Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.8937224G>ACA383815892PHC1c.2526G>A (p.Met842Ile)
c.2391G>A (p.Met797Ile)
c.547G>A
c.*1376G>A (n.*1376G>A)
c.284-2647G>A (n.284-2647G>A)
c.2502G>A (p.Met834Ile)
c.2577G>A (p.Met859Ile)
c.2553G>A (p.Met851Ile)
c.2427G>A (p.Met809Ile)
c.2421G>A (p.Met807Ile)
c.2370G>A (p.Met790Ile)
c.2403G>A (p.Met801Ile)
c.2376G>A (p.Met792Ile)
c.2352G>A (p.Met784Ile)
12g.8937224G>CCA383815893PHC1c.2526G>C (p.Met842Ile)
c.2391G>C (p.Met797Ile)
c.547G>C
c.*1376G>C (n.*1376G>C)
c.284-2647G>C (n.284-2647G>C)
c.2502G>C (p.Met834Ile)
c.2577G>C (p.Met859Ile)
c.2553G>C (p.Met851Ile)
c.2427G>C (p.Met809Ile)
c.2421G>C (p.Met807Ile)
c.2370G>C (p.Met790Ile)
c.2403G>C (p.Met801Ile)
c.2376G>C (p.Met792Ile)
c.2352G>C (p.Met784Ile)
 gnomAD v4
12g.8937224G>TCA383815895PHC1c.2526G>T (p.Met842Ile)
c.2391G>T (p.Met797Ile)
c.547G>T
c.*1376G>T (n.*1376G>T)
c.284-2647G>T (n.284-2647G>T)
c.2502G>T (p.Met834Ile)
c.2577G>T (p.Met859Ile)
c.2553G>T (p.Met851Ile)
c.2427G>T (p.Met809Ile)
c.2421G>T (p.Met807Ile)
c.2370G>T (p.Met790Ile)
c.2403G>T (p.Met801Ile)
c.2376G>T (p.Met792Ile)
c.2352G>T (p.Met784Ile)
12g.8937225A>CCA383815898PHC1c.2527A>C (p.Lys843Gln)
c.2392A>C (p.Lys798Gln)
c.548A>C
c.*1377A>C (n.*1377A>C)
c.284-2646A>C (n.284-2646A>C)
c.2503A>C (p.Lys835Gln)
c.2578A>C (p.Lys860Gln)
c.2554A>C (p.Lys852Gln)
c.2428A>C (p.Lys810Gln)
c.2422A>C (p.Lys808Gln)
c.2371A>C (p.Lys791Gln)
c.2404A>C (p.Lys802Gln)
c.2377A>C (p.Lys793Gln)
c.2353A>C (p.Lys785Gln)
12g.8937225A>GCA383815900PHC1c.2527A>G (p.Lys843Glu)
c.2392A>G (p.Lys798Glu)
c.548A>G
c.*1377A>G (n.*1377A>G)
c.284-2646A>G (n.284-2646A>G)
c.2503A>G (p.Lys835Glu)
c.2578A>G (p.Lys860Glu)
c.2554A>G (p.Lys852Glu)
c.2428A>G (p.Lys810Glu)
c.2422A>G (p.Lys808Glu)
c.2371A>G (p.Lys791Glu)
c.2404A>G (p.Lys802Glu)
c.2377A>G (p.Lys793Glu)
c.2353A>G (p.Lys785Glu)
12g.8937225A>TCA383815902PHC1c.2527A>T (p.Lys843Ter)
c.2392A>T (p.Lys798Ter)
c.548A>T
c.*1377A>T (n.*1377A>T)
c.284-2646A>T (n.284-2646A>T)
c.2503A>T (p.Lys835Ter)
c.2578A>T (p.Lys860Ter)
c.2554A>T (p.Lys852Ter)
c.2428A>T (p.Lys810Ter)
c.2422A>T (p.Lys808Ter)
c.2371A>T (p.Lys791Ter)
c.2404A>T (p.Lys802Ter)
c.2377A>T (p.Lys793Ter)
c.2353A>T (p.Lys785Ter)
12g.8937226A>CCA383815903PHC1c.2528A>C (p.Lys843Thr)
c.2393A>C (p.Lys798Thr)
c.549A>C
c.*1378A>C (n.*1378A>C)
c.284-2645A>C (n.284-2645A>C)
c.2504A>C (p.Lys835Thr)
c.2579A>C (p.Lys860Thr)
c.2555A>C (p.Lys852Thr)
c.2429A>C (p.Lys810Thr)
c.2423A>C (p.Lys808Thr)
c.2372A>C (p.Lys791Thr)
c.2405A>C (p.Lys802Thr)
c.2378A>C (p.Lys793Thr)
c.2354A>C (p.Lys785Thr)
12g.8937226A>GCA383815904PHC1c.2528A>G (p.Lys843Arg)
c.2393A>G (p.Lys798Arg)
c.549A>G
c.*1378A>G (n.*1378A>G)
c.284-2645A>G (n.284-2645A>G)
c.2504A>G (p.Lys835Arg)
c.2579A>G (p.Lys860Arg)
c.2555A>G (p.Lys852Arg)
c.2429A>G (p.Lys810Arg)
c.2423A>G (p.Lys808Arg)
c.2372A>G (p.Lys791Arg)
c.2405A>G (p.Lys802Arg)
c.2378A>G (p.Lys793Arg)
c.2354A>G (p.Lys785Arg)
12g.8937226A>TCA383815906PHC1c.2528A>T (p.Lys843Ile)
c.2393A>T (p.Lys798Ile)
c.549A>T
c.*1378A>T (n.*1378A>T)
c.284-2645A>T (n.284-2645A>T)
c.2504A>T (p.Lys835Ile)
c.2579A>T (p.Lys860Ile)
c.2555A>T (p.Lys852Ile)
c.2429A>T (p.Lys810Ile)
c.2423A>T (p.Lys808Ile)
c.2372A>T (p.Lys791Ile)
c.2405A>T (p.Lys802Ile)
c.2378A>T (p.Lys793Ile)
c.2354A>T (p.Lys785Ile)
12g.8937226_8937228delinsAAGCA2015272693PHC1c.2528_2530delinsAAG (p.Lys843=)
c.2393_2395delinsAAG (p.Lys798=)
c.549_551delinsAAG
c.*1378_*1380delinsAAG (n.*1378_*1380delinsAAG)
c.284-2645_284-2643delinsAAG (n.284-2645_284-2643delinsAAG)
c.2504_2506delinsAAG (p.Lys835=)
c.2579_2581delinsAAG (p.Lys860=)
c.2555_2557delinsAAG (p.Lys852=)
c.2429_2431delinsAAG (p.Lys810=)
c.2423_2425delinsAAG (p.Lys808=)
c.2372_2374delinsAAG (p.Lys791=)
c.2405_2407delinsAAG (p.Lys802=)
c.2378_2380delinsAAG (p.Lys793=)
c.2354_2356delinsAAG (p.Lys785=)
12g.8937227A=CA2015272694PHC1c.2529A= (p.Lys843=)
c.2394A= (p.Lys798=)
c.550A=
c.*1379A= (n.*1379A=)
c.284-2644A= (n.284-2644A=)
c.2505A= (p.Lys835=)
c.2580A= (p.Lys860=)
c.2556A= (p.Lys852=)
c.2430A= (p.Lys810=)
c.2424A= (p.Lys808=)
c.2373A= (p.Lys791=)
c.2406A= (p.Lys802=)
c.2379A= (p.Lys793=)
c.2355A= (p.Lys785=)
12g.8937227A>CCA383815909PHC1c.2529A>C (p.Lys843Asn)
c.2394A>C (p.Lys798Asn)
c.550A>C
c.*1379A>C (n.*1379A>C)
c.284-2644A>C (n.284-2644A>C)
c.2505A>C (p.Lys835Asn)
c.2580A>C (p.Lys860Asn)
c.2556A>C (p.Lys852Asn)
c.2430A>C (p.Lys810Asn)
c.2424A>C (p.Lys808Asn)
c.2373A>C (p.Lys791Asn)
c.2406A>C (p.Lys802Asn)
c.2379A>C (p.Lys793Asn)
c.2355A>C (p.Lys785Asn)
12g.8937227A>GCA6437253PHC1c.2529A>G (p.Lys843=)
c.2394A>G (p.Lys798=)
c.550A>G
c.*1379A>G (n.*1379A>G)
c.284-2644A>G (n.284-2644A>G)
c.2505A>G (p.Lys835=)
c.2580A>G (p.Lys860=)
c.2556A>G (p.Lys852=)
c.2430A>G (p.Lys810=)
c.2424A>G (p.Lys808=)
c.2373A>G (p.Lys791=)
c.2406A>G (p.Lys802=)
c.2379A>G (p.Lys793=)
c.2355A>G (p.Lys785=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.8937227A>TCA383815908PHC1c.2529A>T (p.Lys843Asn)
c.2394A>T (p.Lys798Asn)
c.550A>T
c.*1379A>T (n.*1379A>T)
c.284-2644A>T (n.284-2644A>T)
c.2505A>T (p.Lys835Asn)
c.2580A>T (p.Lys860Asn)
c.2556A>T (p.Lys852Asn)
c.2430A>T (p.Lys810Asn)
c.2424A>T (p.Lys808Asn)
c.2373A>T (p.Lys791Asn)
c.2406A>T (p.Lys802Asn)
c.2379A>T (p.Lys793Asn)
c.2355A>T (p.Lys785Asn)
12g.8937229_8937230delCA693181110PHC1c.2531_2532del (p.Glu844ValfsTer20)
c.2396_2397del (p.Glu799ValfsTer20)
c.552_553del
c.*1381_*1382del (n.*1381_*1382del)
c.284-2642_284-2641del (n.284-2642_284-2641del)
c.2507_2508del (p.Glu836ValfsTer20)
c.2582_2583del (p.Glu861ValfsTer20)
c.2558_2559del (p.Glu853ValfsTer20)
c.2432_2433del (p.Glu811ValfsTer20)
c.2426_2427del (p.Glu809ValfsTer20)
c.2375_2376del (p.Glu792ValfsTer20)
c.2408_2409del (p.Glu803ValfsTer20)
c.2381_2382del (p.Glu794ValfsTer20)
c.2357_2358del (p.Glu786ValfsTer20)
 dbSNP gnomAD v3 gnomAD v4
12g.8937228G>ACA383815914PHC1c.2530G>A (p.Glu844Lys)
c.2395G>A (p.Glu799Lys)
c.551G>A
c.*1380G>A (n.*1380G>A)
c.284-2643G>A (n.284-2643G>A)
c.2506G>A (p.Glu836Lys)
c.2581G>A (p.Glu861Lys)
c.2557G>A (p.Glu853Lys)
c.2431G>A (p.Glu811Lys)
c.2425G>A (p.Glu809Lys)
c.2374G>A (p.Glu792Lys)
c.2407G>A (p.Glu803Lys)
c.2380G>A (p.Glu794Lys)
c.2356G>A (p.Glu786Lys)
12g.8937228G>CCA383815912PHC1c.2530G>C (p.Glu844Gln)
c.2395G>C (p.Glu799Gln)
c.551G>C
c.*1380G>C (n.*1380G>C)
c.284-2643G>C (n.284-2643G>C)
c.2506G>C (p.Glu836Gln)
c.2581G>C (p.Glu861Gln)
c.2557G>C (p.Glu853Gln)
c.2431G>C (p.Glu811Gln)
c.2425G>C (p.Glu809Gln)
c.2374G>C (p.Glu792Gln)
c.2407G>C (p.Glu803Gln)
c.2380G>C (p.Glu794Gln)
c.2356G>C (p.Glu786Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.8937228G=CA2015272695PHC1c.2530G= (p.Glu844=)
c.2395G= (p.Glu799=)
c.551G=
c.*1380G= (n.*1380G=)
c.284-2643G= (n.284-2643G=)
c.2506G= (p.Glu836=)
c.2581G= (p.Glu861=)
c.2557G= (p.Glu853=)
c.2431G= (p.Glu811=)
c.2425G= (p.Glu809=)
c.2374G= (p.Glu792=)
c.2407G= (p.Glu803=)
c.2380G= (p.Glu794=)
c.2356G= (p.Glu786=)
12g.8937228G>TCA383815915PHC1c.2530G>T (p.Glu844Ter)
c.2395G>T (p.Glu799Ter)
c.551G>T
c.*1380G>T (n.*1380G>T)
c.284-2643G>T (n.284-2643G>T)
c.2506G>T (p.Glu836Ter)
c.2581G>T (p.Glu861Ter)
c.2557G>T (p.Glu853Ter)
c.2431G>T (p.Glu811Ter)
c.2425G>T (p.Glu809Ter)
c.2374G>T (p.Glu792Ter)
c.2407G>T (p.Glu803Ter)
c.2380G>T (p.Glu794Ter)
c.2356G>T (p.Glu786Ter)
12g.8937229A=CA2015272696PHC1c.2531A= (p.Glu844=)
c.2396A= (p.Glu799=)
c.552A=
c.*1381A= (n.*1381A=)
c.284-2642A= (n.284-2642A=)
c.2507A= (p.Glu836=)
c.2582A= (p.Glu861=)
c.2558A= (p.Glu853=)
c.2432A= (p.Glu811=)
c.2426A= (p.Glu809=)
c.2375A= (p.Glu792=)
c.2408A= (p.Glu803=)
c.2381A= (p.Glu794=)
c.2357A= (p.Glu786=)
12g.8937229A>CCA6437254PHC1c.2531A>C (p.Glu844Ala)
c.2396A>C (p.Glu799Ala)
c.552A>C
c.*1381A>C (n.*1381A>C)
c.284-2642A>C (n.284-2642A>C)
c.2507A>C (p.Glu836Ala)
c.2582A>C (p.Glu861Ala)
c.2558A>C (p.Glu853Ala)
c.2432A>C (p.Glu811Ala)
c.2426A>C (p.Glu809Ala)
c.2375A>C (p.Glu792Ala)
c.2408A>C (p.Glu803Ala)
c.2381A>C (p.Glu794Ala)
c.2357A>C (p.Glu786Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.8937229A>GCA383815918PHC1c.2531A>G (p.Glu844Gly)
c.2396A>G (p.Glu799Gly)
c.552A>G
c.*1381A>G (n.*1381A>G)
c.284-2642A>G (n.284-2642A>G)
c.2507A>G (p.Glu836Gly)
c.2582A>G (p.Glu861Gly)
c.2558A>G (p.Glu853Gly)
c.2432A>G (p.Glu811Gly)
c.2426A>G (p.Glu809Gly)
c.2375A>G (p.Glu792Gly)
c.2408A>G (p.Glu803Gly)
c.2381A>G (p.Glu794Gly)
c.2357A>G (p.Glu786Gly)
12g.8937229A>TCA383815920PHC1c.2531A>T (p.Glu844Val)
c.2396A>T (p.Glu799Val)
c.552A>T
c.*1381A>T (n.*1381A>T)
c.284-2642A>T (n.284-2642A>T)
c.2507A>T (p.Glu836Val)
c.2582A>T (p.Glu861Val)
c.2558A>T (p.Glu853Val)
c.2432A>T (p.Glu811Val)
c.2426A>T (p.Glu809Val)
c.2375A>T (p.Glu792Val)
c.2408A>T (p.Glu803Val)
c.2381A>T (p.Glu794Val)
c.2357A>T (p.Glu786Val)
12g.8937230G>ACA478307434PHC1c.2532G>A (p.Glu844=)
c.2397G>A (p.Glu799=)
c.553G>A
c.*1382G>A (n.*1382G>A)
c.284-2641G>A (n.284-2641G>A)
c.2508G>A (p.Glu836=)
c.2583G>A (p.Glu861=)
c.2559G>A (p.Glu853=)
c.2433G>A (p.Glu811=)
c.2427G>A (p.Glu809=)
c.2376G>A (p.Glu792=)
c.2409G>A (p.Glu803=)
c.2382G>A (p.Glu794=)
c.2358G>A (p.Glu786=)
12g.8937230G>CCA383815922PHC1c.2532G>C (p.Glu844Asp)
c.2397G>C (p.Glu799Asp)
c.553G>C
c.*1382G>C (n.*1382G>C)
c.284-2641G>C (n.284-2641G>C)
c.2508G>C (p.Glu836Asp)
c.2583G>C (p.Glu861Asp)
c.2559G>C (p.Glu853Asp)
c.2433G>C (p.Glu811Asp)
c.2427G>C (p.Glu809Asp)
c.2376G>C (p.Glu792Asp)
c.2409G>C (p.Glu803Asp)
c.2382G>C (p.Glu794Asp)
c.2358G>C (p.Glu786Asp)
 dbSNP gnomAD v4
12g.8937230G=CA2015272697PHC1c.2532G= (p.Glu844=)
c.2397G= (p.Glu799=)
c.553G=
c.*1382G= (n.*1382G=)
c.284-2641G= (n.284-2641G=)
c.2508G= (p.Glu836=)
c.2583G= (p.Glu861=)
c.2559G= (p.Glu853=)
c.2433G= (p.Glu811=)
c.2427G= (p.Glu809=)
c.2376G= (p.Glu792=)
c.2409G= (p.Glu803=)
c.2382G= (p.Glu794=)
c.2358G= (p.Glu786=)
12g.8937230G>TCA383815923PHC1c.2532G>T (p.Glu844Asp)
c.2397G>T (p.Glu799Asp)
c.553G>T
c.*1382G>T (n.*1382G>T)
c.284-2641G>T (n.284-2641G>T)
c.2508G>T (p.Glu836Asp)
c.2583G>T (p.Glu861Asp)
c.2559G>T (p.Glu853Asp)
c.2433G>T (p.Glu811Asp)
c.2427G>T (p.Glu809Asp)
c.2376G>T (p.Glu792Asp)
c.2409G>T (p.Glu803Asp)
c.2382G>T (p.Glu794Asp)
c.2358G>T (p.Glu786Asp)
 gnomAD v4
12g.8937231T>ACA383815927PHC1c.2533T>A (p.Phe845Ile)
c.2398T>A (p.Phe800Ile)
c.554T>A
c.*1383T>A (n.*1383T>A)
c.284-2640T>A (n.284-2640T>A)
c.2509T>A (p.Phe837Ile)
c.2584T>A (p.Phe862Ile)
c.2560T>A (p.Phe854Ile)
c.2434T>A (p.Phe812Ile)
c.2428T>A (p.Phe810Ile)
c.2377T>A (p.Phe793Ile)
c.2410T>A (p.Phe804Ile)
c.2383T>A (p.Phe795Ile)
c.2359T>A (p.Phe787Ile)
12g.8937231T>CCA383815928PHC1c.2533T>C (p.Phe845Leu)
c.2398T>C (p.Phe800Leu)
c.554T>C
c.*1383T>C (n.*1383T>C)
c.284-2640T>C (n.284-2640T>C)
c.2509T>C (p.Phe837Leu)
c.2584T>C (p.Phe862Leu)
c.2560T>C (p.Phe854Leu)
c.2434T>C (p.Phe812Leu)
c.2428T>C (p.Phe810Leu)
c.2377T>C (p.Phe793Leu)
c.2410T>C (p.Phe804Leu)
c.2383T>C (p.Phe795Leu)
c.2359T>C (p.Phe787Leu)
 gnomAD v4
12g.8937231T>GCA383815930PHC1c.2533T>G (p.Phe845Val)
c.2398T>G (p.Phe800Val)
c.554T>G
c.*1383T>G (n.*1383T>G)
c.284-2640T>G (n.284-2640T>G)
c.2509T>G (p.Phe837Val)
c.2584T>G (p.Phe862Val)
c.2560T>G (p.Phe854Val)
c.2434T>G (p.Phe812Val)
c.2428T>G (p.Phe810Val)
c.2377T>G (p.Phe793Val)
c.2410T>G (p.Phe804Val)
c.2383T>G (p.Phe795Val)
c.2359T>G (p.Phe787Val)
12g.8937232T>ACA383815932PHC1c.2534T>A (p.Phe845Tyr)
c.2399T>A (p.Phe800Tyr)
c.555T>A
c.*1384T>A (n.*1384T>A)
c.284-2639T>A (n.284-2639T>A)
c.2510T>A (p.Phe837Tyr)
c.2585T>A (p.Phe862Tyr)
c.2561T>A (p.Phe854Tyr)
c.2435T>A (p.Phe812Tyr)
c.2429T>A (p.Phe810Tyr)
c.2378T>A (p.Phe793Tyr)
c.2411T>A (p.Phe804Tyr)
c.2384T>A (p.Phe795Tyr)
c.2360T>A (p.Phe787Tyr)
12g.8937232T>CCA383815934PHC1c.2534T>C (p.Phe845Ser)
c.2399T>C (p.Phe800Ser)
c.555T>C
c.*1384T>C (n.*1384T>C)
c.284-2639T>C (n.284-2639T>C)
c.2510T>C (p.Phe837Ser)
c.2585T>C (p.Phe862Ser)
c.2561T>C (p.Phe854Ser)
c.2435T>C (p.Phe812Ser)
c.2429T>C (p.Phe810Ser)
c.2378T>C (p.Phe793Ser)
c.2411T>C (p.Phe804Ser)
c.2384T>C (p.Phe795Ser)
c.2360T>C (p.Phe787Ser)
12g.8937232T>GCA383815935PHC1c.2534T>G (p.Phe845Cys)
c.2399T>G (p.Phe800Cys)
c.555T>G
c.*1384T>G (n.*1384T>G)
c.284-2639T>G (n.284-2639T>G)
c.2510T>G (p.Phe837Cys)
c.2585T>G (p.Phe862Cys)
c.2561T>G (p.Phe854Cys)
c.2435T>G (p.Phe812Cys)
c.2429T>G (p.Phe810Cys)
c.2378T>G (p.Phe793Cys)
c.2411T>G (p.Phe804Cys)
c.2384T>G (p.Phe795Cys)
c.2360T>G (p.Phe787Cys)
12g.8937233T>ACA383815936PHC1c.2535T>A (p.Phe845Leu)
c.2400T>A (p.Phe800Leu)
c.556T>A
c.*1385T>A (n.*1385T>A)
c.284-2638T>A (n.284-2638T>A)
c.2511T>A (p.Phe837Leu)
c.2586T>A (p.Phe862Leu)
c.2562T>A (p.Phe854Leu)
c.2436T>A (p.Phe812Leu)
c.2430T>A (p.Phe810Leu)
c.2379T>A (p.Phe793Leu)
c.2412T>A (p.Phe804Leu)
c.2385T>A (p.Phe795Leu)
c.2361T>A (p.Phe787Leu)
12g.8937233T>CCA478307469PHC1c.2535T>C (p.Phe845=)
c.2400T>C (p.Phe800=)
c.556T>C
c.*1385T>C (n.*1385T>C)
c.284-2638T>C (n.284-2638T>C)
c.2511T>C (p.Phe837=)
c.2586T>C (p.Phe862=)
c.2562T>C (p.Phe854=)
c.2436T>C (p.Phe812=)
c.2430T>C (p.Phe810=)
c.2379T>C (p.Phe793=)
c.2412T>C (p.Phe804=)
c.2385T>C (p.Phe795=)
c.2361T>C (p.Phe787=)
12g.8937233T>GCA383815938PHC1c.2535T>G (p.Phe845Leu)
c.2400T>G (p.Phe800Leu)
c.556T>G
c.*1385T>G (n.*1385T>G)
c.284-2638T>G (n.284-2638T>G)
c.2511T>G (p.Phe837Leu)
c.2586T>G (p.Phe862Leu)
c.2562T>G (p.Phe854Leu)
c.2436T>G (p.Phe812Leu)
c.2430T>G (p.Phe810Leu)
c.2379T>G (p.Phe793Leu)
c.2412T>G (p.Phe804Leu)
c.2385T>G (p.Phe795Leu)
c.2361T>G (p.Phe787Leu)
 gnomAD v4
12g.8937234C>ACA6437255PHC1c.2536C>A (p.Gln846Lys)
c.2401C>A (p.Gln801Lys)
c.557C>A
c.*1386C>A (n.*1386C>A)
c.284-2637C>A (n.284-2637C>A)
c.2512C>A (p.Gln838Lys)
c.2587C>A (p.Gln863Lys)
c.2563C>A (p.Gln855Lys)
c.2437C>A (p.Gln813Lys)
c.2431C>A (p.Gln811Lys)
c.2380C>A (p.Gln794Lys)
c.2413C>A (p.Gln805Lys)
c.2386C>A (p.Gln796Lys)
c.2362C>A (p.Gln788Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.8937234C=CA2015272698PHC1c.2536C= (p.Gln846=)
c.2401C= (p.Gln801=)
c.557C=
c.*1386C= (n.*1386C=)
c.284-2637C= (n.284-2637C=)
c.2512C= (p.Gln838=)
c.2587C= (p.Gln863=)
c.2563C= (p.Gln855=)
c.2437C= (p.Gln813=)
c.2431C= (p.Gln811=)
c.2380C= (p.Gln794=)
c.2413C= (p.Gln805=)
c.2386C= (p.Gln796=)
c.2362C= (p.Gln788=)
12g.8937234C>GCA383815941PHC1c.2536C>G (p.Gln846Glu)
c.2401C>G (p.Gln801Glu)
c.557C>G
c.*1386C>G (n.*1386C>G)
c.284-2637C>G (n.284-2637C>G)
c.2512C>G (p.Gln838Glu)
c.2587C>G (p.Gln863Glu)
c.2563C>G (p.Gln855Glu)
c.2437C>G (p.Gln813Glu)
c.2431C>G (p.Gln811Glu)
c.2380C>G (p.Gln794Glu)
c.2413C>G (p.Gln805Glu)
c.2386C>G (p.Gln796Glu)
c.2362C>G (p.Gln788Glu)
 dbSNP
12g.8937234C>TCA383815943PHC1c.2536C>T (p.Gln846Ter)
c.2401C>T (p.Gln801Ter)
c.557C>T
c.*1386C>T (n.*1386C>T)
c.284-2637C>T (n.284-2637C>T)
c.2512C>T (p.Gln838Ter)
c.2587C>T (p.Gln863Ter)
c.2563C>T (p.Gln855Ter)
c.2437C>T (p.Gln813Ter)
c.2431C>T (p.Gln811Ter)
c.2380C>T (p.Gln794Ter)
c.2413C>T (p.Gln805Ter)
c.2386C>T (p.Gln796Ter)
c.2362C>T (p.Gln788Ter)
12g.8937235A>CCA383815945PHC1c.2537A>C (p.Gln846Pro)
c.2402A>C (p.Gln801Pro)
c.558A>C
c.*1387A>C (n.*1387A>C)
c.284-2636A>C (n.284-2636A>C)
c.2513A>C (p.Gln838Pro)
c.2588A>C (p.Gln863Pro)
c.2564A>C (p.Gln855Pro)
c.2438A>C (p.Gln813Pro)
c.2432A>C (p.Gln811Pro)
c.2381A>C (p.Gln794Pro)
c.2414A>C (p.Gln805Pro)
c.2387A>C (p.Gln796Pro)
c.2363A>C (p.Gln788Pro)
12g.8937235A>GCA383815947PHC1c.2537A>G (p.Gln846Arg)
c.2402A>G (p.Gln801Arg)
c.558A>G
c.*1387A>G (n.*1387A>G)
c.284-2636A>G (n.284-2636A>G)
c.2513A>G (p.Gln838Arg)
c.2588A>G (p.Gln863Arg)
c.2564A>G (p.Gln855Arg)
c.2438A>G (p.Gln813Arg)
c.2432A>G (p.Gln811Arg)
c.2381A>G (p.Gln794Arg)
c.2414A>G (p.Gln805Arg)
c.2387A>G (p.Gln796Arg)
c.2363A>G (p.Gln788Arg)
12g.8937235A>TCA383815949PHC1c.2537A>T (p.Gln846Leu)
c.2402A>T (p.Gln801Leu)
c.558A>T
c.*1387A>T (n.*1387A>T)
c.284-2636A>T (n.284-2636A>T)
c.2513A>T (p.Gln838Leu)
c.2588A>T (p.Gln863Leu)
c.2564A>T (p.Gln855Leu)
c.2438A>T (p.Gln813Leu)
c.2432A>T (p.Gln811Leu)
c.2381A>T (p.Gln794Leu)
c.2414A>T (p.Gln805Leu)
c.2387A>T (p.Gln796Leu)
c.2363A>T (p.Gln788Leu)
12g.8937236A=CA2015272699PHC1c.2538A= (p.Gln846=)
c.2403A= (p.Gln801=)
c.559A=
c.*1388A= (n.*1388A=)
c.284-2635A= (n.284-2635A=)
c.2514A= (p.Gln838=)
c.2589A= (p.Gln863=)
c.2565A= (p.Gln855=)
c.2439A= (p.Gln813=)
c.2433A= (p.Gln811=)
c.2382A= (p.Gln794=)
c.2415A= (p.Gln805=)
c.2388A= (p.Gln796=)
c.2364A= (p.Gln788=)
12g.8937236A>CCA383815951PHC1c.2538A>C (p.Gln846His)
c.2403A>C (p.Gln801His)
c.559A>C
c.*1388A>C (n.*1388A>C)
c.284-2635A>C (n.284-2635A>C)
c.2514A>C (p.Gln838His)
c.2589A>C (p.Gln863His)
c.2565A>C (p.Gln855His)
c.2439A>C (p.Gln813His)
c.2433A>C (p.Gln811His)
c.2382A>C (p.Gln794His)
c.2415A>C (p.Gln805His)
c.2388A>C (p.Gln796His)
c.2364A>C (p.Gln788His)
12g.8937236A>GCA6437256PHC1c.2538A>G (p.Gln846=)
c.2403A>G (p.Gln801=)
c.559A>G
c.*1388A>G (n.*1388A>G)
c.284-2635A>G (n.284-2635A>G)
c.2514A>G (p.Gln838=)
c.2589A>G (p.Gln863=)
c.2565A>G (p.Gln855=)
c.2439A>G (p.Gln813=)
c.2433A>G (p.Gln811=)
c.2382A>G (p.Gln794=)
c.2415A>G (p.Gln805=)
c.2388A>G (p.Gln796=)
c.2364A>G (p.Gln788=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.8937236A>TCA383815954PHC1c.2538A>T (p.Gln846His)
c.2403A>T (p.Gln801His)
c.559A>T
c.*1388A>T (n.*1388A>T)
c.284-2635A>T (n.284-2635A>T)
c.2514A>T (p.Gln838His)
c.2589A>T (p.Gln863His)
c.2565A>T (p.Gln855His)
c.2439A>T (p.Gln813His)
c.2433A>T (p.Gln811His)
c.2382A>T (p.Gln794His)
c.2415A>T (p.Gln805His)
c.2388A>T (p.Gln796His)
c.2364A>T (p.Gln788His)
12g.8937237G>ACA383815956PHC1c.2539G>A (p.Glu847Lys)
c.2404G>A (p.Glu802Lys)
c.560G>A
c.*1389G>A (n.*1389G>A)
c.284-2634G>A (n.284-2634G>A)
c.2515G>A (p.Glu839Lys)
c.2590G>A (p.Glu864Lys)
c.2566G>A (p.Glu856Lys)
c.2440G>A (p.Glu814Lys)
c.2434G>A (p.Glu812Lys)
c.2383G>A (p.Glu795Lys)
c.2416G>A (p.Glu806Lys)
c.2389G>A (p.Glu797Lys)
c.2365G>A (p.Glu789Lys)
12g.8937237G>CCA232656563PHC1c.2539G>C (p.Glu847Gln)
c.2404G>C (p.Glu802Gln)
c.560G>C
c.*1389G>C (n.*1389G>C)
c.284-2634G>C (n.284-2634G>C)
c.2515G>C (p.Glu839Gln)
c.2590G>C (p.Glu864Gln)
c.2566G>C (p.Glu856Gln)
c.2440G>C (p.Glu814Gln)
c.2434G>C (p.Glu812Gln)
c.2383G>C (p.Glu795Gln)
c.2416G>C (p.Glu806Gln)
c.2389G>C (p.Glu797Gln)
c.2365G>C (p.Glu789Gln)
 dbSNP gnomAD v3 gnomAD v4
12g.8937237G=CA2015272700PHC1c.2539G= (p.Glu847=)
c.2404G= (p.Glu802=)
c.560G=
c.*1389G= (n.*1389G=)
c.284-2634G= (n.284-2634G=)
c.2515G= (p.Glu839=)
c.2590G= (p.Glu864=)
c.2566G= (p.Glu856=)
c.2440G= (p.Glu814=)
c.2434G= (p.Glu812=)
c.2383G= (p.Glu795=)
c.2416G= (p.Glu806=)
c.2389G= (p.Glu797=)
c.2365G= (p.Glu789=)
12g.8937237G>TCA383815960PHC1c.2539G>T (p.Glu847Ter)
c.2404G>T (p.Glu802Ter)
c.560G>T
c.*1389G>T (n.*1389G>T)
c.284-2634G>T (n.284-2634G>T)
c.2515G>T (p.Glu839Ter)
c.2590G>T (p.Glu864Ter)
c.2566G>T (p.Glu856Ter)
c.2440G>T (p.Glu814Ter)
c.2434G>T (p.Glu812Ter)
c.2383G>T (p.Glu795Ter)
c.2416G>T (p.Glu806Ter)
c.2389G>T (p.Glu797Ter)
c.2365G>T (p.Glu789Ter)
12g.8937238A>CCA383815962PHC1c.2540A>C (p.Glu847Ala)
c.2405A>C (p.Glu802Ala)
c.561A>C
c.*1390A>C (n.*1390A>C)
c.284-2633A>C (n.284-2633A>C)
c.2516A>C (p.Glu839Ala)
c.2591A>C (p.Glu864Ala)
c.2567A>C (p.Glu856Ala)
c.2441A>C (p.Glu814Ala)
c.2435A>C (p.Glu812Ala)
c.2384A>C (p.Glu795Ala)
c.2417A>C (p.Glu806Ala)
c.2390A>C (p.Glu797Ala)
c.2366A>C (p.Glu789Ala)
12g.8937238A>GCA383815964PHC1c.2540A>G (p.Glu847Gly)
c.2405A>G (p.Glu802Gly)
c.561A>G
c.*1390A>G (n.*1390A>G)
c.284-2633A>G (n.284-2633A>G)
c.2516A>G (p.Glu839Gly)
c.2591A>G (p.Glu864Gly)
c.2567A>G (p.Glu856Gly)
c.2441A>G (p.Glu814Gly)
c.2435A>G (p.Glu812Gly)
c.2384A>G (p.Glu795Gly)
c.2417A>G (p.Glu806Gly)
c.2390A>G (p.Glu797Gly)
c.2366A>G (p.Glu789Gly)
 gnomAD v4
12g.8937238A>TCA383815966PHC1c.2540A>T (p.Glu847Val)
c.2405A>T (p.Glu802Val)
c.561A>T
c.*1390A>T (n.*1390A>T)
c.284-2633A>T (n.284-2633A>T)
c.2516A>T (p.Glu839Val)
c.2591A>T (p.Glu864Val)
c.2567A>T (p.Glu856Val)
c.2441A>T (p.Glu814Val)
c.2435A>T (p.Glu812Val)
c.2384A>T (p.Glu795Val)
c.2417A>T (p.Glu806Val)
c.2390A>T (p.Glu797Val)
c.2366A>T (p.Glu789Val)
12g.8937239A>CCA383815970PHC1c.2541A>C (p.Glu847Asp)
c.2406A>C (p.Glu802Asp)
c.562A>C
c.*1391A>C (n.*1391A>C)
c.284-2632A>C (n.284-2632A>C)
c.2517A>C (p.Glu839Asp)
c.2592A>C (p.Glu864Asp)
c.2568A>C (p.Glu856Asp)
c.2442A>C (p.Glu814Asp)
c.2436A>C (p.Glu812Asp)
c.2385A>C (p.Glu795Asp)
c.2418A>C (p.Glu806Asp)
c.2391A>C (p.Glu797Asp)
c.2367A>C (p.Glu789Asp)
12g.8937239A>GCA478307549PHC1c.2541A>G (p.Glu847=)
c.2406A>G (p.Glu802=)
c.562A>G
c.*1391A>G (n.*1391A>G)
c.284-2632A>G (n.284-2632A>G)
c.2517A>G (p.Glu839=)
c.2592A>G (p.Glu864=)
c.2568A>G (p.Glu856=)
c.2442A>G (p.Glu814=)
c.2436A>G (p.Glu812=)
c.2385A>G (p.Glu795=)
c.2418A>G (p.Glu806=)
c.2391A>G (p.Glu797=)
c.2367A>G (p.Glu789=)
12g.8937239A>TCA383815968PHC1c.2541A>T (p.Glu847Asp)
c.2406A>T (p.Glu802Asp)
c.562A>T
c.*1391A>T (n.*1391A>T)
c.284-2632A>T (n.284-2632A>T)
c.2517A>T (p.Glu839Asp)
c.2592A>T (p.Glu864Asp)
c.2568A>T (p.Glu856Asp)
c.2442A>T (p.Glu814Asp)
c.2436A>T (p.Glu812Asp)
c.2385A>T (p.Glu795Asp)
c.2418A>T (p.Glu806Asp)
c.2391A>T (p.Glu797Asp)
c.2367A>T (p.Glu789Asp)
12g.8937240G>ACA383815972PHC1c.2542G>A (p.Ala848Thr)
c.2407G>A (p.Ala803Thr)
c.563G>A
c.*1392G>A (n.*1392G>A)
c.284-2631G>A (n.284-2631G>A)
c.2518G>A (p.Ala840Thr)
c.2593G>A (p.Ala865Thr)
c.2569G>A (p.Ala857Thr)
c.2443G>A (p.Ala815Thr)
c.2437G>A (p.Ala813Thr)
c.2386G>A (p.Ala796Thr)
c.2419G>A (p.Ala807Thr)
c.2392G>A (p.Ala798Thr)
c.2368G>A (p.Ala790Thr)
12g.8937240G>CCA383815973PHC1c.2542G>C (p.Ala848Pro)
c.2407G>C (p.Ala803Pro)
c.563G>C
c.*1392G>C (n.*1392G>C)
c.284-2631G>C (n.284-2631G>C)
c.2518G>C (p.Ala840Pro)
c.2593G>C (p.Ala865Pro)
c.2569G>C (p.Ala857Pro)
c.2443G>C (p.Ala815Pro)
c.2437G>C (p.Ala813Pro)
c.2386G>C (p.Ala796Pro)
c.2419G>C (p.Ala807Pro)
c.2392G>C (p.Ala798Pro)
c.2368G>C (p.Ala790Pro)
12g.8937240G>TCA383815976PHC1c.2542G>T (p.Ala848Ser)
c.2407G>T (p.Ala803Ser)
c.563G>T
c.*1392G>T (n.*1392G>T)
c.284-2631G>T (n.284-2631G>T)
c.2518G>T (p.Ala840Ser)
c.2593G>T (p.Ala865Ser)
c.2569G>T (p.Ala857Ser)
c.2443G>T (p.Ala815Ser)
c.2437G>T (p.Ala813Ser)
c.2386G>T (p.Ala796Ser)
c.2419G>T (p.Ala807Ser)
c.2392G>T (p.Ala798Ser)
c.2368G>T (p.Ala790Ser)
12g.8937241C>ACA383815978PHC1c.2543C>A (p.Ala848Asp)
c.2408C>A (p.Ala803Asp)
c.564C>A
c.*1393C>A (n.*1393C>A)
c.284-2630C>A (n.284-2630C>A)
c.2519C>A (p.Ala840Asp)
c.2594C>A (p.Ala865Asp)
c.2570C>A (p.Ala857Asp)
c.2444C>A (p.Ala815Asp)
c.2438C>A (p.Ala813Asp)
c.2387C>A (p.Ala796Asp)
c.2420C>A (p.Ala807Asp)
c.2393C>A (p.Ala798Asp)
c.2369C>A (p.Ala790Asp)
12g.8937241C=CA2015272701PHC1c.2543C= (p.Ala848=)
c.2408C= (p.Ala803=)
c.564C=
c.*1393C= (n.*1393C=)
c.284-2630C= (n.284-2630C=)
c.2519C= (p.Ala840=)
c.2594C= (p.Ala865=)
c.2570C= (p.Ala857=)
c.2444C= (p.Ala815=)
c.2438C= (p.Ala813=)
c.2387C= (p.Ala796=)
c.2420C= (p.Ala807=)
c.2393C= (p.Ala798=)
c.2369C= (p.Ala790=)
12g.8937241C>GCA6437257PHC1c.2543C>G (p.Ala848Gly)
c.2408C>G (p.Ala803Gly)
c.564C>G
c.*1393C>G (n.*1393C>G)
c.284-2630C>G (n.284-2630C>G)
c.2519C>G (p.Ala840Gly)
c.2594C>G (p.Ala865Gly)
c.2570C>G (p.Ala857Gly)
c.2444C>G (p.Ala815Gly)
c.2438C>G (p.Ala813Gly)
c.2387C>G (p.Ala796Gly)
c.2420C>G (p.Ala807Gly)
c.2393C>G (p.Ala798Gly)
c.2369C>G (p.Ala790Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.8937241C>TCA383815981PHC1c.2543C>T (p.Ala848Val)
c.2408C>T (p.Ala803Val)
c.564C>T
c.*1393C>T (n.*1393C>T)
c.284-2630C>T (n.284-2630C>T)
c.2519C>T (p.Ala840Val)
c.2594C>T (p.Ala865Val)
c.2570C>T (p.Ala857Val)
c.2444C>T (p.Ala815Val)
c.2438C>T (p.Ala813Val)
c.2387C>T (p.Ala796Val)
c.2420C>T (p.Ala807Val)
c.2393C>T (p.Ala798Val)
c.2369C>T (p.Ala790Val)
 gnomAD v4
12g.8937242C>ACA478307565PHC1c.2544C>A (p.Ala848=)
c.2409C>A (p.Ala803=)
c.565C>A
c.*1394C>A (n.*1394C>A)
c.284-2629C>A (n.284-2629C>A)
c.2520C>A (p.Ala840=)
c.2595C>A (p.Ala865=)
c.2571C>A (p.Ala857=)
c.2445C>A (p.Ala815=)
c.2439C>A (p.Ala813=)
c.2388C>A (p.Ala796=)
c.2421C>A (p.Ala807=)
c.2394C>A (p.Ala798=)
c.2370C>A (p.Ala790=)
12g.8937242C>GCA478307569PHC1c.2544C>G (p.Ala848=)
c.2409C>G (p.Ala803=)
c.565C>G
c.*1394C>G (n.*1394C>G)
c.284-2629C>G (n.284-2629C>G)
c.2520C>G (p.Ala840=)
c.2595C>G (p.Ala865=)
c.2571C>G (p.Ala857=)
c.2445C>G (p.Ala815=)
c.2439C>G (p.Ala813=)
c.2388C>G (p.Ala796=)
c.2421C>G (p.Ala807=)
c.2394C>G (p.Ala798=)
c.2370C>G (p.Ala790=)
12g.8937242C>TCA478307571PHC1c.2544C>T (p.Ala848=)
c.2409C>T (p.Ala803=)
c.565C>T
c.*1394C>T (n.*1394C>T)
c.284-2629C>T (n.284-2629C>T)
c.2520C>T (p.Ala840=)
c.2595C>T (p.Ala865=)
c.2571C>T (p.Ala857=)
c.2445C>T (p.Ala815=)
c.2439C>T (p.Ala813=)
c.2388C>T (p.Ala796=)
c.2421C>T (p.Ala807=)
c.2394C>T (p.Ala798=)
c.2370C>T (p.Ala790=)
12g.8937243A>CCA383815990PHC1c.2545A>C (p.Asn849His)
c.2410A>C (p.Asn804His)
c.566A>C
c.*1395A>C (n.*1395A>C)
c.284-2628A>C (n.284-2628A>C)
c.2521A>C (p.Asn841His)
c.2596A>C (p.Asn866His)
c.2572A>C (p.Asn858His)
c.2446A>C (p.Asn816His)
c.2440A>C (p.Asn814His)
c.2389A>C (p.Asn797His)
c.2422A>C (p.Asn808His)
c.2395A>C (p.Asn799His)
c.2371A>C (p.Asn791His)
12g.8937243A>GCA383815985PHC1c.2545A>G (p.Asn849Asp)
c.2410A>G (p.Asn804Asp)
c.566A>G
c.*1395A>G (n.*1395A>G)
c.284-2628A>G (n.284-2628A>G)
c.2521A>G (p.Asn841Asp)
c.2596A>G (p.Asn866Asp)
c.2572A>G (p.Asn858Asp)
c.2446A>G (p.Asn816Asp)
c.2440A>G (p.Asn814Asp)
c.2389A>G (p.Asn797Asp)
c.2422A>G (p.Asn808Asp)
c.2395A>G (p.Asn799Asp)
c.2371A>G (p.Asn791Asp)
12g.8937243A>TCA383815987PHC1c.2545A>T (p.Asn849Tyr)
c.2410A>T (p.Asn804Tyr)
c.566A>T
c.*1395A>T (n.*1395A>T)
c.284-2628A>T (n.284-2628A>T)
c.2521A>T (p.Asn841Tyr)
c.2596A>T (p.Asn866Tyr)
c.2572A>T (p.Asn858Tyr)
c.2446A>T (p.Asn816Tyr)
c.2440A>T (p.Asn814Tyr)
c.2389A>T (p.Asn797Tyr)
c.2422A>T (p.Asn808Tyr)
c.2395A>T (p.Asn799Tyr)
c.2371A>T (p.Asn791Tyr)
12g.8937244A=CA2015272702PHC1c.2546A= (p.Asn849=)
c.2411A= (p.Asn804=)
c.567A=
c.*1396A= (n.*1396A=)
c.284-2627A= (n.284-2627A=)
c.2522A= (p.Asn841=)
c.2597A= (p.Asn866=)
c.2573A= (p.Asn858=)
c.2447A= (p.Asn816=)
c.2441A= (p.Asn814=)
c.2390A= (p.Asn797=)
c.2423A= (p.Asn808=)
c.2396A= (p.Asn799=)
c.2372A= (p.Asn791=)
12g.8937244A>CCA383815992PHC1c.2546A>C (p.Asn849Thr)
c.2411A>C (p.Asn804Thr)
c.567A>C
c.*1396A>C (n.*1396A>C)
c.284-2627A>C (n.284-2627A>C)
c.2522A>C (p.Asn841Thr)
c.2597A>C (p.Asn866Thr)
c.2573A>C (p.Asn858Thr)
c.2447A>C (p.Asn816Thr)
c.2441A>C (p.Asn814Thr)
c.2390A>C (p.Asn797Thr)
c.2423A>C (p.Asn808Thr)
c.2396A>C (p.Asn799Thr)
c.2372A>C (p.Asn791Thr)
12g.8937244A>GCA6437258PHC1c.2546A>G (p.Asn849Ser)
c.2411A>G (p.Asn804Ser)
c.567A>G
c.*1396A>G (n.*1396A>G)
c.284-2627A>G (n.284-2627A>G)
c.2522A>G (p.Asn841Ser)
c.2597A>G (p.Asn866Ser)
c.2573A>G (p.Asn858Ser)
c.2447A>G (p.Asn816Ser)
c.2441A>G (p.Asn814Ser)
c.2390A>G (p.Asn797Ser)
c.2423A>G (p.Asn808Ser)
c.2396A>G (p.Asn799Ser)
c.2372A>G (p.Asn791Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.8937244A>TCA383815994PHC1c.2546A>T (p.Asn849Ile)
c.2411A>T (p.Asn804Ile)
c.567A>T
c.*1396A>T (n.*1396A>T)
c.284-2627A>T (n.284-2627A>T)
c.2522A>T (p.Asn841Ile)
c.2597A>T (p.Asn866Ile)
c.2573A>T (p.Asn858Ile)
c.2447A>T (p.Asn816Ile)
c.2441A>T (p.Asn814Ile)
c.2390A>T (p.Asn797Ile)
c.2423A>T (p.Asn808Ile)
c.2396A>T (p.Asn799Ile)
c.2372A>T (p.Asn791Ile)
12g.8937245C>ACA383815995PHC1c.2547C>A (p.Asn849Lys)
c.2412C>A (p.Asn804Lys)
c.568C>A
c.*1397C>A (n.*1397C>A)
c.284-2626C>A (n.284-2626C>A)
c.2523C>A (p.Asn841Lys)
c.2598C>A (p.Asn866Lys)
c.2574C>A (p.Asn858Lys)
c.2448C>A (p.Asn816Lys)
c.2442C>A (p.Asn814Lys)
c.2391C>A (p.Asn797Lys)
c.2424C>A (p.Asn808Lys)
c.2397C>A (p.Asn799Lys)
c.2373C>A (p.Asn791Lys)
 dbSNP gnomAD v4
12g.8937245C=CA2015272703PHC1c.2547C= (p.Asn849=)
c.2412C= (p.Asn804=)
c.568C=
c.*1397C= (n.*1397C=)
c.284-2626C= (n.284-2626C=)
c.2523C= (p.Asn841=)
c.2598C= (p.Asn866=)
c.2574C= (p.Asn858=)
c.2448C= (p.Asn816=)
c.2442C= (p.Asn814=)
c.2391C= (p.Asn797=)
c.2424C= (p.Asn808=)
c.2397C= (p.Asn799=)
c.2373C= (p.Asn791=)
12g.8937245C>GCA383815996PHC1c.2547C>G (p.Asn849Lys)
c.2412C>G (p.Asn804Lys)
c.568C>G
c.*1397C>G (n.*1397C>G)
c.284-2626C>G (n.284-2626C>G)
c.2523C>G (p.Asn841Lys)
c.2598C>G (p.Asn866Lys)
c.2574C>G (p.Asn858Lys)
c.2448C>G (p.Asn816Lys)
c.2442C>G (p.Asn814Lys)
c.2391C>G (p.Asn797Lys)
c.2424C>G (p.Asn808Lys)
c.2397C>G (p.Asn799Lys)
c.2373C>G (p.Asn791Lys)
12g.8937245C>TCA478307605PHC1c.2547C>T (p.Asn849=)
c.2412C>T (p.Asn804=)
c.568C>T
c.*1397C>T (n.*1397C>T)
c.284-2626C>T (n.284-2626C>T)
c.2523C>T (p.Asn841=)
c.2598C>T (p.Asn866=)
c.2574C>T (p.Asn858=)
c.2448C>T (p.Asn816=)
c.2442C>T (p.Asn814=)
c.2391C>T (p.Asn797=)
c.2424C>T (p.Asn808=)
c.2397C>T (p.Asn799=)
c.2373C>T (p.Asn791=)
 gnomAD v4
12g.8937246T>ACA383815999PHC1c.2548T>A (p.Tyr850Asn)
c.2413T>A (p.Tyr805Asn)
c.569T>A
c.*1398T>A (n.*1398T>A)
c.284-2625T>A (n.284-2625T>A)
c.2524T>A (p.Tyr842Asn)
c.2599T>A (p.Tyr867Asn)
c.2575T>A (p.Tyr859Asn)
c.2449T>A (p.Tyr817Asn)
c.2443T>A (p.Tyr815Asn)
c.2392T>A (p.Tyr798Asn)
c.2425T>A (p.Tyr809Asn)
c.2398T>A (p.Tyr800Asn)
c.2374T>A (p.Tyr792Asn)
12g.8937246T>CCA383815997PHC1c.2548T>C (p.Tyr850His)
c.2413T>C (p.Tyr805His)
c.569T>C
c.*1398T>C (n.*1398T>C)
c.284-2625T>C (n.284-2625T>C)
c.2524T>C (p.Tyr842His)
c.2599T>C (p.Tyr867His)
c.2575T>C (p.Tyr859His)
c.2449T>C (p.Tyr817His)
c.2443T>C (p.Tyr815His)
c.2392T>C (p.Tyr798His)
c.2425T>C (p.Tyr809His)
c.2398T>C (p.Tyr800His)
c.2374T>C (p.Tyr792His)
 dbSNP gnomAD v2 gnomAD v4
12g.8937246T>GCA383815998PHC1c.2548T>G (p.Tyr850Asp)
c.2413T>G (p.Tyr805Asp)
c.569T>G
c.*1398T>G (n.*1398T>G)
c.284-2625T>G (n.284-2625T>G)
c.2524T>G (p.Tyr842Asp)
c.2599T>G (p.Tyr867Asp)
c.2575T>G (p.Tyr859Asp)
c.2449T>G (p.Tyr817Asp)
c.2443T>G (p.Tyr815Asp)
c.2392T>G (p.Tyr798Asp)
c.2425T>G (p.Tyr809Asp)
c.2398T>G (p.Tyr800Asp)
c.2374T>G (p.Tyr792Asp)
12g.8937246T=CA2015272704PHC1c.2548T= (p.Tyr850=)
c.2413T= (p.Tyr805=)
c.569T=
c.*1398T= (n.*1398T=)
c.284-2625T= (n.284-2625T=)
c.2524T= (p.Tyr842=)
c.2599T= (p.Tyr867=)
c.2575T= (p.Tyr859=)
c.2449T= (p.Tyr817=)
c.2443T= (p.Tyr815=)
c.2392T= (p.Tyr798=)
c.2425T= (p.Tyr809=)
c.2398T= (p.Tyr800=)
c.2374T= (p.Tyr792=)
12g.8937247A=CA2015272705PHC1c.2549A= (p.Tyr850=)
c.2414A= (p.Tyr805=)
c.570A=
c.*1399A= (n.*1399A=)
c.284-2624A= (n.284-2624A=)
c.2525A= (p.Tyr842=)
c.2600A= (p.Tyr867=)
c.2576A= (p.Tyr859=)
c.2450A= (p.Tyr817=)
c.2444A= (p.Tyr815=)
c.2393A= (p.Tyr798=)
c.2426A= (p.Tyr809=)
c.2399A= (p.Tyr800=)
c.2375A= (p.Tyr792=)
12g.8937247A>CCA383816001PHC1c.2549A>C (p.Tyr850Ser)
c.2414A>C (p.Tyr805Ser)
c.570A>C
c.*1399A>C (n.*1399A>C)
c.284-2624A>C (n.284-2624A>C)
c.2525A>C (p.Tyr842Ser)
c.2600A>C (p.Tyr867Ser)
c.2576A>C (p.Tyr859Ser)
c.2450A>C (p.Tyr817Ser)
c.2444A>C (p.Tyr815Ser)
c.2393A>C (p.Tyr798Ser)
c.2426A>C (p.Tyr809Ser)
c.2399A>C (p.Tyr800Ser)
c.2375A>C (p.Tyr792Ser)
12g.8937247A>GCA383816003PHC1c.2549A>G (p.Tyr850Cys)
c.2414A>G (p.Tyr805Cys)
c.570A>G
c.*1399A>G (n.*1399A>G)
c.284-2624A>G (n.284-2624A>G)
c.2525A>G (p.Tyr842Cys)
c.2600A>G (p.Tyr867Cys)
c.2576A>G (p.Tyr859Cys)
c.2450A>G (p.Tyr817Cys)
c.2444A>G (p.Tyr815Cys)
c.2393A>G (p.Tyr798Cys)
c.2426A>G (p.Tyr809Cys)
c.2399A>G (p.Tyr800Cys)
c.2375A>G (p.Tyr792Cys)
 dbSNP gnomAD v4
12g.8937247A>TCA383816009PHC1c.2549A>T (p.Tyr850Phe)
c.2414A>T (p.Tyr805Phe)
c.570A>T
c.*1399A>T (n.*1399A>T)
c.284-2624A>T (n.284-2624A>T)
c.2525A>T (p.Tyr842Phe)
c.2600A>T (p.Tyr867Phe)
c.2576A>T (p.Tyr859Phe)
c.2450A>T (p.Tyr817Phe)
c.2444A>T (p.Tyr815Phe)
c.2393A>T (p.Tyr798Phe)
c.2426A>T (p.Tyr809Phe)
c.2399A>T (p.Tyr800Phe)
c.2375A>T (p.Tyr792Phe)
12g.8937248T>ACA383816012PHC1c.2550T>A (p.Tyr850Ter)
c.2415T>A (p.Tyr805Ter)
c.571T>A
c.*1400T>A (n.*1400T>A)
c.284-2623T>A (n.284-2623T>A)
c.2526T>A (p.Tyr842Ter)
c.2601T>A (p.Tyr867Ter)
c.2577T>A (p.Tyr859Ter)
c.2451T>A (p.Tyr817Ter)
c.2445T>A (p.Tyr815Ter)
c.2394T>A (p.Tyr798Ter)
c.2427T>A (p.Tyr809Ter)
c.2400T>A (p.Tyr800Ter)
c.2376T>A (p.Tyr792Ter)
12g.8937248T>CCA6437259PHC1c.2550T>C (p.Tyr850=)
c.2415T>C (p.Tyr805=)
c.571T>C
c.*1400T>C (n.*1400T>C)
c.284-2623T>C (n.284-2623T>C)
c.2526T>C (p.Tyr842=)
c.2601T>C (p.Tyr867=)
c.2577T>C (p.Tyr859=)
c.2451T>C (p.Tyr817=)
c.2445T>C (p.Tyr815=)
c.2394T>C (p.Tyr798=)
c.2427T>C (p.Tyr809=)
c.2400T>C (p.Tyr800=)
c.2376T>C (p.Tyr792=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.8937248T>GCA383816017PHC1c.2550T>G (p.Tyr850Ter)
c.2415T>G (p.Tyr805Ter)
c.571T>G
c.*1400T>G (n.*1400T>G)
c.284-2623T>G (n.284-2623T>G)
c.2526T>G (p.Tyr842Ter)
c.2601T>G (p.Tyr867Ter)
c.2577T>G (p.Tyr859Ter)
c.2451T>G (p.Tyr817Ter)
c.2445T>G (p.Tyr815Ter)
c.2394T>G (p.Tyr798Ter)
c.2427T>G (p.Tyr809Ter)
c.2400T>G (p.Tyr800Ter)
c.2376T>G (p.Tyr792Ter)
12g.8937248T=CA2015272706PHC1c.2550T= (p.Tyr850=)
c.2415T= (p.Tyr805=)
c.571T=
c.*1400T= (n.*1400T=)
c.284-2623T= (n.284-2623T=)
c.2526T= (p.Tyr842=)
c.2601T= (p.Tyr867=)
c.2577T= (p.Tyr859=)
c.2451T= (p.Tyr817=)
c.2445T= (p.Tyr815=)
c.2394T= (p.Tyr798=)
c.2427T= (p.Tyr809=)
c.2400T= (p.Tyr800=)
c.2376T= (p.Tyr792=)
12g.8937249G>ACA383816021PHC1c.2551G>A (p.Ala851Thr)
c.2416G>A (p.Ala806Thr)
c.572G>A
c.*1401G>A (n.*1401G>A)
c.284-2622G>A (n.284-2622G>A)
c.2527G>A (p.Ala843Thr)
c.2602G>A (p.Ala868Thr)
c.2578G>A (p.Ala860Thr)
c.2452G>A (p.Ala818Thr)
c.2446G>A (p.Ala816Thr)
c.2395G>A (p.Ala799Thr)
c.2428G>A (p.Ala810Thr)
c.2401G>A (p.Ala801Thr)
c.2377G>A (p.Ala793Thr)
12g.8937249G>CCA383816025PHC1c.2551G>C (p.Ala851Pro)
c.2416G>C (p.Ala806Pro)
c.572G>C
c.*1401G>C (n.*1401G>C)
c.284-2622G>C (n.284-2622G>C)
c.2527G>C (p.Ala843Pro)
c.2602G>C (p.Ala868Pro)
c.2578G>C (p.Ala860Pro)
c.2452G>C (p.Ala818Pro)
c.2446G>C (p.Ala816Pro)
c.2395G>C (p.Ala799Pro)
c.2428G>C (p.Ala810Pro)
c.2401G>C (p.Ala801Pro)
c.2377G>C (p.Ala793Pro)
12g.8937249G>TCA383816027PHC1c.2551G>T (p.Ala851Ser)
c.2416G>T (p.Ala806Ser)
c.572G>T
c.*1401G>T (n.*1401G>T)
c.284-2622G>T (n.284-2622G>T)
c.2527G>T (p.Ala843Ser)
c.2602G>T (p.Ala868Ser)
c.2578G>T (p.Ala860Ser)
c.2452G>T (p.Ala818Ser)
c.2446G>T (p.Ala816Ser)
c.2395G>T (p.Ala799Ser)
c.2428G>T (p.Ala810Ser)
c.2401G>T (p.Ala801Ser)
c.2377G>T (p.Ala793Ser)
12g.8937250C>ACA383816029PHC1c.2552C>A (p.Ala851Asp)
c.2417C>A (p.Ala806Asp)
c.*1402C>A (n.*1402C>A)
c.284-2621C>A (n.284-2621C>A)
c.2528C>A (p.Ala843Asp)
c.2603C>A (p.Ala868Asp)
c.2579C>A (p.Ala860Asp)
c.2453C>A (p.Ala818Asp)
c.2447C>A (p.Ala816Asp)
c.2396C>A (p.Ala799Asp)
c.2429C>A (p.Ala810Asp)
c.2402C>A (p.Ala801Asp)
c.2378C>A (p.Ala793Asp)
12g.8937250C>GCA383816030PHC1c.2552C>G (p.Ala851Gly)
c.2417C>G (p.Ala806Gly)
c.*1402C>G (n.*1402C>G)
c.284-2621C>G (n.284-2621C>G)
c.2528C>G (p.Ala843Gly)
c.2603C>G (p.Ala868Gly)
c.2579C>G (p.Ala860Gly)
c.2453C>G (p.Ala818Gly)
c.2447C>G (p.Ala816Gly)
c.2396C>G (p.Ala799Gly)
c.2429C>G (p.Ala810Gly)
c.2402C>G (p.Ala801Gly)
c.2378C>G (p.Ala793Gly)
12g.8937250C>TCA383816031PHC1c.2552C>T (p.Ala851Val)
c.2417C>T (p.Ala806Val)
c.*1402C>T (n.*1402C>T)
c.284-2621C>T (n.284-2621C>T)
c.2528C>T (p.Ala843Val)
c.2603C>T (p.Ala868Val)
c.2579C>T (p.Ala860Val)
c.2453C>T (p.Ala818Val)
c.2447C>T (p.Ala816Val)
c.2396C>T (p.Ala799Val)
c.2429C>T (p.Ala810Val)
c.2402C>T (p.Ala801Val)
c.2378C>T (p.Ala793Val)
 gnomAD v4
12g.8937251T>ACA478307665PHC1c.2553T>A (p.Ala851=)
c.2418T>A (p.Ala806=)
c.*1403T>A (n.*1403T>A)
c.284-2620T>A (n.284-2620T>A)
c.2529T>A (p.Ala843=)
c.2604T>A (p.Ala868=)
c.2580T>A (p.Ala860=)
c.2454T>A (p.Ala818=)
c.2448T>A (p.Ala816=)
c.2397T>A (p.Ala799=)
c.2430T>A (p.Ala810=)
c.2403T>A (p.Ala801=)
c.2379T>A (p.Ala793=)
12g.8937251T>CCA478307673PHC1c.2553T>C (p.Ala851=)
c.2418T>C (p.Ala806=)
c.*1403T>C (n.*1403T>C)
c.284-2620T>C (n.284-2620T>C)
c.2529T>C (p.Ala843=)
c.2604T>C (p.Ala868=)
c.2580T>C (p.Ala860=)
c.2454T>C (p.Ala818=)
c.2448T>C (p.Ala816=)
c.2397T>C (p.Ala799=)
c.2430T>C (p.Ala810=)
c.2403T>C (p.Ala801=)
c.2379T>C (p.Ala793=)
12g.8937251T>GCA478307667PHC1c.2553T>G (p.Ala851=)
c.2418T>G (p.Ala806=)
c.*1403T>G (n.*1403T>G)
c.284-2620T>G (n.284-2620T>G)
c.2529T>G (p.Ala843=)
c.2604T>G (p.Ala868=)
c.2580T>G (p.Ala860=)
c.2454T>G (p.Ala818=)
c.2448T>G (p.Ala816=)
c.2397T>G (p.Ala799=)
c.2430T>G (p.Ala810=)
c.2403T>G (p.Ala801=)
c.2379T>G (p.Ala793=)
 gnomAD v4
12g.8937252C>ACA383816032PHC1c.2554C>A (p.Arg852Ser)
c.2419C>A (p.Arg807Ser)
c.*1404C>A (n.*1404C>A)
c.284-2619C>A (n.284-2619C>A)
c.2530C>A (p.Arg844Ser)
c.2605C>A (p.Arg869Ser)
c.2581C>A (p.Arg861Ser)
c.2455C>A (p.Arg819Ser)
c.2449C>A (p.Arg817Ser)
c.2398C>A (p.Arg800Ser)
c.2431C>A (p.Arg811Ser)
c.2404C>A (p.Arg802Ser)
c.2380C>A (p.Arg794Ser)
12g.8937252C=CA2015272707PHC1c.2554C= (p.Arg852=)
c.2419C= (p.Arg807=)
c.*1404C= (n.*1404C=)
c.284-2619C= (n.284-2619C=)
c.2530C= (p.Arg844=)
c.2605C= (p.Arg869=)
c.2581C= (p.Arg861=)
c.2455C= (p.Arg819=)
c.2449C= (p.Arg817=)
c.2398C= (p.Arg800=)
c.2431C= (p.Arg811=)
c.2404C= (p.Arg802=)
c.2380C= (p.Arg794=)
12g.8937252C>GCA383816035PHC1c.2554C>G (p.Arg852Gly)
c.2419C>G (p.Arg807Gly)
c.*1404C>G (n.*1404C>G)
c.284-2619C>G (n.284-2619C>G)
c.2530C>G (p.Arg844Gly)
c.2605C>G (p.Arg869Gly)
c.2581C>G (p.Arg861Gly)
c.2455C>G (p.Arg819Gly)
c.2449C>G (p.Arg817Gly)
c.2398C>G (p.Arg800Gly)
c.2431C>G (p.Arg811Gly)
c.2404C>G (p.Arg802Gly)
c.2380C>G (p.Arg794Gly)
 gnomAD v4
12g.8937252C>TCA6437260PHC1c.2554C>T (p.Arg852Cys)
c.2419C>T (p.Arg807Cys)
c.*1404C>T (n.*1404C>T)
c.284-2619C>T (n.284-2619C>T)
c.2530C>T (p.Arg844Cys)
c.2605C>T (p.Arg869Cys)
c.2581C>T (p.Arg861Cys)
c.2455C>T (p.Arg819Cys)
c.2449C>T (p.Arg817Cys)
c.2398C>T (p.Arg800Cys)
c.2431C>T (p.Arg811Cys)
c.2404C>T (p.Arg802Cys)
c.2380C>T (p.Arg794Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.8937253G>ACA6437261PHC1c.2555G>A (p.Arg852His)
c.2420G>A (p.Arg807His)
c.*1405G>A (n.*1405G>A)
c.284-2618G>A (n.284-2618G>A)
c.2531G>A (p.Arg844His)
c.2606G>A (p.Arg869His)
c.2582G>A (p.Arg861His)
c.2456G>A (p.Arg819His)
c.2450G>A (p.Arg817His)
c.2399G>A (p.Arg800His)
c.2432G>A (p.Arg811His)
c.2405G>A (p.Arg802His)
c.2381G>A (p.Arg794His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.8937253G>CCA383816040PHC1c.2555G>C (p.Arg852Pro)
c.2420G>C (p.Arg807Pro)
c.*1405G>C (n.*1405G>C)
c.284-2618G>C (n.284-2618G>C)
c.2531G>C (p.Arg844Pro)
c.2606G>C (p.Arg869Pro)
c.2582G>C (p.Arg861Pro)
c.2456G>C (p.Arg819Pro)
c.2450G>C (p.Arg817Pro)
c.2399G>C (p.Arg800Pro)
c.2432G>C (p.Arg811Pro)
c.2405G>C (p.Arg802Pro)
c.2381G>C (p.Arg794Pro)
12g.8937253G=CA2015272708PHC1c.2555G= (p.Arg852=)
c.2420G= (p.Arg807=)
c.*1405G= (n.*1405G=)
c.284-2618G= (n.284-2618G=)
c.2531G= (p.Arg844=)
c.2606G= (p.Arg869=)
c.2582G= (p.Arg861=)
c.2456G= (p.Arg819=)
c.2450G= (p.Arg817=)
c.2399G= (p.Arg800=)
c.2432G= (p.Arg811=)
c.2405G= (p.Arg802=)
c.2381G= (p.Arg794=)
12g.8937253G>TCA383816037PHC1c.2555G>T (p.Arg852Leu)
c.2420G>T (p.Arg807Leu)
c.*1405G>T (n.*1405G>T)
c.284-2618G>T (n.284-2618G>T)
c.2531G>T (p.Arg844Leu)
c.2606G>T (p.Arg869Leu)
c.2582G>T (p.Arg861Leu)
c.2456G>T (p.Arg819Leu)
c.2450G>T (p.Arg817Leu)
c.2399G>T (p.Arg800Leu)
c.2432G>T (p.Arg811Leu)
c.2405G>T (p.Arg802Leu)
c.2381G>T (p.Arg794Leu)
12g.8937254C>ACA478307690PHC1c.2556C>A (p.Arg852=)
c.2421C>A (p.Arg807=)
c.*1406C>A (n.*1406C>A)
c.284-2617C>A (n.284-2617C>A)
c.2532C>A (p.Arg844=)
c.2607C>A (p.Arg869=)
c.2583C>A (p.Arg861=)
c.2457C>A (p.Arg819=)
c.2451C>A (p.Arg817=)
c.2400C>A (p.Arg800=)
c.2433C>A (p.Arg811=)
c.2406C>A (p.Arg802=)
c.2382C>A (p.Arg794=)
12g.8937254C=CA2015272709PHC1c.2556C= (p.Arg852=)
c.2421C= (p.Arg807=)
c.*1406C= (n.*1406C=)
c.284-2617C= (n.284-2617C=)
c.2532C= (p.Arg844=)
c.2607C= (p.Arg869=)
c.2583C= (p.Arg861=)
c.2457C= (p.Arg819=)
c.2451C= (p.Arg817=)
c.2400C= (p.Arg800=)
c.2433C= (p.Arg811=)
c.2406C= (p.Arg802=)
c.2382C= (p.Arg794=)
12g.8937254C>GCA478307694PHC1c.2556C>G (p.Arg852=)
c.2421C>G (p.Arg807=)
c.*1406C>G (n.*1406C>G)
c.284-2617C>G (n.284-2617C>G)
c.2532C>G (p.Arg844=)
c.2607C>G (p.Arg869=)
c.2583C>G (p.Arg861=)
c.2457C>G (p.Arg819=)
c.2451C>G (p.Arg817=)
c.2400C>G (p.Arg800=)
c.2433C>G (p.Arg811=)
c.2406C>G (p.Arg802=)
c.2382C>G (p.Arg794=)
12g.8937254C>TCA6437262PHC1c.2556C>T (p.Arg852=)
c.2421C>T (p.Arg807=)
c.*1406C>T (n.*1406C>T)
c.284-2617C>T (n.284-2617C>T)
c.2532C>T (p.Arg844=)
c.2607C>T (p.Arg869=)
c.2583C>T (p.Arg861=)
c.2457C>T (p.Arg819=)
c.2451C>T (p.Arg817=)
c.2400C>T (p.Arg800=)
c.2433C>T (p.Arg811=)
c.2406C>T (p.Arg802=)
c.2382C>T (p.Arg794=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.8937255G>ACA6437263PHC1c.2557G>A (p.Val853Ile)
c.2422G>A (p.Val808Ile)
c.*1407G>A (n.*1407G>A)
c.284-2616G>A (n.284-2616G>A)
c.2533G>A (p.Val845Ile)
c.2608G>A (p.Val870Ile)
c.2584G>A (p.Val862Ile)
c.2458G>A (p.Val820Ile)
c.2452G>A (p.Val818Ile)
c.2401G>A (p.Val801Ile)
c.2434G>A (p.Val812Ile)
c.2407G>A (p.Val803Ile)
c.2383G>A (p.Val795Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.8937255G>CCA383816044PHC1c.2557G>C (p.Val853Leu)
c.2422G>C (p.Val808Leu)
c.*1407G>C (n.*1407G>C)
c.284-2616G>C (n.284-2616G>C)
c.2533G>C (p.Val845Leu)
c.2608G>C (p.Val870Leu)
c.2584G>C (p.Val862Leu)
c.2458G>C (p.Val820Leu)
c.2452G>C (p.Val818Leu)
c.2401G>C (p.Val801Leu)
c.2434G>C (p.Val812Leu)
c.2407G>C (p.Val803Leu)
c.2383G>C (p.Val795Leu)
 gnomAD v4
12g.8937255G=CA2015272710PHC1c.2557G= (p.Val853=)
c.2422G= (p.Val808=)
c.*1407G= (n.*1407G=)
c.284-2616G= (n.284-2616G=)
c.2533G= (p.Val845=)
c.2608G= (p.Val870=)
c.2584G= (p.Val862=)
c.2458G= (p.Val820=)
c.2452G= (p.Val818=)
c.2401G= (p.Val801=)
c.2434G= (p.Val812=)
c.2407G= (p.Val803=)
c.2383G= (p.Val795=)
12g.8937255G>TCA383816045PHC1c.2557G>T (p.Val853Phe)
c.2422G>T (p.Val808Phe)
c.*1407G>T (n.*1407G>T)
c.284-2616G>T (n.284-2616G>T)
c.2533G>T (p.Val845Phe)
c.2608G>T (p.Val870Phe)
c.2584G>T (p.Val862Phe)
c.2458G>T (p.Val820Phe)
c.2452G>T (p.Val818Phe)
c.2401G>T (p.Val801Phe)
c.2434G>T (p.Val812Phe)
c.2407G>T (p.Val803Phe)
c.2383G>T (p.Val795Phe)
12g.8937256T>ACA383816046PHC1c.2558T>A (p.Val853Asp)
c.2423T>A (p.Val808Asp)
c.*1408T>A (n.*1408T>A)
c.284-2615T>A (n.284-2615T>A)
c.2534T>A (p.Val845Asp)
c.2609T>A (p.Val870Asp)
c.2585T>A (p.Val862Asp)
c.2459T>A (p.Val820Asp)
c.2453T>A (p.Val818Asp)
c.2402T>A (p.Val801Asp)
c.2435T>A (p.Val812Asp)
c.2408T>A (p.Val803Asp)
c.2384T>A (p.Val795Asp)
12g.8937256T>CCA383816047PHC1c.2558T>C (p.Val853Ala)
c.2423T>C (p.Val808Ala)
c.*1408T>C (n.*1408T>C)
c.284-2615T>C (n.284-2615T>C)
c.2534T>C (p.Val845Ala)
c.2609T>C (p.Val870Ala)
c.2585T>C (p.Val862Ala)
c.2459T>C (p.Val820Ala)
c.2453T>C (p.Val818Ala)
c.2402T>C (p.Val801Ala)
c.2435T>C (p.Val812Ala)
c.2408T>C (p.Val803Ala)
c.2384T>C (p.Val795Ala)
12g.8937256T>GCA383816048PHC1c.2558T>G (p.Val853Gly)
c.2423T>G (p.Val808Gly)
c.*1408T>G (n.*1408T>G)
c.284-2615T>G (n.284-2615T>G)
c.2534T>G (p.Val845Gly)
c.2609T>G (p.Val870Gly)
c.2585T>G (p.Val862Gly)
c.2459T>G (p.Val820Gly)
c.2453T>G (p.Val818Gly)
c.2402T>G (p.Val801Gly)
c.2435T>G (p.Val812Gly)
c.2408T>G (p.Val803Gly)
c.2384T>G (p.Val795Gly)
 gnomAD v4
12g.8937257T>ACA478307720PHC1c.2559T>A (p.Val853=)
c.2424T>A (p.Val808=)
c.*1409T>A (n.*1409T>A)
c.284-2614T>A (n.284-2614T>A)
c.2535T>A (p.Val845=)
c.2610T>A (p.Val870=)
c.2586T>A (p.Val862=)
c.2460T>A (p.Val820=)
c.2454T>A (p.Val818=)
c.2403T>A (p.Val801=)
c.2436T>A (p.Val812=)
c.2409T>A (p.Val803=)
c.2385T>A (p.Val795=)
12g.8937257T>CCA478307725PHC1c.2559T>C (p.Val853=)
c.2424T>C (p.Val808=)
c.*1409T>C (n.*1409T>C)
c.284-2614T>C (n.284-2614T>C)
c.2535T>C (p.Val845=)
c.2610T>C (p.Val870=)
c.2586T>C (p.Val862=)
c.2460T>C (p.Val820=)
c.2454T>C (p.Val818=)
c.2403T>C (p.Val801=)
c.2436T>C (p.Val812=)
c.2409T>C (p.Val803=)
c.2385T>C (p.Val795=)
12g.8937257T>GCA478307728PHC1c.2559T>G (p.Val853=)
c.2424T>G (p.Val808=)
c.*1409T>G (n.*1409T>G)
c.284-2614T>G (n.284-2614T>G)
c.2535T>G (p.Val845=)
c.2610T>G (p.Val870=)
c.2586T>G (p.Val862=)
c.2460T>G (p.Val820=)
c.2454T>G (p.Val818=)
c.2403T>G (p.Val801=)
c.2436T>G (p.Val812=)
c.2409T>G (p.Val803=)
c.2385T>G (p.Val795=)
12g.8937258C>ACA383816049PHC1c.2560C>A (p.Arg854Ser)
c.2425C>A (p.Arg809Ser)
c.*1410C>A (n.*1410C>A)
c.284-2613C>A (n.284-2613C>A)
c.2536C>A (p.Arg846Ser)
c.2611C>A (p.Arg871Ser)
c.2587C>A (p.Arg863Ser)
c.2461C>A (p.Arg821Ser)
c.2455C>A (p.Arg819Ser)
c.2404C>A (p.Arg802Ser)
c.2437C>A (p.Arg813Ser)
c.2410C>A (p.Arg804Ser)
c.2386C>A (p.Arg796Ser)
 dbSNP gnomAD v4
12g.8937258C=CA2015272711PHC1c.2560C= (p.Arg854=)
c.2425C= (p.Arg809=)
c.*1410C= (n.*1410C=)
c.284-2613C= (n.284-2613C=)
c.2536C= (p.Arg846=)
c.2611C= (p.Arg871=)
c.2587C= (p.Arg863=)
c.2461C= (p.Arg821=)
c.2455C= (p.Arg819=)
c.2404C= (p.Arg802=)
c.2437C= (p.Arg813=)
c.2410C= (p.Arg804=)
c.2386C= (p.Arg796=)
12g.8937258C>GCA383816050PHC1c.2560C>G (p.Arg854Gly)
c.2425C>G (p.Arg809Gly)
c.*1410C>G (n.*1410C>G)
c.284-2613C>G (n.284-2613C>G)
c.2536C>G (p.Arg846Gly)
c.2611C>G (p.Arg871Gly)
c.2587C>G (p.Arg863Gly)
c.2461C>G (p.Arg821Gly)
c.2455C>G (p.Arg819Gly)
c.2404C>G (p.Arg802Gly)
c.2437C>G (p.Arg813Gly)
c.2410C>G (p.Arg804Gly)
c.2386C>G (p.Arg796Gly)
 dbSNP gnomAD v2 gnomAD v4
12g.8937258C>TCA6437264PHC1c.2560C>T (p.Arg854Cys)
c.2425C>T (p.Arg809Cys)
c.*1410C>T (n.*1410C>T)
c.284-2613C>T (n.284-2613C>T)
c.2536C>T (p.Arg846Cys)
c.2611C>T (p.Arg871Cys)
c.2587C>T (p.Arg863Cys)
c.2461C>T (p.Arg821Cys)
c.2455C>T (p.Arg819Cys)
c.2404C>T (p.Arg802Cys)
c.2437C>T (p.Arg813Cys)
c.2410C>T (p.Arg804Cys)
c.2386C>T (p.Arg796Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.8937259G>ACA6437265PHC1c.2561G>A (p.Arg854His)
c.2426G>A (p.Arg809His)
c.*1411G>A (n.*1411G>A)
c.284-2612G>A (n.284-2612G>A)
c.2537G>A (p.Arg846His)
c.2612G>A (p.Arg871His)
c.2588G>A (p.Arg863His)
c.2462G>A (p.Arg821His)
c.2456G>A (p.Arg819His)
c.2405G>A (p.Arg802His)
c.2438G>A (p.Arg813His)
c.2411G>A (p.Arg804His)
c.2387G>A (p.Arg796His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.8937259G>CCA383816051PHC1c.2561G>C (p.Arg854Pro)
c.2426G>C (p.Arg809Pro)
c.*1411G>C (n.*1411G>C)
c.284-2612G>C (n.284-2612G>C)
c.2537G>C (p.Arg846Pro)
c.2612G>C (p.Arg871Pro)
c.2588G>C (p.Arg863Pro)
c.2462G>C (p.Arg821Pro)
c.2456G>C (p.Arg819Pro)
c.2405G>C (p.Arg802Pro)
c.2438G>C (p.Arg813Pro)
c.2411G>C (p.Arg804Pro)
c.2387G>C (p.Arg796Pro)
 gnomAD v4
12g.8937259G=CA2015272712PHC1c.2561G= (p.Arg854=)
c.2426G= (p.Arg809=)
c.*1411G= (n.*1411G=)
c.284-2612G= (n.284-2612G=)
c.2537G= (p.Arg846=)
c.2612G= (p.Arg871=)
c.2588G= (p.Arg863=)
c.2462G= (p.Arg821=)
c.2456G= (p.Arg819=)
c.2405G= (p.Arg802=)
c.2438G= (p.Arg813=)
c.2411G= (p.Arg804=)
c.2387G= (p.Arg796=)
12g.8937259G>TCA6437266PHC1c.2561G>T (p.Arg854Leu)
c.2426G>T (p.Arg809Leu)
c.*1411G>T (n.*1411G>T)
c.284-2612G>T (n.284-2612G>T)
c.2537G>T (p.Arg846Leu)
c.2612G>T (p.Arg871Leu)
c.2588G>T (p.Arg863Leu)
c.2462G>T (p.Arg821Leu)
c.2456G>T (p.Arg819Leu)
c.2405G>T (p.Arg802Leu)
c.2438G>T (p.Arg813Leu)
c.2411G>T (p.Arg804Leu)
c.2387G>T (p.Arg796Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.8937260C>ACA478307740PHC1c.2562C>A (p.Arg854=)
c.2427C>A (p.Arg809=)
c.*1412C>A (n.*1412C>A)
c.284-2611C>A (n.284-2611C>A)
c.2538C>A (p.Arg846=)
c.2613C>A (p.Arg871=)
c.2589C>A (p.Arg863=)
c.2463C>A (p.Arg821=)
c.2457C>A (p.Arg819=)
c.2406C>A (p.Arg802=)
c.2439C>A (p.Arg813=)
c.2412C>A (p.Arg804=)
c.2388C>A (p.Arg796=)
12g.8937260C=CA2015272713PHC1c.2562C= (p.Arg854=)
c.2427C= (p.Arg809=)
c.*1412C= (n.*1412C=)
c.284-2611C= (n.284-2611C=)
c.2538C= (p.Arg846=)
c.2613C= (p.Arg871=)
c.2589C= (p.Arg863=)
c.2463C= (p.Arg821=)
c.2457C= (p.Arg819=)
c.2406C= (p.Arg802=)
c.2439C= (p.Arg813=)
c.2412C= (p.Arg804=)
c.2388C= (p.Arg796=)
12g.8937260C>GCA478307738PHC1c.2562C>G (p.Arg854=)
c.2427C>G (p.Arg809=)
c.*1412C>G (n.*1412C>G)
c.284-2611C>G (n.284-2611C>G)
c.2538C>G (p.Arg846=)
c.2613C>G (p.Arg871=)
c.2589C>G (p.Arg863=)
c.2463C>G (p.Arg821=)
c.2457C>G (p.Arg819=)
c.2406C>G (p.Arg802=)
c.2439C>G (p.Arg813=)
c.2412C>G (p.Arg804=)
c.2388C>G (p.Arg796=)
12g.8937260C>TCA478307739PHC1c.2562C>T (p.Arg854=)
c.2427C>T (p.Arg809=)
c.*1412C>T (n.*1412C>T)
c.284-2611C>T (n.284-2611C>T)
c.2538C>T (p.Arg846=)
c.2613C>T (p.Arg871=)
c.2589C>T (p.Arg863=)
c.2463C>T (p.Arg821=)
c.2457C>T (p.Arg819=)
c.2406C>T (p.Arg802=)
c.2439C>T (p.Arg813=)
c.2412C>T (p.Arg804=)
c.2388C>T (p.Arg796=)
 dbSNP gnomAD v2 gnomAD v4
12g.8937261A>CCA478307743PHC1c.2563A>C (p.Arg855=)
c.2428A>C (p.Arg810=)
c.*1413A>C (n.*1413A>C)
c.284-2610A>C (n.284-2610A>C)
c.2539A>C (p.Arg847=)
c.2614A>C (p.Arg872=)
c.2590A>C (p.Arg864=)
c.2464A>C (p.Arg822=)
c.2458A>C (p.Arg820=)
c.2407A>C (p.Arg803=)
c.2440A>C (p.Arg814=)
c.2413A>C (p.Arg805=)
c.2389A>C (p.Arg797=)
12g.8937261A>GCA383816052PHC1c.2563A>G (p.Arg855Gly)
c.2428A>G (p.Arg810Gly)
c.*1413A>G (n.*1413A>G)
c.284-2610A>G (n.284-2610A>G)
c.2539A>G (p.Arg847Gly)
c.2614A>G (p.Arg872Gly)
c.2590A>G (p.Arg864Gly)
c.2464A>G (p.Arg822Gly)
c.2458A>G (p.Arg820Gly)
c.2407A>G (p.Arg803Gly)
c.2440A>G (p.Arg814Gly)
c.2413A>G (p.Arg805Gly)
c.2389A>G (p.Arg797Gly)
12g.8937261A>TCA383816053PHC1c.2563A>T (p.Arg855Trp)
c.2428A>T (p.Arg810Trp)
c.*1413A>T (n.*1413A>T)
c.284-2610A>T (n.284-2610A>T)
c.2539A>T (p.Arg847Trp)
c.2614A>T (p.Arg872Trp)
c.2590A>T (p.Arg864Trp)
c.2464A>T (p.Arg822Trp)
c.2458A>T (p.Arg820Trp)
c.2407A>T (p.Arg803Trp)
c.2440A>T (p.Arg814Trp)
c.2413A>T (p.Arg805Trp)
c.2389A>T (p.Arg797Trp)
12g.8937262G>ACA383816054PHC1c.2564G>A (p.Arg855Lys)
c.2429G>A (p.Arg810Lys)
c.*1414G>A (n.*1414G>A)
c.284-2609G>A (n.284-2609G>A)
c.2540G>A (p.Arg847Lys)
c.2615G>A (p.Arg872Lys)
c.2591G>A (p.Arg864Lys)
c.2465G>A (p.Arg822Lys)
c.2459G>A (p.Arg820Lys)
c.2408G>A (p.Arg803Lys)
c.2441G>A (p.Arg814Lys)
c.2414G>A (p.Arg805Lys)
c.2390G>A (p.Arg797Lys)
12g.8937262G>CCA383816055PHC1c.2564G>C (p.Arg855Thr)
c.2429G>C (p.Arg810Thr)
c.*1414G>C (n.*1414G>C)
c.284-2609G>C (n.284-2609G>C)
c.2540G>C (p.Arg847Thr)
c.2615G>C (p.Arg872Thr)
c.2591G>C (p.Arg864Thr)
c.2465G>C (p.Arg822Thr)
c.2459G>C (p.Arg820Thr)
c.2408G>C (p.Arg803Thr)
c.2441G>C (p.Arg814Thr)
c.2414G>C (p.Arg805Thr)
c.2390G>C (p.Arg797Thr)
12g.8937262G>TCA383816056PHC1c.2564G>T (p.Arg855Met)
c.2429G>T (p.Arg810Met)
c.*1414G>T (n.*1414G>T)
c.284-2609G>T (n.284-2609G>T)
c.2540G>T (p.Arg847Met)
c.2615G>T (p.Arg872Met)
c.2591G>T (p.Arg864Met)
c.2465G>T (p.Arg822Met)
c.2459G>T (p.Arg820Met)
c.2408G>T (p.Arg803Met)
c.2441G>T (p.Arg814Met)
c.2414G>T (p.Arg805Met)
c.2390G>T (p.Arg797Met)
12g.8937263G>ACA478307754PHC1c.2565G>A (p.Arg855=)
c.2430G>A (p.Arg810=)
c.*1415G>A (n.*1415G>A)
c.284-2608G>A (n.284-2608G>A)
c.2541G>A (p.Arg847=)
c.2616G>A (p.Arg872=)
c.2592G>A (p.Arg864=)
c.2466G>A (p.Arg822=)
c.2460G>A (p.Arg820=)
c.2409G>A (p.Arg803=)
c.2442G>A (p.Arg814=)
c.2415G>A (p.Arg805=)
c.2391G>A (p.Arg797=)
12g.8937263G>CCA383816057PHC1c.2565G>C (p.Arg855Ser)
c.2430G>C (p.Arg810Ser)
c.*1415G>C (n.*1415G>C)
c.284-2608G>C (n.284-2608G>C)
c.2541G>C (p.Arg847Ser)
c.2616G>C (p.Arg872Ser)
c.2592G>C (p.Arg864Ser)
c.2466G>C (p.Arg822Ser)
c.2460G>C (p.Arg820Ser)
c.2409G>C (p.Arg803Ser)
c.2442G>C (p.Arg814Ser)
c.2415G>C (p.Arg805Ser)
c.2391G>C (p.Arg797Ser)
12g.8937263G>TCA383816058PHC1c.2565G>T (p.Arg855Ser)
c.2430G>T (p.Arg810Ser)
c.*1415G>T (n.*1415G>T)
c.284-2608G>T (n.284-2608G>T)
c.2541G>T (p.Arg847Ser)
c.2616G>T (p.Arg872Ser)
c.2592G>T (p.Arg864Ser)
c.2466G>T (p.Arg822Ser)
c.2460G>T (p.Arg820Ser)
c.2409G>T (p.Arg803Ser)
c.2442G>T (p.Arg814Ser)
c.2415G>T (p.Arg805Ser)
c.2391G>T (p.Arg797Ser)
12g.8937264C>ACA383816059PHC1c.2566C>A (p.Arg856Ser)
c.2431C>A (p.Arg811Ser)
c.*1416C>A (n.*1416C>A)
c.284-2607C>A (n.284-2607C>A)
c.2542C>A (p.Arg848Ser)
c.2617C>A (p.Arg873Ser)
c.2593C>A (p.Arg865Ser)
c.2467C>A (p.Arg823Ser)
c.2461C>A (p.Arg821Ser)
c.2410C>A (p.Arg804Ser)
c.2443C>A (p.Arg815Ser)
c.2416C>A (p.Arg806Ser)
c.2392C>A (p.Arg798Ser)
12g.8937264C=CA2015272714PHC1c.2566C= (p.Arg856=)
c.2431C= (p.Arg811=)
c.*1416C= (n.*1416C=)
c.284-2607C= (n.284-2607C=)
c.2542C= (p.Arg848=)
c.2617C= (p.Arg873=)
c.2593C= (p.Arg865=)
c.2467C= (p.Arg823=)
c.2461C= (p.Arg821=)
c.2410C= (p.Arg804=)
c.2443C= (p.Arg815=)
c.2416C= (p.Arg806=)
c.2392C= (p.Arg798=)
12g.8937264C>GCA383816060PHC1c.2566C>G (p.Arg856Gly)
c.2431C>G (p.Arg811Gly)
c.*1416C>G (n.*1416C>G)
c.284-2607C>G (n.284-2607C>G)
c.2542C>G (p.Arg848Gly)
c.2617C>G (p.Arg873Gly)
c.2593C>G (p.Arg865Gly)
c.2467C>G (p.Arg823Gly)
c.2461C>G (p.Arg821Gly)
c.2410C>G (p.Arg804Gly)
c.2443C>G (p.Arg815Gly)
c.2416C>G (p.Arg806Gly)
c.2392C>G (p.Arg798Gly)
12g.8937264C>TCA6437267PHC1c.2566C>T (p.Arg856Cys)
c.2431C>T (p.Arg811Cys)
c.*1416C>T (n.*1416C>T)
c.284-2607C>T (n.284-2607C>T)
c.2542C>T (p.Arg848Cys)
c.2617C>T (p.Arg873Cys)
c.2593C>T (p.Arg865Cys)
c.2467C>T (p.Arg823Cys)
c.2461C>T (p.Arg821Cys)
c.2410C>T (p.Arg804Cys)
c.2443C>T (p.Arg815Cys)
c.2416C>T (p.Arg806Cys)
c.2392C>T (p.Arg798Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.8937265G>ACA6437268PHC1c.2567G>A (p.Arg856His)
c.2432G>A (p.Arg811His)
c.*1417G>A (n.*1417G>A)
c.284-2606G>A (n.284-2606G>A)
c.2543G>A (p.Arg848His)
c.2618G>A (p.Arg873His)
c.2594G>A (p.Arg865His)
c.2468G>A (p.Arg823His)
c.2462G>A (p.Arg821His)
c.2411G>A (p.Arg804His)
c.2444G>A (p.Arg815His)
c.2417G>A (p.Arg806His)
c.2393G>A (p.Arg798His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.8937265G>CCA6437269PHC1c.2567G>C (p.Arg856Pro)
c.2432G>C (p.Arg811Pro)
c.*1417G>C (n.*1417G>C)
c.284-2606G>C (n.284-2606G>C)
c.2543G>C (p.Arg848Pro)
c.2618G>C (p.Arg873Pro)
c.2594G>C (p.Arg865Pro)
c.2468G>C (p.Arg823Pro)
c.2462G>C (p.Arg821Pro)
c.2411G>C (p.Arg804Pro)
c.2444G>C (p.Arg815Pro)
c.2417G>C (p.Arg806Pro)
c.2393G>C (p.Arg798Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.8937265G=CA2015272715PHC1c.2567G= (p.Arg856=)
c.2432G= (p.Arg811=)
c.*1417G= (n.*1417G=)
c.284-2606G= (n.284-2606G=)
c.2543G= (p.Arg848=)
c.2618G= (p.Arg873=)
c.2594G= (p.Arg865=)
c.2468G= (p.Arg823=)
c.2462G= (p.Arg821=)
c.2411G= (p.Arg804=)
c.2444G= (p.Arg815=)
c.2417G= (p.Arg806=)
c.2393G= (p.Arg798=)
12g.8937265G>TCA383816061PHC1c.2567G>T (p.Arg856Leu)
c.2432G>T (p.Arg811Leu)
c.*1417G>T (n.*1417G>T)
c.284-2606G>T (n.284-2606G>T)
c.2543G>T (p.Arg848Leu)
c.2618G>T (p.Arg873Leu)
c.2594G>T (p.Arg865Leu)
c.2468G>T (p.Arg823Leu)
c.2462G>T (p.Arg821Leu)
c.2411G>T (p.Arg804Leu)
c.2444G>T (p.Arg815Leu)
c.2417G>T (p.Arg806Leu)
c.2393G>T (p.Arg798Leu)
 COSMIC
12g.8937266T>ACA478307777PHC1c.2568T>A (p.Arg856=)
c.2433T>A (p.Arg811=)
c.*1418T>A (n.*1418T>A)
c.284-2605T>A (n.284-2605T>A)
c.2544T>A (p.Arg848=)
c.2619T>A (p.Arg873=)
c.2595T>A (p.Arg865=)
c.2469T>A (p.Arg823=)
c.2463T>A (p.Arg821=)
c.2412T>A (p.Arg804=)
c.2445T>A (p.Arg815=)
c.2418T>A (p.Arg806=)
c.2394T>A (p.Arg798=)
12g.8937266T>CCA232656668PHC1c.2568T>C (p.Arg856=)
c.2433T>C (p.Arg811=)
c.*1418T>C (n.*1418T>C)
c.284-2605T>C (n.284-2605T>C)
c.2544T>C (p.Arg848=)
c.2619T>C (p.Arg873=)
c.2595T>C (p.Arg865=)
c.2469T>C (p.Arg823=)
c.2463T>C (p.Arg821=)
c.2412T>C (p.Arg804=)
c.2445T>C (p.Arg815=)
c.2418T>C (p.Arg806=)
c.2394T>C (p.Arg798=)
 dbSNP gnomAD v2 gnomAD v4
12g.8937266T>GCA478307794PHC1c.2568T>G (p.Arg856=)
c.2433T>G (p.Arg811=)
c.*1418T>G (n.*1418T>G)
c.284-2605T>G (n.284-2605T>G)
c.2544T>G (p.Arg848=)
c.2619T>G (p.Arg873=)
c.2595T>G (p.Arg865=)
c.2469T>G (p.Arg823=)
c.2463T>G (p.Arg821=)
c.2412T>G (p.Arg804=)
c.2445T>G (p.Arg815=)
c.2418T>G (p.Arg806=)
c.2394T>G (p.Arg798=)
 dbSNP
12g.8937266T=CA2015272716PHC1c.2568T= (p.Arg856=)
c.2433T= (p.Arg811=)
c.*1418T= (n.*1418T=)
c.284-2605T= (n.284-2605T=)
c.2544T= (p.Arg848=)
c.2619T= (p.Arg873=)
c.2595T= (p.Arg865=)
c.2469T= (p.Arg823=)
c.2463T= (p.Arg821=)
c.2412T= (p.Arg804=)
c.2445T= (p.Arg815=)
c.2418T= (p.Arg806=)
c.2394T= (p.Arg798=)
12g.8937267G>ACA383816064PHC1c.2569G>A (p.Gly857Arg)
c.2434G>A (p.Gly812Arg)
c.*1419G>A (n.*1419G>A)
c.284-2604G>A (n.284-2604G>A)
c.2545G>A (p.Gly849Arg)
c.2620G>A (p.Gly874Arg)
c.2596G>A (p.Gly866Arg)
c.2470G>A (p.Gly824Arg)
c.2464G>A (p.Gly822Arg)
c.2413G>A (p.Gly805Arg)
c.2446G>A (p.Gly816Arg)
c.2419G>A (p.Gly807Arg)
c.2395G>A (p.Gly799Arg)
12g.8937267G>CCA383816062PHC1c.2569G>C (p.Gly857Arg)
c.2434G>C (p.Gly812Arg)
c.*1419G>C (n.*1419G>C)
c.284-2604G>C (n.284-2604G>C)
c.2545G>C (p.Gly849Arg)
c.2620G>C (p.Gly874Arg)
c.2596G>C (p.Gly866Arg)
c.2470G>C (p.Gly824Arg)
c.2464G>C (p.Gly822Arg)
c.2413G>C (p.Gly805Arg)
c.2446G>C (p.Gly816Arg)
c.2419G>C (p.Gly807Arg)
c.2395G>C (p.Gly799Arg)
12g.8937267G>TCA383816063PHC1c.2569G>T (p.Gly857Ter)
c.2434G>T (p.Gly812Ter)
c.*1419G>T (n.*1419G>T)
c.284-2604G>T (n.284-2604G>T)
c.2545G>T (p.Gly849Ter)
c.2620G>T (p.Gly874Ter)
c.2596G>T (p.Gly866Ter)
c.2470G>T (p.Gly824Ter)
c.2464G>T (p.Gly822Ter)
c.2413G>T (p.Gly805Ter)
c.2446G>T (p.Gly816Ter)
c.2419G>T (p.Gly807Ter)
c.2395G>T (p.Gly799Ter)
12g.8937268G>ACA383816065PHC1c.2570G>A (p.Gly857Glu)
c.2435G>A (p.Gly812Glu)
c.*1420G>A (n.*1420G>A)
c.284-2603G>A (n.284-2603G>A)
c.2546G>A (p.Gly849Glu)
c.2621G>A (p.Gly874Glu)
c.2597G>A (p.Gly866Glu)
c.2471G>A (p.Gly824Glu)
c.2465G>A (p.Gly822Glu)
c.2414G>A (p.Gly805Glu)
c.2447G>A (p.Gly816Glu)
c.2420G>A (p.Gly807Glu)
c.2396G>A (p.Gly799Glu)
12g.8937268G>CCA383816066PHC1c.2570G>C (p.Gly857Ala)
c.2435G>C (p.Gly812Ala)
c.*1420G>C (n.*1420G>C)
c.284-2603G>C (n.284-2603G>C)
c.2546G>C (p.Gly849Ala)
c.2621G>C (p.Gly874Ala)
c.2597G>C (p.Gly866Ala)
c.2471G>C (p.Gly824Ala)
c.2465G>C (p.Gly822Ala)
c.2414G>C (p.Gly805Ala)
c.2447G>C (p.Gly816Ala)
c.2420G>C (p.Gly807Ala)
c.2396G>C (p.Gly799Ala)
12g.8937268G>TCA383816067PHC1c.2570G>T (p.Gly857Val)
c.2435G>T (p.Gly812Val)
c.*1420G>T (n.*1420G>T)
c.284-2603G>T (n.284-2603G>T)
c.2546G>T (p.Gly849Val)
c.2621G>T (p.Gly874Val)
c.2597G>T (p.Gly866Val)
c.2471G>T (p.Gly824Val)
c.2465G>T (p.Gly822Val)
c.2414G>T (p.Gly805Val)
c.2447G>T (p.Gly816Val)
c.2420G>T (p.Gly807Val)
c.2396G>T (p.Gly799Val)
12g.8937269A=CA2015272717PHC1c.2571A= (p.Gly857=)
c.2436A= (p.Gly812=)
c.*1421A= (n.*1421A=)
c.284-2602A= (n.284-2602A=)
c.2547A= (p.Gly849=)
c.2622A= (p.Gly874=)
c.2598A= (p.Gly866=)
c.2472A= (p.Gly824=)
c.2466A= (p.Gly822=)
c.2415A= (p.Gly805=)
c.2448A= (p.Gly816=)
c.2421A= (p.Gly807=)
c.2397A= (p.Gly799=)
12g.8937269A>CCA478307812PHC1c.2571A>C (p.Gly857=)
c.2436A>C (p.Gly812=)
c.*1421A>C (n.*1421A>C)
c.284-2602A>C (n.284-2602A>C)
c.2547A>C (p.Gly849=)
c.2622A>C (p.Gly874=)
c.2598A>C (p.Gly866=)
c.2472A>C (p.Gly824=)
c.2466A>C (p.Gly822=)
c.2415A>C (p.Gly805=)
c.2448A>C (p.Gly816=)
c.2421A>C (p.Gly807=)
c.2397A>C (p.Gly799=)
 dbSNP gnomAD v2 gnomAD v4
12g.8937269A>GCA478307813PHC1c.2571A>G (p.Gly857=)
c.2436A>G (p.Gly812=)
c.*1421A>G (n.*1421A>G)
c.284-2602A>G (n.284-2602A>G)
c.2547A>G (p.Gly849=)
c.2622A>G (p.Gly874=)
c.2598A>G (p.Gly866=)
c.2472A>G (p.Gly824=)
c.2466A>G (p.Gly822=)
c.2415A>G (p.Gly805=)
c.2448A>G (p.Gly816=)
c.2421A>G (p.Gly807=)
c.2397A>G (p.Gly799=)
12g.8937269A>TCA478307816PHC1c.2571A>T (p.Gly857=)
c.2436A>T (p.Gly812=)
c.*1421A>T (n.*1421A>T)
c.284-2602A>T (n.284-2602A>T)
c.2547A>T (p.Gly849=)
c.2622A>T (p.Gly874=)
c.2598A>T (p.Gly866=)
c.2472A>T (p.Gly824=)
c.2466A>T (p.Gly822=)
c.2415A>T (p.Gly805=)
c.2448A>T (p.Gly816=)
c.2421A>T (p.Gly807=)
c.2397A>T (p.Gly799=)
12g.8937270C>ACA383816068PHC1c.2572C>A (p.Pro858Thr)
c.2437C>A (p.Pro813Thr)
c.*1422C>A (n.*1422C>A)
c.284-2601C>A (n.284-2601C>A)
c.2548C>A (p.Pro850Thr)
c.2623C>A (p.Pro875Thr)
c.2599C>A (p.Pro867Thr)
c.2473C>A (p.Pro825Thr)
c.2467C>A (p.Pro823Thr)
c.2416C>A (p.Pro806Thr)
c.2449C>A (p.Pro817Thr)
c.2422C>A (p.Pro808Thr)
c.2398C>A (p.Pro800Thr)
12g.8937270C>GCA383816069PHC1c.2572C>G (p.Pro858Ala)
c.2437C>G (p.Pro813Ala)
c.*1422C>G (n.*1422C>G)
c.284-2601C>G (n.284-2601C>G)
c.2548C>G (p.Pro850Ala)
c.2623C>G (p.Pro875Ala)
c.2599C>G (p.Pro867Ala)
c.2473C>G (p.Pro825Ala)
c.2467C>G (p.Pro823Ala)
c.2416C>G (p.Pro806Ala)
c.2449C>G (p.Pro817Ala)
c.2422C>G (p.Pro808Ala)
c.2398C>G (p.Pro800Ala)
12g.8937270C>TCA383816070PHC1c.2572C>T (p.Pro858Ser)
c.2437C>T (p.Pro813Ser)
c.*1422C>T (n.*1422C>T)
c.284-2601C>T (n.284-2601C>T)
c.2548C>T (p.Pro850Ser)
c.2623C>T (p.Pro875Ser)
c.2599C>T (p.Pro867Ser)
c.2473C>T (p.Pro825Ser)
c.2467C>T (p.Pro823Ser)
c.2416C>T (p.Pro806Ser)
c.2449C>T (p.Pro817Ser)
c.2422C>T (p.Pro808Ser)
c.2398C>T (p.Pro800Ser)
12g.8937271C>ACA383816071PHC1c.2573C>A (p.Pro858His)
c.2438C>A (p.Pro813His)
c.*1423C>A (n.*1423C>A)
c.284-2600C>A (n.284-2600C>A)
c.2549C>A (p.Pro850His)
c.2624C>A (p.Pro875His)
c.2600C>A (p.Pro867His)
c.2474C>A (p.Pro825His)
c.2468C>A (p.Pro823His)
c.2417C>A (p.Pro806His)
c.2450C>A (p.Pro817His)
c.2423C>A (p.Pro808His)
c.2399C>A (p.Pro800His)
12g.8937271C=CA2015272718PHC1c.2573C= (p.Pro858=)
c.2438C= (p.Pro813=)
c.*1423C= (n.*1423C=)
c.284-2600C= (n.284-2600C=)
c.2549C= (p.Pro850=)
c.2624C= (p.Pro875=)
c.2600C= (p.Pro867=)
c.2474C= (p.Pro825=)
c.2468C= (p.Pro823=)
c.2417C= (p.Pro806=)
c.2450C= (p.Pro817=)
c.2423C= (p.Pro808=)
c.2399C= (p.Pro800=)
12g.8937271C>GCA383816072PHC1c.2573C>G (p.Pro858Arg)
c.2438C>G (p.Pro813Arg)
c.*1423C>G (n.*1423C>G)
c.284-2600C>G (n.284-2600C>G)
c.2549C>G (p.Pro850Arg)
c.2624C>G (p.Pro875Arg)
c.2600C>G (p.Pro867Arg)
c.2474C>G (p.Pro825Arg)
c.2468C>G (p.Pro823Arg)
c.2417C>G (p.Pro806Arg)
c.2450C>G (p.Pro817Arg)
c.2423C>G (p.Pro808Arg)
c.2399C>G (p.Pro800Arg)
12g.8937271C>TCA383816073PHC1c.2573C>T (p.Pro858Leu)
c.2438C>T (p.Pro813Leu)
c.*1423C>T (n.*1423C>T)
c.284-2600C>T (n.284-2600C>T)
c.2549C>T (p.Pro850Leu)
c.2624C>T (p.Pro875Leu)
c.2600C>T (p.Pro867Leu)
c.2474C>T (p.Pro825Leu)
c.2468C>T (p.Pro823Leu)
c.2417C>T (p.Pro806Leu)
c.2450C>T (p.Pro817Leu)
c.2423C>T (p.Pro808Leu)
c.2399C>T (p.Pro800Leu)
 dbSNP gnomAD v3 gnomAD v4
12g.8937272C>ACA478307832PHC1c.2574C>A (p.Pro858=)
c.2439C>A (p.Pro813=)
c.*1424C>A (n.*1424C>A)
c.284-2599C>A (n.284-2599C>A)
c.2550C>A (p.Pro850=)
c.2625C>A (p.Pro875=)
c.2601C>A (p.Pro867=)
c.2475C>A (p.Pro825=)
c.2469C>A (p.Pro823=)
c.2418C>A (p.Pro806=)
c.2451C>A (p.Pro817=)
c.2424C>A (p.Pro808=)
c.2400C>A (p.Pro800=)
 dbSNP
12g.8937272C=CA2015272719PHC1c.2574C= (p.Pro858=)
c.2439C= (p.Pro813=)
c.*1424C= (n.*1424C=)
c.284-2599C= (n.284-2599C=)
c.2550C= (p.Pro850=)
c.2625C= (p.Pro875=)
c.2601C= (p.Pro867=)
c.2475C= (p.Pro825=)
c.2469C= (p.Pro823=)
c.2418C= (p.Pro806=)
c.2451C= (p.Pro817=)
c.2424C= (p.Pro808=)
c.2400C= (p.Pro800=)
12g.8937272C>GCA478307835PHC1c.2574C>G (p.Pro858=)
c.2439C>G (p.Pro813=)
c.*1424C>G (n.*1424C>G)
c.284-2599C>G (n.284-2599C>G)
c.2550C>G (p.Pro850=)
c.2625C>G (p.Pro875=)
c.2601C>G (p.Pro867=)
c.2475C>G (p.Pro825=)
c.2469C>G (p.Pro823=)
c.2418C>G (p.Pro806=)
c.2451C>G (p.Pro817=)
c.2424C>G (p.Pro808=)
c.2400C>G (p.Pro800=)
12g.8937272C>TCA478307836PHC1c.2574C>T (p.Pro858=)
c.2439C>T (p.Pro813=)
c.*1424C>T (n.*1424C>T)
c.284-2599C>T (n.284-2599C>T)
c.2550C>T (p.Pro850=)
c.2625C>T (p.Pro875=)
c.2601C>T (p.Pro867=)
c.2475C>T (p.Pro825=)
c.2469C>T (p.Pro823=)
c.2418C>T (p.Pro806=)
c.2451C>T (p.Pro817=)
c.2424C>T (p.Pro808=)
c.2400C>T (p.Pro800=)
 gnomAD v4
12g.8937273C>ACA383816075PHC1c.2575C>A (p.Arg859Ser)
c.2440C>A (p.Arg814Ser)
c.*1425C>A (n.*1425C>A)
c.284-2598C>A (n.284-2598C>A)
c.2551C>A (p.Arg851Ser)
c.2626C>A (p.Arg876Ser)
c.2602C>A (p.Arg868Ser)
c.2476C>A (p.Arg826Ser)
c.2470C>A (p.Arg824Ser)
c.2419C>A (p.Arg807Ser)
c.2452C>A (p.Arg818Ser)
c.2425C>A (p.Arg809Ser)
c.2401C>A (p.Arg801Ser)
12g.8937273C=CA2015272720PHC1c.2575C= (p.Arg859=)
c.2440C= (p.Arg814=)
c.*1425C= (n.*1425C=)
c.284-2598C= (n.284-2598C=)
c.2551C= (p.Arg851=)
c.2626C= (p.Arg876=)
c.2602C= (p.Arg868=)
c.2476C= (p.Arg826=)
c.2470C= (p.Arg824=)
c.2419C= (p.Arg807=)
c.2452C= (p.Arg818=)
c.2425C= (p.Arg809=)
c.2401C= (p.Arg801=)
12g.8937273C>GCA383816074PHC1c.2575C>G (p.Arg859Gly)
c.2440C>G (p.Arg814Gly)
c.*1425C>G (n.*1425C>G)
c.284-2598C>G (n.284-2598C>G)
c.2551C>G (p.Arg851Gly)
c.2626C>G (p.Arg876Gly)
c.2602C>G (p.Arg868Gly)
c.2476C>G (p.Arg826Gly)
c.2470C>G (p.Arg824Gly)
c.2419C>G (p.Arg807Gly)
c.2452C>G (p.Arg818Gly)
c.2425C>G (p.Arg809Gly)
c.2401C>G (p.Arg801Gly)
 gnomAD v4
12g.8937273C>TCA6437270PHC1c.2575C>T (p.Arg859Cys)
c.2440C>T (p.Arg814Cys)
c.*1425C>T (n.*1425C>T)
c.284-2598C>T (n.284-2598C>T)
c.2551C>T (p.Arg851Cys)
c.2626C>T (p.Arg876Cys)
c.2602C>T (p.Arg868Cys)
c.2476C>T (p.Arg826Cys)
c.2470C>T (p.Arg824Cys)
c.2419C>T (p.Arg807Cys)
c.2452C>T (p.Arg818Cys)
c.2425C>T (p.Arg809Cys)
c.2401C>T (p.Arg801Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.8937274G>ACA6437271PHC1c.2576G>A (p.Arg859His)
c.2441G>A (p.Arg814His)
c.*1426G>A (n.*1426G>A)
c.284-2597G>A (n.284-2597G>A)
c.2552G>A (p.Arg851His)
c.2627G>A (p.Arg876His)
c.2603G>A (p.Arg868His)
c.2477G>A (p.Arg826His)
c.2471G>A (p.Arg824His)
c.2420G>A (p.Arg807His)
c.2453G>A (p.Arg818His)
c.2426G>A (p.Arg809His)
c.2402G>A (p.Arg801His)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.8937274G>CCA383816076PHC1c.2576G>C (p.Arg859Pro)
c.2441G>C (p.Arg814Pro)
c.*1426G>C (n.*1426G>C)
c.284-2597G>C (n.284-2597G>C)
c.2552G>C (p.Arg851Pro)
c.2627G>C (p.Arg876Pro)
c.2603G>C (p.Arg868Pro)
c.2477G>C (p.Arg826Pro)
c.2471G>C (p.Arg824Pro)
c.2420G>C (p.Arg807Pro)
c.2453G>C (p.Arg818Pro)
c.2426G>C (p.Arg809Pro)
c.2402G>C (p.Arg801Pro)
 gnomAD v4
12g.8937274G=CA2015272721PHC1c.2576G= (p.Arg859=)
c.2441G= (p.Arg814=)
c.*1426G= (n.*1426G=)
c.284-2597G= (n.284-2597G=)
c.2552G= (p.Arg851=)
c.2627G= (p.Arg876=)
c.2603G= (p.Arg868=)
c.2477G= (p.Arg826=)
c.2471G= (p.Arg824=)
c.2420G= (p.Arg807=)
c.2453G= (p.Arg818=)
c.2426G= (p.Arg809=)
c.2402G= (p.Arg801=)
12g.8937274G>TCA383816077PHC1c.2576G>T (p.Arg859Leu)
c.2441G>T (p.Arg814Leu)
c.*1426G>T (n.*1426G>T)
c.284-2597G>T (n.284-2597G>T)
c.2552G>T (p.Arg851Leu)
c.2627G>T (p.Arg876Leu)
c.2603G>T (p.Arg868Leu)
c.2477G>T (p.Arg826Leu)
c.2471G>T (p.Arg824Leu)
c.2420G>T (p.Arg807Leu)
c.2453G>T (p.Arg818Leu)
c.2426G>T (p.Arg809Leu)
c.2402G>T (p.Arg801Leu)
 gnomAD v4
12g.8937275C>ACA478307865PHC1c.2577C>A (p.Arg859=)
c.2442C>A (p.Arg814=)
c.*1427C>A (n.*1427C>A)
c.284-2596C>A (n.284-2596C>A)
c.2553C>A (p.Arg851=)
c.2628C>A (p.Arg876=)
c.2604C>A (p.Arg868=)
c.2478C>A (p.Arg826=)
c.2472C>A (p.Arg824=)
c.2421C>A (p.Arg807=)
c.2454C>A (p.Arg818=)
c.2427C>A (p.Arg809=)
c.2403C>A (p.Arg801=)
12g.8937275C>GCA478307867PHC1c.2577C>G (p.Arg859=)
c.2442C>G (p.Arg814=)
c.*1427C>G (n.*1427C>G)
c.284-2596C>G (n.284-2596C>G)
c.2553C>G (p.Arg851=)
c.2628C>G (p.Arg876=)
c.2604C>G (p.Arg868=)
c.2478C>G (p.Arg826=)
c.2472C>G (p.Arg824=)
c.2421C>G (p.Arg807=)
c.2454C>G (p.Arg818=)
c.2427C>G (p.Arg809=)
c.2403C>G (p.Arg801=)
12g.8937275C>TCA478307869PHC1c.2577C>T (p.Arg859=)
c.2442C>T (p.Arg814=)
c.*1427C>T (n.*1427C>T)
c.284-2596C>T (n.284-2596C>T)
c.2553C>T (p.Arg851=)
c.2628C>T (p.Arg876=)
c.2604C>T (p.Arg868=)
c.2478C>T (p.Arg826=)
c.2472C>T (p.Arg824=)
c.2421C>T (p.Arg807=)
c.2454C>T (p.Arg818=)
c.2427C>T (p.Arg809=)
c.2403C>T (p.Arg801=)
12g.8937276C>ACA383816078PHC1c.2578C>A (p.Arg860Ser)
c.2443C>A (p.Arg815Ser)
c.*1428C>A (n.*1428C>A)
c.284-2595C>A (n.284-2595C>A)
c.2554C>A (p.Arg852Ser)
c.2629C>A (p.Arg877Ser)
c.2605C>A (p.Arg869Ser)
c.2479C>A (p.Arg827Ser)
c.2473C>A (p.Arg825Ser)
c.2422C>A (p.Arg808Ser)
c.2455C>A (p.Arg819Ser)
c.2428C>A (p.Arg810Ser)
c.2404C>A (p.Arg802Ser)
 gnomAD v4
12g.8937276C=CA2015272722PHC1c.2578C= (p.Arg860=)
c.2443C= (p.Arg815=)
c.*1428C= (n.*1428C=)
c.284-2595C= (n.284-2595C=)
c.2554C= (p.Arg852=)
c.2629C= (p.Arg877=)
c.2605C= (p.Arg869=)
c.2479C= (p.Arg827=)
c.2473C= (p.Arg825=)
c.2422C= (p.Arg808=)
c.2455C= (p.Arg819=)
c.2428C= (p.Arg810=)
c.2404C= (p.Arg802=)
12g.8937276C>GCA383816079PHC1c.2578C>G (p.Arg860Gly)
c.2443C>G (p.Arg815Gly)
c.*1428C>G (n.*1428C>G)
c.284-2595C>G (n.284-2595C>G)
c.2554C>G (p.Arg852Gly)
c.2629C>G (p.Arg877Gly)
c.2605C>G (p.Arg869Gly)
c.2479C>G (p.Arg827Gly)
c.2473C>G (p.Arg825Gly)
c.2422C>G (p.Arg808Gly)
c.2455C>G (p.Arg819Gly)
c.2428C>G (p.Arg810Gly)
c.2404C>G (p.Arg802Gly)
12g.8937276C>TCA6437272PHC1c.2578C>T (p.Arg860Cys)
c.2443C>T (p.Arg815Cys)
c.*1428C>T (n.*1428C>T)
c.284-2595C>T (n.284-2595C>T)
c.2554C>T (p.Arg852Cys)
c.2629C>T (p.Arg877Cys)
c.2605C>T (p.Arg869Cys)
c.2479C>T (p.Arg827Cys)
c.2473C>T (p.Arg825Cys)
c.2422C>T (p.Arg808Cys)
c.2455C>T (p.Arg819Cys)
c.2428C>T (p.Arg810Cys)
c.2404C>T (p.Arg802Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.8937277G>ACA6437273PHC1c.2579G>A (p.Arg860His)
c.2444G>A (p.Arg815His)
c.*1429G>A (n.*1429G>A)
c.284-2594G>A (n.284-2594G>A)
c.2555G>A (p.Arg852His)
c.2630G>A (p.Arg877His)
c.2606G>A (p.Arg869His)
c.2480G>A (p.Arg827His)
c.2474G>A (p.Arg825His)
c.2423G>A (p.Arg808His)
c.2456G>A (p.Arg819His)
c.2429G>A (p.Arg810His)
c.2405G>A (p.Arg802His)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.8937277G>CCA383816080PHC1c.2579G>C (p.Arg860Pro)
c.2444G>C (p.Arg815Pro)
c.*1429G>C (n.*1429G>C)
c.284-2594G>C (n.284-2594G>C)
c.2555G>C (p.Arg852Pro)
c.2630G>C (p.Arg877Pro)
c.2606G>C (p.Arg869Pro)
c.2480G>C (p.Arg827Pro)
c.2474G>C (p.Arg825Pro)
c.2423G>C (p.Arg808Pro)
c.2456G>C (p.Arg819Pro)
c.2429G>C (p.Arg810Pro)
c.2405G>C (p.Arg802Pro)
12g.8937277G=CA2015272723PHC1c.2579G= (p.Arg860=)
c.2444G= (p.Arg815=)
c.*1429G= (n.*1429G=)
c.284-2594G= (n.284-2594G=)
c.2555G= (p.Arg852=)
c.2630G= (p.Arg877=)
c.2606G= (p.Arg869=)
c.2480G= (p.Arg827=)
c.2474G= (p.Arg825=)
c.2423G= (p.Arg808=)
c.2456G= (p.Arg819=)
c.2429G= (p.Arg810=)
c.2405G= (p.Arg802=)
12g.8937277G>TCA383816081PHC1c.2579G>T (p.Arg860Leu)
c.2444G>T (p.Arg815Leu)
c.*1429G>T (n.*1429G>T)
c.284-2594G>T (n.284-2594G>T)
c.2555G>T (p.Arg852Leu)
c.2630G>T (p.Arg877Leu)
c.2606G>T (p.Arg869Leu)
c.2480G>T (p.Arg827Leu)
c.2474G>T (p.Arg825Leu)
c.2423G>T (p.Arg808Leu)
c.2456G>T (p.Arg819Leu)
c.2429G>T (p.Arg810Leu)
c.2405G>T (p.Arg802Leu)
12g.8937278C>ACA478307889PHC1c.2580C>A (p.Arg860=)
c.2445C>A (p.Arg815=)
c.*1430C>A (n.*1430C>A)
c.284-2593C>A (n.284-2593C>A)
c.2556C>A (p.Arg852=)
c.2631C>A (p.Arg877=)
c.2607C>A (p.Arg869=)
c.2481C>A (p.Arg827=)
c.2475C>A (p.Arg825=)
c.2424C>A (p.Arg808=)
c.2457C>A (p.Arg819=)
c.2430C>A (p.Arg810=)
c.2406C>A (p.Arg802=)
12g.8937278C=CA2015272724PHC1c.2580C= (p.Arg860=)
c.2445C= (p.Arg815=)
c.*1430C= (n.*1430C=)
c.284-2593C= (n.284-2593C=)
c.2556C= (p.Arg852=)
c.2631C= (p.Arg877=)
c.2607C= (p.Arg869=)
c.2481C= (p.Arg827=)
c.2475C= (p.Arg825=)
c.2424C= (p.Arg808=)
c.2457C= (p.Arg819=)
c.2430C= (p.Arg810=)
c.2406C= (p.Arg802=)
12g.8937278C>GCA478307892PHC1c.2580C>G (p.Arg860=)
c.2445C>G (p.Arg815=)
c.*1430C>G (n.*1430C>G)
c.284-2593C>G (n.284-2593C>G)
c.2556C>G (p.Arg852=)
c.2631C>G (p.Arg877=)
c.2607C>G (p.Arg869=)
c.2481C>G (p.Arg827=)
c.2475C>G (p.Arg825=)
c.2424C>G (p.Arg808=)
c.2457C>G (p.Arg819=)
c.2430C>G (p.Arg810=)
c.2406C>G (p.Arg802=)
12g.8937278C>TCA6437274PHC1c.2580C>T (p.Arg860=)
c.2445C>T (p.Arg815=)
c.*1430C>T (n.*1430C>T)
c.284-2593C>T (n.284-2593C>T)
c.2556C>T (p.Arg852=)
c.2631C>T (p.Arg877=)
c.2607C>T (p.Arg869=)
c.2481C>T (p.Arg827=)
c.2475C>T (p.Arg825=)
c.2424C>T (p.Arg808=)
c.2457C>T (p.Arg819=)
c.2430C>T (p.Arg810=)
c.2406C>T (p.Arg802=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.8937279A>CCA383816082PHC1c.2581A>C (p.Ser861Arg)
c.2446A>C (p.Ser816Arg)
c.*1431A>C (n.*1431A>C)
c.284-2592A>C (n.284-2592A>C)
c.2557A>C (p.Ser853Arg)
c.2632A>C (p.Ser878Arg)
c.2608A>C (p.Ser870Arg)
c.2482A>C (p.Ser828Arg)
c.2476A>C (p.Ser826Arg)
c.2425A>C (p.Ser809Arg)
c.2458A>C (p.Ser820Arg)
c.2431A>C (p.Ser811Arg)
c.2407A>C (p.Ser803Arg)
12g.8937279A>GCA383816083PHC1c.2581A>G (p.Ser861Gly)
c.2446A>G (p.Ser816Gly)
c.*1431A>G (n.*1431A>G)
c.284-2592A>G (n.284-2592A>G)
c.2557A>G (p.Ser853Gly)
c.2632A>G (p.Ser878Gly)
c.2608A>G (p.Ser870Gly)
c.2482A>G (p.Ser828Gly)
c.2476A>G (p.Ser826Gly)
c.2425A>G (p.Ser809Gly)
c.2458A>G (p.Ser820Gly)
c.2431A>G (p.Ser811Gly)
c.2407A>G (p.Ser803Gly)
12g.8937279A>TCA383816084PHC1c.2581A>T (p.Ser861Cys)
c.2446A>T (p.Ser816Cys)
c.*1431A>T (n.*1431A>T)
c.284-2592A>T (n.284-2592A>T)
c.2557A>T (p.Ser853Cys)
c.2632A>T (p.Ser878Cys)
c.2608A>T (p.Ser870Cys)
c.2482A>T (p.Ser828Cys)
c.2476A>T (p.Ser826Cys)
c.2425A>T (p.Ser809Cys)
c.2458A>T (p.Ser820Cys)
c.2431A>T (p.Ser811Cys)
c.2407A>T (p.Ser803Cys)
12g.8937280G>ACA383816086PHC1c.2582G>A (p.Ser861Asn)
c.2447G>A (p.Ser816Asn)
c.*1432G>A (n.*1432G>A)
c.284-2591G>A (n.284-2591G>A)
c.2558G>A (p.Ser853Asn)
c.2633G>A (p.Ser878Asn)
c.2609G>A (p.Ser870Asn)
c.2483G>A (p.Ser828Asn)
c.2477G>A (p.Ser826Asn)
c.2426G>A (p.Ser809Asn)
c.2459G>A (p.Ser820Asn)
c.2432G>A (p.Ser811Asn)
c.2408G>A (p.Ser803Asn)
 gnomAD v4
12g.8937280G>CCA383816087PHC1c.2582G>C (p.Ser861Thr)
c.2447G>C (p.Ser816Thr)
c.*1432G>C (n.*1432G>C)
c.284-2591G>C (n.284-2591G>C)
c.2558G>C (p.Ser853Thr)
c.2633G>C (p.Ser878Thr)
c.2609G>C (p.Ser870Thr)
c.2483G>C (p.Ser828Thr)
c.2477G>C (p.Ser826Thr)
c.2426G>C (p.Ser809Thr)
c.2459G>C (p.Ser820Thr)
c.2432G>C (p.Ser811Thr)
c.2408G>C (p.Ser803Thr)
12g.8937280G>TCA383816085PHC1c.2582G>T (p.Ser861Ile)
c.2447G>T (p.Ser816Ile)
c.*1432G>T (n.*1432G>T)
c.284-2591G>T (n.284-2591G>T)
c.2558G>T (p.Ser853Ile)
c.2633G>T (p.Ser878Ile)
c.2609G>T (p.Ser870Ile)
c.2483G>T (p.Ser828Ile)
c.2477G>T (p.Ser826Ile)
c.2426G>T (p.Ser809Ile)
c.2459G>T (p.Ser820Ile)
c.2432G>T (p.Ser811Ile)
c.2408G>T (p.Ser803Ile)
12g.8937281C>ACA383816089PHC1c.2583C>A (p.Ser861Arg)
c.2448C>A (p.Ser816Arg)
c.*1433C>A (n.*1433C>A)
c.284-2590C>A (n.284-2590C>A)
c.2559C>A (p.Ser853Arg)
c.2634C>A (p.Ser878Arg)
c.2610C>A (p.Ser870Arg)
c.2484C>A (p.Ser828Arg)
c.2478C>A (p.Ser826Arg)
c.2427C>A (p.Ser809Arg)
c.2460C>A (p.Ser820Arg)
c.2433C>A (p.Ser811Arg)
c.2409C>A (p.Ser803Arg)
12g.8937281C>GCA383816088PHC1c.2583C>G (p.Ser861Arg)
c.2448C>G (p.Ser816Arg)
c.*1433C>G (n.*1433C>G)
c.284-2590C>G (n.284-2590C>G)
c.2559C>G (p.Ser853Arg)
c.2634C>G (p.Ser878Arg)
c.2610C>G (p.Ser870Arg)
c.2484C>G (p.Ser828Arg)
c.2478C>G (p.Ser826Arg)
c.2427C>G (p.Ser809Arg)
c.2460C>G (p.Ser820Arg)
c.2433C>G (p.Ser811Arg)
c.2409C>G (p.Ser803Arg)
 gnomAD v4
12g.8937281C>TCA478307929PHC1c.2583C>T (p.Ser861=)
c.2448C>T (p.Ser816=)
c.*1433C>T (n.*1433C>T)
c.284-2590C>T (n.284-2590C>T)
c.2559C>T (p.Ser853=)
c.2634C>T (p.Ser878=)
c.2610C>T (p.Ser870=)
c.2484C>T (p.Ser828=)
c.2478C>T (p.Ser826=)
c.2427C>T (p.Ser809=)
c.2460C>T (p.Ser820=)
c.2433C>T (p.Ser811=)
c.2409C>T (p.Ser803=)
12g.8937282T>ACA383816090PHC1c.2584T>A (p.Ser862Thr)
c.2449T>A (p.Ser817Thr)
c.*1434T>A (n.*1434T>A)
c.284-2589T>A (n.284-2589T>A)
c.2560T>A (p.Ser854Thr)
c.2635T>A (p.Ser879Thr)
c.2611T>A (p.Ser871Thr)
c.2485T>A (p.Ser829Thr)
c.2479T>A (p.Ser827Thr)
c.2428T>A (p.Ser810Thr)
c.2461T>A (p.Ser821Thr)
c.2434T>A (p.Ser812Thr)
c.2410T>A (p.Ser804Thr)
12g.8937282T>CCA383816091PHC1c.2584T>C (p.Ser862Pro)
c.2449T>C (p.Ser817Pro)
c.*1434T>C (n.*1434T>C)
c.284-2589T>C (n.284-2589T>C)
c.2560T>C (p.Ser854Pro)
c.2635T>C (p.Ser879Pro)
c.2611T>C (p.Ser871Pro)
c.2485T>C (p.Ser829Pro)
c.2479T>C (p.Ser827Pro)
c.2428T>C (p.Ser810Pro)
c.2461T>C (p.Ser821Pro)
c.2434T>C (p.Ser812Pro)
c.2410T>C (p.Ser804Pro)
12g.8937282T>GCA383816092PHC1c.2584T>G (p.Ser862Ala)
c.2449T>G (p.Ser817Ala)
c.*1434T>G (n.*1434T>G)
c.284-2589T>G (n.284-2589T>G)
c.2560T>G (p.Ser854Ala)
c.2635T>G (p.Ser879Ala)
c.2611T>G (p.Ser871Ala)
c.2485T>G (p.Ser829Ala)
c.2479T>G (p.Ser827Ala)
c.2428T>G (p.Ser810Ala)
c.2461T>G (p.Ser821Ala)
c.2434T>G (p.Ser812Ala)
c.2410T>G (p.Ser804Ala)
12g.8937283C>ACA383816093PHC1c.2585C>A (p.Ser862Tyr)
c.2450C>A (p.Ser817Tyr)
c.*1435C>A (n.*1435C>A)
c.284-2588C>A (n.284-2588C>A)
c.2561C>A (p.Ser854Tyr)
c.2636C>A (p.Ser879Tyr)
c.2612C>A (p.Ser871Tyr)
c.2486C>A (p.Ser829Tyr)
c.2480C>A (p.Ser827Tyr)
c.2429C>A (p.Ser810Tyr)
c.2462C>A (p.Ser821Tyr)
c.2435C>A (p.Ser812Tyr)
c.2411C>A (p.Ser804Tyr)
12g.8937283C=CA2015272725PHC1c.2585C= (p.Ser862=)
c.2450C= (p.Ser817=)
c.*1435C= (n.*1435C=)
c.284-2588C= (n.284-2588C=)
c.2561C= (p.Ser854=)
c.2636C= (p.Ser879=)
c.2612C= (p.Ser871=)
c.2486C= (p.Ser829=)
c.2480C= (p.Ser827=)
c.2429C= (p.Ser810=)
c.2462C= (p.Ser821=)
c.2435C= (p.Ser812=)
c.2411C= (p.Ser804=)
12g.8937283C>GCA383816094PHC1c.2585C>G (p.Ser862Cys)
c.2450C>G (p.Ser817Cys)
c.*1435C>G (n.*1435C>G)
c.284-2588C>G (n.284-2588C>G)
c.2561C>G (p.Ser854Cys)
c.2636C>G (p.Ser879Cys)
c.2612C>G (p.Ser871Cys)
c.2486C>G (p.Ser829Cys)
c.2480C>G (p.Ser827Cys)
c.2429C>G (p.Ser810Cys)
c.2462C>G (p.Ser821Cys)
c.2435C>G (p.Ser812Cys)
c.2411C>G (p.Ser804Cys)
12g.8937283C>TCA383816095PHC1c.2585C>T (p.Ser862Phe)
c.2450C>T (p.Ser817Phe)
c.*1435C>T (n.*1435C>T)
c.284-2588C>T (n.284-2588C>T)
c.2561C>T (p.Ser854Phe)
c.2636C>T (p.Ser879Phe)
c.2612C>T (p.Ser871Phe)
c.2486C>T (p.Ser829Phe)
c.2480C>T (p.Ser827Phe)
c.2429C>T (p.Ser810Phe)
c.2462C>T (p.Ser821Phe)
c.2435C>T (p.Ser812Phe)
c.2411C>T (p.Ser804Phe)
 dbSNP gnomAD v2 gnomAD v4
12g.8937284C>ACA478307962PHC1c.2586C>A (p.Ser862=)
c.2451C>A (p.Ser817=)
c.*1436C>A (n.*1436C>A)
c.284-2587C>A (n.284-2587C>A)
c.2562C>A (p.Ser854=)
c.2637C>A (p.Ser879=)
c.2613C>A (p.Ser871=)
c.2487C>A (p.Ser829=)
c.2481C>A (p.Ser827=)
c.2430C>A (p.Ser810=)
c.2463C>A (p.Ser821=)
c.2436C>A (p.Ser812=)
c.2412C>A (p.Ser804=)
12g.8937284C>GCA478307965PHC1c.2586C>G (p.Ser862=)
c.2451C>G (p.Ser817=)
c.*1436C>G (n.*1436C>G)
c.284-2587C>G (n.284-2587C>G)
c.2562C>G (p.Ser854=)
c.2637C>G (p.Ser879=)
c.2613C>G (p.Ser871=)
c.2487C>G (p.Ser829=)
c.2481C>G (p.Ser827=)
c.2430C>G (p.Ser810=)
c.2463C>G (p.Ser821=)
c.2436C>G (p.Ser812=)
c.2412C>G (p.Ser804=)
12g.8937284C>TCA478307969PHC1c.2586C>T (p.Ser862=)
c.2451C>T (p.Ser817=)
c.*1436C>T (n.*1436C>T)
c.284-2587C>T (n.284-2587C>T)
c.2562C>T (p.Ser854=)
c.2637C>T (p.Ser879=)
c.2613C>T (p.Ser871=)
c.2487C>T (p.Ser829=)
c.2481C>T (p.Ser827=)
c.2430C>T (p.Ser810=)
c.2463C>T (p.Ser821=)
c.2436C>T (p.Ser812=)
c.2412C>T (p.Ser804=)
 gnomAD v4
12g.8937285T>ACA383816096PHC1c.2587T>A (p.Ser863Thr)
c.2452T>A (p.Ser818Thr)
c.*1437T>A (n.*1437T>A)
c.284-2586T>A (n.284-2586T>A)
c.2563T>A (p.Ser855Thr)
c.2638T>A (p.Ser880Thr)
c.2614T>A (p.Ser872Thr)
c.2488T>A (p.Ser830Thr)
c.2482T>A (p.Ser828Thr)
c.2431T>A (p.Ser811Thr)
c.2464T>A (p.Ser822Thr)
c.2437T>A (p.Ser813Thr)
c.2413T>A (p.Ser805Thr)
12g.8937285T>CCA383816097PHC1c.2587T>C (p.Ser863Pro)
c.2452T>C (p.Ser818Pro)
c.*1437T>C (n.*1437T>C)
c.284-2586T>C (n.284-2586T>C)
c.2563T>C (p.Ser855Pro)
c.2638T>C (p.Ser880Pro)
c.2614T>C (p.Ser872Pro)
c.2488T>C (p.Ser830Pro)
c.2482T>C (p.Ser828Pro)
c.2431T>C (p.Ser811Pro)
c.2464T>C (p.Ser822Pro)
c.2437T>C (p.Ser813Pro)
c.2413T>C (p.Ser805Pro)
12g.8937285T>GCA383816098PHC1c.2587T>G (p.Ser863Ala)
c.2452T>G (p.Ser818Ala)
c.*1437T>G (n.*1437T>G)
c.284-2586T>G (n.284-2586T>G)
c.2563T>G (p.Ser855Ala)
c.2638T>G (p.Ser880Ala)
c.2614T>G (p.Ser872Ala)
c.2488T>G (p.Ser830Ala)
c.2482T>G (p.Ser828Ala)
c.2431T>G (p.Ser811Ala)
c.2464T>G (p.Ser822Ala)
c.2437T>G (p.Ser813Ala)
c.2413T>G (p.Ser805Ala)
12g.8937286C>ACA383816099PHC1c.2588C>A (p.Ser863Tyr)
c.2453C>A (p.Ser818Tyr)
c.*1438C>A (n.*1438C>A)
c.284-2585C>A (n.284-2585C>A)
c.2564C>A (p.Ser855Tyr)
c.2639C>A (p.Ser880Tyr)
c.2615C>A (p.Ser872Tyr)
c.2489C>A (p.Ser830Tyr)
c.2483C>A (p.Ser828Tyr)
c.2432C>A (p.Ser811Tyr)
c.2465C>A (p.Ser822Tyr)
c.2438C>A (p.Ser813Tyr)
c.2414C>A (p.Ser805Tyr)
12g.8937286C>GCA383816100PHC1c.2588C>G (p.Ser863Cys)
c.2453C>G (p.Ser818Cys)
c.*1438C>G (n.*1438C>G)
c.284-2585C>G (n.284-2585C>G)
c.2564C>G (p.Ser855Cys)
c.2639C>G (p.Ser880Cys)
c.2615C>G (p.Ser872Cys)
c.2489C>G (p.Ser830Cys)
c.2483C>G (p.Ser828Cys)
c.2432C>G (p.Ser811Cys)
c.2465C>G (p.Ser822Cys)
c.2438C>G (p.Ser813Cys)
c.2414C>G (p.Ser805Cys)
 gnomAD v4
12g.8937286C>TCA383816101PHC1c.2588C>T (p.Ser863Phe)
c.2453C>T (p.Ser818Phe)
c.*1438C>T (n.*1438C>T)
c.284-2585C>T (n.284-2585C>T)
c.2564C>T (p.Ser855Phe)
c.2639C>T (p.Ser880Phe)
c.2615C>T (p.Ser872Phe)
c.2489C>T (p.Ser830Phe)
c.2483C>T (p.Ser828Phe)
c.2432C>T (p.Ser811Phe)
c.2465C>T (p.Ser822Phe)
c.2438C>T (p.Ser813Phe)
c.2414C>T (p.Ser805Phe)
12g.8937287T>ACA478307981PHC1c.2589T>A (p.Ser863=)
c.2454T>A (p.Ser818=)
c.*1439T>A (n.*1439T>A)
c.284-2584T>A (n.284-2584T>A)
c.2565T>A (p.Ser855=)
c.2640T>A (p.Ser880=)
c.2616T>A (p.Ser872=)
c.2490T>A (p.Ser830=)
c.2484T>A (p.Ser828=)
c.2433T>A (p.Ser811=)
c.2466T>A (p.Ser822=)
c.2439T>A (p.Ser813=)
c.2415T>A (p.Ser805=)
12g.8937287T>CCA478307983PHC1c.2589T>C (p.Ser863=)
c.2454T>C (p.Ser818=)
c.*1439T>C (n.*1439T>C)
c.284-2584T>C (n.284-2584T>C)
c.2565T>C (p.Ser855=)
c.2640T>C (p.Ser880=)
c.2616T>C (p.Ser872=)
c.2490T>C (p.Ser830=)
c.2484T>C (p.Ser828=)
c.2433T>C (p.Ser811=)
c.2466T>C (p.Ser822=)
c.2439T>C (p.Ser813=)
c.2415T>C (p.Ser805=)
12g.8937287T>GCA478307982PHC1c.2589T>G (p.Ser863=)
c.2454T>G (p.Ser818=)
c.*1439T>G (n.*1439T>G)
c.284-2584T>G (n.284-2584T>G)
c.2565T>G (p.Ser855=)
c.2640T>G (p.Ser880=)
c.2616T>G (p.Ser872=)
c.2490T>G (p.Ser830=)
c.2484T>G (p.Ser828=)
c.2433T>G (p.Ser811=)
c.2466T>G (p.Ser822=)
c.2439T>G (p.Ser813=)
c.2415T>G (p.Ser805=)
 gnomAD v4
12g.8937288G>ACA383816103PHC1c.2590G>A (p.Asp864Asn)
c.2455G>A (p.Asp819Asn)
c.*1440G>A (n.*1440G>A)
c.284-2583G>A (n.284-2583G>A)
c.2566G>A (p.Asp856Asn)
c.2641G>A (p.Asp881Asn)
c.2617G>A (p.Asp873Asn)
c.2491G>A (p.Asp831Asn)
c.2485G>A (p.Asp829Asn)
c.2434G>A (p.Asp812Asn)
c.2467G>A (p.Asp823Asn)
c.2440G>A (p.Asp814Asn)
c.2416G>A (p.Asp806Asn)
12g.8937288G>CCA6437275PHC1c.2590G>C (p.Asp864His)
c.2455G>C (p.Asp819His)
c.*1440G>C (n.*1440G>C)
c.284-2583G>C (n.284-2583G>C)
c.2566G>C (p.Asp856His)
c.2641G>C (p.Asp881His)
c.2617G>C (p.Asp873His)
c.2491G>C (p.Asp831His)
c.2485G>C (p.Asp829His)
c.2434G>C (p.Asp812His)
c.2467G>C (p.Asp823His)
c.2440G>C (p.Asp814His)
c.2416G>C (p.Asp806His)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.8937288G=CA2015272726PHC1c.2590G= (p.Asp864=)
c.2455G= (p.Asp819=)
c.*1440G= (n.*1440G=)
c.284-2583G= (n.284-2583G=)
c.2566G= (p.Asp856=)
c.2641G= (p.Asp881=)
c.2617G= (p.Asp873=)
c.2491G= (p.Asp831=)
c.2485G= (p.Asp829=)
c.2434G= (p.Asp812=)
c.2467G= (p.Asp823=)
c.2440G= (p.Asp814=)
c.2416G= (p.Asp806=)
12g.8937288G>TCA383816102PHC1c.2590G>T (p.Asp864Tyr)
c.2455G>T (p.Asp819Tyr)
c.*1440G>T (n.*1440G>T)
c.284-2583G>T (n.284-2583G>T)
c.2566G>T (p.Asp856Tyr)
c.2641G>T (p.Asp881Tyr)
c.2617G>T (p.Asp873Tyr)
c.2491G>T (p.Asp831Tyr)
c.2485G>T (p.Asp829Tyr)
c.2434G>T (p.Asp812Tyr)
c.2467G>T (p.Asp823Tyr)
c.2440G>T (p.Asp814Tyr)
c.2416G>T (p.Asp806Tyr)
 gnomAD v4
12g.8937289A>CCA383816104PHC1c.2591A>C (p.Asp864Ala)
c.2456A>C (p.Asp819Ala)
c.*1441A>C (n.*1441A>C)
c.284-2582A>C (n.284-2582A>C)
c.2567A>C (p.Asp856Ala)
c.2642A>C (p.Asp881Ala)
c.2618A>C (p.Asp873Ala)
c.2492A>C (p.Asp831Ala)
c.2486A>C (p.Asp829Ala)
c.2435A>C (p.Asp812Ala)
c.2468A>C (p.Asp823Ala)
c.2441A>C (p.Asp814Ala)
c.2417A>C (p.Asp806Ala)
12g.8937289A>GCA383816105PHC1c.2591A>G (p.Asp864Gly)
c.2456A>G (p.Asp819Gly)
c.*1441A>G (n.*1441A>G)
c.284-2582A>G (n.284-2582A>G)
c.2567A>G (p.Asp856Gly)
c.2642A>G (p.Asp881Gly)
c.2618A>G (p.Asp873Gly)
c.2492A>G (p.Asp831Gly)
c.2486A>G (p.Asp829Gly)
c.2435A>G (p.Asp812Gly)
c.2468A>G (p.Asp823Gly)
c.2441A>G (p.Asp814Gly)
c.2417A>G (p.Asp806Gly)
12g.8937289A>TCA383816106PHC1c.2591A>T (p.Asp864Val)
c.2456A>T (p.Asp819Val)
c.*1441A>T (n.*1441A>T)
c.284-2582A>T (n.284-2582A>T)
c.2567A>T (p.Asp856Val)
c.2642A>T (p.Asp881Val)
c.2618A>T (p.Asp873Val)
c.2492A>T (p.Asp831Val)
c.2486A>T (p.Asp829Val)
c.2435A>T (p.Asp812Val)
c.2468A>T (p.Asp823Val)
c.2441A>T (p.Asp814Val)
c.2417A>T (p.Asp806Val)
12g.8937290C>ACA383816108PHC1c.2592C>A (p.Asp864Glu)
c.2457C>A (p.Asp819Glu)
c.*1442C>A (n.*1442C>A)
c.284-2581C>A (n.284-2581C>A)
c.2568C>A (p.Asp856Glu)
c.2643C>A (p.Asp881Glu)
c.2619C>A (p.Asp873Glu)
c.2493C>A (p.Asp831Glu)
c.2487C>A (p.Asp829Glu)
c.2436C>A (p.Asp812Glu)
c.2469C>A (p.Asp823Glu)
c.2442C>A (p.Asp814Glu)
c.2418C>A (p.Asp806Glu)
12g.8937290C>GCA383816110PHC1c.2592C>G (p.Asp864Glu)
c.2457C>G (p.Asp819Glu)
c.*1442C>G (n.*1442C>G)
c.284-2581C>G (n.284-2581C>G)
c.2568C>G (p.Asp856Glu)
c.2643C>G (p.Asp881Glu)
c.2619C>G (p.Asp873Glu)
c.2493C>G (p.Asp831Glu)
c.2487C>G (p.Asp829Glu)
c.2436C>G (p.Asp812Glu)
c.2469C>G (p.Asp823Glu)
c.2442C>G (p.Asp814Glu)
c.2418C>G (p.Asp806Glu)
12g.8937290C>TCA478308008PHC1c.2592C>T (p.Asp864=)
c.2457C>T (p.Asp819=)
c.*1442C>T (n.*1442C>T)
c.284-2581C>T (n.284-2581C>T)
c.2568C>T (p.Asp856=)
c.2643C>T (p.Asp881=)
c.2619C>T (p.Asp873=)
c.2493C>T (p.Asp831=)
c.2487C>T (p.Asp829=)
c.2436C>T (p.Asp812=)
c.2469C>T (p.Asp823=)
c.2442C>T (p.Asp814=)
c.2418C>T (p.Asp806=)
 gnomAD v4
12g.8937291A=CA2015272727PHC1c.2593A= (p.Ile865=)
c.2458A= (p.Ile820=)
c.*1443A= (n.*1443A=)
c.284-2580A= (n.284-2580A=)
c.2569A= (p.Ile857=)
c.2644A= (p.Ile882=)
c.2620A= (p.Ile874=)
c.2494A= (p.Ile832=)
c.2488A= (p.Ile830=)
c.2437A= (p.Ile813=)
c.2470A= (p.Ile824=)
c.2443A= (p.Ile815=)
c.2419A= (p.Ile807=)
12g.8937291A>CCA383816111PHC1c.2593A>C (p.Ile865Leu)
c.2458A>C (p.Ile820Leu)
c.*1443A>C (n.*1443A>C)
c.284-2580A>C (n.284-2580A>C)
c.2569A>C (p.Ile857Leu)
c.2644A>C (p.Ile882Leu)
c.2620A>C (p.Ile874Leu)
c.2494A>C (p.Ile832Leu)
c.2488A>C (p.Ile830Leu)
c.2437A>C (p.Ile813Leu)
c.2470A>C (p.Ile824Leu)
c.2443A>C (p.Ile815Leu)
c.2419A>C (p.Ile807Leu)
12g.8937291A>GCA383816112PHC1c.2593A>G (p.Ile865Val)
c.2458A>G (p.Ile820Val)
c.*1443A>G (n.*1443A>G)
c.284-2580A>G (n.284-2580A>G)
c.2569A>G (p.Ile857Val)
c.2644A>G (p.Ile882Val)
c.2620A>G (p.Ile874Val)
c.2494A>G (p.Ile832Val)
c.2488A>G (p.Ile830Val)
c.2437A>G (p.Ile813Val)
c.2470A>G (p.Ile824Val)
c.2443A>G (p.Ile815Val)
c.2419A>G (p.Ile807Val)
 dbSNP gnomAD v2 gnomAD v4
12g.8937291A>TCA383816113PHC1c.2593A>T (p.Ile865Phe)
c.2458A>T (p.Ile820Phe)
c.*1443A>T (n.*1443A>T)
c.284-2580A>T (n.284-2580A>T)
c.2569A>T (p.Ile857Phe)
c.2644A>T (p.Ile882Phe)
c.2620A>T (p.Ile874Phe)
c.2494A>T (p.Ile832Phe)
c.2488A>T (p.Ile830Phe)
c.2437A>T (p.Ile813Phe)
c.2470A>T (p.Ile824Phe)
c.2443A>T (p.Ile815Phe)
c.2419A>T (p.Ile807Phe)
12g.8937292T>ACA383816114PHC1c.2594T>A (p.Ile865Asn)
c.2459T>A (p.Ile820Asn)
c.*1444T>A (n.*1444T>A)
c.284-2579T>A (n.284-2579T>A)
c.2570T>A (p.Ile857Asn)
c.2645T>A (p.Ile882Asn)
c.2621T>A (p.Ile874Asn)
c.2495T>A (p.Ile832Asn)
c.2489T>A (p.Ile830Asn)
c.2438T>A (p.Ile813Asn)
c.2471T>A (p.Ile824Asn)
c.2444T>A (p.Ile815Asn)
c.2420T>A (p.Ile807Asn)
12g.8937292T>CCA383816115PHC1c.2594T>C (p.Ile865Thr)
c.2459T>C (p.Ile820Thr)
c.*1444T>C (n.*1444T>C)
c.284-2579T>C (n.284-2579T>C)
c.2570T>C (p.Ile857Thr)
c.2645T>C (p.Ile882Thr)
c.2621T>C (p.Ile874Thr)
c.2495T>C (p.Ile832Thr)
c.2489T>C (p.Ile830Thr)
c.2438T>C (p.Ile813Thr)
c.2471T>C (p.Ile824Thr)
c.2444T>C (p.Ile815Thr)
c.2420T>C (p.Ile807Thr)
12g.8937292T>GCA383816116PHC1c.2594T>G (p.Ile865Ser)
c.2459T>G (p.Ile820Ser)
c.*1444T>G (n.*1444T>G)
c.284-2579T>G (n.284-2579T>G)
c.2570T>G (p.Ile857Ser)
c.2645T>G (p.Ile882Ser)
c.2621T>G (p.Ile874Ser)
c.2495T>G (p.Ile832Ser)
c.2489T>G (p.Ile830Ser)
c.2438T>G (p.Ile813Ser)
c.2471T>G (p.Ile824Ser)
c.2444T>G (p.Ile815Ser)
c.2420T>G (p.Ile807Ser)
 gnomAD v4
12g.8937293T>ACA478308026PHC1c.2595T>A (p.Ile865=)
c.2460T>A (p.Ile820=)
c.*1445T>A (n.*1445T>A)
c.284-2578T>A (n.284-2578T>A)
c.2571T>A (p.Ile857=)
c.2646T>A (p.Ile882=)
c.2622T>A (p.Ile874=)
c.2496T>A (p.Ile832=)
c.2490T>A (p.Ile830=)
c.2439T>A (p.Ile813=)
c.2472T>A (p.Ile824=)
c.2445T>A (p.Ile815=)
c.2421T>A (p.Ile807=)
12g.8937293T>CCA478308031PHC1c.2595T>C (p.Ile865=)
c.2460T>C (p.Ile820=)
c.*1445T>C (n.*1445T>C)
c.284-2578T>C (n.284-2578T>C)
c.2571T>C (p.Ile857=)
c.2646T>C (p.Ile882=)
c.2622T>C (p.Ile874=)
c.2496T>C (p.Ile832=)
c.2490T>C (p.Ile830=)
c.2439T>C (p.Ile813=)
c.2472T>C (p.Ile824=)
c.2445T>C (p.Ile815=)
c.2421T>C (p.Ile807=)
12g.8937293T>GCA383816117PHC1c.2595T>G (p.Ile865Met)
c.2460T>G (p.Ile820Met)
c.*1445T>G (n.*1445T>G)
c.284-2578T>G (n.284-2578T>G)
c.2571T>G (p.Ile857Met)
c.2646T>G (p.Ile882Met)
c.2622T>G (p.Ile874Met)
c.2496T>G (p.Ile832Met)
c.2490T>G (p.Ile830Met)
c.2439T>G (p.Ile813Met)
c.2472T>G (p.Ile824Met)
c.2445T>G (p.Ile815Met)
c.2421T>G (p.Ile807Met)
12g.8937294G>ACA383816120PHC1c.2596G>A (p.Ala866Thr)
c.2461G>A (p.Ala821Thr)
c.*1446G>A (n.*1446G>A)
c.284-2577G>A (n.284-2577G>A)
c.2572G>A (p.Ala858Thr)
c.2647G>A (p.Ala883Thr)
c.2623G>A (p.Ala875Thr)
c.2497G>A (p.Ala833Thr)
c.2491G>A (p.Ala831Thr)
c.2440G>A (p.Ala814Thr)
c.2473G>A (p.Ala825Thr)
c.2446G>A (p.Ala816Thr)
c.2422G>A (p.Ala808Thr)
12g.8937294G>CCA383816119PHC1c.2596G>C (p.Ala866Pro)
c.2461G>C (p.Ala821Pro)
c.*1446G>C (n.*1446G>C)
c.284-2577G>C (n.284-2577G>C)
c.2572G>C (p.Ala858Pro)
c.2647G>C (p.Ala883Pro)
c.2623G>C (p.Ala875Pro)
c.2497G>C (p.Ala833Pro)
c.2491G>C (p.Ala831Pro)
c.2440G>C (p.Ala814Pro)
c.2473G>C (p.Ala825Pro)
c.2446G>C (p.Ala816Pro)
c.2422G>C (p.Ala808Pro)
12g.8937294G>TCA383816118PHC1c.2596G>T (p.Ala866Ser)
c.2461G>T (p.Ala821Ser)
c.*1446G>T (n.*1446G>T)
c.284-2577G>T (n.284-2577G>T)
c.2572G>T (p.Ala858Ser)
c.2647G>T (p.Ala883Ser)
c.2623G>T (p.Ala875Ser)
c.2497G>T (p.Ala833Ser)
c.2491G>T (p.Ala831Ser)
c.2440G>T (p.Ala814Ser)
c.2473G>T (p.Ala825Ser)
c.2446G>T (p.Ala816Ser)
c.2422G>T (p.Ala808Ser)
 gnomAD v4
12g.8937295C>ACA383816123PHC1c.2597C>A (p.Ala866Asp)
c.2462C>A (p.Ala821Asp)
c.*1447C>A (n.*1447C>A)
c.284-2576C>A (n.284-2576C>A)
c.2573C>A (p.Ala858Asp)
c.2648C>A (p.Ala883Asp)
c.2624C>A (p.Ala875Asp)
c.2498C>A (p.Ala833Asp)
c.2492C>A (p.Ala831Asp)
c.2441C>A (p.Ala814Asp)
c.2474C>A (p.Ala825Asp)
c.2447C>A (p.Ala816Asp)
c.2423C>A (p.Ala808Asp)
 gnomAD v4
12g.8937295C>GCA383816121PHC1c.2597C>G (p.Ala866Gly)
c.2462C>G (p.Ala821Gly)
c.*1447C>G (n.*1447C>G)
c.284-2576C>G (n.284-2576C>G)
c.2573C>G (p.Ala858Gly)
c.2648C>G (p.Ala883Gly)
c.2624C>G (p.Ala875Gly)
c.2498C>G (p.Ala833Gly)
c.2492C>G (p.Ala831Gly)
c.2441C>G (p.Ala814Gly)
c.2474C>G (p.Ala825Gly)
c.2447C>G (p.Ala816Gly)
c.2423C>G (p.Ala808Gly)
12g.8937295C>TCA383816122PHC1c.2597C>T (p.Ala866Val)
c.2462C>T (p.Ala821Val)
c.*1447C>T (n.*1447C>T)
c.284-2576C>T (n.284-2576C>T)
c.2573C>T (p.Ala858Val)
c.2648C>T (p.Ala883Val)
c.2624C>T (p.Ala875Val)
c.2498C>T (p.Ala833Val)
c.2492C>T (p.Ala831Val)
c.2441C>T (p.Ala814Val)
c.2474C>T (p.Ala825Val)
c.2447C>T (p.Ala816Val)
c.2423C>T (p.Ala808Val)
 gnomAD v4
12g.8937295_8937297delCA2617520937PHC1c.2597_2599del (p.Ala866_Arg867delinsGly)
c.2462_2464del (p.Ala821_Arg822delinsGly)
c.*1447_*1449del (n.*1447_*1449del)
c.284-2576_284-2574del (n.284-2576_284-2574del)
c.2573_2575del (p.Ala858_Arg859delinsGly)
c.2648_2650del (p.Ala883_Arg884delinsGly)
c.2624_2626del (p.Ala875_Arg876delinsGly)
c.2498_2500del (p.Ala833_Arg834delinsGly)
c.2492_2494del (p.Ala831_Arg832delinsGly)
c.2441_2443del (p.Ala814_Arg815delinsGly)
c.2474_2476del (p.Ala825_Arg826delinsGly)
c.2447_2449del (p.Ala816_Arg817delinsGly)
c.2423_2425del (p.Ala808_Arg809delinsGly)
 gnomAD v4
12g.8937296C>ACA478308048PHC1c.2598C>A (p.Ala866=)
c.2463C>A (p.Ala821=)
c.*1448C>A (n.*1448C>A)
c.284-2575C>A (n.284-2575C>A)
c.2574C>A (p.Ala858=)
c.2649C>A (p.Ala883=)
c.2625C>A (p.Ala875=)
c.2499C>A (p.Ala833=)
c.2493C>A (p.Ala831=)
c.2442C>A (p.Ala814=)
c.2475C>A (p.Ala825=)
c.2448C>A (p.Ala816=)
c.2424C>A (p.Ala808=)
 gnomAD v4
12g.8937296C>GCA478308051PHC1c.2598C>G (p.Ala866=)
c.2463C>G (p.Ala821=)
c.*1448C>G (n.*1448C>G)
c.284-2575C>G (n.284-2575C>G)
c.2574C>G (p.Ala858=)
c.2649C>G (p.Ala883=)
c.2625C>G (p.Ala875=)
c.2499C>G (p.Ala833=)
c.2493C>G (p.Ala831=)
c.2442C>G (p.Ala814=)
c.2475C>G (p.Ala825=)
c.2448C>G (p.Ala816=)
c.2424C>G (p.Ala808=)
 gnomAD v4
12g.8937296C>TCA478308053PHC1c.2598C>T (p.Ala866=)
c.2463C>T (p.Ala821=)
c.*1448C>T (n.*1448C>T)
c.284-2575C>T (n.284-2575C>T)
c.2574C>T (p.Ala858=)
c.2649C>T (p.Ala883=)
c.2625C>T (p.Ala875=)
c.2499C>T (p.Ala833=)
c.2493C>T (p.Ala831=)
c.2442C>T (p.Ala814=)
c.2475C>T (p.Ala825=)
c.2448C>T (p.Ala816=)
c.2424C>T (p.Ala808=)
12g.8937297C>ACA383816124PHC1c.2599C>A (p.Arg867Ser)
c.2464C>A (p.Arg822Ser)
c.*1449C>A (n.*1449C>A)
c.284-2574C>A (n.284-2574C>A)
c.2575C>A (p.Arg859Ser)
c.2650C>A (p.Arg884Ser)
c.2626C>A (p.Arg876Ser)
c.2500C>A (p.Arg834Ser)
c.2494C>A (p.Arg832Ser)
c.2443C>A (p.Arg815Ser)
c.2476C>A (p.Arg826Ser)
c.2449C>A (p.Arg817Ser)
c.2425C>A (p.Arg809Ser)
 gnomAD v4
12g.8937297C=CA2015272728PHC1c.2599C= (p.Arg867=)
c.2464C= (p.Arg822=)
c.*1449C= (n.*1449C=)
c.284-2574C= (n.284-2574C=)
c.2575C= (p.Arg859=)
c.2650C= (p.Arg884=)
c.2626C= (p.Arg876=)
c.2500C= (p.Arg834=)
c.2494C= (p.Arg832=)
c.2443C= (p.Arg815=)
c.2476C= (p.Arg826=)
c.2449C= (p.Arg817=)
c.2425C= (p.Arg809=)
12g.8937297C>GCA383816125PHC1c.2599C>G (p.Arg867Gly)
c.2464C>G (p.Arg822Gly)
c.*1449C>G (n.*1449C>G)
c.284-2574C>G (n.284-2574C>G)
c.2575C>G (p.Arg859Gly)
c.2650C>G (p.Arg884Gly)
c.2626C>G (p.Arg876Gly)
c.2500C>G (p.Arg834Gly)
c.2494C>G (p.Arg832Gly)
c.2443C>G (p.Arg815Gly)
c.2476C>G (p.Arg826Gly)
c.2449C>G (p.Arg817Gly)
c.2425C>G (p.Arg809Gly)
 dbSNP gnomAD v2 gnomAD v4
12g.8937297C>TCA6437276PHC1c.2599C>T (p.Arg867Cys)
c.2464C>T (p.Arg822Cys)
c.*1449C>T (n.*1449C>T)
c.284-2574C>T (n.284-2574C>T)
c.2575C>T (p.Arg859Cys)
c.2650C>T (p.Arg884Cys)
c.2626C>T (p.Arg876Cys)
c.2500C>T (p.Arg834Cys)
c.2494C>T (p.Arg832Cys)
c.2443C>T (p.Arg815Cys)
c.2476C>T (p.Arg826Cys)
c.2449C>T (p.Arg817Cys)
c.2425C>T (p.Arg809Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.8937298G>ACA6437277PHC1c.2600G>A (p.Arg867His)
c.2465G>A (p.Arg822His)
c.*1450G>A (n.*1450G>A)
c.284-2573G>A (n.284-2573G>A)
c.2576G>A (p.Arg859His)
c.2651G>A (p.Arg884His)
c.2627G>A (p.Arg876His)
c.2501G>A (p.Arg834His)
c.2495G>A (p.Arg832His)
c.2444G>A (p.Arg815His)
c.2477G>A (p.Arg826His)
c.2450G>A (p.Arg817His)
c.2426G>A (p.Arg809His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.8937298G>CCA383816127PHC1c.2600G>C (p.Arg867Pro)
c.2465G>C (p.Arg822Pro)
c.*1450G>C (n.*1450G>C)
c.284-2573G>C (n.284-2573G>C)
c.2576G>C (p.Arg859Pro)
c.2651G>C (p.Arg884Pro)
c.2627G>C (p.Arg876Pro)
c.2501G>C (p.Arg834Pro)
c.2495G>C (p.Arg832Pro)
c.2444G>C (p.Arg815Pro)
c.2477G>C (p.Arg826Pro)
c.2450G>C (p.Arg817Pro)
c.2426G>C (p.Arg809Pro)
12g.8937298G=CA2015272729PHC1c.2600G= (p.Arg867=)
c.2465G= (p.Arg822=)
c.*1450G= (n.*1450G=)
c.284-2573G= (n.284-2573G=)
c.2576G= (p.Arg859=)
c.2651G= (p.Arg884=)
c.2627G= (p.Arg876=)
c.2501G= (p.Arg834=)
c.2495G= (p.Arg832=)
c.2444G= (p.Arg815=)
c.2477G= (p.Arg826=)
c.2450G= (p.Arg817=)
c.2426G= (p.Arg809=)
12g.8937298G>TCA383816126PHC1c.2600G>T (p.Arg867Leu)
c.2465G>T (p.Arg822Leu)
c.*1450G>T (n.*1450G>T)
c.284-2573G>T (n.284-2573G>T)
c.2576G>T (p.Arg859Leu)
c.2651G>T (p.Arg884Leu)
c.2627G>T (p.Arg876Leu)
c.2501G>T (p.Arg834Leu)
c.2495G>T (p.Arg832Leu)
c.2444G>T (p.Arg815Leu)
c.2477G>T (p.Arg826Leu)
c.2450G>T (p.Arg817Leu)
c.2426G>T (p.Arg809Leu)
12g.8937299T>ACA478308074PHC1c.2601T>A (p.Arg867=)
c.2466T>A (p.Arg822=)
c.*1451T>A (n.*1451T>A)
c.284-2572T>A (n.284-2572T>A)
c.2577T>A (p.Arg859=)
c.2652T>A (p.Arg884=)
c.2628T>A (p.Arg876=)
c.2502T>A (p.Arg834=)
c.2496T>A (p.Arg832=)
c.2445T>A (p.Arg815=)
c.2478T>A (p.Arg826=)
c.2451T>A (p.Arg817=)
c.2427T>A (p.Arg809=)
12g.8937299T>CCA478308077PHC1c.2601T>C (p.Arg867=)
c.2466T>C (p.Arg822=)
c.*1451T>C (n.*1451T>C)
c.284-2572T>C (n.284-2572T>C)
c.2577T>C (p.Arg859=)
c.2652T>C (p.Arg884=)
c.2628T>C (p.Arg876=)
c.2502T>C (p.Arg834=)
c.2496T>C (p.Arg832=)
c.2445T>C (p.Arg815=)
c.2478T>C (p.Arg826=)
c.2451T>C (p.Arg817=)
c.2427T>C (p.Arg809=)
12g.8937299T>GCA478308079PHC1c.2601T>G (p.Arg867=)
c.2466T>G (p.Arg822=)
c.*1451T>G (n.*1451T>G)
c.284-2572T>G (n.284-2572T>G)
c.2577T>G (p.Arg859=)
c.2652T>G (p.Arg884=)
c.2628T>G (p.Arg876=)
c.2502T>G (p.Arg834=)
c.2496T>G (p.Arg832=)
c.2445T>G (p.Arg815=)
c.2478T>G (p.Arg826=)
c.2451T>G (p.Arg817=)
c.2427T>G (p.Arg809=)
12g.8937299_8937302delCA2617520959PHC1c.2601_2604del (p.Ala868ArgfsTer?)
c.2466_2469del (p.Ala823ArgfsTer?)
c.*1451_*1454del (n.*1451_*1454del)
c.284-2572_284-2569del (n.284-2572_284-2569del)
c.2577_2580del (p.Ala860ArgfsTer?)
c.2652_2655del (p.Ala885ArgfsTer?)
c.2628_2631del (p.Ala877ArgfsTer?)
c.2502_2505del (p.Ala835ArgfsTer?)
c.2496_2499del (p.Ala833ArgfsTer?)
c.2445_2448del (p.Ala816ArgfsTer?)
c.2478_2481del (p.Ala827ArgfsTer?)
c.2451_2454del (p.Ala818ArgfsTer?)
c.2427_2430del (p.Ala810ArgfsTer?)
 gnomAD v4
12g.8937300G>ACA383816128PHC1c.2602G>A (p.Ala868Thr)
c.2467G>A (p.Ala823Thr)
c.*1452G>A (n.*1452G>A)
c.284-2571G>A (n.284-2571G>A)
c.2578G>A (p.Ala860Thr)
c.2653G>A (p.Ala885Thr)
c.2629G>A (p.Ala877Thr)
c.2503G>A (p.Ala835Thr)
c.2497G>A (p.Ala833Thr)
c.2446G>A (p.Ala816Thr)
c.2479G>A (p.Ala827Thr)
c.2452G>A (p.Ala818Thr)
c.2428G>A (p.Ala810Thr)
 gnomAD v4
12g.8937300G>CCA383816129PHC1c.2602G>C (p.Ala868Pro)
c.2467G>C (p.Ala823Pro)
c.*1452G>C (n.*1452G>C)
c.284-2571G>C (n.284-2571G>C)
c.2578G>C (p.Ala860Pro)
c.2653G>C (p.Ala885Pro)
c.2629G>C (p.Ala877Pro)
c.2503G>C (p.Ala835Pro)
c.2497G>C (p.Ala833Pro)
c.2446G>C (p.Ala816Pro)
c.2479G>C (p.Ala827Pro)
c.2452G>C (p.Ala818Pro)
c.2428G>C (p.Ala810Pro)
12g.8937300G>TCA383816130PHC1c.2602G>T (p.Ala868Ser)
c.2467G>T (p.Ala823Ser)
c.*1452G>T (n.*1452G>T)
c.284-2571G>T (n.284-2571G>T)
c.2578G>T (p.Ala860Ser)
c.2653G>T (p.Ala885Ser)
c.2629G>T (p.Ala877Ser)
c.2503G>T (p.Ala835Ser)
c.2497G>T (p.Ala833Ser)
c.2446G>T (p.Ala816Ser)
c.2479G>T (p.Ala827Ser)
c.2452G>T (p.Ala818Ser)
c.2428G>T (p.Ala810Ser)
 gnomAD v4
12g.8937301C>ACA383816131PHC1c.2603C>A (p.Ala868Asp)
c.2468C>A (p.Ala823Asp)
c.*1453C>A (n.*1453C>A)
c.284-2570C>A (n.284-2570C>A)
c.2579C>A (p.Ala860Asp)
c.2654C>A (p.Ala885Asp)
c.2630C>A (p.Ala877Asp)
c.2504C>A (p.Ala835Asp)
c.2498C>A (p.Ala833Asp)
c.2447C>A (p.Ala816Asp)
c.2480C>A (p.Ala827Asp)
c.2453C>A (p.Ala818Asp)
c.2429C>A (p.Ala810Asp)
 gnomAD v4
12g.8937301C>GCA383816132PHC1c.2603C>G (p.Ala868Gly)
c.2468C>G (p.Ala823Gly)
c.*1453C>G (n.*1453C>G)
c.284-2570C>G (n.284-2570C>G)
c.2579C>G (p.Ala860Gly)
c.2654C>G (p.Ala885Gly)
c.2630C>G (p.Ala877Gly)
c.2504C>G (p.Ala835Gly)
c.2498C>G (p.Ala833Gly)
c.2447C>G (p.Ala816Gly)
c.2480C>G (p.Ala827Gly)
c.2453C>G (p.Ala818Gly)
c.2429C>G (p.Ala810Gly)
12g.8937301C>TCA383816133PHC1c.2603C>T (p.Ala868Val)
c.2468C>T (p.Ala823Val)
c.*1453C>T (n.*1453C>T)
c.284-2570C>T (n.284-2570C>T)
c.2579C>T (p.Ala860Val)
c.2654C>T (p.Ala885Val)
c.2630C>T (p.Ala877Val)
c.2504C>T (p.Ala835Val)
c.2498C>T (p.Ala833Val)
c.2447C>T (p.Ala816Val)
c.2480C>T (p.Ala827Val)
c.2453C>T (p.Ala818Val)
c.2429C>T (p.Ala810Val)
12g.8937302C>ACA478308096PHC1c.2604C>A (p.Ala868=)
c.2469C>A (p.Ala823=)
c.*1454C>A (n.*1454C>A)
c.284-2569C>A (n.284-2569C>A)
c.2580C>A (p.Ala860=)
c.2655C>A (p.Ala885=)
c.2631C>A (p.Ala877=)
c.2505C>A (p.Ala835=)
c.2499C>A (p.Ala833=)
c.2448C>A (p.Ala816=)
c.2481C>A (p.Ala827=)
c.2454C>A (p.Ala818=)
c.2430C>A (p.Ala810=)
 gnomAD v4
12g.8937302C>GCA478308099PHC1c.2604C>G (p.Ala868=)
c.2469C>G (p.Ala823=)
c.*1454C>G (n.*1454C>G)
c.284-2569C>G (n.284-2569C>G)
c.2580C>G (p.Ala860=)
c.2655C>G (p.Ala885=)
c.2631C>G (p.Ala877=)
c.2505C>G (p.Ala835=)
c.2499C>G (p.Ala833=)
c.2448C>G (p.Ala816=)
c.2481C>G (p.Ala827=)
c.2454C>G (p.Ala818=)
c.2430C>G (p.Ala810=)
 gnomAD v4
12g.8937302C>TCA478308101PHC1c.2604C>T (p.Ala868=)
c.2469C>T (p.Ala823=)
c.*1454C>T (n.*1454C>T)
c.284-2569C>T (n.284-2569C>T)
c.2580C>T (p.Ala860=)
c.2655C>T (p.Ala885=)
c.2631C>T (p.Ala877=)
c.2505C>T (p.Ala835=)
c.2499C>T (p.Ala833=)
c.2448C>T (p.Ala816=)
c.2481C>T (p.Ala827=)
c.2454C>T (p.Ala818=)
c.2430C>T (p.Ala810=)
12g.8937303A=CA2015272730PHC1c.2605A= (p.Lys869=)
c.2470A= (p.Lys824=)
c.*1455A= (n.*1455A=)
c.284-2568A= (n.284-2568A=)
c.2581A= (p.Lys861=)
c.2656A= (p.Lys886=)
c.2632A= (p.Lys878=)
c.2506A= (p.Lys836=)
c.2500A= (p.Lys834=)
c.2449A= (p.Lys817=)
c.2482A= (p.Lys828=)
c.2455A= (p.Lys819=)
c.2431A= (p.Lys811=)
12g.8937303A>CCA383816134PHC1c.2605A>C (p.Lys869Gln)
c.2470A>C (p.Lys824Gln)
c.*1455A>C (n.*1455A>C)
c.284-2568A>C (n.284-2568A>C)
c.2581A>C (p.Lys861Gln)
c.2656A>C (p.Lys886Gln)
c.2632A>C (p.Lys878Gln)
c.2506A>C (p.Lys836Gln)
c.2500A>C (p.Lys834Gln)
c.2449A>C (p.Lys817Gln)
c.2482A>C (p.Lys828Gln)
c.2455A>C (p.Lys819Gln)
c.2431A>C (p.Lys811Gln)
12g.8937303A>GCA6437278PHC1c.2605A>G (p.Lys869Glu)
c.2470A>G (p.Lys824Glu)
c.*1455A>G (n.*1455A>G)
c.284-2568A>G (n.284-2568A>G)
c.2581A>G (p.Lys861Glu)
c.2656A>G (p.Lys886Glu)
c.2632A>G (p.Lys878Glu)
c.2506A>G (p.Lys836Glu)
c.2500A>G (p.Lys834Glu)
c.2449A>G (p.Lys817Glu)
c.2482A>G (p.Lys828Glu)
c.2455A>G (p.Lys819Glu)
c.2431A>G (p.Lys811Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.8937303A>TCA383816135PHC1c.2605A>T (p.Lys869Ter)
c.2470A>T (p.Lys824Ter)
c.*1455A>T (n.*1455A>T)
c.284-2568A>T (n.284-2568A>T)
c.2581A>T (p.Lys861Ter)
c.2656A>T (p.Lys886Ter)
c.2632A>T (p.Lys878Ter)
c.2506A>T (p.Lys836Ter)
c.2500A>T (p.Lys834Ter)
c.2449A>T (p.Lys817Ter)
c.2482A>T (p.Lys828Ter)
c.2455A>T (p.Lys819Ter)
c.2431A>T (p.Lys811Ter)
12g.8937304A>CCA383816136PHC1c.2606A>C (p.Lys869Thr)
c.2471A>C (p.Lys824Thr)
c.*1456A>C (n.*1456A>C)
c.284-2567A>C (n.284-2567A>C)
c.2582A>C (p.Lys861Thr)
c.2657A>C (p.Lys886Thr)
c.2633A>C (p.Lys878Thr)
c.2507A>C (p.Lys836Thr)
c.2501A>C (p.Lys834Thr)
c.2450A>C (p.Lys817Thr)
c.2483A>C (p.Lys828Thr)
c.2456A>C (p.Lys819Thr)
c.2432A>C (p.Lys811Thr)
12g.8937304A>GCA383816137PHC1c.2606A>G (p.Lys869Arg)
c.2471A>G (p.Lys824Arg)
c.*1456A>G (n.*1456A>G)
c.284-2567A>G (n.284-2567A>G)
c.2582A>G (p.Lys861Arg)
c.2657A>G (p.Lys886Arg)
c.2633A>G (p.Lys878Arg)
c.2507A>G (p.Lys836Arg)
c.2501A>G (p.Lys834Arg)
c.2450A>G (p.Lys817Arg)
c.2483A>G (p.Lys828Arg)
c.2456A>G (p.Lys819Arg)
c.2432A>G (p.Lys811Arg)
 gnomAD v4
12g.8937304A>TCA383816138PHC1c.2606A>T (p.Lys869Met)
c.2471A>T (p.Lys824Met)
c.*1456A>T (n.*1456A>T)
c.284-2567A>T (n.284-2567A>T)
c.2582A>T (p.Lys861Met)
c.2657A>T (p.Lys886Met)
c.2633A>T (p.Lys878Met)
c.2507A>T (p.Lys836Met)
c.2501A>T (p.Lys834Met)
c.2450A>T (p.Lys817Met)
c.2483A>T (p.Lys828Met)
c.2456A>T (p.Lys819Met)
c.2432A>T (p.Lys811Met)
12g.8937305G>ACA478308118PHC1c.2607G>A (p.Lys869=)
c.2472G>A (p.Lys824=)
c.*1457G>A (n.*1457G>A)
c.284-2566G>A (n.284-2566G>A)
c.2583G>A (p.Lys861=)
c.2658G>A (p.Lys886=)
c.2634G>A (p.Lys878=)
c.2508G>A (p.Lys836=)
c.2502G>A (p.Lys834=)
c.2451G>A (p.Lys817=)
c.2484G>A (p.Lys828=)
c.2457G>A (p.Lys819=)
c.2433G>A (p.Lys811=)
12g.8937305G>CCA383816139PHC1c.2607G>C (p.Lys869Asn)
c.2472G>C (p.Lys824Asn)
c.*1457G>C (n.*1457G>C)
c.284-2566G>C (n.284-2566G>C)
c.2583G>C (p.Lys861Asn)
c.2658G>C (p.Lys886Asn)
c.2634G>C (p.Lys878Asn)
c.2508G>C (p.Lys836Asn)
c.2502G>C (p.Lys834Asn)
c.2451G>C (p.Lys817Asn)
c.2484G>C (p.Lys828Asn)
c.2457G>C (p.Lys819Asn)
c.2433G>C (p.Lys811Asn)
12g.8937305G>TCA383816140PHC1c.2607G>T (p.Lys869Asn)
c.2472G>T (p.Lys824Asn)
c.*1457G>T (n.*1457G>T)
c.284-2566G>T (n.284-2566G>T)
c.2583G>T (p.Lys861Asn)
c.2658G>T (p.Lys886Asn)
c.2634G>T (p.Lys878Asn)
c.2508G>T (p.Lys836Asn)
c.2502G>T (p.Lys834Asn)
c.2451G>T (p.Lys817Asn)
c.2484G>T (p.Lys828Asn)
c.2457G>T (p.Lys819Asn)
c.2433G>T (p.Lys811Asn)
12g.8937306A=CA2015272731PHC1c.2608A= (p.Ile870=)
c.2473A= (p.Ile825=)
c.*1458A= (n.*1458A=)
c.284-2565A= (n.284-2565A=)
c.2584A= (p.Ile862=)
c.2659A= (p.Ile887=)
c.2635A= (p.Ile879=)
c.2509A= (p.Ile837=)
c.2503A= (p.Ile835=)
c.2452A= (p.Ile818=)
c.2485A= (p.Ile829=)
c.2458A= (p.Ile820=)
c.2434A= (p.Ile812=)
12g.8937306A>CCA383816141PHC1c.2608A>C (p.Ile870Leu)
c.2473A>C (p.Ile825Leu)
c.*1458A>C (n.*1458A>C)
c.284-2565A>C (n.284-2565A>C)
c.2584A>C (p.Ile862Leu)
c.2659A>C (p.Ile887Leu)
c.2635A>C (p.Ile879Leu)
c.2509A>C (p.Ile837Leu)
c.2503A>C (p.Ile835Leu)
c.2452A>C (p.Ile818Leu)
c.2485A>C (p.Ile829Leu)
c.2458A>C (p.Ile820Leu)
c.2434A>C (p.Ile812Leu)
12g.8937306A>GCA6437279PHC1c.2608A>G (p.Ile870Val)
c.2473A>G (p.Ile825Val)
c.*1458A>G (n.*1458A>G)
c.284-2565A>G (n.284-2565A>G)
c.2584A>G (p.Ile862Val)
c.2659A>G (p.Ile887Val)
c.2635A>G (p.Ile879Val)
c.2509A>G (p.Ile837Val)
c.2503A>G (p.Ile835Val)
c.2452A>G (p.Ile818Val)
c.2485A>G (p.Ile829Val)
c.2458A>G (p.Ile820Val)
c.2434A>G (p.Ile812Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.8937306A>TCA383816142PHC1c.2608A>T (p.Ile870Phe)
c.2473A>T (p.Ile825Phe)
c.*1458A>T (n.*1458A>T)
c.284-2565A>T (n.284-2565A>T)
c.2584A>T (p.Ile862Phe)
c.2659A>T (p.Ile887Phe)
c.2635A>T (p.Ile879Phe)
c.2509A>T (p.Ile837Phe)
c.2503A>T (p.Ile835Phe)
c.2452A>T (p.Ile818Phe)
c.2485A>T (p.Ile829Phe)
c.2458A>T (p.Ile820Phe)
c.2434A>T (p.Ile812Phe)
12g.8937307T>ACA383816143PHC1c.2609T>A (p.Ile870Asn)
c.2474T>A (p.Ile825Asn)
c.*1459T>A (n.*1459T>A)
c.284-2564T>A (n.284-2564T>A)
c.2585T>A (p.Ile862Asn)
c.2660T>A (p.Ile887Asn)
c.2636T>A (p.Ile879Asn)
c.2510T>A (p.Ile837Asn)
c.2504T>A (p.Ile835Asn)
c.2453T>A (p.Ile818Asn)
c.2486T>A (p.Ile829Asn)
c.2459T>A (p.Ile820Asn)
c.2435T>A (p.Ile812Asn)
12g.8937307T>CCA383816144PHC1c.2609T>C (p.Ile870Thr)
c.2474T>C (p.Ile825Thr)
c.*1459T>C (n.*1459T>C)
c.284-2564T>C (n.284-2564T>C)
c.2585T>C (p.Ile862Thr)
c.2660T>C (p.Ile887Thr)
c.2636T>C (p.Ile879Thr)
c.2510T>C (p.Ile837Thr)
c.2504T>C (p.Ile835Thr)
c.2453T>C (p.Ile818Thr)
c.2486T>C (p.Ile829Thr)
c.2459T>C (p.Ile820Thr)
c.2435T>C (p.Ile812Thr)
 gnomAD v4
12g.8937307T>GCA383816145PHC1c.2609T>G (p.Ile870Ser)
c.2474T>G (p.Ile825Ser)
c.*1459T>G (n.*1459T>G)
c.284-2564T>G (n.284-2564T>G)
c.2585T>G (p.Ile862Ser)
c.2660T>G (p.Ile887Ser)
c.2636T>G (p.Ile879Ser)
c.2510T>G (p.Ile837Ser)
c.2504T>G (p.Ile835Ser)
c.2453T>G (p.Ile818Ser)
c.2486T>G (p.Ile829Ser)
c.2459T>G (p.Ile820Ser)
c.2435T>G (p.Ile812Ser)
12g.8937308T>ACA478308139PHC1c.2610T>A (p.Ile870=)
c.2475T>A (p.Ile825=)
c.*1460T>A (n.*1460T>A)
c.284-2563T>A (n.284-2563T>A)
c.2586T>A (p.Ile862=)
c.2661T>A (p.Ile887=)
c.2637T>A (p.Ile879=)
c.2511T>A (p.Ile837=)
c.2505T>A (p.Ile835=)
c.2454T>A (p.Ile818=)
c.2487T>A (p.Ile829=)
c.2460T>A (p.Ile820=)
c.2436T>A (p.Ile812=)
12g.8937308T>CCA478308144PHC1c.2610T>C (p.Ile870=)
c.2475T>C (p.Ile825=)
c.*1460T>C (n.*1460T>C)
c.284-2563T>C (n.284-2563T>C)
c.2586T>C (p.Ile862=)
c.2661T>C (p.Ile887=)
c.2637T>C (p.Ile879=)
c.2511T>C (p.Ile837=)
c.2505T>C (p.Ile835=)
c.2454T>C (p.Ile818=)
c.2487T>C (p.Ile829=)
c.2460T>C (p.Ile820=)
c.2436T>C (p.Ile812=)
12g.8937308T>GCA383816146PHC1c.2610T>G (p.Ile870Met)
c.2475T>G (p.Ile825Met)
c.*1460T>G (n.*1460T>G)
c.284-2563T>G (n.284-2563T>G)
c.2586T>G (p.Ile862Met)
c.2661T>G (p.Ile887Met)
c.2637T>G (p.Ile879Met)
c.2511T>G (p.Ile837Met)
c.2505T>G (p.Ile835Met)
c.2454T>G (p.Ile818Met)
c.2487T>G (p.Ile829Met)
c.2460T>G (p.Ile820Met)
c.2436T>G (p.Ile812Met)
 COSMIC
12g.8937309C>ACA383816148PHC1c.2611C>A (p.Gln871Lys)
c.2476C>A (p.Gln826Lys)
c.*1461C>A (n.*1461C>A)
c.284-2562C>A (n.284-2562C>A)
c.2587C>A (p.Gln863Lys)
c.2662C>A (p.Gln888Lys)
c.2638C>A (p.Gln880Lys)
c.2512C>A (p.Gln838Lys)
c.2506C>A (p.Gln836Lys)
c.2455C>A (p.Gln819Lys)
c.2488C>A (p.Gln830Lys)
c.2461C>A (p.Gln821Lys)
c.2437C>A (p.Gln813Lys)
 gnomAD v4
12g.8937309C=CA2015272732PHC1c.2611C= (p.Gln871=)
c.2476C= (p.Gln826=)
c.*1461C= (n.*1461C=)
c.284-2562C= (n.284-2562C=)
c.2587C= (p.Gln863=)
c.2662C= (p.Gln888=)
c.2638C= (p.Gln880=)
c.2512C= (p.Gln838=)
c.2506C= (p.Gln836=)
c.2455C= (p.Gln819=)
c.2488C= (p.Gln830=)
c.2461C= (p.Gln821=)
c.2437C= (p.Gln813=)
12g.8937309C>GCA383816149PHC1c.2611C>G (p.Gln871Glu)
c.2476C>G (p.Gln826Glu)
c.*1461C>G (n.*1461C>G)
c.284-2562C>G (n.284-2562C>G)
c.2587C>G (p.Gln863Glu)
c.2662C>G (p.Gln888Glu)
c.2638C>G (p.Gln880Glu)
c.2512C>G (p.Gln838Glu)
c.2506C>G (p.Gln836Glu)
c.2455C>G (p.Gln819Glu)
c.2488C>G (p.Gln830Glu)
c.2461C>G (p.Gln821Glu)
c.2437C>G (p.Gln813Glu)
 dbSNP gnomAD v2
12g.8937309C>TCA383816147PHC1c.2611C>T (p.Gln871Ter)
c.2476C>T (p.Gln826Ter)
c.*1461C>T (n.*1461C>T)
c.284-2562C>T (n.284-2562C>T)
c.2587C>T (p.Gln863Ter)
c.2662C>T (p.Gln888Ter)
c.2638C>T (p.Gln880Ter)
c.2512C>T (p.Gln838Ter)
c.2506C>T (p.Gln836Ter)
c.2455C>T (p.Gln819Ter)
c.2488C>T (p.Gln830Ter)
c.2461C>T (p.Gln821Ter)
c.2437C>T (p.Gln813Ter)
12g.8937310A=CA2015272733PHC1c.2612A= (p.Gln871=)
c.2477A= (p.Gln826=)
c.*1462A= (n.*1462A=)
c.284-2561A= (n.284-2561A=)
c.2588A= (p.Gln863=)
c.2663A= (p.Gln888=)
c.2639A= (p.Gln880=)
c.2513A= (p.Gln838=)
c.2507A= (p.Gln836=)
c.2456A= (p.Gln819=)
c.2489A= (p.Gln830=)
c.2462A= (p.Gln821=)
c.2438A= (p.Gln813=)
12g.8937310A>CCA383816150PHC1c.2612A>C (p.Gln871Pro)
c.2477A>C (p.Gln826Pro)
c.*1462A>C (n.*1462A>C)
c.284-2561A>C (n.284-2561A>C)
c.2588A>C (p.Gln863Pro)
c.2663A>C (p.Gln888Pro)
c.2639A>C (p.Gln880Pro)
c.2513A>C (p.Gln838Pro)
c.2507A>C (p.Gln836Pro)
c.2456A>C (p.Gln819Pro)
c.2489A>C (p.Gln830Pro)
c.2462A>C (p.Gln821Pro)
c.2438A>C (p.Gln813Pro)
12g.8937310A>GCA383816152PHC1c.2612A>G (p.Gln871Arg)
c.2477A>G (p.Gln826Arg)
c.*1462A>G (n.*1462A>G)
c.284-2561A>G (n.284-2561A>G)
c.2588A>G (p.Gln863Arg)
c.2663A>G (p.Gln888Arg)
c.2639A>G (p.Gln880Arg)
c.2513A>G (p.Gln838Arg)
c.2507A>G (p.Gln836Arg)
c.2456A>G (p.Gln819Arg)
c.2489A>G (p.Gln830Arg)
c.2462A>G (p.Gln821Arg)
c.2438A>G (p.Gln813Arg)
 dbSNP gnomAD v2 gnomAD v4
12g.8937310A>TCA383816151PHC1c.2612A>T (p.Gln871Leu)
c.2477A>T (p.Gln826Leu)
c.*1462A>T (n.*1462A>T)
c.284-2561A>T (n.284-2561A>T)
c.2588A>T (p.Gln863Leu)
c.2663A>T (p.Gln888Leu)
c.2639A>T (p.Gln880Leu)
c.2513A>T (p.Gln838Leu)
c.2507A>T (p.Gln836Leu)
c.2456A>T (p.Gln819Leu)
c.2489A>T (p.Gln830Leu)
c.2462A>T (p.Gln821Leu)
c.2438A>T (p.Gln813Leu)
12g.8937311G>ACA478308163PHC1c.2613G>A (p.Gln871=)
c.2478G>A (p.Gln826=)
c.*1463G>A (n.*1463G>A)
c.284-2560G>A (n.284-2560G>A)
c.2589G>A (p.Gln863=)
c.2664G>A (p.Gln888=)
c.2640G>A (p.Gln880=)
c.2514G>A (p.Gln838=)
c.2508G>A (p.Gln836=)
c.2457G>A (p.Gln819=)
c.2490G>A (p.Gln830=)
c.2463G>A (p.Gln821=)
c.2439G>A (p.Gln813=)
 gnomAD v4
12g.8937311G>CCA383816153PHC1c.2613G>C (p.Gln871His)
c.2478G>C (p.Gln826His)
c.*1463G>C (n.*1463G>C)
c.284-2560G>C (n.284-2560G>C)
c.2589G>C (p.Gln863His)
c.2664G>C (p.Gln888His)
c.2640G>C (p.Gln880His)
c.2514G>C (p.Gln838His)
c.2508G>C (p.Gln836His)
c.2457G>C (p.Gln819His)
c.2490G>C (p.Gln830His)
c.2463G>C (p.Gln821His)
c.2439G>C (p.Gln813His)
12g.8937311G>TCA383816154PHC1c.2613G>T (p.Gln871His)
c.2478G>T (p.Gln826His)
c.*1463G>T (n.*1463G>T)
c.284-2560G>T (n.284-2560G>T)
c.2589G>T (p.Gln863His)
c.2664G>T (p.Gln888His)
c.2640G>T (p.Gln880His)
c.2514G>T (p.Gln838His)
c.2508G>T (p.Gln836His)
c.2457G>T (p.Gln819His)
c.2490G>T (p.Gln830His)
c.2463G>T (p.Gln821His)
c.2439G>T (p.Gln813His)
12g.8937312G>ACA383816155PHC1c.2614G>A (p.Gly872Ser)
c.2479G>A (p.Gly827Ser)
c.*1464G>A (n.*1464G>A)
c.284-2559G>A (n.284-2559G>A)
c.2590G>A (p.Gly864Ser)
c.2665G>A (p.Gly889Ser)
c.2641G>A (p.Gly881Ser)
c.2515G>A (p.Gly839Ser)
c.2509G>A (p.Gly837Ser)
c.2458G>A (p.Gly820Ser)
c.2491G>A (p.Gly831Ser)
c.2464G>A (p.Gly822Ser)
c.2440G>A (p.Gly814Ser)
 dbSNP gnomAD v2
12g.8937312G>CCA383816156PHC1c.2614G>C (p.Gly872Arg)
c.2479G>C (p.Gly827Arg)
c.*1464G>C (n.*1464G>C)
c.284-2559G>C (n.284-2559G>C)
c.2590G>C (p.Gly864Arg)
c.2665G>C (p.Gly889Arg)
c.2641G>C (p.Gly881Arg)
c.2515G>C (p.Gly839Arg)
c.2509G>C (p.Gly837Arg)
c.2458G>C (p.Gly820Arg)
c.2491G>C (p.Gly831Arg)
c.2464G>C (p.Gly822Arg)
c.2440G>C (p.Gly814Arg)
12g.8937312G=CA2015272734PHC1c.2614G= (p.Gly872=)
c.2479G= (p.Gly827=)
c.*1464G= (n.*1464G=)
c.284-2559G= (n.284-2559G=)
c.2590G= (p.Gly864=)
c.2665G= (p.Gly889=)
c.2641G= (p.Gly881=)
c.2515G= (p.Gly839=)
c.2509G= (p.Gly837=)
c.2458G= (p.Gly820=)
c.2491G= (p.Gly831=)
c.2464G= (p.Gly822=)
c.2440G= (p.Gly814=)
12g.8937312G>TCA383816157PHC1c.2614G>T (p.Gly872Cys)
c.2479G>T (p.Gly827Cys)
c.*1464G>T (n.*1464G>T)
c.284-2559G>T (n.284-2559G>T)
c.2590G>T (p.Gly864Cys)
c.2665G>T (p.Gly889Cys)
c.2641G>T (p.Gly881Cys)
c.2515G>T (p.Gly839Cys)
c.2509G>T (p.Gly837Cys)
c.2458G>T (p.Gly820Cys)
c.2491G>T (p.Gly831Cys)
c.2464G>T (p.Gly822Cys)
c.2440G>T (p.Gly814Cys)
12g.8937313G>ACA383816158PHC1c.2615G>A (p.Gly872Asp)
c.2480G>A (p.Gly827Asp)
c.*1465G>A (n.*1465G>A)
c.284-2558G>A (n.284-2558G>A)
c.2591G>A (p.Gly864Asp)
c.2666G>A (p.Gly889Asp)
c.2642G>A (p.Gly881Asp)
c.2516G>A (p.Gly839Asp)
c.2510G>A (p.Gly837Asp)
c.2459G>A (p.Gly820Asp)
c.2492G>A (p.Gly831Asp)
c.2465G>A (p.Gly822Asp)
c.2441G>A (p.Gly814Asp)
12g.8937313G>CCA383816159PHC1c.2615G>C (p.Gly872Ala)
c.2480G>C (p.Gly827Ala)
c.*1465G>C (n.*1465G>C)
c.284-2558G>C (n.284-2558G>C)
c.2591G>C (p.Gly864Ala)
c.2666G>C (p.Gly889Ala)
c.2642G>C (p.Gly881Ala)
c.2516G>C (p.Gly839Ala)
c.2510G>C (p.Gly837Ala)
c.2459G>C (p.Gly820Ala)
c.2492G>C (p.Gly831Ala)
c.2465G>C (p.Gly822Ala)
c.2441G>C (p.Gly814Ala)
12g.8937313G>TCA383816160PHC1c.2615G>T (p.Gly872Val)
c.2480G>T (p.Gly827Val)
c.*1465G>T (n.*1465G>T)
c.284-2558G>T (n.284-2558G>T)
c.2591G>T (p.Gly864Val)
c.2666G>T (p.Gly889Val)
c.2642G>T (p.Gly881Val)
c.2516G>T (p.Gly839Val)
c.2510G>T (p.Gly837Val)
c.2459G>T (p.Gly820Val)
c.2492G>T (p.Gly831Val)
c.2465G>T (p.Gly822Val)
c.2441G>T (p.Gly814Val)
12g.8937314C>ACA478308184PHC1c.2616C>A (p.Gly872=)
c.2481C>A (p.Gly827=)
c.*1466C>A (n.*1466C>A)
c.284-2557C>A (n.284-2557C>A)
c.2592C>A (p.Gly864=)
c.2667C>A (p.Gly889=)
c.2643C>A (p.Gly881=)
c.2517C>A (p.Gly839=)
c.2511C>A (p.Gly837=)
c.2460C>A (p.Gly820=)
c.2493C>A (p.Gly831=)
c.2466C>A (p.Gly822=)
c.2442C>A (p.Gly814=)
 gnomAD v4
12g.8937314C=CA2015272735PHC1c.2616C= (p.Gly872=)
c.2481C= (p.Gly827=)
c.*1466C= (n.*1466C=)
c.284-2557C= (n.284-2557C=)
c.2592C= (p.Gly864=)
c.2667C= (p.Gly889=)
c.2643C= (p.Gly881=)
c.2517C= (p.Gly839=)
c.2511C= (p.Gly837=)
c.2460C= (p.Gly820=)
c.2493C= (p.Gly831=)
c.2466C= (p.Gly822=)
c.2442C= (p.Gly814=)
12g.8937314C>GCA478308192PHC1c.2616C>G (p.Gly872=)
c.2481C>G (p.Gly827=)
c.*1466C>G (n.*1466C>G)
c.284-2557C>G (n.284-2557C>G)
c.2592C>G (p.Gly864=)
c.2667C>G (p.Gly889=)
c.2643C>G (p.Gly881=)
c.2517C>G (p.Gly839=)
c.2511C>G (p.Gly837=)
c.2460C>G (p.Gly820=)
c.2493C>G (p.Gly831=)
c.2466C>G (p.Gly822=)
c.2442C>G (p.Gly814=)
 dbSNP
12g.8937314C>TCA478308189PHC1c.2616C>T (p.Gly872=)
c.2481C>T (p.Gly827=)
c.*1466C>T (n.*1466C>T)
c.284-2557C>T (n.284-2557C>T)
c.2592C>T (p.Gly864=)
c.2667C>T (p.Gly889=)
c.2643C>T (p.Gly881=)
c.2517C>T (p.Gly839=)
c.2511C>T (p.Gly837=)
c.2460C>T (p.Gly820=)
c.2493C>T (p.Gly831=)
c.2466C>T (p.Gly822=)
c.2442C>T (p.Gly814=)
12g.8937315A>CCA383816161PHC1c.2617A>C (p.Lys873Gln)
c.2482A>C (p.Lys828Gln)
c.*1467A>C (n.*1467A>C)
c.284-2556A>C (n.284-2556A>C)
c.2593A>C (p.Lys865Gln)
c.2668A>C (p.Lys890Gln)
c.2644A>C (p.Lys882Gln)
c.2518A>C (p.Lys840Gln)
c.2512A>C (p.Lys838Gln)
c.2461A>C (p.Lys821Gln)
c.2494A>C (p.Lys832Gln)
c.2467A>C (p.Lys823Gln)
c.2443A>C (p.Lys815Gln)
 gnomAD v4
12g.8937315A>GCA383816162PHC1c.2617A>G (p.Lys873Glu)
c.2482A>G (p.Lys828Glu)
c.*1467A>G (n.*1467A>G)
c.284-2556A>G (n.284-2556A>G)
c.2593A>G (p.Lys865Glu)
c.2668A>G (p.Lys890Glu)
c.2644A>G (p.Lys882Glu)
c.2518A>G (p.Lys840Glu)
c.2512A>G (p.Lys838Glu)
c.2461A>G (p.Lys821Glu)
c.2494A>G (p.Lys832Glu)
c.2467A>G (p.Lys823Glu)
c.2443A>G (p.Lys815Glu)
12g.8937315A>TCA383816163PHC1c.2617A>T (p.Lys873Ter)
c.2482A>T (p.Lys828Ter)
c.*1467A>T (n.*1467A>T)
c.284-2556A>T (n.284-2556A>T)
c.2593A>T (p.Lys865Ter)
c.2668A>T (p.Lys890Ter)
c.2644A>T (p.Lys882Ter)
c.2518A>T (p.Lys840Ter)
c.2512A>T (p.Lys838Ter)
c.2461A>T (p.Lys821Ter)
c.2494A>T (p.Lys832Ter)
c.2467A>T (p.Lys823Ter)
c.2443A>T (p.Lys815Ter)
12g.8937316A=CA2015272736PHC1c.2618A= (p.Lys873=)
c.2483A= (p.Lys828=)
c.*1468A= (n.*1468A=)
c.284-2555A= (n.284-2555A=)
c.2594A= (p.Lys865=)
c.2669A= (p.Lys890=)
c.2645A= (p.Lys882=)
c.2519A= (p.Lys840=)
c.2513A= (p.Lys838=)
c.2462A= (p.Lys821=)
c.2495A= (p.Lys832=)
c.2468A= (p.Lys823=)
c.2444A= (p.Lys815=)
12g.8937316A>CCA383816165PHC1c.2618A>C (p.Lys873Thr)
c.2483A>C (p.Lys828Thr)
c.*1468A>C (n.*1468A>C)
c.284-2555A>C (n.284-2555A>C)
c.2594A>C (p.Lys865Thr)
c.2669A>C (p.Lys890Thr)
c.2645A>C (p.Lys882Thr)
c.2519A>C (p.Lys840Thr)
c.2513A>C (p.Lys838Thr)
c.2462A>C (p.Lys821Thr)
c.2495A>C (p.Lys832Thr)
c.2468A>C (p.Lys823Thr)
c.2444A>C (p.Lys815Thr)
12g.8937316A>GCA6437280PHC1c.2618A>G (p.Lys873Arg)
c.2483A>G (p.Lys828Arg)
c.*1468A>G (n.*1468A>G)
c.284-2555A>G (n.284-2555A>G)
c.2594A>G (p.Lys865Arg)
c.2669A>G (p.Lys890Arg)
c.2645A>G (p.Lys882Arg)
c.2519A>G (p.Lys840Arg)
c.2513A>G (p.Lys838Arg)
c.2462A>G (p.Lys821Arg)
c.2495A>G (p.Lys832Arg)
c.2468A>G (p.Lys823Arg)
c.2444A>G (p.Lys815Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.8937316A>TCA383816164PHC1c.2618A>T (p.Lys873Met)
c.2483A>T (p.Lys828Met)
c.*1468A>T (n.*1468A>T)
c.284-2555A>T (n.284-2555A>T)
c.2594A>T (p.Lys865Met)
c.2669A>T (p.Lys890Met)
c.2645A>T (p.Lys882Met)
c.2519A>T (p.Lys840Met)
c.2513A>T (p.Lys838Met)
c.2462A>T (p.Lys821Met)
c.2495A>T (p.Lys832Met)
c.2468A>T (p.Lys823Met)
c.2444A>T (p.Lys815Met)
12g.8937317G>ACA6437281PHC1c.2619G>A (p.Lys873=)
c.2484G>A (p.Lys828=)
c.*1469G>A (n.*1469G>A)
c.284-2554G>A (n.284-2554G>A)
c.2595G>A (p.Lys865=)
c.2670G>A (p.Lys890=)
c.2646G>A (p.Lys882=)
c.2520G>A (p.Lys840=)
c.2514G>A (p.Lys838=)
c.2463G>A (p.Lys821=)
c.2496G>A (p.Lys832=)
c.2469G>A (p.Lys823=)
c.2445G>A (p.Lys815=)
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.8937317G>CCA383816166PHC1c.2619G>C (p.Lys873Asn)
c.2484G>C (p.Lys828Asn)
c.*1469G>C (n.*1469G>C)
c.284-2554G>C (n.284-2554G>C)
c.2595G>C (p.Lys865Asn)
c.2670G>C (p.Lys890Asn)
c.2646G>C (p.Lys882Asn)
c.2520G>C (p.Lys840Asn)
c.2514G>C (p.Lys838Asn)
c.2463G>C (p.Lys821Asn)
c.2496G>C (p.Lys832Asn)
c.2469G>C (p.Lys823Asn)
c.2445G>C (p.Lys815Asn)
12g.8937317G=CA2015272737PHC1c.2619G= (p.Lys873=)
c.2484G= (p.Lys828=)
c.*1469G= (n.*1469G=)
c.284-2554G= (n.284-2554G=)
c.2595G= (p.Lys865=)
c.2670G= (p.Lys890=)
c.2646G= (p.Lys882=)
c.2520G= (p.Lys840=)
c.2514G= (p.Lys838=)
c.2463G= (p.Lys821=)
c.2496G= (p.Lys832=)
c.2469G= (p.Lys823=)
c.2445G= (p.Lys815=)
12g.8937317G>TCA383816167PHC1c.2619G>T (p.Lys873Asn)
c.2484G>T (p.Lys828Asn)
c.*1469G>T (n.*1469G>T)
c.284-2554G>T (n.284-2554G>T)
c.2595G>T (p.Lys865Asn)
c.2670G>T (p.Lys890Asn)
c.2646G>T (p.Lys882Asn)
c.2520G>T (p.Lys840Asn)
c.2514G>T (p.Lys838Asn)
c.2463G>T (p.Lys821Asn)
c.2496G>T (p.Lys832Asn)
c.2469G>T (p.Lys823Asn)
c.2445G>T (p.Lys815Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.8937318T>ACA383816168PHC1c.2620T>A (p.Cys874Ser)
c.2485T>A (p.Cys829Ser)
c.*1470T>A (n.*1470T>A)
c.284-2553T>A (n.284-2553T>A)
c.2596T>A (p.Cys866Ser)
c.2671T>A (p.Cys891Ser)
c.2647T>A (p.Cys883Ser)
c.2521T>A (p.Cys841Ser)
c.2515T>A (p.Cys839Ser)
c.2464T>A (p.Cys822Ser)
c.2497T>A (p.Cys833Ser)
c.2470T>A (p.Cys824Ser)
c.2446T>A (p.Cys816Ser)
 gnomAD v4
12g.8937318T>CCA383816169PHC1c.2620T>C (p.Cys874Arg)
c.2485T>C (p.Cys829Arg)
c.*1470T>C (n.*1470T>C)
c.284-2553T>C (n.284-2553T>C)
c.2596T>C (p.Cys866Arg)
c.2671T>C (p.Cys891Arg)
c.2647T>C (p.Cys883Arg)
c.2521T>C (p.Cys841Arg)
c.2515T>C (p.Cys839Arg)
c.2464T>C (p.Cys822Arg)
c.2497T>C (p.Cys833Arg)
c.2470T>C (p.Cys824Arg)
c.2446T>C (p.Cys816Arg)
12g.8937318T>GCA383816170PHC1c.2620T>G (p.Cys874Gly)
c.2485T>G (p.Cys829Gly)
c.*1470T>G (n.*1470T>G)
c.284-2553T>G (n.284-2553T>G)
c.2596T>G (p.Cys866Gly)
c.2671T>G (p.Cys891Gly)
c.2647T>G (p.Cys883Gly)
c.2521T>G (p.Cys841Gly)
c.2515T>G (p.Cys839Gly)
c.2464T>G (p.Cys822Gly)
c.2497T>G (p.Cys833Gly)
c.2470T>G (p.Cys824Gly)
c.2446T>G (p.Cys816Gly)
12g.8937319G>ACA383816171PHC1c.2621G>A (p.Cys874Tyr)
c.2486G>A (p.Cys829Tyr)
c.*1471G>A (n.*1471G>A)
c.284-2552G>A (n.284-2552G>A)
c.2597G>A (p.Cys866Tyr)
c.2672G>A (p.Cys891Tyr)
c.2648G>A (p.Cys883Tyr)
c.2522G>A (p.Cys841Tyr)
c.2516G>A (p.Cys839Tyr)
c.2465G>A (p.Cys822Tyr)
c.2498G>A (p.Cys833Tyr)
c.2471G>A (p.Cys824Tyr)
c.2447G>A (p.Cys816Tyr)
 gnomAD v4
12g.8937319G>CCA383816172PHC1c.2621G>C (p.Cys874Ser)
c.2486G>C (p.Cys829Ser)
c.*1471G>C (n.*1471G>C)
c.284-2552G>C (n.284-2552G>C)
c.2597G>C (p.Cys866Ser)
c.2672G>C (p.Cys891Ser)
c.2648G>C (p.Cys883Ser)
c.2522G>C (p.Cys841Ser)
c.2516G>C (p.Cys839Ser)
c.2465G>C (p.Cys822Ser)
c.2498G>C (p.Cys833Ser)
c.2471G>C (p.Cys824Ser)
c.2447G>C (p.Cys816Ser)
12g.8937319G>TCA383816173PHC1c.2621G>T (p.Cys874Phe)
c.2486G>T (p.Cys829Phe)
c.*1471G>T (n.*1471G>T)
c.284-2552G>T (n.284-2552G>T)
c.2597G>T (p.Cys866Phe)
c.2672G>T (p.Cys891Phe)
c.2648G>T (p.Cys883Phe)
c.2522G>T (p.Cys841Phe)
c.2516G>T (p.Cys839Phe)
c.2465G>T (p.Cys822Phe)
c.2498G>T (p.Cys833Phe)
c.2471G>T (p.Cys824Phe)
c.2447G>T (p.Cys816Phe)
12g.8937320C>ACA383816174PHC1c.2622C>A (p.Cys874Ter)
c.2487C>A (p.Cys829Ter)
c.*1472C>A (n.*1472C>A)
c.284-2551C>A (n.284-2551C>A)
c.2598C>A (p.Cys866Ter)
c.2673C>A (p.Cys891Ter)
c.2649C>A (p.Cys883Ter)
c.2523C>A (p.Cys841Ter)
c.2517C>A (p.Cys839Ter)
c.2466C>A (p.Cys822Ter)
c.2499C>A (p.Cys833Ter)
c.2472C>A (p.Cys824Ter)
c.2448C>A (p.Cys816Ter)
 gnomAD v4
12g.8937320C>GCA383816175PHC1c.2622C>G (p.Cys874Trp)
c.2487C>G (p.Cys829Trp)
c.*1472C>G (n.*1472C>G)
c.284-2551C>G (n.284-2551C>G)
c.2598C>G (p.Cys866Trp)
c.2673C>G (p.Cys891Trp)
c.2649C>G (p.Cys883Trp)
c.2523C>G (p.Cys841Trp)
c.2517C>G (p.Cys839Trp)
c.2466C>G (p.Cys822Trp)
c.2499C>G (p.Cys833Trp)
c.2472C>G (p.Cys824Trp)
c.2448C>G (p.Cys816Trp)
12g.8937320C>TCA478308239PHC1c.2622C>T (p.Cys874=)
c.2487C>T (p.Cys829=)
c.*1472C>T (n.*1472C>T)
c.284-2551C>T (n.284-2551C>T)
c.2598C>T (p.Cys866=)
c.2673C>T (p.Cys891=)
c.2649C>T (p.Cys883=)
c.2523C>T (p.Cys841=)
c.2517C>T (p.Cys839=)
c.2466C>T (p.Cys822=)
c.2499C>T (p.Cys833=)
c.2472C>T (p.Cys824=)
c.2448C>T (p.Cys816=)
 gnomAD v4
12g.8937321C>ACA383816177PHC1c.2623C>A (p.His875Asn)
c.2488C>A (p.His830Asn)
c.*1473C>A (n.*1473C>A)
c.284-2550C>A (n.284-2550C>A)
c.2599C>A (p.His867Asn)
c.2674C>A (p.His892Asn)
c.2650C>A (p.His884Asn)
c.2524C>A (p.His842Asn)
c.2518C>A (p.His840Asn)
c.2467C>A (p.His823Asn)
c.2500C>A (p.His834Asn)
c.2473C>A (p.His825Asn)
c.2449C>A (p.His817Asn)
 gnomAD v4
12g.8937321C=CA2015272738PHC1c.2623C= (p.His875=)
c.2488C= (p.His830=)
c.*1473C= (n.*1473C=)
c.284-2550C= (n.284-2550C=)
c.2599C= (p.His867=)
c.2674C= (p.His892=)
c.2650C= (p.His884=)
c.2524C= (p.His842=)
c.2518C= (p.His840=)
c.2467C= (p.His823=)
c.2500C= (p.His834=)
c.2473C= (p.His825=)
c.2449C= (p.His817=)
12g.8937321C>GCA383816178PHC1c.2623C>G (p.His875Asp)
c.2488C>G (p.His830Asp)
c.*1473C>G (n.*1473C>G)
c.284-2550C>G (n.284-2550C>G)
c.2599C>G (p.His867Asp)
c.2674C>G (p.His892Asp)
c.2650C>G (p.His884Asp)
c.2524C>G (p.His842Asp)
c.2518C>G (p.His840Asp)
c.2467C>G (p.His823Asp)
c.2500C>G (p.His834Asp)
c.2473C>G (p.His825Asp)
c.2449C>G (p.His817Asp)
12g.8937321C>TCA383816176PHC1c.2623C>T (p.His875Tyr)
c.2488C>T (p.His830Tyr)
c.*1473C>T (n.*1473C>T)
c.284-2550C>T (n.284-2550C>T)
c.2599C>T (p.His867Tyr)
c.2674C>T (p.His892Tyr)
c.2650C>T (p.His884Tyr)
c.2524C>T (p.His842Tyr)
c.2518C>T (p.His840Tyr)
c.2467C>T (p.His823Tyr)
c.2500C>T (p.His834Tyr)
c.2473C>T (p.His825Tyr)
c.2449C>T (p.His817Tyr)
 dbSNP gnomAD v2 gnomAD v4
12g.8937322A=CA2015272739PHC1c.2624A= (p.His875=)
c.2489A= (p.His830=)
c.*1474A= (n.*1474A=)
c.284-2549A= (n.284-2549A=)
c.2600A= (p.His867=)
c.2675A= (p.His892=)
c.2651A= (p.His884=)
c.2525A= (p.His842=)
c.2519A= (p.His840=)
c.2468A= (p.His823=)
c.2501A= (p.His834=)
c.2474A= (p.His825=)
c.2450A= (p.His817=)
12g.8937322A>CCA232656708PHC1c.2624A>C (p.His875Pro)
c.2489A>C (p.His830Pro)
c.*1474A>C (n.*1474A>C)
c.284-2549A>C (n.284-2549A>C)
c.2600A>C (p.His867Pro)
c.2675A>C (p.His892Pro)
c.2651A>C (p.His884Pro)
c.2525A>C (p.His842Pro)
c.2519A>C (p.His840Pro)
c.2468A>C (p.His823Pro)
c.2501A>C (p.His834Pro)
c.2474A>C (p.His825Pro)
c.2450A>C (p.His817Pro)
 dbSNP
12g.8937322A>GCA6437282PHC1c.2624A>G (p.His875Arg)
c.2489A>G (p.His830Arg)
c.*1474A>G (n.*1474A>G)
c.284-2549A>G (n.284-2549A>G)
c.2600A>G (p.His867Arg)
c.2675A>G (p.His892Arg)
c.2651A>G (p.His884Arg)
c.2525A>G (p.His842Arg)
c.2519A>G (p.His840Arg)
c.2468A>G (p.His823Arg)
c.2501A>G (p.His834Arg)
c.2474A>G (p.His825Arg)
c.2450A>G (p.His817Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.8937322A>TCA383816179PHC1c.2624A>T (p.His875Leu)
c.2489A>T (p.His830Leu)
c.*1474A>T (n.*1474A>T)
c.284-2549A>T (n.284-2549A>T)
c.2600A>T (p.His867Leu)
c.2675A>T (p.His892Leu)
c.2651A>T (p.His884Leu)
c.2525A>T (p.His842Leu)
c.2519A>T (p.His840Leu)
c.2468A>T (p.His823Leu)
c.2501A>T (p.His834Leu)
c.2474A>T (p.His825Leu)
c.2450A>T (p.His817Leu)
12g.8937323C>ACA383816180PHC1c.2625C>A (p.His875Gln)
c.2490C>A (p.His830Gln)
c.*1475C>A (n.*1475C>A)
c.284-2548C>A (n.284-2548C>A)
c.2601C>A (p.His867Gln)
c.2676C>A (p.His892Gln)
c.2652C>A (p.His884Gln)
c.2526C>A (p.His842Gln)
c.2520C>A (p.His840Gln)
c.2469C>A (p.His823Gln)
c.2502C>A (p.His834Gln)
c.2475C>A (p.His825Gln)
c.2451C>A (p.His817Gln)
 gnomAD v4
12g.8937323C>GCA383816181PHC1c.2625C>G (p.His875Gln)
c.2490C>G (p.His830Gln)
c.*1475C>G (n.*1475C>G)
c.284-2548C>G (n.284-2548C>G)
c.2601C>G (p.His867Gln)
c.2676C>G (p.His892Gln)
c.2652C>G (p.His884Gln)
c.2526C>G (p.His842Gln)
c.2520C>G (p.His840Gln)
c.2469C>G (p.His823Gln)
c.2502C>G (p.His834Gln)
c.2475C>G (p.His825Gln)
c.2451C>G (p.His817Gln)
12g.8937323C>TCA478308258PHC1c.2625C>T (p.His875=)
c.2490C>T (p.His830=)
c.*1475C>T (n.*1475C>T)
c.284-2548C>T (n.284-2548C>T)
c.2601C>T (p.His867=)
c.2676C>T (p.His892=)
c.2652C>T (p.His884=)
c.2526C>T (p.His842=)
c.2520C>T (p.His840=)
c.2469C>T (p.His823=)
c.2502C>T (p.His834=)
c.2475C>T (p.His825=)
c.2451C>T (p.His817=)
 gnomAD v4
12g.8937324C>ACA478308264PHC1c.2626C>A (p.Arg876=)
c.2491C>A (p.Arg831=)
c.*1476C>A (n.*1476C>A)
c.284-2547C>A (n.284-2547C>A)
c.2602C>A (p.Arg868=)
c.2677C>A (p.Arg893=)
c.2653C>A (p.Arg885=)
c.2527C>A (p.Arg843=)
c.2521C>A (p.Arg841=)
c.2470C>A (p.Arg824=)
c.2503C>A (p.Arg835=)
c.2476C>A (p.Arg826=)
c.2452C>A (p.Arg818=)
12g.8937324C=CA2015272740PHC1c.2626C= (p.Arg876=)
c.2491C= (p.Arg831=)
c.*1476C= (n.*1476C=)
c.284-2547C= (n.284-2547C=)
c.2602C= (p.Arg868=)
c.2677C= (p.Arg893=)
c.2653C= (p.Arg885=)
c.2527C= (p.Arg843=)
c.2521C= (p.Arg841=)
c.2470C= (p.Arg824=)
c.2503C= (p.Arg835=)
c.2476C= (p.Arg826=)
c.2452C= (p.Arg818=)
12g.8937324C>GCA383816182PHC1c.2626C>G (p.Arg876Gly)
c.2491C>G (p.Arg831Gly)
c.*1476C>G (n.*1476C>G)
c.284-2547C>G (n.284-2547C>G)
c.2602C>G (p.Arg868Gly)
c.2677C>G (p.Arg893Gly)
c.2653C>G (p.Arg885Gly)
c.2527C>G (p.Arg843Gly)
c.2521C>G (p.Arg841Gly)
c.2470C>G (p.Arg824Gly)
c.2503C>G (p.Arg835Gly)
c.2476C>G (p.Arg826Gly)
c.2452C>G (p.Arg818Gly)
12g.8937324C>TCA206566PHC1c.2626C>T (p.Arg876Trp)
c.2491C>T (p.Arg831Trp)
c.*1476C>T (n.*1476C>T)
c.284-2547C>T (n.284-2547C>T)
c.2602C>T (p.Arg868Trp)
c.2677C>T (p.Arg893Trp)
c.2653C>T (p.Arg885Trp)
c.2527C>T (p.Arg843Trp)
c.2521C>T (p.Arg841Trp)
c.2470C>T (p.Arg824Trp)
c.2503C>T (p.Arg835Trp)
c.2476C>T (p.Arg826Trp)
c.2452C>T (p.Arg818Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched