Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.32428146T>ACA408551337ASXL1c.271T>A (p.Ser91Thr)
n.214T>A
c.187T>A (p.Ser63Thr)
n.1075T>A
c.*110T>A (n.*110T>A)
n.19T>A
c.241T>A (p.Ser81Thr)
c.256T>A (p.Ser86Thr)
c.268T>A (p.Ser90Thr)
c.535T>A (p.Ser179Thr)
c.532T>A (p.Ser178Thr)
c.451T>A (p.Ser151Thr)
c.250T>A (p.Ser84Thr)
20g.32428146T>CCA408551339ASXL1c.271T>C (p.Ser91Pro)
n.214T>C
c.187T>C (p.Ser63Pro)
n.1075T>C
c.*110T>C (n.*110T>C)
n.19T>C
c.241T>C (p.Ser81Pro)
c.256T>C (p.Ser86Pro)
c.268T>C (p.Ser90Pro)
c.535T>C (p.Ser179Pro)
c.532T>C (p.Ser178Pro)
c.451T>C (p.Ser151Pro)
c.250T>C (p.Ser84Pro)
20g.32428146T>GCA408551341ASXL1c.271T>G (p.Ser91Ala)
n.214T>G
c.187T>G (p.Ser63Ala)
n.1075T>G
c.*110T>G (n.*110T>G)
n.19T>G
c.241T>G (p.Ser81Ala)
c.256T>G (p.Ser86Ala)
c.268T>G (p.Ser90Ala)
c.535T>G (p.Ser179Ala)
c.532T>G (p.Ser178Ala)
c.451T>G (p.Ser151Ala)
c.250T>G (p.Ser84Ala)
20g.32428147C>ACA408551342ASXL1c.272C>A (p.Ser91Tyr)
n.215C>A
c.188C>A (p.Ser63Tyr)
n.1076C>A
c.*111C>A (n.*111C>A)
n.20C>A
c.242C>A (p.Ser81Tyr)
c.257C>A (p.Ser86Tyr)
c.269C>A (p.Ser90Tyr)
c.536C>A (p.Ser179Tyr)
c.533C>A (p.Ser178Tyr)
c.452C>A (p.Ser151Tyr)
c.251C>A (p.Ser84Tyr)
 gnomAD v4
20g.32428147C>GCA408551345ASXL1c.272C>G (p.Ser91Cys)
n.215C>G
c.188C>G (p.Ser63Cys)
n.1076C>G
c.*111C>G (n.*111C>G)
n.20C>G
c.242C>G (p.Ser81Cys)
c.257C>G (p.Ser86Cys)
c.269C>G (p.Ser90Cys)
c.536C>G (p.Ser179Cys)
c.533C>G (p.Ser178Cys)
c.452C>G (p.Ser151Cys)
c.251C>G (p.Ser84Cys)
 dbSNP COSMIC
20g.32428147C>TCA408551344ASXL1c.272C>T (p.Ser91Phe)
n.215C>T
c.188C>T (p.Ser63Phe)
n.1076C>T
c.*111C>T (n.*111C>T)
n.20C>T
c.242C>T (p.Ser81Phe)
c.257C>T (p.Ser86Phe)
c.269C>T (p.Ser90Phe)
c.536C>T (p.Ser179Phe)
c.533C>T (p.Ser178Phe)
c.452C>T (p.Ser151Phe)
c.251C>T (p.Ser84Phe)
20g.32428148T>ACA510200403ASXL1c.273T>A (p.Ser91=)
n.216T>A
c.189T>A (p.Ser63=)
n.1077T>A
c.*112T>A (n.*112T>A)
n.21T>A
c.243T>A (p.Ser81=)
c.258T>A (p.Ser86=)
c.270T>A (p.Ser90=)
c.537T>A (p.Ser179=)
c.534T>A (p.Ser178=)
c.453T>A (p.Ser151=)
c.252T>A (p.Ser84=)
20g.32428148T>CCA510200404ASXL1c.273T>C (p.Ser91=)
n.216T>C
c.189T>C (p.Ser63=)
n.1077T>C
c.*112T>C (n.*112T>C)
n.21T>C
c.243T>C (p.Ser81=)
c.258T>C (p.Ser86=)
c.270T>C (p.Ser90=)
c.537T>C (p.Ser179=)
c.534T>C (p.Ser178=)
c.453T>C (p.Ser151=)
c.252T>C (p.Ser84=)
20g.32428148T>GCA510200402ASXL1c.273T>G (p.Ser91=)
n.216T>G
c.189T>G (p.Ser63=)
n.1077T>G
c.*112T>G (n.*112T>G)
n.21T>G
c.243T>G (p.Ser81=)
c.258T>G (p.Ser86=)
c.270T>G (p.Ser90=)
c.537T>G (p.Ser179=)
c.534T>G (p.Ser178=)
c.453T>G (p.Ser151=)
c.252T>G (p.Ser84=)
20g.32428149C>ACA408551347ASXL1c.274C>A (p.Arg92Ser)
n.217C>A
c.190C>A (p.Arg64Ser)
n.1078C>A
c.*113C>A (n.*113C>A)
n.22C>A
c.244C>A (p.Arg82Ser)
c.259C>A (p.Arg87Ser)
c.271C>A (p.Arg91Ser)
c.538C>A (p.Arg180Ser)
c.535C>A (p.Arg179Ser)
c.454C>A (p.Arg152Ser)
c.253C>A (p.Arg85Ser)
 dbSNP
20g.32428149C=CA2360289938ASXL1c.274C= (p.Arg92=)
n.217C=
c.190C= (p.Arg64=)
n.1078C=
c.*113C= (n.*113C=)
n.22C=
c.244C= (p.Arg82=)
c.259C= (p.Arg87=)
c.271C= (p.Arg91=)
c.538C= (p.Arg180=)
c.535C= (p.Arg179=)
c.454C= (p.Arg152=)
c.253C= (p.Arg85=)
20g.32428149C>GCA408551351ASXL1c.274C>G (p.Arg92Gly)
n.217C>G
c.190C>G (p.Arg64Gly)
n.1078C>G
c.*113C>G (n.*113C>G)
n.22C>G
c.244C>G (p.Arg82Gly)
c.259C>G (p.Arg87Gly)
c.271C>G (p.Arg91Gly)
c.538C>G (p.Arg180Gly)
c.535C>G (p.Arg179Gly)
c.454C>G (p.Arg152Gly)
c.253C>G (p.Arg85Gly)
20g.32428149C>TCA9808053ASXL1c.274C>T (p.Arg92Cys)
n.217C>T
c.190C>T (p.Arg64Cys)
n.1078C>T
c.*113C>T (n.*113C>T)
n.22C>T
c.244C>T (p.Arg82Cys)
c.259C>T (p.Arg87Cys)
c.271C>T (p.Arg91Cys)
c.538C>T (p.Arg180Cys)
c.535C>T (p.Arg179Cys)
c.454C>T (p.Arg152Cys)
c.253C>T (p.Arg85Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32428150G>ACA9808054ASXL1c.275G>A (p.Arg92His)
n.218G>A
c.191G>A (p.Arg64His)
n.1079G>A
c.*114G>A (n.*114G>A)
n.23G>A
c.245G>A (p.Arg82His)
c.260G>A (p.Arg87His)
c.272G>A (p.Arg91His)
c.539G>A (p.Arg180His)
c.536G>A (p.Arg179His)
c.455G>A (p.Arg152His)
c.254G>A (p.Arg85His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32428150G>CCA408551354ASXL1c.275G>C (p.Arg92Pro)
n.218G>C
c.191G>C (p.Arg64Pro)
n.1079G>C
c.*114G>C (n.*114G>C)
n.23G>C
c.245G>C (p.Arg82Pro)
c.260G>C (p.Arg87Pro)
c.272G>C (p.Arg91Pro)
c.539G>C (p.Arg180Pro)
c.536G>C (p.Arg179Pro)
c.455G>C (p.Arg152Pro)
c.254G>C (p.Arg85Pro)
20g.32428150G=CA2360289939ASXL1c.275G= (p.Arg92=)
n.218G=
c.191G= (p.Arg64=)
n.1079G=
c.*114G= (n.*114G=)
n.23G=
c.245G= (p.Arg82=)
c.260G= (p.Arg87=)
c.272G= (p.Arg91=)
c.539G= (p.Arg180=)
c.536G= (p.Arg179=)
c.455G= (p.Arg152=)
c.254G= (p.Arg85=)
20g.32428150G>TCA408551356ASXL1c.275G>T (p.Arg92Leu)
n.218G>T
c.191G>T (p.Arg64Leu)
n.1079G>T
c.*114G>T (n.*114G>T)
n.23G>T
c.245G>T (p.Arg82Leu)
c.260G>T (p.Arg87Leu)
c.272G>T (p.Arg91Leu)
c.539G>T (p.Arg180Leu)
c.536G>T (p.Arg179Leu)
c.455G>T (p.Arg152Leu)
c.254G>T (p.Arg85Leu)
20g.32428151C>ACA510200405ASXL1c.276C>A (p.Arg92=)
n.219C>A
c.192C>A (p.Arg64=)
n.1080C>A
c.*115C>A (n.*115C>A)
n.24C>A
c.246C>A (p.Arg82=)
c.261C>A (p.Arg87=)
c.273C>A (p.Arg91=)
c.540C>A (p.Arg180=)
c.537C>A (p.Arg179=)
c.456C>A (p.Arg152=)
c.255C>A (p.Arg85=)
20g.32428151C>GCA510200406ASXL1c.276C>G (p.Arg92=)
n.219C>G
c.192C>G (p.Arg64=)
n.1080C>G
c.*115C>G (n.*115C>G)
n.24C>G
c.246C>G (p.Arg82=)
c.261C>G (p.Arg87=)
c.273C>G (p.Arg91=)
c.540C>G (p.Arg180=)
c.537C>G (p.Arg179=)
c.456C>G (p.Arg152=)
c.255C>G (p.Arg85=)
20g.32428151C>TCA510200407ASXL1c.276C>T (p.Arg92=)
n.219C>T
c.192C>T (p.Arg64=)
n.1080C>T
c.*115C>T (n.*115C>T)
n.24C>T
c.246C>T (p.Arg82=)
c.261C>T (p.Arg87=)
c.273C>T (p.Arg91=)
c.540C>T (p.Arg180=)
c.537C>T (p.Arg179=)
c.456C>T (p.Arg152=)
c.255C>T (p.Arg85=)
20g.32428152C>ACA408551358ASXL1c.277C>A (p.His93Asn)
n.220C>A
c.193C>A (p.His65Asn)
n.1081C>A
c.*116C>A (n.*116C>A)
n.25C>A
c.247C>A (p.His83Asn)
c.262C>A (p.His88Asn)
c.274C>A (p.His92Asn)
c.541C>A (p.His181Asn)
c.538C>A (p.His180Asn)
c.457C>A (p.His153Asn)
c.256C>A (p.His86Asn)
 dbSNP
20g.32428152C>GCA408551359ASXL1c.277C>G (p.His93Asp)
n.220C>G
c.193C>G (p.His65Asp)
n.1081C>G
c.*116C>G (n.*116C>G)
n.25C>G
c.247C>G (p.His83Asp)
c.262C>G (p.His88Asp)
c.274C>G (p.His92Asp)
c.541C>G (p.His181Asp)
c.538C>G (p.His180Asp)
c.457C>G (p.His153Asp)
c.256C>G (p.His86Asp)
20g.32428152C>TCA408551361ASXL1c.277C>T (p.His93Tyr)
n.220C>T
c.193C>T (p.His65Tyr)
n.1081C>T
c.*116C>T (n.*116C>T)
n.25C>T
c.247C>T (p.His83Tyr)
c.262C>T (p.His88Tyr)
c.274C>T (p.His92Tyr)
c.541C>T (p.His181Tyr)
c.538C>T (p.His180Tyr)
c.457C>T (p.His153Tyr)
c.256C>T (p.His86Tyr)
20g.32428153A>CCA408551365ASXL1c.278A>C (p.His93Pro)
n.221A>C
c.194A>C (p.His65Pro)
n.1082A>C
c.*117A>C (n.*117A>C)
n.26A>C
c.248A>C (p.His83Pro)
c.263A>C (p.His88Pro)
c.275A>C (p.His92Pro)
c.542A>C (p.His181Pro)
c.539A>C (p.His180Pro)
c.458A>C (p.His153Pro)
c.257A>C (p.His86Pro)
20g.32428153A>GCA408551367ASXL1c.278A>G (p.His93Arg)
n.221A>G
c.194A>G (p.His65Arg)
n.1082A>G
c.*117A>G (n.*117A>G)
n.26A>G
c.248A>G (p.His83Arg)
c.263A>G (p.His88Arg)
c.275A>G (p.His92Arg)
c.542A>G (p.His181Arg)
c.539A>G (p.His180Arg)
c.458A>G (p.His153Arg)
c.257A>G (p.His86Arg)
20g.32428153A>TCA408551364ASXL1c.278A>T (p.His93Leu)
n.221A>T
c.194A>T (p.His65Leu)
n.1082A>T
c.*117A>T (n.*117A>T)
n.26A>T
c.248A>T (p.His83Leu)
c.263A>T (p.His88Leu)
c.275A>T (p.His92Leu)
c.542A>T (p.His181Leu)
c.539A>T (p.His180Leu)
c.458A>T (p.His153Leu)
c.257A>T (p.His86Leu)
20g.32428154T>ACA408551369ASXL1c.279T>A (p.His93Gln)
n.222T>A
c.195T>A (p.His65Gln)
n.1083T>A
c.*118T>A (n.*118T>A)
n.27T>A
c.249T>A (p.His83Gln)
c.264T>A (p.His88Gln)
c.276T>A (p.His92Gln)
c.543T>A (p.His181Gln)
c.540T>A (p.His180Gln)
c.459T>A (p.His153Gln)
c.258T>A (p.His86Gln)
20g.32428154T>CCA510200408ASXL1c.279T>C (p.His93=)
n.222T>C
c.195T>C (p.His65=)
n.1083T>C
c.*118T>C (n.*118T>C)
n.27T>C
c.249T>C (p.His83=)
c.264T>C (p.His88=)
c.276T>C (p.His92=)
c.543T>C (p.His181=)
c.540T>C (p.His180=)
c.459T>C (p.His153=)
c.258T>C (p.His86=)
20g.32428154T>GCA408551371ASXL1c.279T>G (p.His93Gln)
n.222T>G
c.195T>G (p.His65Gln)
n.1083T>G
c.*118T>G (n.*118T>G)
n.27T>G
c.249T>G (p.His83Gln)
c.264T>G (p.His88Gln)
c.276T>G (p.His92Gln)
c.543T>G (p.His181Gln)
c.540T>G (p.His180Gln)
c.459T>G (p.His153Gln)
c.258T>G (p.His86Gln)
20g.32428155C>ACA408551372ASXL1c.280C>A (p.Pro94Thr)
n.223C>A
c.196C>A (p.Pro66Thr)
n.1084C>A
c.*119C>A (n.*119C>A)
n.28C>A
c.250C>A (p.Pro84Thr)
c.265C>A (p.Pro89Thr)
c.277C>A (p.Pro93Thr)
c.544C>A (p.Pro182Thr)
c.541C>A (p.Pro181Thr)
c.460C>A (p.Pro154Thr)
c.259C>A (p.Pro87Thr)
20g.32428155C=CA2360289940ASXL1c.280C= (p.Pro94=)
n.223C=
c.196C= (p.Pro66=)
n.1084C=
c.*119C= (n.*119C=)
n.28C=
c.250C= (p.Pro84=)
c.265C= (p.Pro89=)
c.277C= (p.Pro93=)
c.544C= (p.Pro182=)
c.541C= (p.Pro181=)
c.460C= (p.Pro154=)
c.259C= (p.Pro87=)
20g.32428155C>GCA408551374ASXL1c.280C>G (p.Pro94Ala)
n.223C>G
c.196C>G (p.Pro66Ala)
n.1084C>G
c.*119C>G (n.*119C>G)
n.28C>G
c.250C>G (p.Pro84Ala)
c.265C>G (p.Pro89Ala)
c.277C>G (p.Pro93Ala)
c.544C>G (p.Pro182Ala)
c.541C>G (p.Pro181Ala)
c.460C>G (p.Pro154Ala)
c.259C>G (p.Pro87Ala)
 dbSNP
20g.32428155C>TCA408551375ASXL1c.280C>T (p.Pro94Ser)
n.223C>T
c.196C>T (p.Pro66Ser)
n.1084C>T
c.*119C>T (n.*119C>T)
n.28C>T
c.250C>T (p.Pro84Ser)
c.265C>T (p.Pro89Ser)
c.277C>T (p.Pro93Ser)
c.544C>T (p.Pro182Ser)
c.541C>T (p.Pro181Ser)
c.460C>T (p.Pro154Ser)
c.259C>T (p.Pro87Ser)
 ClinVar
20g.32428156C>ACA408551378ASXL1c.281C>A (p.Pro94Gln)
n.224C>A
c.197C>A (p.Pro66Gln)
n.1085C>A
c.*120C>A (n.*120C>A)
n.29C>A
c.251C>A (p.Pro84Gln)
c.266C>A (p.Pro89Gln)
c.278C>A (p.Pro93Gln)
c.545C>A (p.Pro182Gln)
c.542C>A (p.Pro181Gln)
c.461C>A (p.Pro154Gln)
c.260C>A (p.Pro87Gln)
20g.32428156C>GCA408551377ASXL1c.281C>G (p.Pro94Arg)
n.224C>G
c.197C>G (p.Pro66Arg)
n.1085C>G
c.*120C>G (n.*120C>G)
n.29C>G
c.251C>G (p.Pro84Arg)
c.266C>G (p.Pro89Arg)
c.278C>G (p.Pro93Arg)
c.545C>G (p.Pro182Arg)
c.542C>G (p.Pro181Arg)
c.461C>G (p.Pro154Arg)
c.260C>G (p.Pro87Arg)
20g.32428156C>TCA408551376ASXL1c.281C>T (p.Pro94Leu)
n.224C>T
c.197C>T (p.Pro66Leu)
n.1085C>T
c.*120C>T (n.*120C>T)
n.29C>T
c.251C>T (p.Pro84Leu)
c.266C>T (p.Pro89Leu)
c.278C>T (p.Pro93Leu)
c.545C>T (p.Pro182Leu)
c.542C>T (p.Pro181Leu)
c.461C>T (p.Pro154Leu)
c.260C>T (p.Pro87Leu)
20g.32428157A>CCA510200409ASXL1c.282A>C (p.Pro94=)
n.225A>C
c.198A>C (p.Pro66=)
n.1086A>C
c.*121A>C (n.*121A>C)
n.30A>C
c.252A>C (p.Pro84=)
c.267A>C (p.Pro89=)
c.279A>C (p.Pro93=)
c.546A>C (p.Pro182=)
c.543A>C (p.Pro181=)
c.462A>C (p.Pro154=)
c.261A>C (p.Pro87=)
20g.32428157A>GCA510200410ASXL1c.282A>G (p.Pro94=)
n.225A>G
c.198A>G (p.Pro66=)
n.1086A>G
c.*121A>G (n.*121A>G)
n.30A>G
c.252A>G (p.Pro84=)
c.267A>G (p.Pro89=)
c.279A>G (p.Pro93=)
c.546A>G (p.Pro182=)
c.543A>G (p.Pro181=)
c.462A>G (p.Pro154=)
c.261A>G (p.Pro87=)
 gnomAD v4
20g.32428157A>TCA510200411ASXL1c.282A>T (p.Pro94=)
n.225A>T
c.198A>T (p.Pro66=)
n.1086A>T
c.*121A>T (n.*121A>T)
n.30A>T
c.252A>T (p.Pro84=)
c.267A>T (p.Pro89=)
c.279A>T (p.Pro93=)
c.546A>T (p.Pro182=)
c.543A>T (p.Pro181=)
c.462A>T (p.Pro154=)
c.261A>T (p.Pro87=)
20g.32428158G>ACA408551380ASXL1c.283G>A (p.Ala95Thr)
n.226G>A
c.199G>A (p.Ala67Thr)
n.1087G>A
c.*122G>A (n.*122G>A)
n.31G>A
c.253G>A (p.Ala85Thr)
c.268G>A (p.Ala90Thr)
c.280G>A (p.Ala94Thr)
c.547G>A (p.Ala183Thr)
c.544G>A (p.Ala182Thr)
c.463G>A (p.Ala155Thr)
c.262G>A (p.Ala88Thr)
 dbSNP gnomAD v4
20g.32428158G>CCA408551381ASXL1c.283G>C (p.Ala95Pro)
n.226G>C
c.199G>C (p.Ala67Pro)
n.1087G>C
c.*122G>C (n.*122G>C)
n.31G>C
c.253G>C (p.Ala85Pro)
c.268G>C (p.Ala90Pro)
c.280G>C (p.Ala94Pro)
c.547G>C (p.Ala183Pro)
c.544G>C (p.Ala182Pro)
c.463G>C (p.Ala155Pro)
c.262G>C (p.Ala88Pro)
20g.32428158G=CA2360289941ASXL1c.283G= (p.Ala95=)
n.226G=
c.199G= (p.Ala67=)
n.1087G=
c.*122G= (n.*122G=)
n.31G=
c.253G= (p.Ala85=)
c.268G= (p.Ala90=)
c.280G= (p.Ala94=)
c.547G= (p.Ala183=)
c.544G= (p.Ala182=)
c.463G= (p.Ala155=)
c.262G= (p.Ala88=)
20g.32428158G>TCA408551382ASXL1c.283G>T (p.Ala95Ser)
n.226G>T
c.199G>T (p.Ala67Ser)
n.1087G>T
c.*122G>T (n.*122G>T)
n.31G>T
c.253G>T (p.Ala85Ser)
c.268G>T (p.Ala90Ser)
c.280G>T (p.Ala94Ser)
c.547G>T (p.Ala183Ser)
c.544G>T (p.Ala182Ser)
c.463G>T (p.Ala155Ser)
c.262G>T (p.Ala88Ser)
20g.32428159C>ACA408551383ASXL1c.284C>A (p.Ala95Asp)
n.227C>A
c.200C>A (p.Ala67Asp)
n.1088C>A
c.*123C>A (n.*123C>A)
n.32C>A
c.254C>A (p.Ala85Asp)
c.269C>A (p.Ala90Asp)
c.281C>A (p.Ala94Asp)
c.548C>A (p.Ala183Asp)
c.545C>A (p.Ala182Asp)
c.464C>A (p.Ala155Asp)
c.263C>A (p.Ala88Asp)
20g.32428159C>GCA408551384ASXL1c.284C>G (p.Ala95Gly)
n.227C>G
c.200C>G (p.Ala67Gly)
n.1088C>G
c.*123C>G (n.*123C>G)
n.32C>G
c.254C>G (p.Ala85Gly)
c.269C>G (p.Ala90Gly)
c.281C>G (p.Ala94Gly)
c.548C>G (p.Ala183Gly)
c.545C>G (p.Ala182Gly)
c.464C>G (p.Ala155Gly)
c.263C>G (p.Ala88Gly)
20g.32428159C>TCA408551386ASXL1c.284C>T (p.Ala95Val)
n.227C>T
c.200C>T (p.Ala67Val)
n.1088C>T
c.*123C>T (n.*123C>T)
n.32C>T
c.254C>T (p.Ala85Val)
c.269C>T (p.Ala90Val)
c.281C>T (p.Ala94Val)
c.548C>T (p.Ala183Val)
c.545C>T (p.Ala182Val)
c.464C>T (p.Ala155Val)
c.263C>T (p.Ala88Val)
 COSMIC COSMIC
20g.32428160T>ACA510200412ASXL1c.285T>A (p.Ala95=)
n.228T>A
c.201T>A (p.Ala67=)
n.1089T>A
c.*124T>A (n.*124T>A)
n.33T>A
c.255T>A (p.Ala85=)
c.270T>A (p.Ala90=)
c.282T>A (p.Ala94=)
c.549T>A (p.Ala183=)
c.546T>A (p.Ala182=)
c.465T>A (p.Ala155=)
c.264T>A (p.Ala88=)
20g.32428160T>CCA510200413ASXL1c.285T>C (p.Ala95=)
n.228T>C
c.201T>C (p.Ala67=)
n.1089T>C
c.*124T>C (n.*124T>C)
n.33T>C
c.255T>C (p.Ala85=)
c.270T>C (p.Ala90=)
c.282T>C (p.Ala94=)
c.549T>C (p.Ala183=)
c.546T>C (p.Ala182=)
c.465T>C (p.Ala155=)
c.264T>C (p.Ala88=)
20g.32428160T>GCA510200414ASXL1c.285T>G (p.Ala95=)
n.228T>G
c.201T>G (p.Ala67=)
n.1089T>G
c.*124T>G (n.*124T>G)
n.33T>G
c.255T>G (p.Ala85=)
c.270T>G (p.Ala90=)
c.282T>G (p.Ala94=)
c.549T>G (p.Ala183=)
c.546T>G (p.Ala182=)
c.465T>G (p.Ala155=)
c.264T>G (p.Ala88=)
 dbSNP gnomAD v4
20g.32428160T=CA2360289942ASXL1c.285T= (p.Ala95=)
n.228T=
c.201T= (p.Ala67=)
n.1089T=
c.*124T= (n.*124T=)
n.33T=
c.255T= (p.Ala85=)
c.270T= (p.Ala90=)
c.282T= (p.Ala94=)
c.549T= (p.Ala183=)
c.546T= (p.Ala182=)
c.465T= (p.Ala155=)
c.264T= (p.Ala88=)
20g.32428161A=CA2360289943ASXL1c.286A= (p.Thr96=)
n.229A=
c.202A= (p.Thr68=)
n.1090A=
c.*125A= (n.*125A=)
n.34A=
c.256A= (p.Thr86=)
c.271A= (p.Thr91=)
c.283A= (p.Thr95=)
c.550A= (p.Thr184=)
c.547A= (p.Thr183=)
c.466A= (p.Thr156=)
c.265A= (p.Thr89=)
20g.32428161A>CCA408551388ASXL1c.286A>C (p.Thr96Pro)
n.229A>C
c.202A>C (p.Thr68Pro)
n.1090A>C
c.*125A>C (n.*125A>C)
n.34A>C
c.256A>C (p.Thr86Pro)
c.271A>C (p.Thr91Pro)
c.283A>C (p.Thr95Pro)
c.550A>C (p.Thr184Pro)
c.547A>C (p.Thr183Pro)
c.466A>C (p.Thr156Pro)
c.265A>C (p.Thr89Pro)
20g.32428161A>GCA9808055ASXL1c.286A>G (p.Thr96Ala)
n.229A>G
c.202A>G (p.Thr68Ala)
n.1090A>G
c.*125A>G (n.*125A>G)
n.34A>G
c.256A>G (p.Thr86Ala)
c.271A>G (p.Thr91Ala)
c.283A>G (p.Thr95Ala)
c.550A>G (p.Thr184Ala)
c.547A>G (p.Thr183Ala)
c.466A>G (p.Thr156Ala)
c.265A>G (p.Thr89Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32428161A>TCA408551389ASXL1c.286A>T (p.Thr96Ser)
n.229A>T
c.202A>T (p.Thr68Ser)
n.1090A>T
c.*125A>T (n.*125A>T)
n.34A>T
c.256A>T (p.Thr86Ser)
c.271A>T (p.Thr91Ser)
c.283A>T (p.Thr95Ser)
c.550A>T (p.Thr184Ser)
c.547A>T (p.Thr183Ser)
c.466A>T (p.Thr156Ser)
c.265A>T (p.Thr89Ser)
20g.32428162C>ACA408551391ASXL1c.287C>A (p.Thr96Lys)
n.230C>A
c.203C>A (p.Thr68Lys)
n.1091C>A
c.*126C>A (n.*126C>A)
n.35C>A
c.257C>A (p.Thr86Lys)
c.272C>A (p.Thr91Lys)
c.284C>A (p.Thr95Lys)
c.551C>A (p.Thr184Lys)
c.548C>A (p.Thr183Lys)
c.467C>A (p.Thr156Lys)
c.266C>A (p.Thr89Lys)
20g.32428162C>GCA408551395ASXL1c.287C>G (p.Thr96Arg)
n.230C>G
c.203C>G (p.Thr68Arg)
n.1091C>G
c.*126C>G (n.*126C>G)
n.35C>G
c.257C>G (p.Thr86Arg)
c.272C>G (p.Thr91Arg)
c.284C>G (p.Thr95Arg)
c.551C>G (p.Thr184Arg)
c.548C>G (p.Thr183Arg)
c.467C>G (p.Thr156Arg)
c.266C>G (p.Thr89Arg)
20g.32428162C>TCA408551396ASXL1c.287C>T (p.Thr96Ile)
n.230C>T
c.203C>T (p.Thr68Ile)
n.1091C>T
c.*126C>T (n.*126C>T)
n.35C>T
c.257C>T (p.Thr86Ile)
c.272C>T (p.Thr91Ile)
c.284C>T (p.Thr95Ile)
c.551C>T (p.Thr184Ile)
c.548C>T (p.Thr183Ile)
c.467C>T (p.Thr156Ile)
c.266C>T (p.Thr89Ile)
20g.32428163A=CA2360289944ASXL1c.288A= (p.Thr96=)
n.231A=
c.204A= (p.Thr68=)
n.1092A=
c.*127A= (n.*127A=)
n.36A=
c.258A= (p.Thr86=)
c.273A= (p.Thr91=)
c.285A= (p.Thr95=)
c.552A= (p.Thr184=)
c.549A= (p.Thr183=)
c.468A= (p.Thr156=)
c.267A= (p.Thr89=)
20g.32428163A>CCA510200415ASXL1c.288A>C (p.Thr96=)
n.231A>C
c.204A>C (p.Thr68=)
n.1092A>C
c.*127A>C (n.*127A>C)
n.36A>C
c.258A>C (p.Thr86=)
c.273A>C (p.Thr91=)
c.285A>C (p.Thr95=)
c.552A>C (p.Thr184=)
c.549A>C (p.Thr183=)
c.468A>C (p.Thr156=)
c.267A>C (p.Thr89=)
 dbSNP gnomAD v3 gnomAD v4
20g.32428163A>GCA510200416ASXL1c.288A>G (p.Thr96=)
n.231A>G
c.204A>G (p.Thr68=)
n.1092A>G
c.*127A>G (n.*127A>G)
n.36A>G
c.258A>G (p.Thr86=)
c.273A>G (p.Thr91=)
c.285A>G (p.Thr95=)
c.552A>G (p.Thr184=)
c.549A>G (p.Thr183=)
c.468A>G (p.Thr156=)
c.267A>G (p.Thr89=)
 gnomAD v4
20g.32428163A>TCA510200417ASXL1c.288A>T (p.Thr96=)
n.231A>T
c.204A>T (p.Thr68=)
n.1092A>T
c.*127A>T (n.*127A>T)
n.36A>T
c.258A>T (p.Thr86=)
c.273A>T (p.Thr91=)
c.285A>T (p.Thr95=)
c.552A>T (p.Thr184=)
c.549A>T (p.Thr183=)
c.468A>T (p.Thr156=)
c.267A>T (p.Thr89=)
20g.32428164G>ACA408551398ASXL1c.289G>A (p.Val97Met)
n.232G>A
c.205G>A (p.Val69Met)
n.1093G>A
c.*128G>A (n.*128G>A)
n.37G>A
c.259G>A (p.Val87Met)
c.274G>A (p.Val92Met)
c.286G>A (p.Val96Met)
c.553G>A (p.Val185Met)
c.550G>A (p.Val184Met)
c.469G>A (p.Val157Met)
c.268G>A (p.Val90Met)
20g.32428164G>CCA408551400ASXL1c.289G>C (p.Val97Leu)
n.232G>C
c.205G>C (p.Val69Leu)
n.1093G>C
c.*128G>C (n.*128G>C)
n.37G>C
c.259G>C (p.Val87Leu)
c.274G>C (p.Val92Leu)
c.286G>C (p.Val96Leu)
c.553G>C (p.Val185Leu)
c.550G>C (p.Val184Leu)
c.469G>C (p.Val157Leu)
c.268G>C (p.Val90Leu)
20g.32428164G>TCA408551402ASXL1c.289G>T (p.Val97Leu)
n.232G>T
c.205G>T (p.Val69Leu)
n.1093G>T
c.*128G>T (n.*128G>T)
n.37G>T
c.259G>T (p.Val87Leu)
c.274G>T (p.Val92Leu)
c.286G>T (p.Val96Leu)
c.553G>T (p.Val185Leu)
c.550G>T (p.Val184Leu)
c.469G>T (p.Val157Leu)
c.268G>T (p.Val90Leu)
20g.32428165T>ACA408551404ASXL1c.290T>A (p.Val97Glu)
n.233T>A
c.206T>A (p.Val69Glu)
n.1094T>A
c.*129T>A (n.*129T>A)
n.38T>A
c.260T>A (p.Val87Glu)
c.275T>A (p.Val92Glu)
c.287T>A (p.Val96Glu)
c.554T>A (p.Val185Glu)
c.551T>A (p.Val184Glu)
c.470T>A (p.Val157Glu)
c.269T>A (p.Val90Glu)
20g.32428165T>CCA408551405ASXL1c.290T>C (p.Val97Ala)
n.233T>C
c.206T>C (p.Val69Ala)
n.1094T>C
c.*129T>C (n.*129T>C)
n.38T>C
c.260T>C (p.Val87Ala)
c.275T>C (p.Val92Ala)
c.287T>C (p.Val96Ala)
c.554T>C (p.Val185Ala)
c.551T>C (p.Val184Ala)
c.470T>C (p.Val157Ala)
c.269T>C (p.Val90Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32428165T>GCA408551407ASXL1c.290T>G (p.Val97Gly)
n.233T>G
c.206T>G (p.Val69Gly)
n.1094T>G
c.*129T>G (n.*129T>G)
n.38T>G
c.260T>G (p.Val87Gly)
c.275T>G (p.Val92Gly)
c.287T>G (p.Val96Gly)
c.554T>G (p.Val185Gly)
c.551T>G (p.Val184Gly)
c.470T>G (p.Val157Gly)
c.269T>G (p.Val90Gly)
20g.32428165T=CA2360289945ASXL1c.290T= (p.Val97=)
n.233T=
c.206T= (p.Val69=)
n.1094T=
c.*129T= (n.*129T=)
n.38T=
c.260T= (p.Val87=)
c.275T= (p.Val92=)
c.287T= (p.Val96=)
c.554T= (p.Val185=)
c.551T= (p.Val184=)
c.470T= (p.Val157=)
c.269T= (p.Val90=)
20g.32428166G>ACA510200418ASXL1c.291G>A (p.Val97=)
n.234G>A
c.207G>A (p.Val69=)
n.1095G>A
c.*130G>A (n.*130G>A)
n.39G>A
c.261G>A (p.Val87=)
c.276G>A (p.Val92=)
c.288G>A (p.Val96=)
c.555G>A (p.Val185=)
c.552G>A (p.Val184=)
c.471G>A (p.Val157=)
c.270G>A (p.Val90=)
 gnomAD v4
20g.32428166G>CCA510200419ASXL1c.291G>C (p.Val97=)
n.234G>C
c.207G>C (p.Val69=)
n.1095G>C
c.*130G>C (n.*130G>C)
n.39G>C
c.261G>C (p.Val87=)
c.276G>C (p.Val92=)
c.288G>C (p.Val96=)
c.555G>C (p.Val185=)
c.552G>C (p.Val184=)
c.471G>C (p.Val157=)
c.270G>C (p.Val90=)
20g.32428166G>TCA510200420ASXL1c.291G>T (p.Val97=)
n.234G>T
c.207G>T (p.Val69=)
n.1095G>T
c.*130G>T (n.*130G>T)
n.39G>T
c.261G>T (p.Val87=)
c.276G>T (p.Val92=)
c.288G>T (p.Val96=)
c.555G>T (p.Val185=)
c.552G>T (p.Val184=)
c.471G>T (p.Val157=)
c.270G>T (p.Val90=)
20g.32428167G>ACA408551409ASXL1c.292G>A (p.Glu98Lys)
n.235G>A
c.208G>A (p.Glu70Lys)
n.1096G>A
c.*131G>A (n.*131G>A)
n.40G>A
c.262G>A (p.Glu88Lys)
c.277G>A (p.Glu93Lys)
c.289G>A (p.Glu97Lys)
c.556G>A (p.Glu186Lys)
c.553G>A (p.Glu185Lys)
c.472G>A (p.Glu158Lys)
c.271G>A (p.Glu91Lys)
20g.32428167G>CCA408551410ASXL1c.292G>C (p.Glu98Gln)
n.235G>C
c.208G>C (p.Glu70Gln)
n.1096G>C
c.*131G>C (n.*131G>C)
n.40G>C
c.262G>C (p.Glu88Gln)
c.277G>C (p.Glu93Gln)
c.289G>C (p.Glu97Gln)
c.556G>C (p.Glu186Gln)
c.553G>C (p.Glu185Gln)
c.472G>C (p.Glu158Gln)
c.271G>C (p.Glu91Gln)
20g.32428167G>TCA408551412ASXL1c.292G>T (p.Glu98Ter)
n.235G>T
c.208G>T (p.Glu70Ter)
n.1096G>T
c.*131G>T (n.*131G>T)
n.40G>T
c.262G>T (p.Glu88Ter)
c.277G>T (p.Glu93Ter)
c.289G>T (p.Glu97Ter)
c.556G>T (p.Glu186Ter)
c.553G>T (p.Glu185Ter)
c.472G>T (p.Glu158Ter)
c.271G>T (p.Glu91Ter)
20g.32428168A>CCA408551417ASXL1c.293A>C (p.Glu98Ala)
n.236A>C
c.209A>C (p.Glu70Ala)
n.1097A>C
c.*132A>C (n.*132A>C)
n.41A>C
c.263A>C (p.Glu88Ala)
c.278A>C (p.Glu93Ala)
c.290A>C (p.Glu97Ala)
c.557A>C (p.Glu186Ala)
c.554A>C (p.Glu185Ala)
c.473A>C (p.Glu158Ala)
c.272A>C (p.Glu91Ala)
20g.32428168A>GCA408551416ASXL1c.293A>G (p.Glu98Gly)
n.236A>G
c.209A>G (p.Glu70Gly)
n.1097A>G
c.*132A>G (n.*132A>G)
n.41A>G
c.263A>G (p.Glu88Gly)
c.278A>G (p.Glu93Gly)
c.290A>G (p.Glu97Gly)
c.557A>G (p.Glu186Gly)
c.554A>G (p.Glu185Gly)
c.473A>G (p.Glu158Gly)
c.272A>G (p.Glu91Gly)
20g.32428168A>TCA408551414ASXL1c.293A>T (p.Glu98Val)
n.236A>T
c.209A>T (p.Glu70Val)
n.1097A>T
c.*132A>T (n.*132A>T)
n.41A>T
c.263A>T (p.Glu88Val)
c.278A>T (p.Glu93Val)
c.290A>T (p.Glu97Val)
c.557A>T (p.Glu186Val)
c.554A>T (p.Glu185Val)
c.473A>T (p.Glu158Val)
c.272A>T (p.Glu91Val)
20g.32428169G>ACA510200421ASXL1c.294G>A (p.Glu98=)
n.237G>A
c.210G>A (p.Glu70=)
n.1098G>A
c.*133G>A (n.*133G>A)
n.42G>A
c.264G>A (p.Glu88=)
c.279G>A (p.Glu93=)
c.291G>A (p.Glu97=)
c.558G>A (p.Glu186=)
c.555G>A (p.Glu185=)
c.474G>A (p.Glu158=)
c.273G>A (p.Glu91=)
20g.32428169G>CCA408551421ASXL1c.294G>C (p.Glu98Asp)
n.237G>C
c.210G>C (p.Glu70Asp)
n.1098G>C
c.*133G>C (n.*133G>C)
n.42G>C
c.264G>C (p.Glu88Asp)
c.279G>C (p.Glu93Asp)
c.291G>C (p.Glu97Asp)
c.558G>C (p.Glu186Asp)
c.555G>C (p.Glu185Asp)
c.474G>C (p.Glu158Asp)
c.273G>C (p.Glu91Asp)
20g.32428169G>TCA408551419ASXL1c.294G>T (p.Glu98Asp)
n.237G>T
c.210G>T (p.Glu70Asp)
n.1098G>T
c.*133G>T (n.*133G>T)
n.42G>T
c.264G>T (p.Glu88Asp)
c.279G>T (p.Glu93Asp)
c.291G>T (p.Glu97Asp)
c.558G>T (p.Glu186Asp)
c.555G>T (p.Glu185Asp)
c.474G>T (p.Glu158Asp)
c.273G>T (p.Glu91Asp)
20g.32428170G>ACA313924084ASXL1c.295G>A (p.Gly99Arg)
n.238G>A
c.211G>A (p.Gly71Arg)
n.1099G>A
c.*134G>A (n.*134G>A)
n.43G>A
c.265G>A (p.Gly89Arg)
c.280G>A (p.Gly94Arg)
c.292G>A (p.Gly98Arg)
c.559G>A (p.Gly187Arg)
c.556G>A (p.Gly186Arg)
c.475G>A (p.Gly159Arg)
c.274G>A (p.Gly92Arg)
 dbSNP gnomAD v4
20g.32428170G>CCA408551422ASXL1c.295G>C (p.Gly99Arg)
n.238G>C
c.211G>C (p.Gly71Arg)
n.1099G>C
c.*134G>C (n.*134G>C)
n.43G>C
c.265G>C (p.Gly89Arg)
c.280G>C (p.Gly94Arg)
c.292G>C (p.Gly98Arg)
c.559G>C (p.Gly187Arg)
c.556G>C (p.Gly186Arg)
c.475G>C (p.Gly159Arg)
c.274G>C (p.Gly92Arg)
20g.32428170G=CA2360289946ASXL1c.295G= (p.Gly99=)
n.238G=
c.211G= (p.Gly71=)
n.1099G=
c.*134G= (n.*134G=)
n.43G=
c.265G= (p.Gly89=)
c.280G= (p.Gly94=)
c.292G= (p.Gly98=)
c.559G= (p.Gly187=)
c.556G= (p.Gly186=)
c.475G= (p.Gly159=)
c.274G= (p.Gly92=)
20g.32428170G>TCA408551424ASXL1c.295G>T (p.Gly99Ter)
n.238G>T
c.211G>T (p.Gly71Ter)
n.1099G>T
c.*134G>T (n.*134G>T)
n.43G>T
c.265G>T (p.Gly89Ter)
c.280G>T (p.Gly94Ter)
c.292G>T (p.Gly98Ter)
c.559G>T (p.Gly187Ter)
c.556G>T (p.Gly186Ter)
c.475G>T (p.Gly159Ter)
c.274G>T (p.Gly92Ter)
20g.32428171G>ACA408551427ASXL1c.296G>A (p.Gly99Glu)
n.239G>A
c.212G>A (p.Gly71Glu)
n.1100G>A
c.*135G>A (n.*135G>A)
n.44G>A
c.266G>A (p.Gly89Glu)
c.281G>A (p.Gly94Glu)
c.293G>A (p.Gly98Glu)
c.560G>A (p.Gly187Glu)
c.557G>A (p.Gly186Glu)
c.476G>A (p.Gly159Glu)
c.275G>A (p.Gly92Glu)
 gnomAD v4
20g.32428171G>CCA408551428ASXL1c.296G>C (p.Gly99Ala)
n.239G>C
c.212G>C (p.Gly71Ala)
n.1100G>C
c.*135G>C (n.*135G>C)
n.44G>C
c.266G>C (p.Gly89Ala)
c.281G>C (p.Gly94Ala)
c.293G>C (p.Gly98Ala)
c.560G>C (p.Gly187Ala)
c.557G>C (p.Gly186Ala)
c.476G>C (p.Gly159Ala)
c.275G>C (p.Gly92Ala)
20g.32428171G>TCA408551430ASXL1c.296G>T (p.Gly99Val)
n.239G>T
c.212G>T (p.Gly71Val)
n.1100G>T
c.*135G>T (n.*135G>T)
n.44G>T
c.266G>T (p.Gly89Val)
c.281G>T (p.Gly94Val)
c.293G>T (p.Gly98Val)
c.560G>T (p.Gly187Val)
c.557G>T (p.Gly186Val)
c.476G>T (p.Gly159Val)
c.275G>T (p.Gly92Val)
 ClinVar dbSNP
20g.32428172A>CCA510200424ASXL1c.297A>C (p.Gly99=)
n.240A>C
c.213A>C (p.Gly71=)
n.1101A>C
c.*136A>C (n.*136A>C)
n.1A>C
n.45A>C
c.267A>C (p.Gly89=)
c.282A>C (p.Gly94=)
c.294A>C (p.Gly98=)
c.561A>C (p.Gly187=)
c.558A>C (p.Gly186=)
c.477A>C (p.Gly159=)
c.276A>C (p.Gly92=)
20g.32428172A>GCA510200423ASXL1c.297A>G (p.Gly99=)
n.240A>G
c.213A>G (p.Gly71=)
n.1101A>G
c.*136A>G (n.*136A>G)
n.1A>G
n.45A>G
c.267A>G (p.Gly89=)
c.282A>G (p.Gly94=)
c.294A>G (p.Gly98=)
c.561A>G (p.Gly187=)
c.558A>G (p.Gly186=)
c.477A>G (p.Gly159=)
c.276A>G (p.Gly92=)
20g.32428172A>TCA510200422ASXL1c.297A>T (p.Gly99=)
n.240A>T
c.213A>T (p.Gly71=)
n.1101A>T
c.*136A>T (n.*136A>T)
n.1A>T
n.45A>T
c.267A>T (p.Gly89=)
c.282A>T (p.Gly94=)
c.294A>T (p.Gly98=)
c.561A>T (p.Gly187=)
c.558A>T (p.Gly186=)
c.477A>T (p.Gly159=)
c.276A>T (p.Gly92=)
20g.32428173G>ACA408551432ASXL1c.298G>A (p.Glu100Lys)
n.241G>A
c.214G>A (p.Glu72Lys)
n.1102G>A
c.*137G>A (n.*137G>A)
n.2G>A
n.46G>A
c.268G>A (p.Glu90Lys)
c.283G>A (p.Glu95Lys)
c.295G>A (p.Glu99Lys)
c.562G>A (p.Glu188Lys)
c.559G>A (p.Glu187Lys)
c.478G>A (p.Glu160Lys)
c.277G>A (p.Glu93Lys)
20g.32428173G>CCA408551434ASXL1c.298G>C (p.Glu100Gln)
n.241G>C
c.214G>C (p.Glu72Gln)
n.1102G>C
c.*137G>C (n.*137G>C)
n.2G>C
n.46G>C
c.268G>C (p.Glu90Gln)
c.283G>C (p.Glu95Gln)
c.295G>C (p.Glu99Gln)
c.562G>C (p.Glu188Gln)
c.559G>C (p.Glu187Gln)
c.478G>C (p.Glu160Gln)
c.277G>C (p.Glu93Gln)
 gnomAD v4
20g.32428173G>TCA408551435ASXL1c.298G>T (p.Glu100Ter)
n.241G>T
c.214G>T (p.Glu72Ter)
n.1102G>T
c.*137G>T (n.*137G>T)
n.2G>T
n.46G>T
c.268G>T (p.Glu90Ter)
c.283G>T (p.Glu95Ter)
c.295G>T (p.Glu99Ter)
c.562G>T (p.Glu188Ter)
c.559G>T (p.Glu187Ter)
c.478G>T (p.Glu160Ter)
c.277G>T (p.Glu93Ter)
20g.32428174A>CCA408551436ASXL1c.299A>C (p.Glu100Ala)
n.242A>C
c.215A>C (p.Glu72Ala)
n.1103A>C
c.*138A>C (n.*138A>C)
n.3A>C
n.47A>C
c.269A>C (p.Glu90Ala)
c.284A>C (p.Glu95Ala)
c.296A>C (p.Glu99Ala)
c.563A>C (p.Glu188Ala)
c.560A>C (p.Glu187Ala)
c.479A>C (p.Glu160Ala)
c.278A>C (p.Glu93Ala)
20g.32428174A>GCA408551438ASXL1c.299A>G (p.Glu100Gly)
n.242A>G
c.215A>G (p.Glu72Gly)
n.1103A>G
c.*138A>G (n.*138A>G)
n.3A>G
n.47A>G
c.269A>G (p.Glu90Gly)
c.284A>G (p.Glu95Gly)
c.296A>G (p.Glu99Gly)
c.563A>G (p.Glu188Gly)
c.560A>G (p.Glu187Gly)
c.479A>G (p.Glu160Gly)
c.278A>G (p.Glu93Gly)
 dbSNP
20g.32428174A>TCA408551439ASXL1c.299A>T (p.Glu100Val)
n.242A>T
c.215A>T (p.Glu72Val)
n.1103A>T
c.*138A>T (n.*138A>T)
n.3A>T
n.47A>T
c.269A>T (p.Glu90Val)
c.284A>T (p.Glu95Val)
c.296A>T (p.Glu99Val)
c.563A>T (p.Glu188Val)
c.560A>T (p.Glu187Val)
c.479A>T (p.Glu160Val)
c.278A>T (p.Glu93Val)
20g.32428175G>ACA510200425ASXL1c.300G>A (p.Glu100=)
n.243G>A
c.216G>A (p.Glu72=)
n.1104G>A
c.*139G>A (n.*139G>A)
n.4G>A
n.48G>A
c.270G>A (p.Glu90=)
c.285G>A (p.Glu95=)
c.297G>A (p.Glu99=)
c.564G>A (p.Glu188=)
c.561G>A (p.Glu187=)
c.480G>A (p.Glu160=)
c.279G>A (p.Glu93=)
20g.32428175G>CCA408551441ASXL1c.300G>C (p.Glu100Asp)
n.243G>C
c.216G>C (p.Glu72Asp)
n.1104G>C
c.*139G>C (n.*139G>C)
n.4G>C
n.48G>C
c.270G>C (p.Glu90Asp)
c.285G>C (p.Glu95Asp)
c.297G>C (p.Glu99Asp)
c.564G>C (p.Glu188Asp)
c.561G>C (p.Glu187Asp)
c.480G>C (p.Glu160Asp)
c.279G>C (p.Glu93Asp)
 gnomAD v4
20g.32428175G>TCA408551442ASXL1c.300G>T (p.Glu100Asp)
n.243G>T
c.216G>T (p.Glu72Asp)
n.1104G>T
c.*139G>T (n.*139G>T)
n.4G>T
n.48G>T
c.270G>T (p.Glu90Asp)
c.285G>T (p.Glu95Asp)
c.297G>T (p.Glu99Asp)
c.564G>T (p.Glu188Asp)
c.561G>T (p.Glu187Asp)
c.480G>T (p.Glu160Asp)
c.279G>T (p.Glu93Asp)
20g.32428176G>ACA408551447ASXL1c.301G>A (p.Glu101Lys)
n.244G>A
c.217G>A (p.Glu73Lys)
n.1105G>A
c.*140G>A (n.*140G>A)
n.5G>A
n.49G>A
c.271G>A (p.Glu91Lys)
c.286G>A (p.Glu96Lys)
c.298G>A (p.Glu100Lys)
c.565G>A (p.Glu189Lys)
c.562G>A (p.Glu188Lys)
c.481G>A (p.Glu161Lys)
c.280G>A (p.Glu94Lys)
20g.32428176G>CCA408551444ASXL1c.301G>C (p.Glu101Gln)
n.244G>C
c.217G>C (p.Glu73Gln)
n.1105G>C
c.*140G>C (n.*140G>C)
n.5G>C
n.49G>C
c.271G>C (p.Glu91Gln)
c.286G>C (p.Glu96Gln)
c.298G>C (p.Glu100Gln)
c.565G>C (p.Glu189Gln)
c.562G>C (p.Glu188Gln)
c.481G>C (p.Glu161Gln)
c.280G>C (p.Glu94Gln)
20g.32428176G>TCA408551446ASXL1c.301G>T (p.Glu101Ter)
n.244G>T
c.217G>T (p.Glu73Ter)
n.1105G>T
c.*140G>T (n.*140G>T)
n.5G>T
n.49G>T
c.271G>T (p.Glu91Ter)
c.286G>T (p.Glu96Ter)
c.298G>T (p.Glu100Ter)
c.565G>T (p.Glu189Ter)
c.562G>T (p.Glu188Ter)
c.481G>T (p.Glu161Ter)
c.280G>T (p.Glu94Ter)
20g.32428177A>CCA408551448ASXL1c.302A>C (p.Glu101Ala)
n.245A>C
c.218A>C (p.Glu73Ala)
n.1106A>C
c.*141A>C (n.*141A>C)
n.6A>C
n.50A>C
c.272A>C (p.Glu91Ala)
c.287A>C (p.Glu96Ala)
c.299A>C (p.Glu100Ala)
c.566A>C (p.Glu189Ala)
c.563A>C (p.Glu188Ala)
c.482A>C (p.Glu161Ala)
c.281A>C (p.Glu94Ala)
20g.32428177A>GCA408551449ASXL1c.302A>G (p.Glu101Gly)
n.245A>G
c.218A>G (p.Glu73Gly)
n.1106A>G
c.*141A>G (n.*141A>G)
n.6A>G
n.50A>G
c.272A>G (p.Glu91Gly)
c.287A>G (p.Glu96Gly)
c.299A>G (p.Glu100Gly)
c.566A>G (p.Glu189Gly)
c.563A>G (p.Glu188Gly)
c.482A>G (p.Glu161Gly)
c.281A>G (p.Glu94Gly)
20g.32428177A>TCA408551451ASXL1c.302A>T (p.Glu101Val)
n.245A>T
c.218A>T (p.Glu73Val)
n.1106A>T
c.*141A>T (n.*141A>T)
n.6A>T
n.50A>T
c.272A>T (p.Glu91Val)
c.287A>T (p.Glu96Val)
c.299A>T (p.Glu100Val)
c.566A>T (p.Glu189Val)
c.563A>T (p.Glu188Val)
c.482A>T (p.Glu161Val)
c.281A>T (p.Glu94Val)
20g.32428178G>ACA510200426ASXL1c.303G>A (p.Glu101=)
n.246G>A
c.219G>A (p.Glu73=)
n.1107G>A
c.*142G>A (n.*142G>A)
n.7G>A
n.51G>A
c.273G>A (p.Glu91=)
c.288G>A (p.Glu96=)
c.300G>A (p.Glu100=)
c.567G>A (p.Glu189=)
c.564G>A (p.Glu188=)
c.483G>A (p.Glu161=)
c.282G>A (p.Glu94=)
20g.32428178G>CCA408551454ASXL1c.303G>C (p.Glu101Asp)
n.246G>C
c.219G>C (p.Glu73Asp)
n.1107G>C
c.*142G>C (n.*142G>C)
n.7G>C
n.51G>C
c.273G>C (p.Glu91Asp)
c.288G>C (p.Glu96Asp)
c.300G>C (p.Glu100Asp)
c.567G>C (p.Glu189Asp)
c.564G>C (p.Glu188Asp)
c.483G>C (p.Glu161Asp)
c.282G>C (p.Glu94Asp)
20g.32428178G>TCA408551455ASXL1c.303G>T (p.Glu101Asp)
n.246G>T
c.219G>T (p.Glu73Asp)
n.1107G>T
c.*142G>T (n.*142G>T)
n.7G>T
n.51G>T
c.273G>T (p.Glu91Asp)
c.288G>T (p.Glu96Asp)
c.300G>T (p.Glu100Asp)
c.567G>T (p.Glu189Asp)
c.564G>T (p.Glu188Asp)
c.483G>T (p.Glu161Asp)
c.282G>T (p.Glu94Asp)
20g.32428179C>ACA408551457ASXL1c.304C>A (p.Pro102Thr)
n.247C>A
c.220C>A (p.Pro74Thr)
n.1108C>A
c.*143C>A (n.*143C>A)
n.8C>A
n.52C>A
c.274C>A (p.Pro92Thr)
c.289C>A (p.Pro97Thr)
c.301C>A (p.Pro101Thr)
c.568C>A (p.Pro190Thr)
c.565C>A (p.Pro189Thr)
c.484C>A (p.Pro162Thr)
c.283C>A (p.Pro95Thr)
 dbSNP
20g.32428179C>GCA408551459ASXL1c.304C>G (p.Pro102Ala)
n.247C>G
c.220C>G (p.Pro74Ala)
n.1108C>G
c.*143C>G (n.*143C>G)
n.8C>G
n.52C>G
c.274C>G (p.Pro92Ala)
c.289C>G (p.Pro97Ala)
c.301C>G (p.Pro101Ala)
c.568C>G (p.Pro190Ala)
c.565C>G (p.Pro189Ala)
c.484C>G (p.Pro162Ala)
c.283C>G (p.Pro95Ala)
20g.32428179C>TCA408551461ASXL1c.304C>T (p.Pro102Ser)
n.247C>T
c.220C>T (p.Pro74Ser)
n.1108C>T
c.*143C>T (n.*143C>T)
n.8C>T
n.52C>T
c.274C>T (p.Pro92Ser)
c.289C>T (p.Pro97Ser)
c.301C>T (p.Pro101Ser)
c.568C>T (p.Pro190Ser)
c.565C>T (p.Pro189Ser)
c.484C>T (p.Pro162Ser)
c.283C>T (p.Pro95Ser)
20g.32428180C>ACA408551464ASXL1c.305C>A (p.Pro102Gln)
n.248C>A
c.221C>A (p.Pro74Gln)
n.1109C>A
c.*144C>A (n.*144C>A)
n.9C>A
n.53C>A
c.275C>A (p.Pro92Gln)
c.290C>A (p.Pro97Gln)
c.302C>A (p.Pro101Gln)
c.569C>A (p.Pro190Gln)
c.566C>A (p.Pro189Gln)
c.485C>A (p.Pro162Gln)
c.284C>A (p.Pro95Gln)
20g.32428180C>GCA408551465ASXL1c.305C>G (p.Pro102Arg)
n.248C>G
c.221C>G (p.Pro74Arg)
n.1109C>G
c.*144C>G (n.*144C>G)
n.9C>G
n.53C>G
c.275C>G (p.Pro92Arg)
c.290C>G (p.Pro97Arg)
c.302C>G (p.Pro101Arg)
c.569C>G (p.Pro190Arg)
c.566C>G (p.Pro189Arg)
c.485C>G (p.Pro162Arg)
c.284C>G (p.Pro95Arg)
20g.32428180C>TCA408551466ASXL1c.305C>T (p.Pro102Leu)
n.248C>T
c.221C>T (p.Pro74Leu)
n.1109C>T
c.*144C>T (n.*144C>T)
n.9C>T
n.53C>T
c.275C>T (p.Pro92Leu)
c.290C>T (p.Pro97Leu)
c.302C>T (p.Pro101Leu)
c.569C>T (p.Pro190Leu)
c.566C>T (p.Pro189Leu)
c.485C>T (p.Pro162Leu)
c.284C>T (p.Pro95Leu)
20g.32428181A=CA2360289947ASXL1c.306A= (p.Pro102=)
n.249A=
c.222A= (p.Pro74=)
n.1110A=
c.*145A= (n.*145A=)
n.10A=
n.54A=
c.276A= (p.Pro92=)
c.291A= (p.Pro97=)
c.303A= (p.Pro101=)
c.570A= (p.Pro190=)
c.567A= (p.Pro189=)
c.486A= (p.Pro162=)
c.285A= (p.Pro95=)
20g.32428181A>CCA510200427ASXL1c.306A>C (p.Pro102=)
n.249A>C
c.222A>C (p.Pro74=)
n.1110A>C
c.*145A>C (n.*145A>C)
n.10A>C
n.54A>C
c.276A>C (p.Pro92=)
c.291A>C (p.Pro97=)
c.303A>C (p.Pro101=)
c.570A>C (p.Pro190=)
c.567A>C (p.Pro189=)
c.486A>C (p.Pro162=)
c.285A>C (p.Pro95=)
20g.32428181A>GCA510200428ASXL1c.306A>G (p.Pro102=)
n.249A>G
c.222A>G (p.Pro74=)
n.1110A>G
c.*145A>G (n.*145A>G)
n.10A>G
n.54A>G
c.276A>G (p.Pro92=)
c.291A>G (p.Pro97=)
c.303A>G (p.Pro101=)
c.570A>G (p.Pro190=)
c.567A>G (p.Pro189=)
c.486A>G (p.Pro162=)
c.285A>G (p.Pro95=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32428181A>TCA510200429ASXL1c.306A>T (p.Pro102=)
n.249A>T
c.222A>T (p.Pro74=)
n.1110A>T
c.*145A>T (n.*145A>T)
n.10A>T
n.54A>T
c.276A>T (p.Pro92=)
c.291A>T (p.Pro97=)
c.303A>T (p.Pro101=)
c.570A>T (p.Pro190=)
c.567A>T (p.Pro189=)
c.486A>T (p.Pro162=)
c.285A>T (p.Pro95=)
 dbSNP gnomAD v2 gnomAD v4
20g.32428182G>ACA408551471ASXL1c.307G>A (p.Glu103Lys)
n.250G>A
c.223G>A (p.Glu75Lys)
n.1111G>A
c.*146G>A (n.*146G>A)
n.11G>A
n.55G>A
c.277G>A (p.Glu93Lys)
c.292G>A (p.Glu98Lys)
c.304G>A (p.Glu102Lys)
c.571G>A (p.Glu191Lys)
c.568G>A (p.Glu190Lys)
c.487G>A (p.Glu163Lys)
c.286G>A (p.Glu96Lys)
20g.32428182G>CCA408551470ASXL1c.307G>C (p.Glu103Gln)
n.250G>C
c.223G>C (p.Glu75Gln)
n.1111G>C
c.*146G>C (n.*146G>C)
n.11G>C
n.55G>C
c.277G>C (p.Glu93Gln)
c.292G>C (p.Glu98Gln)
c.304G>C (p.Glu102Gln)
c.571G>C (p.Glu191Gln)
c.568G>C (p.Glu190Gln)
c.487G>C (p.Glu163Gln)
c.286G>C (p.Glu96Gln)
20g.32428182G>TCA408551468ASXL1c.307G>T (p.Glu103Ter)
n.250G>T
c.223G>T (p.Glu75Ter)
n.1111G>T
c.*146G>T (n.*146G>T)
n.11G>T
n.55G>T
c.277G>T (p.Glu93Ter)
c.292G>T (p.Glu98Ter)
c.304G>T (p.Glu102Ter)
c.571G>T (p.Glu191Ter)
c.568G>T (p.Glu190Ter)
c.487G>T (p.Glu163Ter)
c.286G>T (p.Glu96Ter)
20g.32428183A>CCA408551472ASXL1c.308A>C (p.Glu103Ala)
n.251A>C
c.224A>C (p.Glu75Ala)
n.1112A>C
c.*147A>C (n.*147A>C)
n.12A>C
n.56A>C
c.278A>C (p.Glu93Ala)
c.293A>C (p.Glu98Ala)
c.305A>C (p.Glu102Ala)
c.572A>C (p.Glu191Ala)
c.569A>C (p.Glu190Ala)
c.488A>C (p.Glu163Ala)
c.287A>C (p.Glu96Ala)
 gnomAD v4
20g.32428183A>GCA408551474ASXL1c.308A>G (p.Glu103Gly)
n.251A>G
c.224A>G (p.Glu75Gly)
n.1112A>G
c.*147A>G (n.*147A>G)
n.12A>G
n.56A>G
c.278A>G (p.Glu93Gly)
c.293A>G (p.Glu98Gly)
c.305A>G (p.Glu102Gly)
c.572A>G (p.Glu191Gly)
c.569A>G (p.Glu190Gly)
c.488A>G (p.Glu163Gly)
c.287A>G (p.Glu96Gly)
 dbSNP COSMIC COSMIC
20g.32428183A>TCA408551475ASXL1c.308A>T (p.Glu103Val)
n.251A>T
c.224A>T (p.Glu75Val)
n.1112A>T
c.*147A>T (n.*147A>T)
n.12A>T
n.56A>T
c.278A>T (p.Glu93Val)
c.293A>T (p.Glu98Val)
c.305A>T (p.Glu102Val)
c.572A>T (p.Glu191Val)
c.569A>T (p.Glu190Val)
c.488A>T (p.Glu163Val)
c.287A>T (p.Glu96Val)
20g.32428184G>ACA510200430ASXL1c.309G>A (p.Glu103=)
n.252G>A
c.225G>A (p.Glu75=)
n.1113G>A
c.*148G>A (n.*148G>A)
n.13G>A
n.57G>A
c.279G>A (p.Glu93=)
c.294G>A (p.Glu98=)
c.306G>A (p.Glu102=)
c.573G>A (p.Glu191=)
c.570G>A (p.Glu190=)
c.489G>A (p.Glu163=)
c.288G>A (p.Glu96=)
 dbSNP
20g.32428184G>CCA408551477ASXL1c.309G>C (p.Glu103Asp)
n.252G>C
c.225G>C (p.Glu75Asp)
n.1113G>C
c.*148G>C (n.*148G>C)
n.13G>C
n.57G>C
c.279G>C (p.Glu93Asp)
c.294G>C (p.Glu98Asp)
c.306G>C (p.Glu102Asp)
c.573G>C (p.Glu191Asp)
c.570G>C (p.Glu190Asp)
c.489G>C (p.Glu163Asp)
c.288G>C (p.Glu96Asp)
20g.32428184G=CA2360289948ASXL1c.309G= (p.Glu103=)
n.252G=
c.225G= (p.Glu75=)
n.1113G=
c.*148G= (n.*148G=)
n.13G=
n.57G=
c.279G= (p.Glu93=)
c.294G= (p.Glu98=)
c.306G= (p.Glu102=)
c.573G= (p.Glu191=)
c.570G= (p.Glu190=)
c.489G= (p.Glu163=)
c.288G= (p.Glu96=)
20g.32428184G>TCA9808056ASXL1c.309G>T (p.Glu103Asp)
n.252G>T
c.225G>T (p.Glu75Asp)
n.1113G>T
c.*148G>T (n.*148G>T)
n.13G>T
n.57G>T
c.279G>T (p.Glu93Asp)
c.294G>T (p.Glu98Asp)
c.306G>T (p.Glu102Asp)
c.573G>T (p.Glu191Asp)
c.570G>T (p.Glu190Asp)
c.489G>T (p.Glu163Asp)
c.288G>T (p.Glu96Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32428185G>ACA408551479ASXL1c.310G>A (p.Asp104Asn)
n.253G>A
c.226G>A (p.Asp76Asn)
n.1114G>A
c.*149G>A (n.*149G>A)
n.14G>A
n.58G>A
c.280G>A (p.Asp94Asn)
c.295G>A (p.Asp99Asn)
c.307G>A (p.Asp103Asn)
c.574G>A (p.Asp192Asn)
c.571G>A (p.Asp191Asn)
c.490G>A (p.Asp164Asn)
c.289G>A (p.Asp97Asn)
20g.32428185G>CCA408551481ASXL1c.310G>C (p.Asp104His)
n.253G>C
c.226G>C (p.Asp76His)
n.1114G>C
c.*149G>C (n.*149G>C)
n.14G>C
n.58G>C
c.280G>C (p.Asp94His)
c.295G>C (p.Asp99His)
c.307G>C (p.Asp103His)
c.574G>C (p.Asp192His)
c.571G>C (p.Asp191His)
c.490G>C (p.Asp164His)
c.289G>C (p.Asp97His)
20g.32428185G>TCA408551483ASXL1c.310G>T (p.Asp104Tyr)
n.253G>T
c.226G>T (p.Asp76Tyr)
n.1114G>T
c.*149G>T (n.*149G>T)
n.14G>T
n.58G>T
c.280G>T (p.Asp94Tyr)
c.295G>T (p.Asp99Tyr)
c.307G>T (p.Asp103Tyr)
c.574G>T (p.Asp192Tyr)
c.571G>T (p.Asp191Tyr)
c.490G>T (p.Asp164Tyr)
c.289G>T (p.Asp97Tyr)
20g.32428186A>CCA408551485ASXL1c.311A>C (p.Asp104Ala)
n.254A>C
c.227A>C (p.Asp76Ala)
n.1115A>C
c.*150A>C (n.*150A>C)
n.15A>C
n.59A>C
c.281A>C (p.Asp94Ala)
c.296A>C (p.Asp99Ala)
c.308A>C (p.Asp103Ala)
c.575A>C (p.Asp192Ala)
c.572A>C (p.Asp191Ala)
c.491A>C (p.Asp164Ala)
c.290A>C (p.Asp97Ala)
20g.32428186A>GCA408551487ASXL1c.311A>G (p.Asp104Gly)
n.254A>G
c.227A>G (p.Asp76Gly)
n.1115A>G
c.*150A>G (n.*150A>G)
n.15A>G
n.59A>G
c.281A>G (p.Asp94Gly)
c.296A>G (p.Asp99Gly)
c.308A>G (p.Asp103Gly)
c.575A>G (p.Asp192Gly)
c.572A>G (p.Asp191Gly)
c.491A>G (p.Asp164Gly)
c.290A>G (p.Asp97Gly)
20g.32428186A>TCA408551488ASXL1c.311A>T (p.Asp104Val)
n.254A>T
c.227A>T (p.Asp76Val)
n.1115A>T
c.*150A>T (n.*150A>T)
n.15A>T
n.59A>T
c.281A>T (p.Asp94Val)
c.296A>T (p.Asp99Val)
c.308A>T (p.Asp103Val)
c.575A>T (p.Asp192Val)
c.572A>T (p.Asp191Val)
c.491A>T (p.Asp164Val)
c.290A>T (p.Asp97Val)
20g.32428187C>ACA408551490ASXL1c.312C>A (p.Asp104Glu)
n.255C>A
c.228C>A (p.Asp76Glu)
n.1116C>A
c.*151C>A (n.*151C>A)
n.16C>A
n.60C>A
c.282C>A (p.Asp94Glu)
c.297C>A (p.Asp99Glu)
c.309C>A (p.Asp103Glu)
c.576C>A (p.Asp192Glu)
c.573C>A (p.Asp191Glu)
c.492C>A (p.Asp164Glu)
c.291C>A (p.Asp97Glu)
20g.32428187C>GCA408551492ASXL1c.312C>G (p.Asp104Glu)
n.255C>G
c.228C>G (p.Asp76Glu)
n.1116C>G
c.*151C>G (n.*151C>G)
n.16C>G
n.60C>G
c.282C>G (p.Asp94Glu)
c.297C>G (p.Asp99Glu)
c.309C>G (p.Asp103Glu)
c.576C>G (p.Asp192Glu)
c.573C>G (p.Asp191Glu)
c.492C>G (p.Asp164Glu)
c.291C>G (p.Asp97Glu)
20g.32428187C>TCA510200431ASXL1c.312C>T (p.Asp104=)
n.255C>T
c.228C>T (p.Asp76=)
n.1116C>T
c.*151C>T (n.*151C>T)
n.16C>T
n.60C>T
c.282C>T (p.Asp94=)
c.297C>T (p.Asp99=)
c.309C>T (p.Asp103=)
c.576C>T (p.Asp192=)
c.573C>T (p.Asp191=)
c.492C>T (p.Asp164=)
c.291C>T (p.Asp97=)
 gnomAD v4
20g.32428188A=CA2360289949ASXL1c.313A= (p.Thr105=)
n.256A=
c.229A= (p.Thr77=)
n.1117A=
c.*152A= (n.*152A=)
n.17A=
n.61A=
c.283A= (p.Thr95=)
c.298A= (p.Thr100=)
c.310A= (p.Thr104=)
c.577A= (p.Thr193=)
c.574A= (p.Thr192=)
c.493A= (p.Thr165=)
c.292A= (p.Thr98=)
20g.32428188A>CCA408551498ASXL1c.313A>C (p.Thr105Pro)
n.256A>C
c.229A>C (p.Thr77Pro)
n.1117A>C
c.*152A>C (n.*152A>C)
n.17A>C
n.61A>C
c.283A>C (p.Thr95Pro)
c.298A>C (p.Thr100Pro)
c.310A>C (p.Thr104Pro)
c.577A>C (p.Thr193Pro)
c.574A>C (p.Thr192Pro)
c.493A>C (p.Thr165Pro)
c.292A>C (p.Thr98Pro)
20g.32428188A>GCA408551494ASXL1c.313A>G (p.Thr105Ala)
n.256A>G
c.229A>G (p.Thr77Ala)
n.1117A>G
c.*152A>G (n.*152A>G)
n.17A>G
n.61A>G
c.283A>G (p.Thr95Ala)
c.298A>G (p.Thr100Ala)
c.310A>G (p.Thr104Ala)
c.577A>G (p.Thr193Ala)
c.574A>G (p.Thr192Ala)
c.493A>G (p.Thr165Ala)
c.292A>G (p.Thr98Ala)
 dbSNP gnomAD v3 gnomAD v4
20g.32428188A>TCA408551496ASXL1c.313A>T (p.Thr105Ser)
n.256A>T
c.229A>T (p.Thr77Ser)
n.1117A>T
c.*152A>T (n.*152A>T)
n.17A>T
n.61A>T
c.283A>T (p.Thr95Ser)
c.298A>T (p.Thr100Ser)
c.310A>T (p.Thr104Ser)
c.577A>T (p.Thr193Ser)
c.574A>T (p.Thr192Ser)
c.493A>T (p.Thr165Ser)
c.292A>T (p.Thr98Ser)
20g.32428189C>ACA408551500ASXL1c.314C>A (p.Thr105Lys)
n.257C>A
c.230C>A (p.Thr77Lys)
n.1118C>A
c.*153C>A (n.*153C>A)
n.18C>A
n.62C>A
c.284C>A (p.Thr95Lys)
c.299C>A (p.Thr100Lys)
c.311C>A (p.Thr104Lys)
c.578C>A (p.Thr193Lys)
c.575C>A (p.Thr192Lys)
c.494C>A (p.Thr165Lys)
c.293C>A (p.Thr98Lys)
20g.32428189C=CA2360289950ASXL1c.314C= (p.Thr105=)
n.257C=
c.230C= (p.Thr77=)
n.1118C=
c.*153C= (n.*153C=)
n.18C=
n.62C=
c.284C= (p.Thr95=)
c.299C= (p.Thr100=)
c.311C= (p.Thr104=)
c.578C= (p.Thr193=)
c.575C= (p.Thr192=)
c.494C= (p.Thr165=)
c.293C= (p.Thr98=)
20g.32428189C>GCA408551501ASXL1c.314C>G (p.Thr105Arg)
n.257C>G
c.230C>G (p.Thr77Arg)
n.1118C>G
c.*153C>G (n.*153C>G)
n.18C>G
n.62C>G
c.284C>G (p.Thr95Arg)
c.299C>G (p.Thr100Arg)
c.311C>G (p.Thr104Arg)
c.578C>G (p.Thr193Arg)
c.575C>G (p.Thr192Arg)
c.494C>G (p.Thr165Arg)
c.293C>G (p.Thr98Arg)
20g.32428189C>TCA9808057ASXL1c.314C>T (p.Thr105Met)
n.257C>T
c.230C>T (p.Thr77Met)
n.1118C>T
c.*153C>T (n.*153C>T)
n.18C>T
n.62C>T
c.284C>T (p.Thr95Met)
c.299C>T (p.Thr100Met)
c.311C>T (p.Thr104Met)
c.578C>T (p.Thr193Met)
c.575C>T (p.Thr192Met)
c.494C>T (p.Thr165Met)
c.293C>T (p.Thr98Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32428190G>ACA9808058ASXL1c.315G>A (p.Thr105=)
n.258G>A
c.231G>A (p.Thr77=)
n.1119G>A
c.*154G>A (n.*154G>A)
n.19G>A
n.63G>A
c.285G>A (p.Thr95=)
c.300G>A (p.Thr100=)
c.312G>A (p.Thr104=)
c.579G>A (p.Thr193=)
c.576G>A (p.Thr192=)
c.495G>A (p.Thr165=)
c.294G>A (p.Thr98=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32428190G>CCA510200433ASXL1c.315G>C (p.Thr105=)
n.258G>C
c.231G>C (p.Thr77=)
n.1119G>C
c.*154G>C (n.*154G>C)
n.19G>C
n.63G>C
c.285G>C (p.Thr95=)
c.300G>C (p.Thr100=)
c.312G>C (p.Thr104=)
c.579G>C (p.Thr193=)
c.576G>C (p.Thr192=)
c.495G>C (p.Thr165=)
c.294G>C (p.Thr98=)
 dbSNP
20g.32428190G=CA2360289951ASXL1c.315G= (p.Thr105=)
n.258G=
c.231G= (p.Thr77=)
n.1119G=
c.*154G= (n.*154G=)
n.19G=
n.63G=
c.285G= (p.Thr95=)
c.300G= (p.Thr100=)
c.312G= (p.Thr104=)
c.579G= (p.Thr193=)
c.576G= (p.Thr192=)
c.495G= (p.Thr165=)
c.294G= (p.Thr98=)
20g.32428190G>TCA510200432ASXL1c.315G>T (p.Thr105=)
n.258G>T
c.231G>T (p.Thr77=)
n.1119G>T
c.*154G>T (n.*154G>T)
n.19G>T
n.63G>T
c.285G>T (p.Thr95=)
c.300G>T (p.Thr100=)
c.312G>T (p.Thr104=)
c.579G>T (p.Thr193=)
c.576G>T (p.Thr192=)
c.495G>T (p.Thr165=)
c.294G>T (p.Thr98=)
 gnomAD v4
20g.32428191G>ACA408551503ASXL1c.316G>A (p.Ala106Thr)
n.259G>A
c.232G>A (p.Ala78Thr)
n.1120G>A
c.*155G>A (n.*155G>A)
n.20G>A
n.64G>A
c.286G>A (p.Ala96Thr)
c.301G>A (p.Ala101Thr)
c.313G>A (p.Ala105Thr)
c.580G>A (p.Ala194Thr)
c.577G>A (p.Ala193Thr)
c.496G>A (p.Ala166Thr)
c.295G>A (p.Ala99Thr)
 dbSNP gnomAD v4
20g.32428191G>CCA408551505ASXL1c.316G>C (p.Ala106Pro)
n.259G>C
c.232G>C (p.Ala78Pro)
n.1120G>C
c.*155G>C (n.*155G>C)
n.20G>C
n.64G>C
c.286G>C (p.Ala96Pro)
c.301G>C (p.Ala101Pro)
c.313G>C (p.Ala105Pro)
c.580G>C (p.Ala194Pro)
c.577G>C (p.Ala193Pro)
c.496G>C (p.Ala166Pro)
c.295G>C (p.Ala99Pro)
20g.32428191G=CA2360289952ASXL1c.316G= (p.Ala106=)
n.259G=
c.232G= (p.Ala78=)
n.1120G=
c.*155G= (n.*155G=)
n.20G=
n.64G=
c.286G= (p.Ala96=)
c.301G= (p.Ala101=)
c.313G= (p.Ala105=)
c.580G= (p.Ala194=)
c.577G= (p.Ala193=)
c.496G= (p.Ala166=)
c.295G= (p.Ala99=)
20g.32428191G>TCA408551507ASXL1c.316G>T (p.Ala106Ser)
n.259G>T
c.232G>T (p.Ala78Ser)
n.1120G>T
c.*155G>T (n.*155G>T)
n.20G>T
n.64G>T
c.286G>T (p.Ala96Ser)
c.301G>T (p.Ala101Ser)
c.313G>T (p.Ala105Ser)
c.580G>T (p.Ala194Ser)
c.577G>T (p.Ala193Ser)
c.496G>T (p.Ala166Ser)
c.295G>T (p.Ala99Ser)
20g.32428192C>ACA408551509ASXL1c.317C>A (p.Ala106Asp)
n.260C>A
c.233C>A (p.Ala78Asp)
n.1121C>A
c.*156C>A (n.*156C>A)
n.21C>A
n.65C>A
c.287C>A (p.Ala96Asp)
c.302C>A (p.Ala101Asp)
c.314C>A (p.Ala105Asp)
c.581C>A (p.Ala194Asp)
c.578C>A (p.Ala193Asp)
c.497C>A (p.Ala166Asp)
c.296C>A (p.Ala99Asp)
20g.32428192C>GCA408551510ASXL1c.317C>G (p.Ala106Gly)
n.260C>G
c.233C>G (p.Ala78Gly)
n.1121C>G
c.*156C>G (n.*156C>G)
n.21C>G
n.65C>G
c.287C>G (p.Ala96Gly)
c.302C>G (p.Ala101Gly)
c.314C>G (p.Ala105Gly)
c.581C>G (p.Ala194Gly)
c.578C>G (p.Ala193Gly)
c.497C>G (p.Ala166Gly)
c.296C>G (p.Ala99Gly)
20g.32428192C>TCA408551512ASXL1c.317C>T (p.Ala106Val)
n.260C>T
c.233C>T (p.Ala78Val)
n.1121C>T
c.*156C>T (n.*156C>T)
n.21C>T
n.65C>T
c.287C>T (p.Ala96Val)
c.302C>T (p.Ala101Val)
c.314C>T (p.Ala105Val)
c.581C>T (p.Ala194Val)
c.578C>T (p.Ala193Val)
c.497C>T (p.Ala166Val)
c.296C>T (p.Ala99Val)
 dbSNP
20g.32428193T>ACA510200434ASXL1c.318T>A (p.Ala106=)
n.261T>A
c.234T>A (p.Ala78=)
n.1122T>A
c.*157T>A (n.*157T>A)
n.22T>A
n.66T>A
c.288T>A (p.Ala96=)
c.303T>A (p.Ala101=)
c.315T>A (p.Ala105=)
c.582T>A (p.Ala194=)
c.579T>A (p.Ala193=)
c.498T>A (p.Ala166=)
c.297T>A (p.Ala99=)
 gnomAD v4
20g.32428193T>CCA510200435ASXL1c.318T>C (p.Ala106=)
n.261T>C
c.234T>C (p.Ala78=)
n.1122T>C
c.*157T>C (n.*157T>C)
n.22T>C
n.66T>C
c.288T>C (p.Ala96=)
c.303T>C (p.Ala101=)
c.315T>C (p.Ala105=)
c.582T>C (p.Ala194=)
c.579T>C (p.Ala193=)
c.498T>C (p.Ala166=)
c.297T>C (p.Ala99=)
20g.32428193T>GCA510200436ASXL1c.318T>G (p.Ala106=)
n.261T>G
c.234T>G (p.Ala78=)
n.1122T>G
c.*157T>G (n.*157T>G)
n.22T>G
n.66T>G
c.288T>G (p.Ala96=)
c.303T>G (p.Ala101=)
c.315T>G (p.Ala105=)
c.582T>G (p.Ala194=)
c.579T>G (p.Ala193=)
c.498T>G (p.Ala166=)
c.297T>G (p.Ala99=)
20g.32428194G>ACA408551513ASXL1c.319G>A (p.Asp107Asn)
n.262G>A
c.235G>A (p.Asp79Asn)
n.1123G>A
c.*158G>A (n.*158G>A)
n.23G>A
n.67G>A
c.289G>A (p.Asp97Asn)
c.304G>A (p.Asp102Asn)
c.316G>A (p.Asp106Asn)
c.583G>A (p.Asp195Asn)
c.580G>A (p.Asp194Asn)
c.499G>A (p.Asp167Asn)
c.298G>A (p.Asp100Asn)
 dbSNP gnomAD v4
20g.32428194G>CCA408551515ASXL1c.319G>C (p.Asp107His)
n.262G>C
c.235G>C (p.Asp79His)
n.1123G>C
c.*158G>C (n.*158G>C)
n.23G>C
n.67G>C
c.289G>C (p.Asp97His)
c.304G>C (p.Asp102His)
c.316G>C (p.Asp106His)
c.583G>C (p.Asp195His)
c.580G>C (p.Asp194His)
c.499G>C (p.Asp167His)
c.298G>C (p.Asp100His)
20g.32428194G>TCA408551516ASXL1c.319G>T (p.Asp107Tyr)
n.262G>T
c.235G>T (p.Asp79Tyr)
n.1123G>T
c.*158G>T (n.*158G>T)
n.23G>T
n.67G>T
c.289G>T (p.Asp97Tyr)
c.304G>T (p.Asp102Tyr)
c.316G>T (p.Asp106Tyr)
c.583G>T (p.Asp195Tyr)
c.580G>T (p.Asp194Tyr)
c.499G>T (p.Asp167Tyr)
c.298G>T (p.Asp100Tyr)
20g.32428195A>CCA408551520ASXL1c.320A>C (p.Asp107Ala)
n.263A>C
c.236A>C (p.Asp79Ala)
n.1124A>C
c.*159A>C (n.*159A>C)
n.24A>C
n.68A>C
c.290A>C (p.Asp97Ala)
c.305A>C (p.Asp102Ala)
c.317A>C (p.Asp106Ala)
c.584A>C (p.Asp195Ala)
c.581A>C (p.Asp194Ala)
c.500A>C (p.Asp167Ala)
c.299A>C (p.Asp100Ala)
20g.32428195A>GCA408551522ASXL1c.320A>G (p.Asp107Gly)
n.263A>G
c.236A>G (p.Asp79Gly)
n.1124A>G
c.*159A>G (n.*159A>G)
n.24A>G
n.68A>G
c.290A>G (p.Asp97Gly)
c.305A>G (p.Asp102Gly)
c.317A>G (p.Asp106Gly)
c.584A>G (p.Asp195Gly)
c.581A>G (p.Asp194Gly)
c.500A>G (p.Asp167Gly)
c.299A>G (p.Asp100Gly)
20g.32428195A>TCA408551518ASXL1c.320A>T (p.Asp107Val)
n.263A>T
c.236A>T (p.Asp79Val)
n.1124A>T
c.*159A>T (n.*159A>T)
n.24A>T
n.68A>T
c.290A>T (p.Asp97Val)
c.305A>T (p.Asp102Val)
c.317A>T (p.Asp106Val)
c.584A>T (p.Asp195Val)
c.581A>T (p.Asp194Val)
c.500A>T (p.Asp167Val)
c.299A>T (p.Asp100Val)
20g.32428196T>ACA408551523ASXL1c.321T>A (p.Asp107Glu)
n.264T>A
c.237T>A (p.Asp79Glu)
n.1125T>A
c.*160T>A (n.*160T>A)
n.25T>A
n.69T>A
c.291T>A (p.Asp97Glu)
c.306T>A (p.Asp102Glu)
c.318T>A (p.Asp106Glu)
c.585T>A (p.Asp195Glu)
c.582T>A (p.Asp194Glu)
c.501T>A (p.Asp167Glu)
c.300T>A (p.Asp100Glu)
20g.32428196T>CCA510200437ASXL1c.321T>C (p.Asp107=)
n.264T>C
c.237T>C (p.Asp79=)
n.1125T>C
c.*160T>C (n.*160T>C)
n.25T>C
n.69T>C
c.291T>C (p.Asp97=)
c.306T>C (p.Asp102=)
c.318T>C (p.Asp106=)
c.585T>C (p.Asp195=)
c.582T>C (p.Asp194=)
c.501T>C (p.Asp167=)
c.300T>C (p.Asp100=)
20g.32428196T>GCA408551524ASXL1c.321T>G (p.Asp107Glu)
n.264T>G
c.237T>G (p.Asp79Glu)
n.1125T>G
c.*160T>G (n.*160T>G)
n.25T>G
n.69T>G
c.291T>G (p.Asp97Glu)
c.306T>G (p.Asp102Glu)
c.318T>G (p.Asp106Glu)
c.585T>G (p.Asp195Glu)
c.582T>G (p.Asp194Glu)
c.501T>G (p.Asp167Glu)
c.300T>G (p.Asp100Glu)
20g.32428197G>ACA408551526ASXL1c.322G>A (p.Val108Met)
n.265G>A
c.238G>A (p.Val80Met)
n.1126G>A
c.*161G>A (n.*161G>A)
n.26G>A
n.70G>A
c.292G>A (p.Val98Met)
c.307G>A (p.Val103Met)
c.319G>A (p.Val107Met)
c.586G>A (p.Val196Met)
c.583G>A (p.Val195Met)
c.502G>A (p.Val168Met)
c.301G>A (p.Val101Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.32428197G>CCA408551529ASXL1c.322G>C (p.Val108Leu)
n.265G>C
c.238G>C (p.Val80Leu)
n.1126G>C
c.*161G>C (n.*161G>C)
n.26G>C
n.70G>C
c.292G>C (p.Val98Leu)
c.307G>C (p.Val103Leu)
c.319G>C (p.Val107Leu)
c.586G>C (p.Val196Leu)
c.583G>C (p.Val195Leu)
c.502G>C (p.Val168Leu)
c.301G>C (p.Val101Leu)
20g.32428197G=CA2360289953ASXL1c.322G= (p.Val108=)
n.265G=
c.238G= (p.Val80=)
n.1126G=
c.*161G= (n.*161G=)
n.26G=
n.70G=
c.292G= (p.Val98=)
c.307G= (p.Val103=)
c.319G= (p.Val107=)
c.586G= (p.Val196=)
c.583G= (p.Val195=)
c.502G= (p.Val168=)
c.301G= (p.Val101=)
20g.32428197G>TCA408551528ASXL1c.322G>T (p.Val108Leu)
n.265G>T
c.238G>T (p.Val80Leu)
n.1126G>T
c.*161G>T (n.*161G>T)
n.26G>T
n.70G>T
c.292G>T (p.Val98Leu)
c.307G>T (p.Val103Leu)
c.319G>T (p.Val107Leu)
c.586G>T (p.Val196Leu)
c.583G>T (p.Val195Leu)
c.502G>T (p.Val168Leu)
c.301G>T (p.Val101Leu)
20g.32428198T>ACA408551532ASXL1c.323T>A (p.Val108Glu)
n.266T>A
c.239T>A (p.Val80Glu)
n.1127T>A
c.*162T>A (n.*162T>A)
n.27T>A
n.71T>A
c.293T>A (p.Val98Glu)
c.308T>A (p.Val103Glu)
c.320T>A (p.Val107Glu)
c.587T>A (p.Val196Glu)
c.584T>A (p.Val195Glu)
c.503T>A (p.Val168Glu)
c.302T>A (p.Val101Glu)
20g.32428198T>CCA408551533ASXL1c.323T>C (p.Val108Ala)
n.266T>C
c.239T>C (p.Val80Ala)
n.1127T>C
c.*162T>C (n.*162T>C)
n.27T>C
n.71T>C
c.293T>C (p.Val98Ala)
c.308T>C (p.Val103Ala)
c.320T>C (p.Val107Ala)
c.587T>C (p.Val196Ala)
c.584T>C (p.Val195Ala)
c.503T>C (p.Val168Ala)
c.302T>C (p.Val101Ala)
20g.32428198T>GCA408551535ASXL1c.323T>G (p.Val108Gly)
n.266T>G
c.239T>G (p.Val80Gly)
n.1127T>G
c.*162T>G (n.*162T>G)
n.27T>G
n.71T>G
c.293T>G (p.Val98Gly)
c.308T>G (p.Val103Gly)
c.320T>G (p.Val107Gly)
c.587T>G (p.Val196Gly)
c.584T>G (p.Val195Gly)
c.503T>G (p.Val168Gly)
c.302T>G (p.Val101Gly)
20g.32428199G>ACA510200438ASXL1c.324G>A (p.Val108=)
n.267G>A
c.240G>A (p.Val80=)
n.1128G>A
c.*163G>A (n.*163G>A)
n.28G>A
n.72G>A
c.294G>A (p.Val98=)
c.309G>A (p.Val103=)
c.321G>A (p.Val107=)
c.588G>A (p.Val196=)
c.585G>A (p.Val195=)
c.504G>A (p.Val168=)
c.303G>A (p.Val101=)
20g.32428199G>CCA510200439ASXL1c.324G>C (p.Val108=)
n.267G>C
c.240G>C (p.Val80=)
n.1128G>C
c.*163G>C (n.*163G>C)
n.28G>C
n.72G>C
c.294G>C (p.Val98=)
c.309G>C (p.Val103=)
c.321G>C (p.Val107=)
c.588G>C (p.Val196=)
c.585G>C (p.Val195=)
c.504G>C (p.Val168=)
c.303G>C (p.Val101=)
20g.32428199G>TCA510200440ASXL1c.324G>T (p.Val108=)
n.267G>T
c.240G>T (p.Val80=)
n.1128G>T
c.*163G>T (n.*163G>T)
n.28G>T
n.72G>T
c.294G>T (p.Val98=)
c.309G>T (p.Val103=)
c.321G>T (p.Val107=)
c.588G>T (p.Val196=)
c.585G>T (p.Val195=)
c.504G>T (p.Val168=)
c.303G>T (p.Val101=)
20g.32428200G>ACA408551537ASXL1c.325G>A (p.Glu109Lys)
n.268G>A
c.241G>A (p.Glu81Lys)
n.1129G>A
c.*164G>A (n.*164G>A)
n.29G>A
n.73G>A
c.295G>A (p.Glu99Lys)
c.310G>A (p.Glu104Lys)
c.322G>A (p.Glu108Lys)
c.589G>A (p.Glu197Lys)
c.586G>A (p.Glu196Lys)
c.505G>A (p.Glu169Lys)
c.304G>A (p.Glu102Lys)
20g.32428200G>CCA408551538ASXL1c.325G>C (p.Glu109Gln)
n.268G>C
c.241G>C (p.Glu81Gln)
n.1129G>C
c.*164G>C (n.*164G>C)
n.29G>C
n.73G>C
c.295G>C (p.Glu99Gln)
c.310G>C (p.Glu104Gln)
c.322G>C (p.Glu108Gln)
c.589G>C (p.Glu197Gln)
c.586G>C (p.Glu196Gln)
c.505G>C (p.Glu169Gln)
c.304G>C (p.Glu102Gln)
20g.32428200G>TCA408551540ASXL1c.325G>T (p.Glu109Ter)
n.268G>T
c.241G>T (p.Glu81Ter)
n.1129G>T
c.*164G>T (n.*164G>T)
n.29G>T
n.73G>T
c.295G>T (p.Glu99Ter)
c.310G>T (p.Glu104Ter)
c.322G>T (p.Glu108Ter)
c.589G>T (p.Glu197Ter)
c.586G>T (p.Glu196Ter)
c.505G>T (p.Glu169Ter)
c.304G>T (p.Glu102Ter)
20g.32428201A>CCA408551541ASXL1c.326A>C (p.Glu109Ala)
n.269A>C
c.242A>C (p.Glu81Ala)
n.1130A>C
c.*165A>C (n.*165A>C)
n.30A>C
n.74A>C
c.296A>C (p.Glu99Ala)
c.311A>C (p.Glu104Ala)
c.323A>C (p.Glu108Ala)
c.590A>C (p.Glu197Ala)
c.587A>C (p.Glu196Ala)
c.506A>C (p.Glu169Ala)
c.305A>C (p.Glu102Ala)
20g.32428201A>GCA408551543ASXL1c.326A>G (p.Glu109Gly)
n.269A>G
c.242A>G (p.Glu81Gly)
n.1130A>G
c.*165A>G (n.*165A>G)
n.30A>G
n.74A>G
c.296A>G (p.Glu99Gly)
c.311A>G (p.Glu104Gly)
c.323A>G (p.Glu108Gly)
c.590A>G (p.Glu197Gly)
c.587A>G (p.Glu196Gly)
c.506A>G (p.Glu169Gly)
c.305A>G (p.Glu102Gly)
20g.32428201A>TCA408551544ASXL1c.326A>T (p.Glu109Val)
n.269A>T
c.242A>T (p.Glu81Val)
n.1130A>T
c.*165A>T (n.*165A>T)
n.30A>T
n.74A>T
c.296A>T (p.Glu99Val)
c.311A>T (p.Glu104Val)
c.323A>T (p.Glu108Val)
c.590A>T (p.Glu197Val)
c.587A>T (p.Glu196Val)
c.506A>T (p.Glu169Val)
c.305A>T (p.Glu102Val)
20g.32428202G>ACA510200441ASXL1c.327G>A (p.Glu109=)
n.270G>A
c.243G>A (p.Glu81=)
n.1131G>A
c.*166G>A (n.*166G>A)
n.31G>A
n.75G>A
c.297G>A (p.Glu99=)
c.312G>A (p.Glu104=)
c.324G>A (p.Glu108=)
c.591G>A (p.Glu197=)
c.588G>A (p.Glu196=)
c.507G>A (p.Glu169=)
c.306G>A (p.Glu102=)
20g.32428202G>CCA408551546ASXL1c.327G>C (p.Glu109Asp)
n.270G>C
c.243G>C (p.Glu81Asp)
n.1131G>C
c.*166G>C (n.*166G>C)
n.31G>C
n.75G>C
c.297G>C (p.Glu99Asp)
c.312G>C (p.Glu104Asp)
c.324G>C (p.Glu108Asp)
c.591G>C (p.Glu197Asp)
c.588G>C (p.Glu196Asp)
c.507G>C (p.Glu169Asp)
c.306G>C (p.Glu102Asp)
20g.32428202G>TCA408551548ASXL1c.327G>T (p.Glu109Asp)
n.270G>T
c.243G>T (p.Glu81Asp)
n.1131G>T
c.*166G>T (n.*166G>T)
n.31G>T
n.75G>T
c.297G>T (p.Glu99Asp)
c.312G>T (p.Glu104Asp)
c.324G>T (p.Glu108Asp)
c.591G>T (p.Glu197Asp)
c.588G>T (p.Glu196Asp)
c.507G>T (p.Glu169Asp)
c.306G>T (p.Glu102Asp)
 COSMIC
20g.32428203A>CCA408551553ASXL1c.328A>C (p.Ser110Arg)
n.271A>C
c.244A>C (p.Ser82Arg)
n.1132A>C
c.*167A>C (n.*167A>C)
n.32A>C
n.76A>C
c.298A>C (p.Ser100Arg)
c.313A>C (p.Ser105Arg)
c.325A>C (p.Ser109Arg)
c.592A>C (p.Ser198Arg)
c.589A>C (p.Ser197Arg)
c.508A>C (p.Ser170Arg)
c.307A>C (p.Ser103Arg)
20g.32428203A>GCA408551549ASXL1c.328A>G (p.Ser110Gly)
n.271A>G
c.244A>G (p.Ser82Gly)
n.1132A>G
c.*167A>G (n.*167A>G)
n.32A>G
n.76A>G
c.298A>G (p.Ser100Gly)
c.313A>G (p.Ser105Gly)
c.325A>G (p.Ser109Gly)
c.592A>G (p.Ser198Gly)
c.589A>G (p.Ser197Gly)
c.508A>G (p.Ser170Gly)
c.307A>G (p.Ser103Gly)
20g.32428203A>TCA408551551ASXL1c.328A>T (p.Ser110Cys)
n.271A>T
c.244A>T (p.Ser82Cys)
n.1132A>T
c.*167A>T (n.*167A>T)
n.32A>T
n.76A>T
c.298A>T (p.Ser100Cys)
c.313A>T (p.Ser105Cys)
c.325A>T (p.Ser109Cys)
c.592A>T (p.Ser198Cys)
c.589A>T (p.Ser197Cys)
c.508A>T (p.Ser170Cys)
c.307A>T (p.Ser103Cys)
20g.32428204G>ACA408551555ASXL1c.329G>A (p.Ser110Asn)
n.272G>A
c.245G>A (p.Ser82Asn)
n.1133G>A
c.*168G>A (n.*168G>A)
n.33G>A
n.77G>A
c.299G>A (p.Ser100Asn)
c.314G>A (p.Ser105Asn)
c.326G>A (p.Ser109Asn)
c.593G>A (p.Ser198Asn)
c.590G>A (p.Ser197Asn)
c.509G>A (p.Ser170Asn)
c.308G>A (p.Ser103Asn)
 dbSNP gnomAD v2 gnomAD v4
20g.32428204G>CCA408551556ASXL1c.329G>C (p.Ser110Thr)
n.272G>C
c.245G>C (p.Ser82Thr)
n.1133G>C
c.*168G>C (n.*168G>C)
n.33G>C
n.77G>C
c.299G>C (p.Ser100Thr)
c.314G>C (p.Ser105Thr)
c.326G>C (p.Ser109Thr)
c.593G>C (p.Ser198Thr)
c.590G>C (p.Ser197Thr)
c.509G>C (p.Ser170Thr)
c.308G>C (p.Ser103Thr)
20g.32428204G=CA2360289954ASXL1c.329G= (p.Ser110=)
n.272G=
c.245G= (p.Ser82=)
n.1133G=
c.*168G= (n.*168G=)
n.33G=
n.77G=
c.299G= (p.Ser100=)
c.314G= (p.Ser105=)
c.326G= (p.Ser109=)
c.593G= (p.Ser198=)
c.590G= (p.Ser197=)
c.509G= (p.Ser170=)
c.308G= (p.Ser103=)
20g.32428204G>TCA408551557ASXL1c.329G>T (p.Ser110Ile)
n.272G>T
c.245G>T (p.Ser82Ile)
n.1133G>T
c.*168G>T (n.*168G>T)
n.33G>T
n.77G>T
c.299G>T (p.Ser100Ile)
c.314G>T (p.Ser105Ile)
c.326G>T (p.Ser109Ile)
c.593G>T (p.Ser198Ile)
c.590G>T (p.Ser197Ile)
c.509G>T (p.Ser170Ile)
c.308G>T (p.Ser103Ile)
20g.32428205C>ACA408551559ASXL1c.330C>A (p.Ser110Arg)
n.273C>A
c.246C>A (p.Ser82Arg)
n.1134C>A
c.*169C>A (n.*169C>A)
n.34C>A
n.78C>A
c.300C>A (p.Ser100Arg)
c.315C>A (p.Ser105Arg)
c.327C>A (p.Ser109Arg)
c.594C>A (p.Ser198Arg)
c.591C>A (p.Ser197Arg)
c.510C>A (p.Ser170Arg)
c.309C>A (p.Ser103Arg)
20g.32428205C>GCA408551561ASXL1c.330C>G (p.Ser110Arg)
n.273C>G
c.246C>G (p.Ser82Arg)
n.1134C>G
c.*169C>G (n.*169C>G)
n.34C>G
n.78C>G
c.300C>G (p.Ser100Arg)
c.315C>G (p.Ser105Arg)
c.327C>G (p.Ser109Arg)
c.594C>G (p.Ser198Arg)
c.591C>G (p.Ser197Arg)
c.510C>G (p.Ser170Arg)
c.309C>G (p.Ser103Arg)
20g.32428205C>TCA510200442ASXL1c.330C>T (p.Ser110=)
n.273C>T
c.246C>T (p.Ser82=)
n.1134C>T
c.*169C>T (n.*169C>T)
n.34C>T
n.78C>T
c.300C>T (p.Ser100=)
c.315C>T (p.Ser105=)
c.327C>T (p.Ser109=)
c.594C>T (p.Ser198=)
c.591C>T (p.Ser197=)
c.510C>T (p.Ser170=)
c.309C>T (p.Ser103=)
20g.32428206T>ACA408551562ASXL1c.331T>A (p.Cys111Ser)
n.274T>A
c.247T>A (p.Cys83Ser)
n.1135T>A
c.*170T>A (n.*170T>A)
n.35T>A
n.79T>A
c.301T>A (p.Cys101Ser)
c.316T>A (p.Cys106Ser)
c.328T>A (p.Cys110Ser)
c.595T>A (p.Cys199Ser)
c.592T>A (p.Cys198Ser)
c.511T>A (p.Cys171Ser)
c.310T>A (p.Cys104Ser)
20g.32428206T>CCA408551564ASXL1c.331T>C (p.Cys111Arg)
n.274T>C
c.247T>C (p.Cys83Arg)
n.1135T>C
c.*170T>C (n.*170T>C)
n.35T>C
n.79T>C
c.301T>C (p.Cys101Arg)
c.316T>C (p.Cys106Arg)
c.328T>C (p.Cys110Arg)
c.595T>C (p.Cys199Arg)
c.592T>C (p.Cys198Arg)
c.511T>C (p.Cys171Arg)
c.310T>C (p.Cys104Arg)
20g.32428206T>GCA408551565ASXL1c.331T>G (p.Cys111Gly)
n.274T>G
c.247T>G (p.Cys83Gly)
n.1135T>G
c.*170T>G (n.*170T>G)
n.35T>G
n.79T>G
c.301T>G (p.Cys101Gly)
c.316T>G (p.Cys106Gly)
c.328T>G (p.Cys110Gly)
c.595T>G (p.Cys199Gly)
c.592T>G (p.Cys198Gly)
c.511T>G (p.Cys171Gly)
c.310T>G (p.Cys104Gly)
 gnomAD v4
20g.32428207G>ACA313924095ASXL1c.332G>A (p.Cys111Tyr)
n.275G>A
c.248G>A (p.Cys83Tyr)
n.1136G>A
c.*171G>A (n.*171G>A)
n.36G>A
n.80G>A
c.302G>A (p.Cys101Tyr)
c.317G>A (p.Cys106Tyr)
c.329G>A (p.Cys110Tyr)
c.596G>A (p.Cys199Tyr)
c.593G>A (p.Cys198Tyr)
c.512G>A (p.Cys171Tyr)
c.311G>A (p.Cys104Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.32428207G>CCA408551567ASXL1c.332G>C (p.Cys111Ser)
n.275G>C
c.248G>C (p.Cys83Ser)
n.1136G>C
c.*171G>C (n.*171G>C)
n.36G>C
n.80G>C
c.302G>C (p.Cys101Ser)
c.317G>C (p.Cys106Ser)
c.329G>C (p.Cys110Ser)
c.596G>C (p.Cys199Ser)
c.593G>C (p.Cys198Ser)
c.512G>C (p.Cys171Ser)
c.311G>C (p.Cys104Ser)
20g.32428207G=CA2360289955ASXL1c.332G= (p.Cys111=)
n.275G=
c.248G= (p.Cys83=)
n.1136G=
c.*171G= (n.*171G=)
n.36G=
n.80G=
c.302G= (p.Cys101=)
c.317G= (p.Cys106=)
c.329G= (p.Cys110=)
c.596G= (p.Cys199=)
c.593G= (p.Cys198=)
c.512G= (p.Cys171=)
c.311G= (p.Cys104=)
20g.32428207G>TCA408551568ASXL1c.332G>T (p.Cys111Phe)
n.275G>T
c.248G>T (p.Cys83Phe)
n.1136G>T
c.*171G>T (n.*171G>T)
n.36G>T
n.80G>T
c.302G>T (p.Cys101Phe)
c.317G>T (p.Cys106Phe)
c.329G>T (p.Cys110Phe)
c.596G>T (p.Cys199Phe)
c.593G>T (p.Cys198Phe)
c.512G>T (p.Cys171Phe)
c.311G>T (p.Cys104Phe)
20g.32428208T>ACA408551572ASXL1c.333T>A (p.Cys111Ter)
n.276T>A
c.249T>A (p.Cys83Ter)
n.1137T>A
c.*172T>A (n.*172T>A)
n.37T>A
n.81T>A
c.303T>A (p.Cys101Ter)
c.318T>A (p.Cys106Ter)
c.330T>A (p.Cys110Ter)
c.597T>A (p.Cys199Ter)
c.594T>A (p.Cys198Ter)
c.513T>A (p.Cys171Ter)
c.312T>A (p.Cys104Ter)
20g.32428208T>CCA510200443ASXL1c.333T>C (p.Cys111=)
n.276T>C
c.249T>C (p.Cys83=)
n.1137T>C
c.*172T>C (n.*172T>C)
n.37T>C
n.81T>C
c.303T>C (p.Cys101=)
c.318T>C (p.Cys106=)
c.330T>C (p.Cys110=)
c.597T>C (p.Cys199=)
c.594T>C (p.Cys198=)
c.513T>C (p.Cys171=)
c.312T>C (p.Cys104=)
20g.32428208T>GCA408551570ASXL1c.333T>G (p.Cys111Trp)
n.276T>G
c.249T>G (p.Cys83Trp)
n.1137T>G
c.*172T>G (n.*172T>G)
n.37T>G
n.81T>G
c.303T>G (p.Cys101Trp)
c.318T>G (p.Cys106Trp)
c.330T>G (p.Cys110Trp)
c.597T>G (p.Cys199Trp)
c.594T>G (p.Cys198Trp)
c.513T>G (p.Cys171Trp)
c.312T>G (p.Cys104Trp)
20g.32428209G>ACA408551574ASXL1c.334G>A (p.Gly112Arg)
n.277G>A
c.250G>A (p.Gly84Arg)
n.1138G>A
c.*173G>A (n.*173G>A)
n.38G>A
n.82G>A
c.304G>A (p.Gly102Arg)
c.319G>A (p.Gly107Arg)
c.331G>A (p.Gly111Arg)
c.598G>A (p.Gly200Arg)
c.595G>A (p.Gly199Arg)
c.514G>A (p.Gly172Arg)
c.313G>A (p.Gly105Arg)
20g.32428209G>CCA408551575ASXL1c.334G>C (p.Gly112Arg)
n.277G>C
c.250G>C (p.Gly84Arg)
n.1138G>C
c.*173G>C (n.*173G>C)
n.38G>C
n.82G>C
c.304G>C (p.Gly102Arg)
c.319G>C (p.Gly107Arg)
c.331G>C (p.Gly111Arg)
c.598G>C (p.Gly200Arg)
c.595G>C (p.Gly199Arg)
c.514G>C (p.Gly172Arg)
c.313G>C (p.Gly105Arg)
20g.32428209G>TCA408551576ASXL1c.334G>T (p.Gly112Trp)
n.277G>T
c.250G>T (p.Gly84Trp)
n.1138G>T
c.*173G>T (n.*173G>T)
n.38G>T
n.82G>T
c.304G>T (p.Gly102Trp)
c.319G>T (p.Gly107Trp)
c.331G>T (p.Gly111Trp)
c.598G>T (p.Gly200Trp)
c.595G>T (p.Gly199Trp)
c.514G>T (p.Gly172Trp)
c.313G>T (p.Gly105Trp)
 gnomAD v4 COSMIC COSMIC
20g.32428210G>ACA408551580ASXL1c.335G>A (p.Gly112Glu)
n.278G>A
c.251G>A (p.Gly84Glu)
n.1139G>A
c.*174G>A (n.*174G>A)
n.39G>A
n.83G>A
c.305G>A (p.Gly102Glu)
c.320G>A (p.Gly107Glu)
c.332G>A (p.Gly111Glu)
c.599G>A (p.Gly200Glu)
c.596G>A (p.Gly199Glu)
c.515G>A (p.Gly172Glu)
c.314G>A (p.Gly105Glu)
 dbSNP gnomAD v2 gnomAD v4
20g.32428210G>CCA408551581ASXL1c.335G>C (p.Gly112Ala)
n.278G>C
c.251G>C (p.Gly84Ala)
n.1139G>C
c.*174G>C (n.*174G>C)
n.39G>C
n.83G>C
c.305G>C (p.Gly102Ala)
c.320G>C (p.Gly107Ala)
c.332G>C (p.Gly111Ala)
c.599G>C (p.Gly200Ala)
c.596G>C (p.Gly199Ala)
c.515G>C (p.Gly172Ala)
c.314G>C (p.Gly105Ala)
 dbSNP gnomAD v3 gnomAD v4
20g.32428210G=CA2360289956ASXL1c.335G= (p.Gly112=)
n.278G=
c.251G= (p.Gly84=)
n.1139G=
c.*174G= (n.*174G=)
n.39G=
n.83G=
c.305G= (p.Gly102=)
c.320G= (p.Gly107=)
c.332G= (p.Gly111=)
c.599G= (p.Gly200=)
c.596G= (p.Gly199=)
c.515G= (p.Gly172=)
c.314G= (p.Gly105=)
20g.32428210G>TCA408551583ASXL1c.335G>T (p.Gly112Val)
n.278G>T
c.251G>T (p.Gly84Val)
n.1139G>T
c.*174G>T (n.*174G>T)
n.39G>T
n.83G>T
c.305G>T (p.Gly102Val)
c.320G>T (p.Gly107Val)
c.332G>T (p.Gly111Val)
c.599G>T (p.Gly200Val)
c.596G>T (p.Gly199Val)
c.515G>T (p.Gly172Val)
c.314G>T (p.Gly105Val)
20g.32428211G>ACA510200444ASXL1c.336G>A (p.Gly112=)
n.279G>A
c.252G>A (p.Gly84=)
n.1140G>A
c.*175G>A (n.*175G>A)
n.40G>A
n.84G>A
c.306G>A (p.Gly102=)
c.321G>A (p.Gly107=)
c.333G>A (p.Gly111=)
c.600G>A (p.Gly200=)
c.597G>A (p.Gly199=)
c.516G>A (p.Gly172=)
c.315G>A (p.Gly105=)
 gnomAD v4
20g.32428211G>CCA510200445ASXL1c.336G>C (p.Gly112=)
n.279G>C
c.252G>C (p.Gly84=)
n.1140G>C
c.*175G>C (n.*175G>C)
n.40G>C
n.84G>C
c.306G>C (p.Gly102=)
c.321G>C (p.Gly107=)
c.333G>C (p.Gly111=)
c.600G>C (p.Gly200=)
c.597G>C (p.Gly199=)
c.516G>C (p.Gly172=)
c.315G>C (p.Gly105=)
20g.32428211G>TCA510200446ASXL1c.336G>T (p.Gly112=)
n.279G>T
c.252G>T (p.Gly84=)
n.1140G>T
c.*175G>T (n.*175G>T)
n.40G>T
n.84G>T
c.306G>T (p.Gly102=)
c.321G>T (p.Gly107=)
c.333G>T (p.Gly111=)
c.600G>T (p.Gly200=)
c.597G>T (p.Gly199=)
c.516G>T (p.Gly172=)
c.315G>T (p.Gly105=)
20g.32428212T>ACA408551584ASXL1c.337T>A (p.Ser113Thr)
n.280T>A
c.253T>A (p.Ser85Thr)
n.1141T>A
c.*176T>A (n.*176T>A)
n.41T>A
n.85T>A
c.307T>A (p.Ser103Thr)
c.322T>A (p.Ser108Thr)
c.334T>A (p.Ser112Thr)
c.601T>A (p.Ser201Thr)
c.598T>A (p.Ser200Thr)
c.517T>A (p.Ser173Thr)
c.316T>A (p.Ser106Thr)
 dbSNP
20g.32428212T>CCA408551585ASXL1c.337T>C (p.Ser113Pro)
n.280T>C
c.253T>C (p.Ser85Pro)
n.1141T>C
c.*176T>C (n.*176T>C)
n.41T>C
n.85T>C
c.307T>C (p.Ser103Pro)
c.322T>C (p.Ser108Pro)
c.334T>C (p.Ser112Pro)
c.601T>C (p.Ser201Pro)
c.598T>C (p.Ser200Pro)
c.517T>C (p.Ser173Pro)
c.316T>C (p.Ser106Pro)
20g.32428212T>GCA408551587ASXL1c.337T>G (p.Ser113Ala)
n.280T>G
c.253T>G (p.Ser85Ala)
n.1141T>G
c.*176T>G (n.*176T>G)
n.41T>G
n.85T>G
c.307T>G (p.Ser103Ala)
c.322T>G (p.Ser108Ala)
c.334T>G (p.Ser112Ala)
c.601T>G (p.Ser201Ala)
c.598T>G (p.Ser200Ala)
c.517T>G (p.Ser173Ala)
c.316T>G (p.Ser106Ala)
 dbSNP
20g.32428212T=CA2360289957ASXL1c.337T= (p.Ser113=)
n.280T=
c.253T= (p.Ser85=)
n.1141T=
c.*176T= (n.*176T=)
n.41T=
n.85T=
c.307T= (p.Ser103=)
c.322T= (p.Ser108=)
c.334T= (p.Ser112=)
c.601T= (p.Ser201=)
c.598T= (p.Ser200=)
c.517T= (p.Ser173=)
c.316T= (p.Ser106=)
20g.32428213C>ACA408551589ASXL1c.338C>A (p.Ser113Tyr)
n.281C>A
c.254C>A (p.Ser85Tyr)
n.1142C>A
c.*177C>A (n.*177C>A)
n.42C>A
n.86C>A
c.308C>A (p.Ser103Tyr)
c.323C>A (p.Ser108Tyr)
c.335C>A (p.Ser112Tyr)
c.602C>A (p.Ser201Tyr)
c.599C>A (p.Ser200Tyr)
c.518C>A (p.Ser173Tyr)
c.317C>A (p.Ser106Tyr)
20g.32428213C=CA2360289958ASXL1c.338C= (p.Ser113=)
n.281C=
c.254C= (p.Ser85=)
n.1142C=
c.*177C= (n.*177C=)
n.42C=
n.86C=
c.308C= (p.Ser103=)
c.323C= (p.Ser108=)
c.335C= (p.Ser112=)
c.602C= (p.Ser201=)
c.599C= (p.Ser200=)
c.518C= (p.Ser173=)
c.317C= (p.Ser106=)
20g.32428213C>GCA408551591ASXL1c.338C>G (p.Ser113Cys)
n.281C>G
c.254C>G (p.Ser85Cys)
n.1142C>G
c.*177C>G (n.*177C>G)
n.42C>G
n.86C>G
c.308C>G (p.Ser103Cys)
c.323C>G (p.Ser108Cys)
c.335C>G (p.Ser112Cys)
c.602C>G (p.Ser201Cys)
c.599C>G (p.Ser200Cys)
c.518C>G (p.Ser173Cys)
c.317C>G (p.Ser106Cys)
20g.32428213C>TCA408551592ASXL1c.338C>T (p.Ser113Phe)
n.281C>T
c.254C>T (p.Ser85Phe)
n.1142C>T
c.*177C>T (n.*177C>T)
n.42C>T
n.86C>T
c.308C>T (p.Ser103Phe)
c.323C>T (p.Ser108Phe)
c.335C>T (p.Ser112Phe)
c.602C>T (p.Ser201Phe)
c.599C>T (p.Ser200Phe)
c.518C>T (p.Ser173Phe)
c.317C>T (p.Ser106Phe)
 dbSNP gnomAD v2 gnomAD v4
20g.32428214T>ACA510200447ASXL1c.339T>A (p.Ser113=)
n.282T>A
c.255T>A (p.Ser85=)
n.1143T>A
c.*178T>A (n.*178T>A)
n.43T>A
n.87T>A
c.309T>A (p.Ser103=)
c.324T>A (p.Ser108=)
c.336T>A (p.Ser112=)
c.603T>A (p.Ser201=)
c.600T>A (p.Ser200=)
c.519T>A (p.Ser173=)
c.318T>A (p.Ser106=)
20g.32428214T>CCA510200448ASXL1c.339T>C (p.Ser113=)
n.282T>C
c.255T>C (p.Ser85=)
n.1143T>C
c.*178T>C (n.*178T>C)
n.43T>C
n.87T>C
c.309T>C (p.Ser103=)
c.324T>C (p.Ser108=)
c.336T>C (p.Ser112=)
c.603T>C (p.Ser201=)
c.600T>C (p.Ser200=)
c.519T>C (p.Ser173=)
c.318T>C (p.Ser106=)
 dbSNP
20g.32428214T>GCA510200449ASXL1c.339T>G (p.Ser113=)
n.282T>G
c.255T>G (p.Ser85=)
n.1143T>G
c.*178T>G (n.*178T>G)
n.43T>G
n.87T>G
c.309T>G (p.Ser103=)
c.324T>G (p.Ser108=)
c.336T>G (p.Ser112=)
c.603T>G (p.Ser201=)
c.600T>G (p.Ser200=)
c.519T>G (p.Ser173=)
c.318T>G (p.Ser106=)
20g.32428214T=CA2360289959ASXL1c.339T= (p.Ser113=)
n.282T=
c.255T= (p.Ser85=)
n.1143T=
c.*178T= (n.*178T=)
n.43T=
n.87T=
c.309T= (p.Ser103=)
c.324T= (p.Ser108=)
c.336T= (p.Ser112=)
c.603T= (p.Ser201=)
c.600T= (p.Ser200=)
c.519T= (p.Ser173=)
c.318T= (p.Ser106=)
20g.32428215A>CCA408551596ASXL1c.340A>C (p.Asn114His)
n.283A>C
c.256A>C (p.Asn86His)
n.1144A>C
c.*179A>C (n.*179A>C)
n.44A>C
n.88A>C
c.310A>C (p.Asn104His)
c.325A>C (p.Asn109His)
c.337A>C (p.Asn113His)
c.604A>C (p.Asn202His)
c.601A>C (p.Asn201His)
c.520A>C (p.Asn174His)
c.319A>C (p.Asn107His)
20g.32428215A>GCA408551598ASXL1c.340A>G (p.Asn114Asp)
n.283A>G
c.256A>G (p.Asn86Asp)
n.1144A>G
c.*179A>G (n.*179A>G)
n.44A>G
n.88A>G
c.310A>G (p.Asn104Asp)
c.325A>G (p.Asn109Asp)
c.337A>G (p.Asn113Asp)
c.604A>G (p.Asn202Asp)
c.601A>G (p.Asn201Asp)
c.520A>G (p.Asn174Asp)
c.319A>G (p.Asn107Asp)
20g.32428215A>TCA408551594ASXL1c.340A>T (p.Asn114Tyr)
n.283A>T
c.256A>T (p.Asn86Tyr)
n.1144A>T
c.*179A>T (n.*179A>T)
n.44A>T
n.88A>T
c.310A>T (p.Asn104Tyr)
c.325A>T (p.Asn109Tyr)
c.337A>T (p.Asn113Tyr)
c.604A>T (p.Asn202Tyr)
c.601A>T (p.Asn201Tyr)
c.520A>T (p.Asn174Tyr)
c.319A>T (p.Asn107Tyr)
20g.32428216A>CCA408551600ASXL1c.341A>C (p.Asn114Thr)
n.284A>C
c.257A>C (p.Asn86Thr)
n.1145A>C
c.*180A>C (n.*180A>C)
n.45A>C
n.89A>C
c.311A>C (p.Asn104Thr)
c.326A>C (p.Asn109Thr)
c.338A>C (p.Asn113Thr)
c.605A>C (p.Asn202Thr)
c.602A>C (p.Asn201Thr)
c.521A>C (p.Asn174Thr)
c.320A>C (p.Asn107Thr)
20g.32428216A>GCA408551601ASXL1c.341A>G (p.Asn114Ser)
n.284A>G
c.257A>G (p.Asn86Ser)
n.1145A>G
c.*180A>G (n.*180A>G)
n.45A>G
n.89A>G
c.311A>G (p.Asn104Ser)
c.326A>G (p.Asn109Ser)
c.338A>G (p.Asn113Ser)
c.605A>G (p.Asn202Ser)
c.602A>G (p.Asn201Ser)
c.521A>G (p.Asn174Ser)
c.320A>G (p.Asn107Ser)
20g.32428216A>TCA408551603ASXL1c.341A>T (p.Asn114Ile)
n.284A>T
c.257A>T (p.Asn86Ile)
n.1145A>T
c.*180A>T (n.*180A>T)
n.45A>T
n.89A>T
c.311A>T (p.Asn104Ile)
c.326A>T (p.Asn109Ile)
c.338A>T (p.Asn113Ile)
c.605A>T (p.Asn202Ile)
c.602A>T (p.Asn201Ile)
c.521A>T (p.Asn174Ile)
c.320A>T (p.Asn107Ile)
20g.32428217T>ACA408551604ASXL1c.342T>A (p.Asn114Lys)
n.285T>A
c.258T>A (p.Asn86Lys)
n.1146T>A
c.*181T>A (n.*181T>A)
n.46T>A
n.90T>A
c.312T>A (p.Asn104Lys)
c.327T>A (p.Asn109Lys)
c.339T>A (p.Asn113Lys)
c.606T>A (p.Asn202Lys)
c.603T>A (p.Asn201Lys)
c.522T>A (p.Asn174Lys)
c.321T>A (p.Asn107Lys)
20g.32428217T>CCA510200450ASXL1c.342T>C (p.Asn114=)
n.285T>C
c.258T>C (p.Asn86=)
n.1146T>C
c.*181T>C (n.*181T>C)
n.46T>C
n.90T>C
c.312T>C (p.Asn104=)
c.327T>C (p.Asn109=)
c.339T>C (p.Asn113=)
c.606T>C (p.Asn202=)
c.603T>C (p.Asn201=)
c.522T>C (p.Asn174=)
c.321T>C (p.Asn107=)
20g.32428217T>GCA408551605ASXL1c.342T>G (p.Asn114Lys)
n.285T>G
c.258T>G (p.Asn86Lys)
n.1146T>G
c.*181T>G (n.*181T>G)
n.46T>G
n.90T>G
c.312T>G (p.Asn104Lys)
c.327T>G (p.Asn109Lys)
c.339T>G (p.Asn113Lys)
c.606T>G (p.Asn202Lys)
c.603T>G (p.Asn201Lys)
c.522T>G (p.Asn174Lys)
c.321T>G (p.Asn107Lys)
20g.32428218G>ACA408551611ASXL1c.343G>A (p.Glu115Lys)
n.286G>A
c.259G>A (p.Glu87Lys)
n.1147G>A
c.*182G>A (n.*182G>A)
n.47G>A
n.91G>A
c.313G>A (p.Glu105Lys)
c.328G>A (p.Glu110Lys)
c.340G>A (p.Glu114Lys)
c.607G>A (p.Glu203Lys)
c.604G>A (p.Glu202Lys)
c.523G>A (p.Glu175Lys)
c.322G>A (p.Glu108Lys)
 dbSNP gnomAD v2 gnomAD v4
20g.32428218G>CCA408551607ASXL1c.343G>C (p.Glu115Gln)
n.286G>C
c.259G>C (p.Glu87Gln)
n.1147G>C
c.*182G>C (n.*182G>C)
n.47G>C
n.91G>C
c.313G>C (p.Glu105Gln)
c.328G>C (p.Glu110Gln)
c.340G>C (p.Glu114Gln)
c.607G>C (p.Glu203Gln)
c.604G>C (p.Glu202Gln)
c.523G>C (p.Glu175Gln)
c.322G>C (p.Glu108Gln)
 dbSNP
20g.32428218G=CA2360289960ASXL1c.343G= (p.Glu115=)
n.286G=
c.259G= (p.Glu87=)
n.1147G=
c.*182G= (n.*182G=)
n.47G=
n.91G=
c.313G= (p.Glu105=)
c.328G= (p.Glu110=)
c.340G= (p.Glu114=)
c.607G= (p.Glu203=)
c.604G= (p.Glu202=)
c.523G= (p.Glu175=)
c.322G= (p.Glu108=)
20g.32428218G>TCA408551609ASXL1c.343G>T (p.Glu115Ter)
n.286G>T
c.259G>T (p.Glu87Ter)
n.1147G>T
c.*182G>T (n.*182G>T)
n.47G>T
n.91G>T
c.313G>T (p.Glu105Ter)
c.328G>T (p.Glu110Ter)
c.340G>T (p.Glu114Ter)
c.607G>T (p.Glu203Ter)
c.604G>T (p.Glu202Ter)
c.523G>T (p.Glu175Ter)
c.322G>T (p.Glu108Ter)
20g.32428219A>CCA408551612ASXL1c.344A>C (p.Glu115Ala)
n.287A>C
c.260A>C (p.Glu87Ala)
n.1148A>C
c.*183A>C (n.*183A>C)
n.48A>C
n.92A>C
c.314A>C (p.Glu105Ala)
c.329A>C (p.Glu110Ala)
c.341A>C (p.Glu114Ala)
c.608A>C (p.Glu203Ala)
c.605A>C (p.Glu202Ala)
c.524A>C (p.Glu175Ala)
c.323A>C (p.Glu108Ala)
20g.32428219A>GCA408551614ASXL1c.344A>G (p.Glu115Gly)
n.287A>G
c.260A>G (p.Glu87Gly)
n.1148A>G
c.*183A>G (n.*183A>G)
n.48A>G
n.92A>G
c.314A>G (p.Glu105Gly)
c.329A>G (p.Glu110Gly)
c.341A>G (p.Glu114Gly)
c.608A>G (p.Glu203Gly)
c.605A>G (p.Glu202Gly)
c.524A>G (p.Glu175Gly)
c.323A>G (p.Glu108Gly)
20g.32428219A>TCA408551616ASXL1c.344A>T (p.Glu115Val)
n.287A>T
c.260A>T (p.Glu87Val)
n.1148A>T
c.*183A>T (n.*183A>T)
n.48A>T
n.92A>T
c.314A>T (p.Glu105Val)
c.329A>T (p.Glu110Val)
c.341A>T (p.Glu114Val)
c.608A>T (p.Glu203Val)
c.605A>T (p.Glu202Val)
c.524A>T (p.Glu175Val)
c.323A>T (p.Glu108Val)
20g.32428220A>CCA408551618ASXL1c.345A>C (p.Glu115Asp)
n.288A>C
c.261A>C (p.Glu87Asp)
n.1149A>C
c.*184A>C (n.*184A>C)
n.49A>C
n.93A>C
c.315A>C (p.Glu105Asp)
c.330A>C (p.Glu110Asp)
c.342A>C (p.Glu114Asp)
c.609A>C (p.Glu203Asp)
c.606A>C (p.Glu202Asp)
c.525A>C (p.Glu175Asp)
c.324A>C (p.Glu108Asp)
20g.32428220A>GCA510200451ASXL1c.345A>G (p.Glu115=)
n.288A>G
c.261A>G (p.Glu87=)
n.1149A>G
c.*184A>G (n.*184A>G)
n.49A>G
n.93A>G
c.315A>G (p.Glu105=)
c.330A>G (p.Glu110=)
c.342A>G (p.Glu114=)
c.609A>G (p.Glu203=)
c.606A>G (p.Glu202=)
c.525A>G (p.Glu175=)
c.324A>G (p.Glu108=)
20g.32428220A>TCA408551620ASXL1c.345A>T (p.Glu115Asp)
n.288A>T
c.261A>T (p.Glu87Asp)
n.1149A>T
c.*184A>T (n.*184A>T)
n.49A>T
n.93A>T
c.315A>T (p.Glu105Asp)
c.330A>T (p.Glu110Asp)
c.342A>T (p.Glu114Asp)
c.609A>T (p.Glu203Asp)
c.606A>T (p.Glu202Asp)
c.525A>T (p.Glu175Asp)
c.324A>T (p.Glu108Asp)
20g.32428221G>ACA408551625ASXL1c.346G>A (p.Ala116Thr)
n.289G>A
c.262G>A (p.Ala88Thr)
n.1150G>A
c.*185G>A (n.*185G>A)
n.50G>A
n.94G>A
c.316G>A (p.Ala106Thr)
c.331G>A (p.Ala111Thr)
c.343G>A (p.Ala115Thr)
c.610G>A (p.Ala204Thr)
c.607G>A (p.Ala203Thr)
c.526G>A (p.Ala176Thr)
c.325G>A (p.Ala109Thr)
 dbSNP gnomAD v2 gnomAD v4
20g.32428221G>CCA408551623ASXL1c.346G>C (p.Ala116Pro)
n.289G>C
c.262G>C (p.Ala88Pro)
n.1150G>C
c.*185G>C (n.*185G>C)
n.50G>C
n.94G>C
c.316G>C (p.Ala106Pro)
c.331G>C (p.Ala111Pro)
c.343G>C (p.Ala115Pro)
c.610G>C (p.Ala204Pro)
c.607G>C (p.Ala203Pro)
c.526G>C (p.Ala176Pro)
c.325G>C (p.Ala109Pro)
20g.32428221G=CA2360289961ASXL1c.346G= (p.Ala116=)
n.289G=
c.262G= (p.Ala88=)
n.1150G=
c.*185G= (n.*185G=)
n.50G=
n.94G=
c.316G= (p.Ala106=)
c.331G= (p.Ala111=)
c.343G= (p.Ala115=)
c.610G= (p.Ala204=)
c.607G= (p.Ala203=)
c.526G= (p.Ala176=)
c.325G= (p.Ala109=)
20g.32428221G>TCA408551622ASXL1c.346G>T (p.Ala116Ser)
n.289G>T
c.262G>T (p.Ala88Ser)
n.1150G>T
c.*185G>T (n.*185G>T)
n.50G>T
n.94G>T
c.316G>T (p.Ala106Ser)
c.331G>T (p.Ala111Ser)
c.343G>T (p.Ala115Ser)
c.610G>T (p.Ala204Ser)
c.607G>T (p.Ala203Ser)
c.526G>T (p.Ala176Ser)
c.325G>T (p.Ala109Ser)
20g.32428222C>ACA408551627ASXL1c.347C>A (p.Ala116Asp)
n.290C>A
c.263C>A (p.Ala88Asp)
n.1151C>A
c.*186C>A (n.*186C>A)
n.51C>A
n.95C>A
c.317C>A (p.Ala106Asp)
c.332C>A (p.Ala111Asp)
c.344C>A (p.Ala115Asp)
c.611C>A (p.Ala204Asp)
c.608C>A (p.Ala203Asp)
c.527C>A (p.Ala176Asp)
c.326C>A (p.Ala109Asp)
 ClinVar
20g.32428222C>GCA408551630ASXL1c.347C>G (p.Ala116Gly)
n.290C>G
c.263C>G (p.Ala88Gly)
n.1151C>G
c.*186C>G (n.*186C>G)
n.51C>G
n.95C>G
c.317C>G (p.Ala106Gly)
c.332C>G (p.Ala111Gly)
c.344C>G (p.Ala115Gly)
c.611C>G (p.Ala204Gly)
c.608C>G (p.Ala203Gly)
c.527C>G (p.Ala176Gly)
c.326C>G (p.Ala109Gly)
 dbSNP
20g.32428222C>TCA408551629ASXL1c.347C>T (p.Ala116Val)
n.290C>T
c.263C>T (p.Ala88Val)
n.1151C>T
c.*186C>T (n.*186C>T)
n.51C>T
n.95C>T
c.317C>T (p.Ala106Val)
c.332C>T (p.Ala111Val)
c.344C>T (p.Ala115Val)
c.611C>T (p.Ala204Val)
c.608C>T (p.Ala203Val)
c.527C>T (p.Ala176Val)
c.326C>T (p.Ala109Val)
 dbSNP gnomAD v4
20g.32428222_32428223insTGTGGGTCA2652398642ASXL1c.347_348insTGTGGGT (p.Ser117ValfsTer8)
n.290_291insTGTGGGT
c.263_264insTGTGGGT (p.Ser89ValfsTer8)
n.1151_1152insTGTGGGT
c.*186_*187insTGTGGGT (n.*186_*187insTGTGGGT)
n.51_52insTGTGGGT
n.95_96insTGTGGGT
c.317_318insTGTGGGT (p.Ser107ValfsTer8)
c.332_333insTGTGGGT (p.Ser112ValfsTer8)
c.344_345insTGTGGGT (p.Ser116ValfsTer8)
c.611_612insTGTGGGT (p.Ser205ValfsTer8)
c.608_609insTGTGGGT (p.Ser204ValfsTer8)
c.527_528insTGTGGGT (p.Ser177ValfsTer8)
c.326_327insTGTGGGT (p.Ser110ValfsTer8)
 gnomAD v4
20g.32428223C>ACA510200452ASXL1c.348C>A (p.Ala116=)
n.291C>A
c.264C>A (p.Ala88=)
n.1152C>A
c.*187C>A (n.*187C>A)
n.52C>A
n.96C>A
c.318C>A (p.Ala106=)
c.333C>A (p.Ala111=)
c.345C>A (p.Ala115=)
c.612C>A (p.Ala204=)
c.609C>A (p.Ala203=)
c.528C>A (p.Ala176=)
c.327C>A (p.Ala109=)
20g.32428223C>GCA510200453ASXL1c.348C>G (p.Ala116=)
n.291C>G
c.264C>G (p.Ala88=)
n.1152C>G
c.*187C>G (n.*187C>G)
n.52C>G
n.96C>G
c.318C>G (p.Ala106=)
c.333C>G (p.Ala111=)
c.345C>G (p.Ala115=)
c.612C>G (p.Ala204=)
c.609C>G (p.Ala203=)
c.528C>G (p.Ala176=)
c.327C>G (p.Ala109=)
20g.32428223C>TCA510200454ASXL1c.348C>T (p.Ala116=)
n.291C>T
c.264C>T (p.Ala88=)
n.1152C>T
c.*187C>T (n.*187C>T)
n.52C>T
n.96C>T
c.318C>T (p.Ala106=)
c.333C>T (p.Ala111=)
c.345C>T (p.Ala115=)
c.612C>T (p.Ala204=)
c.609C>T (p.Ala203=)
c.528C>T (p.Ala176=)
c.327C>T (p.Ala109=)
20g.32428224A=CA2360289962ASXL1c.349A= (p.Ser117=)
n.292A=
c.265A= (p.Ser89=)
n.1153A=
c.*188A= (n.*188A=)
n.53A=
n.97A=
c.319A= (p.Ser107=)
c.334A= (p.Ser112=)
c.346A= (p.Ser116=)
c.613A= (p.Ser205=)
c.610A= (p.Ser204=)
c.529A= (p.Ser177=)
c.328A= (p.Ser110=)
20g.32428224A>CCA408551632ASXL1c.349A>C (p.Ser117Arg)
n.292A>C
c.265A>C (p.Ser89Arg)
n.1153A>C
c.*188A>C (n.*188A>C)
n.53A>C
n.97A>C
c.319A>C (p.Ser107Arg)
c.334A>C (p.Ser112Arg)
c.346A>C (p.Ser116Arg)
c.613A>C (p.Ser205Arg)
c.610A>C (p.Ser204Arg)
c.529A>C (p.Ser177Arg)
c.328A>C (p.Ser110Arg)
 dbSNP gnomAD v2 gnomAD v4
20g.32428224A>GCA408551634ASXL1c.349A>G (p.Ser117Gly)
n.292A>G
c.265A>G (p.Ser89Gly)
n.1153A>G
c.*188A>G (n.*188A>G)
n.53A>G
n.97A>G
c.319A>G (p.Ser107Gly)
c.334A>G (p.Ser112Gly)
c.346A>G (p.Ser116Gly)
c.613A>G (p.Ser205Gly)
c.610A>G (p.Ser204Gly)
c.529A>G (p.Ser177Gly)
c.328A>G (p.Ser110Gly)
20g.32428224A>TCA408551635ASXL1c.349A>T (p.Ser117Cys)
n.292A>T
c.265A>T (p.Ser89Cys)
n.1153A>T
c.*188A>T (n.*188A>T)
n.53A>T
n.97A>T
c.319A>T (p.Ser107Cys)
c.334A>T (p.Ser112Cys)
c.346A>T (p.Ser116Cys)
c.613A>T (p.Ser205Cys)
c.610A>T (p.Ser204Cys)
c.529A>T (p.Ser177Cys)
c.328A>T (p.Ser110Cys)
20g.32428225G>ACA408551636ASXL1c.350G>A (p.Ser117Asn)
n.293G>A
c.266G>A (p.Ser89Asn)
n.1154G>A
c.*189G>A (n.*189G>A)
n.54G>A
n.98G>A
c.320G>A (p.Ser107Asn)
c.335G>A (p.Ser112Asn)
c.347G>A (p.Ser116Asn)
c.614G>A (p.Ser205Asn)
c.611G>A (p.Ser204Asn)
c.530G>A (p.Ser177Asn)
c.329G>A (p.Ser110Asn)
 dbSNP
20g.32428225G>CCA408551637ASXL1c.350G>C (p.Ser117Thr)
n.293G>C
c.266G>C (p.Ser89Thr)
n.1154G>C
c.*189G>C (n.*189G>C)
n.54G>C
n.98G>C
c.320G>C (p.Ser107Thr)
c.335G>C (p.Ser112Thr)
c.347G>C (p.Ser116Thr)
c.614G>C (p.Ser205Thr)
c.611G>C (p.Ser204Thr)
c.530G>C (p.Ser177Thr)
c.329G>C (p.Ser110Thr)
 gnomAD v4
20g.32428225G>TCA408551638ASXL1c.350G>T (p.Ser117Ile)
n.293G>T
c.266G>T (p.Ser89Ile)
n.1154G>T
c.*189G>T (n.*189G>T)
n.54G>T
n.98G>T
c.320G>T (p.Ser107Ile)
c.335G>T (p.Ser112Ile)
c.347G>T (p.Ser116Ile)
c.614G>T (p.Ser205Ile)
c.611G>T (p.Ser204Ile)
c.530G>T (p.Ser177Ile)
c.329G>T (p.Ser110Ile)
20g.32428226C>ACA408551640ASXL1c.351C>A (p.Ser117Arg)
n.294C>A
c.267C>A (p.Ser89Arg)
n.1155C>A
c.*190C>A (n.*190C>A)
n.55C>A
n.99C>A
c.321C>A (p.Ser107Arg)
c.336C>A (p.Ser112Arg)
c.348C>A (p.Ser116Arg)
c.615C>A (p.Ser205Arg)
c.612C>A (p.Ser204Arg)
c.531C>A (p.Ser177Arg)
c.330C>A (p.Ser110Arg)
 dbSNP
20g.32428226C>GCA408551642ASXL1c.351C>G (p.Ser117Arg)
n.294C>G
c.267C>G (p.Ser89Arg)
n.1155C>G
c.*190C>G (n.*190C>G)
n.55C>G
n.99C>G
c.321C>G (p.Ser107Arg)
c.336C>G (p.Ser112Arg)
c.348C>G (p.Ser116Arg)
c.615C>G (p.Ser205Arg)
c.612C>G (p.Ser204Arg)
c.531C>G (p.Ser177Arg)
c.330C>G (p.Ser110Arg)
 dbSNP
20g.32428226C>TCA510200455ASXL1c.351C>T (p.Ser117=)
n.294C>T
c.267C>T (p.Ser89=)
n.1155C>T
c.*190C>T (n.*190C>T)
n.55C>T
n.99C>T
c.321C>T (p.Ser107=)
c.336C>T (p.Ser112=)
c.348C>T (p.Ser116=)
c.615C>T (p.Ser205=)
c.612C>T (p.Ser204=)
c.531C>T (p.Ser177=)
c.330C>T (p.Ser110=)
 dbSNP
20g.32428227A>CCA408551644ASXL1c.352A>C (p.Thr118Pro)
n.295A>C
c.268A>C (p.Thr90Pro)
n.1156A>C
c.*191A>C (n.*191A>C)
n.56A>C
n.100A>C
c.322A>C (p.Thr108Pro)
c.337A>C (p.Thr113Pro)
c.349A>C (p.Thr117Pro)
c.616A>C (p.Thr206Pro)
c.613A>C (p.Thr205Pro)
c.532A>C (p.Thr178Pro)
c.331A>C (p.Thr111Pro)
20g.32428227A>GCA408551645ASXL1c.352A>G (p.Thr118Ala)
n.295A>G
c.268A>G (p.Thr90Ala)
n.1156A>G
c.*191A>G (n.*191A>G)
n.56A>G
n.100A>G
c.322A>G (p.Thr108Ala)
c.337A>G (p.Thr113Ala)
c.349A>G (p.Thr117Ala)
c.616A>G (p.Thr206Ala)
c.613A>G (p.Thr205Ala)
c.532A>G (p.Thr178Ala)
c.331A>G (p.Thr111Ala)
 gnomAD v4
20g.32428227A>TCA408551646ASXL1c.352A>T (p.Thr118Ser)
n.295A>T
c.268A>T (p.Thr90Ser)
n.1156A>T
c.*191A>T (n.*191A>T)
n.56A>T
n.100A>T
c.322A>T (p.Thr108Ser)
c.337A>T (p.Thr113Ser)
c.349A>T (p.Thr117Ser)
c.616A>T (p.Thr206Ser)
c.613A>T (p.Thr205Ser)
c.532A>T (p.Thr178Ser)
c.331A>T (p.Thr111Ser)
20g.32428228C>ACA408551651ASXL1c.353C>A (p.Thr118Asn)
n.296C>A
c.269C>A (p.Thr90Asn)
n.1157C>A
c.*192C>A (n.*192C>A)
n.57C>A
n.101C>A
c.323C>A (p.Thr108Asn)
c.338C>A (p.Thr113Asn)
c.350C>A (p.Thr117Asn)
c.617C>A (p.Thr206Asn)
c.614C>A (p.Thr205Asn)
c.533C>A (p.Thr178Asn)
c.332C>A (p.Thr111Asn)
20g.32428228C=CA2360289963ASXL1c.353C= (p.Thr118=)
n.296C=
c.269C= (p.Thr90=)
n.1157C=
c.*192C= (n.*192C=)
n.57C=
n.101C=
c.323C= (p.Thr108=)
c.338C= (p.Thr113=)
c.350C= (p.Thr117=)
c.617C= (p.Thr206=)
c.614C= (p.Thr205=)
c.533C= (p.Thr178=)
c.332C= (p.Thr111=)
20g.32428228C>GCA9808059ASXL1c.353C>G (p.Thr118Ser)
n.296C>G
c.269C>G (p.Thr90Ser)
n.1157C>G
c.*192C>G (n.*192C>G)
n.57C>G
n.101C>G
c.323C>G (p.Thr108Ser)
c.338C>G (p.Thr113Ser)
c.350C>G (p.Thr117Ser)
c.617C>G (p.Thr206Ser)
c.614C>G (p.Thr205Ser)
c.533C>G (p.Thr178Ser)
c.332C>G (p.Thr111Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32428228C>TCA408551648ASXL1c.353C>T (p.Thr118Ile)
n.296C>T
c.269C>T (p.Thr90Ile)
n.1157C>T
c.*192C>T (n.*192C>T)
n.57C>T
n.101C>T
c.323C>T (p.Thr108Ile)
c.338C>T (p.Thr113Ile)
c.350C>T (p.Thr117Ile)
c.617C>T (p.Thr206Ile)
c.614C>T (p.Thr205Ile)
c.533C>T (p.Thr178Ile)
c.332C>T (p.Thr111Ile)
 dbSNP
20g.32428229T>ACA510200456ASXL1c.354T>A (p.Thr118=)
n.297T>A
c.270T>A (p.Thr90=)
n.1158T>A
c.*193T>A (n.*193T>A)
n.58T>A
n.102T>A
c.324T>A (p.Thr108=)
c.339T>A (p.Thr113=)
c.351T>A (p.Thr117=)
c.618T>A (p.Thr206=)
c.615T>A (p.Thr205=)
c.534T>A (p.Thr178=)
c.333T>A (p.Thr111=)
 dbSNP gnomAD v4
20g.32428229T>CCA510200457ASXL1c.354T>C (p.Thr118=)
n.297T>C
c.270T>C (p.Thr90=)
n.1158T>C
c.*193T>C (n.*193T>C)
n.58T>C
n.102T>C
c.324T>C (p.Thr108=)
c.339T>C (p.Thr113=)
c.351T>C (p.Thr117=)
c.618T>C (p.Thr206=)
c.615T>C (p.Thr205=)
c.534T>C (p.Thr178=)
c.333T>C (p.Thr111=)
20g.32428229T>GCA510200458ASXL1c.354T>G (p.Thr118=)
n.297T>G
c.270T>G (p.Thr90=)
n.1158T>G
c.*193T>G (n.*193T>G)
n.58T>G
n.102T>G
c.324T>G (p.Thr108=)
c.339T>G (p.Thr113=)
c.351T>G (p.Thr117=)
c.618T>G (p.Thr206=)
c.615T>G (p.Thr205=)
c.534T>G (p.Thr178=)
c.333T>G (p.Thr111=)
20g.32428229T=CA2360289964ASXL1c.354T= (p.Thr118=)
n.297T=
c.270T= (p.Thr90=)
n.1158T=
c.*193T= (n.*193T=)
n.58T=
n.102T=
c.324T= (p.Thr108=)
c.339T= (p.Thr113=)
c.351T= (p.Thr117=)
c.618T= (p.Thr206=)
c.615T= (p.Thr205=)
c.534T= (p.Thr178=)
c.333T= (p.Thr111=)
20g.32428230G>ACA408551653ASXL1c.355G>A (p.Val119Met)
n.298G>A
c.271G>A (p.Val91Met)
n.1159G>A
c.*194G>A (n.*194G>A)
n.59G>A
n.103G>A
c.325G>A (p.Val109Met)
c.340G>A (p.Val114Met)
c.352G>A (p.Val118Met)
c.619G>A (p.Val207Met)
c.616G>A (p.Val206Met)
c.535G>A (p.Val179Met)
c.334G>A (p.Val112Met)
 ClinVar dbSNP gnomAD v4
20g.32428230G>CCA408551654ASXL1c.355G>C (p.Val119Leu)
n.298G>C
c.271G>C (p.Val91Leu)
n.1159G>C
c.*194G>C (n.*194G>C)
n.59G>C
n.103G>C
c.325G>C (p.Val109Leu)
c.340G>C (p.Val114Leu)
c.352G>C (p.Val118Leu)
c.619G>C (p.Val207Leu)
c.616G>C (p.Val206Leu)
c.535G>C (p.Val179Leu)
c.334G>C (p.Val112Leu)
 dbSNP gnomAD v2 gnomAD v4
20g.32428230G=CA2360289965ASXL1c.355G= (p.Val119=)
n.298G=
c.271G= (p.Val91=)
n.1159G=
c.*194G= (n.*194G=)
n.59G=
n.103G=
c.325G= (p.Val109=)
c.340G= (p.Val114=)
c.352G= (p.Val118=)
c.619G= (p.Val207=)
c.616G= (p.Val206=)
c.535G= (p.Val179=)
c.334G= (p.Val112=)
20g.32428230G>TCA408551656ASXL1c.355G>T (p.Val119Leu)
n.298G>T
c.271G>T (p.Val91Leu)
n.1159G>T
c.*194G>T (n.*194G>T)
n.59G>T
n.103G>T
c.325G>T (p.Val109Leu)
c.340G>T (p.Val114Leu)
c.352G>T (p.Val118Leu)
c.619G>T (p.Val207Leu)
c.616G>T (p.Val206Leu)
c.535G>T (p.Val179Leu)
c.334G>T (p.Val112Leu)
20g.32428231T>ACA408551658ASXL1c.356T>A (p.Val119Glu)
n.299T>A
c.272T>A (p.Val91Glu)
n.1160T>A
c.*195T>A (n.*195T>A)
n.60T>A
n.104T>A
c.326T>A (p.Val109Glu)
c.341T>A (p.Val114Glu)
c.353T>A (p.Val118Glu)
c.620T>A (p.Val207Glu)
c.617T>A (p.Val206Glu)
c.536T>A (p.Val179Glu)
c.335T>A (p.Val112Glu)
20g.32428231T>CCA408551660ASXL1c.356T>C (p.Val119Ala)
n.299T>C
c.272T>C (p.Val91Ala)
n.1160T>C
c.*195T>C (n.*195T>C)
n.60T>C
n.104T>C
c.326T>C (p.Val109Ala)
c.341T>C (p.Val114Ala)
c.353T>C (p.Val118Ala)
c.620T>C (p.Val207Ala)
c.617T>C (p.Val206Ala)
c.536T>C (p.Val179Ala)
c.335T>C (p.Val112Ala)
 gnomAD v4
20g.32428231T>GCA408551661ASXL1c.356T>G (p.Val119Gly)
n.299T>G
c.272T>G (p.Val91Gly)
n.1160T>G
c.*195T>G (n.*195T>G)
n.60T>G
n.104T>G
c.326T>G (p.Val109Gly)
c.341T>G (p.Val114Gly)
c.353T>G (p.Val118Gly)
c.620T>G (p.Val207Gly)
c.617T>G (p.Val206Gly)
c.536T>G (p.Val179Gly)
c.335T>G (p.Val112Gly)
 dbSNP gnomAD v2
20g.32428231T=CA2360289966ASXL1c.356T= (p.Val119=)
n.299T=
c.272T= (p.Val91=)
n.1160T=
c.*195T= (n.*195T=)
n.60T=
n.104T=
c.326T= (p.Val109=)
c.341T= (p.Val114=)
c.353T= (p.Val118=)
c.620T= (p.Val207=)
c.617T= (p.Val206=)
c.536T= (p.Val179=)
c.335T= (p.Val112=)
20g.32428232G>ACA510200460ASXL1c.357G>A (p.Val119=)
n.300G>A
c.273G>A (p.Val91=)
n.1161G>A
c.*196G>A (n.*196G>A)
n.61G>A
n.105G>A
c.327G>A (p.Val109=)
c.342G>A (p.Val114=)
c.354G>A (p.Val118=)
c.621G>A (p.Val207=)
c.618G>A (p.Val206=)
c.537G>A (p.Val179=)
c.336G>A (p.Val112=)
20g.32428232G>CCA510200461ASXL1c.357G>C (p.Val119=)
n.300G>C
c.273G>C (p.Val91=)
n.1161G>C
c.*196G>C (n.*196G>C)
n.61G>C
n.105G>C
c.327G>C (p.Val109=)
c.342G>C (p.Val114=)
c.354G>C (p.Val118=)
c.621G>C (p.Val207=)
c.618G>C (p.Val206=)
c.537G>C (p.Val179=)
c.336G>C (p.Val112=)
20g.32428232G>TCA510200459ASXL1c.357G>T (p.Val119=)
n.300G>T
c.273G>T (p.Val91=)
n.1161G>T
c.*196G>T (n.*196G>T)
n.61G>T
n.105G>T
c.327G>T (p.Val109=)
c.342G>T (p.Val114=)
c.354G>T (p.Val118=)
c.621G>T (p.Val207=)
c.618G>T (p.Val206=)
c.537G>T (p.Val179=)
c.336G>T (p.Val112=)
20g.32428233A>CCA408551663ASXL1c.358A>C (p.Ser120Arg)
n.301A>C
c.274A>C (p.Ser92Arg)
n.1162A>C
c.*197A>C (n.*197A>C)
n.62A>C
n.106A>C
c.328A>C (p.Ser110Arg)
c.343A>C (p.Ser115Arg)
c.355A>C (p.Ser119Arg)
c.622A>C (p.Ser208Arg)
c.619A>C (p.Ser207Arg)
c.538A>C (p.Ser180Arg)
c.337A>C (p.Ser113Arg)
20g.32428233A>GCA408551665ASXL1c.358A>G (p.Ser120Gly)
n.301A>G
c.274A>G (p.Ser92Gly)
n.1162A>G
c.*197A>G (n.*197A>G)
n.62A>G
n.106A>G
c.328A>G (p.Ser110Gly)
c.343A>G (p.Ser115Gly)
c.355A>G (p.Ser119Gly)
c.622A>G (p.Ser208Gly)
c.619A>G (p.Ser207Gly)
c.538A>G (p.Ser180Gly)
c.337A>G (p.Ser113Gly)
20g.32428233A>TCA408551666ASXL1c.358A>T (p.Ser120Cys)
n.301A>T
c.274A>T (p.Ser92Cys)
n.1162A>T
c.*197A>T (n.*197A>T)
n.62A>T
n.106A>T
c.328A>T (p.Ser110Cys)
c.343A>T (p.Ser115Cys)
c.355A>T (p.Ser119Cys)
c.622A>T (p.Ser208Cys)
c.619A>T (p.Ser207Cys)
c.538A>T (p.Ser180Cys)
c.337A>T (p.Ser113Cys)
20g.32428234G>ACA408551668ASXL1c.359G>A (p.Ser120Asn)
n.302G>A
c.275G>A (p.Ser92Asn)
n.1163G>A
c.*198G>A (n.*198G>A)
n.63G>A
n.107G>A
c.329G>A (p.Ser110Asn)
c.344G>A (p.Ser115Asn)
c.356G>A (p.Ser119Asn)
c.623G>A (p.Ser208Asn)
c.620G>A (p.Ser207Asn)
c.539G>A (p.Ser180Asn)
c.338G>A (p.Ser113Asn)
 dbSNP COSMIC
20g.32428234G>CCA408551669ASXL1c.359G>C (p.Ser120Thr)
n.302G>C
c.275G>C (p.Ser92Thr)
n.1163G>C
c.*198G>C (n.*198G>C)
n.63G>C
n.107G>C
c.329G>C (p.Ser110Thr)
c.344G>C (p.Ser115Thr)
c.356G>C (p.Ser119Thr)
c.623G>C (p.Ser208Thr)
c.620G>C (p.Ser207Thr)
c.539G>C (p.Ser180Thr)
c.338G>C (p.Ser113Thr)
20g.32428234G>TCA408551671ASXL1c.359G>T (p.Ser120Ile)
n.302G>T
c.275G>T (p.Ser92Ile)
n.1163G>T
c.*198G>T (n.*198G>T)
n.63G>T
n.107G>T
c.329G>T (p.Ser110Ile)
c.344G>T (p.Ser115Ile)
c.356G>T (p.Ser119Ile)
c.623G>T (p.Ser208Ile)
c.620G>T (p.Ser207Ile)
c.539G>T (p.Ser180Ile)
c.338G>T (p.Ser113Ile)
 gnomAD v4
20g.32428235T>ACA408551675ASXL1c.360T>A (p.Ser120Arg)
n.303T>A
c.276T>A (p.Ser92Arg)
n.1164T>A
c.*199T>A (n.*199T>A)
n.64T>A
n.108T>A
c.330T>A (p.Ser110Arg)
c.345T>A (p.Ser115Arg)
c.357T>A (p.Ser119Arg)
c.624T>A (p.Ser208Arg)
c.621T>A (p.Ser207Arg)
c.540T>A (p.Ser180Arg)
c.339T>A (p.Ser113Arg)
20g.32428235T>CCA510200462ASXL1c.360T>C (p.Ser120=)
n.303T>C
c.276T>C (p.Ser92=)
n.1164T>C
c.*199T>C (n.*199T>C)
n.64T>C
n.108T>C
c.330T>C (p.Ser110=)
c.345T>C (p.Ser115=)
c.357T>C (p.Ser119=)
c.624T>C (p.Ser208=)
c.621T>C (p.Ser207=)
c.540T>C (p.Ser180=)
c.339T>C (p.Ser113=)
20g.32428235T>GCA408551673ASXL1c.360T>G (p.Ser120Arg)
n.303T>G
c.276T>G (p.Ser92Arg)
n.1164T>G
c.*199T>G (n.*199T>G)
n.64T>G
n.108T>G
c.330T>G (p.Ser110Arg)
c.345T>G (p.Ser115Arg)
c.357T>G (p.Ser119Arg)
c.624T>G (p.Ser208Arg)
c.621T>G (p.Ser207Arg)
c.540T>G (p.Ser180Arg)
c.339T>G (p.Ser113Arg)
20g.32428236G>ACA408551676ASXL1c.361G>A (p.Gly121Ser)
n.304G>A
c.277G>A (p.Gly93Ser)
n.1165G>A
c.*200G>A (n.*200G>A)
n.65G>A
n.109G>A
c.331G>A (p.Gly111Ser)
c.346G>A (p.Gly116Ser)
c.358G>A (p.Gly120Ser)
c.625G>A (p.Gly209Ser)
c.622G>A (p.Gly208Ser)
c.541G>A (p.Gly181Ser)
c.340G>A (p.Gly114Ser)
 dbSNP gnomAD v3 gnomAD v4
20g.32428236G>CCA408551677ASXL1c.361G>C (p.Gly121Arg)
n.304G>C
c.277G>C (p.Gly93Arg)
n.1165G>C
c.*200G>C (n.*200G>C)
n.65G>C
n.109G>C
c.331G>C (p.Gly111Arg)
c.346G>C (p.Gly116Arg)
c.358G>C (p.Gly120Arg)
c.625G>C (p.Gly209Arg)
c.622G>C (p.Gly208Arg)
c.541G>C (p.Gly181Arg)
c.340G>C (p.Gly114Arg)
20g.32428236G=CA2360289967ASXL1c.361G= (p.Gly121=)
n.304G=
c.277G= (p.Gly93=)
n.1165G=
c.*200G= (n.*200G=)
n.65G=
n.109G=
c.331G= (p.Gly111=)
c.346G= (p.Gly116=)
c.358G= (p.Gly120=)
c.625G= (p.Gly209=)
c.622G= (p.Gly208=)
c.541G= (p.Gly181=)
c.340G= (p.Gly114=)
20g.32428236G>TCA408551679ASXL1c.361G>T (p.Gly121Cys)
n.304G>T
c.277G>T (p.Gly93Cys)
n.1165G>T
c.*200G>T (n.*200G>T)
n.65G>T
n.109G>T
c.331G>T (p.Gly111Cys)
c.346G>T (p.Gly116Cys)
c.358G>T (p.Gly120Cys)
c.625G>T (p.Gly209Cys)
c.622G>T (p.Gly208Cys)
c.541G>T (p.Gly181Cys)
c.340G>T (p.Gly114Cys)
20g.32428237G>ACA408551681ASXL1c.362G>A (p.Gly121Asp)
n.305G>A
c.278G>A (p.Gly93Asp)
n.1166G>A
c.*201G>A (n.*201G>A)
n.66G>A
n.110G>A
c.332G>A (p.Gly111Asp)
c.347G>A (p.Gly116Asp)
c.359G>A (p.Gly120Asp)
c.626G>A (p.Gly209Asp)
c.623G>A (p.Gly208Asp)
c.542G>A (p.Gly181Asp)
c.341G>A (p.Gly114Asp)
20g.32428237G>CCA408551682ASXL1c.362G>C (p.Gly121Ala)
n.305G>C
c.278G>C (p.Gly93Ala)
n.1166G>C
c.*201G>C (n.*201G>C)
n.66G>C
n.110G>C
c.332G>C (p.Gly111Ala)
c.347G>C (p.Gly116Ala)
c.359G>C (p.Gly120Ala)
c.626G>C (p.Gly209Ala)
c.623G>C (p.Gly208Ala)
c.542G>C (p.Gly181Ala)
c.341G>C (p.Gly114Ala)
 dbSNP
20g.32428237G>TCA408551683ASXL1c.362G>T (p.Gly121Val)
n.305G>T
c.278G>T (p.Gly93Val)
n.1166G>T
c.*201G>T (n.*201G>T)
n.66G>T
n.110G>T
c.332G>T (p.Gly111Val)
c.347G>T (p.Gly116Val)
c.359G>T (p.Gly120Val)
c.626G>T (p.Gly209Val)
c.623G>T (p.Gly208Val)
c.542G>T (p.Gly181Val)
c.341G>T (p.Gly114Val)
20g.32428238T>ACA510200465ASXL1c.363T>A (p.Gly121=)
n.306T>A
c.279T>A (p.Gly93=)
n.1167T>A
c.*202T>A (n.*202T>A)
n.67T>A
n.111T>A
c.333T>A (p.Gly111=)
c.348T>A (p.Gly116=)
c.360T>A (p.Gly120=)
c.627T>A (p.Gly209=)
c.624T>A (p.Gly208=)
c.543T>A (p.Gly181=)
c.342T>A (p.Gly114=)
 dbSNP
20g.32428238T>CCA510200464ASXL1c.363T>C (p.Gly121=)
n.306T>C
c.279T>C (p.Gly93=)
n.1167T>C
c.*202T>C (n.*202T>C)
n.67T>C
n.111T>C
c.333T>C (p.Gly111=)
c.348T>C (p.Gly116=)
c.360T>C (p.Gly120=)
c.627T>C (p.Gly209=)
c.624T>C (p.Gly208=)
c.543T>C (p.Gly181=)
c.342T>C (p.Gly114=)
 gnomAD v4
20g.32428238T>GCA510200463ASXL1c.363T>G (p.Gly121=)
n.306T>G
c.279T>G (p.Gly93=)
n.1167T>G
c.*202T>G (n.*202T>G)
n.67T>G
n.111T>G
c.333T>G (p.Gly111=)
c.348T>G (p.Gly116=)
c.360T>G (p.Gly120=)
c.627T>G (p.Gly209=)
c.624T>G (p.Gly208=)
c.543T>G (p.Gly181=)
c.342T>G (p.Gly114=)
20g.32428239G>ACA408551688ASXL1c.364G>A (p.Glu122Lys)
n.307G>A
c.280G>A (p.Glu94Lys)
n.1168G>A
c.*203G>A (n.*203G>A)
n.68G>A
n.112G>A
c.334G>A (p.Glu112Lys)
c.349G>A (p.Glu117Lys)
c.361G>A (p.Glu121Lys)
c.628G>A (p.Glu210Lys)
c.625G>A (p.Glu209Lys)
c.544G>A (p.Glu182Lys)
c.343G>A (p.Glu115Lys)
20g.32428239G>CCA408551685ASXL1c.364G>C (p.Glu122Gln)
n.307G>C
c.280G>C (p.Glu94Gln)
n.1168G>C
c.*203G>C (n.*203G>C)
n.68G>C
n.112G>C
c.334G>C (p.Glu112Gln)
c.349G>C (p.Glu117Gln)
c.361G>C (p.Glu121Gln)
c.628G>C (p.Glu210Gln)
c.625G>C (p.Glu209Gln)
c.544G>C (p.Glu182Gln)
c.343G>C (p.Glu115Gln)
20g.32428239G>TCA408551687ASXL1c.364G>T (p.Glu122Ter)
n.307G>T
c.280G>T (p.Glu94Ter)
n.1168G>T
c.*203G>T (n.*203G>T)
n.68G>T
n.112G>T
c.334G>T (p.Glu112Ter)
c.349G>T (p.Glu117Ter)
c.361G>T (p.Glu121Ter)
c.628G>T (p.Glu210Ter)
c.625G>T (p.Glu209Ter)
c.544G>T (p.Glu182Ter)
c.343G>T (p.Glu115Ter)
20g.32428240A>CCA408551690ASXL1c.365A>C (p.Glu122Ala)
n.308A>C
c.281A>C (p.Glu94Ala)
n.1169A>C
c.*204A>C (n.*204A>C)
n.69A>C
n.113A>C
c.335A>C (p.Glu112Ala)
c.350A>C (p.Glu117Ala)
c.362A>C (p.Glu121Ala)
c.629A>C (p.Glu210Ala)
c.626A>C (p.Glu209Ala)
c.545A>C (p.Glu182Ala)
c.344A>C (p.Glu115Ala)
20g.32428240A>GCA408551691ASXL1c.365A>G (p.Glu122Gly)
n.308A>G
c.281A>G (p.Glu94Gly)
n.1169A>G
c.*204A>G (n.*204A>G)
n.69A>G
n.113A>G
c.335A>G (p.Glu112Gly)
c.350A>G (p.Glu117Gly)
c.362A>G (p.Glu121Gly)
c.629A>G (p.Glu210Gly)
c.626A>G (p.Glu209Gly)
c.545A>G (p.Glu182Gly)
c.344A>G (p.Glu115Gly)
20g.32428240A>TCA408551693ASXL1c.365A>T (p.Glu122Val)
n.308A>T
c.281A>T (p.Glu94Val)
n.1169A>T
c.*204A>T (n.*204A>T)
n.69A>T
n.113A>T
c.335A>T (p.Glu112Val)
c.350A>T (p.Glu117Val)
c.362A>T (p.Glu121Val)
c.629A>T (p.Glu210Val)
c.626A>T (p.Glu209Val)
c.545A>T (p.Glu182Val)
c.344A>T (p.Glu115Val)
20g.32428241A>CCA408551694ASXL1c.366A>C (p.Glu122Asp)
n.309A>C
c.282A>C (p.Glu94Asp)
n.1170A>C
c.*205A>C (n.*205A>C)
n.70A>C
n.114A>C
c.336A>C (p.Glu112Asp)
c.351A>C (p.Glu117Asp)
c.363A>C (p.Glu121Asp)
c.630A>C (p.Glu210Asp)
c.627A>C (p.Glu209Asp)
c.546A>C (p.Glu182Asp)
c.345A>C (p.Glu115Asp)
20g.32428241A>GCA510200466ASXL1c.366A>G (p.Glu122=)
n.309A>G
c.282A>G (p.Glu94=)
n.1170A>G
c.*205A>G (n.*205A>G)
n.70A>G
n.114A>G
c.336A>G (p.Glu112=)
c.351A>G (p.Glu117=)
c.363A>G (p.Glu121=)
c.630A>G (p.Glu210=)
c.627A>G (p.Glu209=)
c.546A>G (p.Glu182=)
c.345A>G (p.Glu115=)
 gnomAD v4 COSMIC COSMIC
20g.32428241A>TCA408551696ASXL1c.366A>T (p.Glu122Asp)
n.309A>T
c.282A>T (p.Glu94Asp)
n.1170A>T
c.*205A>T (n.*205A>T)
n.70A>T
n.114A>T
c.336A>T (p.Glu112Asp)
c.351A>T (p.Glu117Asp)
c.363A>T (p.Glu121Asp)
c.630A>T (p.Glu210Asp)
c.627A>T (p.Glu209Asp)
c.546A>T (p.Glu182Asp)
c.345A>T (p.Glu115Asp)
20g.32428242A>CCA408551698ASXL1c.367A>C (p.Asn123His)
n.310A>C
c.283A>C (p.Asn95His)
n.1171A>C
c.*206A>C (n.*206A>C)
n.71A>C
n.115A>C
c.337A>C (p.Asn113His)
c.352A>C (p.Asn118His)
c.364A>C (p.Asn122His)
c.631A>C (p.Asn211His)
c.628A>C (p.Asn210His)
c.547A>C (p.Asn183His)
c.346A>C (p.Asn116His)
20g.32428242A>GCA408551701ASXL1c.367A>G (p.Asn123Asp)
n.310A>G
c.283A>G (p.Asn95Asp)
n.1171A>G
c.*206A>G (n.*206A>G)
n.71A>G
n.115A>G
c.337A>G (p.Asn113Asp)
c.352A>G (p.Asn118Asp)
c.364A>G (p.Asn122Asp)
c.631A>G (p.Asn211Asp)
c.628A>G (p.Asn210Asp)
c.547A>G (p.Asn183Asp)
c.346A>G (p.Asn116Asp)
20g.32428242A>TCA408551700ASXL1c.367A>T (p.Asn123Tyr)
n.310A>T
c.283A>T (p.Asn95Tyr)
n.1171A>T
c.*206A>T (n.*206A>T)
n.71A>T
n.115A>T
c.337A>T (p.Asn113Tyr)
c.352A>T (p.Asn118Tyr)
c.364A>T (p.Asn122Tyr)
c.631A>T (p.Asn211Tyr)
c.628A>T (p.Asn210Tyr)
c.547A>T (p.Asn183Tyr)
c.346A>T (p.Asn116Tyr)
20g.32428243A=CA2360289968ASXL1c.368A= (p.Asn123=)
n.311A=
c.284A= (p.Asn95=)
n.1172A=
c.*207A= (n.*207A=)
n.72A=
n.116A=
c.338A= (p.Asn113=)
c.353A= (p.Asn118=)
c.365A= (p.Asn122=)
c.632A= (p.Asn211=)
c.629A= (p.Asn210=)
c.548A= (p.Asn183=)
c.347A= (p.Asn116=)
20g.32428243A>CCA408551703ASXL1c.368A>C (p.Asn123Thr)
n.311A>C
c.284A>C (p.Asn95Thr)
n.1172A>C
c.*207A>C (n.*207A>C)
n.72A>C
n.116A>C
c.338A>C (p.Asn113Thr)
c.353A>C (p.Asn118Thr)
c.365A>C (p.Asn122Thr)
c.632A>C (p.Asn211Thr)
c.629A>C (p.Asn210Thr)
c.548A>C (p.Asn183Thr)
c.347A>C (p.Asn116Thr)
20g.32428243A>GCA313924103ASXL1c.368A>G (p.Asn123Ser)
n.311A>G
c.284A>G (p.Asn95Ser)
n.1172A>G
c.*207A>G (n.*207A>G)
n.72A>G
n.116A>G
c.338A>G (p.Asn113Ser)
c.353A>G (p.Asn118Ser)
c.365A>G (p.Asn122Ser)
c.632A>G (p.Asn211Ser)
c.629A>G (p.Asn210Ser)
c.548A>G (p.Asn183Ser)
c.347A>G (p.Asn116Ser)
 dbSNP gnomAD v3 gnomAD v4
20g.32428243A>TCA408551705ASXL1c.368A>T (p.Asn123Ile)
n.311A>T
c.284A>T (p.Asn95Ile)
n.1172A>T
c.*207A>T (n.*207A>T)
n.72A>T
n.116A>T
c.338A>T (p.Asn113Ile)
c.353A>T (p.Asn118Ile)
c.365A>T (p.Asn122Ile)
c.632A>T (p.Asn211Ile)
c.629A>T (p.Asn210Ile)
c.548A>T (p.Asn183Ile)
c.347A>T (p.Asn116Ile)
20g.32428244C>ACA408551707ASXL1c.369C>A (p.Asn123Lys)
n.312C>A
c.285C>A (p.Asn95Lys)
n.1173C>A
c.*208C>A (n.*208C>A)
n.73C>A
n.117C>A
c.339C>A (p.Asn113Lys)
c.354C>A (p.Asn118Lys)
c.366C>A (p.Asn122Lys)
c.633C>A (p.Asn211Lys)
c.630C>A (p.Asn210Lys)
c.549C>A (p.Asn183Lys)
c.348C>A (p.Asn116Lys)
20g.32428244C=CA2360289969ASXL1c.369C= (p.Asn123=)
n.312C=
c.285C= (p.Asn95=)
n.1173C=
c.*208C= (n.*208C=)
n.73C=
n.117C=
c.339C= (p.Asn113=)
c.354C= (p.Asn118=)
c.366C= (p.Asn122=)
c.633C= (p.Asn211=)
c.630C= (p.Asn210=)
c.549C= (p.Asn183=)
c.348C= (p.Asn116=)
20g.32428244C>GCA408551709ASXL1c.369C>G (p.Asn123Lys)
n.312C>G
c.285C>G (p.Asn95Lys)
n.1173C>G
c.*208C>G (n.*208C>G)
n.73C>G
n.117C>G
c.339C>G (p.Asn113Lys)
c.354C>G (p.Asn118Lys)
c.366C>G (p.Asn122Lys)
c.633C>G (p.Asn211Lys)
c.630C>G (p.Asn210Lys)
c.549C>G (p.Asn183Lys)
c.348C>G (p.Asn116Lys)
 dbSNP
20g.32428244C>TCA9808060ASXL1c.369C>T (p.Asn123=)
n.312C>T
c.285C>T (p.Asn95=)
n.1173C>T
c.*208C>T (n.*208C>T)
n.73C>T
n.117C>T
c.339C>T (p.Asn113=)
c.354C>T (p.Asn118=)
c.366C>T (p.Asn122=)
c.633C>T (p.Asn211=)
c.630C>T (p.Asn210=)
c.549C>T (p.Asn183=)
c.348C>T (p.Asn116=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32428245G>ACA9808061ASXL1c.370G>A (p.Asp124Asn)
n.313G>A
c.286G>A (p.Asp96Asn)
n.1174G>A
c.*209G>A (n.*209G>A)
n.74G>A
n.118G>A
c.340G>A (p.Asp114Asn)
c.355G>A (p.Asp119Asn)
c.367G>A (p.Asp123Asn)
c.634G>A (p.Asp212Asn)
c.631G>A (p.Asp211Asn)
c.550G>A (p.Asp184Asn)
c.349G>A (p.Asp117Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.32428245G>CCA408551712ASXL1c.370G>C (p.Asp124His)
n.313G>C
c.286G>C (p.Asp96His)
n.1174G>C
c.*209G>C (n.*209G>C)
n.74G>C
n.118G>C
c.340G>C (p.Asp114His)
c.355G>C (p.Asp119His)
c.367G>C (p.Asp123His)
c.634G>C (p.Asp212His)
c.631G>C (p.Asp211His)
c.550G>C (p.Asp184His)
c.349G>C (p.Asp117His)
20g.32428245G=CA2360289970ASXL1c.370G= (p.Asp124=)
n.313G=
c.286G= (p.Asp96=)
n.1174G=
c.*209G= (n.*209G=)
n.74G=
n.118G=
c.340G= (p.Asp114=)
c.355G= (p.Asp119=)
c.367G= (p.Asp123=)
c.634G= (p.Asp212=)
c.631G= (p.Asp211=)
c.550G= (p.Asp184=)
c.349G= (p.Asp117=)
20g.32428245G>TCA408551713ASXL1c.370G>T (p.Asp124Tyr)
n.313G>T
c.286G>T (p.Asp96Tyr)
n.1174G>T
c.*209G>T (n.*209G>T)
n.74G>T
n.118G>T
c.340G>T (p.Asp114Tyr)
c.355G>T (p.Asp119Tyr)
c.367G>T (p.Asp123Tyr)
c.634G>T (p.Asp212Tyr)
c.631G>T (p.Asp211Tyr)
c.550G>T (p.Asp184Tyr)
c.349G>T (p.Asp117Tyr)
20g.32428246A>CCA408551715ASXL1c.371A>C (p.Asp124Ala)
n.314A>C
c.287A>C (p.Asp96Ala)
n.1175A>C
c.*210A>C (n.*210A>C)
n.75A>C
n.119A>C
c.341A>C (p.Asp114Ala)
c.356A>C (p.Asp119Ala)
c.368A>C (p.Asp123Ala)
c.635A>C (p.Asp212Ala)
c.632A>C (p.Asp211Ala)
c.551A>C (p.Asp184Ala)
c.350A>C (p.Asp117Ala)
20g.32428246A>GCA408551716ASXL1c.371A>G (p.Asp124Gly)
n.314A>G
c.287A>G (p.Asp96Gly)
n.1175A>G
c.*210A>G (n.*210A>G)
n.75A>G
n.119A>G
c.341A>G (p.Asp114Gly)
c.356A>G (p.Asp119Gly)
c.368A>G (p.Asp123Gly)
c.635A>G (p.Asp212Gly)
c.632A>G (p.Asp211Gly)
c.551A>G (p.Asp184Gly)
c.350A>G (p.Asp117Gly)
20g.32428246A>TCA408551718ASXL1c.371A>T (p.Asp124Val)
n.314A>T
c.287A>T (p.Asp96Val)
n.1175A>T
c.*210A>T (n.*210A>T)
n.75A>T
n.119A>T
c.341A>T (p.Asp114Val)
c.356A>T (p.Asp119Val)
c.368A>T (p.Asp123Val)
c.635A>T (p.Asp212Val)
c.632A>T (p.Asp211Val)
c.551A>T (p.Asp184Val)
c.350A>T (p.Asp117Val)

Number of alleles fetched