Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.41160610A>GCA2656909488EP300c.*1511-32A>G (n.*1511-32A>G)
c.3591-32A>G (n.3591-32A>G)
c.3513-32A>G (n.3513-32A>G)
 gnomAD v4
22g.41160610A>TCA2656909489EP300c.*1511-32A>T (n.*1511-32A>T)
c.3591-32A>T (n.3591-32A>T)
c.3513-32A>T (n.3513-32A>T)
 gnomAD v4
22g.41160611G>ACA2737986469EP300c.*1511-31G>A (n.*1511-31G>A)
c.3591-31G>A (n.3591-31G>A)
c.3513-31G>A (n.3513-31G>A)
 dbSNP
22g.41160611G>CCA2737986468EP300c.*1511-31G>C (n.*1511-31G>C)
c.3591-31G>C (n.3591-31G>C)
c.3513-31G>C (n.3513-31G>C)
 dbSNP
22g.41160612T>ACA2737986471EP300c.*1511-30T>A (n.*1511-30T>A)
c.3591-30T>A (n.3591-30T>A)
c.3513-30T>A (n.3513-30T>A)
 dbSNP
22g.41160614C>ACA2656909490EP300c.*1511-28C>A (n.*1511-28C>A)
c.3591-28C>A (n.3591-28C>A)
c.3513-28C>A (n.3513-28C>A)
 gnomAD v4
22g.41160614C>GCA2656909491EP300c.*1511-28C>G (n.*1511-28C>G)
c.3591-28C>G (n.3591-28C>G)
c.3513-28C>G (n.3513-28C>G)
 dbSNP gnomAD v4
22g.41160614C>TCA2656909492EP300c.*1511-28C>T (n.*1511-28C>T)
c.3591-28C>T (n.3591-28C>T)
c.3513-28C>T (n.3513-28C>T)
 dbSNP gnomAD v4
22g.41160615A>CCA2737986476EP300c.*1511-27A>C (n.*1511-27A>C)
c.3591-27A>C (n.3591-27A>C)
c.3513-27A>C (n.3513-27A>C)
 dbSNP
22g.41160615A>TCA2737986477EP300c.*1511-27A>T (n.*1511-27A>T)
c.3591-27A>T (n.3591-27A>T)
c.3513-27A>T (n.3513-27A>T)
 dbSNP
22g.41160616C>ACA2656909493EP300c.*1511-26C>A (n.*1511-26C>A)
c.3591-26C>A (n.3591-26C>A)
c.3513-26C>A (n.3513-26C>A)
 dbSNP gnomAD v4
22g.41160616C=CA2406108602EP300c.*1511-26C= (n.*1511-26C=)
c.3591-26C= (n.3591-26C=)
c.3513-26C= (n.3513-26C=)
22g.41160616C>GCA10253162EP300c.*1511-26C>G (n.*1511-26C>G)
c.3591-26C>G (n.3591-26C>G)
c.3513-26C>G (n.3513-26C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.41160616C>TCA2737857922EP300c.*1511-26C>T (n.*1511-26C>T)
c.3591-26C>T (n.3591-26C>T)
c.3513-26C>T (n.3513-26C>T)
 dbSNP
22g.41160617C>ACA2737986479EP300c.*1511-25C>A (n.*1511-25C>A)
c.3591-25C>A (n.3591-25C>A)
c.3513-25C>A (n.3513-25C>A)
 dbSNP
22g.41160617C>TCA2737986478EP300c.*1511-25C>T (n.*1511-25C>T)
c.3591-25C>T (n.3591-25C>T)
c.3513-25C>T (n.3513-25C>T)
 dbSNP
22g.41160618C>ACA2656909494EP300c.*1511-24C>A (n.*1511-24C>A)
c.3591-24C>A (n.3591-24C>A)
c.3513-24C>A (n.3513-24C>A)
 gnomAD v4
22g.41160618C>TCA2656909495EP300c.*1511-24C>T (n.*1511-24C>T)
c.3591-24C>T (n.3591-24C>T)
c.3513-24C>T (n.3513-24C>T)
 gnomAD v4
22g.41160619C>ACA2571213512EP300c.*1511-23C>A (n.*1511-23C>A)
c.3591-23C>A (n.3591-23C>A)
c.3513-23C>A (n.3513-23C>A)
 dbSNP
22g.41160619C>GCA2577729076EP300c.*1511-23C>G (n.*1511-23C>G)
c.3591-23C>G (n.3591-23C>G)
c.3513-23C>G (n.3513-23C>G)
 dbSNP
22g.41160619C>TCA2737986482EP300c.*1511-23C>T (n.*1511-23C>T)
c.3591-23C>T (n.3591-23C>T)
c.3513-23C>T (n.3513-23C>T)
 dbSNP
22g.41160620A>TCA2737986483EP300c.*1511-22A>T (n.*1511-22A>T)
c.3591-22A>T (n.3591-22A>T)
c.3513-22A>T (n.3513-22A>T)
 dbSNP
22g.41160621G>ACA324545432EP300c.*1511-21G>A (n.*1511-21G>A)
c.3591-21G>A (n.3591-21G>A)
c.3513-21G>A (n.3513-21G>A)
 dbSNP gnomAD v3 gnomAD v4
22g.41160621G>CCA2406108604EP300c.*1511-21G>C (n.*1511-21G>C)
c.3591-21G>C (n.3591-21G>C)
c.3513-21G>C (n.3513-21G>C)
 dbSNP gnomAD v4
22g.41160621G=CA2406108603EP300c.*1511-21G= (n.*1511-21G=)
c.3591-21G= (n.3591-21G=)
c.3513-21G= (n.3513-21G=)
22g.41160622T>CCA2656909497EP300c.*1511-20T>C (n.*1511-20T>C)
c.3591-20T>C (n.3591-20T>C)
c.3513-20T>C (n.3513-20T>C)
 gnomAD v4
22g.41160622T>GCA2656909496EP300c.*1511-20T>G (n.*1511-20T>G)
c.3591-20T>G (n.3591-20T>G)
c.3513-20T>G (n.3513-20T>G)
 dbSNP gnomAD v4
22g.41160623A=CA2406108605EP300c.*1511-19A= (n.*1511-19A=)
c.3591-19A= (n.3591-19A=)
c.3513-19A= (n.3513-19A=)
22g.41160623A>CCA2737854263EP300c.*1511-19A>C (n.*1511-19A>C)
c.3591-19A>C (n.3591-19A>C)
c.3513-19A>C (n.3513-19A>C)
 dbSNP
22g.41160623A>GCA10253163EP300c.*1511-19A>G (n.*1511-19A>G)
c.3591-19A>G (n.3591-19A>G)
c.3513-19A>G (n.3513-19A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.41160623A>TCA2737854262EP300c.*1511-19A>T (n.*1511-19A>T)
c.3591-19A>T (n.3591-19A>T)
c.3513-19A>T (n.3513-19A>T)
 dbSNP
22g.41160624T>CCA2406108606EP300c.*1511-18T>C (n.*1511-18T>C)
c.3591-18T>C (n.3591-18T>C)
c.3513-18T>C (n.3513-18T>C)
 dbSNP
22g.41160624T>GCA639444248EP300c.*1511-18T>G (n.*1511-18T>G)
c.3591-18T>G (n.3591-18T>G)
c.3513-18T>G (n.3513-18T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.41160624T=CA2406108607EP300c.*1511-18T= (n.*1511-18T=)
c.3591-18T= (n.3591-18T=)
c.3513-18T= (n.3513-18T=)
22g.41160625G>ACA2737986484EP300c.*1511-17G>A (n.*1511-17G>A)
c.3591-17G>A (n.3591-17G>A)
c.3513-17G>A (n.3513-17G>A)
 dbSNP
22g.41160625G>CCA2737986485EP300c.*1511-17G>C (n.*1511-17G>C)
c.3591-17G>C (n.3591-17G>C)
c.3513-17G>C (n.3513-17G>C)
 dbSNP
22g.41160626G>ACA2737986486EP300c.*1511-16G>A (n.*1511-16G>A)
c.3591-16G>A (n.3591-16G>A)
c.3513-16G>A (n.3513-16G>A)
 dbSNP
22g.41160626G>CCA2737986487EP300c.*1511-16G>C (n.*1511-16G>C)
c.3591-16G>C (n.3591-16G>C)
c.3513-16G>C (n.3513-16G>C)
 dbSNP
22g.41160626G>TCA2737986488EP300c.*1511-16G>T (n.*1511-16G>T)
c.3591-16G>T (n.3591-16G>T)
c.3513-16G>T (n.3513-16G>T)
 dbSNP
22g.41160627C>ACA2737986493EP300c.*1511-15C>A (n.*1511-15C>A)
c.3591-15C>A (n.3591-15C>A)
c.3513-15C>A (n.3513-15C>A)
 dbSNP
22g.41160627C>GCA2737986490EP300c.*1511-15C>G (n.*1511-15C>G)
c.3591-15C>G (n.3591-15C>G)
c.3513-15C>G (n.3513-15C>G)
 dbSNP
22g.41160627C>TCA2737986492EP300c.*1511-15C>T (n.*1511-15C>T)
c.3591-15C>T (n.3591-15C>T)
c.3513-15C>T (n.3513-15C>T)
 dbSNP
22g.41160628C>ACA2737986495EP300c.*1511-14C>A (n.*1511-14C>A)
c.3591-14C>A (n.3591-14C>A)
c.3513-14C>A (n.3513-14C>A)
 dbSNP
22g.41160628C>GCA2737986496EP300c.*1511-14C>G (n.*1511-14C>G)
c.3591-14C>G (n.3591-14C>G)
c.3513-14C>G (n.3513-14C>G)
 dbSNP
22g.41160628C>TCA2737986498EP300c.*1511-14C>T (n.*1511-14C>T)
c.3591-14C>T (n.3591-14C>T)
c.3513-14C>T (n.3513-14C>T)
 dbSNP
22g.41160629T>ACA2737986499EP300c.*1511-13T>A (n.*1511-13T>A)
c.3591-13T>A (n.3591-13T>A)
c.3513-13T>A (n.3513-13T>A)
 dbSNP
22g.41160629T>GCA2577729078EP300c.*1511-13T>G (n.*1511-13T>G)
c.3591-13T>G (n.3591-13T>G)
c.3513-13T>G (n.3513-13T>G)
22g.41160630T>CCA2577729079EP300c.*1511-12T>C (n.*1511-12T>C)
c.3591-12T>C (n.3591-12T>C)
c.3513-12T>C (n.3513-12T>C)
 dbSNP
22g.41160631C=CA2406108608EP300c.*1511-11C= (n.*1511-11C=)
c.3591-11C= (n.3591-11C=)
c.3513-11C= (n.3513-11C=)
22g.41160631C>GCA753224531EP300c.*1511-11C>G (n.*1511-11C>G)
c.3591-11C>G (n.3591-11C>G)
c.3513-11C>G (n.3513-11C>G)
 dbSNP
22g.41160631C>TCA2737877493EP300c.*1511-11C>T (n.*1511-11C>T)
c.3591-11C>T (n.3591-11C>T)
c.3513-11C>T (n.3513-11C>T)
 dbSNP
22g.41160633T>CCA1025844753EP300c.*1511-9T>C (n.*1511-9T>C)
c.3591-9T>C (n.3591-9T>C)
c.3513-9T>C (n.3513-9T>C)
 dbSNP gnomAD v4
22g.41160633T=CA2406108609EP300c.*1511-9T= (n.*1511-9T=)
c.3591-9T= (n.3591-9T=)
c.3513-9T= (n.3513-9T=)
22g.41160634G>ACA2656909498EP300c.*1511-8G>A (n.*1511-8G>A)
c.3591-8G>A (n.3591-8G>A)
c.3513-8G>A (n.3513-8G>A)
 dbSNP gnomAD v4
22g.41160634G>CCA2737986505EP300c.*1511-8G>C (n.*1511-8G>C)
c.3591-8G>C (n.3591-8G>C)
c.3513-8G>C (n.3513-8G>C)
 dbSNP
22g.41160634G>TCA2737986506EP300c.*1511-8G>T (n.*1511-8G>T)
c.3591-8G>T (n.3591-8G>T)
c.3513-8G>T (n.3513-8G>T)
 dbSNP
22g.41160635C>GCA2737986507EP300c.*1511-7C>G (n.*1511-7C>G)
c.3591-7C>G (n.3591-7C>G)
c.3513-7C>G (n.3513-7C>G)
 dbSNP
22g.41160635C>TCA645616450EP300c.*1511-7C>T (n.*1511-7C>T)
c.3591-7C>T (n.3591-7C>T)
c.3513-7C>T (n.3513-7C>T)
 dbSNP gnomAD v4 COSMIC
22g.41160636C>ACA2737853563EP300c.*1511-6C>A (n.*1511-6C>A)
c.3591-6C>A (n.3591-6C>A)
c.3513-6C>A (n.3513-6C>A)
 dbSNP
22g.41160636C=CA2406108610EP300c.*1511-6C= (n.*1511-6C=)
c.3591-6C= (n.3591-6C=)
c.3513-6C= (n.3513-6C=)
22g.41160636C>GCA2737853565EP300c.*1511-6C>G (n.*1511-6C>G)
c.3591-6C>G (n.3591-6C>G)
c.3513-6C>G (n.3513-6C>G)
 dbSNP
22g.41160636C>TCA241917EP300c.*1511-6C>T (n.*1511-6C>T)
c.3591-6C>T (n.3591-6C>T)
c.3513-6C>T (n.3513-6C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.41160637G>ACA10253164EP300c.*1511-5G>A (n.*1511-5G>A)
c.3591-5G>A (n.3591-5G>A)
c.3513-5G>A (n.3513-5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.41160637G>CCA2656909499EP300c.*1511-5G>C (n.*1511-5G>C)
c.3591-5G>C (n.3591-5G>C)
c.3513-5G>C (n.3513-5G>C)
 dbSNP gnomAD v4
22g.41160637G=CA2406108611EP300c.*1511-5G= (n.*1511-5G=)
c.3591-5G= (n.3591-5G=)
c.3513-5G= (n.3513-5G=)
22g.41160637G>TCA2406108612EP300c.*1511-5G>T (n.*1511-5G>T)
c.3591-5G>T (n.3591-5G>T)
c.3513-5G>T (n.3513-5G>T)
 dbSNP gnomAD v4
22g.41160638A>CCA2737986510EP300c.*1511-4A>C (n.*1511-4A>C)
c.3591-4A>C (n.3591-4A>C)
c.3513-4A>C (n.3513-4A>C)
 dbSNP
22g.41160638A>GCA2656909500EP300c.*1511-4A>G (n.*1511-4A>G)
c.3591-4A>G (n.3591-4A>G)
c.3513-4A>G (n.3513-4A>G)
 gnomAD v4
22g.41160638A>TCA2737986511EP300c.*1511-4A>T (n.*1511-4A>T)
c.3591-4A>T (n.3591-4A>T)
c.3513-4A>T (n.3513-4A>T)
 dbSNP
22g.41160639C=CA2406108613EP300c.*1511-3C= (n.*1511-3C=)
c.3591-3C= (n.3591-3C=)
c.3513-3C= (n.3513-3C=)
22g.41160639C>GCA2737882740EP300c.*1511-3C>G (n.*1511-3C>G)
c.3591-3C>G (n.3591-3C>G)
c.3513-3C>G (n.3513-3C>G)
 dbSNP
22g.41160639C>TCA639444252EP300c.*1511-3C>T (n.*1511-3C>T)
c.3591-3C>T (n.3591-3C>T)
c.3513-3C>T (n.3513-3C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.41160640A>CCA411696157EP300c.*1511-2A>C (n.*1511-2A>C)
c.3591-2A>C (n.3591-2A>C)
c.3513-2A>C (n.3513-2A>C)
22g.41160640A>GCA411696159EP300c.*1511-2A>G (n.*1511-2A>G)
c.3591-2A>G (n.3591-2A>G)
c.3513-2A>G (n.3513-2A>G)
22g.41160640A>TCA411696162EP300c.*1511-2A>T (n.*1511-2A>T)
c.3591-2A>T (n.3591-2A>T)
c.3513-2A>T (n.3513-2A>T)
22g.41160641G>ACA411696164EP300c.*1511-1G>A (n.*1511-1G>A)
c.3591-1G>A (n.3591-1G>A)
c.3513-1G>A (n.3513-1G>A)
 dbSNP
22g.41160641G>CCA411696166EP300c.*1511-1G>C (n.*1511-1G>C)
c.3591-1G>C (n.3591-1G>C)
c.3513-1G>C (n.3513-1G>C)
 dbSNP
22g.41160641G>TCA411696167EP300c.*1511-1G>T (n.*1511-1G>T)
c.3591-1G>T (n.3591-1G>T)
c.3513-1G>T (n.3513-1G>T)
 dbSNP COSMIC
22g.41160642G>ACA514646339EP300c.*1511G>A (n.*1511G>A)
c.3591G>A (p.Arg1197=)
c.3513G>A (p.Arg1171=)
 dbSNP gnomAD v2 gnomAD v4
22g.41160642G>CCA411696170EP300c.*1511G>C (n.*1511G>C)
c.3591G>C (p.Arg1197Ser)
c.3513G>C (p.Arg1171Ser)
 dbSNP
22g.41160642G=CA2406108614EP300c.*1511G= (n.*1511G=)
c.3591G= (p.Arg1197=)
c.3513G= (p.Arg1171=)
22g.41160642G>TCA411696172EP300c.*1511G>T (n.*1511G>T)
c.3591G>T (p.Arg1197Ser)
c.3513G>T (p.Arg1171Ser)
 dbSNP
22g.41160645_41162782delCA645616451EP300c.*1514_*1648+3del
c.3594_3728+3del
c.3516_3650+3del
 COSMIC
22g.41160643T>ACA411696174EP300c.*1512T>A (n.*1512T>A)
c.3592T>A (p.Tyr1198Asn)
c.3514T>A (p.Tyr1172Asn)
 dbSNP
22g.41160643T>CCA411696176EP300c.*1512T>C (n.*1512T>C)
c.3592T>C (p.Tyr1198His)
c.3514T>C (p.Tyr1172His)
 ClinVar dbSNP gnomAD v4
22g.41160643T>GCA411696179EP300c.*1512T>G (n.*1512T>G)
c.3592T>G (p.Tyr1198Asp)
c.3514T>G (p.Tyr1172Asp)
 dbSNP
22g.41160643T=CA2406108615EP300c.*1512T= (n.*1512T=)
c.3592T= (p.Tyr1198=)
c.3514T= (p.Tyr1172=)
22g.41160644A>CCA411696183EP300c.*1513A>C (n.*1513A>C)
c.3593A>C (p.Tyr1198Ser)
c.3515A>C (p.Tyr1172Ser)
22g.41160644A>GCA411696186EP300c.*1513A>G (n.*1513A>G)
c.3593A>G (p.Tyr1198Cys)
c.3515A>G (p.Tyr1172Cys)
 dbSNP gnomAD v4
22g.41160644A>TCA411696182EP300c.*1513A>T (n.*1513A>T)
c.3593A>T (p.Tyr1198Phe)
c.3515A>T (p.Tyr1172Phe)
 dbSNP
22g.41160645T>ACA411696188EP300c.*1514T>A (n.*1514T>A)
c.3594T>A (p.Tyr1198Ter)
c.3516T>A (p.Tyr1172Ter)
22g.41160645T>CCA514646343EP300c.*1514T>C (n.*1514T>C)
c.3594T>C (p.Tyr1198=)
c.3516T>C (p.Tyr1172=)
 gnomAD v4
22g.41160645T>GCA411696191EP300c.*1514T>G (n.*1514T>G)
c.3594T>G (p.Tyr1198Ter)
c.3516T>G (p.Tyr1172Ter)
22g.41160646C>ACA411696193EP300c.*1515C>A (n.*1515C>A)
c.3595C>A (p.His1199Asn)
c.3517C>A (p.His1173Asn)
 dbSNP
22g.41160646C>GCA411696196EP300c.*1515C>G (n.*1515C>G)
c.3595C>G (p.His1199Asp)
c.3517C>G (p.His1173Asp)
 dbSNP
22g.41160646C>TCA411696198EP300c.*1515C>T (n.*1515C>T)
c.3595C>T (p.His1199Tyr)
c.3517C>T (p.His1173Tyr)
 dbSNP COSMIC
22g.41160647A>CCA411696208EP300c.*1516A>C (n.*1516A>C)
c.3596A>C (p.His1199Pro)
c.3518A>C (p.His1173Pro)
22g.41160647A>GCA411696204EP300c.*1516A>G (n.*1516A>G)
c.3596A>G (p.His1199Arg)
c.3518A>G (p.His1173Arg)
 gnomAD v4
22g.41160647A>TCA411696206EP300c.*1516A>T (n.*1516A>T)
c.3596A>T (p.His1199Leu)
c.3518A>T (p.His1173Leu)
 dbSNP
22g.41160648T>ACA411696210EP300c.*1517T>A (n.*1517T>A)
c.3597T>A (p.His1199Gln)
c.3519T>A (p.His1173Gln)
 dbSNP
22g.41160648T>CCA514646347EP300c.*1517T>C (n.*1517T>C)
c.3597T>C (p.His1199=)
c.3519T>C (p.His1173=)
22g.41160648T>GCA411696212EP300c.*1517T>G (n.*1517T>G)
c.3597T>G (p.His1199Gln)
c.3519T>G (p.His1173Gln)
22g.41160649T>ACA411696215EP300c.*1518T>A (n.*1518T>A)
c.3598T>A (p.Phe1200Ile)
c.3520T>A (p.Phe1174Ile)
22g.41160649T>CCA411696218EP300c.*1518T>C (n.*1518T>C)
c.3598T>C (p.Phe1200Leu)
c.3520T>C (p.Phe1174Leu)
22g.41160649T>GCA411696219EP300c.*1518T>G (n.*1518T>G)
c.3598T>G (p.Phe1200Val)
c.3520T>G (p.Phe1174Val)
 dbSNP
22g.41160649T=CA2406108616EP300c.*1518T= (n.*1518T=)
c.3598T= (p.Phe1200=)
c.3520T= (p.Phe1174=)
22g.41160650T>ACA411696227EP300c.*1519T>A (n.*1519T>A)
c.3599T>A (p.Phe1200Tyr)
c.3521T>A (p.Phe1174Tyr)
22g.41160650T>CCA411696222EP300c.*1519T>C (n.*1519T>C)
c.3599T>C (p.Phe1200Ser)
c.3521T>C (p.Phe1174Ser)
22g.41160650T>GCA411696224EP300c.*1519T>G (n.*1519T>G)
c.3599T>G (p.Phe1200Cys)
c.3521T>G (p.Phe1174Cys)
22g.41160651C>ACA411696228EP300c.*1520C>A (n.*1520C>A)
c.3600C>A (p.Phe1200Leu)
c.3522C>A (p.Phe1174Leu)
 COSMIC
22g.41160651C>GCA411696230EP300c.*1520C>G (n.*1520C>G)
c.3600C>G (p.Phe1200Leu)
c.3522C>G (p.Phe1174Leu)
 dbSNP
22g.41160651C>TCA514646349EP300c.*1520C>T (n.*1520C>T)
c.3600C>T (p.Phe1200=)
c.3522C>T (p.Phe1174=)
 dbSNP
22g.41160652T>ACA411696232EP300c.*1521T>A (n.*1521T>A)
c.3601T>A (p.Cys1201Ser)
c.3523T>A (p.Cys1175Ser)
22g.41160652T>CCA411696233EP300c.*1521T>C (n.*1521T>C)
c.3601T>C (p.Cys1201Arg)
c.3523T>C (p.Cys1175Arg)
 dbSNP COSMIC
22g.41160652T>GCA411696236EP300c.*1521T>G (n.*1521T>G)
c.3601T>G (p.Cys1201Gly)
c.3523T>G (p.Cys1175Gly)
22g.41160653G>ACA411696238EP300c.*1522G>A (n.*1522G>A)
c.3602G>A (p.Cys1201Tyr)
c.3524G>A (p.Cys1175Tyr)
 dbSNP gnomAD v4 COSMIC
22g.41160653G>CCA411696240EP300c.*1522G>C (n.*1522G>C)
c.3602G>C (p.Cys1201Ser)
c.3524G>C (p.Cys1175Ser)
 dbSNP
22g.41160653G>TCA411696243EP300c.*1522G>T (n.*1522G>T)
c.3602G>T (p.Cys1201Phe)
c.3524G>T (p.Cys1175Phe)
 dbSNP
22g.41160654T>ACA411696245EP300c.*1523T>A (n.*1523T>A)
c.3603T>A (p.Cys1201Ter)
c.3525T>A (p.Cys1175Ter)
 dbSNP
22g.41160654T>CCA514646350EP300c.*1523T>C (n.*1523T>C)
c.3603T>C (p.Cys1201=)
c.3525T>C (p.Cys1175=)
 COSMIC
22g.41160654T>GCA411696246EP300c.*1523T>G (n.*1523T>G)
c.3603T>G (p.Cys1201Trp)
c.3525T>G (p.Cys1175Trp)
22g.41160655G>ACA411696250EP300c.*1524G>A (n.*1524G>A)
c.3604G>A (p.Glu1202Lys)
c.3526G>A (p.Glu1176Lys)
22g.41160655G>CCA411696252EP300c.*1524G>C (n.*1524G>C)
c.3604G>C (p.Glu1202Gln)
c.3526G>C (p.Glu1176Gln)
 dbSNP COSMIC
22g.41160655G>TCA411696255EP300c.*1524G>T (n.*1524G>T)
c.3604G>T (p.Glu1202Ter)
c.3526G>T (p.Glu1176Ter)
22g.41160656A>CCA411696259EP300c.*1525A>C (n.*1525A>C)
c.3605A>C (p.Glu1202Ala)
c.3527A>C (p.Glu1176Ala)
22g.41160656A>GCA411696264EP300c.*1525A>G (n.*1525A>G)
c.3605A>G (p.Glu1202Gly)
c.3527A>G (p.Glu1176Gly)
 dbSNP
22g.41160656A>TCA411696262EP300c.*1525A>T (n.*1525A>T)
c.3605A>T (p.Glu1202Val)
c.3527A>T (p.Glu1176Val)
 dbSNP
22g.41160657G>ACA514646351EP300c.*1526G>A (n.*1526G>A)
c.3606G>A (p.Glu1202=)
c.3528G>A (p.Glu1176=)
 dbSNP
22g.41160657G>CCA411696267EP300c.*1526G>C (n.*1526G>C)
c.3606G>C (p.Glu1202Asp)
c.3528G>C (p.Glu1176Asp)
 dbSNP
22g.41160657G>TCA411696269EP300c.*1526G>T (n.*1526G>T)
c.3606G>T (p.Glu1202Asp)
c.3528G>T (p.Glu1176Asp)
22g.41160658A>CCA411696273EP300c.*1527A>C (n.*1527A>C)
c.3607A>C (p.Lys1203Gln)
c.3529A>C (p.Lys1177Gln)
22g.41160658A>GCA411696274EP300c.*1527A>G (n.*1527A>G)
c.3607A>G (p.Lys1203Glu)
c.3529A>G (p.Lys1177Glu)
 dbSNP
22g.41160658A>TCA411696277EP300c.*1527A>T (n.*1527A>T)
c.3607A>T (p.Lys1203Ter)
c.3529A>T (p.Lys1177Ter)
 dbSNP
22g.41160659A>CCA411696285EP300c.*1528A>C (n.*1528A>C)
c.3608A>C (p.Lys1203Thr)
c.3530A>C (p.Lys1177Thr)
22g.41160659A>GCA411696283EP300c.*1528A>G (n.*1528A>G)
c.3608A>G (p.Lys1203Arg)
c.3530A>G (p.Lys1177Arg)
22g.41160659A>TCA411696280EP300c.*1528A>T (n.*1528A>T)
c.3608A>T (p.Lys1203Met)
c.3530A>T (p.Lys1177Met)
 dbSNP
22g.41160660G>ACA10253165EP300c.*1529G>A (n.*1529G>A)
c.3609G>A (p.Lys1203=)
c.3531G>A (p.Lys1177=)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.41160660G>CCA411696289EP300c.*1529G>C (n.*1529G>C)
c.3609G>C (p.Lys1203Asn)
c.3531G>C (p.Lys1177Asn)
 dbSNP gnomAD v4
22g.41160660G=CA2406108617EP300c.*1529G= (n.*1529G=)
c.3609G= (p.Lys1203=)
c.3531G= (p.Lys1177=)
22g.41160660G>TCA411696292EP300c.*1529G>T (n.*1529G>T)
c.3609G>T (p.Lys1203Asn)
c.3531G>T (p.Lys1177Asn)
 gnomAD v4
22g.41160661T>ACA411696295EP300c.*1530T>A (n.*1530T>A)
c.3610T>A (p.Cys1204Ser)
c.3532T>A (p.Cys1178Ser)
 dbSNP
22g.41160661T>CCA411696298EP300c.*1530T>C (n.*1530T>C)
c.3610T>C (p.Cys1204Arg)
c.3532T>C (p.Cys1178Arg)
22g.41160661T>GCA411696300EP300c.*1530T>G (n.*1530T>G)
c.3610T>G (p.Cys1204Gly)
c.3532T>G (p.Cys1178Gly)
 dbSNP
22g.41160662G>ACA411696303EP300c.*1531G>A (n.*1531G>A)
c.3611G>A (p.Cys1204Tyr)
c.3533G>A (p.Cys1178Tyr)
22g.41160662G>CCA411696307EP300c.*1531G>C (n.*1531G>C)
c.3611G>C (p.Cys1204Ser)
c.3533G>C (p.Cys1178Ser)
22g.41160662G>TCA411696306EP300c.*1531G>T (n.*1531G>T)
c.3611G>T (p.Cys1204Phe)
c.3533G>T (p.Cys1178Phe)
 COSMIC
22g.41160663T>ACA411696310EP300c.*1532T>A (n.*1532T>A)
c.3612T>A (p.Cys1204Ter)
c.3534T>A (p.Cys1178Ter)
 dbSNP
22g.41160663T>CCA10253166EP300c.*1532T>C (n.*1532T>C)
c.3612T>C (p.Cys1204=)
c.3534T>C (p.Cys1178=)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.41160663T>GCA411696313EP300c.*1532T>G (n.*1532T>G)
c.3612T>G (p.Cys1204Trp)
c.3534T>G (p.Cys1178Trp)
22g.41160663T=CA2406108618EP300c.*1532T= (n.*1532T=)
c.3612T= (p.Cys1204=)
c.3534T= (p.Cys1178=)
22g.41160664T>ACA411696316EP300c.*1533T>A (n.*1533T>A)
c.3613T>A (p.Phe1205Ile)
c.3535T>A (p.Phe1179Ile)
 dbSNP
22g.41160664T>CCA411696319EP300c.*1533T>C (n.*1533T>C)
c.3613T>C (p.Phe1205Leu)
c.3535T>C (p.Phe1179Leu)
 dbSNP
22g.41160664T>GCA411696321EP300c.*1533T>G (n.*1533T>G)
c.3613T>G (p.Phe1205Val)
c.3535T>G (p.Phe1179Val)
22g.41160665T>ACA411696324EP300c.*1534T>A (n.*1534T>A)
c.3614T>A (p.Phe1205Tyr)
c.3536T>A (p.Phe1179Tyr)
 dbSNP
22g.41160665T>CCA411696327EP300c.*1534T>C (n.*1534T>C)
c.3614T>C (p.Phe1205Ser)
c.3536T>C (p.Phe1179Ser)
22g.41160665T>GCA411696329EP300c.*1534T>G (n.*1534T>G)
c.3614T>G (p.Phe1205Cys)
c.3536T>G (p.Phe1179Cys)
22g.41160666C>ACA411696332EP300c.*1535C>A (n.*1535C>A)
c.3615C>A (p.Phe1205Leu)
c.3537C>A (p.Phe1179Leu)
 dbSNP
22g.41160666C=CA2406108619EP300c.*1535C= (n.*1535C=)
c.3615C= (p.Phe1205=)
c.3537C= (p.Phe1179=)
22g.41160666C>GCA158498EP300c.*1535C>G (n.*1535C>G)
c.3615C>G (p.Phe1205Leu)
c.3537C>G (p.Phe1179Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.41160666C>TCA514646364EP300c.*1535C>T (n.*1535C>T)
c.3615C>T (p.Phe1205=)
c.3537C>T (p.Phe1179=)
 dbSNP
22g.41160667A>CCA411696339EP300c.*1536A>C (n.*1536A>C)
c.3616A>C (p.Asn1206His)
c.3538A>C (p.Asn1180His)
22g.41160667A>GCA411696341EP300c.*1536A>G (n.*1536A>G)
c.3616A>G (p.Asn1206Asp)
c.3538A>G (p.Asn1180Asp)
 dbSNP
22g.41160667A>TCA411696336EP300c.*1536A>T (n.*1536A>T)
c.3616A>T (p.Asn1206Tyr)
c.3538A>T (p.Asn1180Tyr)
 dbSNP gnomAD v4
22g.41160668A=CA2406108620EP300c.*1537A= (n.*1537A=)
c.3617A= (p.Asn1206=)
c.3539A= (p.Asn1180=)
22g.41160668A>CCA411696349EP300c.*1537A>C (n.*1537A>C)
c.3617A>C (p.Asn1206Thr)
c.3539A>C (p.Asn1180Thr)
22g.41160668A>GCA10253167EP300c.*1537A>G (n.*1537A>G)
c.3617A>G (p.Asn1206Ser)
c.3539A>G (p.Asn1180Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.41160668A>TCA411696346EP300c.*1537A>T (n.*1537A>T)
c.3617A>T (p.Asn1206Ile)
c.3539A>T (p.Asn1180Ile)
 dbSNP
22g.41160669T>ACA411696353EP300c.*1538T>A (n.*1538T>A)
c.3618T>A (p.Asn1206Lys)
c.3540T>A (p.Asn1180Lys)
 dbSNP
22g.41160669T>CCA514646368EP300c.*1538T>C (n.*1538T>C)
c.3618T>C (p.Asn1206=)
c.3540T>C (p.Asn1180=)
22g.41160669T>GCA411696354EP300c.*1538T>G (n.*1538T>G)
c.3618T>G (p.Asn1206Lys)
c.3540T>G (p.Asn1180Lys)
 gnomAD v3 gnomAD v4
22g.41160670G>ACA411696357EP300c.*1539G>A (n.*1539G>A)
c.3619G>A (p.Glu1207Lys)
c.3541G>A (p.Glu1181Lys)
22g.41160670G>CCA411696360EP300c.*1539G>C (n.*1539G>C)
c.3619G>C (p.Glu1207Gln)
c.3541G>C (p.Glu1181Gln)
22g.41160670G>TCA411696362EP300c.*1539G>T (n.*1539G>T)
c.3619G>T (p.Glu1207Ter)
c.3541G>T (p.Glu1181Ter)
 dbSNP COSMIC
22g.41160671A>CCA411696371EP300c.*1540A>C (n.*1540A>C)
c.3620A>C (p.Glu1207Ala)
c.3542A>C (p.Glu1181Ala)
22g.41160671A>GCA411696366EP300c.*1540A>G (n.*1540A>G)
c.3620A>G (p.Glu1207Gly)
c.3542A>G (p.Glu1181Gly)
22g.41160671A>TCA411696369EP300c.*1540A>T (n.*1540A>T)
c.3620A>T (p.Glu1207Val)
c.3542A>T (p.Glu1181Val)
22g.41160672G>ACA514646371EP300c.*1541G>A (n.*1541G>A)
c.3621G>A (p.Glu1207=)
c.3543G>A (p.Glu1181=)
 dbSNP COSMIC
22g.41160672G>CCA411696373EP300c.*1541G>C (n.*1541G>C)
c.3621G>C (p.Glu1207Asp)
c.3543G>C (p.Glu1181Asp)
 dbSNP
22g.41160672G>TCA411696375EP300c.*1541G>T (n.*1541G>T)
c.3621G>T (p.Glu1207Asp)
c.3543G>T (p.Glu1181Asp)
 dbSNP gnomAD v4
22g.41160673A>CCA411696378EP300c.*1542A>C (n.*1542A>C)
c.3622A>C (p.Ile1208Leu)
c.3544A>C (p.Ile1182Leu)
22g.41160673A>GCA411696381EP300c.*1542A>G (n.*1542A>G)
c.3622A>G (p.Ile1208Val)
c.3544A>G (p.Ile1182Val)
22g.41160673A>TCA411696383EP300c.*1542A>T (n.*1542A>T)
c.3622A>T (p.Ile1208Phe)
c.3544A>T (p.Ile1182Phe)
22g.41160674T>ACA411696386EP300c.*1543T>A (n.*1543T>A)
c.3623T>A (p.Ile1208Asn)
c.3545T>A (p.Ile1182Asn)
 dbSNP
22g.41160674T>CCA411696391EP300c.*1543T>C (n.*1543T>C)
c.3623T>C (p.Ile1208Thr)
c.3545T>C (p.Ile1182Thr)
22g.41160674T>GCA411696389EP300c.*1543T>G (n.*1543T>G)
c.3623T>G (p.Ile1208Ser)
c.3545T>G (p.Ile1182Ser)
 dbSNP
22g.41160675C>ACA10253168EP300c.*1544C>A (n.*1544C>A)
c.3624C>A (p.Ile1208=)
c.3546C>A (p.Ile1182=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.41160675C=CA2406108621EP300c.*1544C= (n.*1544C=)
c.3624C= (p.Ile1208=)
c.3546C= (p.Ile1182=)
22g.41160675C>GCA411696396EP300c.*1544C>G (n.*1544C>G)
c.3624C>G (p.Ile1208Met)
c.3546C>G (p.Ile1182Met)
 ClinVar dbSNP
22g.41160675C>TCA10253169EP300c.*1544C>T (n.*1544C>T)
c.3624C>T (p.Ile1208=)
c.3546C>T (p.Ile1182=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.41160676delCA2695230900EP300c.*1545del (n.*1545del)
c.3625del (p.Gln1209LysfsTer18)
c.3547del (p.Gln1183LysfsTer18)
22g.41160676C>ACA411696400EP300c.*1545C>A (n.*1545C>A)
c.3625C>A (p.Gln1209Lys)
c.3547C>A (p.Gln1183Lys)
22g.41160676C>GCA411696403EP300c.*1545C>G (n.*1545C>G)
c.3625C>G (p.Gln1209Glu)
c.3547C>G (p.Gln1183Glu)
 ClinVar gnomAD v4
22g.41160676C>TCA411696406EP300c.*1545C>T (n.*1545C>T)
c.3625C>T (p.Gln1209Ter)
c.3547C>T (p.Gln1183Ter)
22g.41160677A>CCA411696409EP300c.*1546A>C (n.*1546A>C)
c.3626A>C (p.Gln1209Pro)
c.3548A>C (p.Gln1183Pro)
22g.41160677A>GCA411696411EP300c.*1546A>G (n.*1546A>G)
c.3626A>G (p.Gln1209Arg)
c.3548A>G (p.Gln1183Arg)
 gnomAD v4
22g.41160677A>TCA411696413EP300c.*1546A>T (n.*1546A>T)
c.3626A>T (p.Gln1209Leu)
c.3548A>T (p.Gln1183Leu)
22g.41160678A=CA2406108622EP300c.*1547A= (n.*1547A=)
c.3627A= (p.Gln1209=)
c.3549A= (p.Gln1183=)
22g.41160678A>CCA411696416EP300c.*1547A>C (n.*1547A>C)
c.3627A>C (p.Gln1209His)
c.3549A>C (p.Gln1183His)
22g.41160678A>GCA514646378EP300c.*1547A>G (n.*1547A>G)
c.3627A>G (p.Gln1209=)
c.3549A>G (p.Gln1183=)
 dbSNP
22g.41160678A>TCA411696418EP300c.*1547A>T (n.*1547A>T)
c.3627A>T (p.Gln1209His)
c.3549A>T (p.Gln1183His)
 dbSNP gnomAD v2 gnomAD v4
22g.41160680_41160684delCA2737986557EP300c.*1549_*1553del (n.*1549_*1553del)
c.3629_3633del (p.Gly1210GlufsTer7)
c.3551_3555del (p.Gly1184GlufsTer7)
 dbSNP
22g.41160679G>ACA411696422EP300c.*1548G>A (n.*1548G>A)
c.3628G>A (p.Gly1210Arg)
c.3550G>A (p.Gly1184Arg)
 dbSNP
22g.41160679G>CCA411696427EP300c.*1548G>C (n.*1548G>C)
c.3628G>C (p.Gly1210Arg)
c.3550G>C (p.Gly1184Arg)
 dbSNP
22g.41160679G>TCA411696425EP300c.*1548G>T (n.*1548G>T)
c.3628G>T (p.Gly1210Trp)
c.3550G>T (p.Gly1184Trp)
 dbSNP
22g.41160680G>ACA411696430EP300c.*1549G>A (n.*1549G>A)
c.3629G>A (p.Gly1210Glu)
c.3551G>A (p.Gly1184Glu)
 dbSNP
22g.41160680G>CCA411696432EP300c.*1549G>C (n.*1549G>C)
c.3629G>C (p.Gly1210Ala)
c.3551G>C (p.Gly1184Ala)
 dbSNP
22g.41160680G>TCA411696435EP300c.*1549G>T (n.*1549G>T)
c.3629G>T (p.Gly1210Val)
c.3551G>T (p.Gly1184Val)
 dbSNP
22g.41160681G>ACA10253170EP300c.*1550G>A (n.*1550G>A)
c.3630G>A (p.Gly1210=)
c.3552G>A (p.Gly1184=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.41160681G>CCA514646382EP300c.*1550G>C (n.*1550G>C)
c.3630G>C (p.Gly1210=)
c.3552G>C (p.Gly1184=)
22g.41160681G=CA2406108623EP300c.*1550G= (n.*1550G=)
c.3630G= (p.Gly1210=)
c.3552G= (p.Gly1184=)
22g.41160681G>TCA514646381EP300c.*1550G>T (n.*1550G>T)
c.3630G>T (p.Gly1210=)
c.3552G>T (p.Gly1184=)
22g.41160682G>ACA411696440EP300c.*1551G>A (n.*1551G>A)
c.3631G>A (p.Glu1211Lys)
c.3553G>A (p.Glu1185Lys)
 dbSNP gnomAD v4
22g.41160682G>CCA411696441EP300c.*1551G>C (n.*1551G>C)
c.3631G>C (p.Glu1211Gln)
c.3553G>C (p.Glu1185Gln)
 dbSNP
22g.41160682G>TCA411696444EP300c.*1551G>T (n.*1551G>T)
c.3631G>T (p.Glu1211Ter)
c.3553G>T (p.Glu1185Ter)
 dbSNP
22g.41160683A=CA2406108624EP300c.*1552A= (n.*1552A=)
c.3632A= (p.Glu1211=)
c.3554A= (p.Glu1185=)
22g.41160683A>CCA411696448EP300c.*1552A>C (n.*1552A>C)
c.3632A>C (p.Glu1211Ala)
c.3554A>C (p.Glu1185Ala)
22g.41160683A>GCA411696450EP300c.*1552A>G (n.*1552A>G)
c.3632A>G (p.Glu1211Gly)
c.3554A>G (p.Glu1185Gly)
 dbSNP gnomAD v2
22g.41160683A>TCA411696452EP300c.*1552A>T (n.*1552A>T)
c.3632A>T (p.Glu1211Val)
c.3554A>T (p.Glu1185Val)
 dbSNP
22g.41160684G>ACA514646383EP300c.*1553G>A (n.*1553G>A)
c.3633G>A (p.Glu1211=)
c.3555G>A (p.Glu1185=)
 dbSNP
22g.41160684G>CCA411696455EP300c.*1553G>C (n.*1553G>C)
c.3633G>C (p.Glu1211Asp)
c.3555G>C (p.Glu1185Asp)
 dbSNP gnomAD v4
22g.41160684G=CA2406108625EP300c.*1553G= (n.*1553G=)
c.3633G= (p.Glu1211=)
c.3555G= (p.Glu1185=)
22g.41160684G>TCA10253171EP300c.*1553G>T (n.*1553G>T)
c.3633G>T (p.Glu1211Asp)
c.3555G>T (p.Glu1185Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.41160685A=CA2406108626EP300c.*1554A= (n.*1554A=)
c.3634A= (p.Ser1212=)
c.3556A= (p.Ser1186=)
22g.41160685A>CCA411696463EP300c.*1554A>C (n.*1554A>C)
c.3634A>C (p.Ser1212Arg)
c.3556A>C (p.Ser1186Arg)
22g.41160685A>GCA10253172EP300c.*1554A>G (n.*1554A>G)
c.3634A>G (p.Ser1212Gly)
c.3556A>G (p.Ser1186Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.41160685A>TCA411696461EP300c.*1554A>T (n.*1554A>T)
c.3634A>T (p.Ser1212Cys)
c.3556A>T (p.Ser1186Cys)
 dbSNP
22g.41160686G>ACA411696466EP300c.*1555G>A (n.*1555G>A)
c.3635G>A (p.Ser1212Asn)
c.3557G>A (p.Ser1186Asn)
 COSMIC
22g.41160686G>CCA411696469EP300c.*1555G>C (n.*1555G>C)
c.3635G>C (p.Ser1212Thr)
c.3557G>C (p.Ser1186Thr)
 dbSNP gnomAD v4
22g.41160686G>TCA411696471EP300c.*1555G>T (n.*1555G>T)
c.3635G>T (p.Ser1212Ile)
c.3557G>T (p.Ser1186Ile)
22g.41160687C>ACA411696473EP300c.*1556C>A (n.*1556C>A)
c.3636C>A (p.Ser1212Arg)
c.3558C>A (p.Ser1186Arg)
 dbSNP
22g.41160687C=CA2406108627EP300c.*1556C= (n.*1556C=)
c.3636C= (p.Ser1212=)
c.3558C= (p.Ser1186=)
22g.41160687C>GCA411696475EP300c.*1556C>G (n.*1556C>G)
c.3636C>G (p.Ser1212Arg)
c.3558C>G (p.Ser1186Arg)
 dbSNP
22g.41160687C>TCA324545450EP300c.*1556C>T (n.*1556C>T)
c.3636C>T (p.Ser1212=)
c.3558C>T (p.Ser1186=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.41160688G>ACA10253173EP300c.*1557G>A (n.*1557G>A)
c.3637G>A (p.Val1213Ile)
c.3559G>A (p.Val1187Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.41160688G>CCA411696480EP300c.*1557G>C (n.*1557G>C)
c.3637G>C (p.Val1213Leu)
c.3559G>C (p.Val1187Leu)
 dbSNP
22g.41160688G=CA2406108628EP300c.*1557G= (n.*1557G=)
c.3637G= (p.Val1213=)
c.3559G= (p.Val1187=)
22g.41160688G>TCA411696483EP300c.*1557G>T (n.*1557G>T)
c.3637G>T (p.Val1213Phe)
c.3559G>T (p.Val1187Phe)
22g.41160689T>ACA411696486EP300c.*1558T>A (n.*1558T>A)
c.3638T>A (p.Val1213Asp)
c.3560T>A (p.Val1187Asp)
 dbSNP
22g.41160689T>CCA411696488EP300c.*1558T>C (n.*1558T>C)
c.3638T>C (p.Val1213Ala)
c.3560T>C (p.Val1187Ala)
 dbSNP
22g.41160689T>GCA411696489EP300c.*1558T>G (n.*1558T>G)
c.3638T>G (p.Val1213Gly)
c.3560T>G (p.Val1187Gly)
 dbSNP
22g.41160690T>ACA514646387EP300c.*1559T>A (n.*1559T>A)
c.3639T>A (p.Val1213=)
c.3561T>A (p.Val1187=)
 dbSNP
22g.41160690T>CCA514646388EP300c.*1559T>C (n.*1559T>C)
c.3639T>C (p.Val1213=)
c.3561T>C (p.Val1187=)
 dbSNP
22g.41160690T>GCA514646389EP300c.*1559T>G (n.*1559T>G)
c.3639T>G (p.Val1213=)
c.3561T>G (p.Val1187=)
 dbSNP
22g.41160690T=CA2406108629EP300c.*1559T= (n.*1559T=)
c.3639T= (p.Val1213=)
c.3561T= (p.Val1187=)
22g.41160691T>ACA411696495EP300c.*1560T>A (n.*1560T>A)
c.3640T>A (p.Ser1214Thr)
c.3562T>A (p.Ser1188Thr)
 dbSNP
22g.41160691T>CCA411696497EP300c.*1560T>C (n.*1560T>C)
c.3640T>C (p.Ser1214Pro)
c.3562T>C (p.Ser1188Pro)
 gnomAD v4
22g.41160691T>GCA411696493EP300c.*1560T>G (n.*1560T>G)
c.3640T>G (p.Ser1214Ala)
c.3562T>G (p.Ser1188Ala)
 dbSNP gnomAD v4
22g.41160692C>ACA411696503EP300c.*1561C>A (n.*1561C>A)
c.3641C>A (p.Ser1214Tyr)
c.3563C>A (p.Ser1188Tyr)
 COSMIC
22g.41160692C=CA2406108630EP300c.*1561C= (n.*1561C=)
c.3641C= (p.Ser1214=)
c.3563C= (p.Ser1188=)
22g.41160692C>GCA411696498EP300c.*1561C>G (n.*1561C>G)
c.3641C>G (p.Ser1214Cys)
c.3563C>G (p.Ser1188Cys)
22g.41160692C>TCA411696500EP300c.*1561C>T (n.*1561C>T)
c.3641C>T (p.Ser1214Phe)
c.3563C>T (p.Ser1188Phe)
 dbSNP COSMIC
22g.41160693T>ACA514646395EP300c.*1562T>A (n.*1562T>A)
c.3642T>A (p.Ser1214=)
c.3564T>A (p.Ser1188=)
22g.41160693T>CCA324545455EP300c.*1562T>C (n.*1562T>C)
c.3642T>C (p.Ser1214=)
c.3564T>C (p.Ser1188=)
 dbSNP
22g.41160693T>GCA514646396EP300c.*1562T>G (n.*1562T>G)
c.3642T>G (p.Ser1214=)
c.3564T>G (p.Ser1188=)
22g.41160693T=CA2406108631EP300c.*1562T= (n.*1562T=)
c.3642T= (p.Ser1214=)
c.3564T= (p.Ser1188=)
22g.41160695dupCA2740097954EP300c.*1564dup (n.*1564dup)
c.3644dup (p.Leu1215PhefsTer4)
c.3566dup (p.Leu1189PhefsTer4)
 ClinVar
22g.41160695delCA2740097955EP300c.*1564del (n.*1564del)
c.3644del (p.Leu1215TrpfsTer12)
c.3566del (p.Leu1189TrpfsTer12)
 ClinVar
22g.41160694T>ACA411696508EP300c.*1563T>A (n.*1563T>A)
c.3643T>A (p.Leu1215Met)
c.3565T>A (p.Leu1189Met)
 dbSNP
22g.41160694T>CCA514646397EP300c.*1563T>C (n.*1563T>C)
c.3643T>C (p.Leu1215=)
c.3565T>C (p.Leu1189=)
22g.41160694T>GCA411696509EP300c.*1563T>G (n.*1563T>G)
c.3643T>G (p.Leu1215Val)
c.3565T>G (p.Leu1189Val)
22g.41160695T>ACA411696511EP300c.*1564T>A (n.*1564T>A)
c.3644T>A (p.Leu1215Ter)
c.3566T>A (p.Leu1189Ter)
22g.41160695T>CCA411696513EP300c.*1564T>C (n.*1564T>C)
c.3644T>C (p.Leu1215Ser)
c.3566T>C (p.Leu1189Ser)
22g.41160695T>GCA411696514EP300c.*1564T>G (n.*1564T>G)
c.3644T>G (p.Leu1215Trp)
c.3566T>G (p.Leu1189Trp)
22g.41160696G>ACA514646402EP300c.*1565G>A (n.*1565G>A)
c.3645G>A (p.Leu1215=)
c.3567G>A (p.Leu1189=)
22g.41160696G>CCA411696517EP300c.*1565G>C (n.*1565G>C)
c.3645G>C (p.Leu1215Phe)
c.3567G>C (p.Leu1189Phe)
22g.41160696G>TCA411696520EP300c.*1565G>T (n.*1565G>T)
c.3645G>T (p.Leu1215Phe)
c.3567G>T (p.Leu1189Phe)
22g.41160697G>ACA411696523EP300c.*1566G>A (n.*1566G>A)
c.3646G>A (p.Gly1216Arg)
c.3568G>A (p.Gly1190Arg)
 dbSNP
22g.41160697G>CCA411696525EP300c.*1566G>C (n.*1566G>C)
c.3646G>C (p.Gly1216Arg)
c.3568G>C (p.Gly1190Arg)
 dbSNP
22g.41160697G>TCA411696527EP300c.*1566G>T (n.*1566G>T)
c.3646G>T (p.Gly1216Trp)
c.3568G>T (p.Gly1190Trp)
 dbSNP
22g.41160698G>ACA411696530EP300c.*1567G>A (n.*1567G>A)
c.3647G>A (p.Gly1216Glu)
c.3569G>A (p.Gly1190Glu)
 dbSNP
22g.41160698G>CCA10253174EP300c.*1567G>C (n.*1567G>C)
c.3647G>C (p.Gly1216Ala)
c.3569G>C (p.Gly1190Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.41160698G=CA2406108632EP300c.*1567G= (n.*1567G=)
c.3647G= (p.Gly1216=)
c.3569G= (p.Gly1190=)
22g.41160698G>TCA411696532EP300c.*1567G>T (n.*1567G>T)
c.3647G>T (p.Gly1216Val)
c.3569G>T (p.Gly1190Val)
 dbSNP
22g.41160699G>ACA514646405EP300c.*1568G>A (n.*1568G>A)
c.3648G>A (p.Gly1216=)
c.3570G>A (p.Gly1190=)
 dbSNP
22g.41160699G>CCA514646407EP300c.*1568G>C (n.*1568G>C)
c.3648G>C (p.Gly1216=)
c.3570G>C (p.Gly1190=)
 dbSNP
22g.41160699G=CA2406108633EP300c.*1568G= (n.*1568G=)
c.3648G= (p.Gly1216=)
c.3570G= (p.Gly1190=)
22g.41160699G>TCA514646408EP300c.*1568G>T (n.*1568G>T)
c.3648G>T (p.Gly1216=)
c.3570G>T (p.Gly1190=)
 dbSNP COSMIC
22g.41160700G>ACA411696538EP300c.*1569G>A (n.*1569G>A)
c.3649G>A (p.Asp1217Asn)
c.3571G>A (p.Asp1191Asn)
 ClinVar dbSNP
22g.41160700G>CCA411696541EP300c.*1569G>C (n.*1569G>C)
c.3649G>C (p.Asp1217His)
c.3571G>C (p.Asp1191His)
 dbSNP
22g.41160700G=CA2406108634EP300c.*1569G= (n.*1569G=)
c.3649G= (p.Asp1217=)
c.3571G= (p.Asp1191=)
22g.41160700G>TCA411696543EP300c.*1569G>T (n.*1569G>T)
c.3649G>T (p.Asp1217Tyr)
c.3571G>T (p.Asp1191Tyr)
 dbSNP
22g.41160701A>CCA411696546EP300c.*1570A>C (n.*1570A>C)
c.3650A>C (p.Asp1217Ala)
c.3572A>C (p.Asp1191Ala)
22g.41160701A>GCA411696548EP300c.*1570A>G (n.*1570A>G)
c.3650A>G (p.Asp1217Gly)
c.3572A>G (p.Asp1191Gly)
 dbSNP
22g.41160701A>TCA411696551EP300c.*1570A>T (n.*1570A>T)
c.3650A>T (p.Asp1217Val)
c.3572A>T (p.Asp1191Val)
 dbSNP
22g.41160701dupCA2695230901EP300c.*1570dup (n.*1570dup)
c.3650dup (p.Asp1217GlufsTer2)
c.3572dup (p.Asp1191GlufsTer2)
22g.41160702T>ACA411696555EP300c.*1571T>A (n.*1571T>A)
c.3651T>A (p.Asp1217Glu)
c.3573T>A (p.Asp1191Glu)
 dbSNP gnomAD v4
22g.41160702T>CCA514646410EP300c.*1571T>C (n.*1571T>C)
c.3651T>C (p.Asp1217=)
c.3573T>C (p.Asp1191=)
 dbSNP
22g.41160702T>GCA411696556EP300c.*1571T>G (n.*1571T>G)
c.3651T>G (p.Asp1217Glu)
c.3573T>G (p.Asp1191Glu)
 dbSNP
22g.41160703G>ACA411696558EP300c.*1572G>A (n.*1572G>A)
c.3652G>A (p.Asp1218Asn)
c.3574G>A (p.Asp1192Asn)
 dbSNP
22g.41160703G>CCA411696560EP300c.*1572G>C (n.*1572G>C)
c.3652G>C (p.Asp1218His)
c.3574G>C (p.Asp1192His)
 dbSNP
22g.41160703G>TCA411696562EP300c.*1572G>T (n.*1572G>T)
c.3652G>T (p.Asp1218Tyr)
c.3574G>T (p.Asp1192Tyr)
22g.41160704A=CA2406108635EP300c.*1573A= (n.*1573A=)
c.3653A= (p.Asp1218=)
c.3575A= (p.Asp1192=)
22g.41160704A>CCA411696567EP300c.*1573A>C (n.*1573A>C)
c.3653A>C (p.Asp1218Ala)
c.3575A>C (p.Asp1192Ala)
 dbSNP
22g.41160704A>GCA411696570EP300c.*1573A>G (n.*1573A>G)
c.3653A>G (p.Asp1218Gly)
c.3575A>G (p.Asp1192Gly)
 dbSNP
22g.41160704A>TCA411696564EP300c.*1573A>T (n.*1573A>T)
c.3653A>T (p.Asp1218Val)
c.3575A>T (p.Asp1192Val)
 dbSNP
22g.41160705C>ACA411696573EP300c.*1574C>A (n.*1574C>A)
c.3654C>A (p.Asp1218Glu)
c.3576C>A (p.Asp1192Glu)
 dbSNP gnomAD v2 gnomAD v4
22g.41160705C=CA2406108636EP300c.*1574C= (n.*1574C=)
c.3654C= (p.Asp1218=)
c.3576C= (p.Asp1192=)
22g.41160705C>GCA411696575EP300c.*1574C>G (n.*1574C>G)
c.3654C>G (p.Asp1218Glu)
c.3576C>G (p.Asp1192Glu)
 dbSNP
22g.41160705C>TCA514646414EP300c.*1574C>T (n.*1574C>T)
c.3654C>T (p.Asp1218=)
c.3576C>T (p.Asp1192=)
 dbSNP gnomAD v4
22g.41160706C>ACA411696578EP300c.*1575C>A (n.*1575C>A)
c.3655C>A (p.Pro1219Thr)
c.3577C>A (p.Pro1193Thr)
 dbSNP
22g.41160706C=CA2406108637EP300c.*1575C= (n.*1575C=)
c.3655C= (p.Pro1219=)
c.3577C= (p.Pro1193=)
22g.41160706C>GCA411696581EP300c.*1575C>G (n.*1575C>G)
c.3655C>G (p.Pro1219Ala)
c.3577C>G (p.Pro1193Ala)
 dbSNP
22g.41160706C>TCA411696583EP300c.*1575C>T (n.*1575C>T)
c.3655C>T (p.Pro1219Ser)
c.3577C>T (p.Pro1193Ser)
 dbSNP gnomAD v2 gnomAD v4
22g.41160707C>ACA411696585EP300c.*1576C>A (n.*1576C>A)
c.3656C>A (p.Pro1219His)
c.3578C>A (p.Pro1193His)
 dbSNP
22g.41160707C>GCA411696588EP300c.*1576C>G (n.*1576C>G)
c.3656C>G (p.Pro1219Arg)
c.3578C>G (p.Pro1193Arg)
 dbSNP
22g.41160707C>TCA411696590EP300c.*1576C>T (n.*1576C>T)
c.3656C>T (p.Pro1219Leu)
c.3578C>T (p.Pro1193Leu)
 dbSNP
22g.41160708T>ACA514646421EP300c.*1577T>A (n.*1577T>A)
c.3657T>A (p.Pro1219=)
c.3579T>A (p.Pro1193=)
 dbSNP
22g.41160708T>CCA514646416EP300c.*1577T>C (n.*1577T>C)
c.3657T>C (p.Pro1219=)
c.3579T>C (p.Pro1193=)
 dbSNP
22g.41160708T>GCA514646418EP300c.*1577T>G (n.*1577T>G)
c.3657T>G (p.Pro1219=)
c.3579T>G (p.Pro1193=)
22g.41160709T>ACA411696592EP300c.*1578T>A (n.*1578T>A)
c.3658T>A (p.Ser1220Thr)
c.3580T>A (p.Ser1194Thr)
22g.41160709T>CCA10253175EP300c.*1578T>C (n.*1578T>C)
c.3658T>C (p.Ser1220Pro)
c.3580T>C (p.Ser1194Pro)
 dbSNP ExAC gnomAD v2
22g.41160709T>GCA411696598EP300c.*1578T>G (n.*1578T>G)
c.3658T>G (p.Ser1220Ala)
c.3580T>G (p.Ser1194Ala)
22g.41160709T=CA2406108638EP300c.*1578T= (n.*1578T=)
c.3658T= (p.Ser1220=)
c.3580T= (p.Ser1194=)
22g.41160710C>ACA411696600EP300c.*1579C>A (n.*1579C>A)
c.3659C>A (p.Ser1220Tyr)
c.3581C>A (p.Ser1194Tyr)
 dbSNP
22g.41160710C=CA2406108639EP300c.*1579C= (n.*1579C=)
c.3659C= (p.Ser1220=)
c.3581C= (p.Ser1194=)
22g.41160710C>GCA411696603EP300c.*1579C>G (n.*1579C>G)
c.3659C>G (p.Ser1220Cys)
c.3581C>G (p.Ser1194Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.41160710C>TCA411696606EP300c.*1579C>T (n.*1579C>T)
c.3659C>T (p.Ser1220Phe)
c.3581C>T (p.Ser1194Phe)
 dbSNP gnomAD v2 gnomAD v4
22g.41160712delCA658793930EP300c.*1581del (n.*1581del)
c.3661del (p.Gln1221SerfsTer6)
c.3583del (p.Gln1195SerfsTer6)

Number of alleles fetched