Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.45645203_45645206dupCA2673782207HCN1c.834_837dup (p.Gln280ThrfsTer12)
n.62_65dup
c.834_837dup (p.Gln280ThrfsTer14)
gnomAD v4
5g.45645199G>ACA163275HCN1c.835C>T (p.His279Tyr)
n.63C>T
ClinVar dbSNP COSMIC
5g.45645199G>CCA359707010HCN1c.835C>G (p.His279Asp)
n.63C>G
5g.45645199G=CA1543790241HCN1c.835C= (p.His279=)
n.63C=
5g.45645199G>TCA359707011HCN1c.835C>A (p.His279Asn)
n.63C>A
5g.45645200T>ACA444260217HCN1c.834A>T (p.Ile278=)
n.62A>T
5g.45645200T>CCA359707012HCN1c.834A>G (p.Ile278Met)
n.62A>G
5g.45645200T>GCA444260220HCN1c.834A>C (p.Ile278=)
n.62A>C
5g.45645200dupCA2578305116HCN1c.834dup (p.His279ThrfsTer12)
n.62dup
c.834dup (p.His279ThrfsTer14)
5g.45645201A>CCA359707013HCN1c.833T>G (p.Ile278Arg)
n.61T>G
5g.45645201A>GCA359707015HCN1c.833T>C (p.Ile278Thr)
n.61T>C
5g.45645201A>TCA359707014HCN1c.833T>A (p.Ile278Lys)
n.61T>A
5g.45645202T>ACA359707016HCN1c.832A>T (p.Ile278Leu)
n.60A>T
5g.45645202T>CCA359707018HCN1c.832A>G (p.Ile278Val)
n.60A>G
ClinVar
5g.45645202T>GCA359707017HCN1c.832A>C (p.Ile278Leu)
n.60A>C
5g.45645203G>ACA444260227HCN1c.831C>T (p.Tyr277=)
n.59C>T
gnomAD v4
5g.45645203G>CCA359707019HCN1c.831C>G (p.Tyr277Ter)
n.59C>G
ClinVar dbSNP
5g.45645203G=CA1543790247HCN1c.831C= (p.Tyr277=)
n.59C=
5g.45645203G>TCA359707020HCN1c.831C>A (p.Tyr277Ter)
n.59C>A
5g.45645204T>ACA359707021HCN1c.830A>T (p.Tyr277Phe)
n.58A>T
5g.45645204T>CCA359707022HCN1c.830A>G (p.Tyr277Cys)
n.58A>G
5g.45645204T>GCA359707023HCN1c.830A>C (p.Tyr277Ser)
n.58A>C
5g.45645205A>CCA359707024HCN1c.829T>G (p.Tyr277Asp)
n.57T>G
5g.45645205A>GCA359707025HCN1c.829T>C (p.Tyr277His)
n.57T>C
gnomAD v4
5g.45645205A>TCA359707026HCN1c.829T>A (p.Tyr277Asn)
n.57T>A
5g.45645206T>ACA359707027HCN1c.828A>T (p.Arg276Ser)
n.56A>T
dbSNP
5g.45645206T>CCA444260239HCN1c.828A>G (p.Arg276=)
n.56A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.45645206T>GCA359707028HCN1c.828A>C (p.Arg276Ser)
n.56A>C
5g.45645206T=CA1543790255HCN1c.828A= (p.Arg276=)
n.56A=
5g.45645207C>ACA359707031HCN1c.827G>T (p.Arg276Ile)
n.55G>T
5g.45645207C>GCA359707030HCN1c.827G>C (p.Arg276Thr)
n.55G>C
5g.45645207C>TCA359707029HCN1c.827G>A (p.Arg276Lys)
n.55G>A
5g.45645208T>ACA359707032HCN1c.826A>T (p.Arg276Ter)
n.54A>T
5g.45645208T>CCA359707033HCN1c.826A>G (p.Arg276Gly)
n.54A>G
COSMIC
5g.45645208T>GCA444260245HCN1c.826A>C (p.Arg276=)
n.54A>C
ClinVar
5g.45645211_45645214delCA2739274738HCN1c.823_826del (p.Ile275AspfsTer12)
n.51_54del
c.823_826del (p.Ile275AspfsTer9)
ClinVar
5g.45645209A>CCA359707034HCN1c.825T>G (p.Ile275Met)
n.53T>G
5g.45645209A>GCA444260248HCN1c.825T>C (p.Ile275=)
n.53T>C
5g.45645209A>TCA444260249HCN1c.825T>A (p.Ile275=)
n.53T>A
5g.45645210A>CCA359707035HCN1c.824T>G (p.Ile275Ser)
n.52T>G
5g.45645210A>GCA359707036HCN1c.824T>C (p.Ile275Thr)
n.52T>C
5g.45645210A>TCA359707037HCN1c.824T>A (p.Ile275Asn)
n.52T>A
5g.45645211T>ACA359707038HCN1c.823A>T (p.Ile275Phe)
n.51A>T
5g.45645211T>CCA359707039HCN1c.823A>G (p.Ile275Val)
n.51A>G
5g.45645211T>GCA359707040HCN1c.823A>C (p.Ile275Leu)
n.51A>C
5g.45645212T>ACA359707041HCN1c.822A>T (p.Leu274Phe)
n.50A>T
5g.45645212T>CCA444260258HCN1c.822A>G (p.Leu274=)
n.50A>G
gnomAD v4
5g.45645212T>GCA359707042HCN1c.822A>C (p.Leu274Phe)
n.50A>C
5g.45645213A>CCA359707044HCN1c.821T>G (p.Leu274Ter)
n.49T>G
5g.45645213A>GCA359707045HCN1c.821T>C (p.Leu274Ser)
n.49T>C
COSMIC
5g.45645213A>TCA359707043HCN1c.821T>A (p.Leu274Ter)
n.49T>A
5g.45645214A>CCA359707046HCN1c.820T>G (p.Leu274Val)
n.48T>G
5g.45645214A>GCA444260265HCN1c.820T>C (p.Leu274=)
n.48T>C
5g.45645214A>TCA359707047HCN1c.820T>A (p.Leu274Ile)
n.48T>A
5g.45645215C>ACA359707048HCN1c.819G>T (p.Arg273Ser)
n.47G>T
COSMIC
5g.45645215C>GCA359707049HCN1c.819G>C (p.Arg273Ser)
n.47G>C
5g.45645215C>TCA444260268HCN1c.819G>A (p.Arg273=)
n.47G>A
5g.45645216C>ACA359707050HCN1c.818G>T (p.Arg273Met)
n.46G>T
5g.45645216C=CA1543790266HCN1c.818G= (p.Arg273=)
n.46G=
5g.45645216C>GCA359707051HCN1c.818G>C (p.Arg273Thr)
n.46G>C
5g.45645216C>TCA118324605HCN1c.818G>A (p.Arg273Lys)
n.46G>A
dbSNP COSMIC
5g.45645217T>ACA359707052HCN1c.817A>T (p.Arg273Trp)
n.45A>T
5g.45645217T>CCA359707053HCN1c.817A>G (p.Arg273Gly)
n.45A>G
5g.45645217T>GCA444260275HCN1c.817A>C (p.Arg273=)
n.45A>C
5g.45645218T>ACA444260277HCN1c.816A>T (p.Ser272=)
n.44A>T
5g.45645218T>CCA444260279HCN1c.816A>G (p.Ser272=)
n.44A>G
5g.45645218T>GCA444260280HCN1c.816A>C (p.Ser272=)
n.44A>C
dbSNP
5g.45645218T=CA1543790270HCN1c.816A= (p.Ser272=)
n.44A=
5g.45645219G>ACA359707054HCN1c.815C>T (p.Ser272Leu)
n.43C>T
5g.45645219G>CCA359707055HCN1c.815C>G (p.Ser272Ter)
n.43C>G
5g.45645219G>TCA359707056HCN1c.815C>A (p.Ser272Ter)
n.43C>A
5g.45645220A=CA1543790275HCN1c.814T= (p.Ser272=)
n.42T=
5g.45645220A>CCA359707058HCN1c.814T>G (p.Ser272Ala)
n.42T>G
5g.45645220A>GCA163273HCN1c.814T>C (p.Ser272Pro)
n.42T>C
ClinVar dbSNP
5g.45645220A>TCA359707057HCN1c.814T>A (p.Ser272Thr)
n.42T>A
5g.45645221A>CCA444260289HCN1c.813T>G (p.Leu271=)
n.41T>G
5g.45645221A>GCA444260291HCN1c.813T>C (p.Leu271=)
n.41T>C
5g.45645221A>TCA444260292HCN1c.813T>A (p.Leu271=)
n.41T>A
5g.45645222A>CCA359707059HCN1c.812T>G (p.Leu271Arg)
n.40T>G
5g.45645222A>GCA359707060HCN1c.812T>C (p.Leu271Pro)
n.40T>C
5g.45645222A>TCA359707061HCN1c.812T>A (p.Leu271His)
n.40T>A
5g.45645223G>ACA359707062HCN1c.811C>T (p.Leu271Phe)
n.39C>T
5g.45645223G>CCA359707063HCN1c.811C>G (p.Leu271Val)
n.39C>G
5g.45645223G>TCA359707064HCN1c.811C>A (p.Leu271Ile)
n.39C>A
5g.45645224T>ACA444260301HCN1c.810A>T (p.Arg270=)
n.38A>T
5g.45645224T>CCA444260303HCN1c.810A>G (p.Arg270=)
n.38A>G
gnomAD v4
5g.45645224T>GCA444260304HCN1c.810A>C (p.Arg270=)
n.38A>C
5g.45645225C>ACA359707065HCN1c.809G>T (p.Arg270Leu)
n.37G>T
5g.45645225C>GCA359707067HCN1c.809G>C (p.Arg270Pro)
n.37G>C
5g.45645225C>TCA359707066HCN1c.809G>A (p.Arg270Gln)
n.37G>A
ClinVar dbSNP gnomAD v4 COSMIC
5g.45645226G>ACA3259415HCN1c.808C>T (p.Arg270Ter)
n.36C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.45645226G>CCA359707068HCN1c.808C>G (p.Arg270Gly)
n.36C>G
5g.45645226G=CA1543790288HCN1c.808C= (p.Arg270=)
n.36C=
5g.45645226G>TCA444260310HCN1c.808C>A (p.Arg270=)
n.36C>A
5g.45645227T>ACA359707069HCN1c.807A>T (p.Leu269Phe)
n.35A>T
5g.45645227T>CCA444260314HCN1c.807A>G (p.Leu269=)
n.35A>G
5g.45645227T>GCA359707070HCN1c.807A>C (p.Leu269Phe)
n.35A>C
5g.45645228A>CCA359707073HCN1c.806T>G (p.Leu269Ter)
n.34T>G
5g.45645228A>GCA359707072HCN1c.806T>C (p.Leu269Ser)
n.34T>C
5g.45645228A>TCA359707071HCN1c.806T>A (p.Leu269Ter)
n.34T>A
5g.45645229A>CCA359707074HCN1c.805T>G (p.Leu269Val)
n.33T>G
COSMIC
5g.45645229A>GCA444260321HCN1c.805T>C (p.Leu269=)
n.33T>C
5g.45645229A>TCA359707075HCN1c.805T>A (p.Leu269Ile)
n.33T>A
5g.45645230T>ACA359707076HCN1c.804A>T (p.Leu268Phe)
n.32A>T
5g.45645230T>CCA444260324HCN1c.804A>G (p.Leu268=)
n.32A>G
dbSNP
5g.45645230T>GCA359707077HCN1c.804A>C (p.Leu268Phe)
n.32A>C
5g.45645230T=CA1543790295HCN1c.804A= (p.Leu268=)
n.32A=
5g.45645231A>CCA359707078HCN1c.803T>G (p.Leu268Ter)
n.31T>G
5g.45645231A>GCA359707079HCN1c.803T>C (p.Leu268Ser)
n.31T>C
COSMIC
5g.45645231A>TCA359707080HCN1c.803T>A (p.Leu268Ter)
n.31T>A
5g.45645233delCA2578305117HCN1c.803del (p.Leu268TyrfsTer7)
n.31del
5g.45645232A>CCA359707081HCN1c.802T>G (p.Leu268Val)
n.30T>G
5g.45645232A>GCA444401523HCN1c.802T>C (p.Leu268=)
n.30T>C
5g.45645232A>TCA359707082HCN1c.802T>A (p.Leu268Ile)
n.30T>A
5g.45645233A>CCA444401524HCN1c.801T>G (p.Arg267=)
n.29T>G
5g.45645233A>GCA444401525HCN1c.801T>C (p.Arg267=)
n.29T>C
gnomAD v4
5g.45645233A>TCA444401526HCN1c.801T>A (p.Arg267=)
n.29T>A
5g.45645234C>ACA359707083HCN1c.800G>T (p.Arg267Leu)
n.28G>T
COSMIC
5g.45645234C=CA1543790299HCN1c.800G= (p.Arg267=)
n.28G=
5g.45645234C>GCA359707084HCN1c.800G>C (p.Arg267Pro)
n.28G>C
dbSNP
5g.45645234C>TCA118324606HCN1c.800G>A (p.Arg267His)
n.28G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.45645235G>ACA359707085HCN1c.799C>T (p.Arg267Cys)
n.27C>T
gnomAD v4 COSMIC
5g.45645235G>CCA359707086HCN1c.799C>G (p.Arg267Gly)
n.27C>G
5g.45645235G>TCA359707087HCN1c.799C>A (p.Arg267Ser)
n.27C>A
5g.45645236C>ACA359707089HCN1c.798G>T (p.Leu266Phe)
n.26G>T
5g.45645236C>GCA359707088HCN1c.798G>C (p.Leu266Phe)
n.26G>C
5g.45645236C>TCA444401533HCN1c.798G>A (p.Leu266=)
n.26G>A
5g.45645237A>CCA359707090HCN1c.797T>G (p.Leu266Trp)
n.25T>G
5g.45645237A>GCA359707091HCN1c.797T>C (p.Leu266Ser)
n.25T>C
5g.45645237A>TCA359707092HCN1c.797T>A (p.Leu266Ter)
n.25T>A
5g.45645238A=CA1543790303HCN1c.796T= (p.Leu266=)
n.24T=
5g.45645238A>CCA359707093HCN1c.796T>G (p.Leu266Val)
n.24T>G
5g.45645238A>GCA3259416HCN1c.796T>C (p.Leu266=)
n.24T>C
dbSNP ExAC gnomAD v2 gnomAD v4
5g.45645238A>TCA359707094HCN1c.796T>A (p.Leu266Met)
n.24T>A
5g.45645239G>ACA444401537HCN1c.795C>T (p.Leu265=)
n.23C>T
dbSNP gnomAD v2 gnomAD v4
5g.45645239G>CCA444401539HCN1c.795C>G (p.Leu265=)
n.23C>G
5g.45645239G=CA1543790306HCN1c.795C= (p.Leu265=)
n.23C=
5g.45645239G>TCA3259417HCN1c.795C>A (p.Leu265=)
n.23C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.45645243_45645248delCA2673782208HCN1c.790_795del (p.Ser264_Leu265del)
n.18_23del
gnomAD v4
5g.45645240A>CCA359707095HCN1c.794T>G (p.Leu265Arg)
n.22T>G
5g.45645240A>GCA359707096HCN1c.794T>C (p.Leu265Pro)
n.22T>C
5g.45645240A>TCA359707097HCN1c.794T>A (p.Leu265His)
n.22T>A
ClinVar
5g.45645241G>ACA359707098HCN1c.793C>T (p.Leu265Phe)
n.21C>T
5g.45645241G>CCA359707099HCN1c.793C>G (p.Leu265Val)
n.21C>G
5g.45645241G=CA1543790313HCN1c.793C= (p.Leu265=)
n.21C=
5g.45645241G>TCA359707100HCN1c.793C>A (p.Leu265Ile)
n.21C>A
ClinVar dbSNP
5g.45645242A>CCA359707102HCN1c.792T>G (p.Ser264Arg)
n.20T>G
5g.45645242A>GCA444401542HCN1c.792T>C (p.Ser264=)
n.20T>C
gnomAD v4
5g.45645242A>TCA359707101HCN1c.792T>A (p.Ser264Arg)
n.20T>A
5g.45645243C>ACA359707103HCN1c.791G>T (p.Ser264Ile)
n.19G>T
5g.45645243C>GCA359707104HCN1c.791G>C (p.Ser264Thr)
n.19G>C
5g.45645243C>TCA359707105HCN1c.791G>A (p.Ser264Asn)
n.19G>A
5g.45645244T>ACA359707106HCN1c.790A>T (p.Ser264Cys)
n.18A>T
ClinVar dbSNP
5g.45645244T>CCA3259418HCN1c.790A>G (p.Ser264Gly)
n.18A>G
dbSNP ExAC gnomAD v2 gnomAD v4
5g.45645244T>GCA359707107HCN1c.790A>C (p.Ser264Arg)
n.18A>C
5g.45645244T=CA1543790322HCN1c.790A= (p.Ser264=)
n.18A=
5g.45645245G>ACA444401545HCN1c.789C>T (p.Leu263=)
n.17C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.45645245G>CCA444401546HCN1c.789C>G (p.Leu263=)
n.17C>G
5g.45645245G=CA1543790328HCN1c.789C= (p.Leu263=)
n.17C=
5g.45645245G>TCA444401548HCN1c.789C>A (p.Leu263=)
n.17C>A
5g.45645246A>CCA359707108HCN1c.788T>G (p.Leu263Arg)
n.16T>G
5g.45645246A>GCA359707109HCN1c.788T>C (p.Leu263Pro)
n.16T>C
5g.45645246A>TCA359707110HCN1c.788T>A (p.Leu263His)
n.16T>A
5g.45645247G>ACA359707111HCN1c.787C>T (p.Leu263Phe)
n.15C>T
5g.45645247G>CCA359707112HCN1c.787C>G (p.Leu263Val)
n.15C>G
5g.45645247G>TCA359707113HCN1c.787C>A (p.Leu263Ile)
n.15C>A
COSMIC
5g.45645248A>CCA359707114HCN1c.786T>G (p.Ile262Met)
n.14T>G
5g.45645248A>GCA444401559HCN1c.786T>C (p.Ile262=)
n.14T>C
5g.45645248A>TCA444401560HCN1c.786T>A (p.Ile262=)
n.14T>A
5g.45645249A>CCA359707117HCN1c.785T>G (p.Ile262Ser)
n.13T>G
5g.45645249A>GCA359707116HCN1c.785T>C (p.Ile262Thr)
n.13T>C
5g.45645249A>TCA359707115HCN1c.785T>A (p.Ile262Asn)
n.13T>A
5g.45645250T>ACA359707118HCN1c.784A>T (p.Ile262Phe)
n.12A>T
5g.45645250T>CCA359707119HCN1c.784A>G (p.Ile262Val)
n.12A>G
5g.45645250T>GCA359707120HCN1c.784A>C (p.Ile262Leu)
n.12A>C
5g.45645251T>ACA359707121HCN1c.783A>T (p.Lys261Asn)
n.11A>T
5g.45645251T>CCA444401565HCN1c.783A>G (p.Lys261=)
n.11A>G
5g.45645251T>GCA359707122HCN1c.783A>C (p.Lys261Asn)
n.11A>C
COSMIC
5g.45645252T>ACA359707123HCN1c.782A>T (p.Lys261Ile)
n.10A>T
5g.45645252T>CCA359707124HCN1c.782A>G (p.Lys261Arg)
n.10A>G
5g.45645252T>GCA359707125HCN1c.782A>C (p.Lys261Thr)
n.10A>C
5g.45645253T>ACA359707126HCN1c.781A>T (p.Lys261Ter)
n.9A>T
5g.45645253T>CCA359707127HCN1c.781A>G (p.Lys261Glu)
n.9A>G
ClinVar dbSNP
5g.45645253T>GCA359707128HCN1c.781A>C (p.Lys261Gln)
n.9A>C
5g.45645253T=CA1543790333HCN1c.781A= (p.Lys261=)
n.9A=
5g.45645254T>ACA444401578HCN1c.780A>T (p.Thr260=)
n.8A>T
5g.45645254T>CCA444401576HCN1c.780A>G (p.Thr260=)
n.8A>G
5g.45645254T>GCA444401575HCN1c.780A>C (p.Thr260=)
n.8A>C
5g.45645255G>ACA359707129HCN1c.779C>T (p.Thr260Ile)
n.7C>T
ClinVar
5g.45645255G>CCA359707130HCN1c.779C>G (p.Thr260Arg)
n.7C>G
5g.45645255G>TCA359707131HCN1c.779C>A (p.Thr260Lys)
n.7C>A
5g.45645256T>ACA359707133HCN1c.778A>T (p.Thr260Ser)
n.6A>T
5g.45645256T>CCA359707134HCN1c.778A>G (p.Thr260Ala)
n.6A>G
5g.45645256T>GCA359707132HCN1c.778A>C (p.Thr260Pro)
n.6A>C
5g.45645257A>CCA359707135HCN1c.777T>G (p.Phe259Leu)
n.5T>G
5g.45645257A>GCA444401583HCN1c.777T>C (p.Phe259=)
n.5T>C
5g.45645257A>TCA359707136HCN1c.777T>A (p.Phe259Leu)
n.5T>A
5g.45645258A>CCA359707137HCN1c.776T>G (p.Phe259Cys)
n.4T>G
5g.45645258A>GCA359707138HCN1c.776T>C (p.Phe259Ser)
n.4T>C
5g.45645258A>TCA359707139HCN1c.776T>A (p.Phe259Tyr)
n.4T>A
5g.45645259A>CCA359707140HCN1c.775T>G (p.Phe259Val)
n.3T>G
5g.45645259A>GCA359707141HCN1c.775T>C (p.Phe259Leu)
n.3T>C
5g.45645259A>TCA359707142HCN1c.775T>A (p.Phe259Ile)
n.3T>A
5g.45645260C>ACA359707143HCN1c.774G>T (p.Arg258Ser)
n.2G>T
5g.45645260C>GCA359707144HCN1c.774G>C (p.Arg258Ser)
n.2G>C
COSMIC
5g.45645260C>TCA444401591HCN1c.774G>A (p.Arg258=)
n.2G>A
gnomAD v4
5g.45645261C>ACA359707145HCN1c.773G>T (p.Arg258Met)
n.1G>T
5g.45645261C>GCA359707146HCN1c.773G>C (p.Arg258Thr)
n.1G>C
5g.45645261C>TCA359707147HCN1c.773G>A (p.Arg258Lys)
n.1G>A
5g.45645262T>ACA359707148HCN1c.772A>T (p.Arg258Trp)
5g.45645262T>CCA359707149HCN1c.772A>G (p.Arg258Gly)
5g.45645262T>GCA444401594HCN1c.772A>C (p.Arg258=)
gnomAD v4
5g.45645263C>ACA444401596HCN1c.771G>T (p.Val257=)
5g.45645263C>GCA444401599HCN1c.771G>C (p.Val257=)
5g.45645263C>TCA444401601HCN1c.771G>A (p.Val257=)
5g.45645264A>CCA359707150HCN1c.770T>G (p.Val257Gly)
5g.45645264A>GCA359707152HCN1c.770T>C (p.Val257Ala)
5g.45645264A>TCA359707151HCN1c.770T>A (p.Val257Glu)
5g.45645265C>ACA359707153HCN1c.769G>T (p.Val257Leu)
5g.45645265C>GCA359707154HCN1c.769G>C (p.Val257Leu)
COSMIC
5g.45645265C>TCA359707155HCN1c.769G>A (p.Val257Met)
5g.45645266A>CCA359707156HCN1c.768T>G (p.Ile256Met)
5g.45645266A>GCA444401604HCN1c.768T>C (p.Ile256=)
5g.45645266A>TCA444401607HCN1c.768T>A (p.Ile256=)
5g.45645267A>CCA359707157HCN1c.767T>G (p.Ile256Ser)
5g.45645267A>GCA359707158HCN1c.767T>C (p.Ile256Thr)
ClinVar
5g.45645267A>TCA359707159HCN1c.767T>A (p.Ile256Asn)
5g.45645268T>ACA359707160HCN1c.766A>T (p.Ile256Phe)
5g.45645268T>CCA359707161HCN1c.766A>G (p.Ile256Val)
5g.45645268T>GCA359707162HCN1c.766A>C (p.Ile256Leu)
5g.45645269G>ACA444401612HCN1c.765C>T (p.Arg255=)
dbSNP gnomAD v2 gnomAD v4
5g.45645269G>CCA444401614HCN1c.765C>G (p.Arg255=)
5g.45645269G=CA1543790339HCN1c.765C= (p.Arg255=)
5g.45645269G>TCA444401616HCN1c.765C>A (p.Arg255=)
5g.45645270C>ACA359707165HCN1c.764G>T (p.Arg255Leu)
5g.45645270C=CA1543790342HCN1c.764G= (p.Arg255=)
5g.45645270C>GCA359707164HCN1c.764G>C (p.Arg255Pro)
5g.45645270C>TCA359707163HCN1c.764G>A (p.Arg255His)
dbSNP gnomAD v4
5g.45645271G>ACA359707166HCN1c.763C>T (p.Arg255Cys)
ClinVar dbSNP COSMIC
5g.45645271G>CCA359707167HCN1c.763C>G (p.Arg255Gly)
5g.45645271G=CA1543790348HCN1c.763C= (p.Arg255=)
5g.45645271G>TCA359707168HCN1c.763C>A (p.Arg255Ser)
5g.45645272A>CCA444401620HCN1c.762T>G (p.Leu254=)
5g.45645272A>GCA444401622HCN1c.762T>C (p.Leu254=)
5g.45645272A>TCA444401624HCN1c.762T>A (p.Leu254=)
5g.45645273A>CCA359707169HCN1c.761T>G (p.Leu254Arg)
COSMIC
5g.45645273A>GCA359707170HCN1c.761T>C (p.Leu254Pro)
5g.45645273A>TCA359707171HCN1c.761T>A (p.Leu254His)
5g.45645274G>ACA359707172HCN1c.760C>T (p.Leu254Phe)
5g.45645274G>CCA359707173HCN1c.760C>G (p.Leu254Val)
COSMIC
5g.45645274G>TCA359707174HCN1c.760C>A (p.Leu254Ile)
5g.45645275T>ACA444401626HCN1c.759A>T (p.Ala253=)
5g.45645275T>CCA444401627HCN1c.759A>G (p.Ala253=)
5g.45645275T>GCA444401628HCN1c.759A>C (p.Ala253=)
5g.45645276G>ACA359707175HCN1c.758C>T (p.Ala253Val)
5g.45645276G>CCA359707176HCN1c.758C>G (p.Ala253Gly)
5g.45645276G>TCA359707177HCN1c.758C>A (p.Ala253Glu)
5g.45645277C>ACA359707180HCN1c.757G>T (p.Ala253Ser)
5g.45645277C>GCA359707179HCN1c.757G>C (p.Ala253Pro)
5g.45645277C>TCA359707178HCN1c.757G>A (p.Ala253Thr)
5g.45645278C>ACA359707181HCN1c.756G>T (p.Arg252Ser)
5g.45645278C=CA1543790352HCN1c.756G= (p.Arg252=)
5g.45645278C>GCA359707182HCN1c.756G>C (p.Arg252Ser)
5g.45645278C>TCA444401630HCN1c.756G>A (p.Arg252=)
dbSNP gnomAD v2 gnomAD v4
5g.45645279C>ACA359707183HCN1c.755G>T (p.Arg252Met)
5g.45645279C>GCA359707184HCN1c.755G>C (p.Arg252Thr)
5g.45645279C>TCA359707185HCN1c.755G>A (p.Arg252Lys)
5g.45645280T>ACA3259419HCN1c.754A>T (p.Arg252Trp)
dbSNP ExAC gnomAD v2
5g.45645280T>CCA359707186HCN1c.754A>G (p.Arg252Gly)
5g.45645280T>GCA444401634HCN1c.754A>C (p.Arg252=)
5g.45645280T=CA1543790356HCN1c.754A= (p.Arg252=)
5g.45645281G>ACA444401637HCN1c.753C>T (p.Ala251=)
5g.45645281G>CCA444401636HCN1c.753C>G (p.Ala251=)
5g.45645281G>TCA444401635HCN1c.753C>A (p.Ala251=)
5g.45645282G>ACA359707187HCN1c.752C>T (p.Ala251Val)
5g.45645282G>CCA359707188HCN1c.752C>G (p.Ala251Gly)
5g.45645282G>TCA359707189HCN1c.752C>A (p.Ala251Asp)
5g.45645283C>ACA359707190HCN1c.751G>T (p.Ala251Ser)
COSMIC
5g.45645283C>GCA359707191HCN1c.751G>C (p.Ala251Pro)
5g.45645283C>TCA359707192HCN1c.751G>A (p.Ala251Thr)
5g.45645284T>ACA444401639HCN1c.750A>T (p.Thr250=)
5g.45645284T>CCA444401640HCN1c.750A>G (p.Thr250=)
dbSNP gnomAD v4
5g.45645284T>GCA444401641HCN1c.750A>C (p.Thr250=)
5g.45645284T=CA1543790359HCN1c.750A= (p.Thr250=)
5g.45645285G>ACA359707194HCN1c.749C>T (p.Thr250Ile)
5g.45645285G>CCA359707195HCN1c.749C>G (p.Thr250Arg)
dbSNP gnomAD v2 gnomAD v4
5g.45645285G=CA1543790366HCN1c.749C= (p.Thr250=)
5g.45645285G>TCA359707193HCN1c.749C>A (p.Thr250Lys)
5g.45645286T>ACA359707198HCN1c.748A>T (p.Thr250Ser)
5g.45645286T>CCA359707196HCN1c.748A>G (p.Thr250Ala)
5g.45645286T>GCA359707197HCN1c.748A>C (p.Thr250Pro)
5g.45645287C>ACA359707199HCN1c.747G>T (p.Lys249Asn)
5g.45645287C=CA1543790370HCN1c.747G= (p.Lys249=)
5g.45645287C>GCA359707200HCN1c.747G>C (p.Lys249Asn)
ClinVar
5g.45645287C>TCA3259420HCN1c.747G>A (p.Lys249=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.45645288T>ACA359707201HCN1c.746A>T (p.Lys249Met)
5g.45645288T>CCA359707202HCN1c.746A>G (p.Lys249Arg)
gnomAD v4
5g.45645288T>GCA359707203HCN1c.746A>C (p.Lys249Thr)
5g.45645289T>ACA359707204HCN1c.745A>T (p.Lys249Ter)
5g.45645289T>CCA359707205HCN1c.745A>G (p.Lys249Glu)
5g.45645289T>GCA359707206HCN1c.745A>C (p.Lys249Gln)
5g.45645290G>ACA444401645HCN1c.744C>T (p.Tyr248=)
5g.45645290G>CCA359707207HCN1c.744C>G (p.Tyr248Ter)
5g.45645290G>TCA359707208HCN1c.744C>A (p.Tyr248Ter)
COSMIC
5g.45645291T>ACA359707211HCN1c.743A>T (p.Tyr248Phe)
COSMIC
5g.45645291T>CCA359707210HCN1c.743A>G (p.Tyr248Cys)
dbSNP
5g.45645291T>GCA359707209HCN1c.743A>C (p.Tyr248Ser)
5g.45645291T=CA1543790377HCN1c.743A= (p.Tyr248=)
5g.45645292A>CCA359707212HCN1c.742T>G (p.Tyr248Asp)
5g.45645292A>GCA359707213HCN1c.742T>C (p.Tyr248His)
5g.45645292A>TCA359707214HCN1c.742T>A (p.Tyr248Asn)
5g.45645293A>CCA444401650HCN1c.741T>G (p.Val247=)
5g.45645293A>GCA444401652HCN1c.741T>C (p.Val247=)
5g.45645293A>TCA444401651HCN1c.741T>A (p.Val247=)
5g.45645294A>CCA359707215HCN1c.740T>G (p.Val247Gly)
5g.45645294A>GCA359707216HCN1c.740T>C (p.Val247Ala)
5g.45645294A>TCA359707217HCN1c.740T>A (p.Val247Asp)
5g.45645295C>ACA359707218HCN1c.739G>T (p.Val247Phe)
5g.45645295C>GCA359707219HCN1c.739G>C (p.Val247Leu)
5g.45645295C>TCA359707220HCN1c.739G>A (p.Val247Ile)
5g.45645296T>ACA359707221HCN1c.738A>T (p.Glu246Asp)
5g.45645296T>CCA444401658HCN1c.738A>G (p.Glu246=)
dbSNP
5g.45645296T>GCA359707222HCN1c.738A>C (p.Glu246Asp)
5g.45645297T>ACA359707223HCN1c.737A>T (p.Glu246Val)
5g.45645297T>CCA359707224HCN1c.737A>G (p.Glu246Gly)
5g.45645297T>GCA359707225HCN1c.737A>C (p.Glu246Ala)
ClinVar dbSNP
5g.45645298C>ACA359707227HCN1c.736G>T (p.Glu246Ter)
COSMIC
5g.45645298C>GCA359707228HCN1c.736G>C (p.Glu246Gln)
5g.45645298C>TCA359707226HCN1c.736G>A (p.Glu246Lys)
COSMIC
5g.45645299A>CCA444401662HCN1c.735T>G (p.Ser245=)
5g.45645299A>GCA444401664HCN1c.735T>C (p.Ser245=)
5g.45645299A>TCA444401665HCN1c.735T>A (p.Ser245=)

Number of alleles fetched