Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.37490339G>ACA409947649DYRK1Ac.829G>A (p.Ala277Thr)
c.715G>A (p.Ala239Thr)
c.802G>A (p.Ala268Thr)
n.632G>A
n.193G>A
c.850G>A (p.Ala284Thr)
n.244G>A
c.742G>A (p.Ala248Thr)
c.145G>A (p.Ala49Thr)
c.823G>A (p.Ala275Thr)
21g.37490339G>CCA16621000DYRK1Ac.829G>C (p.Ala277Pro)
c.715G>C (p.Ala239Pro)
c.802G>C (p.Ala268Pro)
n.632G>C
n.193G>C
c.850G>C (p.Ala284Pro)
n.244G>C
c.742G>C (p.Ala248Pro)
c.145G>C (p.Ala49Pro)
c.823G>C (p.Ala275Pro)
 ClinVar dbSNP
21g.37490339G=CA2388495782DYRK1Ac.829G= (p.Ala277=)
c.715G= (p.Ala239=)
c.802G= (p.Ala268=)
n.632G=
n.193G=
c.850G= (p.Ala284=)
n.244G=
c.742G= (p.Ala248=)
c.145G= (p.Ala49=)
c.823G= (p.Ala275=)
21g.37490339G>TCA409947650DYRK1Ac.829G>T (p.Ala277Ser)
c.715G>T (p.Ala239Ser)
c.802G>T (p.Ala268Ser)
n.632G>T
n.193G>T
c.850G>T (p.Ala284Ser)
n.244G>T
c.742G>T (p.Ala248Ser)
c.145G>T (p.Ala49Ser)
c.823G>T (p.Ala275Ser)
21g.37490339_37490340delinsGCCA2388495783DYRK1Ac.829_830delinsGC (p.Ala277=)
c.715_716delinsGC (p.Ala239=)
c.802_803delinsGC (p.Ala268=)
n.632_633delinsGC
n.193_194delinsGC
c.850_851delinsGC (p.Ala284=)
n.244_245delinsGC
c.742_743delinsGC (p.Ala248=)
c.145_146delinsGC (p.Ala49=)
c.823_824delinsGC (p.Ala275=)
21g.37490340delCA658799440DYRK1Ac.830del (p.Ala277GlyfsTer12)
c.716del (p.Ala239GlyfsTer12)
c.803del (p.Ala268GlyfsTer12)
n.633del
n.194del
c.851del (p.Ala284GlyfsTer12)
n.245del
c.743del (p.Ala248GlyfsTer12)
c.146del (p.Ala49GlyfsTer12)
c.824del (p.Ala275GlyfsTer12)
 ClinVar dbSNP
21g.37490340C>ACA409947651DYRK1Ac.830C>A (p.Ala277Glu)
c.716C>A (p.Ala239Glu)
c.803C>A (p.Ala268Glu)
n.633C>A
n.194C>A
c.851C>A (p.Ala284Glu)
n.245C>A
c.743C>A (p.Ala248Glu)
c.146C>A (p.Ala49Glu)
c.824C>A (p.Ala275Glu)
21g.37490340C=CA2388495784DYRK1Ac.830C= (p.Ala277=)
c.716C= (p.Ala239=)
c.803C= (p.Ala268=)
n.633C=
n.194C=
c.851C= (p.Ala284=)
n.245C=
c.743C= (p.Ala248=)
c.146C= (p.Ala49=)
c.824C= (p.Ala275=)
21g.37490340C>GCA409947652DYRK1Ac.830C>G (p.Ala277Gly)
c.716C>G (p.Ala239Gly)
c.803C>G (p.Ala268Gly)
n.633C>G
n.194C>G
c.851C>G (p.Ala284Gly)
n.245C>G
c.743C>G (p.Ala248Gly)
c.146C>G (p.Ala49Gly)
c.824C>G (p.Ala275Gly)
21g.37490340C>TCA409947653DYRK1Ac.830C>T (p.Ala277Val)
c.716C>T (p.Ala239Val)
c.803C>T (p.Ala268Val)
n.633C>T
n.194C>T
c.851C>T (p.Ala284Val)
n.245C>T
c.743C>T (p.Ala248Val)
c.146C>T (p.Ala49Val)
c.824C>T (p.Ala275Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
21g.37490341G>ACA10023855DYRK1Ac.831G>A (p.Ala277=)
c.717G>A (p.Ala239=)
c.804G>A (p.Ala268=)
n.634G>A
n.195G>A
c.852G>A (p.Ala284=)
n.246G>A
c.744G>A (p.Ala248=)
c.147G>A (p.Ala49=)
c.825G>A (p.Ala275=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.37490341G>CCA512327810DYRK1Ac.831G>C (p.Ala277=)
c.717G>C (p.Ala239=)
c.804G>C (p.Ala268=)
n.634G>C
n.195G>C
c.852G>C (p.Ala284=)
n.246G>C
c.744G>C (p.Ala248=)
c.147G>C (p.Ala49=)
c.825G>C (p.Ala275=)
21g.37490341G=CA2388495785DYRK1Ac.831G= (p.Ala277=)
c.717G= (p.Ala239=)
c.804G= (p.Ala268=)
n.634G=
n.195G=
c.852G= (p.Ala284=)
n.246G=
c.744G= (p.Ala248=)
c.147G= (p.Ala49=)
c.825G= (p.Ala275=)
21g.37490341G>TCA512327811DYRK1Ac.831G>T (p.Ala277=)
c.717G>T (p.Ala239=)
c.804G>T (p.Ala268=)
n.634G>T
n.195G>T
c.852G>T (p.Ala284=)
n.246G>T
c.744G>T (p.Ala248=)
c.147G>T (p.Ala49=)
c.825G>T (p.Ala275=)
21g.37490342A>CCA409947654DYRK1Ac.832A>C (p.Thr278Pro)
c.718A>C (p.Thr240Pro)
c.805A>C (p.Thr269Pro)
n.635A>C
n.196A>C
c.853A>C (p.Thr285Pro)
n.247A>C
c.745A>C (p.Thr249Pro)
c.148A>C (p.Thr50Pro)
c.826A>C (p.Thr276Pro)
21g.37490342A>GCA409947655DYRK1Ac.832A>G (p.Thr278Ala)
c.718A>G (p.Thr240Ala)
c.805A>G (p.Thr269Ala)
n.635A>G
n.196A>G
c.853A>G (p.Thr285Ala)
n.247A>G
c.745A>G (p.Thr249Ala)
c.148A>G (p.Thr50Ala)
c.826A>G (p.Thr276Ala)
21g.37490342A>TCA409947656DYRK1Ac.832A>T (p.Thr278Ser)
c.718A>T (p.Thr240Ser)
c.805A>T (p.Thr269Ser)
n.635A>T
n.196A>T
c.853A>T (p.Thr285Ser)
n.247A>T
c.745A>T (p.Thr249Ser)
c.148A>T (p.Thr50Ser)
c.826A>T (p.Thr276Ser)
21g.37490343C>ACA409947657DYRK1Ac.833C>A (p.Thr278Asn)
c.719C>A (p.Thr240Asn)
c.806C>A (p.Thr269Asn)
n.636C>A
n.197C>A
c.854C>A (p.Thr285Asn)
n.248C>A
c.746C>A (p.Thr249Asn)
c.149C>A (p.Thr50Asn)
c.827C>A (p.Thr276Asn)
21g.37490343C>GCA409947658DYRK1Ac.833C>G (p.Thr278Ser)
c.719C>G (p.Thr240Ser)
c.806C>G (p.Thr269Ser)
n.636C>G
n.197C>G
c.854C>G (p.Thr285Ser)
n.248C>G
c.746C>G (p.Thr249Ser)
c.149C>G (p.Thr50Ser)
c.827C>G (p.Thr276Ser)
21g.37490343C>TCA409947659DYRK1Ac.833C>T (p.Thr278Ile)
c.719C>T (p.Thr240Ile)
c.806C>T (p.Thr269Ile)
n.636C>T
n.197C>T
c.854C>T (p.Thr285Ile)
n.248C>T
c.746C>T (p.Thr249Ile)
c.149C>T (p.Thr50Ile)
c.827C>T (p.Thr276Ile)
21g.37490344T>ACA512327813DYRK1Ac.834T>A (p.Thr278=)
c.720T>A (p.Thr240=)
c.807T>A (p.Thr269=)
n.637T>A
n.198T>A
c.855T>A (p.Thr285=)
n.249T>A
c.747T>A (p.Thr249=)
c.150T>A (p.Thr50=)
c.828T>A (p.Thr276=)
21g.37490344T>CCA512327816DYRK1Ac.834T>C (p.Thr278=)
c.720T>C (p.Thr240=)
c.807T>C (p.Thr269=)
n.637T>C
n.198T>C
c.855T>C (p.Thr285=)
n.249T>C
c.747T>C (p.Thr249=)
c.150T>C (p.Thr50=)
c.828T>C (p.Thr276=)
 gnomAD v4 COSMIC
21g.37490344T>GCA512327814DYRK1Ac.834T>G (p.Thr278=)
c.720T>G (p.Thr240=)
c.807T>G (p.Thr269=)
n.637T>G
n.198T>G
c.855T>G (p.Thr285=)
n.249T>G
c.747T>G (p.Thr249=)
c.150T>G (p.Thr50=)
c.828T>G (p.Thr276=)
21g.37490345C>ACA409947660DYRK1Ac.835C>A (p.Pro279Thr)
c.721C>A (p.Pro241Thr)
c.808C>A (p.Pro270Thr)
n.638C>A
n.199C>A
c.856C>A (p.Pro286Thr)
n.250C>A
c.748C>A (p.Pro250Thr)
c.151C>A (p.Pro51Thr)
c.829C>A (p.Pro277Thr)
21g.37490345C>GCA409947661DYRK1Ac.835C>G (p.Pro279Ala)
c.721C>G (p.Pro241Ala)
c.808C>G (p.Pro270Ala)
n.638C>G
n.199C>G
c.856C>G (p.Pro286Ala)
n.250C>G
c.748C>G (p.Pro250Ala)
c.151C>G (p.Pro51Ala)
c.829C>G (p.Pro277Ala)
21g.37490345C>TCA409947662DYRK1Ac.835C>T (p.Pro279Ser)
c.721C>T (p.Pro241Ser)
c.808C>T (p.Pro270Ser)
n.638C>T
n.199C>T
c.856C>T (p.Pro286Ser)
n.250C>T
c.748C>T (p.Pro250Ser)
c.151C>T (p.Pro51Ser)
c.829C>T (p.Pro277Ser)
21g.37490346C>ACA409947663DYRK1Ac.836C>A (p.Pro279Gln)
c.722C>A (p.Pro241Gln)
c.809C>A (p.Pro270Gln)
n.639C>A
n.200C>A
c.857C>A (p.Pro286Gln)
n.251C>A
c.749C>A (p.Pro250Gln)
c.152C>A (p.Pro51Gln)
c.830C>A (p.Pro277Gln)
21g.37490346C>GCA409947664DYRK1Ac.836C>G (p.Pro279Arg)
c.722C>G (p.Pro241Arg)
c.809C>G (p.Pro270Arg)
n.639C>G
n.200C>G
c.857C>G (p.Pro286Arg)
n.251C>G
c.749C>G (p.Pro250Arg)
c.152C>G (p.Pro51Arg)
c.830C>G (p.Pro277Arg)
 COSMIC
21g.37490346C>TCA409947665DYRK1Ac.836C>T (p.Pro279Leu)
c.722C>T (p.Pro241Leu)
c.809C>T (p.Pro270Leu)
n.639C>T
n.200C>T
c.857C>T (p.Pro286Leu)
n.251C>T
c.749C>T (p.Pro250Leu)
c.152C>T (p.Pro51Leu)
c.830C>T (p.Pro277Leu)
21g.37490347A>CCA512327820DYRK1Ac.837A>C (p.Pro279=)
c.723A>C (p.Pro241=)
c.810A>C (p.Pro270=)
n.640A>C
n.201A>C
c.858A>C (p.Pro286=)
n.252A>C
c.750A>C (p.Pro250=)
c.153A>C (p.Pro51=)
c.831A>C (p.Pro277=)
21g.37490347A>GCA512327818DYRK1Ac.837A>G (p.Pro279=)
c.723A>G (p.Pro241=)
c.810A>G (p.Pro270=)
n.640A>G
n.201A>G
c.858A>G (p.Pro286=)
n.252A>G
c.750A>G (p.Pro250=)
c.153A>G (p.Pro51=)
c.831A>G (p.Pro277=)
 gnomAD v4
21g.37490347A>TCA512327819DYRK1Ac.837A>T (p.Pro279=)
c.723A>T (p.Pro241=)
c.810A>T (p.Pro270=)
n.640A>T
n.201A>T
c.858A>T (p.Pro286=)
n.252A>T
c.750A>T (p.Pro250=)
c.153A>T (p.Pro51=)
c.831A>T (p.Pro277=)
21g.37490348G>ACA409947666DYRK1Ac.838G>A (p.Glu280Lys)
c.724G>A (p.Glu242Lys)
c.811G>A (p.Glu271Lys)
n.641G>A
n.202G>A
c.859G>A (p.Glu287Lys)
n.253G>A
c.751G>A (p.Glu251Lys)
c.154G>A (p.Glu52Lys)
c.832G>A (p.Glu278Lys)
21g.37490348G>CCA409947668DYRK1Ac.838G>C (p.Glu280Gln)
c.724G>C (p.Glu242Gln)
c.811G>C (p.Glu271Gln)
n.641G>C
n.202G>C
c.859G>C (p.Glu287Gln)
n.253G>C
c.751G>C (p.Glu251Gln)
c.154G>C (p.Glu52Gln)
c.832G>C (p.Glu278Gln)
 COSMIC
21g.37490348G=CA2388495786DYRK1Ac.838G= (p.Glu280=)
c.724G= (p.Glu242=)
c.811G= (p.Glu271=)
n.641G=
n.202G=
c.859G= (p.Glu287=)
n.253G=
c.751G= (p.Glu251=)
c.154G= (p.Glu52=)
c.832G= (p.Glu278=)
21g.37490348G>TCA409947667DYRK1Ac.838G>T (p.Glu280Ter)
c.724G>T (p.Glu242Ter)
c.811G>T (p.Glu271Ter)
n.641G>T
n.202G>T
c.859G>T (p.Glu287Ter)
n.253G>T
c.751G>T (p.Glu251Ter)
c.154G>T (p.Glu52Ter)
c.832G>T (p.Glu278Ter)
 dbSNP
21g.37490349A>CCA409947669DYRK1Ac.839A>C (p.Glu280Ala)
c.725A>C (p.Glu242Ala)
c.812A>C (p.Glu271Ala)
n.642A>C
n.203A>C
c.860A>C (p.Glu287Ala)
n.254A>C
c.752A>C (p.Glu251Ala)
c.155A>C (p.Glu52Ala)
c.833A>C (p.Glu278Ala)
21g.37490349A>GCA409947670DYRK1Ac.839A>G (p.Glu280Gly)
c.725A>G (p.Glu242Gly)
c.812A>G (p.Glu271Gly)
n.642A>G
n.203A>G
c.860A>G (p.Glu287Gly)
n.254A>G
c.752A>G (p.Glu251Gly)
c.155A>G (p.Glu52Gly)
c.833A>G (p.Glu278Gly)
21g.37490349A>TCA409947671DYRK1Ac.839A>T (p.Glu280Val)
c.725A>T (p.Glu242Val)
c.812A>T (p.Glu271Val)
n.642A>T
n.203A>T
c.860A>T (p.Glu287Val)
n.254A>T
c.752A>T (p.Glu251Val)
c.155A>T (p.Glu52Val)
c.833A>T (p.Glu278Val)
21g.37490350A=CA2388495787DYRK1Ac.840A= (p.Glu280=)
c.726A= (p.Glu242=)
c.813A= (p.Glu271=)
n.643A=
n.204A=
c.861A= (p.Glu287=)
n.255A=
c.753A= (p.Glu251=)
c.156A= (p.Glu52=)
c.834A= (p.Glu278=)
21g.37490350A>CCA409947672DYRK1Ac.840A>C (p.Glu280Asp)
c.726A>C (p.Glu242Asp)
c.813A>C (p.Glu271Asp)
n.643A>C
n.204A>C
c.861A>C (p.Glu287Asp)
n.255A>C
c.753A>C (p.Glu251Asp)
c.156A>C (p.Glu52Asp)
c.834A>C (p.Glu278Asp)
21g.37490350A>GCA512327822DYRK1Ac.840A>G (p.Glu280=)
c.726A>G (p.Glu242=)
c.813A>G (p.Glu271=)
n.643A>G
n.204A>G
c.861A>G (p.Glu287=)
n.255A>G
c.753A>G (p.Glu251=)
c.156A>G (p.Glu52=)
c.834A>G (p.Glu278=)
21g.37490350A>TCA409947673DYRK1Ac.840A>T (p.Glu280Asp)
c.726A>T (p.Glu242Asp)
c.813A>T (p.Glu271Asp)
n.643A>T
n.204A>T
c.861A>T (p.Glu287Asp)
n.255A>T
c.753A>T (p.Glu251Asp)
c.156A>T (p.Glu52Asp)
c.834A>T (p.Glu278Asp)
21g.37490351C>ACA409947674DYRK1Ac.841C>A (p.Leu281Ile)
c.727C>A (p.Leu243Ile)
c.814C>A (p.Leu272Ile)
n.644C>A
n.205C>A
c.862C>A (p.Leu288Ile)
n.256C>A
c.754C>A (p.Leu252Ile)
c.157C>A (p.Leu53Ile)
c.835C>A (p.Leu279Ile)
21g.37490351C=CA2388495788DYRK1Ac.841C= (p.Leu281=)
c.727C= (p.Leu243=)
c.814C= (p.Leu272=)
n.644C=
n.205C=
c.862C= (p.Leu288=)
n.256C=
c.754C= (p.Leu252=)
c.157C= (p.Leu53=)
c.835C= (p.Leu279=)
21g.37490351C>GCA409947675DYRK1Ac.841C>G (p.Leu281Val)
c.727C>G (p.Leu243Val)
c.814C>G (p.Leu272Val)
n.644C>G
n.205C>G
c.862C>G (p.Leu288Val)
n.256C>G
c.754C>G (p.Leu252Val)
c.157C>G (p.Leu53Val)
c.835C>G (p.Leu279Val)
21g.37490351C>TCA409947676DYRK1Ac.841C>T (p.Leu281Phe)
c.727C>T (p.Leu243Phe)
c.814C>T (p.Leu272Phe)
n.644C>T
n.205C>T
c.862C>T (p.Leu288Phe)
n.256C>T
c.754C>T (p.Leu252Phe)
c.157C>T (p.Leu53Phe)
c.835C>T (p.Leu279Phe)
 dbSNP gnomAD v3 gnomAD v4
21g.37490351dupCA915952629DYRK1Ac.841dup (p.Leu281ProfsTer2)
c.727dup (p.Leu243ProfsTer2)
c.814dup (p.Leu272ProfsTer2)
n.644dup
n.205dup
c.862dup (p.Leu288ProfsTer2)
n.256dup
c.754dup (p.Leu252ProfsTer2)
c.157dup (p.Leu53ProfsTer2)
c.835dup (p.Leu279ProfsTer2)
 ClinVar dbSNP
21g.37490351_37490353dupCA2739289566DYRK1Ac.841_843dup (p.Leu281_Ser282insLeu)
c.727_729dup (p.Leu243_Ser244insLeu)
c.814_816dup (p.Leu272_Ser273insLeu)
n.644_646dup
n.205_207dup
c.862_864dup (p.Leu288_Ser289insLeu)
n.256_258dup
c.754_756dup (p.Leu252_Ser253insLeu)
c.157_159dup (p.Leu53_Ser54insLeu)
c.835_837dup (p.Leu279_Ser280insLeu)
21g.37490352T>ACA409947677DYRK1Ac.842T>A (p.Leu281His)
c.728T>A (p.Leu243His)
c.815T>A (p.Leu272His)
n.645T>A
n.206T>A
c.863T>A (p.Leu288His)
n.257T>A
c.755T>A (p.Leu252His)
c.158T>A (p.Leu53His)
c.836T>A (p.Leu279His)
 dbSNP
21g.37490352T>CCA409947678DYRK1Ac.842T>C (p.Leu281Pro)
c.728T>C (p.Leu243Pro)
c.815T>C (p.Leu272Pro)
n.645T>C
n.206T>C
c.863T>C (p.Leu288Pro)
n.257T>C
c.755T>C (p.Leu252Pro)
c.158T>C (p.Leu53Pro)
c.836T>C (p.Leu279Pro)
21g.37490352T>GCA409947679DYRK1Ac.842T>G (p.Leu281Arg)
c.728T>G (p.Leu243Arg)
c.815T>G (p.Leu272Arg)
n.645T>G
n.206T>G
c.863T>G (p.Leu288Arg)
n.257T>G
c.755T>G (p.Leu252Arg)
c.158T>G (p.Leu53Arg)
c.836T>G (p.Leu279Arg)
21g.37490352T=CA2388495789DYRK1Ac.842T= (p.Leu281=)
c.728T= (p.Leu243=)
c.815T= (p.Leu272=)
n.645T=
n.206T=
c.863T= (p.Leu288=)
n.257T=
c.755T= (p.Leu252=)
c.158T= (p.Leu53=)
c.836T= (p.Leu279=)
21g.37490353T>ACA10023857DYRK1Ac.843T>A (p.Leu281=)
c.729T>A (p.Leu243=)
c.816T>A (p.Leu272=)
n.646T>A
n.207T>A
c.864T>A (p.Leu288=)
n.258T>A
c.756T>A (p.Leu252=)
c.159T>A (p.Leu53=)
c.837T>A (p.Leu279=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37490353T>CCA512327826DYRK1Ac.843T>C (p.Leu281=)
c.729T>C (p.Leu243=)
c.816T>C (p.Leu272=)
n.646T>C
n.207T>C
c.864T>C (p.Leu288=)
n.258T>C
c.756T>C (p.Leu252=)
c.159T>C (p.Leu53=)
c.837T>C (p.Leu279=)
 ClinVar dbSNP gnomAD v4
21g.37490353T>GCA10023856DYRK1Ac.843T>G (p.Leu281=)
c.729T>G (p.Leu243=)
c.816T>G (p.Leu272=)
n.646T>G
n.207T>G
c.864T>G (p.Leu288=)
n.258T>G
c.756T>G (p.Leu252=)
c.159T>G (p.Leu53=)
c.837T>G (p.Leu279=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.37490353T=CA2388495790DYRK1Ac.843T= (p.Leu281=)
c.729T= (p.Leu243=)
c.816T= (p.Leu272=)
n.646T=
n.207T=
c.864T= (p.Leu288=)
n.258T=
c.756T= (p.Leu252=)
c.159T= (p.Leu53=)
c.837T= (p.Leu279=)
21g.37490354A>CCA409947680DYRK1Ac.844A>C (p.Ser282Arg)
c.730A>C (p.Ser244Arg)
c.817A>C (p.Ser273Arg)
n.647A>C
n.208A>C
c.865A>C (p.Ser289Arg)
n.259A>C
c.757A>C (p.Ser253Arg)
c.160A>C (p.Ser54Arg)
c.838A>C (p.Ser280Arg)
21g.37490354A>GCA409947681DYRK1Ac.844A>G (p.Ser282Gly)
c.730A>G (p.Ser244Gly)
c.817A>G (p.Ser273Gly)
n.647A>G
n.208A>G
c.865A>G (p.Ser289Gly)
n.259A>G
c.757A>G (p.Ser253Gly)
c.160A>G (p.Ser54Gly)
c.838A>G (p.Ser280Gly)
 gnomAD v4
21g.37490354A>TCA409947682DYRK1Ac.844A>T (p.Ser282Cys)
c.730A>T (p.Ser244Cys)
c.817A>T (p.Ser273Cys)
n.647A>T
n.208A>T
c.865A>T (p.Ser289Cys)
n.259A>T
c.757A>T (p.Ser253Cys)
c.160A>T (p.Ser54Cys)
c.838A>T (p.Ser280Cys)
21g.37490354dupCA278456DYRK1Ac.844dup (p.Ser282LysfsTer6)
c.730dup (p.Ser244LysfsTer6)
c.817dup (p.Ser273LysfsTer6)
n.647dup
n.208dup
c.865dup (p.Ser289LysfsTer6)
n.259dup
c.757dup (p.Ser253LysfsTer6)
c.160dup (p.Ser54LysfsTer6)
c.838dup (p.Ser280LysfsTer6)
 ClinVar dbSNP
21g.37490355G>ACA10023858DYRK1Ac.845G>A (p.Ser282Asn)
c.731G>A (p.Ser244Asn)
c.818G>A (p.Ser273Asn)
n.648G>A
n.209G>A
c.866G>A (p.Ser289Asn)
n.260G>A
c.758G>A (p.Ser253Asn)
c.161G>A (p.Ser54Asn)
c.839G>A (p.Ser280Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37490355G>CCA409947683DYRK1Ac.845G>C (p.Ser282Thr)
c.731G>C (p.Ser244Thr)
c.818G>C (p.Ser273Thr)
n.648G>C
n.209G>C
c.866G>C (p.Ser289Thr)
n.260G>C
c.758G>C (p.Ser253Thr)
c.161G>C (p.Ser54Thr)
c.839G>C (p.Ser280Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.37490355G=CA2388495791DYRK1Ac.845G= (p.Ser282=)
c.731G= (p.Ser244=)
c.818G= (p.Ser273=)
n.648G=
n.209G=
c.866G= (p.Ser289=)
n.260G=
c.758G= (p.Ser253=)
c.161G= (p.Ser54=)
c.839G= (p.Ser280=)
21g.37490355G>TCA409947684DYRK1Ac.845G>T (p.Ser282Ile)
c.731G>T (p.Ser244Ile)
c.818G>T (p.Ser273Ile)
n.648G>T
n.209G>T
c.866G>T (p.Ser289Ile)
n.260G>T
c.758G>T (p.Ser253Ile)
c.161G>T (p.Ser54Ile)
c.839G>T (p.Ser280Ile)
21g.37490356T>ACA409947685DYRK1Ac.846T>A (p.Ser282Arg)
c.732T>A (p.Ser244Arg)
c.819T>A (p.Ser273Arg)
n.649T>A
n.210T>A
c.867T>A (p.Ser289Arg)
n.261T>A
c.759T>A (p.Ser253Arg)
c.162T>A (p.Ser54Arg)
c.840T>A (p.Ser280Arg)
21g.37490356T>CCA512327828DYRK1Ac.846T>C (p.Ser282=)
c.732T>C (p.Ser244=)
c.819T>C (p.Ser273=)
n.649T>C
n.210T>C
c.867T>C (p.Ser289=)
n.261T>C
c.759T>C (p.Ser253=)
c.162T>C (p.Ser54=)
c.840T>C (p.Ser280=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
21g.37490356T>GCA409947686DYRK1Ac.846T>G (p.Ser282Arg)
c.732T>G (p.Ser244Arg)
c.819T>G (p.Ser273Arg)
n.649T>G
n.210T>G
c.867T>G (p.Ser289Arg)
n.261T>G
c.759T>G (p.Ser253Arg)
c.162T>G (p.Ser54Arg)
c.840T>G (p.Ser280Arg)
21g.37490356T=CA2388495792DYRK1Ac.846T= (p.Ser282=)
c.732T= (p.Ser244=)
c.819T= (p.Ser273=)
n.649T=
n.210T=
c.867T= (p.Ser289=)
n.261T=
c.759T= (p.Ser253=)
c.162T= (p.Ser54=)
c.840T= (p.Ser280=)
21g.37490357A=CA2388495793DYRK1Ac.847A= (p.Ile283=)
c.733A= (p.Ile245=)
c.820A= (p.Ile274=)
n.650A=
n.211A=
c.868A= (p.Ile290=)
n.262A=
c.760A= (p.Ile254=)
c.163A= (p.Ile55=)
c.841A= (p.Ile281=)
21g.37490357A>CCA409947687DYRK1Ac.847A>C (p.Ile283Leu)
c.733A>C (p.Ile245Leu)
c.820A>C (p.Ile274Leu)
n.650A>C
n.211A>C
c.868A>C (p.Ile290Leu)
n.262A>C
c.760A>C (p.Ile254Leu)
c.163A>C (p.Ile55Leu)
c.841A>C (p.Ile281Leu)
21g.37490357A>GCA10023859DYRK1Ac.847A>G (p.Ile283Val)
c.733A>G (p.Ile245Val)
c.820A>G (p.Ile274Val)
n.650A>G
n.211A>G
c.868A>G (p.Ile290Val)
n.262A>G
c.760A>G (p.Ile254Val)
c.163A>G (p.Ile55Val)
c.841A>G (p.Ile281Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.37490357A>TCA409947688DYRK1Ac.847A>T (p.Ile283Phe)
c.733A>T (p.Ile245Phe)
c.820A>T (p.Ile274Phe)
n.650A>T
n.211A>T
c.868A>T (p.Ile290Phe)
n.262A>T
c.760A>T (p.Ile254Phe)
c.163A>T (p.Ile55Phe)
c.841A>T (p.Ile281Phe)
21g.37490358T>ACA409947690DYRK1Ac.848T>A (p.Ile283Asn)
c.734T>A (p.Ile245Asn)
c.821T>A (p.Ile274Asn)
n.651T>A
n.212T>A
c.869T>A (p.Ile290Asn)
n.263T>A
c.761T>A (p.Ile254Asn)
c.164T>A (p.Ile55Asn)
c.842T>A (p.Ile281Asn)
21g.37490358T>CCA409947691DYRK1Ac.848T>C (p.Ile283Thr)
c.734T>C (p.Ile245Thr)
c.821T>C (p.Ile274Thr)
n.651T>C
n.212T>C
c.869T>C (p.Ile290Thr)
n.263T>C
c.761T>C (p.Ile254Thr)
c.164T>C (p.Ile55Thr)
c.842T>C (p.Ile281Thr)
21g.37490358T>GCA409947689DYRK1Ac.848T>G (p.Ile283Ser)
c.734T>G (p.Ile245Ser)
c.821T>G (p.Ile274Ser)
n.651T>G
n.212T>G
c.869T>G (p.Ile290Ser)
n.263T>G
c.761T>G (p.Ile254Ser)
c.164T>G (p.Ile55Ser)
c.842T>G (p.Ile281Ser)
 ClinVar
21g.37490359C>ACA512327830DYRK1Ac.849C>A (p.Ile283=)
c.735C>A (p.Ile245=)
c.822C>A (p.Ile274=)
n.652C>A
n.213C>A
c.870C>A (p.Ile290=)
n.264C>A
c.762C>A (p.Ile254=)
c.165C>A (p.Ile55=)
c.843C>A (p.Ile281=)
21g.37490359C=CA2388495794DYRK1Ac.849C= (p.Ile283=)
c.735C= (p.Ile245=)
c.822C= (p.Ile274=)
n.652C=
n.213C=
c.870C= (p.Ile290=)
n.264C=
c.762C= (p.Ile254=)
c.165C= (p.Ile55=)
c.843C= (p.Ile281=)
21g.37490359C>GCA409947692DYRK1Ac.849C>G (p.Ile283Met)
c.735C>G (p.Ile245Met)
c.822C>G (p.Ile274Met)
n.652C>G
n.213C>G
c.870C>G (p.Ile290Met)
n.264C>G
c.762C>G (p.Ile254Met)
c.165C>G (p.Ile55Met)
c.843C>G (p.Ile281Met)
21g.37490359C>TCA10023860DYRK1Ac.849C>T (p.Ile283=)
c.735C>T (p.Ile245=)
c.822C>T (p.Ile274=)
n.652C>T
n.213C>T
c.870C>T (p.Ile290=)
n.264C>T
c.762C>T (p.Ile254=)
c.165C>T (p.Ile55=)
c.843C>T (p.Ile281=)
 dbSNP ExAC gnomAD v4
21g.37490359dupCA2580617637DYRK1Ac.849dup (p.Ile284HisfsTer4)
c.735dup (p.Ile246HisfsTer4)
c.822dup (p.Ile275HisfsTer4)
n.652dup
n.213dup
c.870dup (p.Ile291HisfsTer4)
n.264dup
c.762dup (p.Ile255HisfsTer4)
c.165dup (p.Ile56HisfsTer4)
c.843dup (p.Ile282HisfsTer4)
 ClinVar
21g.37490360A>CCA409947693DYRK1Ac.850A>C (p.Ile284Leu)
c.736A>C (p.Ile246Leu)
c.823A>C (p.Ile275Leu)
n.653A>C
n.214A>C
c.871A>C (p.Ile291Leu)
n.265A>C
c.763A>C (p.Ile255Leu)
c.166A>C (p.Ile56Leu)
c.844A>C (p.Ile282Leu)
21g.37490360A>GCA409947694DYRK1Ac.850A>G (p.Ile284Val)
c.736A>G (p.Ile246Val)
c.823A>G (p.Ile275Val)
n.653A>G
n.214A>G
c.871A>G (p.Ile291Val)
n.265A>G
c.763A>G (p.Ile255Val)
c.166A>G (p.Ile56Val)
c.844A>G (p.Ile282Val)
 gnomAD v4
21g.37490360A>TCA409947695DYRK1Ac.850A>T (p.Ile284Phe)
c.736A>T (p.Ile246Phe)
c.823A>T (p.Ile275Phe)
n.653A>T
n.214A>T
c.871A>T (p.Ile291Phe)
n.265A>T
c.763A>T (p.Ile255Phe)
c.166A>T (p.Ile56Phe)
c.844A>T (p.Ile282Phe)
21g.37490361T>ACA409947696DYRK1Ac.851T>A (p.Ile284Asn)
c.737T>A (p.Ile246Asn)
c.824T>A (p.Ile275Asn)
n.654T>A
n.215T>A
c.872T>A (p.Ile291Asn)
n.266T>A
c.764T>A (p.Ile255Asn)
c.167T>A (p.Ile56Asn)
c.845T>A (p.Ile282Asn)
21g.37490361T>CCA409947697DYRK1Ac.851T>C (p.Ile284Thr)
c.737T>C (p.Ile246Thr)
c.824T>C (p.Ile275Thr)
n.654T>C
n.215T>C
c.872T>C (p.Ile291Thr)
n.266T>C
c.764T>C (p.Ile255Thr)
c.167T>C (p.Ile56Thr)
c.845T>C (p.Ile282Thr)
21g.37490361T>GCA409947698DYRK1Ac.851T>G (p.Ile284Ser)
c.737T>G (p.Ile246Ser)
c.824T>G (p.Ile275Ser)
n.654T>G
n.215T>G
c.872T>G (p.Ile291Ser)
n.266T>G
c.764T>G (p.Ile255Ser)
c.167T>G (p.Ile56Ser)
c.845T>G (p.Ile282Ser)
21g.37490362T>ACA512327833DYRK1Ac.852T>A (p.Ile284=)
c.738T>A (p.Ile246=)
c.825T>A (p.Ile275=)
n.655T>A
n.216T>A
c.873T>A (p.Ile291=)
n.267T>A
c.765T>A (p.Ile255=)
c.168T>A (p.Ile56=)
c.846T>A (p.Ile282=)
21g.37490362T>CCA512327835DYRK1Ac.852T>C (p.Ile284=)
c.738T>C (p.Ile246=)
c.825T>C (p.Ile275=)
n.655T>C
n.216T>C
c.873T>C (p.Ile291=)
n.267T>C
c.765T>C (p.Ile255=)
c.168T>C (p.Ile56=)
c.846T>C (p.Ile282=)
21g.37490362T>GCA409947699DYRK1Ac.852T>G (p.Ile284Met)
c.738T>G (p.Ile246Met)
c.825T>G (p.Ile275Met)
n.655T>G
n.216T>G
c.873T>G (p.Ile291Met)
n.267T>G
c.765T>G (p.Ile255Met)
c.168T>G (p.Ile56Met)
c.846T>G (p.Ile282Met)
21g.37490363C>ACA409947700DYRK1Ac.853C>A (p.His285Asn)
c.739C>A (p.His247Asn)
c.826C>A (p.His276Asn)
n.656C>A
n.217C>A
c.874C>A (p.His292Asn)
n.268C>A
c.766C>A (p.His256Asn)
c.169C>A (p.His57Asn)
c.847C>A (p.His283Asn)
21g.37490363C>GCA409947701DYRK1Ac.853C>G (p.His285Asp)
c.739C>G (p.His247Asp)
c.826C>G (p.His276Asp)
n.656C>G
n.217C>G
c.874C>G (p.His292Asp)
n.268C>G
c.766C>G (p.His256Asp)
c.169C>G (p.His57Asp)
c.847C>G (p.His283Asp)
21g.37490363C>TCA409947702DYRK1Ac.853C>T (p.His285Tyr)
c.739C>T (p.His247Tyr)
c.826C>T (p.His276Tyr)
n.656C>T
n.217C>T
c.874C>T (p.His292Tyr)
n.268C>T
c.766C>T (p.His256Tyr)
c.169C>T (p.His57Tyr)
c.847C>T (p.His283Tyr)
21g.37490364A>CCA409947703DYRK1Ac.854A>C (p.His285Pro)
c.740A>C (p.His247Pro)
c.827A>C (p.His276Pro)
n.657A>C
n.218A>C
c.875A>C (p.His292Pro)
n.269A>C
c.767A>C (p.His256Pro)
c.170A>C (p.His57Pro)
c.848A>C (p.His283Pro)
21g.37490364A>GCA409947704DYRK1Ac.854A>G (p.His285Arg)
c.740A>G (p.His247Arg)
c.827A>G (p.His276Arg)
n.657A>G
n.218A>G
c.875A>G (p.His292Arg)
n.269A>G
c.767A>G (p.His256Arg)
c.170A>G (p.His57Arg)
c.848A>G (p.His283Arg)
 ClinVar dbSNP
21g.37490364A>TCA409947705DYRK1Ac.854A>T (p.His285Leu)
c.740A>T (p.His247Leu)
c.827A>T (p.His276Leu)
n.657A>T
n.218A>T
c.875A>T (p.His292Leu)
n.269A>T
c.767A>T (p.His256Leu)
c.170A>T (p.His57Leu)
c.848A>T (p.His283Leu)
21g.37490365C>ACA409947706DYRK1Ac.855C>A (p.His285Gln)
c.741C>A (p.His247Gln)
c.828C>A (p.His276Gln)
n.658C>A
n.219C>A
c.876C>A (p.His292Gln)
n.270C>A
c.768C>A (p.His256Gln)
c.171C>A (p.His57Gln)
c.849C>A (p.His283Gln)
 COSMIC
21g.37490365C>GCA409947707DYRK1Ac.855C>G (p.His285Gln)
c.741C>G (p.His247Gln)
c.828C>G (p.His276Gln)
n.658C>G
n.219C>G
c.876C>G (p.His292Gln)
n.270C>G
c.768C>G (p.His256Gln)
c.171C>G (p.His57Gln)
c.849C>G (p.His283Gln)
21g.37490365C>TCA512327839DYRK1Ac.855C>T (p.His285=)
c.741C>T (p.His247=)
c.828C>T (p.His276=)
n.658C>T
n.219C>T
c.876C>T (p.His292=)
n.270C>T
c.768C>T (p.His256=)
c.171C>T (p.His57=)
c.849C>T (p.His283=)
 gnomAD v4
21g.37490366T>ACA409947708DYRK1Ac.856T>A (p.Cys286Ser)
c.742T>A (p.Cys248Ser)
c.829T>A (p.Cys277Ser)
n.659T>A
n.220T>A
c.877T>A (p.Cys293Ser)
n.271T>A
c.769T>A (p.Cys257Ser)
c.172T>A (p.Cys58Ser)
c.850T>A (p.Cys284Ser)
21g.37490366T>CCA409947709DYRK1Ac.856T>C (p.Cys286Arg)
c.742T>C (p.Cys248Arg)
c.829T>C (p.Cys277Arg)
n.659T>C
n.220T>C
c.877T>C (p.Cys293Arg)
n.271T>C
c.769T>C (p.Cys257Arg)
c.172T>C (p.Cys58Arg)
c.850T>C (p.Cys284Arg)
21g.37490366T>GCA409947710DYRK1Ac.856T>G (p.Cys286Gly)
c.742T>G (p.Cys248Gly)
c.829T>G (p.Cys277Gly)
n.659T>G
n.220T>G
c.877T>G (p.Cys293Gly)
n.271T>G
c.769T>G (p.Cys257Gly)
c.172T>G (p.Cys58Gly)
c.850T>G (p.Cys284Gly)
 gnomAD v4
21g.37490367G>ACA409947711DYRK1Ac.857G>A (p.Cys286Tyr)
c.743G>A (p.Cys248Tyr)
c.830G>A (p.Cys277Tyr)
n.660G>A
n.221G>A
c.878G>A (p.Cys293Tyr)
n.272G>A
c.770G>A (p.Cys257Tyr)
c.173G>A (p.Cys58Tyr)
c.851G>A (p.Cys284Tyr)
 ClinVar dbSNP COSMIC
21g.37490367G>CCA409947712DYRK1Ac.857G>C (p.Cys286Ser)
c.743G>C (p.Cys248Ser)
c.830G>C (p.Cys277Ser)
n.660G>C
n.221G>C
c.878G>C (p.Cys293Ser)
n.272G>C
c.770G>C (p.Cys257Ser)
c.173G>C (p.Cys58Ser)
c.851G>C (p.Cys284Ser)
21g.37490367G>TCA409947713DYRK1Ac.857G>T (p.Cys286Phe)
c.743G>T (p.Cys248Phe)
c.830G>T (p.Cys277Phe)
n.660G>T
n.221G>T
c.878G>T (p.Cys293Phe)
n.272G>T
c.770G>T (p.Cys257Phe)
c.173G>T (p.Cys58Phe)
c.851G>T (p.Cys284Phe)
21g.37490368T>ACA409947714DYRK1Ac.858T>A (p.Cys286Ter)
c.744T>A (p.Cys248Ter)
c.831T>A (p.Cys277Ter)
n.661T>A
n.222T>A
c.879T>A (p.Cys293Ter)
n.273T>A
c.771T>A (p.Cys257Ter)
c.174T>A (p.Cys58Ter)
c.852T>A (p.Cys284Ter)
 dbSNP
21g.37490368T>CCA512327843DYRK1Ac.858T>C (p.Cys286=)
c.744T>C (p.Cys248=)
c.831T>C (p.Cys277=)
n.661T>C
n.222T>C
c.879T>C (p.Cys293=)
n.273T>C
c.771T>C (p.Cys257=)
c.174T>C (p.Cys58=)
c.852T>C (p.Cys284=)
21g.37490368T>GCA409947715DYRK1Ac.858T>G (p.Cys286Trp)
c.744T>G (p.Cys248Trp)
c.831T>G (p.Cys277Trp)
n.661T>G
n.222T>G
c.879T>G (p.Cys293Trp)
n.273T>G
c.771T>G (p.Cys257Trp)
c.174T>G (p.Cys58Trp)
c.852T>G (p.Cys284Trp)
21g.37490368T=CA2388495795DYRK1Ac.858T= (p.Cys286=)
c.744T= (p.Cys248=)
c.831T= (p.Cys277=)
n.661T=
n.222T=
c.879T= (p.Cys293=)
n.273T=
c.771T= (p.Cys257=)
c.174T= (p.Cys58=)
c.852T= (p.Cys284=)
21g.37490369G>ACA409947716DYRK1Ac.859G>A (p.Asp287Asn)
c.745G>A (p.Asp249Asn)
c.832G>A (p.Asp278Asn)
n.662G>A
n.223G>A
c.880G>A (p.Asp294Asn)
n.274G>A
c.772G>A (p.Asp258Asn)
c.175G>A (p.Asp59Asn)
c.853G>A (p.Asp285Asn)
21g.37490369G>CCA409947717DYRK1Ac.859G>C (p.Asp287His)
c.745G>C (p.Asp249His)
c.832G>C (p.Asp278His)
n.662G>C
n.223G>C
c.880G>C (p.Asp294His)
n.274G>C
c.772G>C (p.Asp258His)
c.175G>C (p.Asp59His)
c.853G>C (p.Asp285His)
21g.37490369G>TCA409947718DYRK1Ac.859G>T (p.Asp287Tyr)
c.745G>T (p.Asp249Tyr)
c.832G>T (p.Asp278Tyr)
n.662G>T
n.223G>T
c.880G>T (p.Asp294Tyr)
n.274G>T
c.772G>T (p.Asp258Tyr)
c.175G>T (p.Asp59Tyr)
c.853G>T (p.Asp285Tyr)
21g.37490370A=CA2388495796DYRK1Ac.860A= (p.Asp287=)
c.746A= (p.Asp249=)
c.833A= (p.Asp278=)
n.663A=
n.224A=
c.881A= (p.Asp294=)
n.275A=
c.773A= (p.Asp258=)
c.176A= (p.Asp59=)
c.854A= (p.Asp285=)
21g.37490370A>CCA409947721DYRK1Ac.860A>C (p.Asp287Ala)
c.746A>C (p.Asp249Ala)
c.833A>C (p.Asp278Ala)
n.663A>C
n.224A>C
c.881A>C (p.Asp294Ala)
n.275A>C
c.773A>C (p.Asp258Ala)
c.176A>C (p.Asp59Ala)
c.854A>C (p.Asp285Ala)
21g.37490370A>GCA409947720DYRK1Ac.860A>G (p.Asp287Gly)
c.746A>G (p.Asp249Gly)
c.833A>G (p.Asp278Gly)
n.663A>G
n.224A>G
c.881A>G (p.Asp294Gly)
n.275A>G
c.773A>G (p.Asp258Gly)
c.176A>G (p.Asp59Gly)
c.854A>G (p.Asp285Gly)
 ClinVar dbSNP
21g.37490370A>TCA409947719DYRK1Ac.860A>T (p.Asp287Val)
c.746A>T (p.Asp249Val)
c.833A>T (p.Asp278Val)
n.663A>T
n.224A>T
c.881A>T (p.Asp294Val)
n.275A>T
c.773A>T (p.Asp258Val)
c.176A>T (p.Asp59Val)
c.854A>T (p.Asp285Val)
 ClinVar dbSNP
21g.37490371T>ACA409947722DYRK1Ac.861T>A (p.Asp287Glu)
c.747T>A (p.Asp249Glu)
c.834T>A (p.Asp278Glu)
n.664T>A
n.225T>A
c.882T>A (p.Asp294Glu)
n.276T>A
c.774T>A (p.Asp258Glu)
c.177T>A (p.Asp59Glu)
c.855T>A (p.Asp285Glu)
21g.37490371T>CCA512327846DYRK1Ac.861T>C (p.Asp287=)
c.747T>C (p.Asp249=)
c.834T>C (p.Asp278=)
n.664T>C
n.225T>C
c.882T>C (p.Asp294=)
n.276T>C
c.774T>C (p.Asp258=)
c.177T>C (p.Asp59=)
c.855T>C (p.Asp285=)
21g.37490371T>GCA409947723DYRK1Ac.861T>G (p.Asp287Glu)
c.747T>G (p.Asp249Glu)
c.834T>G (p.Asp278Glu)
n.664T>G
n.225T>G
c.882T>G (p.Asp294Glu)
n.276T>G
c.774T>G (p.Asp258Glu)
c.177T>G (p.Asp59Glu)
c.855T>G (p.Asp285Glu)
21g.37490372C>ACA409947724DYRK1Ac.862C>A (p.Leu288Ile)
c.748C>A (p.Leu250Ile)
c.835C>A (p.Leu279Ile)
n.665C>A
n.226C>A
c.883C>A (p.Leu295Ile)
n.277C>A
c.775C>A (p.Leu259Ile)
c.178C>A (p.Leu60Ile)
c.856C>A (p.Leu286Ile)
21g.37490372C>GCA409947725DYRK1Ac.862C>G (p.Leu288Val)
c.748C>G (p.Leu250Val)
c.835C>G (p.Leu279Val)
n.665C>G
n.226C>G
c.883C>G (p.Leu295Val)
n.277C>G
c.775C>G (p.Leu259Val)
c.178C>G (p.Leu60Val)
c.856C>G (p.Leu286Val)
21g.37490372C>TCA512327848DYRK1Ac.862C>T (p.Leu288=)
c.748C>T (p.Leu250=)
c.835C>T (p.Leu279=)
n.665C>T
n.226C>T
c.883C>T (p.Leu295=)
n.277C>T
c.775C>T (p.Leu259=)
c.178C>T (p.Leu60=)
c.856C>T (p.Leu286=)
21g.37490373T>ACA409947726DYRK1Ac.863T>A (p.Leu288Gln)
c.749T>A (p.Leu250Gln)
c.836T>A (p.Leu279Gln)
n.666T>A
n.227T>A
c.884T>A (p.Leu295Gln)
n.278T>A
c.776T>A (p.Leu259Gln)
c.179T>A (p.Leu60Gln)
c.857T>A (p.Leu286Gln)
21g.37490373T>CCA409947727DYRK1Ac.863T>C (p.Leu288Pro)
c.749T>C (p.Leu250Pro)
c.836T>C (p.Leu279Pro)
n.666T>C
n.227T>C
c.884T>C (p.Leu295Pro)
n.278T>C
c.776T>C (p.Leu259Pro)
c.179T>C (p.Leu60Pro)
c.857T>C (p.Leu286Pro)
21g.37490373T>GCA409947728DYRK1Ac.863T>G (p.Leu288Arg)
c.749T>G (p.Leu250Arg)
c.836T>G (p.Leu279Arg)
n.666T>G
n.227T>G
c.884T>G (p.Leu295Arg)
n.278T>G
c.776T>G (p.Leu259Arg)
c.179T>G (p.Leu60Arg)
c.857T>G (p.Leu286Arg)
21g.37490374A=CA2388495797DYRK1Ac.864A= (p.Leu288=)
c.750A= (p.Leu250=)
c.837A= (p.Leu279=)
n.667A=
n.228A=
c.885A= (p.Leu295=)
n.279A=
c.777A= (p.Leu259=)
c.180A= (p.Leu60=)
c.858A= (p.Leu286=)
21g.37490374A>CCA512327849DYRK1Ac.864A>C (p.Leu288=)
c.750A>C (p.Leu250=)
c.837A>C (p.Leu279=)
n.667A>C
n.228A>C
c.885A>C (p.Leu295=)
n.279A>C
c.777A>C (p.Leu259=)
c.180A>C (p.Leu60=)
c.858A>C (p.Leu286=)
21g.37490374A>GCA10023861DYRK1Ac.864A>G (p.Leu288=)
c.750A>G (p.Leu250=)
c.837A>G (p.Leu279=)
n.667A>G
n.228A>G
c.885A>G (p.Leu295=)
n.279A>G
c.777A>G (p.Leu259=)
c.180A>G (p.Leu60=)
c.858A>G (p.Leu286=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37490374A>TCA512327853DYRK1Ac.864A>T (p.Leu288=)
c.750A>T (p.Leu250=)
c.837A>T (p.Leu279=)
n.667A>T
n.228A>T
c.885A>T (p.Leu295=)
n.279A>T
c.777A>T (p.Leu259=)
c.180A>T (p.Leu60=)
c.858A>T (p.Leu286=)
21g.37490377dupCA2573157427DYRK1Ac.867dup (p.Pro290ThrfsTer2)
c.753dup (p.Pro252ThrfsTer2)
c.840dup (p.Pro281ThrfsTer2)
n.670dup
n.231dup
c.888dup (p.Pro297ThrfsTer2)
n.282dup
c.780dup (p.Pro261ThrfsTer2)
c.183dup (p.Pro62ThrfsTer2)
c.861dup (p.Pro288ThrfsTer2)
 ClinVar dbSNP
21g.37490377delCA2580098706DYRK1Ac.867del (p.Lys289AsnfsTer17)
c.753del (p.Lys251AsnfsTer17)
c.840del (p.Lys280AsnfsTer17)
n.670del
n.231del
c.888del (p.Lys296AsnfsTer17)
n.282del
c.780del (p.Lys260AsnfsTer17)
c.183del (p.Lys61AsnfsTer17)
c.861del (p.Lys287AsnfsTer17)
 ClinVar
21g.37490375A=CA2388495798DYRK1Ac.865A= (p.Lys289=)
c.751A= (p.Lys251=)
c.838A= (p.Lys280=)
n.668A=
n.229A=
c.886A= (p.Lys296=)
n.280A=
c.778A= (p.Lys260=)
c.181A= (p.Lys61=)
c.859A= (p.Lys287=)
21g.37490375A>CCA409947729DYRK1Ac.865A>C (p.Lys289Gln)
c.751A>C (p.Lys251Gln)
c.838A>C (p.Lys280Gln)
n.668A>C
n.229A>C
c.886A>C (p.Lys296Gln)
n.280A>C
c.778A>C (p.Lys260Gln)
c.181A>C (p.Lys61Gln)
c.859A>C (p.Lys287Gln)
21g.37490375A>GCA409947730DYRK1Ac.865A>G (p.Lys289Glu)
c.751A>G (p.Lys251Glu)
c.838A>G (p.Lys280Glu)
n.668A>G
n.229A>G
c.886A>G (p.Lys296Glu)
n.280A>G
c.778A>G (p.Lys260Glu)
c.181A>G (p.Lys61Glu)
c.859A>G (p.Lys287Glu)
21g.37490375A>TCA409947731DYRK1Ac.865A>T (p.Lys289Ter)
c.751A>T (p.Lys251Ter)
c.838A>T (p.Lys280Ter)
n.668A>T
n.229A>T
c.886A>T (p.Lys296Ter)
n.280A>T
c.778A>T (p.Lys260Ter)
c.181A>T (p.Lys61Ter)
c.859A>T (p.Lys287Ter)
 dbSNP
21g.37490376A>CCA409947732DYRK1Ac.866A>C (p.Lys289Thr)
c.752A>C (p.Lys251Thr)
c.839A>C (p.Lys280Thr)
n.669A>C
n.230A>C
c.887A>C (p.Lys296Thr)
n.281A>C
c.779A>C (p.Lys260Thr)
c.182A>C (p.Lys61Thr)
c.860A>C (p.Lys287Thr)
21g.37490376A>GCA409947733DYRK1Ac.866A>G (p.Lys289Arg)
c.752A>G (p.Lys251Arg)
c.839A>G (p.Lys280Arg)
n.669A>G
n.230A>G
c.887A>G (p.Lys296Arg)
n.281A>G
c.779A>G (p.Lys260Arg)
c.182A>G (p.Lys61Arg)
c.860A>G (p.Lys287Arg)
21g.37490376A>TCA409947734DYRK1Ac.866A>T (p.Lys289Ile)
c.752A>T (p.Lys251Ile)
c.839A>T (p.Lys280Ile)
n.669A>T
n.230A>T
c.887A>T (p.Lys296Ile)
n.281A>T
c.779A>T (p.Lys260Ile)
c.182A>T (p.Lys61Ile)
c.860A>T (p.Lys287Ile)
21g.37490377A>CCA409947735DYRK1Ac.867A>C (p.Lys289Asn)
c.753A>C (p.Lys251Asn)
c.840A>C (p.Lys280Asn)
n.670A>C
n.231A>C
c.888A>C (p.Lys296Asn)
n.282A>C
c.780A>C (p.Lys260Asn)
c.183A>C (p.Lys61Asn)
c.861A>C (p.Lys287Asn)
21g.37490377A>GCA512327855DYRK1Ac.867A>G (p.Lys289=)
c.753A>G (p.Lys251=)
c.840A>G (p.Lys280=)
n.670A>G
n.231A>G
c.888A>G (p.Lys296=)
n.282A>G
c.780A>G (p.Lys260=)
c.183A>G (p.Lys61=)
c.861A>G (p.Lys287=)
21g.37490377A>TCA409947736DYRK1Ac.867A>T (p.Lys289Asn)
c.753A>T (p.Lys251Asn)
c.840A>T (p.Lys280Asn)
n.670A>T
n.231A>T
c.888A>T (p.Lys296Asn)
n.282A>T
c.780A>T (p.Lys260Asn)
c.183A>T (p.Lys61Asn)
c.861A>T (p.Lys287Asn)
21g.37490378C>ACA409947737DYRK1Ac.868C>A (p.Pro290Thr)
c.754C>A (p.Pro252Thr)
c.841C>A (p.Pro281Thr)
n.671C>A
n.232C>A
c.889C>A (p.Pro297Thr)
n.283C>A
c.781C>A (p.Pro261Thr)
c.184C>A (p.Pro62Thr)
c.862C>A (p.Pro288Thr)
21g.37490378C>GCA409947738DYRK1Ac.868C>G (p.Pro290Ala)
c.754C>G (p.Pro252Ala)
c.841C>G (p.Pro281Ala)
n.671C>G
n.232C>G
c.889C>G (p.Pro297Ala)
n.283C>G
c.781C>G (p.Pro261Ala)
c.184C>G (p.Pro62Ala)
c.862C>G (p.Pro288Ala)
21g.37490378C>TCA409947739DYRK1Ac.868C>T (p.Pro290Ser)
c.754C>T (p.Pro252Ser)
c.841C>T (p.Pro281Ser)
n.671C>T
n.232C>T
c.889C>T (p.Pro297Ser)
n.283C>T
c.781C>T (p.Pro261Ser)
c.184C>T (p.Pro62Ser)
c.862C>T (p.Pro288Ser)
21g.37490379C>ACA409947740DYRK1Ac.869C>A (p.Pro290His)
c.755C>A (p.Pro252His)
c.842C>A (p.Pro281His)
n.672C>A
n.233C>A
c.890C>A (p.Pro297His)
n.284C>A
c.782C>A (p.Pro261His)
c.185C>A (p.Pro62His)
c.863C>A (p.Pro288His)
21g.37490379C=CA2388495799DYRK1Ac.869C= (p.Pro290=)
c.755C= (p.Pro252=)
c.842C= (p.Pro281=)
n.672C=
n.233C=
c.890C= (p.Pro297=)
n.284C=
c.782C= (p.Pro261=)
c.185C= (p.Pro62=)
c.863C= (p.Pro288=)
21g.37490379C>GCA409947741DYRK1Ac.869C>G (p.Pro290Arg)
c.755C>G (p.Pro252Arg)
c.842C>G (p.Pro281Arg)
n.672C>G
n.233C>G
c.890C>G (p.Pro297Arg)
n.284C>G
c.782C>G (p.Pro261Arg)
c.185C>G (p.Pro62Arg)
c.863C>G (p.Pro288Arg)
 ClinVar dbSNP
21g.37490379C>TCA409947742DYRK1Ac.869C>T (p.Pro290Leu)
c.755C>T (p.Pro252Leu)
c.842C>T (p.Pro281Leu)
n.672C>T
n.233C>T
c.890C>T (p.Pro297Leu)
n.284C>T
c.782C>T (p.Pro261Leu)
c.185C>T (p.Pro62Leu)
c.863C>T (p.Pro288Leu)
21g.37490380T>ACA512327859DYRK1Ac.870T>A (p.Pro290=)
c.756T>A (p.Pro252=)
c.843T>A (p.Pro281=)
n.673T>A
n.234T>A
c.891T>A (p.Pro297=)
n.285T>A
c.783T>A (p.Pro261=)
c.186T>A (p.Pro62=)
c.864T>A (p.Pro288=)
21g.37490380T>CCA512327862DYRK1Ac.870T>C (p.Pro290=)
c.756T>C (p.Pro252=)
c.843T>C (p.Pro281=)
n.673T>C
n.234T>C
c.891T>C (p.Pro297=)
n.285T>C
c.783T>C (p.Pro261=)
c.186T>C (p.Pro62=)
c.864T>C (p.Pro288=)
21g.37490380T>GCA512327861DYRK1Ac.870T>G (p.Pro290=)
c.756T>G (p.Pro252=)
c.843T>G (p.Pro281=)
n.673T>G
n.234T>G
c.891T>G (p.Pro297=)
n.285T>G
c.783T>G (p.Pro261=)
c.186T>G (p.Pro62=)
c.864T>G (p.Pro288=)
21g.37490381G>ACA409947743DYRK1Ac.871G>A (p.Glu291Lys)
c.757G>A (p.Glu253Lys)
c.844G>A (p.Glu282Lys)
n.674G>A
n.235G>A
c.892G>A (p.Glu298Lys)
n.286G>A
c.784G>A (p.Glu262Lys)
c.187G>A (p.Glu63Lys)
c.865G>A (p.Glu289Lys)
 COSMIC COSMIC COSMIC
21g.37490381G>CCA409947744DYRK1Ac.871G>C (p.Glu291Gln)
c.757G>C (p.Glu253Gln)
c.844G>C (p.Glu282Gln)
n.674G>C
n.235G>C
c.892G>C (p.Glu298Gln)
n.286G>C
c.784G>C (p.Glu262Gln)
c.187G>C (p.Glu63Gln)
c.865G>C (p.Glu289Gln)
21g.37490381G=CA2388495800DYRK1Ac.871G= (p.Glu291=)
c.757G= (p.Glu253=)
c.844G= (p.Glu282=)
n.674G=
n.235G=
c.892G= (p.Glu298=)
n.286G=
c.784G= (p.Glu262=)
c.187G= (p.Glu63=)
c.865G= (p.Glu289=)
21g.37490381G>TCA409947745DYRK1Ac.871G>T (p.Glu291Ter)
c.757G>T (p.Glu253Ter)
c.844G>T (p.Glu282Ter)
n.674G>T
n.235G>T
c.892G>T (p.Glu298Ter)
n.286G>T
c.784G>T (p.Glu262Ter)
c.187G>T (p.Glu63Ter)
c.865G>T (p.Glu289Ter)
 dbSNP
21g.37490382A>CCA409947746DYRK1Ac.872A>C (p.Glu291Ala)
c.758A>C (p.Glu253Ala)
c.845A>C (p.Glu282Ala)
n.675A>C
n.236A>C
c.893A>C (p.Glu298Ala)
n.287A>C
c.785A>C (p.Glu262Ala)
c.188A>C (p.Glu63Ala)
c.866A>C (p.Glu289Ala)
21g.37490382A>GCA409947747DYRK1Ac.872A>G (p.Glu291Gly)
c.758A>G (p.Glu253Gly)
c.845A>G (p.Glu282Gly)
n.675A>G
n.236A>G
c.893A>G (p.Glu298Gly)
n.287A>G
c.785A>G (p.Glu262Gly)
c.188A>G (p.Glu63Gly)
c.866A>G (p.Glu289Gly)
21g.37490382A>TCA409947748DYRK1Ac.872A>T (p.Glu291Val)
c.758A>T (p.Glu253Val)
c.845A>T (p.Glu282Val)
n.675A>T
n.236A>T
c.893A>T (p.Glu298Val)
n.287A>T
c.785A>T (p.Glu262Val)
c.188A>T (p.Glu63Val)
c.866A>T (p.Glu289Val)
21g.37490385dupCA2580098707DYRK1Ac.875dup (p.Asn292LysfsTer6)
c.761dup (p.Asn254LysfsTer6)
c.848dup (p.Asn283LysfsTer6)
n.678dup
n.239dup
c.896dup (p.Asn299LysfsTer6)
n.290dup
c.788dup (p.Asn263LysfsTer6)
c.191dup (p.Asn64LysfsTer6)
c.869dup (p.Asn290LysfsTer6)
 ClinVar
21g.37490383A=CA2388495801DYRK1Ac.873A= (p.Glu291=)
c.759A= (p.Glu253=)
c.846A= (p.Glu282=)
n.676A=
n.237A=
c.894A= (p.Glu298=)
n.288A=
c.786A= (p.Glu262=)
c.189A= (p.Glu63=)
c.867A= (p.Glu289=)
21g.37490383A>CCA409947750DYRK1Ac.873A>C (p.Glu291Asp)
c.759A>C (p.Glu253Asp)
c.846A>C (p.Glu282Asp)
n.676A>C
n.237A>C
c.894A>C (p.Glu298Asp)
n.288A>C
c.786A>C (p.Glu262Asp)
c.189A>C (p.Glu63Asp)
c.867A>C (p.Glu289Asp)
21g.37490383A>GCA320483540DYRK1Ac.873A>G (p.Glu291=)
c.759A>G (p.Glu253=)
c.846A>G (p.Glu282=)
n.676A>G
n.237A>G
c.894A>G (p.Glu298=)
n.288A>G
c.786A>G (p.Glu262=)
c.189A>G (p.Glu63=)
c.867A>G (p.Glu289=)
 dbSNP gnomAD v4
21g.37490383A>TCA409947749DYRK1Ac.873A>T (p.Glu291Asp)
c.759A>T (p.Glu253Asp)
c.846A>T (p.Glu282Asp)
n.676A>T
n.237A>T
c.894A>T (p.Glu298Asp)
n.288A>T
c.786A>T (p.Glu262Asp)
c.189A>T (p.Glu63Asp)
c.867A>T (p.Glu289Asp)
21g.37490384A>CCA409947753DYRK1Ac.874A>C (p.Asn292His)
c.760A>C (p.Asn254His)
c.847A>C (p.Asn283His)
n.677A>C
n.238A>C
c.895A>C (p.Asn299His)
n.289A>C
c.787A>C (p.Asn263His)
c.190A>C (p.Asn64His)
c.868A>C (p.Asn290His)
21g.37490384A>GCA409947751DYRK1Ac.874A>G (p.Asn292Asp)
c.760A>G (p.Asn254Asp)
c.847A>G (p.Asn283Asp)
n.677A>G
n.238A>G
c.895A>G (p.Asn299Asp)
n.289A>G
c.787A>G (p.Asn263Asp)
c.190A>G (p.Asn64Asp)
c.868A>G (p.Asn290Asp)
21g.37490384A>TCA409947752DYRK1Ac.874A>T (p.Asn292Tyr)
c.760A>T (p.Asn254Tyr)
c.847A>T (p.Asn283Tyr)
n.677A>T
n.238A>T
c.895A>T (p.Asn299Tyr)
n.289A>T
c.787A>T (p.Asn263Tyr)
c.190A>T (p.Asn64Tyr)
c.868A>T (p.Asn290Tyr)
21g.37490385A>CCA409947754DYRK1Ac.875A>C (p.Asn292Thr)
c.761A>C (p.Asn254Thr)
c.848A>C (p.Asn283Thr)
n.678A>C
n.239A>C
c.896A>C (p.Asn299Thr)
n.290A>C
c.788A>C (p.Asn263Thr)
c.191A>C (p.Asn64Thr)
c.869A>C (p.Asn290Thr)
21g.37490385A>GCA409947755DYRK1Ac.875A>G (p.Asn292Ser)
c.761A>G (p.Asn254Ser)
c.848A>G (p.Asn283Ser)
n.678A>G
n.239A>G
c.896A>G (p.Asn299Ser)
n.290A>G
c.788A>G (p.Asn263Ser)
c.191A>G (p.Asn64Ser)
c.869A>G (p.Asn290Ser)
 ClinVar
21g.37490385A>TCA409947756DYRK1Ac.875A>T (p.Asn292Ile)
c.761A>T (p.Asn254Ile)
c.848A>T (p.Asn283Ile)
n.678A>T
n.239A>T
c.896A>T (p.Asn299Ile)
n.290A>T
c.788A>T (p.Asn263Ile)
c.191A>T (p.Asn64Ile)
c.869A>T (p.Asn290Ile)
21g.37490386T>ACA409947757DYRK1Ac.876T>A (p.Asn292Lys)
c.762T>A (p.Asn254Lys)
c.849T>A (p.Asn283Lys)
n.679T>A
n.240T>A
c.897T>A (p.Asn299Lys)
n.291T>A
c.789T>A (p.Asn263Lys)
c.192T>A (p.Asn64Lys)
c.870T>A (p.Asn290Lys)
21g.37490386T>CCA320483545DYRK1Ac.876T>C (p.Asn292=)
c.762T>C (p.Asn254=)
c.849T>C (p.Asn283=)
n.679T>C
n.240T>C
c.897T>C (p.Asn299=)
n.291T>C
c.789T>C (p.Asn263=)
c.192T>C (p.Asn64=)
c.870T>C (p.Asn290=)
 dbSNP gnomAD v4
21g.37490386T>GCA409947758DYRK1Ac.876T>G (p.Asn292Lys)
c.762T>G (p.Asn254Lys)
c.849T>G (p.Asn283Lys)
n.679T>G
n.240T>G
c.897T>G (p.Asn299Lys)
n.291T>G
c.789T>G (p.Asn263Lys)
c.192T>G (p.Asn64Lys)
c.870T>G (p.Asn290Lys)
21g.37490386T=CA2388495802DYRK1Ac.876T= (p.Asn292=)
c.762T= (p.Asn254=)
c.849T= (p.Asn283=)
n.679T=
n.240T=
c.897T= (p.Asn299=)
n.291T=
c.789T= (p.Asn263=)
c.192T= (p.Asn64=)
c.870T= (p.Asn290=)
21g.37490387A=CA2388495803DYRK1Ac.877A= (p.Ile293=)
c.763A= (p.Ile255=)
c.850A= (p.Ile284=)
n.680A=
n.241A=
c.898A= (p.Ile300=)
n.292A=
c.790A= (p.Ile264=)
c.193A= (p.Ile65=)
c.871A= (p.Ile291=)
21g.37490387A>CCA409947759DYRK1Ac.877A>C (p.Ile293Leu)
c.763A>C (p.Ile255Leu)
c.850A>C (p.Ile284Leu)
n.680A>C
n.241A>C
c.898A>C (p.Ile300Leu)
n.292A>C
c.790A>C (p.Ile264Leu)
c.193A>C (p.Ile65Leu)
c.871A>C (p.Ile291Leu)
21g.37490387A>GCA409947760DYRK1Ac.877A>G (p.Ile293Val)
c.763A>G (p.Ile255Val)
c.850A>G (p.Ile284Val)
n.680A>G
n.241A>G
c.898A>G (p.Ile300Val)
n.292A>G
c.790A>G (p.Ile264Val)
c.193A>G (p.Ile65Val)
c.871A>G (p.Ile291Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.37490387A>TCA409947761DYRK1Ac.877A>T (p.Ile293Phe)
c.763A>T (p.Ile255Phe)
c.850A>T (p.Ile284Phe)
n.680A>T
n.241A>T
c.898A>T (p.Ile300Phe)
n.292A>T
c.790A>T (p.Ile264Phe)
c.193A>T (p.Ile65Phe)
c.871A>T (p.Ile291Phe)
21g.37490388T>ACA409947762DYRK1Ac.878T>A (p.Ile293Asn)
c.764T>A (p.Ile255Asn)
c.851T>A (p.Ile284Asn)
n.681T>A
n.242T>A
c.899T>A (p.Ile300Asn)
n.293T>A
c.791T>A (p.Ile264Asn)
c.194T>A (p.Ile65Asn)
c.872T>A (p.Ile291Asn)
21g.37490388T>CCA409947763DYRK1Ac.878T>C (p.Ile293Thr)
c.764T>C (p.Ile255Thr)
c.851T>C (p.Ile284Thr)
n.681T>C
n.242T>C
c.899T>C (p.Ile300Thr)
n.293T>C
c.791T>C (p.Ile264Thr)
c.194T>C (p.Ile65Thr)
c.872T>C (p.Ile291Thr)
 ClinVar
21g.37490388T>GCA409947764DYRK1Ac.878T>G (p.Ile293Ser)
c.764T>G (p.Ile255Ser)
c.851T>G (p.Ile284Ser)
n.681T>G
n.242T>G
c.899T>G (p.Ile300Ser)
n.293T>G
c.791T>G (p.Ile264Ser)
c.194T>G (p.Ile65Ser)
c.872T>G (p.Ile291Ser)
21g.37490389C>ACA320483550DYRK1Ac.879C>A (p.Ile293=)
c.765C>A (p.Ile255=)
c.852C>A (p.Ile284=)
n.682C>A
n.243C>A
c.900C>A (p.Ile300=)
n.294C>A
c.792C>A (p.Ile264=)
c.195C>A (p.Ile65=)
c.873C>A (p.Ile291=)
 ClinVar dbSNP
21g.37490389C=CA2388495804DYRK1Ac.879C= (p.Ile293=)
c.765C= (p.Ile255=)
c.852C= (p.Ile284=)
n.682C=
n.243C=
c.900C= (p.Ile300=)
n.294C=
c.792C= (p.Ile264=)
c.195C= (p.Ile65=)
c.873C= (p.Ile291=)
21g.37490389C>GCA409947765DYRK1Ac.879C>G (p.Ile293Met)
c.765C>G (p.Ile255Met)
c.852C>G (p.Ile284Met)
n.682C>G
n.243C>G
c.900C>G (p.Ile300Met)
n.294C>G
c.792C>G (p.Ile264Met)
c.195C>G (p.Ile65Met)
c.873C>G (p.Ile291Met)
21g.37490389C>TCA512327873DYRK1Ac.879C>T (p.Ile293=)
c.765C>T (p.Ile255=)
c.852C>T (p.Ile284=)
n.682C>T
n.243C>T
c.900C>T (p.Ile300=)
n.294C>T
c.792C>T (p.Ile264=)
c.195C>T (p.Ile65=)
c.873C>T (p.Ile291=)
21g.37490390C>ACA409947766DYRK1Ac.880C>A (p.Leu294Ile)
c.766C>A (p.Leu256Ile)
c.853C>A (p.Leu285Ile)
n.683C>A
n.244C>A
c.901C>A (p.Leu301Ile)
n.295C>A
c.793C>A (p.Leu265Ile)
c.196C>A (p.Leu66Ile)
c.874C>A (p.Leu292Ile)
 ClinVar
21g.37490390C>GCA409947767DYRK1Ac.880C>G (p.Leu294Val)
c.766C>G (p.Leu256Val)
c.853C>G (p.Leu285Val)
n.683C>G
n.244C>G
c.901C>G (p.Leu301Val)
n.295C>G
c.793C>G (p.Leu265Val)
c.196C>G (p.Leu66Val)
c.874C>G (p.Leu292Val)
21g.37490390C>TCA409947768DYRK1Ac.880C>T (p.Leu294Phe)
c.766C>T (p.Leu256Phe)
c.853C>T (p.Leu285Phe)
n.683C>T
n.244C>T
c.901C>T (p.Leu301Phe)
n.295C>T
c.793C>T (p.Leu265Phe)
c.196C>T (p.Leu66Phe)
c.874C>T (p.Leu292Phe)
 COSMIC COSMIC COSMIC
21g.37490393_37490395delCA645608576DYRK1Ac.883_885del (p.Leu295del)
c.769_771del (p.Leu257del)
c.856_858del (p.Leu286del)
n.686_688del
n.247_249del
c.904_906del (p.Leu302del)
n.298_300del
c.796_798del (p.Leu266del)
c.199_201del (p.Leu67del)
c.877_879del (p.Leu293del)
 COSMIC COSMIC
21g.37490391T>ACA409947769DYRK1Ac.881T>A (p.Leu294His)
c.767T>A (p.Leu256His)
c.854T>A (p.Leu285His)
n.684T>A
n.245T>A
c.902T>A (p.Leu301His)
n.296T>A
c.794T>A (p.Leu265His)
c.197T>A (p.Leu66His)
c.875T>A (p.Leu292His)
21g.37490391T>CCA409947770DYRK1Ac.881T>C (p.Leu294Pro)
c.767T>C (p.Leu256Pro)
c.854T>C (p.Leu285Pro)
n.684T>C
n.245T>C
c.902T>C (p.Leu301Pro)
n.296T>C
c.794T>C (p.Leu265Pro)
c.197T>C (p.Leu66Pro)
c.875T>C (p.Leu292Pro)
21g.37490391T>GCA409947771DYRK1Ac.881T>G (p.Leu294Arg)
c.767T>G (p.Leu256Arg)
c.854T>G (p.Leu285Arg)
n.684T>G
n.245T>G
c.902T>G (p.Leu301Arg)
n.296T>G
c.794T>G (p.Leu265Arg)
c.197T>G (p.Leu66Arg)
c.875T>G (p.Leu292Arg)
21g.37490392T>ACA512327877DYRK1Ac.882T>A (p.Leu294=)
c.768T>A (p.Leu256=)
c.855T>A (p.Leu285=)
n.685T>A
n.246T>A
c.903T>A (p.Leu301=)
n.297T>A
c.795T>A (p.Leu265=)
c.198T>A (p.Leu66=)
c.876T>A (p.Leu292=)
21g.37490392T>CCA10023862DYRK1Ac.882T>C (p.Leu294=)
c.768T>C (p.Leu256=)
c.855T>C (p.Leu285=)
n.685T>C
n.246T>C
c.903T>C (p.Leu301=)
n.297T>C
c.795T>C (p.Leu265=)
c.198T>C (p.Leu66=)
c.876T>C (p.Leu292=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37490392T>GCA512327878DYRK1Ac.882T>G (p.Leu294=)
c.768T>G (p.Leu256=)
c.855T>G (p.Leu285=)
n.685T>G
n.246T>G
c.903T>G (p.Leu301=)
n.297T>G
c.795T>G (p.Leu265=)
c.198T>G (p.Leu66=)
c.876T>G (p.Leu292=)
21g.37490392T=CA2388495805DYRK1Ac.882T= (p.Leu294=)
c.768T= (p.Leu256=)
c.855T= (p.Leu285=)
n.685T=
n.246T=
c.903T= (p.Leu301=)
n.297T=
c.795T= (p.Leu265=)
c.198T= (p.Leu66=)
c.876T= (p.Leu292=)
21g.37490393C>ACA409947772DYRK1Ac.883C>A (p.Leu295Ile)
c.769C>A (p.Leu257Ile)
c.856C>A (p.Leu286Ile)
n.686C>A
n.247C>A
c.904C>A (p.Leu302Ile)
n.298C>A
c.796C>A (p.Leu266Ile)
c.199C>A (p.Leu67Ile)
c.877C>A (p.Leu293Ile)
21g.37490393C=CA2388495806DYRK1Ac.883C= (p.Leu295=)
c.769C= (p.Leu257=)
c.856C= (p.Leu286=)
n.686C=
n.247C=
c.904C= (p.Leu302=)
n.298C=
c.796C= (p.Leu266=)
c.199C= (p.Leu67=)
c.877C= (p.Leu293=)
21g.37490393C>GCA409947773DYRK1Ac.883C>G (p.Leu295Val)
c.769C>G (p.Leu257Val)
c.856C>G (p.Leu286Val)
n.686C>G
n.247C>G
c.904C>G (p.Leu302Val)
n.298C>G
c.796C>G (p.Leu266Val)
c.199C>G (p.Leu67Val)
c.877C>G (p.Leu293Val)
21g.37490393C>TCA278535DYRK1Ac.883C>T (p.Leu295Phe)
c.769C>T (p.Leu257Phe)
c.856C>T (p.Leu286Phe)
n.686C>T
n.247C>T
c.904C>T (p.Leu302Phe)
n.298C>T
c.796C>T (p.Leu266Phe)
c.199C>T (p.Leu67Phe)
c.877C>T (p.Leu293Phe)
 ClinVar dbSNP
21g.37490394T>ACA409947774DYRK1Ac.884T>A (p.Leu295His)
c.770T>A (p.Leu257His)
c.857T>A (p.Leu286His)
n.687T>A
n.248T>A
c.905T>A (p.Leu302His)
n.299T>A
c.797T>A (p.Leu266His)
c.200T>A (p.Leu67His)
c.878T>A (p.Leu293His)
21g.37490394T>CCA409947775DYRK1Ac.884T>C (p.Leu295Pro)
c.770T>C (p.Leu257Pro)
c.857T>C (p.Leu286Pro)
n.687T>C
n.248T>C
c.905T>C (p.Leu302Pro)
n.299T>C
c.797T>C (p.Leu266Pro)
c.200T>C (p.Leu67Pro)
c.878T>C (p.Leu293Pro)
21g.37490394T>GCA409947776DYRK1Ac.884T>G (p.Leu295Arg)
c.770T>G (p.Leu257Arg)
c.857T>G (p.Leu286Arg)
n.687T>G
n.248T>G
c.905T>G (p.Leu302Arg)
n.299T>G
c.797T>G (p.Leu266Arg)
c.200T>G (p.Leu67Arg)
c.878T>G (p.Leu293Arg)
21g.37490395T>ACA512327884DYRK1Ac.885T>A (p.Leu295=)
c.771T>A (p.Leu257=)
c.858T>A (p.Leu286=)
n.688T>A
n.249T>A
c.906T>A (p.Leu302=)
n.300T>A
c.798T>A (p.Leu266=)
c.201T>A (p.Leu67=)
c.879T>A (p.Leu293=)
21g.37490395T>CCA512327882DYRK1Ac.885T>C (p.Leu295=)
c.771T>C (p.Leu257=)
c.858T>C (p.Leu286=)
n.688T>C
n.249T>C
c.906T>C (p.Leu302=)
n.300T>C
c.798T>C (p.Leu266=)
c.201T>C (p.Leu67=)
c.879T>C (p.Leu293=)
21g.37490395T>GCA512327883DYRK1Ac.885T>G (p.Leu295=)
c.771T>G (p.Leu257=)
c.858T>G (p.Leu286=)
n.688T>G
n.249T>G
c.906T>G (p.Leu302=)
n.300T>G
c.798T>G (p.Leu266=)
c.201T>G (p.Leu67=)
c.879T>G (p.Leu293=)
21g.37490396_37490398delCA645608577DYRK1Ac.886_888del (p.Cys296del)
c.772_774del (p.Cys258del)
c.859_861del (p.Cys287del)
n.689_691del
n.250_252del
c.907_909del (p.Cys303del)
n.301_303del
c.799_801del (p.Cys267del)
c.202_204del (p.Cys68del)
c.880_882del (p.Cys294del)
 COSMIC COSMIC COSMIC
21g.37490396T>ACA409947777DYRK1Ac.886T>A (p.Cys296Ser)
c.772T>A (p.Cys258Ser)
c.859T>A (p.Cys287Ser)
n.689T>A
n.250T>A
c.907T>A (p.Cys303Ser)
n.301T>A
c.799T>A (p.Cys267Ser)
c.202T>A (p.Cys68Ser)
c.880T>A (p.Cys294Ser)
21g.37490396T>CCA409947779DYRK1Ac.886T>C (p.Cys296Arg)
c.772T>C (p.Cys258Arg)
c.859T>C (p.Cys287Arg)
n.689T>C
n.250T>C
c.907T>C (p.Cys303Arg)
n.301T>C
c.799T>C (p.Cys267Arg)
c.202T>C (p.Cys68Arg)
c.880T>C (p.Cys294Arg)
21g.37490396T>GCA409947778DYRK1Ac.886T>G (p.Cys296Gly)
c.772T>G (p.Cys258Gly)
c.859T>G (p.Cys287Gly)
n.689T>G
n.250T>G
c.907T>G (p.Cys303Gly)
n.301T>G
c.799T>G (p.Cys267Gly)
c.202T>G (p.Cys68Gly)
c.880T>G (p.Cys294Gly)
21g.37490397G>ACA409947780DYRK1Ac.887G>A (p.Cys296Tyr)
c.773G>A (p.Cys258Tyr)
c.860G>A (p.Cys287Tyr)
n.690G>A
n.251G>A
c.908G>A (p.Cys303Tyr)
n.302G>A
c.800G>A (p.Cys267Tyr)
c.203G>A (p.Cys68Tyr)
c.881G>A (p.Cys294Tyr)
21g.37490397G>CCA409947781DYRK1Ac.887G>C (p.Cys296Ser)
c.773G>C (p.Cys258Ser)
c.860G>C (p.Cys287Ser)
n.690G>C
n.251G>C
c.908G>C (p.Cys303Ser)
n.302G>C
c.800G>C (p.Cys267Ser)
c.203G>C (p.Cys68Ser)
c.881G>C (p.Cys294Ser)
21g.37490397G>TCA409947782DYRK1Ac.887G>T (p.Cys296Phe)
c.773G>T (p.Cys258Phe)
c.860G>T (p.Cys287Phe)
n.690G>T
n.251G>T
c.908G>T (p.Cys303Phe)
n.302G>T
c.800G>T (p.Cys267Phe)
c.203G>T (p.Cys68Phe)
c.881G>T (p.Cys294Phe)
21g.37490398T>ACA409947783DYRK1Ac.888T>A (p.Cys296Ter)
c.774T>A (p.Cys258Ter)
c.861T>A (p.Cys287Ter)
n.691T>A
n.252T>A
c.909T>A (p.Cys303Ter)
n.303T>A
c.801T>A (p.Cys267Ter)
c.204T>A (p.Cys68Ter)
c.882T>A (p.Cys294Ter)
 dbSNP
21g.37490398T>CCA512327888DYRK1Ac.888T>C (p.Cys296=)
c.774T>C (p.Cys258=)
c.861T>C (p.Cys287=)
n.691T>C
n.252T>C
c.909T>C (p.Cys303=)
n.303T>C
c.801T>C (p.Cys267=)
c.204T>C (p.Cys68=)
c.882T>C (p.Cys294=)
21g.37490398T>GCA409947784DYRK1Ac.888T>G (p.Cys296Trp)
c.774T>G (p.Cys258Trp)
c.861T>G (p.Cys287Trp)
n.691T>G
n.252T>G
c.909T>G (p.Cys303Trp)
n.303T>G
c.801T>G (p.Cys267Trp)
c.204T>G (p.Cys68Trp)
c.882T>G (p.Cys294Trp)
21g.37490398T=CA2388495807DYRK1Ac.888T= (p.Cys296=)
c.774T= (p.Cys258=)
c.861T= (p.Cys287=)
n.691T=
n.252T=
c.909T= (p.Cys303=)
n.303T=
c.801T= (p.Cys267=)
c.204T= (p.Cys68=)
c.882T= (p.Cys294=)
21g.37490399A>CCA409947785DYRK1Ac.889A>C (p.Asn297His)
c.775A>C (p.Asn259His)
c.862A>C (p.Asn288His)
n.692A>C
n.253A>C
c.910A>C (p.Asn304His)
n.304A>C
c.802A>C (p.Asn268His)
c.205A>C (p.Asn69His)
c.883A>C (p.Asn295His)
21g.37490399A>GCA409947786DYRK1Ac.889A>G (p.Asn297Asp)
c.775A>G (p.Asn259Asp)
c.862A>G (p.Asn288Asp)
n.692A>G
n.253A>G
c.910A>G (p.Asn304Asp)
n.304A>G
c.802A>G (p.Asn268Asp)
c.205A>G (p.Asn69Asp)
c.883A>G (p.Asn295Asp)
21g.37490399A>TCA409947787DYRK1Ac.889A>T (p.Asn297Tyr)
c.775A>T (p.Asn259Tyr)
c.862A>T (p.Asn288Tyr)
n.692A>T
n.253A>T
c.910A>T (p.Asn304Tyr)
n.304A>T
c.802A>T (p.Asn268Tyr)
c.205A>T (p.Asn69Tyr)
c.883A>T (p.Asn295Tyr)
21g.37490400A>CCA409947788DYRK1Ac.890A>C (p.Asn297Thr)
c.776A>C (p.Asn259Thr)
c.863A>C (p.Asn288Thr)
n.693A>C
n.254A>C
c.911A>C (p.Asn304Thr)
n.305A>C
c.803A>C (p.Asn268Thr)
c.206A>C (p.Asn69Thr)
c.884A>C (p.Asn295Thr)
21g.37490400A>GCA409947789DYRK1Ac.890A>G (p.Asn297Ser)
c.776A>G (p.Asn259Ser)
c.863A>G (p.Asn288Ser)
n.693A>G
n.254A>G
c.911A>G (p.Asn304Ser)
n.305A>G
c.803A>G (p.Asn268Ser)
c.206A>G (p.Asn69Ser)
c.884A>G (p.Asn295Ser)
21g.37490400A>TCA409947790DYRK1Ac.890A>T (p.Asn297Ile)
c.776A>T (p.Asn259Ile)
c.863A>T (p.Asn288Ile)
n.693A>T
n.254A>T
c.911A>T (p.Asn304Ile)
n.305A>T
c.803A>T (p.Asn268Ile)
c.206A>T (p.Asn69Ile)
c.884A>T (p.Asn295Ile)
21g.37490401C>ACA409947791DYRK1Ac.891C>A (p.Asn297Lys)
c.777C>A (p.Asn259Lys)
c.864C>A (p.Asn288Lys)
n.694C>A
n.255C>A
c.912C>A (p.Asn304Lys)
n.306C>A
c.804C>A (p.Asn268Lys)
c.207C>A (p.Asn69Lys)
c.885C>A (p.Asn295Lys)
21g.37490401C=CA2388495808DYRK1Ac.891C= (p.Asn297=)
c.777C= (p.Asn259=)
c.864C= (p.Asn288=)
n.694C=
n.255C=
c.912C= (p.Asn304=)
n.306C=
c.804C= (p.Asn268=)
c.207C= (p.Asn69=)
c.885C= (p.Asn295=)
21g.37490401C>GCA409947792DYRK1Ac.891C>G (p.Asn297Lys)
c.777C>G (p.Asn259Lys)
c.864C>G (p.Asn288Lys)
n.694C>G
n.255C>G
c.912C>G (p.Asn304Lys)
n.306C>G
c.804C>G (p.Asn268Lys)
c.207C>G (p.Asn69Lys)
c.885C>G (p.Asn295Lys)
21g.37490401C>TCA512327893DYRK1Ac.891C>T (p.Asn297=)
c.777C>T (p.Asn259=)
c.864C>T (p.Asn288=)
n.694C>T
n.255C>T
c.912C>T (p.Asn304=)
n.306C>T
c.804C>T (p.Asn268=)
c.207C>T (p.Asn69=)
c.885C>T (p.Asn295=)
 dbSNP gnomAD v4
21g.37490402C>ACA409947793DYRK1Ac.892C>A (p.Pro298Thr)
c.778C>A (p.Pro260Thr)
c.865C>A (p.Pro289Thr)
n.695C>A
n.256C>A
c.913C>A (p.Pro305Thr)
n.307C>A
c.805C>A (p.Pro269Thr)
c.208C>A (p.Pro70Thr)
c.886C>A (p.Pro296Thr)
 gnomAD v4
21g.37490402C>GCA409947795DYRK1Ac.892C>G (p.Pro298Ala)
c.778C>G (p.Pro260Ala)
c.865C>G (p.Pro289Ala)
n.695C>G
n.256C>G
c.913C>G (p.Pro305Ala)
n.307C>G
c.805C>G (p.Pro269Ala)
c.208C>G (p.Pro70Ala)
c.886C>G (p.Pro296Ala)
21g.37490402C>TCA409947794DYRK1Ac.892C>T (p.Pro298Ser)
c.778C>T (p.Pro260Ser)
c.865C>T (p.Pro289Ser)
n.695C>T
n.256C>T
c.913C>T (p.Pro305Ser)
n.307C>T
c.805C>T (p.Pro269Ser)
c.208C>T (p.Pro70Ser)
c.886C>T (p.Pro296Ser)
21g.37490403C>ACA409947796DYRK1Ac.893C>A (p.Pro298His)
c.779C>A (p.Pro260His)
c.866C>A (p.Pro289His)
n.696C>A
n.257C>A
c.914C>A (p.Pro305His)
n.308C>A
c.806C>A (p.Pro269His)
c.209C>A (p.Pro70His)
c.887C>A (p.Pro296His)
21g.37490403C>GCA409947797DYRK1Ac.893C>G (p.Pro298Arg)
c.779C>G (p.Pro260Arg)
c.866C>G (p.Pro289Arg)
n.696C>G
n.257C>G
c.914C>G (p.Pro305Arg)
n.308C>G
c.806C>G (p.Pro269Arg)
c.209C>G (p.Pro70Arg)
c.887C>G (p.Pro296Arg)
21g.37490403C>TCA409947798DYRK1Ac.893C>T (p.Pro298Leu)
c.779C>T (p.Pro260Leu)
c.866C>T (p.Pro289Leu)
n.696C>T
n.257C>T
c.914C>T (p.Pro305Leu)
n.308C>T
c.806C>T (p.Pro269Leu)
c.209C>T (p.Pro70Leu)
c.887C>T (p.Pro296Leu)
21g.37490404C>ACA512327896DYRK1Ac.894C>A (p.Pro298=)
c.780C>A (p.Pro260=)
c.867C>A (p.Pro289=)
n.697C>A
n.258C>A
c.915C>A (p.Pro305=)
n.309C>A
c.807C>A (p.Pro269=)
c.210C>A (p.Pro70=)
c.888C>A (p.Pro296=)
21g.37490404C=CA2388495809DYRK1Ac.894C= (p.Pro298=)
c.780C= (p.Pro260=)
c.867C= (p.Pro289=)
n.697C=
n.258C=
c.915C= (p.Pro305=)
n.309C=
c.807C= (p.Pro269=)
c.210C= (p.Pro70=)
c.888C= (p.Pro296=)
21g.37490404C>GCA512327897DYRK1Ac.894C>G (p.Pro298=)
c.780C>G (p.Pro260=)
c.867C>G (p.Pro289=)
n.697C>G
n.258C>G
c.915C>G (p.Pro305=)
n.309C>G
c.807C>G (p.Pro269=)
c.210C>G (p.Pro70=)
c.888C>G (p.Pro296=)
 gnomAD v4
21g.37490404C>TCA10023863DYRK1Ac.894C>T (p.Pro298=)
c.780C>T (p.Pro260=)
c.867C>T (p.Pro289=)
n.697C>T
n.258C>T
c.915C>T (p.Pro305=)
n.309C>T
c.807C>T (p.Pro269=)
c.210C>T (p.Pro70=)
c.888C>T (p.Pro296=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.37490405A>CCA409947799DYRK1Ac.895A>C (p.Lys299Gln)
c.781A>C (p.Lys261Gln)
c.868A>C (p.Lys290Gln)
n.698A>C
n.259A>C
c.916A>C (p.Lys306Gln)
n.310A>C
c.808A>C (p.Lys270Gln)
c.211A>C (p.Lys71Gln)
c.889A>C (p.Lys297Gln)
21g.37490405A>GCA409947800DYRK1Ac.895A>G (p.Lys299Glu)
c.781A>G (p.Lys261Glu)
c.868A>G (p.Lys290Glu)
n.698A>G
n.259A>G
c.916A>G (p.Lys306Glu)
n.310A>G
c.808A>G (p.Lys270Glu)
c.211A>G (p.Lys71Glu)
c.889A>G (p.Lys297Glu)
21g.37490405A>TCA409947801DYRK1Ac.895A>T (p.Lys299Ter)
c.781A>T (p.Lys261Ter)
c.868A>T (p.Lys290Ter)
n.698A>T
n.259A>T
c.916A>T (p.Lys306Ter)
n.310A>T
c.808A>T (p.Lys270Ter)
c.211A>T (p.Lys71Ter)
c.889A>T (p.Lys297Ter)
21g.37490406A=CA2388495810DYRK1Ac.896A= (p.Lys299=)
c.782A= (p.Lys261=)
c.869A= (p.Lys290=)
n.699A=
n.260A=
c.917A= (p.Lys306=)
n.311A=
c.809A= (p.Lys270=)
c.212A= (p.Lys71=)
c.890A= (p.Lys297=)
21g.37490406A>CCA409947802DYRK1Ac.896A>C (p.Lys299Thr)
c.782A>C (p.Lys261Thr)
c.869A>C (p.Lys290Thr)
n.699A>C
n.260A>C
c.917A>C (p.Lys306Thr)
n.311A>C
c.809A>C (p.Lys270Thr)
c.212A>C (p.Lys71Thr)
c.890A>C (p.Lys297Thr)
21g.37490406A>GCA320483557DYRK1Ac.896A>G (p.Lys299Arg)
c.782A>G (p.Lys261Arg)
c.869A>G (p.Lys290Arg)
n.699A>G
n.260A>G
c.917A>G (p.Lys306Arg)
n.311A>G
c.809A>G (p.Lys270Arg)
c.212A>G (p.Lys71Arg)
c.890A>G (p.Lys297Arg)
 dbSNP gnomAD v4
21g.37490406A>TCA409947803DYRK1Ac.896A>T (p.Lys299Ile)
c.782A>T (p.Lys261Ile)
c.869A>T (p.Lys290Ile)
n.699A>T
n.260A>T
c.917A>T (p.Lys306Ile)
n.311A>T
c.809A>T (p.Lys270Ile)
c.212A>T (p.Lys71Ile)
c.890A>T (p.Lys297Ile)
21g.37490408_37490409insACACCCAACCA2817845507DYRK1Ac.898_899insACACCCAAC (p.Lys299_Arg300insHisThrGln)
c.784_785insACACCCAAC (p.Lys261_Arg262insHisThrGln)
c.871_872insACACCCAAC (p.Lys290_Arg291insHisThrGln)
n.701_702insACACCCAAC
n.262_263insACACCCAAC
c.919_920insACACCCAAC (p.Lys306_Arg307insHisThrGln)
n.313_314insACACCCAAC
c.811_812insACACCCAAC (p.Lys270_Arg271insHisThrGln)
c.214_215insACACCCAAC (p.Lys71_Arg72insHisThrGln)
c.892_893insACACCCAAC (p.Lys297_Arg298insHisThrGln)
21g.37490407A=CA2388495811DYRK1Ac.897A= (p.Lys299=)
c.783A= (p.Lys261=)
c.870A= (p.Lys290=)
n.700A=
n.261A=
c.918A= (p.Lys306=)
n.312A=
c.810A= (p.Lys270=)
c.213A= (p.Lys71=)
c.891A= (p.Lys297=)
21g.37490407A>CCA409947805DYRK1Ac.897A>C (p.Lys299Asn)
c.783A>C (p.Lys261Asn)
c.870A>C (p.Lys290Asn)
n.700A>C
n.261A>C
c.918A>C (p.Lys306Asn)
n.312A>C
c.810A>C (p.Lys270Asn)
c.213A>C (p.Lys71Asn)
c.891A>C (p.Lys297Asn)
21g.37490407A>GCA10023864DYRK1Ac.897A>G (p.Lys299=)
c.783A>G (p.Lys261=)
c.870A>G (p.Lys290=)
n.700A>G
n.261A>G
c.918A>G (p.Lys306=)
n.312A>G
c.810A>G (p.Lys270=)
c.213A>G (p.Lys71=)
c.891A>G (p.Lys297=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.37490407A>TCA409947804DYRK1Ac.897A>T (p.Lys299Asn)
c.783A>T (p.Lys261Asn)
c.870A>T (p.Lys290Asn)
n.700A>T
n.261A>T
c.918A>T (p.Lys306Asn)
n.312A>T
c.810A>T (p.Lys270Asn)
c.213A>T (p.Lys71Asn)
c.891A>T (p.Lys297Asn)
21g.37490408C>ACA409947806DYRK1Ac.898C>A (p.Arg300Ser)
c.784C>A (p.Arg262Ser)
c.871C>A (p.Arg291Ser)
n.701C>A
n.262C>A
c.919C>A (p.Arg307Ser)
n.313C>A
c.811C>A (p.Arg271Ser)
c.214C>A (p.Arg72Ser)
c.892C>A (p.Arg298Ser)
21g.37490408C=CA2388495812DYRK1Ac.898C= (p.Arg300=)
c.784C= (p.Arg262=)
c.871C= (p.Arg291=)
n.701C=
n.262C=
c.919C= (p.Arg307=)
n.313C=
c.811C= (p.Arg271=)
c.214C= (p.Arg72=)
c.892C= (p.Arg298=)
21g.37490408C>GCA409947807DYRK1Ac.898C>G (p.Arg300Gly)
c.784C>G (p.Arg262Gly)
c.871C>G (p.Arg291Gly)
n.701C>G
n.262C>G
c.919C>G (p.Arg307Gly)
n.313C>G
c.811C>G (p.Arg271Gly)
c.214C>G (p.Arg72Gly)
c.892C>G (p.Arg298Gly)
21g.37490408C>TCA409947808DYRK1Ac.898C>T (p.Arg300Cys)
c.784C>T (p.Arg262Cys)
c.871C>T (p.Arg291Cys)
n.701C>T
n.262C>T
c.919C>T (p.Arg307Cys)
n.313C>T
c.811C>T (p.Arg271Cys)
c.214C>T (p.Arg72Cys)
c.892C>T (p.Arg298Cys)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
21g.37490409G>ACA409947809DYRK1Ac.899G>A (p.Arg300His)
c.785G>A (p.Arg262His)
c.872G>A (p.Arg291His)
n.702G>A
n.263G>A
c.920G>A (p.Arg307His)
n.314G>A
c.812G>A (p.Arg271His)
c.215G>A (p.Arg72His)
c.893G>A (p.Arg298His)
 ClinVar COSMIC COSMIC
21g.37490409G>CCA409947810DYRK1Ac.899G>C (p.Arg300Pro)
c.785G>C (p.Arg262Pro)
c.872G>C (p.Arg291Pro)
n.702G>C
n.263G>C
c.920G>C (p.Arg307Pro)
n.314G>C
c.812G>C (p.Arg271Pro)
c.215G>C (p.Arg72Pro)
c.893G>C (p.Arg298Pro)
 COSMIC COSMIC COSMIC
21g.37490409G>TCA409947811DYRK1Ac.899G>T (p.Arg300Leu)
c.785G>T (p.Arg262Leu)
c.872G>T (p.Arg291Leu)
n.702G>T
n.263G>T
c.920G>T (p.Arg307Leu)
n.314G>T
c.812G>T (p.Arg271Leu)
c.215G>T (p.Arg72Leu)
c.893G>T (p.Arg298Leu)
21g.37490410C>ACA512327902DYRK1Ac.900C>A (p.Arg300=)
c.786C>A (p.Arg262=)
c.873C>A (p.Arg291=)
n.703C>A
n.264C>A
c.921C>A (p.Arg307=)
n.315C>A
c.813C>A (p.Arg271=)
c.216C>A (p.Arg72=)
c.894C>A (p.Arg298=)
21g.37490410C=CA2388495813DYRK1Ac.900C= (p.Arg300=)
c.786C= (p.Arg262=)
c.873C= (p.Arg291=)
n.703C=
n.264C=
c.921C= (p.Arg307=)
n.315C=
c.813C= (p.Arg271=)
c.216C= (p.Arg72=)
c.894C= (p.Arg298=)
21g.37490410C>GCA512327903DYRK1Ac.900C>G (p.Arg300=)
c.786C>G (p.Arg262=)
c.873C>G (p.Arg291=)
n.703C>G
n.264C>G
c.921C>G (p.Arg307=)
n.315C>G
c.813C>G (p.Arg271=)
c.216C>G (p.Arg72=)
c.894C>G (p.Arg298=)
21g.37490410C>TCA512327904DYRK1Ac.900C>T (p.Arg300=)
c.786C>T (p.Arg262=)
c.873C>T (p.Arg291=)
n.703C>T
n.264C>T
c.921C>T (p.Arg307=)
n.315C>T
c.813C>T (p.Arg271=)
c.216C>T (p.Arg72=)
c.894C>T (p.Arg298=)
 dbSNP gnomAD v2
21g.37490411A>CCA409947814DYRK1Ac.901A>C (p.Ser301Arg)
c.787A>C (p.Ser263Arg)
c.874A>C (p.Ser292Arg)
n.704A>C
n.265A>C
c.922A>C (p.Ser308Arg)
n.316A>C
c.814A>C (p.Ser272Arg)
c.217A>C (p.Ser73Arg)
c.895A>C (p.Ser299Arg)
21g.37490411A>GCA409947812DYRK1Ac.901A>G (p.Ser301Gly)
c.787A>G (p.Ser263Gly)
c.874A>G (p.Ser292Gly)
n.704A>G
n.265A>G
c.922A>G (p.Ser308Gly)
n.316A>G
c.814A>G (p.Ser272Gly)
c.217A>G (p.Ser73Gly)
c.895A>G (p.Ser299Gly)
21g.37490411A>TCA409947813DYRK1Ac.901A>T (p.Ser301Cys)
c.787A>T (p.Ser263Cys)
c.874A>T (p.Ser292Cys)
n.704A>T
n.265A>T
c.922A>T (p.Ser308Cys)
n.316A>T
c.814A>T (p.Ser272Cys)
c.217A>T (p.Ser73Cys)
c.895A>T (p.Ser299Cys)
21g.37490412G>ACA409947815DYRK1Ac.902G>A (p.Ser301Asn)
c.788G>A (p.Ser263Asn)
c.875G>A (p.Ser292Asn)
n.705G>A
n.266G>A
c.923G>A (p.Ser308Asn)
n.317G>A
c.815G>A (p.Ser272Asn)
c.218G>A (p.Ser73Asn)
c.896G>A (p.Ser299Asn)
21g.37490412G>CCA409947816DYRK1Ac.902G>C (p.Ser301Thr)
c.788G>C (p.Ser263Thr)
c.875G>C (p.Ser292Thr)
n.705G>C
n.266G>C
c.923G>C (p.Ser308Thr)
n.317G>C
c.815G>C (p.Ser272Thr)
c.218G>C (p.Ser73Thr)
c.896G>C (p.Ser299Thr)
21g.37490412G>TCA409947817DYRK1Ac.902G>T (p.Ser301Ile)
c.788G>T (p.Ser263Ile)
c.875G>T (p.Ser292Ile)
n.705G>T
n.266G>T
c.923G>T (p.Ser308Ile)
n.317G>T
c.815G>T (p.Ser272Ile)
c.218G>T (p.Ser73Ile)
c.896G>T (p.Ser299Ile)
21g.37490413T>ACA409947818DYRK1Ac.903T>A (p.Ser301Arg)
c.789T>A (p.Ser263Arg)
c.876T>A (p.Ser292Arg)
n.706T>A
n.267T>A
c.924T>A (p.Ser308Arg)
n.318T>A
c.816T>A (p.Ser272Arg)
c.219T>A (p.Ser73Arg)
c.897T>A (p.Ser299Arg)
21g.37490413T>CCA512327907DYRK1Ac.903T>C (p.Ser301=)
c.789T>C (p.Ser263=)
c.876T>C (p.Ser292=)
n.706T>C
n.267T>C
c.924T>C (p.Ser308=)
n.318T>C
c.816T>C (p.Ser272=)
c.219T>C (p.Ser73=)
c.897T>C (p.Ser299=)
21g.37490413T>GCA409947819DYRK1Ac.903T>G (p.Ser301Arg)
c.789T>G (p.Ser263Arg)
c.876T>G (p.Ser292Arg)
n.706T>G
n.267T>G
c.924T>G (p.Ser308Arg)
n.318T>G
c.816T>G (p.Ser272Arg)
c.219T>G (p.Ser73Arg)
c.897T>G (p.Ser299Arg)
21g.37490414G>ACA409947822DYRK1Ac.904G>A (p.Ala302Thr)
c.790G>A (p.Ala264Thr)
c.877G>A (p.Ala293Thr)
n.707G>A
n.268G>A
c.925G>A (p.Ala309Thr)
n.319G>A
c.817G>A (p.Ala273Thr)
c.220G>A (p.Ala74Thr)
c.898G>A (p.Ala300Thr)
21g.37490414G>CCA409947820DYRK1Ac.904G>C (p.Ala302Pro)
c.790G>C (p.Ala264Pro)
c.877G>C (p.Ala293Pro)
n.707G>C
n.268G>C
c.925G>C (p.Ala309Pro)
n.319G>C
c.817G>C (p.Ala273Pro)
c.220G>C (p.Ala74Pro)
c.898G>C (p.Ala300Pro)
21g.37490414G>TCA409947821DYRK1Ac.904G>T (p.Ala302Ser)
c.790G>T (p.Ala264Ser)
c.877G>T (p.Ala293Ser)
n.707G>T
n.268G>T
c.925G>T (p.Ala309Ser)
n.319G>T
c.817G>T (p.Ala273Ser)
c.220G>T (p.Ala74Ser)
c.898G>T (p.Ala300Ser)
21g.37490415C>ACA409947823DYRK1Ac.905C>A (p.Ala302Glu)
c.791C>A (p.Ala264Glu)
c.878C>A (p.Ala293Glu)
n.708C>A
n.269C>A
c.926C>A (p.Ala309Glu)
n.320C>A
c.818C>A (p.Ala273Glu)
c.221C>A (p.Ala74Glu)
c.899C>A (p.Ala300Glu)
21g.37490415C>GCA409947824DYRK1Ac.905C>G (p.Ala302Gly)
c.791C>G (p.Ala264Gly)
c.878C>G (p.Ala293Gly)
n.708C>G
n.269C>G
c.926C>G (p.Ala309Gly)
n.320C>G
c.818C>G (p.Ala273Gly)
c.221C>G (p.Ala74Gly)
c.899C>G (p.Ala300Gly)
21g.37490415C>TCA409947825DYRK1Ac.905C>T (p.Ala302Val)
c.791C>T (p.Ala264Val)
c.878C>T (p.Ala293Val)
n.708C>T
n.269C>T
c.926C>T (p.Ala309Val)
n.320C>T
c.818C>T (p.Ala273Val)
c.221C>T (p.Ala74Val)
c.899C>T (p.Ala300Val)
21g.37490416A>CCA512327910DYRK1Ac.906A>C (p.Ala302=)
c.792A>C (p.Ala264=)
c.879A>C (p.Ala293=)
n.709A>C
n.270A>C
c.927A>C (p.Ala309=)
n.321A>C
c.819A>C (p.Ala273=)
c.222A>C (p.Ala74=)
c.900A>C (p.Ala300=)
21g.37490416A>GCA512327912DYRK1Ac.906A>G (p.Ala302=)
c.792A>G (p.Ala264=)
c.879A>G (p.Ala293=)
n.709A>G
n.270A>G
c.927A>G (p.Ala309=)
n.321A>G
c.819A>G (p.Ala273=)
c.222A>G (p.Ala74=)
c.900A>G (p.Ala300=)
21g.37490416A>TCA512327911DYRK1Ac.906A>T (p.Ala302=)
c.792A>T (p.Ala264=)
c.879A>T (p.Ala293=)
n.709A>T
n.270A>T
c.927A>T (p.Ala309=)
n.321A>T
c.819A>T (p.Ala273=)
c.222A>T (p.Ala74=)
c.900A>T (p.Ala300=)
21g.37490416_37490417insCAGAAAAAAAAAATGACCTGACCCATATGATATCTTAACCTTATATTCCTCA658769003DYRK1Ac.906_907insCAGAAAAAAAAAATGACCTGACCCATATGATATCTTAACCTTATATTCCT (p.Ile303GlnfsTer7)
c.792_793insCAGAAAAAAAAAATGACCTGACCCATATGATATCTTAACCTTATATTCCT (p.Ile265GlnfsTer7)
c.879_880insCAGAAAAAAAAAATGACCTGACCCATATGATATCTTAACCTTATATTCCT (p.Ile294GlnfsTer7)
n.709_710insCAGAAAAAAAAAATGACCTGACCCATATGATATCTTAACCTTATATTCCT
n.270_271insCAGAAAAAAAAAATGACCTGACCCATATGATATCTTAACCTTATATTCCT
c.927_928insCAGAAAAAAAAAATGACCTGACCCATATGATATCTTAACCTTATATTCCT (p.Ile310GlnfsTer7)
n.321_322insCAGAAAAAAAAAATGACCTGACCCATATGATATCTTAACCTTATATTCCT
c.819_820insCAGAAAAAAAAAATGACCTGACCCATATGATATCTTAACCTTATATTCCT (p.Ile274GlnfsTer7)
c.222_223insCAGAAAAAAAAAATGACCTGACCCATATGATATCTTAACCTTATATTCCT (p.Ile75GlnfsTer7)
c.900_901insCAGAAAAAAAAAATGACCTGACCCATATGATATCTTAACCTTATATTCCT (p.Ile301GlnfsTer7)
21g.37490417A=CA2388495814DYRK1Ac.907A= (p.Ile303=)
c.793A= (p.Ile265=)
c.880A= (p.Ile294=)
n.710A=
n.271A=
c.928A= (p.Ile310=)
n.322A=
c.820A= (p.Ile274=)
c.223A= (p.Ile75=)
c.901A= (p.Ile301=)
21g.37490417A>CCA409947826DYRK1Ac.907A>C (p.Ile303Leu)
c.793A>C (p.Ile265Leu)
c.880A>C (p.Ile294Leu)
n.710A>C
n.271A>C
c.928A>C (p.Ile310Leu)
n.322A>C
c.820A>C (p.Ile274Leu)
c.223A>C (p.Ile75Leu)
c.901A>C (p.Ile301Leu)
21g.37490417A>GCA10023865DYRK1Ac.907A>G (p.Ile303Val)
c.793A>G (p.Ile265Val)
c.880A>G (p.Ile294Val)
n.710A>G
n.271A>G
c.928A>G (p.Ile310Val)
n.322A>G
c.820A>G (p.Ile274Val)
c.223A>G (p.Ile75Val)
c.901A>G (p.Ile301Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.37490417A>TCA409947827DYRK1Ac.907A>T (p.Ile303Phe)
c.793A>T (p.Ile265Phe)
c.880A>T (p.Ile294Phe)
n.710A>T
n.271A>T
c.928A>T (p.Ile310Phe)
n.322A>T
c.820A>T (p.Ile274Phe)
c.223A>T (p.Ile75Phe)
c.901A>T (p.Ile301Phe)
21g.37490418T>ACA409947828DYRK1Ac.908T>A (p.Ile303Asn)
c.794T>A (p.Ile265Asn)
c.881T>A (p.Ile294Asn)
n.711T>A
n.272T>A
c.929T>A (p.Ile310Asn)
n.323T>A
c.821T>A (p.Ile274Asn)
c.224T>A (p.Ile75Asn)
c.902T>A (p.Ile301Asn)
21g.37490418T>CCA409947829DYRK1Ac.908T>C (p.Ile303Thr)
c.794T>C (p.Ile265Thr)
c.881T>C (p.Ile294Thr)
n.711T>C
n.272T>C
c.929T>C (p.Ile310Thr)
n.323T>C
c.821T>C (p.Ile274Thr)
c.224T>C (p.Ile75Thr)
c.902T>C (p.Ile301Thr)
21g.37490418T>GCA409947830DYRK1Ac.908T>G (p.Ile303Ser)
c.794T>G (p.Ile265Ser)
c.881T>G (p.Ile294Ser)
n.711T>G
n.272T>G
c.929T>G (p.Ile310Ser)
n.323T>G
c.821T>G (p.Ile274Ser)
c.224T>G (p.Ile75Ser)
c.902T>G (p.Ile301Ser)
21g.37490419C>ACA512327917DYRK1Ac.909C>A (p.Ile303=)
c.795C>A (p.Ile265=)
c.882C>A (p.Ile294=)
n.712C>A
n.273C>A
c.930C>A (p.Ile310=)
n.324C>A
c.822C>A (p.Ile274=)
c.225C>A (p.Ile75=)
c.903C>A (p.Ile301=)
21g.37490419C>GCA409947831DYRK1Ac.909C>G (p.Ile303Met)
c.795C>G (p.Ile265Met)
c.882C>G (p.Ile294Met)
n.712C>G
n.273C>G
c.930C>G (p.Ile310Met)
n.324C>G
c.822C>G (p.Ile274Met)
c.225C>G (p.Ile75Met)
c.903C>G (p.Ile301Met)
21g.37490419C>TCA512327916DYRK1Ac.909C>T (p.Ile303=)
c.795C>T (p.Ile265=)
c.882C>T (p.Ile294=)
n.712C>T
n.273C>T
c.930C>T (p.Ile310=)
n.324C>T
c.822C>T (p.Ile274=)
c.225C>T (p.Ile75=)
c.903C>T (p.Ile301=)
21g.37490420A>CCA409947832DYRK1Ac.910A>C (p.Lys304Gln)
c.796A>C (p.Lys266Gln)
c.883A>C (p.Lys295Gln)
n.713A>C
n.274A>C
c.931A>C (p.Lys311Gln)
n.325A>C
c.823A>C (p.Lys275Gln)
c.226A>C (p.Lys76Gln)
c.904A>C (p.Lys302Gln)
21g.37490420A>GCA409947833DYRK1Ac.910A>G (p.Lys304Glu)
c.796A>G (p.Lys266Glu)
c.883A>G (p.Lys295Glu)
n.713A>G
n.274A>G
c.931A>G (p.Lys311Glu)
n.325A>G
c.823A>G (p.Lys275Glu)
c.226A>G (p.Lys76Glu)
c.904A>G (p.Lys302Glu)
21g.37490420A>TCA409947834DYRK1Ac.910A>T (p.Lys304Ter)
c.796A>T (p.Lys266Ter)
c.883A>T (p.Lys295Ter)
n.713A>T
n.274A>T
c.931A>T (p.Lys311Ter)
n.325A>T
c.823A>T (p.Lys275Ter)
c.226A>T (p.Lys76Ter)
c.904A>T (p.Lys302Ter)
21g.37490421A>CCA409947835DYRK1Ac.911A>C (p.Lys304Thr)
c.797A>C (p.Lys266Thr)
c.884A>C (p.Lys295Thr)
n.714A>C
n.275A>C
c.932A>C (p.Lys311Thr)
n.326A>C
c.824A>C (p.Lys275Thr)
c.227A>C (p.Lys76Thr)
c.905A>C (p.Lys302Thr)
21g.37490421A>GCA409947837DYRK1Ac.911A>G (p.Lys304Arg)
c.797A>G (p.Lys266Arg)
c.884A>G (p.Lys295Arg)
n.714A>G
n.275A>G
c.932A>G (p.Lys311Arg)
n.326A>G
c.824A>G (p.Lys275Arg)
c.227A>G (p.Lys76Arg)
c.905A>G (p.Lys302Arg)
21g.37490421A>TCA409947836DYRK1Ac.911A>T (p.Lys304Met)
c.797A>T (p.Lys266Met)
c.884A>T (p.Lys295Met)
n.714A>T
n.275A>T
c.932A>T (p.Lys311Met)
n.326A>T
c.824A>T (p.Lys275Met)
c.227A>T (p.Lys76Met)
c.905A>T (p.Lys302Met)
21g.37490422G>ACA512327918DYRK1Ac.912G>A (p.Lys304=)
c.798G>A (p.Lys266=)
c.885G>A (p.Lys295=)
n.715G>A
n.276G>A
c.933G>A (p.Lys311=)
n.327G>A
c.825G>A (p.Lys275=)
c.228G>A (p.Lys76=)
c.906G>A (p.Lys302=)
21g.37490422G>CCA409947838DYRK1Ac.912G>C (p.Lys304Asn)
c.798G>C (p.Lys266Asn)
c.885G>C (p.Lys295Asn)
n.715G>C
n.276G>C
c.933G>C (p.Lys311Asn)
n.327G>C
c.825G>C (p.Lys275Asn)
c.228G>C (p.Lys76Asn)
c.906G>C (p.Lys302Asn)
21g.37490422G>TCA409947839DYRK1Ac.912G>T (p.Lys304Asn)
c.798G>T (p.Lys266Asn)
c.885G>T (p.Lys295Asn)
n.715G>T
n.276G>T
c.933G>T (p.Lys311Asn)
n.327G>T
c.825G>T (p.Lys275Asn)
c.228G>T (p.Lys76Asn)
c.906G>T (p.Lys302Asn)
21g.37490423A=CA2388495815DYRK1Ac.913A= (p.Ile305=)
c.799A= (p.Ile267=)
c.886A= (p.Ile296=)
n.716A=
n.277A=
c.934A= (p.Ile312=)
n.328A=
c.826A= (p.Ile276=)
c.229A= (p.Ile77=)
c.907A= (p.Ile303=)
21g.37490423A>CCA409947840DYRK1Ac.913A>C (p.Ile305Leu)
c.799A>C (p.Ile267Leu)
c.886A>C (p.Ile296Leu)
n.716A>C
n.277A>C
c.934A>C (p.Ile312Leu)
n.328A>C
c.826A>C (p.Ile276Leu)
c.229A>C (p.Ile77Leu)
c.907A>C (p.Ile303Leu)
21g.37490423A>GCA409947841DYRK1Ac.913A>G (p.Ile305Val)
c.799A>G (p.Ile267Val)
c.886A>G (p.Ile296Val)
n.716A>G
n.277A>G
c.934A>G (p.Ile312Val)
n.328A>G
c.826A>G (p.Ile276Val)
c.229A>G (p.Ile77Val)
c.907A>G (p.Ile303Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.37490423A>TCA409947842DYRK1Ac.913A>T (p.Ile305Leu)
c.799A>T (p.Ile267Leu)
c.886A>T (p.Ile296Leu)
n.716A>T
n.277A>T
c.934A>T (p.Ile312Leu)
n.328A>T
c.826A>T (p.Ile276Leu)
c.229A>T (p.Ile77Leu)
c.907A>T (p.Ile303Leu)
21g.37490424T>ACA409947843DYRK1Ac.914T>A (p.Ile305Lys)
c.800T>A (p.Ile267Lys)
c.887T>A (p.Ile296Lys)
n.717T>A
n.278T>A
c.935T>A (p.Ile312Lys)
n.329T>A
c.827T>A (p.Ile276Lys)
c.230T>A (p.Ile77Lys)
c.908T>A (p.Ile303Lys)
21g.37490424T>CCA409947844DYRK1Ac.914T>C (p.Ile305Thr)
c.800T>C (p.Ile267Thr)
c.887T>C (p.Ile296Thr)
n.717T>C
n.278T>C
c.935T>C (p.Ile312Thr)
n.329T>C
c.827T>C (p.Ile276Thr)
c.230T>C (p.Ile77Thr)
c.908T>C (p.Ile303Thr)
21g.37490424T>GCA409947845DYRK1Ac.914T>G (p.Ile305Arg)
c.800T>G (p.Ile267Arg)
c.887T>G (p.Ile296Arg)
n.717T>G
n.278T>G
c.935T>G (p.Ile312Arg)
n.329T>G
c.827T>G (p.Ile276Arg)
c.230T>G (p.Ile77Arg)
c.908T>G (p.Ile303Arg)
 ClinVar dbSNP
21g.37490424dupCA658769004DYRK1Ac.914dup (p.Val306SerfsTer2)
c.800dup (p.Val268SerfsTer2)
c.887dup (p.Val297SerfsTer2)
n.717dup
n.278dup
c.935dup (p.Val313SerfsTer2)
n.329dup
c.827dup (p.Val277SerfsTer2)
c.230dup (p.Val78SerfsTer2)
c.908dup (p.Val304SerfsTer2)
21g.37490424_37490429delCA2695230165DYRK1Ac.914_919del (p.Ile305_Asp307delinsAsn)
c.800_805del (p.Ile267_Asp269delinsAsn)
c.887_892del (p.Ile296_Asp298delinsAsn)
n.717_722del
n.278_283del
c.935_940del (p.Ile312_Asp314delinsAsn)
n.329_334del
c.827_832del (p.Ile276_Asp278delinsAsn)
c.230_235del (p.Ile77_Asp79delinsAsn)
c.908_913del (p.Ile303_Asp305delinsAsn)
21g.37490425A>CCA512327921DYRK1Ac.915A>C (p.Ile305=)
c.801A>C (p.Ile267=)
c.888A>C (p.Ile296=)
n.718A>C
n.279A>C
c.936A>C (p.Ile312=)
n.330A>C
c.828A>C (p.Ile276=)
c.231A>C (p.Ile77=)
c.909A>C (p.Ile303=)
21g.37490425A>GCA409947846DYRK1Ac.915A>G (p.Ile305Met)
c.801A>G (p.Ile267Met)
c.888A>G (p.Ile296Met)
n.718A>G
n.279A>G
c.936A>G (p.Ile312Met)
n.330A>G
c.828A>G (p.Ile276Met)
c.231A>G (p.Ile77Met)
c.909A>G (p.Ile303Met)
21g.37490425A>TCA512327922DYRK1Ac.915A>T (p.Ile305=)
c.801A>T (p.Ile267=)
c.888A>T (p.Ile296=)
n.718A>T
n.279A>T
c.936A>T (p.Ile312=)
n.330A>T
c.828A>T (p.Ile276=)
c.231A>T (p.Ile77=)
c.909A>T (p.Ile303=)
21g.37490426G>ACA409947847DYRK1Ac.916G>A (p.Val306Ile)
c.802G>A (p.Val268Ile)
c.889G>A (p.Val297Ile)
n.719G>A
n.280G>A
c.937G>A (p.Val313Ile)
n.331G>A
c.829G>A (p.Val277Ile)
c.232G>A (p.Val78Ile)
c.910G>A (p.Val304Ile)
21g.37490426G>CCA409947848DYRK1Ac.916G>C (p.Val306Leu)
c.802G>C (p.Val268Leu)
c.889G>C (p.Val297Leu)
n.719G>C
n.280G>C
c.937G>C (p.Val313Leu)
n.331G>C
c.829G>C (p.Val277Leu)
c.232G>C (p.Val78Leu)
c.910G>C (p.Val304Leu)
21g.37490426G>TCA409947849DYRK1Ac.916G>T (p.Val306Phe)
c.802G>T (p.Val268Phe)
c.889G>T (p.Val297Phe)
n.719G>T
n.280G>T
c.937G>T (p.Val313Phe)
n.331G>T
c.829G>T (p.Val277Phe)
c.232G>T (p.Val78Phe)
c.910G>T (p.Val304Phe)
21g.37490427T>ACA409947851DYRK1Ac.917T>A (p.Val306Asp)
c.803T>A (p.Val268Asp)
c.890T>A (p.Val297Asp)
n.720T>A
n.281T>A
c.938T>A (p.Val313Asp)
n.332T>A
c.830T>A (p.Val277Asp)
c.233T>A (p.Val78Asp)
c.911T>A (p.Val304Asp)
21g.37490427T>CCA409947852DYRK1Ac.917T>C (p.Val306Ala)
c.803T>C (p.Val268Ala)
c.890T>C (p.Val297Ala)
n.720T>C
n.281T>C
c.938T>C (p.Val313Ala)
n.332T>C
c.830T>C (p.Val277Ala)
c.233T>C (p.Val78Ala)
c.911T>C (p.Val304Ala)
21g.37490427T>GCA409947850DYRK1Ac.917T>G (p.Val306Gly)
c.803T>G (p.Val268Gly)
c.890T>G (p.Val297Gly)
n.720T>G
n.281T>G
c.938T>G (p.Val313Gly)
n.332T>G
c.830T>G (p.Val277Gly)
c.233T>G (p.Val78Gly)
c.911T>G (p.Val304Gly)
21g.37490428delCA1022232344DYRK1Ac.918del (p.Asp307ThrfsTer?)
c.804del (p.Asp269ThrfsTer?)
c.891del (p.Asp298ThrfsTer?)
n.721del
n.282del
c.939del (p.Asp314ThrfsTer?)
n.333del
c.831del (p.Asp278ThrfsTer?)
c.234del (p.Asp79ThrfsTer?)
c.912del (p.Asp305ThrfsTer?)
 gnomAD v3 gnomAD v4
21g.37490428T>ACA512327924DYRK1Ac.918T>A (p.Val306=)
c.804T>A (p.Val268=)
c.891T>A (p.Val297=)
n.721T>A
n.282T>A
c.939T>A (p.Val313=)
n.333T>A
c.831T>A (p.Val277=)
c.234T>A (p.Val78=)
c.912T>A (p.Val304=)
21g.37490428T>CCA512327926DYRK1Ac.918T>C (p.Val306=)
c.804T>C (p.Val268=)
c.891T>C (p.Val297=)
n.721T>C
n.282T>C
c.939T>C (p.Val313=)
n.333T>C
c.831T>C (p.Val277=)
c.234T>C (p.Val78=)
c.912T>C (p.Val304=)
21g.37490428T>GCA512327925DYRK1Ac.918T>G (p.Val306=)
c.804T>G (p.Val268=)
c.891T>G (p.Val297=)
n.721T>G
n.282T>G
c.939T>G (p.Val313=)
n.333T>G
c.831T>G (p.Val277=)
c.234T>G (p.Val78=)
c.912T>G (p.Val304=)
21g.37490429G>ACA409947853DYRK1Ac.919G>A (p.Asp307Asn)
c.805G>A (p.Asp269Asn)
c.892G>A (p.Asp298Asn)
n.722G>A
n.283G>A
c.940G>A (p.Asp314Asn)
n.334G>A
c.832G>A (p.Asp278Asn)
c.235G>A (p.Asp79Asn)
c.913G>A (p.Asp305Asn)
 COSMIC COSMIC
21g.37490429G>CCA409947854DYRK1Ac.919G>C (p.Asp307His)
c.805G>C (p.Asp269His)
c.892G>C (p.Asp298His)
n.722G>C
n.283G>C
c.940G>C (p.Asp314His)
n.334G>C
c.832G>C (p.Asp278His)
c.235G>C (p.Asp79His)
c.913G>C (p.Asp305His)
21g.37490429G>TCA409947855DYRK1Ac.919G>T (p.Asp307Tyr)
c.805G>T (p.Asp269Tyr)
c.892G>T (p.Asp298Tyr)
n.722G>T
n.283G>T
c.940G>T (p.Asp314Tyr)
n.334G>T
c.832G>T (p.Asp278Tyr)
c.235G>T (p.Asp79Tyr)
c.913G>T (p.Asp305Tyr)
21g.37490430A>CCA409947856DYRK1Ac.920A>C (p.Asp307Ala)
c.806A>C (p.Asp269Ala)
c.893A>C (p.Asp298Ala)
n.723A>C
n.284A>C
c.941A>C (p.Asp314Ala)
n.335A>C
c.833A>C (p.Asp278Ala)
c.236A>C (p.Asp79Ala)
c.914A>C (p.Asp305Ala)
21g.37490430A>GCA409947857DYRK1Ac.920A>G (p.Asp307Gly)
c.806A>G (p.Asp269Gly)
c.893A>G (p.Asp298Gly)
n.723A>G
n.284A>G
c.941A>G (p.Asp314Gly)
n.335A>G
c.833A>G (p.Asp278Gly)
c.236A>G (p.Asp79Gly)
c.914A>G (p.Asp305Gly)
21g.37490430A>TCA409947858DYRK1Ac.920A>T (p.Asp307Val)
c.806A>T (p.Asp269Val)
c.893A>T (p.Asp298Val)
n.723A>T
n.284A>T
c.941A>T (p.Asp314Val)
n.335A>T
c.833A>T (p.Asp278Val)
c.236A>T (p.Asp79Val)
c.914A>T (p.Asp305Val)
21g.37490431C>ACA409947859DYRK1Ac.921C>A (p.Asp307Glu)
c.807C>A (p.Asp269Glu)
c.894C>A (p.Asp298Glu)
n.724C>A
n.285C>A
c.942C>A (p.Asp314Glu)
n.336C>A
c.834C>A (p.Asp278Glu)
c.237C>A (p.Asp79Glu)
c.915C>A (p.Asp305Glu)
21g.37490431C>GCA409947860DYRK1Ac.921C>G (p.Asp307Glu)
c.807C>G (p.Asp269Glu)
c.894C>G (p.Asp298Glu)
n.724C>G
n.285C>G
c.942C>G (p.Asp314Glu)
n.336C>G
c.834C>G (p.Asp278Glu)
c.237C>G (p.Asp79Glu)
c.915C>G (p.Asp305Glu)
21g.37490431C>TCA512327928DYRK1Ac.921C>T (p.Asp307=)
c.807C>T (p.Asp269=)
c.894C>T (p.Asp298=)
n.724C>T
n.285C>T
c.942C>T (p.Asp314=)
n.336C>T
c.834C>T (p.Asp278=)
c.237C>T (p.Asp79=)
c.915C>T (p.Asp305=)
21g.37490432T>ACA409947861DYRK1Ac.922T>A (p.Phe308Ile)
c.808T>A (p.Phe270Ile)
c.895T>A (p.Phe299Ile)
n.725T>A
n.286T>A
c.943T>A (p.Phe315Ile)
n.337T>A
c.835T>A (p.Phe279Ile)
c.238T>A (p.Phe80Ile)
c.916T>A (p.Phe306Ile)
21g.37490432T>CCA409947862DYRK1Ac.922T>C (p.Phe308Leu)
c.808T>C (p.Phe270Leu)
c.895T>C (p.Phe299Leu)
n.725T>C
n.286T>C
c.943T>C (p.Phe315Leu)
n.337T>C
c.835T>C (p.Phe279Leu)
c.238T>C (p.Phe80Leu)
c.916T>C (p.Phe306Leu)
21g.37490432T>GCA278541DYRK1Ac.922T>G (p.Phe308Val)
c.808T>G (p.Phe270Val)
c.895T>G (p.Phe299Val)
n.725T>G
n.286T>G
c.943T>G (p.Phe315Val)
n.337T>G
c.835T>G (p.Phe279Val)
c.238T>G (p.Phe80Val)
c.916T>G (p.Phe306Val)
 ClinVar dbSNP
21g.37490432T=CA2388495816DYRK1Ac.922T= (p.Phe308=)
c.808T= (p.Phe270=)
c.895T= (p.Phe299=)
n.725T=
n.286T=
c.943T= (p.Phe315=)
n.337T=
c.835T= (p.Phe279=)
c.238T= (p.Phe80=)
c.916T= (p.Phe306=)
21g.37490433T>ACA409947863DYRK1Ac.923T>A (p.Phe308Tyr)
c.809T>A (p.Phe270Tyr)
c.896T>A (p.Phe299Tyr)
n.726T>A
n.287T>A
c.944T>A (p.Phe315Tyr)
n.338T>A
c.836T>A (p.Phe279Tyr)
c.239T>A (p.Phe80Tyr)
c.917T>A (p.Phe306Tyr)
21g.37490433T>CCA409947864DYRK1Ac.923T>C (p.Phe308Ser)
c.809T>C (p.Phe270Ser)
c.896T>C (p.Phe299Ser)
n.726T>C
n.287T>C
c.944T>C (p.Phe315Ser)
n.338T>C
c.836T>C (p.Phe279Ser)
c.239T>C (p.Phe80Ser)
c.917T>C (p.Phe306Ser)
 ClinVar dbSNP
21g.37490433T>GCA409947865DYRK1Ac.923T>G (p.Phe308Cys)
c.809T>G (p.Phe270Cys)
c.896T>G (p.Phe299Cys)
n.726T>G
n.287T>G
c.944T>G (p.Phe315Cys)
n.338T>G
c.836T>G (p.Phe279Cys)
c.239T>G (p.Phe80Cys)
c.917T>G (p.Phe306Cys)
21g.37490433T=CA2388495817DYRK1Ac.923T= (p.Phe308=)
c.809T= (p.Phe270=)
c.896T= (p.Phe299=)
n.726T=
n.287T=
c.944T= (p.Phe315=)
n.338T=
c.836T= (p.Phe279=)
c.239T= (p.Phe80=)
c.917T= (p.Phe306=)
21g.37490434T>ACA409947867DYRK1Ac.924T>A (p.Phe308Leu)
c.810T>A (p.Phe270Leu)
c.897T>A (p.Phe299Leu)
n.727T>A
n.288T>A
c.945T>A (p.Phe315Leu)
n.339T>A
c.837T>A (p.Phe279Leu)
c.240T>A (p.Phe80Leu)
c.918T>A (p.Phe306Leu)
21g.37490434T>CCA512327930DYRK1Ac.924T>C (p.Phe308=)
c.810T>C (p.Phe270=)
c.897T>C (p.Phe299=)
n.727T>C
n.288T>C
c.945T>C (p.Phe315=)
n.339T>C
c.837T>C (p.Phe279=)
c.240T>C (p.Phe80=)
c.918T>C (p.Phe306=)
21g.37490434T>GCA409947866DYRK1Ac.924T>G (p.Phe308Leu)
c.810T>G (p.Phe270Leu)
c.897T>G (p.Phe299Leu)
n.727T>G
n.288T>G
c.945T>G (p.Phe315Leu)
n.339T>G
c.837T>G (p.Phe279Leu)
c.240T>G (p.Phe80Leu)
c.918T>G (p.Phe306Leu)
21g.37490435G>ACA409947868DYRK1Ac.925G>A (p.Gly309Ser)
c.811G>A (p.Gly271Ser)
c.898G>A (p.Gly300Ser)
n.728G>A
n.289G>A
c.946G>A (p.Gly316Ser)
n.340G>A
c.838G>A (p.Gly280Ser)
c.241G>A (p.Gly81Ser)
c.919G>A (p.Gly307Ser)
21g.37490435G>CCA409947870DYRK1Ac.925G>C (p.Gly309Arg)
c.811G>C (p.Gly271Arg)
c.898G>C (p.Gly300Arg)
n.728G>C
n.289G>C
c.946G>C (p.Gly316Arg)
n.340G>C
c.838G>C (p.Gly280Arg)
c.241G>C (p.Gly81Arg)
c.919G>C (p.Gly307Arg)
21g.37490435G>TCA409947869DYRK1Ac.925G>T (p.Gly309Cys)
c.811G>T (p.Gly271Cys)
c.898G>T (p.Gly300Cys)
n.728G>T
n.289G>T
c.946G>T (p.Gly316Cys)
n.340G>T
c.838G>T (p.Gly280Cys)
c.241G>T (p.Gly81Cys)
c.919G>T (p.Gly307Cys)
 gnomAD v3 gnomAD v4
21g.37490436G>ACA409947871DYRK1Ac.926G>A (p.Gly309Asp)
c.812G>A (p.Gly271Asp)
c.899G>A (p.Gly300Asp)
n.729G>A
n.290G>A
c.947G>A (p.Gly316Asp)
n.341G>A
c.839G>A (p.Gly280Asp)
c.242G>A (p.Gly81Asp)
c.920G>A (p.Gly307Asp)
21g.37490436G>CCA409947873DYRK1Ac.926G>C (p.Gly309Ala)
c.812G>C (p.Gly271Ala)
c.899G>C (p.Gly300Ala)
n.729G>C
n.290G>C
c.947G>C (p.Gly316Ala)
n.341G>C
c.839G>C (p.Gly280Ala)
c.242G>C (p.Gly81Ala)
c.920G>C (p.Gly307Ala)
21g.37490436G>TCA409947872DYRK1Ac.926G>T (p.Gly309Val)
c.812G>T (p.Gly271Val)
c.899G>T (p.Gly300Val)
n.729G>T
n.290G>T
c.947G>T (p.Gly316Val)
n.341G>T
c.839G>T (p.Gly280Val)
c.242G>T (p.Gly81Val)
c.920G>T (p.Gly307Val)
21g.37490437C>ACA512327932DYRK1Ac.927C>A (p.Gly309=)
c.813C>A (p.Gly271=)
c.900C>A (p.Gly300=)
n.730C>A
n.291C>A
c.948C>A (p.Gly316=)
n.342C>A
c.840C>A (p.Gly280=)
c.243C>A (p.Gly81=)
c.921C>A (p.Gly307=)
21g.37490437C>GCA512327933DYRK1Ac.927C>G (p.Gly309=)
c.813C>G (p.Gly271=)
c.900C>G (p.Gly300=)
n.730C>G
n.291C>G
c.948C>G (p.Gly316=)
n.342C>G
c.840C>G (p.Gly280=)
c.243C>G (p.Gly81=)
c.921C>G (p.Gly307=)
21g.37490437C>TCA512327934DYRK1Ac.927C>T (p.Gly309=)
c.813C>T (p.Gly271=)
c.900C>T (p.Gly300=)
n.730C>T
n.291C>T
c.948C>T (p.Gly316=)
n.342C>T
c.840C>T (p.Gly280=)
c.243C>T (p.Gly81=)
c.921C>T (p.Gly307=)
 COSMIC COSMIC
21g.37490438A>CCA409947874DYRK1Ac.928A>C (p.Ser310Arg)
c.814A>C (p.Ser272Arg)
c.901A>C (p.Ser301Arg)
n.731A>C
n.292A>C
c.949A>C (p.Ser317Arg)
n.343A>C
c.841A>C (p.Ser281Arg)
c.244A>C (p.Ser82Arg)
c.922A>C (p.Ser308Arg)
21g.37490438A>GCA409947876DYRK1Ac.928A>G (p.Ser310Gly)
c.814A>G (p.Ser272Gly)
c.901A>G (p.Ser301Gly)
n.731A>G
n.292A>G
c.949A>G (p.Ser317Gly)
n.343A>G
c.841A>G (p.Ser281Gly)
c.244A>G (p.Ser82Gly)
c.922A>G (p.Ser308Gly)
21g.37490438A>TCA409947875DYRK1Ac.928A>T (p.Ser310Cys)
c.814A>T (p.Ser272Cys)
c.901A>T (p.Ser301Cys)
n.731A>T
n.292A>T
c.949A>T (p.Ser317Cys)
n.343A>T
c.841A>T (p.Ser281Cys)
c.244A>T (p.Ser82Cys)
c.922A>T (p.Ser308Cys)
21g.37490439G>ACA409947877DYRK1Ac.929G>A (p.Ser310Asn)
c.815G>A (p.Ser272Asn)
c.902G>A (p.Ser301Asn)
n.732G>A
n.293G>A
c.950G>A (p.Ser317Asn)
n.344G>A
c.842G>A (p.Ser281Asn)
c.245G>A (p.Ser82Asn)
c.923G>A (p.Ser308Asn)
 ClinVar
21g.37490439G>CCA409947878DYRK1Ac.929G>C (p.Ser310Thr)
c.815G>C (p.Ser272Thr)
c.902G>C (p.Ser301Thr)
n.732G>C
n.293G>C
c.950G>C (p.Ser317Thr)
n.344G>C
c.842G>C (p.Ser281Thr)
c.245G>C (p.Ser82Thr)
c.923G>C (p.Ser308Thr)
21g.37490439G>TCA409947879DYRK1Ac.929G>T (p.Ser310Ile)
c.815G>T (p.Ser272Ile)
c.902G>T (p.Ser301Ile)
n.732G>T
n.293G>T
c.950G>T (p.Ser317Ile)
n.344G>T
c.842G>T (p.Ser281Ile)
c.245G>T (p.Ser82Ile)
c.923G>T (p.Ser308Ile)

Number of alleles fetched