Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.22276130T>ACA379924571ANO5n.468T>A
c.2001T>A (p.Asn667Lys)
c.2409T>A (p.Asn803Lys)
c.2372+1383T>A (n.2372+1383T>A)
n.3445T>A
c.2406T>A (p.Asn802Lys)
c.2451T>A (p.Asn817Lys)
n.2786T>A
c.2448T>A (p.Asn816Lys)
c.2373T>A (p.Asn791Lys)
c.2370T>A (p.Asn790Lys)
c.2358T>A (p.Asn786Lys)
11g.22276130T>CCA473408930ANO5n.468T>C
c.2001T>C (p.Asn667=)
c.2409T>C (p.Asn803=)
c.2372+1383T>C (n.2372+1383T>C)
n.3445T>C
c.2406T>C (p.Asn802=)
c.2451T>C (p.Asn817=)
n.2786T>C
c.2448T>C (p.Asn816=)
c.2373T>C (p.Asn791=)
c.2370T>C (p.Asn790=)
c.2358T>C (p.Asn786=)
11g.22276130T>GCA379924572ANO5n.468T>G
c.2001T>G (p.Asn667Lys)
c.2409T>G (p.Asn803Lys)
c.2372+1383T>G (n.2372+1383T>G)
n.3445T>G
c.2406T>G (p.Asn802Lys)
c.2451T>G (p.Asn817Lys)
n.2786T>G
c.2448T>G (p.Asn816Lys)
c.2373T>G (p.Asn791Lys)
c.2370T>G (p.Asn790Lys)
c.2358T>G (p.Asn786Lys)
11g.22276131A=CA1957408349ANO5n.469A=
c.2002A= (p.Lys668=)
c.2410A= (p.Lys804=)
c.2372+1384A= (n.2372+1384A=)
n.3446A=
c.2407A= (p.Lys803=)
c.2452A= (p.Lys818=)
n.2787A=
c.2449A= (p.Lys817=)
c.2374A= (p.Lys792=)
c.2371A= (p.Lys791=)
c.2359A= (p.Lys787=)
11g.22276131A>CCA379924573ANO5n.469A>C
c.2002A>C (p.Lys668Gln)
c.2410A>C (p.Lys804Gln)
c.2372+1384A>C (n.2372+1384A>C)
n.3446A>C
c.2407A>C (p.Lys803Gln)
c.2452A>C (p.Lys818Gln)
n.2787A>C
c.2449A>C (p.Lys817Gln)
c.2374A>C (p.Lys792Gln)
c.2371A>C (p.Lys791Gln)
c.2359A>C (p.Lys787Gln)
11g.22276131A>GCA379924574ANO5n.469A>G
c.2002A>G (p.Lys668Glu)
c.2410A>G (p.Lys804Glu)
c.2372+1384A>G (n.2372+1384A>G)
n.3446A>G
c.2407A>G (p.Lys803Glu)
c.2452A>G (p.Lys818Glu)
n.2787A>G
c.2449A>G (p.Lys817Glu)
c.2374A>G (p.Lys792Glu)
c.2371A>G (p.Lys791Glu)
c.2359A>G (p.Lys787Glu)
 dbSNP gnomAD v3 gnomAD v4
11g.22276131A>TCA379924575ANO5n.469A>T
c.2002A>T (p.Lys668Ter)
c.2410A>T (p.Lys804Ter)
c.2372+1384A>T (n.2372+1384A>T)
n.3446A>T
c.2407A>T (p.Lys803Ter)
c.2452A>T (p.Lys818Ter)
n.2787A>T
c.2449A>T (p.Lys817Ter)
c.2374A>T (p.Lys792Ter)
c.2371A>T (p.Lys791Ter)
c.2359A>T (p.Lys787Ter)
11g.22276132A>CCA379924578ANO5n.470A>C
c.2003A>C (p.Lys668Thr)
c.2411A>C (p.Lys804Thr)
c.2372+1385A>C (n.2372+1385A>C)
n.3447A>C
c.2408A>C (p.Lys803Thr)
c.2453A>C (p.Lys818Thr)
n.2788A>C
c.2450A>C (p.Lys817Thr)
c.2375A>C (p.Lys792Thr)
c.2372A>C (p.Lys791Thr)
c.2360A>C (p.Lys787Thr)
11g.22276132A>GCA379924576ANO5n.470A>G
c.2003A>G (p.Lys668Arg)
c.2411A>G (p.Lys804Arg)
c.2372+1385A>G (n.2372+1385A>G)
n.3447A>G
c.2408A>G (p.Lys803Arg)
c.2453A>G (p.Lys818Arg)
n.2788A>G
c.2450A>G (p.Lys817Arg)
c.2375A>G (p.Lys792Arg)
c.2372A>G (p.Lys791Arg)
c.2360A>G (p.Lys787Arg)
11g.22276132A>TCA379924577ANO5n.470A>T
c.2003A>T (p.Lys668Ile)
c.2411A>T (p.Lys804Ile)
c.2372+1385A>T (n.2372+1385A>T)
n.3447A>T
c.2408A>T (p.Lys803Ile)
c.2453A>T (p.Lys818Ile)
n.2788A>T
c.2450A>T (p.Lys817Ile)
c.2375A>T (p.Lys792Ile)
c.2372A>T (p.Lys791Ile)
c.2360A>T (p.Lys787Ile)
11g.22276133A=CA1957408351ANO5n.471A=
c.2004A= (p.Lys668=)
c.2412A= (p.Lys804=)
c.2372+1386A= (n.2372+1386A=)
n.3448A=
c.2409A= (p.Lys803=)
c.2454A= (p.Lys818=)
n.2789A=
c.2451A= (p.Lys817=)
c.2376A= (p.Lys792=)
c.2373A= (p.Lys791=)
c.2361A= (p.Lys787=)
11g.22276133A>CCA379924579ANO5n.471A>C
c.2004A>C (p.Lys668Asn)
c.2412A>C (p.Lys804Asn)
c.2372+1386A>C (n.2372+1386A>C)
n.3448A>C
c.2409A>C (p.Lys803Asn)
c.2454A>C (p.Lys818Asn)
n.2789A>C
c.2451A>C (p.Lys817Asn)
c.2376A>C (p.Lys792Asn)
c.2373A>C (p.Lys791Asn)
c.2361A>C (p.Lys787Asn)
11g.22276133A>GCA473408940ANO5n.471A>G
c.2004A>G (p.Lys668=)
c.2412A>G (p.Lys804=)
c.2372+1386A>G (n.2372+1386A>G)
n.3448A>G
c.2409A>G (p.Lys803=)
c.2454A>G (p.Lys818=)
n.2789A>G
c.2451A>G (p.Lys817=)
c.2376A>G (p.Lys792=)
c.2373A>G (p.Lys791=)
c.2361A>G (p.Lys787=)
 dbSNP gnomAD v4
11g.22276133A>TCA379924580ANO5n.471A>T
c.2004A>T (p.Lys668Asn)
c.2412A>T (p.Lys804Asn)
c.2372+1386A>T (n.2372+1386A>T)
n.3448A>T
c.2409A>T (p.Lys803Asn)
c.2454A>T (p.Lys818Asn)
n.2789A>T
c.2451A>T (p.Lys817Asn)
c.2376A>T (p.Lys792Asn)
c.2373A>T (p.Lys791Asn)
c.2361A>T (p.Lys787Asn)
11g.22276134T>ACA379924581ANO5n.472T>A
c.2005T>A (p.Tyr669Asn)
c.2413T>A (p.Tyr805Asn)
c.2372+1387T>A (n.2372+1387T>A)
n.3449T>A
c.2410T>A (p.Tyr804Asn)
c.2455T>A (p.Tyr819Asn)
n.2790T>A
c.2452T>A (p.Tyr818Asn)
c.2377T>A (p.Tyr793Asn)
c.2374T>A (p.Tyr792Asn)
c.2362T>A (p.Tyr788Asn)
11g.22276134T>CCA379924582ANO5n.472T>C
c.2005T>C (p.Tyr669His)
c.2413T>C (p.Tyr805His)
c.2372+1387T>C (n.2372+1387T>C)
n.3449T>C
c.2410T>C (p.Tyr804His)
c.2455T>C (p.Tyr819His)
n.2790T>C
c.2452T>C (p.Tyr818His)
c.2377T>C (p.Tyr793His)
c.2374T>C (p.Tyr792His)
c.2362T>C (p.Tyr788His)
 ClinVar dbSNP gnomAD v4
11g.22276134T>GCA379924583ANO5n.472T>G
c.2005T>G (p.Tyr669Asp)
c.2413T>G (p.Tyr805Asp)
c.2372+1387T>G (n.2372+1387T>G)
n.3449T>G
c.2410T>G (p.Tyr804Asp)
c.2455T>G (p.Tyr819Asp)
n.2790T>G
c.2452T>G (p.Tyr818Asp)
c.2377T>G (p.Tyr793Asp)
c.2374T>G (p.Tyr792Asp)
c.2362T>G (p.Tyr788Asp)
11g.22276134T=CA1957408355ANO5n.472T=
c.2005T= (p.Tyr669=)
c.2413T= (p.Tyr805=)
c.2372+1387T= (n.2372+1387T=)
n.3449T=
c.2410T= (p.Tyr804=)
c.2455T= (p.Tyr819=)
n.2790T=
c.2452T= (p.Tyr818=)
c.2377T= (p.Tyr793=)
c.2374T= (p.Tyr792=)
c.2362T= (p.Tyr788=)
11g.22276135A=CA1957408361ANO5n.473A=
c.2006A= (p.Tyr669=)
c.2414A= (p.Tyr805=)
c.2372+1388A= (n.2372+1388A=)
n.3450A=
c.2411A= (p.Tyr804=)
c.2456A= (p.Tyr819=)
n.2791A=
c.2453A= (p.Tyr818=)
c.2378A= (p.Tyr793=)
c.2375A= (p.Tyr792=)
c.2363A= (p.Tyr788=)
11g.22276135A>CCA379924584ANO5n.473A>C
c.2006A>C (p.Tyr669Ser)
c.2414A>C (p.Tyr805Ser)
c.2372+1388A>C (n.2372+1388A>C)
n.3450A>C
c.2411A>C (p.Tyr804Ser)
c.2456A>C (p.Tyr819Ser)
n.2791A>C
c.2453A>C (p.Tyr818Ser)
c.2378A>C (p.Tyr793Ser)
c.2375A>C (p.Tyr792Ser)
c.2363A>C (p.Tyr788Ser)
11g.22276135A>GCA379924585ANO5n.473A>G
c.2006A>G (p.Tyr669Cys)
c.2414A>G (p.Tyr805Cys)
c.2372+1388A>G (n.2372+1388A>G)
n.3450A>G
c.2411A>G (p.Tyr804Cys)
c.2456A>G (p.Tyr819Cys)
n.2791A>G
c.2453A>G (p.Tyr818Cys)
c.2378A>G (p.Tyr793Cys)
c.2375A>G (p.Tyr792Cys)
c.2363A>G (p.Tyr788Cys)
 ClinVar dbSNP gnomAD v4
11g.22276135A>TCA379924586ANO5n.473A>T
c.2006A>T (p.Tyr669Phe)
c.2414A>T (p.Tyr805Phe)
c.2372+1388A>T (n.2372+1388A>T)
n.3450A>T
c.2411A>T (p.Tyr804Phe)
c.2456A>T (p.Tyr819Phe)
n.2791A>T
c.2453A>T (p.Tyr818Phe)
c.2378A>T (p.Tyr793Phe)
c.2375A>T (p.Tyr792Phe)
c.2363A>T (p.Tyr788Phe)
11g.22276136T>ACA379924587ANO5n.474T>A
c.2007T>A (p.Tyr669Ter)
c.2415T>A (p.Tyr805Ter)
c.2372+1389T>A (n.2372+1389T>A)
n.3451T>A
c.2412T>A (p.Tyr804Ter)
c.2457T>A (p.Tyr819Ter)
n.2792T>A
c.2454T>A (p.Tyr818Ter)
c.2379T>A (p.Tyr793Ter)
c.2376T>A (p.Tyr792Ter)
c.2364T>A (p.Tyr788Ter)
11g.22276136T>CCA473408949ANO5n.474T>C
c.2007T>C (p.Tyr669=)
c.2415T>C (p.Tyr805=)
c.2372+1389T>C (n.2372+1389T>C)
n.3451T>C
c.2412T>C (p.Tyr804=)
c.2457T>C (p.Tyr819=)
n.2792T>C
c.2454T>C (p.Tyr818=)
c.2379T>C (p.Tyr793=)
c.2376T>C (p.Tyr792=)
c.2364T>C (p.Tyr788=)
11g.22276136T>GCA379924588ANO5n.474T>G
c.2007T>G (p.Tyr669Ter)
c.2415T>G (p.Tyr805Ter)
c.2372+1389T>G (n.2372+1389T>G)
n.3451T>G
c.2412T>G (p.Tyr804Ter)
c.2457T>G (p.Tyr819Ter)
n.2792T>G
c.2454T>G (p.Tyr818Ter)
c.2379T>G (p.Tyr793Ter)
c.2376T>G (p.Tyr792Ter)
c.2364T>G (p.Tyr788Ter)
11g.22276139delCA2574781698ANO5n.477del
c.2010del (p.His671IlefsTer13)
c.2418del (p.His807IlefsTer13)
c.2372+1392del (n.2372+1392del)
n.3454del
c.2415del (p.His806IlefsTer13)
c.2460del (p.His821IlefsTer13)
n.2795del
c.2457del (p.His820IlefsTer13)
c.2382del (p.His795IlefsTer13)
c.2379del (p.His794IlefsTer13)
c.2367del (p.His790IlefsTer13)
11g.22276137T>ACA379924589ANO5n.475T>A
c.2008T>A (p.Phe670Ile)
c.2416T>A (p.Phe806Ile)
c.2372+1390T>A (n.2372+1390T>A)
n.3452T>A
c.2413T>A (p.Phe805Ile)
c.2458T>A (p.Phe820Ile)
n.2793T>A
c.2455T>A (p.Phe819Ile)
c.2380T>A (p.Phe794Ile)
c.2377T>A (p.Phe793Ile)
c.2365T>A (p.Phe789Ile)
11g.22276137T>CCA5923590ANO5n.475T>C
c.2008T>C (p.Phe670Leu)
c.2416T>C (p.Phe806Leu)
c.2372+1390T>C (n.2372+1390T>C)
n.3452T>C
c.2413T>C (p.Phe805Leu)
c.2458T>C (p.Phe820Leu)
n.2793T>C
c.2455T>C (p.Phe819Leu)
c.2380T>C (p.Phe794Leu)
c.2377T>C (p.Phe793Leu)
c.2365T>C (p.Phe789Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22276137T>GCA379924590ANO5n.475T>G
c.2008T>G (p.Phe670Val)
c.2416T>G (p.Phe806Val)
c.2372+1390T>G (n.2372+1390T>G)
n.3452T>G
c.2413T>G (p.Phe805Val)
c.2458T>G (p.Phe820Val)
n.2793T>G
c.2455T>G (p.Phe819Val)
c.2380T>G (p.Phe794Val)
c.2377T>G (p.Phe793Val)
c.2365T>G (p.Phe789Val)
11g.22276137T=CA1957408374ANO5n.475T=
c.2008T= (p.Phe670=)
c.2416T= (p.Phe806=)
c.2372+1390T= (n.2372+1390T=)
n.3452T=
c.2413T= (p.Phe805=)
c.2458T= (p.Phe820=)
n.2793T=
c.2455T= (p.Phe819=)
c.2380T= (p.Phe794=)
c.2377T= (p.Phe793=)
c.2365T= (p.Phe789=)
11g.22276138T>ACA379924593ANO5n.476T>A
c.2009T>A (p.Phe670Tyr)
c.2417T>A (p.Phe806Tyr)
c.2372+1391T>A (n.2372+1391T>A)
n.3453T>A
c.2414T>A (p.Phe805Tyr)
c.2459T>A (p.Phe820Tyr)
n.2794T>A
c.2456T>A (p.Phe819Tyr)
c.2381T>A (p.Phe794Tyr)
c.2378T>A (p.Phe793Tyr)
c.2366T>A (p.Phe789Tyr)
11g.22276138T>CCA379924592ANO5n.476T>C
c.2009T>C (p.Phe670Ser)
c.2417T>C (p.Phe806Ser)
c.2372+1391T>C (n.2372+1391T>C)
n.3453T>C
c.2414T>C (p.Phe805Ser)
c.2459T>C (p.Phe820Ser)
n.2794T>C
c.2456T>C (p.Phe819Ser)
c.2381T>C (p.Phe794Ser)
c.2378T>C (p.Phe793Ser)
c.2366T>C (p.Phe789Ser)
11g.22276138T>GCA379924591ANO5n.476T>G
c.2009T>G (p.Phe670Cys)
c.2417T>G (p.Phe806Cys)
c.2372+1391T>G (n.2372+1391T>G)
n.3453T>G
c.2414T>G (p.Phe805Cys)
c.2459T>G (p.Phe820Cys)
n.2794T>G
c.2456T>G (p.Phe819Cys)
c.2381T>G (p.Phe794Cys)
c.2378T>G (p.Phe793Cys)
c.2366T>G (p.Phe789Cys)
11g.22276139T>ACA379924594ANO5n.477T>A
c.2010T>A (p.Phe670Leu)
c.2418T>A (p.Phe806Leu)
c.2372+1392T>A (n.2372+1392T>A)
n.3454T>A
c.2415T>A (p.Phe805Leu)
c.2460T>A (p.Phe820Leu)
n.2795T>A
c.2457T>A (p.Phe819Leu)
c.2382T>A (p.Phe794Leu)
c.2379T>A (p.Phe793Leu)
c.2367T>A (p.Phe789Leu)
11g.22276139T>CCA473408959ANO5n.477T>C
c.2010T>C (p.Phe670=)
c.2418T>C (p.Phe806=)
c.2372+1392T>C (n.2372+1392T>C)
n.3454T>C
c.2415T>C (p.Phe805=)
c.2460T>C (p.Phe820=)
n.2795T>C
c.2457T>C (p.Phe819=)
c.2382T>C (p.Phe794=)
c.2379T>C (p.Phe793=)
c.2367T>C (p.Phe789=)
11g.22276139T>GCA379924595ANO5n.477T>G
c.2010T>G (p.Phe670Leu)
c.2418T>G (p.Phe806Leu)
c.2372+1392T>G (n.2372+1392T>G)
n.3454T>G
c.2415T>G (p.Phe805Leu)
c.2460T>G (p.Phe820Leu)
n.2795T>G
c.2457T>G (p.Phe819Leu)
c.2382T>G (p.Phe794Leu)
c.2379T>G (p.Phe793Leu)
c.2367T>G (p.Phe789Leu)
11g.22276140C>ACA379924596ANO5n.478C>A
c.2011C>A (p.His671Asn)
c.2419C>A (p.His807Asn)
c.2372+1393C>A (n.2372+1393C>A)
n.3455C>A
c.2416C>A (p.His806Asn)
c.2461C>A (p.His821Asn)
n.2796C>A
c.2458C>A (p.His820Asn)
c.2383C>A (p.His795Asn)
c.2380C>A (p.His794Asn)
c.2368C>A (p.His790Asn)
11g.22276140C>GCA379924597ANO5n.478C>G
c.2011C>G (p.His671Asp)
c.2419C>G (p.His807Asp)
c.2372+1393C>G (n.2372+1393C>G)
n.3455C>G
c.2416C>G (p.His806Asp)
c.2461C>G (p.His821Asp)
n.2796C>G
c.2458C>G (p.His820Asp)
c.2383C>G (p.His795Asp)
c.2380C>G (p.His794Asp)
c.2368C>G (p.His790Asp)
11g.22276140C>TCA379924598ANO5n.478C>T
c.2011C>T (p.His671Tyr)
c.2419C>T (p.His807Tyr)
c.2372+1393C>T (n.2372+1393C>T)
n.3455C>T
c.2416C>T (p.His806Tyr)
c.2461C>T (p.His821Tyr)
n.2796C>T
c.2458C>T (p.His820Tyr)
c.2383C>T (p.His795Tyr)
c.2380C>T (p.His794Tyr)
c.2368C>T (p.His790Tyr)
 ClinVar gnomAD v4
11g.22276141A=CA1957408379ANO5n.479A=
c.2012A= (p.His671=)
c.2420A= (p.His807=)
c.2372+1394A= (n.2372+1394A=)
n.3456A=
c.2417A= (p.His806=)
c.2462A= (p.His821=)
n.2797A=
c.2459A= (p.His820=)
c.2384A= (p.His795=)
c.2381A= (p.His794=)
c.2369A= (p.His790=)
11g.22276141A>CCA379924599ANO5n.479A>C
c.2012A>C (p.His671Pro)
c.2420A>C (p.His807Pro)
c.2372+1394A>C (n.2372+1394A>C)
n.3456A>C
c.2417A>C (p.His806Pro)
c.2462A>C (p.His821Pro)
n.2797A>C
c.2459A>C (p.His820Pro)
c.2384A>C (p.His795Pro)
c.2381A>C (p.His794Pro)
c.2369A>C (p.His790Pro)
 dbSNP gnomAD v2 gnomAD v4
11g.22276141A>GCA5923591ANO5n.479A>G
c.2012A>G (p.His671Arg)
c.2420A>G (p.His807Arg)
c.2372+1394A>G (n.2372+1394A>G)
n.3456A>G
c.2417A>G (p.His806Arg)
c.2462A>G (p.His821Arg)
n.2797A>G
c.2459A>G (p.His820Arg)
c.2384A>G (p.His795Arg)
c.2381A>G (p.His794Arg)
c.2369A>G (p.His790Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.22276141A>TCA379924600ANO5n.479A>T
c.2012A>T (p.His671Leu)
c.2420A>T (p.His807Leu)
c.2372+1394A>T (n.2372+1394A>T)
n.3456A>T
c.2417A>T (p.His806Leu)
c.2462A>T (p.His821Leu)
n.2797A>T
c.2459A>T (p.His820Leu)
c.2384A>T (p.His795Leu)
c.2381A>T (p.His794Leu)
c.2369A>T (p.His790Leu)
11g.22276142T>ACA379924601ANO5n.480T>A
c.2013T>A (p.His671Gln)
c.2421T>A (p.His807Gln)
c.2372+1395T>A (n.2372+1395T>A)
n.3457T>A
c.2418T>A (p.His806Gln)
c.2463T>A (p.His821Gln)
n.2798T>A
c.2460T>A (p.His820Gln)
c.2385T>A (p.His795Gln)
c.2382T>A (p.His794Gln)
c.2370T>A (p.His790Gln)
 gnomAD v4
11g.22276142T>CCA473408969ANO5n.480T>C
c.2013T>C (p.His671=)
c.2421T>C (p.His807=)
c.2372+1395T>C (n.2372+1395T>C)
n.3457T>C
c.2418T>C (p.His806=)
c.2463T>C (p.His821=)
n.2798T>C
c.2460T>C (p.His820=)
c.2385T>C (p.His795=)
c.2382T>C (p.His794=)
c.2370T>C (p.His790=)
11g.22276142T>GCA379924602ANO5n.480T>G
c.2013T>G (p.His671Gln)
c.2421T>G (p.His807Gln)
c.2372+1395T>G (n.2372+1395T>G)
n.3457T>G
c.2418T>G (p.His806Gln)
c.2463T>G (p.His821Gln)
n.2798T>G
c.2460T>G (p.His820Gln)
c.2385T>G (p.His795Gln)
c.2382T>G (p.His794Gln)
c.2370T>G (p.His790Gln)
 dbSNP
11g.22276142T=CA1957408387ANO5n.480T=
c.2013T= (p.His671=)
c.2421T= (p.His807=)
c.2372+1395T= (n.2372+1395T=)
n.3457T=
c.2418T= (p.His806=)
c.2463T= (p.His821=)
n.2798T=
c.2460T= (p.His820=)
c.2385T= (p.His795=)
c.2382T= (p.His794=)
c.2370T= (p.His790=)
11g.22276143A>CCA379924603ANO5n.481A>C
c.2014A>C (p.Asn672His)
c.2422A>C (p.Asn808His)
c.2372+1396A>C (n.2372+1396A>C)
n.3458A>C
c.2419A>C (p.Asn807His)
c.2464A>C (p.Asn822His)
n.2799A>C
c.2461A>C (p.Asn821His)
c.2386A>C (p.Asn796His)
c.2383A>C (p.Asn795His)
c.2371A>C (p.Asn791His)
 gnomAD v4
11g.22276143A>GCA379924604ANO5n.481A>G
c.2014A>G (p.Asn672Asp)
c.2422A>G (p.Asn808Asp)
c.2372+1396A>G (n.2372+1396A>G)
n.3458A>G
c.2419A>G (p.Asn807Asp)
c.2464A>G (p.Asn822Asp)
n.2799A>G
c.2461A>G (p.Asn821Asp)
c.2386A>G (p.Asn796Asp)
c.2383A>G (p.Asn795Asp)
c.2371A>G (p.Asn791Asp)
11g.22276143A>TCA379924605ANO5n.481A>T
c.2014A>T (p.Asn672Tyr)
c.2422A>T (p.Asn808Tyr)
c.2372+1396A>T (n.2372+1396A>T)
n.3458A>T
c.2419A>T (p.Asn807Tyr)
c.2464A>T (p.Asn822Tyr)
n.2799A>T
c.2461A>T (p.Asn821Tyr)
c.2386A>T (p.Asn796Tyr)
c.2383A>T (p.Asn795Tyr)
c.2371A>T (p.Asn791Tyr)
11g.22276144A>CCA379924608ANO5n.482A>C
c.2015A>C (p.Asn672Thr)
c.2423A>C (p.Asn808Thr)
c.2372+1397A>C (n.2372+1397A>C)
n.3459A>C
c.2420A>C (p.Asn807Thr)
c.2465A>C (p.Asn822Thr)
n.2800A>C
c.2462A>C (p.Asn821Thr)
c.2387A>C (p.Asn796Thr)
c.2384A>C (p.Asn795Thr)
c.2372A>C (p.Asn791Thr)
11g.22276144A>GCA379924607ANO5n.482A>G
c.2015A>G (p.Asn672Ser)
c.2423A>G (p.Asn808Ser)
c.2372+1397A>G (n.2372+1397A>G)
n.3459A>G
c.2420A>G (p.Asn807Ser)
c.2465A>G (p.Asn822Ser)
n.2800A>G
c.2462A>G (p.Asn821Ser)
c.2387A>G (p.Asn796Ser)
c.2384A>G (p.Asn795Ser)
c.2372A>G (p.Asn791Ser)
11g.22276144A>TCA379924606ANO5n.482A>T
c.2015A>T (p.Asn672Ile)
c.2423A>T (p.Asn808Ile)
c.2372+1397A>T (n.2372+1397A>T)
n.3459A>T
c.2420A>T (p.Asn807Ile)
c.2465A>T (p.Asn822Ile)
n.2800A>T
c.2462A>T (p.Asn821Ile)
c.2387A>T (p.Asn796Ile)
c.2384A>T (p.Asn795Ile)
c.2372A>T (p.Asn791Ile)
11g.22276145T>ACA379924610ANO5n.483T>A
c.2016T>A (p.Asn672Lys)
c.2424T>A (p.Asn808Lys)
c.2372+1398T>A (n.2372+1398T>A)
n.3460T>A
c.2421T>A (p.Asn807Lys)
c.2466T>A (p.Asn822Lys)
n.2801T>A
c.2463T>A (p.Asn821Lys)
c.2388T>A (p.Asn796Lys)
c.2385T>A (p.Asn795Lys)
c.2373T>A (p.Asn791Lys)
11g.22276145T>CCA473408979ANO5n.483T>C
c.2016T>C (p.Asn672=)
c.2424T>C (p.Asn808=)
c.2372+1398T>C (n.2372+1398T>C)
n.3460T>C
c.2421T>C (p.Asn807=)
c.2466T>C (p.Asn822=)
n.2801T>C
c.2463T>C (p.Asn821=)
c.2388T>C (p.Asn796=)
c.2385T>C (p.Asn795=)
c.2373T>C (p.Asn791=)
 dbSNP gnomAD v4
11g.22276145T>GCA379924609ANO5n.483T>G
c.2016T>G (p.Asn672Lys)
c.2424T>G (p.Asn808Lys)
c.2372+1398T>G (n.2372+1398T>G)
n.3460T>G
c.2421T>G (p.Asn807Lys)
c.2466T>G (p.Asn822Lys)
n.2801T>G
c.2463T>G (p.Asn821Lys)
c.2388T>G (p.Asn796Lys)
c.2385T>G (p.Asn795Lys)
c.2373T>G (p.Asn791Lys)
11g.22276145T=CA1957408392ANO5n.483T=
c.2016T= (p.Asn672=)
c.2424T= (p.Asn808=)
c.2372+1398T= (n.2372+1398T=)
n.3460T=
c.2421T= (p.Asn807=)
c.2466T= (p.Asn822=)
n.2801T=
c.2463T= (p.Asn821=)
c.2388T= (p.Asn796=)
c.2385T= (p.Asn795=)
c.2373T= (p.Asn791=)
11g.22276146A>CCA379924611ANO5n.484A>C
c.2017A>C (p.Met673Leu)
c.2425A>C (p.Met809Leu)
c.2372+1399A>C (n.2372+1399A>C)
n.3461A>C
c.2422A>C (p.Met808Leu)
c.2467A>C (p.Met823Leu)
n.2802A>C
c.2464A>C (p.Met822Leu)
c.2389A>C (p.Met797Leu)
c.2386A>C (p.Met796Leu)
c.2374A>C (p.Met792Leu)
11g.22276146A>GCA379924612ANO5n.484A>G
c.2017A>G (p.Met673Val)
c.2425A>G (p.Met809Val)
c.2372+1399A>G (n.2372+1399A>G)
n.3461A>G
c.2422A>G (p.Met808Val)
c.2467A>G (p.Met823Val)
n.2802A>G
c.2464A>G (p.Met822Val)
c.2389A>G (p.Met797Val)
c.2386A>G (p.Met796Val)
c.2374A>G (p.Met792Val)
11g.22276146A>TCA379924613ANO5n.484A>T
c.2017A>T (p.Met673Leu)
c.2425A>T (p.Met809Leu)
c.2372+1399A>T (n.2372+1399A>T)
n.3461A>T
c.2422A>T (p.Met808Leu)
c.2467A>T (p.Met823Leu)
n.2802A>T
c.2464A>T (p.Met822Leu)
c.2389A>T (p.Met797Leu)
c.2386A>T (p.Met796Leu)
c.2374A>T (p.Met792Leu)
11g.22276147T>ACA379924614ANO5n.485T>A
c.2018T>A (p.Met673Lys)
c.2426T>A (p.Met809Lys)
c.2372+1400T>A (n.2372+1400T>A)
n.3462T>A
c.2423T>A (p.Met808Lys)
c.2468T>A (p.Met823Lys)
n.2803T>A
c.2465T>A (p.Met822Lys)
c.2390T>A (p.Met797Lys)
c.2387T>A (p.Met796Lys)
c.2375T>A (p.Met792Lys)
11g.22276147T>CCA379924615ANO5n.485T>C
c.2018T>C (p.Met673Thr)
c.2426T>C (p.Met809Thr)
c.2372+1400T>C (n.2372+1400T>C)
n.3462T>C
c.2423T>C (p.Met808Thr)
c.2468T>C (p.Met823Thr)
n.2803T>C
c.2465T>C (p.Met822Thr)
c.2390T>C (p.Met797Thr)
c.2387T>C (p.Met796Thr)
c.2375T>C (p.Met792Thr)
11g.22276147T>GCA379924616ANO5n.485T>G
c.2018T>G (p.Met673Arg)
c.2426T>G (p.Met809Arg)
c.2372+1400T>G (n.2372+1400T>G)
n.3462T>G
c.2423T>G (p.Met808Arg)
c.2468T>G (p.Met823Arg)
n.2803T>G
c.2465T>G (p.Met822Arg)
c.2390T>G (p.Met797Arg)
c.2387T>G (p.Met796Arg)
c.2375T>G (p.Met792Arg)
11g.22276148G>ACA379924617ANO5n.486G>A
c.2019G>A (p.Met673Ile)
c.2427G>A (p.Met809Ile)
c.2372+1401G>A (n.2372+1401G>A)
n.3463G>A
c.2424G>A (p.Met808Ile)
c.2469G>A (p.Met823Ile)
n.2804G>A
c.2466G>A (p.Met822Ile)
c.2391G>A (p.Met797Ile)
c.2388G>A (p.Met796Ile)
c.2376G>A (p.Met792Ile)
11g.22276148G>CCA379924619ANO5n.486G>C
c.2019G>C (p.Met673Ile)
c.2427G>C (p.Met809Ile)
c.2372+1401G>C (n.2372+1401G>C)
n.3463G>C
c.2424G>C (p.Met808Ile)
c.2469G>C (p.Met823Ile)
n.2804G>C
c.2466G>C (p.Met822Ile)
c.2391G>C (p.Met797Ile)
c.2388G>C (p.Met796Ile)
c.2376G>C (p.Met792Ile)
11g.22276148G>TCA379924618ANO5n.486G>T
c.2019G>T (p.Met673Ile)
c.2427G>T (p.Met809Ile)
c.2372+1401G>T (n.2372+1401G>T)
n.3463G>T
c.2424G>T (p.Met808Ile)
c.2469G>T (p.Met823Ile)
n.2804G>T
c.2466G>T (p.Met822Ile)
c.2391G>T (p.Met797Ile)
c.2388G>T (p.Met796Ile)
c.2376G>T (p.Met792Ile)
11g.22276148_22276149delinsGCCA1957408394ANO5n.486_487delinsGC
c.2019_2020delinsGC (p.Met673=)
c.2427_2428delinsGC (p.Met809=)
c.2372+1401_2372+1402delinsGC (n.2372+1401_2372+1402delinsGC)
n.3463_3464delinsGC
c.2424_2425delinsGC (p.Met808=)
c.2469_2470delinsGC (p.Met823=)
n.2804_2805delinsGC
c.2466_2467delinsGC (p.Met822=)
c.2391_2392delinsGC (p.Met797=)
c.2388_2389delinsGC (p.Met796=)
c.2376_2377delinsGC (p.Met792=)
11g.22276149delCA5923592ANO5n.487del
c.2020del (p.Gln674AsnfsTer10)
c.2428del (p.Gln810AsnfsTer10)
c.2372+1402del (n.2372+1402del)
n.3464del
c.2425del (p.Gln809AsnfsTer10)
c.2470del (p.Gln824AsnfsTer10)
n.2805del
c.2467del (p.Gln823AsnfsTer10)
c.2392del (p.Gln798AsnfsTer10)
c.2389del (p.Gln797AsnfsTer10)
c.2377del (p.Gln793AsnfsTer10)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22276149C>ACA379924620ANO5n.487C>A
c.2020C>A (p.Gln674Lys)
c.2428C>A (p.Gln810Lys)
c.2372+1402C>A (n.2372+1402C>A)
n.3464C>A
c.2425C>A (p.Gln809Lys)
c.2470C>A (p.Gln824Lys)
n.2805C>A
c.2467C>A (p.Gln823Lys)
c.2392C>A (p.Gln798Lys)
c.2389C>A (p.Gln797Lys)
c.2377C>A (p.Gln793Lys)
11g.22276149C>GCA379924621ANO5n.487C>G
c.2020C>G (p.Gln674Glu)
c.2428C>G (p.Gln810Glu)
c.2372+1402C>G (n.2372+1402C>G)
n.3464C>G
c.2425C>G (p.Gln809Glu)
c.2470C>G (p.Gln824Glu)
n.2805C>G
c.2467C>G (p.Gln823Glu)
c.2392C>G (p.Gln798Glu)
c.2389C>G (p.Gln797Glu)
c.2377C>G (p.Gln793Glu)
11g.22276149C>TCA379924622ANO5n.487C>T
c.2020C>T (p.Gln674Ter)
c.2428C>T (p.Gln810Ter)
c.2372+1402C>T (n.2372+1402C>T)
n.3464C>T
c.2425C>T (p.Gln809Ter)
c.2470C>T (p.Gln824Ter)
n.2805C>T
c.2467C>T (p.Gln823Ter)
c.2392C>T (p.Gln798Ter)
c.2389C>T (p.Gln797Ter)
c.2377C>T (p.Gln793Ter)
 ClinVar dbSNP
11g.22276150A>CCA379924623ANO5n.488A>C
c.2021A>C (p.Gln674Pro)
c.2429A>C (p.Gln810Pro)
c.2372+1403A>C (n.2372+1403A>C)
n.3465A>C
c.2426A>C (p.Gln809Pro)
c.2471A>C (p.Gln824Pro)
n.2806A>C
c.2468A>C (p.Gln823Pro)
c.2393A>C (p.Gln798Pro)
c.2390A>C (p.Gln797Pro)
c.2378A>C (p.Gln793Pro)
11g.22276150A>GCA379924625ANO5n.488A>G
c.2021A>G (p.Gln674Arg)
c.2429A>G (p.Gln810Arg)
c.2372+1403A>G (n.2372+1403A>G)
n.3465A>G
c.2426A>G (p.Gln809Arg)
c.2471A>G (p.Gln824Arg)
n.2806A>G
c.2468A>G (p.Gln823Arg)
c.2393A>G (p.Gln798Arg)
c.2390A>G (p.Gln797Arg)
c.2378A>G (p.Gln793Arg)
11g.22276150A>TCA379924624ANO5n.488A>T
c.2021A>T (p.Gln674Leu)
c.2429A>T (p.Gln810Leu)
c.2372+1403A>T (n.2372+1403A>T)
n.3465A>T
c.2426A>T (p.Gln809Leu)
c.2471A>T (p.Gln824Leu)
n.2806A>T
c.2468A>T (p.Gln823Leu)
c.2393A>T (p.Gln798Leu)
c.2390A>T (p.Gln797Leu)
c.2378A>T (p.Gln793Leu)
11g.22276151A=CA1957408400ANO5n.489A=
c.2022A= (p.Gln674=)
c.2430A= (p.Gln810=)
c.2372+1404A= (n.2372+1404A=)
n.3466A=
c.2427A= (p.Gln809=)
c.2472A= (p.Gln824=)
n.2807A=
c.2469A= (p.Gln823=)
c.2394A= (p.Gln798=)
c.2391A= (p.Gln797=)
c.2379A= (p.Gln793=)
11g.22276151A>CCA379924626ANO5n.489A>C
c.2022A>C (p.Gln674His)
c.2430A>C (p.Gln810His)
c.2372+1404A>C (n.2372+1404A>C)
n.3466A>C
c.2427A>C (p.Gln809His)
c.2472A>C (p.Gln824His)
n.2807A>C
c.2469A>C (p.Gln823His)
c.2394A>C (p.Gln798His)
c.2391A>C (p.Gln797His)
c.2379A>C (p.Gln793His)
11g.22276151A>GCA5923593ANO5n.489A>G
c.2022A>G (p.Gln674=)
c.2430A>G (p.Gln810=)
c.2372+1404A>G (n.2372+1404A>G)
n.3466A>G
c.2427A>G (p.Gln809=)
c.2472A>G (p.Gln824=)
n.2807A>G
c.2469A>G (p.Gln823=)
c.2394A>G (p.Gln798=)
c.2391A>G (p.Gln797=)
c.2379A>G (p.Gln793=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22276151A>TCA379924627ANO5n.489A>T
c.2022A>T (p.Gln674His)
c.2430A>T (p.Gln810His)
c.2372+1404A>T (n.2372+1404A>T)
n.3466A>T
c.2427A>T (p.Gln809His)
c.2472A>T (p.Gln824His)
n.2807A>T
c.2469A>T (p.Gln823His)
c.2394A>T (p.Gln798His)
c.2391A>T (p.Gln797His)
c.2379A>T (p.Gln793His)
11g.22276152T>ACA379924628ANO5n.490T>A
c.2023T>A (p.Phe675Ile)
c.2431T>A (p.Phe811Ile)
c.2372+1405T>A (n.2372+1405T>A)
n.3467T>A
c.2428T>A (p.Phe810Ile)
c.2473T>A (p.Phe825Ile)
n.2808T>A
c.2470T>A (p.Phe824Ile)
c.2395T>A (p.Phe799Ile)
c.2392T>A (p.Phe798Ile)
c.2380T>A (p.Phe794Ile)
11g.22276152T>CCA379924629ANO5n.490T>C
c.2023T>C (p.Phe675Leu)
c.2431T>C (p.Phe811Leu)
c.2372+1405T>C (n.2372+1405T>C)
n.3467T>C
c.2428T>C (p.Phe810Leu)
c.2473T>C (p.Phe825Leu)
n.2808T>C
c.2470T>C (p.Phe824Leu)
c.2395T>C (p.Phe799Leu)
c.2392T>C (p.Phe798Leu)
c.2380T>C (p.Phe794Leu)
 dbSNP gnomAD v4
11g.22276152T>GCA379924630ANO5n.490T>G
c.2023T>G (p.Phe675Val)
c.2431T>G (p.Phe811Val)
c.2372+1405T>G (n.2372+1405T>G)
n.3467T>G
c.2428T>G (p.Phe810Val)
c.2473T>G (p.Phe825Val)
n.2808T>G
c.2470T>G (p.Phe824Val)
c.2395T>G (p.Phe799Val)
c.2392T>G (p.Phe798Val)
c.2380T>G (p.Phe794Val)
11g.22276152T=CA1957408406ANO5n.490T=
c.2023T= (p.Phe675=)
c.2431T= (p.Phe811=)
c.2372+1405T= (n.2372+1405T=)
n.3467T=
c.2428T= (p.Phe810=)
c.2473T= (p.Phe825=)
n.2808T=
c.2470T= (p.Phe824=)
c.2395T= (p.Phe799=)
c.2392T= (p.Phe798=)
c.2380T= (p.Phe794=)
11g.22276153T>ACA379924631ANO5n.491T>A
c.2024T>A (p.Phe675Tyr)
c.2432T>A (p.Phe811Tyr)
c.2372+1406T>A (n.2372+1406T>A)
n.3468T>A
c.2429T>A (p.Phe810Tyr)
c.2474T>A (p.Phe825Tyr)
n.2809T>A
c.2471T>A (p.Phe824Tyr)
c.2396T>A (p.Phe799Tyr)
c.2393T>A (p.Phe798Tyr)
c.2381T>A (p.Phe794Tyr)
11g.22276153T>CCA379924632ANO5n.491T>C
c.2024T>C (p.Phe675Ser)
c.2432T>C (p.Phe811Ser)
c.2372+1406T>C (n.2372+1406T>C)
n.3468T>C
c.2429T>C (p.Phe810Ser)
c.2474T>C (p.Phe825Ser)
n.2809T>C
c.2471T>C (p.Phe824Ser)
c.2396T>C (p.Phe799Ser)
c.2393T>C (p.Phe798Ser)
c.2381T>C (p.Phe794Ser)
 dbSNP gnomAD v3 gnomAD v4
11g.22276153T>GCA218777838ANO5n.491T>G
c.2024T>G (p.Phe675Cys)
c.2432T>G (p.Phe811Cys)
c.2372+1406T>G (n.2372+1406T>G)
n.3468T>G
c.2429T>G (p.Phe810Cys)
c.2474T>G (p.Phe825Cys)
n.2809T>G
c.2471T>G (p.Phe824Cys)
c.2396T>G (p.Phe799Cys)
c.2393T>G (p.Phe798Cys)
c.2381T>G (p.Phe794Cys)
 dbSNP gnomAD v4
11g.22276153T=CA1957408409ANO5n.491T=
c.2024T= (p.Phe675=)
c.2432T= (p.Phe811=)
c.2372+1406T= (n.2372+1406T=)
n.3468T=
c.2429T= (p.Phe810=)
c.2474T= (p.Phe825=)
n.2809T=
c.2471T= (p.Phe824=)
c.2396T= (p.Phe799=)
c.2393T= (p.Phe798=)
c.2381T= (p.Phe794=)
11g.22276154C>ACA379924633ANO5n.492C>A
c.2025C>A (p.Phe675Leu)
c.2433C>A (p.Phe811Leu)
c.2372+1407C>A (n.2372+1407C>A)
n.3469C>A
c.2430C>A (p.Phe810Leu)
c.2475C>A (p.Phe825Leu)
n.2810C>A
c.2472C>A (p.Phe824Leu)
c.2397C>A (p.Phe799Leu)
c.2394C>A (p.Phe798Leu)
c.2382C>A (p.Phe794Leu)
11g.22276154C>GCA379924634ANO5n.492C>G
c.2025C>G (p.Phe675Leu)
c.2433C>G (p.Phe811Leu)
c.2372+1407C>G (n.2372+1407C>G)
n.3469C>G
c.2430C>G (p.Phe810Leu)
c.2475C>G (p.Phe825Leu)
n.2810C>G
c.2472C>G (p.Phe824Leu)
c.2397C>G (p.Phe799Leu)
c.2394C>G (p.Phe798Leu)
c.2382C>G (p.Phe794Leu)
11g.22276154C>TCA473409007ANO5n.492C>T
c.2025C>T (p.Phe675=)
c.2433C>T (p.Phe811=)
c.2372+1407C>T (n.2372+1407C>T)
n.3469C>T
c.2430C>T (p.Phe810=)
c.2475C>T (p.Phe825=)
n.2810C>T
c.2472C>T (p.Phe824=)
c.2397C>T (p.Phe799=)
c.2394C>T (p.Phe798=)
c.2382C>T (p.Phe794=)
11g.22276155T>ACA379924636ANO5n.493T>A
c.2026T>A (p.Trp676Arg)
c.2434T>A (p.Trp812Arg)
c.2372+1408T>A (n.2372+1408T>A)
n.3470T>A
c.2431T>A (p.Trp811Arg)
c.2476T>A (p.Trp826Arg)
n.2811T>A
c.2473T>A (p.Trp825Arg)
c.2398T>A (p.Trp800Arg)
c.2395T>A (p.Trp799Arg)
c.2383T>A (p.Trp795Arg)
11g.22276155T>CCA379924637ANO5n.493T>C
c.2026T>C (p.Trp676Arg)
c.2434T>C (p.Trp812Arg)
c.2372+1408T>C (n.2372+1408T>C)
n.3470T>C
c.2431T>C (p.Trp811Arg)
c.2476T>C (p.Trp826Arg)
n.2811T>C
c.2473T>C (p.Trp825Arg)
c.2398T>C (p.Trp800Arg)
c.2395T>C (p.Trp799Arg)
c.2383T>C (p.Trp795Arg)
 dbSNP
11g.22276155T>GCA379924635ANO5n.493T>G
c.2026T>G (p.Trp676Gly)
c.2434T>G (p.Trp812Gly)
c.2372+1408T>G (n.2372+1408T>G)
n.3470T>G
c.2431T>G (p.Trp811Gly)
c.2476T>G (p.Trp826Gly)
n.2811T>G
c.2473T>G (p.Trp825Gly)
c.2398T>G (p.Trp800Gly)
c.2395T>G (p.Trp799Gly)
c.2383T>G (p.Trp795Gly)
11g.22276155T=CA1957408413ANO5n.493T=
c.2026T= (p.Trp676=)
c.2434T= (p.Trp812=)
c.2372+1408T= (n.2372+1408T=)
n.3470T=
c.2431T= (p.Trp811=)
c.2476T= (p.Trp826=)
n.2811T=
c.2473T= (p.Trp825=)
c.2398T= (p.Trp800=)
c.2395T= (p.Trp799=)
c.2383T= (p.Trp795=)
11g.22276156G>ACA379924638ANO5n.494G>A
c.2027G>A (p.Trp676Ter)
c.2435G>A (p.Trp812Ter)
c.2372+1409G>A (n.2372+1409G>A)
n.3471G>A
c.2432G>A (p.Trp811Ter)
c.2477G>A (p.Trp826Ter)
n.2812G>A
c.2474G>A (p.Trp825Ter)
c.2399G>A (p.Trp800Ter)
c.2396G>A (p.Trp799Ter)
c.2384G>A (p.Trp795Ter)
11g.22276156G>CCA379924640ANO5n.494G>C
c.2027G>C (p.Trp676Ser)
c.2435G>C (p.Trp812Ser)
c.2372+1409G>C (n.2372+1409G>C)
n.3471G>C
c.2432G>C (p.Trp811Ser)
c.2477G>C (p.Trp826Ser)
n.2812G>C
c.2474G>C (p.Trp825Ser)
c.2399G>C (p.Trp800Ser)
c.2396G>C (p.Trp799Ser)
c.2384G>C (p.Trp795Ser)
11g.22276156G>TCA379924639ANO5n.494G>T
c.2027G>T (p.Trp676Leu)
c.2435G>T (p.Trp812Leu)
c.2372+1409G>T (n.2372+1409G>T)
n.3471G>T
c.2432G>T (p.Trp811Leu)
c.2477G>T (p.Trp826Leu)
n.2812G>T
c.2474G>T (p.Trp825Leu)
c.2399G>T (p.Trp800Leu)
c.2396G>T (p.Trp799Leu)
c.2384G>T (p.Trp795Leu)
11g.22276157G>ACA379924641ANO5n.495G>A
c.2028G>A (p.Trp676Ter)
c.2436G>A (p.Trp812Ter)
c.2372+1410G>A (n.2372+1410G>A)
n.3472G>A
c.2433G>A (p.Trp811Ter)
c.2478G>A (p.Trp826Ter)
n.2813G>A
c.2475G>A (p.Trp825Ter)
c.2400G>A (p.Trp800Ter)
c.2397G>A (p.Trp799Ter)
c.2385G>A (p.Trp795Ter)
11g.22276157G>CCA379924642ANO5n.495G>C
c.2028G>C (p.Trp676Cys)
c.2436G>C (p.Trp812Cys)
c.2372+1410G>C (n.2372+1410G>C)
n.3472G>C
c.2433G>C (p.Trp811Cys)
c.2478G>C (p.Trp826Cys)
n.2813G>C
c.2475G>C (p.Trp825Cys)
c.2400G>C (p.Trp800Cys)
c.2397G>C (p.Trp799Cys)
c.2385G>C (p.Trp795Cys)
11g.22276157G=CA1957408425ANO5n.495G=
c.2028G= (p.Trp676=)
c.2436G= (p.Trp812=)
c.2372+1410G= (n.2372+1410G=)
n.3472G=
c.2433G= (p.Trp811=)
c.2478G= (p.Trp826=)
n.2813G=
c.2475G= (p.Trp825=)
c.2400G= (p.Trp800=)
c.2397G= (p.Trp799=)
c.2385G= (p.Trp795=)
11g.22276157G>TCA10634421ANO5n.495G>T
c.2028G>T (p.Trp676Cys)
c.2436G>T (p.Trp812Cys)
c.2372+1410G>T (n.2372+1410G>T)
n.3472G>T
c.2433G>T (p.Trp811Cys)
c.2478G>T (p.Trp826Cys)
n.2813G>T
c.2475G>T (p.Trp825Cys)
c.2400G>T (p.Trp800Cys)
c.2397G>T (p.Trp799Cys)
c.2385G>T (p.Trp795Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.22276158C>ACA379924643ANO5n.496C>A
c.2029C>A (p.His677Asn)
c.2437C>A (p.His813Asn)
c.2372+1411C>A (n.2372+1411C>A)
n.3473C>A
c.2434C>A (p.His812Asn)
c.2479C>A (p.His827Asn)
n.2814C>A
c.2476C>A (p.His826Asn)
c.2401C>A (p.His801Asn)
c.2398C>A (p.His800Asn)
c.2386C>A (p.His796Asn)
11g.22276158C=CA1957408435ANO5n.496C=
c.2029C= (p.His677=)
c.2437C= (p.His813=)
c.2372+1411C= (n.2372+1411C=)
n.3473C=
c.2434C= (p.His812=)
c.2479C= (p.His827=)
n.2814C=
c.2476C= (p.His826=)
c.2401C= (p.His801=)
c.2398C= (p.His800=)
c.2386C= (p.His796=)
11g.22276158C>GCA379924644ANO5n.496C>G
c.2029C>G (p.His677Asp)
c.2437C>G (p.His813Asp)
c.2372+1411C>G (n.2372+1411C>G)
n.3473C>G
c.2434C>G (p.His812Asp)
c.2479C>G (p.His827Asp)
n.2814C>G
c.2476C>G (p.His826Asp)
c.2401C>G (p.His801Asp)
c.2398C>G (p.His800Asp)
c.2386C>G (p.His796Asp)
11g.22276158C>TCA379924645ANO5n.496C>T
c.2029C>T (p.His677Tyr)
c.2437C>T (p.His813Tyr)
c.2372+1411C>T (n.2372+1411C>T)
n.3473C>T
c.2434C>T (p.His812Tyr)
c.2479C>T (p.His827Tyr)
n.2814C>T
c.2476C>T (p.His826Tyr)
c.2401C>T (p.His801Tyr)
c.2398C>T (p.His800Tyr)
c.2386C>T (p.His796Tyr)
 dbSNP gnomAD v2
11g.22276159A>CCA379924648ANO5n.497A>C
c.2030A>C (p.His677Pro)
c.2438A>C (p.His813Pro)
c.2372+1412A>C (n.2372+1412A>C)
n.3474A>C
c.2435A>C (p.His812Pro)
c.2480A>C (p.His827Pro)
n.2815A>C
c.2477A>C (p.His826Pro)
c.2402A>C (p.His801Pro)
c.2399A>C (p.His800Pro)
c.2387A>C (p.His796Pro)
11g.22276159A>GCA379924647ANO5n.497A>G
c.2030A>G (p.His677Arg)
c.2438A>G (p.His813Arg)
c.2372+1412A>G (n.2372+1412A>G)
n.3474A>G
c.2435A>G (p.His812Arg)
c.2480A>G (p.His827Arg)
n.2815A>G
c.2477A>G (p.His826Arg)
c.2402A>G (p.His801Arg)
c.2399A>G (p.His800Arg)
c.2387A>G (p.His796Arg)
 gnomAD v4
11g.22276159A>TCA379924646ANO5n.497A>T
c.2030A>T (p.His677Leu)
c.2438A>T (p.His813Leu)
c.2372+1412A>T (n.2372+1412A>T)
n.3474A>T
c.2435A>T (p.His812Leu)
c.2480A>T (p.His827Leu)
n.2815A>T
c.2477A>T (p.His826Leu)
c.2402A>T (p.His801Leu)
c.2399A>T (p.His800Leu)
c.2387A>T (p.His796Leu)
11g.22276160T>ACA379924649ANO5n.498T>A
c.2031T>A (p.His677Gln)
c.2439T>A (p.His813Gln)
c.2372+1413T>A (n.2372+1413T>A)
n.3475T>A
c.2436T>A (p.His812Gln)
c.2481T>A (p.His827Gln)
n.2816T>A
c.2478T>A (p.His826Gln)
c.2403T>A (p.His801Gln)
c.2400T>A (p.His800Gln)
c.2388T>A (p.His796Gln)
11g.22276160T>CCA5923594ANO5n.498T>C
c.2031T>C (p.His677=)
c.2439T>C (p.His813=)
c.2372+1413T>C (n.2372+1413T>C)
n.3475T>C
c.2436T>C (p.His812=)
c.2481T>C (p.His827=)
n.2816T>C
c.2478T>C (p.His826=)
c.2403T>C (p.His801=)
c.2400T>C (p.His800=)
c.2388T>C (p.His796=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.22276160T>GCA379924650ANO5n.498T>G
c.2031T>G (p.His677Gln)
c.2439T>G (p.His813Gln)
c.2372+1413T>G (n.2372+1413T>G)
n.3475T>G
c.2436T>G (p.His812Gln)
c.2481T>G (p.His827Gln)
n.2816T>G
c.2478T>G (p.His826Gln)
c.2403T>G (p.His801Gln)
c.2400T>G (p.His800Gln)
c.2388T>G (p.His796Gln)
11g.22276160T=CA1957408440ANO5n.498T=
c.2031T= (p.His677=)
c.2439T= (p.His813=)
c.2372+1413T= (n.2372+1413T=)
n.3475T=
c.2436T= (p.His812=)
c.2481T= (p.His827=)
n.2816T=
c.2478T= (p.His826=)
c.2403T= (p.His801=)
c.2400T= (p.His800=)
c.2388T= (p.His796=)
11g.22276161G>ACA379924651ANO5n.499G>A
c.2032G>A (p.Val678Ile)
c.2440G>A (p.Val814Ile)
c.2372+1414G>A (n.2372+1414G>A)
n.3476G>A
c.2437G>A (p.Val813Ile)
c.2482G>A (p.Val828Ile)
n.2817G>A
c.2479G>A (p.Val827Ile)
c.2404G>A (p.Val802Ile)
c.2401G>A (p.Val801Ile)
c.2389G>A (p.Val797Ile)
11g.22276161G>CCA379924652ANO5n.499G>C
c.2032G>C (p.Val678Leu)
c.2440G>C (p.Val814Leu)
c.2372+1414G>C (n.2372+1414G>C)
n.3476G>C
c.2437G>C (p.Val813Leu)
c.2482G>C (p.Val828Leu)
n.2817G>C
c.2479G>C (p.Val827Leu)
c.2404G>C (p.Val802Leu)
c.2401G>C (p.Val801Leu)
c.2389G>C (p.Val797Leu)
11g.22276161G=CA1957408451ANO5n.499G=
c.2032G= (p.Val678=)
c.2440G= (p.Val814=)
c.2372+1414G= (n.2372+1414G=)
n.3476G=
c.2437G= (p.Val813=)
c.2482G= (p.Val828=)
n.2817G=
c.2479G= (p.Val827=)
c.2404G= (p.Val802=)
c.2401G= (p.Val801=)
c.2389G= (p.Val797=)
11g.22276161G>TCA218777847ANO5n.499G>T
c.2032G>T (p.Val678Phe)
c.2440G>T (p.Val814Phe)
c.2372+1414G>T (n.2372+1414G>T)
n.3476G>T
c.2437G>T (p.Val813Phe)
c.2482G>T (p.Val828Phe)
n.2817G>T
c.2479G>T (p.Val827Phe)
c.2404G>T (p.Val802Phe)
c.2401G>T (p.Val801Phe)
c.2389G>T (p.Val797Phe)
 ClinVar dbSNP gnomAD v4
11g.22276162T>ACA379924655ANO5n.500T>A
c.2033T>A (p.Val678Asp)
c.2441T>A (p.Val814Asp)
c.2372+1415T>A (n.2372+1415T>A)
n.3477T>A
c.2438T>A (p.Val813Asp)
c.2483T>A (p.Val828Asp)
n.2818T>A
c.2480T>A (p.Val827Asp)
c.2405T>A (p.Val802Asp)
c.2402T>A (p.Val801Asp)
c.2390T>A (p.Val797Asp)
11g.22276162T>CCA379924653ANO5n.500T>C
c.2033T>C (p.Val678Ala)
c.2441T>C (p.Val814Ala)
c.2372+1415T>C (n.2372+1415T>C)
n.3477T>C
c.2438T>C (p.Val813Ala)
c.2483T>C (p.Val828Ala)
n.2818T>C
c.2480T>C (p.Val827Ala)
c.2405T>C (p.Val802Ala)
c.2402T>C (p.Val801Ala)
c.2390T>C (p.Val797Ala)
11g.22276162T>GCA379924654ANO5n.500T>G
c.2033T>G (p.Val678Gly)
c.2441T>G (p.Val814Gly)
c.2372+1415T>G (n.2372+1415T>G)
n.3477T>G
c.2438T>G (p.Val813Gly)
c.2483T>G (p.Val828Gly)
n.2818T>G
c.2480T>G (p.Val827Gly)
c.2405T>G (p.Val802Gly)
c.2402T>G (p.Val801Gly)
c.2390T>G (p.Val797Gly)
11g.22276163C>ACA473409034ANO5n.501C>A
c.2034C>A (p.Val678=)
c.2442C>A (p.Val814=)
c.2372+1416C>A (n.2372+1416C>A)
n.3478C>A
c.2439C>A (p.Val813=)
c.2484C>A (p.Val828=)
n.2819C>A
c.2481C>A (p.Val827=)
c.2406C>A (p.Val802=)
c.2403C>A (p.Val801=)
c.2391C>A (p.Val797=)
11g.22276163C=CA1957408455ANO5n.501C=
c.2034C= (p.Val678=)
c.2442C= (p.Val814=)
c.2372+1416C= (n.2372+1416C=)
n.3478C=
c.2439C= (p.Val813=)
c.2484C= (p.Val828=)
n.2819C=
c.2481C= (p.Val827=)
c.2406C= (p.Val802=)
c.2403C= (p.Val801=)
c.2391C= (p.Val797=)
11g.22276163C>GCA473409033ANO5n.501C>G
c.2034C>G (p.Val678=)
c.2442C>G (p.Val814=)
c.2372+1416C>G (n.2372+1416C>G)
n.3478C>G
c.2439C>G (p.Val813=)
c.2484C>G (p.Val828=)
n.2819C>G
c.2481C>G (p.Val827=)
c.2406C>G (p.Val802=)
c.2403C>G (p.Val801=)
c.2391C>G (p.Val797=)
11g.22276163C>TCA5923595ANO5n.501C>T
c.2034C>T (p.Val678=)
c.2442C>T (p.Val814=)
c.2372+1416C>T (n.2372+1416C>T)
n.3478C>T
c.2439C>T (p.Val813=)
c.2484C>T (p.Val828=)
n.2819C>T
c.2481C>T (p.Val827=)
c.2406C>T (p.Val802=)
c.2403C>T (p.Val801=)
c.2391C>T (p.Val797=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.22276164delCA2612838090ANO5n.502del
c.2035del (p.Ala680LeufsTer4)
c.2443del (p.Ala816LeufsTer4)
c.2372+1417del (n.2372+1417del)
n.3479del
c.2440del (p.Ala815LeufsTer4)
c.2485del (p.Ala830LeufsTer4)
n.2820del
c.2482del (p.Ala829LeufsTer4)
c.2407del (p.Ala804LeufsTer4)
c.2404del (p.Ala803LeufsTer4)
c.2392del (p.Ala799LeufsTer4)
 gnomAD v4
11g.22276164C>ACA379924656ANO5n.502C>A
c.2035C>A (p.Leu679Ile)
c.2443C>A (p.Leu815Ile)
c.2372+1417C>A (n.2372+1417C>A)
n.3479C>A
c.2440C>A (p.Leu814Ile)
c.2485C>A (p.Leu829Ile)
n.2820C>A
c.2482C>A (p.Leu828Ile)
c.2407C>A (p.Leu803Ile)
c.2404C>A (p.Leu802Ile)
c.2392C>A (p.Leu798Ile)
11g.22276164C=CA1957408459ANO5n.502C=
c.2035C= (p.Leu679=)
c.2443C= (p.Leu815=)
c.2372+1417C= (n.2372+1417C=)
n.3479C=
c.2440C= (p.Leu814=)
c.2485C= (p.Leu829=)
n.2820C=
c.2482C= (p.Leu828=)
c.2407C= (p.Leu803=)
c.2404C= (p.Leu802=)
c.2392C= (p.Leu798=)
11g.22276164C>GCA379924657ANO5n.502C>G
c.2035C>G (p.Leu679Val)
c.2443C>G (p.Leu815Val)
c.2372+1417C>G (n.2372+1417C>G)
n.3479C>G
c.2440C>G (p.Leu814Val)
c.2485C>G (p.Leu829Val)
n.2820C>G
c.2482C>G (p.Leu828Val)
c.2407C>G (p.Leu803Val)
c.2404C>G (p.Leu802Val)
c.2392C>G (p.Leu798Val)
11g.22276164C>TCA379924658ANO5n.502C>T
c.2035C>T (p.Leu679Phe)
c.2443C>T (p.Leu815Phe)
c.2372+1417C>T (n.2372+1417C>T)
n.3479C>T
c.2440C>T (p.Leu814Phe)
c.2485C>T (p.Leu829Phe)
n.2820C>T
c.2482C>T (p.Leu828Phe)
c.2407C>T (p.Leu803Phe)
c.2404C>T (p.Leu802Phe)
c.2392C>T (p.Leu798Phe)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.22276165T>ACA379924659ANO5n.503T>A
c.2036T>A (p.Leu679His)
c.2444T>A (p.Leu815His)
c.2372+1418T>A (n.2372+1418T>A)
n.3480T>A
c.2441T>A (p.Leu814His)
c.2486T>A (p.Leu829His)
n.2821T>A
c.2483T>A (p.Leu828His)
c.2408T>A (p.Leu803His)
c.2405T>A (p.Leu802His)
c.2393T>A (p.Leu798His)
11g.22276165T>CCA379924660ANO5n.503T>C
c.2036T>C (p.Leu679Pro)
c.2444T>C (p.Leu815Pro)
c.2372+1418T>C (n.2372+1418T>C)
n.3480T>C
c.2441T>C (p.Leu814Pro)
c.2486T>C (p.Leu829Pro)
n.2821T>C
c.2483T>C (p.Leu828Pro)
c.2408T>C (p.Leu803Pro)
c.2405T>C (p.Leu802Pro)
c.2393T>C (p.Leu798Pro)
11g.22276165T>GCA379924661ANO5n.503T>G
c.2036T>G (p.Leu679Arg)
c.2444T>G (p.Leu815Arg)
c.2372+1418T>G (n.2372+1418T>G)
n.3480T>G
c.2441T>G (p.Leu814Arg)
c.2486T>G (p.Leu829Arg)
n.2821T>G
c.2483T>G (p.Leu828Arg)
c.2408T>G (p.Leu803Arg)
c.2405T>G (p.Leu802Arg)
c.2393T>G (p.Leu798Arg)
 gnomAD v4
11g.22276166T>ACA473409045ANO5n.504T>A
c.2037T>A (p.Leu679=)
c.2445T>A (p.Leu815=)
c.2372+1419T>A (n.2372+1419T>A)
n.3481T>A
c.2442T>A (p.Leu814=)
c.2487T>A (p.Leu829=)
n.2822T>A
c.2484T>A (p.Leu828=)
c.2409T>A (p.Leu803=)
c.2406T>A (p.Leu802=)
c.2394T>A (p.Leu798=)
11g.22276166T>CCA473409043ANO5n.504T>C
c.2037T>C (p.Leu679=)
c.2445T>C (p.Leu815=)
c.2372+1419T>C (n.2372+1419T>C)
n.3481T>C
c.2442T>C (p.Leu814=)
c.2487T>C (p.Leu829=)
n.2822T>C
c.2484T>C (p.Leu828=)
c.2409T>C (p.Leu803=)
c.2406T>C (p.Leu802=)
c.2394T>C (p.Leu798=)
11g.22276166T>GCA473409042ANO5n.504T>G
c.2037T>G (p.Leu679=)
c.2445T>G (p.Leu815=)
c.2372+1419T>G (n.2372+1419T>G)
n.3481T>G
c.2442T>G (p.Leu814=)
c.2487T>G (p.Leu829=)
n.2822T>G
c.2484T>G (p.Leu828=)
c.2409T>G (p.Leu803=)
c.2406T>G (p.Leu802=)
c.2394T>G (p.Leu798=)
11g.22276167G>ACA379924662ANO5n.505G>A
c.2038G>A (p.Ala680Thr)
c.2446G>A (p.Ala816Thr)
c.2372+1420G>A (n.2372+1420G>A)
n.3482G>A
c.2443G>A (p.Ala815Thr)
c.2488G>A (p.Ala830Thr)
n.2823G>A
c.2485G>A (p.Ala829Thr)
c.2410G>A (p.Ala804Thr)
c.2407G>A (p.Ala803Thr)
c.2395G>A (p.Ala799Thr)
 ClinVar
11g.22276167G>CCA379924663ANO5n.505G>C
c.2038G>C (p.Ala680Pro)
c.2446G>C (p.Ala816Pro)
c.2372+1420G>C (n.2372+1420G>C)
n.3482G>C
c.2443G>C (p.Ala815Pro)
c.2488G>C (p.Ala830Pro)
n.2823G>C
c.2485G>C (p.Ala829Pro)
c.2410G>C (p.Ala804Pro)
c.2407G>C (p.Ala803Pro)
c.2395G>C (p.Ala799Pro)
11g.22276167G>TCA379924664ANO5n.505G>T
c.2038G>T (p.Ala680Ser)
c.2446G>T (p.Ala816Ser)
c.2372+1420G>T (n.2372+1420G>T)
n.3482G>T
c.2443G>T (p.Ala815Ser)
c.2488G>T (p.Ala830Ser)
n.2823G>T
c.2485G>T (p.Ala829Ser)
c.2410G>T (p.Ala804Ser)
c.2407G>T (p.Ala803Ser)
c.2395G>T (p.Ala799Ser)
11g.22276168C>ACA379924665ANO5n.506C>A
c.2039C>A (p.Ala680Asp)
c.2447C>A (p.Ala816Asp)
c.2372+1421C>A (n.2372+1421C>A)
n.3483C>A
c.2444C>A (p.Ala815Asp)
c.2489C>A (p.Ala830Asp)
n.2824C>A
c.2486C>A (p.Ala829Asp)
c.2411C>A (p.Ala804Asp)
c.2408C>A (p.Ala803Asp)
c.2396C>A (p.Ala799Asp)
11g.22276168C=CA1957408462ANO5n.506C=
c.2039C= (p.Ala680=)
c.2447C= (p.Ala816=)
c.2372+1421C= (n.2372+1421C=)
n.3483C=
c.2444C= (p.Ala815=)
c.2489C= (p.Ala830=)
n.2824C=
c.2486C= (p.Ala829=)
c.2411C= (p.Ala804=)
c.2408C= (p.Ala803=)
c.2396C= (p.Ala799=)
11g.22276168C>GCA379924666ANO5n.506C>G
c.2039C>G (p.Ala680Gly)
c.2447C>G (p.Ala816Gly)
c.2372+1421C>G (n.2372+1421C>G)
n.3483C>G
c.2444C>G (p.Ala815Gly)
c.2489C>G (p.Ala830Gly)
n.2824C>G
c.2486C>G (p.Ala829Gly)
c.2411C>G (p.Ala804Gly)
c.2408C>G (p.Ala803Gly)
c.2396C>G (p.Ala799Gly)
 dbSNP gnomAD v3 gnomAD v4
11g.22276168C>TCA5923596ANO5n.506C>T
c.2039C>T (p.Ala680Val)
c.2447C>T (p.Ala816Val)
c.2372+1421C>T (n.2372+1421C>T)
n.3483C>T
c.2444C>T (p.Ala815Val)
c.2489C>T (p.Ala830Val)
n.2824C>T
c.2486C>T (p.Ala829Val)
c.2411C>T (p.Ala804Val)
c.2408C>T (p.Ala803Val)
c.2396C>T (p.Ala799Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.22276169T>ACA473409054ANO5n.507T>A
c.2040T>A (p.Ala680=)
c.2448T>A (p.Ala816=)
c.2372+1422T>A (n.2372+1422T>A)
n.3484T>A
c.2445T>A (p.Ala815=)
c.2490T>A (p.Ala830=)
n.2825T>A
c.2487T>A (p.Ala829=)
c.2412T>A (p.Ala804=)
c.2409T>A (p.Ala803=)
c.2397T>A (p.Ala799=)
11g.22276169T>CCA473409057ANO5n.507T>C
c.2040T>C (p.Ala680=)
c.2448T>C (p.Ala816=)
c.2372+1422T>C (n.2372+1422T>C)
n.3484T>C
c.2445T>C (p.Ala815=)
c.2490T>C (p.Ala830=)
n.2825T>C
c.2487T>C (p.Ala829=)
c.2412T>C (p.Ala804=)
c.2409T>C (p.Ala803=)
c.2397T>C (p.Ala799=)
11g.22276169T>GCA473409055ANO5n.507T>G
c.2040T>G (p.Ala680=)
c.2448T>G (p.Ala816=)
c.2372+1422T>G (n.2372+1422T>G)
n.3484T>G
c.2445T>G (p.Ala815=)
c.2490T>G (p.Ala830=)
n.2825T>G
c.2487T>G (p.Ala829=)
c.2412T>G (p.Ala804=)
c.2409T>G (p.Ala803=)
c.2397T>G (p.Ala799=)
11g.22276170G>ACA379924667ANO5n.508G>A
c.2041G>A (p.Ala681Thr)
c.2449G>A (p.Ala817Thr)
c.2372+1423G>A (n.2372+1423G>A)
n.3485G>A
c.2446G>A (p.Ala816Thr)
c.2491G>A (p.Ala831Thr)
n.2826G>A
c.2488G>A (p.Ala830Thr)
c.2413G>A (p.Ala805Thr)
c.2410G>A (p.Ala804Thr)
c.2398G>A (p.Ala800Thr)
 dbSNP gnomAD v2
11g.22276170G>CCA379924669ANO5n.508G>C
c.2041G>C (p.Ala681Pro)
c.2449G>C (p.Ala817Pro)
c.2372+1423G>C (n.2372+1423G>C)
n.3485G>C
c.2446G>C (p.Ala816Pro)
c.2491G>C (p.Ala831Pro)
n.2826G>C
c.2488G>C (p.Ala830Pro)
c.2413G>C (p.Ala805Pro)
c.2410G>C (p.Ala804Pro)
c.2398G>C (p.Ala800Pro)
11g.22276170G=CA1957408468ANO5n.508G=
c.2041G= (p.Ala681=)
c.2449G= (p.Ala817=)
c.2372+1423G= (n.2372+1423G=)
n.3485G=
c.2446G= (p.Ala816=)
c.2491G= (p.Ala831=)
n.2826G=
c.2488G= (p.Ala830=)
c.2413G= (p.Ala805=)
c.2410G= (p.Ala804=)
c.2398G= (p.Ala800=)
11g.22276170G>TCA379924668ANO5n.508G>T
c.2041G>T (p.Ala681Ser)
c.2449G>T (p.Ala817Ser)
c.2372+1423G>T (n.2372+1423G>T)
n.3485G>T
c.2446G>T (p.Ala816Ser)
c.2491G>T (p.Ala831Ser)
n.2826G>T
c.2488G>T (p.Ala830Ser)
c.2413G>T (p.Ala805Ser)
c.2410G>T (p.Ala804Ser)
c.2398G>T (p.Ala800Ser)
11g.22276171C>ACA379924670ANO5n.509C>A
c.2042C>A (p.Ala681Asp)
c.2450C>A (p.Ala817Asp)
c.2372+1424C>A (n.2372+1424C>A)
n.3486C>A
c.2447C>A (p.Ala816Asp)
c.2492C>A (p.Ala831Asp)
n.2827C>A
c.2489C>A (p.Ala830Asp)
c.2414C>A (p.Ala805Asp)
c.2411C>A (p.Ala804Asp)
c.2399C>A (p.Ala800Asp)
11g.22276171C=CA1957408477ANO5n.509C=
c.2042C= (p.Ala681=)
c.2450C= (p.Ala817=)
c.2372+1424C= (n.2372+1424C=)
n.3486C=
c.2447C= (p.Ala816=)
c.2492C= (p.Ala831=)
n.2827C=
c.2489C= (p.Ala830=)
c.2414C= (p.Ala805=)
c.2411C= (p.Ala804=)
c.2399C= (p.Ala800=)
11g.22276171C>GCA218777859ANO5n.509C>G
c.2042C>G (p.Ala681Gly)
c.2450C>G (p.Ala817Gly)
c.2372+1424C>G (n.2372+1424C>G)
n.3486C>G
c.2447C>G (p.Ala816Gly)
c.2492C>G (p.Ala831Gly)
n.2827C>G
c.2489C>G (p.Ala830Gly)
c.2414C>G (p.Ala805Gly)
c.2411C>G (p.Ala804Gly)
c.2399C>G (p.Ala800Gly)
 dbSNP
11g.22276171C>TCA379924671ANO5n.509C>T
c.2042C>T (p.Ala681Val)
c.2450C>T (p.Ala817Val)
c.2372+1424C>T (n.2372+1424C>T)
n.3486C>T
c.2447C>T (p.Ala816Val)
c.2492C>T (p.Ala831Val)
n.2827C>T
c.2489C>T (p.Ala830Val)
c.2414C>T (p.Ala805Val)
c.2411C>T (p.Ala804Val)
c.2399C>T (p.Ala800Val)
11g.22276172C>ACA473409064ANO5n.510C>A
c.2043C>A (p.Ala681=)
c.2451C>A (p.Ala817=)
c.2372+1425C>A (n.2372+1425C>A)
n.3487C>A
c.2448C>A (p.Ala816=)
c.2493C>A (p.Ala831=)
n.2828C>A
c.2490C>A (p.Ala830=)
c.2415C>A (p.Ala805=)
c.2412C>A (p.Ala804=)
c.2400C>A (p.Ala800=)
11g.22276172C=CA1957408485ANO5n.510C=
c.2043C= (p.Ala681=)
c.2451C= (p.Ala817=)
c.2372+1425C= (n.2372+1425C=)
n.3487C=
c.2448C= (p.Ala816=)
c.2493C= (p.Ala831=)
n.2828C=
c.2490C= (p.Ala830=)
c.2415C= (p.Ala805=)
c.2412C= (p.Ala804=)
c.2400C= (p.Ala800=)
11g.22276172C>GCA473409066ANO5n.510C>G
c.2043C>G (p.Ala681=)
c.2451C>G (p.Ala817=)
c.2372+1425C>G (n.2372+1425C>G)
n.3487C>G
c.2448C>G (p.Ala816=)
c.2493C>G (p.Ala831=)
n.2828C>G
c.2490C>G (p.Ala830=)
c.2415C>G (p.Ala805=)
c.2412C>G (p.Ala804=)
c.2400C>G (p.Ala800=)
11g.22276172C>TCA473409068ANO5n.510C>T
c.2043C>T (p.Ala681=)
c.2451C>T (p.Ala817=)
c.2372+1425C>T (n.2372+1425C>T)
n.3487C>T
c.2448C>T (p.Ala816=)
c.2493C>T (p.Ala831=)
n.2828C>T
c.2490C>T (p.Ala830=)
c.2415C>T (p.Ala805=)
c.2412C>T (p.Ala804=)
c.2400C>T (p.Ala800=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.22276173A>CCA379924672ANO5n.511A>C
c.2044A>C (p.Lys682Gln)
c.2452A>C (p.Lys818Gln)
c.2372+1426A>C (n.2372+1426A>C)
n.3488A>C
c.2449A>C (p.Lys817Gln)
c.2494A>C (p.Lys832Gln)
n.2829A>C
c.2491A>C (p.Lys831Gln)
c.2416A>C (p.Lys806Gln)
c.2413A>C (p.Lys805Gln)
c.2401A>C (p.Lys801Gln)
 gnomAD v4
11g.22276173A>GCA379924673ANO5n.511A>G
c.2044A>G (p.Lys682Glu)
c.2452A>G (p.Lys818Glu)
c.2372+1426A>G (n.2372+1426A>G)
n.3488A>G
c.2449A>G (p.Lys817Glu)
c.2494A>G (p.Lys832Glu)
n.2829A>G
c.2491A>G (p.Lys831Glu)
c.2416A>G (p.Lys806Glu)
c.2413A>G (p.Lys805Glu)
c.2401A>G (p.Lys801Glu)
11g.22276173A>TCA379924674ANO5n.511A>T
c.2044A>T (p.Lys682Ter)
c.2452A>T (p.Lys818Ter)
c.2372+1426A>T (n.2372+1426A>T)
n.3488A>T
c.2449A>T (p.Lys817Ter)
c.2494A>T (p.Lys832Ter)
n.2829A>T
c.2491A>T (p.Lys831Ter)
c.2416A>T (p.Lys806Ter)
c.2413A>T (p.Lys805Ter)
c.2401A>T (p.Lys801Ter)
11g.22276174A>CCA379924677ANO5n.512A>C
c.2045A>C (p.Lys682Thr)
c.2453A>C (p.Lys818Thr)
c.2372+1427A>C (n.2372+1427A>C)
n.3489A>C
c.2450A>C (p.Lys817Thr)
c.2495A>C (p.Lys832Thr)
n.2830A>C
c.2492A>C (p.Lys831Thr)
c.2417A>C (p.Lys806Thr)
c.2414A>C (p.Lys805Thr)
c.2402A>C (p.Lys801Thr)
11g.22276174A>GCA379924675ANO5n.512A>G
c.2045A>G (p.Lys682Arg)
c.2453A>G (p.Lys818Arg)
c.2372+1427A>G (n.2372+1427A>G)
n.3489A>G
c.2450A>G (p.Lys817Arg)
c.2495A>G (p.Lys832Arg)
n.2830A>G
c.2492A>G (p.Lys831Arg)
c.2417A>G (p.Lys806Arg)
c.2414A>G (p.Lys805Arg)
c.2402A>G (p.Lys801Arg)
11g.22276174A>TCA379924676ANO5n.512A>T
c.2045A>T (p.Lys682Met)
c.2453A>T (p.Lys818Met)
c.2372+1427A>T (n.2372+1427A>T)
n.3489A>T
c.2450A>T (p.Lys817Met)
c.2495A>T (p.Lys832Met)
n.2830A>T
c.2492A>T (p.Lys831Met)
c.2417A>T (p.Lys806Met)
c.2414A>T (p.Lys805Met)
c.2402A>T (p.Lys801Met)
11g.22276175G>ACA473409075ANO5n.513G>A
c.2046G>A (p.Lys682=)
c.2454G>A (p.Lys818=)
c.2372+1428G>A (n.2372+1428G>A)
n.3490G>A
c.2451G>A (p.Lys817=)
c.2496G>A (p.Lys832=)
n.2831G>A
c.2493G>A (p.Lys831=)
c.2418G>A (p.Lys806=)
c.2415G>A (p.Lys805=)
c.2403G>A (p.Lys801=)
11g.22276175G>CCA379924678ANO5n.513G>C
c.2046G>C (p.Lys682Asn)
c.2454G>C (p.Lys818Asn)
c.2372+1428G>C (n.2372+1428G>C)
n.3490G>C
c.2451G>C (p.Lys817Asn)
c.2496G>C (p.Lys832Asn)
n.2831G>C
c.2493G>C (p.Lys831Asn)
c.2418G>C (p.Lys806Asn)
c.2415G>C (p.Lys805Asn)
c.2403G>C (p.Lys801Asn)
11g.22276175G>TCA379924679ANO5n.513G>T
c.2046G>T (p.Lys682Asn)
c.2454G>T (p.Lys818Asn)
c.2372+1428G>T (n.2372+1428G>T)
n.3490G>T
c.2451G>T (p.Lys817Asn)
c.2496G>T (p.Lys832Asn)
n.2831G>T
c.2493G>T (p.Lys831Asn)
c.2418G>T (p.Lys806Asn)
c.2415G>T (p.Lys805Asn)
c.2403G>T (p.Lys801Asn)
 ClinVar
11g.22276176A>CCA379924680ANO5n.514A>C
c.2047A>C (p.Met683Leu)
c.2455A>C (p.Met819Leu)
c.2372+1429A>C (n.2372+1429A>C)
n.3491A>C
c.2452A>C (p.Met818Leu)
c.2497A>C (p.Met833Leu)
n.2832A>C
c.2494A>C (p.Met832Leu)
c.2419A>C (p.Met807Leu)
c.2416A>C (p.Met806Leu)
c.2404A>C (p.Met802Leu)
11g.22276176A>GCA379924681ANO5n.514A>G
c.2047A>G (p.Met683Val)
c.2455A>G (p.Met819Val)
c.2372+1429A>G (n.2372+1429A>G)
n.3491A>G
c.2452A>G (p.Met818Val)
c.2497A>G (p.Met833Val)
n.2832A>G
c.2494A>G (p.Met832Val)
c.2419A>G (p.Met807Val)
c.2416A>G (p.Met806Val)
c.2404A>G (p.Met802Val)
11g.22276176A>TCA379924682ANO5n.514A>T
c.2047A>T (p.Met683Leu)
c.2455A>T (p.Met819Leu)
c.2372+1429A>T (n.2372+1429A>T)
n.3491A>T
c.2452A>T (p.Met818Leu)
c.2497A>T (p.Met833Leu)
n.2832A>T
c.2494A>T (p.Met832Leu)
c.2419A>T (p.Met807Leu)
c.2416A>T (p.Met806Leu)
c.2404A>T (p.Met802Leu)
11g.22276177T>ACA5923597ANO5n.515T>A
c.2048T>A (p.Met683Lys)
c.2456T>A (p.Met819Lys)
c.2372+1430T>A (n.2372+1430T>A)
n.3492T>A
c.2453T>A (p.Met818Lys)
c.2498T>A (p.Met833Lys)
n.2833T>A
c.2495T>A (p.Met832Lys)
c.2420T>A (p.Met807Lys)
c.2417T>A (p.Met806Lys)
c.2405T>A (p.Met802Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22276177T>CCA379924683ANO5n.515T>C
c.2048T>C (p.Met683Thr)
c.2456T>C (p.Met819Thr)
c.2372+1430T>C (n.2372+1430T>C)
n.3492T>C
c.2453T>C (p.Met818Thr)
c.2498T>C (p.Met833Thr)
n.2833T>C
c.2495T>C (p.Met832Thr)
c.2420T>C (p.Met807Thr)
c.2417T>C (p.Met806Thr)
c.2405T>C (p.Met802Thr)
11g.22276177T>GCA5923598ANO5n.515T>G
c.2048T>G (p.Met683Arg)
c.2456T>G (p.Met819Arg)
c.2372+1430T>G (n.2372+1430T>G)
n.3492T>G
c.2453T>G (p.Met818Arg)
c.2498T>G (p.Met833Arg)
n.2833T>G
c.2495T>G (p.Met832Arg)
c.2420T>G (p.Met807Arg)
c.2417T>G (p.Met806Arg)
c.2405T>G (p.Met802Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.22276177T=CA1957408489ANO5n.515T=
c.2048T= (p.Met683=)
c.2456T= (p.Met819=)
c.2372+1430T= (n.2372+1430T=)
n.3492T=
c.2453T= (p.Met818=)
c.2498T= (p.Met833=)
n.2833T=
c.2495T= (p.Met832=)
c.2420T= (p.Met807=)
c.2417T= (p.Met806=)
c.2405T= (p.Met802=)
11g.22276178G>ACA218777869ANO5n.516G>A
c.2049G>A (p.Met683Ile)
c.2457G>A (p.Met819Ile)
c.2372+1431G>A (n.2372+1431G>A)
n.3493G>A
c.2454G>A (p.Met818Ile)
c.2499G>A (p.Met833Ile)
n.2834G>A
c.2496G>A (p.Met832Ile)
c.2421G>A (p.Met807Ile)
c.2418G>A (p.Met806Ile)
c.2406G>A (p.Met802Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.22276178G>CCA379924684ANO5n.516G>C
c.2049G>C (p.Met683Ile)
c.2457G>C (p.Met819Ile)
c.2372+1431G>C (n.2372+1431G>C)
n.3493G>C
c.2454G>C (p.Met818Ile)
c.2499G>C (p.Met833Ile)
n.2834G>C
c.2496G>C (p.Met832Ile)
c.2421G>C (p.Met807Ile)
c.2418G>C (p.Met806Ile)
c.2406G>C (p.Met802Ile)
11g.22276178G=CA1957408491ANO5n.516G=
c.2049G= (p.Met683=)
c.2457G= (p.Met819=)
c.2372+1431G= (n.2372+1431G=)
n.3493G=
c.2454G= (p.Met818=)
c.2499G= (p.Met833=)
n.2834G=
c.2496G= (p.Met832=)
c.2421G= (p.Met807=)
c.2418G= (p.Met806=)
c.2406G= (p.Met802=)
11g.22276178G>TCA379924685ANO5n.516G>T
c.2049G>T (p.Met683Ile)
c.2457G>T (p.Met819Ile)
c.2372+1431G>T (n.2372+1431G>T)
n.3493G>T
c.2454G>T (p.Met818Ile)
c.2499G>T (p.Met833Ile)
n.2834G>T
c.2496G>T (p.Met832Ile)
c.2421G>T (p.Met807Ile)
c.2418G>T (p.Met806Ile)
c.2406G>T (p.Met802Ile)
11g.22276179A=CA1957408498ANO5n.517A=
c.2050A= (p.Thr684=)
c.2458A= (p.Thr820=)
c.2372+1432A= (n.2372+1432A=)
n.3494A=
c.2455A= (p.Thr819=)
c.2500A= (p.Thr834=)
n.2835A=
c.2497A= (p.Thr833=)
c.2422A= (p.Thr808=)
c.2419A= (p.Thr807=)
c.2407A= (p.Thr803=)
11g.22276179A>CCA379924686ANO5n.517A>C
c.2050A>C (p.Thr684Pro)
c.2458A>C (p.Thr820Pro)
c.2372+1432A>C (n.2372+1432A>C)
n.3494A>C
c.2455A>C (p.Thr819Pro)
c.2500A>C (p.Thr834Pro)
n.2835A>C
c.2497A>C (p.Thr833Pro)
c.2422A>C (p.Thr808Pro)
c.2419A>C (p.Thr807Pro)
c.2407A>C (p.Thr803Pro)
11g.22276179A>GCA379924687ANO5n.517A>G
c.2050A>G (p.Thr684Ala)
c.2458A>G (p.Thr820Ala)
c.2372+1432A>G (n.2372+1432A>G)
n.3494A>G
c.2455A>G (p.Thr819Ala)
c.2500A>G (p.Thr834Ala)
n.2835A>G
c.2497A>G (p.Thr833Ala)
c.2422A>G (p.Thr808Ala)
c.2419A>G (p.Thr807Ala)
c.2407A>G (p.Thr803Ala)
 dbSNP gnomAD v3 gnomAD v4
11g.22276179A>TCA379924688ANO5n.517A>T
c.2050A>T (p.Thr684Ser)
c.2458A>T (p.Thr820Ser)
c.2372+1432A>T (n.2372+1432A>T)
n.3494A>T
c.2455A>T (p.Thr819Ser)
c.2500A>T (p.Thr834Ser)
n.2835A>T
c.2497A>T (p.Thr833Ser)
c.2422A>T (p.Thr808Ser)
c.2419A>T (p.Thr807Ser)
c.2407A>T (p.Thr803Ser)
11g.22276180C>ACA379924689ANO5n.518C>A
c.2051C>A (p.Thr684Asn)
c.2459C>A (p.Thr820Asn)
c.2372+1433C>A (n.2372+1433C>A)
n.3495C>A
c.2456C>A (p.Thr819Asn)
c.2501C>A (p.Thr834Asn)
n.2836C>A
c.2498C>A (p.Thr833Asn)
c.2423C>A (p.Thr808Asn)
c.2420C>A (p.Thr807Asn)
c.2408C>A (p.Thr803Asn)
11g.22276180C>GCA379924690ANO5n.518C>G
c.2051C>G (p.Thr684Ser)
c.2459C>G (p.Thr820Ser)
c.2372+1433C>G (n.2372+1433C>G)
n.3495C>G
c.2456C>G (p.Thr819Ser)
c.2501C>G (p.Thr834Ser)
n.2836C>G
c.2498C>G (p.Thr833Ser)
c.2423C>G (p.Thr808Ser)
c.2420C>G (p.Thr807Ser)
c.2408C>G (p.Thr803Ser)
11g.22276180C>TCA379924691ANO5n.518C>T
c.2051C>T (p.Thr684Ile)
c.2459C>T (p.Thr820Ile)
c.2372+1433C>T (n.2372+1433C>T)
n.3495C>T
c.2456C>T (p.Thr819Ile)
c.2501C>T (p.Thr834Ile)
n.2836C>T
c.2498C>T (p.Thr833Ile)
c.2423C>T (p.Thr808Ile)
c.2420C>T (p.Thr807Ile)
c.2408C>T (p.Thr803Ile)
11g.22276180_22276181delinsCCCA1957408504ANO5n.518_519delinsCC
c.2051_2052delinsCC (p.Thr684=)
c.2459_2460delinsCC (p.Thr820=)
c.2372+1433_2372+1434delinsCC (n.2372+1433_2372+1434delinsCC)
n.3495_3496delinsCC
c.2456_2457delinsCC (p.Thr819=)
c.2501_2502delinsCC (p.Thr834=)
n.2836_2837delinsCC
c.2498_2499delinsCC (p.Thr833=)
c.2423_2424delinsCC (p.Thr808=)
c.2420_2421delinsCC (p.Thr807=)
c.2408_2409delinsCC (p.Thr803=)
11g.22276180_22276181delinsTGCA1957408503ANO5n.518_519delinsTG
c.2051_2052delinsTG (p.Thr684Met)
c.2459_2460delinsTG (p.Thr820Met)
c.2372+1433_2372+1434delinsTG (n.2372+1433_2372+1434delinsTG)
n.3495_3496delinsTG
c.2456_2457delinsTG (p.Thr819Met)
c.2501_2502delinsTG (p.Thr834Met)
n.2836_2837delinsTG
c.2498_2499delinsTG (p.Thr833Met)
c.2423_2424delinsTG (p.Thr808Met)
c.2420_2421delinsTG (p.Thr807Met)
c.2408_2409delinsTG (p.Thr803Met)
 ClinVar dbSNP
11g.22276180_22276183delinsCCTTCA1957408501ANO5n.518_521delinsCCTT
c.2051_2054delinsCCTT (p.Thr684=)
c.2459_2462delinsCCTT (p.Thr820=)
c.2372+1433_2372+1436delinsCCTT (n.2372+1433_2372+1436delinsCCTT)
n.3495_3498delinsCCTT
c.2456_2459delinsCCTT (p.Thr819=)
c.2501_2504delinsCCTT (p.Thr834=)
n.2836_2839delinsCCTT
c.2498_2501delinsCCTT (p.Thr833=)
c.2423_2426delinsCCTT (p.Thr808=)
c.2420_2423delinsCCTT (p.Thr807=)
c.2408_2411delinsCCTT (p.Thr803=)
11g.22276181C>ACA473409093ANO5n.519C>A
c.2052C>A (p.Thr684=)
c.2460C>A (p.Thr820=)
c.2372+1434C>A (n.2372+1434C>A)
n.3496C>A
c.2457C>A (p.Thr819=)
c.2502C>A (p.Thr834=)
n.2837C>A
c.2499C>A (p.Thr833=)
c.2424C>A (p.Thr808=)
c.2421C>A (p.Thr807=)
c.2409C>A (p.Thr803=)
11g.22276181C>GCA473409094ANO5n.519C>G
c.2052C>G (p.Thr684=)
c.2460C>G (p.Thr820=)
c.2372+1434C>G (n.2372+1434C>G)
n.3496C>G
c.2457C>G (p.Thr819=)
c.2502C>G (p.Thr834=)
n.2837C>G
c.2499C>G (p.Thr833=)
c.2424C>G (p.Thr808=)
c.2421C>G (p.Thr807=)
c.2409C>G (p.Thr803=)
 gnomAD v4
11g.22276181C>TCA473409096ANO5n.519C>T
c.2052C>T (p.Thr684=)
c.2460C>T (p.Thr820=)
c.2372+1434C>T (n.2372+1434C>T)
n.3496C>T
c.2457C>T (p.Thr819=)
c.2502C>T (p.Thr834=)
n.2837C>T
c.2499C>T (p.Thr833=)
c.2424C>T (p.Thr808=)
c.2421C>T (p.Thr807=)
c.2409C>T (p.Thr803=)
11g.22276182_22276184delCA242118ANO5n.520_522del
c.2053_2055del (p.Phe685del)
c.2461_2463del (p.Phe821del)
c.2372+1435_2372+1437del (n.2372+1435_2372+1437del)
n.3497_3499del
c.2458_2460del (p.Phe820del)
c.2503_2505del (p.Phe835del)
n.2838_2840del
c.2500_2502del (p.Phe834del)
c.2425_2427del (p.Phe809del)
c.2422_2424del (p.Phe808del)
c.2410_2412del (p.Phe804del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22276182T>ACA379924692ANO5n.520T>A
c.2053T>A (p.Phe685Ile)
c.2461T>A (p.Phe821Ile)
c.2372+1435T>A (n.2372+1435T>A)
n.3497T>A
c.2458T>A (p.Phe820Ile)
c.2503T>A (p.Phe835Ile)
n.2838T>A
c.2500T>A (p.Phe834Ile)
c.2425T>A (p.Phe809Ile)
c.2422T>A (p.Phe808Ile)
c.2410T>A (p.Phe804Ile)
 ClinVar dbSNP gnomAD v4
11g.22276182T>CCA379924693ANO5n.520T>C
c.2053T>C (p.Phe685Leu)
c.2461T>C (p.Phe821Leu)
c.2372+1435T>C (n.2372+1435T>C)
n.3497T>C
c.2458T>C (p.Phe820Leu)
c.2503T>C (p.Phe835Leu)
n.2838T>C
c.2500T>C (p.Phe834Leu)
c.2425T>C (p.Phe809Leu)
c.2422T>C (p.Phe808Leu)
c.2410T>C (p.Phe804Leu)
11g.22276182T>GCA218777876ANO5n.520T>G
c.2053T>G (p.Phe685Val)
c.2461T>G (p.Phe821Val)
c.2372+1435T>G (n.2372+1435T>G)
n.3497T>G
c.2458T>G (p.Phe820Val)
c.2503T>G (p.Phe835Val)
n.2838T>G
c.2500T>G (p.Phe834Val)
c.2425T>G (p.Phe809Val)
c.2422T>G (p.Phe808Val)
c.2410T>G (p.Phe804Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.22276182T=CA1957408513ANO5n.520T=
c.2053T= (p.Phe685=)
c.2461T= (p.Phe821=)
c.2372+1435T= (n.2372+1435T=)
n.3497T=
c.2458T= (p.Phe820=)
c.2503T= (p.Phe835=)
n.2838T=
c.2500T= (p.Phe834=)
c.2425T= (p.Phe809=)
c.2422T= (p.Phe808=)
c.2410T= (p.Phe804=)
11g.22276182_22276183insCCA2569173451ANO5n.520_521insC
c.2053_2054insC (p.Phe685SerfsTer13)
c.2461_2462insC (p.Phe821SerfsTer13)
c.2372+1435_2372+1436insC (n.2372+1435_2372+1436insC)
n.3497_3498insC
c.2458_2459insC (p.Phe820SerfsTer13)
c.2503_2504insC (p.Phe835SerfsTer13)
n.2838_2839insC
c.2500_2501insC (p.Phe834SerfsTer13)
c.2425_2426insC (p.Phe809SerfsTer13)
c.2422_2423insC (p.Phe808SerfsTer13)
c.2410_2411insC (p.Phe804SerfsTer13)
11g.22276183T>ACA379924694ANO5n.521T>A
c.2054T>A (p.Phe685Tyr)
c.2462T>A (p.Phe821Tyr)
c.2372+1436T>A (n.2372+1436T>A)
n.3498T>A
c.2459T>A (p.Phe820Tyr)
c.2504T>A (p.Phe835Tyr)
n.2839T>A
c.2501T>A (p.Phe834Tyr)
c.2426T>A (p.Phe809Tyr)
c.2423T>A (p.Phe808Tyr)
c.2411T>A (p.Phe804Tyr)
11g.22276183T>CCA379924695ANO5n.521T>C
c.2054T>C (p.Phe685Ser)
c.2462T>C (p.Phe821Ser)
c.2372+1436T>C (n.2372+1436T>C)
n.3498T>C
c.2459T>C (p.Phe820Ser)
c.2504T>C (p.Phe835Ser)
n.2839T>C
c.2501T>C (p.Phe834Ser)
c.2426T>C (p.Phe809Ser)
c.2423T>C (p.Phe808Ser)
c.2411T>C (p.Phe804Ser)
11g.22276183T>GCA379924696ANO5n.521T>G
c.2054T>G (p.Phe685Cys)
c.2462T>G (p.Phe821Cys)
c.2372+1436T>G (n.2372+1436T>G)
n.3498T>G
c.2459T>G (p.Phe820Cys)
c.2504T>G (p.Phe835Cys)
n.2839T>G
c.2501T>G (p.Phe834Cys)
c.2426T>G (p.Phe809Cys)
c.2423T>G (p.Phe808Cys)
c.2411T>G (p.Phe804Cys)
11g.22276187_22276189delCA2612838091ANO5n.525_527del
c.2058_2060del (p.Ile687del)
c.2466_2468del (p.Ile823del)
c.2372+1440_2372+1442del (n.2372+1440_2372+1442del)
n.3502_3504del
c.2463_2465del (p.Ile822del)
c.2508_2510del (p.Ile837del)
n.2843_2845del
c.2505_2507del (p.Ile836del)
c.2430_2432del (p.Ile811del)
c.2427_2429del (p.Ile810del)
c.2415_2417del (p.Ile806del)
 gnomAD v4
11g.22276184C>ACA379924697ANO5n.522C>A
c.2055C>A (p.Phe685Leu)
c.2463C>A (p.Phe821Leu)
c.2372+1437C>A (n.2372+1437C>A)
n.3499C>A
c.2460C>A (p.Phe820Leu)
c.2505C>A (p.Phe835Leu)
n.2840C>A
c.2502C>A (p.Phe834Leu)
c.2427C>A (p.Phe809Leu)
c.2424C>A (p.Phe808Leu)
c.2412C>A (p.Phe804Leu)
 gnomAD v4
11g.22276184C>GCA379924698ANO5n.522C>G
c.2055C>G (p.Phe685Leu)
c.2463C>G (p.Phe821Leu)
c.2372+1437C>G (n.2372+1437C>G)
n.3499C>G
c.2460C>G (p.Phe820Leu)
c.2505C>G (p.Phe835Leu)
n.2840C>G
c.2502C>G (p.Phe834Leu)
c.2427C>G (p.Phe809Leu)
c.2424C>G (p.Phe808Leu)
c.2412C>G (p.Phe804Leu)
11g.22276184C>TCA473409107ANO5n.522C>T
c.2055C>T (p.Phe685=)
c.2463C>T (p.Phe821=)
c.2372+1437C>T (n.2372+1437C>T)
n.3499C>T
c.2460C>T (p.Phe820=)
c.2505C>T (p.Phe835=)
n.2840C>T
c.2502C>T (p.Phe834=)
c.2427C>T (p.Phe809=)
c.2424C>T (p.Phe808=)
c.2412C>T (p.Phe804=)
11g.22276185A>CCA379924699ANO5n.523A>C
c.2056A>C (p.Ile686Leu)
c.2464A>C (p.Ile822Leu)
c.2372+1438A>C (n.2372+1438A>C)
n.3500A>C
c.2461A>C (p.Ile821Leu)
c.2506A>C (p.Ile836Leu)
n.2841A>C
c.2503A>C (p.Ile835Leu)
c.2428A>C (p.Ile810Leu)
c.2425A>C (p.Ile809Leu)
c.2413A>C (p.Ile805Leu)
11g.22276185A>GCA379924700ANO5n.523A>G
c.2056A>G (p.Ile686Val)
c.2464A>G (p.Ile822Val)
c.2372+1438A>G (n.2372+1438A>G)
n.3500A>G
c.2461A>G (p.Ile821Val)
c.2506A>G (p.Ile836Val)
n.2841A>G
c.2503A>G (p.Ile835Val)
c.2428A>G (p.Ile810Val)
c.2425A>G (p.Ile809Val)
c.2413A>G (p.Ile805Val)
 gnomAD v4
11g.22276185A>TCA379924701ANO5n.523A>T
c.2056A>T (p.Ile686Phe)
c.2464A>T (p.Ile822Phe)
c.2372+1438A>T (n.2372+1438A>T)
n.3500A>T
c.2461A>T (p.Ile821Phe)
c.2506A>T (p.Ile836Phe)
n.2841A>T
c.2503A>T (p.Ile835Phe)
c.2428A>T (p.Ile810Phe)
c.2425A>T (p.Ile809Phe)
c.2413A>T (p.Ile805Phe)
11g.22276186T>ACA379924702ANO5n.524T>A
c.2057T>A (p.Ile686Asn)
c.2465T>A (p.Ile822Asn)
c.2372+1439T>A (n.2372+1439T>A)
n.3501T>A
c.2462T>A (p.Ile821Asn)
c.2507T>A (p.Ile836Asn)
n.2842T>A
c.2504T>A (p.Ile835Asn)
c.2429T>A (p.Ile810Asn)
c.2426T>A (p.Ile809Asn)
c.2414T>A (p.Ile805Asn)
11g.22276186T>CCA5923599ANO5n.524T>C
c.2057T>C (p.Ile686Thr)
c.2465T>C (p.Ile822Thr)
c.2372+1439T>C (n.2372+1439T>C)
n.3501T>C
c.2462T>C (p.Ile821Thr)
c.2507T>C (p.Ile836Thr)
n.2842T>C
c.2504T>C (p.Ile835Thr)
c.2429T>C (p.Ile810Thr)
c.2426T>C (p.Ile809Thr)
c.2414T>C (p.Ile805Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22276186T>GCA379924703ANO5n.524T>G
c.2057T>G (p.Ile686Ser)
c.2465T>G (p.Ile822Ser)
c.2372+1439T>G (n.2372+1439T>G)
n.3501T>G
c.2462T>G (p.Ile821Ser)
c.2507T>G (p.Ile836Ser)
n.2842T>G
c.2504T>G (p.Ile835Ser)
c.2429T>G (p.Ile810Ser)
c.2426T>G (p.Ile809Ser)
c.2414T>G (p.Ile805Ser)
11g.22276186T=CA1957408515ANO5n.524T=
c.2057T= (p.Ile686=)
c.2465T= (p.Ile822=)
c.2372+1439T= (n.2372+1439T=)
n.3501T=
c.2462T= (p.Ile821=)
c.2507T= (p.Ile836=)
n.2842T=
c.2504T= (p.Ile835=)
c.2429T= (p.Ile810=)
c.2426T= (p.Ile809=)
c.2414T= (p.Ile805=)
11g.22276187C>ACA473409115ANO5n.525C>A
c.2058C>A (p.Ile686=)
c.2466C>A (p.Ile822=)
c.2372+1440C>A (n.2372+1440C>A)
n.3502C>A
c.2463C>A (p.Ile821=)
c.2508C>A (p.Ile836=)
n.2843C>A
c.2505C>A (p.Ile835=)
c.2430C>A (p.Ile810=)
c.2427C>A (p.Ile809=)
c.2415C>A (p.Ile805=)
11g.22276187C>GCA379924704ANO5n.525C>G
c.2058C>G (p.Ile686Met)
c.2466C>G (p.Ile822Met)
c.2372+1440C>G (n.2372+1440C>G)
n.3502C>G
c.2463C>G (p.Ile821Met)
c.2508C>G (p.Ile836Met)
n.2843C>G
c.2505C>G (p.Ile835Met)
c.2430C>G (p.Ile810Met)
c.2427C>G (p.Ile809Met)
c.2415C>G (p.Ile805Met)
 gnomAD v4
11g.22276187C>TCA473409117ANO5n.525C>T
c.2058C>T (p.Ile686=)
c.2466C>T (p.Ile822=)
c.2372+1440C>T (n.2372+1440C>T)
n.3502C>T
c.2463C>T (p.Ile821=)
c.2508C>T (p.Ile836=)
n.2843C>T
c.2505C>T (p.Ile835=)
c.2430C>T (p.Ile810=)
c.2427C>T (p.Ile809=)
c.2415C>T (p.Ile805=)
11g.22276188A>CCA379924707ANO5n.526A>C
c.2059A>C (p.Ile687Leu)
c.2467A>C (p.Ile823Leu)
c.2372+1441A>C (n.2372+1441A>C)
n.3503A>C
c.2464A>C (p.Ile822Leu)
c.2509A>C (p.Ile837Leu)
n.2844A>C
c.2506A>C (p.Ile836Leu)
c.2431A>C (p.Ile811Leu)
c.2428A>C (p.Ile810Leu)
c.2416A>C (p.Ile806Leu)
11g.22276188A>GCA379924706ANO5n.526A>G
c.2059A>G (p.Ile687Val)
c.2467A>G (p.Ile823Val)
c.2372+1441A>G (n.2372+1441A>G)
n.3503A>G
c.2464A>G (p.Ile822Val)
c.2509A>G (p.Ile837Val)
n.2844A>G
c.2506A>G (p.Ile836Val)
c.2431A>G (p.Ile811Val)
c.2428A>G (p.Ile810Val)
c.2416A>G (p.Ile806Val)
 ClinVar gnomAD v4
11g.22276188A>TCA379924705ANO5n.526A>T
c.2059A>T (p.Ile687Phe)
c.2467A>T (p.Ile823Phe)
c.2372+1441A>T (n.2372+1441A>T)
n.3503A>T
c.2464A>T (p.Ile822Phe)
c.2509A>T (p.Ile837Phe)
n.2844A>T
c.2506A>T (p.Ile836Phe)
c.2431A>T (p.Ile811Phe)
c.2428A>T (p.Ile810Phe)
c.2416A>T (p.Ile806Phe)
11g.22276189T>ACA379924708ANO5n.527T>A
c.2060T>A (p.Ile687Asn)
c.2468T>A (p.Ile823Asn)
c.2372+1442T>A (n.2372+1442T>A)
n.3504T>A
c.2465T>A (p.Ile822Asn)
c.2510T>A (p.Ile837Asn)
n.2845T>A
c.2507T>A (p.Ile836Asn)
c.2432T>A (p.Ile811Asn)
c.2429T>A (p.Ile810Asn)
c.2417T>A (p.Ile806Asn)
11g.22276189T>CCA379924709ANO5n.527T>C
c.2060T>C (p.Ile687Thr)
c.2468T>C (p.Ile823Thr)
c.2372+1442T>C (n.2372+1442T>C)
n.3504T>C
c.2465T>C (p.Ile822Thr)
c.2510T>C (p.Ile837Thr)
n.2845T>C
c.2507T>C (p.Ile836Thr)
c.2432T>C (p.Ile811Thr)
c.2429T>C (p.Ile810Thr)
c.2417T>C (p.Ile806Thr)
11g.22276189T>GCA379924710ANO5n.527T>G
c.2060T>G (p.Ile687Ser)
c.2468T>G (p.Ile823Ser)
c.2372+1442T>G (n.2372+1442T>G)
n.3504T>G
c.2465T>G (p.Ile822Ser)
c.2510T>G (p.Ile837Ser)
n.2845T>G
c.2507T>G (p.Ile836Ser)
c.2432T>G (p.Ile811Ser)
c.2429T>G (p.Ile810Ser)
c.2417T>G (p.Ile806Ser)
11g.22276190T>ACA473409126ANO5n.528T>A
c.2061T>A (p.Ile687=)
c.2469T>A (p.Ile823=)
c.2372+1443T>A (n.2372+1443T>A)
n.3505T>A
c.2466T>A (p.Ile822=)
c.2511T>A (p.Ile837=)
n.2846T>A
c.2508T>A (p.Ile836=)
c.2433T>A (p.Ile811=)
c.2430T>A (p.Ile810=)
c.2418T>A (p.Ile806=)
11g.22276190T>CCA473409129ANO5n.528T>C
c.2061T>C (p.Ile687=)
c.2469T>C (p.Ile823=)
c.2372+1443T>C (n.2372+1443T>C)
n.3505T>C
c.2466T>C (p.Ile822=)
c.2511T>C (p.Ile837=)
n.2846T>C
c.2508T>C (p.Ile836=)
c.2433T>C (p.Ile811=)
c.2430T>C (p.Ile810=)
c.2418T>C (p.Ile806=)
11g.22276190T>GCA379924711ANO5n.528T>G
c.2061T>G (p.Ile687Met)
c.2469T>G (p.Ile823Met)
c.2372+1443T>G (n.2372+1443T>G)
n.3505T>G
c.2466T>G (p.Ile822Met)
c.2511T>G (p.Ile837Met)
n.2846T>G
c.2508T>G (p.Ile836Met)
c.2433T>G (p.Ile811Met)
c.2430T>G (p.Ile810Met)
c.2418T>G (p.Ile806Met)
11g.22276191G>ACA379924712ANO5n.529G>A
c.2062G>A (p.Val688Ile)
c.2470G>A (p.Val824Ile)
c.2372+1444G>A (n.2372+1444G>A)
n.3506G>A
c.2467G>A (p.Val823Ile)
c.2512G>A (p.Val838Ile)
n.2847G>A
c.2509G>A (p.Val837Ile)
c.2434G>A (p.Val812Ile)
c.2431G>A (p.Val811Ile)
c.2419G>A (p.Val807Ile)
 COSMIC
11g.22276191G>CCA379924713ANO5n.529G>C
c.2062G>C (p.Val688Leu)
c.2470G>C (p.Val824Leu)
c.2372+1444G>C (n.2372+1444G>C)
n.3506G>C
c.2467G>C (p.Val823Leu)
c.2512G>C (p.Val838Leu)
n.2847G>C
c.2509G>C (p.Val837Leu)
c.2434G>C (p.Val812Leu)
c.2431G>C (p.Val811Leu)
c.2419G>C (p.Val807Leu)
11g.22276191G>TCA379924714ANO5n.529G>T
c.2062G>T (p.Val688Phe)
c.2470G>T (p.Val824Phe)
c.2372+1444G>T (n.2372+1444G>T)
n.3506G>T
c.2467G>T (p.Val823Phe)
c.2512G>T (p.Val838Phe)
n.2847G>T
c.2509G>T (p.Val837Phe)
c.2434G>T (p.Val812Phe)
c.2431G>T (p.Val811Phe)
c.2419G>T (p.Val807Phe)
 gnomAD v4
11g.22276192T>ACA379924715ANO5n.530T>A
c.2063T>A (p.Val688Asp)
c.2471T>A (p.Val824Asp)
c.2372+1445T>A (n.2372+1445T>A)
n.3507T>A
c.2468T>A (p.Val823Asp)
c.2513T>A (p.Val838Asp)
n.2848T>A
c.2510T>A (p.Val837Asp)
c.2435T>A (p.Val812Asp)
c.2432T>A (p.Val811Asp)
c.2420T>A (p.Val807Asp)
11g.22276192T>CCA379924716ANO5n.530T>C
c.2063T>C (p.Val688Ala)
c.2471T>C (p.Val824Ala)
c.2372+1445T>C (n.2372+1445T>C)
n.3507T>C
c.2468T>C (p.Val823Ala)
c.2513T>C (p.Val838Ala)
n.2848T>C
c.2510T>C (p.Val837Ala)
c.2435T>C (p.Val812Ala)
c.2432T>C (p.Val811Ala)
c.2420T>C (p.Val807Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.22276192T>GCA379924717ANO5n.530T>G
c.2063T>G (p.Val688Gly)
c.2471T>G (p.Val824Gly)
c.2372+1445T>G (n.2372+1445T>G)
n.3507T>G
c.2468T>G (p.Val823Gly)
c.2513T>G (p.Val838Gly)
n.2848T>G
c.2510T>G (p.Val837Gly)
c.2435T>G (p.Val812Gly)
c.2432T>G (p.Val811Gly)
c.2420T>G (p.Val807Gly)
11g.22276192T=CA1957408521ANO5n.530T=
c.2063T= (p.Val688=)
c.2471T= (p.Val824=)
c.2372+1445T= (n.2372+1445T=)
n.3507T=
c.2468T= (p.Val823=)
c.2513T= (p.Val838=)
n.2848T=
c.2510T= (p.Val837=)
c.2435T= (p.Val812=)
c.2432T= (p.Val811=)
c.2420T= (p.Val807=)
11g.22276193T>ACA473409137ANO5n.531T>A
c.2064T>A (p.Val688=)
c.2472T>A (p.Val824=)
c.2372+1446T>A (n.2372+1446T>A)
n.3508T>A
c.2469T>A (p.Val823=)
c.2514T>A (p.Val838=)
n.2849T>A
c.2511T>A (p.Val837=)
c.2436T>A (p.Val812=)
c.2433T>A (p.Val811=)
c.2421T>A (p.Val807=)
11g.22276193T>CCA473409139ANO5n.531T>C
c.2064T>C (p.Val688=)
c.2472T>C (p.Val824=)
c.2372+1446T>C (n.2372+1446T>C)
n.3508T>C
c.2469T>C (p.Val823=)
c.2514T>C (p.Val838=)
n.2849T>C
c.2511T>C (p.Val837=)
c.2436T>C (p.Val812=)
c.2433T>C (p.Val811=)
c.2421T>C (p.Val807=)
11g.22276193T>GCA473409141ANO5n.531T>G
c.2064T>G (p.Val688=)
c.2472T>G (p.Val824=)
c.2372+1446T>G (n.2372+1446T>G)
n.3508T>G
c.2469T>G (p.Val823=)
c.2514T>G (p.Val838=)
n.2849T>G
c.2511T>G (p.Val837=)
c.2436T>G (p.Val812=)
c.2433T>G (p.Val811=)
c.2421T>G (p.Val807=)
11g.22276194A=CA1957408524ANO5n.532A=
c.2065A= (p.Met689=)
c.2473A= (p.Met825=)
c.2372+1447A= (n.2372+1447A=)
n.3509A=
c.2470A= (p.Met824=)
c.2515A= (p.Met839=)
n.2850A=
c.2512A= (p.Met838=)
c.2437A= (p.Met813=)
c.2434A= (p.Met812=)
c.2422A= (p.Met808=)
11g.22276194A>CCA379924718ANO5n.532A>C
c.2065A>C (p.Met689Leu)
c.2473A>C (p.Met825Leu)
c.2372+1447A>C (n.2372+1447A>C)
n.3509A>C
c.2470A>C (p.Met824Leu)
c.2515A>C (p.Met839Leu)
n.2850A>C
c.2512A>C (p.Met838Leu)
c.2437A>C (p.Met813Leu)
c.2434A>C (p.Met812Leu)
c.2422A>C (p.Met808Leu)
11g.22276194A>GCA379924719ANO5n.532A>G
c.2065A>G (p.Met689Val)
c.2473A>G (p.Met825Val)
c.2372+1447A>G (n.2372+1447A>G)
n.3509A>G
c.2470A>G (p.Met824Val)
c.2515A>G (p.Met839Val)
n.2850A>G
c.2512A>G (p.Met838Val)
c.2437A>G (p.Met813Val)
c.2434A>G (p.Met812Val)
c.2422A>G (p.Met808Val)
 dbSNP gnomAD v2 gnomAD v4
11g.22276194A>TCA379924720ANO5n.532A>T
c.2065A>T (p.Met689Leu)
c.2473A>T (p.Met825Leu)
c.2372+1447A>T (n.2372+1447A>T)
n.3509A>T
c.2470A>T (p.Met824Leu)
c.2515A>T (p.Met839Leu)
n.2850A>T
c.2512A>T (p.Met838Leu)
c.2437A>T (p.Met813Leu)
c.2434A>T (p.Met812Leu)
c.2422A>T (p.Met808Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.22276195T>ACA379924722ANO5n.533T>A
c.2066T>A (p.Met689Lys)
c.2474T>A (p.Met825Lys)
c.2372+1448T>A (n.2372+1448T>A)
n.3510T>A
c.2471T>A (p.Met824Lys)
c.2516T>A (p.Met839Lys)
n.2851T>A
c.2513T>A (p.Met838Lys)
c.2438T>A (p.Met813Lys)
c.2435T>A (p.Met812Lys)
c.2423T>A (p.Met808Lys)
11g.22276195T>CCA5923600ANO5n.533T>C
c.2066T>C (p.Met689Thr)
c.2474T>C (p.Met825Thr)
c.2372+1448T>C (n.2372+1448T>C)
n.3510T>C
c.2471T>C (p.Met824Thr)
c.2516T>C (p.Met839Thr)
n.2851T>C
c.2513T>C (p.Met838Thr)
c.2438T>C (p.Met813Thr)
c.2435T>C (p.Met812Thr)
c.2423T>C (p.Met808Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22276195T>GCA379924721ANO5n.533T>G
c.2066T>G (p.Met689Arg)
c.2474T>G (p.Met825Arg)
c.2372+1448T>G (n.2372+1448T>G)
n.3510T>G
c.2471T>G (p.Met824Arg)
c.2516T>G (p.Met839Arg)
n.2851T>G
c.2513T>G (p.Met838Arg)
c.2438T>G (p.Met813Arg)
c.2435T>G (p.Met812Arg)
c.2423T>G (p.Met808Arg)
 dbSNP gnomAD v4
11g.22276195T=CA1957408528ANO5n.533T=
c.2066T= (p.Met689=)
c.2474T= (p.Met825=)
c.2372+1448T= (n.2372+1448T=)
n.3510T=
c.2471T= (p.Met824=)
c.2516T= (p.Met839=)
n.2851T=
c.2513T= (p.Met838=)
c.2438T= (p.Met813=)
c.2435T= (p.Met812=)
c.2423T= (p.Met808=)
11g.22276196G>ACA379924723ANO5n.534G>A
c.2067G>A (p.Met689Ile)
c.2475G>A (p.Met825Ile)
c.2372+1449G>A (n.2372+1449G>A)
n.3511G>A
c.2472G>A (p.Met824Ile)
c.2517G>A (p.Met839Ile)
n.2852G>A
c.2514G>A (p.Met838Ile)
c.2439G>A (p.Met813Ile)
c.2436G>A (p.Met812Ile)
c.2424G>A (p.Met808Ile)
 gnomAD v4
11g.22276196G>CCA379924724ANO5n.534G>C
c.2067G>C (p.Met689Ile)
c.2475G>C (p.Met825Ile)
c.2372+1449G>C (n.2372+1449G>C)
n.3511G>C
c.2472G>C (p.Met824Ile)
c.2517G>C (p.Met839Ile)
n.2852G>C
c.2514G>C (p.Met838Ile)
c.2439G>C (p.Met813Ile)
c.2436G>C (p.Met812Ile)
c.2424G>C (p.Met808Ile)
11g.22276196G>TCA379924725ANO5n.534G>T
c.2067G>T (p.Met689Ile)
c.2475G>T (p.Met825Ile)
c.2372+1449G>T (n.2372+1449G>T)
n.3511G>T
c.2472G>T (p.Met824Ile)
c.2517G>T (p.Met839Ile)
n.2852G>T
c.2514G>T (p.Met838Ile)
c.2439G>T (p.Met813Ile)
c.2436G>T (p.Met812Ile)
c.2424G>T (p.Met808Ile)
 gnomAD v4
11g.22276197G>ACA379924726ANO5n.535G>A
c.2068G>A (p.Glu690Lys)
c.2476G>A (p.Glu826Lys)
c.2372+1450G>A (n.2372+1450G>A)
n.3512G>A
c.2473G>A (p.Glu825Lys)
c.2518G>A (p.Glu840Lys)
n.2853G>A
c.2515G>A (p.Glu839Lys)
c.2440G>A (p.Glu814Lys)
c.2437G>A (p.Glu813Lys)
c.2425G>A (p.Glu809Lys)
11g.22276197G>CCA379924727ANO5n.535G>C
c.2068G>C (p.Glu690Gln)
c.2476G>C (p.Glu826Gln)
c.2372+1450G>C (n.2372+1450G>C)
n.3512G>C
c.2473G>C (p.Glu825Gln)
c.2518G>C (p.Glu840Gln)
n.2853G>C
c.2515G>C (p.Glu839Gln)
c.2440G>C (p.Glu814Gln)
c.2437G>C (p.Glu813Gln)
c.2425G>C (p.Glu809Gln)
11g.22276197G>TCA379924728ANO5n.535G>T
c.2068G>T (p.Glu690Ter)
c.2476G>T (p.Glu826Ter)
c.2372+1450G>T (n.2372+1450G>T)
n.3512G>T
c.2473G>T (p.Glu825Ter)
c.2518G>T (p.Glu840Ter)
n.2853G>T
c.2515G>T (p.Glu839Ter)
c.2440G>T (p.Glu814Ter)
c.2437G>T (p.Glu813Ter)
c.2425G>T (p.Glu809Ter)
11g.22276198A>CCA379924729ANO5n.536A>C
c.2069A>C (p.Glu690Ala)
c.2477A>C (p.Glu826Ala)
c.2372+1451A>C (n.2372+1451A>C)
n.3513A>C
c.2474A>C (p.Glu825Ala)
c.2519A>C (p.Glu840Ala)
n.2854A>C
c.2516A>C (p.Glu839Ala)
c.2441A>C (p.Glu814Ala)
c.2438A>C (p.Glu813Ala)
c.2426A>C (p.Glu809Ala)
11g.22276198A>GCA379924730ANO5n.536A>G
c.2069A>G (p.Glu690Gly)
c.2477A>G (p.Glu826Gly)
c.2372+1451A>G (n.2372+1451A>G)
n.3513A>G
c.2474A>G (p.Glu825Gly)
c.2519A>G (p.Glu840Gly)
n.2854A>G
c.2516A>G (p.Glu839Gly)
c.2441A>G (p.Glu814Gly)
c.2438A>G (p.Glu813Gly)
c.2426A>G (p.Glu809Gly)
11g.22276198A>TCA379924731ANO5n.536A>T
c.2069A>T (p.Glu690Val)
c.2477A>T (p.Glu826Val)
c.2372+1451A>T (n.2372+1451A>T)
n.3513A>T
c.2474A>T (p.Glu825Val)
c.2519A>T (p.Glu840Val)
n.2854A>T
c.2516A>T (p.Glu839Val)
c.2441A>T (p.Glu814Val)
c.2438A>T (p.Glu813Val)
c.2426A>T (p.Glu809Val)
11g.22276199A>CCA379924732ANO5n.537A>C
c.2070A>C (p.Glu690Asp)
c.2478A>C (p.Glu826Asp)
c.2372+1452A>C (n.2372+1452A>C)
n.3514A>C
c.2475A>C (p.Glu825Asp)
c.2520A>C (p.Glu840Asp)
n.2855A>C
c.2517A>C (p.Glu839Asp)
c.2442A>C (p.Glu814Asp)
c.2439A>C (p.Glu813Asp)
c.2427A>C (p.Glu809Asp)
11g.22276199A>GCA473409156ANO5n.537A>G
c.2070A>G (p.Glu690=)
c.2478A>G (p.Glu826=)
c.2372+1452A>G (n.2372+1452A>G)
n.3514A>G
c.2475A>G (p.Glu825=)
c.2520A>G (p.Glu840=)
n.2855A>G
c.2517A>G (p.Glu839=)
c.2442A>G (p.Glu814=)
c.2439A>G (p.Glu813=)
c.2427A>G (p.Glu809=)
11g.22276199A>TCA379924733ANO5n.537A>T
c.2070A>T (p.Glu690Asp)
c.2478A>T (p.Glu826Asp)
c.2372+1452A>T (n.2372+1452A>T)
n.3514A>T
c.2475A>T (p.Glu825Asp)
c.2520A>T (p.Glu840Asp)
n.2855A>T
c.2517A>T (p.Glu839Asp)
c.2442A>T (p.Glu814Asp)
c.2439A>T (p.Glu813Asp)
c.2427A>T (p.Glu809Asp)
11g.22276200G>ACA379924736ANO5n.537+1G>A
c.2070+1G>A (n.2070+1G>A)
c.2478+1G>A (n.2478+1G>A)
c.2372+1453G>A (n.2372+1453G>A)
n.3514+1G>A
c.2475+1G>A (n.2475+1G>A)
c.2520+1G>A (n.2520+1G>A)
n.2855+1G>A
c.2517+1G>A (n.2517+1G>A)
c.2442+1G>A (n.2442+1G>A)
c.2439+1G>A (n.2439+1G>A)
c.2427+1G>A (n.2427+1G>A)
11g.22276200G>CCA379924735ANO5n.537+1G>C
c.2070+1G>C (n.2070+1G>C)
c.2478+1G>C (n.2478+1G>C)
c.2372+1453G>C (n.2372+1453G>C)
n.3514+1G>C
c.2475+1G>C (n.2475+1G>C)
c.2520+1G>C (n.2520+1G>C)
n.2855+1G>C
c.2517+1G>C (n.2517+1G>C)
c.2442+1G>C (n.2442+1G>C)
c.2439+1G>C (n.2439+1G>C)
c.2427+1G>C (n.2427+1G>C)
11g.22276200G>TCA379924734ANO5n.537+1G>T
c.2070+1G>T (n.2070+1G>T)
c.2478+1G>T (n.2478+1G>T)
c.2372+1453G>T (n.2372+1453G>T)
n.3514+1G>T
c.2475+1G>T (n.2475+1G>T)
c.2520+1G>T (n.2520+1G>T)
n.2855+1G>T
c.2517+1G>T (n.2517+1G>T)
c.2442+1G>T (n.2442+1G>T)
c.2439+1G>T (n.2439+1G>T)
c.2427+1G>T (n.2427+1G>T)
11g.22276201T>ACA379924737ANO5n.537+2T>A
c.2070+2T>A (n.2070+2T>A)
c.2478+2T>A (n.2478+2T>A)
c.2372+1454T>A (n.2372+1454T>A)
n.3514+2T>A
c.2475+2T>A (n.2475+2T>A)
c.2520+2T>A (n.2520+2T>A)
n.2855+2T>A
c.2517+2T>A (n.2517+2T>A)
c.2442+2T>A (n.2442+2T>A)
c.2439+2T>A (n.2439+2T>A)
c.2427+2T>A (n.2427+2T>A)
11g.22276201T>CCA379924738ANO5n.537+2T>C
c.2070+2T>C (n.2070+2T>C)
c.2478+2T>C (n.2478+2T>C)
c.2372+1454T>C (n.2372+1454T>C)
n.3514+2T>C
c.2475+2T>C (n.2475+2T>C)
c.2520+2T>C (n.2520+2T>C)
n.2855+2T>C
c.2517+2T>C (n.2517+2T>C)
c.2442+2T>C (n.2442+2T>C)
c.2439+2T>C (n.2439+2T>C)
c.2427+2T>C (n.2427+2T>C)
11g.22276201T>GCA379924739ANO5n.537+2T>G
c.2070+2T>G (n.2070+2T>G)
c.2478+2T>G (n.2478+2T>G)
c.2372+1454T>G (n.2372+1454T>G)
n.3514+2T>G
c.2475+2T>G (n.2475+2T>G)
c.2520+2T>G (n.2520+2T>G)
n.2855+2T>G
c.2517+2T>G (n.2517+2T>G)
c.2442+2T>G (n.2442+2T>G)
c.2439+2T>G (n.2439+2T>G)
c.2427+2T>G (n.2427+2T>G)
11g.22276204G>ACA913190245ANO5n.537+5G>A
c.2070+5G>A (n.2070+5G>A)
c.2478+5G>A (n.2478+5G>A)
c.2372+1457G>A (n.2372+1457G>A)
n.3514+5G>A
c.2475+5G>A (n.2475+5G>A)
c.2520+5G>A (n.2520+5G>A)
n.2855+5G>A
c.2517+5G>A (n.2517+5G>A)
c.2442+5G>A (n.2442+5G>A)
c.2439+5G>A (n.2439+5G>A)
c.2427+5G>A (n.2427+5G>A)
 ClinVar dbSNP gnomAD v4
11g.22276204G=CA1957408534ANO5n.537+5G=
c.2070+5G= (n.2070+5G=)
c.2478+5G= (n.2478+5G=)
c.2372+1457G= (n.2372+1457G=)
n.3514+5G=
c.2475+5G= (n.2475+5G=)
c.2520+5G= (n.2520+5G=)
n.2855+5G=
c.2517+5G= (n.2517+5G=)
c.2442+5G= (n.2442+5G=)
c.2439+5G= (n.2439+5G=)
c.2427+5G= (n.2427+5G=)
11g.22276205C>ACA2612838093ANO5n.537+6C>A
c.2070+6C>A (n.2070+6C>A)
c.2478+6C>A (n.2478+6C>A)
c.2372+1458C>A (n.2372+1458C>A)
n.3514+6C>A
c.2475+6C>A (n.2475+6C>A)
c.2520+6C>A (n.2520+6C>A)
n.2855+6C>A
c.2517+6C>A (n.2517+6C>A)
c.2442+6C>A (n.2442+6C>A)
c.2439+6C>A (n.2439+6C>A)
c.2427+6C>A (n.2427+6C>A)
 gnomAD v4
11g.22276205C=CA1957408537ANO5n.537+6C=
c.2070+6C= (n.2070+6C=)
c.2478+6C= (n.2478+6C=)
c.2372+1458C= (n.2372+1458C=)
n.3514+6C=
c.2475+6C= (n.2475+6C=)
c.2520+6C= (n.2520+6C=)
n.2855+6C=
c.2517+6C= (n.2517+6C=)
c.2442+6C= (n.2442+6C=)
c.2439+6C= (n.2439+6C=)
c.2427+6C= (n.2427+6C=)
11g.22276205C>GCA674658294ANO5n.537+6C>G
c.2070+6C>G (n.2070+6C>G)
c.2478+6C>G (n.2478+6C>G)
c.2372+1458C>G (n.2372+1458C>G)
n.3514+6C>G
c.2475+6C>G (n.2475+6C>G)
c.2520+6C>G (n.2520+6C>G)
n.2855+6C>G
c.2517+6C>G (n.2517+6C>G)
c.2442+6C>G (n.2442+6C>G)
c.2439+6C>G (n.2439+6C>G)
c.2427+6C>G (n.2427+6C>G)
 dbSNP
11g.22276205C>TCA10604145ANO5n.537+6C>T
c.2070+6C>T (n.2070+6C>T)
c.2478+6C>T (n.2478+6C>T)
c.2372+1458C>T (n.2372+1458C>T)
n.3514+6C>T
c.2475+6C>T (n.2475+6C>T)
c.2520+6C>T (n.2520+6C>T)
n.2855+6C>T
c.2517+6C>T (n.2517+6C>T)
c.2442+6C>T (n.2442+6C>T)
c.2439+6C>T (n.2439+6C>T)
c.2427+6C>T (n.2427+6C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.22276206T>CCA2562270649ANO5n.537+7T>C
c.2070+7T>C (n.2070+7T>C)
c.2478+7T>C (n.2478+7T>C)
c.2372+1459T>C (n.2372+1459T>C)
n.3514+7T>C
c.2475+7T>C (n.2475+7T>C)
c.2520+7T>C (n.2520+7T>C)
n.2855+7T>C
c.2517+7T>C (n.2517+7T>C)
c.2442+7T>C (n.2442+7T>C)
c.2439+7T>C (n.2439+7T>C)
c.2427+7T>C (n.2427+7T>C)
11g.22276207G>ACA674658299ANO5n.537+8G>A
c.2070+8G>A (n.2070+8G>A)
c.2478+8G>A (n.2478+8G>A)
c.2372+1460G>A (n.2372+1460G>A)
n.3514+8G>A
c.2475+8G>A (n.2475+8G>A)
c.2520+8G>A (n.2520+8G>A)
n.2855+8G>A
c.2517+8G>A (n.2517+8G>A)
c.2442+8G>A (n.2442+8G>A)
c.2439+8G>A (n.2439+8G>A)
c.2427+8G>A (n.2427+8G>A)
 dbSNP
11g.22276207G=CA1957408539ANO5n.537+8G=
c.2070+8G= (n.2070+8G=)
c.2478+8G= (n.2478+8G=)
c.2372+1460G= (n.2372+1460G=)
n.3514+8G=
c.2475+8G= (n.2475+8G=)
c.2520+8G= (n.2520+8G=)
n.2855+8G=
c.2517+8G= (n.2517+8G=)
c.2442+8G= (n.2442+8G=)
c.2439+8G= (n.2439+8G=)
c.2427+8G= (n.2427+8G=)
11g.22276207G>TCA2523932796ANO5n.537+8G>T
c.2070+8G>T (n.2070+8G>T)
c.2478+8G>T (n.2478+8G>T)
c.2372+1460G>T (n.2372+1460G>T)
n.3514+8G>T
c.2475+8G>T (n.2475+8G>T)
c.2520+8G>T (n.2520+8G>T)
n.2855+8G>T
c.2517+8G>T (n.2517+8G>T)
c.2442+8G>T (n.2442+8G>T)
c.2439+8G>T (n.2439+8G>T)
c.2427+8G>T (n.2427+8G>T)
11g.22276208T>CCA597913869ANO5n.537+9T>C
c.2070+9T>C (n.2070+9T>C)
c.2478+9T>C (n.2478+9T>C)
c.2372+1461T>C (n.2372+1461T>C)
n.3514+9T>C
c.2475+9T>C (n.2475+9T>C)
c.2520+9T>C (n.2520+9T>C)
n.2855+9T>C
c.2517+9T>C (n.2517+9T>C)
c.2442+9T>C (n.2442+9T>C)
c.2439+9T>C (n.2439+9T>C)
c.2427+9T>C (n.2427+9T>C)
 dbSNP gnomAD v2 gnomAD v4
11g.22276208T>GCA2790713237ANO5n.537+9T>G
c.2070+9T>G (n.2070+9T>G)
c.2478+9T>G (n.2478+9T>G)
c.2372+1461T>G (n.2372+1461T>G)
n.3514+9T>G
c.2475+9T>G (n.2475+9T>G)
c.2520+9T>G (n.2520+9T>G)
n.2855+9T>G
c.2517+9T>G (n.2517+9T>G)
c.2442+9T>G (n.2442+9T>G)
c.2439+9T>G (n.2439+9T>G)
c.2427+9T>G (n.2427+9T>G)
11g.22276208T=CA1957408540ANO5n.537+9T=
c.2070+9T= (n.2070+9T=)
c.2478+9T= (n.2478+9T=)
c.2372+1461T= (n.2372+1461T=)
n.3514+9T=
c.2475+9T= (n.2475+9T=)
c.2520+9T= (n.2520+9T=)
n.2855+9T=
c.2517+9T= (n.2517+9T=)
c.2442+9T= (n.2442+9T=)
c.2439+9T= (n.2439+9T=)
c.2427+9T= (n.2427+9T=)
11g.22276210C>ACA2612838094ANO5n.537+11C>A
c.2070+11C>A (n.2070+11C>A)
c.2478+11C>A (n.2478+11C>A)
c.2372+1463C>A (n.2372+1463C>A)
n.3514+11C>A
c.2475+11C>A (n.2475+11C>A)
c.2520+11C>A (n.2520+11C>A)
n.2855+11C>A
c.2517+11C>A (n.2517+11C>A)
c.2442+11C>A (n.2442+11C>A)
c.2439+11C>A (n.2439+11C>A)
c.2427+11C>A (n.2427+11C>A)
 gnomAD v4
11g.22276210C=CA1957408542ANO5n.537+11C=
c.2070+11C= (n.2070+11C=)
c.2478+11C= (n.2478+11C=)
c.2372+1463C= (n.2372+1463C=)
n.3514+11C=
c.2475+11C= (n.2475+11C=)
c.2520+11C= (n.2520+11C=)
n.2855+11C=
c.2517+11C= (n.2517+11C=)
c.2442+11C= (n.2442+11C=)
c.2439+11C= (n.2439+11C=)
c.2427+11C= (n.2427+11C=)
11g.22276210C>TCA674658304ANO5n.537+11C>T
c.2070+11C>T (n.2070+11C>T)
c.2478+11C>T (n.2478+11C>T)
c.2372+1463C>T (n.2372+1463C>T)
n.3514+11C>T
c.2475+11C>T (n.2475+11C>T)
c.2520+11C>T (n.2520+11C>T)
n.2855+11C>T
c.2517+11C>T (n.2517+11C>T)
c.2442+11C>T (n.2442+11C>T)
c.2439+11C>T (n.2439+11C>T)
c.2427+11C>T (n.2427+11C>T)
 dbSNP gnomAD v4
11g.22276211T>ACA935871700ANO5n.537+12T>A
c.2070+12T>A (n.2070+12T>A)
c.2478+12T>A (n.2478+12T>A)
c.2372+1464T>A (n.2372+1464T>A)
n.3514+12T>A
c.2475+12T>A (n.2475+12T>A)
c.2520+12T>A (n.2520+12T>A)
n.2855+12T>A
c.2517+12T>A (n.2517+12T>A)
c.2442+12T>A (n.2442+12T>A)
c.2439+12T>A (n.2439+12T>A)
c.2427+12T>A (n.2427+12T>A)
 dbSNP gnomAD v3 gnomAD v4
11g.22276211T>GCA5923601ANO5n.537+12T>G
c.2070+12T>G (n.2070+12T>G)
c.2478+12T>G (n.2478+12T>G)
c.2372+1464T>G (n.2372+1464T>G)
n.3514+12T>G
c.2475+12T>G (n.2475+12T>G)
c.2520+12T>G (n.2520+12T>G)
n.2855+12T>G
c.2517+12T>G (n.2517+12T>G)
c.2442+12T>G (n.2442+12T>G)
c.2439+12T>G (n.2439+12T>G)
c.2427+12T>G (n.2427+12T>G)
 dbSNP ExAC gnomAD v4
11g.22276211T=CA1957408544ANO5n.537+12T=
c.2070+12T= (n.2070+12T=)
c.2478+12T= (n.2478+12T=)
c.2372+1464T= (n.2372+1464T=)
n.3514+12T=
c.2475+12T= (n.2475+12T=)
c.2520+12T= (n.2520+12T=)
n.2855+12T=
c.2517+12T= (n.2517+12T=)
c.2442+12T= (n.2442+12T=)
c.2439+12T= (n.2439+12T=)
c.2427+12T= (n.2427+12T=)
11g.22276212T>ACA2612838095ANO5n.537+13T>A
c.2070+13T>A (n.2070+13T>A)
c.2478+13T>A (n.2478+13T>A)
c.2372+1465T>A (n.2372+1465T>A)
n.3514+13T>A
c.2475+13T>A (n.2475+13T>A)
c.2520+13T>A (n.2520+13T>A)
n.2855+13T>A
c.2517+13T>A (n.2517+13T>A)
c.2442+13T>A (n.2442+13T>A)
c.2439+13T>A (n.2439+13T>A)
c.2427+13T>A (n.2427+13T>A)
 gnomAD v4
11g.22276213A>GCA2612838096ANO5n.537+14A>G
c.2070+14A>G (n.2070+14A>G)
c.2478+14A>G (n.2478+14A>G)
c.2372+1466A>G (n.2372+1466A>G)
n.3514+14A>G
c.2475+14A>G (n.2475+14A>G)
c.2520+14A>G (n.2520+14A>G)
n.2855+14A>G
c.2517+14A>G (n.2517+14A>G)
c.2442+14A>G (n.2442+14A>G)
c.2439+14A>G (n.2439+14A>G)
c.2427+14A>G (n.2427+14A>G)
 gnomAD v4
11g.22276214A>GCA2790713238ANO5n.537+15A>G
c.2070+15A>G (n.2070+15A>G)
c.2478+15A>G (n.2478+15A>G)
c.2372+1467A>G (n.2372+1467A>G)
n.3514+15A>G
c.2475+15A>G (n.2475+15A>G)
c.2520+15A>G (n.2520+15A>G)
n.2855+15A>G
c.2517+15A>G (n.2517+15A>G)
c.2442+15A>G (n.2442+15A>G)
c.2439+15A>G (n.2439+15A>G)
c.2427+15A>G (n.2427+15A>G)
11g.22276214_22276215delinsACCA1957408547ANO5n.537+15_537+16delinsAC
c.2070+15_2070+16delinsAC (n.2070+15_2070+16delinsAC)
c.2478+15_2478+16delinsAC (n.2478+15_2478+16delinsAC)
c.2372+1467_2372+1468delinsAC (n.2372+1467_2372+1468delinsAC)
n.3514+15_3514+16delinsAC
c.2475+15_2475+16delinsAC (n.2475+15_2475+16delinsAC)
c.2520+15_2520+16delinsAC (n.2520+15_2520+16delinsAC)
n.2855+15_2855+16delinsAC
c.2517+15_2517+16delinsAC (n.2517+15_2517+16delinsAC)
c.2442+15_2442+16delinsAC (n.2442+15_2442+16delinsAC)
c.2439+15_2439+16delinsAC (n.2439+15_2439+16delinsAC)
c.2427+15_2427+16delinsAC (n.2427+15_2427+16delinsAC)
11g.22276215delCA674658307ANO5n.537+16del
c.2070+16del (n.2070+16del)
c.2478+16del (n.2478+16del)
c.2372+1468del (n.2372+1468del)
n.3514+16del
c.2475+16del (n.2475+16del)
c.2520+16del (n.2520+16del)
n.2855+16del
c.2517+16del (n.2517+16del)
c.2442+16del (n.2442+16del)
c.2439+16del (n.2439+16del)
c.2427+16del (n.2427+16del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.22276215C>TCA2573146265ANO5n.537+16C>T
c.2070+16C>T (n.2070+16C>T)
c.2478+16C>T (n.2478+16C>T)
c.2372+1468C>T (n.2372+1468C>T)
n.3514+16C>T
c.2475+16C>T (n.2475+16C>T)
c.2520+16C>T (n.2520+16C>T)
n.2855+16C>T
c.2517+16C>T (n.2517+16C>T)
c.2442+16C>T (n.2442+16C>T)
c.2439+16C>T (n.2439+16C>T)
c.2427+16C>T (n.2427+16C>T)
 ClinVar dbSNP gnomAD v4
11g.22276216T>CCA597913870ANO5n.537+17T>C
c.2070+17T>C (n.2070+17T>C)
c.2478+17T>C (n.2478+17T>C)
c.2372+1469T>C (n.2372+1469T>C)
n.3514+17T>C
c.2475+17T>C (n.2475+17T>C)
c.2520+17T>C (n.2520+17T>C)
n.2855+17T>C
c.2517+17T>C (n.2517+17T>C)
c.2442+17T>C (n.2442+17T>C)
c.2439+17T>C (n.2439+17T>C)
c.2427+17T>C (n.2427+17T>C)
 dbSNP gnomAD v2 gnomAD v4
11g.22276216T=CA1957408569ANO5n.537+17T=
c.2070+17T= (n.2070+17T=)
c.2478+17T= (n.2478+17T=)
c.2372+1469T= (n.2372+1469T=)
n.3514+17T=
c.2475+17T= (n.2475+17T=)
c.2520+17T= (n.2520+17T=)
n.2855+17T=
c.2517+17T= (n.2517+17T=)
c.2442+17T= (n.2442+17T=)
c.2439+17T= (n.2439+17T=)
c.2427+17T= (n.2427+17T=)
11g.22276218T>ACA5923602ANO5n.537+19T>A
c.2070+19T>A (n.2070+19T>A)
c.2478+19T>A (n.2478+19T>A)
c.2372+1471T>A (n.2372+1471T>A)
n.3514+19T>A
c.2475+19T>A (n.2475+19T>A)
c.2520+19T>A (n.2520+19T>A)
n.2855+19T>A
c.2517+19T>A (n.2517+19T>A)
c.2442+19T>A (n.2442+19T>A)
c.2439+19T>A (n.2439+19T>A)
c.2427+19T>A (n.2427+19T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22276218T>CCA2612838098ANO5n.537+19T>C
c.2070+19T>C (n.2070+19T>C)
c.2478+19T>C (n.2478+19T>C)
c.2372+1471T>C (n.2372+1471T>C)
n.3514+19T>C
c.2475+19T>C (n.2475+19T>C)
c.2520+19T>C (n.2520+19T>C)
n.2855+19T>C
c.2517+19T>C (n.2517+19T>C)
c.2442+19T>C (n.2442+19T>C)
c.2439+19T>C (n.2439+19T>C)
c.2427+19T>C (n.2427+19T>C)
 gnomAD v4
11g.22276218T>GCA2612838097ANO5n.537+19T>G
c.2070+19T>G (n.2070+19T>G)
c.2478+19T>G (n.2478+19T>G)
c.2372+1471T>G (n.2372+1471T>G)
n.3514+19T>G
c.2475+19T>G (n.2475+19T>G)
c.2520+19T>G (n.2520+19T>G)
n.2855+19T>G
c.2517+19T>G (n.2517+19T>G)
c.2442+19T>G (n.2442+19T>G)
c.2439+19T>G (n.2439+19T>G)
c.2427+19T>G (n.2427+19T>G)
 gnomAD v4
11g.22276218T=CA1957408575ANO5n.537+19T=
c.2070+19T= (n.2070+19T=)
c.2478+19T= (n.2478+19T=)
c.2372+1471T= (n.2372+1471T=)
n.3514+19T=
c.2475+19T= (n.2475+19T=)
c.2520+19T= (n.2520+19T=)
n.2855+19T=
c.2517+19T= (n.2517+19T=)
c.2442+19T= (n.2442+19T=)
c.2439+19T= (n.2439+19T=)
c.2427+19T= (n.2427+19T=)
11g.22276219C>ACA2612838099ANO5n.537+20C>A
c.2070+20C>A (n.2070+20C>A)
c.2478+20C>A (n.2478+20C>A)
c.2372+1472C>A (n.2372+1472C>A)
n.3514+20C>A
c.2475+20C>A (n.2475+20C>A)
c.2520+20C>A (n.2520+20C>A)
n.2855+20C>A
c.2517+20C>A (n.2517+20C>A)
c.2442+20C>A (n.2442+20C>A)
c.2439+20C>A (n.2439+20C>A)
c.2427+20C>A (n.2427+20C>A)
 gnomAD v4
11g.22276219C>GCA2612838101ANO5n.537+20C>G
c.2070+20C>G (n.2070+20C>G)
c.2478+20C>G (n.2478+20C>G)
c.2372+1472C>G (n.2372+1472C>G)
n.3514+20C>G
c.2475+20C>G (n.2475+20C>G)
c.2520+20C>G (n.2520+20C>G)
n.2855+20C>G
c.2517+20C>G (n.2517+20C>G)
c.2442+20C>G (n.2442+20C>G)
c.2439+20C>G (n.2439+20C>G)
c.2427+20C>G (n.2427+20C>G)
 gnomAD v4
11g.22276219C>TCA2612838100ANO5n.537+20C>T
c.2070+20C>T (n.2070+20C>T)
c.2478+20C>T (n.2478+20C>T)
c.2372+1472C>T (n.2372+1472C>T)
n.3514+20C>T
c.2475+20C>T (n.2475+20C>T)
c.2520+20C>T (n.2520+20C>T)
n.2855+20C>T
c.2517+20C>T (n.2517+20C>T)
c.2442+20C>T (n.2442+20C>T)
c.2439+20C>T (n.2439+20C>T)
c.2427+20C>T (n.2427+20C>T)
 gnomAD v4
11g.22276220A=CA1957408579ANO5n.537+21A=
c.2070+21A= (n.2070+21A=)
c.2478+21A= (n.2478+21A=)
c.2372+1473A= (n.2372+1473A=)
n.3514+21A=
c.2475+21A= (n.2475+21A=)
c.2520+21A= (n.2520+21A=)
n.2855+21A=
c.2517+21A= (n.2517+21A=)
c.2442+21A= (n.2442+21A=)
c.2439+21A= (n.2439+21A=)
c.2427+21A= (n.2427+21A=)
11g.22276220A>CCA2612838102ANO5n.537+21A>C
c.2070+21A>C (n.2070+21A>C)
c.2478+21A>C (n.2478+21A>C)
c.2372+1473A>C (n.2372+1473A>C)
n.3514+21A>C
c.2475+21A>C (n.2475+21A>C)
c.2520+21A>C (n.2520+21A>C)
n.2855+21A>C
c.2517+21A>C (n.2517+21A>C)
c.2442+21A>C (n.2442+21A>C)
c.2439+21A>C (n.2439+21A>C)
c.2427+21A>C (n.2427+21A>C)
 gnomAD v4
11g.22276220A>GCA1957408582ANO5n.537+21A>G
c.2070+21A>G (n.2070+21A>G)
c.2478+21A>G (n.2478+21A>G)
c.2372+1473A>G (n.2372+1473A>G)
n.3514+21A>G
c.2475+21A>G (n.2475+21A>G)
c.2520+21A>G (n.2520+21A>G)
n.2855+21A>G
c.2517+21A>G (n.2517+21A>G)
c.2442+21A>G (n.2442+21A>G)
c.2439+21A>G (n.2439+21A>G)
c.2427+21A>G (n.2427+21A>G)
 dbSNP gnomAD v4
11g.22276223C>ACA2612838103ANO5n.537+24C>A
c.2070+24C>A (n.2070+24C>A)
c.2478+24C>A (n.2478+24C>A)
c.2372+1476C>A (n.2372+1476C>A)
n.3514+24C>A
c.2475+24C>A (n.2475+24C>A)
c.2520+24C>A (n.2520+24C>A)
n.2855+24C>A
c.2517+24C>A (n.2517+24C>A)
c.2442+24C>A (n.2442+24C>A)
c.2439+24C>A (n.2439+24C>A)
c.2427+24C>A (n.2427+24C>A)
 gnomAD v4
11g.22276223C>GCA2612838104ANO5n.537+24C>G
c.2070+24C>G (n.2070+24C>G)
c.2478+24C>G (n.2478+24C>G)
c.2372+1476C>G (n.2372+1476C>G)
n.3514+24C>G
c.2475+24C>G (n.2475+24C>G)
c.2520+24C>G (n.2520+24C>G)
n.2855+24C>G
c.2517+24C>G (n.2517+24C>G)
c.2442+24C>G (n.2442+24C>G)
c.2439+24C>G (n.2439+24C>G)
c.2427+24C>G (n.2427+24C>G)
 gnomAD v4
11g.22276223C>TCA2574781699ANO5n.537+24C>T
c.2070+24C>T (n.2070+24C>T)
c.2478+24C>T (n.2478+24C>T)
c.2372+1476C>T (n.2372+1476C>T)
n.3514+24C>T
c.2475+24C>T (n.2475+24C>T)
c.2520+24C>T (n.2520+24C>T)
n.2855+24C>T
c.2517+24C>T (n.2517+24C>T)
c.2442+24C>T (n.2442+24C>T)
c.2439+24C>T (n.2439+24C>T)
c.2427+24C>T (n.2427+24C>T)
 gnomAD v4
11g.22276224G>ACA5923603ANO5n.537+25G>A
c.2070+25G>A (n.2070+25G>A)
c.2478+25G>A (n.2478+25G>A)
c.2372+1477G>A (n.2372+1477G>A)
n.3514+25G>A
c.2475+25G>A (n.2475+25G>A)
c.2520+25G>A (n.2520+25G>A)
n.2855+25G>A
c.2517+25G>A (n.2517+25G>A)
c.2442+25G>A (n.2442+25G>A)
c.2439+25G>A (n.2439+25G>A)
c.2427+25G>A (n.2427+25G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22276224G>CCA232794ANO5n.537+25G>C
c.2070+25G>C (n.2070+25G>C)
c.2478+25G>C (n.2478+25G>C)
c.2372+1477G>C (n.2372+1477G>C)
n.3514+25G>C
c.2475+25G>C (n.2475+25G>C)
c.2520+25G>C (n.2520+25G>C)
n.2855+25G>C
c.2517+25G>C (n.2517+25G>C)
c.2442+25G>C (n.2442+25G>C)
c.2439+25G>C (n.2439+25G>C)
c.2427+25G>C (n.2427+25G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22276224G=CA1957408593ANO5n.537+25G=
c.2070+25G= (n.2070+25G=)
c.2478+25G= (n.2478+25G=)
c.2372+1477G= (n.2372+1477G=)
n.3514+25G=
c.2475+25G= (n.2475+25G=)
c.2520+25G= (n.2520+25G=)
n.2855+25G=
c.2517+25G= (n.2517+25G=)
c.2442+25G= (n.2442+25G=)
c.2439+25G= (n.2439+25G=)
c.2427+25G= (n.2427+25G=)
11g.22276224G>TCA1957408588ANO5n.537+25G>T
c.2070+25G>T (n.2070+25G>T)
c.2478+25G>T (n.2478+25G>T)
c.2372+1477G>T (n.2372+1477G>T)
n.3514+25G>T
c.2475+25G>T (n.2475+25G>T)
c.2520+25G>T (n.2520+25G>T)
n.2855+25G>T
c.2517+25G>T (n.2517+25G>T)
c.2442+25G>T (n.2442+25G>T)
c.2439+25G>T (n.2439+25G>T)
c.2427+25G>T (n.2427+25G>T)
 dbSNP
11g.22276226G>ACA2612838105ANO5n.537+27G>A
c.2070+27G>A (n.2070+27G>A)
c.2478+27G>A (n.2478+27G>A)
c.2372+1479G>A (n.2372+1479G>A)
n.3514+27G>A
c.2475+27G>A (n.2475+27G>A)
c.2520+27G>A (n.2520+27G>A)
n.2855+27G>A
c.2517+27G>A (n.2517+27G>A)
c.2442+27G>A (n.2442+27G>A)
c.2439+27G>A (n.2439+27G>A)
c.2427+27G>A (n.2427+27G>A)
 gnomAD v4
11g.22276227T>CCA2790713239ANO5n.537+28T>C
c.2070+28T>C (n.2070+28T>C)
c.2478+28T>C (n.2478+28T>C)
c.2372+1480T>C (n.2372+1480T>C)
n.3514+28T>C
c.2475+28T>C (n.2475+28T>C)
c.2520+28T>C (n.2520+28T>C)
n.2855+28T>C
c.2517+28T>C (n.2517+28T>C)
c.2442+28T>C (n.2442+28T>C)
c.2439+28T>C (n.2439+28T>C)
c.2427+28T>C (n.2427+28T>C)
11g.22276228T=CA1957408600ANO5n.537+29T=
c.2070+29T= (n.2070+29T=)
c.2478+29T= (n.2478+29T=)
c.2372+1481T= (n.2372+1481T=)
n.3514+29T=
c.2475+29T= (n.2475+29T=)
c.2520+29T= (n.2520+29T=)
n.2855+29T=
c.2517+29T= (n.2517+29T=)
c.2442+29T= (n.2442+29T=)
c.2439+29T= (n.2439+29T=)
c.2427+29T= (n.2427+29T=)
11g.22276229A>GCA2790713240ANO5n.537+30A>G
c.2070+30A>G (n.2070+30A>G)
c.2478+30A>G (n.2478+30A>G)
c.2372+1482A>G (n.2372+1482A>G)
n.3514+30A>G
c.2475+30A>G (n.2475+30A>G)
c.2520+30A>G (n.2520+30A>G)
n.2855+30A>G
c.2517+30A>G (n.2517+30A>G)
c.2442+30A>G (n.2442+30A>G)
c.2439+30A>G (n.2439+30A>G)
c.2427+30A>G (n.2427+30A>G)
11g.22276229dupCA597913871ANO5n.537+30dup
c.2070+30dup (n.2070+30dup)
c.2478+30dup (n.2478+30dup)
c.2372+1482dup (n.2372+1482dup)
n.3514+30dup
c.2475+30dup (n.2475+30dup)
c.2520+30dup (n.2520+30dup)
n.2855+30dup
c.2517+30dup (n.2517+30dup)
c.2442+30dup (n.2442+30dup)
c.2439+30dup (n.2439+30dup)
c.2427+30dup (n.2427+30dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.22276229_22276231delinsACTCA1957408602ANO5n.537+30_537+32delinsACT
c.2070+30_2070+32delinsACT (n.2070+30_2070+32delinsACT)
c.2478+30_2478+32delinsACT (n.2478+30_2478+32delinsACT)
c.2372+1482_2372+1484delinsACT (n.2372+1482_2372+1484delinsACT)
n.3514+30_3514+32delinsACT
c.2475+30_2475+32delinsACT (n.2475+30_2475+32delinsACT)
c.2520+30_2520+32delinsACT (n.2520+30_2520+32delinsACT)
n.2855+30_2855+32delinsACT
c.2517+30_2517+32delinsACT (n.2517+30_2517+32delinsACT)
c.2442+30_2442+32delinsACT (n.2442+30_2442+32delinsACT)
c.2439+30_2439+32delinsACT (n.2439+30_2439+32delinsACT)
c.2427+30_2427+32delinsACT (n.2427+30_2427+32delinsACT)
11g.22276230C>ACA2612838106ANO5n.537+31C>A
c.2070+31C>A (n.2070+31C>A)
c.2478+31C>A (n.2478+31C>A)
c.2372+1483C>A (n.2372+1483C>A)
n.3514+31C>A
c.2475+31C>A (n.2475+31C>A)
c.2520+31C>A (n.2520+31C>A)
n.2855+31C>A
c.2517+31C>A (n.2517+31C>A)
c.2442+31C>A (n.2442+31C>A)
c.2439+31C>A (n.2439+31C>A)
c.2427+31C>A (n.2427+31C>A)
 gnomAD v4
11g.22276230C=CA1957408606ANO5n.537+31C=
c.2070+31C= (n.2070+31C=)
c.2478+31C= (n.2478+31C=)
c.2372+1483C= (n.2372+1483C=)
n.3514+31C=
c.2475+31C= (n.2475+31C=)
c.2520+31C= (n.2520+31C=)
n.2855+31C=
c.2517+31C= (n.2517+31C=)
c.2442+31C= (n.2442+31C=)
c.2439+31C= (n.2439+31C=)
c.2427+31C= (n.2427+31C=)
11g.22276230C>TCA597913872ANO5n.537+31C>T
c.2070+31C>T (n.2070+31C>T)
c.2478+31C>T (n.2478+31C>T)
c.2372+1483C>T (n.2372+1483C>T)
n.3514+31C>T
c.2475+31C>T (n.2475+31C>T)
c.2520+31C>T (n.2520+31C>T)
n.2855+31C>T
c.2517+31C>T (n.2517+31C>T)
c.2442+31C>T (n.2442+31C>T)
c.2439+31C>T (n.2439+31C>T)
c.2427+31C>T (n.2427+31C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.22276234_22276235delCA674658337ANO5n.537+35_537+36del
c.2070+35_2070+36del (n.2070+35_2070+36del)
c.2478+35_2478+36del (n.2478+35_2478+36del)
c.2372+1487_2372+1488del (n.2372+1487_2372+1488del)
n.3514+35_3514+36del
c.2475+35_2475+36del (n.2475+35_2475+36del)
c.2520+35_2520+36del (n.2520+35_2520+36del)
n.2855+35_2855+36del
c.2517+35_2517+36del (n.2517+35_2517+36del)
c.2442+35_2442+36del (n.2442+35_2442+36del)
c.2439+35_2439+36del (n.2439+35_2439+36del)
c.2427+35_2427+36del (n.2427+35_2427+36del)
 dbSNP

Number of alleles fetched