Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.34886940_34886967delinsTGGTCGGCCAGCACCTCCACCATGCTGCCA2387297159RUNX1c.227_254delinsGCAGCATGGTGGAGGTGCTGGCCGACCA (p.Arg76=)
c.146_173delinsGCAGCATGGTGGAGGTGCTGGCCGACCA (p.Arg49=)
c.191_218delinsGCAGCATGGTGGAGGTGCTGGCCGACCA (p.Arg64=)
c.188_215delinsGCAGCATGGTGGAGGTGCTGGCCGACCA (p.Arg63=)
c.59-6254_59-6227delinsGCAGCATGGTGGAGGTGCTGGCCGACCA (n.59-6254_59-6227delinsGCAGCATGGTGGAGGTGCTGGCCGACCA)
n.406_433delinsGCAGCATGGTGGAGGTGCTGGCCGACCA
c.74_101delinsGCAGCATGGTGGAGGTGCTGGCCGACCA (p.Arg25=)
n.453_480delinsGCAGCATGGTGGAGGTGCTGGCCGACCA
21g.34886946_34886972delCA2387297160RUNX1c.227_253del (p.Arg76_Asp84del)
c.146_172del (p.Arg49_Asp57del)
c.191_217del (p.Arg64_Asp72del)
c.188_214del (p.Arg63_Asp71del)
c.59-6254_59-6228del (n.59-6254_59-6228del)
n.406_432del
c.74_100del (p.Arg25_Asp33del)
n.453_479del
dbSNP
21g.34886948dupCA2499225883RUNX1c.247dup (p.Ala83GlyfsTer?)
c.166dup (p.Ala56GlyfsTer?)
c.211dup (p.Ala71GlyfsTer?)
c.208dup (p.Ala70GlyfsTer?)
c.59-6234dup (n.59-6234dup)
n.426dup
c.94dup (p.Ala32GlyfsTer?)
n.473dup
ClinVar dbSNP
21g.34886948C>ACA512318891RUNX1c.246G>T (p.Leu82=)
c.165G>T (p.Leu55=)
c.210G>T (p.Leu70=)
c.207G>T (p.Leu69=)
c.59-6235G>T (n.59-6235G>T)
n.425G>T
c.93G>T (p.Leu31=)
n.472G>T
21g.34886948C=CA2387297166RUNX1c.246G= (p.Leu82=)
c.165G= (p.Leu55=)
c.210G= (p.Leu70=)
c.207G= (p.Leu69=)
c.59-6235G= (n.59-6235G=)
n.425G=
c.93G= (p.Leu31=)
n.472G=
21g.34886948C>GCA512318892RUNX1c.246G>C (p.Leu82=)
c.165G>C (p.Leu55=)
c.210G>C (p.Leu70=)
c.207G>C (p.Leu69=)
c.59-6235G>C (n.59-6235G>C)
n.425G>C
c.93G>C (p.Leu31=)
n.472G>C
21g.34886948C>TCA512318890RUNX1c.246G>A (p.Leu82=)
c.165G>A (p.Leu55=)
c.210G>A (p.Leu70=)
c.207G>A (p.Leu69=)
c.59-6235G>A (n.59-6235G>A)
n.425G>A
c.93G>A (p.Leu31=)
n.472G>A
dbSNP
21g.34886949A>CCA410203812RUNX1c.245T>G (p.Leu82Arg)
c.164T>G (p.Leu55Arg)
c.209T>G (p.Leu70Arg)
c.206T>G (p.Leu69Arg)
c.59-6236T>G (n.59-6236T>G)
n.424T>G
c.92T>G (p.Leu31Arg)
n.471T>G
dbSNP
21g.34886949A>GCA410203813RUNX1c.245T>C (p.Leu82Pro)
c.164T>C (p.Leu55Pro)
c.209T>C (p.Leu70Pro)
c.206T>C (p.Leu69Pro)
c.59-6236T>C (n.59-6236T>C)
n.424T>C
c.92T>C (p.Leu31Pro)
n.471T>C
dbSNP
21g.34886949A>TCA410203814RUNX1c.245T>A (p.Leu82Gln)
c.164T>A (p.Leu55Gln)
c.209T>A (p.Leu70Gln)
c.206T>A (p.Leu69Gln)
c.59-6236T>A (n.59-6236T>A)
n.424T>A
c.92T>A (p.Leu31Gln)
n.471T>A
ClinVar dbSNP
21g.34886949_34886950insAGCAACA645607450RUNX1c.245_246insTGCTT (p.Asp84TrpfsTer?)
c.164_165insTGCTT (p.Asp57TrpfsTer?)
c.209_210insTGCTT (p.Asp72TrpfsTer?)
c.206_207insTGCTT (p.Asp71TrpfsTer?)
c.59-6236_59-6235insTGCTT (n.59-6236_59-6235insTGCTT)
n.424_425insTGCTT
c.92_93insTGCTT (p.Asp33TrpfsTer?)
n.471_472insTGCTT
COSMIC
21g.34886949dupCA2740097782RUNX1c.245dup (p.Ala83GlyfsTer?)
c.164dup (p.Ala56GlyfsTer?)
c.209dup (p.Ala71GlyfsTer?)
c.206dup (p.Ala70GlyfsTer?)
c.59-6236dup (n.59-6236dup)
n.424dup
c.92dup (p.Ala32GlyfsTer?)
n.471dup
21g.34886950G>ACA512318893RUNX1c.244C>T (p.Leu82=)
c.163C>T (p.Leu55=)
c.208C>T (p.Leu70=)
c.205C>T (p.Leu69=)
c.59-6237C>T (n.59-6237C>T)
n.423C>T
c.91C>T (p.Leu31=)
n.470C>T
gnomAD v4
21g.34886950G>CCA410203815RUNX1c.244C>G (p.Leu82Val)
c.163C>G (p.Leu55Val)
c.208C>G (p.Leu70Val)
c.205C>G (p.Leu69Val)
c.59-6237C>G (n.59-6237C>G)
n.423C>G
c.91C>G (p.Leu31Val)
n.470C>G
21g.34886950G>TCA410203816RUNX1c.244C>A (p.Leu82Met)
c.163C>A (p.Leu55Met)
c.208C>A (p.Leu70Met)
c.205C>A (p.Leu69Met)
c.59-6237C>A (n.59-6237C>A)
n.423C>A
c.91C>A (p.Leu31Met)
n.470C>A
21g.34886950_34886956delinsGCACCTCCA2387297167RUNX1c.238_244delinsGAGGTGC (p.Glu80=)
c.157_163delinsGAGGTGC (p.Glu53=)
c.202_208delinsGAGGTGC (p.Glu68=)
c.199_205delinsGAGGTGC (p.Glu67=)
c.59-6243_59-6237delinsGAGGTGC (n.59-6243_59-6237delinsGAGGTGC)
n.417_423delinsGAGGTGC
c.85_91delinsGAGGTGC (p.Glu29=)
n.464_470delinsGAGGTGC
21g.34886951C>ACA512318896RUNX1c.243G>T (p.Val81=)
c.162G>T (p.Val54=)
c.207G>T (p.Val69=)
c.204G>T (p.Val68=)
c.59-6238G>T (n.59-6238G>T)
n.422G>T
c.90G>T (p.Val30=)
n.469G>T
21g.34886951C>GCA512318895RUNX1c.243G>C (p.Val81=)
c.162G>C (p.Val54=)
c.207G>C (p.Val69=)
c.204G>C (p.Val68=)
c.59-6238G>C (n.59-6238G>C)
n.422G>C
c.90G>C (p.Val30=)
n.469G>C
ClinVar
21g.34886951C>TCA512318894RUNX1c.243G>A (p.Val81=)
c.162G>A (p.Val54=)
c.207G>A (p.Val69=)
c.204G>A (p.Val68=)
c.59-6238G>A (n.59-6238G>A)
n.422G>A
c.90G>A (p.Val30=)
n.469G>A
ClinVar dbSNP
21g.34886952_34886953dupCA645607451RUNX1c.242_243dup (p.Leu82CysfsTer?)
c.161_162dup (p.Leu55CysfsTer?)
c.206_207dup (p.Leu70CysfsTer?)
c.203_204dup (p.Leu69CysfsTer?)
c.59-6239_59-6238dup (n.59-6239_59-6238dup)
n.421_422dup
c.89_90dup (p.Leu31CysfsTer?)
n.468_469dup
COSMIC
21g.34886955_34886960delCA10014564RUNX1c.238_243del (p.Glu80_Val81del)
c.157_162del (p.Glu53_Val54del)
c.202_207del (p.Glu68_Val69del)
c.199_204del (p.Glu67_Val68del)
c.59-6243_59-6238del (n.59-6243_59-6238del)
n.417_422del
c.85_90del (p.Glu29_Val30del)
n.464_469del
ClinVar dbSNP ExAC gnomAD v2
21g.34886952A=CA2387297168RUNX1c.242T= (p.Val81=)
c.161T= (p.Val54=)
c.206T= (p.Val69=)
c.203T= (p.Val68=)
c.59-6239T= (n.59-6239T=)
n.421T=
c.89T= (p.Val30=)
n.468T=
21g.34886952A>CCA410203819RUNX1c.242T>G (p.Val81Gly)
c.161T>G (p.Val54Gly)
c.206T>G (p.Val69Gly)
c.203T>G (p.Val68Gly)
c.59-6239T>G (n.59-6239T>G)
n.421T>G
c.89T>G (p.Val30Gly)
n.468T>G
dbSNP
21g.34886952A>GCA410203818RUNX1c.242T>C (p.Val81Ala)
c.161T>C (p.Val54Ala)
c.206T>C (p.Val69Ala)
c.203T>C (p.Val68Ala)
c.59-6239T>C (n.59-6239T>C)
n.421T>C
c.89T>C (p.Val30Ala)
n.468T>C
ClinVar dbSNP
21g.34886952A>TCA410203817RUNX1c.242T>A (p.Val81Glu)
c.161T>A (p.Val54Glu)
c.206T>A (p.Val69Glu)
c.203T>A (p.Val68Glu)
c.59-6239T>A (n.59-6239T>A)
n.421T>A
c.89T>A (p.Val30Glu)
n.468T>A
dbSNP
21g.34886952_34886954delinsACCCA2387297169RUNX1c.240_242delinsGGT (p.Glu80=)
c.159_161delinsGGT (p.Glu53=)
c.204_206delinsGGT (p.Glu68=)
c.201_203delinsGGT (p.Glu67=)
c.59-6241_59-6239delinsGGT (n.59-6241_59-6239delinsGGT)
n.419_421delinsGGT
c.87_89delinsGGT (p.Glu29=)
n.466_468delinsGGT
21g.34886953C>ACA410203820RUNX1c.241G>T (p.Val81Leu)
c.160G>T (p.Val54Leu)
c.205G>T (p.Val69Leu)
c.202G>T (p.Val68Leu)
c.59-6240G>T (n.59-6240G>T)
n.420G>T
c.88G>T (p.Val30Leu)
n.467G>T
dbSNP
21g.34886953C>GCA410203821RUNX1c.241G>C (p.Val81Leu)
c.160G>C (p.Val54Leu)
c.205G>C (p.Val69Leu)
c.202G>C (p.Val68Leu)
c.59-6240G>C (n.59-6240G>C)
n.420G>C
c.88G>C (p.Val30Leu)
n.467G>C
21g.34886953C>TCA410203822RUNX1c.241G>A (p.Val81Met)
c.160G>A (p.Val54Met)
c.205G>A (p.Val69Met)
c.202G>A (p.Val68Met)
c.59-6240G>A (n.59-6240G>A)
n.420G>A
c.88G>A (p.Val30Met)
n.467G>A
dbSNP
21g.34886953_34886954delCA658824422RUNX1c.240_241del (p.Glu80AspfsTer?)
c.159_160del (p.Glu53AspfsTer?)
c.204_205del (p.Glu68AspfsTer?)
c.201_202del (p.Glu67AspfsTer?)
c.59-6241_59-6240del (n.59-6241_59-6240del)
n.419_420del
c.87_88del (p.Glu29AspfsTer?)
n.466_467del
ClinVar dbSNP
21g.34886954dupCA645607452RUNX1c.241dup (p.Val81GlyfsTer?)
c.160dup (p.Val54GlyfsTer?)
c.205dup (p.Val69GlyfsTer?)
c.202dup (p.Val68GlyfsTer?)
c.59-6240dup (n.59-6240dup)
n.420dup
c.88dup (p.Val30GlyfsTer?)
n.467dup
COSMIC
21g.34886954delCA2017999289RUNX1c.241del (p.Val81CysfsTer?)
c.160del (p.Val54CysfsTer?)
c.205del (p.Val69CysfsTer?)
c.202del (p.Val68CysfsTer?)
c.59-6240del (n.59-6240del)
n.420del
c.88del (p.Val30CysfsTer?)
n.467del
21g.34886954C>ACA410203823RUNX1c.240G>T (p.Glu80Asp)
c.159G>T (p.Glu53Asp)
c.204G>T (p.Glu68Asp)
c.201G>T (p.Glu67Asp)
c.59-6241G>T (n.59-6241G>T)
n.419G>T
c.87G>T (p.Glu29Asp)
n.466G>T
21g.34886954C>GCA410203824RUNX1c.240G>C (p.Glu80Asp)
c.159G>C (p.Glu53Asp)
c.204G>C (p.Glu68Asp)
c.201G>C (p.Glu67Asp)
c.59-6241G>C (n.59-6241G>C)
n.419G>C
c.87G>C (p.Glu29Asp)
n.466G>C
21g.34886954C>TCA512318897RUNX1c.240G>A (p.Glu80=)
c.159G>A (p.Glu53=)
c.204G>A (p.Glu68=)
c.201G>A (p.Glu67=)
c.59-6241G>A (n.59-6241G>A)
n.419G>A
c.87G>A (p.Glu29=)
n.466G>A
21g.34886954_34886955insGCA512318898RUNX1c.239_240insC (p.Glu80AspfsTer?)
c.158_159insC (p.Glu53AspfsTer?)
c.203_204insC (p.Glu68AspfsTer?)
c.200_201insC (p.Glu67AspfsTer?)
c.59-6242_59-6241insC (n.59-6242_59-6241insC)
n.418_419insC
c.86_87insC (p.Glu29AspfsTer?)
n.465_466insC
21g.34886955T>ACA410203827RUNX1c.239A>T (p.Glu80Val)
c.158A>T (p.Glu53Val)
c.203A>T (p.Glu68Val)
c.200A>T (p.Glu67Val)
c.59-6242A>T (n.59-6242A>T)
n.418A>T
c.86A>T (p.Glu29Val)
n.465A>T
dbSNP
21g.34886955T>CCA410203826RUNX1c.239A>G (p.Glu80Gly)
c.158A>G (p.Glu53Gly)
c.203A>G (p.Glu68Gly)
c.200A>G (p.Glu67Gly)
c.59-6242A>G (n.59-6242A>G)
n.418A>G
c.86A>G (p.Glu29Gly)
n.465A>G
dbSNP
21g.34886955T>GCA410203825RUNX1c.239A>C (p.Glu80Ala)
c.158A>C (p.Glu53Ala)
c.203A>C (p.Glu68Ala)
c.200A>C (p.Glu67Ala)
c.59-6242A>C (n.59-6242A>C)
n.418A>C
c.86A>C (p.Glu29Ala)
n.465A>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.34886955T=CA2387297170RUNX1c.239A= (p.Glu80=)
c.158A= (p.Glu53=)
c.203A= (p.Glu68=)
c.200A= (p.Glu67=)
c.59-6242A= (n.59-6242A=)
n.418A=
c.86A= (p.Glu29=)
n.465A=
21g.34886956C>ACA410203828RUNX1c.238G>T (p.Glu80Ter)
c.157G>T (p.Glu53Ter)
c.202G>T (p.Glu68Ter)
c.199G>T (p.Glu67Ter)
c.59-6243G>T (n.59-6243G>T)
n.417G>T
c.85G>T (p.Glu29Ter)
n.464G>T
dbSNP
21g.34886956C=CA2387297171RUNX1c.238G= (p.Glu80=)
c.157G= (p.Glu53=)
c.202G= (p.Glu68=)
c.199G= (p.Glu67=)
c.59-6243G= (n.59-6243G=)
n.417G=
c.85G= (p.Glu29=)
n.464G=
21g.34886956C>GCA410203829RUNX1c.238G>C (p.Glu80Gln)
c.157G>C (p.Glu53Gln)
c.202G>C (p.Glu68Gln)
c.199G>C (p.Glu67Gln)
c.59-6243G>C (n.59-6243G>C)
n.417G>C
c.85G>C (p.Glu29Gln)
n.464G>C
dbSNP
21g.34886956C>TCA10014565RUNX1c.238G>A (p.Glu80Lys)
c.157G>A (p.Glu53Lys)
c.202G>A (p.Glu68Lys)
c.199G>A (p.Glu67Lys)
c.59-6243G>A (n.59-6243G>A)
n.417G>A
c.85G>A (p.Glu29Lys)
n.464G>A
dbSNP ExAC gnomAD v2 gnomAD v4
21g.34886957dupCA645607453RUNX1c.238dup (p.Glu80GlyfsTer?)
c.157dup (p.Glu53GlyfsTer?)
c.202dup (p.Glu68GlyfsTer?)
c.199dup (p.Glu67GlyfsTer?)
c.59-6243dup (n.59-6243dup)
n.417dup
c.85dup (p.Glu29GlyfsTer?)
n.464dup
COSMIC
21g.34886957delCA2737785213RUNX1c.238del (p.Glu80ArgfsTer?)
c.157del (p.Glu53ArgfsTer?)
c.202del (p.Glu68ArgfsTer?)
c.199del (p.Glu67ArgfsTer?)
c.59-6243del (n.59-6243del)
n.417del
c.85del (p.Glu29ArgfsTer?)
n.464del
dbSNP
21g.34886956_34886957insGCA512318902RUNX1c.237_238insC (p.Glu80ArgfsTer?)
c.156_157insC (p.Glu53ArgfsTer?)
c.201_202insC (p.Glu68ArgfsTer?)
c.198_199insC (p.Glu67ArgfsTer?)
c.59-6244_59-6243insC (n.59-6244_59-6243insC)
n.416_417insC
c.84_85insC (p.Glu29ArgfsTer?)
n.463_464insC
21g.34886957C>ACA512318900RUNX1c.237G>T (p.Val79=)
c.156G>T (p.Val52=)
c.201G>T (p.Val67=)
c.198G>T (p.Val66=)
c.59-6244G>T (n.59-6244G>T)
n.416G>T
c.84G>T (p.Val28=)
n.463G>T
21g.34886957C=CA2387297172RUNX1c.237G= (p.Val79=)
c.156G= (p.Val52=)
c.201G= (p.Val67=)
c.198G= (p.Val66=)
c.59-6244G= (n.59-6244G=)
n.416G=
c.84G= (p.Val28=)
n.463G=
21g.34886957C>GCA512318901RUNX1c.237G>C (p.Val79=)
c.156G>C (p.Val52=)
c.201G>C (p.Val67=)
c.198G>C (p.Val66=)
c.59-6244G>C (n.59-6244G>C)
n.416G>C
c.84G>C (p.Val28=)
n.463G>C
21g.34886957C>TCA512318899RUNX1c.237G>A (p.Val79=)
c.156G>A (p.Val52=)
c.201G>A (p.Val67=)
c.198G>A (p.Val66=)
c.59-6244G>A (n.59-6244G>A)
n.416G>A
c.84G>A (p.Val28=)
n.463G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.34886958A=CA2387297173RUNX1c.236T= (p.Val79=)
c.155T= (p.Val52=)
c.200T= (p.Val67=)
c.197T= (p.Val66=)
c.59-6245T= (n.59-6245T=)
n.415T=
c.83T= (p.Val28=)
n.462T=
21g.34886958A>CCA410203830RUNX1c.236T>G (p.Val79Gly)
c.155T>G (p.Val52Gly)
c.200T>G (p.Val67Gly)
c.197T>G (p.Val66Gly)
c.59-6245T>G (n.59-6245T>G)
n.415T>G
c.83T>G (p.Val28Gly)
n.462T>G
dbSNP
21g.34886958A>GCA410203831RUNX1c.236T>C (p.Val79Ala)
c.155T>C (p.Val52Ala)
c.200T>C (p.Val67Ala)
c.197T>C (p.Val66Ala)
c.59-6245T>C (n.59-6245T>C)
n.415T>C
c.83T>C (p.Val28Ala)
n.462T>C
ClinVar dbSNP
21g.34886958A>TCA410203832RUNX1c.236T>A (p.Val79Glu)
c.155T>A (p.Val52Glu)
c.200T>A (p.Val67Glu)
c.197T>A (p.Val66Glu)
c.59-6245T>A (n.59-6245T>A)
n.415T>A
c.83T>A (p.Val28Glu)
n.462T>A
ClinVar dbSNP gnomAD v4
21g.34886958dupCA891842380RUNX1c.236dup (p.Glu80GlyfsTer?)
c.155dup (p.Glu53GlyfsTer?)
c.200dup (p.Glu68GlyfsTer?)
c.197dup (p.Glu67GlyfsTer?)
c.59-6245dup (n.59-6245dup)
n.415dup
c.83dup (p.Glu29GlyfsTer?)
n.462dup
21g.34886959C>ACA410203833RUNX1c.235G>T (p.Val79Leu)
c.154G>T (p.Val52Leu)
c.199G>T (p.Val67Leu)
c.196G>T (p.Val66Leu)
c.59-6246G>T (n.59-6246G>T)
n.414G>T
c.82G>T (p.Val28Leu)
n.461G>T
21g.34886959C=CA2387297174RUNX1c.235G= (p.Val79=)
c.154G= (p.Val52=)
c.199G= (p.Val67=)
c.196G= (p.Val66=)
c.59-6246G= (n.59-6246G=)
n.414G=
c.82G= (p.Val28=)
n.461G=
21g.34886959C>GCA410203835RUNX1c.235G>C (p.Val79Leu)
c.154G>C (p.Val52Leu)
c.199G>C (p.Val67Leu)
c.196G>C (p.Val66Leu)
c.59-6246G>C (n.59-6246G>C)
n.414G>C
c.82G>C (p.Val28Leu)
n.461G>C
21g.34886959C>TCA410203834RUNX1c.235G>A (p.Val79Met)
c.154G>A (p.Val52Met)
c.199G>A (p.Val67Met)
c.196G>A (p.Val66Met)
c.59-6246G>A (n.59-6246G>A)
n.414G>A
c.82G>A (p.Val28Met)
n.461G>A
dbSNP gnomAD v2 gnomAD v4
21g.34886960C>ACA410203836RUNX1c.234G>T (p.Met78Ile)
c.153G>T (p.Met51Ile)
c.198G>T (p.Met66Ile)
c.195G>T (p.Met65Ile)
c.59-6247G>T (n.59-6247G>T)
n.413G>T
c.81G>T (p.Met27Ile)
n.460G>T
dbSNP
21g.34886960C>GCA410203837RUNX1c.234G>C (p.Met78Ile)
c.153G>C (p.Met51Ile)
c.198G>C (p.Met66Ile)
c.195G>C (p.Met65Ile)
c.59-6247G>C (n.59-6247G>C)
n.413G>C
c.81G>C (p.Met27Ile)
n.460G>C
gnomAD v4
21g.34886960C>TCA410203838RUNX1c.234G>A (p.Met78Ile)
c.153G>A (p.Met51Ile)
c.198G>A (p.Met66Ile)
c.195G>A (p.Met65Ile)
c.59-6247G>A (n.59-6247G>A)
n.413G>A
c.81G>A (p.Met27Ile)
n.460G>A
ClinVar dbSNP gnomAD v4
21g.34886961A=CA2387297175RUNX1c.233T= (p.Met78=)
c.152T= (p.Met51=)
c.197T= (p.Met66=)
c.194T= (p.Met65=)
c.59-6248T= (n.59-6248T=)
n.412T=
c.80T= (p.Met27=)
n.459T=
21g.34886961A>CCA410203839RUNX1c.233T>G (p.Met78Arg)
c.152T>G (p.Met51Arg)
c.197T>G (p.Met66Arg)
c.194T>G (p.Met65Arg)
c.59-6248T>G (n.59-6248T>G)
n.412T>G
c.80T>G (p.Met27Arg)
n.459T>G
dbSNP
21g.34886961A>GCA410203840RUNX1c.233T>C (p.Met78Thr)
c.152T>C (p.Met51Thr)
c.197T>C (p.Met66Thr)
c.194T>C (p.Met65Thr)
c.59-6248T>C (n.59-6248T>C)
n.412T>C
c.80T>C (p.Met27Thr)
n.459T>C
ClinVar dbSNP
21g.34886961A>TCA410203841RUNX1c.233T>A (p.Met78Lys)
c.152T>A (p.Met51Lys)
c.197T>A (p.Met66Lys)
c.194T>A (p.Met65Lys)
c.59-6248T>A (n.59-6248T>A)
n.412T>A
c.80T>A (p.Met27Lys)
n.459T>A
dbSNP
21g.34886961dupCA645607454RUNX1c.233dup (p.Met78IlefsTer?)
c.152dup (p.Met51IlefsTer?)
c.197dup (p.Met66IlefsTer?)
c.194dup (p.Met65IlefsTer?)
c.59-6248dup (n.59-6248dup)
n.412dup
c.80dup (p.Met27IlefsTer?)
n.459dup
COSMIC COSMIC
21g.34886962T>ACA10583885RUNX1c.232A>T (p.Met78Leu)
c.151A>T (p.Met51Leu)
c.196A>T (p.Met66Leu)
c.193A>T (p.Met65Leu)
c.59-6249A>T (n.59-6249A>T)
n.411A>T
c.79A>T (p.Met27Leu)
n.458A>T
ClinVar dbSNP
21g.34886962T>CCA410203842RUNX1c.232A>G (p.Met78Val)
c.151A>G (p.Met51Val)
c.196A>G (p.Met66Val)
c.193A>G (p.Met65Val)
c.59-6249A>G (n.59-6249A>G)
n.411A>G
c.79A>G (p.Met27Val)
n.458A>G
ClinVar dbSNP gnomAD v4
21g.34886962T>GCA410203843RUNX1c.232A>C (p.Met78Leu)
c.151A>C (p.Met51Leu)
c.196A>C (p.Met66Leu)
c.193A>C (p.Met65Leu)
c.59-6249A>C (n.59-6249A>C)
n.411A>C
c.79A>C (p.Met27Leu)
n.458A>C
ClinVar dbSNP gnomAD v4
21g.34886962T=CA2387297176RUNX1c.232A= (p.Met78=)
c.151A= (p.Met51=)
c.196A= (p.Met66=)
c.193A= (p.Met65=)
c.59-6249A= (n.59-6249A=)
n.411A=
c.79A= (p.Met27=)
n.458A=
21g.34886963G>ACA512318903RUNX1c.231C>T (p.Ser77=)
c.150C>T (p.Ser50=)
c.195C>T (p.Ser65=)
c.192C>T (p.Ser64=)
c.59-6250C>T (n.59-6250C>T)
n.410C>T
c.78C>T (p.Ser26=)
n.457C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.34886963G>CCA410203844RUNX1c.231C>G (p.Ser77Arg)
c.150C>G (p.Ser50Arg)
c.195C>G (p.Ser65Arg)
c.192C>G (p.Ser64Arg)
c.59-6250C>G (n.59-6250C>G)
n.410C>G
c.78C>G (p.Ser26Arg)
n.457C>G
dbSNP
21g.34886963G=CA2387297177RUNX1c.231C= (p.Ser77=)
c.150C= (p.Ser50=)
c.195C= (p.Ser65=)
c.192C= (p.Ser64=)
c.59-6250C= (n.59-6250C=)
n.410C=
c.78C= (p.Ser26=)
n.457C=
21g.34886963G>TCA410203845RUNX1c.231C>A (p.Ser77Arg)
c.150C>A (p.Ser50Arg)
c.195C>A (p.Ser65Arg)
c.192C>A (p.Ser64Arg)
c.59-6250C>A (n.59-6250C>A)
n.410C>A
c.78C>A (p.Ser26Arg)
n.457C>A
21g.34886964_34886968delCA2654380326RUNX1c.227_231del (p.Arg76HisfsTer?)
c.146_150del (p.Arg49HisfsTer?)
c.191_195del (p.Arg64HisfsTer?)
c.188_192del (p.Arg63HisfsTer?)
c.59-6254_59-6250del (n.59-6254_59-6250del)
n.406_410del
c.74_78del (p.Arg25HisfsTer?)
n.453_457del
gnomAD v4
21g.34886964C>ACA410203847RUNX1c.230G>T (p.Ser77Ile)
c.149G>T (p.Ser50Ile)
c.194G>T (p.Ser65Ile)
c.191G>T (p.Ser64Ile)
c.59-6251G>T (n.59-6251G>T)
n.409G>T
c.77G>T (p.Ser26Ile)
n.456G>T
dbSNP
21g.34886964C=CA2387297178RUNX1c.230G= (p.Ser77=)
c.149G= (p.Ser50=)
c.194G= (p.Ser65=)
c.191G= (p.Ser64=)
c.59-6251G= (n.59-6251G=)
n.409G=
c.77G= (p.Ser26=)
n.456G=
21g.34886964C>GCA410203848RUNX1c.230G>C (p.Ser77Thr)
c.149G>C (p.Ser50Thr)
c.194G>C (p.Ser65Thr)
c.191G>C (p.Ser64Thr)
c.59-6251G>C (n.59-6251G>C)
n.409G>C
c.77G>C (p.Ser26Thr)
n.456G>C
dbSNP
21g.34886964C>TCA410203846RUNX1c.230G>A (p.Ser77Asn)
c.149G>A (p.Ser50Asn)
c.194G>A (p.Ser65Asn)
c.191G>A (p.Ser64Asn)
c.59-6251G>A (n.59-6251G>A)
n.409G>A
c.77G>A (p.Ser26Asn)
n.456G>A
dbSNP gnomAD v2
21g.34886965T>ACA410203849RUNX1c.229A>T (p.Ser77Cys)
c.148A>T (p.Ser50Cys)
c.193A>T (p.Ser65Cys)
c.190A>T (p.Ser64Cys)
c.59-6252A>T (n.59-6252A>T)
n.408A>T
c.76A>T (p.Ser26Cys)
n.455A>T
dbSNP
21g.34886965T>CCA410203851RUNX1c.229A>G (p.Ser77Gly)
c.148A>G (p.Ser50Gly)
c.193A>G (p.Ser65Gly)
c.190A>G (p.Ser64Gly)
c.59-6252A>G (n.59-6252A>G)
n.408A>G
c.76A>G (p.Ser26Gly)
n.455A>G
COSMIC COSMIC
21g.34886965T>GCA410203850RUNX1c.229A>C (p.Ser77Arg)
c.148A>C (p.Ser50Arg)
c.193A>C (p.Ser65Arg)
c.190A>C (p.Ser64Arg)
c.59-6252A>C (n.59-6252A>C)
n.408A>C
c.76A>C (p.Ser26Arg)
n.455A>C
21g.34886966G>ACA512318905RUNX1c.228C>T (p.Arg76=)
c.147C>T (p.Arg49=)
c.192C>T (p.Arg64=)
c.189C>T (p.Arg63=)
c.59-6253C>T (n.59-6253C>T)
n.407C>T
c.75C>T (p.Arg25=)
n.454C>T
dbSNP
21g.34886966G>CCA512318906RUNX1c.228C>G (p.Arg76=)
c.147C>G (p.Arg49=)
c.192C>G (p.Arg64=)
c.189C>G (p.Arg63=)
c.59-6253C>G (n.59-6253C>G)
n.407C>G
c.75C>G (p.Arg25=)
n.454C>G
dbSNP
21g.34886966G>TCA512318904RUNX1c.228C>A (p.Arg76=)
c.147C>A (p.Arg49=)
c.192C>A (p.Arg64=)
c.189C>A (p.Arg63=)
c.59-6253C>A (n.59-6253C>A)
n.407C>A
c.75C>A (p.Arg25=)
n.454C>A
21g.34886966dupCA2697547499RUNX1c.228dup (p.Ser77GlnfsTer?)
c.147dup (p.Ser50GlnfsTer?)
c.192dup (p.Ser65GlnfsTer?)
c.189dup (p.Ser64GlnfsTer?)
c.59-6253dup (n.59-6253dup)
n.407dup
c.75dup (p.Ser26GlnfsTer?)
n.454dup
ClinVar
21g.34886967C>ACA410203852RUNX1c.227G>T (p.Arg76Leu)
c.146G>T (p.Arg49Leu)
c.191G>T (p.Arg64Leu)
c.188G>T (p.Arg63Leu)
c.59-6254G>T (n.59-6254G>T)
n.406G>T
c.74G>T (p.Arg25Leu)
n.453G>T
dbSNP
21g.34886967C=CA2387297179RUNX1c.227G= (p.Arg76=)
c.146G= (p.Arg49=)
c.191G= (p.Arg64=)
c.188G= (p.Arg63=)
c.59-6254G= (n.59-6254G=)
n.406G=
c.74G= (p.Arg25=)
n.453G=
21g.34886967C>GCA410203853RUNX1c.227G>C (p.Arg76Pro)
c.146G>C (p.Arg49Pro)
c.191G>C (p.Arg64Pro)
c.188G>C (p.Arg63Pro)
c.59-6254G>C (n.59-6254G>C)
n.406G>C
c.74G>C (p.Arg25Pro)
n.453G>C
ClinVar dbSNP gnomAD v4
21g.34886967C>TCA10014566RUNX1c.227G>A (p.Arg76His)
c.146G>A (p.Arg49His)
c.191G>A (p.Arg64His)
c.188G>A (p.Arg63His)
c.59-6254G>A (n.59-6254G>A)
n.406G>A
c.74G>A (p.Arg25His)
n.453G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
21g.34886968G>ACA410203854RUNX1c.226C>T (p.Arg76Cys)
c.145C>T (p.Arg49Cys)
c.190C>T (p.Arg64Cys)
c.187C>T (p.Arg63Cys)
c.59-6255C>T (n.59-6255C>T)
n.405C>T
c.73C>T (p.Arg25Cys)
n.452C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
21g.34886968G>CCA410203855RUNX1c.226C>G (p.Arg76Gly)
c.145C>G (p.Arg49Gly)
c.190C>G (p.Arg64Gly)
c.187C>G (p.Arg63Gly)
c.59-6255C>G (n.59-6255C>G)
n.405C>G
c.73C>G (p.Arg25Gly)
n.452C>G
dbSNP gnomAD v2 gnomAD v4
21g.34886968G=CA2387297180RUNX1c.226C= (p.Arg76=)
c.145C= (p.Arg49=)
c.190C= (p.Arg64=)
c.187C= (p.Arg63=)
c.59-6255C= (n.59-6255C=)
n.405C=
c.73C= (p.Arg25=)
n.452C=
21g.34886968G>TCA410203856RUNX1c.226C>A (p.Arg76Ser)
c.145C>A (p.Arg49Ser)
c.190C>A (p.Arg64Ser)
c.187C>A (p.Arg63Ser)
c.59-6255C>A (n.59-6255C>A)
n.405C>A
c.73C>A (p.Arg25Ser)
n.452C>A
dbSNP
21g.34886969G>ACA10014567RUNX1c.225C>T (p.Asp75=)
c.144C>T (p.Asp48=)
c.189C>T (p.Asp63=)
c.186C>T (p.Asp62=)
c.59-6256C>T (n.59-6256C>T)
n.404C>T
c.72C>T (p.Asp24=)
n.451C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.34886969G>CCA410203857RUNX1c.225C>G (p.Asp75Glu)
c.144C>G (p.Asp48Glu)
c.189C>G (p.Asp63Glu)
c.186C>G (p.Asp62Glu)
c.59-6256C>G (n.59-6256C>G)
n.404C>G
c.72C>G (p.Asp24Glu)
n.451C>G
dbSNP
21g.34886969G=CA2387297181RUNX1c.225C= (p.Asp75=)
c.144C= (p.Asp48=)
c.189C= (p.Asp63=)
c.186C= (p.Asp62=)
c.59-6256C= (n.59-6256C=)
n.404C=
c.72C= (p.Asp24=)
n.451C=
21g.34886969G>TCA410203858RUNX1c.225C>A (p.Asp75Glu)
c.144C>A (p.Asp48Glu)
c.189C>A (p.Asp63Glu)
c.186C>A (p.Asp62Glu)
c.59-6256C>A (n.59-6256C>A)
n.404C>A
c.72C>A (p.Asp24Glu)
n.451C>A
dbSNP
21g.34886970T>ACA410203859RUNX1c.224A>T (p.Asp75Val)
c.143A>T (p.Asp48Val)
c.188A>T (p.Asp63Val)
c.185A>T (p.Asp62Val)
c.59-6257A>T (n.59-6257A>T)
n.403A>T
c.71A>T (p.Asp24Val)
n.450A>T
dbSNP
21g.34886970T>CCA410203860RUNX1c.224A>G (p.Asp75Gly)
c.143A>G (p.Asp48Gly)
c.188A>G (p.Asp63Gly)
c.185A>G (p.Asp62Gly)
c.59-6257A>G (n.59-6257A>G)
n.403A>G
c.71A>G (p.Asp24Gly)
n.450A>G
21g.34886970T>GCA410203861RUNX1c.224A>C (p.Asp75Ala)
c.143A>C (p.Asp48Ala)
c.188A>C (p.Asp63Ala)
c.185A>C (p.Asp62Ala)
c.59-6257A>C (n.59-6257A>C)
n.403A>C
c.71A>C (p.Asp24Ala)
n.450A>C
dbSNP
21g.34886970_34887023delinsTCGCCGCTCCTCAGCTTGCCGGCCAGGGCAGCGCCGGCGTCCGGGGCGCCCAGCCA2387297182RUNX1c.171_224delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA (p.Pro57=)
c.90_143delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA (p.Pro30=)
c.135_188delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA (p.Pro45=)
c.132_185delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA (p.Pro44=)
c.59-6310_59-6257delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA (n.59-6310_59-6257delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA)
n.350_403delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA
c.18_71delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA (p.Pro6=)
n.397_450delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA
21g.34886971C>ACA410203862RUNX1c.223G>T (p.Asp75Tyr)
c.142G>T (p.Asp48Tyr)
c.187G>T (p.Asp63Tyr)
c.184G>T (p.Asp62Tyr)
c.59-6258G>T (n.59-6258G>T)
n.402G>T
c.70G>T (p.Asp24Tyr)
n.449G>T
ClinVar dbSNP COSMIC
21g.34886971C=CA2387297183RUNX1c.223G= (p.Asp75=)
c.142G= (p.Asp48=)
c.187G= (p.Asp63=)
c.184G= (p.Asp62=)
c.59-6258G= (n.59-6258G=)
n.402G=
c.70G= (p.Asp24=)
n.449G=
21g.34886971C>GCA410203863RUNX1c.223G>C (p.Asp75His)
c.142G>C (p.Asp48His)
c.187G>C (p.Asp63His)
c.184G>C (p.Asp62His)
c.59-6258G>C (n.59-6258G>C)
n.402G>C
c.70G>C (p.Asp24His)
n.449G>C
21g.34886971C>TCA410203864RUNX1c.223G>A (p.Asp75Asn)
c.142G>A (p.Asp48Asn)
c.187G>A (p.Asp63Asn)
c.184G>A (p.Asp62Asn)
c.59-6258G>A (n.59-6258G>A)
n.402G>A
c.70G>A (p.Asp24Asn)
n.449G>A
dbSNP
21g.34886971_34886999delCA645607457RUNX1c.195_223del (p.Ala66ProfsTer?)
c.114_142del (p.Ala39ProfsTer?)
c.159_187del (p.Ala54ProfsTer?)
c.156_184del (p.Ala53ProfsTer?)
c.59-6286_59-6258del (n.59-6286_59-6258del)
n.374_402del
c.42_70del (p.Ala15ProfsTer?)
n.421_449del
COSMIC
21g.34886971_34887023delCA658824423RUNX1c.171_223del (p.Leu58ProfsTer?)
c.90_142del (p.Leu31ProfsTer?)
c.135_187del (p.Leu46ProfsTer?)
c.132_184del (p.Leu45ProfsTer?)
c.59-6310_59-6258del (n.59-6310_59-6258del)
n.350_402del
c.18_70del (p.Leu7ProfsTer?)
n.397_449del
ClinVar dbSNP
21g.34886972G>ACA512318907RUNX1c.222C>T (p.Gly74=)
c.141C>T (p.Gly47=)
c.186C>T (p.Gly62=)
c.183C>T (p.Gly61=)
c.59-6259C>T (n.59-6259C>T)
n.401C>T
c.69C>T (p.Gly23=)
n.448C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.34886972G>CCA512318909RUNX1c.222C>G (p.Gly74=)
c.141C>G (p.Gly47=)
c.186C>G (p.Gly62=)
c.183C>G (p.Gly61=)
c.59-6259C>G (n.59-6259C>G)
n.401C>G
c.69C>G (p.Gly23=)
n.448C>G
dbSNP
21g.34886972G=CA2387297184RUNX1c.222C= (p.Gly74=)
c.141C= (p.Gly47=)
c.186C= (p.Gly62=)
c.183C= (p.Gly61=)
c.59-6259C= (n.59-6259C=)
n.401C=
c.69C= (p.Gly23=)
n.448C=
21g.34886972G>TCA512318908RUNX1c.222C>A (p.Gly74=)
c.141C>A (p.Gly47=)
c.186C>A (p.Gly62=)
c.183C>A (p.Gly61=)
c.59-6259C>A (n.59-6259C>A)
n.401C>A
c.69C>A (p.Gly23=)
n.448C>A
21g.34886973C>ACA410203867RUNX1c.221G>T (p.Gly74Val)
c.140G>T (p.Gly47Val)
c.185G>T (p.Gly62Val)
c.182G>T (p.Gly61Val)
c.59-6260G>T (n.59-6260G>T)
n.400G>T
c.68G>T (p.Gly23Val)
n.447G>T
ClinVar
21g.34886973C>GCA410203866RUNX1c.221G>C (p.Gly74Ala)
c.140G>C (p.Gly47Ala)
c.185G>C (p.Gly62Ala)
c.182G>C (p.Gly61Ala)
c.59-6260G>C (n.59-6260G>C)
n.400G>C
c.68G>C (p.Gly23Ala)
n.447G>C
dbSNP
21g.34886973C>TCA410203865RUNX1c.221G>A (p.Gly74Asp)
c.140G>A (p.Gly47Asp)
c.185G>A (p.Gly62Asp)
c.182G>A (p.Gly61Asp)
c.59-6260G>A (n.59-6260G>A)
n.400G>A
c.68G>A (p.Gly23Asp)
n.447G>A
dbSNP
21g.34886974C>ACA410203868RUNX1c.220G>T (p.Gly74Cys)
c.139G>T (p.Gly47Cys)
c.184G>T (p.Gly62Cys)
c.181G>T (p.Gly61Cys)
c.59-6261G>T (n.59-6261G>T)
n.399G>T
c.67G>T (p.Gly23Cys)
n.446G>T
21g.34886974C=CA2387297185RUNX1c.220G= (p.Gly74=)
c.139G= (p.Gly47=)
c.184G= (p.Gly62=)
c.181G= (p.Gly61=)
c.59-6261G= (n.59-6261G=)
n.399G=
c.67G= (p.Gly23=)
n.446G=
21g.34886974C>GCA410203869RUNX1c.220G>C (p.Gly74Arg)
c.139G>C (p.Gly47Arg)
c.184G>C (p.Gly62Arg)
c.181G>C (p.Gly61Arg)
c.59-6261G>C (n.59-6261G>C)
n.399G>C
c.67G>C (p.Gly23Arg)
n.446G>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.34886974C>TCA410203870RUNX1c.220G>A (p.Gly74Ser)
c.139G>A (p.Gly47Ser)
c.184G>A (p.Gly62Ser)
c.181G>A (p.Gly61Ser)
c.59-6261G>A (n.59-6261G>A)
n.399G>A
c.67G>A (p.Gly23Ser)
n.446G>A
21g.34886975G>ACA512318910RUNX1c.219C>T (p.Ser73=)
c.138C>T (p.Ser46=)
c.183C>T (p.Ser61=)
c.180C>T (p.Ser60=)
c.59-6262C>T (n.59-6262C>T)
n.398C>T
c.66C>T (p.Ser22=)
n.445C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
21g.34886975G>CCA410203871RUNX1c.219C>G (p.Ser73Arg)
c.138C>G (p.Ser46Arg)
c.183C>G (p.Ser61Arg)
c.180C>G (p.Ser60Arg)
c.59-6262C>G (n.59-6262C>G)
n.398C>G
c.66C>G (p.Ser22Arg)
n.445C>G
ClinVar dbSNP gnomAD v4
21g.34886975G=CA2387297186RUNX1c.219C= (p.Ser73=)
c.138C= (p.Ser46=)
c.183C= (p.Ser61=)
c.180C= (p.Ser60=)
c.59-6262C= (n.59-6262C=)
n.398C=
c.66C= (p.Ser22=)
n.445C=
21g.34886975G>TCA410203872RUNX1c.219C>A (p.Ser73Arg)
c.138C>A (p.Ser46Arg)
c.183C>A (p.Ser61Arg)
c.180C>A (p.Ser60Arg)
c.59-6262C>A (n.59-6262C>A)
n.398C>A
c.66C>A (p.Ser22Arg)
n.445C>A
gnomAD v4
21g.34886976C>ACA410203873RUNX1c.218G>T (p.Ser73Ile)
c.137G>T (p.Ser46Ile)
c.182G>T (p.Ser61Ile)
c.179G>T (p.Ser60Ile)
c.59-6263G>T (n.59-6263G>T)
n.397G>T
c.65G>T (p.Ser22Ile)
n.444G>T
dbSNP
21g.34886976C>GCA410203874RUNX1c.218G>C (p.Ser73Thr)
c.137G>C (p.Ser46Thr)
c.182G>C (p.Ser61Thr)
c.179G>C (p.Ser60Thr)
c.59-6263G>C (n.59-6263G>C)
n.397G>C
c.65G>C (p.Ser22Thr)
n.444G>C
21g.34886976C>TCA410203875RUNX1c.218G>A (p.Ser73Asn)
c.137G>A (p.Ser46Asn)
c.182G>A (p.Ser61Asn)
c.179G>A (p.Ser60Asn)
c.59-6263G>A (n.59-6263G>A)
n.397G>A
c.65G>A (p.Ser22Asn)
n.444G>A
21g.34886977T>ACA410203876RUNX1c.217A>T (p.Ser73Cys)
c.136A>T (p.Ser46Cys)
c.181A>T (p.Ser61Cys)
c.178A>T (p.Ser60Cys)
c.59-6264A>T (n.59-6264A>T)
n.396A>T
c.64A>T (p.Ser22Cys)
n.443A>T
dbSNP
21g.34886977T>CCA410203877RUNX1c.217A>G (p.Ser73Gly)
c.136A>G (p.Ser46Gly)
c.181A>G (p.Ser61Gly)
c.178A>G (p.Ser60Gly)
c.59-6264A>G (n.59-6264A>G)
n.396A>G
c.64A>G (p.Ser22Gly)
n.443A>G
ClinVar dbSNP gnomAD v4
21g.34886977T>GCA410203878RUNX1c.217A>C (p.Ser73Arg)
c.136A>C (p.Ser46Arg)
c.181A>C (p.Ser61Arg)
c.178A>C (p.Ser60Arg)
c.59-6264A>C (n.59-6264A>C)
n.396A>C
c.64A>C (p.Ser22Arg)
n.443A>C
21g.34886977T=CA2387297187RUNX1c.217A= (p.Ser73=)
c.136A= (p.Ser46=)
c.181A= (p.Ser61=)
c.178A= (p.Ser60=)
c.59-6264A= (n.59-6264A=)
n.396A=
c.64A= (p.Ser22=)
n.443A=
21g.34886978C>ACA410203879RUNX1c.216G>T (p.Arg72Ser)
c.135G>T (p.Arg45Ser)
c.180G>T (p.Arg60Ser)
c.177G>T (p.Arg59Ser)
c.59-6265G>T (n.59-6265G>T)
n.395G>T
c.63G>T (p.Arg21Ser)
n.442G>T
21g.34886978C>GCA410203880RUNX1c.216G>C (p.Arg72Ser)
c.135G>C (p.Arg45Ser)
c.180G>C (p.Arg60Ser)
c.177G>C (p.Arg59Ser)
c.59-6265G>C (n.59-6265G>C)
n.395G>C
c.63G>C (p.Arg21Ser)
n.442G>C
21g.34886978C>TCA512318911RUNX1c.216G>A (p.Arg72=)
c.135G>A (p.Arg45=)
c.180G>A (p.Arg60=)
c.177G>A (p.Arg59=)
c.59-6265G>A (n.59-6265G>A)
n.395G>A
c.63G>A (p.Arg21=)
n.442G>A
ClinVar gnomAD v4
21g.34886978_34886979dupCA658656806RUNX1c.215_216dup (p.Ser73GlyfsTer?)
c.134_135dup (p.Ser46GlyfsTer?)
c.179_180dup (p.Ser61GlyfsTer?)
c.176_177dup (p.Ser60GlyfsTer?)
c.59-6266_59-6265dup (n.59-6266_59-6265dup)
n.394_395dup
c.62_63dup (p.Ser22GlyfsTer?)
n.441_442dup
ClinVar dbSNP
21g.34886979C>ACA410203882RUNX1c.215G>T (p.Arg72Met)
c.134G>T (p.Arg45Met)
c.179G>T (p.Arg60Met)
c.176G>T (p.Arg59Met)
c.59-6266G>T (n.59-6266G>T)
n.394G>T
c.62G>T (p.Arg21Met)
n.441G>T
dbSNP
21g.34886979C>GCA410203883RUNX1c.215G>C (p.Arg72Thr)
c.134G>C (p.Arg45Thr)
c.179G>C (p.Arg60Thr)
c.176G>C (p.Arg59Thr)
c.59-6266G>C (n.59-6266G>C)
n.394G>C
c.62G>C (p.Arg21Thr)
n.441G>C
21g.34886979C>TCA410203881RUNX1c.215G>A (p.Arg72Lys)
c.134G>A (p.Arg45Lys)
c.179G>A (p.Arg60Lys)
c.176G>A (p.Arg59Lys)
c.59-6266G>A (n.59-6266G>A)
n.394G>A
c.62G>A (p.Arg21Lys)
n.441G>A
dbSNP
21g.34886980T>ACA410203884RUNX1c.214A>T (p.Arg72Trp)
c.133A>T (p.Arg45Trp)
c.178A>T (p.Arg60Trp)
c.175A>T (p.Arg59Trp)
c.59-6267A>T (n.59-6267A>T)
n.393A>T
c.61A>T (p.Arg21Trp)
n.440A>T
dbSNP
21g.34886980T>CCA410203885RUNX1c.214A>G (p.Arg72Gly)
c.133A>G (p.Arg45Gly)
c.178A>G (p.Arg60Gly)
c.175A>G (p.Arg59Gly)
c.59-6267A>G (n.59-6267A>G)
n.393A>G
c.61A>G (p.Arg21Gly)
n.440A>G
dbSNP
21g.34886980T>GCA512318912RUNX1c.214A>C (p.Arg72=)
c.133A>C (p.Arg45=)
c.178A>C (p.Arg60=)
c.175A>C (p.Arg59=)
c.59-6267A>C (n.59-6267A>C)
n.393A>C
c.61A>C (p.Arg21=)
n.440A>C
21g.34886981C>ACA512318913RUNX1c.213G>T (p.Leu71=)
c.132G>T (p.Leu44=)
c.177G>T (p.Leu59=)
c.174G>T (p.Leu58=)
c.59-6268G>T (n.59-6268G>T)
n.392G>T
c.60G>T (p.Leu20=)
n.439G>T
dbSNP
21g.34886981C>GCA512318915RUNX1c.213G>C (p.Leu71=)
c.132G>C (p.Leu44=)
c.177G>C (p.Leu59=)
c.174G>C (p.Leu58=)
c.59-6268G>C (n.59-6268G>C)
n.392G>C
c.60G>C (p.Leu20=)
n.439G>C
dbSNP
21g.34886981C>TCA512318914RUNX1c.213G>A (p.Leu71=)
c.132G>A (p.Leu44=)
c.177G>A (p.Leu59=)
c.174G>A (p.Leu58=)
c.59-6268G>A (n.59-6268G>A)
n.392G>A
c.60G>A (p.Leu20=)
n.439G>A
ClinVar dbSNP
21g.34886982A>CCA410203886RUNX1c.212T>G (p.Leu71Arg)
c.131T>G (p.Leu44Arg)
c.176T>G (p.Leu59Arg)
c.173T>G (p.Leu58Arg)
c.59-6269T>G (n.59-6269T>G)
n.391T>G
c.59T>G (p.Leu20Arg)
n.438T>G
21g.34886982A>GCA410203887RUNX1c.212T>C (p.Leu71Pro)
c.131T>C (p.Leu44Pro)
c.176T>C (p.Leu59Pro)
c.173T>C (p.Leu58Pro)
c.59-6269T>C (n.59-6269T>C)
n.391T>C
c.59T>C (p.Leu20Pro)
n.438T>C
dbSNP
21g.34886982A>TCA410203888RUNX1c.212T>A (p.Leu71Gln)
c.131T>A (p.Leu44Gln)
c.176T>A (p.Leu59Gln)
c.173T>A (p.Leu58Gln)
c.59-6269T>A (n.59-6269T>A)
n.391T>A
c.59T>A (p.Leu20Gln)
n.438T>A
21g.34886983G>ACA512318916RUNX1c.211C>T (p.Leu71=)
c.130C>T (p.Leu44=)
c.175C>T (p.Leu59=)
c.172C>T (p.Leu58=)
c.59-6270C>T (n.59-6270C>T)
n.390C>T
c.58C>T (p.Leu20=)
n.437C>T
dbSNP gnomAD v4
21g.34886983G>CCA410203889RUNX1c.211C>G (p.Leu71Val)
c.130C>G (p.Leu44Val)
c.175C>G (p.Leu59Val)
c.172C>G (p.Leu58Val)
c.59-6270C>G (n.59-6270C>G)
n.390C>G
c.58C>G (p.Leu20Val)
n.437C>G
ClinVar dbSNP
21g.34886983G>TCA410203890RUNX1c.211C>A (p.Leu71Met)
c.130C>A (p.Leu44Met)
c.175C>A (p.Leu59Met)
c.172C>A (p.Leu58Met)
c.59-6270C>A (n.59-6270C>A)
n.390C>A
c.58C>A (p.Leu20Met)
n.437C>A
COSMIC COSMIC
21g.34886984C>ACA410203891RUNX1c.210G>T (p.Lys70Asn)
c.129G>T (p.Lys43Asn)
c.174G>T (p.Lys58Asn)
c.171G>T (p.Lys57Asn)
c.59-6271G>T (n.59-6271G>T)
n.389G>T
c.57G>T (p.Lys19Asn)
n.436G>T
dbSNP
21g.34886984C>GCA410203892RUNX1c.210G>C (p.Lys70Asn)
c.129G>C (p.Lys43Asn)
c.174G>C (p.Lys58Asn)
c.171G>C (p.Lys57Asn)
c.59-6271G>C (n.59-6271G>C)
n.389G>C
c.57G>C (p.Lys19Asn)
n.436G>C
dbSNP
21g.34886984C>TCA512318917RUNX1c.210G>A (p.Lys70=)
c.129G>A (p.Lys43=)
c.174G>A (p.Lys58=)
c.171G>A (p.Lys57=)
c.59-6271G>A (n.59-6271G>A)
n.389G>A
c.57G>A (p.Lys19=)
n.436G>A
ClinVar dbSNP
21g.34886985T>ACA410203893RUNX1c.209A>T (p.Lys70Met)
c.128A>T (p.Lys43Met)
c.173A>T (p.Lys58Met)
c.170A>T (p.Lys57Met)
c.59-6272A>T (n.59-6272A>T)
n.388A>T
c.56A>T (p.Lys19Met)
n.435A>T
dbSNP gnomAD v4
21g.34886985T>CCA410203895RUNX1c.209A>G (p.Lys70Arg)
c.128A>G (p.Lys43Arg)
c.173A>G (p.Lys58Arg)
c.170A>G (p.Lys57Arg)
c.59-6272A>G (n.59-6272A>G)
n.388A>G
c.56A>G (p.Lys19Arg)
n.435A>G
ClinVar dbSNP gnomAD v2 gnomAD v4
21g.34886985T>GCA410203897RUNX1c.209A>C (p.Lys70Thr)
c.128A>C (p.Lys43Thr)
c.173A>C (p.Lys58Thr)
c.170A>C (p.Lys57Thr)
c.59-6272A>C (n.59-6272A>C)
n.388A>C
c.56A>C (p.Lys19Thr)
n.435A>C
ClinVar dbSNP
21g.34886985T=CA2387297188RUNX1c.209A= (p.Lys70=)
c.128A= (p.Lys43=)
c.173A= (p.Lys58=)
c.170A= (p.Lys57=)
c.59-6272A= (n.59-6272A=)
n.388A=
c.56A= (p.Lys19=)
n.435A=
21g.34886986T>ACA410203903RUNX1c.208A>T (p.Lys70Ter)
c.127A>T (p.Lys43Ter)
c.172A>T (p.Lys58Ter)
c.169A>T (p.Lys57Ter)
c.59-6273A>T (n.59-6273A>T)
n.387A>T
c.55A>T (p.Lys19Ter)
n.434A>T
dbSNP
21g.34886986T>CCA410203899RUNX1c.208A>G (p.Lys70Glu)
c.127A>G (p.Lys43Glu)
c.172A>G (p.Lys58Glu)
c.169A>G (p.Lys57Glu)
c.59-6273A>G (n.59-6273A>G)
n.387A>G
c.55A>G (p.Lys19Glu)
n.434A>G
21g.34886986T>GCA410203901RUNX1c.208A>C (p.Lys70Gln)
c.127A>C (p.Lys43Gln)
c.172A>C (p.Lys58Gln)
c.169A>C (p.Lys57Gln)
c.59-6273A>C (n.59-6273A>C)
n.387A>C
c.55A>C (p.Lys19Gln)
n.434A>C
gnomAD v4
21g.34886987G>ACA512318918RUNX1c.207C>T (p.Gly69=)
c.126C>T (p.Gly42=)
c.171C>T (p.Gly57=)
c.168C>T (p.Gly56=)
c.59-6274C>T (n.59-6274C>T)
n.386C>T
c.54C>T (p.Gly18=)
n.433C>T
dbSNP
21g.34886987G>CCA512318920RUNX1c.207C>G (p.Gly69=)
c.126C>G (p.Gly42=)
c.171C>G (p.Gly57=)
c.168C>G (p.Gly56=)
c.59-6274C>G (n.59-6274C>G)
n.386C>G
c.54C>G (p.Gly18=)
n.433C>G
21g.34886987G>TCA512318919RUNX1c.207C>A (p.Gly69=)
c.126C>A (p.Gly42=)
c.171C>A (p.Gly57=)
c.168C>A (p.Gly56=)
c.59-6274C>A (n.59-6274C>A)
n.386C>A
c.54C>A (p.Gly18=)
n.433C>A
21g.34886988C>ACA10014568RUNX1c.206G>T (p.Gly69Val)
c.125G>T (p.Gly42Val)
c.170G>T (p.Gly57Val)
c.167G>T (p.Gly56Val)
c.59-6275G>T (n.59-6275G>T)
n.385G>T
c.53G>T (p.Gly18Val)
n.432G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.34886988C=CA2387297189RUNX1c.206G= (p.Gly69=)
c.125G= (p.Gly42=)
c.170G= (p.Gly57=)
c.167G= (p.Gly56=)
c.59-6275G= (n.59-6275G=)
n.385G=
c.53G= (p.Gly18=)
n.432G=
21g.34886988C>GCA410203905RUNX1c.206G>C (p.Gly69Ala)
c.125G>C (p.Gly42Ala)
c.170G>C (p.Gly57Ala)
c.167G>C (p.Gly56Ala)
c.59-6275G>C (n.59-6275G>C)
n.385G>C
c.53G>C (p.Gly18Ala)
n.432G>C
dbSNP
21g.34886988C>TCA410203907RUNX1c.206G>A (p.Gly69Asp)
c.125G>A (p.Gly42Asp)
c.170G>A (p.Gly57Asp)
c.167G>A (p.Gly56Asp)
c.59-6275G>A (n.59-6275G>A)
n.385G>A
c.53G>A (p.Gly18Asp)
n.432G>A
ClinVar dbSNP gnomAD v4
21g.34886989C>ACA410203909RUNX1c.205G>T (p.Gly69Cys)
c.124G>T (p.Gly42Cys)
c.169G>T (p.Gly57Cys)
c.166G>T (p.Gly56Cys)
c.59-6276G>T (n.59-6276G>T)
n.384G>T
c.52G>T (p.Gly18Cys)
n.431G>T
dbSNP
21g.34886989C=CA2387297190RUNX1c.205G= (p.Gly69=)
c.124G= (p.Gly42=)
c.169G= (p.Gly57=)
c.166G= (p.Gly56=)
c.59-6276G= (n.59-6276G=)
n.384G=
c.52G= (p.Gly18=)
n.431G=
21g.34886989C>GCA10014569RUNX1c.205G>C (p.Gly69Arg)
c.124G>C (p.Gly42Arg)
c.169G>C (p.Gly57Arg)
c.166G>C (p.Gly56Arg)
c.59-6276G>C (n.59-6276G>C)
n.384G>C
c.52G>C (p.Gly18Arg)
n.431G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.34886989C>TCA320642805RUNX1c.205G>A (p.Gly69Ser)
c.124G>A (p.Gly42Ser)
c.169G>A (p.Gly57Ser)
c.166G>A (p.Gly56Ser)
c.59-6276G>A (n.59-6276G>A)
n.384G>A
c.52G>A (p.Gly18Ser)
n.431G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
21g.34886990G>ACA320642815RUNX1c.204C>T (p.Ala68=)
c.123C>T (p.Ala41=)
c.168C>T (p.Ala56=)
c.165C>T (p.Ala55=)
c.59-6277C>T (n.59-6277C>T)
n.383C>T
c.51C>T (p.Ala17=)
n.430C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.34886990G>CCA10014570RUNX1c.204C>G (p.Ala68=)
c.123C>G (p.Ala41=)
c.168C>G (p.Ala56=)
c.165C>G (p.Ala55=)
c.59-6277C>G (n.59-6277C>G)
n.383C>G
c.51C>G (p.Ala17=)
n.430C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.34886990G=CA2387297191RUNX1c.204C= (p.Ala68=)
c.123C= (p.Ala41=)
c.168C= (p.Ala56=)
c.165C= (p.Ala55=)
c.59-6277C= (n.59-6277C=)
n.383C=
c.51C= (p.Ala17=)
n.430C=
21g.34886990G>TCA512318921RUNX1c.204C>A (p.Ala68=)
c.123C>A (p.Ala41=)
c.168C>A (p.Ala56=)
c.165C>A (p.Ala55=)
c.59-6277C>A (n.59-6277C>A)
n.383C>A
c.51C>A (p.Ala17=)
n.430C>A
gnomAD v4
21g.34886991G>ACA320642839RUNX1c.203C>T (p.Ala68Val)
c.122C>T (p.Ala41Val)
c.167C>T (p.Ala56Val)
c.164C>T (p.Ala55Val)
c.59-6278C>T (n.59-6278C>T)
n.382C>T
c.50C>T (p.Ala17Val)
n.429C>T
dbSNP
21g.34886991G>CCA410203914RUNX1c.203C>G (p.Ala68Gly)
c.122C>G (p.Ala41Gly)
c.167C>G (p.Ala56Gly)
c.164C>G (p.Ala55Gly)
c.59-6278C>G (n.59-6278C>G)
n.382C>G
c.50C>G (p.Ala17Gly)
n.429C>G
21g.34886991G=CA2387297192RUNX1c.203C= (p.Ala68=)
c.122C= (p.Ala41=)
c.167C= (p.Ala56=)
c.164C= (p.Ala55=)
c.59-6278C= (n.59-6278C=)
n.382C=
c.50C= (p.Ala17=)
n.429C=
21g.34886991G>TCA410203916RUNX1c.203C>A (p.Ala68Asp)
c.122C>A (p.Ala41Asp)
c.167C>A (p.Ala56Asp)
c.164C>A (p.Ala55Asp)
c.59-6278C>A (n.59-6278C>A)
n.382C>A
c.50C>A (p.Ala17Asp)
n.429C>A
gnomAD v4
21g.34886992C>ACA410203921RUNX1c.202G>T (p.Ala68Ser)
c.121G>T (p.Ala41Ser)
c.166G>T (p.Ala56Ser)
c.163G>T (p.Ala55Ser)
c.59-6279G>T (n.59-6279G>T)
n.381G>T
c.49G>T (p.Ala17Ser)
n.428G>T
dbSNP
21g.34886992C>GCA410203918RUNX1c.202G>C (p.Ala68Pro)
c.121G>C (p.Ala41Pro)
c.166G>C (p.Ala56Pro)
c.163G>C (p.Ala55Pro)
c.59-6279G>C (n.59-6279G>C)
n.381G>C
c.49G>C (p.Ala17Pro)
n.428G>C
dbSNP gnomAD v4
21g.34886992C>TCA410203917RUNX1c.202G>A (p.Ala68Thr)
c.121G>A (p.Ala41Thr)
c.166G>A (p.Ala56Thr)
c.163G>A (p.Ala55Thr)
c.59-6279G>A (n.59-6279G>A)
n.381G>A
c.49G>A (p.Ala17Thr)
n.428G>A
dbSNP
21g.34886993C>ACA512318923RUNX1c.201G>T (p.Leu67=)
c.120G>T (p.Leu40=)
c.165G>T (p.Leu55=)
c.162G>T (p.Leu54=)
c.59-6280G>T (n.59-6280G>T)
n.380G>T
c.48G>T (p.Leu16=)
n.427G>T
dbSNP
21g.34886993C>GCA512318922RUNX1c.201G>C (p.Leu67=)
c.120G>C (p.Leu40=)
c.165G>C (p.Leu55=)
c.162G>C (p.Leu54=)
c.59-6280G>C (n.59-6280G>C)
n.380G>C
c.48G>C (p.Leu16=)
n.427G>C
21g.34886993C>TCA512318924RUNX1c.201G>A (p.Leu67=)
c.120G>A (p.Leu40=)
c.165G>A (p.Leu55=)
c.162G>A (p.Leu54=)
c.59-6280G>A (n.59-6280G>A)
n.380G>A
c.48G>A (p.Leu16=)
n.427G>A
dbSNP
21g.34886994A=CA2387297193RUNX1c.200T= (p.Leu67=)
c.119T= (p.Leu40=)
c.164T= (p.Leu55=)
c.161T= (p.Leu54=)
c.59-6281T= (n.59-6281T=)
n.379T=
c.47T= (p.Leu16=)
n.426T=
21g.34886994A>CCA410203923RUNX1c.200T>G (p.Leu67Arg)
c.119T>G (p.Leu40Arg)
c.164T>G (p.Leu55Arg)
c.161T>G (p.Leu54Arg)
c.59-6281T>G (n.59-6281T>G)
n.379T>G
c.47T>G (p.Leu16Arg)
n.426T>G
dbSNP gnomAD v2 gnomAD v4
21g.34886994A>GCA410203927RUNX1c.200T>C (p.Leu67Pro)
c.119T>C (p.Leu40Pro)
c.164T>C (p.Leu55Pro)
c.161T>C (p.Leu54Pro)
c.59-6281T>C (n.59-6281T>C)
n.379T>C
c.47T>C (p.Leu16Pro)
n.426T>C
dbSNP
21g.34886994A>TCA410203925RUNX1c.200T>A (p.Leu67Gln)
c.119T>A (p.Leu40Gln)
c.164T>A (p.Leu55Gln)
c.161T>A (p.Leu54Gln)
c.59-6281T>A (n.59-6281T>A)
n.379T>A
c.47T>A (p.Leu16Gln)
n.426T>A
21g.34886995G>ACA512318925RUNX1c.199C>T (p.Leu67=)
c.118C>T (p.Leu40=)
c.163C>T (p.Leu55=)
c.160C>T (p.Leu54=)
c.59-6282C>T (n.59-6282C>T)
n.378C>T
c.46C>T (p.Leu16=)
n.425C>T
dbSNP
21g.34886995G>CCA410203929RUNX1c.199C>G (p.Leu67Val)
c.118C>G (p.Leu40Val)
c.163C>G (p.Leu55Val)
c.160C>G (p.Leu54Val)
c.59-6282C>G (n.59-6282C>G)
n.378C>G
c.46C>G (p.Leu16Val)
n.425C>G
21g.34886995G>TCA410203931RUNX1c.199C>A (p.Leu67Met)
c.118C>A (p.Leu40Met)
c.163C>A (p.Leu55Met)
c.160C>A (p.Leu54Met)
c.59-6282C>A (n.59-6282C>A)
n.378C>A
c.46C>A (p.Leu16Met)
n.425C>A
dbSNP
21g.34886996G>ACA512318927RUNX1c.198C>T (p.Ala66=)
c.117C>T (p.Ala39=)
c.162C>T (p.Ala54=)
c.159C>T (p.Ala53=)
c.59-6283C>T (n.59-6283C>T)
n.377C>T
c.45C>T (p.Ala15=)
n.424C>T
dbSNP
21g.34886996G>CCA10014571RUNX1c.198C>G (p.Ala66=)
c.117C>G (p.Ala39=)
c.162C>G (p.Ala54=)
c.159C>G (p.Ala53=)
c.59-6283C>G (n.59-6283C>G)
n.377C>G
c.45C>G (p.Ala15=)
n.424C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.34886996G=CA2387297194RUNX1c.198C= (p.Ala66=)
c.117C= (p.Ala39=)
c.162C= (p.Ala54=)
c.159C= (p.Ala53=)
c.59-6283C= (n.59-6283C=)
n.377C=
c.45C= (p.Ala15=)
n.424C=
21g.34886996G>TCA512318926RUNX1c.198C>A (p.Ala66=)
c.117C>A (p.Ala39=)
c.162C>A (p.Ala54=)
c.159C>A (p.Ala53=)
c.59-6283C>A (n.59-6283C>A)
n.377C>A
c.45C>A (p.Ala15=)
n.424C>A
21g.34887000_34887027dupCA913189258RUNX1c.171_198dup (p.Leu67AlafsTer?)
c.90_117dup (p.Leu40AlafsTer?)
c.135_162dup (p.Leu55AlafsTer?)
c.132_159dup (p.Leu54AlafsTer?)
c.59-6310_59-6283dup (n.59-6310_59-6283dup)
n.350_377dup
c.18_45dup (p.Leu16AlafsTer?)
n.397_424dup
21g.34887000_34887027delCA2577483766RUNX1c.171_198del (p.Leu58TrpfsTer5)
c.90_117del (p.Leu31TrpfsTer5)
c.135_162del (p.Leu46TrpfsTer5)
c.132_159del (p.Leu45TrpfsTer5)
c.59-6310_59-6283del (n.59-6310_59-6283del)
n.350_377del
c.18_45del (p.Leu7TrpfsTer5)
n.397_424del
21g.34886997G>ACA410203934RUNX1c.197C>T (p.Ala66Val)
c.116C>T (p.Ala39Val)
c.161C>T (p.Ala54Val)
c.158C>T (p.Ala53Val)
c.59-6284C>T (n.59-6284C>T)
n.376C>T
c.44C>T (p.Ala15Val)
n.423C>T
dbSNP
21g.34886997G>CCA410203936RUNX1c.197C>G (p.Ala66Gly)
c.116C>G (p.Ala39Gly)
c.161C>G (p.Ala54Gly)
c.158C>G (p.Ala53Gly)
c.59-6284C>G (n.59-6284C>G)
n.376C>G
c.44C>G (p.Ala15Gly)
n.423C>G
dbSNP
21g.34886997G>TCA410203938RUNX1c.197C>A (p.Ala66Asp)
c.116C>A (p.Ala39Asp)
c.161C>A (p.Ala54Asp)
c.158C>A (p.Ala53Asp)
c.59-6284C>A (n.59-6284C>A)
n.376C>A
c.44C>A (p.Ala15Asp)
n.423C>A
ClinVar gnomAD v4
21g.34886997_34887028delinsGCAGCGCCGGCGTCCGGGGCGCCCAGCGGCAACA2387297195RUNX1c.166_197delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC (p.Leu56=)
c.85_116delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC (p.Leu29=)
c.130_161delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC (p.Leu44=)
c.127_158delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC (p.Leu43=)
c.59-6315_59-6284delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC (n.59-6315_59-6284delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC)
n.345_376delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC
c.13_44delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC (p.Leu5=)
n.392_423delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC
21g.34886998C>ACA410203940RUNX1c.196G>T (p.Ala66Ser)
c.115G>T (p.Ala39Ser)
c.160G>T (p.Ala54Ser)
c.157G>T (p.Ala53Ser)
c.59-6285G>T (n.59-6285G>T)
n.375G>T
c.43G>T (p.Ala15Ser)
n.422G>T
dbSNP
21g.34886998C>GCA410203942RUNX1c.196G>C (p.Ala66Pro)
c.115G>C (p.Ala39Pro)
c.160G>C (p.Ala54Pro)
c.157G>C (p.Ala53Pro)
c.59-6285G>C (n.59-6285G>C)
n.375G>C
c.43G>C (p.Ala15Pro)
n.422G>C
21g.34886998C>TCA410203944RUNX1c.196G>A (p.Ala66Thr)
c.115G>A (p.Ala39Thr)
c.160G>A (p.Ala54Thr)
c.157G>A (p.Ala53Thr)
c.59-6285G>A (n.59-6285G>A)
n.375G>A
c.43G>A (p.Ala15Thr)
n.422G>A
ClinVar dbSNP gnomAD v4
21g.34886999_34887004delCA2573157364RUNX1c.191_196del (p.Gly64_Ala65del)
c.110_115del (p.Gly37_Ala38del)
c.155_160del (p.Gly52_Ala53del)
c.152_157del (p.Gly51_Ala52del)
c.59-6290_59-6285del (n.59-6290_59-6285del)
n.370_375del
c.38_43del (p.Gly13_Ala14del)
n.417_422del
ClinVar dbSNP
21g.34886999_34887029delCA913189256RUNX1c.166_196del (p.Leu56ProfsTer6)
c.85_115del (p.Leu29ProfsTer6)
c.130_160del (p.Leu44ProfsTer6)
c.127_157del (p.Leu43ProfsTer6)
c.59-6315_59-6285del (n.59-6315_59-6285del)
n.345_375del
c.13_43del (p.Leu5ProfsTer6)
n.392_422del
ClinVar dbSNP
21g.34886999A>CCA512318930RUNX1c.195T>G (p.Ala65=)
c.114T>G (p.Ala38=)
c.159T>G (p.Ala53=)
c.156T>G (p.Ala52=)
c.59-6286T>G (n.59-6286T>G)
n.374T>G
c.42T>G (p.Ala14=)
n.421T>G
dbSNP
21g.34886999A>GCA512318929RUNX1c.195T>C (p.Ala65=)
c.114T>C (p.Ala38=)
c.159T>C (p.Ala53=)
c.156T>C (p.Ala52=)
c.59-6286T>C (n.59-6286T>C)
n.374T>C
c.42T>C (p.Ala14=)
n.421T>C
dbSNP
21g.34886999A>TCA512318928RUNX1c.195T>A (p.Ala65=)
c.114T>A (p.Ala38=)
c.159T>A (p.Ala53=)
c.156T>A (p.Ala52=)
c.59-6286T>A (n.59-6286T>A)
n.374T>A
c.42T>A (p.Ala14=)
n.421T>A
dbSNP
21g.34887000G>ACA410203945RUNX1c.194C>T (p.Ala65Val)
c.113C>T (p.Ala38Val)
c.158C>T (p.Ala53Val)
c.155C>T (p.Ala52Val)
c.59-6287C>T (n.59-6287C>T)
n.373C>T
c.41C>T (p.Ala14Val)
n.420C>T
ClinVar dbSNP gnomAD v4
21g.34887000G>CCA410203946RUNX1c.194C>G (p.Ala65Gly)
c.113C>G (p.Ala38Gly)
c.158C>G (p.Ala53Gly)
c.155C>G (p.Ala52Gly)
c.59-6287C>G (n.59-6287C>G)
n.373C>G
c.41C>G (p.Ala14Gly)
n.420C>G
21g.34887000G=CA2387297196RUNX1c.194C= (p.Ala65=)
c.113C= (p.Ala38=)
c.158C= (p.Ala53=)
c.155C= (p.Ala52=)
c.59-6287C= (n.59-6287C=)
n.373C=
c.41C= (p.Ala14=)
n.420C=
21g.34887000G>TCA410203948RUNX1c.194C>A (p.Ala65Asp)
c.113C>A (p.Ala38Asp)
c.158C>A (p.Ala53Asp)
c.155C>A (p.Ala52Asp)
c.59-6287C>A (n.59-6287C>A)
n.373C>A
c.41C>A (p.Ala14Asp)
n.420C>A
21g.34887001_34887005delCA645607459RUNX1c.190_194del (p.Gly64CysfsTer?)
c.109_113del (p.Gly37CysfsTer?)
c.154_158del (p.Gly52CysfsTer?)
c.151_155del (p.Gly51CysfsTer?)
c.59-6291_59-6287del (n.59-6291_59-6287del)
n.369_373del
c.37_41del (p.Gly13CysfsTer?)
n.416_420del
COSMIC
21g.34887000_34887006delCA645607458RUNX1c.188_194del (p.Ala63ValfsTer7)
c.107_113del (p.Ala36ValfsTer7)
c.152_158del (p.Ala51ValfsTer7)
c.149_155del (p.Ala50ValfsTer7)
c.59-6293_59-6287del (n.59-6293_59-6287del)
n.367_373del
c.35_41del (p.Ala12ValfsTer7)
n.414_420del
COSMIC
21g.34887001C>ACA410203950RUNX1c.193G>T (p.Ala65Ser)
c.112G>T (p.Ala38Ser)
c.157G>T (p.Ala53Ser)
c.154G>T (p.Ala52Ser)
c.59-6288G>T (n.59-6288G>T)
n.372G>T
c.40G>T (p.Ala14Ser)
n.419G>T
dbSNP
21g.34887001C>GCA410203954RUNX1c.193G>C (p.Ala65Pro)
c.112G>C (p.Ala38Pro)
c.157G>C (p.Ala53Pro)
c.154G>C (p.Ala52Pro)
c.59-6288G>C (n.59-6288G>C)
n.372G>C
c.40G>C (p.Ala14Pro)
n.419G>C
ClinVar dbSNP gnomAD v4
21g.34887001C>TCA410203952RUNX1c.193G>A (p.Ala65Thr)
c.112G>A (p.Ala38Thr)
c.157G>A (p.Ala53Thr)
c.154G>A (p.Ala52Thr)
c.59-6288G>A (n.59-6288G>A)
n.372G>A
c.40G>A (p.Ala14Thr)
n.419G>A
ClinVar dbSNP gnomAD v4
21g.34887005_34887032dupCA891844470RUNX1c.166_193dup (p.Ala65ValfsTer?)
c.85_112dup (p.Ala38ValfsTer?)
c.130_157dup (p.Ala53ValfsTer?)
c.127_154dup (p.Ala52ValfsTer?)
c.59-6315_59-6288dup (n.59-6315_59-6288dup)
n.345_372dup
c.13_40dup (p.Ala14ValfsTer?)
n.392_419dup
ClinVar dbSNP
21g.34887002G>ACA512318933RUNX1c.192C>T (p.Gly64=)
c.111C>T (p.Gly37=)
c.156C>T (p.Gly52=)
c.153C>T (p.Gly51=)
c.59-6289C>T (n.59-6289C>T)
n.371C>T
c.39C>T (p.Gly13=)
n.418C>T
dbSNP gnomAD v4
21g.34887002G>CCA512318931RUNX1c.192C>G (p.Gly64=)
c.111C>G (p.Gly37=)
c.156C>G (p.Gly52=)
c.153C>G (p.Gly51=)
c.59-6289C>G (n.59-6289C>G)
n.371C>G
c.39C>G (p.Gly13=)
n.418C>G
dbSNP
21g.34887002G>TCA512318932RUNX1c.192C>A (p.Gly64=)
c.111C>A (p.Gly37=)
c.156C>A (p.Gly52=)
c.153C>A (p.Gly51=)
c.59-6289C>A (n.59-6289C>A)
n.371C>A
c.39C>A (p.Gly13=)
n.418C>A
21g.34887003C>ACA410203955RUNX1c.191G>T (p.Gly64Val)
c.110G>T (p.Gly37Val)
c.155G>T (p.Gly52Val)
c.152G>T (p.Gly51Val)
c.59-6290G>T (n.59-6290G>T)
n.370G>T
c.38G>T (p.Gly13Val)
n.417G>T
dbSNP
21g.34887003C=CA2387297197RUNX1c.191G= (p.Gly64=)
c.110G= (p.Gly37=)
c.155G= (p.Gly52=)
c.152G= (p.Gly51=)
c.59-6290G= (n.59-6290G=)
n.370G=
c.38G= (p.Gly13=)
n.417G=
21g.34887003C>GCA410203957RUNX1c.191G>C (p.Gly64Ala)
c.110G>C (p.Gly37Ala)
c.155G>C (p.Gly52Ala)
c.152G>C (p.Gly51Ala)
c.59-6290G>C (n.59-6290G>C)
n.370G>C
c.38G>C (p.Gly13Ala)
n.417G>C
gnomAD v4
21g.34887003C>TCA410203958RUNX1c.191G>A (p.Gly64Asp)
c.110G>A (p.Gly37Asp)
c.155G>A (p.Gly52Asp)
c.152G>A (p.Gly51Asp)
c.59-6290G>A (n.59-6290G>A)
n.370G>A
c.38G>A (p.Gly13Asp)
n.417G>A
dbSNP
21g.34887003_34887004insTGTGCTCA2540862196RUNX1c.190_191insAGCACA (p.Gly64delinsGluHisSer)
c.109_110insAGCACA (p.Gly37delinsGluHisSer)
c.154_155insAGCACA (p.Gly52delinsGluHisSer)
c.151_152insAGCACA (p.Gly51delinsGluHisSer)
c.59-6291_59-6290insAGCACA (n.59-6291_59-6290insAGCACA)
n.369_370insAGCACA
c.37_38insAGCACA (p.Gly13delinsGluHisSer)
n.416_417insAGCACA
21g.34887004C>ACA410203961RUNX1c.190G>T (p.Gly64Cys)
c.109G>T (p.Gly37Cys)
c.154G>T (p.Gly52Cys)
c.151G>T (p.Gly51Cys)
c.59-6291G>T (n.59-6291G>T)
n.369G>T
c.37G>T (p.Gly13Cys)
n.416G>T
21g.34887004C=CA2387297198RUNX1c.190G= (p.Gly64=)
c.109G= (p.Gly37=)
c.154G= (p.Gly52=)
c.151G= (p.Gly51=)
c.59-6291G= (n.59-6291G=)
n.369G=
c.37G= (p.Gly13=)
n.416G=
21g.34887004C>GCA410203963RUNX1c.190G>C (p.Gly64Arg)
c.109G>C (p.Gly37Arg)
c.154G>C (p.Gly52Arg)
c.151G>C (p.Gly51Arg)
c.59-6291G>C (n.59-6291G>C)
n.369G>C
c.37G>C (p.Gly13Arg)
n.416G>C
21g.34887004C>TCA320642849RUNX1c.190G>A (p.Gly64Ser)
c.109G>A (p.Gly37Ser)
c.154G>A (p.Gly52Ser)
c.151G>A (p.Gly51Ser)
c.59-6291G>A (n.59-6291G>A)
n.369G>A
c.37G>A (p.Gly13Ser)
n.416G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
21g.34887005G>ACA512318935RUNX1c.189C>T (p.Ala63=)
c.108C>T (p.Ala36=)
c.153C>T (p.Ala51=)
c.150C>T (p.Ala50=)
c.59-6292C>T (n.59-6292C>T)
n.368C>T
c.36C>T (p.Ala12=)
n.415C>T
ClinVar dbSNP gnomAD v4
21g.34887005G>CCA512318936RUNX1c.189C>G (p.Ala63=)
c.108C>G (p.Ala36=)
c.153C>G (p.Ala51=)
c.150C>G (p.Ala50=)
c.59-6292C>G (n.59-6292C>G)
n.368C>G
c.36C>G (p.Ala12=)
n.415C>G
ClinVar dbSNP gnomAD v4
21g.34887005G=CA2387297199RUNX1c.189C= (p.Ala63=)
c.108C= (p.Ala36=)
c.153C= (p.Ala51=)
c.150C= (p.Ala50=)
c.59-6292C= (n.59-6292C=)
n.368C=
c.36C= (p.Ala12=)
n.415C=
21g.34887005G>TCA512318934RUNX1c.189C>A (p.Ala63=)
c.108C>A (p.Ala36=)
c.153C>A (p.Ala51=)
c.150C>A (p.Ala50=)
c.59-6292C>A (n.59-6292C>A)
n.368C>A
c.36C>A (p.Ala12=)
n.415C>A
ClinVar dbSNP
21g.34887006dupCA2695230132RUNX1c.189dup (p.Gly64ArgfsTer?)
c.108dup (p.Gly37ArgfsTer?)
c.153dup (p.Gly52ArgfsTer?)
c.150dup (p.Gly51ArgfsTer?)
c.59-6292dup (n.59-6292dup)
n.368dup
c.36dup (p.Gly13ArgfsTer?)
n.415dup
21g.34887006G>ACA10014572RUNX1c.188C>T (p.Ala63Val)
c.107C>T (p.Ala36Val)
c.152C>T (p.Ala51Val)
c.149C>T (p.Ala50Val)
c.59-6293C>T (n.59-6293C>T)
n.367C>T
c.35C>T (p.Ala12Val)
n.414C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
21g.34887006G>CCA410203966RUNX1c.188C>G (p.Ala63Gly)
c.107C>G (p.Ala36Gly)
c.152C>G (p.Ala51Gly)
c.149C>G (p.Ala50Gly)
c.59-6293C>G (n.59-6293C>G)
n.367C>G
c.35C>G (p.Ala12Gly)
n.414C>G
dbSNP
21g.34887006G=CA2387297200RUNX1c.188C= (p.Ala63=)
c.107C= (p.Ala36=)
c.152C= (p.Ala51=)
c.149C= (p.Ala50=)
c.59-6293C= (n.59-6293C=)
n.367C=
c.35C= (p.Ala12=)
n.414C=
21g.34887006G>TCA410203968RUNX1c.188C>A (p.Ala63Asp)
c.107C>A (p.Ala36Asp)
c.152C>A (p.Ala51Asp)
c.149C>A (p.Ala50Asp)
c.59-6293C>A (n.59-6293C>A)
n.367C>A
c.35C>A (p.Ala12Asp)
n.414C>A
21g.34887007C>ACA410203972RUNX1c.187G>T (p.Ala63Ser)
c.106G>T (p.Ala36Ser)
c.151G>T (p.Ala51Ser)
c.148G>T (p.Ala50Ser)
c.59-6294G>T (n.59-6294G>T)
n.366G>T
c.34G>T (p.Ala12Ser)
n.413G>T
21g.34887007C=CA2387297201RUNX1c.187G= (p.Ala63=)
c.106G= (p.Ala36=)
c.151G= (p.Ala51=)
c.148G= (p.Ala50=)
c.59-6294G= (n.59-6294G=)
n.366G=
c.34G= (p.Ala12=)
n.413G=
21g.34887007C>GCA410203973RUNX1c.187G>C (p.Ala63Pro)
c.106G>C (p.Ala36Pro)
c.151G>C (p.Ala51Pro)
c.148G>C (p.Ala50Pro)
c.59-6294G>C (n.59-6294G>C)
n.366G>C
c.34G>C (p.Ala12Pro)
n.413G>C
21g.34887007C>TCA410203970RUNX1c.187G>A (p.Ala63Thr)
c.106G>A (p.Ala36Thr)
c.151G>A (p.Ala51Thr)
c.148G>A (p.Ala50Thr)
c.59-6294G>A (n.59-6294G>A)
n.366G>A
c.34G>A (p.Ala12Thr)
n.413G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.34887009_34887012dupCA2695201454RUNX1c.184_187dup (p.Ala63GlyfsTer?)
c.103_106dup (p.Ala36GlyfsTer?)
c.148_151dup (p.Ala51GlyfsTer?)
c.145_148dup (p.Ala50GlyfsTer?)
c.59-6297_59-6294dup (n.59-6297_59-6294dup)
n.363_366dup
c.31_34dup (p.Ala12GlyfsTer?)
n.410_413dup
ClinVar
21g.34887008G>ACA512318937RUNX1c.186C>T (p.Asp62=)
c.105C>T (p.Asp35=)
c.150C>T (p.Asp50=)
c.147C>T (p.Asp49=)
c.59-6295C>T (n.59-6295C>T)
n.365C>T
c.33C>T (p.Asp11=)
n.412C>T
21g.34887008G>CCA410203974RUNX1c.186C>G (p.Asp62Glu)
c.105C>G (p.Asp35Glu)
c.150C>G (p.Asp50Glu)
c.147C>G (p.Asp49Glu)
c.59-6295C>G (n.59-6295C>G)
n.365C>G
c.33C>G (p.Asp11Glu)
n.412C>G
ClinVar dbSNP
21g.34887008G=CA2387297202RUNX1c.186C= (p.Asp62=)
c.105C= (p.Asp35=)
c.150C= (p.Asp50=)
c.147C= (p.Asp49=)
c.59-6295C= (n.59-6295C=)
n.365C=
c.33C= (p.Asp11=)
n.412C=
21g.34887008G>TCA320642855RUNX1c.186C>A (p.Asp62Glu)
c.105C>A (p.Asp35Glu)
c.150C>A (p.Asp50Glu)
c.147C>A (p.Asp49Glu)
c.59-6295C>A (n.59-6295C>A)
n.365C>A
c.33C>A (p.Asp11Glu)
n.412C>A
ClinVar dbSNP gnomAD v4
21g.34887009delCA2504623648RUNX1c.185del (p.Asp62AlafsTer10)
c.104del (p.Asp35AlafsTer10)
c.149del (p.Asp50AlafsTer10)
c.146del (p.Asp49AlafsTer10)
c.59-6296del (n.59-6296del)
n.364del
c.32del (p.Asp11AlafsTer10)
n.411del
21g.34887009T>ACA410203977RUNX1c.185A>T (p.Asp62Val)
c.104A>T (p.Asp35Val)
c.149A>T (p.Asp50Val)
c.146A>T (p.Asp49Val)
c.59-6296A>T (n.59-6296A>T)
n.364A>T
c.32A>T (p.Asp11Val)
n.411A>T
dbSNP
21g.34887009T>CCA410203979RUNX1c.185A>G (p.Asp62Gly)
c.104A>G (p.Asp35Gly)
c.149A>G (p.Asp50Gly)
c.146A>G (p.Asp49Gly)
c.59-6296A>G (n.59-6296A>G)
n.364A>G
c.32A>G (p.Asp11Gly)
n.411A>G
ClinVar dbSNP
21g.34887009T>GCA410203980RUNX1c.185A>C (p.Asp62Ala)
c.104A>C (p.Asp35Ala)
c.149A>C (p.Asp50Ala)
c.146A>C (p.Asp49Ala)
c.59-6296A>C (n.59-6296A>C)
n.364A>C
c.32A>C (p.Asp11Ala)
n.411A>C
dbSNP
21g.34887009_34887010insGCGCCA645607460RUNX1c.184_185insGCGC (p.Asp62GlyfsTer?)
c.103_104insGCGC (p.Asp35GlyfsTer?)
c.148_149insGCGC (p.Asp50GlyfsTer?)
c.145_146insGCGC (p.Asp49GlyfsTer?)
c.59-6297_59-6296insGCGC (n.59-6297_59-6296insGCGC)
n.363_364insGCGC
c.31_32insGCGC (p.Asp11GlyfsTer?)
n.410_411insGCGC
COSMIC
21g.34887010C>ACA410203981RUNX1c.184G>T (p.Asp62Tyr)
c.103G>T (p.Asp35Tyr)
c.148G>T (p.Asp50Tyr)
c.145G>T (p.Asp49Tyr)
c.59-6297G>T (n.59-6297G>T)
n.363G>T
c.31G>T (p.Asp11Tyr)
n.410G>T
dbSNP
21g.34887010C>GCA410203983RUNX1c.184G>C (p.Asp62His)
c.103G>C (p.Asp35His)
c.148G>C (p.Asp50His)
c.145G>C (p.Asp49His)
c.59-6297G>C (n.59-6297G>C)
n.363G>C
c.31G>C (p.Asp11His)
n.410G>C
dbSNP
21g.34887010C>TCA410203985RUNX1c.184G>A (p.Asp62Asn)
c.103G>A (p.Asp35Asn)
c.148G>A (p.Asp50Asn)
c.145G>A (p.Asp49Asn)
c.59-6297G>A (n.59-6297G>A)
n.363G>A
c.31G>A (p.Asp11Asn)
n.410G>A
dbSNP
21g.34887011C>ACA512318938RUNX1c.183G>T (p.Pro61=)
c.102G>T (p.Pro34=)
c.147G>T (p.Pro49=)
c.144G>T (p.Pro48=)
c.59-6298G>T (n.59-6298G>T)
n.362G>T
c.30G>T (p.Pro10=)
n.409G>T
21g.34887011C=CA2387297203RUNX1c.183G= (p.Pro61=)
c.102G= (p.Pro34=)
c.147G= (p.Pro49=)
c.144G= (p.Pro48=)
c.59-6298G= (n.59-6298G=)
n.362G=
c.30G= (p.Pro10=)
n.409G=
21g.34887011C>GCA512318939RUNX1c.183G>C (p.Pro61=)
c.102G>C (p.Pro34=)
c.147G>C (p.Pro49=)
c.144G>C (p.Pro48=)
c.59-6298G>C (n.59-6298G>C)
n.362G>C
c.30G>C (p.Pro10=)
n.409G>C
dbSNP
21g.34887011C>TCA208646RUNX1c.183G>A (p.Pro61=)
c.102G>A (p.Pro34=)
c.147G>A (p.Pro49=)
c.144G>A (p.Pro48=)
c.59-6298G>A (n.59-6298G>A)
n.362G>A
c.30G>A (p.Pro10=)
n.409G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.34887012G>ACA10014573RUNX1c.182C>T (p.Pro61Leu)
c.101C>T (p.Pro34Leu)
c.146C>T (p.Pro49Leu)
c.143C>T (p.Pro48Leu)
c.59-6299C>T (n.59-6299C>T)
n.361C>T
c.29C>T (p.Pro10Leu)
n.408C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.34887012G>CCA410203987RUNX1c.182C>G (p.Pro61Arg)
c.101C>G (p.Pro34Arg)
c.146C>G (p.Pro49Arg)
c.143C>G (p.Pro48Arg)
c.59-6299C>G (n.59-6299C>G)
n.361C>G
c.29C>G (p.Pro10Arg)
n.408C>G
ClinVar dbSNP gnomAD v4
21g.34887012G=CA2387297204RUNX1c.182C= (p.Pro61=)
c.101C= (p.Pro34=)
c.146C= (p.Pro49=)
c.143C= (p.Pro48=)
c.59-6299C= (n.59-6299C=)
n.361C=
c.29C= (p.Pro10=)
n.408C=
21g.34887012G>TCA410203989RUNX1c.182C>A (p.Pro61Gln)
c.101C>A (p.Pro34Gln)
c.146C>A (p.Pro49Gln)
c.143C>A (p.Pro48Gln)
c.59-6299C>A (n.59-6299C>A)
n.361C>A
c.29C>A (p.Pro10Gln)
n.408C>A
dbSNP gnomAD v2 gnomAD v4
21g.34887015dupCA2654380327RUNX1c.182dup (p.Asp62GlyfsTer?)
c.101dup (p.Asp35GlyfsTer?)
c.146dup (p.Asp50GlyfsTer?)
c.143dup (p.Asp49GlyfsTer?)
c.59-6299dup (n.59-6299dup)
n.361dup
c.29dup (p.Asp11GlyfsTer?)
n.408dup
gnomAD v4
21g.34887015delCA2654380328RUNX1c.182del (p.Pro61ArgfsTer11)
c.101del (p.Pro34ArgfsTer11)
c.146del (p.Pro49ArgfsTer11)
c.143del (p.Pro48ArgfsTer11)
c.59-6299del (n.59-6299del)
n.361del
c.29del (p.Pro10ArgfsTer11)
n.408del
gnomAD v4
21g.34887013G>ACA10014574RUNX1c.181C>T (p.Pro61Ser)
c.100C>T (p.Pro34Ser)
c.145C>T (p.Pro49Ser)
c.142C>T (p.Pro48Ser)
c.59-6300C>T (n.59-6300C>T)
n.360C>T
c.28C>T (p.Pro10Ser)
n.407C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.34887013G>CCA410203991RUNX1c.181C>G (p.Pro61Ala)
c.100C>G (p.Pro34Ala)
c.145C>G (p.Pro49Ala)
c.142C>G (p.Pro48Ala)
c.59-6300C>G (n.59-6300C>G)
n.360C>G
c.28C>G (p.Pro10Ala)
n.407C>G
dbSNP
21g.34887013G=CA2387297205RUNX1c.181C= (p.Pro61=)
c.100C= (p.Pro34=)
c.145C= (p.Pro49=)
c.142C= (p.Pro48=)
c.59-6300C= (n.59-6300C=)
n.360C=
c.28C= (p.Pro10=)
n.407C=
21g.34887013G>TCA410203993RUNX1c.181C>A (p.Pro61Thr)
c.100C>A (p.Pro34Thr)
c.145C>A (p.Pro49Thr)
c.142C>A (p.Pro48Thr)
c.59-6300C>A (n.59-6300C>A)
n.360C>A
c.28C>A (p.Pro10Thr)
n.407C>A
ClinVar dbSNP
21g.34887014G>ACA10014575RUNX1c.180C>T (p.Ala60=)
c.99C>T (p.Ala33=)
c.144C>T (p.Ala48=)
c.141C>T (p.Ala47=)
c.59-6301C>T (n.59-6301C>T)
n.359C>T
c.27C>T (p.Ala9=)
n.406C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.34887014G>CCA512318941RUNX1c.180C>G (p.Ala60=)
c.99C>G (p.Ala33=)
c.144C>G (p.Ala48=)
c.141C>G (p.Ala47=)
c.59-6301C>G (n.59-6301C>G)
n.359C>G
c.27C>G (p.Ala9=)
n.406C>G
21g.34887014G=CA2387297206RUNX1c.180C= (p.Ala60=)
c.99C= (p.Ala33=)
c.144C= (p.Ala48=)
c.141C= (p.Ala47=)
c.59-6301C= (n.59-6301C=)
n.359C=
c.27C= (p.Ala9=)
n.406C=
21g.34887014G>TCA512318940RUNX1c.180C>A (p.Ala60=)
c.99C>A (p.Ala33=)
c.144C>A (p.Ala48=)
c.141C>A (p.Ala47=)
c.59-6301C>A (n.59-6301C>A)
n.359C>A
c.27C>A (p.Ala9=)
n.406C>A
ClinVar
21g.34887015G>ACA10014576RUNX1c.179C>T (p.Ala60Val)
c.98C>T (p.Ala33Val)
c.143C>T (p.Ala48Val)
c.140C>T (p.Ala47Val)
c.59-6302C>T (n.59-6302C>T)
n.358C>T
c.26C>T (p.Ala9Val)
n.405C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.34887015G>CCA410203997RUNX1c.179C>G (p.Ala60Gly)
c.98C>G (p.Ala33Gly)
c.143C>G (p.Ala48Gly)
c.140C>G (p.Ala47Gly)
c.59-6302C>G (n.59-6302C>G)
n.358C>G
c.26C>G (p.Ala9Gly)
n.405C>G
21g.34887015G=CA2387297207RUNX1c.179C= (p.Ala60=)
c.98C= (p.Ala33=)
c.143C= (p.Ala48=)
c.140C= (p.Ala47=)
c.59-6302C= (n.59-6302C=)
n.358C=
c.26C= (p.Ala9=)
n.405C=
21g.34887015G>TCA410203999RUNX1c.179C>A (p.Ala60Asp)
c.98C>A (p.Ala33Asp)
c.143C>A (p.Ala48Asp)
c.140C>A (p.Ala47Asp)
c.59-6302C>A (n.59-6302C>A)
n.358C>A
c.26C>A (p.Ala9Asp)
n.405C>A
21g.34887015_34887019delCA2501407093RUNX1c.175_179del (p.Gly59ProfsTer?)
c.94_98del (p.Gly32ProfsTer?)
c.139_143del (p.Gly47ProfsTer?)
c.136_140del (p.Gly46ProfsTer?)
c.59-6306_59-6302del (n.59-6306_59-6302del)
n.354_358del
c.22_26del (p.Gly8ProfsTer?)
n.401_405del
21g.34887016C>ACA410204001RUNX1c.178G>T (p.Ala60Ser)
c.97G>T (p.Ala33Ser)
c.142G>T (p.Ala48Ser)
c.139G>T (p.Ala47Ser)
c.59-6303G>T (n.59-6303G>T)
n.357G>T
c.25G>T (p.Ala9Ser)
n.404G>T
dbSNP
21g.34887016C=CA2387297208RUNX1c.178G= (p.Ala60=)
c.97G= (p.Ala33=)
c.142G= (p.Ala48=)
c.139G= (p.Ala47=)
c.59-6303G= (n.59-6303G=)
n.357G=
c.25G= (p.Ala9=)
n.404G=
21g.34887016C>GCA410204003RUNX1c.178G>C (p.Ala60Pro)
c.97G>C (p.Ala33Pro)
c.142G>C (p.Ala48Pro)
c.139G>C (p.Ala47Pro)
c.59-6303G>C (n.59-6303G>C)
n.357G>C
c.25G>C (p.Ala9Pro)
n.404G>C
ClinVar dbSNP
21g.34887016C>TCA410204005RUNX1c.178G>A (p.Ala60Thr)
c.97G>A (p.Ala33Thr)
c.142G>A (p.Ala48Thr)
c.139G>A (p.Ala47Thr)
c.59-6303G>A (n.59-6303G>A)
n.357G>A
c.25G>A (p.Ala9Thr)
n.404G>A
dbSNP gnomAD v3 gnomAD v4
21g.34887016_34887017insCCCA645607461RUNX1c.178_179insGG (p.Ala60GlyfsTer13)
c.97_98insGG (p.Ala33GlyfsTer13)
c.142_143insGG (p.Ala48GlyfsTer13)
c.139_140insGG (p.Ala47GlyfsTer13)
c.59-6303_59-6302insGG (n.59-6303_59-6302insGG)
n.357_358insGG
c.25_26insGG (p.Ala9GlyfsTer13)
n.404_405insGG
COSMIC
21g.34887024_34887025insAGGAGGGAAGACGCCCAGCGCA2573106212RUNX1c.178_179insTCTTCCCTCCTCGCTGGGCG (p.Ala60ValfsTer19)
c.97_98insTCTTCCCTCCTCGCTGGGCG (p.Ala33ValfsTer19)
c.142_143insTCTTCCCTCCTCGCTGGGCG (p.Ala48ValfsTer19)
c.139_140insTCTTCCCTCCTCGCTGGGCG (p.Ala47ValfsTer19)
c.59-6303_59-6302insTCTTCCCTCCTCGCTGGGCG (n.59-6303_59-6302insTCTTCCCTCCTCGCTGGGCG)
n.357_358insTCTTCCCTCCTCGCTGGGCG
c.25_26insTCTTCCCTCCTCGCTGGGCG (p.Ala9ValfsTer19)
n.404_405insTCTTCCCTCCTCGCTGGGCG
21g.34887017G>ACA320642905RUNX1c.177C>T (p.Gly59=)
c.96C>T (p.Gly32=)
c.141C>T (p.Gly47=)
c.138C>T (p.Gly46=)
c.59-6304C>T (n.59-6304C>T)
n.356C>T
c.24C>T (p.Gly8=)
n.403C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.34887017G>CCA512318944RUNX1c.177C>G (p.Gly59=)
c.96C>G (p.Gly32=)
c.141C>G (p.Gly47=)
c.138C>G (p.Gly46=)
c.59-6304C>G (n.59-6304C>G)
n.356C>G
c.24C>G (p.Gly8=)
n.403C>G
21g.34887017G=CA2387297209RUNX1c.177C= (p.Gly59=)
c.96C= (p.Gly32=)
c.141C= (p.Gly47=)
c.138C= (p.Gly46=)
c.59-6304C= (n.59-6304C=)
n.356C=
c.24C= (p.Gly8=)
n.403C=
21g.34887017G>TCA512318945RUNX1c.177C>A (p.Gly59=)
c.96C>A (p.Gly32=)
c.141C>A (p.Gly47=)
c.138C>A (p.Gly46=)
c.59-6304C>A (n.59-6304C>A)
n.356C>A
c.24C>A (p.Gly8=)
n.403C>A
gnomAD v4
21g.34887018C>ACA410204007RUNX1c.176G>T (p.Gly59Val)
c.95G>T (p.Gly32Val)
c.140G>T (p.Gly47Val)
c.137G>T (p.Gly46Val)
c.59-6305G>T (n.59-6305G>T)
n.355G>T
c.23G>T (p.Gly8Val)
n.402G>T
21g.34887018C=CA2387297210RUNX1c.176G= (p.Gly59=)
c.95G= (p.Gly32=)
c.140G= (p.Gly47=)
c.137G= (p.Gly46=)
c.59-6305G= (n.59-6305G=)
n.355G=
c.23G= (p.Gly8=)
n.402G=
21g.34887018C>GCA410204008RUNX1c.176G>C (p.Gly59Ala)
c.95G>C (p.Gly32Ala)
c.140G>C (p.Gly47Ala)
c.137G>C (p.Gly46Ala)
c.59-6305G>C (n.59-6305G>C)
n.355G>C
c.23G>C (p.Gly8Ala)
n.402G>C
21g.34887018C>TCA410204010RUNX1c.176G>A (p.Gly59Asp)
c.95G>A (p.Gly32Asp)
c.140G>A (p.Gly47Asp)
c.137G>A (p.Gly46Asp)
c.59-6305G>A (n.59-6305G>A)
n.355G>A
c.23G>A (p.Gly8Asp)
n.402G>A
dbSNP gnomAD v3 gnomAD v4
21g.34887019C>ACA410204012RUNX1c.175G>T (p.Gly59Cys)
c.94G>T (p.Gly32Cys)
c.139G>T (p.Gly47Cys)
c.136G>T (p.Gly46Cys)
c.59-6306G>T (n.59-6306G>T)
n.354G>T
c.22G>T (p.Gly8Cys)
n.401G>T
dbSNP
21g.34887019C=CA2387297211RUNX1c.175G= (p.Gly59=)
c.94G= (p.Gly32=)
c.139G= (p.Gly47=)
c.136G= (p.Gly46=)
c.59-6306G= (n.59-6306G=)
n.354G=
c.22G= (p.Gly8=)
n.401G=
21g.34887019C>GCA410204014RUNX1c.175G>C (p.Gly59Arg)
c.94G>C (p.Gly32Arg)
c.139G>C (p.Gly47Arg)
c.136G>C (p.Gly46Arg)
c.59-6306G>C (n.59-6306G>C)
n.354G>C
c.22G>C (p.Gly8Arg)
n.401G>C
21g.34887019C>TCA410204015RUNX1c.175G>A (p.Gly59Ser)
c.94G>A (p.Gly32Ser)
c.139G>A (p.Gly47Ser)
c.136G>A (p.Gly46Ser)
c.59-6306G>A (n.59-6306G>A)
n.354G>A
c.22G>A (p.Gly8Ser)
n.401G>A
21g.34887020C>ACA512318946RUNX1c.174G>T (p.Leu58=)
c.93G>T (p.Leu31=)
c.138G>T (p.Leu46=)
c.135G>T (p.Leu45=)
c.59-6307G>T (n.59-6307G>T)
n.353G>T
c.21G>T (p.Leu7=)
n.400G>T
21g.34887020C>GCA512318947RUNX1c.174G>C (p.Leu58=)
c.93G>C (p.Leu31=)
c.138G>C (p.Leu46=)
c.135G>C (p.Leu45=)
c.59-6307G>C (n.59-6307G>C)
n.353G>C
c.21G>C (p.Leu7=)
n.400G>C
21g.34887020C>TCA512318948RUNX1c.174G>A (p.Leu58=)
c.93G>A (p.Leu31=)
c.138G>A (p.Leu46=)
c.135G>A (p.Leu45=)
c.59-6307G>A (n.59-6307G>A)
n.353G>A
c.21G>A (p.Leu7=)
n.400G>A
21g.34887020_34887074delCA645607462RUNX1c.120_174del (p.Phe40LeufsTer14)
c.39_93del (p.Phe13LeufsTer14)
c.84_138del (p.Phe28LeufsTer14)
c.81_135del (p.Phe27LeufsTer14)
c.59-6361_59-6307del (n.59-6361_59-6307del)
n.299_353del
c.-34_21del
n.346_400del
COSMIC
21g.34887021A=CA2387297212RUNX1c.173T= (p.Leu58=)
c.92T= (p.Leu31=)
c.137T= (p.Leu46=)
c.134T= (p.Leu45=)
c.59-6308T= (n.59-6308T=)
n.352T=
c.20T= (p.Leu7=)
n.399T=
21g.34887021A>CCA410204020RUNX1c.173T>G (p.Leu58Arg)
c.92T>G (p.Leu31Arg)
c.137T>G (p.Leu46Arg)
c.134T>G (p.Leu45Arg)
c.59-6308T>G (n.59-6308T>G)
n.352T>G
c.20T>G (p.Leu7Arg)
n.399T>G
21g.34887021A>GCA410204021RUNX1c.173T>C (p.Leu58Pro)
c.92T>C (p.Leu31Pro)
c.137T>C (p.Leu46Pro)
c.134T>C (p.Leu45Pro)
c.59-6308T>C (n.59-6308T>C)
n.352T>C
c.20T>C (p.Leu7Pro)
n.399T>C
dbSNP
21g.34887021A>TCA410204018RUNX1c.173T>A (p.Leu58Gln)
c.92T>A (p.Leu31Gln)
c.137T>A (p.Leu46Gln)
c.134T>A (p.Leu45Gln)
c.59-6308T>A (n.59-6308T>A)
n.352T>A
c.20T>A (p.Leu7Gln)
n.399T>A
dbSNP
21g.34887027_34887081delCA645607463RUNX1c.119_173del (p.Phe40TrpfsTer14)
c.38_92del (p.Phe13TrpfsTer14)
c.83_137del (p.Phe28TrpfsTer14)
c.80_134del (p.Phe27TrpfsTer14)
c.59-6362_59-6308del (n.59-6362_59-6308del)
n.298_352del
c.-35_20del
n.345_399del
COSMIC
21g.34887022G>ACA512318949RUNX1c.172C>T (p.Leu58=)
c.91C>T (p.Leu31=)
c.136C>T (p.Leu46=)
c.133C>T (p.Leu45=)
c.59-6309C>T (n.59-6309C>T)
n.351C>T
c.19C>T (p.Leu7=)
n.398C>T
ClinVar dbSNP gnomAD v4
21g.34887022G>CCA410204025RUNX1c.172C>G (p.Leu58Val)
c.91C>G (p.Leu31Val)
c.136C>G (p.Leu46Val)
c.133C>G (p.Leu45Val)
c.59-6309C>G (n.59-6309C>G)
n.351C>G
c.19C>G (p.Leu7Val)
n.398C>G
21g.34887022G>TCA410204024RUNX1c.172C>A (p.Leu58Met)
c.91C>A (p.Leu31Met)
c.136C>A (p.Leu46Met)
c.133C>A (p.Leu45Met)
c.59-6309C>A (n.59-6309C>A)
n.351C>A
c.19C>A (p.Leu7Met)
n.398C>A
21g.34887023C>ACA512318951RUNX1c.171G>T (p.Pro57=)
c.90G>T (p.Pro30=)
c.135G>T (p.Pro45=)
c.132G>T (p.Pro44=)
c.59-6310G>T (n.59-6310G>T)
n.350G>T
c.18G>T (p.Pro6=)
n.397G>T
21g.34887023C>GCA512318952RUNX1c.171G>C (p.Pro57=)
c.90G>C (p.Pro30=)
c.135G>C (p.Pro45=)
c.132G>C (p.Pro44=)
c.59-6310G>C (n.59-6310G>C)
n.350G>C
c.18G>C (p.Pro6=)
n.397G>C
21g.34887023C>TCA512318950RUNX1c.171G>A (p.Pro57=)
c.90G>A (p.Pro30=)
c.135G>A (p.Pro45=)
c.132G>A (p.Pro44=)
c.59-6310G>A (n.59-6310G>A)
n.350G>A
c.18G>A (p.Pro6=)
n.397G>A
ClinVar dbSNP gnomAD v4
21g.34887024G>ACA410204032RUNX1c.170C>T (p.Pro57Leu)
c.89C>T (p.Pro30Leu)
c.134C>T (p.Pro45Leu)
c.131C>T (p.Pro44Leu)
c.59-6311C>T (n.59-6311C>T)
n.349C>T
c.17C>T (p.Pro6Leu)
n.396C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
21g.34887024G>CCA410204028RUNX1c.170C>G (p.Pro57Arg)
c.89C>G (p.Pro30Arg)
c.134C>G (p.Pro45Arg)
c.131C>G (p.Pro44Arg)
c.59-6311C>G (n.59-6311C>G)
n.349C>G
c.17C>G (p.Pro6Arg)
n.396C>G
ClinVar dbSNP gnomAD v2 gnomAD v4
21g.34887024G=CA2387297213RUNX1c.170C= (p.Pro57=)
c.89C= (p.Pro30=)
c.134C= (p.Pro45=)
c.131C= (p.Pro44=)
c.59-6311C= (n.59-6311C=)
n.349C=
c.17C= (p.Pro6=)
n.396C=
21g.34887024G>TCA410204030RUNX1c.170C>A (p.Pro57Gln)
c.89C>A (p.Pro30Gln)
c.134C>A (p.Pro45Gln)
c.131C>A (p.Pro44Gln)
c.59-6311C>A (n.59-6311C>A)
n.349C>A
c.17C>A (p.Pro6Gln)
n.396C>A
21g.34887025G>ACA410204034RUNX1c.169C>T (p.Pro57Ser)
c.88C>T (p.Pro30Ser)
c.133C>T (p.Pro45Ser)
c.130C>T (p.Pro44Ser)
c.59-6312C>T (n.59-6312C>T)
n.348C>T
c.16C>T (p.Pro6Ser)
n.395C>T
dbSNP gnomAD v4
21g.34887025G>CCA410204036RUNX1c.169C>G (p.Pro57Ala)
c.88C>G (p.Pro30Ala)
c.133C>G (p.Pro45Ala)
c.130C>G (p.Pro44Ala)
c.59-6312C>G (n.59-6312C>G)
n.348C>G
c.16C>G (p.Pro6Ala)
n.395C>G
21g.34887025G=CA2387297215RUNX1c.169C= (p.Pro57=)
c.88C= (p.Pro30=)
c.133C= (p.Pro45=)
c.130C= (p.Pro44=)
c.59-6312C= (n.59-6312C=)
n.348C=
c.16C= (p.Pro6=)
n.395C=
21g.34887025G>TCA410204037RUNX1c.169C>A (p.Pro57Thr)
c.88C>A (p.Pro30Thr)
c.133C>A (p.Pro45Thr)
c.130C>A (p.Pro44Thr)
c.59-6312C>A (n.59-6312C>A)
n.348C>A
c.16C>A (p.Pro6Thr)
n.395C>A
21g.34887027_34887031dupCA2387297214RUNX1c.165_169dup (p.Pro57ArgfsTer17)
c.84_88dup (p.Pro30ArgfsTer17)
c.129_133dup (p.Pro45ArgfsTer17)
c.126_130dup (p.Pro44ArgfsTer17)
c.59-6316_59-6312dup (n.59-6316_59-6312dup)
n.344_348dup
c.12_16dup (p.Pro6ArgfsTer17)
n.391_395dup
dbSNP
21g.34887026C>ACA410204039RUNX1c.168G>T (p.Leu56Phe)
c.87G>T (p.Leu29Phe)
c.132G>T (p.Leu44Phe)
c.129G>T (p.Leu43Phe)
c.59-6313G>T (n.59-6313G>T)
n.347G>T
c.15G>T (p.Leu5Phe)
n.394G>T
dbSNP
21g.34887026C=CA2387297216RUNX1c.168G= (p.Leu56=)
c.87G= (p.Leu29=)
c.132G= (p.Leu44=)
c.129G= (p.Leu43=)
c.59-6313G= (n.59-6313G=)
n.347G=
c.15G= (p.Leu5=)
n.394G=
21g.34887026C>GCA410204041RUNX1c.168G>C (p.Leu56Phe)
c.87G>C (p.Leu29Phe)
c.132G>C (p.Leu44Phe)
c.129G>C (p.Leu43Phe)
c.59-6313G>C (n.59-6313G>C)
n.347G>C
c.15G>C (p.Leu5Phe)
n.394G>C
21g.34887026C>TCA10014577RUNX1c.168G>A (p.Leu56=)
c.87G>A (p.Leu29=)
c.132G>A (p.Leu44=)
c.129G>A (p.Leu43=)
c.59-6313G>A (n.59-6313G>A)
n.347G>A
c.15G>A (p.Leu5=)
n.394G>A
dbSNP ExAC gnomAD v2 gnomAD v4
21g.34887027_34887029delCA1139771056RUNX1c.166_168del (p.Leu56del)
c.85_87del (p.Leu29del)
c.130_132del (p.Leu44del)
c.127_129del (p.Leu43del)
c.59-6315_59-6313del (n.59-6315_59-6313del)
n.345_347del
c.13_15del (p.Leu5del)
n.392_394del
21g.34887027A=CA2387297217RUNX1c.167T= (p.Leu56=)
c.86T= (p.Leu29=)
c.131T= (p.Leu44=)
c.128T= (p.Leu43=)
c.59-6314T= (n.59-6314T=)
n.346T=
c.14T= (p.Leu5=)
n.393T=
21g.34887027A>CCA410204042RUNX1c.167T>G (p.Leu56Trp)
c.86T>G (p.Leu29Trp)
c.131T>G (p.Leu44Trp)
c.128T>G (p.Leu43Trp)
c.59-6314T>G (n.59-6314T>G)
n.346T>G
c.14T>G (p.Leu5Trp)
n.393T>G
dbSNP
21g.34887027A>GCA10014578RUNX1c.167T>C (p.Leu56Ser)
c.86T>C (p.Leu29Ser)
c.131T>C (p.Leu44Ser)
c.128T>C (p.Leu43Ser)
c.59-6314T>C (n.59-6314T>C)
n.346T>C
c.14T>C (p.Leu5Ser)
n.393T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.34887027A>TCA410204045RUNX1c.167T>A (p.Leu56Ter)
c.86T>A (p.Leu29Ter)
c.131T>A (p.Leu44Ter)
c.128T>A (p.Leu43Ter)
c.59-6314T>A (n.59-6314T>A)
n.346T>A
c.14T>A (p.Leu5Ter)
n.393T>A
dbSNP
21g.34887028_34887076delCA1139655378RUNX1c.119_167del (p.Phe40CysfsTer16)
c.38_86del (p.Phe13CysfsTer16)
c.83_131del (p.Phe28CysfsTer16)
c.80_128del (p.Phe27CysfsTer16)
c.59-6362_59-6314del (n.59-6362_59-6314del)
n.298_346del
c.-35_14del
n.345_393del
21g.34887027_34887028insTCAGCA645607465RUNX1c.166_167insCTGA (p.Leu56SerfsTer?)
c.85_86insCTGA (p.Leu29SerfsTer?)
c.130_131insCTGA (p.Leu44SerfsTer?)
c.127_128insCTGA (p.Leu43SerfsTer?)
c.59-6315_59-6314insCTGA (n.59-6315_59-6314insCTGA)
n.345_346insCTGA
c.13_14insCTGA (p.Leu5SerfsTer?)
n.392_393insCTGA
COSMIC
21g.34887028A=CA2387297218RUNX1c.166T= (p.Leu56=)
c.85T= (p.Leu29=)
c.130T= (p.Leu44=)
c.127T= (p.Leu43=)
c.59-6315T= (n.59-6315T=)
n.345T=
c.13T= (p.Leu5=)
n.392T=
21g.34887028A>CCA410204048RUNX1c.166T>G (p.Leu56Val)
c.85T>G (p.Leu29Val)
c.130T>G (p.Leu44Val)
c.127T>G (p.Leu43Val)
c.59-6315T>G (n.59-6315T>G)
n.345T>G
c.13T>G (p.Leu5Val)
n.392T>G
21g.34887028A>GCA512318953RUNX1c.166T>C (p.Leu56=)
c.85T>C (p.Leu29=)
c.130T>C (p.Leu44=)
c.127T>C (p.Leu43=)
c.59-6315T>C (n.59-6315T>C)
n.345T>C
c.13T>C (p.Leu5=)
n.392T>C
ClinVar
21g.34887028A>TCA410204047RUNX1c.166T>A (p.Leu56Met)
c.85T>A (p.Leu29Met)
c.130T>A (p.Leu44Met)
c.127T>A (p.Leu43Met)
c.59-6315T>A (n.59-6315T>A)
n.345T>A
c.13T>A (p.Leu5Met)
n.392T>A
21g.34887028_34887082delCA645607464RUNX1c.112_166del (p.Arg38CysfsTer16)
c.31_85del (p.Arg11CysfsTer16)
c.76_130del (p.Arg26CysfsTer16)
c.73_127del (p.Arg25CysfsTer16)
c.59-6369_59-6315del (n.59-6369_59-6315del)
n.291_345del
c.-42_13del
n.338_392del
COSMIC
21g.34887029C>ACA10014579RUNX1c.165G>T (p.Ala55=)
c.84G>T (p.Ala28=)
c.129G>T (p.Ala43=)
c.126G>T (p.Ala42=)
c.59-6316G>T (n.59-6316G>T)
n.344G>T
c.12G>T (p.Ala4=)
n.391G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.34887029C=CA2387297220RUNX1c.165G= (p.Ala55=)
c.84G= (p.Ala28=)
c.129G= (p.Ala43=)
c.126G= (p.Ala42=)
c.59-6316G= (n.59-6316G=)
n.344G=
c.12G= (p.Ala4=)
n.391G=
21g.34887029C>GCA512318954RUNX1c.165G>C (p.Ala55=)
c.84G>C (p.Ala28=)
c.129G>C (p.Ala43=)
c.126G>C (p.Ala42=)
c.59-6316G>C (n.59-6316G>C)
n.344G>C
c.12G>C (p.Ala4=)
n.391G>C
21g.34887029C>TCA512318955RUNX1c.165G>A (p.Ala55=)
c.84G>A (p.Ala28=)
c.129G>A (p.Ala43=)
c.126G>A (p.Ala42=)
c.59-6316G>A (n.59-6316G>A)
n.344G>A
c.12G>A (p.Ala4=)
n.391G>A
ClinVar dbSNP gnomAD v4
21g.34887029dupCA2387297219RUNX1c.165dup (p.Leu56ValfsTer?)
c.84dup (p.Leu29ValfsTer?)
c.129dup (p.Leu44ValfsTer?)
c.126dup (p.Leu43ValfsTer?)
c.59-6316dup (n.59-6316dup)
n.344dup
c.12dup (p.Leu5ValfsTer?)
n.391dup
ClinVar dbSNP
21g.34887030_34887031delCA2695202299RUNX1c.164_165del (p.Ala55ValfsTer?)
c.83_84del (p.Ala28ValfsTer?)
c.128_129del (p.Ala43ValfsTer?)
c.125_126del (p.Ala42ValfsTer?)
c.59-6317_59-6316del (n.59-6317_59-6316del)
n.343_344del
c.11_12del (p.Ala4ValfsTer?)
n.390_391del
21g.34887030G>ACA410204050RUNX1c.164C>T (p.Ala55Val)
c.83C>T (p.Ala28Val)
c.128C>T (p.Ala43Val)
c.125C>T (p.Ala42Val)
c.59-6317C>T (n.59-6317C>T)
n.343C>T
c.11C>T (p.Ala4Val)
n.390C>T
dbSNP gnomAD v2 gnomAD v4
21g.34887030G>CCA410204052RUNX1c.164C>G (p.Ala55Gly)
c.83C>G (p.Ala28Gly)
c.128C>G (p.Ala43Gly)
c.125C>G (p.Ala42Gly)
c.59-6317C>G (n.59-6317C>G)
n.343C>G
c.11C>G (p.Ala4Gly)
n.390C>G
gnomAD v4
21g.34887030G=CA913189255RUNX1c.164C= (p.Ala55=)
c.83C= (p.Ala28=)
c.128C= (p.Ala43=)
c.125C= (p.Ala42=)
c.59-6317C= (n.59-6317C=)
n.343C=
c.11C= (p.Ala4=)
n.390C=
21g.34887030G>TCA410204054RUNX1c.164C>A (p.Ala55Glu)
c.83C>A (p.Ala28Glu)
c.128C>A (p.Ala43Glu)
c.125C>A (p.Ala42Glu)
c.59-6317C>A (n.59-6317C>A)
n.343C>A
c.11C>A (p.Ala4Glu)
n.390C>A
ClinVar dbSNP
21g.34887030dupCA913189257RUNX1c.164dup (p.Leu56ValfsTer?)
c.83dup (p.Leu29ValfsTer?)
c.128dup (p.Leu44ValfsTer?)
c.125dup (p.Leu43ValfsTer?)
c.59-6317dup (n.59-6317dup)
n.343dup
c.11dup (p.Leu5ValfsTer?)
n.390dup
21g.34887030_34887031insTCA916086495RUNX1c.163_164insA (p.Ala55AspfsTer?)
c.82_83insA (p.Ala28AspfsTer?)
c.127_128insA (p.Ala43AspfsTer?)
c.124_125insA (p.Ala42AspfsTer?)
c.59-6318_59-6317insA (n.59-6318_59-6317insA)
n.342_343insA
c.10_11insA (p.Ala4AspfsTer?)
n.389_390insA
21g.34887031C>ACA410204056RUNX1c.163G>T (p.Ala55Ser)
c.82G>T (p.Ala28Ser)
c.127G>T (p.Ala43Ser)
c.124G>T (p.Ala42Ser)
c.59-6318G>T (n.59-6318G>T)
n.342G>T
c.10G>T (p.Ala4Ser)
n.389G>T
21g.34887031C=CA2387297221RUNX1c.163G= (p.Ala55=)
c.82G= (p.Ala28=)
c.127G= (p.Ala43=)
c.124G= (p.Ala42=)
c.59-6318G= (n.59-6318G=)
n.342G=
c.10G= (p.Ala4=)
n.389G=
21g.34887031C>GCA410204058RUNX1c.163G>C (p.Ala55Pro)
c.82G>C (p.Ala28Pro)
c.127G>C (p.Ala43Pro)
c.124G>C (p.Ala42Pro)
c.59-6318G>C (n.59-6318G>C)
n.342G>C
c.10G>C (p.Ala4Pro)
n.389G>C
21g.34887031C>TCA410204059RUNX1c.163G>A (p.Ala55Thr)
c.82G>A (p.Ala28Thr)
c.127G>A (p.Ala43Thr)
c.124G>A (p.Ala42Thr)
c.59-6318G>A (n.59-6318G>A)
n.342G>A
c.10G>A (p.Ala4Thr)
n.389G>A
dbSNP gnomAD v2
21g.34887032dupCA913189259RUNX1c.163dup (p.Ala55GlyfsTer?)
c.82dup (p.Ala28GlyfsTer?)
c.127dup (p.Ala43GlyfsTer?)
c.124dup (p.Ala42GlyfsTer?)
c.59-6318dup (n.59-6318dup)
n.342dup
c.10dup (p.Ala4GlyfsTer?)
n.389dup
21g.34887032C>ACA410204062RUNX1c.162G>T (p.Glu54Asp)
c.81G>T (p.Glu27Asp)
c.126G>T (p.Glu42Asp)
c.123G>T (p.Glu41Asp)
c.59-6319G>T (n.59-6319G>T)
n.341G>T
c.9G>T (p.Glu3Asp)
n.388G>T
gnomAD v4
21g.34887032C>GCA410204064RUNX1c.162G>C (p.Glu54Asp)
c.81G>C (p.Glu27Asp)
c.126G>C (p.Glu42Asp)
c.123G>C (p.Glu41Asp)
c.59-6319G>C (n.59-6319G>C)
n.341G>C
c.9G>C (p.Glu3Asp)
n.388G>C
21g.34887032C>TCA512318956RUNX1c.162G>A (p.Glu54=)
c.81G>A (p.Glu27=)
c.126G>A (p.Glu42=)
c.123G>A (p.Glu41=)
c.59-6319G>A (n.59-6319G>A)
n.341G>A
c.9G>A (p.Glu3=)
n.388G>A
21g.34887033T>ACA410204065RUNX1c.161A>T (p.Glu54Val)
c.80A>T (p.Glu27Val)
c.125A>T (p.Glu42Val)
c.122A>T (p.Glu41Val)
c.59-6320A>T (n.59-6320A>T)
n.340A>T
c.8A>T (p.Glu3Val)
n.387A>T
ClinVar dbSNP
21g.34887033T>CCA410204067RUNX1c.161A>G (p.Glu54Gly)
c.80A>G (p.Glu27Gly)
c.125A>G (p.Glu42Gly)
c.122A>G (p.Glu41Gly)
c.59-6320A>G (n.59-6320A>G)
n.340A>G
c.8A>G (p.Glu3Gly)
n.387A>G
dbSNP
21g.34887033T>GCA410204069RUNX1c.161A>C (p.Glu54Ala)
c.80A>C (p.Glu27Ala)
c.125A>C (p.Glu42Ala)
c.122A>C (p.Glu41Ala)
c.59-6320A>C (n.59-6320A>C)
n.340A>C
c.8A>C (p.Glu3Ala)
n.387A>C
21g.34887033T=CA2387297222RUNX1c.161A= (p.Glu54=)
c.80A= (p.Glu27=)
c.125A= (p.Glu42=)
c.122A= (p.Glu41=)
c.59-6320A= (n.59-6320A=)
n.340A=
c.8A= (p.Glu3=)
n.387A=
21g.34887034C>ACA410204072RUNX1c.160G>T (p.Glu54Ter)
c.79G>T (p.Glu27Ter)
c.124G>T (p.Glu42Ter)
c.121G>T (p.Glu41Ter)
c.59-6321G>T (n.59-6321G>T)
n.339G>T
c.7G>T (p.Glu3Ter)
n.386G>T
dbSNP gnomAD v4
21g.34887034C>GCA410204074RUNX1c.160G>C (p.Glu54Gln)
c.79G>C (p.Glu27Gln)
c.124G>C (p.Glu42Gln)
c.121G>C (p.Glu41Gln)
c.59-6321G>C (n.59-6321G>C)
n.339G>C
c.7G>C (p.Glu3Gln)
n.386G>C
ClinVar dbSNP gnomAD v4 COSMIC
21g.34887034C>TCA410204071RUNX1c.160G>A (p.Glu54Lys)
c.79G>A (p.Glu27Lys)
c.124G>A (p.Glu42Lys)
c.121G>A (p.Glu41Lys)
c.59-6321G>A (n.59-6321G>A)
n.339G>A
c.7G>A (p.Glu3Lys)
n.386G>A
ClinVar dbSNP
21g.34887034_34887035delinsCGCA2387297223RUNX1c.159_160delinsCG (p.Ser53=)
c.78_79delinsCG (p.Ser26=)
c.123_124delinsCG (p.Ser41=)
c.120_121delinsCG (p.Ser40=)
c.59-6322_59-6321delinsCG (n.59-6322_59-6321delinsCG)
n.338_339delinsCG
c.6_7delinsCG (p.Ser2=)
n.385_386delinsCG
21g.34887035delCA658824424RUNX1c.159del (p.Ser53ArgfsTer19)
c.78del (p.Ser26ArgfsTer19)
c.123del (p.Ser41ArgfsTer19)
c.120del (p.Ser40ArgfsTer19)
c.59-6322del (n.59-6322del)
n.338del
c.6del (p.Ser2ArgfsTer19)
n.385del
ClinVar dbSNP
21g.34887035G>ACA512318957RUNX1c.159C>T (p.Ser53=)
c.78C>T (p.Ser26=)
c.123C>T (p.Ser41=)
c.120C>T (p.Ser40=)
c.59-6322C>T (n.59-6322C>T)
n.338C>T
c.6C>T (p.Ser2=)
n.385C>T
dbSNP gnomAD v4
21g.34887035G>CCA410204076RUNX1c.159C>G (p.Ser53Arg)
c.78C>G (p.Ser26Arg)
c.123C>G (p.Ser41Arg)
c.120C>G (p.Ser40Arg)
c.59-6322C>G (n.59-6322C>G)
n.338C>G
c.6C>G (p.Ser2Arg)
n.385C>G
dbSNP gnomAD v4
21g.34887035G>TCA410204078RUNX1c.159C>A (p.Ser53Arg)
c.78C>A (p.Ser26Arg)
c.123C>A (p.Ser41Arg)
c.120C>A (p.Ser40Arg)
c.59-6322C>A (n.59-6322C>A)
n.338C>A
c.6C>A (p.Ser2Arg)
n.385C>A
gnomAD v4
21g.34887035_34887036insGGCA2695202088RUNX1c.159_160insCC (p.Glu54ProfsTer19)
c.78_79insCC (p.Glu27ProfsTer19)
c.123_124insCC (p.Glu42ProfsTer19)
c.120_121insCC (p.Glu41ProfsTer19)
c.59-6322_59-6321insCC (n.59-6322_59-6321insCC)
n.338_339insCC
c.6_7insCC (p.Glu3ProfsTer19)
n.385_386insCC
21g.34887036C>ACA410204080RUNX1c.158G>T (p.Ser53Ile)
c.77G>T (p.Ser26Ile)
c.122G>T (p.Ser41Ile)
c.119G>T (p.Ser40Ile)
c.59-6323G>T (n.59-6323G>T)
n.337G>T
c.5G>T (p.Ser2Ile)
n.384G>T
21g.34887036C=CA2387297224RUNX1c.158G= (p.Ser53=)
c.77G= (p.Ser26=)
c.122G= (p.Ser41=)
c.119G= (p.Ser40=)
c.59-6323G= (n.59-6323G=)
n.337G=
c.5G= (p.Ser2=)
n.384G=
21g.34887036C>GCA410204082RUNX1c.158G>C (p.Ser53Thr)
c.77G>C (p.Ser26Thr)
c.122G>C (p.Ser41Thr)
c.119G>C (p.Ser40Thr)
c.59-6323G>C (n.59-6323G>C)
n.337G>C
c.5G>C (p.Ser2Thr)
n.384G>C
21g.34887036C>TCA10014580RUNX1c.158G>A (p.Ser53Asn)
c.77G>A (p.Ser26Asn)
c.122G>A (p.Ser41Asn)
c.119G>A (p.Ser40Asn)
c.59-6323G>A (n.59-6323G>A)
n.337G>A
c.5G>A (p.Ser2Asn)
n.384G>A
dbSNP ExAC gnomAD v2 gnomAD v4
21g.34887038_34887047dupCA2499225884RUNX1c.149_158dup (p.Ser53ArgfsTer?)
c.68_77dup (p.Ser26ArgfsTer?)
c.113_122dup (p.Ser41ArgfsTer?)
c.110_119dup (p.Ser40ArgfsTer?)
c.59-6332_59-6323dup (n.59-6332_59-6323dup)
n.328_337dup
c.-5_5dup (p.Ser2ArgfsTer?)
n.375_384dup
ClinVar dbSNP
21g.34887037delCA645607466RUNX1c.157del (p.Ser53AlafsTer19)
c.76del (p.Ser26AlafsTer19)
c.121del (p.Ser41AlafsTer19)
c.118del (p.Ser40AlafsTer19)
c.59-6324del (n.59-6324del)
n.336del
c.4del (p.Ser2AlafsTer19)
n.383del
COSMIC
21g.34887037T>ACA410204085RUNX1c.157A>T (p.Ser53Cys)
c.76A>T (p.Ser26Cys)
c.121A>T (p.Ser41Cys)
c.118A>T (p.Ser40Cys)
c.59-6324A>T (n.59-6324A>T)
n.336A>T
c.4A>T (p.Ser2Cys)
n.383A>T
21g.34887037T>CCA410204087RUNX1c.157A>G (p.Ser53Gly)
c.76A>G (p.Ser26Gly)
c.121A>G (p.Ser41Gly)
c.118A>G (p.Ser40Gly)
c.59-6324A>G (n.59-6324A>G)
n.336A>G
c.4A>G (p.Ser2Gly)
n.383A>G
ClinVar dbSNP
21g.34887037T>GCA410204089RUNX1c.157A>C (p.Ser53Arg)
c.76A>C (p.Ser26Arg)
c.121A>C (p.Ser41Arg)
c.118A>C (p.Ser40Arg)
c.59-6324A>C (n.59-6324A>C)
n.336A>C
c.4A>C (p.Ser2Arg)
n.383A>C
dbSNP
21g.34887037T=CA2387297225RUNX1c.157A= (p.Ser53=)
c.76A= (p.Ser26=)
c.121A= (p.Ser41=)
c.118A= (p.Ser40=)
c.59-6324A= (n.59-6324A=)
n.336A=
c.4A= (p.Ser2=)
n.383A=
21g.34887038C>ACA410204091RUNX1c.156G>T (p.Met52Ile)
c.75G>T (p.Met25Ile)
c.120G>T (p.Met40Ile)
c.117G>T (p.Met39Ile)
c.59-6325G>T (n.59-6325G>T)
n.335G>T
c.3G>T (p.Met1Ile)
n.382G>T
gnomAD v4
21g.34887038C=CA2387297226RUNX1c.156G= (p.Met52=)
c.75G= (p.Met25=)
c.120G= (p.Met40=)
c.117G= (p.Met39=)
c.59-6325G= (n.59-6325G=)
n.335G=
c.3G= (p.Met1=)
n.382G=
21g.34887038C>GCA410204093RUNX1c.156G>C (p.Met52Ile)
c.75G>C (p.Met25Ile)
c.120G>C (p.Met40Ile)
c.117G>C (p.Met39Ile)
c.59-6325G>C (n.59-6325G>C)
n.335G>C
c.3G>C (p.Met1Ile)
n.382G>C
21g.34887038C>TCA410204095RUNX1c.156G>A (p.Met52Ile)
c.75G>A (p.Met25Ile)
c.120G>A (p.Met40Ile)
c.117G>A (p.Met39Ile)
c.59-6325G>A (n.59-6325G>A)
n.335G>A
c.3G>A (p.Met1Ile)
n.382G>A
ClinVar dbSNP
21g.34887039A=CA2387297227RUNX1c.155T= (p.Met52=)
c.74T= (p.Met25=)
c.119T= (p.Met40=)
c.116T= (p.Met39=)
c.59-6326T= (n.59-6326T=)
n.334T=
c.2T= (p.Met1=)
n.381T=
21g.34887039A>CCA410204098RUNX1c.155T>G (p.Met52Arg)
c.74T>G (p.Met25Arg)
c.119T>G (p.Met40Arg)
c.116T>G (p.Met39Arg)
c.59-6326T>G (n.59-6326T>G)
n.334T>G
c.2T>G (p.Met1Arg)
n.381T>G
21g.34887039A>GCA320642941RUNX1c.155T>C (p.Met52Thr)
c.74T>C (p.Met25Thr)
c.119T>C (p.Met40Thr)
c.116T>C (p.Met39Thr)
c.59-6326T>C (n.59-6326T>C)
n.334T>C
c.2T>C (p.Met1Thr)
n.381T>C
dbSNP gnomAD v4
21g.34887039A>TCA10014581RUNX1c.155T>A (p.Met52Lys)
c.74T>A (p.Met25Lys)
c.119T>A (p.Met40Lys)
c.116T>A (p.Met39Lys)
c.59-6326T>A (n.59-6326T>A)
n.334T>A
c.2T>A (p.Met1Lys)
n.381T>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.34887040T>ACA410204101RUNX1c.154A>T (p.Met52Leu)
c.73A>T (p.Met25Leu)
c.118A>T (p.Met40Leu)
c.115A>T (p.Met39Leu)
c.59-6327A>T (n.59-6327A>T)
n.333A>T
c.1A>T (p.Met1Leu)
n.380A>T
21g.34887040T>CCA410204103RUNX1c.154A>G (p.Met52Val)
c.73A>G (p.Met25Val)
c.118A>G (p.Met40Val)
c.115A>G (p.Met39Val)
c.59-6327A>G (n.59-6327A>G)
n.333A>G
c.1A>G (p.Met1Val)
n.380A>G
ClinVar
21g.34887040T>GCA410204104RUNX1c.154A>C (p.Met52Leu)
c.73A>C (p.Met25Leu)
c.118A>C (p.Met40Leu)
c.115A>C (p.Met39Leu)
c.59-6327A>C (n.59-6327A>C)
n.333A>C
c.1A>C (p.Met1Leu)
n.380A>C
21g.34887041C>ACA10014582RUNX1c.153G>T (p.Lys51Asn)
c.72G>T (p.Lys24Asn)
c.117G>T (p.Lys39Asn)
c.114G>T (p.Lys38Asn)
c.59-6328G>T (n.59-6328G>T)
n.332G>T
c.-1G>T (n.-1G>T)
n.379G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
21g.34887041C=CA2387297228RUNX1c.153G= (p.Lys51=)
c.72G= (p.Lys24=)
c.117G= (p.Lys39=)
c.114G= (p.Lys38=)
c.59-6328G= (n.59-6328G=)
n.332G=
c.-1G= (n.-1G=)
n.379G=
21g.34887041C>GCA410204108RUNX1c.153G>C (p.Lys51Asn)
c.72G>C (p.Lys24Asn)
c.117G>C (p.Lys39Asn)
c.114G>C (p.Lys38Asn)
c.59-6328G>C (n.59-6328G>C)
n.332G>C
c.-1G>C (n.-1G>C)
n.379G>C
21g.34887041C>TCA512318958RUNX1c.153G>A (p.Lys51=)
c.72G>A (p.Lys24=)
c.117G>A (p.Lys39=)
c.114G>A (p.Lys38=)
c.59-6328G>A (n.59-6328G>A)
n.332G>A
c.-1G>A (n.-1G>A)
n.379G>A
21g.34887041dupCA645607468RUNX1c.153dup (p.Met52AspfsTer?)
c.72dup (p.Met25AspfsTer?)
c.117dup (p.Met40AspfsTer?)
c.114dup (p.Met39AspfsTer?)
c.59-6328dup (n.59-6328dup)
n.332dup
c.-1dup (p.Met1AspfsTer?)
n.379dup
COSMIC
21g.34887042T>ACA410204114RUNX1c.152A>T (p.Lys51Met)
c.71A>T (p.Lys24Met)
c.116A>T (p.Lys39Met)
c.113A>T (p.Lys38Met)
c.59-6329A>T (n.59-6329A>T)
n.331A>T
c.-2A>T (n.-2A>T)
n.378A>T
dbSNP
21g.34887042T>CCA410204111RUNX1c.152A>G (p.Lys51Arg)
c.71A>G (p.Lys24Arg)
c.116A>G (p.Lys39Arg)
c.113A>G (p.Lys38Arg)
c.59-6329A>G (n.59-6329A>G)
n.331A>G
c.-2A>G (n.-2A>G)
n.378A>G
gnomAD v4
21g.34887042T>GCA410204113RUNX1c.152A>C (p.Lys51Thr)
c.71A>C (p.Lys24Thr)
c.116A>C (p.Lys39Thr)
c.113A>C (p.Lys38Thr)
c.59-6329A>C (n.59-6329A>C)
n.331A>C
c.-2A>C (n.-2A>C)
n.378A>C
21g.34887043dupCA2573105910RUNX1c.152dup (p.Met52AspfsTer?)
c.71dup (p.Met25AspfsTer?)
c.116dup (p.Met40AspfsTer?)
c.113dup (p.Met39AspfsTer?)
c.59-6329dup (n.59-6329dup)
n.331dup
c.-2dup (n.-2dup)
n.378dup
21g.34887043T>ACA410204116RUNX1c.151A>T (p.Lys51Ter)
c.70A>T (p.Lys24Ter)
c.115A>T (p.Lys39Ter)
c.112A>T (p.Lys38Ter)
c.59-6330A>T (n.59-6330A>T)
n.330A>T
c.-3A>T (n.-3A>T)
n.377A>T
21g.34887043T>CCA410204118RUNX1c.151A>G (p.Lys51Glu)
c.70A>G (p.Lys24Glu)
c.115A>G (p.Lys39Glu)
c.112A>G (p.Lys38Glu)
c.59-6330A>G (n.59-6330A>G)
n.330A>G
c.-3A>G (n.-3A>G)
n.377A>G
21g.34887043T>GCA410204119RUNX1c.151A>C (p.Lys51Gln)
c.70A>C (p.Lys24Gln)
c.115A>C (p.Lys39Gln)
c.112A>C (p.Lys38Gln)
c.59-6330A>C (n.59-6330A>C)
n.330A>C
c.-3A>C (n.-3A>C)
n.377A>C
21g.34887044G>ACA512318961RUNX1c.150C>T (p.Gly50=)
c.69C>T (p.Gly23=)
c.114C>T (p.Gly38=)
c.111C>T (p.Gly37=)
c.59-6331C>T (n.59-6331C>T)
n.329C>T
c.-4C>T (n.-4C>T)
n.376C>T
21g.34887044G>CCA512318959RUNX1c.150C>G (p.Gly50=)
c.69C>G (p.Gly23=)
c.114C>G (p.Gly38=)
c.111C>G (p.Gly37=)
c.59-6331C>G (n.59-6331C>G)
n.329C>G
c.-4C>G (n.-4C>G)
n.376C>G
dbSNP
21g.34887044G=CA2387297229RUNX1c.150C= (p.Gly50=)
c.69C= (p.Gly23=)
c.114C= (p.Gly38=)
c.111C= (p.Gly37=)
c.59-6331C= (n.59-6331C=)
n.329C=
c.-4C= (n.-4C=)
n.376C=
21g.34887044G>TCA512318960RUNX1c.150C>A (p.Gly50=)
c.69C>A (p.Gly23=)
c.114C>A (p.Gly38=)
c.111C>A (p.Gly37=)
c.59-6331C>A (n.59-6331C>A)
n.329C>A
c.-4C>A (n.-4C>A)
n.376C>A
21g.34887046_34887056delCA2499225885RUNX1c.140_150del (p.Leu47GlnfsTer?)
c.59_69del (p.Leu20GlnfsTer?)
c.104_114del (p.Leu35GlnfsTer?)
c.101_111del (p.Leu34GlnfsTer?)
c.59-6341_59-6331del (n.59-6341_59-6331del)
n.319_329del
c.-14_-4del (n.-14_-4del)
n.366_376del
ClinVar dbSNP
21g.34887045C>ACA410204121RUNX1c.149G>T (p.Gly50Val)
c.68G>T (p.Gly23Val)
c.113G>T (p.Gly38Val)
c.110G>T (p.Gly37Val)
c.59-6332G>T (n.59-6332G>T)
n.328G>T
c.-5G>T (n.-5G>T)
n.375G>T
dbSNP
21g.34887045C>GCA410204122RUNX1c.149G>C (p.Gly50Ala)
c.68G>C (p.Gly23Ala)
c.113G>C (p.Gly38Ala)
c.110G>C (p.Gly37Ala)
c.59-6332G>C (n.59-6332G>C)
n.328G>C
c.-5G>C (n.-5G>C)
n.375G>C
21g.34887045C>TCA410204124RUNX1c.149G>A (p.Gly50Asp)
c.68G>A (p.Gly23Asp)
c.113G>A (p.Gly38Asp)
c.110G>A (p.Gly37Asp)
c.59-6332G>A (n.59-6332G>A)
n.328G>A
c.-5G>A (n.-5G>A)
n.375G>A
ClinVar dbSNP gnomAD v4
21g.34887046C>ACA410204128RUNX1c.148G>T (p.Gly50Cys)
c.67G>T (p.Gly23Cys)
c.112G>T (p.Gly38Cys)
c.109G>T (p.Gly37Cys)
c.148G>T
c.59-6333G>T (n.59-6333G>T)
n.327G>T
c.-6G>T (n.-6G>T)
n.374G>T
dbSNP
21g.34887046C>GCA410204129RUNX1c.148G>C (p.Gly50Arg)
c.67G>C (p.Gly23Arg)
c.112G>C (p.Gly38Arg)
c.109G>C (p.Gly37Arg)
c.148G>C
c.59-6333G>C (n.59-6333G>C)
n.327G>C
c.-6G>C (n.-6G>C)
n.374G>C
ClinVar
21g.34887046C>TCA410204126RUNX1c.148G>A (p.Gly50Ser)
c.67G>A (p.Gly23Ser)
c.112G>A (p.Gly38Ser)
c.109G>A (p.Gly37Ser)
c.148G>A
c.59-6333G>A (n.59-6333G>A)
n.327G>A
c.-6G>A (n.-6G>A)
n.374G>A
21g.34887047delCA645607469RUNX1c.147del (p.Gly50AlafsTer3)
c.66del (p.Gly23AlafsTer3)
c.111del (p.Gly38AlafsTer3)
c.108del (p.Gly37AlafsTer3)
c.147del (p.Pro49=)
c.59-6334del (n.59-6334del)
n.326del
c.-7del (n.-7del)
n.373del
COSMIC COSMIC
21g.34887047T>ACA512318964RUNX1c.147A>T (p.Pro49=)
c.66A>T (p.Pro22=)
c.111A>T (p.Pro37=)
c.108A>T (p.Pro36=)
c.59-6334A>T (n.59-6334A>T)
n.326A>T
c.-7A>T (n.-7A>T)
n.373A>T
21g.34887047T>CCA512318963RUNX1c.147A>G (p.Pro49=)
c.66A>G (p.Pro22=)
c.111A>G (p.Pro37=)
c.108A>G (p.Pro36=)
c.59-6334A>G (n.59-6334A>G)
n.326A>G
c.-7A>G (n.-7A>G)
n.373A>G
ClinVar
21g.34887047T>GCA512318962RUNX1c.147A>C (p.Pro49=)
c.66A>C (p.Pro22=)
c.111A>C (p.Pro37=)
c.108A>C (p.Pro36=)
c.59-6334A>C (n.59-6334A>C)
n.326A>C
c.-7A>C (n.-7A>C)
n.373A>C
COSMIC COSMIC
21g.34887048G>ACA10014583RUNX1c.146C>T (p.Pro49Leu)
c.65C>T (p.Pro22Leu)
c.110C>T (p.Pro37Leu)
c.107C>T (p.Pro36Leu)
c.59-6335C>T (n.59-6335C>T)
n.325C>T
c.-8C>T (n.-8C>T)
n.372C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.34887048G>CCA410204133RUNX1c.146C>G (p.Pro49Arg)
c.65C>G (p.Pro22Arg)
c.110C>G (p.Pro37Arg)
c.107C>G (p.Pro36Arg)
c.59-6335C>G (n.59-6335C>G)
n.325C>G
c.-8C>G (n.-8C>G)
n.372C>G
gnomAD v4
21g.34887048G=CA2387297230RUNX1c.146C= (p.Pro49=)
c.65C= (p.Pro22=)
c.110C= (p.Pro37=)
c.107C= (p.Pro36=)
c.59-6335C= (n.59-6335C=)
n.325C=
c.-8C= (n.-8C=)
n.372C=
21g.34887048G>TCA410204134RUNX1c.146C>A (p.Pro49Gln)
c.65C>A (p.Pro22Gln)
c.110C>A (p.Pro37Gln)
c.107C>A (p.Pro36Gln)
c.59-6335C>A (n.59-6335C>A)
n.325C>A
c.-8C>A (n.-8C>A)
n.372C>A
gnomAD v4
21g.34887050delCA2580098653RUNX1c.146del (p.Pro49GlnfsTer4)
c.65del (p.Pro22GlnfsTer4)
c.110del (p.Pro37GlnfsTer4)
c.107del (p.Pro36GlnfsTer4)
c.146del (p.Pro49GlnfsTer?)
c.59-6335del (n.59-6335del)
n.325del
c.-8del (n.-8del)
n.372del
ClinVar

Number of alleles fetched