.51762540A>GCA384883305SCN8Ac.2408A>G (p.Lys803Arg)
c.255A>G
c.412A>G
n.2536A>G
c.2441A>G (p.Lys814Arg)
 ClinVar dbSNP
12g.51762540A>TCA384883307SCN8Ac.2408A>T (p.Lys803Met)
c.255A>T
c.412A>T
n.2536A>T
c.2441A>T (p.Lys814Met)
12g.51762541G>ACA479788228SCN8Ac.2409G>A (p.Lys803=)
c.256G>A
c.413G>A
n.2537G>A
c.2442G>A (p.Lys814=)
12g.51762541G>CCA384883314SCN8Ac.2409G>C (p.Lys803Asn)
c.256G>C
c.413G>C
n.2537G>C
c.2442G>C (p.Lys814Asn)
12g.51762541G>TCA384883331SCN8Ac.2409G>T (p.Lys803Asn)
c.256G>T
c.413G>T
n.2537G>T
c.2442G>T (p.Lys814Asn)
12g.51762542C>ACA384883341SCN8Ac.2410C>A (p.Leu804Ile)
c.257C>A
c.414C>A
n.2538C>A
c.2443C>A (p.Leu815Ile)
12g.51762542C>GCA384883340SCN8Ac.2410C>G (p.Leu804Val)
c.257C>G
c.414C>G
n.2538C>G
c.2443C>G (p.Leu815Val)
12g.51762542C>TCA384883339SCN8Ac.2410C>T (p.Leu804Phe)
c.257C>T
c.414C>T
n.2538C>T
c.2443C>T (p.Leu815Phe)
12g.51762543T>ACA384883343SCN8Ac.2411T>A (p.Leu804His)
c.258T>A
c.415T>A
n.2539T>A
c.2444T>A (p.Leu815His)
12g.51762543T>CCA384883348SCN8Ac.2411T>C (p.Leu804Pro)
c.258T>C
c.415T>C
n.2539T>C
c.2444T>C (p.Leu815Pro)
12g.51762543T>GCA384883353SCN8Ac.2411T>G (p.Leu804Arg)
c.258T>G
c.415T>G
n.2539T>G
c.2444T>G (p.Leu815Arg)
12g.51762544C>ACA479788231SCN8Ac.2412C>A (p.Leu804=)
c.259C>A
c.416C>A
n.2540C>A
c.2445C>A (p.Leu815=)
12g.51762544C>GCA479788230SCN8Ac.2412C>G (p.Leu804=)
c.259C>G
c.416C>G
n.2540C>G
c.2445C>G (p.Leu815=)
12g.51762544C>TCA479788229SCN8Ac.2412C>T (p.Leu804=)
c.259C>T
c.416C>T
n.2540C>T
c.2445C>T (p.Leu815=)
12g.51762545A=CA2036180302SCN8Ac.2413A= (p.Ile805=)
c.260A=
c.417A=
n.2541A=
c.2446A= (p.Ile816=)
12g.51762545A>CCA384883357SCN8Ac.2413A>C (p.Ile805Leu)
c.260A>C
c.417A>C
n.2541A>C
c.2446A>C (p.Ile816Leu)
12g.51762545A>GCA384883362SCN8Ac.2413A>G (p.Ile805Val)
c.260A>G
c.417A>G
n.2541A>G
c.2446A>G (p.Ile816Val)
 ClinVar dbSNP gnomAD v4
12g.51762545A>TCA384883364SCN8Ac.2413A>T (p.Ile805Leu)
c.260A>T
c.417A>T
n.2541A>T
c.2446A>T (p.Ile816Leu)
12g.51762546T>ACA384883368SCN8Ac.2414T>A (p.Ile805Lys)
c.261T>A
c.418T>A
n.2542T>A
c.2447T>A (p.Ile816Lys)
12g.51762546T>CCA384883371SCN8Ac.2414T>C (p.Ile805Thr)
c.261T>C
c.418T>C
n.2542T>C
c.2447T>C (p.Ile816Thr)
12g.51762546T>GCA384883384SCN8Ac.2414T>G (p.Ile805Arg)
c.261T>G
c.418T>G
n.2542T>G
c.2447T>G (p.Ile816Arg)
12g.51762547A=CA2036180307SCN8Ac.2415A= (p.Ile805=)
c.262A=
c.419A=
n.2543A=
c.2448A= (p.Ile816=)
12g.51762547A>CCA479788232SCN8Ac.2415A>C (p.Ile805=)
c.262A>C
c.419A>C
n.2543A>C
c.2448A>C (p.Ile816=)
12g.51762547A>GCA384883394SCN8Ac.2415A>G (p.Ile805Met)
c.262A>G
c.419A>G
n.2543A>G
c.2448A>G (p.Ile816Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51762547A>TCA479788233SCN8Ac.2415A>T (p.Ile805=)
c.262A>T
c.419A>T
n.2543A>T
c.2448A>T (p.Ile816=)
 COSMIC COSMIC
12g.51762548G>ACA384883395SCN8Ac.2416G>A (p.Ala806Thr)
c.263G>A
c.420G>A
n.2544G>A
c.2449G>A (p.Ala817Thr)
 gnomAD v4
12g.51762548G>CCA384883396SCN8Ac.2416G>C (p.Ala806Pro)
c.263G>C
c.420G>C
n.2544G>C
c.2449G>C (p.Ala817Pro)
12g.51762548G>TCA384883400SCN8Ac.2416G>T (p.Ala806Ser)
c.263G>T
c.420G>T
n.2544G>T
c.2449G>T (p.Ala817Ser)
12g.51762549C>ACA384883419SCN8Ac.2417C>A (p.Ala806Asp)
c.264C>A
c.421C>A
n.2545C>A
c.2450C>A (p.Ala817Asp)
12g.51762549C>GCA384883422SCN8Ac.2417C>G (p.Ala806Gly)
c.264C>G
c.421C>G
n.2545C>G
c.2450C>G (p.Ala817Gly)
12g.51762549C>TCA384883410SCN8Ac.2417C>T (p.Ala806Val)
c.264C>T
c.421C>T
n.2545C>T
c.2450C>T (p.Ala817Val)
 ClinVar COSMIC COSMIC
12g.51762550C>ACA479788234SCN8Ac.2418C>A (p.Ala806=)
c.265C>A
c.422C>A
n.2546C>A
c.2451C>A (p.Ala817=)
12g.51762550C>GCA479788235SCN8Ac.2418C>G (p.Ala806=)
c.265C>G
c.422C>G
n.2546C>G
c.2451C>G (p.Ala817=)
12g.51762550C>TCA479788236SCN8Ac.2418C>T (p.Ala806=)
c.265C>T
c.422C>T
n.2546C>T
c.2451C>T (p.Ala817=)
 gnomAD v4
12g.51762551A>CCA384883429SCN8Ac.2419A>C (p.Met807Leu)
c.266A>C
c.423A>C
n.2547A>C
c.2452A>C (p.Met818Leu)
12g.51762551A>GCA384883431SCN8Ac.2419A>G (p.Met807Val)
c.266A>G
c.423A>G
n.2547A>G
c.2452A>G (p.Met818Val)
12g.51762551A>TCA384883433SCN8Ac.2419A>T (p.Met807Leu)
c.266A>T
c.423A>T
n.2547A>T
c.2452A>T (p.Met818Leu)
12g.51762552T>ACA384883438SCN8Ac.2420T>A (p.Met807Lys)
c.267T>A
c.424T>A
n.2548T>A
c.2453T>A (p.Met818Lys)
12g.51762552T>CCA384883445SCN8Ac.2420T>C (p.Met807Thr)
c.267T>C
c.424T>C
n.2548T>C
c.2453T>C (p.Met818Thr)
12g.51762552T>GCA384883449SCN8Ac.2420T>G (p.Met807Arg)
c.267T>G
c.424T>G
n.2548T>G
c.2453T>G (p.Met818Arg)
12g.51762553G>ACA384883453SCN8Ac.2421G>A (p.Met807Ile)
c.268G>A
c.425G>A
n.2549G>A
c.2454G>A (p.Met818Ile)
 gnomAD v4
12g.51762553G>CCA384883459SCN8Ac.2421G>C (p.Met807Ile)
c.268G>C
c.425G>C
n.2549G>C
c.2454G>C (p.Met818Ile)
12g.51762553G>TCA384883463SCN8Ac.2421G>T (p.Met807Ile)
c.268G>T
c.425G>T
n.2549G>T
c.2454G>T (p.Met818Ile)
12g.51762554G>ACA384883479SCN8Ac.2422G>A (p.Asp808Asn)
c.269G>A
c.426G>A
n.2550G>A
c.2455G>A (p.Asp819Asn)
12g.51762554G>CCA384883482SCN8Ac.2422G>C (p.Asp808His)
c.269G>C
c.426G>C
n.2550G>C
c.2455G>C (p.Asp819His)
12g.51762554G>TCA384883485SCN8Ac.2422G>T (p.Asp808Tyr)
c.269G>T
c.426G>T
n.2550G>T
c.2455G>T (p.Asp819Tyr)
12g.51762555A>CCA384883498SCN8Ac.2423A>C (p.Asp808Ala)
c.270A>C
c.427A>C
n.2551A>C
c.2456A>C (p.Asp819Ala)
12g.51762555A>GCA384883487SCN8Ac.2423A>G (p.Asp808Gly)
c.270A>G
c.427A>G
n.2551A>G
c.2456A>G (p.Asp819Gly)
 COSMIC COSMIC
12g.51762555A>TCA384883492SCN8Ac.2423A>T (p.Asp808Val)
c.270A>T
c.427A>T
n.2551A>T
c.2456A>T (p.Asp819Val)
12g.51762556T>ACA384883505SCN8Ac.2424T>A (p.Asp808Glu)
c.271T>A
c.428T>A
n.2552T>A
c.2457T>A (p.Asp819Glu)
12g.51762556T>CCA479788237SCN8Ac.2424T>C (p.Asp808=)
c.271T>C
c.428T>C
n.2552T>C
c.2457T>C (p.Asp819=)
12g.51762556T>GCA384883506SCN8Ac.2424T>G (p.Asp808Glu)
c.271T>G
c.428T>G
n.2552T>G
c.2457T>G (p.Asp819Glu)
12g.51762557C>ACA384883507SCN8Ac.2425C>A (p.Pro809Thr)
c.272C>A
c.429C>A
n.2553C>A
c.2458C>A (p.Pro820Thr)
12g.51762557C>GCA384883510SCN8Ac.2425C>G (p.Pro809Ala)
c.272C>G
c.429C>G
n.2553C>G
c.2458C>G (p.Pro820Ala)
12g.51762557C>TCA384883514SCN8Ac.2425C>T (p.Pro809Ser)
c.272C>T
c.429C>T
n.2553C>T
c.2458C>T (p.Pro820Ser)
 COSMIC COSMIC
12g.51762558C>ACA384883520SCN8Ac.2426C>A (p.Pro809His)
c.273C>A
c.430C>A
n.2554C>A
c.2459C>A (p.Pro820His)
12g.51762558C>GCA384883525SCN8Ac.2426C>G (p.Pro809Arg)
c.273C>G
c.430C>G
n.2554C>G
c.2459C>G (p.Pro820Arg)
12g.51762558C>TCA384883526SCN8Ac.2426C>T (p.Pro809Leu)
c.273C>T
c.430C>T
n.2554C>T
c.2459C>T (p.Pro820Leu)
 COSMIC COSMIC
12g.51762559C>ACA479788238SCN8Ac.2427C>A (p.Pro809=)
c.274C>A
c.431C>A
n.2555C>A
c.2460C>A (p.Pro820=)
12g.51762559C>GCA479788239SCN8Ac.2427C>G (p.Pro809=)
c.274C>G
c.431C>G
n.2555C>G
c.2460C>G (p.Pro820=)
12g.51762559C>TCA479788240SCN8Ac.2427C>T (p.Pro809=)
c.274C>T
c.431C>T
n.2555C>T
c.2460C>T (p.Pro820=)
12g.51762560T>ACA384883533SCN8Ac.2428T>A (p.Tyr810Asn)
c.275T>A
c.432T>A
n.2556T>A
c.2461T>A (p.Tyr821Asn)
12g.51762560T>CCA6571476SCN8Ac.2428T>C (p.Tyr810His)
c.275T>C
c.432T>C
n.2556T>C
c.2461T>C (p.Tyr821His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51762560T>GCA384883561SCN8Ac.2428T>G (p.Tyr810Asp)
c.275T>G
c.432T>G
n.2556T>G
c.2461T>G (p.Tyr821Asp)
12g.51762560T=CA2036180313SCN8Ac.2428T= (p.Tyr810=)
c.275T=
c.432T=
n.2556T=
c.2461T= (p.Tyr821=)
12g.51762561A=CA2036180317SCN8Ac.2429A= (p.Tyr810=)
c.276A=
c.433A=
n.2557A=
c.2462A= (p.Tyr821=)
12g.51762561A>CCA384883584SCN8Ac.2429A>C (p.Tyr810Ser)
c.276A>C
c.433A>C
n.2557A>C
c.2462A>C (p.Tyr821Ser)
12g.51762561A>GCA384883585SCN8Ac.2429A>G (p.Tyr810Cys)
c.276A>G
c.433A>G
n.2557A>G
c.2462A>G (p.Tyr821Cys)
 dbSNP
12g.51762561A>TCA384883582SCN8Ac.2429A>T (p.Tyr810Phe)
c.276A>T
c.433A>T
n.2557A>T
c.2462A>T (p.Tyr821Phe)
12g.51762562C>ACA384883596SCN8Ac.2430C>A (p.Tyr810Ter)
c.277C>A
c.434C>A
n.2558C>A
c.2463C>A (p.Tyr821Ter)
12g.51762562C>GCA384883589SCN8Ac.2430C>G (p.Tyr810Ter)
c.277C>G
c.434C>G
n.2558C>G
c.2463C>G (p.Tyr821Ter)
12g.51762562C>TCA479788241SCN8Ac.2430C>T (p.Tyr810=)
c.277C>T
c.434C>T
n.2558C>T
c.2463C>T (p.Tyr821=)
12g.51762563T>ACA384883598SCN8Ac.2431T>A (p.Tyr811Asn)
c.278T>A
c.435T>A
n.2559T>A
c.2464T>A (p.Tyr822Asn)
12g.51762563T>CCA384883604SCN8Ac.2431T>C (p.Tyr811His)
c.278T>C
c.435T>C
n.2559T>C
c.2464T>C (p.Tyr822His)
12g.51762563T>GCA384883614SCN8Ac.2431T>G (p.Tyr811Asp)
c.278T>G
c.435T>G
n.2559T>G
c.2464T>G (p.Tyr822Asp)
12g.51762564A=CA2036180319SCN8Ac.2432A= (p.Tyr811=)
c.279A=
c.436A=
n.2560A=
c.2465A= (p.Tyr822=)
12g.51762564A>CCA384883621SCN8Ac.2432A>C (p.Tyr811Ser)
c.279A>C
c.436A>C
n.2560A>C
c.2465A>C (p.Tyr822Ser)
12g.51762564A>GCA10633090SCN8Ac.2432A>G (p.Tyr811Cys)
c.279A>G
c.436A>G
n.2560A>G
c.2465A>G (p.Tyr822Cys)
 ClinVar dbSNP
12g.51762564A>TCA384883625SCN8Ac.2432A>T (p.Tyr811Phe)
c.279A>T
c.436A>T
n.2560A>T
c.2465A>T (p.Tyr822Phe)
12g.51762565T>ACA384883629SCN8Ac.2433T>A (p.Tyr811Ter)
c.280T>A
c.437T>A
n.2561T>A
c.2466T>A (p.Tyr822Ter)
12g.51762565T>CCA479788242SCN8Ac.2433T>C (p.Tyr811=)
c.280T>C
c.437T>C
n.2561T>C
c.2466T>C (p.Tyr822=)
12g.51762565T>GCA384883634SCN8Ac.2433T>G (p.Tyr811Ter)
c.280T>G
c.437T>G
n.2561T>G
c.2466T>G (p.Tyr822Ter)
12g.51762566T>ACA384883636SCN8Ac.2434T>A (p.Tyr812Asn)
c.281T>A
c.438T>A
n.2562T>A
c.2467T>A (p.Tyr823Asn)
12g.51762566T>CCA384883639SCN8Ac.2434T>C (p.Tyr812His)
c.281T>C
c.438T>C
n.2562T>C
c.2467T>C (p.Tyr823His)
12g.51762566T>GCA384883643SCN8Ac.2434T>G (p.Tyr812Asp)
c.281T>G
c.438T>G
n.2562T>G
c.2467T>G (p.Tyr823Asp)
12g.51762567A>CCA384883652SCN8Ac.2435A>C (p.Tyr812Ser)
c.282A>C
c.439A>C
n.2563A>C
c.2468A>C (p.Tyr823Ser)
12g.51762567A>GCA384883656SCN8Ac.2435A>G (p.Tyr812Cys)
c.282A>G
c.439A>G
n.2563A>G
c.2468A>G (p.Tyr823Cys)
12g.51762567A>TCA384883647SCN8Ac.2435A>T (p.Tyr812Phe)
c.282A>T
c.439A>T
n.2563A>T
c.2468A>T (p.Tyr823Phe)
12g.51762568T>ACA384883665SCN8Ac.2436T>A (p.Tyr812Ter)
c.283T>A
c.440T>A
n.2564T>A
c.2469T>A (p.Tyr823Ter)
12g.51762568T>CCA479788243SCN8Ac.2436T>C (p.Tyr812=)
c.283T>C
c.440T>C
n.2564T>C
c.2469T>C (p.Tyr823=)
 dbSNP gnomAD v2 gnomAD v4
12g.51762568T>GCA384883676SCN8Ac.2436T>G (p.Tyr812Ter)
c.283T>G
c.440T>G
n.2564T>G
c.2469T>G (p.Tyr823Ter)
12g.51762568T=CA2036180331SCN8Ac.2436T= (p.Tyr812=)
c.283T=
c.440T=
n.2564T=
c.2469T= (p.Tyr823=)
12g.51762569T>ACA384883682SCN8Ac.2437T>A (p.Phe813Ile)
c.284T>A
c.441T>A
n.2565T>A
c.2470T>A (p.Phe824Ile)
12g.51762569T>CCA384883692SCN8Ac.2437T>C (p.Phe813Leu)
c.284T>C
c.441T>C
n.2565T>C
c.2470T>C (p.Phe824Leu)
 gnomAD v4
12g.51762569T>GCA384883696SCN8Ac.2437T>G (p.Phe813Val)
c.284T>G
c.441T>G
n.2565T>G
c.2470T>G (p.Phe824Val)
12g.51762570T>ACA384883713SCN8Ac.2438T>A (p.Phe813Tyr)
c.285T>A
c.442T>A
n.2566T>A
c.2471T>A (p.Phe824Tyr)
12g.51762570T>CCA384883709SCN8Ac.2438T>C (p.Phe813Ser)
c.285T>C
c.442T>C
n.2566T>C
c.2471T>C (p.Phe824Ser)
12g.51762570T>GCA384883711SCN8Ac.2438T>G (p.Phe813Cys)
c.285T>G
c.442T>G
n.2566T>G
c.2471T>G (p.Phe824Cys)
12g.51762571C>ACA384883718SCN8Ac.2439C>A (p.Phe813Leu)
c.286C>A
c.443C>A
n.2567C>A
c.2472C>A (p.Phe824Leu)
12g.51762571C>GCA384883721SCN8Ac.2439C>G (p.Phe813Leu)
c.286C>G
c.443C>G
n.2567C>G
c.2472C>G (p.Phe824Leu)
12g.51762571C>TCA479788244SCN8Ac.2439C>T (p.Phe813=)
c.286C>T
c.443C>T
n.2567C>T
c.2472C>T (p.Phe824=)
 gnomAD v4 COSMIC COSMIC
12g.51762572C>ACA384883724SCN8Ac.2440C>A (p.Gln814Lys)
c.287C>A
c.444C>A
n.2568C>A
c.2473C>A (p.Gln825Lys)
12g.51762572C>GCA384883728SCN8Ac.2440C>G (p.Gln814Glu)
c.287C>G
c.444C>G
n.2568C>G
c.2473C>G (p.Gln825Glu)
12g.51762572C>TCA384883733SCN8Ac.2440C>T (p.Gln814Ter)
c.287C>T
c.444C>T
n.2568C>T
c.2473C>T (p.Gln825Ter)
 COSMIC COSMIC
12g.51762573A=CA2036180333SCN8Ac.2441A= (p.Gln814=)
c.288A=
c.445A=
n.2569A=
c.2474A= (p.Gln825=)
12g.51762573A>CCA384883736SCN8Ac.2441A>C (p.Gln814Pro)
c.288A>C
c.445A>C
n.2569A>C
c.2474A>C (p.Gln825Pro)
12g.51762573A>GCA384883735SCN8Ac.2441A>G (p.Gln814Arg)
c.288A>G
c.445A>G
n.2569A>G
c.2474A>G (p.Gln825Arg)
 ClinVar
12g.51762573A>TCA384883734SCN8Ac.2441A>T (p.Gln814Leu)
c.288A>T
c.445A>T
n.2569A>T
c.2474A>T (p.Gln825Leu)
 dbSNP gnomAD v2
12g.51762574A>CCA384883739SCN8Ac.2442A>C (p.Gln814His)
c.289A>C
c.446A>C
n.2570A>C
c.2475A>C (p.Gln825His)
12g.51762574A>GCA479788245SCN8Ac.2442A>G (p.Gln814=)
c.289A>G
c.446A>G
n.2570A>G
c.2475A>G (p.Gln825=)
 gnomAD v4
12g.51762574A>TCA384883744SCN8Ac.2442A>T (p.Gln814His)
c.289A>T
c.446A>T
n.2570A>T
c.2475A>T (p.Gln825His)
12g.51762575G>ACA384883750SCN8Ac.2443G>A (p.Glu815Lys)
c.290G>A
c.447G>A
n.2571G>A
c.2476G>A (p.Glu826Lys)
 gnomAD v4
12g.51762575G>CCA384883758SCN8Ac.2443G>C (p.Glu815Gln)
c.290G>C
c.447G>C
n.2571G>C
c.2476G>C (p.Glu826Gln)
12g.51762575G=CA2036180338SCN8Ac.2443G= (p.Glu815=)
c.290G=
c.447G=
n.2571G=
c.2476G= (p.Glu826=)
12g.51762575G>TCA384883776SCN8Ac.2443G>T (p.Glu815Ter)
c.290G>T
c.447G>T
n.2571G>T
c.2476G>T (p.Glu826Ter)
 dbSNP
12g.51762576A>CCA384883782SCN8Ac.2444A>C (p.Glu815Ala)
c.291A>C
c.448A>C
n.2572A>C
c.2477A>C (p.Glu826Ala)
12g.51762576A>GCA384883783SCN8Ac.2444A>G (p.Glu815Gly)
c.291A>G
c.448A>G
n.2572A>G
c.2477A>G (p.Glu826Gly)
12g.51762576A>TCA384883784SCN8Ac.2444A>T (p.Glu815Val)
c.291A>T
c.448A>T
n.2572A>T
c.2477A>T (p.Glu826Val)
12g.51762577A>CCA384883788SCN8Ac.2445A>C (p.Glu815Asp)
c.292A>C
c.449A>C
n.2573A>C
c.2478A>C (p.Glu826Asp)
12g.51762577A>GCA479788246SCN8Ac.2445A>G (p.Glu815=)
c.292A>G
c.449A>G
n.2573A>G
c.2478A>G (p.Glu826=)
12g.51762577A>TCA384883790SCN8Ac.2445A>T (p.Glu815Asp)
c.292A>T
c.449A>T
n.2573A>T
c.2478A>T (p.Glu826Asp)
12g.51762578G>ACA384883792SCN8Ac.2446G>A (p.Gly816Ser)
c.293G>A
c.450G>A
n.2574G>A
c.2479G>A (p.Gly827Ser)
12g.51762578G>CCA384883801SCN8Ac.2446G>C (p.Gly816Arg)
c.293G>C
c.450G>C
n.2574G>C
c.2479G>C (p.Gly827Arg)
12g.51762578G>TCA384883803SCN8Ac.2446G>T (p.Gly816Cys)
c.293G>T
c.450G>T
n.2574G>T
c.2479G>T (p.Gly827Cys)
12g.51762579G>ACA384883820SCN8Ac.2447G>A (p.Gly816Asp)
c.294G>A
c.451G>A
n.2575G>A
c.2480G>A (p.Gly827Asp)
 ClinVar dbSNP
12g.51762579G>CCA384883810SCN8Ac.2447G>C (p.Gly816Ala)
c.294G>C
c.451G>C
n.2575G>C
c.2480G>C (p.Gly827Ala)
12g.51762579G>TCA384883817SCN8Ac.2447G>T (p.Gly816Val)
c.294G>T
c.451G>T
n.2575G>T
c.2480G>T (p.Gly827Val)
12g.51762580T>ACA479788247SCN8Ac.2448T>A (p.Gly816=)
c.295T>A
c.452T>A
n.2576T>A
c.2481T>A (p.Gly827=)
 ClinVar dbSNP
12g.51762580T>CCA236315784SCN8Ac.2448T>C (p.Gly816=)
c.295T>C
c.452T>C
n.2576T>C
c.2481T>C (p.Gly827=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51762580T>GCA479788248SCN8Ac.2448T>G (p.Gly816=)
c.295T>G
c.452T>G
n.2576T>G
c.2481T>G (p.Gly827=)
12g.51762580T=CA2036180348SCN8Ac.2448T= (p.Gly816=)
c.295T=
c.452T=
n.2576T=
c.2481T= (p.Gly827=)
12g.51762581T>ACA384883826SCN8Ac.2449T>A (p.Trp817Arg)
c.296T>A
c.453T>A
n.2577T>A
c.2482T>A (p.Trp828Arg)
12g.51762581T>CCA384883830SCN8Ac.2449T>C (p.Trp817Arg)
c.296T>C
c.453T>C
n.2577T>C
c.2482T>C (p.Trp828Arg)
12g.51762581T>GCA384883834SCN8Ac.2449T>G (p.Trp817Gly)
c.296T>G
c.453T>G
n.2577T>G
c.2482T>G (p.Trp828Gly)
12g.51762582G>ACA384883848SCN8Ac.2450G>A (p.Trp817Ter)
c.297G>A
c.454G>A
n.2578G>A
c.2483G>A (p.Trp828Ter)
12g.51762582G>CCA384883885SCN8Ac.2450G>C (p.Trp817Ser)
c.297G>C
c.454G>C
n.2578G>C
c.2483G>C (p.Trp828Ser)
12g.51762582G>TCA384883889SCN8Ac.2450G>T (p.Trp817Leu)
c.297G>T
c.454G>T
n.2578G>T
c.2483G>T (p.Trp828Leu)
12g.51762583G>ACA384883893SCN8Ac.2451G>A (p.Trp817Ter)
c.298G>A
c.455G>A
n.2579G>A
c.2484G>A (p.Trp828Ter)
12g.51762583G>CCA384883897SCN8Ac.2451G>C (p.Trp817Cys)
c.298G>C
c.455G>C
n.2579G>C
c.2484G>C (p.Trp828Cys)
12g.51762583G>TCA384883903SCN8Ac.2451G>T (p.Trp817Cys)
c.298G>T
c.455G>T
n.2579G>T
c.2484G>T (p.Trp828Cys)
12g.51762584A>CCA384883927SCN8Ac.2452A>C (p.Asn818His)
c.299A>C
c.456A>C
n.2580A>C
c.2485A>C (p.Asn829His)
12g.51762584A>GCA384883934SCN8Ac.2452A>G (p.Asn818Asp)
c.299A>G
c.456A>G
n.2580A>G
c.2485A>G (p.Asn829Asp)
12g.51762584A>TCA384883936SCN8Ac.2452A>T (p.Asn818Tyr)
c.299A>T
c.456A>T
n.2580A>T
c.2485A>T (p.Asn829Tyr)
12g.51762585A>CCA384883955SCN8Ac.2453A>C (p.Asn818Thr)
c.300A>C
c.457A>C
n.2581A>C
c.2486A>C (p.Asn829Thr)
12g.51762585A>GCA384883957SCN8Ac.2453A>G (p.Asn818Ser)
c.300A>G
c.457A>G
n.2581A>G
c.2486A>G (p.Asn829Ser)
 gnomAD v4
12g.51762585A>TCA384883952SCN8Ac.2453A>T (p.Asn818Ile)
c.300A>T
c.457A>T
n.2581A>T
c.2486A>T (p.Asn829Ile)
12g.51762586C>ACA384883964SCN8Ac.2454C>A (p.Asn818Lys)
c.301C>A
c.458C>A
n.2582C>A
c.2487C>A (p.Asn829Lys)
12g.51762586C>GCA384883959SCN8Ac.2454C>G (p.Asn818Lys)
c.301C>G
c.458C>G
n.2582C>G
c.2487C>G (p.Asn829Lys)
12g.51762586C>TCA479788249SCN8Ac.2454C>T (p.Asn818=)
c.301C>T
c.458C>T
n.2582C>T
c.2487C>T (p.Asn829=)
 gnomAD v3 gnomAD v4
12g.51762587A=CA2036180353SCN8Ac.2455A= (p.Ile819=)
c.302A=
c.459A=
n.2583A=
c.2488A= (p.Ile830=)
12g.51762587A>CCA384883973SCN8Ac.2455A>C (p.Ile819Leu)
c.302A>C
c.459A>C
n.2583A>C
c.2488A>C (p.Ile830Leu)
12g.51762587A>GCA384883974SCN8Ac.2455A>G (p.Ile819Val)
c.302A>G
c.459A>G
n.2583A>G
c.2488A>G (p.Ile830Val)
12g.51762587A>TCA384883976SCN8Ac.2455A>T (p.Ile819Phe)
c.302A>T
c.459A>T
n.2583A>T
c.2488A>T (p.Ile830Phe)
12g.51762588T>ACA384883983SCN8Ac.2456T>A (p.Ile819Asn)
c.303T>A
c.460T>A
n.2584T>A
c.2489T>A (p.Ile830Asn)
12g.51762588T>CCA384883989SCN8Ac.2456T>C (p.Ile819Thr)
c.303T>C
c.460T>C
n.2584T>C
c.2489T>C (p.Ile830Thr)
12g.51762588T>GCA384883992SCN8Ac.2456T>G (p.Ile819Ser)
c.303T>G
c.460T>G
n.2584T>G
c.2489T>G (p.Ile830Ser)
12g.51762592dupCA891843491SCN8Ac.2460dup (p.Asp821Ter)
c.307dup
c.464dup
n.2588dup
c.2493dup (p.Asp832Ter)
 ClinVar dbSNP
12g.51762589T>ACA479788250SCN8Ac.2457T>A (p.Ile819=)
c.304T>A
c.461T>A
n.2585T>A
c.2490T>A (p.Ile830=)
12g.51762589T>CCA479788251SCN8Ac.2457T>C (p.Ile819=)
c.304T>C
c.461T>C
n.2585T>C
c.2490T>C (p.Ile830=)
12g.51762589T>GCA384884014SCN8Ac.2457T>G (p.Ile819Met)
c.304T>G
c.461T>G
n.2585T>G
c.2490T>G (p.Ile830Met)
12g.51762590T>ACA384884027SCN8Ac.2458T>A (p.Phe820Ile)
c.305T>A
c.462T>A
n.2586T>A
c.2491T>A (p.Phe831Ile)
12g.51762590T>CCA384884036SCN8Ac.2458T>C (p.Phe820Leu)
c.305T>C
c.462T>C
n.2586T>C
c.2491T>C (p.Phe831Leu)
12g.51762590T>GCA384884030SCN8Ac.2458T>G (p.Phe820Val)
c.305T>G
c.462T>G
n.2586T>G
c.2491T>G (p.Phe831Val)
12g.51762591T>ACA384884042SCN8Ac.2459T>A (p.Phe820Tyr)
c.306T>A
c.463T>A
n.2587T>A
c.2492T>A (p.Phe831Tyr)
12g.51762591T>CCA384884044SCN8Ac.2459T>C (p.Phe820Ser)
c.306T>C
c.463T>C
n.2587T>C
c.2492T>C (p.Phe831Ser)
12g.51762591T>GCA384884047SCN8Ac.2459T>G (p.Phe820Cys)
c.306T>G
c.463T>G
n.2587T>G
c.2492T>G (p.Phe831Cys)
12g.51762592T>ACA384884049SCN8Ac.2460T>A (p.Phe820Leu)
c.307T>A
c.464T>A
n.2588T>A
c.2493T>A (p.Phe831Leu)
12g.51762592T>CCA479788252SCN8Ac.2460T>C (p.Phe820=)
c.307T>C
c.464T>C
n.2588T>C
c.2493T>C (p.Phe831=)
12g.51762592T>GCA384884053SCN8Ac.2460T>G (p.Phe820Leu)
c.307T>G
c.464T>G
n.2588T>G
c.2493T>G (p.Phe831Leu)
12g.51762593G>ACA384884059SCN8Ac.2461G>A (p.Asp821Asn)
c.308G>A
c.465G>A
n.2589G>A
c.2494G>A (p.Asp832Asn)
12g.51762593G>CCA384884070SCN8Ac.2461G>C (p.Asp821His)
c.308G>C
c.465G>C
n.2589G>C
c.2494G>C (p.Asp832His)
12g.51762593G>TCA384884064SCN8Ac.2461G>T (p.Asp821Tyr)
c.308G>T
c.465G>T
n.2589G>T
c.2494G>T (p.Asp832Tyr)
12g.51762594A>CCA384884074SCN8Ac.2462A>C (p.Asp821Ala)
c.309A>C
c.466A>C
n.2590A>C
c.2495A>C (p.Asp832Ala)
12g.51762594A>GCA384884075SCN8Ac.2462A>G (p.Asp821Gly)
c.309A>G
c.466A>G
n.2590A>G
c.2495A>G (p.Asp832Gly)
12g.51762594A>TCA384884078SCN8Ac.2462A>T (p.Asp821Val)
c.309A>T
c.466A>T
n.2590A>T
c.2495A>T (p.Asp832Val)
12g.51762595C>ACA384884082SCN8Ac.2463C>A (p.Asp821Glu)
c.310C>A
c.467C>A
n.2591C>A
c.2496C>A (p.Asp832Glu)
12g.51762595C=CA2036180373SCN8Ac.2463C= (p.Asp821=)
c.310C=
c.467C=
n.2591C=
c.2496C= (p.Asp832=)
12g.51762595C>GCA384884087SCN8Ac.2463C>G (p.Asp821Glu)
c.310C>G
c.467C>G
n.2591C>G
c.2496C>G (p.Asp832Glu)
12g.51762595C>TCA6571477SCN8Ac.2463C>T (p.Asp821=)
c.310C>T
c.467C>T
n.2591C>T
c.2496C>T (p.Asp832=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51762596G>ACA384884105SCN8Ac.2464G>A (p.Gly822Arg)
c.311G>A
c.468G>A
n.2592G>A
c.2497G>A (p.Gly833Arg)
 ClinVar dbSNP
12g.51762596G>CCA384884108SCN8Ac.2464G>C (p.Gly822Arg)
c.311G>C
c.468G>C
n.2592G>C
c.2497G>C (p.Gly833Arg)
12g.51762596G=CA2036180378SCN8Ac.2464G= (p.Gly822=)
c.311G=
c.468G=
n.2592G=
c.2497G= (p.Gly833=)
12g.51762596G>TCA384884114SCN8Ac.2464G>T (p.Gly822Ter)
c.311G>T
c.468G>T
n.2592G>T
c.2497G>T (p.Gly833Ter)
 dbSNP
12g.51762597delCA2695216907SCN8Ac.2465del (p.Gly822AspfsTer8)
c.312del
c.469del
n.2593del
c.2498del (p.Gly833AspfsTer8)
12g.51762597G>ACA384884117SCN8Ac.2465G>A (p.Gly822Glu)
c.312G>A
c.469G>A
n.2593G>A
c.2498G>A (p.Gly833Glu)
 COSMIC COSMIC
12g.51762597G>CCA236315791SCN8Ac.2465G>C (p.Gly822Ala)
c.312G>C
c.469G>C
n.2593G>C
c.2498G>C (p.Gly833Ala)
 dbSNP
12g.51762597G=CA2036180384SCN8Ac.2465G= (p.Gly822=)
c.312G=
c.469G=
n.2593G=
c.2498G= (p.Gly833=)
12g.51762597G>TCA384884119SCN8Ac.2465G>T (p.Gly822Val)
c.312G>T
c.469G>T
n.2593G>T
c.2498G>T (p.Gly833Val)
12g.51762598A=CA2036180391SCN8Ac.2466A= (p.Gly822=)
c.313A=
c.470A=
n.2594A=
c.2499A= (p.Gly833=)
12g.51762598A>CCA479788255SCN8Ac.2466A>C (p.Gly822=)
c.313A>C
c.470A>C
n.2594A>C
c.2499A>C (p.Gly833=)
12g.51762598A>GCA479788253SCN8Ac.2466A>G (p.Gly822=)
c.313A>G
c.470A>G
n.2594A>G
c.2499A>G (p.Gly833=)
12g.51762598A>TCA479788254SCN8Ac.2466A>T (p.Gly822=)
c.313A>T
c.470A>T
n.2594A>T
c.2499A>T (p.Gly833=)
 dbSNP gnomAD v3 gnomAD v4
12g.51762599T>ACA384884123SCN8Ac.2467T>A (p.Phe823Ile)
c.314T>A
c.471T>A
n.2595T>A
c.2500T>A (p.Phe834Ile)
12g.51762599T>CCA384884127SCN8Ac.2467T>C (p.Phe823Leu)
c.314T>C
c.471T>C
n.2595T>C
c.2500T>C (p.Phe834Leu)
12g.51762599T>GCA384884125SCN8Ac.2467T>G (p.Phe823Val)
c.314T>G
c.471T>G
n.2595T>G
c.2500T>G (p.Phe834Val)
12g.51762600T>ACA384884131SCN8Ac.2468T>A (p.Phe823Tyr)
c.315T>A
c.472T>A
n.2596T>A
c.2501T>A (p.Phe834Tyr)
12g.51762600T>CCA384884133SCN8Ac.2468T>C (p.Phe823Ser)
c.315T>C
c.472T>C
n.2596T>C
c.2501T>C (p.Phe834Ser)
12g.51762600T>GCA384884139SCN8Ac.2468T>G (p.Phe823Cys)
c.315T>G
c.472T>G
n.2596T>G
c.2501T>G (p.Phe834Cys)
12g.51762601T>ACA384884144SCN8Ac.2469T>A (p.Phe823Leu)
c.316T>A
c.473T>A
n.2597T>A
c.2502T>A (p.Phe834Leu)
12g.51762601T>CCA479788256SCN8Ac.2469T>C (p.Phe823=)
c.316T>C
c.473T>C
n.2597T>C
c.2502T>C (p.Phe834=)
12g.51762601T>GCA384884151SCN8Ac.2469T>G (p.Phe823Leu)
c.316T>G
c.473T>G
n.2597T>G
c.2502T>G (p.Phe834Leu)
12g.51762602A>CCA384884157SCN8Ac.2470A>C (p.Ile824Leu)
c.317A>C
c.474A>C
n.2598A>C
c.2503A>C (p.Ile835Leu)
12g.51762602A>GCA384884164SCN8Ac.2470A>G (p.Ile824Val)
c.317A>G
c.474A>G
n.2598A>G
c.2503A>G (p.Ile835Val)
12g.51762602A>TCA384884170SCN8Ac.2470A>T (p.Ile824Phe)
c.317A>T
c.474A>T
n.2598A>T
c.2503A>T (p.Ile835Phe)
12g.51762603T>ACA384884176SCN8Ac.2471T>A (p.Ile824Asn)
c.318T>A
c.475T>A
n.2599T>A
c.2504T>A (p.Ile835Asn)
12g.51762603T>CCA384884184SCN8Ac.2471T>C (p.Ile824Thr)
c.318T>C
c.475T>C
n.2599T>C
c.2504T>C (p.Ile835Thr)
12g.51762603T>GCA384884187SCN8Ac.2471T>G (p.Ile824Ser)
c.318T>G
c.475T>G
n.2599T>G
c.2504T>G (p.Ile835Ser)
12g.51762604T>ACA479788257SCN8Ac.2472T>A (p.Ile824=)
c.319T>A
c.476T>A
n.2600T>A
c.2505T>A (p.Ile835=)
 ClinVar dbSNP
12g.51762604T>CCA479788258SCN8Ac.2472T>C (p.Ile824=)
c.319T>C
c.476T>C
n.2600T>C
c.2505T>C (p.Ile835=)
12g.51762604T>GCA384884193SCN8Ac.2472T>G (p.Ile824Met)
c.319T>G
c.476T>G
n.2600T>G
c.2505T>G (p.Ile835Met)
12g.51762604T=CA2036180395SCN8Ac.2472T= (p.Ile824=)
c.319T=
c.476T=
n.2600T=
c.2505T= (p.Ile835=)
12g.51762605G>ACA384884203SCN8Ac.2473G>A (p.Val825Ile)
c.320G>A
c.477G>A
n.2601G>A
c.2506G>A (p.Val836Ile)
12g.51762605G>CCA384884206SCN8Ac.2473G>C (p.Val825Leu)
c.320G>C
c.477G>C
n.2601G>C
c.2506G>C (p.Val836Leu)
12g.51762605G>TCA384884200SCN8Ac.2473G>T (p.Val825Phe)
c.320G>T
c.477G>T
n.2601G>T
c.2506G>T (p.Val836Phe)
12g.51762606T>ACA384884211SCN8Ac.2474T>A (p.Val825Asp)
c.321T>A
c.478T>A
n.2602T>A
c.2507T>A (p.Val836Asp)
12g.51762606T>CCA384884217SCN8Ac.2474T>C (p.Val825Ala)
c.321T>C
c.478T>C
n.2602T>C
c.2507T>C (p.Val836Ala)
12g.51762606T>GCA384884229SCN8Ac.2474T>G (p.Val825Gly)
c.321T>G
c.478T>G
n.2602T>G
c.2507T>G (p.Val836Gly)
12g.51762607C>ACA318235SCN8Ac.2475C>A (p.Val825=)
c.322C>A
c.479C>A
n.2603C>A
c.2508C>A (p.Val836=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51762607C=CA2036180408SCN8Ac.2475C= (p.Val825=)
c.322C=
c.479C=
n.2603C=
c.2508C= (p.Val836=)
12g.51762607C>GCA479788259SCN8Ac.2475C>G (p.Val825=)
c.322C>G
c.479C>G
n.2603C>G
c.2508C>G (p.Val836=)
12g.51762607C>TCA479788260SCN8Ac.2475C>T (p.Val825=)
c.322C>T
c.479C>T
n.2603C>T
c.2508C>T (p.Val836=)
12g.51762608T>ACA384884239SCN8Ac.2476T>A (p.Ser826Thr)
c.323T>A
c.480T>A
n.2604T>A
c.2509T>A (p.Ser837Thr)
12g.51762608T>CCA384884235SCN8Ac.2476T>C (p.Ser826Pro)
c.323T>C
c.480T>C
n.2604T>C
c.2509T>C (p.Ser837Pro)
12g.51762608T>GCA384884233SCN8Ac.2476T>G (p.Ser826Ala)
c.323T>G
c.480T>G
n.2604T>G
c.2509T>G (p.Ser837Ala)
12g.51762609C>ACA384884243SCN8Ac.2477C>A (p.Ser826Tyr)
c.324C>A
c.481C>A
n.2605C>A
c.2510C>A (p.Ser837Tyr)
12g.51762609C>GCA384884250SCN8Ac.2477C>G (p.Ser826Cys)
c.324C>G
c.481C>G
n.2605C>G
c.2510C>G (p.Ser837Cys)
12g.51762609C>TCA384884257SCN8Ac.2477C>T (p.Ser826Phe)
c.324C>T
c.481C>T
n.2605C>T
c.2510C>T (p.Ser837Phe)
12g.51762610C>ACA479788261SCN8Ac.2478C>A (p.Ser826=)
c.325C>A
c.482C>A
n.2606C>A
c.2511C>A (p.Ser837=)
12g.51762610C>GCA479788262SCN8Ac.2478C>G (p.Ser826=)
c.325C>G
c.482C>G
n.2606C>G
c.2511C>G (p.Ser837=)
12g.51762610C>TCA479788263SCN8Ac.2478C>T (p.Ser826=)
c.325C>T
c.482C>T
n.2606C>T
c.2511C>T (p.Ser837=)
12g.51762611C>ACA384884272SCN8Ac.2479C>A (p.Leu827Ile)
c.326C>A
c.483C>A
n.2607C>A
c.2512C>A (p.Leu838Ile)
12g.51762611C>GCA384884286SCN8Ac.2479C>G (p.Leu827Val)
c.326C>G
c.483C>G
n.2607C>G
c.2512C>G (p.Leu838Val)
12g.51762611C>TCA384884289SCN8Ac.2479C>T (p.Leu827Phe)
c.326C>T
c.483C>T
n.2607C>T
c.2512C>T (p.Leu838Phe)
 ClinVar
12g.51762612T>ACA384884313SCN8Ac.2480T>A (p.Leu827His)
c.327T>A
c.484T>A
n.2608T>A
c.2513T>A (p.Leu838His)
12g.51762612T>CCA384884306SCN8Ac.2480T>C (p.Leu827Pro)
c.327T>C
c.484T>C
n.2608T>C
c.2513T>C (p.Leu838Pro)
12g.51762612T>GCA384884311SCN8Ac.2480T>G (p.Leu827Arg)
c.327T>G
c.484T>G
n.2608T>G
c.2513T>G (p.Leu838Arg)
12g.51762613C>ACA479788264SCN8Ac.2481C>A (p.Leu827=)
c.328C>A
c.485C>A
n.2609C>A
c.2514C>A (p.Leu838=)
12g.51762613C>GCA479788265SCN8Ac.2481C>G (p.Leu827=)
c.328C>G
c.485C>G
n.2609C>G
c.2514C>G (p.Leu838=)
12g.51762613C>TCA479788266SCN8Ac.2481C>T (p.Leu827=)
c.328C>T
c.485C>T
n.2609C>T
c.2514C>T (p.Leu838=)
12g.51762614A=CA2036180412SCN8Ac.2482A= (p.Ser828=)
c.329A=
c.486A=
n.2610A=
c.2515A= (p.Ser839=)
12g.51762614A>CCA384884320SCN8Ac.2482A>C (p.Ser828Arg)
c.329A>C
c.486A>C
n.2610A>C
c.2515A>C (p.Ser839Arg)
12g.51762614A>GCA384884327SCN8Ac.2482A>G (p.Ser828Gly)
c.329A>G
c.486A>G
n.2610A>G
c.2515A>G (p.Ser839Gly)
 dbSNP gnomAD v4
12g.51762614A>TCA384884323SCN8Ac.2482A>T (p.Ser828Cys)
c.329A>T
c.486A>T
n.2610A>T
c.2515A>T (p.Ser839Cys)
12g.51762615G>ACA384884335SCN8Ac.2483G>A (p.Ser828Asn)
c.330G>A
c.487G>A
n.2611G>A
c.2516G>A (p.Ser839Asn)
12g.51762615G>CCA384884343SCN8Ac.2483G>C (p.Ser828Thr)
c.330G>C
c.487G>C
n.2611G>C
c.2516G>C (p.Ser839Thr)
12g.51762615G>TCA384884344SCN8Ac.2483G>T (p.Ser828Ile)
c.330G>T
c.487G>T
n.2611G>T
c.2516G>T (p.Ser839Ile)
12g.51762616T>ACA384884345SCN8Ac.2484T>A (p.Ser828Arg)
c.331T>A
c.488T>A
n.2612T>A
c.2517T>A (p.Ser839Arg)
12g.51762616T>CCA479788267SCN8Ac.2484T>C (p.Ser828=)
c.331T>C
c.488T>C
n.2612T>C
c.2517T>C (p.Ser839=)
12g.51762616T>GCA384884346SCN8Ac.2484T>G (p.Ser828Arg)
c.331T>G
c.488T>G
n.2612T>G
c.2517T>G (p.Ser839Arg)
12g.51762617T>ACA384884352SCN8Ac.2485T>A (p.Leu829Ile)
c.332T>A
c.489T>A
n.2613T>A
c.2518T>A (p.Leu840Ile)
12g.51762617T>CCA479788268SCN8Ac.2485T>C (p.Leu829=)
c.332T>C
c.489T>C
n.2613T>C
c.2518T>C (p.Leu840=)
12g.51762617T>GCA384884355SCN8Ac.2485T>G (p.Leu829Val)
c.332T>G
c.489T>G
n.2613T>G
c.2518T>G (p.Leu840Val)
12g.51762617_51762621delinsTTAATCA2036180415SCN8Ac.2485_2489delinsTTAAT (p.Leu829=)
c.332_336delinsTTAAT
c.489_493delinsTTAAT
n.2613_2617delinsTTAAT
c.2518_2522delinsTTAAT (p.Leu840=)
12g.51762618T>ACA384884359SCN8Ac.2486T>A (p.Leu829Ter)
c.333T>A
c.490T>A
n.2614T>A
c.2519T>A (p.Leu840Ter)
12g.51762618T>CCA384884360SCN8Ac.2486T>C (p.Leu829Ser)
c.333T>C
c.490T>C
n.2614T>C
c.2519T>C (p.Leu840Ser)
12g.51762618T>GCA384884361SCN8Ac.2486T>G (p.Leu829Ter)
c.333T>G
c.490T>G
n.2614T>G
c.2519T>G (p.Leu840Ter)
12g.51762618_51762621delinsCCATTACA915948395SCN8Ac.2486_2489delinsCCATTA (p.Leu829SerfsTer5)
c.333_336delinsCCATTA
c.490_493delinsCCATTA
n.2614_2617delinsCCATTA
c.2519_2522delinsCCATTA (p.Leu840SerfsTer5)
 ClinVar dbSNP
12g.51762619A>CCA384884364SCN8Ac.2487A>C (p.Leu829Phe)
c.334A>C
c.491A>C
n.2615A>C
c.2520A>C (p.Leu840Phe)
12g.51762619A>GCA479788269SCN8Ac.2487A>G (p.Leu829=)
c.334A>G
c.491A>G
n.2615A>G
c.2520A>G (p.Leu840=)
12g.51762619A>TCA384884367SCN8Ac.2487A>T (p.Leu829Phe)
c.334A>T
c.491A>T
n.2615A>T
c.2520A>T (p.Leu840Phe)
12g.51762620A>CCA384884380SCN8Ac.2488A>C (p.Met830Leu)
c.335A>C
c.492A>C
n.2616A>C
c.2521A>C (p.Met841Leu)
12g.51762620A>GCA384884376SCN8Ac.2488A>G (p.Met830Val)
c.335A>G
c.492A>G
n.2616A>G
c.2521A>G (p.Met841Val)
 gnomAD v4
12g.51762620A>TCA384884373SCN8Ac.2488A>T (p.Met830Leu)
c.335A>T
c.492A>T
n.2616A>T
c.2521A>T (p.Met841Leu)
12g.51762621T>ACA384884383SCN8Ac.2489T>A (p.Met830Lys)
c.336T>A
c.493T>A
n.2617T>A
c.2522T>A (p.Met841Lys)
12g.51762621T>CCA384884385SCN8Ac.2489T>C (p.Met830Thr)
c.336T>C
c.493T>C
n.2617T>C
c.2522T>C (p.Met841Thr)
 ClinVar
12g.51762621T>GCA384884388SCN8Ac.2489T>G (p.Met830Arg)
c.336T>G
c.493T>G
n.2617T>G
c.2522T>G (p.Met841Arg)
12g.51762621T=CA2036180423SCN8Ac.2489T= (p.Met830=)
c.336T=
c.493T=
n.2617T=
c.2522T= (p.Met841=)
12g.51762622G>ACA384884395SCN8Ac.2490G>A (p.Met830Ile)
c.337G>A
c.494G>A
n.2618G>A
c.2523G>A (p.Met841Ile)
12g.51762622G>CCA384884399SCN8Ac.2490G>C (p.Met830Ile)
c.337G>C
c.494G>C
n.2618G>C
c.2523G>C (p.Met841Ile)
12g.51762622G>TCA384884403SCN8Ac.2490G>T (p.Met830Ile)
c.337G>T
c.494G>T
n.2618G>T
c.2523G>T (p.Met841Ile)
12g.51762623dupCA236315793SCN8Ac.2491dup (p.Glu831GlyfsTer?)
c.338dup
c.495dup
n.2619dup
c.2524dup (p.Glu842GlyfsTer?)
 dbSNP
12g.51762623G>ACA384884408SCN8Ac.2491G>A (p.Glu831Lys)
c.338G>A
c.495G>A
n.2619G>A
c.2524G>A (p.Glu842Lys)
 ClinVar dbSNP COSMIC COSMIC
12g.51762623G>CCA384884411SCN8Ac.2491G>C (p.Glu831Gln)
c.338G>C
c.495G>C
n.2619G>C
c.2524G>C (p.Glu842Gln)
12g.51762623G=CA2036180430SCN8Ac.2491G= (p.Glu831=)
c.338G=
c.495G=
n.2619G=
c.2524G= (p.Glu842=)
12g.51762623G>TCA384884415SCN8Ac.2491G>T (p.Glu831Ter)
c.338G>T
c.495G>T
n.2619G>T
c.2524G>T (p.Glu842Ter)
 dbSNP
12g.51762624A>CCA384884416SCN8Ac.2492A>C (p.Glu831Ala)
c.339A>C
c.496A>C
n.2620A>C
c.2525A>C (p.Glu842Ala)
12g.51762624A>GCA384884417SCN8Ac.2492A>G (p.Glu831Gly)
c.339A>G
c.496A>G
n.2620A>G
c.2525A>G (p.Glu842Gly)
12g.51762624A>TCA384884418SCN8Ac.2492A>T (p.Glu831Val)
c.339A>T
c.496A>T
n.2620A>T
c.2525A>T (p.Glu842Val)

Number of alleles fetched