Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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
21g.34887049G>ACA410204137RUNX1c.145C>T (p.Pro49Ser)
c.64C>T (p.Pro22Ser)
c.109C>T (p.Pro37Ser)
c.106C>T (p.Pro36Ser)
c.59-6336C>T (n.59-6336C>T)
n.324C>T
c.-9C>T (n.-9C>T)
n.371C>T
ClinVar
21g.34887049G>CCA10014584RUNX1c.145C>G (p.Pro49Ala)
c.64C>G (p.Pro22Ala)
c.109C>G (p.Pro37Ala)
c.106C>G (p.Pro36Ala)
c.59-6336C>G (n.59-6336C>G)
n.324C>G
c.-9C>G (n.-9C>G)
n.371C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.34887049G=CA2387297231RUNX1c.145C= (p.Pro49=)
c.64C= (p.Pro22=)
c.109C= (p.Pro37=)
c.106C= (p.Pro36=)
c.59-6336C= (n.59-6336C=)
n.324C=
c.-9C= (n.-9C=)
n.371C=
21g.34887049G>TCA320642967RUNX1c.145C>A (p.Pro49Thr)
c.64C>A (p.Pro22Thr)
c.109C>A (p.Pro37Thr)
c.106C>A (p.Pro36Thr)
c.59-6336C>A (n.59-6336C>A)
n.324C>A
c.-9C>A (n.-9C>A)
n.371C>A
ClinVar dbSNP gnomAD v3 gnomAD v4
21g.34887050G>ACA10014585RUNX1c.144C>T (p.Ser48=)
c.63C>T (p.Ser21=)
c.108C>T (p.Ser36=)
c.105C>T (p.Ser35=)
c.59-6337C>T (n.59-6337C>T)
n.323C>T
c.-10C>T (n.-10C>T)
n.370C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.34887050G>CCA410204140RUNX1c.144C>G (p.Ser48Arg)
c.63C>G (p.Ser21Arg)
c.108C>G (p.Ser36Arg)
c.105C>G (p.Ser35Arg)
c.59-6337C>G (n.59-6337C>G)
n.323C>G
c.-10C>G (n.-10C>G)
n.370C>G
21g.34887050G=CA2387297232RUNX1c.144C= (p.Ser48=)
c.63C= (p.Ser21=)
c.108C= (p.Ser36=)
c.105C= (p.Ser35=)
c.59-6337C= (n.59-6337C=)
n.323C=
c.-10C= (n.-10C=)
n.370C=
21g.34887050G>TCA410204142RUNX1c.144C>A (p.Ser48Arg)
c.63C>A (p.Ser21Arg)
c.108C>A (p.Ser36Arg)
c.105C>A (p.Ser35Arg)
c.59-6337C>A (n.59-6337C>A)
n.323C>A
c.-10C>A (n.-10C>A)
n.370C>A
ClinVar gnomAD v4
21g.34887051C>ACA410204145RUNX1c.143G>T (p.Ser48Ile)
c.62G>T (p.Ser21Ile)
c.107G>T (p.Ser36Ile)
c.104G>T (p.Ser35Ile)
c.59-6338G>T (n.59-6338G>T)
n.322G>T
c.-11G>T (n.-11G>T)
n.369G>T
21g.34887051C=CA2387297233RUNX1c.143G= (p.Ser48=)
c.62G= (p.Ser21=)
c.107G= (p.Ser36=)
c.104G= (p.Ser35=)
c.59-6338G= (n.59-6338G=)
n.322G=
c.-11G= (n.-11G=)
n.369G=
21g.34887051C>GCA410204147RUNX1c.143G>C (p.Ser48Thr)
c.62G>C (p.Ser21Thr)
c.107G>C (p.Ser36Thr)
c.104G>C (p.Ser35Thr)
c.59-6338G>C (n.59-6338G>C)
n.322G>C
c.-11G>C (n.-11G>C)
n.369G>C
21g.34887051C>TCA10014586RUNX1c.143G>A (p.Ser48Asn)
c.62G>A (p.Ser21Asn)
c.107G>A (p.Ser36Asn)
c.104G>A (p.Ser35Asn)
c.59-6338G>A (n.59-6338G>A)
n.322G>A
c.-11G>A (n.-11G>A)
n.369G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.34887052T>ACA410204150RUNX1c.142A>T (p.Ser48Cys)
c.61A>T (p.Ser21Cys)
c.106A>T (p.Ser36Cys)
c.103A>T (p.Ser35Cys)
c.59-6339A>T (n.59-6339A>T)
n.321A>T
c.-12A>T (n.-12A>T)
n.368A>T
dbSNP
21g.34887052T>CCA410204152RUNX1c.142A>G (p.Ser48Gly)
c.61A>G (p.Ser21Gly)
c.106A>G (p.Ser36Gly)
c.103A>G (p.Ser35Gly)
c.59-6339A>G (n.59-6339A>G)
n.321A>G
c.-12A>G (n.-12A>G)
n.368A>G
dbSNP
21g.34887052T>GCA410204153RUNX1c.142A>C (p.Ser48Arg)
c.61A>C (p.Ser21Arg)
c.106A>C (p.Ser36Arg)
c.103A>C (p.Ser35Arg)
c.59-6339A>C (n.59-6339A>C)
n.321A>C
c.-12A>C (n.-12A>C)
n.368A>C
21g.34887053C>ACA512318967RUNX1c.141G>T (p.Leu47=)
c.60G>T (p.Leu20=)
c.105G>T (p.Leu35=)
c.102G>T (p.Leu34=)
c.59-6340G>T (n.59-6340G>T)
n.320G>T
c.-13G>T (n.-13G>T)
n.367G>T
21g.34887053C>GCA512318966RUNX1c.141G>C (p.Leu47=)
c.60G>C (p.Leu20=)
c.105G>C (p.Leu35=)
c.102G>C (p.Leu34=)
c.59-6340G>C (n.59-6340G>C)
n.320G>C
c.-13G>C (n.-13G>C)
n.367G>C
21g.34887053C>TCA512318965RUNX1c.141G>A (p.Leu47=)
c.60G>A (p.Leu20=)
c.105G>A (p.Leu35=)
c.102G>A (p.Leu34=)
c.59-6340G>A (n.59-6340G>A)
n.320G>A
c.-13G>A (n.-13G>A)
n.367G>A
21g.34887054A=CA2387297234RUNX1c.140T= (p.Leu47=)
c.59T= (p.Leu20=)
c.104T= (p.Leu35=)
c.101T= (p.Leu34=)
c.59-6341T= (n.59-6341T=)
n.319T=
c.-14T= (n.-14T=)
n.366T=
21g.34887054A>CCA410204156RUNX1c.140T>G (p.Leu47Arg)
c.59T>G (p.Leu20Arg)
c.104T>G (p.Leu35Arg)
c.101T>G (p.Leu34Arg)
c.59-6341T>G (n.59-6341T>G)
n.319T>G
c.-14T>G (n.-14T>G)
n.366T>G
21g.34887054A>GCA10014587RUNX1c.140T>C (p.Leu47Pro)
c.59T>C (p.Leu20Pro)
c.104T>C (p.Leu35Pro)
c.101T>C (p.Leu34Pro)
c.59-6341T>C (n.59-6341T>C)
n.319T>C
c.-14T>C (n.-14T>C)
n.366T>C
dbSNP ExAC gnomAD v2
21g.34887054A>TCA10014588RUNX1c.140T>A (p.Leu47Gln)
c.59T>A (p.Leu20Gln)
c.104T>A (p.Leu35Gln)
c.101T>A (p.Leu34Gln)
c.59-6341T>A (n.59-6341T>A)
n.319T>A
c.-14T>A (n.-14T>A)
n.366T>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.34887055G>ACA512318968RUNX1c.139C>T (p.Leu47=)
c.58C>T (p.Leu20=)
c.103C>T (p.Leu35=)
c.100C>T (p.Leu34=)
c.59-6342C>T (n.59-6342C>T)
n.318C>T
c.-15C>T (n.-15C>T)
n.365C>T
21g.34887055G>CCA410204168RUNX1c.139C>G (p.Leu47Val)
c.58C>G (p.Leu20Val)
c.103C>G (p.Leu35Val)
c.100C>G (p.Leu34Val)
c.59-6342C>G (n.59-6342C>G)
n.318C>G
c.-15C>G (n.-15C>G)
n.365C>G
21g.34887055G>TCA410204170RUNX1c.139C>A (p.Leu47Met)
c.58C>A (p.Leu20Met)
c.103C>A (p.Leu35Met)
c.100C>A (p.Leu34Met)
c.59-6342C>A (n.59-6342C>A)
n.318C>A
c.-15C>A (n.-15C>A)
n.365C>A
21g.34887056C>ACA10014589RUNX1c.138G>T (p.Ala46=)
c.57G>T (p.Ala19=)
c.102G>T (p.Ala34=)
c.99G>T (p.Ala33=)
c.59-6343G>T (n.59-6343G>T)
n.317G>T
c.-16G>T (n.-16G>T)
n.364G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.34887056C=CA2387297235RUNX1c.138G= (p.Ala46=)
c.57G= (p.Ala19=)
c.102G= (p.Ala34=)
c.99G= (p.Ala33=)
c.59-6343G= (n.59-6343G=)
n.317G=
c.-16G= (n.-16G=)
n.364G=
21g.34887056C>GCA512318969RUNX1c.138G>C (p.Ala46=)
c.57G>C (p.Ala19=)
c.102G>C (p.Ala34=)
c.99G>C (p.Ala33=)
c.59-6343G>C (n.59-6343G>C)
n.317G>C
c.-16G>C (n.-16G>C)
n.364G>C
dbSNP
21g.34887056C>TCA512318970RUNX1c.138G>A (p.Ala46=)
c.57G>A (p.Ala19=)
c.102G>A (p.Ala34=)
c.99G>A (p.Ala33=)
c.59-6343G>A (n.59-6343G>A)
n.317G>A
c.-16G>A (n.-16G>A)
n.364G>A
dbSNP gnomAD v4
21g.34887057G>ACA410204173RUNX1c.137C>T (p.Ala46Val)
c.56C>T (p.Ala19Val)
c.101C>T (p.Ala34Val)
c.98C>T (p.Ala33Val)
c.59-6344C>T (n.59-6344C>T)
n.316C>T
c.-17C>T (n.-17C>T)
n.363C>T
gnomAD v4
21g.34887057G>CCA410204182RUNX1c.137C>G (p.Ala46Gly)
c.56C>G (p.Ala19Gly)
c.101C>G (p.Ala34Gly)
c.98C>G (p.Ala33Gly)
c.59-6344C>G (n.59-6344C>G)
n.316C>G
c.-17C>G (n.-17C>G)
n.363C>G
21g.34887057G>TCA410204185RUNX1c.137C>A (p.Ala46Glu)
c.56C>A (p.Ala19Glu)
c.101C>A (p.Ala34Glu)
c.98C>A (p.Ala33Glu)
c.59-6344C>A (n.59-6344C>A)
n.316C>A
c.-17C>A (n.-17C>A)
n.363C>A
gnomAD v4
21g.34887058C>ACA410204196RUNX1c.136G>T (p.Ala46Ser)
c.55G>T (p.Ala19Ser)
c.100G>T (p.Ala34Ser)
c.97G>T (p.Ala33Ser)
c.59-6345G>T (n.59-6345G>T)
n.315G>T
c.-18G>T (n.-18G>T)
n.362G>T
21g.34887058C=CA2387297236RUNX1c.136G= (p.Ala46=)
c.55G= (p.Ala19=)
c.100G= (p.Ala34=)
c.97G= (p.Ala33=)
c.59-6345G= (n.59-6345G=)
n.315G=
c.-18G= (n.-18G=)
n.362G=
21g.34887058C>GCA410204198RUNX1c.136G>C (p.Ala46Pro)
c.55G>C (p.Ala19Pro)
c.100G>C (p.Ala34Pro)
c.97G>C (p.Ala33Pro)
c.59-6345G>C (n.59-6345G>C)
n.315G>C
c.-18G>C (n.-18G>C)
n.362G>C
dbSNP
21g.34887058C>TCA410204199RUNX1c.136G>A (p.Ala46Thr)
c.55G>A (p.Ala19Thr)
c.100G>A (p.Ala34Thr)
c.97G>A (p.Ala33Thr)
c.59-6345G>A (n.59-6345G>A)
n.315G>A
c.-18G>A (n.-18G>A)
n.362G>A
ClinVar dbSNP
21g.34887059G>ACA512318973RUNX1c.135C>T (p.Thr45=)
c.54C>T (p.Thr18=)
c.99C>T (p.Thr33=)
c.96C>T (p.Thr32=)
c.59-6346C>T (n.59-6346C>T)
n.314C>T
c.-19C>T (n.-19C>T)
n.361C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
21g.34887059G>CCA512318974RUNX1c.135C>G (p.Thr45=)
c.54C>G (p.Thr18=)
c.99C>G (p.Thr33=)
c.96C>G (p.Thr32=)
c.59-6346C>G (n.59-6346C>G)
n.314C>G
c.-19C>G (n.-19C>G)
n.361C>G
ClinVar dbSNP
21g.34887059G=CA2387297237RUNX1c.135C= (p.Thr45=)
c.54C= (p.Thr18=)
c.99C= (p.Thr33=)
c.96C= (p.Thr32=)
c.59-6346C= (n.59-6346C=)
n.314C=
c.-19C= (n.-19C=)
n.361C=
21g.34887059G>TCA512318972RUNX1c.135C>A (p.Thr45=)
c.54C>A (p.Thr18=)
c.99C>A (p.Thr33=)
c.96C>A (p.Thr32=)
c.59-6346C>A (n.59-6346C>A)
n.314C>A
c.-19C>A (n.-19C>A)
n.361C>A
gnomAD v4
21g.34887061_34887063delCA2573157368RUNX1c.133_135del (p.Thr45del)
c.52_54del (p.Thr18del)
c.97_99del (p.Thr33del)
c.94_96del (p.Thr32del)
c.59-6348_59-6346del (n.59-6348_59-6346del)
n.312_314del
c.-21_-19del (n.-21_-19del)
n.359_361del
ClinVar dbSNP
21g.34887060G>ACA410204200RUNX1c.134C>T (p.Thr45Ile)
c.53C>T (p.Thr18Ile)
c.98C>T (p.Thr33Ile)
c.95C>T (p.Thr32Ile)
c.59-6347C>T (n.59-6347C>T)
n.313C>T
c.-20C>T (n.-20C>T)
n.360C>T
dbSNP gnomAD v4
21g.34887060G>CCA410204202RUNX1c.134C>G (p.Thr45Ser)
c.53C>G (p.Thr18Ser)
c.98C>G (p.Thr33Ser)
c.95C>G (p.Thr32Ser)
c.59-6347C>G (n.59-6347C>G)
n.313C>G
c.-20C>G (n.-20C>G)
n.360C>G
21g.34887060G>TCA410204203RUNX1c.134C>A (p.Thr45Asn)
c.53C>A (p.Thr18Asn)
c.98C>A (p.Thr33Asn)
c.95C>A (p.Thr32Asn)
c.59-6347C>A (n.59-6347C>A)
n.313C>A
c.-20C>A (n.-20C>A)
n.360C>A
21g.34887061T>ACA410204206RUNX1c.133A>T (p.Thr45Ser)
c.52A>T (p.Thr18Ser)
c.97A>T (p.Thr33Ser)
c.94A>T (p.Thr32Ser)
c.59-6348A>T (n.59-6348A>T)
n.312A>T
c.-21A>T (n.-21A>T)
n.359A>T
21g.34887061T>CCA410204209RUNX1c.133A>G (p.Thr45Ala)
c.52A>G (p.Thr18Ala)
c.97A>G (p.Thr33Ala)
c.94A>G (p.Thr32Ala)
c.59-6348A>G (n.59-6348A>G)
n.312A>G
c.-21A>G (n.-21A>G)
n.359A>G
ClinVar
21g.34887061T>GCA410204208RUNX1c.133A>C (p.Thr45Pro)
c.52A>C (p.Thr18Pro)
c.97A>C (p.Thr33Pro)
c.94A>C (p.Thr32Pro)
c.59-6348A>C (n.59-6348A>C)
n.312A>C
c.-21A>C (n.-21A>C)
n.359A>C
21g.34887062G>ACA512318976RUNX1c.132C>T (p.Ser44=)
c.51C>T (p.Ser17=)
c.96C>T (p.Ser32=)
c.93C>T (p.Ser31=)
c.59-6349C>T (n.59-6349C>T)
n.311C>T
c.-22C>T (n.-22C>T)
n.358C>T
dbSNP gnomAD v3 gnomAD v4
21g.34887062G>CCA512318975RUNX1c.132C>G (p.Ser44=)
c.51C>G (p.Ser17=)
c.96C>G (p.Ser32=)
c.93C>G (p.Ser31=)
c.59-6349C>G (n.59-6349C>G)
n.311C>G
c.-22C>G (n.-22C>G)
n.358C>G
21g.34887062G=CA2387297238RUNX1c.132C= (p.Ser44=)
c.51C= (p.Ser17=)
c.96C= (p.Ser32=)
c.93C= (p.Ser31=)
c.59-6349C= (n.59-6349C=)
n.311C=
c.-22C= (n.-22C=)
n.358C=
21g.34887062G>TCA512318977RUNX1c.132C>A (p.Ser44=)
c.51C>A (p.Ser17=)
c.96C>A (p.Ser32=)
c.93C>A (p.Ser31=)
c.59-6349C>A (n.59-6349C>A)
n.311C>A
c.-22C>A (n.-22C>A)
n.358C>A
21g.34887063dupCA2697547500RUNX1c.132dup (p.Thr45HisfsTer?)
c.51dup (p.Thr18HisfsTer?)
c.96dup (p.Thr33HisfsTer?)
c.93dup (p.Thr32HisfsTer?)
c.59-6349dup (n.59-6349dup)
n.311dup
c.-22dup (n.-22dup)
n.358dup
ClinVar
21g.34887063G>ACA410204211RUNX1c.131C>T (p.Ser44Phe)
c.50C>T (p.Ser17Phe)
c.95C>T (p.Ser32Phe)
c.92C>T (p.Ser31Phe)
c.59-6350C>T (n.59-6350C>T)
n.310C>T
c.-23C>T (n.-23C>T)
n.357C>T
21g.34887063G>CCA410204213RUNX1c.131C>G (p.Ser44Cys)
c.50C>G (p.Ser17Cys)
c.95C>G (p.Ser32Cys)
c.92C>G (p.Ser31Cys)
c.59-6350C>G (n.59-6350C>G)
n.310C>G
c.-23C>G (n.-23C>G)
n.357C>G
ClinVar
21g.34887063G>TCA410204215RUNX1c.131C>A (p.Ser44Tyr)
c.50C>A (p.Ser17Tyr)
c.95C>A (p.Ser32Tyr)
c.92C>A (p.Ser31Tyr)
c.59-6350C>A (n.59-6350C>A)
n.310C>A
c.-23C>A (n.-23C>A)
n.357C>A
gnomAD v4
21g.34887064A>CCA410204217RUNX1c.130T>G (p.Ser44Ala)
c.49T>G (p.Ser17Ala)
c.94T>G (p.Ser32Ala)
c.91T>G (p.Ser31Ala)
c.59-6351T>G (n.59-6351T>G)
n.309T>G
c.-24T>G (n.-24T>G)
n.356T>G
21g.34887064A>GCA410204219RUNX1c.130T>C (p.Ser44Pro)
c.49T>C (p.Ser17Pro)
c.94T>C (p.Ser32Pro)
c.91T>C (p.Ser31Pro)
c.59-6351T>C (n.59-6351T>C)
n.309T>C
c.-24T>C (n.-24T>C)
n.356T>C
21g.34887064A>TCA410204220RUNX1c.130T>A (p.Ser44Thr)
c.49T>A (p.Ser17Thr)
c.94T>A (p.Ser32Thr)
c.91T>A (p.Ser31Thr)
c.59-6351T>A (n.59-6351T>A)
n.309T>A
c.-24T>A (n.-24T>A)
n.356T>A
21g.34887065A>CCA512318978RUNX1c.129T>G (p.Pro43=)
c.48T>G (p.Pro16=)
c.93T>G (p.Pro31=)
c.90T>G (p.Pro30=)
c.59-6352T>G (n.59-6352T>G)
n.308T>G
c.-25T>G (n.-25T>G)
n.355T>G
21g.34887065A>GCA512318980RUNX1c.129T>C (p.Pro43=)
c.48T>C (p.Pro16=)
c.93T>C (p.Pro31=)
c.90T>C (p.Pro30=)
c.59-6352T>C (n.59-6352T>C)
n.308T>C
c.-25T>C (n.-25T>C)
n.355T>C
21g.34887065A>TCA512318979RUNX1c.129T>A (p.Pro43=)
c.48T>A (p.Pro16=)
c.93T>A (p.Pro31=)
c.90T>A (p.Pro30=)
c.59-6352T>A (n.59-6352T>A)
n.308T>A
c.-25T>A (n.-25T>A)
n.355T>A
21g.34887066G>ACA410204222RUNX1c.128C>T (p.Pro43Leu)
c.47C>T (p.Pro16Leu)
c.92C>T (p.Pro31Leu)
c.89C>T (p.Pro30Leu)
c.59-6353C>T (n.59-6353C>T)
n.307C>T
c.-26C>T (n.-26C>T)
n.354C>T
21g.34887066G>CCA410204224RUNX1c.128C>G (p.Pro43Arg)
c.47C>G (p.Pro16Arg)
c.92C>G (p.Pro31Arg)
c.89C>G (p.Pro30Arg)
c.59-6353C>G (n.59-6353C>G)
n.307C>G
c.-26C>G (n.-26C>G)
n.354C>G
21g.34887066G>TCA410204226RUNX1c.128C>A (p.Pro43His)
c.47C>A (p.Pro16His)
c.92C>A (p.Pro31His)
c.89C>A (p.Pro30His)
c.59-6353C>A (n.59-6353C>A)
n.307C>A
c.-26C>A (n.-26C>A)
n.354C>A
21g.34887067G>ACA410204228RUNX1c.127C>T (p.Pro43Ser)
c.46C>T (p.Pro16Ser)
c.91C>T (p.Pro31Ser)
c.88C>T (p.Pro30Ser)
c.59-6354C>T (n.59-6354C>T)
n.306C>T
c.-27C>T (n.-27C>T)
n.353C>T
ClinVar dbSNP gnomAD v4
21g.34887067G>CCA410204230RUNX1c.127C>G (p.Pro43Ala)
c.46C>G (p.Pro16Ala)
c.91C>G (p.Pro31Ala)
c.88C>G (p.Pro30Ala)
c.59-6354C>G (n.59-6354C>G)
n.306C>G
c.-27C>G (n.-27C>G)
n.353C>G
21g.34887067G=CA2387297239RUNX1c.127C= (p.Pro43=)
c.46C= (p.Pro16=)
c.91C= (p.Pro31=)
c.88C= (p.Pro30=)
c.59-6354C= (n.59-6354C=)
n.306C=
c.-27C= (n.-27C=)
n.353C=
21g.34887067G>TCA410204232RUNX1c.127C>A (p.Pro43Thr)
c.46C>A (p.Pro16Thr)
c.91C>A (p.Pro31Thr)
c.88C>A (p.Pro30Thr)
c.59-6354C>A (n.59-6354C>A)
n.306C>A
c.-27C>A (n.-27C>A)
n.353C>A
21g.34887068C>ACA512318981RUNX1c.126G>T (p.Pro42=)
c.45G>T (p.Pro15=)
c.90G>T (p.Pro30=)
c.87G>T (p.Pro29=)
c.59-6355G>T (n.59-6355G>T)
n.305G>T
c.-28G>T (n.-28G>T)
n.352G>T
21g.34887068C=CA2387297240RUNX1c.126G= (p.Pro42=)
c.45G= (p.Pro15=)
c.90G= (p.Pro30=)
c.87G= (p.Pro29=)
c.59-6355G= (n.59-6355G=)
n.305G=
c.-28G= (n.-28G=)
n.352G=
21g.34887068C>GCA512318983RUNX1c.126G>C (p.Pro42=)
c.45G>C (p.Pro15=)
c.90G>C (p.Pro30=)
c.87G>C (p.Pro29=)
c.59-6355G>C (n.59-6355G>C)
n.305G>C
c.-28G>C (n.-28G>C)
n.352G>C
gnomAD v4
21g.34887068C>TCA512318982RUNX1c.126G>A (p.Pro42=)
c.45G>A (p.Pro15=)
c.90G>A (p.Pro30=)
c.87G>A (p.Pro29=)
c.59-6355G>A (n.59-6355G>A)
n.305G>A
c.-28G>A (n.-28G>A)
n.352G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.34887069G>ACA410204236RUNX1c.125C>T (p.Pro42Leu)
c.44C>T (p.Pro15Leu)
c.89C>T (p.Pro30Leu)
c.86C>T (p.Pro29Leu)
c.59-6356C>T (n.59-6356C>T)
n.304C>T
c.-29C>T (n.-29C>T)
n.351C>T
ClinVar
21g.34887069G>CCA410204237RUNX1c.125C>G (p.Pro42Arg)
c.44C>G (p.Pro15Arg)
c.89C>G (p.Pro30Arg)
c.86C>G (p.Pro29Arg)
c.59-6356C>G (n.59-6356C>G)
n.304C>G
c.-29C>G (n.-29C>G)
n.351C>G
21g.34887069G>TCA410204234RUNX1c.125C>A (p.Pro42Gln)
c.44C>A (p.Pro15Gln)
c.89C>A (p.Pro30Gln)
c.86C>A (p.Pro29Gln)
c.59-6356C>A (n.59-6356C>A)
n.304C>A
c.-29C>A (n.-29C>A)
n.351C>A
ClinVar dbSNP
21g.34887070G>ACA410204241RUNX1c.124C>T (p.Pro42Ser)
c.43C>T (p.Pro15Ser)
c.88C>T (p.Pro30Ser)
c.85C>T (p.Pro29Ser)
c.59-6357C>T (n.59-6357C>T)
n.303C>T
c.-30C>T (n.-30C>T)
n.350C>T
dbSNP
21g.34887070G>CCA410204242RUNX1c.124C>G (p.Pro42Ala)
c.43C>G (p.Pro15Ala)
c.88C>G (p.Pro30Ala)
c.85C>G (p.Pro29Ala)
c.59-6357C>G (n.59-6357C>G)
n.303C>G
c.-30C>G (n.-30C>G)
n.350C>G
gnomAD v4
21g.34887070G>TCA410204245RUNX1c.124C>A (p.Pro42Thr)
c.43C>A (p.Pro15Thr)
c.88C>A (p.Pro30Thr)
c.85C>A (p.Pro29Thr)
c.59-6357C>A (n.59-6357C>A)
n.303C>A
c.-30C>A (n.-30C>A)
n.350C>A
21g.34887071C>ACA512318984RUNX1c.123G>T (p.Thr41=)
c.42G>T (p.Thr14=)
c.87G>T (p.Thr29=)
c.84G>T (p.Thr28=)
c.59-6358G>T (n.59-6358G>T)
n.302G>T
c.-31G>T (n.-31G>T)
n.349G>T
gnomAD v4
21g.34887071C>GCA512318986RUNX1c.123G>C (p.Thr41=)
c.42G>C (p.Thr14=)
c.87G>C (p.Thr29=)
c.84G>C (p.Thr28=)
c.59-6358G>C (n.59-6358G>C)
n.302G>C
c.-31G>C (n.-31G>C)
n.349G>C
ClinVar
21g.34887071C>TCA512318985RUNX1c.123G>A (p.Thr41=)
c.42G>A (p.Thr14=)
c.87G>A (p.Thr29=)
c.84G>A (p.Thr28=)
c.59-6358G>A (n.59-6358G>A)
n.302G>A
c.-31G>A (n.-31G>A)
n.349G>A
dbSNP gnomAD v4
21g.34887072G>ACA10014590RUNX1c.122C>T (p.Thr41Met)
c.41C>T (p.Thr14Met)
c.86C>T (p.Thr29Met)
c.83C>T (p.Thr28Met)
c.59-6359C>T (n.59-6359C>T)
n.301C>T
c.-32C>T (n.-32C>T)
n.348C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.34887072G>CCA410204248RUNX1c.122C>G (p.Thr41Arg)
c.41C>G (p.Thr14Arg)
c.86C>G (p.Thr29Arg)
c.83C>G (p.Thr28Arg)
c.59-6359C>G (n.59-6359C>G)
n.301C>G
c.-32C>G (n.-32C>G)
n.348C>G
21g.34887072G=CA2387297241RUNX1c.122C= (p.Thr41=)
c.41C= (p.Thr14=)
c.86C= (p.Thr29=)
c.83C= (p.Thr28=)
c.59-6359C= (n.59-6359C=)
n.301C=
c.-32C= (n.-32C=)
n.348C=
21g.34887072G>TCA410204250RUNX1c.122C>A (p.Thr41Lys)
c.41C>A (p.Thr14Lys)
c.86C>A (p.Thr29Lys)
c.83C>A (p.Thr28Lys)
c.59-6359C>A (n.59-6359C>A)
n.301C>A
c.-32C>A (n.-32C>A)
n.348C>A
dbSNP
21g.34887073T>ACA410204252RUNX1c.121A>T (p.Thr41Ser)
c.40A>T (p.Thr14Ser)
c.85A>T (p.Thr29Ser)
c.82A>T (p.Thr28Ser)
c.59-6360A>T (n.59-6360A>T)
n.300A>T
c.-33A>T (n.-33A>T)
n.347A>T
21g.34887073T>CCA410204256RUNX1c.121A>G (p.Thr41Ala)
c.40A>G (p.Thr14Ala)
c.85A>G (p.Thr29Ala)
c.82A>G (p.Thr28Ala)
c.59-6360A>G (n.59-6360A>G)
n.300A>G
c.-33A>G (n.-33A>G)
n.347A>G
ClinVar
21g.34887073T>GCA410204254RUNX1c.121A>C (p.Thr41Pro)
c.40A>C (p.Thr14Pro)
c.85A>C (p.Thr29Pro)
c.82A>C (p.Thr28Pro)
c.59-6360A>C (n.59-6360A>C)
n.300A>C
c.-33A>C (n.-33A>C)
n.347A>C
21g.34887074G>ACA512318988RUNX1c.120C>T (p.Phe40=)
c.39C>T (p.Phe13=)
c.84C>T (p.Phe28=)
c.81C>T (p.Phe27=)
c.59-6361C>T (n.59-6361C>T)
n.299C>T
c.-34C>T (n.-34C>T)
n.346C>T
dbSNP
21g.34887074G>CCA410204258RUNX1c.120C>G (p.Phe40Leu)
c.39C>G (p.Phe13Leu)
c.84C>G (p.Phe28Leu)
c.81C>G (p.Phe27Leu)
c.59-6361C>G (n.59-6361C>G)
n.299C>G
c.-34C>G (n.-34C>G)
n.346C>G
21g.34887074G>TCA410204260RUNX1c.120C>A (p.Phe40Leu)
c.39C>A (p.Phe13Leu)
c.84C>A (p.Phe28Leu)
c.81C>A (p.Phe27Leu)
c.59-6361C>A (n.59-6361C>A)
n.299C>A
c.-34C>A (n.-34C>A)
n.346C>A
21g.34887075_34887087dupCA916079818RUNX1c.108_120dup (p.Thr41GlufsTer?)
c.27_39dup (p.Thr14GlufsTer?)
c.72_84dup (p.Thr29GlufsTer?)
c.69_81dup (p.Thr28GlufsTer?)
c.59-6373_59-6361dup (n.59-6373_59-6361dup)
n.287_299dup
c.-46_-34dup (n.-46_-34dup)
n.334_346dup
21g.34887075A>CCA410204262RUNX1c.119T>G (p.Phe40Cys)
c.38T>G (p.Phe13Cys)
c.83T>G (p.Phe28Cys)
c.80T>G (p.Phe27Cys)
c.59-6362T>G (n.59-6362T>G)
n.298T>G
c.-35T>G (n.-35T>G)
n.345T>G
21g.34887075A>GCA410204264RUNX1c.119T>C (p.Phe40Ser)
c.38T>C (p.Phe13Ser)
c.83T>C (p.Phe28Ser)
c.80T>C (p.Phe27Ser)
c.59-6362T>C (n.59-6362T>C)
n.298T>C
c.-35T>C (n.-35T>C)
n.345T>C
gnomAD v4
21g.34887075A>TCA410204266RUNX1c.119T>A (p.Phe40Tyr)
c.38T>A (p.Phe13Tyr)
c.83T>A (p.Phe28Tyr)
c.80T>A (p.Phe27Tyr)
c.59-6362T>A (n.59-6362T>A)
n.298T>A
c.-35T>A (n.-35T>A)
n.345T>A
21g.34887076A=CA2387297242RUNX1c.118T= (p.Phe40=)
c.37T= (p.Phe13=)
c.82T= (p.Phe28=)
c.79T= (p.Phe27=)
c.59-6363T= (n.59-6363T=)
n.297T=
c.-36T= (n.-36T=)
n.344T=
21g.34887076A>CCA410204270RUNX1c.118T>G (p.Phe40Val)
c.37T>G (p.Phe13Val)
c.82T>G (p.Phe28Val)
c.79T>G (p.Phe27Val)
c.59-6363T>G (n.59-6363T>G)
n.297T>G
c.-36T>G (n.-36T>G)
n.344T>G
21g.34887076A>GCA410204272RUNX1c.118T>C (p.Phe40Leu)
c.37T>C (p.Phe13Leu)
c.82T>C (p.Phe28Leu)
c.79T>C (p.Phe27Leu)
c.59-6363T>C (n.59-6363T>C)
n.297T>C
c.-36T>C (n.-36T>C)
n.344T>C
gnomAD v4
21g.34887076A>TCA410204269RUNX1c.118T>A (p.Phe40Ile)
c.37T>A (p.Phe13Ile)
c.82T>A (p.Phe28Ile)
c.79T>A (p.Phe27Ile)
c.59-6363T>A (n.59-6363T>A)
n.297T>A
c.-36T>A (n.-36T>A)
n.344T>A
dbSNP gnomAD v2 gnomAD v4
21g.34887077G>ACA512318989RUNX1c.117C>T (p.Arg39=)
c.36C>T (p.Arg12=)
c.81C>T (p.Arg27=)
c.78C>T (p.Arg26=)
c.59-6364C>T (n.59-6364C>T)
n.296C>T
c.-37C>T (n.-37C>T)
n.343C>T
ClinVar dbSNP
21g.34887077G>CCA512318991RUNX1c.117C>G (p.Arg39=)
c.36C>G (p.Arg12=)
c.81C>G (p.Arg27=)
c.78C>G (p.Arg26=)
c.59-6364C>G (n.59-6364C>G)
n.296C>G
c.-37C>G (n.-37C>G)
n.343C>G
21g.34887077G>TCA512318990RUNX1c.117C>A (p.Arg39=)
c.36C>A (p.Arg12=)
c.81C>A (p.Arg27=)
c.78C>A (p.Arg26=)
c.59-6364C>A (n.59-6364C>A)
n.296C>A
c.-37C>A (n.-37C>A)
n.343C>A
21g.34887078C>ACA410204276RUNX1c.116G>T (p.Arg39Leu)
c.35G>T (p.Arg12Leu)
c.80G>T (p.Arg27Leu)
c.77G>T (p.Arg26Leu)
c.59-6365G>T (n.59-6365G>T)
n.295G>T
c.-38G>T (n.-38G>T)
n.342G>T
21g.34887078C=CA2387297243RUNX1c.116G= (p.Arg39=)
c.35G= (p.Arg12=)
c.80G= (p.Arg27=)
c.77G= (p.Arg26=)
c.59-6365G= (n.59-6365G=)
n.295G=
c.-38G= (n.-38G=)
n.342G=
21g.34887078C>GCA410204274RUNX1c.116G>C (p.Arg39Pro)
c.35G>C (p.Arg12Pro)
c.80G>C (p.Arg27Pro)
c.77G>C (p.Arg26Pro)
c.59-6365G>C (n.59-6365G>C)
n.295G>C
c.-38G>C (n.-38G>C)
n.342G>C
21g.34887078C>TCA410204278RUNX1c.116G>A (p.Arg39His)
c.35G>A (p.Arg12His)
c.80G>A (p.Arg27His)
c.77G>A (p.Arg26His)
c.59-6365G>A (n.59-6365G>A)
n.295G>A
c.-38G>A (n.-38G>A)
n.342G>A
ClinVar dbSNP gnomAD v4
21g.34887079G>ACA410204280RUNX1c.115C>T (p.Arg39Cys)
c.34C>T (p.Arg12Cys)
c.79C>T (p.Arg27Cys)
c.76C>T (p.Arg26Cys)
c.59-6366C>T (n.59-6366C>T)
n.294C>T
c.-39C>T (n.-39C>T)
n.341C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
21g.34887079G>CCA410204282RUNX1c.115C>G (p.Arg39Gly)
c.34C>G (p.Arg12Gly)
c.79C>G (p.Arg27Gly)
c.76C>G (p.Arg26Gly)
c.59-6366C>G (n.59-6366C>G)
n.294C>G
c.-39C>G (n.-39C>G)
n.341C>G
21g.34887079G=CA2387297244RUNX1c.115C= (p.Arg39=)
c.34C= (p.Arg12=)
c.79C= (p.Arg27=)
c.76C= (p.Arg26=)
c.59-6366C= (n.59-6366C=)
n.294C=
c.-39C= (n.-39C=)
n.341C=
21g.34887079G>TCA410204283RUNX1c.115C>A (p.Arg39Ser)
c.34C>A (p.Arg12Ser)
c.79C>A (p.Arg27Ser)
c.76C>A (p.Arg26Ser)
c.59-6366C>A (n.59-6366C>A)
n.294C>A
c.-39C>A (n.-39C>A)
n.341C>A
gnomAD v4
21g.34887080G>ACA512318994RUNX1c.114C>T (p.Arg38=)
c.33C>T (p.Arg11=)
c.78C>T (p.Arg26=)
c.75C>T (p.Arg25=)
c.59-6367C>T (n.59-6367C>T)
n.293C>T
c.-40C>T (n.-40C>T)
n.340C>T
ClinVar dbSNP gnomAD v4
21g.34887080G>CCA512318992RUNX1c.114C>G (p.Arg38=)
c.33C>G (p.Arg11=)
c.78C>G (p.Arg26=)
c.75C>G (p.Arg25=)
c.59-6367C>G (n.59-6367C>G)
n.293C>G
c.-40C>G (n.-40C>G)
n.340C>G
21g.34887080G=CA2387297245RUNX1c.114C= (p.Arg38=)
c.33C= (p.Arg11=)
c.78C= (p.Arg26=)
c.75C= (p.Arg25=)
c.59-6367C= (n.59-6367C=)
n.293C=
c.-40C= (n.-40C=)
n.340C=
21g.34887080G>TCA512318993RUNX1c.114C>A (p.Arg38=)
c.33C>A (p.Arg11=)
c.78C>A (p.Arg26=)
c.75C>A (p.Arg25=)
c.59-6367C>A (n.59-6367C>A)
n.293C>A
c.-40C>A (n.-40C>A)
n.340C>A
21g.34887081C>ACA410204286RUNX1c.113G>T (p.Arg38Leu)
c.32G>T (p.Arg11Leu)
c.77G>T (p.Arg26Leu)
c.74G>T (p.Arg25Leu)
c.59-6368G>T (n.59-6368G>T)
n.292G>T
c.-41G>T (n.-41G>T)
n.339G>T
21g.34887081C=CA2387297246RUNX1c.113G= (p.Arg38=)
c.32G= (p.Arg11=)
c.77G= (p.Arg26=)
c.74G= (p.Arg25=)
c.59-6368G= (n.59-6368G=)
n.292G=
c.-41G= (n.-41G=)
n.339G=
21g.34887081C>GCA410204288RUNX1c.113G>C (p.Arg38Pro)
c.32G>C (p.Arg11Pro)
c.77G>C (p.Arg26Pro)
c.74G>C (p.Arg25Pro)
c.59-6368G>C (n.59-6368G>C)
n.292G>C
c.-41G>C (n.-41G>C)
n.339G>C
dbSNP gnomAD v3 gnomAD v4
21g.34887081C>TCA410204289RUNX1c.113G>A (p.Arg38His)
c.32G>A (p.Arg11His)
c.77G>A (p.Arg26His)
c.74G>A (p.Arg25His)
c.59-6368G>A (n.59-6368G>A)
n.292G>A
c.-41G>A (n.-41G>A)
n.339G>A
dbSNP gnomAD v4
21g.34887082G>ACA410204294RUNX1c.112C>T (p.Arg38Cys)
c.31C>T (p.Arg11Cys)
c.76C>T (p.Arg26Cys)
c.73C>T (p.Arg25Cys)
c.59-6369C>T (n.59-6369C>T)
n.291C>T
c.-42C>T (n.-42C>T)
n.338C>T
dbSNP gnomAD v2 gnomAD v4
21g.34887082G>CCA410204291RUNX1c.112C>G (p.Arg38Gly)
c.31C>G (p.Arg11Gly)
c.76C>G (p.Arg26Gly)
c.73C>G (p.Arg25Gly)
c.59-6369C>G (n.59-6369C>G)
n.291C>G
c.-42C>G (n.-42C>G)
n.338C>G
gnomAD v4
21g.34887082G=CA2387297247RUNX1c.112C= (p.Arg38=)
c.31C= (p.Arg11=)
c.76C= (p.Arg26=)
c.73C= (p.Arg25=)
c.59-6369C= (n.59-6369C=)
n.291C=
c.-42C= (n.-42C=)
n.338C=
21g.34887082G>TCA410204293RUNX1c.112C>A (p.Arg38Ser)
c.31C>A (p.Arg11Ser)
c.76C>A (p.Arg26Ser)
c.73C>A (p.Arg25Ser)
c.59-6369C>A (n.59-6369C>A)
n.291C>A
c.-42C>A (n.-42C>A)
n.338C>A
21g.34887083G>ACA512318995RUNX1c.111C>T (p.Ser37=)
c.30C>T (p.Ser10=)
c.75C>T (p.Ser25=)
c.72C>T (p.Ser24=)
c.59-6370C>T (n.59-6370C>T)
n.290C>T
c.-43C>T (n.-43C>T)
n.337C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
21g.34887083G>CCA410204295RUNX1c.111C>G (p.Ser37Arg)
c.30C>G (p.Ser10Arg)
c.75C>G (p.Ser25Arg)
c.72C>G (p.Ser24Arg)
c.59-6370C>G (n.59-6370C>G)
n.290C>G
c.-43C>G (n.-43C>G)
n.337C>G
21g.34887083G=CA2387297248RUNX1c.111C= (p.Ser37=)
c.30C= (p.Ser10=)
c.75C= (p.Ser25=)
c.72C= (p.Ser24=)
c.59-6370C= (n.59-6370C=)
n.290C=
c.-43C= (n.-43C=)
n.337C=
21g.34887083G>TCA410204296RUNX1c.111C>A (p.Ser37Arg)
c.30C>A (p.Ser10Arg)
c.75C>A (p.Ser25Arg)
c.72C>A (p.Ser24Arg)
c.59-6370C>A (n.59-6370C>A)
n.290C>A
c.-43C>A (n.-43C>A)
n.337C>A
21g.34887084C>ACA10014591RUNX1c.110G>T (p.Ser37Ile)
c.29G>T (p.Ser10Ile)
c.74G>T (p.Ser25Ile)
c.71G>T (p.Ser24Ile)
c.59-6371G>T (n.59-6371G>T)
n.289G>T
c.-44G>T (n.-44G>T)
n.336G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.34887084C=CA2387297249RUNX1c.110G= (p.Ser37=)
c.29G= (p.Ser10=)
c.74G= (p.Ser25=)
c.71G= (p.Ser24=)
c.59-6371G= (n.59-6371G=)
n.289G=
c.-44G= (n.-44G=)
n.336G=
21g.34887084C>GCA410204297RUNX1c.110G>C (p.Ser37Thr)
c.29G>C (p.Ser10Thr)
c.74G>C (p.Ser25Thr)
c.71G>C (p.Ser24Thr)
c.59-6371G>C (n.59-6371G>C)
n.289G>C
c.-44G>C (n.-44G>C)
n.336G>C
dbSNP
21g.34887084C>TCA410204298RUNX1c.110G>A (p.Ser37Asn)
c.29G>A (p.Ser10Asn)
c.74G>A (p.Ser25Asn)
c.71G>A (p.Ser24Asn)
c.59-6371G>A (n.59-6371G>A)
n.289G>A
c.-44G>A (n.-44G>A)
n.336G>A
21g.34887085T>ACA410204299RUNX1c.109A>T (p.Ser37Cys)
c.28A>T (p.Ser10Cys)
c.73A>T (p.Ser25Cys)
c.70A>T (p.Ser24Cys)
c.59-6372A>T (n.59-6372A>T)
n.288A>T
c.-45A>T (n.-45A>T)
n.335A>T
dbSNP
21g.34887085T>CCA410204301RUNX1c.109A>G (p.Ser37Gly)
c.28A>G (p.Ser10Gly)
c.73A>G (p.Ser25Gly)
c.70A>G (p.Ser24Gly)
c.59-6372A>G (n.59-6372A>G)
n.288A>G
c.-45A>G (n.-45A>G)
n.335A>G
dbSNP gnomAD v4
21g.34887085T>GCA410204300RUNX1c.109A>C (p.Ser37Arg)
c.28A>C (p.Ser10Arg)
c.73A>C (p.Ser25Arg)
c.70A>C (p.Ser24Arg)
c.59-6372A>C (n.59-6372A>C)
n.288A>C
c.-45A>C (n.-45A>C)
n.335A>C
21g.34887086C>ACA512318996RUNX1c.108G>T (p.Thr36=)
c.27G>T (p.Thr9=)
c.72G>T (p.Thr24=)
c.69G>T (p.Thr23=)
c.59-6373G>T (n.59-6373G>T)
n.287G>T
c.-46G>T (n.-46G>T)
n.334G>T
21g.34887086C>GCA512318997RUNX1c.108G>C (p.Thr36=)
c.27G>C (p.Thr9=)
c.72G>C (p.Thr24=)
c.69G>C (p.Thr23=)
c.59-6373G>C (n.59-6373G>C)
n.287G>C
c.-46G>C (n.-46G>C)
n.334G>C
gnomAD v4
21g.34887086C>TCA512318998RUNX1c.108G>A (p.Thr36=)
c.27G>A (p.Thr9=)
c.72G>A (p.Thr24=)
c.69G>A (p.Thr23=)
c.59-6373G>A (n.59-6373G>A)
n.287G>A
c.-46G>A (n.-46G>A)
n.334G>A
ClinVar dbSNP gnomAD v4
21g.34887087G>ACA410204302RUNX1c.107C>T (p.Thr36Met)
c.26C>T (p.Thr9Met)
c.71C>T (p.Thr24Met)
c.68C>T (p.Thr23Met)
c.59-6374C>T (n.59-6374C>T)
n.286C>T
c.-47C>T (n.-47C>T)
n.333C>T
gnomAD v4
21g.34887087G>CCA410204303RUNX1c.107C>G (p.Thr36Arg)
c.26C>G (p.Thr9Arg)
c.71C>G (p.Thr24Arg)
c.68C>G (p.Thr23Arg)
c.59-6374C>G (n.59-6374C>G)
n.286C>G
c.-47C>G (n.-47C>G)
n.333C>G
ClinVar dbSNP gnomAD v4
21g.34887087G=CA2387297250RUNX1c.107C= (p.Thr36=)
c.26C= (p.Thr9=)
c.71C= (p.Thr24=)
c.68C= (p.Thr23=)
c.59-6374C= (n.59-6374C=)
n.286C=
c.-47C= (n.-47C=)
n.333C=
21g.34887087G>TCA410204304RUNX1c.107C>A (p.Thr36Lys)
c.26C>A (p.Thr9Lys)
c.71C>A (p.Thr24Lys)
c.68C>A (p.Thr23Lys)
c.59-6374C>A (n.59-6374C>A)
n.286C>A
c.-47C>A (n.-47C>A)
n.333C>A
21g.34887088T>ACA410204305RUNX1c.106A>T (p.Thr36Ser)
c.25A>T (p.Thr9Ser)
c.70A>T (p.Thr24Ser)
c.67A>T (p.Thr23Ser)
c.59-6375A>T (n.59-6375A>T)
n.285A>T
c.-48A>T (n.-48A>T)
n.332A>T
21g.34887088T>CCA410204306RUNX1c.106A>G (p.Thr36Ala)
c.25A>G (p.Thr9Ala)
c.70A>G (p.Thr24Ala)
c.67A>G (p.Thr23Ala)
c.59-6375A>G (n.59-6375A>G)
n.285A>G
c.-48A>G (n.-48A>G)
n.332A>G
dbSNP
21g.34887088T>GCA410204307RUNX1c.106A>C (p.Thr36Pro)
c.25A>C (p.Thr9Pro)
c.70A>C (p.Thr24Pro)
c.67A>C (p.Thr23Pro)
c.59-6375A>C (n.59-6375A>C)
n.285A>C
c.-48A>C (n.-48A>C)
n.332A>C
21g.34887088T=CA2387297251RUNX1c.106A= (p.Thr36=)
c.25A= (p.Thr9=)
c.70A= (p.Thr24=)
c.67A= (p.Thr23=)
c.59-6375A= (n.59-6375A=)
n.285A=
c.-48A= (n.-48A=)
n.332A=
21g.34887089G>ACA512318999RUNX1c.105C>T (p.Ser35=)
c.24C>T (p.Ser8=)
c.69C>T (p.Ser23=)
c.66C>T (p.Ser22=)
c.59-6376C>T (n.59-6376C>T)
n.284C>T
c.-49C>T (n.-49C>T)
n.331C>T
ClinVar dbSNP
21g.34887089G>CCA410204308RUNX1c.105C>G (p.Ser35Arg)
c.24C>G (p.Ser8Arg)
c.69C>G (p.Ser23Arg)
c.66C>G (p.Ser22Arg)
c.59-6376C>G (n.59-6376C>G)
n.284C>G
c.-49C>G (n.-49C>G)
n.331C>G
21g.34887089G=CA2387297252RUNX1c.105C= (p.Ser35=)
c.24C= (p.Ser8=)
c.69C= (p.Ser23=)
c.66C= (p.Ser22=)
c.59-6376C= (n.59-6376C=)
n.284C=
c.-49C= (n.-49C=)
n.331C=
21g.34887089G>TCA410204309RUNX1c.105C>A (p.Ser35Arg)
c.24C>A (p.Ser8Arg)
c.69C>A (p.Ser23Arg)
c.66C>A (p.Ser22Arg)
c.59-6376C>A (n.59-6376C>A)
n.284C>A
c.-49C>A (n.-49C>A)
n.331C>A
ClinVar dbSNP
21g.34887090C>ACA410204310RUNX1c.104G>T (p.Ser35Ile)
c.23G>T (p.Ser8Ile)
c.68G>T (p.Ser23Ile)
c.65G>T (p.Ser22Ile)
c.59-6377G>T (n.59-6377G>T)
n.283G>T
c.-50G>T (n.-50G>T)
n.330G>T
21g.34887090C=CA2387297253RUNX1c.104G= (p.Ser35=)
c.23G= (p.Ser8=)
c.68G= (p.Ser23=)
c.65G= (p.Ser22=)
c.59-6377G= (n.59-6377G=)
n.283G=
c.-50G= (n.-50G=)
n.330G=
21g.34887090C>GCA410204311RUNX1c.104G>C (p.Ser35Thr)
c.23G>C (p.Ser8Thr)
c.68G>C (p.Ser23Thr)
c.65G>C (p.Ser22Thr)
c.59-6377G>C (n.59-6377G>C)
n.283G>C
c.-50G>C (n.-50G>C)
n.330G>C
21g.34887090C>TCA410204312RUNX1c.104G>A (p.Ser35Asn)
c.23G>A (p.Ser8Asn)
c.68G>A (p.Ser23Asn)
c.65G>A (p.Ser22Asn)
c.59-6377G>A (n.59-6377G>A)
n.283G>A
c.-50G>A (n.-50G>A)
n.330G>A
ClinVar dbSNP
21g.34887092_34887098dupCA645607470RUNX1c.98_104dup
c.17_23dup (p.Ser8ArgfsTer?)
c.62_68dup
c.59_65dup
c.59-6383_59-6377dup (n.59-6383_59-6377dup)
n.277_283dup
c.-56_-50dup
n.324_330dup
COSMIC COSMIC
21g.34887091T>ACA410204315RUNX1c.103A>T (p.Ser35Cys)
c.22A>T (p.Ser8Cys)
c.67A>T (p.Ser23Cys)
c.64A>T (p.Ser22Cys)
c.59-6378A>T (n.59-6378A>T)
n.282A>T
c.-51A>T (n.-51A>T)
n.329A>T
21g.34887091T>CCA410204314RUNX1c.103A>G (p.Ser35Gly)
c.22A>G (p.Ser8Gly)
c.67A>G (p.Ser23Gly)
c.64A>G (p.Ser22Gly)
c.59-6378A>G (n.59-6378A>G)
n.282A>G
c.-51A>G (n.-51A>G)
n.329A>G
gnomAD v4
21g.34887091T>GCA410204313RUNX1c.103A>C (p.Ser35Arg)
c.22A>C (p.Ser8Arg)
c.67A>C (p.Ser23Arg)
c.64A>C (p.Ser22Arg)
c.59-6378A>C (n.59-6378A>C)
n.282A>C
c.-51A>C (n.-51A>C)
n.329A>C
21g.34887092G>ACA512319002RUNX1c.102C>T (p.Ala34=)
c.21C>T (p.Ala7=)
c.66C>T (p.Ala22=)
c.63C>T (p.Ala21=)
c.59-6379C>T (n.59-6379C>T)
n.281C>T
c.-52C>T (n.-52C>T)
n.328C>T
21g.34887092G>CCA512319001RUNX1c.102C>G (p.Ala34=)
c.21C>G (p.Ala7=)
c.66C>G (p.Ala22=)
c.63C>G (p.Ala21=)
c.59-6379C>G (n.59-6379C>G)
n.281C>G
c.-52C>G (n.-52C>G)
n.328C>G
21g.34887092G>TCA512319000RUNX1c.102C>A (p.Ala34=)
c.21C>A (p.Ala7=)
c.66C>A (p.Ala22=)
c.63C>A (p.Ala21=)
c.59-6379C>A (n.59-6379C>A)
n.281C>A
c.-52C>A (n.-52C>A)
n.328C>A
ClinVar
21g.34887093G>ACA410204318RUNX1c.101C>T (p.Ala34Val)
c.20C>T (p.Ala7Val)
c.65C>T (p.Ala22Val)
c.62C>T (p.Ala21Val)
c.59-6380C>T (n.59-6380C>T)
n.280C>T
c.-53C>T (n.-53C>T)
n.327C>T
ClinVar dbSNP
21g.34887093G>CCA410204316RUNX1c.101C>G (p.Ala34Gly)
c.20C>G (p.Ala7Gly)
c.65C>G (p.Ala22Gly)
c.62C>G (p.Ala21Gly)
c.59-6380C>G (n.59-6380C>G)
n.280C>G
c.-53C>G (n.-53C>G)
n.327C>G
ClinVar
21g.34887093G=CA2387297254RUNX1c.101C= (p.Ala34=)
c.20C= (p.Ala7=)
c.65C= (p.Ala22=)
c.62C= (p.Ala21=)
c.59-6380C= (n.59-6380C=)
n.280C=
c.-53C= (n.-53C=)
n.327C=
21g.34887093G>TCA410204317RUNX1c.101C>A (p.Ala34Asp)
c.20C>A (p.Ala7Asp)
c.65C>A (p.Ala22Asp)
c.62C>A (p.Ala21Asp)
c.59-6380C>A (n.59-6380C>A)
n.280C>A
c.-53C>A (n.-53C>A)
n.327C>A
ClinVar dbSNP
21g.34887094C>ACA410204319RUNX1c.100G>T (p.Ala34Ser)
c.19G>T (p.Ala7Ser)
c.64G>T (p.Ala22Ser)
c.61G>T (p.Ala21Ser)
c.59-6381G>T (n.59-6381G>T)
n.279G>T
c.-54G>T (n.-54G>T)
n.326G>T
21g.34887094C>GCA410204320RUNX1c.100G>C (p.Ala34Pro)
c.19G>C (p.Ala7Pro)
c.64G>C (p.Ala22Pro)
c.61G>C (p.Ala21Pro)
c.59-6381G>C (n.59-6381G>C)
n.279G>C
c.-54G>C (n.-54G>C)
n.326G>C
21g.34887094C>TCA410204321RUNX1c.100G>A (p.Ala34Thr)
c.19G>A (p.Ala7Thr)
c.64G>A (p.Ala22Thr)
c.61G>A (p.Ala21Thr)
c.59-6381G>A (n.59-6381G>A)
n.279G>A
c.-54G>A (n.-54G>A)
n.326G>A
ClinVar gnomAD v4

Number of alleles fetched