Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
12g.51762625A=CA2036180438SCN8Ac.2493A= (p.Glu831=)
c.340A=
c.497A=
n.2621A=
c.2526A= (p.Glu842=)
12g.51762625A>CCA384884419SCN8Ac.2493A>C (p.Glu831Asp)
c.340A>C
c.497A>C
n.2621A>C
c.2526A>C (p.Glu842Asp)
12g.51762625A>GCA479788270SCN8Ac.2493A>G (p.Glu831=)
c.340A>G
c.497A>G
n.2621A>G
c.2526A>G (p.Glu842=)
12g.51762625A>TCA384884420SCN8Ac.2493A>T (p.Glu831Asp)
c.340A>T
c.497A>T
n.2621A>T
c.2526A>T (p.Glu842Asp)
 ClinVar dbSNP
12g.51762626C>ACA384884422SCN8Ac.2494C>A (p.Leu832Met)
c.341C>A
c.498C>A
n.2622C>A
c.2527C>A (p.Leu843Met)
12g.51762626C=CA2036180452SCN8Ac.2494C= (p.Leu832=)
c.341C=
c.498C=
n.2622C=
c.2527C= (p.Leu843=)
12g.51762626C>GCA384884424SCN8Ac.2494C>G (p.Leu832Val)
c.341C>G
c.498C>G
n.2622C>G
c.2527C>G (p.Leu843Val)
12g.51762626C>TCA479788271SCN8Ac.2494C>T (p.Leu832=)
c.341C>T
c.498C>T
n.2622C>T
c.2527C>T (p.Leu843=)
 ClinVar dbSNP gnomAD v4
12g.51762627T>ACA384884427SCN8Ac.2495T>A (p.Leu832Gln)
c.342T>A
c.499T>A
n.2623T>A
c.2528T>A (p.Leu843Gln)
12g.51762627T>CCA384884430SCN8Ac.2495T>C (p.Leu832Pro)
c.342T>C
c.499T>C
n.2623T>C
c.2528T>C (p.Leu843Pro)
12g.51762627T>GCA384884438SCN8Ac.2495T>G (p.Leu832Arg)
c.342T>G
c.499T>G
n.2623T>G
c.2528T>G (p.Leu843Arg)
 ClinVar
12g.51762628G>ACA479788272SCN8Ac.2496G>A (p.Leu832=)
c.343G>A
c.500G>A
n.2624G>A
c.2529G>A (p.Leu843=)
12g.51762628G>CCA479788273SCN8Ac.2496G>C (p.Leu832=)
c.343G>C
c.500G>C
n.2624G>C
c.2529G>C (p.Leu843=)
 COSMIC COSMIC
12g.51762628G>TCA479788274SCN8Ac.2496G>T (p.Leu832=)
c.343G>T
c.500G>T
n.2624G>T
c.2529G>T (p.Leu843=)
12g.51762629A>CCA384884441SCN8Ac.2497A>C (p.Ser833Arg)
c.344A>C
c.501A>C
n.2625A>C
c.2530A>C (p.Ser844Arg)
12g.51762629A>GCA384884444SCN8Ac.2497A>G (p.Ser833Gly)
c.344A>G
c.501A>G
n.2625A>G
c.2530A>G (p.Ser844Gly)
12g.51762629A>TCA384884447SCN8Ac.2497A>T (p.Ser833Cys)
c.344A>T
c.501A>T
n.2625A>T
c.2530A>T (p.Ser844Cys)
12g.51762630G>ACA384884452SCN8Ac.2498G>A (p.Ser833Asn)
c.345G>A
c.502G>A
n.2626G>A
c.2531G>A (p.Ser844Asn)
12g.51762630G>CCA384884457SCN8Ac.2498G>C (p.Ser833Thr)
c.345G>C
c.502G>C
n.2626G>C
c.2531G>C (p.Ser844Thr)
 COSMIC COSMIC
12g.51762630G>TCA384884460SCN8Ac.2498G>T (p.Ser833Ile)
c.345G>T
c.502G>T
n.2626G>T
c.2531G>T (p.Ser844Ile)
12g.51762631T>ACA384884466SCN8Ac.2499T>A (p.Ser833Arg)
c.346T>A
c.503T>A
n.2627T>A
c.2532T>A (p.Ser844Arg)
12g.51762631T>CCA479788275SCN8Ac.2499T>C (p.Ser833=)
c.346T>C
c.503T>C
n.2627T>C
c.2532T>C (p.Ser844=)
 dbSNP gnomAD v3 gnomAD v4
12g.51762631T>GCA384884470SCN8Ac.2499T>G (p.Ser833Arg)
c.346T>G
c.503T>G
n.2627T>G
c.2532T>G (p.Ser844Arg)
12g.51762631T=CA2036180456SCN8Ac.2499T= (p.Ser833=)
c.346T=
c.503T=
n.2627T=
c.2532T= (p.Ser844=)
12g.51762632C>ACA384884481SCN8Ac.2500C>A (p.Leu834Ile)
c.347C>A
c.504C>A
n.2628C>A
c.2533C>A (p.Leu845Ile)
12g.51762632C>GCA384884478SCN8Ac.2500C>G (p.Leu834Val)
c.347C>G
c.504C>G
n.2628C>G
c.2533C>G (p.Leu845Val)
12g.51762632C>TCA479788276SCN8Ac.2500C>T (p.Leu834=)
c.347C>T
c.504C>T
n.2628C>T
c.2533C>T (p.Leu845=)
 ClinVar dbSNP
12g.51762633T>ACA384884490SCN8Ac.2501T>A (p.Leu834Gln)
c.348T>A
c.505T>A
n.2629T>A
c.2534T>A (p.Leu845Gln)
12g.51762633T>CCA384884493SCN8Ac.2501T>C (p.Leu834Pro)
c.348T>C
c.505T>C
n.2629T>C
c.2534T>C (p.Leu845Pro)
12g.51762633T>GCA384884496SCN8Ac.2501T>G (p.Leu834Arg)
c.348T>G
c.505T>G
n.2629T>G
c.2534T>G (p.Leu845Arg)
12g.51762634A=CA2036180458SCN8Ac.2502A= (p.Leu834=)
c.349A=
c.506A=
n.2630A=
c.2535A= (p.Leu845=)
12g.51762634A>CCA479788277SCN8Ac.2502A>C (p.Leu834=)
c.349A>C
c.506A>C
n.2630A>C
c.2535A>C (p.Leu845=)
12g.51762634A>GCA6571478SCN8Ac.2502A>G (p.Leu834=)
c.349A>G
c.506A>G
n.2630A>G
c.2535A>G (p.Leu845=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51762634A>TCA479788278SCN8Ac.2502A>T (p.Leu834=)
c.349A>T
c.506A>T
n.2630A>T
c.2535A>T (p.Leu845=)
12g.51762635G>ACA384884511SCN8Ac.2503G>A (p.Ala835Thr)
c.350G>A
c.507G>A
n.2631G>A
c.2536G>A (p.Ala846Thr)
12g.51762635G>CCA384884513SCN8Ac.2503G>C (p.Ala835Pro)
c.350G>C
c.507G>C
n.2631G>C
c.2536G>C (p.Ala846Pro)
12g.51762635G>TCA384884516SCN8Ac.2503G>T (p.Ala835Ser)
c.350G>T
c.507G>T
n.2631G>T
c.2536G>T (p.Ala846Ser)
12g.51762636C>ACA384884526SCN8Ac.2504C>A (p.Ala835Glu)
c.351C>A
c.508C>A
n.2632C>A
c.2537C>A (p.Ala846Glu)
12g.51762636C>GCA384884529SCN8Ac.2504C>G (p.Ala835Gly)
c.351C>G
c.508C>G
n.2632C>G
c.2537C>G (p.Ala846Gly)
12g.51762636C>TCA384884532SCN8Ac.2504C>T (p.Ala835Val)
c.351C>T
c.508C>T
n.2632C>T
c.2537C>T (p.Ala846Val)
12g.51762637A>CCA479788279SCN8Ac.2505A>C (p.Ala835=)
c.352A>C
c.509A>C
n.2633A>C
c.2538A>C (p.Ala846=)
12g.51762637A>GCA479788280SCN8Ac.2505A>G (p.Ala835=)
c.352A>G
c.509A>G
n.2633A>G
c.2538A>G (p.Ala846=)
12g.51762637A>TCA479788281SCN8Ac.2505A>T (p.Ala835=)
c.352A>T
c.509A>T
n.2633A>T
c.2538A>T (p.Ala846=)
12g.51762638G>ACA384884536SCN8Ac.2506G>A (p.Asp836Asn)
c.353G>A
c.510G>A
n.2634G>A
c.2539G>A (p.Asp847Asn)
12g.51762638G>CCA384884539SCN8Ac.2506G>C (p.Asp836His)
c.353G>C
c.510G>C
n.2634G>C
c.2539G>C (p.Asp847His)
12g.51762638G>TCA384884544SCN8Ac.2506G>T (p.Asp836Tyr)
c.353G>T
c.510G>T
n.2634G>T
c.2539G>T (p.Asp847Tyr)
12g.51762639A>CCA384884550SCN8Ac.2507A>C (p.Asp836Ala)
c.354A>C
c.511A>C
n.2635A>C
c.2540A>C (p.Asp847Ala)
12g.51762639A>GCA384884566SCN8Ac.2507A>G (p.Asp836Gly)
c.354A>G
c.511A>G
n.2635A>G
c.2540A>G (p.Asp847Gly)
 dbSNP gnomAD v4
12g.51762639A>TCA384884563SCN8Ac.2507A>T (p.Asp836Val)
c.354A>T
c.511A>T
n.2635A>T
c.2540A>T (p.Asp847Val)
 ClinVar
12g.51762640C>ACA384884569SCN8Ac.2508C>A (p.Asp836Glu)
c.355C>A
c.512C>A
n.2636C>A
c.2541C>A (p.Asp847Glu)
12g.51762640C=CA2036180463SCN8Ac.2508C= (p.Asp836=)
c.355C=
c.512C=
n.2636C=
c.2541C= (p.Asp847=)
12g.51762640C>GCA384884579SCN8Ac.2508C>G (p.Asp836Glu)
c.355C>G
c.512C>G
n.2636C>G
c.2541C>G (p.Asp847Glu)
12g.51762640C>TCA6571479SCN8Ac.2508C>T (p.Asp836=)
c.355C>T
c.512C>T
n.2636C>T
c.2541C>T (p.Asp847=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51762641G>ACA384884586SCN8Ac.2509G>A (p.Val837Met)
c.356G>A
c.513G>A
n.2637G>A
c.2542G>A (p.Val848Met)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
12g.51762641G>CCA384884588SCN8Ac.2509G>C (p.Val837Leu)
c.356G>C
c.513G>C
n.2637G>C
c.2542G>C (p.Val848Leu)
12g.51762641G>TCA384884594SCN8Ac.2509G>T (p.Val837Leu)
c.356G>T
c.513G>T
n.2637G>T
c.2542G>T (p.Val848Leu)
12g.51762642T>ACA384884597SCN8Ac.2510T>A (p.Val837Glu)
c.357T>A
c.514T>A
n.2638T>A
c.2543T>A (p.Val848Glu)
12g.51762642T>CCA384884598SCN8Ac.2510T>C (p.Val837Ala)
c.357T>C
c.514T>C
n.2638T>C
c.2543T>C (p.Val848Ala)
12g.51762642T>GCA384884600SCN8Ac.2510T>G (p.Val837Gly)
c.357T>G
c.514T>G
n.2638T>G
c.2543T>G (p.Val848Gly)
12g.51762643G>ACA479788282SCN8Ac.2511G>A (p.Val837=)
c.358G>A
c.515G>A
n.2639G>A
c.2544G>A (p.Val848=)
 ClinVar gnomAD v4 COSMIC COSMIC
12g.51762643G>CCA479788283SCN8Ac.2511G>C (p.Val837=)
c.358G>C
c.515G>C
n.2639G>C
c.2544G>C (p.Val848=)
12g.51762643G>TCA479788284SCN8Ac.2511G>T (p.Val837=)
c.358G>T
c.515G>T
n.2639G>T
c.2544G>T (p.Val848=)
12g.51762644G>ACA384884610SCN8Ac.2512G>A (p.Glu838Lys)
c.359G>A
c.516G>A
n.2640G>A
c.2545G>A (p.Glu849Lys)
12g.51762644G>CCA384884605SCN8Ac.2512G>C (p.Glu838Gln)
c.359G>C
c.516G>C
n.2640G>C
c.2545G>C (p.Glu849Gln)
12g.51762644G=CA2036180472SCN8Ac.2512G= (p.Glu838=)
c.359G=
c.516G=
n.2640G=
c.2545G= (p.Glu849=)
12g.51762644G>TCA384884608SCN8Ac.2512G>T (p.Glu838Ter)
c.359G>T
c.516G>T
n.2640G>T
c.2545G>T (p.Glu849Ter)
 dbSNP
12g.51762645A>CCA384884611SCN8Ac.2513A>C (p.Glu838Ala)
c.360A>C
c.517A>C
n.2641A>C
c.2546A>C (p.Glu849Ala)
12g.51762645A>GCA384884613SCN8Ac.2513A>G (p.Glu838Gly)
c.360A>G
c.517A>G
n.2641A>G
c.2546A>G (p.Glu849Gly)
12g.51762645A>TCA384884617SCN8Ac.2513A>T (p.Glu838Val)
c.360A>T
c.517A>T
n.2641A>T
c.2546A>T (p.Glu849Val)
12g.51762646G>ACA479788285SCN8Ac.2514G>A (p.Glu838=)
c.361G>A
c.518G>A
n.2642G>A
c.2547G>A (p.Glu849=)
 gnomAD v4
12g.51762646G>CCA384884622SCN8Ac.2514G>C (p.Glu838Asp)
c.361G>C
c.518G>C
n.2642G>C
c.2547G>C (p.Glu849Asp)
12g.51762646G>TCA384884636SCN8Ac.2514G>T (p.Glu838Asp)
c.361G>T
c.518G>T
n.2642G>T
c.2547G>T (p.Glu849Asp)
12g.51762647G>ACA384884654SCN8Ac.2515G>A (p.Gly839Arg)
c.362G>A
c.519G>A
n.2643G>A
c.2548G>A (p.Gly850Arg)
12g.51762647G>CCA384884642SCN8Ac.2515G>C (p.Gly839Arg)
c.362G>C
c.519G>C
n.2643G>C
c.2548G>C (p.Gly850Arg)
12g.51762647G>TCA384884644SCN8Ac.2515G>T (p.Gly839Trp)
c.362G>T
c.519G>T
n.2643G>T
c.2548G>T (p.Gly850Trp)
12g.51762648G>ACA384884659SCN8Ac.2516G>A (p.Gly839Glu)
c.363G>A
c.520G>A
n.2644G>A
c.2549G>A (p.Gly850Glu)
12g.51762648G>CCA384884668SCN8Ac.2516G>C (p.Gly839Ala)
c.363G>C
c.520G>C
n.2644G>C
c.2549G>C (p.Gly850Ala)
 COSMIC COSMIC
12g.51762648G>TCA384884669SCN8Ac.2516G>T (p.Gly839Val)
c.363G>T
c.520G>T
n.2644G>T
c.2549G>T (p.Gly850Val)
12g.51762649G>ACA479788286SCN8Ac.2517G>A (p.Gly839=)
c.364G>A
c.521G>A
n.2645G>A
c.2550G>A (p.Gly850=)
12g.51762649G>CCA479788287SCN8Ac.2517G>C (p.Gly839=)
c.364G>C
c.521G>C
n.2645G>C
c.2550G>C (p.Gly850=)
12g.51762649G>TCA479788288SCN8Ac.2517G>T (p.Gly839=)
c.364G>T
c.521G>T
n.2645G>T
c.2550G>T (p.Gly850=)
 ClinVar
12g.51762650C>ACA384884670SCN8Ac.2518C>A (p.Leu840Ile)
c.365C>A
c.522C>A
n.2646C>A
c.2551C>A (p.Leu851Ile)
12g.51762650C=CA2036180475SCN8Ac.2518C= (p.Leu840=)
c.365C=
c.522C=
n.2646C=
c.2551C= (p.Leu851=)
12g.51762650C>GCA384884678SCN8Ac.2518C>G (p.Leu840Val)
c.365C>G
c.522C>G
n.2646C>G
c.2551C>G (p.Leu851Val)
12g.51762650C>TCA384884681SCN8Ac.2518C>T (p.Leu840Phe)
c.365C>T
c.522C>T
n.2646C>T
c.2551C>T (p.Leu851Phe)
 ClinVar dbSNP
12g.51762650dupCA2575160126SCN8Ac.2518dup (p.Leu840ProfsTer?)
c.365dup
c.522dup
n.2646dup
c.2551dup (p.Leu851ProfsTer?)
12g.51762651T>ACA384884685SCN8Ac.2519T>A (p.Leu840His)
c.366T>A
c.523T>A
n.2647T>A
c.2552T>A (p.Leu851His)
12g.51762651T>CCA384884687SCN8Ac.2519T>C (p.Leu840Pro)
c.366T>C
c.523T>C
n.2647T>C
c.2552T>C (p.Leu851Pro)
 ClinVar
12g.51762651T>GCA10583048SCN8Ac.2519T>G (p.Leu840Arg)
c.366T>G
c.523T>G
n.2647T>G
c.2552T>G (p.Leu851Arg)
 ClinVar dbSNP
12g.51762651T=CA2036180480SCN8Ac.2519T= (p.Leu840=)
c.366T=
c.523T=
n.2647T=
c.2552T= (p.Leu851=)
12g.51762652T>ACA479788289SCN8Ac.2520T>A (p.Leu840=)
c.367T>A
c.524T>A
n.2648T>A
c.2553T>A (p.Leu851=)
12g.51762652T>CCA479788290SCN8Ac.2520T>C (p.Leu840=)
c.367T>C
c.524T>C
n.2648T>C
c.2553T>C (p.Leu851=)
12g.51762652T>GCA479788291SCN8Ac.2520T>G (p.Leu840=)
c.367T>G
c.524T>G
n.2648T>G
c.2553T>G (p.Leu851=)
12g.51762653T>ACA384884693SCN8Ac.2521T>A (p.Ser841Thr)
c.368T>A
c.525T>A
n.2649T>A
c.2554T>A (p.Ser852Thr)
12g.51762653T>CCA384884696SCN8Ac.2521T>C (p.Ser841Pro)
c.368T>C
c.525T>C
n.2649T>C
c.2554T>C (p.Ser852Pro)
12g.51762653T>GCA384884704SCN8Ac.2521T>G (p.Ser841Ala)
c.368T>G
c.525T>G
n.2649T>G
c.2554T>G (p.Ser852Ala)
12g.51762654C>ACA384884709SCN8Ac.2522C>A (p.Ser841Ter)
c.369C>A
c.526C>A
n.2650C>A
c.2555C>A (p.Ser852Ter)
 gnomAD v4
12g.51762654C>GCA384884718SCN8Ac.2522C>G (p.Ser841Ter)
c.369C>G
c.526C>G
n.2650C>G
c.2555C>G (p.Ser852Ter)
12g.51762654C>TCA384884714SCN8Ac.2522C>T (p.Ser841Leu)
c.369C>T
c.526C>T
n.2650C>T
c.2555C>T (p.Ser852Leu)
12g.51762655A=CA2036180487SCN8Ac.2523A= (p.Ser841=)
c.370A=
c.527A=
n.2651A=
c.2556A= (p.Ser852=)
12g.51762655A>CCA479788292SCN8Ac.2523A>C (p.Ser841=)
c.370A>C
c.527A>C
n.2651A>C
c.2556A>C (p.Ser852=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51762655A>GCA479788293SCN8Ac.2523A>G (p.Ser841=)
c.370A>G
c.527A>G
n.2651A>G
c.2556A>G (p.Ser852=)
 dbSNP
12g.51762655A>TCA479788294SCN8Ac.2523A>T (p.Ser841=)
c.370A>T
c.527A>T
n.2651A>T
c.2556A>T (p.Ser852=)
12g.51762656G>ACA384884724SCN8Ac.2524G>A (p.Val842Met)
c.371G>A
c.528G>A
n.2652G>A
c.2557G>A (p.Val853Met)
12g.51762656G>CCA384884729SCN8Ac.2524G>C (p.Val842Leu)
c.371G>C
c.528G>C
n.2652G>C
c.2557G>C (p.Val853Leu)
12g.51762656G>TCA384884732SCN8Ac.2524G>T (p.Val842Leu)
c.371G>T
c.528G>T
n.2652G>T
c.2557G>T (p.Val853Leu)
12g.51762657T>ACA384884736SCN8Ac.2525T>A (p.Val842Glu)
c.372T>A
c.529T>A
n.2653T>A
c.2558T>A (p.Val853Glu)
 ClinVar dbSNP
12g.51762657T>CCA384884737SCN8Ac.2525T>C (p.Val842Ala)
c.372T>C
c.529T>C
n.2653T>C
c.2558T>C (p.Val853Ala)
12g.51762657T>GCA384884738SCN8Ac.2525T>G (p.Val842Gly)
c.372T>G
c.529T>G
n.2653T>G
c.2558T>G (p.Val853Gly)
12g.51762657T=CA2036180494SCN8Ac.2525T= (p.Val842=)
c.372T=
c.529T=
n.2653T=
c.2558T= (p.Val853=)
12g.51762658G>ACA479788295SCN8Ac.2526G>A (p.Val842=)
c.373G>A
c.530G>A
n.2654G>A
c.2559G>A (p.Val853=)
12g.51762658G>CCA479788296SCN8Ac.2526G>C (p.Val842=)
c.373G>C
c.530G>C
n.2654G>C
c.2559G>C (p.Val853=)
12g.51762658G=CA2036180501SCN8Ac.2526G= (p.Val842=)
c.373G=
c.530G=
n.2654G=
c.2559G= (p.Val853=)
12g.51762658G>TCA479788297SCN8Ac.2526G>T (p.Val842=)
c.373G>T
c.530G>T
n.2654G>T
c.2559G>T (p.Val853=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51762659C>ACA384884743SCN8Ac.2527C>A (p.Leu843Met)
c.374C>A
c.531C>A
n.2655C>A
c.2560C>A (p.Leu854Met)
 dbSNP gnomAD v3 gnomAD v4
12g.51762659C>GCA384884746SCN8Ac.2527C>G (p.Leu843Val)
c.374C>G
c.531C>G
n.2655C>G
c.2560C>G (p.Leu854Val)
12g.51762659C>TCA479788298SCN8Ac.2527C>T (p.Leu843=)
c.374C>T
c.531C>T
n.2655C>T
c.2560C>T (p.Leu854=)
12g.51762660T>ACA384884751SCN8Ac.2528T>A (p.Leu843Gln)
c.375T>A
c.532T>A
n.2656T>A
c.2561T>A (p.Leu854Gln)
12g.51762660T>CCA384884756SCN8Ac.2528T>C (p.Leu843Pro)
c.375T>C
c.532T>C
n.2656T>C
c.2561T>C (p.Leu854Pro)
12g.51762660T>GCA384884757SCN8Ac.2528T>G (p.Leu843Arg)
c.375T>G
c.532T>G
n.2656T>G
c.2561T>G (p.Leu854Arg)
12g.51762661G>ACA479788299SCN8Ac.2529G>A (p.Leu843=)
c.376G>A
c.533G>A
n.2657G>A
c.2562G>A (p.Leu854=)
 dbSNP gnomAD v4
12g.51762661G>CCA479788301SCN8Ac.2529G>C (p.Leu843=)
c.376G>C
c.533G>C
n.2657G>C
c.2562G>C (p.Leu854=)
12g.51762661G=CA2036180512SCN8Ac.2529G= (p.Leu843=)
c.376G=
c.533G=
n.2657G=
c.2562G= (p.Leu854=)
12g.51762661G>TCA479788300SCN8Ac.2529G>T (p.Leu843=)
c.376G>T
c.533G>T
n.2657G>T
c.2562G>T (p.Leu854=)
12g.51762662C>ACA479788302SCN8Ac.2530C>A (p.Arg844=)
c.377C>A
c.534C>A
n.2658C>A
c.2563C>A (p.Arg855=)
12g.51762662C=CA2036180518SCN8Ac.2530C= (p.Arg844=)
c.377C=
c.534C=
n.2658C=
c.2563C= (p.Arg855=)
12g.51762662C>GCA384884758SCN8Ac.2530C>G (p.Arg844Gly)
c.377C>G
c.534C>G
n.2658C>G
c.2563C>G (p.Arg855Gly)
12g.51762662C>TCA384884759SCN8Ac.2530C>T (p.Arg844Ter)
c.377C>T
c.534C>T
n.2658C>T
c.2563C>T (p.Arg855Ter)
 ClinVar dbSNP
12g.51762663G>ACA384884760SCN8Ac.2531G>A (p.Arg844Gln)
c.378G>A
c.535G>A
n.2659G>A
c.2564G>A (p.Arg855Gln)
 ClinVar dbSNP gnomAD v2 COSMIC COSMIC
12g.51762663G>CCA384884763SCN8Ac.2531G>C (p.Arg844Pro)
c.378G>C
c.535G>C
n.2659G>C
c.2564G>C (p.Arg855Pro)
 ClinVar
12g.51762663G=CA2036180525SCN8Ac.2531G= (p.Arg844=)
c.378G=
c.535G=
n.2659G=
c.2564G= (p.Arg855=)
12g.51762663G>TCA384884761SCN8Ac.2531G>T (p.Arg844Leu)
c.378G>T
c.535G>T
n.2659G>T
c.2564G>T (p.Arg855Leu)
12g.51762664A>CCA479788303SCN8Ac.2532A>C (p.Arg844=)
c.379A>C
c.536A>C
n.2660A>C
c.2565A>C (p.Arg855=)
12g.51762664A>GCA479788304SCN8Ac.2532A>G (p.Arg844=)
c.379A>G
c.536A>G
n.2660A>G
c.2565A>G (p.Arg855=)
12g.51762664A>TCA479788305SCN8Ac.2532A>T (p.Arg844=)
c.379A>T
c.536A>T
n.2660A>T
c.2565A>T (p.Arg855=)
12g.51762665T>ACA384884765SCN8Ac.2533T>A (p.Ser845Thr)
c.380T>A
c.537T>A
n.2661T>A
c.2566T>A (p.Ser856Thr)
12g.51762665T>CCA16042904SCN8Ac.2533T>C (p.Ser845Pro)
c.380T>C
c.537T>C
n.2661T>C
c.2566T>C (p.Ser856Pro)
 ClinVar dbSNP
12g.51762665T>GCA384884770SCN8Ac.2533T>G (p.Ser845Ala)
c.380T>G
c.537T>G
n.2661T>G
c.2566T>G (p.Ser856Ala)
12g.51762665T=CA2036180534SCN8Ac.2533T= (p.Ser845=)
c.380T=
c.537T=
n.2661T=
c.2566T= (p.Ser856=)

Number of alleles fetched